ClinVar Miner

List of variants reported as uncertain significance for congenital myopathy by Invitae

Included ClinVar conditions (291):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19747
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) rs762149243 0.01857
NM_001267550.2(TTN):c.30683-2A>T rs886043892 0.00604
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg) rs568554504 0.00195
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512 0.00107
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg) rs781829024 0.00102
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_017534.6(MYH2):c.1587+5G>T rs192223842 0.00059
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys) rs200958015 0.00054
NM_145064.3(STAC3):c.157G>A (p.Val53Met) rs141938531 0.00054
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp) rs138206136 0.00053
NM_001256545.2(MEGF10):c.259A>G (p.Met87Val) rs41298304 0.00052
NM_017534.6(MYH2):c.5472+3G>T rs200691436 0.00052
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile) rs142841000 0.00051
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala) rs111941389 0.00048
NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln) rs143022667 0.00048
NM_198271.5(LMOD3):c.1645T>C (p.Tyr549His) rs200045981 0.00047
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_001164508.2(NEB):c.23557-3C>G rs374499643 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_152393.4(KLHL40):c.968T>G (p.Ile323Ser) rs146161469 0.00043
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe) rs373391330 0.00042
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001256545.2(MEGF10):c.669T>A (p.Asp223Glu) rs142221815 0.00040
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser) rs534339525 0.00040
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His) rs142934668 0.00040
NM_001256545.2(MEGF10):c.452G>A (p.Arg151Gln) rs78069165 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_152393.4(KLHL40):c.238G>C (p.Asp80His) rs144461124 0.00039
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His) rs772352938 0.00038
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00037
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) rs138696018 0.00036
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His) rs368915047 0.00035
NM_001256545.2(MEGF10):c.1622G>T (p.Arg541Leu) rs142664089 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_001101362.3(KBTBD13):c.205C>T (p.Arg69Trp) rs530722554 0.00034
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg) rs371580084 0.00034
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp) rs201793958 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) rs376616067 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln) rs113542442 0.00032
NM_000183.3(HADHB):c.1023G>T (p.Met341Ile) rs141484936 0.00031
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr) rs143683481 0.00031
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro) rs372800812 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_017534.6(MYH2):c.878C>T (p.Thr293Ile) rs774544504 0.00031
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916 0.00030
NM_032790.4(ORAI1):c.25C>T (p.Pro9Ser) rs868966101 0.00030
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) rs150190849 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met) rs184923756 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp) rs191102801 0.00029
NM_020451.3(SELENON):c.716G>A (p.Arg239His) rs199709671 0.00029
NM_000183.3(HADHB):c.640G>A (p.Val214Ile) rs149693931 0.00028
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) rs982364753 0.00028
NM_032790.4(ORAI1):c.114G>C (p.Glu38Asp) rs1226204743 0.00028
NM_198271.5(LMOD3):c.506C>T (p.Thr169Met) rs181564355 0.00028
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp) rs138213139 0.00027
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg) rs368297438 0.00026
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala) rs370498307 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser) rs370809363 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser) rs191263181 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His) rs200154277 0.00026
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_004369.4(COL6A3):c.9494-2A>G rs142546062 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_017534.6(MYH2):c.1082A>T (p.His361Leu) rs139478967 0.00026
NM_032790.4(ORAI1):c.115C>T (p.Pro39Ser) rs782531427 0.00026
NM_138638.5(CFL2):c.169G>A (p.Val57Met) rs200536303 0.00026
NM_198271.5(LMOD3):c.1423G>A (p.Ala475Thr) rs200273352 0.00026
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) rs200717164 0.00025
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001848.3(COL6A1):c.957+6C>T rs374926748 0.00025
NM_213720.3(CHCHD10):c.409+1G>A rs367684804 0.00025
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398 0.00024
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827 0.00024
NM_145064.3(STAC3):c.221A>G (p.Glu74Gly) rs199716296 0.00024
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) rs145733370 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.34354G>A (p.Val11452Met) rs938988662 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) rs199781261 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001256545.2(MEGF10):c.877A>G (p.Thr293Ala) rs144187055 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 0.00022
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) rs200018866 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00022
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys) rs988844595 0.00022
NM_001267550.2(TTN):c.70817T>C (p.Met23606Thr) rs371030086 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His) rs199751037 0.00022
NM_152393.4(KLHL40):c.1640G>A (p.Arg547His) rs144187563 0.00022
NM_152393.4(KLHL40):c.197C>G (p.Pro66Arg) rs200810691 0.00022
NM_152393.4(KLHL40):c.643C>T (p.Arg215Cys) rs376618797 0.00022
NM_001164508.2(NEB):c.9178A>G (p.Met3060Val) rs538524863 0.00021
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn) rs372263729 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val) rs376613199 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu) rs200700386 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.59026G>T (p.Asp19676Tyr) rs186215280 0.00021
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys) rs373867080 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00021
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781 0.00021
NM_006063.3(KLHL41):c.206C>T (p.Ala69Val) rs151212497 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr) rs138966725 0.00020
NM_001164508.2(NEB):c.1569C>T (p.Asp523=) rs200758495 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001267550.2(TTN):c.37193C>T (p.Pro12398Leu) rs570730533 0.00020
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile) rs367816473 0.00020
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys) rs376870149 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_017534.6(MYH2):c.2332C>T (p.Leu778Phe) rs751563313 0.00020
NM_198271.5(LMOD3):c.1664T>A (p.Leu555Gln) rs377612351 0.00020
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp) rs371490023 0.00019
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156 0.00019
NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu) rs373446383 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala) rs780629996 0.00019
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.31922C>T (p.Pro10641Leu) rs773886361 0.00019
NM_001267550.2(TTN):c.32780A>G (p.Lys10927Arg) rs373657520 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile) rs374764110 0.00019
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys) rs199646089 0.00019
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser) rs377612718 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala) rs758207460 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002469.3(MYF6):c.184G>A (p.Val62Ile) rs190471225 0.00019
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn) rs141774400 0.00019
NM_017534.6(MYH2):c.3058G>C (p.Glu1020Gln) rs150248342 0.00019
NM_152393.4(KLHL40):c.1681G>A (p.Ala561Thr) rs142487510 0.00019
NM_152393.4(KLHL40):c.413G>C (p.Arg138Pro) rs142285083 0.00019
NM_198271.5(LMOD3):c.1384T>G (p.Phe462Val) rs368084636 0.00019
NM_198859.4(PRICKLE2):c.635G>A (p.Gly212Glu) rs779069863 0.00019
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787 0.00018
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.36847A>C (p.Lys12283Gln) rs1479390801 0.00018
NM_001267550.2(TTN):c.38123-8C>A rs1481421931 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser) rs776899398 0.00018
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001267550.2(TTN):c.84968A>T (p.Tyr28323Phe) rs1285180382 0.00018
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) rs542208825 0.00018
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_017534.6(MYH2):c.1729G>A (p.Glu577Lys) rs564509544 0.00018
NM_017534.6(MYH2):c.533+6T>G rs545924178 0.00018
NM_020451.3(SELENON):c.980G>A (p.Arg327His) rs556232275 0.00018
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser) rs370615288 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) rs577066020 0.00017
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His) rs370048456 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00017
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile) rs375141729 0.00017
NM_001267550.2(TTN):c.58727G>A (p.Arg19576His) rs771668359 0.00017
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu) rs200308639 0.00017
NM_001267550.2(TTN):c.89936C>T (p.Thr29979Ile) rs779619858 0.00017
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile) rs371386355 0.00017
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met) rs150829316 0.00017
NM_017534.6(MYH2):c.3854G>A (p.Arg1285His) rs148326504 0.00017
NM_017534.6(MYH2):c.4582C>T (p.Arg1528Cys) rs377584935 0.00017
NM_017534.6(MYH2):c.4697G>A (p.Arg1566His) rs200732220 0.00017
NM_032790.4(ORAI1):c.158C>G (p.Pro53Arg) rs572379138 0.00017
NM_152393.4(KLHL40):c.236C>T (p.Pro79Leu) rs779637973 0.00017
NM_198271.5(LMOD3):c.453A>T (p.Glu151Asp) rs376142558 0.00017
NM_000036.3(AMPD1):c.1849A>G (p.Met617Val) rs565587413 0.00016
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086 0.00016
NM_001256545.2(MEGF10):c.3288G>C (p.Gln1096His) rs142969706 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys) rs377600383 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.10535T>C (p.Val3512Ala) rs200918396 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly) rs140289517 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr) rs200321239 0.00016
NM_001267550.2(TTN):c.36644C>T (p.Pro12215Leu) rs367720476 0.00016
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556 0.00016
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00016
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys) rs200914097 0.00016
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00016
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00016
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln) rs575837567 0.00016
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys) rs191549948 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_001378030.1(CCDC78):c.1054-3T>C rs371542042 0.00016
NM_001378030.1(CCDC78):c.268-3C>T rs371386354 0.00016
NM_001843.4(CNTN1):c.1805-3C>T rs771301005 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002469.3(MYF6):c.288A>T (p.Lys96Asn) rs377370090 0.00016
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr) rs372922115 0.00016
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_007078.3(LDB3):c.769G>C (p.Glu257Gln) rs143996848 0.00016
NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly) rs201784718 0.00016
NM_020451.3(SELENON):c.1247G>A (p.Arg416Gln) rs373112027 0.00016
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) rs200887814 0.00016
NM_139343.3(BIN1):c.1480G>A (p.Val494Met) rs144459969 0.00016
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe) rs142817656 0.00016
NM_152393.4(KLHL40):c.1709C>T (p.Thr570Met) rs139268932 0.00016
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00016
NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln) rs372367565 0.00016
NM_001101362.3(KBTBD13):c.272C>A (p.Pro91Gln) rs773454367 0.00015
NM_001256545.2(MEGF10):c.2848G>C (p.Val950Leu) rs148280932 0.00015
NM_001256545.2(MEGF10):c.3170G>A (p.Arg1057Lys) rs374156507 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) rs190192954 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys) rs368607833 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val) rs372075439 0.00015
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del) rs778364983 0.00015
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys) rs746309005 0.00015
NM_001378030.1(CCDC78):c.1103G>A (p.Gly368Glu) rs145971446 0.00015
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu) rs148705181 0.00015
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) rs751650734 0.00015
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly) rs138639141 0.00015
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891 0.00015
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009 0.00015
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) rs146426896 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_017534.6(MYH2):c.1334G>A (p.Arg445His) rs201040489 0.00015
NM_020451.3(SELENON):c.1744C>T (p.Arg582Trp) rs373530866 0.00015
NM_152393.4(KLHL40):c.836G>T (p.Gly279Val) rs144534091 0.00015
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) rs764094155 0.00014
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys) rs563430855 0.00014
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00014
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met) rs371455094 0.00014
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr) rs371538856 0.00014
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp) rs182102510 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His) rs200835354 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 0.00014
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) rs532844402 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys) rs571328201 0.00014
NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala) rs754325718 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=) rs192167542 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00014
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser) rs141708467 0.00014
NM_001382567.1(STIM1):c.562C>A (p.Gln188Lys) rs372235564 0.00014
NM_001458.5(FLNC):c.5298+6G>A rs373553314 0.00014
NM_001843.4(CNTN1):c.1095G>T (p.Leu365Phe) rs151126410 0.00014
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) rs374200408 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu) rs145572916 0.00014
NM_004369.4(COL6A3):c.6966+4A>C rs373940717 0.00014
NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys) rs372183592 0.00014
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile) rs143204063 0.00014
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) rs76037557 0.00014
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) rs373262677 0.00013
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001256545.2(MEGF10):c.1316G>A (p.Cys439Tyr) rs761883697 0.00013
NM_001256545.2(MEGF10):c.1364G>A (p.Arg455His) rs144145310 0.00013
NM_001256545.2(MEGF10):c.401A>G (p.Asn134Ser) rs574376262 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly) rs376000381 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.19496A>T (p.His6499Leu) rs375173049 0.00013
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg) rs371090975 0.00013
NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His) rs373068293 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.35387C>A (p.Ala11796Glu) rs200321949 0.00013
NM_001267550.2(TTN):c.36170C>A (p.Pro12057His) rs374834199 0.00013
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr) rs373753003 0.00013
NM_001267550.2(TTN):c.36490C>A (p.Pro12164Thr) rs373422655 0.00013
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg) rs997014833 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys) rs772093035 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) rs149660690 0.00013
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn) rs776943572 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.89066G>A (p.Arg29689His) rs368634670 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_001382567.1(STIM1):c.1757G>A (p.Gly586Asp) rs200525396 0.00013
NM_001382567.1(STIM1):c.454G>A (p.Glu152Lys) rs143916878 0.00013
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946 0.00013
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn) rs146872525 0.00013
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly) rs139212712 0.00013
NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu) rs549883296 0.00013
NM_145064.3(STAC3):c.323G>A (p.Arg108Gln) rs186941885 0.00013
NM_198271.5(LMOD3):c.1576C>T (p.Pro526Ser) rs201771939 0.00013
NM_198271.5(LMOD3):c.295-3T>C rs377200088 0.00013
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796 0.00013
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114 0.00012
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg) rs552191498 0.00012
NM_001101362.3(KBTBD13):c.382T>C (p.Phe128Leu) rs572875121 0.00012
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys) rs200462308 0.00012
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val) rs149384863 0.00012
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile) rs372762302 0.00012
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys) rs368965372 0.00012
NM_001256545.2(MEGF10):c.596A>G (p.Asn199Ser) rs373163952 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser) rs565638291 0.00012
NM_001267550.2(TTN):c.1399-3C>T rs397517486 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr) rs550441902 0.00012
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile) rs200395305 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=) rs370604793 0.00012
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val) rs182720979 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) rs786205395 0.00012
NM_001267550.2(TTN):c.37019C>T (p.Pro12340Leu) rs778829839 0.00012
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile) rs374394719 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His) rs368806005 0.00012
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln) rs370516890 0.00012
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr) rs397517720 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00012
NM_001267550.2(TTN):c.93371A>T (p.Asp31124Val) rs775147653 0.00012
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr) rs200591895 0.00012
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met) rs200139062 0.00012
NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr) rs143416044 0.00012
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr) rs370481102 0.00012
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_145064.3(STAC3):c.962G>A (p.Arg321His) rs370840978 0.00012
NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys) rs377564589 0.00012
NM_152393.4(KLHL40):c.1621G>A (p.Glu541Lys) rs142761414 0.00012
NM_152393.4(KLHL40):c.1639C>T (p.Arg547Cys) rs187688307 0.00012
NM_198271.5(LMOD3):c.148G>A (p.Val50Met) rs144761436 0.00012
NM_000036.3(AMPD1):c.1595A>T (p.Glu532Val) rs776146662 0.00011
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) rs143596876 0.00011
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg) rs374196960 0.00011
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341 0.00011
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936 0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001164508.2(NEB):c.6807+5A>G rs746481799 0.00011
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016 0.00011
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His) rs111841612 0.00011
NM_001164508.2(NEB):c.9854G>A (p.Arg3285His) rs376932516 0.00011
NM_001256545.2(MEGF10):c.1839G>A (p.Arg613=) rs199930517 0.00011
NM_001256545.2(MEGF10):c.656C>T (p.Ala219Val) rs945019709 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.10759A>C (p.Thr3587Pro) rs370496599 0.00011
NM_001267550.2(TTN):c.12434A>C (p.Glu4145Ala) rs372744369 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) rs779015756 0.00011
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val) rs764249439 0.00011
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile) rs370418677 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) rs375309278 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His) rs572453785 0.00011
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr) rs727505276 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg) rs764259290 0.00011
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His) rs775137607 0.00011
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) rs201693851 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His) rs745992545 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val) rs201818722 0.00011
NM_001267550.2(TTN):c.72166C>T (p.Arg24056Cys) rs372662393 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00011
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys) rs368574470 0.00011
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile) rs372784067 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg) rs72648234 0.00011
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) rs373900294 0.00011
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu) rs370541682 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala) rs556720151 0.00011
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950 0.00011
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr) rs144624081 0.00011
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg) rs147899031 0.00011
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val) rs750326949 0.00011
NM_001382567.1(STIM1):c.2053G>A (p.Ala685Thr) rs201466902 0.00011
NM_001843.4(CNTN1):c.3037C>T (p.Leu1013Phe) rs201778720 0.00011
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_002469.3(MYF6):c.575A>C (p.Asp192Ala) rs146824657 0.00011
NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp) rs201181493 0.00011
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp) rs200479768 0.00011
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn) rs1004651681 0.00011
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) rs184494954 0.00011
NM_020451.3(SELENON):c.1295C>T (p.Pro432Leu) rs199920149 0.00011
NM_020451.3(SELENON):c.1388-3C>T rs754894330 0.00011
NM_032790.4(ORAI1):c.139C>T (p.Pro47Ser) rs782786977 0.00011
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_152393.4(KLHL40):c.1355T>C (p.Val452Ala) rs140389534 0.00011
NM_152393.4(KLHL40):c.1636G>C (p.Glu546Gln) rs137937929 0.00011
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser) rs140056720 0.00011
NM_000036.3(AMPD1):c.440G>A (p.Arg147His) rs147852547 0.00010
NM_001101362.3(KBTBD13):c.359del (p.Asp120fs) rs903604256 0.00010
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449 0.00010
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104 0.00010
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=) rs779321695 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg) rs373892420 0.00010
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn) rs764110936 0.00010
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728 0.00010
NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr) rs138234724 0.00010
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln) rs201954720 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu) rs201565932 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.21404-8C>G rs761542135 0.00010
NM_001267550.2(TTN):c.24020G>A (p.Arg8007Gln) rs765789516 0.00010
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His) rs397517510 0.00010
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His) rs144587343 0.00010
NM_001267550.2(TTN):c.26283C>T (p.Gly8761=) rs376046284 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.31762+4C>T rs368538884 0.00010
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu) rs371752190 0.00010
NM_001267550.2(TTN):c.35959+5C>T rs758684276 0.00010
NM_001267550.2(TTN):c.37543+5G>T rs570767771 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) rs369709751 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239 0.00010
NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln) rs747224934 0.00010
NM_001267550.2(TTN):c.5048G>A (p.Arg1683Gln) rs368122582 0.00010
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser) rs551538420 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met) rs372685222 0.00010
NM_001267550.2(TTN):c.65731A>G (p.Lys21911Glu) rs372565084 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.81869G>C (p.Gly27290Ala) rs200240728 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.90104G>A (p.Arg30035His) rs199895320 0.00010
NM_001267550.2(TTN):c.91384C>T (p.Arg30462Trp) rs373623340 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His) rs774296358 0.00010
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys) rs370998388 0.00010
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.1332+3G>A rs201007156 0.00010
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser) rs147054208 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_017534.6(MYH2):c.5264G>A (p.Arg1755His) rs144414607 0.00010
NM_138638.5(CFL2):c.355A>T (p.Ser119Cys) rs1353965924 0.00010
NM_139343.3(BIN1):c.857+4C>T rs61748156 0.00010
NM_145064.3(STAC3):c.941C>T (p.Thr314Met) rs146430404 0.00010
NM_198859.4(PRICKLE2):c.1573A>G (p.Ser525Gly) rs755802840 0.00010
NM_000036.3(AMPD1):c.1388+5G>A rs374144421 0.00009
NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His) rs377325321 0.00009
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn) rs117636679 0.00009
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.1152+5G>A rs111404077 0.00009
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn) rs766876980 0.00009
NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr) rs746008098 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.23017-3T>C rs111314898 0.00009
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala) rs199890164 0.00009
NM_001256545.2(MEGF10):c.1726C>T (p.Arg576Cys) rs143087353 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=) rs397517790 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.14050G>A (p.Gly4684Arg) rs377579941 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.2061A>G (p.Gln687=) rs188680791 0.00009
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile) rs371267140 0.00009
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr) rs143444636 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) rs72647861 0.00009
NM_001267550.2(TTN):c.26674G>A (p.Val8892Ile) rs747832107 0.00009
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00009
NM_001267550.2(TTN):c.30033A>G (p.Gln10011=) rs768497622 0.00009
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln) rs727504757 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala) rs199561793 0.00009
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala) rs564353179 0.00009
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met) rs766145596 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu) rs561284948 0.00009
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) rs199768159 0.00009
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala) rs374543277 0.00009
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln) rs138896856 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp) rs372443762 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu) rs369648778 0.00009
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp) rs368026488 0.00009
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.61337G>A (p.Arg20446His) rs368278158 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His) rs374883884 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser) rs373204984 0.00009
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr) rs759110420 0.00009
NM_001267550.2(TTN):c.77707G>A (p.Val25903Ile) rs570615498 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His) rs755972883 0.00009
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=) rs771635198 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln) rs771507948 0.00009
NM_001382567.1(STIM1):c.1994G>A (p.Arg665Gln) rs200632934 0.00009
NM_001458.5(FLNC):c.1168A>C (p.Asn390His) rs922960289 0.00009
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val) rs547997371 0.00009
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys) rs200077114 0.00009
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser) rs778922568 0.00009
NM_001843.4(CNTN1):c.694A>G (p.Ile232Val) rs972742579 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004168.4(SDHA):c.1591G>A (p.Val531Met) rs371056571 0.00009
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val) rs201068049 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu) rs556000090 0.00009
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu) rs199700646 0.00009
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp) rs371066956 0.00009
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu) rs754916465 0.00009
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys) rs199684959 0.00009
NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His) rs758684130 0.00009
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala) rs766650528 0.00009
NM_007078.3(LDB3):c.1071T>A (p.Pro357=) rs143823978 0.00009
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser) rs147072071 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val) rs374630865 0.00009
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala) rs776266174 0.00009
NM_020451.3(SELENON):c.1517C>T (p.Ser506Leu) rs766798515 0.00009
NM_032790.4(ORAI1):c.151A>C (p.Thr51Pro) rs782810452 0.00009
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met) rs754678339 0.00009
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_145064.3(STAC3):c.806C>T (p.Pro269Leu) rs367590066 0.00009
NM_152393.4(KLHL40):c.1204C>T (p.Arg402Cys) rs149076152 0.00009
NM_198271.5(LMOD3):c.1367A>T (p.Asn456Ile) rs751407704 0.00009
NM_000036.3(AMPD1):c.1400G>A (p.Arg467His) rs140957303 0.00008
NM_000036.3(AMPD1):c.200C>T (p.Ser67Phe) rs145315039 0.00008
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) rs376193713 0.00008
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438 0.00008
NM_000183.3(HADHB):c.514C>T (p.Pro172Ser) rs367891116 0.00008
NM_001164508.2(NEB):c.10196T>C (p.Ile3399Thr) rs377734027 0.00008
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305 0.00008
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly) rs201747395 0.00008
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn) rs375811851 0.00008
NM_001256545.2(MEGF10):c.2348G>A (p.Arg783Gln) rs755400237 0.00008
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly) rs370476812 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr) rs575070622 0.00008
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val) rs567457007 0.00008
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser) rs371518764 0.00008
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr) rs759713604 0.00008
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly) rs181902304 0.00008
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys) rs377563403 0.00008
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) rs541384076 0.00008
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe) rs746817480 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile) rs764203267 0.00008
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln) rs55853138 0.00008
NM_001267550.2(TTN):c.73319T>C (p.Ile24440Thr) rs370931683 0.00008
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr) rs773226749 0.00008
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe) rs755325663 0.00008
NM_001267550.2(TTN):c.92167C>T (p.Pro30723Ser) rs758537709 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902 0.00008
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001378030.1(CCDC78):c.104G>A (p.Gly35Asp) rs929692414 0.00008
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp) rs369081589 0.00008
NM_001382567.1(STIM1):c.182A>G (p.Glu61Gly) rs202160755 0.00008
NM_001382567.1(STIM1):c.1987G>A (p.Asp663Asn) rs369549218 0.00008
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly) rs201002262 0.00008
NM_001843.4(CNTN1):c.2687T>C (p.Ile896Thr) rs771657279 0.00008
NM_001848.3(COL6A1):c.1777-3C>T rs111263341 0.00008
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014 0.00008
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro) rs375194444 0.00008
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390 0.00008
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu) rs149367009 0.00008
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259 0.00008
NM_007078.3(LDB3):c.1411C>T (p.Pro471Ser) rs750941511 0.00008
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp) rs142947567 0.00008
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_007078.3(LDB3):c.581A>T (p.Gln194Leu) rs769852198 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln) rs201689564 0.00008
NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser) rs148270782 0.00008
NM_017534.6(MYH2):c.205-3C>T rs371123671 0.00008
NM_017534.6(MYH2):c.3572A>G (p.His1191Arg) rs747186072 0.00008
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys) rs202006788 0.00008
NM_017534.6(MYH2):c.5743C>T (p.Arg1915Trp) rs745584391 0.00008
NM_020451.3(SELENON):c.457G>A (p.Glu153Lys) rs374512346 0.00008
NM_152393.4(KLHL40):c.1414A>G (p.Ser472Gly) rs752099249 0.00008
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu) rs368455378 0.00007
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324 0.00007
NM_001101362.3(KBTBD13):c.833A>T (p.Tyr278Phe) rs748032183 0.00007
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile) rs375830667 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001164508.2(NEB):c.23127+4G>A rs764457781 0.00007
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120 0.00007
NM_001256545.2(MEGF10):c.1166C>T (p.Pro389Leu) rs141706024 0.00007
NM_001256545.2(MEGF10):c.1514G>A (p.Gly505Glu) rs199699950 0.00007
NM_001256545.2(MEGF10):c.534C>T (p.Cys178=) rs577473643 0.00007
NM_001256545.2(MEGF10):c.538G>A (p.Asp180Asn) rs142679354 0.00007
NM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys) rs200236385 0.00007
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys) rs371908649 0.00007
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys) rs376443365 0.00007
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) rs397517795 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.21789G>C (p.Trp7263Cys) rs377544260 0.00007
NM_001267550.2(TTN):c.25717A>C (p.Ile8573Leu) rs142609645 0.00007
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu) rs369947439 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.2743C>T (p.Arg915Cys) rs539652641 0.00007
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg) rs374930292 0.00007
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_001267550.2(TTN):c.3368C>G (p.Thr1123Ser) rs773799748 0.00007
NM_001267550.2(TTN):c.40141+6C>T rs750448649 0.00007
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln) rs376278449 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.54194G>A (p.Arg18065His) rs375895183 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln) rs397517651 0.00007
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 0.00007
NM_001267550.2(TTN):c.88117G>A (p.Glu29373Lys) rs762557803 0.00007
NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg) rs753036867 0.00007
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu) rs33997263 0.00007
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met) rs756469423 0.00007
NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp) rs201850303 0.00007
NM_001378030.1(CCDC78):c.389G>A (p.Arg130Lys) rs375016420 0.00007
NM_001382567.1(STIM1):c.1729G>A (p.Glu577Lys) rs371443357 0.00007
NM_001382567.1(STIM1):c.488C>A (p.Ala163Asp) rs199893056 0.00007
NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser) rs946201226 0.00007
NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser) rs372338218 0.00007
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=) rs754900547 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_002469.3(MYF6):c.683C>T (p.Ser228Leu) rs201098963 0.00007
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr) rs371274523 0.00007
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln) rs372970842 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile) rs886044270 0.00007
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349 0.00007
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg) rs540867293 0.00007
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn) rs746183666 0.00007
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile) rs141078955 0.00007
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn) rs147439455 0.00007
NM_017534.6(MYH2):c.4724A>C (p.Lys1575Thr) rs113713308 0.00007
NM_017534.6(MYH2):c.5171C>T (p.Thr1724Ile) rs202050465 0.00007
NM_017534.6(MYH2):c.5708G>A (p.Arg1903His) rs770302436 0.00007
NM_017534.6(MYH2):c.74T>C (p.Ile25Thr) rs372837852 0.00007
NM_020451.3(SELENON):c.253A>G (p.Met85Val) rs761605974 0.00007
NM_032790.4(ORAI1):c.884C>T (p.Thr295Met) rs555170508 0.00007
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) rs375322787 0.00007
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_152393.4(KLHL40):c.1793G>A (p.Arg598Gln) rs775821505 0.00007
NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala) rs755987796 0.00007
NM_198859.4(PRICKLE2):c.1937A>G (p.Asp646Gly) rs533891439 0.00007
NM_198859.4(PRICKLE2):c.2114G>C (p.Arg705Pro) rs760877594 0.00007
NM_198859.4(PRICKLE2):c.437C>T (p.Ala146Val) rs369686744 0.00007
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) rs374353973 0.00007
NM_000036.3(AMPD1):c.1292G>A (p.Arg431His) rs61757695 0.00006
NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys) rs587779370 0.00006
NM_000036.3(AMPD1):c.1807G>A (p.Val603Met) rs776521726 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000182.5(HADHA):c.975+6C>T rs766717752 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000183.3(HADHB):c.845G>A (p.Arg282His) rs140355426 0.00006
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_001101362.3(KBTBD13):c.1107C>G (p.Ile369Met) rs757616268 0.00006
NM_001101362.3(KBTBD13):c.305C>A (p.Thr102Lys) rs1321779623 0.00006
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025 0.00006
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile) rs368842783 0.00006
NM_001164508.2(NEB):c.1152C>T (p.Asp384=) rs767328072 0.00006
NM_001164508.2(NEB):c.2354A>G (p.His785Arg) rs370296542 0.00006
NM_001164508.2(NEB):c.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001164508.2(NEB):c.2515A>G (p.Thr839Ala) rs779630318 0.00006
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 0.00006
NM_001164508.2(NEB):c.78+6G>A rs376085885 0.00006
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln) rs557950249 0.00006
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys) rs758363933 0.00006
NM_001164508.2(NEB):c.9883C>T (p.Arg3295Trp) rs750990726 0.00006
NM_001256545.2(MEGF10):c.1009G>A (p.Gly337Ser) rs779799530 0.00006
NM_001256545.2(MEGF10):c.1012G>A (p.Ala338Thr) rs568794084 0.00006
NM_001256545.2(MEGF10):c.1435G>A (p.Gly479Arg) rs372163689 0.00006
NM_001256545.2(MEGF10):c.1959C>T (p.Gly653=) rs146017981 0.00006
NM_001256545.2(MEGF10):c.2347C>T (p.Arg783Trp) rs754251946 0.00006
NM_001256545.2(MEGF10):c.2749G>C (p.Gly917Arg) rs779588329 0.00006
NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser) rs200163743 0.00006
NM_001256545.2(MEGF10):c.350G>A (p.Arg117His) rs749238106 0.00006
NM_001256545.2(MEGF10):c.395G>A (p.Gly132Glu) rs765580552 0.00006
NM_001256545.2(MEGF10):c.451C>T (p.Arg151Trp) rs767672691 0.00006
NM_001267550.2(TTN):c.101218G>A (p.Gly33740Arg) rs536705240 0.00006
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val) rs149921607 0.00006
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr) rs764179161 0.00006
NM_001267550.2(TTN):c.102736C>T (p.Arg34246Cys) rs879047941 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln) rs778021095 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile) rs727505306 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.10435G>A (p.Gly3479Arg) rs746691102 0.00006
NM_001267550.2(TTN):c.104561T>G (p.Val34854Gly) rs768717312 0.00006
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr) rs771741670 0.00006
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) rs200123047 0.00006
NM_001267550.2(TTN):c.106025A>G (p.Tyr35342Cys) rs1060500560 0.00006
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu) rs551063889 0.00006
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala) rs368179478 0.00006
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp) rs377423256 0.00006
NM_001267550.2(TTN):c.12801A>T (p.Leu4267Phe) rs750553032 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.14999G>A (p.Arg5000His) rs377062348 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu) rs201672969 0.00006
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His) rs752226947 0.00006
NM_001267550.2(TTN):c.19697G>C (p.Gly6566Ala) rs1052515116 0.00006
NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly) rs772947420 0.00006
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val) rs763125654 0.00006
NM_001267550.2(TTN):c.2331C>G (p.Ile777Met) rs1157627413 0.00006
NM_001267550.2(TTN):c.25231G>A (p.Val8411Ile) rs760523669 0.00006
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser) rs369385294 0.00006
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met) rs368151971 0.00006
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser) rs776799144 0.00006
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala) rs766638714 0.00006
NM_001267550.2(TTN):c.29944G>A (p.Ala9982Thr) rs200745162 0.00006
NM_001267550.2(TTN):c.32161G>A (p.Ala10721Thr) rs753365187 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.33742+1G>T rs772114165 0.00006
NM_001267550.2(TTN):c.35082C>T (p.Gly11694=) rs377761863 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001267550.2(TTN):c.36865C>A (p.Arg12289Ser) rs1480219250 0.00006
NM_001267550.2(TTN):c.37099C>G (p.Pro12367Ala) rs973940125 0.00006
NM_001267550.2(TTN):c.38161G>T (p.Val12721Leu) rs794729416 0.00006
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe) rs774402932 0.00006
NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu) rs370520319 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.43501A>G (p.Thr14501Ala) rs764500643 0.00006
NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser) rs774245300 0.00006
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600 0.00006
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln) rs770389312 0.00006
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu) rs751929345 0.00006
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn) rs571524382 0.00006
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn) rs372881122 0.00006
NM_001267550.2(TTN):c.48296G>A (p.Arg16099Gln) rs376747673 0.00006
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys) rs748917057 0.00006
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn) rs199954570 0.00006
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr) rs372911542 0.00006
NM_001267550.2(TTN):c.49560A>T (p.Lys16520Asn) rs779658426 0.00006
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774 0.00006
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln) rs746384579 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln) rs758896047 0.00006
NM_001267550.2(TTN):c.53899T>A (p.Leu17967Met) rs761733751 0.00006
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln) rs794729458 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg) rs770499179 0.00006
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile) rs370118111 0.00006
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met) rs373153121 0.00006
NM_001267550.2(TTN):c.570A>T (p.Glu190Asp) rs753196873 0.00006
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val) rs138367112 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.59173G>A (p.Glu19725Lys) rs767601396 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.59707G>C (p.Asp19903His) rs374163882 0.00006
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu) rs727505345 0.00006
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp) rs727504479 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His) rs777176324 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) rs371581072 0.00006
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His) rs200217934 0.00006
NM_001267550.2(TTN):c.66105A>T (p.Lys22035Asn) rs373681189 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.68341G>A (p.Glu22781Lys) rs760286642 0.00006
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile) rs183056142 0.00006
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile) rs200878877 0.00006
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln) rs200191748 0.00006
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile) rs755669336 0.00006
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser) rs376256345 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys) rs201724962 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00006
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His) rs370137092 0.00006
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu) rs200489046 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln) rs764437671 0.00006
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile) rs377264123 0.00006
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr) rs200724395 0.00006
NM_001267550.2(TTN):c.86903A>G (p.His28968Arg) rs754679595 0.00006
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn) rs757300589 0.00006
NM_001267550.2(TTN):c.919G>A (p.Val307Met) rs371056974 0.00006
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) rs182422055 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His) rs776018262 0.00006
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr) rs373732722 0.00006
NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile) rs370918800 0.00006
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser) rs139992576 0.00006
NM_001267550.2(TTN):c.95305G>A (p.Val31769Ile) rs374445709 0.00006
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile) rs779663332 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97537C>T (p.Arg32513Cys) rs1279110183 0.00006
NM_001267550.2(TTN):c.97678C>T (p.Arg32560Cys) rs760762257 0.00006
NM_001267550.2(TTN):c.97949G>A (p.Cys32650Tyr) rs535612231 0.00006
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu) rs142108986 0.00006
NM_001368067.1(LDB3):c.324G>A (p.Val108=) rs397516556 0.00006
NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys) rs377201153 0.00006
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu) rs144640928 0.00006
NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met) rs142129985 0.00006
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln) rs368147684 0.00006
NM_001382567.1(STIM1):c.1937G>A (p.Arg646His) rs145197758 0.00006
NM_001458.5(FLNC):c.1589A>T (p.Asp530Val) rs1371853934 0.00006
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys) rs138663492 0.00006
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn) rs777061037 0.00006
NM_001458.5(FLNC):c.6005G>T (p.Gly2002Val) rs747796553 0.00006
NM_001843.4(CNTN1):c.1466A>T (p.Asn489Ile) rs573923461 0.00006
NM_001843.4(CNTN1):c.2183C>T (p.Ala728Val) rs201782849 0.00006
NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser) rs200796487 0.00006
NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg) rs773305634 0.00006
NM_001843.4(CNTN1):c.730A>G (p.Ile244Val) rs149305190 0.00006
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys) rs751779784 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001849.4(COL6A2):c.1053+6G>A rs373181368 0.00006
NM_001849.4(COL6A2):c.1071G>A (p.Pro357=) rs746727003 0.00006
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln) rs368588676 0.00006
NM_001849.4(COL6A2):c.2422+6C>T rs371950486 0.00006
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703 0.00006
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser) rs750027302 0.00006
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His) rs544436881 0.00006
NM_001927.4(DES):c.299A>C (p.Glu100Ala) rs762738069 0.00006
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) rs752992299 0.00006
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser) rs374891900 0.00006
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe) rs748683825 0.00006
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) rs377620054 0.00006
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys) rs781660628 0.00006
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala) rs373509391 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val) rs778458923 0.00006
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu) rs372281922 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln) rs895701604 0.00006
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser) rs144152285 0.00006
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro) rs373259425 0.00006
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799 0.00006
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn) rs368397177 0.00006
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637 0.00006
NM_004370.6(COL12A1):c.7698-3C>T rs760246080 0.00006
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly) rs145810515 0.00006
NM_006063.3(KLHL41):c.1757G>A (p.Arg586His) rs762482219 0.00006
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) rs547547946 0.00006
NM_007078.3(LDB3):c.1430A>G (p.Tyr477Cys) rs529178109 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp) rs369398522 0.00006
NM_017534.6(MYH2):c.1359G>C (p.Lys453Asn) rs138998538 0.00006
NM_017534.6(MYH2):c.2391G>T (p.Arg797Ser) rs374943306 0.00006
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu) rs201925793 0.00006
NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp) rs200134368 0.00006
NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr) rs143809867 0.00006
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe) rs138265883 0.00006
NM_017534.6(MYH2):c.3719A>G (p.Asn1240Ser) rs779830887 0.00006
NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val) rs777266089 0.00006
NM_017534.6(MYH2):c.4213G>T (p.Ala1405Ser) rs199632177 0.00006
NM_017534.6(MYH2):c.4361A>G (p.Asn1454Ser) rs371923594 0.00006
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys) rs144934663 0.00006
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala) rs912089271 0.00006
NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser) rs761873230 0.00006
NM_020451.3(SELENON):c.1191G>T (p.Gln397His) rs1311923186 0.00006
NM_020451.3(SELENON):c.1636A>G (p.Ile546Val) rs749237378 0.00006
NM_020451.3(SELENON):c.501G>A (p.Pro167=) rs752707301 0.00006
NM_032790.4(ORAI1):c.37A>T (p.Ser13Cys) rs1290572755 0.00006
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) rs747660857 0.00006
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) rs780918654 0.00006
NM_139343.3(BIN1):c.1462-3C>T rs200384643 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_145064.3(STAC3):c.636G>C (p.Glu212Asp) rs201567526 0.00006
NM_152393.4(KLHL40):c.1306G>A (p.Asp436Asn) rs372145157 0.00006
NM_152393.4(KLHL40):c.1477C>G (p.Leu493Val) rs375270697 0.00006
NM_152393.4(KLHL40):c.182G>A (p.Arg61His) rs778276929 0.00006
NM_152393.4(KLHL40):c.355A>G (p.Ile119Val) rs1245898945 0.00006
NM_198271.5(LMOD3):c.660G>C (p.Lys220Asn) rs778737371 0.00006
NM_198859.4(PRICKLE2):c.1457T>C (p.Met486Thr) rs751661338 0.00006
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met) rs368904012 0.00006
NM_198859.4(PRICKLE2):c.2275A>C (p.Asn759His) rs565155814 0.00006
NM_198859.4(PRICKLE2):c.638G>A (p.Arg213Gln) rs775154480 0.00006
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) rs143303551 0.00005
NM_000183.3(HADHB):c.1000A>C (p.Lys334Gln) rs774054520 0.00005
NM_001101362.3(KBTBD13):c.1333C>T (p.Pro445Ser) rs778885479 0.00005
NM_001101362.3(KBTBD13):c.812C>T (p.Pro271Leu) rs944158562 0.00005
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys) rs374359052 0.00005
NM_001164508.2(NEB):c.10675C>T (p.Arg3559Cys) rs751938843 0.00005
NM_001164508.2(NEB):c.11612A>G (p.Lys3871Arg) rs761955993 0.00005
NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299 0.00005
NM_001164508.2(NEB):c.12769C>T (p.Arg4257Cys) rs1376744526 0.00005
NM_001164508.2(NEB):c.13059+4C>T rs1253831275 0.00005
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle) rs765184893 0.00005
NM_001164508.2(NEB):c.18694-3T>C rs370200484 0.00005
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453 0.00005
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg) rs200813844 0.00005
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.9388C>T (p.Arg3130Trp) rs779778326 0.00005
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His) rs565304206 0.00005
NM_001256545.2(MEGF10):c.3277C>T (p.Arg1093Cys) rs758348725 0.00005
NM_001256545.2(MEGF10):c.916C>T (p.Arg306Trp) rs371078929 0.00005
NM_001256545.2(MEGF10):c.917G>A (p.Arg306Gln) rs986353158 0.00005
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His) rs192391568 0.00005
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His) rs753658469 0.00005
NM_001267550.2(TTN):c.101439G>A (p.Lys33813=) rs72629781 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.102173G>A (p.Arg34058Lys) rs886039007 0.00005
NM_001267550.2(TTN):c.102424A>C (p.Ile34142Leu) rs528796532 0.00005
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg) rs191522469 0.00005
NM_001267550.2(TTN):c.103786C>T (p.Arg34596Cys) rs372754970 0.00005
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His) rs756575734 0.00005
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala) rs373369136 0.00005
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro) rs774004409 0.00005
NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro) rs372116188 0.00005
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val) rs769369764 0.00005
NM_001267550.2(TTN):c.11362G>A (p.Glu3788Lys) rs540469851 0.00005
NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu) rs779033634 0.00005
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala) rs376799249 0.00005
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu) rs769165258 0.00005
NM_001267550.2(TTN):c.1800+1G>A rs397517497 0.00005
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219 0.00005
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu) rs201586695 0.00005
NM_001267550.2(TTN):c.208G>A (p.Val70Met) rs772248060 0.00005
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052 0.00005
NM_001267550.2(TTN):c.24358C>T (p.Pro8120Ser) rs745913661 0.00005
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu) rs772596633 0.00005
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00005
NM_001267550.2(TTN):c.28205G>A (p.Arg9402His) rs773986121 0.00005
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln) rs189431308 0.00005
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00005
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile) rs372371333 0.00005
NM_001267550.2(TTN):c.32555-2A>C rs781581062 0.00005
NM_001267550.2(TTN):c.33049G>A (p.Glu11017Lys) rs753930002 0.00005
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00005
NM_001267550.2(TTN):c.39427G>A (p.Val13143Ile) rs375956503 0.00005
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn) rs543338451 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp) rs752970602 0.00005
NM_001267550.2(TTN):c.42023C>T (p.Pro14008Leu) rs751709914 0.00005
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) rs146241078 0.00005
NM_001267550.2(TTN):c.43355G>T (p.Arg14452Ile) rs528741819 0.00005
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His) rs746380621 0.00005
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met) rs759373140 0.00005
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln) rs752671402 0.00005
NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp) rs147695336 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp) rs201802447 0.00005
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp) rs764950995 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser) rs199787097 0.00005
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala) rs771977738 0.00005
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val) rs1187337182 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys) rs371060708 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys) rs756303390 0.00005
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys) rs376455983 0.00005
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe) rs779303152 0.00005
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) rs201223583 0.00005
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu) rs534340303 0.00005
NM_001267550.2(TTN):c.69376G>C (p.Val23126Leu) rs756671149 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr) rs183015944 0.00005
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His) rs371615296 0.00005
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His) rs371910831 0.00005
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr) rs780465670 0.00005
NM_001267550.2(TTN):c.83630G>A (p.Arg27877His) rs371345921 0.00005
NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp) rs377540780 0.00005
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg) rs545841306 0.00005
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys) rs774978209 0.00005
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) rs774191975 0.00005
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser) rs761251825 0.00005
NM_001267550.2(TTN):c.87449T>C (p.Ile29150Thr) rs373106927 0.00005
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile) rs761591533 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn) rs376737897 0.00005
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro) rs568322187 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr) rs555405542 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.9509T>C (p.Val3170Ala) rs779339626 0.00005
NM_001267550.2(TTN):c.95716C>G (p.Pro31906Ala) rs755949122 0.00005
NM_001267550.2(TTN):c.96182T>C (p.Ile32061Thr) rs376202976 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu) rs965156924 0.00005
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg) rs147903846 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr) rs755513516 0.00005
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala) rs749951287 0.00005
NM_001378030.1(CCDC78):c.711G>C (p.Lys237Asn) rs143439721 0.00005
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile) rs752077571 0.00005
NM_001382567.1(STIM1):c.1394G>A (p.Arg465His) rs375914426 0.00005
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys) rs142239530 0.00005
NM_001382567.1(STIM1):c.1765C>T (p.Arg589Trp) rs747547917 0.00005
NM_001458.5(FLNC):c.2272G>A (p.Val758Met) rs371418145 0.00005
NM_001458.5(FLNC):c.2425G>A (p.Val809Met) rs775770671 0.00005
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu) rs963838554 0.00005
NM_001458.5(FLNC):c.3790G>A (p.Gly1264Ser) rs201335143 0.00005
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe) rs768635501 0.00005
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys) rs965589915 0.00005
NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp) rs745648230 0.00005
NM_001458.5(FLNC):c.517G>T (p.Val173Leu) rs376235207 0.00005
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp) rs374794518 0.00005
NM_001843.4(CNTN1):c.1444T>C (p.Tyr482His) rs769284324 0.00005
NM_001843.4(CNTN1):c.2426G>C (p.Ser809Thr) rs537681547 0.00005
NM_001843.4(CNTN1):c.2917G>A (p.Val973Ile) rs768847583 0.00005
NM_001843.4(CNTN1):c.495A>G (p.Pro165=) rs751830078 0.00005
NM_001849.4(COL6A2):c.116-3C>T rs767597831 0.00005
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser) rs1035908319 0.00005
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp) rs747089603 0.00005
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr) rs771749652 0.00005
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys) rs374196682 0.00005
NM_001849.4(COL6A2):c.638G>A (p.Arg213His) rs368064647 0.00005
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) rs59962885 0.00005
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_003283.6(TNNT1):c.551G>A (p.Arg184His) rs759548188 0.00005
NM_003283.6(TNNT1):c.725C>T (p.Ala242Val) rs779112211 0.00005
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772 0.00005
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr) rs1282623859 0.00005
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) rs772325115 0.00005
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu) rs754323567 0.00005
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys) rs144451523 0.00005
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321 0.00005
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996 0.00005
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007 0.00005
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys) rs957169726 0.00005
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) rs397517211 0.00005
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln) rs762985970 0.00005
NM_007078.3(LDB3):c.1654G>A (p.Gly552Ser) rs771007816 0.00005
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly) rs567014755 0.00005
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met) rs376478405 0.00005
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His) rs781136210 0.00005
NM_017534.6(MYH2):c.3751C>G (p.Leu1251Val) rs774428848 0.00005
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln) rs756811670 0.00005
NM_017534.6(MYH2):c.3883C>T (p.Arg1295Cys) rs370424529 0.00005
NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln) rs145438977 0.00005
NM_017534.6(MYH2):c.5002C>T (p.Arg1668Trp) rs569489518 0.00005
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val) rs377385495 0.00005
NM_017534.6(MYH2):c.5512C>T (p.Arg1838Cys) rs368695212 0.00005
NM_020451.3(SELENON):c.1152C>T (p.Ser384=) rs546136806 0.00005
NM_020451.3(SELENON):c.989G>A (p.Arg330Gln) rs758037272 0.00005
NM_032790.4(ORAI1):c.726C>G (p.Ile242Met) rs782656834 0.00005
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val) rs140410496 0.00005
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser) rs745758782 0.00005
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys) rs147655157 0.00005
NM_139343.3(BIN1):c.52G>A (p.Val18Met) rs566597765 0.00005
NM_145064.3(STAC3):c.545G>A (p.Arg182His) rs200605475 0.00005
NM_152393.4(KLHL40):c.1595T>C (p.Ile532Thr) rs368161576 0.00005
NM_198859.4(PRICKLE2):c.1406G>A (p.Arg469Gln) rs746640172 0.00005
NM_198859.4(PRICKLE2):c.1601C>T (p.Thr534Met) rs559885674 0.00005
NM_000036.3(AMPD1):c.-33T>C rs747318529 0.00004
NM_000036.3(AMPD1):c.103C>T (p.Arg35Cys) rs139512772 0.00004
NM_000036.3(AMPD1):c.1112G>A (p.Arg371His) rs146437677 0.00004
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) rs1263217341 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000036.3(AMPD1):c.394G>A (p.Asp132Asn) rs149160130 0.00004
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys) rs376201207 0.00004
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) rs768332999 0.00004
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) rs139003085 0.00004
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys) rs769821069 0.00004
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr) rs753722938 0.00004
NM_000182.5(HADHA):c.316A>G (p.Met106Val) rs143122454 0.00004
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp) rs762296285 0.00004
NM_000182.5(HADHA):c.896C>A (p.Pro299His) rs905722226 0.00004
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val) rs374840025 0.00004
NM_000183.3(HADHB):c.266A>G (p.His89Arg) rs373356931 0.00004
NM_001101362.3(KBTBD13):c.483C>A (p.Ser161Arg) rs1464339145 0.00004
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys) rs374471394 0.00004
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.12062T>C (p.Ile4021Thr) rs370068571 0.00004
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930 0.00004
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701 0.00004
NM_001164508.2(NEB):c.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile) rs776012642 0.00004
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser) rs531618541 0.00004
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys) rs369642754 0.00004
NM_001164508.2(NEB):c.23346+5G>A rs778663301 0.00004
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu) rs541908352 0.00004
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln) rs770024830 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr) rs563173814 0.00004
NM_001164508.2(NEB):c.4127A>G (p.Asn1376Ser) rs1309733626 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.6075+3A>C rs986325764 0.00004
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met) rs905660353 0.00004
NM_001164508.2(NEB):c.7906G>A (p.Asp2636Asn) rs760643814 0.00004
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe) rs372248515 0.00004
NM_001164508.2(NEB):c.8265+3A>T rs374475460 0.00004
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr) rs990382620 0.00004
NM_001164508.2(NEB):c.8582T>C (p.Leu2861Ser) rs529735446 0.00004
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn) rs767512294 0.00004
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn) rs779416595 0.00004
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu) rs780293943 0.00004
NM_001256545.2(MEGF10):c.1044G>T (p.Glu348Asp) rs370219469 0.00004
NM_001256545.2(MEGF10):c.1302C>G (p.Phe434Leu) rs1408693633 0.00004
NM_001256545.2(MEGF10):c.1621C>T (p.Arg541Cys) rs866094740 0.00004
NM_001256545.2(MEGF10):c.1654C>T (p.Pro552Ser) rs978960737 0.00004
NM_001256545.2(MEGF10):c.2477C>T (p.Ala826Val) rs150095036 0.00004
NM_001256545.2(MEGF10):c.2590A>G (p.Ile864Val) rs780877446 0.00004
NM_001256545.2(MEGF10):c.2942C>T (p.Pro981Leu) rs1064793648 0.00004
NM_001256545.2(MEGF10):c.2968C>T (p.Leu990Phe) rs750829562 0.00004
NM_001256545.2(MEGF10):c.304G>A (p.Gly102Arg) rs200703478 0.00004
NM_001256545.2(MEGF10):c.530G>A (p.Arg177His) rs373950666 0.00004
NM_001256545.2(MEGF10):c.632G>A (p.Arg211His) rs377520032 0.00004
NM_001256545.2(MEGF10):c.863C>T (p.Thr288Met) rs781179892 0.00004
NM_001256545.2(MEGF10):c.974A>G (p.Gln325Arg) rs764333715 0.00004
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) rs745406517 0.00004
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys) rs748104690 0.00004
NM_001267550.2(TTN):c.100826G>A (p.Arg33609Gln) rs771243505 0.00004
NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys) rs199594729 0.00004
NM_001267550.2(TTN):c.10127C>T (p.Ser3376Leu) rs781368765 0.00004
NM_001267550.2(TTN):c.101707C>T (p.Arg33903Cys) rs772574722 0.00004
NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr) rs762498249 0.00004
NM_001267550.2(TTN):c.101953G>C (p.Glu33985Gln) rs534613934 0.00004
NM_001267550.2(TTN):c.102272G>A (p.Arg34091Gln) rs763708375 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln) rs199932621 0.00004
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) rs751914956 0.00004
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met) rs755986938 0.00004
NM_001267550.2(TTN):c.104333C>T (p.Thr34778Met) rs762158917 0.00004
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp) rs879243057 0.00004
NM_001267550.2(TTN):c.104694A>C (p.Arg34898Ser) rs755502219 0.00004
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu) rs886042785 0.00004
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.106385A>G (p.Gln35462Arg) rs376392819 0.00004
NM_001267550.2(TTN):c.106531+6T>C rs772189154 0.00004
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile) rs754459138 0.00004
NM_001267550.2(TTN):c.106975G>A (p.Asp35659Asn) rs878992336 0.00004
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388 0.00004
NM_001267550.2(TTN):c.11843G>A (p.Arg3948His) rs775618077 0.00004
NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn) rs747907234 0.00004
NM_001267550.2(TTN):c.13829C>G (p.Thr4610Arg) rs748210214 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.15500C>T (p.Pro5167Leu) rs730880237 0.00004
NM_001267550.2(TTN):c.15749C>T (p.Thr5250Ile) rs759384825 0.00004
NM_001267550.2(TTN):c.15947C>T (p.Ala5316Val) rs879242937 0.00004
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser) rs752924679 0.00004
NM_001267550.2(TTN):c.16118C>A (p.Thr5373Asn) rs1057103177 0.00004
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn) rs774503024 0.00004
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) rs794727755 0.00004
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg) rs774937703 0.00004
NM_001267550.2(TTN):c.16961T>G (p.Val5654Gly) rs763581306 0.00004
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) rs548015673 0.00004
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His) rs376012117 0.00004
NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile) rs367685188 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala) rs878854290 0.00004
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser) rs200954184 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.22952A>G (p.Glu7651Gly) rs1461872954 0.00004
NM_001267550.2(TTN):c.2358C>G (p.His786Gln) rs199507913 0.00004
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00004
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn) rs397517506 0.00004
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658 0.00004
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp) rs190600127 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile) rs769996978 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.29231G>A (p.Arg9744His) rs760305440 0.00004
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr) rs201635835 0.00004
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr) rs369094355 0.00004
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr) rs886055288 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) rs769226745 0.00004
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn) rs746722623 0.00004
NM_001267550.2(TTN):c.32194G>A (p.Glu10732Lys) rs374348069 0.00004
NM_001267550.2(TTN):c.32735C>T (p.Pro10912Leu) rs781655223 0.00004
NM_001267550.2(TTN):c.3319G>A (p.Gly1107Ser) rs767741769 0.00004
NM_001267550.2(TTN):c.33826+4C>T rs750851792 0.00004
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile) rs369025108 0.00004
NM_001267550.2(TTN):c.34735C>T (p.Pro11579Ser) rs754511830 0.00004
NM_001267550.2(TTN):c.34772C>T (p.Ala11591Val) rs72650052 0.00004
NM_001267550.2(TTN):c.34786+3A>G rs1417271874 0.00004
NM_001267550.2(TTN):c.34930+2T>C rs749252830 0.00004
NM_001267550.2(TTN):c.34952A>C (p.Lys11651Thr) rs373656002 0.00004
NM_001267550.2(TTN):c.35194G>A (p.Glu11732Lys) rs939014361 0.00004
NM_001267550.2(TTN):c.35312C>T (p.Pro11771Leu) rs373508919 0.00004
NM_001267550.2(TTN):c.36158C>T (p.Thr12053Met) rs761169549 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001267550.2(TTN):c.36802C>G (p.Pro12268Ala) rs1461810893 0.00004
NM_001267550.2(TTN):c.37496A>C (p.Lys12499Thr) rs1367017667 0.00004
NM_001267550.2(TTN):c.38321T>C (p.Val12774Ala) rs747414237 0.00004
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00004
NM_001267550.2(TTN):c.39276G>A (p.Pro13092=) rs369002632 0.00004
NM_001267550.2(TTN):c.39887C>G (p.Pro13296Arg) rs760464072 0.00004
NM_001267550.2(TTN):c.40109T>C (p.Ile13370Thr) rs904655100 0.00004
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001267550.2(TTN):c.40636C>A (p.Pro13546Thr) rs1393076582 0.00004
NM_001267550.2(TTN):c.41309C>T (p.Thr13770Met) rs774214497 0.00004
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val) rs371426048 0.00004
NM_001267550.2(TTN):c.41908C>T (p.Pro13970Ser) rs189799340 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.43045G>A (p.Gly14349Ser) rs781452930 0.00004
NM_001267550.2(TTN):c.44435G>A (p.Arg14812His) rs375574483 0.00004
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn) rs376144178 0.00004
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 0.00004
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp) rs371621174 0.00004
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) rs72677226 0.00004
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His) rs367996763 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys) rs772625773 0.00004
NM_001267550.2(TTN):c.49698A>G (p.Thr16566=) rs778112130 0.00004
NM_001267550.2(TTN):c.50954C>T (p.Thr16985Ile) rs116765281 0.00004
NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val) rs188395969 0.00004
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe) rs397517641 0.00004
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg) rs368846015 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro) rs370469461 0.00004
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val) rs773447539 0.00004
NM_001267550.2(TTN):c.53561T>A (p.Ile17854Asn) rs375796420 0.00004
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly) rs397517615 0.00004
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn) rs765148928 0.00004
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu) rs370583314 0.00004
NM_001267550.2(TTN):c.54819G>A (p.Pro18273=) rs373624715 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.56534C>T (p.Thr18845Met) rs371571153 0.00004
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr) rs368419410 0.00004
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys) rs200544272 0.00004
NM_001267550.2(TTN):c.56822C>T (p.Ala18941Val) rs754264431 0.00004
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn) rs576158850 0.00004
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp) rs556286196 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp) rs397517640 0.00004
NM_001267550.2(TTN):c.60869T>C (p.Val20290Ala) rs550655820 0.00004
NM_001267550.2(TTN):c.62479T>C (p.Ser20827Pro) rs1001628726 0.00004
NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys) rs878916429 0.00004
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His) rs777095470 0.00004
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr) rs772411127 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.64411C>T (p.Leu21471Phe) rs774609456 0.00004
NM_001267550.2(TTN):c.64681G>A (p.Gly21561Ser) rs200355808 0.00004
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His) rs375149365 0.00004
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp) rs371856109 0.00004
NM_001267550.2(TTN):c.65986C>T (p.Arg21996Cys) rs577114038 0.00004
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu) rs768057735 0.00004
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) rs757537780 0.00004
NM_001267550.2(TTN):c.66778G>C (p.Glu22260Gln) rs553988103 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile) rs775731759 0.00004
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=) rs755897447 0.00004
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg) rs761210578 0.00004
NM_001267550.2(TTN):c.68599T>C (p.Tyr22867His) rs368484355 0.00004
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) rs771710562 0.00004
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His) rs370257707 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00004
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr) rs373765469 0.00004
NM_001267550.2(TTN):c.71399G>A (p.Arg23800His) rs537705563 0.00004
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His) rs374712231 0.00004
NM_001267550.2(TTN):c.73148C>T (p.Ser24383Leu) rs368415251 0.00004
NM_001267550.2(TTN):c.73292A>T (p.Asp24431Val) rs754343858 0.00004
NM_001267550.2(TTN):c.73822G>A (p.Ala24608Thr) rs750166986 0.00004
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala) rs200723435 0.00004
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) rs370070176 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly) rs879087699 0.00004
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala) rs397517712 0.00004
NM_001267550.2(TTN):c.7816G>A (p.Ala2606Thr) rs375286376 0.00004
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp) rs369019463 0.00004
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr) rs781076407 0.00004
NM_001267550.2(TTN):c.80446G>A (p.Val26816Ile) rs774092000 0.00004
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp) rs779878975 0.00004
NM_001267550.2(TTN):c.80942G>A (p.Arg26981Gln) rs768308408 0.00004
NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg) rs878898668 0.00004
NM_001267550.2(TTN):c.81545T>A (p.Ile27182Asn) rs373448447 0.00004
NM_001267550.2(TTN):c.82474C>T (p.Arg27492Cys) rs767221784 0.00004
NM_001267550.2(TTN):c.82606G>A (p.Glu27536Lys) rs745974517 0.00004
NM_001267550.2(TTN):c.83032G>A (p.Asp27678Asn) rs781128731 0.00004
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys) rs545954394 0.00004
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His) rs570847832 0.00004
NM_001267550.2(TTN):c.84383G>A (p.Arg28128His) rs367596354 0.00004
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu) rs375549179 0.00004
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile) rs368615862 0.00004
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=) rs879222360 0.00004
NM_001267550.2(TTN):c.86420G>A (p.Arg28807His) rs375800916 0.00004
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369 0.00004
NM_001267550.2(TTN):c.88666C>T (p.Arg29556Trp) rs201657835 0.00004
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr) rs201592005 0.00004
NM_001267550.2(TTN):c.9116C>T (p.Thr3039Ile) rs774523194 0.00004
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val) rs202090888 0.00004
NM_001267550.2(TTN):c.92363G>A (p.Gly30788Asp) rs754125601 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile) rs758006837 0.00004
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn) rs267599025 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln) rs369835255 0.00004
NM_001267550.2(TTN):c.96310+4A>T rs781222763 0.00004
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys) rs55915651 0.00004
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly) rs55634230 0.00004
NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile) rs533651182 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 0.00004
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys) rs374883160 0.00004
NM_001267550.2(TTN):c.99344G>A (p.Gly33115Asp) rs879247634 0.00004
NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys) rs369470035 0.00004
NM_001368067.1(LDB3):c.770C>T (p.Thr257Met) rs375798002 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser) rs754906673 0.00004
NM_001378030.1(CCDC78):c.1177C>T (p.Arg393Trp) rs767496331 0.00004
NM_001378030.1(CCDC78):c.1233G>A (p.Leu411=) rs893572894 0.00004
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=) rs142180051 0.00004
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln) rs201924732 0.00004
NM_001378030.1(CCDC78):c.557G>A (p.Arg186His) rs762337009 0.00004
NM_001378030.1(CCDC78):c.751G>A (p.Ala251Thr) rs371030168 0.00004
NM_001378030.1(CCDC78):c.845G>A (p.Arg282Gln) rs201634385 0.00004
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys) rs764179609 0.00004
NM_001382567.1(STIM1):c.1410C>G (p.His470Gln) rs748403696 0.00004
NM_001382567.1(STIM1):c.1597C>T (p.Arg533Cys) rs149456514 0.00004
NM_001382567.1(STIM1):c.1766G>A (p.Arg589Gln) rs199503470 0.00004
NM_001382567.1(STIM1):c.1866C>G (p.Asp622Glu) rs776241052 0.00004
NM_001382567.1(STIM1):c.392A>G (p.Asn131Ser) rs201274425 0.00004
NM_001458.5(FLNC):c.1082G>A (p.Arg361His) rs752888774 0.00004
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn) rs371913931 0.00004
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser) rs770861991 0.00004
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser) rs762248114 0.00004
NM_001458.5(FLNC):c.2519G>A (p.Arg840His) rs376472014 0.00004
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg) rs768103657 0.00004
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp) rs555764780 0.00004
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile) rs373573447 0.00004
NM_001458.5(FLNC):c.4003G>A (p.Val1335Met) rs368220468 0.00004
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) rs746731567 0.00004
NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys) rs1012086057 0.00004
NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu) rs754224673 0.00004
NM_001458.5(FLNC):c.4951+3G>A rs377554196 0.00004
NM_001458.5(FLNC):c.5709G>T (p.Glu1903Asp) rs1279073825 0.00004
NM_001458.5(FLNC):c.5792G>A (p.Arg1931His) rs780685346 0.00004
NM_001458.5(FLNC):c.5945G>A (p.Arg1982His) rs375046429 0.00004
NM_001458.5(FLNC):c.6157G>A (p.Glu2053Lys) rs761922251 0.00004
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=) rs527921534 0.00004
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu) rs746349463 0.00004
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn) rs2639142 0.00004
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu) rs1318316375 0.00004
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys) rs781212262 0.00004
NM_001843.4(CNTN1):c.1088G>A (p.Arg363Gln) rs769750595 0.00004
NM_001843.4(CNTN1):c.330A>T (p.Gly110=) rs150601046 0.00004
NM_001843.4(CNTN1):c.826C>T (p.Arg276Trp) rs144047921 0.00004
NM_001843.4(CNTN1):c.971G>A (p.Arg324Lys) rs148624625 0.00004
NM_001848.3(COL6A1):c.1236+5G>A rs376327142 0.00004
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln) rs761729281 0.00004
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu) rs746962124 0.00004
NM_001848.3(COL6A1):c.1461+4A>G rs201372759 0.00004
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) rs781031251 0.00004
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn) rs1372696070 0.00004
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg) rs763495943 0.00004
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=) rs772673965 0.00004
NM_001848.3(COL6A1):c.903+4C>T rs200380846 0.00004
NM_001848.3(COL6A1):c.96G>A (p.Gln32=) rs754988212 0.00004
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg) rs768681228 0.00004
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679 0.00004
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829 0.00004
NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys) rs776748046 0.00004
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln) rs768933697 0.00004
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His) rs145140058 0.00004
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg) rs199913294 0.00004
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His) rs554257211 0.00004
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952 0.00004
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) rs376564984 0.00004
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp) rs201470058 0.00004
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val) rs747347320 0.00004
NM_001849.4(COL6A2):c.950G>A (p.Arg317His) rs373782637 0.00004
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser) rs745678446 0.00004
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_001927.4(DES):c.268G>C (p.Asp90His) rs1267102255 0.00004
NM_001927.4(DES):c.662C>T (p.Ala221Val) rs746814065 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 0.00004
NM_002469.3(MYF6):c.220C>T (p.Pro74Ser) rs996997577 0.00004
NM_003283.6(TNNT1):c.562G>A (p.Glu188Lys) rs201519507 0.00004
NM_003283.6(TNNT1):c.566G>A (p.Arg189His) rs770079408 0.00004
NM_003283.6(TNNT1):c.73+6G>A rs1056384260 0.00004
NM_003283.6(TNNT1):c.802G>A (p.Ala268Thr) rs200340030 0.00004
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val) rs765180271 0.00004
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg) rs141493530 0.00004
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp) rs397514541 0.00004
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg) rs370291114 0.00004
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn) rs757176672 0.00004
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val) rs750327309 0.00004
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr) rs1042170 0.00004
NM_004168.4(SDHA):c.1930G>A (p.Val644Met) rs3211483 0.00004
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys) rs375396913 0.00004
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619 0.00004
NM_004168.4(SDHA):c.448G>A (p.Val150Met) rs542980860 0.00004
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) rs780064103 0.00004
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn) rs755432673 0.00004
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) rs147014102 0.00004
NM_004281.4(BAG3):c.1157C>A (p.Ser386Tyr) rs756178548 0.00004
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu) rs1374652846 0.00004
NM_004281.4(BAG3):c.1625C>T (p.Ala542Val) rs770920565 0.00004
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe) rs780615753 0.00004
NM_004281.4(BAG3):c.316C>T (p.Arg106Trp) rs767341152 0.00004
NM_004281.4(BAG3):c.34G>A (p.Val12Met) rs367917821 0.00004
NM_004281.4(BAG3):c.679C>G (p.Gln227Glu) rs149517238 0.00004
NM_004281.4(BAG3):c.743A>G (p.His248Arg) rs369947845 0.00004
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn) rs754387872 0.00004
NM_004369.4(COL6A3):c.3070+6G>A rs761124398 0.00004
NM_004369.4(COL6A3):c.3545C>T (p.Pro1182Leu) rs768064422 0.00004
NM_004369.4(COL6A3):c.3679+5G>T rs138878144 0.00004
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp) rs577927810 0.00004
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg) rs150321587 0.00004
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn) rs762035107 0.00004
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser) rs771489087 0.00004
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln) rs145561490 0.00004
NM_004369.4(COL6A3):c.8567+2dup rs776144262 0.00004
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861 0.00004
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser) rs776633189 0.00004
NM_004370.6(COL12A1):c.2164+6A>T rs746467248 0.00004
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val) rs368773405 0.00004
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val) rs944222774 0.00004
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile) rs374525546 0.00004
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile) rs772992461 0.00004
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser) rs759692428 0.00004
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His) rs748487098 0.00004
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala) rs760315104 0.00004
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=) rs754929219 0.00004
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=) rs751540913 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195 0.00004
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser) rs747966606 0.00004
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522 0.00004
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser) rs772870762 0.00004
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr) rs773855825 0.00004
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val) rs1199162597 0.00004
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln) rs756809634 0.00004
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu) rs376161354 0.00004
NM_006063.3(KLHL41):c.1482A>T (p.Lys494Asn) rs778531652 0.00004
NM_006063.3(KLHL41):c.208A>G (p.Lys70Glu) rs766504219 0.00004
NM_006063.3(KLHL41):c.833T>C (p.Val278Ala) rs751923233 0.00004
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_006790.3(MYOT):c.593T>C (p.Val198Ala) rs776439973 0.00004
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) rs756669574 0.00004
NM_006790.3(MYOT):c.656G>A (p.Arg219Gln) rs745792335 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser) rs730880129 0.00004
NM_007078.3(LDB3):c.1667A>G (p.Asn556Ser) rs372583830 0.00004
NM_007078.3(LDB3):c.1972G>A (p.Glu658Lys) rs760563152 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_007078.3(LDB3):c.407C>T (p.Pro136Leu) rs772887402 0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val) rs397517224 0.00004
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg) rs199739130 0.00004
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys) rs374168618 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606 0.00004
NM_017534.6(MYH2):c.1228G>A (p.Gly410Ser) rs146229690 0.00004
NM_017534.6(MYH2):c.193G>C (p.Glu65Gln) rs767472238 0.00004
NM_017534.6(MYH2):c.2068A>G (p.Met690Val) rs375334939 0.00004
NM_017534.6(MYH2):c.2090A>G (p.His697Arg) rs753195074 0.00004
NM_017534.6(MYH2):c.343A>G (p.Ile115Val) rs781687668 0.00004
NM_017534.6(MYH2):c.3805G>C (p.Glu1269Gln) rs201489001 0.00004
NM_017534.6(MYH2):c.4094G>A (p.Arg1365Lys) rs745629813 0.00004
NM_017534.6(MYH2):c.4556C>T (p.Thr1519Met) rs138796340 0.00004
NM_017534.6(MYH2):c.5025A>C (p.Glu1675Asp) rs374743981 0.00004
NM_017534.6(MYH2):c.5045G>A (p.Arg1682His) rs145099248 0.00004
NM_017534.6(MYH2):c.5105A>G (p.Glu1702Gly) rs769912069 0.00004
NM_017534.6(MYH2):c.5303C>G (p.Ala1768Gly) rs151021565 0.00004
NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr) rs550869991 0.00004
NM_017534.6(MYH2):c.5539C>T (p.Arg1847Cys) rs774045866 0.00004
NM_017534.6(MYH2):c.5791C>T (p.Arg1931Trp) rs544066673 0.00004
NM_020451.3(SELENON):c.10G>C (p.Ala4Pro) rs1371866855 0.00004
NM_020451.3(SELENON):c.1129G>A (p.Val377Met) rs369709974 0.00004
NM_020451.3(SELENON):c.1363G>T (p.Ala455Ser) rs374687219 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_020451.3(SELENON):c.183+14C>G rs794726949 0.00004
NM_020451.3(SELENON):c.392T>G (p.Leu131Arg) rs774592112 0.00004
NM_020451.3(SELENON):c.417G>A (p.Ala139=) rs535581420 0.00004
NM_032790.4(ORAI1):c.1A>T (p.Met1Leu) rs797044624 0.00004
NM_032790.4(ORAI1):c.215A>G (p.Gln72Arg) rs1411464557 0.00004
NM_032790.4(ORAI1):c.395C>G (p.Ala132Gly) rs782478364 0.00004
NM_032790.4(ORAI1):c.682G>A (p.Gly228Ser) rs377456337 0.00004
NM_032790.4(ORAI1):c.871G>C (p.Asp291His) rs781960958 0.00004
NM_138638.5(CFL2):c.93G>C (p.Lys31Asn) rs757341071 0.00004
NM_139343.3(BIN1):c.1371+1G>T rs556129959 0.00004
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00004
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn) rs772786604 0.00004
NM_139343.3(BIN1):c.1674+3G>T rs1420732725 0.00004
NM_139343.3(BIN1):c.839C>T (p.Thr280Met) rs201872255 0.00004
NM_139343.3(BIN1):c.866C>T (p.Ala289Val) rs771112840 0.00004
NM_139343.3(BIN1):c.968C>T (p.Thr323Met) rs763810794 0.00004
NM_145064.3(STAC3):c.1022C>T (p.Ala341Val) rs753014378 0.00004
NM_145064.3(STAC3):c.73C>T (p.Arg25Trp) rs747642245 0.00004
NM_152393.4(KLHL40):c.1210C>G (p.Leu404Val) rs760491341 0.00004
NM_152393.4(KLHL40):c.1504C>T (p.Leu502Phe) rs766195312 0.00004
NM_152393.4(KLHL40):c.1558G>A (p.Asp520Asn) rs755836871 0.00004
NM_152393.4(KLHL40):c.1832T>C (p.Val611Ala) rs749220097 0.00004
NM_152393.4(KLHL40):c.1835G>A (p.Arg612Gln) rs143516959 0.00004
NM_152393.4(KLHL40):c.511G>A (p.Gly171Arg) rs199513801 0.00004
NM_152393.4(KLHL40):c.590C>A (p.Ala197Glu) rs757677971 0.00004
NM_152393.4(KLHL40):c.670G>T (p.Val224Leu) rs757444389 0.00004
NM_198271.5(LMOD3):c.331C>T (p.Arg111Cys) rs373887230 0.00004
NM_198271.5(LMOD3):c.332G>A (p.Arg111His) rs370401036 0.00004
NM_198271.5(LMOD3):c.466G>C (p.Asp156His) rs371587555 0.00004
NM_198271.5(LMOD3):c.920G>A (p.Arg307His) rs756497709 0.00004
NM_198859.4(PRICKLE2):c.1040C>T (p.Thr347Met) rs375755312 0.00004
NM_198859.4(PRICKLE2):c.1679G>A (p.Gly560Asp) rs749378051 0.00004
NM_198859.4(PRICKLE2):c.1959G>T (p.Lys653Asn) rs1449765785 0.00004
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe) rs760799226 0.00004
NM_198859.4(PRICKLE2):c.2282T>A (p.Phe761Tyr) rs765569869 0.00004
NM_198859.4(PRICKLE2):c.271A>C (p.Asn91His) rs1256565263 0.00004
NM_198859.4(PRICKLE2):c.328C>T (p.Arg110Cys) rs750086425 0.00004
NM_198859.4(PRICKLE2):c.950A>G (p.Asn317Ser) rs201556180 0.00004
NM_198859.4(PRICKLE2):c.973G>A (p.Ala325Thr) rs760554761 0.00004
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) rs371437007 0.00004
NM_213720.3(CHCHD10):c.42-2A>G rs1354578196 0.00004
NM_000036.3(AMPD1):c.1097G>A (p.Arg366His) rs372451247 0.00003
NM_000036.3(AMPD1):c.116C>A (p.Ser39Tyr) rs758334449 0.00003
NM_000036.3(AMPD1):c.1273C>T (p.Arg425Cys) rs187527797 0.00003
NM_000036.3(AMPD1):c.1687G>C (p.Gly563Arg) rs370481249 0.00003
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) rs886045093 0.00003
NM_000036.3(AMPD1):c.2173A>G (p.Met725Val) rs778481612 0.00003
NM_000036.3(AMPD1):c.223C>T (p.Arg75Cys) rs12566550 0.00003
NM_000036.3(AMPD1):c.376T>C (p.Ser126Pro) rs1183959177 0.00003
NM_000036.3(AMPD1):c.500G>A (p.Arg167Gln) rs368656142 0.00003
NM_000036.3(AMPD1):c.665C>T (p.Ala222Val) rs369685849 0.00003
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00003
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser) rs958717402 0.00003
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) rs942477332 0.00003
NM_001101362.3(KBTBD13):c.1346G>T (p.Gly449Val) rs1216666979 0.00003
NM_001101362.3(KBTBD13):c.240G>T (p.Gln80His) rs1040368554 0.00003
NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn) rs1403660333 0.00003
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773 0.00003
NM_001164508.2(NEB):c.10127A>G (p.Tyr3376Cys) rs754298562 0.00003
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034 0.00003
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His) rs376558062 0.00003
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln) rs774454536 0.00003
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107 0.00003
NM_001164508.2(NEB):c.10872C>T (p.Asp3624=) rs781328083 0.00003
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val) rs370161504 0.00003
NM_001164508.2(NEB):c.11072A>G (p.Asn3691Ser) rs1184035076 0.00003
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.11570A>G (p.Gln3857Arg) rs760525587 0.00003
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717 0.00003
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr) rs750705899 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001164508.2(NEB):c.12747+4C>T rs1436792470 0.00003
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015 0.00003
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 0.00003
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177 0.00003
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705 0.00003
NM_001164508.2(NEB):c.19101+4C>T rs778716460 0.00003
NM_001164508.2(NEB):c.19625A>G (p.Asp6542Gly) rs753830499 0.00003
NM_001164508.2(NEB):c.23630C>T (p.Thr7877Ile) rs772064998 0.00003
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg) rs200761405 0.00003
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu) rs759261311 0.00003
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu) rs541150975 0.00003
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile) rs1482662133 0.00003
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592 0.00003
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val) rs749977606 0.00003
NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly) rs774603877 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu) rs781515499 0.00003
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser) rs1320792762 0.00003
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 0.00003
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895 0.00003
NM_001164508.2(NEB):c.6415C>G (p.His2139Asp) rs886044641 0.00003
NM_001164508.2(NEB):c.6495+6G>A rs1022052250 0.00003
NM_001164508.2(NEB):c.65A>G (p.Glu22Gly) rs1335474782 0.00003
NM_001164508.2(NEB):c.6631T>C (p.Phe2211Leu) rs369374856 0.00003
NM_001164508.2(NEB):c.7808C>T (p.Pro2603Leu) rs1259492469 0.00003
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys) rs750799792 0.00003
NM_001164508.2(NEB):c.9151G>A (p.Ala3051Thr) rs751613683 0.00003
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp) rs375216659 0.00003
NM_001164508.2(NEB):c.9366C>A (p.Asp3122Glu) rs1271867113 0.00003
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986 0.00003
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365 0.00003
NM_001256545.2(MEGF10):c.1100G>A (p.Arg367Gln) rs371522377 0.00003
NM_001256545.2(MEGF10):c.1868G>A (p.Arg623His) rs766501362 0.00003
NM_001256545.2(MEGF10):c.1894G>A (p.Val632Ile) rs561610841 0.00003
NM_001256545.2(MEGF10):c.1906G>A (p.Gly636Arg) rs201512679 0.00003
NM_001256545.2(MEGF10):c.2050A>T (p.Ile684Phe) rs772306149 0.00003
NM_001256545.2(MEGF10):c.2082G>T (p.Trp694Cys) rs896056668 0.00003
NM_001256545.2(MEGF10):c.2150A>G (p.Asn717Ser) rs116135607 0.00003
NM_001256545.2(MEGF10):c.2182G>A (p.Asp728Asn) rs781645558 0.00003
NM_001256545.2(MEGF10):c.2341A>G (p.Met781Val) rs1293120056 0.00003
NM_001256545.2(MEGF10):c.2579C>T (p.Ala860Val) rs777294451 0.00003
NM_001256545.2(MEGF10):c.2704G>A (p.Val902Ile) rs138034219 0.00003
NM_001256545.2(MEGF10):c.2864A>C (p.Asn955Thr) rs1353393054 0.00003
NM_001256545.2(MEGF10):c.3191T>A (p.Ile1064Asn) rs746195971 0.00003
NM_001256545.2(MEGF10):c.3196A>T (p.Asn1066Tyr) rs200848884 0.00003
NM_001256545.2(MEGF10):c.482A>G (p.Asn161Ser) rs919641160 0.00003
NM_001256545.2(MEGF10):c.512C>T (p.Ala171Val) rs201824269 0.00003
NM_001256545.2(MEGF10):c.610G>A (p.Asp204Asn) rs764004112 0.00003
NM_001256545.2(MEGF10):c.775T>A (p.Trp259Arg) rs559323248 0.00003
NM_001267550.2(TTN):c.100390G>A (p.Glu33464Lys) rs374920916 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp) rs373754986 0.00003
NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn) rs776913696 0.00003
NM_001267550.2(TTN):c.101108G>A (p.Arg33703Gln) rs576025689 0.00003
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu) rs370647845 0.00003
NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr) rs373173599 0.00003
NM_001267550.2(TTN):c.102257G>C (p.Arg34086Thr) rs569650065 0.00003
NM_001267550.2(TTN):c.102752T>A (p.Met34251Lys) rs750864230 0.00003
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe) rs773984912 0.00003
NM_001267550.2(TTN):c.102823G>A (p.Val34275Ile) rs879063086 0.00003
NM_001267550.2(TTN):c.103364G>A (p.Arg34455His) rs756023873 0.00003
NM_001267550.2(TTN):c.103391A>C (p.Lys34464Thr) rs1559023019 0.00003
NM_001267550.2(TTN):c.103486A>G (p.Thr34496Ala) rs183912990 0.00003
NM_001267550.2(TTN):c.103535C>T (p.Pro34512Leu) rs762629564 0.00003
NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg) rs544590023 0.00003
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His) rs550047610 0.00003
NM_001267550.2(TTN):c.103847G>C (p.Arg34616Thr) rs573782418 0.00003
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys) rs768575577 0.00003
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln) rs397517788 0.00003
NM_001267550.2(TTN):c.104027C>G (p.Thr34676Arg) rs761644963 0.00003
NM_001267550.2(TTN):c.104246G>A (p.Arg34749Gln) rs771716923 0.00003
NM_001267550.2(TTN):c.104359A>G (p.Lys34787Glu) rs769788281 0.00003
NM_001267550.2(TTN):c.104734G>A (p.Glu34912Lys) rs375542215 0.00003
NM_001267550.2(TTN):c.105301T>C (p.Ser35101Pro) rs759062212 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys) rs778207634 0.00003
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu) rs560557634 0.00003
NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro) rs370094513 0.00003
NM_001267550.2(TTN):c.106094G>A (p.Gly35365Asp) rs778524334 0.00003
NM_001267550.2(TTN):c.106439A>G (p.His35480Arg) rs766337455 0.00003
NM_001267550.2(TTN):c.106489T>G (p.Ser35497Ala) rs369870182 0.00003
NM_001267550.2(TTN):c.11359G>A (p.Ala3787Thr) rs779416521 0.00003
NM_001267550.2(TTN):c.1245+3A>G rs757221300 0.00003
NM_001267550.2(TTN):c.12813C>A (p.His4271Gln) rs373302409 0.00003
NM_001267550.2(TTN):c.13015G>A (p.Val4339Ile) rs756186781 0.00003
NM_001267550.2(TTN):c.13048G>A (p.Val4350Met) rs781206839 0.00003
NM_001267550.2(TTN):c.1330A>G (p.Ser444Gly) rs767156649 0.00003
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu) rs757119133 0.00003
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly) rs756793304 0.00003
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936 0.00003
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr) rs748155563 0.00003
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly) rs760722200 0.00003
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser) rs774425875 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001267550.2(TTN):c.187G>A (p.Ala63Thr) rs764892312 0.00003
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly) rs367868361 0.00003
NM_001267550.2(TTN):c.19715-1G>A rs767658044 0.00003
NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val) rs369108292 0.00003
NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala) rs370671112 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.20096T>A (p.Val6699Asp) rs907862282 0.00003
NM_001267550.2(TTN):c.20156T>C (p.Ile6719Thr) rs770377168 0.00003
NM_001267550.2(TTN):c.20474C>T (p.Thr6825Ile) rs763006525 0.00003
NM_001267550.2(TTN):c.2083G>A (p.Val695Ile) rs747479318 0.00003
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln) rs754476903 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.22592G>A (p.Ser7531Asn) rs267599060 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.24482G>A (p.Cys8161Tyr) rs372143487 0.00003
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala) rs778611558 0.00003
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp) rs898098652 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.26C>T (p.Thr9Met) rs146123323 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_001267550.2(TTN):c.27928G>A (p.Val9310Ile) rs200207722 0.00003
NM_001267550.2(TTN):c.27988A>G (p.Ile9330Val) rs768696299 0.00003
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met) rs1060500516 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr) rs769915175 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val) rs766003250 0.00003
NM_001267550.2(TTN):c.3214G>A (p.Glu1072Lys) rs1263370770 0.00003
NM_001267550.2(TTN):c.3235C>A (p.Pro1079Thr) rs774643116 0.00003
NM_001267550.2(TTN):c.32722+3A>G rs1182220171 0.00003
NM_001267550.2(TTN):c.32888-3C>A rs397517544 0.00003
NM_001267550.2(TTN):c.32C>T (p.Pro11Leu) rs768624416 0.00003
NM_001267550.2(TTN):c.33664+6C>G rs1060500524 0.00003
NM_001267550.2(TTN):c.35384A>C (p.Lys11795Thr) rs890825956 0.00003
NM_001267550.2(TTN):c.35717C>G (p.Pro11906Arg) rs781317174 0.00003
NM_001267550.2(TTN):c.36281-9T>C rs760175676 0.00003
NM_001267550.2(TTN):c.36427C>T (p.Pro12143Ser) rs779794774 0.00003
NM_001267550.2(TTN):c.36617-5T>A rs771059357 0.00003
NM_001267550.2(TTN):c.36680C>T (p.Pro12227Leu) rs767455362 0.00003
NM_001267550.2(TTN):c.38372G>C (p.Arg12791Pro) rs1237577240 0.00003
NM_001267550.2(TTN):c.38681A>G (p.Lys12894Arg) rs574694398 0.00003
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu) rs763845436 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.39928A>C (p.Lys13310Gln) rs1317959875 0.00003
NM_001267550.2(TTN):c.40511T>G (p.Leu13504Arg) rs776115575 0.00003
NM_001267550.2(TTN):c.41018C>T (p.Pro13673Leu) rs765821223 0.00003
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=) rs749356221 0.00003
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_001267550.2(TTN):c.41818G>C (p.Glu13940Gln) rs1172846357 0.00003
NM_001267550.2(TTN):c.43460G>A (p.Ser14487Asn) rs770233190 0.00003
NM_001267550.2(TTN):c.4373T>G (p.Val1458Gly) rs1164246536 0.00003
NM_001267550.2(TTN):c.44117A>G (p.Asn14706Ser) rs878854309 0.00003
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys) rs397517577 0.00003
NM_001267550.2(TTN):c.44525C>T (p.Thr14842Ile) rs370782364 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr) rs764388462 0.00003
NM_001267550.2(TTN):c.47687T>C (p.Ile15896Thr) rs1411457226 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.48023G>A (p.Arg16008Gln) rs771224957 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala) rs745999025 0.00003
NM_001267550.2(TTN):c.48545A>C (p.Asp16182Ala) rs762913484 0.00003
NM_001267550.2(TTN):c.485T>A (p.Leu162Gln) rs145438758 0.00003
NM_001267550.2(TTN):c.49129G>A (p.Asp16377Asn) rs757542062 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys) rs774137928 0.00003
NM_001267550.2(TTN):c.51079A>T (p.Ile17027Phe) rs770809063 0.00003
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala) rs565423253 0.00003
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr) rs756689649 0.00003
NM_001267550.2(TTN):c.53002+4C>G rs947716496 0.00003
NM_001267550.2(TTN):c.53791C>G (p.Gln17931Glu) rs759208053 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.5581C>T (p.Arg1861Cys) rs532733393 0.00003
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser) rs368350844 0.00003
NM_001267550.2(TTN):c.56096G>A (p.Gly18699Glu) rs1060500533 0.00003
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg) rs201091423 0.00003
NM_001267550.2(TTN):c.56573G>A (p.Arg18858Gln) rs755848019 0.00003
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr) rs373351577 0.00003
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg) rs750947988 0.00003
NM_001267550.2(TTN):c.5761A>G (p.Ile1921Val) rs879100565 0.00003
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=) rs376930907 0.00003
NM_001267550.2(TTN):c.583+4C>T rs764670848 0.00003
NM_001267550.2(TTN):c.58609A>T (p.Thr19537Ser) rs750320421 0.00003
NM_001267550.2(TTN):c.5912C>G (p.Thr1971Ser) rs778898929 0.00003
NM_001267550.2(TTN):c.59243G>A (p.Arg19748Gln) rs142791877 0.00003
NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val) rs1060500484 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.60062C>T (p.Thr20021Ile) rs760706351 0.00003
NM_001267550.2(TTN):c.60298G>A (p.Ala20100Thr) rs748929812 0.00003
NM_001267550.2(TTN):c.60407T>A (p.Leu20136His) rs1060500492 0.00003
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys) rs768427369 0.00003
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His) rs727503587 0.00003
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His) rs758019778 0.00003
NM_001267550.2(TTN):c.62779C>T (p.Arg20927Cys) rs547604540 0.00003
NM_001267550.2(TTN):c.63110G>A (p.Arg21037His) rs775651612 0.00003
NM_001267550.2(TTN):c.63665T>C (p.Val21222Ala) rs183595734 0.00003
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln) rs373282633 0.00003
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu) rs368450785 0.00003
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.6587G>A (p.Cys2196Tyr) rs878854326 0.00003
NM_001267550.2(TTN):c.66099A>C (p.Glu22033Asp) rs768277403 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.66863G>A (p.Arg22288His) rs537871205 0.00003
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.68449C>A (p.Arg22817=) rs371678190 0.00003
NM_001267550.2(TTN):c.69731C>T (p.Pro23244Leu) rs879056292 0.00003
NM_001267550.2(TTN):c.71719G>A (p.Ala23907Thr) rs1309139547 0.00003
NM_001267550.2(TTN):c.71879T>C (p.Ile23960Thr) rs568223521 0.00003
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val) rs876658080 0.00003
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164 0.00003
NM_001267550.2(TTN):c.73568C>A (p.Pro24523Gln) rs753557799 0.00003
NM_001267550.2(TTN):c.73975G>A (p.Gly24659Ser) rs776423108 0.00003
NM_001267550.2(TTN):c.74185G>A (p.Ala24729Thr) rs372007344 0.00003
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg) rs747593205 0.00003
NM_001267550.2(TTN):c.76069C>T (p.Arg25357Cys) rs145437410 0.00003
NM_001267550.2(TTN):c.77035A>C (p.Asn25679His) rs770512378 0.00003
NM_001267550.2(TTN):c.77540C>T (p.Thr25847Ile) rs917984063 0.00003
NM_001267550.2(TTN):c.77652A>T (p.Glu25884Asp) rs748940985 0.00003
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg) rs370963021 0.00003
NM_001267550.2(TTN):c.78413C>A (p.Ala26138Asp) rs373587432 0.00003
NM_001267550.2(TTN):c.78589C>A (p.Pro26197Thr) rs747052899 0.00003
NM_001267550.2(TTN):c.8018A>G (p.Lys2673Arg) rs1060500389 0.00003
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val) rs749194310 0.00003
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val) rs371498697 0.00003
NM_001267550.2(TTN):c.82424C>A (p.Thr27475Lys) rs377169807 0.00003
NM_001267550.2(TTN):c.83410G>A (p.Glu27804Lys) rs759095633 0.00003
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu) rs761633407 0.00003
NM_001267550.2(TTN):c.84353G>T (p.Arg28118Leu) rs72648220 0.00003
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp) rs749633038 0.00003
NM_001267550.2(TTN):c.85301A>C (p.Asn28434Thr) rs758519100 0.00003
NM_001267550.2(TTN):c.85428A>G (p.Gln28476=) rs777939514 0.00003
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn) rs56330345 0.00003
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr) rs374022393 0.00003
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu) rs754207859 0.00003
NM_001267550.2(TTN):c.86560G>A (p.Val28854Met) rs769060885 0.00003
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) rs371539720 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_001267550.2(TTN):c.87632G>A (p.Arg29211His) rs370948914 0.00003
NM_001267550.2(TTN):c.89003A>T (p.Tyr29668Phe) rs760499831 0.00003
NM_001267550.2(TTN):c.89170G>A (p.Glu29724Lys) rs370918981 0.00003
NM_001267550.2(TTN):c.89727A>G (p.Lys29909=) rs1489769852 0.00003
NM_001267550.2(TTN):c.9067C>T (p.His3023Tyr) rs763992518 0.00003
NM_001267550.2(TTN):c.91342C>T (p.Arg30448Cys) rs756030714 0.00003
NM_001267550.2(TTN):c.91361T>C (p.Ile30454Thr) rs878985220 0.00003
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu) rs774107448 0.00003
NM_001267550.2(TTN):c.9163+5G>C rs775448783 0.00003
NM_001267550.2(TTN):c.9164-2A>T rs777369921 0.00003
NM_001267550.2(TTN):c.9166C>T (p.Arg3056Cys) rs377207838 0.00003
NM_001267550.2(TTN):c.92765C>T (p.Ala30922Val) rs756786292 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His) rs727504923 0.00003
NM_001267550.2(TTN):c.93242C>T (p.Ala31081Val) rs1032232850 0.00003
NM_001267550.2(TTN):c.93392T>G (p.Val31131Gly) rs1176407616 0.00003
NM_001267550.2(TTN):c.9356C>T (p.Thr3119Ile) rs1444407818 0.00003
NM_001267550.2(TTN):c.93581A>G (p.Tyr31194Cys) rs543223589 0.00003
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175 0.00003
NM_001267550.2(TTN):c.94187A>C (p.Glu31396Ala) rs768420352 0.00003
NM_001267550.2(TTN):c.9442C>T (p.Arg3148Cys) rs372196051 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.9520G>A (p.Asp3174Asn) rs984157404 0.00003
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr) rs1460359915 0.00003
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg) rs747323263 0.00003
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu) rs397517792 0.00003
NM_001267550.2(TTN):c.97324G>A (p.Ala32442Thr) rs778341120 0.00003
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu) rs201364164 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg) rs727505311 0.00003
NM_001267550.2(TTN):c.98098+3G>A rs556524594 0.00003
NM_001267550.2(TTN):c.98119G>C (p.Asp32707His) rs1307768306 0.00003
NM_001267550.2(TTN):c.98278C>T (p.Leu32760Phe) rs1060500523 0.00003
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr) rs199647622 0.00003
NM_001267550.2(TTN):c.98552G>A (p.Arg32851Gln) rs775915301 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_001368067.1(LDB3):c.331A>G (p.Asn111Asp) rs376900496 0.00003
NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser) rs771037817 0.00003
NM_001378030.1(CCDC78):c.1230G>A (p.Leu410=) rs768794447 0.00003
NM_001378030.1(CCDC78):c.1248G>A (p.Met416Ile) rs1045075829 0.00003
NM_001378030.1(CCDC78):c.165G>T (p.Lys55Asn) rs371931071 0.00003
NM_001378030.1(CCDC78):c.341C>T (p.Pro114Leu) rs749051279 0.00003
NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser) rs756781117 0.00003
NM_001378030.1(CCDC78):c.367C>T (p.Arg123Trp) rs144406163 0.00003
NM_001378030.1(CCDC78):c.502G>A (p.Glu168Lys) rs777794522 0.00003
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter) rs887921636 0.00003
NM_001378030.1(CCDC78):c.880C>T (p.Arg294Trp) rs772096201 0.00003
NM_001378030.1(CCDC78):c.884C>A (p.Ala295Asp) rs1418782154 0.00003
NM_001378030.1(CCDC78):c.890G>A (p.Arg297His) rs768251031 0.00003
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr) rs1444907403 0.00003
NM_001382567.1(STIM1):c.1856A>G (p.His619Arg) rs1176059435 0.00003
NM_001382567.1(STIM1):c.2104C>T (p.Arg702Trp) rs755346239 0.00003
NM_001382567.1(STIM1):c.589A>G (p.Thr197Ala) rs367888213 0.00003
NM_001458.5(FLNC):c.1027A>G (p.Lys343Glu) rs745495679 0.00003
NM_001458.5(FLNC):c.1211-5G>A rs769599454 0.00003
NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln) rs955475416 0.00003
NM_001458.5(FLNC):c.1649C>T (p.Thr550Met) rs779802575 0.00003
NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp) rs896068048 0.00003
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile) rs746478952 0.00003
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala) rs781169622 0.00003
NM_001458.5(FLNC):c.2811+6C>T rs750718546 0.00003
NM_001458.5(FLNC):c.2845G>C (p.Asp949His) rs761905908 0.00003
NM_001458.5(FLNC):c.3085A>G (p.Met1029Val) rs369078760 0.00003
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala) rs748785077 0.00003
NM_001458.5(FLNC):c.3706C>T (p.Pro1236Ser) rs747678267 0.00003
NM_001458.5(FLNC):c.3871C>T (p.Arg1291Cys) rs753591663 0.00003
NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr) rs556477946 0.00003
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His) rs765435961 0.00003
NM_001458.5(FLNC):c.550G>A (p.Asp184Asn) rs1215344798 0.00003
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg) rs368977589 0.00003
NM_001458.5(FLNC):c.6711C>G (p.Ile2237Met) rs781708543 0.00003
NM_001458.5(FLNC):c.7564G>A (p.Val2522Met) rs780917403 0.00003
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met) rs1175931652 0.00003
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met) rs372172779 0.00003
NM_001458.5(FLNC):c.8059A>G (p.Met2687Val) rs369110441 0.00003
NM_001458.5(FLNC):c.898G>A (p.Val300Met) rs765885585 0.00003
NM_001458.5(FLNC):c.919G>A (p.Val307Met) rs763968152 0.00003
NM_001843.4(CNTN1):c.1526T>C (p.Leu509Ser) rs973419081 0.00003
NM_001843.4(CNTN1):c.2002G>A (p.Ala668Thr) rs549628424 0.00003
NM_001843.4(CNTN1):c.2284C>T (p.Pro762Ser) rs566695601 0.00003
NM_001843.4(CNTN1):c.2788G>T (p.Ala930Ser) rs756665946 0.00003
NM_001843.4(CNTN1):c.652A>G (p.Ile218Val) rs752293954 0.00003
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser) rs201153092 0.00003
NM_001848.3(COL6A1):c.1957-10G>A rs761863286 0.00003
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe) rs752045107 0.00003
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val) rs565089447 0.00003
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln) rs747093518 0.00003
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser) rs375694341 0.00003
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=) rs150999832 0.00003
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile) rs7283272 0.00003
NM_001849.4(COL6A2):c.1969+4A>C rs775997945 0.00003
NM_001849.4(COL6A2):c.1969+6C>T rs374669895 0.00003
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala) rs774611719 0.00003
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys) rs748592288 0.00003
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495 0.00003
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp) rs376880198 0.00003
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu) rs772894756 0.00003
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr) rs376173871 0.00003
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met) rs367980010 0.00003
NM_001849.4(COL6A2):c.284G>A (p.Arg95His) rs886042690 0.00003
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg) rs113509166 0.00003
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg) rs886044068 0.00003
NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys) rs770150581 0.00003
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu) rs745566911 0.00003
NM_001927.4(DES):c.1064G>A (p.Arg355Gln) rs61368398 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001927.4(DES):c.233G>T (p.Arg78Leu) rs573916832 0.00003
NM_001927.4(DES):c.367A>G (p.Ile123Val) rs376048590 0.00003
NM_001927.4(DES):c.391C>A (p.Gln131Lys) rs771499260 0.00003
NM_001927.4(DES):c.461T>A (p.Leu154His) rs755106109 0.00003
NM_001927.4(DES):c.637G>A (p.Ala213Thr) rs918962036 0.00003
NM_003283.6(TNNT1):c.387G>A (p.Ala129=) rs1415980730 0.00003
NM_003283.6(TNNT1):c.508C>G (p.Gln170Glu) rs62126315 0.00003
NM_003283.6(TNNT1):c.815G>A (p.Arg272His) rs533424787 0.00003
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr) rs754893758 0.00003
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe) rs369321221 0.00003
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg) rs1301221379 0.00003
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr) rs150326789 0.00003
NM_004168.4(SDHA):c.1573G>A (p.Val525Met) rs979815942 0.00003
NM_004168.4(SDHA):c.1666A>G (p.Met556Val) rs980397872 0.00003
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala) rs774609159 0.00003
NM_004168.4(SDHA):c.191C>T (p.Ala64Val) rs760510019 0.00003
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met) rs762128553 0.00003
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn) rs376986935 0.00003
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro) rs758054627 0.00003
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn) rs1324014370 0.00003
NM_004168.4(SDHA):c.424A>G (p.Met142Val) rs776848209 0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala) rs373340696 0.00003
NM_004168.4(SDHA):c.613T>C (p.Tyr205His) rs61754481 0.00003
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr) rs774160524 0.00003
NM_004168.4(SDHA):c.800C>T (p.Thr267Met) rs777167108 0.00003
NM_004281.4(BAG3):c.1028G>C (p.Arg343Pro) rs774085746 0.00003
NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser) rs1031608025 0.00003
NM_004281.4(BAG3):c.485C>T (p.Pro162Leu) rs373446989 0.00003
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln) rs140904592 0.00003
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp) rs548032105 0.00003
NM_004281.4(BAG3):c.854C>T (p.Thr285Met) rs375650805 0.00003
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser) rs376832654 0.00003
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met) rs755178814 0.00003
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser) rs375285237 0.00003
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu) rs774161895 0.00003
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu) rs371991808 0.00003
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser) rs753056634 0.00003
NM_004369.4(COL6A3):c.3679+4C>T rs774411894 0.00003
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser) rs747965230 0.00003
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln) rs1311406995 0.00003
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His) rs774808500 0.00003
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe) rs754788931 0.00003
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val) rs201539582 0.00003
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu) rs113331139 0.00003
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 0.00003
NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg) rs780964113 0.00003
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val) rs372278071 0.00003
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala) rs775809424 0.00003
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val) rs1202850966 0.00003
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu) rs199503279 0.00003
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538 0.00003
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 0.00003
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583 0.00003
NM_004370.6(COL12A1):c.4000+4C>G rs375772555 0.00003
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp) rs548889128 0.00003
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927 0.00003
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=) rs775579405 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=) rs900917198 0.00003
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His) rs150768955 0.00003
NM_006063.3(KLHL41):c.1448T>C (p.Ile483Thr) rs978825115 0.00003
NM_006063.3(KLHL41):c.1454G>A (p.Arg485His) rs760007708 0.00003
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) rs778003504 0.00003
NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu) rs772160259 0.00003
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) rs1489391510 0.00003
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr) rs372167756 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006790.3(MYOT):c.182A>C (p.His61Pro) rs372276337 0.00003
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr) rs1163332539 0.00003
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) rs201113539 0.00003
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr) rs924634578 0.00003
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser) rs397517214 0.00003
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser) rs201786090 0.00003
NM_007078.3(LDB3):c.1640G>A (p.Arg547Gln) rs201968826 0.00003
NM_007078.3(LDB3):c.1789T>A (p.Tyr597Asn) rs727503131 0.00003
NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys) rs754552434 0.00003
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) rs200239096 0.00003
NM_007078.3(LDB3):c.428G>A (p.Ser143Asn) rs201773873 0.00003
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr) rs759790522 0.00003
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr) rs777489502 0.00003
NM_017534.6(MYH2):c.1266+5G>A rs758217131 0.00003
NM_017534.6(MYH2):c.1333C>T (p.Arg445Cys) rs752702044 0.00003
NM_017534.6(MYH2):c.2225T>C (p.Ile742Thr) rs773415186 0.00003
NM_017534.6(MYH2):c.2303A>C (p.Lys768Thr) rs1358118988 0.00003
NM_017534.6(MYH2):c.2378G>A (p.Arg793Gln) rs578188627 0.00003
NM_017534.6(MYH2):c.265G>A (p.Glu89Lys) rs759350345 0.00003
NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys) rs781514305 0.00003
NM_017534.6(MYH2):c.3152G>A (p.Arg1051His) rs1027280616 0.00003
NM_017534.6(MYH2):c.3440G>A (p.Arg1147Gln) rs760262646 0.00003
NM_017534.6(MYH2):c.3542G>A (p.Arg1181His) rs773196254 0.00003
NM_017534.6(MYH2):c.431G>A (p.Arg144Gln) rs773318939 0.00003
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro) rs765135888 0.00003
NM_017534.6(MYH2):c.4406C>T (p.Thr1469Met) rs760961929 0.00003
NM_017534.6(MYH2):c.4573G>A (p.Gly1525Arg) rs910402127 0.00003
NM_017534.6(MYH2):c.4918C>T (p.Arg1640Cys) rs375371672 0.00003
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His) rs777282924 0.00003
NM_017534.6(MYH2):c.5476C>T (p.Arg1826Trp) rs755265718 0.00003
NM_017534.6(MYH2):c.5641G>A (p.Val1881Met) rs775106499 0.00003
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe) rs201044964 0.00003
NM_020451.3(SELENON):c.1158C>G (p.Ile386Met) rs372243527 0.00003
NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys) rs769840172 0.00003
NM_020451.3(SELENON):c.1339G>A (p.Val447Met) rs746942226 0.00003
NM_020451.3(SELENON):c.146G>A (p.Cys49Tyr) rs1023254639 0.00003
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val) rs202167521 0.00003
NM_020451.3(SELENON):c.1592A>G (p.Asn531Ser) rs546041571 0.00003
NM_020451.3(SELENON):c.545G>A (p.Arg182His) rs200224030 0.00003
NM_032790.4(ORAI1):c.119C>T (p.Pro40Leu) rs1555322519 0.00003
NM_032790.4(ORAI1):c.140C>T (p.Pro47Leu) rs781855511 0.00003
NM_032790.4(ORAI1):c.556C>T (p.Leu186Phe) rs782383265 0.00003
NM_032790.4(ORAI1):c.830C>T (p.Ala277Val) rs543436848 0.00003
NM_032790.4(ORAI1):c.874C>A (p.His292Asn) rs1189464768 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly) rs758494519 0.00003
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys) rs1342661066 0.00003
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) rs587783342 0.00003
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser) rs769724273 0.00003
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr) rs779607755 0.00003
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg) rs771506242 0.00003
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser) rs199551366 0.00003
NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu) rs762866281 0.00003
NM_145064.3(STAC3):c.895A>G (p.Asn299Asp) rs754269738 0.00003
NM_152393.4(KLHL40):c.125G>A (p.Arg42His) rs907216548 0.00003
NM_152393.4(KLHL40):c.1279C>T (p.Arg427Cys) rs577804609 0.00003
NM_152393.4(KLHL40):c.1292C>T (p.Ser431Leu) rs545767433 0.00003
NM_152393.4(KLHL40):c.1396G>T (p.Val466Leu) rs773720799 0.00003
NM_152393.4(KLHL40):c.1795G>C (p.Glu599Gln) rs764539039 0.00003
NM_152393.4(KLHL40):c.468C>G (p.Ile156Met) rs1378856635 0.00003
NM_152393.4(KLHL40):c.769G>A (p.Val257Met) rs759025628 0.00003
NM_198271.5(LMOD3):c.1130T>C (p.Phe377Ser) rs373483102 0.00003
NM_198271.5(LMOD3):c.1505C>G (p.Ala502Gly) rs775938178 0.00003
NM_198271.5(LMOD3):c.1642G>A (p.Ala548Thr) rs376653017 0.00003
NM_198271.5(LMOD3):c.292G>A (p.Glu98Lys) rs1467437318 0.00003
NM_198271.5(LMOD3):c.406G>A (p.Gly136Ser) rs755727319 0.00003
NM_198271.5(LMOD3):c.838A>G (p.Lys280Glu) rs934465837 0.00003
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp) rs772691573 0.00003
NM_198859.4(PRICKLE2):c.1597A>G (p.Met533Val) rs758585243 0.00003
NM_198859.4(PRICKLE2):c.1688G>A (p.Arg563His) rs375448087 0.00003
NM_198859.4(PRICKLE2):c.1851G>A (p.Met617Ile) rs771413626 0.00003
NM_198859.4(PRICKLE2):c.2187G>C (p.Gln729His) rs142077804 0.00003
NM_198859.4(PRICKLE2):c.2207T>G (p.Met736Arg) rs758228643 0.00003
NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys) rs188632189 0.00003
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) rs1438034155 0.00003
NM_000036.3(AMPD1):c.1432A>G (p.Met478Val) rs528215739 0.00002
NM_000036.3(AMPD1):c.1517T>A (p.Ile506Asn) rs746816406 0.00002
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) rs765248906 0.00002
NM_000036.3(AMPD1):c.439C>T (p.Arg147Cys) rs147035391 0.00002
NM_000036.3(AMPD1):c.538T>C (p.Phe180Leu) rs777043982 0.00002
NM_000036.3(AMPD1):c.835G>A (p.Glu279Lys) rs777934972 0.00002
NM_000036.3(AMPD1):c.844G>A (p.Glu282Lys) rs748720444 0.00002
NM_000036.3(AMPD1):c.881T>G (p.Phe294Cys) rs763848203 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) rs782240044 0.00002
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) rs782401618 0.00002
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851 0.00002
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396 0.00002
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.1507G>A (p.Val503Met) rs138386385 0.00002
NM_000182.5(HADHA):c.1596G>C (p.Gln532His) rs1004898768 0.00002
NM_000182.5(HADHA):c.1889G>A (p.Arg630His) rs150850348 0.00002
NM_000182.5(HADHA):c.1925G>T (p.Gly642Val) rs766188621 0.00002
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln) rs781303622 0.00002
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg) rs769625802 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.677-3T>C rs376306806 0.00002
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu) rs143919136 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000183.3(HADHB):c.134C>T (p.Thr45Met) rs754537494 0.00002
NM_000183.3(HADHB):c.353A>T (p.Glu118Val) rs761005966 0.00002
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro) rs773127211 0.00002
NM_000183.3(HADHB):c.574A>G (p.Met192Val) rs772405727 0.00002
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516 0.00002
NM_000183.3(HADHB):c.713G>A (p.Arg238Gln) rs369313023 0.00002
NM_000183.3(HADHB):c.844C>T (p.Arg282Cys) rs374979465 0.00002
NM_000183.3(HADHB):c.965C>T (p.Ala322Val) rs758786432 0.00002
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.206G>A (p.Arg69His) rs782277980 0.00002
NM_000252.3(MTM1):c.233A>T (p.Asp78Val) rs782215492 0.00002
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr) rs199821243 0.00002
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser) rs766934634 0.00002
NM_001100.4(ACTA1):c.808+6C>A rs200342114 0.00002
NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp) rs544519051 0.00002
NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp) rs1228459718 0.00002
NM_001101362.3(KBTBD13):c.1337G>C (p.Gly446Ala) rs976528181 0.00002
NM_001101362.3(KBTBD13):c.412G>A (p.Ala138Thr) rs1338140080 0.00002
NM_001101362.3(KBTBD13):c.434C>G (p.Ala145Gly) rs1205418680 0.00002
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu) rs760224608 0.00002
NM_001101362.3(KBTBD13):c.79G>A (p.Glu27Lys) rs760809346 0.00002
NM_001101362.3(KBTBD13):c.874C>T (p.Pro292Ser) rs765686080 0.00002
NM_001101362.3(KBTBD13):c.985G>C (p.Ala329Pro) rs1158844505 0.00002
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met) rs745706462 0.00002
NM_001164508.2(NEB):c.10282T>C (p.Phe3428Leu) rs766193154 0.00002
NM_001164508.2(NEB):c.10452+5G>A rs370685957 0.00002
NM_001164508.2(NEB):c.11091A>C (p.Glu3697Asp) rs1470685965 0.00002
NM_001164508.2(NEB):c.11225A>G (p.Tyr3742Cys) rs752598891 0.00002
NM_001164508.2(NEB):c.11413A>G (p.Lys3805Glu) rs972557338 0.00002
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490 0.00002
NM_001164508.2(NEB):c.1213C>A (p.Pro405Thr) rs1008850251 0.00002
NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg) rs1284970605 0.00002
NM_001164508.2(NEB):c.12280G>C (p.Asp4094His) rs748607410 0.00002
NM_001164508.2(NEB):c.12330+4C>T rs772068098 0.00002
NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys) rs1270122330 0.00002
NM_001164508.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722 0.00002
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu) rs759653954 0.00002
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu) rs759755890 0.00002
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg) rs369065324 0.00002
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile) rs752014573 0.00002
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn) rs765593110 0.00002
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn) rs375143141 0.00002
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597 0.00002
NM_001164508.2(NEB):c.18052C>T (p.Leu6018Phe) rs1223624917 0.00002
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293 0.00002
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225 0.00002
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys) rs1177490619 0.00002
NM_001164508.2(NEB):c.1954A>G (p.Thr652Ala) rs752227497 0.00002
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr) rs1559832482 0.00002
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln) rs375307136 0.00002
NM_001164508.2(NEB):c.19978A>G (p.Thr6660Ala) rs1027633106 0.00002
NM_001164508.2(NEB):c.20262+3G>A rs763862179 0.00002
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His) rs770527289 0.00002
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00002
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn) rs755199802 0.00002
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu) rs374029795 0.00002
NM_001164508.2(NEB):c.23928+4T>C rs768465696 0.00002
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys) rs969631939 0.00002
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00002
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys) rs748561855 0.00002
NM_001164508.2(NEB):c.2521G>A (p.Asp841Asn) rs377599060 0.00002
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro) rs370819880 0.00002
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys) rs371027084 0.00002
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr) rs944276562 0.00002
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys) rs779213215 0.00002
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met) rs975412307 0.00002
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile) rs552140238 0.00002
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His) rs767185795 0.00002
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val) rs200481156 0.00002
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp) rs1204576083 0.00002
NM_001164508.2(NEB):c.8594T>C (p.Val2865Ala) rs754454398 0.00002
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955 0.00002
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr) rs186634689 0.00002
NM_001164508.2(NEB):c.9939G>C (p.Gln3313His) rs767908602 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_001256545.2(MEGF10):c.1058G>A (p.Arg353His) rs146940427 0.00002
NM_001256545.2(MEGF10):c.1380T>G (p.Asn460Lys) rs748227745 0.00002
NM_001256545.2(MEGF10):c.1426+5G>T rs148197499 0.00002
NM_001256545.2(MEGF10):c.1544C>T (p.Thr515Met) rs777758032 0.00002
NM_001256545.2(MEGF10):c.1597A>G (p.Thr533Ala) rs954749214 0.00002
NM_001256545.2(MEGF10):c.1661C>T (p.Thr554Met) rs553024715 0.00002
NM_001256545.2(MEGF10):c.1880C>T (p.Thr627Ile) rs778901566 0.00002
NM_001256545.2(MEGF10):c.218+5T>C rs373947797 0.00002
NM_001256545.2(MEGF10):c.2218C>T (p.Leu740Phe) rs772955622 0.00002
NM_001256545.2(MEGF10):c.2500A>T (p.Ile834Phe) rs1300616206 0.00002
NM_001256545.2(MEGF10):c.2587A>G (p.Ile863Val) rs148862988 0.00002
NM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met) rs775983100 0.00002
NM_001256545.2(MEGF10):c.3179C>T (p.Pro1060Leu) rs747619139 0.00002
NM_001256545.2(MEGF10):c.413-7A>G rs367785030 0.00002
NM_001256545.2(MEGF10):c.418G>A (p.Asp140Asn) rs750650046 0.00002
NM_001256545.2(MEGF10):c.524G>A (p.Gly175Asp) rs764487174 0.00002
NM_001256545.2(MEGF10):c.571T>C (p.Cys191Arg) rs755877624 0.00002
NM_001256545.2(MEGF10):c.745G>A (p.Val249Ile) rs370717384 0.00002
NM_001256545.2(MEGF10):c.814C>A (p.Arg272Ser) rs748380473 0.00002
NM_001256545.2(MEGF10):c.917+6G>T rs746095070 0.00002
NM_001256545.2(MEGF10):c.952G>A (p.Val318Ile) rs959864264 0.00002
NM_001267550.2(TTN):c.100018C>A (p.Gln33340Lys) rs558954116 0.00002
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser) rs55880786 0.00002
NM_001267550.2(TTN):c.100449A>C (p.Glu33483Asp) rs762690616 0.00002
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala) rs878854282 0.00002
NM_001267550.2(TTN):c.100876G>A (p.Val33626Met) rs1222398324 0.00002
NM_001267550.2(TTN):c.100972G>A (p.Gly33658Arg) rs780484535 0.00002
NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu) rs368894429 0.00002
NM_001267550.2(TTN):c.101237G>A (p.Arg33746His) rs372584865 0.00002
NM_001267550.2(TTN):c.101282G>A (p.Arg33761Gln) rs774790424 0.00002
NM_001267550.2(TTN):c.101327C>T (p.Pro33776Leu) rs536357517 0.00002
NM_001267550.2(TTN):c.101345C>T (p.Thr33782Ile) rs771566432 0.00002
NM_001267550.2(TTN):c.101536A>G (p.Met33846Val) rs565546848 0.00002
NM_001267550.2(TTN):c.101599C>G (p.Leu33867Val) rs76194811 0.00002
NM_001267550.2(TTN):c.101749G>A (p.Val33917Ile) rs768379988 0.00002
NM_001267550.2(TTN):c.101941T>C (p.Tyr33981His) rs781686886 0.00002
NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg) rs1296387134 0.00002
NM_001267550.2(TTN):c.102155G>A (p.Arg34052Gln) rs369245991 0.00002
NM_001267550.2(TTN):c.102181C>T (p.Arg34061Cys) rs879220772 0.00002
NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu) rs1467698015 0.00002
NM_001267550.2(TTN):c.102284A>C (p.His34095Pro) rs1437743604 0.00002
NM_001267550.2(TTN):c.102308A>T (p.Asn34103Ile) rs557630306 0.00002
NM_001267550.2(TTN):c.102433G>A (p.Ala34145Thr) rs542891030 0.00002
NM_001267550.2(TTN):c.102682G>C (p.Gly34228Arg) rs555664963 0.00002
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro) rs556155561 0.00002
NM_001267550.2(TTN):c.103471G>A (p.Glu34491Lys) rs556218739 0.00002
NM_001267550.2(TTN):c.103484T>C (p.Leu34495Pro) rs373479287 0.00002
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837 0.00002
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His) rs561869617 0.00002
NM_001267550.2(TTN):c.104281C>T (p.Arg34761Trp) rs879071113 0.00002
NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly) rs766674127 0.00002
NM_001267550.2(TTN):c.104425G>C (p.Val34809Leu) rs754384143 0.00002
NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp) rs546085542 0.00002
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His) rs368063908 0.00002
NM_001267550.2(TTN):c.104654G>A (p.Arg34885Gln) rs368870767 0.00002
NM_001267550.2(TTN):c.104822C>A (p.Ala34941Asp) rs1445357252 0.00002
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys) rs727504918 0.00002
NM_001267550.2(TTN):c.104953A>G (p.Ser34985Gly) rs765030518 0.00002
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe) rs772718460 0.00002
NM_001267550.2(TTN):c.105227C>T (p.Ser35076Leu) rs747940468 0.00002
NM_001267550.2(TTN):c.105241G>A (p.Glu35081Lys) rs779952686 0.00002
NM_001267550.2(TTN):c.105916G>A (p.Val35306Met) rs1434315858 0.00002
NM_001267550.2(TTN):c.106061A>G (p.Gln35354Arg) rs546343124 0.00002
NM_001267550.2(TTN):c.106286C>A (p.Thr35429Lys) rs1241466221 0.00002
NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu) rs727504462 0.00002
NM_001267550.2(TTN):c.107104C>G (p.Pro35702Ala) rs551126367 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_001267550.2(TTN):c.107339G>A (p.Arg35780His) rs770904787 0.00002
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg) rs776981475 0.00002
NM_001267550.2(TTN):c.107773A>G (p.Thr35925Ala) rs781497669 0.00002
NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe) rs950902715 0.00002
NM_001267550.2(TTN):c.10825G>A (p.Glu3609Lys) rs1016683077 0.00002
NM_001267550.2(TTN):c.10840G>T (p.Glu3614Ter) rs540059730 0.00002
NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr) rs727505091 0.00002
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys) rs397517830 0.00002
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys) rs528766978 0.00002
NM_001267550.2(TTN):c.13320G>A (p.Met4440Ile) rs768996215 0.00002
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala) rs758920941 0.00002
NM_001267550.2(TTN):c.14296G>A (p.Asp4766Asn) rs981499527 0.00002
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323 0.00002
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly) rs369989679 0.00002
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys) rs530572005 0.00002
NM_001267550.2(TTN):c.15125C>T (p.Thr5042Met) rs1060500462 0.00002
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp) rs371044267 0.00002
NM_001267550.2(TTN):c.16028C>T (p.Ser5343Phe) rs369132752 0.00002
NM_001267550.2(TTN):c.16136A>C (p.Lys5379Thr) rs752346935 0.00002
NM_001267550.2(TTN):c.16868G>T (p.Gly5623Val) rs768364912 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser) rs375003845 0.00002
NM_001267550.2(TTN):c.18589+5G>A rs763752372 0.00002
NM_001267550.2(TTN):c.18959C>A (p.Pro6320His) rs886246785 0.00002
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu) rs1060500450 0.00002
NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser) rs180694107 0.00002
NM_001267550.2(TTN):c.205G>A (p.Ala69Thr) rs1370693255 0.00002
NM_001267550.2(TTN):c.21116-1G>A rs771575556 0.00002
NM_001267550.2(TTN):c.21612T>G (p.Ser7204Arg) rs780624577 0.00002
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) rs761223583 0.00002
NM_001267550.2(TTN):c.21907G>A (p.Glu7303Lys) rs774950387 0.00002
NM_001267550.2(TTN):c.22432A>G (p.Ile7478Val) rs1191020503 0.00002
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu) rs560272834 0.00002
NM_001267550.2(TTN):c.22689C>G (p.Ile7563Met) rs1060500529 0.00002
NM_001267550.2(TTN):c.22931G>A (p.Arg7644Gln) rs766675017 0.00002
NM_001267550.2(TTN):c.23770A>C (p.Lys7924Gln) rs770650362 0.00002
NM_001267550.2(TTN):c.24115G>A (p.Val8039Ile) rs759655046 0.00002
NM_001267550.2(TTN):c.24701C>T (p.Thr8234Ile) rs369521909 0.00002
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu) rs761929830 0.00002
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr) rs727503646 0.00002
NM_001267550.2(TTN):c.26579G>A (p.Ser8860Asn) rs1240256366 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100 0.00002
NM_001267550.2(TTN):c.27426G>A (p.Ser9142=) rs368081453 0.00002
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu) rs72648995 0.00002
NM_001267550.2(TTN):c.28099C>T (p.Leu9367Phe) rs748483786 0.00002
NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val) rs770782767 0.00002
NM_001267550.2(TTN):c.28744G>A (p.Val9582Ile) rs537805395 0.00002
NM_001267550.2(TTN):c.29066C>G (p.Thr9689Ser) rs777878480 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr) rs781737736 0.00002
NM_001267550.2(TTN):c.29962+1G>T rs774961188 0.00002
NM_001267550.2(TTN):c.2996G>A (p.Arg999His) rs371757623 0.00002
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro) rs762662455 0.00002
NM_001267550.2(TTN):c.32542C>T (p.Pro10848Ser) rs368286625 0.00002
NM_001267550.2(TTN):c.32826del (p.Val10943fs) rs1440823660 0.00002
NM_001267550.2(TTN):c.33052C>T (p.Arg11018Trp) rs372118864 0.00002
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu) rs193051231 0.00002
NM_001267550.2(TTN):c.34006C>T (p.Arg11336Cys) rs763380355 0.00002
NM_001267550.2(TTN):c.34537+3A>G rs1427570685 0.00002
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr) rs1393138345 0.00002
NM_001267550.2(TTN):c.35470+4T>C rs1389073196 0.00002
NM_001267550.2(TTN):c.35797G>C (p.Glu11933Gln) rs769110483 0.00002
NM_001267550.2(TTN):c.36043+4C>T rs370368656 0.00002
NM_001267550.2(TTN):c.36043+5G>A rs561444783 0.00002
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu) rs371317962 0.00002
NM_001267550.2(TTN):c.36499C>T (p.Pro12167Ser) rs780323492 0.00002
NM_001267550.2(TTN):c.36520C>A (p.Pro12174Thr) rs762482452 0.00002
NM_001267550.2(TTN):c.37543+1G>A rs1374931889 0.00002
NM_001267550.2(TTN):c.38275C>G (p.Pro12759Ala) rs1162101042 0.00002
NM_001267550.2(TTN):c.39064G>A (p.Val13022Ile) rs767090806 0.00002
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) rs766921440 0.00002
NM_001267550.2(TTN):c.39127G>A (p.Val13043Met) rs560962534 0.00002
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys) rs761974767 0.00002
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser) rs202240398 0.00002
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe) rs759268958 0.00002
NM_001267550.2(TTN):c.39895G>T (p.Glu13299Ter) rs758166967 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr) rs373988162 0.00002
NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys) rs759050071 0.00002
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys) rs754182768 0.00002
NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val) rs754227553 0.00002
NM_001267550.2(TTN):c.4337C>A (p.Thr1446Lys) rs879232192 0.00002
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys) rs377015571 0.00002
NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met) rs778576436 0.00002
NM_001267550.2(TTN):c.44530G>A (p.Ala14844Thr) rs772053966 0.00002
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys) rs140795503 0.00002
NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val) rs780634456 0.00002
NM_001267550.2(TTN):c.48079C>T (p.Arg16027Cys) rs765032242 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.48983C>T (p.Thr16328Ile) rs770839243 0.00002
NM_001267550.2(TTN):c.50084G>A (p.Arg16695Gln) rs794729451 0.00002
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp) rs369623681 0.00002
NM_001267550.2(TTN):c.50648C>A (p.Pro16883His) rs758756600 0.00002
NM_001267550.2(TTN):c.51337C>T (p.Pro17113Ser) rs768641489 0.00002
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln) rs775700218 0.00002
NM_001267550.2(TTN):c.52373T>C (p.Val17458Ala) rs760430370 0.00002
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) rs536494011 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.53769G>A (p.Leu17923=) rs1439566303 0.00002
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro) rs878999356 0.00002
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His) rs760383112 0.00002
NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser) rs777505893 0.00002
NM_001267550.2(TTN):c.55058A>G (p.Asn18353Ser) rs747601378 0.00002
NM_001267550.2(TTN):c.55405A>C (p.Thr18469Pro) rs1044328956 0.00002
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu) rs531760043 0.00002
NM_001267550.2(TTN):c.56051G>A (p.Cys18684Tyr) rs1025426023 0.00002
NM_001267550.2(TTN):c.56314A>G (p.Thr18772Ala) rs964263107 0.00002
NM_001267550.2(TTN):c.56557C>T (p.His18853Tyr) rs397517623 0.00002
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=) rs376310289 0.00002
NM_001267550.2(TTN):c.58342A>G (p.Lys19448Glu) rs900082928 0.00002
NM_001267550.2(TTN):c.58876G>A (p.Ala19626Thr) rs371278320 0.00002
NM_001267550.2(TTN):c.58882G>A (p.Val19628Ile) rs772550095 0.00002
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys) rs751863629 0.00002
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn) rs148353350 0.00002
NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val) rs878993043 0.00002
NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met) rs761374262 0.00002
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu) rs767322897 0.00002
NM_001267550.2(TTN):c.63521T>C (p.Ile21174Thr) rs1319446307 0.00002
NM_001267550.2(TTN):c.63896C>T (p.Thr21299Ile) rs1031526299 0.00002
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly) rs748901968 0.00002
NM_001267550.2(TTN):c.64475G>A (p.Gly21492Glu) rs879135883 0.00002
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala) rs397517693 0.00002
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His) rs751046367 0.00002
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr) rs752176305 0.00002
NM_001267550.2(TTN):c.65715A>C (p.Lys21905Asn) rs574615636 0.00002
NM_001267550.2(TTN):c.66544T>G (p.Tyr22182Asp) rs878854327 0.00002
NM_001267550.2(TTN):c.66940G>T (p.Asp22314Tyr) rs768380109 0.00002
NM_001267550.2(TTN):c.66958C>T (p.Arg22320Cys) rs772361876 0.00002
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp) rs776797528 0.00002
NM_001267550.2(TTN):c.6773C>T (p.Ala2258Val) rs72647881 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.68848C>A (p.Pro22950Thr) rs770007899 0.00002
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg) rs773592810 0.00002
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.7057+1G>A rs763909866 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) rs752648041 0.00002
NM_001267550.2(TTN):c.73636G>C (p.Asp24546His) rs1051495269 0.00002
NM_001267550.2(TTN):c.73759T>C (p.Cys24587Arg) rs776113871 0.00002
NM_001267550.2(TTN):c.75011G>A (p.Arg25004His) rs909041164 0.00002
NM_001267550.2(TTN):c.75554A>C (p.Lys25185Thr) rs371042435 0.00002
NM_001267550.2(TTN):c.75620C>G (p.Pro25207Arg) rs72646900 0.00002
NM_001267550.2(TTN):c.75746G>A (p.Arg25249His) rs773286477 0.00002
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His) rs397517703 0.00002
NM_001267550.2(TTN):c.7634C>T (p.Thr2545Ile) rs1016165797 0.00002
NM_001267550.2(TTN):c.76627A>G (p.Lys25543Glu) rs372016541 0.00002
NM_001267550.2(TTN):c.76967A>G (p.His25656Arg) rs755172663 0.00002
NM_001267550.2(TTN):c.78286G>A (p.Glu26096Lys) rs370515843 0.00002
NM_001267550.2(TTN):c.79105G>A (p.Val26369Ile) rs778729064 0.00002
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) rs769972835 0.00002
NM_001267550.2(TTN):c.79744A>C (p.Lys26582Gln) rs775918922 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.82022G>A (p.Arg27341Gln) rs555414240 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001267550.2(TTN):c.82583G>A (p.Arg27528Gln) rs765230578 0.00002
NM_001267550.2(TTN):c.82814A>G (p.Tyr27605Cys) rs753352392 0.00002
NM_001267550.2(TTN):c.83011G>C (p.Glu27671Gln) rs949881130 0.00002
NM_001267550.2(TTN):c.83324T>C (p.Ile27775Thr) rs769577217 0.00002
NM_001267550.2(TTN):c.83519T>C (p.Val27840Ala) rs752446232 0.00002
NM_001267550.2(TTN):c.83779A>C (p.Thr27927Pro) rs1164046049 0.00002
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val) rs886042586 0.00002
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp) rs757653038 0.00002
NM_001267550.2(TTN):c.85420C>T (p.Arg28474Cys) rs757771061 0.00002
NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val) rs554841820 0.00002
NM_001267550.2(TTN):c.86676G>T (p.Trp28892Cys) rs779407441 0.00002
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His) rs749606240 0.00002
NM_001267550.2(TTN):c.87940G>A (p.Ala29314Thr) rs923029692 0.00002
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val) rs397517740 0.00002
NM_001267550.2(TTN):c.88819C>T (p.Arg29607Trp) rs781330566 0.00002
NM_001267550.2(TTN):c.8905A>G (p.Ile2969Val) rs764394936 0.00002
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro) rs748326514 0.00002
NM_001267550.2(TTN):c.90412G>A (p.Gly30138Arg) rs1225356759 0.00002
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile) rs1060500591 0.00002
NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp) rs773600127 0.00002
NM_001267550.2(TTN):c.91642G>C (p.Ala30548Pro) rs369043548 0.00002
NM_001267550.2(TTN):c.91736T>C (p.Leu30579Pro) rs765022890 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp) rs727505280 0.00002
NM_001267550.2(TTN):c.92984C>A (p.Thr30995Asn) rs886042408 0.00002
NM_001267550.2(TTN):c.93737A>G (p.Lys31246Arg) rs775611779 0.00002
NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys) rs397517760 0.00002
NM_001267550.2(TTN):c.95330A>C (p.Glu31777Ala) rs955172279 0.00002
NM_001267550.2(TTN):c.95344G>A (p.Val31782Met) rs377076423 0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983 0.00002
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971 0.00002
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu) rs755717335 0.00002
NM_001267550.2(TTN):c.96718G>A (p.Glu32240Lys) rs374598326 0.00002
NM_001267550.2(TTN):c.97292C>T (p.Pro32431Leu) rs1060500426 0.00002
NM_001267550.2(TTN):c.97330C>T (p.Arg32444Cys) rs776164829 0.00002
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met) rs760676361 0.00002
NM_001267550.2(TTN):c.98464G>A (p.Asp32822Asn) rs921446344 0.00002
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys) rs764276622 0.00002
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001267550.2(TTN):c.99861A>G (p.Ile33287Met) rs758948672 0.00002
NM_001368067.1(LDB3):c.361C>T (p.Arg121Cys) rs750606592 0.00002
NM_001368067.1(LDB3):c.410C>T (p.Pro137Leu) rs938329394 0.00002
NM_001368067.1(LDB3):c.788G>A (p.Arg263His) rs780518038 0.00002
NM_001378030.1(CCDC78):c.1059C>T (p.Gly353=) rs773310049 0.00002
NM_001378030.1(CCDC78):c.1133+16G>T rs778741526 0.00002
NM_001378030.1(CCDC78):c.1196C>T (p.Thr399Ile) rs775067488 0.00002
NM_001378030.1(CCDC78):c.1278G>A (p.Glu426=) rs773837439 0.00002
NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val) rs1432121366 0.00002
NM_001378030.1(CCDC78):c.29G>A (p.Arg10Lys) rs893873268 0.00002
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu) rs745392382 0.00002
NM_001378030.1(CCDC78):c.535C>T (p.Arg179Trp) rs758399024 0.00002
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp) rs754019798 0.00002
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln) rs763959604 0.00002
NM_001378030.1(CCDC78):c.61-1G>A rs1006891646 0.00002
NM_001378030.1(CCDC78):c.613G>A (p.Gly205Arg) rs759028646 0.00002
NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile) rs757617074 0.00002
NM_001378030.1(CCDC78):c.721G>A (p.Asp241Asn) rs370899425 0.00002
NM_001378030.1(CCDC78):c.842T>A (p.Ile281Asn) rs1037631909 0.00002
NM_001378030.1(CCDC78):c.857G>A (p.Arg286His) rs750889592 0.00002
NM_001378030.1(CCDC78):c.874del (p.Leu292fs) rs746756519 0.00002
NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter) rs2040614414 0.00002
NM_001382567.1(STIM1):c.1355C>G (p.Ala452Gly) rs114915823 0.00002
NM_001382567.1(STIM1):c.1393C>T (p.Arg465Cys) rs749694629 0.00002
NM_001382567.1(STIM1):c.1591C>T (p.Arg531Trp) rs772902514 0.00002
NM_001382567.1(STIM1):c.1603A>G (p.Thr535Ala) rs200528072 0.00002
NM_001382567.1(STIM1):c.1651G>A (p.Asp551Asn) rs199914458 0.00002
NM_001382567.1(STIM1):c.1674G>A (p.Met558Ile) rs146111967 0.00002
NM_001382567.1(STIM1):c.1676G>A (p.Ser559Asn) rs200078549 0.00002
NM_001382567.1(STIM1):c.1761C>G (p.Ser587Arg) rs201543900 0.00002
NM_001382567.1(STIM1):c.1772T>C (p.Ile591Thr) rs1036967931 0.00002
NM_001382567.1(STIM1):c.1894C>T (p.Pro632Ser) rs200960094 0.00002
NM_001382567.1(STIM1):c.196G>A (p.Glu66Lys) rs199799231 0.00002
NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser) rs748277951 0.00002
NM_001382567.1(STIM1):c.853A>G (p.Lys285Glu) rs1474279628 0.00002
NM_001382567.1(STIM1):c.871A>G (p.Asn291Asp) rs201523207 0.00002
NM_001382567.1(STIM1):c.91G>C (p.Ala31Pro) rs368091975 0.00002
NM_001458.5(FLNC):c.1001G>A (p.Arg334His) rs779347920 0.00002
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val) rs777199447 0.00002
NM_001458.5(FLNC):c.1209G>A (p.Ala403=) rs746938160 0.00002
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys) rs374847180 0.00002
NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln) rs764751276 0.00002
NM_001458.5(FLNC):c.176A>G (p.Asp59Gly) rs1164296903 0.00002
NM_001458.5(FLNC):c.1798G>A (p.Glu600Lys) rs760911646 0.00002
NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr) rs1480694554 0.00002
NM_001458.5(FLNC):c.2389+19G>T rs1359230020 0.00002
NM_001458.5(FLNC):c.2389+5G>A rs901857994 0.00002
NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys) rs373514748 0.00002
NM_001458.5(FLNC):c.2560G>A (p.Ala854Thr) rs749855792 0.00002
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met) rs1037999644 0.00002
NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln) rs202039743 0.00002
NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val) rs574118437 0.00002
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys) rs541775814 0.00002
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile) rs759452636 0.00002
NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val) rs762793681 0.00002
NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu) rs377489161 0.00002
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys) rs766439553 0.00002
NM_001458.5(FLNC):c.3595A>G (p.Lys1199Glu) rs753260970 0.00002
NM_001458.5(FLNC):c.3781G>A (p.Glu1261Lys) rs747033771 0.00002
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg) rs1202331272 0.00002
NM_001458.5(FLNC):c.4457G>T (p.Gly1486Val) rs767473791 0.00002
NM_001458.5(FLNC):c.449A>G (p.Asp150Gly) rs760711912 0.00002
NM_001458.5(FLNC):c.44G>T (p.Gly15Val) rs766081127 0.00002
NM_001458.5(FLNC):c.4772G>A (p.Arg1591Gln) rs755741955 0.00002
NM_001458.5(FLNC):c.479C>T (p.Thr160Met) rs1357772572 0.00002
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala) rs775405275 0.00002
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser) rs150986092 0.00002
NM_001458.5(FLNC):c.5668+4A>C rs1259876470 0.00002
NM_001458.5(FLNC):c.6004+6C>T rs761548420 0.00002
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala) rs765064363 0.00002
NM_001458.5(FLNC):c.6053G>A (p.Arg2018His) rs764326184 0.00002
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro) rs745842738 0.00002
NM_001458.5(FLNC):c.6209-3C>G rs896971028 0.00002
NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala) rs373022507 0.00002
NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val) rs755736125 0.00002
NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln) rs368662317 0.00002
NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp) rs909093665 0.00002
NM_001458.5(FLNC):c.6727+3G>A rs771664894 0.00002
NM_001458.5(FLNC):c.7251+4T>G rs1389522053 0.00002
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn) rs550547714 0.00002
NM_001458.5(FLNC):c.7529C>T (p.Ala2510Val) rs1809086035 0.00002
NM_001458.5(FLNC):c.7589C>A (p.Thr2530Asn) rs766492460 0.00002
NM_001458.5(FLNC):c.7651G>C (p.Asp2551His) rs1187923021 0.00002
NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln) rs375213102 0.00002
NM_001458.5(FLNC):c.7666C>T (p.Pro2556Ser) rs765967888 0.00002
NM_001458.5(FLNC):c.7784C>T (p.Pro2595Leu) rs756144972 0.00002
NM_001458.5(FLNC):c.7972G>A (p.Val2658Met) rs1269145751 0.00002
NM_001458.5(FLNC):c.874G>A (p.Val292Met) rs1275499234 0.00002
NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser) rs769193585 0.00002
NM_001843.4(CNTN1):c.1140T>A (p.Asp380Glu) rs768371907 0.00002
NM_001843.4(CNTN1):c.1255C>A (p.Pro419Thr) rs758774084 0.00002
NM_001843.4(CNTN1):c.1631G>A (p.Gly544Asp) rs773805932 0.00002
NM_001843.4(CNTN1):c.1664A>G (p.His555Arg) rs761803826 0.00002
NM_001843.4(CNTN1):c.1691C>T (p.Ser564Phe) rs374678549 0.00002
NM_001843.4(CNTN1):c.2038C>T (p.Arg680Cys) rs1056153404 0.00002
NM_001843.4(CNTN1):c.2325C>A (p.Ser775Arg) rs538201110 0.00002
NM_001843.4(CNTN1):c.512G>A (p.Arg171His) rs201037986 0.00002
NM_001843.4(CNTN1):c.565G>C (p.Val189Leu) rs763318952 0.00002
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe) rs1179596064 0.00002
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met) rs1404246917 0.00002
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527 0.00002
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg) rs202109302 0.00002
NM_001848.3(COL6A1):c.1745C>T (p.Pro582Leu) rs766478019 0.00002
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser) rs780264446 0.00002
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met) rs764765574 0.00002
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val) rs886044481 0.00002
NM_001848.3(COL6A1):c.717C>T (p.Ile239=) rs775349013 0.00002
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp) rs531146637 0.00002
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala) rs773528946 0.00002
NM_001849.4(COL6A2):c.1236C>T (p.Gly412=) rs752255976 0.00002
NM_001849.4(COL6A2):c.1270-3C>T rs1488223613 0.00002
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu) rs1252515693 0.00002
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639 0.00002
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys) rs771658013 0.00002
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg) rs757603350 0.00002
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro) rs990733473 0.00002
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp) rs752366811 0.00002
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu) rs564873527 0.00002
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys) rs200709432 0.00002
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu) rs199736749 0.00002
NM_001849.4(COL6A2):c.2420C>T (p.Pro807Leu) rs768417049 0.00002
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly) rs11554668 0.00002
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp) rs373184224 0.00002
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met) rs752700701 0.00002
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp) rs762263982 0.00002
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser) rs769456044 0.00002
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln) rs376291264 0.00002
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys) rs760263812 0.00002
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu) rs757488307 0.00002
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306 0.00002
NM_001927.4(DES):c.1099A>C (p.Ile367Leu) rs62636494 0.00002
NM_001927.4(DES):c.1280A>G (p.Asn427Ser) rs142712150 0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005 0.00002
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656 0.00002
NM_001927.4(DES):c.184G>A (p.Gly62Arg) rs886044090 0.00002
NM_001927.4(DES):c.188C>A (p.Ala63Asp) rs1345937895 0.00002
NM_001927.4(DES):c.196C>A (p.Leu66Met) rs1320380570 0.00002
NM_001927.4(DES):c.199G>A (p.Gly67Arg) rs753419517 0.00002
NM_001927.4(DES):c.212C>T (p.Ala71Val) rs759235186 0.00002
NM_001927.4(DES):c.295C>G (p.Gln99Glu) rs794728992 0.00002
NM_001927.4(DES):c.40T>C (p.Tyr14His) rs750819338 0.00002
NM_001927.4(DES):c.566G>A (p.Arg189Gln) rs1025323214 0.00002
NM_001927.4(DES):c.609A>C (p.Glu203Asp) rs369495436 0.00002
NM_001927.4(DES):c.639G>A (p.Ala213=) rs377337947 0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420 0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 0.00002
NM_002469.3(MYF6):c.281G>A (p.Arg94Gln) rs201273759 0.00002
NM_002469.3(MYF6):c.331G>C (p.Glu111Gln) rs773695133 0.00002
NM_002469.3(MYF6):c.623T>C (p.Ile208Thr) rs766941896 0.00002
NM_003283.6(TNNT1):c.256T>G (p.Phe86Val) rs1222022158 0.00002
NM_003283.6(TNNT1):c.700G>A (p.Glu234Lys) rs1188124969 0.00002
NM_003283.6(TNNT1):c.769C>T (p.Arg257Cys) rs774943217 0.00002
NM_003283.6(TNNT1):c.793C>T (p.Arg265Trp) rs765317516 0.00002
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys) rs749309213 0.00002
NM_004168.4(SDHA):c.1136G>A (p.Arg379His) rs770719847 0.00002
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr) rs376597185 0.00002
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp) rs1355851620 0.00002
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg) rs770028533 0.00002
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) rs781747137 0.00002
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg) rs745592653 0.00002
NM_004168.4(SDHA):c.150+5G>T rs770610694 0.00002
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met) rs955444699 0.00002
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407 0.00002
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys) rs777622021 0.00002
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) rs181238392 0.00002
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn) rs769882609 0.00002
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) rs775350508 0.00002
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser) rs1352756438 0.00002
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) rs1318046349 0.00002
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr) rs878854629 0.00002
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) rs1126568 0.00002
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) rs575617625 0.00002
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser) rs749824479 0.00002
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu) rs759827541 0.00002
NM_004168.4(SDHA):c.809A>T (p.His270Leu) rs1381228775 0.00002
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser) rs751008647 0.00002
NM_004281.4(BAG3):c.1020A>G (p.Gln340=) rs781187541 0.00002
NM_004281.4(BAG3):c.1034A>T (p.Glu345Val) rs189646603 0.00002
NM_004281.4(BAG3):c.1096G>C (p.Val366Leu) rs1215731985 0.00002
NM_004281.4(BAG3):c.1163A>G (p.Lys388Arg) rs1405607704 0.00002
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys) rs778496291 0.00002
NM_004281.4(BAG3):c.1528C>T (p.Leu510Phe) rs771188059 0.00002
NM_004281.4(BAG3):c.1558C>T (p.Pro520Ser) rs760699965 0.00002
NM_004281.4(BAG3):c.1578G>T (p.Glu526Asp) rs777325497 0.00002
NM_004281.4(BAG3):c.1673C>T (p.Ala558Val) rs185537639 0.00002
NM_004281.4(BAG3):c.494C>T (p.Ser165Phe) rs143756613 0.00002
NM_004281.4(BAG3):c.668C>G (p.Pro223Arg) rs754615028 0.00002
NM_004281.4(BAG3):c.698A>G (p.Tyr233Cys) rs1415830597 0.00002
NM_004281.4(BAG3):c.715G>A (p.Glu239Lys) rs148544471 0.00002
NM_004281.4(BAG3):c.967A>G (p.Ser323Gly) rs765875627 0.00002
NM_004281.4(BAG3):c.983T>C (p.Val328Ala) rs765627299 0.00002
NM_004369.4(COL6A3):c.1069C>A (p.Pro357Thr) rs1174559820 0.00002
NM_004369.4(COL6A3):c.1897+3A>G rs369549597 0.00002
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln) rs762016120 0.00002
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe) rs750951694 0.00002
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=) rs770489225 0.00002
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu) rs746868834 0.00002
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile) rs749556880 0.00002
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His) rs982703428 0.00002
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr) rs1034783532 0.00002
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) rs140513454 0.00002
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser) rs770876436 0.00002
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val) rs754618002 0.00002
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys) rs768330671 0.00002
NM_004369.4(COL6A3):c.6210C>T (p.Pro2070=) rs774374140 0.00002
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr) rs374476448 0.00002
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126 0.00002
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln) rs766968738 0.00002
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp) rs746420745 0.00002
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser) rs778720252 0.00002
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu) rs776496050 0.00002
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His) rs769656291 0.00002
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr) rs905662421 0.00002
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr) rs1223531902 0.00002
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353 0.00002
NM_004370.6(COL12A1):c.189G>A (p.Thr63=) rs371298920 0.00002
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn) rs759182254 0.00002
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu) rs771124556 0.00002
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu) rs377482121 0.00002
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser) rs932009209 0.00002
NM_004370.6(COL12A1):c.2984-2A>G rs760316411 0.00002
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327 0.00002
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438 0.00002
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly) rs1385334403 0.00002
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189 0.00002
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461 0.00002
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr) rs757943935 0.00002
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser) rs750263276 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 0.00002
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln) rs1315131480 0.00002
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg) rs781184043 0.00002
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile) rs371624564 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr) rs780457606 0.00002
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904 0.00002
NM_006063.3(KLHL41):c.1306A>G (p.Lys436Glu) rs1185067965 0.00002
NM_006063.3(KLHL41):c.1392G>T (p.Arg464Ser) rs745775130 0.00002
NM_006063.3(KLHL41):c.1759T>C (p.Tyr587His) rs770685517 0.00002
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln) rs576773055 0.00002
NM_006063.3(KLHL41):c.757A>G (p.Lys253Glu) rs773708864 0.00002
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser) rs372307298 0.00002
NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala) rs781052225 0.00002
NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr) rs779978043 0.00002
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) rs752723849 0.00002
NM_006790.3(MYOT):c.385A>G (p.Ile129Val) rs1191595067 0.00002
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) rs140135928 0.00002
NM_006790.3(MYOT):c.762A>C (p.Gln254His) rs983379755 0.00002
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr) rs764439615 0.00002
NM_007078.3(LDB3):c.1001C>A (p.Pro334Gln) rs776058652 0.00002
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr) rs368888118 0.00002
NM_007078.3(LDB3):c.1321C>T (p.Pro441Ser) rs757728320 0.00002
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp) rs145655904 0.00002
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser) rs774224466 0.00002
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg) rs370521488 0.00002
NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn) rs150188572 0.00002
NM_007078.3(LDB3):c.1546C>T (p.Arg516Trp) rs773327911 0.00002
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr) rs1449865053 0.00002
NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp) rs374426474 0.00002
NM_007078.3(LDB3):c.1657C>A (p.His553Asn) rs1488010574 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_007078.3(LDB3):c.1703G>A (p.Arg568His) rs769156627 0.00002
NM_007078.3(LDB3):c.1745C>G (p.Thr582Ser) rs754840310 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn) rs754529329 0.00002
NM_007078.3(LDB3):c.338C>T (p.Thr113Met) rs563714303 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.47G>A (p.Arg16His) rs767986134 0.00002
NM_007078.3(LDB3):c.491C>T (p.Pro164Leu) rs761907380 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_007078.3(LDB3):c.608C>T (p.Ser203Leu) rs201538257 0.00002
NM_007078.3(LDB3):c.646A>T (p.Met216Leu) rs765199175 0.00002
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln) rs530979771 0.00002
NM_007078.3(LDB3):c.733G>A (p.Val245Ile) rs573061464 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_017534.6(MYH2):c.182C>T (p.Thr61Met) rs145979297 0.00002
NM_017534.6(MYH2):c.1958T>C (p.Val653Ala) rs1452856320 0.00002
NM_017534.6(MYH2):c.2707G>A (p.Gly903Ser) rs755189388 0.00002
NM_017534.6(MYH2):c.2915A>G (p.Lys972Arg) rs1386070071 0.00002
NM_017534.6(MYH2):c.2996C>A (p.Thr999Asn) rs767951536 0.00002
NM_017534.6(MYH2):c.3161T>C (p.Leu1054Pro) rs781763749 0.00002
NM_017534.6(MYH2):c.326G>A (p.Arg109His) rs1468175087 0.00002
NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr) rs769463886 0.00002
NM_017534.6(MYH2):c.3334A>G (p.Lys1112Glu) rs150830535 0.00002
NM_017534.6(MYH2):c.3361A>C (p.Ile1121Leu) rs767581337 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_017534.6(MYH2):c.3539T>C (p.Met1180Thr) rs765925366 0.00002
NM_017534.6(MYH2):c.373A>C (p.Thr125Pro) rs886044672 0.00002
NM_017534.6(MYH2):c.4163G>A (p.Arg1388His) rs745754711 0.00002
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln) rs781252325 0.00002
NM_017534.6(MYH2):c.425C>G (p.Ala142Gly) rs766305131 0.00002
NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr) rs778405343 0.00002
NM_017534.6(MYH2):c.4798G>A (p.Val1600Met) rs774036368 0.00002
NM_017534.6(MYH2):c.5087C>A (p.Ala1696Asp) rs1050339515 0.00002
NM_017534.6(MYH2):c.5153G>A (p.Arg1718His) rs755776701 0.00002
NM_017534.6(MYH2):c.5472+5G>A rs765560187 0.00002
NM_017534.6(MYH2):c.5477G>A (p.Arg1826Gln) rs766875105 0.00002
NM_017534.6(MYH2):c.5540G>A (p.Arg1847His) rs748605415 0.00002
NM_017534.6(MYH2):c.5647T>G (p.Ser1883Ala) rs746016363 0.00002
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln) rs201882457 0.00002
NM_017534.6(MYH2):c.979G>A (p.Asp327Asn) rs200893594 0.00002
NM_020451.3(SELENON):c.1075A>G (p.Ile359Val) rs201316362 0.00002
NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn) rs200146431 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_020451.3(SELENON):c.1649A>C (p.Lys550Thr) rs1001504099 0.00002
NM_020451.3(SELENON):c.164C>T (p.Ala55Val) rs2047850597 0.00002
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys) rs761068133 0.00002
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu) rs747408056 0.00002
NM_020451.3(SELENON):c.614A>C (p.His205Pro) rs745937377 0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) rs978886878 0.00002
NM_020451.3(SELENON):c.902C>T (p.Pro301Leu) rs767340103 0.00002
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp) rs1489695877 0.00002
NM_032790.4(ORAI1):c.13C>G (p.Pro5Ala) rs1253665950 0.00002
NM_032790.4(ORAI1):c.181T>C (p.Ser61Pro) rs201617764 0.00002
NM_032790.4(ORAI1):c.517G>A (p.Glu173Lys) rs533220170 0.00002
NM_032790.4(ORAI1):c.632C>A (p.Pro211His) rs782472239 0.00002
NM_032790.4(ORAI1):c.754G>A (p.Val252Ile) rs1485414099 0.00002
NM_032790.4(ORAI1):c.75C>G (p.Ser25Arg) rs1273511135 0.00002
NM_032790.4(ORAI1):c.823G>A (p.Glu275Lys) rs368440417 0.00002
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu) rs760559539 0.00002
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val) rs746346952 0.00002
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr) rs756816560 0.00002
NM_139343.3(BIN1):c.1541G>A (p.Arg514His) rs766615886 0.00002
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys) rs773732601 0.00002
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) rs771368114 0.00002
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys) rs1042277527 0.00002
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr) rs774273606 0.00002
NM_139343.3(BIN1):c.393C>T (p.Gly131=) rs1455926606 0.00002
NM_139343.3(BIN1):c.661G>A (p.Val221Met) rs573529529 0.00002
NM_139343.3(BIN1):c.775-3C>T rs373768625 0.00002
NM_145064.3(STAC3):c.166G>C (p.Gly56Arg) rs762781734 0.00002
NM_145064.3(STAC3):c.217G>C (p.Glu73Gln) rs777991873 0.00002
NM_145064.3(STAC3):c.232C>G (p.Pro78Ala) rs751491183 0.00002
NM_145064.3(STAC3):c.251T>G (p.Leu84Arg) rs201754072 0.00002
NM_145064.3(STAC3):c.720+6A>G rs375395653 0.00002
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala) rs1049537934 0.00002
NM_152393.4(KLHL40):c.1130C>T (p.Pro377Leu) rs760884994 0.00002
NM_152393.4(KLHL40):c.1138G>A (p.Ala380Thr) rs561674449 0.00002
NM_152393.4(KLHL40):c.1243T>C (p.Tyr415His) rs759757085 0.00002
NM_152393.4(KLHL40):c.124C>A (p.Arg42Ser) rs763047874 0.00002
NM_152393.4(KLHL40):c.1357T>C (p.Tyr453His) rs1305175995 0.00002
NM_152393.4(KLHL40):c.1369G>C (p.Val457Leu) rs568243443 0.00002
NM_152393.4(KLHL40):c.1439T>C (p.Met480Thr) rs920578484 0.00002
NM_152393.4(KLHL40):c.1493C>G (p.Thr498Ser) rs761479692 0.00002
NM_152393.4(KLHL40):c.388C>T (p.Leu130Phe) rs142509355 0.00002
NM_152393.4(KLHL40):c.475C>G (p.His159Asp) rs753666861 0.00002
NM_152393.4(KLHL40):c.515T>C (p.Leu172Pro) rs749614458 0.00002
NM_152393.4(KLHL40):c.653C>T (p.Pro218Leu) rs1023047173 0.00002
NM_152393.4(KLHL40):c.764A>G (p.Gln255Arg) rs139088361 0.00002
NM_152393.4(KLHL40):c.783C>A (p.His261Gln) rs769290437 0.00002
NM_152393.4(KLHL40):c.806G>A (p.Arg269Gln) rs770828570 0.00002
NM_152393.4(KLHL40):c.988G>T (p.Ala330Ser) rs1439774487 0.00002
NM_198271.5(LMOD3):c.110C>G (p.Ser37Trp) rs572092252 0.00002
NM_198271.5(LMOD3):c.1139C>T (p.Pro380Leu) rs765223466 0.00002
NM_198271.5(LMOD3):c.1249A>T (p.Ile417Leu) rs745957045 0.00002
NM_198271.5(LMOD3):c.1415C>A (p.Pro472Gln) rs771791740 0.00002
NM_198271.5(LMOD3):c.461A>G (p.Asp154Gly) rs773327736 0.00002
NM_198271.5(LMOD3):c.469G>A (p.Asp157Asn) rs574142691 0.00002
NM_198271.5(LMOD3):c.511A>G (p.Arg171Gly) rs376560960 0.00002
NM_198271.5(LMOD3):c.797T>C (p.Ile266Thr) rs545644080 0.00002
NM_198271.5(LMOD3):c.951C>G (p.Ile317Met) rs761586160 0.00002
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys) rs749232741 0.00002
NM_198859.4(PRICKLE2):c.1642G>A (p.Ala548Thr) rs375557486 0.00002
NM_198859.4(PRICKLE2):c.1804G>A (p.Ala602Thr) rs772970017 0.00002
NM_198859.4(PRICKLE2):c.1861C>T (p.Leu621Phe) rs759047402 0.00002
NM_198859.4(PRICKLE2):c.1975G>A (p.Gly659Ser) rs141791087 0.00002
NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr) rs200223474 0.00002
NM_198859.4(PRICKLE2):c.229C>G (p.Leu77Val) rs765702961 0.00002
NM_198859.4(PRICKLE2):c.2393C>T (p.Pro798Leu) rs371055489 0.00002
NM_198859.4(PRICKLE2):c.2459A>G (p.Lys820Arg) rs138533058 0.00002
NM_198859.4(PRICKLE2):c.268T>G (p.Cys90Gly) rs1443371091 0.00002
NM_198859.4(PRICKLE2):c.396G>T (p.Gln132His) rs1446878933 0.00002
NM_198859.4(PRICKLE2):c.427G>A (p.Ala143Thr) rs372791530 0.00002
NM_198859.4(PRICKLE2):c.454G>A (p.Gly152Ser) rs199566606 0.00002
NM_198859.4(PRICKLE2):c.680C>T (p.Thr227Ile) rs750828226 0.00002
NM_198859.4(PRICKLE2):c.923G>A (p.Arg308Gln) rs150386533 0.00002
NM_198859.4(PRICKLE2):c.926C>G (p.Ala309Gly) rs201966297 0.00002
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala) rs1287389347 0.00002
NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro) rs889489701 0.00002
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) rs766426370 0.00002
NM_000036.3(AMPD1):c.1000A>C (p.Thr334Pro) rs756169459 0.00001
NM_000036.3(AMPD1):c.1058A>C (p.Tyr353Ser) rs1398708257 0.00001
NM_000036.3(AMPD1):c.1102A>G (p.Thr368Ala) rs1431463591 0.00001
NM_000036.3(AMPD1):c.1210G>C (p.Ala404Pro) rs762722076 0.00001
NM_000036.3(AMPD1):c.1221C>G (p.Ile407Met) rs144014236 0.00001
NM_000036.3(AMPD1):c.1316T>G (p.Leu439Arg) rs1276731554 0.00001
NM_000036.3(AMPD1):c.1331T>A (p.Val444Asp) rs773253177 0.00001
NM_000036.3(AMPD1):c.1361C>T (p.Thr454Ile) rs768842182 0.00001
NM_000036.3(AMPD1):c.1385T>C (p.Ile462Thr) rs781739971 0.00001
NM_000036.3(AMPD1):c.1414C>A (p.Leu472Ile) rs761635115 0.00001
NM_000036.3(AMPD1):c.1469C>T (p.Thr490Ile) rs1657968687 0.00001
NM_000036.3(AMPD1):c.1679+1G>C rs1311864516 0.00001
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) rs377185948 0.00001
NM_000036.3(AMPD1):c.1709G>A (p.Arg570Gln) rs760410776 0.00001
NM_000036.3(AMPD1):c.1761G>A (p.Met587Ile) rs1422341304 0.00001
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn) rs866261066 0.00001
NM_000036.3(AMPD1):c.509A>T (p.Asp170Val) rs572362619 0.00001
NM_000036.3(AMPD1):c.52C>T (p.Arg18Cys) rs369335745 0.00001
NM_000036.3(AMPD1):c.782A>G (p.His261Arg) rs554380360 0.00001
NM_000036.3(AMPD1):c.875G>A (p.Arg292Gln) rs1290122973 0.00001
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) rs142123340 0.00001
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) rs977521848 0.00001
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) rs376769286 0.00001
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) rs1557192022 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) rs2068413364 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000116.5(TAFAZZIN):c.460+5G>A rs1325571965 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924 0.00001
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His) rs371236390 0.00001
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300 0.00001
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00001
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496 0.00001
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val) rs751092349 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.1939G>C (p.Asp647His) rs1669533378 0.00001
NM_000182.5(HADHA):c.1958A>G (p.Asp653Gly) rs1214955457 0.00001
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly) rs1669530550 0.00001
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr) rs143434901 0.00001
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu) rs1348209738 0.00001
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr) rs1281408938 0.00001
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg) rs145798498 0.00001
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn) rs1347586924 0.00001
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp) rs746937892 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr) rs369774960 0.00001
NM_000183.3(HADHB):c.1315A>G (p.Met439Val) rs1392529342 0.00001
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp) rs781574694 0.00001
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly) rs971767907 0.00001
NM_000183.3(HADHB):c.1390-2A>G rs1297095534 0.00001
NM_000183.3(HADHB):c.173A>G (p.Asp58Gly) rs746076418 0.00001
NM_000183.3(HADHB):c.230A>G (p.His77Arg) rs760290863 0.00001
NM_000183.3(HADHB):c.443-10T>C rs371257973 0.00001
NM_000183.3(HADHB):c.503T>A (p.Met168Lys) rs1672656422 0.00001
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln) rs749861331 0.00001
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu) rs758393205 0.00001
NM_000183.3(HADHB):c.74C>T (p.Pro25Leu) rs1434038212 0.00001
NM_000183.3(HADHB):c.809C>T (p.Pro270Leu) rs767202789 0.00001
NM_000183.3(HADHB):c.872A>G (p.Lys291Arg) rs573709691 0.00001
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser) rs891954464 0.00001
NM_000183.3(HADHB):c.98G>A (p.Arg33Gln) rs372980146 0.00001
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys) rs782664128 0.00001
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln) rs782032230 0.00001
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile) rs782705509 0.00001
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln) rs782469735 0.00001
NM_000252.3(MTM1):c.646G>A (p.Val216Ile) rs782156492 0.00001
NM_000252.3(MTM1):c.65C>T (p.Thr22Met) rs781886721 0.00001
NM_000252.3(MTM1):c.867+4A>T rs1322584849 0.00001
NM_000252.3(MTM1):c.911C>T (p.Ala304Val) rs781871854 0.00001
NM_000252.3(MTM1):c.931A>G (p.Ile311Val) rs782444216 0.00001
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln) rs782462553 0.00001
NM_001100.4(ACTA1):c.329C>T (p.Ala110Val) rs970679543 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.455-9C>G rs772957464 0.00001
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu) rs1255258064 0.00001
NM_001100.4(ACTA1):c.616+5G>A rs773010488 0.00001
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser) rs148514635 0.00001
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr) rs1659954399 0.00001
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser) rs546670743 0.00001
NM_001101362.3(KBTBD13):c.1016C>T (p.Pro339Leu) rs772222290 0.00001
NM_001101362.3(KBTBD13):c.1048C>A (p.Arg350Ser) rs779744493 0.00001
NM_001101362.3(KBTBD13):c.1060T>C (p.Tyr354His) rs1215359382 0.00001
NM_001101362.3(KBTBD13):c.1105A>G (p.Ile369Val) rs780785524 0.00001
NM_001101362.3(KBTBD13):c.1112G>C (p.Cys371Ser) rs1019923438 0.00001
NM_001101362.3(KBTBD13):c.1129G>A (p.Gly377Ser) rs1322919655 0.00001
NM_001101362.3(KBTBD13):c.1133A>G (p.Gln378Arg) rs769042275 0.00001
NM_001101362.3(KBTBD13):c.1189G>A (p.Val397Met) rs1299910198 0.00001
NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp) rs775442274 0.00001
NM_001101362.3(KBTBD13):c.122G>A (p.Arg41Gln) rs760757402 0.00001
NM_001101362.3(KBTBD13):c.1248C>G (p.Ile416Met) rs1291680168 0.00001
NM_001101362.3(KBTBD13):c.1265G>A (p.Arg422Gln) rs767053257 0.00001
NM_001101362.3(KBTBD13):c.1291C>T (p.Pro431Ser) rs755476256 0.00001
NM_001101362.3(KBTBD13):c.1294C>T (p.Arg432Trp) rs1376646798 0.00001
NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro) rs765124692 0.00001
NM_001101362.3(KBTBD13):c.1331C>T (p.Pro444Leu) rs1301827044 0.00001
NM_001101362.3(KBTBD13):c.154G>A (p.Val52Ile) rs1268655819 0.00001
NM_001101362.3(KBTBD13):c.167G>A (p.Gly56Glu) rs1242559901 0.00001
NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu) rs752840796 0.00001
NM_001101362.3(KBTBD13):c.206G>A (p.Arg69Gln) rs762769253 0.00001
NM_001101362.3(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454 0.00001
NM_001101362.3(KBTBD13):c.367C>T (p.His123Tyr) rs1013537691 0.00001
NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp) rs746640081 0.00001
NM_001101362.3(KBTBD13):c.491C>G (p.Thr164Arg) rs1404956647 0.00001
NM_001101362.3(KBTBD13):c.511G>A (p.Glu171Lys) rs1485601321 0.00001
NM_001101362.3(KBTBD13):c.542A>C (p.Asp181Ala) rs1386416146 0.00001
NM_001101362.3(KBTBD13):c.557C>T (p.Ala186Val) rs1435148449 0.00001
NM_001101362.3(KBTBD13):c.607G>C (p.Gly203Arg) rs944113571 0.00001
NM_001101362.3(KBTBD13):c.632T>A (p.Leu211His) rs924967048 0.00001
NM_001101362.3(KBTBD13):c.646G>A (p.Gly216Ser) rs1052506752 0.00001
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) rs555158930 0.00001
NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly) rs1193653136 0.00001
NM_001101362.3(KBTBD13):c.677A>G (p.Glu226Gly) rs1339316249 0.00001
NM_001101362.3(KBTBD13):c.739C>A (p.Pro247Thr) rs1187855959 0.00001
NM_001101362.3(KBTBD13):c.775C>T (p.Arg259Cys) rs780964425 0.00001
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe) rs769416249 0.00001
NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser) rs764697405 0.00001
NM_001101362.3(KBTBD13):c.811C>G (p.Pro271Ala) rs1436431809 0.00001
NM_001101362.3(KBTBD13):c.82C>T (p.His28Tyr) rs2086976630 0.00001
NM_001101362.3(KBTBD13):c.853T>C (p.Trp285Arg) rs768886246 0.00001
NM_001101362.3(KBTBD13):c.8G>A (p.Arg3Gln) rs759494469 0.00001
NM_001101362.3(KBTBD13):c.901G>A (p.Ala301Thr) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.914G>A (p.Gly305Asp) rs2086998690 0.00001
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro) rs762447469 0.00001
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met) rs530565802 0.00001
NM_001164508.2(NEB):c.10016T>G (p.Val3339Gly) rs778763661 0.00001
NM_001164508.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791 0.00001
NM_001164508.2(NEB):c.10093G>A (p.Asp3365Asn) rs1181779285 0.00001
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg) rs372053480 0.00001
NM_001164508.2(NEB):c.10154A>G (p.Lys3385Arg) rs186278440 0.00001
NM_001164508.2(NEB):c.10166A>G (p.Gln3389Arg) rs2098541776 0.00001
NM_001164508.2(NEB):c.10223A>G (p.Lys3408Arg) rs762891609 0.00001
NM_001164508.2(NEB):c.10312G>A (p.Val3438Met) rs746015217 0.00001
NM_001164508.2(NEB):c.10382C>A (p.Thr3461Asn) rs1003683269 0.00001
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=) rs368803600 0.00001
NM_001164508.2(NEB):c.10846C>T (p.Arg3616Trp) rs573036942 0.00001
NM_001164508.2(NEB):c.10856A>G (p.Tyr3619Cys) rs1049205301 0.00001
NM_001164508.2(NEB):c.10910T>C (p.Ile3637Thr) rs2098276722 0.00001
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His) rs1386975124 0.00001
NM_001164508.2(NEB):c.11181+3A>G rs1448725511 0.00001
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg) rs761139484 0.00001
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00001
NM_001164508.2(NEB):c.11506G>A (p.Asp3836Asn) rs758723038 0.00001
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr) rs758723038 0.00001
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln) rs755390933 0.00001
NM_001164508.2(NEB):c.11582C>T (p.Ala3861Val) rs773465698 0.00001
NM_001164508.2(NEB):c.11884A>C (p.Lys3962Gln) rs1194302071 0.00001
NM_001164508.2(NEB):c.11893T>G (p.Ser3965Ala) rs1397887930 0.00001
NM_001164508.2(NEB):c.11946G>A (p.Met3982Ile) rs2097912146 0.00001
NM_001164508.2(NEB):c.12005A>C (p.Asp4002Ala) rs1457058013 0.00001
NM_001164508.2(NEB):c.12171G>T (p.Lys4057Asn) rs747847680 0.00001
NM_001164508.2(NEB):c.12176C>G (p.Ser4059Cys) rs1475951452 0.00001
NM_001164508.2(NEB):c.12192G>A (p.Met4064Ile) rs776639447 0.00001
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr) rs557283717 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 0.00001
NM_001164508.2(NEB):c.1257T>G (p.Asp419Glu) rs549485763 0.00001
NM_001164508.2(NEB):c.12639+2dup rs2097758186 0.00001
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val) rs959840049 0.00001
NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869 0.00001
NM_001164508.2(NEB):c.1365+5G>T rs1553607969 0.00001
NM_001164508.2(NEB):c.1366A>G (p.Lys456Glu) rs1484438248 0.00001
NM_001164508.2(NEB):c.1470C>T (p.Asp490=) rs778189876 0.00001
NM_001164508.2(NEB):c.1478A>G (p.Tyr493Cys) rs1576674181 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047 0.00001
NM_001164508.2(NEB):c.16760G>A (p.Gly5587Glu) rs1243813979 0.00001
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala) rs527672223 0.00001
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000 0.00001
NM_001164508.2(NEB):c.16967C>T (p.Thr5656Ile) rs1353681047 0.00001
NM_001164508.2(NEB):c.17013+3A>G rs200059848 0.00001
NM_001164508.2(NEB):c.17080A>G (p.Ile5694Val) rs1287787210 0.00001
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu) rs776095941 0.00001
NM_001164508.2(NEB):c.1718T>C (p.Phe573Ser) rs767710795 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077 0.00001
NM_001164508.2(NEB):c.1736C>T (p.Ala579Val) rs2099581961 0.00001
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr) rs780600292 0.00001
NM_001164508.2(NEB):c.17416G>A (p.Glu5806Lys) rs748311158 0.00001
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178 0.00001
NM_001164508.2(NEB):c.17545C>T (p.Arg5849Cys) rs771214344 0.00001
NM_001164508.2(NEB):c.1777A>G (p.Ser593Gly) rs200951652 0.00001
NM_001164508.2(NEB):c.17844+5T>C rs748989842 0.00001
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060 0.00001
NM_001164508.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538 0.00001
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg) rs1166853973 0.00001
NM_001164508.2(NEB):c.18295C>T (p.Pro6099Ser) rs1269081768 0.00001
NM_001164508.2(NEB):c.18330T>G (p.Ile6110Met) rs2096323080 0.00001
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr) rs1577779523 0.00001
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr) rs764500250 0.00001
NM_001164508.2(NEB):c.18568G>A (p.Val6190Met) rs770824743 0.00001
NM_001164508.2(NEB):c.18709C>G (p.His6237Asp) rs750141196 0.00001
NM_001164508.2(NEB):c.18811C>T (p.His6271Tyr) rs932662350 0.00001
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg) rs1015281617 0.00001
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp) rs746394316 0.00001
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu) rs774608228 0.00001
NM_001164508.2(NEB):c.1942A>T (p.Asn648Tyr) rs1553592578 0.00001
NM_001164508.2(NEB):c.19486A>G (p.Met6496Val) rs1354087086 0.00001
NM_001164508.2(NEB):c.19558G>A (p.Glu6520Lys) rs753229810 0.00001
NM_001164508.2(NEB):c.19624G>A (p.Asp6542Asn) rs757407447 0.00001
NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr) rs756123091 0.00001
NM_001164508.2(NEB):c.19732-5G>A rs779841022 0.00001
NM_001164508.2(NEB):c.19796T>C (p.Val6599Ala) rs1238663844 0.00001
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688 0.00001
NM_001164508.2(NEB):c.19940G>T (p.Ser6647Ile) rs2095355799 0.00001
NM_001164508.2(NEB):c.19944+7A>G rs201751179 0.00001
NM_001164508.2(NEB):c.19958C>A (p.Thr6653Asn) rs1379492488 0.00001
NM_001164508.2(NEB):c.19967G>A (p.Arg6656His) rs767200761 0.00001
NM_001164508.2(NEB):c.1998+4C>A rs763334937 0.00001
NM_001164508.2(NEB):c.1998+5G>A rs1015618560 0.00001
NM_001164508.2(NEB):c.1999G>A (p.Ala667Thr) rs750186349 0.00001
NM_001164508.2(NEB):c.20040G>C (p.Met6680Ile) rs368883773 0.00001
NM_001164508.2(NEB):c.20052C>A (p.Phe6684Leu) rs750704829 0.00001
NM_001164508.2(NEB):c.20122G>T (p.Val6708Phe) rs1312710050 0.00001
NM_001164508.2(NEB):c.20230C>A (p.Gln6744Lys) rs766890449 0.00001
NM_001164508.2(NEB):c.20258G>A (p.Ser6753Asn) rs2094881047 0.00001
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711 0.00001
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile) rs951646007 0.00001
NM_001164508.2(NEB):c.20767G>A (p.Val6923Met) rs753673376 0.00001
NM_001164508.2(NEB):c.20831C>T (p.Thr6944Ile) rs763942330 0.00001
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys) rs901568718 0.00001
NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln) rs1487630736 0.00001
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113 0.00001
NM_001164508.2(NEB):c.21209A>G (p.Tyr7070Cys) rs754366347 0.00001
NM_001164508.2(NEB):c.21269C>T (p.Pro7090Leu) rs752467283 0.00001
NM_001164508.2(NEB):c.21312+5G>A rs778363526 0.00001
NM_001164508.2(NEB):c.2135A>T (p.Asp712Val) rs563934691 0.00001
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile) rs766520487 0.00001
NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe) rs794727042 0.00001
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr) rs1229421352 0.00001
NM_001164508.2(NEB):c.21628G>A (p.Asp7210Asn) rs2090426850 0.00001
NM_001164508.2(NEB):c.21630+6T>G rs1401750275 0.00001
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser) rs751872533 0.00001
NM_001164508.2(NEB):c.21829C>A (p.Gln7277Lys) rs887471790 0.00001
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=) rs770721746 0.00001
NM_001164508.2(NEB):c.21974A>G (p.Glu7325Gly) rs1159938154 0.00001
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg) rs1447292730 0.00001
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp) rs376684415 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22124C>G (p.Thr7375Ser) rs1195608964 0.00001
NM_001164508.2(NEB):c.22161+5G>C rs376988538 0.00001
NM_001164508.2(NEB):c.22374+6G>A rs749050869 0.00001
NM_001164508.2(NEB):c.22412A>G (p.His7471Arg) rs1553641474 0.00001
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala) rs886054928 0.00001
NM_001164508.2(NEB):c.22537A>G (p.Lys7513Glu) rs570049431 0.00001
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr) rs771643485 0.00001
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln) rs903199022 0.00001
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly) rs776739582 0.00001
NM_001164508.2(NEB):c.2306G>A (p.Ser769Asn) rs534124991 0.00001
NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys) rs1476557676 0.00001
NM_001164508.2(NEB):c.23594T>C (p.Ile7865Thr) rs2068741180 0.00001
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg) rs1480807112 0.00001
NM_001164508.2(NEB):c.23649G>A (p.Ser7883=) rs778102984 0.00001
NM_001164508.2(NEB):c.23660A>C (p.Lys7887Thr) rs1166941249 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg) rs762094581 0.00001
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala) rs1253296856 0.00001
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly) rs1318564274 0.00001
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser) rs1461067378 0.00001
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val) rs1312647029 0.00001
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu) rs1037262755 0.00001
NM_001164508.2(NEB):c.24198C>A (p.Asn8066Lys) rs2061715771 0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 0.00001
NM_001164508.2(NEB):c.24254C>G (p.Thr8085Ser) rs1297487988 0.00001
NM_001164508.2(NEB):c.24262A>G (p.Met8088Val) rs746180925 0.00001
NM_001164508.2(NEB):c.24293T>C (p.Ile8098Thr) rs372228043 0.00001
NM_001164508.2(NEB):c.24295A>T (p.Ser8099Cys) rs1489581077 0.00001
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe) rs1217235799 0.00001
NM_001164508.2(NEB):c.2437G>A (p.Glu813Lys) rs752442261 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=) rs527744844 0.00001
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr) rs1320244420 0.00001
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=) rs1230102324 0.00001
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile) rs2058043130 0.00001
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys) rs745632829 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 0.00001
NM_001164508.2(NEB):c.2523+5G>C rs755864993 0.00001
NM_001164508.2(NEB):c.2533A>G (p.Lys845Glu) rs772154599 0.00001
NM_001164508.2(NEB):c.25405-3T>G rs1222497271 0.00001
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter) rs1242654062 0.00001
NM_001164508.2(NEB):c.2579G>A (p.Ser860Asn) rs1368018193 0.00001
NM_001164508.2(NEB):c.2593C>T (p.Pro865Ser) rs751373246 0.00001
NM_001164508.2(NEB):c.2909A>T (p.Glu970Val) rs1337927808 0.00001
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712 0.00001
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly) rs748741238 0.00001
NM_001164508.2(NEB):c.3155A>G (p.Tyr1052Cys) rs758214665 0.00001
NM_001164508.2(NEB):c.3168G>T (p.Leu1056Phe) rs1254743889 0.00001
NM_001164508.2(NEB):c.3207T>G (p.Asp1069Glu) rs1419430871 0.00001
NM_001164508.2(NEB):c.3224C>T (p.Ala1075Val) rs574309369 0.00001
NM_001164508.2(NEB):c.3255+2dup rs1276026682 0.00001
NM_001164508.2(NEB):c.3275A>C (p.Tyr1092Ser) rs771687432 0.00001
NM_001164508.2(NEB):c.334C>A (p.Pro112Thr) rs369292364 0.00001
NM_001164508.2(NEB):c.3371G>A (p.Arg1124Gln) rs750762588 0.00001
NM_001164508.2(NEB):c.3373G>C (p.Glu1125Gln) rs757784515 0.00001
NM_001164508.2(NEB):c.3379A>G (p.Lys1127Glu) rs1180667550 0.00001
NM_001164508.2(NEB):c.3532G>A (p.Glu1178Lys) rs774703099 0.00001
NM_001164508.2(NEB):c.3774T>C (p.Asp1258=) rs761903657 0.00001
NM_001164508.2(NEB):c.390T>A (p.Asp130Glu) rs2099787749 0.00001
NM_001164508.2(NEB):c.3987T>C (p.Asp1329=) rs764778381 0.00001
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr) rs1219059740 0.00001
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser) rs774219262 0.00001
NM_001164508.2(NEB):c.4094A>T (p.Gln1365Leu) rs375155384 0.00001
NM_001164508.2(NEB):c.4102C>T (p.Arg1368Cys) rs772128314 0.00001
NM_001164508.2(NEB):c.4109A>G (p.Tyr1370Cys) rs1230970164 0.00001
NM_001164508.2(NEB):c.4229A>G (p.His1410Arg) rs758328454 0.00001
NM_001164508.2(NEB):c.422G>T (p.Gly141Val) rs973669056 0.00001
NM_001164508.2(NEB):c.4233T>G (p.His1411Gln) rs2099312487 0.00001
NM_001164508.2(NEB):c.4375A>G (p.Lys1459Glu) rs371542110 0.00001
NM_001164508.2(NEB):c.4507-3T>C rs747017871 0.00001
NM_001164508.2(NEB):c.452A>T (p.Asp151Val) rs2099785772 0.00001
NM_001164508.2(NEB):c.4555G>A (p.Asp1519Asn) rs781655186 0.00001
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys) rs1257025966 0.00001
NM_001164508.2(NEB):c.4670A>G (p.Asp1557Gly) rs774802662 0.00001
NM_001164508.2(NEB):c.4693A>G (p.Lys1565Glu) rs767580883 0.00001
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp) rs751602407 0.00001
NM_001164508.2(NEB):c.4859C>T (p.Ala1620Val) rs2099215851 0.00001
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile) rs1575593044 0.00001
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp) rs369533357 0.00001
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596 0.00001
NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu) rs971655417 0.00001
NM_001164508.2(NEB):c.53T>C (p.Val18Ala) rs781637539 0.00001
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly) rs1466182533 0.00001
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr) rs763408172 0.00001
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg) rs755003638 0.00001
NM_001164508.2(NEB):c.5866A>C (p.Ser1956Arg) rs1258945263 0.00001
NM_001164508.2(NEB):c.5912C>T (p.Thr1971Ile) rs762592136 0.00001
NM_001164508.2(NEB):c.5972A>G (p.His1991Arg) rs750070644 0.00001
NM_001164508.2(NEB):c.6523T>C (p.Trp2175Arg) rs1003397118 0.00001
NM_001164508.2(NEB):c.652T>G (p.Phe218Val) rs1347757687 0.00001
NM_001164508.2(NEB):c.6530A>G (p.Lys2177Arg) rs768844040 0.00001
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser) rs1369530664 0.00001
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu) rs765096308 0.00001
NM_001164508.2(NEB):c.6806A>G (p.Gln2269Arg) rs768068829 0.00001
NM_001164508.2(NEB):c.6808-5T>C rs887525004 0.00001
NM_001164508.2(NEB):c.6851A>G (p.Tyr2284Cys) rs778637750 0.00001
NM_001164508.2(NEB):c.6986C>T (p.Pro2329Leu) rs201154794 0.00001
NM_001164508.2(NEB):c.7016A>G (p.Lys2339Arg) rs1452924362 0.00001
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667 0.00001
NM_001164508.2(NEB):c.7273A>T (p.Ser2425Cys) rs758881101 0.00001
NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser) rs776901478 0.00001
NM_001164508.2(NEB):c.7435C>T (p.Leu2479Phe) rs1426898110 0.00001
NM_001164508.2(NEB):c.7465A>G (p.Thr2489Ala) rs1321334284 0.00001
NM_001164508.2(NEB):c.7661G>A (p.Gly2554Asp) rs770338556 0.00001
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val) rs1334008702 0.00001
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys) rs377602828 0.00001
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr) rs779023599 0.00001
NM_001164508.2(NEB):c.7911G>C (p.Gln2637His) rs771035225 0.00001
NM_001164508.2(NEB):c.8066T>C (p.Val2689Ala) rs1241788939 0.00001
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888 0.00001
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His) rs753996512 0.00001
NM_001164508.2(NEB):c.8372A>C (p.Glu2791Ala) rs1414164577 0.00001
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met) rs757497327 0.00001
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu) rs765207403 0.00001
NM_001164508.2(NEB):c.8545A>T (p.Met2849Leu) rs764499750 0.00001
NM_001164508.2(NEB):c.8A>G (p.Asp3Gly) rs1245236784 0.00001
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452 0.00001
NM_001164508.2(NEB):c.901A>G (p.Arg301Gly) rs756396449 0.00001
NM_001164508.2(NEB):c.9064A>G (p.Ile3022Val) rs2098761523 0.00001
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys) rs1335899216 0.00001
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile) rs755604172 0.00001
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283 0.00001
NM_001164508.2(NEB):c.9419T>C (p.Ile3140Thr) rs774964206 0.00001
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138 0.00001
NM_001164508.2(NEB):c.9517G>A (p.Asp3173Asn) rs376224722 0.00001
NM_001164508.2(NEB):c.9568G>T (p.Asp3190Tyr) rs781238222 0.00001
NM_001164508.2(NEB):c.9619-3T>C rs756309002 0.00001
NM_001164508.2(NEB):c.9689T>C (p.Met3230Thr) rs760551196 0.00001
NM_001164508.2(NEB):c.9694G>T (p.Ala3232Ser) rs1329330602 0.00001
NM_001164508.2(NEB):c.9767A>G (p.Tyr3256Cys) rs1365723573 0.00001
NM_001164508.2(NEB):c.9884G>A (p.Arg3295Gln) rs201965465 0.00001
NM_001164508.2(NEB):c.9890T>C (p.Ile3297Thr) rs1323917769 0.00001
NM_001164508.2(NEB):c.9964T>A (p.Phe3322Ile) rs369385033 0.00001
NM_001164508.2(NEB):c.9986T>A (p.Phe3329Tyr) rs776107526 0.00001
NM_001256545.2(MEGF10):c.1035T>A (p.Phe345Leu) rs772920449 0.00001
NM_001256545.2(MEGF10):c.1042G>A (p.Glu348Lys) rs770250098 0.00001
NM_001256545.2(MEGF10):c.1051G>A (p.Glu351Lys) rs761988715 0.00001
NM_001256545.2(MEGF10):c.1057C>T (p.Arg353Cys) rs750674329 0.00001
NM_001256545.2(MEGF10):c.1081G>A (p.Gly361Ser) rs757939016 0.00001
NM_001256545.2(MEGF10):c.1108T>C (p.Cys370Arg) rs769248944 0.00001
NM_001256545.2(MEGF10):c.1216G>A (p.Gly406Arg) rs776828330 0.00001
NM_001256545.2(MEGF10):c.1322C>T (p.Thr441Ile) rs1160030961 0.00001
NM_001256545.2(MEGF10):c.1402G>T (p.Asp468Tyr) rs745877628 0.00001
NM_001256545.2(MEGF10):c.1465G>A (p.Gly489Ser) rs1561635953 0.00001
NM_001256545.2(MEGF10):c.1523A>G (p.Asn508Ser) rs184606767 0.00001
NM_001256545.2(MEGF10):c.1553C>G (p.Pro518Arg) rs1196146646 0.00001
NM_001256545.2(MEGF10):c.1561C>T (p.Arg521Cys) rs1381176973 0.00001
NM_001256545.2(MEGF10):c.1562G>A (p.Arg521His) rs762636054 0.00001
NM_001256545.2(MEGF10):c.1615G>A (p.Ala539Thr) rs777005994 0.00001
NM_001256545.2(MEGF10):c.1627G>A (p.Asp543Asn) rs927000363 0.00001
NM_001256545.2(MEGF10):c.1672C>T (p.Arg558Cys) rs374111304 0.00001
NM_001256545.2(MEGF10):c.1684G>A (p.Gly562Arg) rs768600085 0.00001
NM_001256545.2(MEGF10):c.1709G>A (p.Ser570Asn) rs368340848 0.00001
NM_001256545.2(MEGF10):c.1711G>A (p.Val571Met) rs149021647 0.00001
NM_001256545.2(MEGF10):c.1750C>A (p.Pro584Thr) rs148212621 0.00001
NM_001256545.2(MEGF10):c.1801G>A (p.Glu601Lys) rs778255998 0.00001
NM_001256545.2(MEGF10):c.1814G>C (p.Gly605Ala) rs138022464 0.00001
NM_001256545.2(MEGF10):c.1820G>A (p.Arg607Gln) rs759730720 0.00001
NM_001256545.2(MEGF10):c.1831T>C (p.Cys611Arg) rs1765456845 0.00001
NM_001256545.2(MEGF10):c.1833T>G (p.Cys611Trp) rs1765456920 0.00001
NM_001256545.2(MEGF10):c.1921A>T (p.Ile641Phe) rs745565012 0.00001
NM_001256545.2(MEGF10):c.1927G>A (p.Gly643Ser) rs767856393 0.00001
NM_001256545.2(MEGF10):c.1960G>A (p.Ala654Thr) rs754091432 0.00001
NM_001256545.2(MEGF10):c.1982C>T (p.Pro661Leu) rs1765519745 0.00001
NM_001256545.2(MEGF10):c.2021C>T (p.Thr674Ile) rs139700339 0.00001
NM_001256545.2(MEGF10):c.2027C>T (p.Thr676Ile) rs749879382 0.00001
NM_001256545.2(MEGF10):c.2051T>C (p.Ile684Thr) rs778154840 0.00001
NM_001256545.2(MEGF10):c.209C>T (p.Thr70Met) rs766379097 0.00001
NM_001256545.2(MEGF10):c.2110C>T (p.Pro704Ser) rs1765635260 0.00001
NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp) rs387907074 0.00001
NM_001256545.2(MEGF10):c.2155C>T (p.His719Tyr) rs1192439798 0.00001
NM_001256545.2(MEGF10):c.2174G>A (p.Ser725Asn) rs1457173499 0.00001
NM_001256545.2(MEGF10):c.2221T>C (p.Tyr741His) rs907242213 0.00001
NM_001256545.2(MEGF10):c.2290G>A (p.Gly764Arg) rs769798459 0.00001
NM_001256545.2(MEGF10):c.229C>T (p.Arg77Trp) rs752303954 0.00001
NM_001256545.2(MEGF10):c.2362+2dup rs762560221 0.00001
NM_001256545.2(MEGF10):c.2497G>A (p.Val833Ile) rs1765908207 0.00001
NM_001256545.2(MEGF10):c.2558C>T (p.Ser853Phe) rs952649292 0.00001
NM_001256545.2(MEGF10):c.2629A>G (p.Ile877Val) rs762333863 0.00001
NM_001256545.2(MEGF10):c.2686A>G (p.Thr896Ala) rs1318829482 0.00001
NM_001256545.2(MEGF10):c.2758G>A (p.Ala920Thr) rs756451956 0.00001
NM_001256545.2(MEGF10):c.2789A>G (p.Tyr930Cys) rs1765997329 0.00001
NM_001256545.2(MEGF10):c.2822A>G (p.His941Arg) rs761698194 0.00001
NM_001256545.2(MEGF10):c.2831A>G (p.Asn944Ser) rs767447623 0.00001
NM_001256545.2(MEGF10):c.2882A>G (p.Asn961Ser) rs902313197 0.00001
NM_001256545.2(MEGF10):c.2920G>A (p.Gly974Arg) rs768701922 0.00001
NM_001256545.2(MEGF10):c.2930C>A (p.Thr977Asn) rs1209092369 0.00001
NM_001256545.2(MEGF10):c.2972A>G (p.Asn991Ser) rs756511139 0.00001
NM_001256545.2(MEGF10):c.2989G>A (p.Gly997Arg) rs1766283187 0.00001
NM_001256545.2(MEGF10):c.3007A>G (p.Met1003Val) rs746772649 0.00001
NM_001256545.2(MEGF10):c.3086C>T (p.Pro1029Leu) rs139251235 0.00001
NM_001256545.2(MEGF10):c.3089A>G (p.Tyr1030Cys) rs1433266858 0.00001
NM_001256545.2(MEGF10):c.3094A>G (p.Thr1032Ala) rs747789433 0.00001
NM_001256545.2(MEGF10):c.320C>A (p.Pro107His) rs745615372 0.00001
NM_001256545.2(MEGF10):c.3229G>A (p.Val1077Ile) rs376652467 0.00001
NM_001256545.2(MEGF10):c.322C>T (p.His108Tyr) rs769476956 0.00001
NM_001256545.2(MEGF10):c.3278G>A (p.Arg1093His) rs187800437 0.00001
NM_001256545.2(MEGF10):c.3353A>G (p.Asp1118Gly) rs776755147 0.00001
NM_001256545.2(MEGF10):c.3396C>G (p.Ser1132Arg) rs762840278 0.00001
NM_001256545.2(MEGF10):c.3409A>G (p.Ser1137Gly) rs764044446 0.00001
NM_001256545.2(MEGF10):c.3421T>A (p.Ter1141Arg) rs61738064 0.00001
NM_001256545.2(MEGF10):c.407C>T (p.Ser136Phe) rs1476265236 0.00001
NM_001256545.2(MEGF10):c.422G>A (p.Gly141Asp) rs756329251 0.00001
NM_001256545.2(MEGF10):c.446C>T (p.Thr149Ile) rs763157072 0.00001
NM_001256545.2(MEGF10):c.449G>A (p.Ser150Asn) rs762474220 0.00001
NM_001256545.2(MEGF10):c.511G>A (p.Ala171Thr) rs752601027 0.00001
NM_001256545.2(MEGF10):c.520C>T (p.Arg174Trp) rs756799749 0.00001
NM_001256545.2(MEGF10):c.529C>T (p.Arg177Cys) rs748641801 0.00001
NM_001256545.2(MEGF10):c.541C>T (p.Arg181Cys) rs764996899 0.00001
NM_001256545.2(MEGF10):c.553G>A (p.Gly185Ser) rs1479724522 0.00001
NM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr) rs748919606 0.00001
NM_001256545.2(MEGF10):c.682G>C (p.Gly228Arg) rs1005573486 0.00001
NM_001256545.2(MEGF10):c.726T>G (p.Asn242Lys) rs752309579 0.00001
NM_001256545.2(MEGF10):c.808G>A (p.Glu270Lys) rs201393832 0.00001
NM_001256545.2(MEGF10):c.833C>T (p.Ser278Phe) rs1301558900 0.00001
NM_001256545.2(MEGF10):c.899C>G (p.Pro300Arg) rs760972764 0.00001
NM_001256545.2(MEGF10):c.914A>T (p.Glu305Val) rs902150958 0.00001
NM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu) rs199702225 0.00001
NM_001256545.2(MEGF10):c.985G>A (p.Gly329Arg) rs148583278 0.00001
NM_001267550.2(TTN):c.100204A>G (p.Thr33402Ala) rs777018654 0.00001
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp) rs370253076 0.00001
NM_001267550.2(TTN):c.100745C>G (p.Thr33582Ser) rs1289282264 0.00001
NM_001267550.2(TTN):c.100759G>A (p.Val33587Met) rs1401200720 0.00001
NM_001267550.2(TTN):c.100841G>A (p.Ser33614Asn) rs879230745 0.00001
NM_001267550.2(TTN):c.100903C>T (p.Leu33635Phe) rs879048474 0.00001
NM_001267550.2(TTN):c.100966C>T (p.Pro33656Ser) rs559295181 0.00001
NM_001267550.2(TTN):c.10099C>T (p.Arg3367Trp) rs762791706 0.00001
NM_001267550.2(TTN):c.101012C>A (p.Ala33671Asp) rs1575296563 0.00001
NM_001267550.2(TTN):c.101144C>T (p.Ser33715Phe) rs755892166 0.00001
NM_001267550.2(TTN):c.101165C>T (p.Thr33722Ile) rs1372744849 0.00001
NM_001267550.2(TTN):c.101284G>A (p.Val33762Ile) rs1385559568 0.00001
NM_001267550.2(TTN):c.101326C>G (p.Pro33776Ala) rs746665837 0.00001
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys) rs1484936368 0.00001
NM_001267550.2(TTN):c.101386G>A (p.Val33796Ile) rs1160027812 0.00001
NM_001267550.2(TTN):c.101387T>C (p.Val33796Ala) rs1454018253 0.00001
NM_001267550.2(TTN):c.101429C>G (p.Ser33810Cys) rs1467149853 0.00001
NM_001267550.2(TTN):c.101495T>C (p.Ile33832Thr) rs1476820246 0.00001
NM_001267550.2(TTN):c.101503C>T (p.Arg33835Cys) rs781516399 0.00001
NM_001267550.2(TTN):c.101519C>T (p.Ser33840Phe) rs1202069310 0.00001
NM_001267550.2(TTN):c.101529G>C (p.Lys33843Asn) rs377406091 0.00001
NM_001267550.2(TTN):c.101551A>C (p.Lys33851Gln) rs1394900631 0.00001
NM_001267550.2(TTN):c.101557A>G (p.Lys33853Glu) rs727505163 0.00001
NM_001267550.2(TTN):c.101572G>C (p.Val33858Leu) rs1060500584 0.00001
NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp) rs1172459056 0.00001
NM_001267550.2(TTN):c.101606T>C (p.Ile33869Thr) rs1253957228 0.00001
NM_001267550.2(TTN):c.101655G>T (p.Met33885Ile) rs777177959 0.00001
NM_001267550.2(TTN):c.101679G>C (p.Glu33893Asp) rs764487443 0.00001
NM_001267550.2(TTN):c.101805T>G (p.Ile33935Met) rs76106451 0.00001
NM_001267550.2(TTN):c.101846C>T (p.Thr33949Ile) rs1559040993 0.00001
NM_001267550.2(TTN):c.101866A>C (p.Lys33956Gln) rs1690684721 0.00001
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys) rs886055224 0.00001
NM_001267550.2(TTN):c.101908G>A (p.Asp33970Asn) rs749832500 0.00001
NM_001267550.2(TTN):c.102011T>A (p.Leu34004Gln) rs727504897 0.00001
NM_001267550.2(TTN):c.102027G>T (p.Leu34009Phe) rs760604476 0.00001
NM_001267550.2(TTN):c.102040C>A (p.Pro34014Thr) rs775271604 0.00001
NM_001267550.2(TTN):c.102095A>G (p.Tyr34032Cys) rs1160872040 0.00001
NM_001267550.2(TTN):c.102116T>C (p.Phe34039Ser) rs1553496582 0.00001
NM_001267550.2(TTN):c.102139A>G (p.Met34047Val) rs755244797 0.00001
NM_001267550.2(TTN):c.102182G>A (p.Arg34061His) rs774174825 0.00001
NM_001267550.2(TTN):c.102232G>C (p.Glu34078Gln) rs1454101167 0.00001
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys) rs765435004 0.00001
NM_001267550.2(TTN):c.102325G>A (p.Ala34109Thr) rs786205293 0.00001
NM_001267550.2(TTN):c.102329G>A (p.Arg34110Gln) rs565347600 0.00001
NM_001267550.2(TTN):c.102368T>G (p.Val34123Gly) rs1060500587 0.00001
NM_001267550.2(TTN):c.102377C>T (p.Ala34126Val) rs1280930563 0.00001
NM_001267550.2(TTN):c.102397A>C (p.Ile34133Leu) rs1328046092 0.00001
NM_001267550.2(TTN):c.102445G>A (p.Glu34149Lys) rs780580255 0.00001
NM_001267550.2(TTN):c.102446A>G (p.Glu34149Gly) rs1165341799 0.00001
NM_001267550.2(TTN):c.102518G>A (p.Gly34173Asp) rs752184554 0.00001
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys) rs577667352 0.00001
NM_001267550.2(TTN):c.102586G>A (p.Val34196Ile) rs1185169765 0.00001
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser) rs375332499 0.00001
NM_001267550.2(TTN):c.102697T>C (p.Tyr34233His) rs1460715226 0.00001
NM_001267550.2(TTN):c.102698A>G (p.Tyr34233Cys) rs1461306828 0.00001
NM_001267550.2(TTN):c.102713G>A (p.Arg34238His) rs767961553 0.00001
NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn) rs985229219 0.00001
NM_001267550.2(TTN):c.102814G>C (p.Gly34272Arg) rs794729562 0.00001
NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr) rs779369864 0.00001
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His) rs376029089 0.00001
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys) rs768930172 0.00001
NM_001267550.2(TTN):c.102940G>C (p.Gly34314Arg) rs772007737 0.00001
NM_001267550.2(TTN):c.102976G>A (p.Asp34326Asn) rs1227502652 0.00001
NM_001267550.2(TTN):c.102985G>A (p.Ala34329Thr) rs749925915 0.00001
NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys) rs765213170 0.00001
NM_001267550.2(TTN):c.103087C>T (p.Pro34363Ser) rs771573240 0.00001
NM_001267550.2(TTN):c.103088C>T (p.Pro34363Leu) rs1457631231 0.00001
NM_001267550.2(TTN):c.103121G>T (p.Cys34374Phe) rs368493317 0.00001
NM_001267550.2(TTN):c.103163G>A (p.Gly34388Asp) rs760436734 0.00001
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro) rs947426325 0.00001
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg) rs371753532 0.00001
NM_001267550.2(TTN):c.103244G>A (p.Gly34415Asp) rs919270464 0.00001
NM_001267550.2(TTN):c.103267A>G (p.Ile34423Val) rs777746298 0.00001
NM_001267550.2(TTN):c.103288G>T (p.Asp34430Tyr) rs751794473 0.00001
NM_001267550.2(TTN):c.10328C>T (p.Thr3443Ile) rs746052197 0.00001
NM_001267550.2(TTN):c.103334C>T (p.Thr34445Ile) rs778587344 0.00001
NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn) rs878913368 0.00001
NM_001267550.2(TTN):c.103459C>A (p.Leu34487Ile) rs779924820 0.00001
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile) rs769311670 0.00001
NM_001267550.2(TTN):c.103583A>G (p.Glu34528Gly) rs745616639 0.00001
NM_001267550.2(TTN):c.103586A>G (p.Glu34529Gly) rs1184132617 0.00001
NM_001267550.2(TTN):c.103633C>A (p.Pro34545Thr) rs533640993 0.00001
NM_001267550.2(TTN):c.103637G>A (p.Arg34546His) rs973169397 0.00001
NM_001267550.2(TTN):c.103661A>G (p.Glu34554Gly) rs1202031815 0.00001
NM_001267550.2(TTN):c.103672C>T (p.Arg34558Cys) rs745743825 0.00001
NM_001267550.2(TTN):c.103680G>C (p.Lys34560Asn) rs778525620 0.00001
NM_001267550.2(TTN):c.103687G>A (p.Val34563Met) rs369429739 0.00001
NM_001267550.2(TTN):c.103693A>G (p.Met34565Val) rs1575256217 0.00001
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg) rs727505009 0.00001
NM_001267550.2(TTN):c.103744G>C (p.Gly34582Arg) rs1458830929 0.00001
NM_001267550.2(TTN):c.103762G>T (p.Val34588Leu) rs368889232 0.00001
NM_001267550.2(TTN):c.103780C>T (p.Arg34594Cys) rs879240376 0.00001
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His) rs762235688 0.00001
NM_001267550.2(TTN):c.103835C>G (p.Thr34612Arg) rs1433454372 0.00001
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn) rs1430662349 0.00001
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val) rs79666048 0.00001
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr) rs886042330 0.00001
NM_001267550.2(TTN):c.104044C>T (p.Arg34682Cys) rs1290406597 0.00001
NM_001267550.2(TTN):c.104045G>A (p.Arg34682His) rs190398670 0.00001
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln) rs775049806 0.00001
NM_001267550.2(TTN):c.104064G>C (p.Glu34688Asp) rs1407460166 0.00001
NM_001267550.2(TTN):c.104089A>G (p.Ser34697Gly) rs1177374613 0.00001
NM_001267550.2(TTN):c.104093G>A (p.Arg34698Gln) rs757940030 0.00001
NM_001267550.2(TTN):c.104099C>T (p.Pro34700Leu) rs757181586 0.00001
NM_001267550.2(TTN):c.104105A>G (p.His34702Arg) rs1190780620 0.00001
NM_001267550.2(TTN):c.104132C>G (p.Ser34711Cys) rs767826322 0.00001
NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys) rs773467994 0.00001
NM_001267550.2(TTN):c.104165C>T (p.Thr34722Ile) rs770151999 0.00001
NM_001267550.2(TTN):c.104192A>G (p.Tyr34731Cys) rs397517789 0.00001
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp) rs753769495 0.00001
NM_001267550.2(TTN):c.104195A>G (p.His34732Arg) rs1250361204 0.00001
NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr) rs1344770836 0.00001
NM_001267550.2(TTN):c.104272C>T (p.Pro34758Ser) rs1296833957 0.00001
NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln) rs200773170 0.00001
NM_001267550.2(TTN):c.104308G>A (p.Asp34770Asn) rs1689483910 0.00001
NM_001267550.2(TTN):c.104368C>T (p.Leu34790Phe) rs551824963 0.00001
NM_001267550.2(TTN):c.104435T>C (p.Ile34812Thr) rs1427010837 0.00001
NM_001267550.2(TTN):c.104444T>C (p.Ile34815Thr) rs908034780 0.00001
NM_001267550.2(TTN):c.104458G>A (p.Glu34820Lys) rs766062367 0.00001
NM_001267550.2(TTN):c.104470C>T (p.His34824Tyr) rs1689413849 0.00001
NM_001267550.2(TTN):c.104474C>A (p.Ala34825Asp) rs766157074 0.00001
NM_001267550.2(TTN):c.104505A>T (p.Arg34835Ser) rs1464816261 0.00001
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr) rs886055222 0.00001
NM_001267550.2(TTN):c.104573T>A (p.Ile34858Asn) rs374668326 0.00001
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His) rs777774818 0.00001
NM_001267550.2(TTN):c.104627C>T (p.Ser34876Leu) rs1170097065 0.00001
NM_001267550.2(TTN):c.104741T>A (p.Met34914Lys) rs373257372 0.00001
NM_001267550.2(TTN):c.104745A>C (p.Lys34915Asn) rs1390713685 0.00001
NM_001267550.2(TTN):c.104761C>G (p.Gln34921Glu) rs369190893 0.00001
NM_001267550.2(TTN):c.104821G>A (p.Ala34941Thr) rs1484852266 0.00001
NM_001267550.2(TTN):c.104849C>T (p.Ser34950Leu) rs762789368 0.00001
NM_001267550.2(TTN):c.104867G>A (p.Gly34956Asp) rs145748940 0.00001
NM_001267550.2(TTN):c.104878C>T (p.Arg34960Cys) rs772702110 0.00001
NM_001267550.2(TTN):c.104905C>A (p.Pro34969Thr) rs1256480602 0.00001
NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser) rs780028847 0.00001
NM_001267550.2(TTN):c.104952A>C (p.Glu34984Asp) rs1434654451 0.00001
NM_001267550.2(TTN):c.104981G>A (p.Ser34994Asn) rs774081159 0.00001
NM_001267550.2(TTN):c.104989C>G (p.Leu34997Val) rs771364302 0.00001
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His) rs779484675 0.00001
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala) rs368779151 0.00001
NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys) rs727504977 0.00001
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met) rs56001826 0.00001
NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp) rs763437247 0.00001
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val) rs1001393566 0.00001
NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr) rs376175862 0.00001
NM_001267550.2(TTN):c.1051G>A (p.Val351Met) rs772889673 0.00001
NM_001267550.2(TTN):c.105219G>A (p.Met35073Ile) rs1689052563 0.00001
NM_001267550.2(TTN):c.105311T>C (p.Met35104Thr) rs373073929 0.00001
NM_001267550.2(TTN):c.105370A>C (p.Lys35124Gln) rs760487831 0.00001
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val) rs779464128 0.00001
NM_001267550.2(TTN):c.105407G>A (p.Arg35136Gln) rs554213990 0.00001
NM_001267550.2(TTN):c.105430G>A (p.Glu35144Lys) rs568472002 0.00001
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr) rs554953169 0.00001
NM_001267550.2(TTN):c.105457G>A (p.Asp35153Asn) rs778907927 0.00001
NM_001267550.2(TTN):c.105485G>C (p.Trp35162Ser) rs886042795 0.00001
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His) rs768358201 0.00001
NM_001267550.2(TTN):c.105493A>G (p.Lys35165Glu) rs879156291 0.00001
NM_001267550.2(TTN):c.105571G>A (p.Val35191Ile) rs1290162863 0.00001
NM_001267550.2(TTN):c.105578C>A (p.Ala35193Asp) rs1380574216 0.00001
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met) rs397517797 0.00001
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro) rs769195414 0.00001
NM_001267550.2(TTN):c.105667G>A (p.Val35223Ile) rs1688851195 0.00001
NM_001267550.2(TTN):c.105673G>A (p.Glu35225Lys) rs1688847847 0.00001
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp) rs752729073 0.00001
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys) rs1010179080 0.00001
NM_001267550.2(TTN):c.105825G>C (p.Glu35275Asp) rs377219772 0.00001
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His) rs758094020 0.00001
NM_001267550.2(TTN):c.105839T>A (p.Leu35280His) rs1451951231 0.00001
NM_001267550.2(TTN):c.105863T>C (p.Ile35288Thr) rs764713884 0.00001
NM_001267550.2(TTN):c.105873C>A (p.Phe35291Leu) rs1183014419 0.00001
NM_001267550.2(TTN):c.105880G>A (p.Ala35294Thr) rs879080442 0.00001
NM_001267550.2(TTN):c.10589A>T (p.Tyr3530Phe) rs755931621 0.00001
NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter) rs767420661 0.00001
NM_001267550.2(TTN):c.106055C>G (p.Ser35352Cys) rs746512551 0.00001
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys) rs778126842 0.00001
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) rs768296130 0.00001
NM_001267550.2(TTN):c.106180A>G (p.Lys35394Glu) rs745753316 0.00001
NM_001267550.2(TTN):c.106210G>A (p.Val35404Ile) rs752846394 0.00001
NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser) rs567191587 0.00001
NM_001267550.2(TTN):c.106286C>T (p.Thr35429Ile) rs1241466221 0.00001
NM_001267550.2(TTN):c.106312A>G (p.Lys35438Glu) rs755067124 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.106374+3A>G rs976515961 0.00001
NM_001267550.2(TTN):c.106376C>T (p.Ala35459Val) rs879170800 0.00001
NM_001267550.2(TTN):c.106379T>C (p.Ile35460Thr) rs1398739704 0.00001
NM_001267550.2(TTN):c.106387G>A (p.Gly35463Arg) rs1474079403 0.00001
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His) rs952475900 0.00001
NM_001267550.2(TTN):c.106549G>A (p.Ala35517Thr) rs772279090 0.00001
NM_001267550.2(TTN):c.106556A>G (p.Lys35519Arg) rs1422047351 0.00001
NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn) rs779206858 0.00001
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg) rs375572802 0.00001
NM_001267550.2(TTN):c.106771G>A (p.Glu35591Lys) rs935554305 0.00001
NM_001267550.2(TTN):c.106831G>C (p.Ala35611Pro) rs1304855425 0.00001
NM_001267550.2(TTN):c.106853T>C (p.Ile35618Thr) rs1575194805 0.00001
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met) rs751243461 0.00001
NM_001267550.2(TTN):c.106914G>C (p.Trp35638Cys) rs758497512 0.00001
NM_001267550.2(TTN):c.106994A>G (p.Lys35665Arg) rs746841189 0.00001
NM_001267550.2(TTN):c.107081T>C (p.Leu35694Pro) rs761325938 0.00001
NM_001267550.2(TTN):c.107167T>G (p.Cys35723Gly) rs1687597849 0.00001
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys) rs374992991 0.00001
NM_001267550.2(TTN):c.107218C>G (p.Leu35740Val) rs1176056991 0.00001
NM_001267550.2(TTN):c.107270A>G (p.Tyr35757Cys) rs932225386 0.00001
NM_001267550.2(TTN):c.107302G>A (p.Asp35768Asn) rs794729571 0.00001
NM_001267550.2(TTN):c.107320A>G (p.Ile35774Val) rs774401824 0.00001
NM_001267550.2(TTN):c.107446T>C (p.Phe35816Leu) rs1687028450 0.00001
NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr) rs760758096 0.00001
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys) rs372841288 0.00001
NM_001267550.2(TTN):c.107620A>C (p.Ile35874Leu) rs1210579565 0.00001
NM_001267550.2(TTN):c.107627A>G (p.Asn35876Ser) rs750430860 0.00001
NM_001267550.2(TTN):c.107630T>C (p.Met35877Thr) rs375824821 0.00001
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg) rs727504465 0.00001
NM_001267550.2(TTN):c.107661G>A (p.Met35887Ile) rs764323200 0.00001
NM_001267550.2(TTN):c.107665A>C (p.Lys35889Gln) rs760849988 0.00001
NM_001267550.2(TTN):c.107692A>G (p.Lys35898Glu) rs1028436080 0.00001
NM_001267550.2(TTN):c.107721C>A (p.Ser35907Arg) rs977991321 0.00001
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr) rs769141222 0.00001
NM_001267550.2(TTN):c.107774C>T (p.Thr35925Ile) rs755111765 0.00001
NM_001267550.2(TTN):c.107798G>A (p.Gly35933Asp) rs1686762598 0.00001
NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg) rs794729572 0.00001
NM_001267550.2(TTN):c.107864C>A (p.Thr35955Asn) rs370267738 0.00001
NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu) rs780316966 0.00001
NM_001267550.2(TTN):c.11461A>G (p.Ile3821Val) rs867402675 0.00001
NM_001267550.2(TTN):c.1165A>G (p.Ser389Gly) rs1255499093 0.00001
NM_001267550.2(TTN):c.11678T>C (p.Met3893Thr) rs1553941782 0.00001
NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn) rs769466475 0.00001
NM_001267550.2(TTN):c.11687A>G (p.Asn3896Ser) rs1207560844 0.00001
NM_001267550.2(TTN):c.11706A>G (p.Ile3902Met) rs368845723 0.00001
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs) rs1553940935 0.00001
NM_001267550.2(TTN):c.12052G>A (p.Gly4018Ser) rs759214389 0.00001
NM_001267550.2(TTN):c.12113C>A (p.Thr4038Asn) rs758968807 0.00001
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys) rs377114166 0.00001
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg) rs72648920 0.00001
NM_001267550.2(TTN):c.12470C>T (p.Ser4157Phe) rs771706692 0.00001
NM_001267550.2(TTN):c.12484T>C (p.Ser4162Pro) rs548726318 0.00001
NM_001267550.2(TTN):c.12572T>C (p.Ile4191Thr) rs371669309 0.00001
NM_001267550.2(TTN):c.12830G>A (p.Ser4277Asn) rs878854286 0.00001
NM_001267550.2(TTN):c.1304T>C (p.Met435Thr) rs770187975 0.00001
NM_001267550.2(TTN):c.13219G>A (p.Val4407Met) rs539154603 0.00001
NM_001267550.2(TTN):c.13488G>T (p.Gln4496His) rs1383626434 0.00001
NM_001267550.2(TTN):c.13510C>A (p.Gln4504Lys) rs761901186 0.00001
NM_001267550.2(TTN):c.13555A>G (p.Ile4519Val) rs759140842 0.00001
NM_001267550.2(TTN):c.13817C>G (p.Pro4606Arg) rs762079270 0.00001
NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe) rs794729602 0.00001
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly) rs781348816 0.00001
NM_001267550.2(TTN):c.14092+5G>A rs757575983 0.00001
NM_001267550.2(TTN):c.14095G>T (p.Ala4699Ser) rs1172448062 0.00001
NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser) rs727503705 0.00001
NM_001267550.2(TTN):c.14464C>T (p.Pro4822Ser) rs762428750 0.00001
NM_001267550.2(TTN):c.1489G>T (p.Glu497Ter) rs1185562018 0.00001
NM_001267550.2(TTN):c.14983C>T (p.Pro4995Ser) rs776578141 0.00001
NM_001267550.2(TTN):c.15040A>T (p.Thr5014Ser) rs143093473 0.00001
NM_001267550.2(TTN):c.15346C>T (p.Arg5116Ter) rs1057518470 0.00001
NM_001267550.2(TTN):c.1537-2A>G rs749182164 0.00001
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) rs372277017 0.00001
NM_001267550.2(TTN):c.157G>A (p.Gly53Ser) rs150902810 0.00001
NM_001267550.2(TTN):c.16058G>A (p.Arg5353Gln) rs751653047 0.00001
NM_001267550.2(TTN):c.16090C>T (p.Arg5364Cys) rs886044310 0.00001
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met) rs372176136 0.00001
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) rs535319438 0.00001
NM_001267550.2(TTN):c.16750A>G (p.Ile5584Val) rs368116422 0.00001
NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys) rs763708860 0.00001
NM_001267550.2(TTN):c.17032C>T (p.Arg5678Ter) rs1199616569 0.00001
NM_001267550.2(TTN):c.17047T>G (p.Tyr5683Asp) rs371062603 0.00001
NM_001267550.2(TTN):c.17182+5G>T rs2080545375 0.00001
NM_001267550.2(TTN):c.17189C>T (p.Pro5730Leu) rs779187099 0.00001
NM_001267550.2(TTN):c.17216C>T (p.Thr5739Ile) rs751087281 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met) rs770310501 0.00001
NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn) rs752660722 0.00001
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met) rs928844023 0.00001
NM_001267550.2(TTN):c.17331A>T (p.Arg5777Ser) rs367942154 0.00001
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr) rs1225094303 0.00001
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr) rs763665430 0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) rs775293848 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.1800+4A>G rs998572909 0.00001
NM_001267550.2(TTN):c.18098C>T (p.Ala6033Val) rs771457862 0.00001
NM_001267550.2(TTN):c.18445A>G (p.Ile6149Val) rs368897297 0.00001
NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val) rs758380777 0.00001
NM_001267550.2(TTN):c.18589+4C>T rs1449021840 0.00001
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp) rs750368911 0.00001
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr) rs1060500581 0.00001
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met) rs537966944 0.00001
NM_001267550.2(TTN):c.1925T>C (p.Ile642Thr) rs772036467 0.00001
NM_001267550.2(TTN):c.19426G>A (p.Asp6476Asn) rs1399156064 0.00001
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu) rs373750655 0.00001
NM_001267550.2(TTN):c.19931A>G (p.Tyr6644Cys) rs375417679 0.00001
NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser) rs751222632 0.00001
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe) rs776748717 0.00001
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr) rs779405672 0.00001
NM_001267550.2(TTN):c.20096T>C (p.Val6699Ala) rs907862282 0.00001
NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter) rs2079499416 0.00001
NM_001267550.2(TTN):c.20396G>A (p.Arg6799Gln) rs780069933 0.00001
NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro) rs767944090 0.00001
NM_001267550.2(TTN):c.20605G>A (p.Glu6869Lys) rs746830456 0.00001
NM_001267550.2(TTN):c.20692A>G (p.Ser6898Gly) rs878854291 0.00001
NM_001267550.2(TTN):c.20696A>G (p.Glu6899Gly) rs777803266 0.00001
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu) rs375262781 0.00001
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met) rs371824963 0.00001
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met) rs765257439 0.00001
NM_001267550.2(TTN):c.21028G>A (p.Val7010Ile) rs564660466 0.00001
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter) rs576359448 0.00001
NM_001267550.2(TTN):c.2113G>C (p.Val705Leu) rs1320087550 0.00001
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln) rs148072021 0.00001
NM_001267550.2(TTN):c.21497T>G (p.Phe7166Cys) rs781740874 0.00001
NM_001267550.2(TTN):c.21574G>A (p.Ala7192Thr) rs1212601280 0.00001
NM_001267550.2(TTN):c.21667C>T (p.Arg7223Cys) rs1156609638 0.00001
NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg) rs878854292 0.00001
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His) rs754432983 0.00001
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg) rs876658047 0.00001
NM_001267550.2(TTN):c.22241-7C>G rs749798825 0.00001
NM_001267550.2(TTN):c.22255C>T (p.Pro7419Ser) rs1486377872 0.00001
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu) rs139957325 0.00001
NM_001267550.2(TTN):c.22529-7C>A rs769076842 0.00001
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys) rs200677631 0.00001
NM_001267550.2(TTN):c.22687A>T (p.Ile7563Phe) rs1321824189 0.00001
NM_001267550.2(TTN):c.23005A>G (p.Asn7669Asp) rs1060500486 0.00001
NM_001267550.2(TTN):c.23215C>T (p.Arg7739Ter) rs372250586 0.00001
NM_001267550.2(TTN):c.23386C>T (p.Arg7796Ter) rs748111134 0.00001
NM_001267550.2(TTN):c.2354T>C (p.Met785Thr) rs1060500532 0.00001
NM_001267550.2(TTN):c.23567G>A (p.Gly7856Glu) rs919783694 0.00001
NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr) rs138076523 0.00001
NM_001267550.2(TTN):c.2370+3G>A rs377577258 0.00001
NM_001267550.2(TTN):c.23725G>C (p.Glu7909Gln) rs1161435142 0.00001
NM_001267550.2(TTN):c.23895C>A (p.Asn7965Lys) rs1363515138 0.00001
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln) rs757042397 0.00001
NM_001267550.2(TTN):c.24038C>T (p.Pro8013Leu) rs773761640 0.00001
NM_001267550.2(TTN):c.24469G>A (p.Gly8157Ser) rs753025964 0.00001
NM_001267550.2(TTN):c.24493C>A (p.Leu8165Ile) rs1060500582 0.00001
NM_001267550.2(TTN):c.24520G>A (p.Val8174Met) rs727504961 0.00001
NM_001267550.2(TTN):c.24546T>A (p.Val8182=) rs397517508 0.00001
NM_001267550.2(TTN):c.24563T>C (p.Ile8188Thr) rs1184649078 0.00001
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys) rs377762626 0.00001
NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln) rs759985618 0.00001
NM_001267550.2(TTN):c.25036G>A (p.Ala8346Thr) rs755302381 0.00001
NM_001267550.2(TTN):c.25144C>T (p.Arg8382Cys) rs776519143 0.00001
NM_001267550.2(TTN):c.25215T>A (p.Asn8405Lys) rs371923232 0.00001
NM_001267550.2(TTN):c.25383del (p.Lys8461fs) rs1452206214 0.00001
NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys) rs369517119 0.00001
NM_001267550.2(TTN):c.25639+2T>G rs769452066 0.00001
NM_001267550.2(TTN):c.25783A>T (p.Lys8595Ter) rs887577241 0.00001
NM_001267550.2(TTN):c.26030A>G (p.Tyr8677Cys) rs778578388 0.00001
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn) rs377074955 0.00001
NM_001267550.2(TTN):c.26200+5G>A rs727503645 0.00001
NM_001267550.2(TTN):c.26275A>G (p.Ile8759Val) rs1317485542 0.00001
NM_001267550.2(TTN):c.26444C>G (p.Ala8815Gly) rs1168744166 0.00001
NM_001267550.2(TTN):c.26482+1G>C rs1440418037 0.00001
NM_001267550.2(TTN):c.26830G>A (p.Val8944Ile) rs72648993 0.00001
NM_001267550.2(TTN):c.26882A>G (p.His8961Arg) rs766862084 0.00001
NM_001267550.2(TTN):c.26989A>G (p.Thr8997Ala) rs953177976 0.00001
NM_001267550.2(TTN):c.27158T>C (p.Phe9053Ser) rs761745332 0.00001
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys) rs369529493 0.00001
NM_001267550.2(TTN):c.27329-1G>T rs1378646156 0.00001
NM_001267550.2(TTN):c.27425C>T (p.Ser9142Leu) rs781609380 0.00001
NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe) rs186857044 0.00001
NM_001267550.2(TTN):c.2745C>G (p.Arg915=) rs773568773 0.00001
NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys) rs769097909 0.00001
NM_001267550.2(TTN):c.27667T>C (p.Ser9223Pro) rs201253546 0.00001
NM_001267550.2(TTN):c.27746C>T (p.Thr9249Met) rs745792278 0.00001
NM_001267550.2(TTN):c.27872T>C (p.Phe9291Ser) rs754982924 0.00001
NM_001267550.2(TTN):c.27886+5T>C rs876658050 0.00001
NM_001267550.2(TTN):c.27896T>G (p.Leu9299Arg) rs879046044 0.00001
NM_001267550.2(TTN):c.28207C>G (p.Leu9403Val) rs752742472 0.00001
NM_001267550.2(TTN):c.28308A>C (p.Glu9436Asp) rs906433178 0.00001
NM_001267550.2(TTN):c.2836G>A (p.Val946Ile) rs752246051 0.00001
NM_001267550.2(TTN):c.2841G>A (p.Ser947=) rs774074192 0.00001
NM_001267550.2(TTN):c.28424T>G (p.Val9475Gly) rs1363580617 0.00001
NM_001267550.2(TTN):c.28462+3A>G rs1402065855 0.00001
NM_001267550.2(TTN):c.28495C>T (p.Leu9499Phe) rs1060500573 0.00001
NM_001267550.2(TTN):c.28592A>C (p.Asn9531Thr) rs537464608 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.28880G>A (p.Gly9627Asp) rs878908638 0.00001
NM_001267550.2(TTN):c.29134+5G>A rs2075957069 0.00001
NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser) rs368073588 0.00001
NM_001267550.2(TTN):c.29333G>A (p.Gly9778Asp) rs775854531 0.00001
NM_001267550.2(TTN):c.29381_29382del (p.Gln9794fs) rs1290002563 0.00001
NM_001267550.2(TTN):c.295+5G>A rs56310717 0.00001
NM_001267550.2(TTN):c.29502A>G (p.Glu9834=) rs759468315 0.00001
NM_001267550.2(TTN):c.29564A>G (p.Glu9855Gly) rs794727011 0.00001
NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu) rs376548316 0.00001
NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr) rs373651676 0.00001
NM_001267550.2(TTN):c.29777A>C (p.Asn9926Thr) rs377147236 0.00001
NM_001267550.2(TTN):c.29864G>A (p.Arg9955Gln) rs182332374 0.00001
NM_001267550.2(TTN):c.30044C>T (p.Pro10015Leu) rs1178694077 0.00001
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln) rs370072382 0.00001
NM_001267550.2(TTN):c.30223+5G>A rs368199297 0.00001
NM_001267550.2(TTN):c.30511+1G>C rs879082842 0.00001
NM_001267550.2(TTN):c.30605C>T (p.Pro10202Leu) rs769528182 0.00001
NM_001267550.2(TTN):c.30614T>C (p.Val10205Ala) rs1060500449 0.00001
NM_001267550.2(TTN):c.31295A>G (p.Lys10432Arg) rs879134517 0.00001
NM_001267550.2(TTN):c.31426+1G>C rs6749719 0.00001
NM_001267550.2(TTN):c.31453G>T (p.Val10485Phe) rs762572524 0.00001
NM_001267550.2(TTN):c.31787T>C (p.Val10596Ala) rs746313065 0.00001
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val) rs759873829 0.00001
NM_001267550.2(TTN):c.32198-9C>A rs555383226 0.00001
NM_001267550.2(TTN):c.32470G>T (p.Val10824Phe) rs753951400 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001267550.2(TTN):c.32630C>G (p.Pro10877Arg) rs915579403 0.00001
NM_001267550.2(TTN):c.326G>A (p.Arg109Gln) rs766434493 0.00001
NM_001267550.2(TTN):c.32781A>T (p.Lys10927Asn) rs1250259159 0.00001
NM_001267550.2(TTN):c.32887+3A>G rs796176592 0.00001
NM_001267550.2(TTN):c.32974T>C (p.Tyr10992His) rs769393540 0.00001
NM_001267550.2(TTN):c.33172+3A>G rs2069431645 0.00001
NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr) rs545067681 0.00001
NM_001267550.2(TTN):c.33418+1G>A rs746588865 0.00001
NM_001267550.2(TTN):c.33419-2A>C rs756841034 0.00001
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser) rs377760800 0.00001
NM_001267550.2(TTN):c.33580G>A (p.Val11194Met) rs778695102 0.00001
NM_001267550.2(TTN):c.33581-8C>G rs888213772 0.00001
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr) rs769195017 0.00001
NM_001267550.2(TTN):c.33788T>C (p.Val11263Ala) rs748148683 0.00001
NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg) rs181375012 0.00001
NM_001267550.2(TTN):c.33911-7T>C rs397517545 0.00001
NM_001267550.2(TTN):c.33961G>A (p.Val11321Ile) rs878854298 0.00001
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys) rs765827814 0.00001
NM_001267550.2(TTN):c.34238C>G (p.Pro11413Arg) rs769658955 0.00001
NM_001267550.2(TTN):c.34240G>A (p.Glu11414Lys) rs748080418 0.00001
NM_001267550.2(TTN):c.34446del (p.Ala11483fs) rs1488354536 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001267550.2(TTN):c.34583C>T (p.Pro11528Leu) rs1553815977 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.34612+3A>G rs371880098 0.00001
NM_001267550.2(TTN):c.34670C>T (p.Pro11557Leu) rs887706962 0.00001
NM_001267550.2(TTN):c.34826T>C (p.Val11609Ala) rs767524348 0.00001
NM_001267550.2(TTN):c.34969C>T (p.Arg11657Cys) rs1187808745 0.00001
NM_001267550.2(TTN):c.35265A>G (p.Lys11755=) rs774526152 0.00001
NM_001267550.2(TTN):c.35293G>C (p.Glu11765Gln) rs1060500577 0.00001
NM_001267550.2(TTN):c.35294A>G (p.Glu11765Gly) rs1319484684 0.00001
NM_001267550.2(TTN):c.35629+3A>G rs751928755 0.00001
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser) rs750832804 0.00001
NM_001267550.2(TTN):c.36043+6T>C rs765412168 0.00001
NM_001267550.2(TTN):c.3611A>C (p.Glu1204Ala) rs779302369 0.00001
NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser) rs200749662 0.00001
NM_001267550.2(TTN):c.36322T>A (p.Ser12108Thr) rs989137248 0.00001
NM_001267550.2(TTN):c.36365-7T>C rs746341489 0.00001
NM_001267550.2(TTN):c.36532G>A (p.Val12178Met) rs1664222065 0.00001
NM_001267550.2(TTN):c.36568A>G (p.Lys12190Glu) rs749339946 0.00001
NM_001267550.2(TTN):c.37208A>C (p.Glu12403Ala) rs878854301 0.00001
NM_001267550.2(TTN):c.3729+4A>G rs1170576212 0.00001
NM_001267550.2(TTN):c.38002A>G (p.Thr12668Ala) rs1168512202 0.00001
NM_001267550.2(TTN):c.38042C>T (p.Pro12681Leu) rs1553777756 0.00001
NM_001267550.2(TTN):c.38316A>C (p.Glu12772Asp) rs1195550297 0.00001
NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu) rs864622709 0.00001
NM_001267550.2(TTN):c.38465-5T>A rs906108078 0.00001
NM_001267550.2(TTN):c.38792-2A>T rs1185808525 0.00001
NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr) rs878854302 0.00001
NM_001267550.2(TTN):c.39089C>T (p.Ala13030Val) rs747459623 0.00001
NM_001267550.2(TTN):c.39295G>A (p.Val13099Met) rs1394450889 0.00001
NM_001267550.2(TTN):c.39418G>A (p.Ala13140Thr) rs781407045 0.00001
NM_001267550.2(TTN):c.39547+1G>A rs1335572575 0.00001
NM_001267550.2(TTN):c.39709+3A>G rs543584748 0.00001
NM_001267550.2(TTN):c.39851A>G (p.Lys13284Arg) rs768562722 0.00001
NM_001267550.2(TTN):c.39883C>A (p.Pro13295Thr) rs749860520 0.00001
NM_001267550.2(TTN):c.40126G>A (p.Val13376Ile) rs1060500428 0.00001
NM_001267550.2(TTN):c.40222+6T>C rs1182693405 0.00001
NM_001267550.2(TTN):c.40349C>T (p.Pro13450Leu) rs372424006 0.00001
NM_001267550.2(TTN):c.40409-3A>C rs1269069315 0.00001
NM_001267550.2(TTN):c.40558+4T>C rs398124451 0.00001
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile) rs587780488 0.00001
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly) rs756446770 0.00001
NM_001267550.2(TTN):c.40634-1G>A rs749062863 0.00001
NM_001267550.2(TTN):c.40690A>G (p.Lys13564Glu) rs758942655 0.00001
NM_001267550.2(TTN):c.40723+3A>G rs1468033868 0.00001
NM_001267550.2(TTN):c.40766C>T (p.Pro13589Leu) rs200939270 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.40786+3G>A rs551963261 0.00001
NM_001267550.2(TTN):c.40877-3C>A rs746615904 0.00001
NM_001267550.2(TTN):c.40946C>T (p.Pro13649Leu) rs771839127 0.00001
NM_001267550.2(TTN):c.40988G>A (p.Ser13663Asn) rs1060500537 0.00001
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro) rs72650078 0.00001
NM_001267550.2(TTN):c.41146A>G (p.Ile13716Val) rs531807386 0.00001
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His) rs750520224 0.00001
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His) rs370878642 0.00001
NM_001267550.2(TTN):c.41540C>T (p.Ala13847Val) rs1439068447 0.00001
NM_001267550.2(TTN):c.41620G>A (p.Asp13874Asn) rs770045249 0.00001
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu) rs144011561 0.00001
NM_001267550.2(TTN):c.41745G>A (p.Ala13915=) rs780790022 0.00001
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His) rs540582993 0.00001
NM_001267550.2(TTN):c.41894T>G (p.Val13965Gly) rs878854306 0.00001
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln) rs764083952 0.00001
NM_001267550.2(TTN):c.42764G>A (p.Ser14255Asn) rs368433387 0.00001
NM_001267550.2(TTN):c.42769G>A (p.Asp14257Asn) rs746571349 0.00001
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe) rs397517568 0.00001
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071 0.00001
NM_001267550.2(TTN):c.42946+3G>A rs763647141 0.00001
NM_001267550.2(TTN):c.4309A>G (p.Met1437Val) rs758098952 0.00001
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr) rs397517572 0.00001
NM_001267550.2(TTN):c.43146G>A (p.Leu14382=) rs751236287 0.00001
NM_001267550.2(TTN):c.43249G>A (p.Val14417Ile) rs906675886 0.00001
NM_001267550.2(TTN):c.43480+3A>T rs1471215133 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.43600C>T (p.Gln14534Ter) rs727504499 0.00001
NM_001267550.2(TTN):c.43669G>A (p.Asp14557Asn) rs794729431 0.00001
NM_001267550.2(TTN):c.43681G>T (p.Asp14561Tyr) rs745655055 0.00001
NM_001267550.2(TTN):c.43717A>G (p.Met14573Val) rs755610701 0.00001
NM_001267550.2(TTN):c.43955T>C (p.Ile14652Thr) rs767038885 0.00001
NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn) rs1339350914 0.00001
NM_001267550.2(TTN):c.44017C>G (p.Arg14673Gly) rs773004022 0.00001
NM_001267550.2(TTN):c.44154+6G>T rs794729234 0.00001
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln) rs727505019 0.00001
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn) rs753053245 0.00001
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met) rs775225695 0.00001
NM_001267550.2(TTN):c.4453A>G (p.Met1485Val) rs753632784 0.00001
NM_001267550.2(TTN):c.4480G>A (p.Gly1494Ser) rs774506028 0.00001
NM_001267550.2(TTN):c.44998A>G (p.Ile15000Val) rs775264673 0.00001
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405 0.00001
NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr) rs759247684 0.00001
NM_001267550.2(TTN):c.45589A>G (p.Arg15197Gly) rs748906368 0.00001
NM_001267550.2(TTN):c.4558G>A (p.Ala1520Thr) rs1060500440 0.00001
NM_001267550.2(TTN):c.45616+1G>C rs1395648308 0.00001
NM_001267550.2(TTN):c.45916G>A (p.Glu15306Lys) rs774339883 0.00001
NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr) rs397517585 0.00001
NM_001267550.2(TTN):c.46169C>T (p.Pro15390Leu) rs879113967 0.00001
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys) rs753664074 0.00001
NM_001267550.2(TTN):c.46371G>C (p.Glu15457Asp) rs764100235 0.00001
NM_001267550.2(TTN):c.4649T>C (p.Val1550Ala) rs765557850 0.00001
NM_001267550.2(TTN):c.46521G>C (p.Lys15507Asn) rs781291079 0.00001
NM_001267550.2(TTN):c.46702C>T (p.Pro15568Ser) rs561728671 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys) rs577133803 0.00001
NM_001267550.2(TTN):c.47296A>T (p.Thr15766Ser) rs878854312 0.00001
NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile) rs727504878 0.00001
NM_001267550.2(TTN):c.47498T>A (p.Val15833Glu) rs758495958 0.00001
NM_001267550.2(TTN):c.47530C>G (p.Pro15844Ala) rs760956511 0.00001
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu) rs764059405 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser) rs1012905833 0.00001
NM_001267550.2(TTN):c.47875+6T>C rs780524253 0.00001
NM_001267550.2(TTN):c.48119G>A (p.Arg16040His) rs956699957 0.00001
NM_001267550.2(TTN):c.48152A>G (p.Asn16051Ser) rs534426018 0.00001
NM_001267550.2(TTN):c.48331G>A (p.Asp16111Asn) rs769898196 0.00001
NM_001267550.2(TTN):c.48337G>A (p.Glu16113Lys) rs548275593 0.00001
NM_001267550.2(TTN):c.48409C>T (p.Pro16137Ser) rs879009898 0.00001
NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met) rs771120250 0.00001
NM_001267550.2(TTN):c.48498T>G (p.Asp16166Glu) rs1429263816 0.00001
NM_001267550.2(TTN):c.48560T>G (p.Ile16187Ser) rs777279411 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.48842C>T (p.Thr16281Ile) rs1553703631 0.00001
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile) rs754110019 0.00001
NM_001267550.2(TTN):c.49016G>A (p.Arg16339Gln) rs558487304 0.00001
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu) rs776274777 0.00001
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys) rs764682084 0.00001
NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser) rs879180534 0.00001
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) rs749438439 0.00001
NM_001267550.2(TTN):c.49834C>T (p.Leu16612Phe) rs750840061 0.00001
NM_001267550.2(TTN):c.49837C>G (p.Pro16613Ala) rs1468557688 0.00001
NM_001267550.2(TTN):c.49978G>A (p.Val16660Ile) rs757016105 0.00001
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys) rs140494897 0.00001
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=) rs374138859 0.00001
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr) rs950940404 0.00001
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn) rs794729239 0.00001
NM_001267550.2(TTN):c.50549_50551+5dup rs1060500453 0.00001
NM_001267550.2(TTN):c.50554C>T (p.Pro16852Ser) rs752660748 0.00001
NM_001267550.2(TTN):c.5080C>T (p.Leu1694Phe) rs769798880 0.00001
NM_001267550.2(TTN):c.50905G>C (p.Gly16969Arg) rs878854314 0.00001
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn) rs755153359 0.00001
NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys) rs773394284 0.00001
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val) rs370696020 0.00001
NM_001267550.2(TTN):c.51377A>G (p.Lys17126Arg) rs757728544 0.00001
NM_001267550.2(TTN):c.51449C>T (p.Pro17150Leu) rs764792715 0.00001
NM_001267550.2(TTN):c.51593A>G (p.Asn17198Ser) rs766535854 0.00001
NM_001267550.2(TTN):c.51649G>A (p.Glu17217Lys) rs1060500503 0.00001
NM_001267550.2(TTN):c.51823C>T (p.Pro17275Ser) rs752852690 0.00001
NM_001267550.2(TTN):c.52067G>A (p.Gly17356Asp) rs759091835 0.00001
NM_001267550.2(TTN):c.52135G>C (p.Glu17379Gln) rs770795675 0.00001
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn) rs397517609 0.00001
NM_001267550.2(TTN):c.52304T>A (p.Leu17435Gln) rs1060500542 0.00001
NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu) rs1356720044 0.00001
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00001
NM_001267550.2(TTN):c.52595A>G (p.Asp17532Gly) rs1401966542 0.00001
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr) rs1553686153 0.00001
NM_001267550.2(TTN):c.53402T>C (p.Ile17801Thr) rs370929667 0.00001
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) rs755252821 0.00001
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys) rs201052994 0.00001
NM_001267550.2(TTN):c.53839G>A (p.Glu17947Lys) rs1445321949 0.00001
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys) rs554701601 0.00001
NM_001267550.2(TTN):c.54697G>A (p.Val18233Ile) rs374996996 0.00001
NM_001267550.2(TTN):c.54698T>A (p.Val18233Asp) rs1060500469 0.00001
NM_001267550.2(TTN):c.54700C>A (p.Pro18234Thr) rs1060500416 0.00001
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser) rs1162176452 0.00001
NM_001267550.2(TTN):c.55195C>T (p.Pro18399Ser) rs774591174 0.00001
NM_001267550.2(TTN):c.55228T>C (p.Ser18410Pro) rs778636992 0.00001
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=) rs567251026 0.00001
NM_001267550.2(TTN):c.55432+3A>G rs1439287309 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.55516G>A (p.Asp18506Asn) rs757839460 0.00001
NM_001267550.2(TTN):c.55910G>A (p.Arg18637His) rs758627195 0.00001
NM_001267550.2(TTN):c.56050T>C (p.Cys18684Arg) rs761599633 0.00001
NM_001267550.2(TTN):c.56213T>G (p.Val18738Gly) rs777956655 0.00001
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu) rs745311218 0.00001
NM_001267550.2(TTN):c.56653C>T (p.Pro18885Ser) rs747971851 0.00001
NM_001267550.2(TTN):c.56674A>C (p.Thr18892Pro) rs780258242 0.00001
NM_001267550.2(TTN):c.5683C>T (p.His1895Tyr) rs794729577 0.00001
NM_001267550.2(TTN):c.56963-3C>T rs375979145 0.00001
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val) rs876658068 0.00001
NM_001267550.2(TTN):c.5722G>A (p.Gly1908Ser) rs964474432 0.00001
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe) rs727505347 0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985 0.00001
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys) rs375305621 0.00001
NM_001267550.2(TTN):c.57544+4A>G rs869312053 0.00001
NM_001267550.2(TTN):c.57635G>A (p.Gly19212Glu) rs761511119 0.00001
NM_001267550.2(TTN):c.5785A>T (p.Ile1929Phe) rs748917796 0.00001
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00001
NM_001267550.2(TTN):c.58295G>A (p.Arg19432His) rs745631866 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.58447C>G (p.Pro19483Ala) rs367624056 0.00001
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys) rs746319976 0.00001
NM_001267550.2(TTN):c.58616G>T (p.Cys19539Phe) rs539868284 0.00001
NM_001267550.2(TTN):c.58658G>A (p.Arg19553Gln) rs543279513 0.00001
NM_001267550.2(TTN):c.5867A>G (p.Lys1956Arg) rs1554006239 0.00001
NM_001267550.2(TTN):c.58720A>G (p.Lys19574Glu) rs1032128606 0.00001
NM_001267550.2(TTN):c.59294A>T (p.Glu19765Val) rs766141647 0.00001
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu) rs771610118 0.00001
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly) rs1016296280 0.00001
NM_001267550.2(TTN):c.59858C>T (p.Ala19953Val) rs754149259 0.00001
NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe) rs774488793 0.00001
NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met) rs727504208 0.00001
NM_001267550.2(TTN):c.6043G>A (p.Ala2015Thr) rs776534823 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.60653C>T (p.Thr20218Met) rs375155937 0.00001
NM_001267550.2(TTN):c.60707T>G (p.Leu20236Arg) rs778953994 0.00001
NM_001267550.2(TTN):c.60934G>A (p.Glu20312Lys) rs759127797 0.00001
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp) rs765839032 0.00001
NM_001267550.2(TTN):c.61073C>T (p.Pro20358Leu) rs751194376 0.00001
NM_001267550.2(TTN):c.61075A>G (p.Ser20359Gly) rs762408700 0.00001
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) rs756873840 0.00001
NM_001267550.2(TTN):c.61645A>G (p.Ile20549Val) rs750680415 0.00001
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys) rs371014957 0.00001
NM_001267550.2(TTN):c.61813A>G (p.Ile20605Val) rs759096564 0.00001
NM_001267550.2(TTN):c.61814T>C (p.Ile20605Thr) rs140252432 0.00001
NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu) rs759437501 0.00001
NM_001267550.2(TTN):c.62057A>G (p.Tyr20686Cys) rs755470129 0.00001
NM_001267550.2(TTN):c.62214T>G (p.Ile20738Met) rs1388003753 0.00001
NM_001267550.2(TTN):c.62467C>T (p.Arg20823Cys) rs779686013 0.00001
NM_001267550.2(TTN):c.62537C>T (p.Ala20846Val) rs1060500518 0.00001
NM_001267550.2(TTN):c.62602G>A (p.Val20868Met) rs371004819 0.00001
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala) rs538308579 0.00001
NM_001267550.2(TTN):c.62696A>G (p.Tyr20899Cys) rs564111693 0.00001
NM_001267550.2(TTN):c.62699T>C (p.Ile20900Thr) rs770522021 0.00001
NM_001267550.2(TTN):c.62732G>C (p.Trp20911Ser) rs1243863753 0.00001
NM_001267550.2(TTN):c.62848A>G (p.Thr20950Ala) rs748774963 0.00001
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys) rs767887086 0.00001
NM_001267550.2(TTN):c.62897G>A (p.Arg20966His) rs1174185176 0.00001
NM_001267550.2(TTN):c.63187+3A>C rs948908180 0.00001
NM_001267550.2(TTN):c.63227C>T (p.Thr21076Ile) rs972090108 0.00001
NM_001267550.2(TTN):c.63332C>T (p.Ser21111Phe) rs547033801 0.00001
NM_001267550.2(TTN):c.63380G>A (p.Arg21127His) rs201226615 0.00001
NM_001267550.2(TTN):c.63559A>G (p.Arg21187Gly) rs368288863 0.00001
NM_001267550.2(TTN):c.6358C>T (p.Arg2120Trp) rs116158152 0.00001
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu) rs776468606 0.00001
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser) rs753121509 0.00001
NM_001267550.2(TTN):c.64088C>G (p.Pro21363Arg) rs781561933 0.00001
NM_001267550.2(TTN):c.64615C>T (p.Leu21539Phe) rs1060500431 0.00001
NM_001267550.2(TTN):c.64887G>C (p.Glu21629Asp) rs779232091 0.00001
NM_001267550.2(TTN):c.64897C>T (p.Arg21633Trp) rs749576292 0.00001
NM_001267550.2(TTN):c.64933C>T (p.Pro21645Ser) rs1553632774 0.00001
NM_001267550.2(TTN):c.6508+1G>T rs1373416532 0.00001
NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser) rs756099303 0.00001
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr) rs727503580 0.00001
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg) rs886038921 0.00001
NM_001267550.2(TTN):c.65727C>T (p.Gly21909=) rs1246746665 0.00001
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) rs373636513 0.00001
NM_001267550.2(TTN):c.66067G>A (p.Gly22023Ser) rs1060500452 0.00001
NM_001267550.2(TTN):c.66085C>T (p.Arg22029Cys) rs769739080 0.00001
NM_001267550.2(TTN):c.6612A>T (p.Lys2204Asn) rs1060500448 0.00001
NM_001267550.2(TTN):c.66200T>C (p.Ile22067Thr) rs368042545 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.662T>C (p.Ile221Thr) rs781543487 0.00001
NM_001267550.2(TTN):c.66452G>A (p.Arg22151Gln) rs781750042 0.00001
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys) rs879016147 0.00001
NM_001267550.2(TTN):c.66628C>A (p.Gln22210Lys) rs757047748 0.00001
NM_001267550.2(TTN):c.66668T>C (p.Met22223Thr) rs752794705 0.00001
NM_001267550.2(TTN):c.66691C>T (p.Arg22231Cys) rs760026147 0.00001
NM_001267550.2(TTN):c.66723T>G (p.Ser22241Arg) rs778956602 0.00001
NM_001267550.2(TTN):c.66736G>A (p.Val22246Met) rs1393150545 0.00001
NM_001267550.2(TTN):c.66769+4A>G rs368682419 0.00001
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp) rs574543857 0.00001
NM_001267550.2(TTN):c.66786A>T (p.Glu22262Asp) rs1022562370 0.00001
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys) rs770627108 0.00001
NM_001267550.2(TTN):c.67001T>C (p.Leu22334Ser) rs758106978 0.00001
NM_001267550.2(TTN):c.67048A>C (p.Lys22350Gln) rs1370592733 0.00001
NM_001267550.2(TTN):c.67118T>A (p.Val22373Asp) rs774568339 0.00001
NM_001267550.2(TTN):c.67153C>T (p.Pro22385Ser) rs781562260 0.00001
NM_001267550.2(TTN):c.67208C>T (p.Thr22403Ile) rs767363142 0.00001
NM_001267550.2(TTN):c.67300T>A (p.Tyr22434Asn) rs1553623044 0.00001
NM_001267550.2(TTN):c.67348+5G>A rs765587170 0.00001
NM_001267550.2(TTN):c.67989A>T (p.Leu22663Phe) rs1485610846 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68224+3A>G rs1006017098 0.00001
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser) rs764562311 0.00001
NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser) rs761226149 0.00001
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala) rs143679901 0.00001
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser) rs754307416 0.00001
NM_001267550.2(TTN):c.68678A>G (p.His22893Arg) rs1039583705 0.00001
NM_001267550.2(TTN):c.68728G>A (p.Gly22910Arg) rs794729245 0.00001
NM_001267550.2(TTN):c.68824+5G>C rs749639627 0.00001
NM_001267550.2(TTN):c.68984A>C (p.Gln22995Pro) rs879410317 0.00001
NM_001267550.2(TTN):c.69175C>T (p.Leu23059Phe) rs1394979272 0.00001
NM_001267550.2(TTN):c.69379C>G (p.Gln23127Glu) rs953796748 0.00001
NM_001267550.2(TTN):c.69515C>T (p.Thr23172Ile) rs752643010 0.00001
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr) rs1554002409 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr) rs746519147 0.00001
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 0.00001
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys) rs397517682 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70240G>T (p.Val23414Phe) rs759158138 0.00001
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu) rs200029470 0.00001
NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu) rs794729486 0.00001
NM_001267550.2(TTN):c.70564G>A (p.Glu23522Lys) rs561586925 0.00001
NM_001267550.2(TTN):c.70595C>T (p.Ala23532Val) rs1389381134 0.00001
NM_001267550.2(TTN):c.70753G>A (p.Val23585Met) rs754040141 0.00001
NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu) rs1060500459 0.00001
NM_001267550.2(TTN):c.71132T>C (p.Ile23711Thr) rs752317656 0.00001
NM_001267550.2(TTN):c.71347C>T (p.Arg23783Cys) rs754516257 0.00001
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys) rs775743818 0.00001
NM_001267550.2(TTN):c.71729G>A (p.Ser23910Asn) rs1060500509 0.00001
NM_001267550.2(TTN):c.71908C>T (p.Arg23970Trp) rs748041610 0.00001
NM_001267550.2(TTN):c.72363C>G (p.Asp24121Glu) rs919790172 0.00001
NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn) rs1383990376 0.00001
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys) rs778284888 0.00001
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) rs786205303 0.00001
NM_001267550.2(TTN):c.72785G>A (p.Arg24262His) rs372390659 0.00001
NM_001267550.2(TTN):c.72863C>G (p.Thr24288Arg) rs878997916 0.00001
NM_001267550.2(TTN):c.73021T>G (p.Ser24341Ala) rs1397935154 0.00001
NM_001267550.2(TTN):c.73258G>A (p.Glu24420Lys) rs1265445775 0.00001
NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly) rs573355547 0.00001
NM_001267550.2(TTN):c.73930G>A (p.Gly24644Arg) rs1553606142 0.00001
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu) rs55713856 0.00001
NM_001267550.2(TTN):c.74189G>A (p.Gly24730Asp) rs781046518 0.00001
NM_001267550.2(TTN):c.74224C>T (p.Arg24742Cys) rs369489704 0.00001
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) rs776673912 0.00001
NM_001267550.2(TTN):c.74482C>G (p.Leu24828Val) rs375181431 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys) rs200131545 0.00001
NM_001267550.2(TTN):c.75016C>T (p.Pro25006Ser) rs1264279589 0.00001
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln) rs369559000 0.00001
NM_001267550.2(TTN):c.75155G>A (p.Arg25052His) rs542720402 0.00001
NM_001267550.2(TTN):c.7516C>G (p.Arg2506Gly) rs780415493 0.00001
NM_001267550.2(TTN):c.75238C>T (p.Arg25080Trp) rs1370877041 0.00001
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys) rs116049561 0.00001
NM_001267550.2(TTN):c.75526C>T (p.Arg25176Cys) rs368339903 0.00001
NM_001267550.2(TTN):c.75816C>T (p.Gly25272=) rs770708534 0.00001
NM_001267550.2(TTN):c.75934G>A (p.Glu25312Lys) rs770655678 0.00001
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr) rs201776072 0.00001
NM_001267550.2(TTN):c.7600A>G (p.Lys2534Glu) rs767167863 0.00001
NM_001267550.2(TTN):c.76030C>T (p.Arg25344Trp) rs371696090 0.00001
NM_001267550.2(TTN):c.76064A>G (p.His25355Arg) rs1399292028 0.00001
NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys) rs757511354 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.76168C>T (p.Pro25390Ser) rs878948198 0.00001
NM_001267550.2(TTN):c.76238A>G (p.Lys25413Arg) rs367696053 0.00001
NM_001267550.2(TTN):c.76541T>C (p.Leu25514Pro) rs1553601755 0.00001
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) rs376185524 0.00001
NM_001267550.2(TTN):c.76577G>A (p.Gly25526Asp) rs369344156 0.00001
NM_001267550.2(TTN):c.76672G>T (p.Asp25558Tyr) rs750336110 0.00001
NM_001267550.2(TTN):c.76889G>T (p.Gly25630Val) rs760386525 0.00001
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala) rs370768049 0.00001
NM_001267550.2(TTN):c.76962C>G (p.Asn25654Lys) rs755800765 0.00001
NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met) rs755225678 0.00001
NM_001267550.2(TTN):c.77188A>G (p.Ile25730Val) rs745981754 0.00001
NM_001267550.2(TTN):c.77510C>T (p.Pro25837Leu) rs752618930 0.00001
NM_001267550.2(TTN):c.77623G>A (p.Val25875Ile) rs763284241 0.00001
NM_001267550.2(TTN):c.77781T>G (p.Ile25927Met) rs1226545466 0.00001
NM_001267550.2(TTN):c.77821G>A (p.Val25941Ile) rs928158833 0.00001
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=) rs935809232 0.00001
NM_001267550.2(TTN):c.78231C>A (p.Ser26077Arg) rs1553596375 0.00001
NM_001267550.2(TTN):c.78577A>C (p.Ile26193Leu) rs727505241 0.00001
NM_001267550.2(TTN):c.79068A>G (p.Glu26356=) rs375454098 0.00001
NM_001267550.2(TTN):c.79145A>C (p.Asn26382Thr) rs727505049 0.00001
NM_001267550.2(TTN):c.79264A>G (p.Ile26422Val) rs1553590996 0.00001
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met) rs1380054566 0.00001
NM_001267550.2(TTN):c.7952_7953dup (p.Trp2652fs) rs1340562376 0.00001
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala) rs775053902 0.00001
NM_001267550.2(TTN):c.79640G>A (p.Arg26547Gln) rs771534555 0.00001
NM_001267550.2(TTN):c.79768C>T (p.Pro26590Ser) rs767838835 0.00001
NM_001267550.2(TTN):c.80170G>A (p.Glu26724Lys) rs367812761 0.00001
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr) rs368263400 0.00001
NM_001267550.2(TTN):c.80399T>C (p.Met26800Thr) rs761384994 0.00001
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln) rs898433512 0.00001
NM_001267550.2(TTN):c.80704C>T (p.Pro26902Ser) rs1024262797 0.00001
NM_001267550.2(TTN):c.80726C>T (p.Pro26909Leu) rs1553581878 0.00001
NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile) rs780885076 0.00001
NM_001267550.2(TTN):c.8095T>G (p.Ser2699Ala) rs373857878 0.00001
NM_001267550.2(TTN):c.81094A>G (p.Ile27032Val) rs369908251 0.00001
NM_001267550.2(TTN):c.81347G>A (p.Ser27116Asn) rs1234317183 0.00001
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg) rs727504678 0.00001
NM_001267550.2(TTN):c.81653T>C (p.Met27218Thr) rs1332904652 0.00001
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys) rs371592971 0.00001
NM_001267550.2(TTN):c.82060G>A (p.Val27354Ile) rs878854336 0.00001
NM_001267550.2(TTN):c.82064G>A (p.Gly27355Asp) rs1474733241 0.00001
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg) rs754175266 0.00001
NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val) rs886039181 0.00001
NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys) rs774715672 0.00001
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg) rs937111656 0.00001
NM_001267550.2(TTN):c.82457T>C (p.Met27486Thr) rs746435098 0.00001
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=) rs775673876 0.00001
NM_001267550.2(TTN):c.82561A>G (p.Lys27521Glu) rs1060500417 0.00001
NM_001267550.2(TTN):c.82616C>G (p.Ser27539Cys) rs727503556 0.00001
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His) rs766522109 0.00001
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr) rs769343491 0.00001
NM_001267550.2(TTN):c.83105G>A (p.Arg27702Gln) rs776136653 0.00001
NM_001267550.2(TTN):c.83218G>A (p.Asp27740Asn) rs776130801 0.00001
NM_001267550.2(TTN):c.83227C>T (p.Arg27743Trp) rs1185542536 0.00001
NM_001267550.2(TTN):c.83228G>A (p.Arg27743Gln) rs768262273 0.00001
NM_001267550.2(TTN):c.83252A>G (p.Asn27751Ser) rs775527437 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr) rs397517723 0.00001
NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys) rs527624888 0.00001
NM_001267550.2(TTN):c.83649G>C (p.Lys27883Asn) rs878854337 0.00001
NM_001267550.2(TTN):c.83984A>C (p.Asn27995Thr) rs751728774 0.00001
NM_001267550.2(TTN):c.84011A>G (p.Lys28004Arg) rs776987640 0.00001
NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys) rs539595292 0.00001
NM_001267550.2(TTN):c.84335C>T (p.Thr28112Ile) rs1429490203 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.84497C>T (p.Ala28166Val) rs1553564661 0.00001
NM_001267550.2(TTN):c.84574G>A (p.Glu28192Lys) rs879123930 0.00001
NM_001267550.2(TTN):c.85036A>C (p.Ile28346Leu) rs912296403 0.00001
NM_001267550.2(TTN):c.85119G>T (p.Glu28373Asp) rs770787056 0.00001
NM_001267550.2(TTN):c.85204G>A (p.Ala28402Thr) rs1060500439 0.00001
NM_001267550.2(TTN):c.85649T>A (p.Val28550Asp) rs727505194 0.00001
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr) rs397517733 0.00001
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg) rs532818379 0.00001
NM_001267550.2(TTN):c.8648A>G (p.His2883Arg) rs753833148 0.00001
NM_001267550.2(TTN):c.86821+3A>G rs1010541689 0.00001
NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala) rs748587720 0.00001
NM_001267550.2(TTN):c.86846T>C (p.Leu28949Pro) rs745542033 0.00001
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile) rs750591986 0.00001
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr) rs768120552 0.00001
NM_001267550.2(TTN):c.87387C>G (p.Phe29129Leu) rs1335641292 0.00001
NM_001267550.2(TTN):c.87836G>C (p.Arg29279Thr) rs773541746 0.00001
NM_001267550.2(TTN):c.88009+5G>A rs148231754 0.00001
NM_001267550.2(TTN):c.88063T>C (p.Ser29355Pro) rs768443497 0.00001
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys) rs756679529 0.00001
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys) rs727505102 0.00001
NM_001267550.2(TTN):c.88163C>T (p.Thr29388Ile) rs775200192 0.00001
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His) rs143193258 0.00001
NM_001267550.2(TTN):c.88667G>A (p.Arg29556Gln) rs1207034709 0.00001
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln) rs755212831 0.00001
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp) rs750981091 0.00001
NM_001267550.2(TTN):c.88933A>T (p.Ile29645Phe) rs746067385 0.00001
NM_001267550.2(TTN):c.89072C>A (p.Thr29691Asn) rs794729525 0.00001
NM_001267550.2(TTN):c.89114A>G (p.Gln29705Arg) rs752538734 0.00001
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala) rs1454670479 0.00001
NM_001267550.2(TTN):c.89425C>T (p.Arg29809Trp) rs112777680 0.00001
NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr) rs201620815 0.00001
NM_001267550.2(TTN):c.8954C>G (p.Thr2985Ser) rs1553992057 0.00001
NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu) rs397517743 0.00001
NM_001267550.2(TTN):c.89689C>T (p.Leu29897Phe) rs180798672 0.00001
NM_001267550.2(TTN):c.8987G>T (p.Gly2996Val) rs779053650 0.00001
NM_001267550.2(TTN):c.90041G>A (p.Gly30014Glu) rs1359003253 0.00001
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys) rs397517747 0.00001
NM_001267550.2(TTN):c.90149G>C (p.Ser30050Thr) rs752534032 0.00001
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn) rs886039117 0.00001
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile) rs727505024 0.00001
NM_001267550.2(TTN):c.91022T>A (p.Met30341Lys) rs1379791737 0.00001
NM_001267550.2(TTN):c.91160C>T (p.Thr30387Ile) rs754591100 0.00001
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe) rs376494747 0.00001
NM_001267550.2(TTN):c.91277C>T (p.Pro30426Leu) rs774454485 0.00001
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp) rs751610164 0.00001
NM_001267550.2(TTN):c.91385G>A (p.Arg30462Gln) rs794729529 0.00001
NM_001267550.2(TTN):c.91475A>G (p.Tyr30492Cys) rs769678577 0.00001
NM_001267550.2(TTN):c.91536T>A (p.Ser30512=) rs769873625 0.00001
NM_001267550.2(TTN):c.9163+3A>G rs760597240 0.00001
NM_001267550.2(TTN):c.9164-9del rs752677873 0.00001
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr) rs984360776 0.00001
NM_001267550.2(TTN):c.91915C>G (p.Leu30639Val) rs373049260 0.00001
NM_001267550.2(TTN):c.9200T>C (p.Ile3067Thr) rs1435097269 0.00001
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys) rs376537509 0.00001
NM_001267550.2(TTN):c.92381A>G (p.His30794Arg) rs773998423 0.00001
NM_001267550.2(TTN):c.92449G>C (p.Glu30817Gln) rs529196025 0.00001
NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile) rs376287060 0.00001
NM_001267550.2(TTN):c.92520A>T (p.Leu30840Phe) rs772574748 0.00001
NM_001267550.2(TTN):c.92582G>A (p.Cys30861Tyr) rs1045877862 0.00001
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr) rs777150584 0.00001
NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp) rs754767262 0.00001
NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu) rs148676491 0.00001
NM_001267550.2(TTN):c.9305+4A>C rs746628782 0.00001
NM_001267550.2(TTN):c.93089G>A (p.Arg31030Gln) rs766391515 0.00001
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val) rs1023137329 0.00001
NM_001267550.2(TTN):c.93683A>G (p.Lys31228Arg) rs368714667 0.00001
NM_001267550.2(TTN):c.93866C>A (p.Thr31289Asn) rs371666313 0.00001
NM_001267550.2(TTN):c.94142T>C (p.Phe31381Ser) rs751185223 0.00001
NM_001267550.2(TTN):c.94157A>C (p.Glu31386Ala) rs772833696 0.00001
NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln) rs141093658 0.00001
NM_001267550.2(TTN):c.94502T>C (p.Ile31501Thr) rs758756316 0.00001
NM_001267550.2(TTN):c.94559G>A (p.Arg31520Lys) rs879111902 0.00001
NM_001267550.2(TTN):c.94634G>A (p.Arg31545His) rs920039018 0.00001
NM_001267550.2(TTN):c.94773C>T (p.Gly31591=) rs897518524 0.00001
NM_001267550.2(TTN):c.94807G>T (p.Val31603Phe) rs1060500567 0.00001
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr) rs751714990 0.00001
NM_001267550.2(TTN):c.94985T>A (p.Val31662Asp) rs1164809267 0.00001
NM_001267550.2(TTN):c.9502T>G (p.Phe3168Val) rs746038856 0.00001
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955 0.00001
NM_001267550.2(TTN):c.95111A>G (p.Lys31704Arg) rs754379972 0.00001
NM_001267550.2(TTN):c.95119G>C (p.Asp31707His) rs1360232560 0.00001
NM_001267550.2(TTN):c.95219T>C (p.Ile31740Thr) rs200781956 0.00001
NM_001267550.2(TTN):c.95281G>A (p.Glu31761Lys) rs727505342 0.00001
NM_001267550.2(TTN):c.95368C>T (p.Pro31790Ser) rs1235693684 0.00001
NM_001267550.2(TTN):c.95413T>C (p.Phe31805Leu) rs537065526 0.00001
NM_001267550.2(TTN):c.95497T>A (p.Ser31833Thr) rs764271138 0.00001
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys) rs774814532 0.00001
NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys) rs752756889 0.00001
NM_001267550.2(TTN):c.95645G>A (p.Arg31882Gln) rs767746607 0.00001
NM_001267550.2(TTN):c.95765C>G (p.Thr31922Ser) rs769771566 0.00001
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys) rs776682000 0.00001
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn) rs753559586 0.00001
NM_001267550.2(TTN):c.96462A>G (p.Thr32154=) rs776263585 0.00001
NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn) rs770101398 0.00001
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln) rs755082341 0.00001
NM_001267550.2(TTN):c.96715C>T (p.Leu32239Phe) rs889392294 0.00001
NM_001267550.2(TTN):c.96782A>G (p.Glu32261Gly) rs1060500578 0.00001
NM_001267550.2(TTN):c.97003C>T (p.Pro32335Ser) rs779886174 0.00001
NM_001267550.2(TTN):c.97192+4A>G rs370069759 0.00001
NM_001267550.2(TTN):c.971C>T (p.Pro324Leu) rs939333996 0.00001
NM_001267550.2(TTN):c.97405G>A (p.Glu32469Lys) rs1280768790 0.00001
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys) rs371924787 0.00001
NM_001267550.2(TTN):c.97426G>A (p.Ala32476Thr) rs760169773 0.00001
NM_001267550.2(TTN):c.974T>C (p.Leu325Ser) rs755076118 0.00001
NM_001267550.2(TTN):c.97586C>A (p.Ser32529Tyr) rs1060500480 0.00001
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys) rs761050391 0.00001
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His) rs535876380 0.00001
NM_001267550.2(TTN):c.97792A>G (p.Ile32598Val) rs372075164 0.00001
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile) rs944963846 0.00001
NM_001267550.2(TTN):c.97910T>C (p.Ile32637Thr) rs794729547 0.00001
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn) rs773776767 0.00001
NM_001267550.2(TTN):c.98237G>A (p.Ser32746Asn) rs1410694267 0.00001
NM_001267550.2(TTN):c.98426A>C (p.Gln32809Pro) rs1060500398 0.00001
NM_001267550.2(TTN):c.98615C>G (p.Ala32872Gly) rs150288160 0.00001
NM_001267550.2(TTN):c.98687C>T (p.Pro32896Leu) rs1335232513 0.00001
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) rs760917372 0.00001
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr) rs727504962 0.00001
NM_001267550.2(TTN):c.98907G>C (p.Gln32969His) rs1018386868 0.00001
NM_001267550.2(TTN):c.99062A>G (p.Lys33021Arg) rs749757136 0.00001
NM_001267550.2(TTN):c.99160A>C (p.Lys33054Gln) rs1553507202 0.00001
NM_001267550.2(TTN):c.99176C>T (p.Thr33059Ile) rs1038769207 0.00001
NM_001267550.2(TTN):c.99544G>A (p.Val33182Ile) rs1060500530 0.00001
NM_001267550.2(TTN):c.99836T>G (p.Val33279Gly) rs770098799 0.00001
NM_001267550.2(TTN):c.9983T>C (p.Val3328Ala) rs1060500412 0.00001
NM_001267550.2(TTN):c.99913A>G (p.Lys33305Glu) rs1553503789 0.00001
NM_001368067.1(LDB3):c.405C>A (p.His135Gln) rs928294708 0.00001
NM_001368067.1(LDB3):c.418G>A (p.Val140Met) rs745329859 0.00001
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser) rs915830221 0.00001
NM_001368067.1(LDB3):c.455C>A (p.Ala152Glu) rs753193786 0.00001
NM_001368067.1(LDB3):c.490G>C (p.Asp164His) rs1000020884 0.00001
NM_001368067.1(LDB3):c.517C>A (p.Gln173Lys) rs1220958570 0.00001
NM_001368067.1(LDB3):c.530A>G (p.Gln177Arg) rs1310394018 0.00001
NM_001368067.1(LDB3):c.545G>A (p.Ser182Asn) rs774522659 0.00001
NM_001368067.1(LDB3):c.766G>A (p.Glu256Lys) rs774307690 0.00001
NM_001368067.1(LDB3):c.772G>C (p.Glu258Gln) rs868365512 0.00001
NM_001368067.1(LDB3):c.776G>A (p.Arg259His) rs557033441 0.00001
NM_001368067.1(LDB3):c.803G>A (p.Arg268His) rs751981682 0.00001
NM_001378030.1(CCDC78):c.1039C>T (p.His347Tyr) rs369908634 0.00001
NM_001378030.1(CCDC78):c.1052A>G (p.Gln351Arg) rs371921917 0.00001
NM_001378030.1(CCDC78):c.1054-9C>G rs781457535 0.00001
NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg) rs199867890 0.00001
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs) rs765483630 0.00001
NM_001378030.1(CCDC78):c.1124C>G (p.Ser375Ter) rs1475409165 0.00001
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp) rs1296158476 0.00001
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln) rs376513788 0.00001
NM_001378030.1(CCDC78):c.1247T>C (p.Met416Thr) rs1180613590 0.00001
NM_001378030.1(CCDC78):c.1299C>A (p.Gly433=) rs1482540009 0.00001
NM_001378030.1(CCDC78):c.1302-1G>C rs764699064 0.00001
NM_001378030.1(CCDC78):c.151C>G (p.Leu51Val) rs1064794620 0.00001
NM_001378030.1(CCDC78):c.169C>A (p.Gln57Lys) rs1180264424 0.00001
NM_001378030.1(CCDC78):c.1A>G (p.Met1Val) rs768740042 0.00001
NM_001378030.1(CCDC78):c.211A>G (p.Thr71Ala) rs750616701 0.00001
NM_001378030.1(CCDC78):c.217C>T (p.His73Tyr) rs1477528084 0.00001
NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys) rs549450998 0.00001
NM_001378030.1(CCDC78):c.247A>G (p.Ile83Val) rs558878970 0.00001
NM_001378030.1(CCDC78):c.256C>G (p.Leu86Val) rs748438652 0.00001
NM_001378030.1(CCDC78):c.267+3G>A rs749827376 0.00001
NM_001378030.1(CCDC78):c.286C>T (p.Arg96Trp) rs767068294 0.00001
NM_001378030.1(CCDC78):c.307C>T (p.Arg103Ter) rs776512977 0.00001
NM_001378030.1(CCDC78):c.327G>C (p.Gln109His) rs1246634377 0.00001
NM_001378030.1(CCDC78):c.328G>T (p.Gly110Cys) rs777956994 0.00001
NM_001378030.1(CCDC78):c.344T>C (p.Val115Ala) rs779855089 0.00001
NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter) rs1014643433 0.00001
NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser) rs2040942356 0.00001
NM_001378030.1(CCDC78):c.433C>T (p.Gln145Ter) rs745710346 0.00001
NM_001378030.1(CCDC78):c.435+13A>G rs966308561 0.00001
NM_001378030.1(CCDC78):c.435+7A>G rs751070375 0.00001
NM_001378030.1(CCDC78):c.436-2A>G rs778608633 0.00001
NM_001378030.1(CCDC78):c.492+6T>C rs1283039950 0.00001
NM_001378030.1(CCDC78):c.509A>T (p.Lys170Met) rs1555486210 0.00001
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln) rs560987339 0.00001
NM_001378030.1(CCDC78):c.628A>T (p.Thr210Ser) rs375138705 0.00001
NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser) rs1374522692 0.00001
NM_001378030.1(CCDC78):c.707T>C (p.Leu236Pro) rs1352546137 0.00001
NM_001378030.1(CCDC78):c.736C>G (p.Arg246Gly) rs749095737 0.00001
NM_001378030.1(CCDC78):c.760G>A (p.Ala254Thr) rs1338935088 0.00001
NM_001378030.1(CCDC78):c.763G>A (p.Val255Met) rs763349441 0.00001
NM_001378030.1(CCDC78):c.763_765+5del rs1406110108 0.00001
NM_001378030.1(CCDC78):c.767A>G (p.Glu256Gly) rs1374510953 0.00001
NM_001378030.1(CCDC78):c.772G>A (p.Ala258Thr) rs778696812 0.00001
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp) rs747752625 0.00001
NM_001378030.1(CCDC78):c.851C>T (p.Ala284Val) rs749614530 0.00001
NM_001378030.1(CCDC78):c.886G>A (p.Ala296Thr) rs1395442564 0.00001
NM_001378030.1(CCDC78):c.910G>C (p.Val304Leu) rs1014754418 0.00001
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His) rs151049173 0.00001
NM_001378030.1(CCDC78):c.930T>G (p.His310Gln) rs750273057 0.00001
NM_001378030.1(CCDC78):c.934G>A (p.Glu312Lys) rs767319981 0.00001
NM_001382567.1(STIM1):c.1025A>G (p.Tyr342Cys) rs1565170451 0.00001
NM_001382567.1(STIM1):c.1075G>C (p.Val359Leu) rs1565170474 0.00001
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu) rs200907515 0.00001
NM_001382567.1(STIM1):c.110G>C (p.Gly37Ala) rs201156770 0.00001
NM_001382567.1(STIM1):c.1137+3G>A rs199831332 0.00001
NM_001382567.1(STIM1):c.1154A>G (p.Lys385Arg) rs768311695 0.00001
NM_001382567.1(STIM1):c.1175G>C (p.Gly392Ala) rs1464170461 0.00001
NM_001382567.1(STIM1):c.1186G>A (p.Val396Met) rs1430915758 0.00001
NM_001382567.1(STIM1):c.1206G>A (p.Leu402=) rs760051786 0.00001
NM_001382567.1(STIM1):c.1252G>A (p.Glu418Lys) rs774565443 0.00001
NM_001382567.1(STIM1):c.1270C>T (p.Arg424Trp) rs200892145 0.00001
NM_001382567.1(STIM1):c.1291C>A (p.Gln431Lys) rs199666087 0.00001
NM_001382567.1(STIM1):c.1337G>A (p.Gly446Asp) rs1411280995 0.00001
NM_001382567.1(STIM1):c.1429G>A (p.Val477Met) rs199963821 0.00001
NM_001382567.1(STIM1):c.1439T>C (p.Met480Thr) rs762820296 0.00001
NM_001382567.1(STIM1):c.1447G>A (p.Glu483Lys) rs1449184284 0.00001
NM_001382567.1(STIM1):c.149G>A (p.Arg50Gln) rs201245746 0.00001
NM_001382567.1(STIM1):c.1615C>T (p.His539Tyr) rs1343386197 0.00001
NM_001382567.1(STIM1):c.1616A>G (p.His539Arg) rs2094494239 0.00001
NM_001382567.1(STIM1):c.1636G>T (p.Asp546Tyr) rs534419041 0.00001
NM_001382567.1(STIM1):c.1655C>T (p.Ser552Leu) rs745539009 0.00001
NM_001382567.1(STIM1):c.1682G>A (p.Arg561His) rs746517083 0.00001
NM_001382567.1(STIM1):c.1687C>T (p.Arg563Cys) rs202166909 0.00001
NM_001382567.1(STIM1):c.1688G>A (p.Arg563His) rs771442242 0.00001
NM_001382567.1(STIM1):c.1718G>A (p.Arg573His) rs202147687 0.00001
NM_001382567.1(STIM1):c.1754A>G (p.Asn585Ser) rs748820994 0.00001
NM_001382567.1(STIM1):c.1774G>A (p.Glu592Lys) rs200557274 0.00001
NM_001382567.1(STIM1):c.1822G>A (p.Ala608Thr) rs2094524790 0.00001
NM_001382567.1(STIM1):c.1873C>T (p.His625Tyr) rs201838782 0.00001
NM_001382567.1(STIM1):c.1892G>A (p.Ser631Asn) rs376050145 0.00001
NM_001382567.1(STIM1):c.1901C>T (p.Ala634Val) rs749622475 0.00001
NM_001382567.1(STIM1):c.1912G>A (p.Gly638Ser) rs200324378 0.00001
NM_001382567.1(STIM1):c.1960G>A (p.Asp654Asn) rs765041336 0.00001
NM_001382567.1(STIM1):c.2011C>T (p.Arg671Ter) rs930699942 0.00001
NM_001382567.1(STIM1):c.2012G>A (p.Arg671Gln) rs769001716 0.00001
NM_001382567.1(STIM1):c.2017A>G (p.Thr673Ala) rs1018411314 0.00001
NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala) rs1164327463 0.00001
NM_001382567.1(STIM1):c.205C>T (p.Arg69Cys) rs201061396 0.00001
NM_001382567.1(STIM1):c.2062G>A (p.Asp688Asn) rs142357642 0.00001
NM_001382567.1(STIM1):c.2093C>G (p.Ser698Cys) rs766934652 0.00001
NM_001382567.1(STIM1):c.2102G>A (p.Gly701Asp) rs1355379737 0.00001
NM_001382567.1(STIM1):c.2125A>T (p.Ile709Phe) rs747118337 0.00001
NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr) rs751520286 0.00001
NM_001382567.1(STIM1):c.238A>G (p.Asn80Asp) rs1029278195 0.00001
NM_001382567.1(STIM1):c.295C>T (p.His99Tyr) rs1440304974 0.00001
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe) rs201767533 0.00001
NM_001382567.1(STIM1):c.400G>A (p.Val134Met) rs200351944 0.00001
NM_001382567.1(STIM1):c.463C>T (p.Arg155Trp) rs747832260 0.00001
NM_001382567.1(STIM1):c.498-4A>G rs977105613 0.00001
NM_001382567.1(STIM1):c.551G>A (p.Arg184Gln) rs766441391 0.00001
NM_001382567.1(STIM1):c.580G>T (p.Ala194Ser) rs1371053190 0.00001
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu) rs1242032695 0.00001
NM_001382567.1(STIM1):c.626A>G (p.Asn209Ser) rs763916693 0.00001
NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg) rs201500852 0.00001
NM_001382567.1(STIM1):c.670G>A (p.Val224Met) rs1159817252 0.00001
NM_001382567.1(STIM1):c.704G>A (p.Arg235His) rs764002968 0.00001
NM_001382567.1(STIM1):c.733A>G (p.Met245Val) rs755714206 0.00001
NM_001382567.1(STIM1):c.767A>G (p.Gln256Arg) rs201576757 0.00001
NM_001382567.1(STIM1):c.798C>A (p.His266Gln) rs199615736 0.00001
NM_001382567.1(STIM1):c.818G>A (p.Arg273His) rs765987346 0.00001
NM_001382567.1(STIM1):c.931C>T (p.Arg311Trp) rs770698758 0.00001
NM_001382567.1(STIM1):c.937C>T (p.Arg313Cys) rs1248955977 0.00001
NM_001458.5(FLNC):c.1052C>T (p.Thr351Ile) rs1309343033 0.00001
NM_001458.5(FLNC):c.1054G>A (p.Val352Met) rs773023988 0.00001
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala) rs1324323411 0.00001
NM_001458.5(FLNC):c.1171G>A (p.Val391Met) rs757887021 0.00001
NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala) rs1437029966 0.00001
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser) rs1343684536 0.00001
NM_001458.5(FLNC):c.125T>C (p.Phe42Ser) rs777706683 0.00001
NM_001458.5(FLNC):c.1328C>T (p.Ala443Val) rs1808207788 0.00001
NM_001458.5(FLNC):c.1364C>T (p.Ala455Val) rs777210524 0.00001
NM_001458.5(FLNC):c.1367G>T (p.Gly456Val) rs765622614 0.00001
NM_001458.5(FLNC):c.1412-3del rs765490580 0.00001
NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser) rs747289343 0.00001
NM_001458.5(FLNC):c.1433G>A (p.Arg478His) rs749593461 0.00001
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys) rs1422233407 0.00001
NM_001458.5(FLNC):c.1506G>A (p.Lys502=) rs749823564 0.00001
NM_001458.5(FLNC):c.1508G>A (p.Gly503Asp) rs1483134760 0.00001
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg) rs1807854319 0.00001
NM_001458.5(FLNC):c.1553G>A (p.Gly518Asp) rs1168879153 0.00001
NM_001458.5(FLNC):c.1591G>A (p.Gly531Ser) rs779855512 0.00001
NM_001458.5(FLNC):c.1609T>G (p.Tyr537Asp) rs760471547 0.00001
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp) rs1032152678 0.00001
NM_001458.5(FLNC):c.163A>C (p.Lys55Gln) rs769870285 0.00001
NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr) rs1163059574 0.00001
NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly) rs757878206 0.00001
NM_001458.5(FLNC):c.1771G>A (p.Asp591Asn) rs768829742 0.00001
NM_001458.5(FLNC):c.1782G>A (p.Val594=) rs1317106205 0.00001
NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys) rs758389160 0.00001
NM_001458.5(FLNC):c.185G>A (p.Arg62His) rs1308771065 0.00001
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn) rs912680912 0.00001
NM_001458.5(FLNC):c.1879G>A (p.Asp627Asn) rs1256634062 0.00001
NM_001458.5(FLNC):c.1948C>G (p.Arg650Gly) rs770606675 0.00001
NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr) rs1373245749 0.00001
NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu) rs775292418 0.00001
NM_001458.5(FLNC):c.2063C>T (p.Ala688Val) rs772223832 0.00001
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys) rs1446694237 0.00001
NM_001458.5(FLNC):c.2121+4G>A rs372098008 0.00001
NM_001458.5(FLNC):c.2121+5G>A rs376348610 0.00001
NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr) rs1554398541 0.00001
NM_001458.5(FLNC):c.214G>A (p.Ala72Thr) rs751548628 0.00001
NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser) rs764774528 0.00001
NM_001458.5(FLNC):c.2179C>T (p.Arg727Cys) rs752627571 0.00001
NM_001458.5(FLNC):c.2212C>G (p.His738Asp) rs1236577531 0.00001
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp) rs990718751 0.00001
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln) rs781101985 0.00001
NM_001458.5(FLNC):c.2265+5G>A rs1049500135 0.00001
NM_001458.5(FLNC):c.227T>G (p.Val76Gly) rs1011301530 0.00001
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys) rs373798394 0.00001
NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg) rs1322212555 0.00001
NM_001458.5(FLNC):c.2344A>G (p.Asn782Asp) rs1055062421 0.00001
NM_001458.5(FLNC):c.2353A>G (p.Thr785Ala) rs1808384296 0.00001
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu) rs1471063024 0.00001
NM_001458.5(FLNC):c.2363C>T (p.Thr788Met) rs1010774264 0.00001
NM_001458.5(FLNC):c.2375G>T (p.Ser792Ile) rs1227658348 0.00001
NM_001458.5(FLNC):c.2380G>A (p.Ala794Thr) rs1198975298 0.00001
NM_001458.5(FLNC):c.2389+4C>T rs1057523921 0.00001
NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg) rs748717566 0.00001
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser) rs371398126 0.00001
NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr) rs1386986739 0.00001
NM_001458.5(FLNC):c.2489C>T (p.Thr830Ile) rs1367245869 0.00001
NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp) rs940353148 0.00001
NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys) rs771092335 0.00001
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val) rs534407127 0.00001
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile) rs1324832799 0.00001
NM_001458.5(FLNC):c.263C>A (p.Pro88Gln) rs1807860720 0.00001
NM_001458.5(FLNC):c.2642-3C>T rs1808423104 0.00001
NM_001458.5(FLNC):c.2642G>T (p.Gly881Val) rs377095070 0.00001
NM_001458.5(FLNC):c.2650G>T (p.Val884Phe) rs770379589 0.00001
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg) rs769110628 0.00001
NM_001458.5(FLNC):c.2666A>G (p.His889Arg) rs1808424297 0.00001
NM_001458.5(FLNC):c.2674G>A (p.Val892Met) rs200986712 0.00001
NM_001458.5(FLNC):c.2717T>C (p.Phe906Ser) rs1212936871 0.00001
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp) rs762095761 0.00001
NM_001458.5(FLNC):c.2767A>C (p.Asn923His) rs1420123492 0.00001
NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe) rs1585158690 0.00001
NM_001458.5(FLNC):c.2811+4C>T rs146715204 0.00001
NM_001458.5(FLNC):c.2811+5G>A rs781538211 0.00001
NM_001458.5(FLNC):c.2821G>A (p.Ala941Thr) rs1334463747 0.00001
NM_001458.5(FLNC):c.292G>C (p.Glu98Gln) rs1195481399 0.00001
NM_001458.5(FLNC):c.2930A>G (p.Lys977Arg) rs1808450221 0.00001
NM_001458.5(FLNC):c.2969C>T (p.Thr990Ile) rs933349270 0.00001
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser) rs752053093 0.00001
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu) rs752448040 0.00001
NM_001458.5(FLNC):c.3067G>C (p.Ala1023Pro) rs376107866 0.00001
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His) rs904161285 0.00001
NM_001458.5(FLNC):c.3118A>G (p.Ile1040Val) rs759012932 0.00001
NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu) rs768820218 0.00001
NM_001458.5(FLNC):c.3152C>T (p.Pro1051Leu) rs546130026 0.00001
NM_001458.5(FLNC):c.3266G>A (p.Gly1089Glu) rs1258543242 0.00001
NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser) rs751887771 0.00001
NM_001458.5(FLNC):c.3428C>T (p.Ser1143Leu) rs756192123 0.00001
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn) rs768725458 0.00001
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp) rs760500171 0.00001
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln) rs141199483 0.00001
NM_001458.5(FLNC):c.3511G>A (p.Gly1171Ser) rs769490872 0.00001
NM_001458.5(FLNC):c.352+3C>T rs750255204 0.00001
NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys) rs912926530 0.00001
NM_001458.5(FLNC):c.3589G>A (p.Gly1197Arg) rs753812010 0.00001
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn) rs774968828 0.00001
NM_001458.5(FLNC):c.3785C>T (p.Pro1262Leu) rs757144162 0.00001
NM_001458.5(FLNC):c.3793G>A (p.Val1265Ile) rs368102638 0.00001
NM_001458.5(FLNC):c.3832A>G (p.Arg1278Gly) rs772667448 0.00001
NM_001458.5(FLNC):c.3845C>T (p.Ala1282Val) rs1256859746 0.00001
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu) rs771575526 0.00001
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val) rs1064796931 0.00001
NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser) rs767079356 0.00001
NM_001458.5(FLNC):c.3937C>G (p.Arg1313Gly) rs766330686 0.00001
NM_001458.5(FLNC):c.3956A>G (p.Tyr1319Cys) rs1808556919 0.00001
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met) rs374127804 0.00001
NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile) rs1321855034 0.00001
NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly) rs138193236 0.00001
NM_001458.5(FLNC):c.4066T>G (p.Phe1356Val) rs1276975364 0.00001
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln) rs761881020 0.00001
NM_001458.5(FLNC):c.4117G>A (p.Val1373Met) rs1159994552 0.00001
NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val) rs748008658 0.00001
NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg) rs766513255 0.00001
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu) rs1430761286 0.00001
NM_001458.5(FLNC):c.4219G>A (p.Val1407Met) rs375366821 0.00001
NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn) rs778951900 0.00001
NM_001458.5(FLNC):c.4288+3G>A rs1199950013 0.00001
NM_001458.5(FLNC):c.4295C>T (p.Pro1432Leu) rs1427806742 0.00001
NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala) rs754170282 0.00001
NM_001458.5(FLNC):c.4372A>G (p.Arg1458Gly) rs762257502 0.00001
NM_001458.5(FLNC):c.439A>G (p.Met147Val) rs539316555 0.00001
NM_001458.5(FLNC):c.43G>A (p.Gly15Ser) rs1263243888 0.00001
NM_001458.5(FLNC):c.4421G>A (p.Arg1474Gln) rs376380652 0.00001
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met) rs186904046 0.00001
NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys) rs71581926 0.00001
NM_001458.5(FLNC):c.4483G>A (p.Asp1495Asn) rs748265400 0.00001
NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile) rs532654321 0.00001
NM_001458.5(FLNC):c.4552A>C (p.Lys1518Gln) rs778417108 0.00001
NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys) rs746275035 0.00001
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His) rs374729872 0.00001
NM_001458.5(FLNC):c.4579A>G (p.Ser1527Gly) rs747642919 0.00001
NM_001458.5(FLNC):c.4589A>G (p.Lys1530Arg) rs756526090 0.00001
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn) rs778534100 0.00001
NM_001458.5(FLNC):c.4597G>A (p.Val1533Ile) rs1554399973 0.00001
NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr) rs777526166 0.00001
NM_001458.5(FLNC):c.4702G>A (p.Asp1568Asn) rs1449992399 0.00001
NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr) rs972936640 0.00001
NM_001458.5(FLNC):c.4779T>G (p.Asn1593Lys) rs948081935 0.00001
NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met) rs753742681 0.00001
NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala) rs2643767 0.00001
NM_001458.5(FLNC):c.4831A>T (p.Thr1611Ser) rs770231264 0.00001
NM_001458.5(FLNC):c.4852G>A (p.Gly1618Ser) rs367824027 0.00001
NM_001458.5(FLNC):c.4888G>A (p.Ala1630Thr) rs1479430297 0.00001
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp) rs1460797312 0.00001
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp) rs762493974 0.00001
NM_001458.5(FLNC):c.4977G>C (p.Gln1659His) rs1297786780 0.00001
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu) rs1385628312 0.00001
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu) rs748879903 0.00001
NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys) rs773260834 0.00001
NM_001458.5(FLNC):c.5181C>A (p.Asn1727Lys) rs764500516 0.00001
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser) rs1380018208 0.00001
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys) rs1585165163 0.00001
NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser) rs892618706 0.00001
NM_001458.5(FLNC):c.5291C>A (p.Thr1764Lys) rs1585165259 0.00001
NM_001458.5(FLNC):c.5293C>T (p.His1765Tyr) rs1263073740 0.00001
NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg) rs778860499 0.00001
NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser) rs370823820 0.00001
NM_001458.5(FLNC):c.5332A>G (p.Met1778Val) rs1347090077 0.00001
NM_001458.5(FLNC):c.5341A>G (p.Met1781Val) rs540112341 0.00001
NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile) rs1035403005 0.00001
NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro) rs1243600050 0.00001
NM_001458.5(FLNC):c.5417C>T (p.Ser1806Leu) rs1224086145 0.00001
NM_001458.5(FLNC):c.5440A>G (p.Ile1814Val) rs1168575419 0.00001
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn) rs1198641168 0.00001
NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr) rs373146637 0.00001
NM_001458.5(FLNC):c.5451C>G (p.Asn1817Lys) rs762869314 0.00001
NM_001458.5(FLNC):c.5508G>A (p.Met1836Ile) rs1175006964 0.00001
NM_001458.5(FLNC):c.5524G>A (p.Gly1842Ser) rs756880490 0.00001
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr) rs751937921 0.00001
NM_001458.5(FLNC):c.5788G>A (p.Val1930Met) rs370076553 0.00001
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile) rs376413798 0.00001
NM_001458.5(FLNC):c.5842+6G>A rs1010018310 0.00001
NM_001458.5(FLNC):c.5872A>T (p.Asn1958Tyr) rs567595947 0.00001
NM_001458.5(FLNC):c.590A>G (p.Asn197Ser) rs1008787584 0.00001
NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys) rs1288953274 0.00001
NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln) rs1346364708 0.00001
NM_001458.5(FLNC):c.59A>C (p.Glu20Ala) rs1478918808 0.00001
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln) rs1254027067 0.00001
NM_001458.5(FLNC):c.6022A>G (p.Lys2008Glu) rs772621794 0.00001
NM_001458.5(FLNC):c.6043G>A (p.Val2015Met) rs775231810 0.00001
NM_001458.5(FLNC):c.6049G>A (p.Val2017Met) rs1019545678 0.00001
NM_001458.5(FLNC):c.6068A>G (p.His2023Arg) rs1808882683 0.00001
NM_001458.5(FLNC):c.606C>G (p.Leu202=) rs1246016210 0.00001
NM_001458.5(FLNC):c.6094C>G (p.Leu2032Val) rs773543205 0.00001
NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu) rs1261109029 0.00001
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His) rs776520014 0.00001
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr) rs780762913 0.00001
NM_001458.5(FLNC):c.6271A>G (p.Met2091Val) rs1438491751 0.00001
NM_001458.5(FLNC):c.6302G>A (p.Cys2101Tyr) rs760120511 0.00001
NM_001458.5(FLNC):c.6328A>G (p.Ile2110Val) rs1236042892 0.00001
NM_001458.5(FLNC):c.6388G>A (p.Gly2130Ser) rs375778608 0.00001
NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys) rs757511370 0.00001
NM_001458.5(FLNC):c.6398G>A (p.Arg2133His) rs1808925531 0.00001
NM_001458.5(FLNC):c.6484+6A>T rs764061858 0.00001
NM_001458.5(FLNC):c.6517C>T (p.Arg2173Cys) rs767250474 0.00001
NM_001458.5(FLNC):c.6529A>G (p.Thr2177Ala) rs1285672775 0.00001
NM_001458.5(FLNC):c.652G>A (p.Ala218Thr) rs777415462 0.00001
NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys) rs747336635 0.00001
NM_001458.5(FLNC):c.655C>T (p.Arg219Trp) rs931787034 0.00001
NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys) rs1474675847 0.00001
NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln) rs760535041 0.00001
NM_001458.5(FLNC):c.6607C>T (p.Arg2203Cys) rs758838323 0.00001
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His) rs1063262 0.00001
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys) rs1476564683 0.00001
NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser) rs1431110219 0.00001
NM_001458.5(FLNC):c.6643G>A (p.Gly2215Arg) rs1310201356 0.00001
NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val) rs370839908 0.00001
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys) rs1265897548 0.00001
NM_001458.5(FLNC):c.6728G>A (p.Gly2243Asp) rs1311623651 0.00001
NM_001458.5(FLNC):c.6754G>A (p.Ala2252Thr) rs963272191 0.00001
NM_001458.5(FLNC):c.6849G>A (p.Met2283Ile) rs1375490850 0.00001
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys) rs571239463 0.00001
NM_001458.5(FLNC):c.6895G>A (p.Gly2299Ser) rs756870838 0.00001
NM_001458.5(FLNC):c.699+5A>G rs1808129501 0.00001
NM_001458.5(FLNC):c.6997+4A>G rs1227552125 0.00001
NM_001458.5(FLNC):c.7030G>A (p.Ala2344Thr) rs529917784 0.00001
NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg) rs751765487 0.00001
NM_001458.5(FLNC):c.7135+6C>T rs774739675 0.00001
NM_001458.5(FLNC):c.7151C>T (p.Ser2384Phe) rs1219809283 0.00001
NM_001458.5(FLNC):c.7198C>G (p.Pro2400Ala) rs1390223951 0.00001
NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr) rs376257910 0.00001
NM_001458.5(FLNC):c.7225C>T (p.Arg2409Cys) rs1244377387 0.00001
NM_001458.5(FLNC):c.730A>G (p.Asn244Asp) rs1020489966 0.00001
NM_001458.5(FLNC):c.731A>G (p.Asn244Ser) rs773579752 0.00001
NM_001458.5(FLNC):c.7324G>T (p.Ala2442Ser) rs1160639957 0.00001
NM_001458.5(FLNC):c.7432A>G (p.Ile2478Val) rs1430261045 0.00001
NM_001458.5(FLNC):c.748G>A (p.Val250Ile) rs1562991895 0.00001
NM_001458.5(FLNC):c.7554C>T (p.Gly2518=) rs761216494 0.00001
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser) rs746969946 0.00001
NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile) rs373973635 0.00001
NM_001458.5(FLNC):c.7580T>C (p.Ile2527Thr) rs749891076 0.00001
NM_001458.5(FLNC):c.7582G>A (p.Val2528Met) rs1317229834 0.00001
NM_001458.5(FLNC):c.7588A>G (p.Thr2530Ala) rs760694025 0.00001
NM_001458.5(FLNC):c.7604C>T (p.Ser2535Leu) rs201895675 0.00001
NM_001458.5(FLNC):c.7647G>T (p.Gln2549His) rs771689118 0.00001
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly) rs1040102987 0.00001
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp) rs199519281 0.00001
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser) rs1381739439 0.00001
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser) rs566747845 0.00001
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe) rs746685461 0.00001
NM_001458.5(FLNC):c.7834G>A (p.Glu2612Lys) rs1183050599 0.00001
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met) rs745434129 0.00001
NM_001458.5(FLNC):c.7861C>T (p.Arg2621Trp) rs1411832198 0.00001
NM_001458.5(FLNC):c.7903G>A (p.Ala2635Thr) rs1009545372 0.00001
NM_001458.5(FLNC):c.7922G>A (p.Arg2641Gln) rs760857362 0.00001
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser) rs755387909 0.00001
NM_001458.5(FLNC):c.802G>A (p.Val268Ile) rs1210929657 0.00001
NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn) rs1377893206 0.00001
NM_001458.5(FLNC):c.806G>A (p.Arg269Gln) rs1585152863 0.00001
NM_001458.5(FLNC):c.8089A>G (p.Thr2697Ala) rs1292665355 0.00001
NM_001458.5(FLNC):c.8114T>C (p.Ile2705Thr) rs553714847 0.00001
NM_001458.5(FLNC):c.8137G>A (p.Glu2713Lys) rs758271134 0.00001
NM_001458.5(FLNC):c.8170G>T (p.Val2724Phe) rs1220183666 0.00001
NM_001458.5(FLNC):c.842A>G (p.Tyr281Cys) rs1202164075 0.00001
NM_001458.5(FLNC):c.856G>A (p.Glu286Lys) rs1274480597 0.00001
NM_001458.5(FLNC):c.905C>T (p.Thr302Met) rs776362922 0.00001
NM_001458.5(FLNC):c.943G>A (p.Glu315Lys) rs756104407 0.00001
NM_001458.5(FLNC):c.969+4T>G rs953435954 0.00001
NM_001458.5(FLNC):c.970-3T>C rs1250140261 0.00001
NM_001843.4(CNTN1):c.1228+4A>G rs1183511907 0.00001
NM_001843.4(CNTN1):c.1229C>T (p.Ala410Val) rs896129454 0.00001
NM_001843.4(CNTN1):c.1285G>T (p.Gly429Cys) rs1465154174 0.00001
NM_001843.4(CNTN1):c.1358A>G (p.Glu453Gly) rs1946191168 0.00001
NM_001843.4(CNTN1):c.1508-3T>C rs768212555 0.00001
NM_001843.4(CNTN1):c.1508A>C (p.Asp503Ala) rs199754941 0.00001
NM_001843.4(CNTN1):c.1583C>T (p.Ala528Val) rs779551448 0.00001
NM_001843.4(CNTN1):c.1712G>A (p.Arg571Gln) rs142561108 0.00001
NM_001843.4(CNTN1):c.1813G>A (p.Gly605Ser) rs1172211353 0.00001
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp) rs767086250 0.00001
NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe) rs755364145 0.00001
NM_001843.4(CNTN1):c.1876C>T (p.Arg626Cys) rs563858684 0.00001
NM_001843.4(CNTN1):c.1912A>G (p.Thr638Ala) rs778593974 0.00001
NM_001843.4(CNTN1):c.1950A>C (p.Lys650Asn) rs1393458031 0.00001
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met) rs777561409 0.00001
NM_001843.4(CNTN1):c.2039G>A (p.Arg680His) rs770506056 0.00001
NM_001843.4(CNTN1):c.2041G>A (p.Val681Met) rs760051219 0.00001
NM_001843.4(CNTN1):c.2107G>A (p.Gly703Ser) rs370161709 0.00001
NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu) rs1033656256 0.00001
NM_001843.4(CNTN1):c.2395G>A (p.Ala799Thr) rs1004191780 0.00001
NM_001843.4(CNTN1):c.2495T>C (p.Val832Ala) rs780316987 0.00001
NM_001843.4(CNTN1):c.2527C>T (p.Arg843Trp) rs1168401868 0.00001
NM_001843.4(CNTN1):c.2594C>T (p.Ser865Leu) rs761108267 0.00001
NM_001843.4(CNTN1):c.2626C>G (p.Gln876Glu) rs777846543 0.00001
NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn) rs751205601 0.00001
NM_001843.4(CNTN1):c.2759G>A (p.Arg920His) rs761797408 0.00001
NM_001843.4(CNTN1):c.27T>A (p.His9Gln) rs745850349 0.00001
NM_001843.4(CNTN1):c.2813C>T (p.Thr938Met) rs141213968 0.00001
NM_001843.4(CNTN1):c.2998C>T (p.Pro1000Ser) rs771084573 0.00001
NM_001843.4(CNTN1):c.3010G>A (p.Gly1004Ser) rs745975456 0.00001
NM_001843.4(CNTN1):c.3047T>C (p.Leu1016Ser) rs766058382 0.00001
NM_001843.4(CNTN1):c.304A>C (p.Asn102His) rs749864561 0.00001
NM_001843.4(CNTN1):c.398G>A (p.Gly133Glu) rs755559017 0.00001
NM_001843.4(CNTN1):c.410C>T (p.Pro137Leu) rs184703177 0.00001
NM_001843.4(CNTN1):c.541A>G (p.Ile181Val) rs1481545617 0.00001
NM_001843.4(CNTN1):c.564T>A (p.Phe188Leu) rs775149768 0.00001
NM_001843.4(CNTN1):c.61+5G>A rs1944916936 0.00001
NM_001843.4(CNTN1):c.626A>T (p.Tyr209Phe) rs1229864034 0.00001
NM_001843.4(CNTN1):c.653T>C (p.Ile218Thr) rs1379159066 0.00001
NM_001843.4(CNTN1):c.726T>A (p.Ala242=) rs1180064251 0.00001
NM_001843.4(CNTN1):c.733G>A (p.Val245Ile) rs1478025106 0.00001
NM_001843.4(CNTN1):c.773A>G (p.Asn258Ser) rs139270901 0.00001
NM_001843.4(CNTN1):c.862A>G (p.Ile288Val) rs1458269504 0.00001
NM_001843.4(CNTN1):c.869C>T (p.Thr290Ile) rs1363438018 0.00001
NM_001843.4(CNTN1):c.901C>G (p.Gln301Glu) rs145955800 0.00001
NM_001843.4(CNTN1):c.985+6T>C rs202118617 0.00001
NM_001848.3(COL6A1):c.1002+6T>C rs13052179 0.00001
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr) rs2077773578 0.00001
NM_001848.3(COL6A1):c.1182+5G>C rs1473206283 0.00001
NM_001848.3(COL6A1):c.1236+3G>A rs968780030 0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695 0.00001
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr) rs1436272876 0.00001
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser) rs2077714741 0.00001
NM_001848.3(COL6A1):c.1375C>T (p.Pro459Ser) rs1235742792 0.00001
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly) rs2077813854 0.00001
NM_001848.3(COL6A1):c.1575+4A>G rs1306019240 0.00001
NM_001848.3(COL6A1):c.1575+6T>C rs745511169 0.00001
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys) rs2077819024 0.00001
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser) rs771012175 0.00001
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521 0.00001
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys) rs887316220 0.00001
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser) rs778884385 0.00001
NM_001848.3(COL6A1):c.1740+3G>C rs1314703448 0.00001
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala) rs1462355816 0.00001
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe) rs368925441 0.00001
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=) rs750677675 0.00001
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly) rs1255698056 0.00001
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln) rs766956281 0.00001
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg) rs1297620940 0.00001
NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser) rs750677189 0.00001
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu) rs936641232 0.00001
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu) rs1171160953 0.00001
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro) rs2077725343 0.00001
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr) rs1258934082 0.00001
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys) rs1305504243 0.00001
NM_001848.3(COL6A1):c.903+5G>A rs759468291 0.00001
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser) rs2078489585 0.00001
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser) rs1218992420 0.00001
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys) rs1473389233 0.00001
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=) rs762160379 0.00001
NM_001849.4(COL6A2):c.1117-3C>T rs772428654 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser) rs1328612494 0.00001
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr) rs760573983 0.00001
NM_001849.4(COL6A2):c.12C>T (p.Gly4=) rs568730672 0.00001
NM_001849.4(COL6A2):c.1357C>T (p.Arg453Cys) rs781742477 0.00001
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr) rs144735844 0.00001
NM_001849.4(COL6A2):c.1395+6G>A rs886042454 0.00001
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln) rs746541506 0.00001
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser) rs369945453 0.00001
NM_001849.4(COL6A2):c.1458+3C>T rs794727186 0.00001
NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe) rs755539822 0.00001
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser) rs553174831 0.00001
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His) rs770222615 0.00001
NM_001849.4(COL6A2):c.1521+5G>A rs760353646 0.00001
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser) rs780177226 0.00001
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=) rs552356380 0.00001
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser) rs1307667500 0.00001
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val) rs376303610 0.00001
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu) rs370775804 0.00001
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser) rs750533442 0.00001
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg) rs917875281 0.00001
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala) rs1487977724 0.00001
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr) rs1420375071 0.00001
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=) rs778401356 0.00001
NM_001849.4(COL6A2):c.1817-7_1817-6insA rs759572010 0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607 0.00001
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr) rs766374821 0.00001
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala) rs760227367 0.00001
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys) rs139627965 0.00001
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His) rs749451502 0.00001
NM_001849.4(COL6A2):c.2221G>A (p.Asp741Asn) rs1348937334 0.00001
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val) rs761863452 0.00001
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu) rs750009012 0.00001
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser) rs773338647 0.00001
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro) rs982360912 0.00001
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg) rs727502834 0.00001
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=) rs774494973 0.00001
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser) rs1044778936 0.00001
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala) rs886044025 0.00001
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu) rs775748752 0.00001
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr) rs11554667 0.00001
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu) rs727502835 0.00001
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys) rs932129947 0.00001
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=) rs377389081 0.00001
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys) rs775590810 0.00001
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp) rs752291709 0.00001
NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser) rs780908409 0.00001
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser) rs1228163562 0.00001
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met) rs771341779 0.00001
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn) rs773974101 0.00001
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val) rs201842315 0.00001
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser) rs1337272208 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922 0.00001
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr) rs777494468 0.00001
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser) rs370593484 0.00001
NM_001849.4(COL6A2):c.2948A>T (p.Asp983Val) rs754518986 0.00001
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu) rs1555877365 0.00001
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn) rs750682710 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His) rs751512548 0.00001
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=) rs751470018 0.00001
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp) rs776732203 0.00001
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn) rs969934621 0.00001
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys) rs557545831 0.00001
NM_001849.4(COL6A2):c.389G>A (p.Arg130His) rs200387819 0.00001
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val) rs886044462 0.00001
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr) rs1454146707 0.00001
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile) rs886044102 0.00001
NM_001849.4(COL6A2):c.550G>T (p.Gly184Cys) rs766523982 0.00001
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg) rs751632108 0.00001
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn) rs776631856 0.00001
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp) rs779287707 0.00001
NM_001849.4(COL6A2):c.697C>T (p.Arg233Cys) rs1379543505 0.00001
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile) rs752359061 0.00001
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu) rs777108595 0.00001
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys) rs1159588931 0.00001
NM_001849.4(COL6A2):c.901-3C>T rs112317259 0.00001
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn) rs759838639 0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser) rs762882543 0.00001
NM_001927.4(DES):c.1023+6T>G rs1039179103 0.00001
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) rs763903197 0.00001
NM_001927.4(DES):c.1038G>A (p.Met346Ile) rs778340812 0.00001
NM_001927.4(DES):c.1047G>A (p.Met349Ile) rs375005961 0.00001
NM_001927.4(DES):c.1079C>T (p.Ala360Val) rs141592925 0.00001
NM_001927.4(DES):c.10G>A (p.Ala4Thr) rs1239304442 0.00001
NM_001927.4(DES):c.1103C>T (p.Ala368Val) rs371830218 0.00001
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) rs1475674849 0.00001
NM_001927.4(DES):c.1142T>C (p.Met381Thr) rs779749720 0.00001
NM_001927.4(DES):c.1147C>T (p.Arg383Cys) rs748945548 0.00001
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.1156C>T (p.Arg386Cys) rs369765867 0.00001
NM_001927.4(DES):c.1189G>T (p.Ala397Ser) rs727502951 0.00001
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) rs1057520275 0.00001
NM_001927.4(DES):c.1250A>G (p.Asn417Ser) rs376141178 0.00001
NM_001927.4(DES):c.1258A>C (p.Ile420Leu) rs1427557970 0.00001
NM_001927.4(DES):c.1300G>A (p.Glu434Lys) rs952020807 0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) rs541585670 0.00001
NM_001927.4(DES):c.1404A>C (p.Glu468Asp) rs397516691 0.00001
NM_001927.4(DES):c.146T>C (p.Val49Ala) rs794728989 0.00001
NM_001927.4(DES):c.155G>C (p.Arg52Pro) rs1372689272 0.00001
NM_001927.4(DES):c.209G>C (p.Arg70Pro) rs933438188 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.280G>A (p.Ala94Thr) rs1163703259 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001927.4(DES):c.28C>T (p.Arg10Cys) rs1196125127 0.00001
NM_001927.4(DES):c.298G>A (p.Glu100Lys) rs1434605523 0.00001
NM_001927.4(DES):c.29G>A (p.Arg10His) rs757839952 0.00001
NM_001927.4(DES):c.313C>T (p.Arg105Cys) rs794728993 0.00001
NM_001927.4(DES):c.328G>C (p.Val110Leu) rs373081285 0.00001
NM_001927.4(DES):c.371A>G (p.Glu124Gly) rs564121737 0.00001
NM_001927.4(DES):c.469G>A (p.Glu157Lys) rs1265299630 0.00001
NM_001927.4(DES):c.488G>C (p.Arg163Pro) rs1457012198 0.00001
NM_001927.4(DES):c.49A>T (p.Thr17Ser) rs1342928312 0.00001
NM_001927.4(DES):c.517C>A (p.Arg173Ser) rs752944882 0.00001
NM_001927.4(DES):c.524G>A (p.Arg175His) rs878854472 0.00001
NM_001927.4(DES):c.545A>C (p.Asn182Thr) rs1358211194 0.00001
NM_001927.4(DES):c.560T>G (p.Leu187Arg) rs1248833348 0.00001
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151 0.00001
NM_001927.4(DES):c.58G>A (p.Gly20Arg) rs759306707 0.00001
NM_001927.4(DES):c.593T>C (p.Ile198Thr) rs773271116 0.00001
NM_001927.4(DES):c.603G>C (p.Lys201Asn) rs765376573 0.00001
NM_001927.4(DES):c.615G>C (p.Glu205Asp) rs1295010624 0.00001
NM_001927.4(DES):c.65C>G (p.Pro22Arg) rs748158450 0.00001
NM_001927.4(DES):c.664C>T (p.Arg222Cys) rs374687448 0.00001
NM_001927.4(DES):c.66G>A (p.Pro22=) rs767502653 0.00001
NM_001927.4(DES):c.679C>T (p.Arg227Cys) rs767743962 0.00001
NM_001927.4(DES):c.694C>T (p.Leu232Phe) rs764764823 0.00001
NM_001927.4(DES):c.710C>T (p.Ala237Val) rs374144840 0.00001
NM_001927.4(DES):c.727C>T (p.His243Tyr) rs769647148 0.00001
NM_001927.4(DES):c.746A>C (p.Glu249Ala) rs1256488465 0.00001
NM_001927.4(DES):c.794T>C (p.Met265Thr) rs1457398926 0.00001
NM_001927.4(DES):c.797C>T (p.Ser266Phe) rs1316058461 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.817G>A (p.Ala273Thr) rs770258461 0.00001
NM_001927.4(DES):c.853G>A (p.Ala285Thr) rs876657771 0.00001
NM_001927.4(DES):c.883T>G (p.Trp295Gly) rs794728986 0.00001
NM_001927.4(DES):c.897+4G>A rs1329171337 0.00001
NM_001927.4(DES):c.943C>T (p.Arg315Cys) rs748742357 0.00001
NM_001927.4(DES):c.974G>A (p.Arg325Gln) rs766035912 0.00001
NM_002469.3(MYF6):c.17T>G (p.Phe6Cys) rs1346404270 0.00001
NM_002469.3(MYF6):c.193C>T (p.Pro65Ser) rs1187510400 0.00001
NM_002469.3(MYF6):c.46G>A (p.Asp16Asn) rs749523828 0.00001
NM_002469.3(MYF6):c.520-3C>T rs1035326012 0.00001
NM_002469.3(MYF6):c.649C>T (p.Arg217Ter) rs779208935 0.00001
NM_002469.3(MYF6):c.91T>C (p.Ser31Pro) rs1443837642 0.00001
NM_003283.6(TNNT1):c.128+5G>A rs769428135 0.00001
NM_003283.6(TNNT1):c.136G>A (p.Val46Met) rs778199645 0.00001
NM_003283.6(TNNT1):c.202C>T (p.Arg68Cys) rs1317953556 0.00001
NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly) rs1308212644 0.00001
NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr) rs1050413432 0.00001
NM_003283.6(TNNT1):c.310-8T>A rs1322654025 0.00001
NM_003283.6(TNNT1):c.409G>A (p.Glu137Lys) rs1266457771 0.00001
NM_003283.6(TNNT1):c.515G>A (p.Arg172His) rs749691780 0.00001
NM_003283.6(TNNT1):c.530C>T (p.Thr177Met) rs781338289 0.00001
NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp) rs757227738 0.00001
NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys) rs12976760 0.00001
NM_003283.6(TNNT1):c.565C>T (p.Arg189Cys) rs780429876 0.00001
NM_003283.6(TNNT1):c.592A>G (p.Met198Val) rs757782018 0.00001
NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln) rs765133367 0.00001
NM_003283.6(TNNT1):c.616C>T (p.Arg206Trp) rs748222508 0.00001
NM_003283.6(TNNT1):c.631C>A (p.Pro211Thr) rs766147911 0.00001
NM_003283.6(TNNT1):c.644C>T (p.Pro215Leu) rs1243419099 0.00001
NM_003283.6(TNNT1):c.71A>G (p.Glu24Gly) rs1391760195 0.00001
NM_003283.6(TNNT1):c.723G>A (p.Met241Ile) rs2085298945 0.00001
NM_003283.6(TNNT1):c.757G>A (p.Val253Met) rs572119503 0.00001
NM_003283.6(TNNT1):c.77C>A (p.Pro26His) rs1049167818 0.00001
NM_003283.6(TNNT1):c.788A>G (p.Lys263Arg) rs377276702 0.00001
NM_003283.6(TNNT1):c.817G>A (p.Val273Ile) rs774212109 0.00001
NM_003283.6(TNNT1):c.826C>T (p.Arg276Cys) rs201409131 0.00001
NM_003319.4(TTN):c.16349dup (p.Phe5451fs) rs752856716 0.00001
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr) rs1401459296 0.00001
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe) rs1553999043 0.00001
NM_004168.4(SDHA):c.101A>G (p.His34Arg) rs757478250 0.00001
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe) rs1735563548 0.00001
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp) rs760598746 0.00001
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile) rs1560994934 0.00001
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser) rs758817818 0.00001
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys) rs766779919 0.00001
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile) rs1440814662 0.00001
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile) rs372738835 0.00001
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu) rs780941330 0.00001
NM_004168.4(SDHA):c.10G>T (p.Val4Phe) rs778069799 0.00001
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp) rs377283167 0.00001
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro) rs1433477205 0.00001
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala) rs1224187912 0.00001
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met) rs777420907 0.00001
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser) rs1272640628 0.00001
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) rs776888362 0.00001
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile) rs773218958 0.00001
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val) rs1316310818 0.00001
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met) rs757251714 0.00001
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr) rs745798689 0.00001
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln) rs878854625 0.00001
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu) rs878854625 0.00001
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser) rs769936006 0.00001
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln) rs1061520 0.00001
NM_004168.4(SDHA):c.1220A>G (p.His407Arg) rs374087393 0.00001
NM_004168.4(SDHA):c.1225A>C (p.Asn409His) rs1404377989 0.00001
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) rs768055345 0.00001
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys) rs528628545 0.00001
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys) rs747557411 0.00001
NM_004168.4(SDHA):c.1260+4A>G rs1060503702 0.00001
NM_004168.4(SDHA):c.1276A>C (p.Asn426His) rs1735781689 0.00001
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr) rs1579379865 0.00001
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu) rs747488969 0.00001
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser) rs529198317 0.00001
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His) rs772729820 0.00001
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu) rs1169286790 0.00001
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe) rs373021394 0.00001
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala) rs767452676 0.00001
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp) rs752461029 0.00001
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys) rs143798161 0.00001
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr) rs748567636 0.00001
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser) rs770506764 0.00001
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu) rs146990772 0.00001
NM_004168.4(SDHA):c.1445C>A (p.Pro482His) rs759661610 0.00001
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val) rs1224049828 0.00001
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr) rs1060503706 0.00001
NM_004168.4(SDHA):c.1459A>C (p.Asn487His) rs1208182306 0.00001
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala) rs754324916 0.00001
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp) rs757663708 0.00001
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu) rs1251348764 0.00001
NM_004168.4(SDHA):c.1551G>A (p.Lys517=) rs772822136 0.00001
NM_004168.4(SDHA):c.1552-3C>T rs1222778933 0.00001
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys) rs138723511 0.00001
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His) rs1339009840 0.00001
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys) rs778670859 0.00001
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg) rs1338347881 0.00001
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn) rs1267429398 0.00001
NM_004168.4(SDHA):c.1687G>A (p.Val563Met) rs1736814459 0.00001
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val) rs142936520 0.00001
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) rs1445945083 0.00001
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys) rs372707443 0.00001
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val) rs367621815 0.00001
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) rs1302547655 0.00001
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly) rs1126557 0.00001
NM_004168.4(SDHA):c.1795-3C>G rs544544409 0.00001
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp) rs878854630 0.00001
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn) rs771593214 0.00001
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro) rs1183122120 0.00001
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703 0.00001
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala) rs1392791825 0.00001
NM_004168.4(SDHA):c.1908+5G>C rs759574062 0.00001
NM_004168.4(SDHA):c.1908+6T>C rs1359050908 0.00001
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile) rs370133236 0.00001
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val) rs1126697 0.00001
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg) rs1060503717 0.00001
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser) rs1420345359 0.00001
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser) rs1485747007 0.00001
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly) rs60587941 0.00001
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr) rs1554002911 0.00001
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln) rs751645963 0.00001
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp) rs878854631 0.00001
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp) rs776218604 0.00001
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile) rs756543943 0.00001
NM_004168.4(SDHA):c.312+5G>A rs1384659459 0.00001
NM_004168.4(SDHA):c.313-5T>G rs1060503705 0.00001
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser) rs758086385 0.00001
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro) rs786205209 0.00001
NM_004168.4(SDHA):c.340A>G (p.Met114Val) rs933414586 0.00001
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys) rs935241830 0.00001
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn) rs780654623 0.00001
NM_004168.4(SDHA):c.379G>A (p.Val127Met) rs777600956 0.00001
NM_004168.4(SDHA):c.420C>G (p.His140Gln) rs747232441 0.00001
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys) rs1377816261 0.00001
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu) rs765784494 0.00001
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser) rs1734963793 0.00001
NM_004168.4(SDHA):c.451G>A (p.Val151Ile) rs143148642 0.00001
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly) rs777873911 0.00001
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp) rs569384870 0.00001
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu) rs775074528 0.00001
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile) rs375067326 0.00001
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn) rs1734989215 0.00001
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln) rs763578369 0.00001
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys) rs776193478 0.00001
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr) rs1553997783 0.00001
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg) rs1305547879 0.00001
NM_004168.4(SDHA):c.560A>G (p.His187Arg) rs1236616384 0.00001
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg) rs908267345 0.00001
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr) rs1393298155 0.00001
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln) rs762956849 0.00001
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr) rs770407681 0.00001
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu) rs878854633 0.00001
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln) rs762108779 0.00001
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys) rs1235961098 0.00001
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly) rs752144637 0.00001
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe) rs778256616 0.00001
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) rs878854635 0.00001
NM_004168.4(SDHA):c.707C>T (p.Ala236Val) rs1060503703 0.00001
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu) rs760106352 0.00001
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg) rs764534044 0.00001
NM_004168.4(SDHA):c.730A>G (p.Ile244Val) rs1162393515 0.00001
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr) rs1318566276 0.00001
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys) rs1126411 0.00001
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala) rs1409070000 0.00001
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys) rs1579397049 0.00001
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys) rs143484394 0.00001
NM_004168.4(SDHA):c.782G>A (p.Arg261His) rs769228279 0.00001
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu) rs1237513803 0.00001
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) rs765611464 0.00001
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr) rs1178613645 0.00001
NM_004168.4(SDHA):c.835A>G (p.Met279Val) rs755913710 0.00001
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe) rs747045191 0.00001
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp) rs140797184 0.00001
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro) rs1333787672 0.00001
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu) rs1436200566 0.00001
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser) rs1224049075 0.00001
NM_004168.4(SDHA):c.901T>C (p.Tyr301His) rs1060503713 0.00001
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) rs182055219 0.00001
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr) rs878854638 0.00001
NM_004168.4(SDHA):c.919A>G (p.Ile307Val) rs200632016 0.00001
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780 0.00001
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile) rs751896104 0.00001
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp) rs1735554095 0.00001
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln) rs138265892 0.00001
NM_004168.4(SDHA):c.997G>A (p.Val333Ile) rs1062468 0.00001
NM_004281.4(BAG3):c.1012C>T (p.Pro338Ser) rs1319754171 0.00001
NM_004281.4(BAG3):c.101C>T (p.Thr34Ile) rs1387616851 0.00001
NM_004281.4(BAG3):c.1027C>T (p.Arg343Cys) rs768613403 0.00001
NM_004281.4(BAG3):c.1035G>C (p.Glu345Asp) rs1057522401 0.00001
NM_004281.4(BAG3):c.103G>A (p.Gly35Ser) rs200072558 0.00001
NM_004281.4(BAG3):c.1058A>G (p.Gln353Arg) rs764432849 0.00001
NM_004281.4(BAG3):c.1085T>C (p.Val362Ala) rs200812717 0.00001
NM_004281.4(BAG3):c.109C>T (p.Pro37Ser) rs764177199 0.00001
NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg) rs786205347 0.00001
NM_004281.4(BAG3):c.1109C>T (p.Pro370Leu) rs746602007 0.00001
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr) rs876657745 0.00001
NM_004281.4(BAG3):c.1139C>T (p.Pro380Leu) rs769467386 0.00001
NM_004281.4(BAG3):c.1141T>C (p.Ser381Pro) rs763427403 0.00001
NM_004281.4(BAG3):c.1160C>T (p.Pro387Leu) rs1060502816 0.00001
NM_004281.4(BAG3):c.1168G>A (p.Val390Met) rs1847242044 0.00001
NM_004281.4(BAG3):c.1169T>C (p.Val390Ala) rs1421913723 0.00001
NM_004281.4(BAG3):c.1184G>A (p.Arg395Lys) rs111787446 0.00001
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly) rs775153939 0.00001
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile) rs727502900 0.00001
NM_004281.4(BAG3):c.1231G>A (p.Gly411Arg) rs750627409 0.00001
NM_004281.4(BAG3):c.1250C>A (p.Pro417Gln) rs751558069 0.00001
NM_004281.4(BAG3):c.1288G>A (p.Glu430Lys) rs774713887 0.00001
NM_004281.4(BAG3):c.1289A>T (p.Glu430Val) rs748744340 0.00001
NM_004281.4(BAG3):c.1323C>A (p.Asn441Lys) rs1325704409 0.00001
NM_004281.4(BAG3):c.1407C>A (p.Asp469Glu) rs1381722756 0.00001
NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys) rs775645671 0.00001
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser) rs570294713 0.00001
NM_004281.4(BAG3):c.1469T>C (p.Ile490Thr) rs1251253467 0.00001
NM_004281.4(BAG3):c.1477A>G (p.Lys493Glu) rs1362214797 0.00001
NM_004281.4(BAG3):c.1570A>G (p.Ile524Val) rs764925485 0.00001
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_004281.4(BAG3):c.1582G>C (p.Gly528Arg) rs752007619 0.00001
NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly) rs369690617 0.00001
NM_004281.4(BAG3):c.1623T>A (p.Asn541Lys) rs774573497 0.00001
NM_004281.4(BAG3):c.1624G>T (p.Ala542Ser) rs760485616 0.00001
NM_004281.4(BAG3):c.1628_1633del (p.Glu543_Pro545delinsAla) rs1847251591 0.00001
NM_004281.4(BAG3):c.1637A>T (p.His546Leu) rs1334550097 0.00001
NM_004281.4(BAG3):c.1639A>C (p.Thr547Pro) rs1057523768 0.00001
NM_004281.4(BAG3):c.1642G>C (p.Glu548Gln) rs1335289497 0.00001
NM_004281.4(BAG3):c.164C>T (p.Pro55Leu) rs1277623691 0.00001
NM_004281.4(BAG3):c.1664C>A (p.Thr555Lys) rs1322157514 0.00001
NM_004281.4(BAG3):c.1685C>T (p.Pro562Leu) rs1188545828 0.00001
NM_004281.4(BAG3):c.1702A>G (p.Thr568Ala) rs1407009048 0.00001
NM_004281.4(BAG3):c.1720G>T (p.Ala574Ser) rs779083262 0.00001
NM_004281.4(BAG3):c.1724C>T (p.Pro575Leu) rs748233260 0.00001
NM_004281.4(BAG3):c.179A>G (p.Lys60Arg) rs1212877946 0.00001
NM_004281.4(BAG3):c.181G>A (p.Glu61Lys) rs187116556 0.00001
NM_004281.4(BAG3):c.283C>G (p.Pro95Ala) rs727502898 0.00001
NM_004281.4(BAG3):c.299A>G (p.His100Arg) rs1847122709 0.00001
NM_004281.4(BAG3):c.305G>A (p.Gly102Asp) rs1554877016 0.00001
NM_004281.4(BAG3):c.307G>A (p.Ala103Thr) rs774085716 0.00001
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys) rs566015884 0.00001
NM_004281.4(BAG3):c.322G>A (p.Val108Met) rs730880053 0.00001
NM_004281.4(BAG3):c.325C>T (p.His109Tyr) rs753302310 0.00001
NM_004281.4(BAG3):c.337G>A (p.Val113Ile) rs781093275 0.00001
NM_004281.4(BAG3):c.341A>G (p.Tyr114Cys) rs769813479 0.00001
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser) rs774241343 0.00001
NM_004281.4(BAG3):c.348G>C (p.Gln116His) rs761808716 0.00001
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln) rs876657746 0.00001
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) rs199991063 0.00001
NM_004281.4(BAG3):c.416G>A (p.Arg139Gln) rs769913236 0.00001
NM_004281.4(BAG3):c.418G>A (p.Gly140Ser) rs780169403 0.00001
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr) rs770678896 0.00001
NM_004281.4(BAG3):c.460G>C (p.Val154Leu) rs376198104 0.00001
NM_004281.4(BAG3):c.46A>G (p.Asn16Asp) rs1474784659 0.00001
NM_004281.4(BAG3):c.473C>T (p.Ala158Val) rs369981590 0.00001
NM_004281.4(BAG3):c.50G>C (p.Gly17Ala) rs1846842565 0.00001
NM_004281.4(BAG3):c.515A>G (p.Gln172Arg) rs1847160177 0.00001
NM_004281.4(BAG3):c.524C>T (p.Ala175Val) rs1847160512 0.00001
NM_004281.4(BAG3):c.542C>T (p.Ser181Phe) rs1482925321 0.00001
NM_004281.4(BAG3):c.557C>T (p.Ala186Val) rs766766600 0.00001
NM_004281.4(BAG3):c.55C>T (p.Arg19Cys) rs727502896 0.00001
NM_004281.4(BAG3):c.578G>A (p.Arg193Lys) rs752722473 0.00001
NM_004281.4(BAG3):c.607C>T (p.Arg203Trp) rs1047671466 0.00001
NM_004281.4(BAG3):c.646G>A (p.Val216Ile) rs148282376 0.00001
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser) rs747846089 0.00001
NM_004281.4(BAG3):c.692C>T (p.Thr231Met) rs747454279 0.00001
NM_004281.4(BAG3):c.704C>T (p.Ala235Val) rs371731106 0.00001
NM_004281.4(BAG3):c.710A>G (p.Gln237Arg) rs1589630230 0.00001
NM_004281.4(BAG3):c.71C>G (p.Pro24Arg) rs771609568 0.00001
NM_004281.4(BAG3):c.770C>T (p.Pro257Leu) rs765142940 0.00001
NM_004281.4(BAG3):c.775C>T (p.Pro259Ser) rs375687199 0.00001
NM_004281.4(BAG3):c.794C>T (p.Pro265Leu) rs769034041 0.00001
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp) rs759573189 0.00001
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu) rs751261054 0.00001
NM_004281.4(BAG3):c.838C>T (p.Pro280Ser) rs1210697765 0.00001
NM_004281.4(BAG3):c.841G>A (p.Ala281Thr) rs1248777510 0.00001
NM_004281.4(BAG3):c.844A>G (p.Arg282Gly) rs1847167969 0.00001
NM_004281.4(BAG3):c.881G>A (p.Arg294His) rs151335530 0.00001
NM_004281.4(BAG3):c.88A>G (p.Ile30Val) rs766796091 0.00001
NM_004281.4(BAG3):c.905C>T (p.Pro302Leu) rs201416791 0.00001
NM_004281.4(BAG3):c.909+4C>T rs376351857 0.00001
NM_004281.4(BAG3):c.910-2A>C rs762944997 0.00001
NM_004281.4(BAG3):c.944C>T (p.Ser315Phe) rs1060502818 0.00001
NM_004281.4(BAG3):c.947A>G (p.Gln316Arg) rs1246603543 0.00001
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys) rs767223665 0.00001
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser) rs762376423 0.00001
NM_004281.4(BAG3):c.997C>T (p.Pro333Ser) rs1393181351 0.00001
NM_004369.4(COL6A3):c.1045G>A (p.Val349Met) rs1464663206 0.00001
NM_004369.4(COL6A3):c.1075A>G (p.Ser359Gly) rs114235473 0.00001
NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr) rs146429448 0.00001
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys) rs779588195 0.00001
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile) rs776324215 0.00001
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met) rs1386395959 0.00001
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys) rs188510971 0.00001
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala) rs770496206 0.00001
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His) rs993649247 0.00001
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser) rs780262157 0.00001
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val) rs756181209 0.00001
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His) rs539057609 0.00001
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys) rs1278327904 0.00001
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val) rs753189030 0.00001
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala) rs1362702190 0.00001
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser) rs2077990679 0.00001
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn) rs886043408 0.00001
NM_004369.4(COL6A3):c.1897+6G>A rs1189511183 0.00001
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu) rs1347014329 0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys) rs763798987 0.00001
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr) rs759150949 0.00001
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly) rs773202559 0.00001
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu) rs747957874 0.00001
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile) rs768905903 0.00001
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg) rs200887514 0.00001
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val) rs771091001 0.00001
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly) rs1326943912 0.00001
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736 0.00001
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe) rs1370199768 0.00001
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp) rs149310819 0.00001
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe) rs1441141878 0.00001
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro) rs1339733240 0.00001
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His) rs775993027 0.00001
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser) rs1226873582 0.00001
NM_004369.4(COL6A3):c.3053A>G (p.Asn1018Ser) rs375167315 0.00001
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser) rs556864605 0.00001
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser) rs1465296993 0.00001
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser) rs748313591 0.00001
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His) rs768971873 0.00001
NM_004369.4(COL6A3):c.322A>G (p.Asn108Asp) rs2078395425 0.00001
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile) rs761490778 0.00001
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys) rs1425555208 0.00001
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp) rs745854120 0.00001
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp) rs1574710031 0.00001
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp) rs769494656 0.00001
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe) rs2077785777 0.00001
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn) rs777599612 0.00001
NM_004369.4(COL6A3):c.3569C>A (p.Thr1190Asn) rs369994205 0.00001
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile) rs949598599 0.00001
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys) rs886042393 0.00001
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser) rs1321693848 0.00001
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn) rs563617159 0.00001
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln) rs1057518127 0.00001
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu) rs372089952 0.00001
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr) rs35799634 0.00001
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala) rs1480888719 0.00001
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val) rs780669785 0.00001
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln) rs1210132500 0.00001
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His) rs1168273415 0.00001
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His) rs115765346 0.00001
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu) rs911848582 0.00001
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys) rs1386145634 0.00001
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys) rs931661932 0.00001
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile) rs1341078916 0.00001
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val) rs757496683 0.00001
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg) rs1026210962 0.00001
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr) rs886042488 0.00001
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu) rs779425587 0.00001
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly) rs1365983591 0.00001
NM_004369.4(COL6A3):c.514G>A (p.Val172Met) rs1270503233 0.00001
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile) rs772640905 0.00001
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu) rs769177221 0.00001
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=) rs886043174 0.00001
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu) rs764975992 0.00001
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val) rs1477823319 0.00001
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser) rs750040219 0.00001
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys) rs886044508 0.00001
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg) rs751626953 0.00001
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr) rs2077562058 0.00001
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val) rs747200439 0.00001
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn) rs78904746 0.00001
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His) rs748330667 0.00001
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu) rs1423516861 0.00001
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu) rs760532694 0.00001
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys) rs1159000538 0.00001
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) rs763172498 0.00001
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala) rs1293700251 0.00001
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln) rs767725940 0.00001
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe) rs763429012 0.00001
NM_004369.4(COL6A3):c.6054G>A (p.Ala2018=) rs367696163 0.00001
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys) rs1001689383 0.00001
NM_004369.4(COL6A3):c.6156+5G>A rs112374074 0.00001
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp) rs765647487 0.00001
NM_004369.4(COL6A3):c.6211-9del rs1280994015 0.00001
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser) rs1364892747 0.00001
NM_004369.4(COL6A3):c.6309+4T>G rs1421626951 0.00001
NM_004369.4(COL6A3):c.6315A>C (p.Glu2105Asp) rs1235042491 0.00001
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala) rs746104217 0.00001
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=) rs1349524156 0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058 0.00001
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu) rs761812649 0.00001
NM_004369.4(COL6A3):c.6592-3C>T rs760143724 0.00001
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser) rs1257553370 0.00001
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile) rs376621780 0.00001
NM_004369.4(COL6A3):c.6691-3C>T rs757686067 0.00001
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser) rs1330724943 0.00001
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513 0.00001
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu) rs773775745 0.00001
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr) rs779359869 0.00001
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln) rs777794580 0.00001
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met) rs759657526 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr) rs778845754 0.00001
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys) rs1282952198 0.00001
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser) rs886044392 0.00001
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys) rs1435064229 0.00001
NM_004369.4(COL6A3):c.7029+3A>G rs886044464 0.00001
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu) rs367725413 0.00001
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr) rs886043065 0.00001
NM_004369.4(COL6A3):c.709+4A>G rs1458579992 0.00001
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn) rs778371231 0.00001
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu) rs377084627 0.00001
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln) rs748029252 0.00001
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val) rs1462967965 0.00001
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys) rs900113844 0.00001
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg) rs781087176 0.00001
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn) rs1269973980 0.00001
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met) rs747074064 0.00001
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg) rs1445471566 0.00001
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu) rs756868798 0.00001
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val) rs794727591 0.00001
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser) rs1009561726 0.00001
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu) rs886055804 0.00001
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala) rs767993846 0.00001
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn) rs756654349 0.00001
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg) rs886044041 0.00001
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe) rs572430889 0.00001
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu) rs778195223 0.00001
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val) rs762902561 0.00001
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln) rs111764507 0.00001
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe) rs141344389 0.00001
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr) rs775790310 0.00001
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly) rs779036168 0.00001
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=) rs766217603 0.00001
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly) rs886044347 0.00001
NM_004369.4(COL6A3):c.8422C>T (p.Pro2808Ser) rs1335582737 0.00001
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys) rs371361651 0.00001
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg) rs146131332 0.00001
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys) rs755510736 0.00001
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu) rs1296360526 0.00001
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala) rs1218467207 0.00001
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu) rs766551222 0.00001
NM_004369.4(COL6A3):c.8966-6T>C rs756239147 0.00001
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr) rs745651769 0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) rs1370564126 0.00001
NM_004369.4(COL6A3):c.9229+4A>C rs749872311 0.00001
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His) rs760496428 0.00001
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser) rs1468004640 0.00001
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro) rs886042363 0.00001
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys) rs755613566 0.00001
NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser) rs1699901008 0.00001
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=) rs1215789317 0.00001
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu) rs371468515 0.00001
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg) rs781141962 0.00001
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950 0.00001
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile) rs780955667 0.00001
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val) rs780247302 0.00001
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys) rs1769480073 0.00001
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile) rs922525519 0.00001
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg) rs1210901422 0.00001
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro) rs779083996 0.00001
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala) rs1310849098 0.00001
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys) rs970722197 0.00001
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn) rs369309158 0.00001
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
NM_004370.6(COL12A1):c.1289-3C>T rs375570066 0.00001
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser) rs771816024 0.00001
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile) rs368199250 0.00001
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu) rs770461984 0.00001
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473 0.00001
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly) rs1445434863 0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) rs371505180 0.00001
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala) rs753897086 0.00001
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr) rs1292052246 0.00001
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys) rs1440470491 0.00001
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val) rs538463802 0.00001
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile) rs758637945 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln) rs1478514196 0.00001
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro) rs1202194413 0.00001
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe) rs1031869609 0.00001
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met) rs749609293 0.00001
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala) rs758201181 0.00001
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe) rs756368336 0.00001
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile) rs1318884120 0.00001
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn) rs1198986280 0.00001
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=) rs370677855 0.00001
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694 0.00001
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp) rs931765391 0.00001
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala) rs941358850 0.00001
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861 0.00001
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu) rs368537733 0.00001
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu) rs375671490 0.00001
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met) rs780466316 0.00001
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu) rs539562135 0.00001
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr) rs568432319 0.00001
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly) rs371518967 0.00001
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr) rs1415214085 0.00001
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val) rs774904567 0.00001
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His) rs1768261055 0.00001
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His) rs370188326 0.00001
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His) rs1477957297 0.00001
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser) rs944768236 0.00001
NM_004370.6(COL12A1):c.2983+5G>A rs1064794720 0.00001
NM_004370.6(COL12A1):c.2984-3C>T rs1394199507 0.00001
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys) rs774087407 0.00001
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys) rs760621245 0.00001
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883 0.00001
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile) rs1376226675 0.00001
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val) rs751589202 0.00001
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055 0.00001
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala) rs1767720355 0.00001
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys) rs1337121359 0.00001
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp) rs749832842 0.00001
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332 0.00001
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu) rs753747530 0.00001
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn) rs1003693918 0.00001
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu) rs990441297 0.00001
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr) rs752018748 0.00001
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met) rs1305647848 0.00001
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile) rs751811370 0.00001
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269 0.00001
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280 0.00001
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val) rs371419803 0.00001
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171 0.00001
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe) rs377551270 0.00001
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp) rs1183950908 0.00001
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val) rs1056626609 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val) rs1353013260 0.00001
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser) rs1220345277 0.00001
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val) rs1267769116 0.00001
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu) rs763614780 0.00001
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile) rs767232468 0.00001
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile) rs771220392 0.00001
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu) rs74383804 0.00001
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser) rs1044813586 0.00001
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn) rs780006734 0.00001
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu) rs1246397590 0.00001
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln) rs775117257 0.00001
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val) rs1172593477 0.00001
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu) rs751657895 0.00001
NM_004370.6(COL12A1):c.511G>C (p.Asp171His) rs748076280 0.00001
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile) rs370108747 0.00001
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser) rs1329724602 0.00001
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=) rs763294691 0.00001
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg) rs377226722 0.00001
NM_004370.6(COL12A1):c.5251+4A>G rs781348212 0.00001
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys) rs374747725 0.00001
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile) rs201205563 0.00001
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys) rs760210784 0.00001
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys) rs368526865 0.00001
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604 0.00001
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926 0.00001
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser) rs749681990 0.00001
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr) rs1479368774 0.00001
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg) rs371970739 0.00001
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala) rs750426294 0.00001
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile) rs1239883407 0.00001
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly) rs1370422060 0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His) rs1766439644 0.00001
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val) rs1416074718 0.00001
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala) rs767796362 0.00001
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr) rs1162295476 0.00001
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261 0.00001
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu) rs1179773170 0.00001
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His) rs1769820873 0.00001
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met) rs376487916 0.00001
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln) rs748657616 0.00001
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met) rs181357263 0.00001
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro) rs1023244422 0.00001
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761 0.00001
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu) rs780058273 0.00001
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu) rs373325814 0.00001
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile) rs1385786827 0.00001
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala) rs1390899930 0.00001
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln) rs1769819268 0.00001
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu) rs1366573056 0.00001
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val) rs1339963289 0.00001
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu) rs1467078008 0.00001
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His) rs374545461 0.00001
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro) rs1298620930 0.00001
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile) rs1158867383 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met) rs1434449708 0.00001
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu) rs1302398240 0.00001
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser) rs1474542485 0.00001
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys) rs1233096096 0.00001
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val) rs372896052 0.00001
NM_004370.6(COL12A1):c.7210+4T>G rs201950823 0.00001
NM_004370.6(COL12A1):c.7211-3T>C rs766034760 0.00001
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu) rs755614789 0.00001
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys) rs781647177 0.00001
NM_004370.6(COL12A1):c.747G>A (p.Thr249=) rs553802363 0.00001
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala) rs770874037 0.00001
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val) rs761234963 0.00001
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val) rs780133855 0.00001
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu) rs775522044 0.00001
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg) rs770613686 0.00001
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val) rs781269301 0.00001
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly) rs1263587165 0.00001
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr) rs767580803 0.00001
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys) rs1384761865 0.00001
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile) rs775684324 0.00001
NM_004370.6(COL12A1):c.7950+9A>G rs778327157 0.00001
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492 0.00001
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val) rs749287325 0.00001
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly) rs1011310040 0.00001
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579 0.00001
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly) rs368105517 0.00001
NM_004370.6(COL12A1):c.8470-3C>A rs1169467662 0.00001
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser) rs376931672 0.00001
NM_004370.6(COL12A1):c.8524-3T>C rs755782718 0.00001
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala) rs758378155 0.00001
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr) rs1427337137 0.00001
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val) rs769818518 0.00001
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile) rs1273649550 0.00001
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala) rs761885492 0.00001
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser) rs1216270127 0.00001
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu) rs771010070 0.00001
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His) rs748714098 0.00001
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln) rs778638053 0.00001
NM_004370.6(COL12A1):c.997+6T>C rs377225744 0.00001
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655 0.00001
NM_006063.3(KLHL41):c.1075A>G (p.Asn359Asp) rs143883202 0.00001
NM_006063.3(KLHL41):c.1147C>A (p.Pro383Thr) rs760973350 0.00001
NM_006063.3(KLHL41):c.1174G>A (p.Gly392Ser) rs374204816 0.00001
NM_006063.3(KLHL41):c.1346T>C (p.Ile449Thr) rs1410868438 0.00001
NM_006063.3(KLHL41):c.1460T>C (p.Met487Thr) rs753046029 0.00001
NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln) rs747822404 0.00001
NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr) rs746755443 0.00001
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) rs1237694295 0.00001
NM_006063.3(KLHL41):c.1745T>C (p.Leu582Ser) rs940060854 0.00001
NM_006063.3(KLHL41):c.176G>A (p.Arg59His) rs759521852 0.00001
NM_006063.3(KLHL41):c.1794A>C (p.Leu598Phe) rs893355163 0.00001
NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys) rs772174002 0.00001
NM_006063.3(KLHL41):c.209A>T (p.Lys70Ile) rs751688698 0.00001
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala) rs553091070 0.00001
NM_006063.3(KLHL41):c.530A>C (p.Gln177Pro) rs1053056040 0.00001
NM_006063.3(KLHL41):c.581A>C (p.Glu194Ala) rs201591782 0.00001
NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu) rs777151398 0.00001
NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr) rs766071573 0.00001
NM_006063.3(KLHL41):c.812C>T (p.Ala271Val) rs1304097331 0.00001
NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu) rs773869984 0.00001
NM_006063.3(KLHL41):c.883A>G (p.Ile295Val) rs774846657 0.00001
NM_006063.3(KLHL41):c.959C>T (p.Thr320Met) rs781536513 0.00001
NM_006063.3(KLHL41):c.994C>A (p.Gln332Lys) rs756595110 0.00001
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn) rs201903235 0.00001
NM_006790.3(MYOT):c.1025-3T>C rs1410370327 0.00001
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser) rs777061001 0.00001
NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro) rs902179316 0.00001
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln) rs761659382 0.00001
NM_006790.3(MYOT):c.1191C>T (p.Ser397=) rs1430285102 0.00001
NM_006790.3(MYOT):c.1195T>C (p.Tyr399His) rs147239483 0.00001
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr) rs587780396 0.00001
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg) rs769872126 0.00001
NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys) rs192257955 0.00001
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln) rs755203621 0.00001
NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser) rs777693396 0.00001
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu) rs766736443 0.00001
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg) rs375274205 0.00001
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys) rs757233743 0.00001
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) rs1755029530 0.00001
NM_006790.3(MYOT):c.372del (p.Ala125fs) rs781353247 0.00001
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) rs982468554 0.00001
NM_006790.3(MYOT):c.398C>T (p.Pro133Leu) rs779568205 0.00001
NM_006790.3(MYOT):c.424A>G (p.Ile142Val) rs771238896 0.00001
NM_006790.3(MYOT):c.464A>C (p.Glu155Ala) rs148166751 0.00001
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe) rs997275341 0.00001
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu) rs1304612966 0.00001
NM_006790.3(MYOT):c.560G>A (p.Arg187His) rs200273223 0.00001
NM_006790.3(MYOT):c.650A>G (p.His217Arg) rs758565747 0.00001
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter) rs781249546 0.00001
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) rs193920888 0.00001
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys) rs760118881 0.00001
NM_006790.3(MYOT):c.752G>A (p.Arg251His) rs1477747475 0.00001
NM_006790.3(MYOT):c.816+5G>T rs750433300 0.00001
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) rs374221793 0.00001
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) rs758194318 0.00001
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly) rs764530865 0.00001
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro) rs755329877 0.00001
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val) rs747011937 0.00001
NM_007078.3(LDB3):c.1129G>A (p.Ala377Thr) rs794729061 0.00001
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser) rs373546361 0.00001
NM_007078.3(LDB3):c.1147A>G (p.Ser383Gly) rs752615115 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.1168G>A (p.Ala390Thr) rs748672176 0.00001
NM_007078.3(LDB3):c.11G>A (p.Ser4Asn) rs766405051 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.1269T>G (p.Asn423Lys) rs375894985 0.00001
NM_007078.3(LDB3):c.1298C>T (p.Pro433Leu) rs776138543 0.00001
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn) rs767914340 0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) rs397517212 0.00001
NM_007078.3(LDB3):c.13G>A (p.Val5Met) rs773170985 0.00001
NM_007078.3(LDB3):c.1418C>A (p.Pro473His) rs780427609 0.00001
NM_007078.3(LDB3):c.1421C>T (p.Ser474Leu) rs1011836119 0.00001
NM_007078.3(LDB3):c.1446G>A (p.Ala482=) rs745655908 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1480G>A (p.Asp494Asn) rs773233738 0.00001
NM_007078.3(LDB3):c.1486T>G (p.Phe496Val) rs141652573 0.00001
NM_007078.3(LDB3):c.1497G>T (p.Lys499Asn) rs1278770988 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_007078.3(LDB3):c.1556C>A (p.Pro519Gln) rs1309491635 0.00001
NM_007078.3(LDB3):c.158A>G (p.Asp53Gly) rs935307586 0.00001
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly) rs1370639524 0.00001
NM_007078.3(LDB3):c.1664A>G (p.Asn555Ser) rs760635362 0.00001
NM_007078.3(LDB3):c.1677-19C>T rs749512075 0.00001
NM_007078.3(LDB3):c.1690G>A (p.Val564Ile) rs962296772 0.00001
NM_007078.3(LDB3):c.172G>A (p.Asp58Asn) rs730880127 0.00001
NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys) rs199749907 0.00001
NM_007078.3(LDB3):c.1748C>G (p.Ser583Cys) rs1263835922 0.00001
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile) rs727503130 0.00001
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln) rs747523570 0.00001
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser) rs1349969494 0.00001
NM_007078.3(LDB3):c.1885T>C (p.Trp629Arg) rs773554501 0.00001
NM_007078.3(LDB3):c.1894A>G (p.Thr632Ala) rs770525232 0.00001
NM_007078.3(LDB3):c.1978G>A (p.Asp660Asn) rs1442071380 0.00001
NM_007078.3(LDB3):c.2026G>A (p.Val676Met) rs549994359 0.00001
NM_007078.3(LDB3):c.2037C>T (p.Gly679=) rs754386652 0.00001
NM_007078.3(LDB3):c.2056C>G (p.Leu686Val) rs910863988 0.00001
NM_007078.3(LDB3):c.2060G>A (p.Gly687Asp) rs1230240655 0.00001
NM_007078.3(LDB3):c.2094+10T>C rs769802374 0.00001
NM_007078.3(LDB3):c.2094+5G>A rs1847251877 0.00001
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter) rs771316707 0.00001
NM_007078.3(LDB3):c.2123C>T (p.Pro708Leu) rs774815578 0.00001
NM_007078.3(LDB3):c.2135A>G (p.Lys712Arg) rs1451712853 0.00001
NM_007078.3(LDB3):c.2142C>A (p.Asp714Glu) rs1054918785 0.00001
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr) rs727505129 0.00001
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile) rs397517221 0.00001
NM_007078.3(LDB3):c.254G>A (p.Arg85His) rs200420174 0.00001
NM_007078.3(LDB3):c.269C>G (p.Ser90Cys) rs765975330 0.00001
NM_007078.3(LDB3):c.272C>T (p.Thr91Met) rs769237367 0.00001
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu) rs772912790 0.00001
NM_007078.3(LDB3):c.31G>A (p.Gly11Arg) rs370493508 0.00001
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr) rs768737496 0.00001
NM_007078.3(LDB3):c.368G>A (p.Ser123Asn) rs754266629 0.00001
NM_007078.3(LDB3):c.380G>A (p.Arg127Lys) rs1365412037 0.00001
NM_007078.3(LDB3):c.395C>T (p.Thr132Ile) rs146527589 0.00001
NM_007078.3(LDB3):c.415A>G (p.Arg139Gly) rs199801766 0.00001
NM_007078.3(LDB3):c.433G>T (p.Ala145Ser) rs758814399 0.00001
NM_007078.3(LDB3):c.437T>C (p.Phe146Ser) rs1480923559 0.00001
NM_007078.3(LDB3):c.442C>T (p.Arg148Trp) rs536186237 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007078.3(LDB3):c.467C>T (p.Ala156Val) rs1243384140 0.00001
NM_007078.3(LDB3):c.488C>G (p.Pro163Arg) rs776608362 0.00001
NM_007078.3(LDB3):c.501C>A (p.Ser167Arg) rs1183240131 0.00001
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly) rs794729058 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_007078.3(LDB3):c.56G>C (p.Gly19Ala) rs753314972 0.00001
NM_007078.3(LDB3):c.575C>T (p.Pro192Leu) rs758182278 0.00001
NM_007078.3(LDB3):c.592C>T (p.Pro198Ser) rs1060501318 0.00001
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile) rs121908337 0.00001
NM_007078.3(LDB3):c.650G>A (p.Ser217Asn) rs1246502816 0.00001
NM_007078.3(LDB3):c.689+3902G>A rs1057521576 0.00001
NM_007078.3(LDB3):c.716T>C (p.Val239Ala) rs774595610 0.00001
NM_007078.3(LDB3):c.72C>A (p.Asn24Lys) rs1323002546 0.00001
NM_007078.3(LDB3):c.778G>A (p.Ala260Thr) rs777637914 0.00001
NM_007078.3(LDB3):c.782A>C (p.Asp261Ala) rs1285921374 0.00001
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr) rs146414300 0.00001
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) rs776803568 0.00001
NM_007078.3(LDB3):c.817C>T (p.Arg273Cys) rs141116920 0.00001
NM_007078.3(LDB3):c.827G>A (p.Arg276His) rs774519585 0.00001
NM_007078.3(LDB3):c.829A>T (p.Ile277Phe) rs78680509 0.00001
NM_007078.3(LDB3):c.845C>T (p.Thr282Met) rs199811186 0.00001
NM_007078.3(LDB3):c.858C>T (p.Phe286=) rs764056994 0.00001
NM_007078.3(LDB3):c.859A>G (p.Met287Val) rs1353972543 0.00001
NM_007078.3(LDB3):c.869C>T (p.Pro290Leu) rs775180716 0.00001
NM_007078.3(LDB3):c.890G>A (p.Arg297Lys) rs1266510625 0.00001
NM_007078.3(LDB3):c.892T>G (p.Ser298Ala) rs953198544 0.00001
NM_007078.3(LDB3):c.896+5G>A rs368078924 0.00001
NM_007078.3(LDB3):c.897-1_897del rs1354084230 0.00001
NM_007078.3(LDB3):c.914C>A (p.Ala305Glu) rs544084461 0.00001
NM_007078.3(LDB3):c.917C>T (p.Pro306Leu) rs955622381 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_007078.3(LDB3):c.94-9T>C rs1282721488 0.00001
NM_007078.3(LDB3):c.940A>G (p.Thr314Ala) rs756910859 0.00001
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr) rs151219713 0.00001
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr) rs749520121 0.00001
NM_017534.6(MYH2):c.1046A>G (p.Lys349Arg) rs748792149 0.00001
NM_017534.6(MYH2):c.112G>A (p.Val38Ile) rs1273237983 0.00001
NM_017534.6(MYH2):c.1267G>A (p.Val423Met) rs1433670000 0.00001
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys) rs756281353 0.00001
NM_017534.6(MYH2):c.130A>G (p.Lys44Glu) rs769767111 0.00001
NM_017534.6(MYH2):c.1381G>A (p.Gly461Arg) rs1238892450 0.00001
NM_017534.6(MYH2):c.1492G>A (p.Val498Met) rs374726398 0.00001
NM_017534.6(MYH2):c.1543G>A (p.Asp515Asn) rs372386851 0.00001
NM_017534.6(MYH2):c.1546T>G (p.Phe516Val) rs894307740 0.00001
NM_017534.6(MYH2):c.1711G>A (p.Val571Met) rs778226679 0.00001
NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr) rs757972369 0.00001
NM_017534.6(MYH2):c.1763T>C (p.Val588Ala) rs753668463 0.00001
NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser) rs778516827 0.00001
NM_017534.6(MYH2):c.1927G>A (p.Gly643Ser) rs781153789 0.00001
NM_017534.6(MYH2):c.2057C>A (p.Thr686Asn) rs767880435 0.00001
NM_017534.6(MYH2):c.2071G>A (p.Glu691Lys) rs972757672 0.00001
NM_017534.6(MYH2):c.2077G>A (p.Glu693Lys) rs1426839625 0.00001
NM_017534.6(MYH2):c.2092C>G (p.Gln698Glu) rs142443410 0.00001
NM_017534.6(MYH2):c.212C>T (p.Thr71Ile) rs145472283 0.00001
NM_017534.6(MYH2):c.2273A>C (p.Asp758Ala) rs758731503 0.00001
NM_017534.6(MYH2):c.2390G>T (p.Arg797Met) rs771139007 0.00001
NM_017534.6(MYH2):c.239T>C (p.Met80Thr) rs764144162 0.00001
NM_017534.6(MYH2):c.2602G>A (p.Glu868Lys) rs267604724 0.00001
NM_017534.6(MYH2):c.2617G>A (p.Glu873Lys) rs770099846 0.00001
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met) rs150566222 0.00001
NM_017534.6(MYH2):c.2671A>G (p.Asn891Asp) rs763476894 0.00001
NM_017534.6(MYH2):c.2789A>G (p.Glu930Gly) rs1335748239 0.00001
NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn) rs201945489 0.00001
NM_017534.6(MYH2):c.2940G>C (p.Lys980Asn) rs2073403461 0.00001
NM_017534.6(MYH2):c.2963T>A (p.Met988Lys) rs749824406 0.00001
NM_017534.6(MYH2):c.2987C>T (p.Ala996Val) rs201793838 0.00001
NM_017534.6(MYH2):c.3027C>G (p.His1009Gln) rs761382091 0.00001
NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val) rs771807032 0.00001
NM_017534.6(MYH2):c.3124G>A (p.Gly1042Arg) rs2073398000 0.00001
NM_017534.6(MYH2):c.3214A>T (p.Ile1072Leu) rs2073396485 0.00001
NM_017534.6(MYH2):c.3354+6T>C rs759993294 0.00001
NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys) rs756255059 0.00001
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln) rs778993350 0.00001
NM_017534.6(MYH2):c.3424C>T (p.Arg1142Cys) rs752906702 0.00001
NM_017534.6(MYH2):c.3430G>C (p.Asp1144His) rs2073390411 0.00001
NM_017534.6(MYH2):c.348C>T (p.Tyr116=) rs570034593 0.00001
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln) rs886043621 0.00001
NM_017534.6(MYH2):c.3541C>T (p.Arg1181Cys) rs201768483 0.00001
NM_017534.6(MYH2):c.3571C>T (p.His1191Tyr) rs938797010 0.00001
NM_017534.6(MYH2):c.3574G>A (p.Glu1192Lys) rs780122233 0.00001
NM_017534.6(MYH2):c.3584C>T (p.Ala1195Val) rs373108053 0.00001
NM_017534.6(MYH2):c.3604C>T (p.His1202Tyr) rs764501722 0.00001
NM_017534.6(MYH2):c.3611A>G (p.Asp1204Gly) rs2073386786 0.00001
NM_017534.6(MYH2):c.3622G>A (p.Glu1208Lys) rs546948489 0.00001
NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln) rs139755852 0.00001
NM_017534.6(MYH2):c.3745-3T>C rs1305490194 0.00001
NM_017534.6(MYH2):c.3767G>A (p.Arg1256Gln) rs141448415 0.00001
NM_017534.6(MYH2):c.3785T>G (p.Leu1262Arg) rs1178928941 0.00001
NM_017534.6(MYH2):c.3941T>C (p.Phe1314Ser) rs766227489 0.00001
NM_017534.6(MYH2):c.3946C>A (p.Gln1316Lys) rs554431336 0.00001
NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro) rs1380534578 0.00001
NM_017534.6(MYH2):c.4084G>A (p.Glu1362Lys) rs772043473 0.00001
NM_017534.6(MYH2):c.4103C>T (p.Ser1368Phe) rs754037459 0.00001
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys) rs374190003 0.00001
NM_017534.6(MYH2):c.4144G>A (p.Glu1382Lys) rs2073357858 0.00001
NM_017534.6(MYH2):c.4154C>T (p.Ala1385Val) rs1406857706 0.00001
NM_017534.6(MYH2):c.4162C>T (p.Arg1388Cys) rs140775405 0.00001
NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val) rs770023922 0.00001
NM_017534.6(MYH2):c.4243G>A (p.Ala1415Thr) rs755848527 0.00001
NM_017534.6(MYH2):c.4252G>T (p.Ala1418Ser) rs752335450 0.00001
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys) rs368304404 0.00001
NM_017534.6(MYH2):c.4291G>A (p.Val1431Ile) rs776820408 0.00001
NM_017534.6(MYH2):c.4294G>A (p.Glu1432Lys) rs747081221 0.00001
NM_017534.6(MYH2):c.4330G>A (p.Ala1444Thr) rs142908651 0.00001
NM_017534.6(MYH2):c.4366G>A (p.Asp1456Asn) rs761573741 0.00001
NM_017534.6(MYH2):c.4369A>G (p.Lys1457Glu) rs776886264 0.00001
NM_017534.6(MYH2):c.4424C>A (p.Ala1475Asp) rs938120515 0.00001
NM_017534.6(MYH2):c.4441C>T (p.Arg1481Cys) rs990939157 0.00001
NM_017534.6(MYH2):c.4517G>A (p.Arg1506Gln) rs1049022189 0.00001
NM_017534.6(MYH2):c.474C>G (p.Ile158Met) rs780719632 0.00001
NM_017534.6(MYH2):c.4817C>T (p.Thr1606Met) rs768621451 0.00001
NM_017534.6(MYH2):c.4919G>A (p.Arg1640His) rs772914345 0.00001
NM_017534.6(MYH2):c.4961G>C (p.Gly1654Ala) rs1126556 0.00001
NM_017534.6(MYH2):c.4966C>T (p.Leu1656Phe) rs369083161 0.00001
NM_017534.6(MYH2):c.5030T>G (p.Leu1677Arg) rs2073325642 0.00001
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln) rs1321342402 0.00001
NM_017534.6(MYH2):c.509G>A (p.Arg170Gln) rs778801023 0.00001
NM_017534.6(MYH2):c.5210A>C (p.Glu1737Ala) rs760648896 0.00001
NM_017534.6(MYH2):c.5261C>T (p.Ala1754Val) rs747877150 0.00001
NM_017534.6(MYH2):c.5323C>G (p.Leu1775Val) rs753602134 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017534.6(MYH2):c.5345G>A (p.Ser1782Asn) rs1178820376 0.00001
NM_017534.6(MYH2):c.5347G>A (p.Ala1783Thr) rs759668950 0.00001
NM_017534.6(MYH2):c.5360G>A (p.Arg1787Gln) rs770182875 0.00001
NM_017534.6(MYH2):c.5362A>G (p.Met1788Val) rs572874607 0.00001
NM_017534.6(MYH2):c.5386G>A (p.Val1796Met) rs778350338 0.00001
NM_017534.6(MYH2):c.5404C>T (p.Arg1802Cys) rs746710734 0.00001
NM_017534.6(MYH2):c.5545C>T (p.His1849Tyr) rs1555569647 0.00001
NM_017534.6(MYH2):c.5564A>G (p.Glu1855Gly) rs200726747 0.00001
NM_017534.6(MYH2):c.5566C>T (p.Leu1856Phe) rs1488236141 0.00001
NM_017534.6(MYH2):c.5607G>C (p.Arg1869Ser) rs370387304 0.00001
NM_017534.6(MYH2):c.5707C>T (p.Arg1903Cys) rs777766586 0.00001
NM_017534.6(MYH2):c.571C>T (p.Arg191Cys) rs770369215 0.00001
NM_017534.6(MYH2):c.572G>A (p.Arg191His) rs778659452 0.00001
NM_017534.6(MYH2):c.5737G>A (p.Glu1913Lys) rs1350545511 0.00001
NM_017534.6(MYH2):c.5765A>G (p.Gln1922Arg) rs1350620712 0.00001
NM_017534.6(MYH2):c.5777T>G (p.Leu1926Arg) rs756130400 0.00001
NM_017534.6(MYH2):c.5786A>G (p.Lys1929Arg) rs1197611302 0.00001
NM_017534.6(MYH2):c.5792G>A (p.Arg1931Gln) rs763107075 0.00001
NM_017534.6(MYH2):c.620A>T (p.Lys207Met) rs373306322 0.00001
NM_017534.6(MYH2):c.649G>A (p.Gly217Arg) rs1204821136 0.00001
NM_017534.6(MYH2):c.737G>A (p.Arg246His) rs773713563 0.00001
NM_017534.6(MYH2):c.814G>C (p.Glu272Gln) rs2073575845 0.00001
NM_017534.6(MYH2):c.881C>T (p.Ser294Leu) rs2073575109 0.00001
NM_017534.6(MYH2):c.986A>G (p.Gln329Arg) rs1023760701 0.00001
NM_020451.3(SELENON):c.1055G>A (p.Ser352Asn) rs749342493 0.00001
NM_020451.3(SELENON):c.1243G>A (p.Ala415Thr) rs953899916 0.00001
NM_020451.3(SELENON):c.1246C>T (p.Arg416Trp) rs369207232 0.00001
NM_020451.3(SELENON):c.1281+15_1281+25dup rs1402844279 0.00001
NM_020451.3(SELENON):c.1337T>C (p.Leu446Pro) rs1257737257 0.00001
NM_020451.3(SELENON):c.1348A>G (p.Ile450Val) rs1472493197 0.00001
NM_020451.3(SELENON):c.1378T>C (p.Ser460Pro) rs1227306514 0.00001
NM_020451.3(SELENON):c.1387+6G>A rs1318995344 0.00001
NM_020451.3(SELENON):c.1421A>G (p.Glu474Gly) rs772460886 0.00001
NM_020451.3(SELENON):c.1495C>G (p.Leu499Val) rs760671117 0.00001
NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu) rs763724398 0.00001
NM_020451.3(SELENON):c.1500+6C>T rs1245353353 0.00001
NM_020451.3(SELENON):c.1607A>G (p.His536Arg) rs758653293 0.00001
NM_020451.3(SELENON):c.1663G>A (p.Glu555Lys) rs1187861214 0.00001
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys) rs765368764 0.00001
NM_020451.3(SELENON):c.1748G>A (p.Arg583His) rs771563318 0.00001
NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter) rs374398346 0.00001
NM_020451.3(SELENON):c.176C>A (p.Ala59Glu) rs970390100 0.00001
NM_020451.3(SELENON):c.205G>C (p.Gly69Arg) rs779935621 0.00001
NM_020451.3(SELENON):c.206G>A (p.Gly69Glu) rs746738124 0.00001
NM_020451.3(SELENON):c.28G>C (p.Gly10Arg) rs1174797000 0.00001
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln) rs765749301 0.00001
NM_020451.3(SELENON):c.521A>C (p.Lys174Thr) rs770305372 0.00001
NM_020451.3(SELENON):c.581C>T (p.Ala194Val) rs727504148 0.00001
NM_020451.3(SELENON):c.608C>T (p.Thr203Ile) rs755740382 0.00001
NM_020451.3(SELENON):c.610C>T (p.Arg204Cys) rs754161311 0.00001
NM_020451.3(SELENON):c.611G>A (p.Arg204His) rs757780272 0.00001
NM_020451.3(SELENON):c.715C>T (p.Arg239Cys) rs749100423 0.00001
NM_020451.3(SELENON):c.730C>T (p.Pro244Ser) rs775003175 0.00001
NM_020451.3(SELENON):c.761G>A (p.Arg254Gln) rs779808108 0.00001
NM_020451.3(SELENON):c.781C>T (p.Pro261Ser) rs1270929673 0.00001
NM_020451.3(SELENON):c.784C>T (p.Arg262Trp) rs746994841 0.00001
NM_020451.3(SELENON):c.793G>A (p.Val265Met) rs1364075867 0.00001
NM_020451.3(SELENON):c.847G>A (p.Asp283Asn) rs760149813 0.00001
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp) rs757446463 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020451.3(SELENON):c.935A>G (p.Gln312Arg) rs775897489 0.00001
NM_020451.3(SELENON):c.976G>A (p.Val326Ile) rs764032922 0.00001
NM_020451.3(SELENON):c.979C>T (p.Arg327Cys) rs753400008 0.00001
NM_020451.3(SELENON):c.982G>A (p.Asp328Asn) rs771240009 0.00001
NM_032790.4(ORAI1):c.107A>T (p.Asp36Val) rs1276920059 0.00001
NM_032790.4(ORAI1):c.152C>T (p.Thr51Ile) rs553962719 0.00001
NM_032790.4(ORAI1):c.212T>G (p.Met71Arg) rs1286173837 0.00001
NM_032790.4(ORAI1):c.228G>C (p.Trp76Cys) rs1555322589 0.00001
NM_032790.4(ORAI1):c.340G>A (p.Asp114Asn) rs782316353 0.00001
NM_032790.4(ORAI1):c.476C>T (p.Ser159Leu) rs781929515 0.00001
NM_032790.4(ORAI1):c.508C>T (p.Arg170Cys) rs559396531 0.00001
NM_032790.4(ORAI1):c.628A>G (p.Arg210Gly) rs1440863247 0.00001
NM_032790.4(ORAI1):c.649G>A (p.Ala217Thr) rs782438034 0.00001
NM_032790.4(ORAI1):c.712G>A (p.Ala238Thr) rs782448303 0.00001
NM_032790.4(ORAI1):c.716C>T (p.Ser239Leu) rs782580422 0.00001
NM_032790.4(ORAI1):c.739G>A (p.Gly247Ser) rs782169524 0.00001
NM_032790.4(ORAI1):c.760G>A (p.Ala254Thr) rs374711919 0.00001
NM_032790.4(ORAI1):c.776G>A (p.Arg259His) rs781789915 0.00001
NM_032790.4(ORAI1):c.820A>C (p.Asn274His) rs1311584085 0.00001
NM_032790.4(ORAI1):c.889G>A (p.Gly297Ser) rs375464035 0.00001
NM_138638.5(CFL2):c.17C>G (p.Thr6Arg) rs758040099 0.00001
NM_138638.5(CFL2):c.73A>G (p.Thr25Ala) rs1004680147 0.00001
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu) rs775494528 0.00001
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val) rs1355424178 0.00001
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe) rs965561469 0.00001
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met) rs577812854 0.00001
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys) rs1268978517 0.00001
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr) rs769252326 0.00001
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala) rs777951748 0.00001
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile) rs769199881 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.1461+6A>T rs972060066 0.00001
NM_139343.3(BIN1):c.1516G>A (p.Val506Met) rs371571307 0.00001
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg) rs777452575 0.00001
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu) rs755351031 0.00001
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe) rs763458588 0.00001
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg) rs765354438 0.00001
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser) rs369549551 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) rs774321875 0.00001
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr) rs1682474004 0.00001
NM_139343.3(BIN1):c.1696G>A (p.Val566Met) rs761759946 0.00001
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile) rs759691190 0.00001
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser) rs1466748456 0.00001
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn) rs532260569 0.00001
NM_139343.3(BIN1):c.416G>A (p.Arg139His) rs755355125 0.00001
NM_139343.3(BIN1):c.434G>A (p.Arg145His) rs1219115067 0.00001
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys) rs764377144 0.00001
NM_139343.3(BIN1):c.519+4A>G rs1429919147 0.00001
NM_139343.3(BIN1):c.520-3C>A rs1455432609 0.00001
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu) rs776075897 0.00001
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu) rs777940512 0.00001
NM_139343.3(BIN1):c.57G>C (p.Gln19His) rs142657993 0.00001
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter) rs762897872 0.00001
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly) rs777898974 0.00001
NM_139343.3(BIN1):c.767T>C (p.Met256Thr) rs975404965 0.00001
NM_139343.3(BIN1):c.784A>C (p.Asn262His) rs1331854784 0.00001
NM_139343.3(BIN1):c.84+1G>A rs1364583460 0.00001
NM_139343.3(BIN1):c.85-5G>A rs371593265 0.00001
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn) rs1490772170 0.00001
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr) rs1160778854 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser) rs748381039 0.00001
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser) rs781377841 0.00001
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser) rs753614814 0.00001
NM_145064.3(STAC3):c.170G>T (p.Gly57Val) rs1027548586 0.00001
NM_145064.3(STAC3):c.187A>G (p.Ile63Val) rs772643404 0.00001
NM_145064.3(STAC3):c.259G>A (p.Asp87Asn) rs776406787 0.00001
NM_145064.3(STAC3):c.280G>A (p.Asp94Asn) rs368386121 0.00001
NM_145064.3(STAC3):c.339C>A (p.Asn113Lys) rs763684159 0.00001
NM_145064.3(STAC3):c.393_395dup (p.Cys131_Gln132insHis) rs765764018 0.00001
NM_145064.3(STAC3):c.436C>G (p.Pro146Ala) rs754562509 0.00001
NM_145064.3(STAC3):c.517C>T (p.Arg173Cys) rs1404488985 0.00001
NM_145064.3(STAC3):c.521A>G (p.Asn174Ser) rs1038718298 0.00001
NM_145064.3(STAC3):c.574C>T (p.Arg192Trp) rs1202021365 0.00001
NM_145064.3(STAC3):c.630G>T (p.Glu210Asp) rs758788446 0.00001
NM_145064.3(STAC3):c.670+3del rs1236144994 0.00001
NM_145064.3(STAC3):c.774C>G (p.Phe258Leu) rs922499167 0.00001
NM_152263.4(TPM3):c.567-4A>C rs199517163 0.00001
NM_152263.4(TPM3):c.642+4G>T rs1462764945 0.00001
NM_152263.4(TPM3):c.643-3C>T rs529845435 0.00001
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640 0.00001
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg) rs201202440 0.00001
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr) rs761036509 0.00001
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly) rs1455676920 0.00001
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg) rs536564074 0.00001
NM_152263.4(TPM3):c.829C>A (p.His277Asn) rs747794605 0.00001
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr) rs377438824 0.00001
NM_152263.4(TPM3):c.835C>G (p.Leu279Val) rs186253666 0.00001
NM_152263.4(TPM3):c.844A>G (p.Met282Val) rs1661325667 0.00001
NM_152263.4(TPM3):c.853A>G (p.Ile285Val) rs758557977 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
NM_152393.4(KLHL40):c.1019G>C (p.Cys340Ser) rs758244161 0.00001
NM_152393.4(KLHL40):c.1097G>A (p.Gly366Asp) rs952832025 0.00001
NM_152393.4(KLHL40):c.1152+4C>T rs1553680497 0.00001
NM_152393.4(KLHL40):c.1196C>T (p.Pro399Leu) rs770413516 0.00001
NM_152393.4(KLHL40):c.1246G>A (p.Val416Met) rs759198473 0.00001
NM_152393.4(KLHL40):c.1276G>A (p.Glu426Lys) rs760403231 0.00001
NM_152393.4(KLHL40):c.1312C>T (p.Leu438=) rs200589852 0.00001
NM_152393.4(KLHL40):c.1334C>T (p.Ser445Leu) rs375891897 0.00001
NM_152393.4(KLHL40):c.1345C>T (p.Pro449Ser) rs1194342086 0.00001
NM_152393.4(KLHL40):c.1381A>G (p.Met461Val) rs776547008 0.00001
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile) rs773720799 0.00001
NM_152393.4(KLHL40):c.1615C>T (p.Pro539Ser) rs758550223 0.00001
NM_152393.4(KLHL40):c.1616C>T (p.Pro539Leu) rs780261738 0.00001
NM_152393.4(KLHL40):c.1652G>A (p.Ser551Asn) rs373194829 0.00001
NM_152393.4(KLHL40):c.1673C>A (p.Thr558Asn) rs775375049 0.00001
NM_152393.4(KLHL40):c.1735G>A (p.Glu579Lys) rs756584441 0.00001
NM_152393.4(KLHL40):c.1810G>T (p.Ala604Ser) rs1274671626 0.00001
NM_152393.4(KLHL40):c.1844T>C (p.Val615Ala) rs1383540575 0.00001
NM_152393.4(KLHL40):c.193G>A (p.Glu65Lys) rs779869498 0.00001
NM_152393.4(KLHL40):c.211G>A (p.Glu71Lys) rs375331819 0.00001
NM_152393.4(KLHL40):c.248C>G (p.Ala83Gly) rs1246685748 0.00001
NM_152393.4(KLHL40):c.251A>G (p.Gln84Arg) rs780835485 0.00001
NM_152393.4(KLHL40):c.296C>T (p.Ala99Val) rs915743218 0.00001
NM_152393.4(KLHL40):c.300C>A (p.Ser100Arg) rs765609919 0.00001
NM_152393.4(KLHL40):c.341C>T (p.Pro114Leu) rs1333354759 0.00001
NM_152393.4(KLHL40):c.344C>T (p.Ser115Phe) rs371748730 0.00001
NM_152393.4(KLHL40):c.385T>G (p.Cys129Gly) rs765939784 0.00001
NM_152393.4(KLHL40):c.386G>C (p.Cys129Ser) rs751036389 0.00001
NM_152393.4(KLHL40):c.395A>G (p.Asn132Ser) rs767039942 0.00001
NM_152393.4(KLHL40):c.416T>C (p.Leu139Pro) rs1328688864 0.00001
NM_152393.4(KLHL40):c.427C>T (p.Leu143Phe) rs780332509 0.00001
NM_152393.4(KLHL40):c.430G>C (p.Asp144His) rs374038735 0.00001
NM_152393.4(KLHL40):c.472G>T (p.Ala158Ser) rs562925616 0.00001
NM_152393.4(KLHL40):c.523G>A (p.Asp175Asn) rs771551921 0.00001
NM_152393.4(KLHL40):c.553G>C (p.Gly185Arg) rs921432594 0.00001
NM_152393.4(KLHL40):c.557T>A (p.Leu186His) rs777496833 0.00001
NM_152393.4(KLHL40):c.610A>G (p.Ser204Gly) rs560260717 0.00001
NM_152393.4(KLHL40):c.611G>A (p.Ser204Asn) rs879858391 0.00001
NM_152393.4(KLHL40):c.619G>A (p.Ala207Thr) rs1479459996 0.00001
NM_152393.4(KLHL40):c.710G>A (p.Arg237His) rs1697272315 0.00001
NM_152393.4(KLHL40):c.712G>A (p.Val238Met) rs1478443086 0.00001
NM_152393.4(KLHL40):c.724C>G (p.Pro242Ala) rs1312120521 0.00001
NM_152393.4(KLHL40):c.752T>A (p.Leu251Gln) rs928500134 0.00001
NM_152393.4(KLHL40):c.759G>C (p.Lys253Asn) rs370186438 0.00001
NM_152393.4(KLHL40):c.86A>G (p.His29Arg) rs375788187 0.00001
NM_152393.4(KLHL40):c.885T>G (p.Asp295Glu) rs1229392663 0.00001
NM_152393.4(KLHL40):c.921T>G (p.Asn307Lys) rs746903692 0.00001
NM_198271.5(LMOD3):c.1031G>A (p.Arg344Gln) rs558303713 0.00001
NM_198271.5(LMOD3):c.1061A>G (p.His354Arg) rs1217215656 0.00001
NM_198271.5(LMOD3):c.1152G>A (p.Met384Ile) rs1424776785 0.00001
NM_198271.5(LMOD3):c.1213C>G (p.Gln405Glu) rs920889036 0.00001
NM_198271.5(LMOD3):c.1235A>G (p.Glu412Gly) rs962387541 0.00001
NM_198271.5(LMOD3):c.1294G>A (p.Glu432Lys) rs1239339268 0.00001
NM_198271.5(LMOD3):c.1298T>A (p.Leu433Gln) rs371262604 0.00001
NM_198271.5(LMOD3):c.1355C>T (p.Pro452Leu) rs750436069 0.00001
NM_198271.5(LMOD3):c.1370C>T (p.Pro457Leu) rs1323958359 0.00001
NM_198271.5(LMOD3):c.1397G>A (p.Ser466Asn) rs768340380 0.00001
NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu) rs751389222 0.00001
NM_198271.5(LMOD3):c.142C>G (p.Leu48Val) rs777262094 0.00001
NM_198271.5(LMOD3):c.1441G>A (p.Asp481Asn) rs750502860 0.00001
NM_198271.5(LMOD3):c.1460T>C (p.Val487Ala) rs745318870 0.00001
NM_198271.5(LMOD3):c.1468C>A (p.Leu490Met) rs375665119 0.00001
NM_198271.5(LMOD3):c.1473_1475del (p.Arg492del) rs752216316 0.00001
NM_198271.5(LMOD3):c.1484G>A (p.Arg495His) rs780071005 0.00001
NM_198271.5(LMOD3):c.1507A>G (p.Arg503Gly) rs764972614 0.00001
NM_198271.5(LMOD3):c.1544T>A (p.Ile515Asn) rs747837263 0.00001
NM_198271.5(LMOD3):c.1558C>G (p.Pro520Ala) rs764451589 0.00001
NM_198271.5(LMOD3):c.155T>C (p.Met52Thr) rs1252489316 0.00001
NM_198271.5(LMOD3):c.1628G>A (p.Arg543His) rs199655993 0.00001
NM_198271.5(LMOD3):c.1656+1G>C rs1306800094 0.00001
NM_198271.5(LMOD3):c.1657G>A (p.Val553Met) rs762946989 0.00001
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn) rs1469953832 0.00001
NM_198271.5(LMOD3):c.1681T>C (p.Ter561Gln) rs749851437 0.00001
NM_198271.5(LMOD3):c.266G>A (p.Arg89Gln) rs771330798 0.00001
NM_198271.5(LMOD3):c.296A>G (p.Glu99Gly) rs1258289949 0.00001
NM_198271.5(LMOD3):c.366G>T (p.Lys122Asn) rs759804680 0.00001
NM_198271.5(LMOD3):c.392A>G (p.Lys131Arg) rs779719094 0.00001
NM_198271.5(LMOD3):c.400T>G (p.Ser134Ala) rs1283065889 0.00001
NM_198271.5(LMOD3):c.463G>A (p.Asp155Asn) rs767649855 0.00001
NM_198271.5(LMOD3):c.464A>G (p.Asp155Gly) rs2092399198 0.00001
NM_198271.5(LMOD3):c.472G>A (p.Glu158Lys) rs988718606 0.00001
NM_198271.5(LMOD3):c.484G>A (p.Asp162Asn) rs551988491 0.00001
NM_198271.5(LMOD3):c.495G>C (p.Glu165Asp) rs1488501537 0.00001
NM_198271.5(LMOD3):c.510C>G (p.Asn170Lys) rs1280888308 0.00001
NM_198271.5(LMOD3):c.52A>G (p.Ile18Val) rs1165265351 0.00001
NM_198271.5(LMOD3):c.575C>T (p.Thr192Ile) rs1408867451 0.00001
NM_198271.5(LMOD3):c.656A>G (p.Lys219Arg) rs190038977 0.00001
NM_198271.5(LMOD3):c.76A>G (p.Asn26Asp) rs541421744 0.00001
NM_198271.5(LMOD3):c.817G>T (p.Asp273Tyr) rs757466929 0.00001
NM_198271.5(LMOD3):c.823G>A (p.Val275Ile) rs777811622 0.00001
NM_198271.5(LMOD3):c.832A>G (p.Met278Val) rs755520605 0.00001
NM_198271.5(LMOD3):c.872A>G (p.Asn291Ser) rs768467240 0.00001
NM_198271.5(LMOD3):c.895G>A (p.Ala299Thr) rs758653889 0.00001
NM_198859.4(PRICKLE2):c.1004G>A (p.Arg335Gln) rs754654816 0.00001
NM_198859.4(PRICKLE2):c.1047G>T (p.Glu349Asp) rs776851070 0.00001
NM_198859.4(PRICKLE2):c.1102G>A (p.Asp368Asn) rs544405738 0.00001
NM_198859.4(PRICKLE2):c.1132A>G (p.Met378Val) rs751445312 0.00001
NM_198859.4(PRICKLE2):c.1134G>A (p.Met378Ile) rs368695262 0.00001
NM_198859.4(PRICKLE2):c.1139G>T (p.Ser380Ile) rs1345969937 0.00001
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989 0.00001
NM_198859.4(PRICKLE2):c.1190G>A (p.Arg397Gln) rs550384726 0.00001
NM_198859.4(PRICKLE2):c.1318G>A (p.Glu440Lys) rs780771241 0.00001
NM_198859.4(PRICKLE2):c.1367C>T (p.Ala456Val) rs1441238911 0.00001
NM_198859.4(PRICKLE2):c.1371G>A (p.Met457Ile) rs201170479 0.00001
NM_198859.4(PRICKLE2):c.144+3A>G rs746978790 0.00001
NM_198859.4(PRICKLE2):c.1528G>A (p.Glu510Lys) rs777124617 0.00001
NM_198859.4(PRICKLE2):c.1568C>A (p.Pro523His) rs2077464822 0.00001
NM_198859.4(PRICKLE2):c.1576T>C (p.Ser526Pro) rs1054433686 0.00001
NM_198859.4(PRICKLE2):c.1658C>T (p.Thr553Ile) rs372225003 0.00001
NM_198859.4(PRICKLE2):c.1667C>A (p.Ser556Tyr) rs1205407393 0.00001
NM_198859.4(PRICKLE2):c.1687C>T (p.Arg563Cys) rs1277522148 0.00001
NM_198859.4(PRICKLE2):c.1691A>G (p.Gln564Arg) rs372175446 0.00001
NM_198859.4(PRICKLE2):c.1858A>T (p.Asn620Tyr) rs757993759 0.00001
NM_198859.4(PRICKLE2):c.1876A>C (p.Asn626His) rs1227637171 0.00001
NM_198859.4(PRICKLE2):c.194A>G (p.Asn65Ser) rs1338458844 0.00001
NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly) rs748599215 0.00001
NM_198859.4(PRICKLE2):c.2088C>A (p.Asp696Glu) rs2076619479 0.00001
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr) rs763974341 0.00001
NM_198859.4(PRICKLE2):c.2113C>T (p.Arg705Cys) rs766598630 0.00001
NM_198859.4(PRICKLE2):c.2174A>G (p.Gln725Arg) rs1180228524 0.00001
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg) rs766757910 0.00001
NM_198859.4(PRICKLE2):c.2230C>A (p.Leu744Met) rs137975846 0.00001
NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu) rs762399074 0.00001
NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg) rs775889804 0.00001
NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser) rs1247504361 0.00001
NM_198859.4(PRICKLE2):c.481G>A (p.Val161Ile) rs773419206 0.00001
NM_198859.4(PRICKLE2):c.63G>C (p.Gln21His) rs752000702 0.00001
NM_198859.4(PRICKLE2):c.880G>A (p.Gly294Arg) rs765912174 0.00001
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser) rs1259379217 0.00001
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg) rs945463572 0.00001
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) rs751472303 0.00001
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) rs542541060 0.00001
NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu) rs780959799 0.00001
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe) rs1358742335 0.00001
NM_213720.3(CHCHD10):c.408T>C (p.His136=) rs113677828 0.00001
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) rs1197865297 0.00001
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser) rs927168789 0.00001
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val) rs1244878740 0.00001
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser) rs1297070374 0.00001
NC_000001.10:g.(?_154140413)_(154164494_?)dup
NC_000001.10:g.(?_154163642)_(154164494_?)del
NC_000001.10:g.(?_229567246)_(232172577_?)dup
NC_000001.10:g.(?_26128487)_(26128628_?)dup
NC_000001.11:g.(?_154191166)_(154192038_?)del
NC_000001.11:g.(?_229431489)_(229433125_?)dup
NC_000001.11:g.114695550A>G rs759414256
NC_000002.11:g.(?_127804599)_(127865903_?)del
NC_000002.11:g.(?_127806092)_(127834292_?)dup
NC_000002.11:g.(?_127806102)_(127864519_?)dup
NC_000002.11:g.(?_127806102)_(128432598_?)del
NC_000002.11:g.(?_127815029)_(127864539_?)dup
NC_000002.11:g.(?_127821127)_(127834302_?)dup
NC_000002.11:g.(?_127825719)_(127828412_?)dup
NC_000002.11:g.(?_127834182)_(127864519_?)dup
NC_000002.11:g.(?_127864416)_(127864519_?)dup
NC_000002.11:g.(?_152342274)_(152432888_?)dup
NC_000002.11:g.(?_152369227)_(152376302_?)del
NC_000002.11:g.(?_152466303)_(152477560_?)dup
NC_000002.11:g.(?_152470770)_(152471121_?)del
NC_000002.11:g.(?_152484352)_152490482del
NC_000002.11:g.(?_152539156)_(152539303_?)del
NC_000002.11:g.(?_170366289)_(170382206_?)dup
NC_000002.11:g.(?_179296824)_(179914668_?)dup
NC_000002.11:g.(?_179389716)_(179673150_?)dup
NC_000002.11:g.(?_179432520)_(179439230_?)del
NC_000002.11:g.(?_179460214)_(179487514_?)dup
NC_000002.11:g.(?_179480014)_(179501546_?)dup
NC_000002.11:g.(?_179480024)_(179501536_?)dup
NC_000002.11:g.(?_179485819)_(179486745_?)dup
NC_000002.11:g.(?_179485829)_(179486735_?)dup
NC_000002.11:g.(?_179489182)_(179501536_?)del
NC_000002.11:g.(?_179504005)_(179560850_?)del
NC_000002.11:g.(?_179505958)_(179515008_?)dup
NC_000002.11:g.(?_179505968)_(179514998_?)dup
NC_000002.11:g.(?_179511192)_(179518254_?)del
NC_000002.11:g.(?_179513965)_(179514068_?)del
NC_000002.11:g.(?_179517005)_(179517288_?)del
NC_000002.11:g.(?_179517165)_(179517483_?)dup
NC_000002.11:g.(?_179517165)_(179518254_?)dup
NC_000002.11:g.(?_179517945)_(179528263_?)del
NC_000002.11:g.(?_179528140)_(179559653_?)del
NC_000002.11:g.(?_179534935)_(179669369_?)del
NC_000002.11:g.(?_179542328)_(179542955_?)del
NC_000002.11:g.(?_179542832)_(179617927_?)del
NC_000002.11:g.(?_179549037)_(179550345_?)del
NC_000002.11:g.(?_179549960)_(179550345_?)del
NC_000002.11:g.(?_179550235)_(179550335_?)del
NC_000002.11:g.(?_179552838)_(179669369_?)del
NC_000002.11:g.(?_179555009)_(179560143_?)del
NC_000002.11:g.(?_179557204)_(179600821_?)dup
NC_000002.11:g.(?_179557214)_(179600811_?)dup
NC_000002.11:g.(?_179563550)_(179565950_?)del
NC_000002.11:g.(?_179565827)_(179567410_?)del
NC_000002.11:g.(?_179581802)_(179589285_?)dup
NC_000002.11:g.(?_179599275)_(179603834_?)del
NC_000002.11:g.(?_179648902)_(179655378_?)del
NC_000002.11:g.(?_179659854)_(179661632_?)del
NC_000002.11:g.(?_179669259)_(179669369_?)del
NC_000002.11:g.(?_220288441)_(220288541_?)dup
NC_000002.11:g.(?_237481970)_(238305480_?)dup
NC_000002.11:g.(?_238233407)_(238305470_?)dup
NC_000002.11:g.(?_238233417)_(238428692_?)dup
NC_000002.11:g.(?_238242073)_(238243552_?)del
NC_000002.11:g.(?_238272973)_(238281000_?)del
NC_000002.11:g.(?_238289548)_(238296837_?)del
NC_000002.11:g.(?_26414119)_(26418121_?)dup
NC_000002.11:g.(?_26512766)_(26512821_?)del
NC_000002.11:g.179534118_179534119insAlu
NC_000002.12:g.(?_127106850)_(127106953_?)dup
NC_000002.12:g.(?_151496266)_(151497728_?)del
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NC_000002.12:g.(?_151496931)_(151497043_?)del
NC_000002.12:g.(?_169509769)_(169525706_?)dup
NC_000002.12:g.(?_178535972)_(178536585_?)del
NC_000002.12:g.(?_178595497)_(178622777_?)dup
NC_000002.12:g.(?_178624445)_(178636819_?)del
NC_000002.12:g.(?_178652244)_(178653527_?)del
NC_000002.12:g.(?_178663423)_(178804652_?)del
NC_000002.12:g.(?_178671080)_(178672713_?)del
NC_000002.12:g.(?_178693912)_(178698924_?)del
NC_000002.12:g.(?_178709546)_(178711369_?)del
NC_000002.12:g.(?_178783700)_(178786161_?)del
NC_000002.12:g.(?_178804532)_(178804662_?)del
NC_000002.12:g.(?_219420241)_(219426000_?)dup
NC_000002.12:g.(?_219420485)_(219426000_?)dup
NC_000002.12:g.(?_236573327)_(237388194_?)dup
NC_000002.12:g.(?_237333450)_(237334889_?)del
NC_000002.12:g.178784352del rs2154350831
NC_000003.11:g.(?_42727101)_(42733495_?)dup
NC_000003.11:g.(?_42727111)_(42729814_?)dup
NC_000003.11:g.(?_42727111)_(42733485_?)dup
NC_000003.11:g.(?_42733354)_(42733485_?)dup
NC_000005.10:g.137881974_137881979del
NC_000005.9:g.(?_126769035)_(126778838_?)dup
NC_000005.9:g.(?_126783229)_(126784934_?)del
NC_000005.9:g.(?_137216485)_(137221922_?)del
NC_000006.11:g.(?_75796253)_(75855181_?)del
NC_000006.11:g.(?_75796263)_(75813546_?)dup
NC_000006.11:g.(?_75806949)_(75807042_?)del
NC_000006.11:g.(?_75833644)_(75847315_?)del
NC_000006.11:g.(?_75858054)_(75912508_?)dup
NC_000006.12:g.(?_75086537)_(75202802_?)dup
NC_000007.13:g.(?_128470672)_(128498597_?)dup
NC_000007.13:g.(?_128470692)_(128482448_?)dup
NC_000007.13:g.(?_128470692)_(128694824_?)dup
NC_000007.13:g.(?_128498042)_(128498291_?)dup
NC_000007.13:g.(?_128498042)_(128498577_?)dup
NC_000007.13:g.(?_128498042)_(128498597_?)dup
NC_000007.13:g.(?_128498052)_(128498587_?)dup
NC_000007.14:g.(?_128830628)_(128858533_?)dup
NC_000007.14:g.(?_128835316)_(128858533_?)dup
NC_000007.14:g.(?_128842221)_(128850084_?)del
NC_000007.14:g.(?_128852581)_(128858533_?)del
NC_000007.14:g.(?_128858326)_(128858533_?)del
NC_000010.10:g.(?_121410882)_(121429689_?)dup
NC_000010.10:g.(?_121411168)_(121429709_?)dup
NC_000010.10:g.(?_121411168)_(121436814_?)dup
NC_000010.10:g.(?_121411178)_(121436804_?)dup
NC_000010.10:g.(?_121429343)_(121432188_?)del
NC_000010.10:g.(?_121429353)_(121429699_?)dup
NC_000010.10:g.(?_121429353)_(121437012_?)dup
NC_000010.10:g.(?_121431747)_(121436794_?)dup
NC_000010.10:g.(?_88428443)_(88428547_?)dup
NC_000010.10:g.(?_88428449)_(88428561_?)dup
NC_000010.10:g.(?_88428449)_(88492733_?)del
NC_000010.10:g.(?_88469642)_(88469827_?)del
NC_000010.11:g.(?_119669831)_(119670197_?)del
NC_000010.11:g.(?_86668564)_(86700053_?)del
NC_000010.11:g.(?_86668672)_(86710070_?)del
NC_000011.10:g.(?_3856251)_(3856429_?)dup
NC_000011.10:g.(?_3856251)_(4091818_?)dup
NC_000011.10:g.(?_3967532)_(4091818_?)dup
NC_000011.9:g.(?_3832490)_(4113028_?)dup
NC_000011.9:g.(?_3877491)_(3877649_?)dup
NC_000011.9:g.(?_3877501)_(4113028_?)dup
NC_000011.9:g.(?_4112492)_(4113028_?)dup
NC_000011.9:g.(?_4112492)_(4113048_?)dup
NC_000012.11:g.(?_122078927)_(122079549_?)dup
NC_000012.11:g.(?_41302215)_(41365335_?)dup
NC_000012.11:g.(?_41408010)_(41423041_?)del
NC_000012.11:g.(?_57640567)_(57642001_?)del
NC_000012.11:g.(?_80128594)_(81102759_?)del
NC_000012.12:g.(?_40691442)_(41073412_?)dup
NC_000012.12:g.(?_57243443)_(57249646_?)dup
NC_000012.12:g.121626879_121626884delACCGCC
NC_000014.8:g.(?_35182051)_(35183766_?)dup
NC_000014.9:g.(?_34710372)_(34713686_?)dup
NC_000015.9:g.(?_65255951)_(65370540_?)del
NC_000016.10:g.(?_722760)_(726377_?)dup
NC_000016.9:g.(?_772770)_(776367_?)dup
NC_000017.10:g.(?_10424587)_(10428392_?)del
NC_000017.10:g.(?_10424597)_(10431211_?)del
NC_000017.10:g.(?_10424597)_(10433077_?)del
NC_000017.10:g.(?_10424597)_(10433411_?)del
NC_000017.10:g.(?_10431997)_(10433401_?)dup
NC_000017.10:g.(?_10432459)_(10433077_?)dup
NC_000017.10:g.(?_10432861)_(10433411_?)del
NC_000017.10:g.(?_10436582)_(10600824_?)dup
NC_000017.11:g.(?_10509485)_(10537835_?)del
NC_000017.11:g.(?_10521270)_(10537845_?)del
NC_000017.11:g.(?_10529152)_(10530084_?)dup
NC_000019.10:g.(?_55140863)_(55141322_?)del
NC_000019.9:g.(?_55644273)_(55768277_?)dup
NC_000019.9:g.(?_55644283)_(55668957_?)dup
NC_000021.8:g.(?_47400663)_(47425963_?)dup
NC_000021.8:g.(?_47401745)_(47532511_?)dup
NC_000021.8:g.(?_47401755)_(47546465_?)dup
NC_000021.8:g.(?_47410282)_(47410965_?)dup
NC_000021.8:g.(?_47410677)_(47410965_?)dup
NC_000021.8:g.(?_47417315)_(47423927_?)dup
NC_000021.8:g.(?_47423046)_(47429562_?)del
NC_000021.8:g.(?_47517033)_(47553763_?)dup
NC_000021.8:g.(?_47518024)_47552476dup
NC_000021.8:g.(?_47536545)_(47536748_?)dup
NC_000021.8:g.(?_47551858)_(47552476_?)dup
NC_000021.9:g.(?_45981831)_(46004033_?)dup
NC_000021.9:g.(?_46111467)_(46112834_?)dup
NC_000021.9:g.(?_46113998)_(46116063_?)dup
NC_000022.10:g.(?_24108011)_(24110169_?)dup
NC_000022.10:g.(?_24108174)_(24110081_?)dup
NC_000022.10:g.(?_24108194)_(24108482_?)del
NC_000022.10:g.(?_24109541)_(24110061_?)del
NC_000022.10:g.(?_24109541)_(24110081_?)del
NC_000022.11:g.(?_23765824)_(23767603_?)del
NC_000022.11:g.(?_23767364)_(23767982_?)del
NC_000023.10:g.(?_149613783)_(149840068_?)dup
NC_000023.10:g.(?_149761067)_(150573540_?)dup
NC_000023.10:g.(?_149761077)_(149787632_?)dup
NC_000023.10:g.(?_149783052)_(149840078_?)dup
NC_000023.10:g.(?_149807406)_(149814354_?)dup
NC_000023.10:g.(?_149839891)_(149840078_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153641545)_(153648084_?)dup
NC_000023.10:g.(?_153647862)_(153649343_?)dup
NM_000036.2(AMPD1):c.11G>A (p.Arg4Lys)
NM_000036.2(AMPD1):c.23G>T (p.Ser8Ile)
NM_000036.3(AMPD1):c.-15A>G
NM_000036.3(AMPD1):c.-42C>T
NM_000036.3(AMPD1):c.-45CTT[1]
NM_000036.3(AMPD1):c.-60dup rs770393080
NM_000036.3(AMPD1):c.1019C>T (p.Thr340Ile)
NM_000036.3(AMPD1):c.1030C>A (p.Leu344Ile) rs377513152
NM_000036.3(AMPD1):c.104G>A (p.Arg35His) rs147972392
NM_000036.3(AMPD1):c.104G>T (p.Arg35Leu) rs147972392
NM_000036.3(AMPD1):c.106C>T (p.Gln36Ter) rs746801564
NM_000036.3(AMPD1):c.1075T>C (p.Ser359Pro)
NM_000036.3(AMPD1):c.1084G>A (p.Val362Ile)
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
NM_000036.3(AMPD1):c.1118A>G (p.Asp373Gly)
NM_000036.3(AMPD1):c.1148G>A (p.Gly383Glu) rs769460760
NM_000036.3(AMPD1):c.1151C>A (p.Ala384Glu)
NM_000036.3(AMPD1):c.1158_1177del (p.Leu387fs)
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
NM_000036.3(AMPD1):c.1166A>T (p.Asp389Val)
NM_000036.3(AMPD1):c.1220T>C (p.Ile407Thr)
NM_000036.3(AMPD1):c.1224+6G>A
NM_000036.3(AMPD1):c.1224+6G>T
NM_000036.3(AMPD1):c.1225-16T>A
NM_000036.3(AMPD1):c.1235C>T (p.Ala412Val)
NM_000036.3(AMPD1):c.1259A>G (p.Gln420Arg) rs1207724365
NM_000036.3(AMPD1):c.1268A>C (p.Glu423Ala) rs2101713600
NM_000036.3(AMPD1):c.1276C>G (p.Leu426Val) rs1658021879
NM_000036.3(AMPD1):c.1302T>A (p.Asp434Glu)
NM_000036.3(AMPD1):c.1304A>G (p.Glu435Gly)
NM_000036.3(AMPD1):c.1319C>A (p.Ser440Tyr)
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile)
NM_000036.3(AMPD1):c.1339C>A (p.Arg447Ser)
NM_000036.3(AMPD1):c.1365G>A (p.Trp455Ter) rs1447749222
NM_000036.3(AMPD1):c.1366A>T (p.Met456Leu)
NM_000036.3(AMPD1):c.137T>G (p.Ile46Ser)
NM_000036.3(AMPD1):c.1381A>G (p.Arg461Gly) rs746166547
NM_000036.3(AMPD1):c.1383G>C (p.Arg461Ser) rs1371202947
NM_000036.3(AMPD1):c.1391A>G (p.Asp464Gly)
NM_000036.3(AMPD1):c.1420C>T (p.His474Tyr)
NM_000036.3(AMPD1):c.1465G>A (p.Ala489Thr)
NM_000036.3(AMPD1):c.146T>A (p.Ile49Asn)
NM_000036.3(AMPD1):c.1476C>A (p.Asn492Lys) rs1570838359
NM_000036.3(AMPD1):c.147_148insCGGACA (p.Ile49_Ser50insArgThr)
NM_000036.3(AMPD1):c.1490C>T (p.Pro497Leu)
NM_000036.3(AMPD1):c.1504T>C (p.Phe502Leu) rs966578460
NM_000036.3(AMPD1):c.1517T>C (p.Ile506Thr)
NM_000036.3(AMPD1):c.1529A>G (p.Asp510Gly)
NM_000036.3(AMPD1):c.1537G>A (p.Asp513Asn)
NM_000036.3(AMPD1):c.1562A>C (p.His521Pro) rs1156760290
NM_000036.3(AMPD1):c.1568T>C (p.Phe523Ser)
NM_000036.3(AMPD1):c.1583C>T (p.Pro528Leu)
NM_000036.3(AMPD1):c.1588C>T (p.Pro530Ser)
NM_000036.3(AMPD1):c.1637A>G (p.Tyr546Cys)
NM_000036.3(AMPD1):c.1659G>C (p.Met553Ile) rs1657954756
NM_000036.3(AMPD1):c.1679+1G>T
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
NM_000036.3(AMPD1):c.1685G>A (p.Arg562Gln)
NM_000036.3(AMPD1):c.1706T>A (p.Phe569Tyr)
NM_000036.3(AMPD1):c.1729G>A (p.Gly577Arg) rs2101711121
NM_000036.3(AMPD1):c.1739C>T (p.Thr580Ile)
NM_000036.3(AMPD1):c.1747A>T (p.Met583Leu)
NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr)
NM_000036.3(AMPD1):c.1772A>C (p.Asp591Ala)
NM_000036.3(AMPD1):c.1808T>G (p.Val603Gly)
NM_000036.3(AMPD1):c.1813C>A (p.Gln605Lys) rs1354176888
NM_000036.3(AMPD1):c.1813C>T (p.Gln605Ter) rs1354176888
NM_000036.3(AMPD1):c.1846G>A (p.Ala616Thr)
NM_000036.3(AMPD1):c.186G>T (p.Glu62Asp) rs1017107552
NM_000036.3(AMPD1):c.1873C>G (p.Leu625Val)
NM_000036.3(AMPD1):c.1886A>G (p.Tyr629Cys)
NM_000036.3(AMPD1):c.190_191del (p.Leu64fs)
NM_000036.3(AMPD1):c.193T>A (p.Ser65Thr)
NM_000036.3(AMPD1):c.1955T>A (p.Met652Lys)
NM_000036.3(AMPD1):c.1974+1G>C rs145328844
NM_000036.3(AMPD1):c.1974+7T>C
NM_000036.3(AMPD1):c.1979C>A (p.Pro660His) rs267597931
NM_000036.3(AMPD1):c.1979C>T (p.Pro660Leu) rs267597931
NM_000036.3(AMPD1):c.2005G>A (p.Ala669Thr) rs1657899229
NM_000036.3(AMPD1):c.2033A>G (p.Asp678Gly) rs2101710015
NM_000036.3(AMPD1):c.2036T>C (p.Met679Thr)
NM_000036.3(AMPD1):c.2041G>A (p.Glu681Lys)
NM_000036.3(AMPD1):c.2044G>C (p.Val682Leu)
NM_000036.3(AMPD1):c.2086-3T>C
NM_000036.3(AMPD1):c.2092G>C (p.Val698Leu)
NM_000036.3(AMPD1):c.2102T>A (p.Leu701Gln) rs759824860
NM_000036.3(AMPD1):c.2107G>A (p.Asp703Asn)
NM_000036.3(AMPD1):c.2116C>G (p.Leu706Val)
NM_000036.3(AMPD1):c.2126G>A (p.Gly709Asp)
NM_000036.3(AMPD1):c.2135G>A (p.Gly712Glu)
NM_000036.3(AMPD1):c.215+1G>A
NM_000036.3(AMPD1):c.215+6T>C
NM_000036.3(AMPD1):c.216-17T>G
NM_000036.3(AMPD1):c.216-2del
NM_000036.3(AMPD1):c.2170C>T (p.Arg724Cys)
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
NM_000036.3(AMPD1):c.2171G>C (p.Arg724Pro)
NM_000036.3(AMPD1):c.2171G>T (p.Arg724Leu) rs146036570
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
NM_000036.3(AMPD1):c.21A>C (p.Pro7=)
NM_000036.3(AMPD1):c.2224G>C (p.Gly742Arg)
NM_000036.3(AMPD1):c.231_243del (p.Gly78fs)
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) rs200543002
NM_000036.3(AMPD1):c.247A>G (p.Asn83Asp) rs749940824
NM_000036.3(AMPD1):c.285A>C (p.Lys95Asn)
NM_000036.3(AMPD1):c.2T>G (p.Met1Arg) rs2101730071
NM_000036.3(AMPD1):c.301G>C (p.Glu101Gln)
NM_000036.3(AMPD1):c.301G>T (p.Glu101Ter)
NM_000036.3(AMPD1):c.308T>C (p.Ile103Thr)
NM_000036.3(AMPD1):c.328C>G (p.Gln110Glu) rs1284363894
NM_000036.3(AMPD1):c.34+3G>A
NM_000036.3(AMPD1):c.34+5G>A
NM_000036.3(AMPD1):c.343T>A (p.Phe115Ile)
NM_000036.3(AMPD1):c.35-3T>C
NM_000036.3(AMPD1):c.351_352del (p.Arg117fs)
NM_000036.3(AMPD1):c.381G>A (p.Gly127=)
NM_000036.3(AMPD1):c.428C>A (p.Ala143Glu)
NM_000036.3(AMPD1):c.461C>T (p.Ser154Leu)
NM_000036.3(AMPD1):c.499C>T (p.Arg167Trp)
NM_000036.3(AMPD1):c.4C>T (p.Pro2Ser)
NM_000036.3(AMPD1):c.507T>G (p.Ile169Met) rs542684385
NM_000036.3(AMPD1):c.520T>C (p.Trp174Arg)
NM_000036.3(AMPD1):c.53G>T (p.Arg18Leu)
NM_000036.3(AMPD1):c.586C>T (p.Arg196Ter) rs775029965
NM_000036.3(AMPD1):c.589A>G (p.Thr197Ala)
NM_000036.3(AMPD1):c.592G>C (p.Asp198His) rs267597934
NM_000036.3(AMPD1):c.607A>T (p.Asn203Tyr)
NM_000036.3(AMPD1):c.62C>T (p.Ala21Val) rs1570852851
NM_000036.3(AMPD1):c.638G>T (p.Gly213Val)
NM_000036.3(AMPD1):c.643G>A (p.Val215Ile) rs1165630426
NM_000036.3(AMPD1):c.653A>G (p.Tyr218Cys)
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
NM_000036.3(AMPD1):c.670G>C (p.Val224Leu)
NM_000036.3(AMPD1):c.716C>T (p.Thr239Ile)
NM_000036.3(AMPD1):c.727G>T (p.Asp243Tyr)
NM_000036.3(AMPD1):c.740dup (p.Leu247fs)
NM_000036.3(AMPD1):c.746C>T (p.Ala249Val)
NM_000036.3(AMPD1):c.754G>T (p.Ala252Ser)
NM_000036.3(AMPD1):c.759A>T (p.Gln253His)
NM_000036.3(AMPD1):c.767+3_767+6del rs749694988
NM_000036.3(AMPD1):c.768-2A>G
NM_000036.3(AMPD1):c.769A>C (p.Lys257Gln) rs750114853
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
NM_000036.3(AMPD1):c.773C>T (p.Thr258Ile) rs1161639285
NM_000036.3(AMPD1):c.779C>T (p.Thr260Ile)
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
NM_000036.3(AMPD1):c.791T>C (p.Leu264Pro)
NM_000036.3(AMPD1):c.79T>C (p.Ser27Pro)
NM_000036.3(AMPD1):c.829C>T (p.Leu277Phe) rs2101715947
NM_000036.3(AMPD1):c.843C>G (p.Asp281Glu) rs145030449
NM_000036.3(AMPD1):c.857T>A (p.Leu286Gln) rs2101715885
NM_000036.3(AMPD1):c.874C>T (p.Arg292Ter)
NM_000036.3(AMPD1):c.89A>T (p.Lys30Ile)
NM_000036.3(AMPD1):c.905C>T (p.Thr302Ile)
NM_000036.3(AMPD1):c.910A>G (p.Ile304Val)
NM_000036.3(AMPD1):c.922G>A (p.Ala308Thr)
NM_000036.3(AMPD1):c.929T>C (p.Met310Thr)
NM_000036.3(AMPD1):c.92A>G (p.Asp31Gly) rs201837665
NM_000036.3(AMPD1):c.92A>T (p.Asp31Val)
NM_000036.3(AMPD1):c.933C>G (p.Asn311Lys)
NM_000036.3(AMPD1):c.997A>G (p.Ser333Gly)
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
NM_000116.5(TAFAZZIN):c.110-18C>T
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) rs2068328744
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) rs1322365208
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) rs2068329796
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) rs878853654
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
NM_000116.5(TAFAZZIN):c.284+3G>C rs1569552708
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
NM_000116.5(TAFAZZIN):c.370+2T>A
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) rs2068411768
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) rs2068412679
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) rs2068414496
NM_000116.5(TAFAZZIN):c.461-10_461-5del
NM_000116.5(TAFAZZIN):c.461-3C>A
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) rs1227132566
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
NM_000116.5(TAFAZZIN):c.541+13_541+28del
NM_000116.5(TAFAZZIN):c.541+5G>A rs2068571041
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
NM_000116.5(TAFAZZIN):c.542-3C>T
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
NM_000116.5(TAFAZZIN):c.699+6T>G
NM_000116.5(TAFAZZIN):c.700-13G>A
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) rs372689133
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) rs2068605582
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) rs2068606445
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
NM_000116.5(TAFAZZIN):c.777+3G>A rs2068606988
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) rs1025920600
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg) rs757845324
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu) rs370054250
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu) rs770219903
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
NM_000182.5(HADHA):c.1393-3C>T
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu) rs1226499517
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro) rs1669713015
NM_000182.5(HADHA):c.1480-139C>G
NM_000182.5(HADHA):c.1480-3C>T
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser) rs2147785483
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys) rs2147753043
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.1729A>T (p.Ser577Cys)
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala) rs1574602341
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly) rs1574602310
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe) rs1669530829
NM_000182.5(HADHA):c.2000+5G>C
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala) rs1669507749
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu) rs1204190984
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile) rs2147749338
NM_000182.5(HADHA):c.2146+19G>C
NM_000182.5(HADHA):c.2147-2A>G
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser) rs141164185
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg) rs2147784395
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe) rs758107197
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr) rs1670643151
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
NM_000182.5(HADHA):c.573G>A (p.Met191Ile) rs2147781167
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
NM_000182.5(HADHA):c.743C>T (p.Ala248Val) rs199688741
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn) rs1490396477
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
NM_000182.5(HADHA):c.799+5G>A
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr) rs1574615066
NM_000182.5(HADHA):c.80G>A (p.Arg27His) rs200145855
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
NM_000182.5(HADHA):c.995T>G (p.Met332Arg) rs752285354
NM_000183.3(HADHB):c.1044A>C (p.Lys348Asn) rs1038882025
NM_000183.3(HADHB):c.1048C>A (p.Gln350Lys)
NM_000183.3(HADHB):c.1061+3A>G
NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)
NM_000183.3(HADHB):c.109+4C>T rs769724590
NM_000183.3(HADHB):c.109+5A>G
NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)
NM_000183.3(HADHB):c.1110G>C (p.Met370Ile)
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr) rs1558360702
NM_000183.3(HADHB):c.1128T>G (p.Phe376Leu) rs2147831395
NM_000183.3(HADHB):c.112G>T (p.Val38Phe)
NM_000183.3(HADHB):c.1142C>T (p.Ala381Val) rs774703599
NM_000183.3(HADHB):c.1149+4A>G rs2303893
NM_000183.3(HADHB):c.1180G>T (p.Asp394Tyr)
NM_000183.3(HADHB):c.1186G>T (p.Asp396Tyr) rs2147832336
NM_000183.3(HADHB):c.1203C>A (p.Asn401Lys)
NM_000183.3(HADHB):c.1279G>A (p.Gly427Arg)
NM_000183.3(HADHB):c.1319C>G (p.Ala440Gly)
NM_000183.3(HADHB):c.1321G>A (p.Ala441Thr)
NM_000183.3(HADHB):c.1357G>A (p.Gly453Ser)
NM_000183.3(HADHB):c.1387C>G (p.Gln463Glu)
NM_000183.3(HADHB):c.1399A>G (p.Met467Val)
NM_000183.3(HADHB):c.1405G>A (p.Val469Met) rs1673196031
NM_000183.3(HADHB):c.1409A>C (p.Glu470Ala) rs2147837732
NM_000183.3(HADHB):c.150T>A (p.Asn50Lys)
NM_000183.3(HADHB):c.166G>T (p.Val56Leu)
NM_000183.3(HADHB):c.206C>G (p.Thr69Ser)
NM_000183.3(HADHB):c.210-17T>A
NM_000183.3(HADHB):c.214A>G (p.Lys72Glu)
NM_000183.3(HADHB):c.221T>G (p.Leu74Arg)
NM_000183.3(HADHB):c.223A>T (p.Met75Leu)
NM_000183.3(HADHB):c.254C>T (p.Thr85Met)
NM_000183.3(HADHB):c.260T>C (p.Leu87Ser) rs1171889657
NM_000183.3(HADHB):c.299A>G (p.Tyr100Cys)
NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
NM_000183.3(HADHB):c.346G>T (p.Ala116Ser) rs766228457
NM_000183.3(HADHB):c.355-12T>C
NM_000183.3(HADHB):c.388C>T (p.Pro130Ser)
NM_000183.3(HADHB):c.431C>T (p.Ala144Val) rs1672561193
NM_000183.3(HADHB):c.443-10T>A
NM_000183.3(HADHB):c.481G>A (p.Val161Met)
NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)
NM_000183.3(HADHB):c.508G>A (p.Asp170Asn)
NM_000183.3(HADHB):c.556C>G (p.Leu186Val)
NM_000183.3(HADHB):c.632T>A (p.Leu211His) rs1446857112
NM_000183.3(HADHB):c.652T>C (p.Ser218Pro)
NM_000183.3(HADHB):c.658A>G (p.Ser220Gly)
NM_000183.3(HADHB):c.65C>G (p.Ser22Cys) rs1671530038
NM_000183.3(HADHB):c.679G>A (p.Ala227Thr)
NM_000183.3(HADHB):c.694G>T (p.Ala232Ser) rs987203346
NM_000183.3(HADHB):c.710C>G (p.Ser237Cys)
NM_000183.3(HADHB):c.716T>C (p.Leu239Pro)
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr) rs770044899
NM_000183.3(HADHB):c.80G>C (p.Ser27Thr)
NM_000183.3(HADHB):c.832G>C (p.Asp278His) rs982733832
NM_000183.3(HADHB):c.863A>G (p.Gln288Arg)
NM_000183.3(HADHB):c.91C>G (p.Gln31Glu)
NM_000183.3(HADHB):c.923C>A (p.Ser308Tyr)
NM_000183.3(HADHB):c.930C>A (p.Phe310Leu)
NM_000183.3(HADHB):c.933+6del
NM_000183.3(HADHB):c.944C>T (p.Ala315Val)
NM_000183.3(HADHB):c.953T>G (p.Met318Arg) rs2147829865
NM_000183.3(HADHB):c.965C>A (p.Ala322Glu)
NM_000183.3(HADHB):c.982G>A (p.Ala328Thr)
NM_000183.3(HADHB):c.989G>A (p.Gly330Asp) rs1349682003
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys) rs727504019
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
NM_000252.3(MTM1):c.1084G>C (p.Asp362His) rs2148508579
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg) rs2148508637
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn) rs2040151430
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
NM_000252.3(MTM1):c.1353+4A>C
NM_000252.3(MTM1):c.136+5G>A
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys) rs398123269
NM_000252.3(MTM1):c.137-7T>G rs587783784
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
NM_000252.3(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala) rs2040200948
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu) rs2040257723
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg) rs2148515610
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) rs1569565536
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu) rs868972342
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu) rs2148515723
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys) rs1603214706
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala) rs1195705222
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
NM_000252.3(MTM1):c.397A>G (p.Met133Val) rs2039434563
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro) rs2148461766
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro) rs1557413215
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly) rs964287315
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
NM_000252.3(MTM1):c.530G>T (p.Gly177Val) rs1603187659
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr) rs587783832
NM_000252.3(MTM1):c.543C>G (p.His181Gln) rs1603187692
NM_000252.3(MTM1):c.544C>T (p.His182Tyr) rs2148488398
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu) rs2148488427
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
NM_000252.3(MTM1):c.5C>T (p.Ala2Val) rs1603118990
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys) rs2148425592
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
NM_000252.3(MTM1):c.678+5G>A
NM_000252.3(MTM1):c.678+6T>A rs2039847628
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly) rs2148493156
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del) rs1603124011
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg) rs2148493317
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr) rs2148497733
NM_000252.3(MTM1):c.905A>G (p.His302Arg) rs2148497756
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln) rs587783861
NM_000252.3(MTM1):c.944A>G (p.His315Arg) rs2148497817
NM_000252.3(MTM1):c.946G>A (p.Val316Ile) rs2148497828
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp) rs2039989751
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu) rs2148497898
NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn) rs1553255306
NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)
NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)
NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp) rs1558081360
NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs) rs2102735016
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys) rs2102736568
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala) rs1659934469
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile) rs745494410
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr) rs1553255290
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp) rs2102736562
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg) rs1659984455
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly) rs1429699993
NM_001100.4(ACTA1):c.129+4A>T
NM_001100.4(ACTA1):c.130-11C>A
NM_001100.4(ACTA1):c.130-3C>T
NM_001100.4(ACTA1):c.130G>T (p.Gly44Cys) rs1131691941
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val) rs1558082125
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile) rs398123562
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys) rs1558082103
NM_001100.4(ACTA1):c.153G>C (p.Gln51His) rs2102736429
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile) rs2102736399
NM_001100.4(ACTA1):c.215C>T (p.Pro72Leu)
NM_001100.4(ACTA1):c.220G>C rs727503798
NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)
NM_001100.4(ACTA1):c.307C>T (p.His103Tyr)
NM_001100.4(ACTA1):c.311C>A (p.Pro104His)
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile) rs1659976518
NM_001100.4(ACTA1):c.331_348del (p.Pro111_Ala116del)
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile) rs146508471
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser) rs1659975786
NM_001100.4(ACTA1):c.349A>T (p.Asn117Tyr)
NM_001100.4(ACTA1):c.358A>C (p.Lys120Gln)
NM_001100.4(ACTA1):c.370A>G (p.Ile124Val)
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn) rs1571894217
NM_001100.4(ACTA1):c.391G>A (p.Val131Met) rs1273559032
NM_001100.4(ACTA1):c.3G>A (p.Met1Ile)
NM_001100.4(ACTA1):c.407T>C (p.Val136Ala)
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr) rs2102736617
NM_001100.4(ACTA1):c.410C>A (p.Ala137Asp)
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg) rs1553255482
NM_001100.4(ACTA1):c.428C>T (p.Ser143Phe)
NM_001100.4(ACTA1):c.431T>C (p.Leu144Pro)
NM_001100.4(ACTA1):c.434A>T (p.Tyr145Phe)
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val) rs1659973054
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg) rs398123563
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys) rs398123564
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn) rs2102736155
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.453C>T (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.455-20TC[2]
NM_001100.4(ACTA1):c.455-7C>A
NM_001100.4(ACTA1):c.491A>G (p.Asn164Ser)
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val) rs587780272
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met) rs2102735941
NM_001100.4(ACTA1):c.532A>C (p.Met178Leu)
NM_001100.4(ACTA1):c.575T>C (p.Met192Thr) rs1057523333
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile) rs2102735869
NM_001100.4(ACTA1):c.616+4C>G rs371799971
NM_001100.4(ACTA1):c.616+4C>T rs371799971
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr) rs1659986179
NM_001100.4(ACTA1):c.627G>T (p.Glu209Asp)
NM_001100.4(ACTA1):c.64G>T (p.Gly22Cys)
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe) rs1571893107
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys) rs1057521118
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn) rs2102735641
NM_001100.4(ACTA1):c.69C>A (p.Phe23Leu)
NM_001100.4(ACTA1):c.709T>C (p.Ser237Pro)
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro) rs1571893051
NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) rs367543051
NM_001100.4(ACTA1):c.727G>C (p.Glu243Gln)
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.738C>G (p.Asp246Glu)
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys) rs1659954634
NM_001100.4(ACTA1):c.751A>T (p.Thr251Ser)
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys) rs2102735572
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser) rs1553255405
NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu)
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys) rs2102735536
NM_001100.4(ACTA1):c.805A>G (p.Ile269Val)
NM_001100.4(ACTA1):c.808+3G>A rs549268481
NM_001100.4(ACTA1):c.809-10C>A rs1659945481
NM_001100.4(ACTA1):c.809-9G>A
NM_001100.4(ACTA1):c.811A>G (p.Met271Val) rs1553255361
NM_001100.4(ACTA1):c.819_820delinsTT (p.Ala274Ser)
NM_001100.4(ACTA1):c.81C>A (p.Asp27Glu) rs1553255533
NM_001100.4(ACTA1):c.82G>A (p.Ala28Thr)
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys) rs2102736585
NM_001100.4(ACTA1):c.836C>A (p.Thr279Asn)
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn) rs1659943773
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys) rs533868659
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe) rs1553255349
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp) rs2102735242
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His) rs2102735230
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del) rs1553255336
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val) rs1659940726
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln) rs1571892527
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile) rs1553255334
NM_001100.4(ACTA1):c.983_985del (p.Lys328del) rs1659939983
NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)
NM_001100.4(ACTA1):c.986_989dup (p.Lys330fs)
NM_001100.4(ACTA1):c.990+3G>T
NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del) rs2086974277
NM_001101362.3(KBTBD13):c.1001C>A (p.Ala334Asp)
NM_001101362.3(KBTBD13):c.1001C>T (p.Ala334Val) rs200804273
NM_001101362.3(KBTBD13):c.1005_1006delinsAA (p.Leu336Met) rs2140545326
NM_001101362.3(KBTBD13):c.1006C>A (p.Leu336Met) rs1131691634
NM_001101362.3(KBTBD13):c.1006C>G (p.Leu336Val) rs1131691634
NM_001101362.3(KBTBD13):c.1020G>C (p.Gln340His)
NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)
NM_001101362.3(KBTBD13):c.1034G>C (p.Cys345Ser)
NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe)
NM_001101362.3(KBTBD13):c.1044C>G (p.Ala348=)
NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys)
NM_001101362.3(KBTBD13):c.1066G>C (p.Val356Leu)
NM_001101362.3(KBTBD13):c.1069C>T (p.Arg357Cys)
NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His) rs779342567
NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)
NM_001101362.3(KBTBD13):c.1150G>A (p.Gly384Ser)
NM_001101362.3(KBTBD13):c.1158C>G (p.Phe386Leu)
NM_001101362.3(KBTBD13):c.115G>T (p.Gly39Cys) rs201420126
NM_001101362.3(KBTBD13):c.1171G>A (p.Gly391Arg)
NM_001101362.3(KBTBD13):c.1184C>G (p.Thr395Arg) rs758995387
NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val)
NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val) rs1479237002
NM_001101362.3(KBTBD13):c.1196G>A (p.Arg399His)
NM_001101362.3(KBTBD13):c.1209C>G (p.Val403=)
NM_001101362.3(KBTBD13):c.1222dup (p.Arg408fs)
NM_001101362.3(KBTBD13):c.1240T>C (p.Tyr414His) rs1555407759
NM_001101362.3(KBTBD13):c.1249G>C (p.Glu417Gln)
NM_001101362.3(KBTBD13):c.1274G>C (p.Arg425Thr)
NM_001101362.3(KBTBD13):c.1292C>T (p.Pro431Leu)
NM_001101362.3(KBTBD13):c.1297C>T (p.Pro433Ser) rs1555407773
NM_001101362.3(KBTBD13):c.1307T>A (p.Leu436Ter) rs2140546093
NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln)
NM_001101362.3(KBTBD13):c.1334C>A (p.Pro445His) rs192406963
NM_001101362.3(KBTBD13):c.1356T>G (p.Thr452=)
NM_001101362.3(KBTBD13):c.1358C>G (p.Ser453Trp)
NM_001101362.3(KBTBD13):c.1361C>T (p.Thr454Ile)
NM_001101362.3(KBTBD13):c.1366del (p.Ala456fs)
NM_001101362.3(KBTBD13):c.136G>C (p.Ala46Pro)
NM_001101362.3(KBTBD13):c.1373T>C (p.Leu458Pro) rs2140546272
NM_001101362.3(KBTBD13):c.139G>A (p.Glu47Lys)
NM_001101362.3(KBTBD13):c.13C>G (p.Pro5Ala) rs2086975088
NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly)
NM_001101362.3(KBTBD13):c.143T>C (p.Val48Ala)
NM_001101362.3(KBTBD13):c.145C>T (p.Arg49Cys)
NM_001101362.3(KBTBD13):c.146G>C (p.Arg49Pro)
NM_001101362.3(KBTBD13):c.146G>T (p.Arg49Leu) rs1027726798
NM_001101362.3(KBTBD13):c.152G>C (p.Gly51Ala)
NM_001101362.3(KBTBD13):c.164C>T (p.Ala55Val) rs757684085
NM_001101362.3(KBTBD13):c.170del (p.Gly57fs) rs1555407559
NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu)
NM_001101362.3(KBTBD13):c.175C>G (p.Arg59Gly)
NM_001101362.3(KBTBD13):c.175C>T (p.Arg59Cys) rs1406748219
NM_001101362.3(KBTBD13):c.176G>A (p.Arg59His)
NM_001101362.3(KBTBD13):c.178G>C (p.Ala60Pro)
NM_001101362.3(KBTBD13):c.182C>T (p.Thr61Met)
NM_001101362.3(KBTBD13):c.191T>G (p.Val64Gly)
NM_001101362.3(KBTBD13):c.194T>C (p.Leu65Pro)
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) rs939242678
NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser)
NM_001101362.3(KBTBD13):c.206G>C (p.Arg69Pro)
NM_001101362.3(KBTBD13):c.209C>G (p.Pro70Arg) rs766269932
NM_001101362.3(KBTBD13):c.209C>T (p.Pro70Leu) rs766269932
NM_001101362.3(KBTBD13):c.217G>A (p.Ala73Thr) rs1313295854
NM_001101362.3(KBTBD13):c.218C>A (p.Ala73Glu)
NM_001101362.3(KBTBD13):c.225G>C (p.Glu75Asp)
NM_001101362.3(KBTBD13):c.226G>A (p.Asp76Asn) rs1258831129
NM_001101362.3(KBTBD13):c.229G>C (p.Glu77Gln)
NM_001101362.3(KBTBD13):c.229_271dup (p.Pro91fs) rs1401828622
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.3(KBTBD13):c.23T>C (p.Leu8Pro)
NM_001101362.3(KBTBD13):c.241_242insTCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGG (p.Gln80_Ala81insValValGluCysAlaAlaPheLeuGlnAlaProAlaLeuAlaAlaGluAspGluLeuLeuGln)
NM_001101362.3(KBTBD13):c.247G>T (p.Glu83Ter) rs781438362
NM_001101362.3(KBTBD13):c.253G>A (p.Ala85Thr) rs1595912432
NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu)
NM_001101362.3(KBTBD13):c.269C>T (p.Ala90Val)
NM_001101362.3(KBTBD13):c.272_286dup (p.Arg95_Phe96insSerAlaLeuAlaArg)
NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)
NM_001101362.3(KBTBD13):c.283C>T (p.Arg95Cys)
NM_001101362.3(KBTBD13):c.291G>C (p.Leu97=)
NM_001101362.3(KBTBD13):c.292G>A (p.Glu98Lys) rs752222694
NM_001101362.3(KBTBD13):c.292G>C (p.Glu98Gln)
NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)
NM_001101362.3(KBTBD13):c.314A>T (p.Asn105Ile) rs2086983386
NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met)
NM_001101362.3(KBTBD13):c.320C>G (p.Ala107Gly) rs1264692363
NM_001101362.3(KBTBD13):c.325_327dup (p.Leu109_Cys110insLeu)
NM_001101362.3(KBTBD13):c.331G>C (p.Asp111His)
NM_001101362.3(KBTBD13):c.331G>T (p.Asp111Tyr)
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
NM_001101362.3(KBTBD13):c.340G>C (p.Ala114Pro) rs1344068633
NM_001101362.3(KBTBD13):c.348C>A (p.Phe116Leu) rs1222501717
NM_001101362.3(KBTBD13):c.34T>G (p.Trp12Gly)
NM_001101362.3(KBTBD13):c.350_351delinsCA (p.Gly117Ala) rs2086984445
NM_001101362.3(KBTBD13):c.355C>G (p.Arg119Gly) rs1222805926
NM_001101362.3(KBTBD13):c.360C>G (p.Asp120Glu)
NM_001101362.3(KBTBD13):c.374C>G (p.Ala125Gly) rs575149903
NM_001101362.3(KBTBD13):c.381_382dup (p.Phe128fs)
NM_001101362.3(KBTBD13):c.387C>G (p.Ile129Met) rs1246047806
NM_001101362.3(KBTBD13):c.389G>C (p.Cys130Ser) rs1316788781
NM_001101362.3(KBTBD13):c.392A>C (p.Asp131Ala)
NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys) rs192935606
NM_001101362.3(KBTBD13):c.400C>G (p.Arg134Gly)
NM_001101362.3(KBTBD13):c.405G>C (p.Glu135Asp) rs2086986320
NM_001101362.3(KBTBD13):c.40G>A (p.Gly14Ser)
NM_001101362.3(KBTBD13):c.412_423dup (p.Ala138_Ala141dup) rs2086986389
NM_001101362.3(KBTBD13):c.415G>A (p.Glu139Lys) rs1244821047
NM_001101362.3(KBTBD13):c.423G>A (p.Ala141=)
NM_001101362.3(KBTBD13):c.424C>A (p.Leu142Met) rs1476921965
NM_001101362.3(KBTBD13):c.432G>C (p.Glu144Asp)
NM_001101362.3(KBTBD13):c.434C>A (p.Ala145Asp)
NM_001101362.3(KBTBD13):c.439G>A (p.Ala147Thr)
NM_001101362.3(KBTBD13):c.444C>G (p.Tyr148Ter)
NM_001101362.3(KBTBD13):c.449C>T (p.Ala150Val)
NM_001101362.3(KBTBD13):c.470A>T (p.Tyr157Phe) rs1481116487
NM_001101362.3(KBTBD13):c.471C>G (p.Tyr157Ter) rs550724858
NM_001101362.3(KBTBD13):c.473_474del (p.Ala158fs)
NM_001101362.3(KBTBD13):c.475G>A (p.Ala159Thr) rs2140544169
NM_001101362.3(KBTBD13):c.475_478dup (p.Val160fs)
NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer) rs1555407608
NM_001101362.3(KBTBD13):c.481A>T (p.Ser161Cys)
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) rs777916743
NM_001101362.3(KBTBD13):c.521C>G (p.Ser174Trp) rs772025364
NM_001101362.3(KBTBD13):c.521C>T (p.Ser174Leu) rs772025364
NM_001101362.3(KBTBD13):c.524G>C (p.Arg175Pro) rs1226640143
NM_001101362.3(KBTBD13):c.527C>T (p.Thr176Met)
NM_001101362.3(KBTBD13):c.537C>G (p.Tyr179Ter) rs1465166108
NM_001101362.3(KBTBD13):c.541G>T (p.Asp181Tyr)
NM_001101362.3(KBTBD13):c.544G>T (p.Glu182Ter) rs952061379
NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp) rs1595912705
NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His)
NM_001101362.3(KBTBD13):c.571G>C (p.Ala191Pro) rs2086990576
NM_001101362.3(KBTBD13):c.572C>G (p.Ala191Gly) rs1014978095
NM_001101362.3(KBTBD13):c.580C>T (p.Pro194Ser)
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu) rs1481658087
NM_001101362.3(KBTBD13):c.589G>A (p.Ala197Thr)
NM_001101362.3(KBTBD13):c.592A>G (p.Ser198Gly)
NM_001101362.3(KBTBD13):c.594C>G (p.Ser198Arg) rs1365801743
NM_001101362.3(KBTBD13):c.607G>A (p.Gly203Arg) rs944113571
NM_001101362.3(KBTBD13):c.607_615del (p.Gly203_Ala205del) rs1595912738
NM_001101362.3(KBTBD13):c.610G>A (p.Val204Met)
NM_001101362.3(KBTBD13):c.614C>T (p.Ala205Val)
NM_001101362.3(KBTBD13):c.623G>A (p.Gly208Asp) rs1198118426
NM_001101362.3(KBTBD13):c.625A>T (p.Asn209Tyr)
NM_001101362.3(KBTBD13):c.626A>G (p.Asn209Ser) rs1039913863
NM_001101362.3(KBTBD13):c.627C>T (p.Asn209=)
NM_001101362.3(KBTBD13):c.640G>A (p.Val214Met)
NM_001101362.3(KBTBD13):c.653G>A (p.Arg218His)
NM_001101362.3(KBTBD13):c.656G>C (p.Gly219Ala)
NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu)
NM_001101362.3(KBTBD13):c.697C>A (p.Pro233Thr)
NM_001101362.3(KBTBD13):c.700G>A (p.Asp234Asn)
NM_001101362.3(KBTBD13):c.702C>G (p.Asp234Glu) rs761192296
NM_001101362.3(KBTBD13):c.703G>A (p.Gly235Ser) rs1278649126
NM_001101362.3(KBTBD13):c.706G>A (p.Gly236Ser)
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.3(KBTBD13):c.738G>A (p.Gln246=)
NM_001101362.3(KBTBD13):c.740C>G (p.Pro247Arg)
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.3(KBTBD13):c.746A>G (p.Tyr249Cys)
NM_001101362.3(KBTBD13):c.751A>C (p.Thr251Pro)
NM_001101362.3(KBTBD13):c.752_753del (p.Thr251fs) rs770027984
NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu) rs2140543014
NM_001101362.3(KBTBD13):c.768C>A (p.Phe256Leu)
NM_001101362.3(KBTBD13):c.769G>A (p.Asp257Asn) rs568675071
NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met) rs775846405
NM_001101362.3(KBTBD13):c.782A>G (p.Tyr261Cys) rs958756775
NM_001101362.3(KBTBD13):c.784G>A (p.Ala262Thr)
NM_001101362.3(KBTBD13):c.797_798delinsTG (p.Glu266Val)
NM_001101362.3(KBTBD13):c.823G>C (p.Val275Leu) rs1566960251
NM_001101362.3(KBTBD13):c.829C>G (p.Arg277Gly) rs754708028
NM_001101362.3(KBTBD13):c.83A>G (p.His28Arg)
NM_001101362.3(KBTBD13):c.842C>T (p.Ala281Val) rs1171797812
NM_001101362.3(KBTBD13):c.843C>T (p.Ala281=)
NM_001101362.3(KBTBD13):c.847G>A (p.Gly283Ser) rs770737413
NM_001101362.3(KBTBD13):c.861C>G (p.Phe287Leu) rs777259450
NM_001101362.3(KBTBD13):c.862G>A (p.Val288Met)
NM_001101362.3(KBTBD13):c.86del (p.Cys29fs) rs1191393272
NM_001101362.3(KBTBD13):c.886G>A (p.Ala296Thr)
NM_001101362.3(KBTBD13):c.887C>T (p.Ala296Val) rs1469851032
NM_001101362.3(KBTBD13):c.888del (p.Gly297fs)
NM_001101362.3(KBTBD13):c.925G>C (p.Val309Leu) rs532324778
NM_001101362.3(KBTBD13):c.938G>T (p.Arg313Leu) rs1399367095
NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser) rs2086999390
NM_001101362.3(KBTBD13):c.946G>A (p.Asp316Asn) rs2140545192
NM_001101362.3(KBTBD13):c.949del (p.Thr317fs) rs2140545202
NM_001101362.3(KBTBD13):c.958G>C (p.Val320Leu)
NM_001101362.3(KBTBD13):c.965_975del (p.Glu322fs) rs2087000027
NM_001101362.3(KBTBD13):c.970G>A (p.Ala324Thr) rs1216341966
NM_001101362.3(KBTBD13):c.977G>C (p.Arg326Pro) rs779729198
NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly)
NM_001101362.3(KBTBD13):c.985G>T (p.Ala329Ser) rs1158844505
NM_001101362.3(KBTBD13):c.988T>A (p.Trp330Arg)
NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln) rs200548009
NM_001101362.3(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021
NM_001164507.2(NEB):c.21348T>G (p.Asp7116Glu) rs199934793
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
NM_001164507.2(NEB):c.21397G>T (p.Ala7133Ser) rs988993094
NM_001164508.2(NEB):c.10007T>C (p.Leu3336Pro) rs1392434296
NM_001164508.2(NEB):c.10012G>A (p.Val3338Met) rs534475193
NM_001164508.2(NEB):c.10015G>T (p.Val3339Leu)
NM_001164508.2(NEB):c.10021G>T (p.Ala3341Ser) rs1574279999
NM_001164508.2(NEB):c.10036A>G (p.Thr3346Ala) rs2098550963
NM_001164508.2(NEB):c.10048G>A (p.Asp3350Asn) rs377180119
NM_001164508.2(NEB):c.1004T>A (p.Met335Lys)
NM_001164508.2(NEB):c.10056C>G (p.Asp3352Glu)
NM_001164508.2(NEB):c.10058A>G (p.Tyr3353Cys)
NM_001164508.2(NEB):c.10061A>G (p.Lys3354Arg)
NM_001164508.2(NEB):c.10080G>T (p.Trp3360Cys) rs1574278301
NM_001164508.2(NEB):c.10087C>A (p.Leu3363Met) rs2098550303
NM_001164508.2(NEB):c.10143+5G>C rs1158552388
NM_001164508.2(NEB):c.10144-10_10144-9delinsG rs1553928417
NM_001164508.2(NEB):c.10144-17GT[3]
NM_001164508.2(NEB):c.10144-7_10144-5del rs2154058615
NM_001164508.2(NEB):c.10154A>T (p.Lys3385Ile)
NM_001164508.2(NEB):c.1016C>T (p.Ala339Val)
NM_001164508.2(NEB):c.10211T>G (p.Val3404Gly) rs2154058359
NM_001164508.2(NEB):c.10213G>T (p.Val3405Phe) rs1553927988
NM_001164508.2(NEB):c.10217A>G (p.Lys3406Arg) rs1574259964
NM_001164508.2(NEB):c.10228G>A (p.Ala3410Thr) rs1298375132
NM_001164508.2(NEB):c.10231G>T (p.Ala3411Ser) rs727504034
NM_001164508.2(NEB):c.10259G>A (p.Arg3420His)
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn) rs1370385550
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val) rs768451216
NM_001164508.2(NEB):c.10316T>C (p.Leu3439Pro) rs2154058008
NM_001164508.2(NEB):c.10326C>G (p.Asn3442Lys)
NM_001164508.2(NEB):c.10347+3G>A rs1226603362
NM_001164508.2(NEB):c.10347G>A (p.Lys3449=) rs1051033510
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
NM_001164508.2(NEB):c.1035+15T>C
NM_001164508.2(NEB):c.1035+6A>G rs1577251081
NM_001164508.2(NEB):c.10358C>A (p.Thr3453Lys) rs781408732
NM_001164508.2(NEB):c.10369G>A (p.Asp3457Asn) rs1319060772
NM_001164508.2(NEB):c.10373A>C (p.Lys3458Thr)
NM_001164508.2(NEB):c.10381A>G (p.Thr3461Ala)
NM_001164508.2(NEB):c.10419G>T (p.Met3473Ile) rs368842783
NM_001164508.2(NEB):c.10423G>T (p.Ala3475Ser) rs2098506984
NM_001164508.2(NEB):c.10433A>G (p.Asn3478Ser) rs1246003078
NM_001164508.2(NEB):c.10447A>G (p.Ser3483Gly)
NM_001164508.2(NEB):c.10452+3A>G rs2154051876
NM_001164508.2(NEB):c.10453-17A>G
NM_001164508.2(NEB):c.10453A>T (p.Ser3485Cys) rs2154027931
NM_001164508.2(NEB):c.10519C>T (p.Pro3507Ser)
NM_001164508.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
NM_001164508.2(NEB):c.10560+4A>G
NM_001164508.2(NEB):c.10599C>A (p.His3533Gln)
NM_001164508.2(NEB):c.10603A>T (p.Ile3535Phe)
NM_001164508.2(NEB):c.10613G>T (p.Arg3538Leu)
NM_001164508.2(NEB):c.10624G>A (p.Asp3542Asn) rs777939660
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
NM_001164508.2(NEB):c.1063A>G (p.Asn355Asp)
NM_001164508.2(NEB):c.10654A>T (p.Ile3552Phe)
NM_001164508.2(NEB):c.10657G>T (p.Ala3553Ser) rs1372803594
NM_001164508.2(NEB):c.10660A>G (p.Lys3554Glu) rs1553912139
NM_001164508.2(NEB):c.10687A>G (p.Lys3563Glu)
NM_001164508.2(NEB):c.10706A>G (p.Lys3569Arg) rs371572709
NM_001164508.2(NEB):c.10709C>T (p.Thr3570Ile)
NM_001164508.2(NEB):c.1070G>A (p.Gly357Glu) rs1221725692
NM_001164508.2(NEB):c.10712G>A (p.Arg3571Lys) rs761487598
NM_001164508.2(NEB):c.10783G>A (p.Asp3595Asn)
NM_001164508.2(NEB):c.10792C>T (p.His3598Tyr)
NM_001164508.2(NEB):c.10807T>C (p.Trp3603Arg)
NM_001164508.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal) rs1573936944
NM_001164508.2(NEB):c.10817T>C (p.Leu3606Pro)
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr) rs2098331597
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn)
NM_001164508.2(NEB):c.10855T>C (p.Tyr3619His)
NM_001164508.2(NEB):c.10861C>G (p.Leu3621Val) rs1573934764
NM_001164508.2(NEB):c.10870G>A (p.Asp3624Asn)
NM_001164508.2(NEB):c.10872+4A>G
NM_001164508.2(NEB):c.10880A>G (p.Tyr3627Cys) rs573537251
NM_001164508.2(NEB):c.10884G>T (p.Lys3628Asn) rs2154017407
NM_001164508.2(NEB):c.10913G>C (p.Gly3638Ala)
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001164508.2(NEB):c.10957G>A (p.Ala3653Thr)
NM_001164508.2(NEB):c.10972A>G (p.Ser3658Gly) rs2154016610
NM_001164508.2(NEB):c.10982T>C (p.Ile3661Thr) rs886940194
NM_001164508.2(NEB):c.11022A>G (p.Ile3674Met)
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala) rs879255369
NM_001164508.2(NEB):c.11054A>G (p.Asn3685Ser)
NM_001164508.2(NEB):c.11077-18_11077-17insTCTCTC
NM_001164508.2(NEB):c.11077-20_11077-19insCTC rs1553905611
NM_001164508.2(NEB):c.11119C>T (p.His3707Tyr)
NM_001164508.2(NEB):c.11132A>T (p.Asp3711Val)
NM_001164508.2(NEB):c.11147T>C (p.Met3716Thr) rs2098235987
NM_001164508.2(NEB):c.11164C>G (p.Arg3722Gly)
NM_001164508.2(NEB):c.11173T>C (p.Tyr3725His)
NM_001164508.2(NEB):c.11177G>A (p.Ser3726Asn)
NM_001164508.2(NEB):c.11207A>T (p.Glu3736Val)
NM_001164508.2(NEB):c.1121A>G (p.Gln374Arg)
NM_001164508.2(NEB):c.11234G>A (p.Arg3745His)
NM_001164508.2(NEB):c.11239G>T (p.Asp3747Tyr)
NM_001164508.2(NEB):c.11248C>T (p.Pro3750Ser)
NM_001164508.2(NEB):c.11249C>A (p.Pro3750Gln) rs2098183275
NM_001164508.2(NEB):c.11253C>G (p.Ile3751Met)
NM_001164508.2(NEB):c.11288A>G (p.Asp3763Gly)
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu) rs374486286
NM_001164508.2(NEB):c.11324G>A (p.Gly3775Asp)
NM_001164508.2(NEB):c.11339C>A (p.Ala3780Asp)
NM_001164508.2(NEB):c.11342G>A (p.Arg3781Gln)
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
NM_001164508.2(NEB):c.11367G>T (p.Met3789Ile) rs1256861153
NM_001164508.2(NEB):c.11371T>C (p.Trp3791Arg) rs2098127092
NM_001164508.2(NEB):c.11403C>G (p.Asp3801Glu)
NM_001164508.2(NEB):c.11417A>G (p.Lys3806Arg) rs2098126289
NM_001164508.2(NEB):c.11440A>G (p.Lys3814Glu) rs1553897365
NM_001164508.2(NEB):c.11441A>G (p.Lys3814Arg)
NM_001164508.2(NEB):c.11450G>A (p.Ser3817Asn) rs776337697
NM_001164508.2(NEB):c.11459A>T (p.Asp3820Val) rs1008059245
NM_001164508.2(NEB):c.11461A>T (p.Met3821Leu) rs1057524782
NM_001164508.2(NEB):c.11467G>C (p.Gly3823Arg) rs1489953672
NM_001164508.2(NEB):c.11498T>C (p.Leu3833Pro) rs2098124760
NM_001164508.2(NEB):c.11515T>C (p.Tyr3839His)
NM_001164508.2(NEB):c.11516A>G (p.Tyr3839Cys)
NM_001164508.2(NEB):c.1152+6T>C
NM_001164508.2(NEB):c.1153-12T>G
NM_001164508.2(NEB):c.1153-18A>G
NM_001164508.2(NEB):c.11581G>A (p.Ala3861Thr)
NM_001164508.2(NEB):c.11585A>G (p.Tyr3862Cys)
NM_001164508.2(NEB):c.11612A>C (p.Lys3871Thr)
NM_001164508.2(NEB):c.11612A>T (p.Lys3871Ile)
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro) rs1131691534
NM_001164508.2(NEB):c.1162A>G (p.Lys388Glu) rs1159204491
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp) rs199766288
NM_001164508.2(NEB):c.11654T>A (p.Ile3885Asn) rs1367960856
NM_001164508.2(NEB):c.11668G>T (p.Val3890Phe)
NM_001164508.2(NEB):c.11686G>C (p.Ala3896Pro)
NM_001164508.2(NEB):c.11690G>A (p.Gly3897Glu) rs777129630
NM_001164508.2(NEB):c.1169A>G (p.Asn390Ser)
NM_001164508.2(NEB):c.11708G>A (p.Arg3903Lys) rs2098010006
NM_001164508.2(NEB):c.11730C>G (p.Asp3910Glu)
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly) rs2098007899
NM_001164508.2(NEB):c.11836A>G (p.Lys3946Glu)
NM_001164508.2(NEB):c.11873T>C (p.Ile3958Thr)
NM_001164508.2(NEB):c.11890A>G (p.Asn3964Asp)
NM_001164508.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
NM_001164508.2(NEB):c.11902A>G (p.Ile3968Val)
NM_001164508.2(NEB):c.11910+3A>G rs2097920067
NM_001164508.2(NEB):c.11911-12T>G rs2153974946
NM_001164508.2(NEB):c.11911-16A>G
NM_001164508.2(NEB):c.11911A>G (p.Lys3971Glu) rs762228870
NM_001164508.2(NEB):c.11932G>T (p.Asp3978Tyr) rs2097912400
NM_001164508.2(NEB):c.11949_11957dup (p.Tyr3985_Asp3986insGluAspTyr) rs753048510
NM_001164508.2(NEB):c.11977T>C (p.Ser3993Pro) rs2153974640
NM_001164508.2(NEB):c.11980A>G (p.Ile3994Val) rs751650751
NM_001164508.2(NEB):c.12010G>C (p.Ala4004Pro)
NM_001164508.2(NEB):c.12013A>T (p.Ser4005Cys)
NM_001164508.2(NEB):c.12018C>T (p.Asp4006=)
NM_001164508.2(NEB):c.12019-9G>A
NM_001164508.2(NEB):c.12020A>C (p.Tyr4007Ser) rs758528247
NM_001164508.2(NEB):c.12020A>G (p.Tyr4007Cys) rs758528247
NM_001164508.2(NEB):c.12041A>G (p.Glu4014Gly) rs2153972362
NM_001164508.2(NEB):c.1204T>G (p.Cys402Gly)
NM_001164508.2(NEB):c.12072G>T (p.Gln4024His)
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly) rs1188050770
NM_001164508.2(NEB):c.12082G>A (p.Asp4028Asn) rs2153972179
NM_001164508.2(NEB):c.1209G>T (p.Glu403Asp) rs1576715880
NM_001164508.2(NEB):c.12100T>A (p.Cys4034Ser) rs973939120
NM_001164508.2(NEB):c.12137A>G (p.Glu4046Gly)
NM_001164508.2(NEB):c.12151T>C (p.Phe4051Leu)
NM_001164508.2(NEB):c.12158A>C (p.Lys4053Thr)
NM_001164508.2(NEB):c.12185T>C (p.Val4062Ala)
NM_001164508.2(NEB):c.12206T>C (p.Leu4069Pro)
NM_001164508.2(NEB):c.12218G>A (p.Cys4073Tyr)
NM_001164508.2(NEB):c.12218G>C (p.Cys4073Ser) rs1316221324
NM_001164508.2(NEB):c.12221A>T (p.Gln4074Leu) rs1257852959
NM_001164508.2(NEB):c.12244T>C (p.Tyr4082His)
NM_001164508.2(NEB):c.12251A>G (p.Asn4084Ser) rs761668198
NM_001164508.2(NEB):c.12262G>C (p.Glu4088Gln)
NM_001164508.2(NEB):c.12274A>G (p.Met4092Val)
NM_001164508.2(NEB):c.12275T>G (p.Met4092Arg)
NM_001164508.2(NEB):c.12278C>G (p.Pro4093Arg) rs749270501
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys) rs755521679
NM_001164508.2(NEB):c.12297C>G (p.Ile4099Met) rs1442726188
NM_001164508.2(NEB):c.1229A>C (p.Asp410Ala) rs1576715183
NM_001164508.2(NEB):c.12304A>C (p.Lys4102Gln) rs2153971169
NM_001164508.2(NEB):c.12310G>A (p.Ala4104Thr)
NM_001164508.2(NEB):c.12311C>T (p.Ala4104Val)
NM_001164508.2(NEB):c.12312C>G (p.Ala4104=)
NM_001164508.2(NEB):c.12314A>G (p.Tyr4105Cys)
NM_001164508.2(NEB):c.1231A>T (p.Thr411Ser) rs2099605512
NM_001164508.2(NEB):c.12326G>C (p.Ser4109Thr)
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001164508.2(NEB):c.12370G>A (p.Gly4124Ser) rs1227592399
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001164508.2(NEB):c.12395A>G (p.Glu4132Gly) rs1553877904
NM_001164508.2(NEB):c.12406G>A (p.Val4136Met) rs1553877868
NM_001164508.2(NEB):c.12407T>G (p.Val4136Gly) rs1553877860
NM_001164508.2(NEB):c.12413T>G (p.Val4138Gly) rs1553877811
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001164508.2(NEB):c.12534+3A>C
NM_001164508.2(NEB):c.12534+3A>G rs2097772131
NM_001164508.2(NEB):c.12535-3C>T rs2153958050
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001164508.2(NEB):c.1257+3A>G
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001164508.2(NEB):c.12639+4A>G
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu) rs2099604411
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001164508.2(NEB):c.1273T>G (p.Ser425Ala) rs1270235018
NM_001164508.2(NEB):c.12747+5G>A rs1251007091
NM_001164508.2(NEB):c.127G>C (p.Glu43Gln) rs1578040162
NM_001164508.2(NEB):c.12800G>A (p.Arg4267His) rs1049044616
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001164508.2(NEB):c.128A>C (p.Glu43Ala) rs752660824
NM_001164508.2(NEB):c.12902A>T (p.His4301Leu) rs1553872062
NM_001164508.2(NEB):c.12911C>T (p.Pro4304Leu) rs1456001729
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001164508.2(NEB):c.1293G>A (p.Leu431=)
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
NM_001164508.2(NEB):c.129G>T (p.Glu43Asp) rs1290183134
NM_001164508.2(NEB):c.1303G>T (p.Val435Leu) rs763255052
NM_001164508.2(NEB):c.13052A>G (p.Gln4351Arg) rs1553871396
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001164508.2(NEB):c.13059+5G>A
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn) rs1466400136
NM_001164508.2(NEB):c.1315G>C (p.Glu439Gln)
NM_001164508.2(NEB):c.13263+4A>G rs2097566924
NM_001164508.2(NEB):c.13263+8C>T rs1553866957
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr) rs771832822
NM_001164508.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13369-14CT[2] rs1553865749
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001164508.2(NEB):c.13460G>T (p.Arg4487Met) rs1553865625
NM_001164508.2(NEB):c.13465A>C (p.Ile4489Leu) rs1553865611
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001164508.2(NEB):c.13475_13476delinsTT (p.Asp4492Val) rs1553865579
NM_001164508.2(NEB):c.13476+6A>C
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001164508.2(NEB):c.1366-17A>G
NM_001164508.2(NEB):c.1366-3T>C
NM_001164508.2(NEB):c.13670A>G (p.Lys4557Arg)
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001164508.2(NEB):c.13719_13721delinsTCG (p.His4574Arg) rs2153902861
NM_001164508.2(NEB):c.1372T>C (p.Tyr458His) rs2149353691
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr) rs1553862132
NM_001164508.2(NEB):c.13788+2dup rs2153902530
NM_001164508.2(NEB):c.1396A>G (p.Arg466Gly)
NM_001164508.2(NEB):c.1405G>T (p.Gly469Cys)
NM_001164508.2(NEB):c.1406G>C (p.Gly469Ala)
NM_001164508.2(NEB):c.1419G>T (p.Gln473His) rs761722604
NM_001164508.2(NEB):c.1444A>G (p.Ile482Val) rs945055152
NM_001164508.2(NEB):c.1461G>T (p.Gln487His)
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
NM_001164508.2(NEB):c.1471-3C>T
NM_001164508.2(NEB):c.1531C>G (p.Leu511Val)
NM_001164508.2(NEB):c.1535T>A (p.Leu512Gln) rs2099599001
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1]) rs757726895
NM_001164508.2(NEB):c.1545A>C (p.Gln515His)
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.155T>G (p.Leu52Arg)
NM_001164508.2(NEB):c.1569+3A>T rs1576671314
NM_001164508.2(NEB):c.1570-13C>T
NM_001164508.2(NEB):c.1580A>G (p.Lys527Arg) rs773132178
NM_001164508.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001164508.2(NEB):c.1624G>T (p.Asp542Tyr)
NM_001164508.2(NEB):c.1654A>G (p.Asn552Asp) rs2099590400
NM_001164508.2(NEB):c.16708C>T (p.Leu5570Phe)
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe) rs2153808846
NM_001164508.2(NEB):c.16736G>A (p.Arg5579His)
NM_001164508.2(NEB):c.1674+3A>C rs2099590253
NM_001164508.2(NEB):c.16765C>T (p.Pro5589Ser) rs1490534583
NM_001164508.2(NEB):c.16780G>A (p.Val5594Ile)
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr) rs749713442
NM_001164508.2(NEB):c.16789G>T (p.Ala5597Ser) rs749713442
NM_001164508.2(NEB):c.16792C>A (p.Gln5598Lys)
NM_001164508.2(NEB):c.16837C>G (p.Leu5613Val)
NM_001164508.2(NEB):c.1684A>G (p.Lys562Glu)
NM_001164508.2(NEB):c.16908+3_16908+6del
NM_001164508.2(NEB):c.16932C>A (p.Asp5644Glu)
NM_001164508.2(NEB):c.16949T>C (p.Ile5650Thr) rs202009284
NM_001164508.2(NEB):c.1696G>A (p.Glu566Lys)
NM_001164508.2(NEB):c.16991C>A (p.Ala5664Glu)
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr) rs2153806253
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met) rs1360278350
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser) rs1390168520
NM_001164508.2(NEB):c.17018T>G (p.Leu5673Arg) rs2096589517
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly) rs547231033
NM_001164508.2(NEB):c.17038G>A (p.Glu5680Lys)
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
NM_001164508.2(NEB):c.17054G>C (p.Cys5685Ser)
NM_001164508.2(NEB):c.17063G>T (p.Arg5688Leu)
NM_001164508.2(NEB):c.17069A>G (p.Asp5690Gly)
NM_001164508.2(NEB):c.17078C>T (p.Pro5693Leu) rs2096588016
NM_001164508.2(NEB):c.17118+15_17118+16del
NM_001164508.2(NEB):c.17118C>A (p.Asp5706Glu) rs769476760
NM_001164508.2(NEB):c.17119-21_17119-5del rs2153759284
NM_001164508.2(NEB):c.17173A>C (p.Thr5725Pro) rs2096580140
NM_001164508.2(NEB):c.17183A>G (p.Asp5728Gly) rs756098317
NM_001164508.2(NEB):c.17188A>G (p.Asn5730Asp)
NM_001164508.2(NEB):c.17189A>G (p.Asn5730Ser)
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu) rs371681892
NM_001164508.2(NEB):c.17228A>G (p.Asn5743Ser) rs1022255644
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln) rs773556106
NM_001164508.2(NEB):c.1724T>C (p.Ile575Thr)
NM_001164508.2(NEB):c.17251T>G (p.Trp5751Gly) rs2096578090
NM_001164508.2(NEB):c.17258A>G (p.Lys5753Arg) rs2153754800
NM_001164508.2(NEB):c.17277G>C (p.Gln5759His)
NM_001164508.2(NEB):c.17281C>G (p.Pro5761Ala) rs2153753928
NM_001164508.2(NEB):c.17297C>T (p.Ser5766Phe) rs745836611
NM_001164508.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001164508.2(NEB):c.17333G>A (p.Ser5778Asn) rs2153752911
NM_001164508.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001164508.2(NEB):c.17341G>T (p.Asp5781Tyr)
NM_001164508.2(NEB):c.17348G>A (p.Arg5783His)
NM_001164508.2(NEB):c.17367G>C (p.Trp5789Cys)
NM_001164508.2(NEB):c.17373C>T (p.Cys5791=)
NM_001164508.2(NEB):c.17377C>T (p.Pro5793Ser)
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr) rs1262861131
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del) rs1553787578
NM_001164508.2(NEB):c.17408A>C (p.Lys5803Thr)
NM_001164508.2(NEB):c.1741C>T (p.Pro581Ser)
NM_001164508.2(NEB):c.17452G>C (p.Glu5818Gln) rs1193153766
NM_001164508.2(NEB):c.17468T>C (p.Ile5823Thr) rs768866431
NM_001164508.2(NEB):c.17479C>T (p.Pro5827Ser) rs1560050173
NM_001164508.2(NEB):c.17498T>C (p.Val5833Ala)
NM_001164508.2(NEB):c.1750G>T (p.Ala584Ser)
NM_001164508.2(NEB):c.17535+3A>G rs1553784210
NM_001164508.2(NEB):c.17536-3T>C
NM_001164508.2(NEB):c.17543A>G (p.Tyr5848Cys) rs1577949283
NM_001164508.2(NEB):c.17546G>T (p.Arg5849Leu)
NM_001164508.2(NEB):c.1754C>T (p.Ala585Val) rs2099581852
NM_001164508.2(NEB):c.1756A>G (p.Lys586Glu) rs1576598655
NM_001164508.2(NEB):c.175C>G (p.Gln59Glu) rs867732907
NM_001164508.2(NEB):c.17608A>C (p.Lys5870Gln)
NM_001164508.2(NEB):c.17627T>C (p.Leu5876Pro) rs1181510782
NM_001164508.2(NEB):c.17629G>T (p.Asp5877Tyr)
NM_001164508.2(NEB):c.17635-16_17635-14del rs2153745540
NM_001164508.2(NEB):c.17635-17C>G
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser) rs2099581808
NM_001164508.2(NEB):c.17647A>C (p.Lys5883Gln)
NM_001164508.2(NEB):c.17648A>G (p.Lys5883Arg)
NM_001164508.2(NEB):c.17678C>A (p.Thr5893Asn)
NM_001164508.2(NEB):c.17681T>A (p.Leu5894His) rs201072996
NM_001164508.2(NEB):c.17681T>G (p.Leu5894Arg)
NM_001164508.2(NEB):c.17690C>G (p.Thr5897Ser)
NM_001164508.2(NEB):c.17705C>T (p.Thr5902Ile)
NM_001164508.2(NEB):c.17708C>T (p.Ala5903Val) rs2153745118
NM_001164508.2(NEB):c.17724G>C (p.Arg5908Ser)
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
NM_001164508.2(NEB):c.1778G>A (p.Ser593Asn) rs2099581746
NM_001164508.2(NEB):c.177G>C (p.Gln59His) rs200990309
NM_001164508.2(NEB):c.1780G>A (p.Asp594Asn)
NM_001164508.2(NEB):c.1781A>T (p.Asp594Val)
NM_001164508.2(NEB):c.1782+4_1782+5del rs398124168
NM_001164508.2(NEB):c.1782+5G>A
NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)
NM_001164508.2(NEB):c.17845-11C>A
NM_001164508.2(NEB):c.17845-3C>G rs2153740439
NM_001164508.2(NEB):c.17848A>G (p.Lys5950Glu)
NM_001164508.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
NM_001164508.2(NEB):c.17872C>A (p.Gln5958Lys)
NM_001164508.2(NEB):c.17896C>G (p.Pro5966Ala) rs2096453351
NM_001164508.2(NEB):c.17903T>A (p.Met5968Lys)
NM_001164508.2(NEB):c.17914C>T (p.Pro5972Ser)
NM_001164508.2(NEB):c.17915C>A (p.Pro5972His) rs4327235
NM_001164508.2(NEB):c.17915C>T (p.Pro5972Leu) rs4327235
NM_001164508.2(NEB):c.17939C>A (p.Ala5980Glu) rs143582290
NM_001164508.2(NEB):c.17942G>T (p.Gly5981Val)
NM_001164508.2(NEB):c.17948T>G (p.Ile5983Ser)
NM_001164508.2(NEB):c.17965T>A (p.Tyr5989Asn) rs752113075
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp) rs764985237
NM_001164508.2(NEB):c.17999T>A (p.Ile6000Asn)
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg) rs2096449520
NM_001164508.2(NEB):c.1800C>A (p.Asp600Glu)
NM_001164508.2(NEB):c.18037A>C (p.Lys6013Gln) rs2096448727
NM_001164508.2(NEB):c.18070T>G (p.Tyr6024Asp)
NM_001164508.2(NEB):c.18080A>G (p.Tyr6027Cys)
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile) rs764679933
NM_001164508.2(NEB):c.18106G>C (p.Asp6036His)
NM_001164508.2(NEB):c.18110A>G (p.Gln6037Arg)
NM_001164508.2(NEB):c.18122T>C (p.Ile6041Thr) rs2096445948
NM_001164508.2(NEB):c.18127G>A (p.Ala6043Thr) rs1553775860
NM_001164508.2(NEB):c.1812C>A (p.Asn604Lys) rs772151546
NM_001164508.2(NEB):c.18136G>C (p.Ala6046Pro) rs2096445433
NM_001164508.2(NEB):c.18149A>C (p.Gln6050Pro)
NM_001164508.2(NEB):c.18149A>G (p.Gln6050Arg)
NM_001164508.2(NEB):c.18152G>A (p.Ser6051Asn) rs1577885822
NM_001164508.2(NEB):c.18160G>A (p.Val6054Ile) rs975134897
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
NM_001164508.2(NEB):c.18194T>C (p.Ile6065Thr)
NM_001164508.2(NEB):c.1824G>A (p.Met608Ile)
NM_001164508.2(NEB):c.18261+19_18261+21del rs1319324645
NM_001164508.2(NEB):c.18261+4C>G rs757739475
NM_001164508.2(NEB):c.18261+4C>T
NM_001164508.2(NEB):c.18261+5G>A rs375167899
NM_001164508.2(NEB):c.18262-3C>T
NM_001164508.2(NEB):c.182C>G (p.Ala61Gly) rs2099795617
NM_001164508.2(NEB):c.18302T>C (p.Phe6101Ser) rs2153729845
NM_001164508.2(NEB):c.18310G>C (p.Val6104Leu) rs1253544291
NM_001164508.2(NEB):c.18310G>T (p.Val6104Leu)
NM_001164508.2(NEB):c.18314T>C (p.Val6105Ala) rs2096324310
NM_001164508.2(NEB):c.18327G>T (p.Glu6109Asp) rs2096323303
NM_001164508.2(NEB):c.18374A>G (p.Tyr6125Cys) rs2096294914
NM_001164508.2(NEB):c.18406T>C (p.Tyr6136His)
NM_001164508.2(NEB):c.18407A>G (p.Tyr6136Cys)
NM_001164508.2(NEB):c.18422A>T (p.Asp6141Val)
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys) rs377179553
NM_001164508.2(NEB):c.18436T>C (p.Ser6146Pro) rs1231291915
NM_001164508.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001164508.2(NEB):c.1849G>A (p.Asp617Asn)
NM_001164508.2(NEB):c.18515A>G (p.Tyr6172Cys)
NM_001164508.2(NEB):c.18517A>C (p.Thr6173Pro)
NM_001164508.2(NEB):c.18523G>A (p.Asp6175Asn)
NM_001164508.2(NEB):c.18538C>T (p.Pro6180Ser)
NM_001164508.2(NEB):c.18541A>T (p.Ile6181Phe)
NM_001164508.2(NEB):c.18559G>A (p.Ala6187Thr) rs994460843
NM_001164508.2(NEB):c.18572A>G (p.Asn6191Ser) rs2096236392
NM_001164508.2(NEB):c.18575G>C (p.Ser6192Thr)
NM_001164508.2(NEB):c.18580-19T>C
NM_001164508.2(NEB):c.18596C>T (p.Thr6199Ile) rs1331648772
NM_001164508.2(NEB):c.18603G>C (p.Glu6201Asp)
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly) rs753261774
NM_001164508.2(NEB):c.18683T>A (p.Met6228Lys)
NM_001164508.2(NEB):c.18693+5G>C rs377482159
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.18701A>G (p.Tyr6234Cys)
NM_001164508.2(NEB):c.18724A>G (p.Lys6242Glu) rs886054937
NM_001164508.2(NEB):c.1874A>C (p.Lys625Thr)
NM_001164508.2(NEB):c.18751A>G (p.Met6251Val)
NM_001164508.2(NEB):c.18763G>T (p.Val6255Leu) rs781706876
NM_001164508.2(NEB):c.18787A>G (p.Ile6263Val)
NM_001164508.2(NEB):c.18804G>C (p.Glu6268Asp)
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His) rs921387109
NM_001164508.2(NEB):c.18823C>A (p.Gln6275Lys)
NM_001164508.2(NEB):c.1883A>C (p.Lys628Thr) rs1176664285
NM_001164508.2(NEB):c.1883A>G (p.Lys628Arg) rs1176664285
NM_001164508.2(NEB):c.18847C>T (p.Pro6283Ser)
NM_001164508.2(NEB):c.18862G>T (p.Val6288Phe)
NM_001164508.2(NEB):c.18872C>T (p.Ala6291Val)
NM_001164508.2(NEB):c.18892-15CT[2]
NM_001164508.2(NEB):c.18893A>G (p.Asn6298Ser) rs781054657
NM_001164508.2(NEB):c.18893A>T (p.Asn6298Ile)
NM_001164508.2(NEB):c.18908A>C (p.Asp6303Ala)
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001164508.2(NEB):c.18940G>A (p.Val6314Ile) rs764044045
NM_001164508.2(NEB):c.1896+4_1896+5del
NM_001164508.2(NEB):c.18962T>A (p.Leu6321His)
NM_001164508.2(NEB):c.19001A>T (p.Gln6334Leu)
NM_001164508.2(NEB):c.19016G>A (p.Gly6339Asp)
NM_001164508.2(NEB):c.19030C>A (p.Gln6344Lys)
NM_001164508.2(NEB):c.19064A>G (p.Tyr6355Cys) rs968608271
NM_001164508.2(NEB):c.19075G>C (p.Val6359Leu)
NM_001164508.2(NEB):c.19092T>A (p.Asn6364Lys) rs2096022022
NM_001164508.2(NEB):c.19097G>A (p.Ser6366Asn) rs191579691
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.19102G>A (p.Val6368Ile)
NM_001164508.2(NEB):c.19144A>G (p.Thr6382Ala)
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001164508.2(NEB):c.19206+17T>C
NM_001164508.2(NEB):c.19207-20_19207-18del rs768751352
NM_001164508.2(NEB):c.19211T>C (p.Leu6404Pro)
NM_001164508.2(NEB):c.19223C>T (p.Ala6408Val)
NM_001164508.2(NEB):c.19234G>T (p.Val6412Leu) rs2095980616
NM_001164508.2(NEB):c.1925C>A (p.Thr642Lys)
NM_001164508.2(NEB):c.19284C>G (p.His6428Gln) rs201005449
NM_001164508.2(NEB):c.19286C>T (p.Ala6429Val)
NM_001164508.2(NEB):c.19301A>C (p.His6434Pro) rs1577553776
NM_001164508.2(NEB):c.19315-3T>C rs756491764
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly) rs2153666324
NM_001164508.2(NEB):c.19357A>G (p.Thr6453Ala) rs968182845
NM_001164508.2(NEB):c.19382_19383delinsTG (p.Asp6461Val)
NM_001164508.2(NEB):c.19400G>C (p.Cys6467Ser) rs1577306997
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro) rs556624010
NM_001164508.2(NEB):c.19429C>A (p.Arg6477Ser)
NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys) rs765181095
NM_001164508.2(NEB):c.1948T>C (p.Cys650Arg)
NM_001164508.2(NEB):c.19495A>G (p.Met6499Val) rs2095482134
NM_001164508.2(NEB):c.19499T>G (p.Val6500Gly)
NM_001164508.2(NEB):c.1949G>A (p.Cys650Tyr)
NM_001164508.2(NEB):c.19529G>A (p.Ser6510Asn)
NM_001164508.2(NEB):c.1952A>T (p.Glu651Val) rs1553592436
NM_001164508.2(NEB):c.19534A>G (p.Ile6512Val) rs2095480638
NM_001164508.2(NEB):c.19583A>C (p.Gln6528Pro) rs2153660026
NM_001164508.2(NEB):c.19583A>G (p.Gln6528Arg)
NM_001164508.2(NEB):c.19603A>G (p.Lys6535Glu) rs898837153
NM_001164508.2(NEB):c.19624_19625insGTA (p.Asp6542delinsGlyAsn) rs2153659819
NM_001164508.2(NEB):c.19626+13C>T
NM_001164508.2(NEB):c.19724G>T (p.Arg6575Leu) rs185999504
NM_001164508.2(NEB):c.19728T>A (p.Asp6576Glu)
NM_001164508.2(NEB):c.19729G>A (p.Asp6577Asn) rs2095448833
NM_001164508.2(NEB):c.19736A>G (p.Lys6579Arg)
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr) rs190605644
NM_001164508.2(NEB):c.19756A>G (p.Lys6586Glu) rs2153653983
NM_001164508.2(NEB):c.19763G>A (p.Arg6588Lys)
NM_001164508.2(NEB):c.19799A>T (p.Tyr6600Phe) rs2095412773
NM_001164508.2(NEB):c.19814A>G (p.Lys6605Arg) rs2095412206
NM_001164508.2(NEB):c.19826A>T (p.Gln6609Leu) rs1553730155
NM_001164508.2(NEB):c.19836+6T>C rs2153653644
NM_001164508.2(NEB):c.19868T>G (p.Val6623Gly)
NM_001164508.2(NEB):c.19915G>A (p.Ala6639Thr) rs2095356884
NM_001164508.2(NEB):c.19916C>A (p.Ala6639Asp) rs2153647567
NM_001164508.2(NEB):c.19918C>T (p.Leu6640Phe) rs2095356788
NM_001164508.2(NEB):c.19919T>C (p.Leu6640Pro)
NM_001164508.2(NEB):c.19923T>G (p.His6641Gln) rs773870323
NM_001164508.2(NEB):c.19934T>G (p.Leu6645Arg)
NM_001164508.2(NEB):c.19944+6_19944+12del rs2153647219
NM_001164508.2(NEB):c.19945-3C>G rs1206840358
NM_001164508.2(NEB):c.19976C>G (p.Pro6659Arg) rs2153633083
NM_001164508.2(NEB):c.20003C>G (p.Thr6668Ser) rs2153632972
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro) rs763237724
NM_001164508.2(NEB):c.20021_20023del (p.Ile6674del) rs1577105410
NM_001164508.2(NEB):c.20038A>G (p.Met6680Val) rs1265237421
NM_001164508.2(NEB):c.20044A>G (p.Ser6682Gly)
NM_001164508.2(NEB):c.20050-3C>T
NM_001164508.2(NEB):c.20056T>C (p.Tyr6686His) rs2153624429
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
NM_001164508.2(NEB):c.20108A>G (p.Lys6703Arg)
NM_001164508.2(NEB):c.2011G>C (p.Asp671His)
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
NM_001164508.2(NEB):c.20165A>T (p.Tyr6722Phe) rs2153618365
NM_001164508.2(NEB):c.2017T>C (p.Tyr673His)
NM_001164508.2(NEB):c.20191G>T (p.Asp6731Tyr)
NM_001164508.2(NEB):c.20195A>G (p.Lys6732Arg)
NM_001164508.2(NEB):c.20216C>T (p.Thr6739Ile)
NM_001164508.2(NEB):c.20220T>A (p.Pro6740=)
NM_001164508.2(NEB):c.20241G>T (p.Lys6747Asn) rs2153617719
NM_001164508.2(NEB):c.20302A>G (p.Met6768Val) rs780579848
NM_001164508.2(NEB):c.20308T>C (p.Ser6770Pro)
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001164508.2(NEB):c.20323C>T (p.Pro6775Ser)
NM_001164508.2(NEB):c.20327A>G (p.Gln6776Arg) rs1377556613
NM_001164508.2(NEB):c.20351G>C (p.Gly6784Ala)
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala) rs1028441065
NM_001164508.2(NEB):c.20367+13T>G
NM_001164508.2(NEB):c.20367+3A>G
NM_001164508.2(NEB):c.20368-17C>T
NM_001164508.2(NEB):c.20369T>A (p.Ile6790Asn)
NM_001164508.2(NEB):c.20384A>G (p.Asp6795Gly)
NM_001164508.2(NEB):c.20385C>G (p.Asp6795Glu) rs2153608107
NM_001164508.2(NEB):c.2038C>A (p.His680Asn) rs773702715
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
NM_001164508.2(NEB):c.20407G>A (p.Gly6803Ser)
NM_001164508.2(NEB):c.20437G>T (p.Val6813Phe)
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
NM_001164508.2(NEB):c.20465G>C (p.Trp6822Ser) rs2153607705
NM_001164508.2(NEB):c.20466+5G>C rs2094687409
NM_001164508.2(NEB):c.20467-20_20467-19insG
NM_001164508.2(NEB):c.20467-3A>G rs1463738651
NM_001164508.2(NEB):c.2056G>A (p.Glu686Lys)
NM_001164508.2(NEB):c.20578-18A>G
NM_001164508.2(NEB):c.20578-20A>G rs2153575431
NM_001164508.2(NEB):c.20591C>T (p.Ala6864Val)
NM_001164508.2(NEB):c.20606A>T (p.Gln6869Leu)
NM_001164508.2(NEB):c.20653G>T (p.Ala6885Ser) rs1201503713
NM_001164508.2(NEB):c.20670G>C (p.Lys6890Asn) rs768041857
NM_001164508.2(NEB):c.20692G>A (p.Val6898Ile)
NM_001164508.2(NEB):c.20719C>T (p.His6907Tyr)
NM_001164508.2(NEB):c.20721T>A (p.His6907Gln) rs2093933909
NM_001164508.2(NEB):c.20728G>T (p.Ala6910Ser)
NM_001164508.2(NEB):c.20752A>C (p.Lys6918Gln)
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr) rs2093931355
NM_001164508.2(NEB):c.20765A>T (p.Asp6922Val) rs2093930817
NM_001164508.2(NEB):c.20776A>G (p.Met6926Val) rs1559707924
NM_001164508.2(NEB):c.2080A>C (p.Met694Leu)
NM_001164508.2(NEB):c.20822A>G (p.Asp6941Gly)
NM_001164508.2(NEB):c.20827T>C (p.Tyr6943His)
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val) rs1168345348
NM_001164508.2(NEB):c.20863G>A (p.Ala6955Thr) rs2153567154
NM_001164508.2(NEB):c.20892T>A (p.Asp6964Glu) rs1553694845
NM_001164508.2(NEB):c.20892T>G (p.Asp6964Glu) rs1553694845
NM_001164508.2(NEB):c.20894T>A (p.Leu6965Gln) rs1239615497
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001164508.2(NEB):c.20928G>T (p.Gly6976=)
NM_001164508.2(NEB):c.20933A>G (p.Tyr6978Cys) rs761780939
NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr) rs1383294380
NM_001164508.2(NEB):c.20974A>G (p.Lys6992Glu)
NM_001164508.2(NEB):c.2098A>G (p.Asn700Asp)
NM_001164508.2(NEB):c.21021G>A (p.Met7007Ile)
NM_001164508.2(NEB):c.21037T>G (p.Trp7013Gly) rs2153551039
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
NM_001164508.2(NEB):c.2107A>G (p.Lys703Glu)
NM_001164508.2(NEB):c.21094G>C (p.Val7032Leu)
NM_001164508.2(NEB):c.21097A>C (p.Ser7033Arg)
NM_001164508.2(NEB):c.21102+5G>A
NM_001164508.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001164508.2(NEB):c.21115G>C (p.Glu7039Gln)
NM_001164508.2(NEB):c.2111G>A (p.Ser704Asn)
NM_001164508.2(NEB):c.21194C>T (p.Thr7065Ile)
NM_001164508.2(NEB):c.21197T>C (p.Leu7066Pro)
NM_001164508.2(NEB):c.21207+4T>C
NM_001164508.2(NEB):c.21207+6T>C
NM_001164508.2(NEB):c.21212A>C (p.Lys7071Thr)
NM_001164508.2(NEB):c.21212A>G (p.Lys7071Arg) rs2093050726
NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys) rs1553587676
NM_001164508.2(NEB):c.21245A>G (p.Asp7082Gly)
NM_001164508.2(NEB):c.21246T>G (p.Asp7082Glu) rs2153534764
NM_001164508.2(NEB):c.21287A>G (p.Lys7096Arg)
NM_001164508.2(NEB):c.2128G>A (p.Glu710Lys)
NM_001164508.2(NEB):c.21296C>G (p.Thr7099Ser)
NM_001164508.2(NEB):c.21329G>A (p.Ser7110Asn)
NM_001164508.2(NEB):c.21344T>C (p.Leu7115Pro) rs1003798007
NM_001164508.2(NEB):c.21348A>T (p.Gln7116His)
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu) rs1359338282
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro) rs2092301005
NM_001164508.2(NEB):c.21403C>T (p.His7135Tyr)
NM_001164508.2(NEB):c.21411G>C (p.Trp7137Cys) rs1343837039
NM_001164508.2(NEB):c.21417+3A>T
NM_001164508.2(NEB):c.2141G>A (p.Gly714Glu)
NM_001164508.2(NEB):c.21420C>G (p.Ile7140Met)
NM_001164508.2(NEB):c.21424T>C (p.Tyr7142His)
NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)
NM_001164508.2(NEB):c.21454A>G (p.Lys7152Glu) rs2153501624
NM_001164508.2(NEB):c.21457T>G (p.Phe7153Val) rs2153501601
NM_001164508.2(NEB):c.21469G>T (p.Val7157Leu) rs1576490497
NM_001164508.2(NEB):c.21484C>T (p.His7162Tyr)
NM_001164508.2(NEB):c.21490C>A (p.Arg7164Ser) rs771050596
NM_001164508.2(NEB):c.21491G>C (p.Arg7164Pro) rs16830171
NM_001164508.2(NEB):c.214A>G (p.Ile72Val) rs1553698165
NM_001164508.2(NEB):c.21519C>A (p.Ser7173Arg)
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn) rs1227689355
NM_001164508.2(NEB):c.21529T>C (p.Tyr7177His)
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
NM_001164508.2(NEB):c.21546C>A (p.Asn7182Lys) rs149510427
NM_001164508.2(NEB):c.21560G>C (p.Arg7187Thr)
NM_001164508.2(NEB):c.21563G>A (p.Gly7188Asp)
NM_001164508.2(NEB):c.21572C>G (p.Thr7191Arg)
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
NM_001164508.2(NEB):c.21599A>G (p.His7200Arg)
NM_001164508.2(NEB):c.21606C>T (p.Arg7202=) rs2153489433
NM_001164508.2(NEB):c.21609G>C (p.Lys7203Asn) rs2090430591
NM_001164508.2(NEB):c.21631-17del
NM_001164508.2(NEB):c.21631-7C>G
NM_001164508.2(NEB):c.21641AAG[1] (p.Glu7215del)
NM_001164508.2(NEB):c.21646G>A (p.Val7216Ile) rs2153475893
NM_001164508.2(NEB):c.2164A>G (p.Ile722Val)
NM_001164508.2(NEB):c.21668A>C (p.Asn7223Thr)
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
NM_001164508.2(NEB):c.21743A>G (p.Tyr7248Cys) rs2153463102
NM_001164508.2(NEB):c.21773A>G (p.His7258Arg)
NM_001164508.2(NEB):c.21794G>A (p.Arg7265Gln)
NM_001164508.2(NEB):c.21826C>A (p.Leu7276Met)
NM_001164508.2(NEB):c.2182G>A (p.Ala728Thr) rs1187124982
NM_001164508.2(NEB):c.21862G>A (p.Glu7288Lys) rs768693028
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
NM_001164508.2(NEB):c.21874G>C (p.Gly7292Arg)
NM_001164508.2(NEB):c.21879C>T (p.Cys7293=)
NM_001164508.2(NEB):c.21908C>G (p.Thr7303Arg) rs374819736
NM_001164508.2(NEB):c.21910G>A (p.Val7304Met)
NM_001164508.2(NEB):c.21919C>A (p.Leu7307Ile)
NM_001164508.2(NEB):c.21945T>C (p.Asp7315=)
NM_001164508.2(NEB):c.21980G>C (p.Gly7327Ala) rs751167749
NM_001164508.2(NEB):c.21982A>G (p.Thr7328Ala)
NM_001164508.2(NEB):c.21983C>A (p.Thr7328Asn)
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu) rs1559547106
NM_001164508.2(NEB):c.22025A>G (p.Lys7342Arg)
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met) rs200918570
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg) rs2085588572
NM_001164508.2(NEB):c.2211+4A>C rs2099553895
NM_001164508.2(NEB):c.2211T>C (p.Asp737=) rs765620977
NM_001164508.2(NEB):c.2212-12C>G
NM_001164508.2(NEB):c.2212-9_2212-7del rs2099542943
NM_001164508.2(NEB):c.22124C>T (p.Thr7375Ile) rs1195608964
NM_001164508.2(NEB):c.22161+17_22161+18delinsTC rs2153451799
NM_001164508.2(NEB):c.2216C>A (p.Thr739Asn) rs2099542868
NM_001164508.2(NEB):c.22173A>T (p.Lys7391Asn) rs2085025144
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser) rs2153447855
NM_001164508.2(NEB):c.22213A>G (p.Ile7405Val) rs2153447751
NM_001164508.2(NEB):c.22228C>T (p.Pro7410Ser)
NM_001164508.2(NEB):c.22233G>C (p.Glu7411Asp) rs1576243073
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
NM_001164508.2(NEB):c.22264C>G (p.Gln7422Glu) rs369642754
NM_001164508.2(NEB):c.22272+17A>G
NM_001164508.2(NEB):c.22273G>T (p.Val7425Phe) rs752028559
NM_001164508.2(NEB):c.22301A>C (p.Asn7434Thr)
NM_001164508.2(NEB):c.2230C>T (p.Pro744Ser)
NM_001164508.2(NEB):c.22313C>T (p.Thr7438Ile) rs2153439522
NM_001164508.2(NEB):c.22328G>A (p.Arg7443Gln)
NM_001164508.2(NEB):c.22328G>C (p.Arg7443Pro) rs2084210932
NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)
NM_001164508.2(NEB):c.22342A>G (p.Lys7448Glu)
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly) rs1436329266
NM_001164508.2(NEB):c.22351C>G (p.Gln7451Glu) rs2084197089
NM_001164508.2(NEB):c.22367C>T (p.Ala7456Val) rs2153439115
NM_001164508.2(NEB):c.22374+9del
NM_001164508.2(NEB):c.2240C>A (p.Thr747Asn)
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
NM_001164508.2(NEB):c.2243A>G (p.Lys748Arg)
NM_001164508.2(NEB):c.22447A>T (p.Met7483Leu)
NM_001164508.2(NEB):c.22456_22457delinsGC (p.Lys7486Ala)
NM_001164508.2(NEB):c.22466A>G (p.Lys7489Arg) rs2084038575
NM_001164508.2(NEB):c.22479+4A>C
NM_001164508.2(NEB):c.22500C>A (p.Phe7500Leu)
NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)
NM_001164508.2(NEB):c.22523C>T (p.Pro7508Leu) rs780741468
NM_001164508.2(NEB):c.22531A>G (p.Asn7511Asp) rs2153396290
NM_001164508.2(NEB):c.22532A>C (p.Asn7511Thr)
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg) rs376609115
NM_001164508.2(NEB):c.22555A>G (p.Lys7519Glu) rs2080605863
NM_001164508.2(NEB):c.22567G>C (p.Asp7523His) rs2153395893
NM_001164508.2(NEB):c.22591-17del
NM_001164508.2(NEB):c.22591-3C>T rs778824203
NM_001164508.2(NEB):c.22619T>C (p.Leu7540Pro)
NM_001164508.2(NEB):c.2263T>C (p.Ser755Pro)
NM_001164508.2(NEB):c.22676C>T (p.Thr7559Ile) rs2080067943
NM_001164508.2(NEB):c.22690A>G (p.Ser7564Gly) rs749222946
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del) rs760161843
NM_001164508.2(NEB):c.22747C>T (p.Pro7583Ser) rs2153380639
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.22754A>C (p.Asn7585Thr)
NM_001164508.2(NEB):c.22771C>A (p.Leu7591Ile)
NM_001164508.2(NEB):c.22841C>T (p.Pro7614Leu) rs1182955893
NM_001164508.2(NEB):c.22912T>C (p.Tyr7638His)
NM_001164508.2(NEB):c.22950C>G (p.Asn7650Lys) rs2153320948
NM_001164508.2(NEB):c.22991A>C (p.Lys7664Thr)
NM_001164508.2(NEB):c.23005A>C (p.Ile7669Leu)
NM_001164508.2(NEB):c.23016+3A>G rs1194138148
NM_001164508.2(NEB):c.23016+4G>A
NM_001164508.2(NEB):c.23028G>C (p.Arg7676Ser)
NM_001164508.2(NEB):c.23083C>T (p.Pro7695Ser)
NM_001164508.2(NEB):c.230A>G (p.Asp77Gly)
NM_001164508.2(NEB):c.23102A>G (p.Lys7701Arg)
NM_001164508.2(NEB):c.23168G>A (p.Arg7723Lys) rs947053462
NM_001164508.2(NEB):c.23182A>G (p.Met7728Val)
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val) rs1284612506
NM_001164508.2(NEB):c.23197_23205del (p.Pro7733_Phe7735del)
NM_001164508.2(NEB):c.23225C>G (p.Thr7742Ser)
NM_001164508.2(NEB):c.23230A>G (p.Ile7744Val) rs2075994673
NM_001164508.2(NEB):c.23233G>T (p.Ala7745Ser) rs1179461829
NM_001164508.2(NEB):c.23242A>G (p.Ile7748Val) rs767590150
NM_001164508.2(NEB):c.23288C>T (p.Ser7763Phe)
NM_001164508.2(NEB):c.23314C>T (p.His7772Tyr) rs2075487458
NM_001164508.2(NEB):c.23316T>A (p.His7772Gln)
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del) rs1553614214
NM_001164508.2(NEB):c.23338T>A (p.Ser7780Thr) rs1553614160
NM_001164508.2(NEB):c.23341A>G (p.Ser7781Gly) rs745794892
NM_001164508.2(NEB):c.23346+2dup rs2153272570
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu) rs2070773602
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn) rs780379101
NM_001164508.2(NEB):c.23405C>T (p.Thr7802Ile) rs780379101
NM_001164508.2(NEB):c.23480G>A (p.Ser7827Asn)
NM_001164508.2(NEB):c.2348A>G (p.Lys783Arg) rs2099519230
NM_001164508.2(NEB):c.23524C>A (p.Arg7842Ser) rs184516994
NM_001164508.2(NEB):c.2353C>A (p.His785Asn) rs2099519209
NM_001164508.2(NEB):c.23576T>A (p.Val7859Asp)
NM_001164508.2(NEB):c.23609A>T (p.Glu7870Val) rs1454960791
NM_001164508.2(NEB):c.23647T>C (p.Ser7883Pro)
NM_001164508.2(NEB):c.23648C>G (p.Ser7883Trp) rs202191938
NM_001164508.2(NEB):c.2368_2370dup (p.Ala790dup) rs2148990366
NM_001164508.2(NEB):c.23705T>C (p.Val7902Ala)
NM_001164508.2(NEB):c.23713G>A (p.Val7905Met)
NM_001164508.2(NEB):c.23731C>A (p.His7911Asn)
NM_001164508.2(NEB):c.23742G>A (p.Ser7914=)
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile) rs767404419
NM_001164508.2(NEB):c.23752A>G (p.Lys7918Glu) rs758478063
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup) rs778176240
NM_001164508.2(NEB):c.23765G>A (p.Gly7922Glu)
NM_001164508.2(NEB):c.23773A>G (p.Ile7925Val) rs1322894219
NM_001164508.2(NEB):c.23802G>C (p.Glu7934Asp)
NM_001164508.2(NEB):c.23827T>C (p.Phe7943Leu)
NM_001164508.2(NEB):c.23836-14C>T
NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg)
NM_001164508.2(NEB):c.23867T>C (p.Ile7956Thr) rs933996254
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp) rs975397268
NM_001164508.2(NEB):c.23889G>T (p.Glu7963Asp)
NM_001164508.2(NEB):c.2390G>T (p.Arg797Ile)
NM_001164508.2(NEB):c.23916G>C (p.Glu7972Asp)
NM_001164508.2(NEB):c.23926T>A (p.Ser7976Thr) rs2065743787
NM_001164508.2(NEB):c.23929-12_23929-11del
NM_001164508.2(NEB):c.23949G>C (p.Leu7983Phe) rs2153073370
NM_001164508.2(NEB):c.23955G>C (p.Lys7985Asn) rs1189932875
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala) rs2064473141
NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr) rs1064796521
NM_001164508.2(NEB):c.23992G>A (p.Val7998Ile)
NM_001164508.2(NEB):c.24022-10T>G
NM_001164508.2(NEB):c.24022-9_24022-8del
NM_001164508.2(NEB):c.24028T>C (p.Tyr8010His) rs555681348
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala) rs1323764871
NM_001164508.2(NEB):c.24071C>G (p.Pro8024Arg) rs2153021543
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly) rs2062685891
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser) rs946188918
NM_001164508.2(NEB):c.24107T>G (p.Phe8036Cys)
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu) rs1458048713
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.2415+6T>C rs760614044
NM_001164508.2(NEB):c.24158T>C (p.Ile8053Thr) rs2061739053
NM_001164508.2(NEB):c.24207+12_24207+16dup rs1559228786
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24208-7_24208-6insTAA
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup) rs781667543
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup) rs769252768
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24300+18G>C
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=) rs541126160
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup) rs1344099907
NM_001164508.2(NEB):c.2432A>T (p.Asp811Val) rs896028175
NM_001164508.2(NEB):c.24350C>G (p.Pro8117Arg)
NM_001164508.2(NEB):c.24393+14A>G
NM_001164508.2(NEB):c.24394G>C (p.Val8132Leu)
NM_001164508.2(NEB):c.24433G>A (p.Ala8145Thr)
NM_001164508.2(NEB):c.24451G>A (p.Glu8151Lys) rs1385464726
NM_001164508.2(NEB):c.24454C>G (p.Arg8152Gly) rs763364977
NM_001164508.2(NEB):c.24508G>A (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24508G>C (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24518C>T (p.Thr8173Ile)
NM_001164508.2(NEB):c.24536C>T (p.Pro8179Leu)
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr) rs2152874768
NM_001164508.2(NEB):c.24581T>A (p.Val8194Glu)
NM_001164508.2(NEB):c.24589A>G (p.Lys8197Glu)
NM_001164508.2(NEB):c.24608C>G (p.Ala8203Gly) rs2152863881
NM_001164508.2(NEB):c.24619C>A (p.Pro8207Thr)
NM_001164508.2(NEB):c.24625A>G (p.Thr8209Ala) rs1680474922
NM_001164508.2(NEB):c.24632A>C (p.Glu8211Ala) rs201243201
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile) rs770656983
NM_001164508.2(NEB):c.24657A>C (p.Gln8219His)
NM_001164508.2(NEB):c.24690C>G (p.Asn8230Lys) rs2058061871
NM_001164508.2(NEB):c.24700G>C (p.Ala8234Pro)
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile) rs369083039
NM_001164508.2(NEB):c.24722C>T (p.Pro8241Leu) rs2152851388
NM_001164508.2(NEB):c.24728T>G (p.Met8243Arg) rs778196202
NM_001164508.2(NEB):c.24731A>G (p.Glu8244Gly) rs2152851090
NM_001164508.2(NEB):c.24733A>G (p.Arg8245Gly) rs2058041442
NM_001164508.2(NEB):c.24764C>T (p.Ser8255Leu)
NM_001164508.2(NEB):c.24769C>T (p.Leu8257Phe)
NM_001164508.2(NEB):c.24772T>A (p.Tyr8258Asn)
NM_001164508.2(NEB):c.24775_24780del (p.Asp8260_Ser8261del)
NM_001164508.2(NEB):c.2477C>T (p.Ala826Val)
NM_001164508.2(NEB):c.24781A>G (p.Ser8261Gly)
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln) rs745615279
NM_001164508.2(NEB):c.24799C>G (p.Gln8267Glu) rs2152828559
NM_001164508.2(NEB):c.2479A>G (p.Ile827Val)
NM_001164508.2(NEB):c.24802G>A (p.Gly8268Ser)
NM_001164508.2(NEB):c.24817G>A (p.Val8273Ile)
NM_001164508.2(NEB):c.24829C>G (p.Pro8277Ala)
NM_001164508.2(NEB):c.24830C>A (p.Pro8277His) rs2152828148
NM_001164508.2(NEB):c.24832G>C (p.Glu8278Gln)
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys) rs759522039
NM_001164508.2(NEB):c.24845T>C (p.Val8282Ala)
NM_001164508.2(NEB):c.24857A>G (p.Gln8286Arg)
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val) rs2099513616
NM_001164508.2(NEB):c.24873G>T (p.Thr8291=)
NM_001164508.2(NEB):c.24875T>C (p.Val8292Ala)
NM_001164508.2(NEB):c.24907G>C (p.Gly8303Arg) rs780925059
NM_001164508.2(NEB):c.24908G>A (p.Gly8303Asp)
NM_001164508.2(NEB):c.24925G>C (p.Val8309Leu) rs1401528056
NM_001164508.2(NEB):c.24946C>G (p.Arg8316Gly)
NM_001164508.2(NEB):c.24949G>A (p.Val8317Ile) rs1341580706
NM_001164508.2(NEB):c.24971T>C (p.Phe8324Ser)
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr) rs775698655
NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)
NM_001164508.2(NEB):c.25007T>C (p.Val8336Ala) rs1574651626
NM_001164508.2(NEB):c.25010T>G (p.Val8337Gly) rs2057127460
NM_001164508.2(NEB):c.25021C>A (p.Gln8341Lys)
NM_001164508.2(NEB):c.25037A>G (p.Gln8346Arg) rs2057118708
NM_001164508.2(NEB):c.25049C>T (p.Thr8350Ile) rs2057112732
NM_001164508.2(NEB):c.25066G>A (p.Val8356Ile)
NM_001164508.2(NEB):c.25088C>T (p.Ser8363Leu)
NM_001164508.2(NEB):c.25099T>C (p.Tyr8367His)
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala) rs1038960610
NM_001164508.2(NEB):c.25130G>C (p.Arg8377Pro)
NM_001164508.2(NEB):c.25132A>G (p.Ser8378Gly)
NM_001164508.2(NEB):c.25153C>A (p.Gln8385Lys)
NM_001164508.2(NEB):c.25162C>A (p.Arg8388Ser)
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
NM_001164508.2(NEB):c.25180T>C (p.Ser8394Pro)
NM_001164508.2(NEB):c.25184G>T (p.Arg8395Leu) rs779983347
NM_001164508.2(NEB):c.25192A>G (p.Ser8398Gly) rs1308512715
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
NM_001164508.2(NEB):c.25214G>T (p.Gly8405Val) rs768811942
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
NM_001164508.2(NEB):c.2523+6T>C rs2099513341
NM_001164508.2(NEB):c.2524-12A>G
NM_001164508.2(NEB):c.25255C>T (p.Leu8419Phe)
NM_001164508.2(NEB):c.25297+4C>T rs1410859190
NM_001164508.2(NEB):c.25304A>G (p.Lys8435Arg)
NM_001164508.2(NEB):c.25360C>T (p.Gln8454Ter)
NM_001164508.2(NEB):c.25361A>G (p.Gln8454Arg)
NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala) rs2152762849
NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr) rs1280701887
NM_001164508.2(NEB):c.2542T>C (p.Tyr848His)
NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)
NM_001164508.2(NEB):c.25447G>C (p.Asp8483His) rs993833092
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)
NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn) rs1574251962
NM_001164508.2(NEB):c.254A>G (p.Tyr85Cys) rs1201662596
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)
NM_001164508.2(NEB):c.2552G>A (p.Ser851Asn)
NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp) rs2152614968
NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe) rs117861109
NM_001164508.2(NEB):c.2567T>C (p.Ile856Thr)
NM_001164508.2(NEB):c.2569G>A (p.Gly857Arg) rs1559253666
NM_001164508.2(NEB):c.2572G>A (p.Ala858Thr)
NM_001164508.2(NEB):c.2581A>G (p.Ile861Val) rs755695934
NM_001164508.2(NEB):c.2586T>A (p.Asn862Lys)
NM_001164508.2(NEB):c.25G>A (p.Glu9Lys) rs2151148401
NM_001164508.2(NEB):c.2609C>T (p.Ser870Phe) rs896068588
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
NM_001164508.2(NEB):c.2624A>G (p.Lys875Arg)
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu) rs373892420
NM_001164508.2(NEB):c.2637+3G>C
NM_001164508.2(NEB):c.2659G>A (p.Glu887Lys) rs1553558398
NM_001164508.2(NEB):c.2678A>G (p.Tyr893Cys)
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
NM_001164508.2(NEB):c.2681C>T (p.Thr894Met)
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser) rs2099480203
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn)
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr) rs549231016
NM_001164508.2(NEB):c.2835+20G>A
NM_001164508.2(NEB):c.2835+5G>C rs2148837364
NM_001164508.2(NEB):c.2835+7A>T
NM_001164508.2(NEB):c.2866A>T (p.Met956Leu)
NM_001164508.2(NEB):c.2906T>G (p.Met969Arg) rs2099429603
NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu) rs368642083
NM_001164508.2(NEB):c.2942A>G (p.Glu981Gly) rs1225494274
NM_001164508.2(NEB):c.2943+5dup rs2099429370
NM_001164508.2(NEB):c.296A>T (p.Asn99Ile)
NM_001164508.2(NEB):c.2975A>T (p.Lys992Met)
NM_001164508.2(NEB):c.2998C>G (p.Pro1000Ala) rs763910385
NM_001164508.2(NEB):c.3022A>G (p.Asn1008Asp) rs1576128802
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro) rs770003609
NM_001164508.2(NEB):c.3042+3_3042+6del rs2099408346
NM_001164508.2(NEB):c.3047C>T (p.Ala1016Val) rs2148609477
NM_001164508.2(NEB):c.3071T>C (p.Ile1024Thr)
NM_001164508.2(NEB):c.3098A>G (p.Asp1033Gly)
NM_001164508.2(NEB):c.3101T>C (p.Leu1034Pro)
NM_001164508.2(NEB):c.3147+14C>T
NM_001164508.2(NEB):c.3147+5G>T
NM_001164508.2(NEB):c.3148-3C>A
NM_001164508.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001164508.2(NEB):c.3165C>G (p.Asp1055Glu)
NM_001164508.2(NEB):c.3183G>C (p.Lys1061Asn)
NM_001164508.2(NEB):c.3190T>A (p.Tyr1064Asn) rs2148596836
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val) rs371710158
NM_001164508.2(NEB):c.3223G>A (p.Ala1075Thr)
NM_001164508.2(NEB):c.3230A>G (p.Lys1077Arg) rs2099400877
NM_001164508.2(NEB):c.3235G>T (p.Ala1079Ser) rs1576082029
NM_001164508.2(NEB):c.3238_3239insAACCTGCCA (p.Ala1079_Arg1080insLysProAla) rs2099400833
NM_001164508.2(NEB):c.3286A>G (p.Lys1096Glu)
NM_001164508.2(NEB):c.3320A>T (p.Asp1107Val)
NM_001164508.2(NEB):c.3362A>G (p.Gln1121Arg) rs1559152642
NM_001164508.2(NEB):c.3397A>G (p.Thr1133Ala) rs1294520829
NM_001164508.2(NEB):c.3428T>A (p.Met1143Lys) rs1428000725
NM_001164508.2(NEB):c.3445G>T (p.Ala1149Ser) rs752178904
NM_001164508.2(NEB):c.3474T>G (p.Asn1158Lys)
NM_001164508.2(NEB):c.3500A>G (p.His1167Arg) rs2154210444
NM_001164508.2(NEB):c.352G>T (p.Asp118Tyr)
NM_001164508.2(NEB):c.3551T>C (p.Met1184Thr) rs1308063415
NM_001164508.2(NEB):c.3568-15_3568-14insGCCCTCACTCCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_001164508.2(NEB):c.36+2dup
NM_001164508.2(NEB):c.36+4A>G
NM_001164508.2(NEB):c.3616A>G (p.Ile1206Val)
NM_001164508.2(NEB):c.3630T>G (p.Ser1210Arg)
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
NM_001164508.2(NEB):c.3664G>T (p.Ala1222Ser)
NM_001164508.2(NEB):c.3677A>G (p.Lys1226Arg) rs2099381015
NM_001164508.2(NEB):c.3681G>T (p.Lys1227Asn)
NM_001164508.2(NEB):c.3698A>G (p.Asp1233Gly)
NM_001164508.2(NEB):c.3700A>G (p.Thr1234Ala)
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile) rs1311528896
NM_001164508.2(NEB):c.3715A>C (p.Ser1239Arg) rs759109957
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg) rs765671775
NM_001164508.2(NEB):c.3724G>A (p.Asp1242Asn)
NM_001164508.2(NEB):c.3774+4A>C rs1026503983
NM_001164508.2(NEB):c.3776T>C (p.Ile1259Thr) rs1553522143
NM_001164508.2(NEB):c.3786G>T (p.Lys1262Asn)
NM_001164508.2(NEB):c.3788C>A (p.Ala1263Asp) rs1575886894
NM_001164508.2(NEB):c.3807A>C (p.Lys1269Asn)
NM_001164508.2(NEB):c.3853A>G (p.Lys1285Glu)
NM_001164508.2(NEB):c.3869A>G (p.Asn1290Ser)
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
NM_001164508.2(NEB):c.3879+2dup rs2099350895
NM_001164508.2(NEB):c.3879C>T (p.Asp1293=)
NM_001164508.2(NEB):c.3896A>T (p.Asp1299Val)
NM_001164508.2(NEB):c.3910A>G (p.Ile1304Val)
NM_001164508.2(NEB):c.3918G>T (p.Lys1306Asn)
NM_001164508.2(NEB):c.3938A>G (p.Asp1313Gly) rs2154198103
NM_001164508.2(NEB):c.3940G>A (p.Ala1314Thr) rs2154198100
NM_001164508.2(NEB):c.3943A>G (p.Ile1315Val)
NM_001164508.2(NEB):c.3943_3945delinsTGG (p.Ile1315Trp)
NM_001164508.2(NEB):c.394C>T (p.Leu132Phe) rs2099787743
NM_001164508.2(NEB):c.4010A>G (p.Glu1337Gly) rs921890762
NM_001164508.2(NEB):c.401A>G (p.Glu134Gly) rs2150794998
NM_001164508.2(NEB):c.402+4G>A rs1162289427
NM_001164508.2(NEB):c.402+4_402+27del
NM_001164508.2(NEB):c.4027C>G (p.His1343Asp)
NM_001164508.2(NEB):c.4034G>A (p.Gly1345Asp)
NM_001164508.2(NEB):c.4042A>G (p.Ser1348Gly)
NM_001164508.2(NEB):c.4073A>G (p.Tyr1358Cys) rs1223706560
NM_001164508.2(NEB):c.4119C>A (p.Asn1373Lys) rs377653217
NM_001164508.2(NEB):c.4144C>G (p.His1382Asp) rs2099313352
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
NM_001164508.2(NEB):c.4192G>T (p.Asp1398Tyr)
NM_001164508.2(NEB):c.4214A>G (p.Tyr1405Cys)
NM_001164508.2(NEB):c.422G>A (p.Gly141Asp) rs973669056
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln) rs2099312411
NM_001164508.2(NEB):c.4264G>C (p.Glu1422Gln) rs921972170
NM_001164508.2(NEB):c.4300-3C>T rs2154190807
NM_001164508.2(NEB):c.4325G>T (p.Ser1442Ile)
NM_001164508.2(NEB):c.4339A>G (p.Ile1447Val)
NM_001164508.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala) rs918736685
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
NM_001164508.2(NEB):c.441A>G (p.Ile147Met) rs2099785798
NM_001164508.2(NEB):c.4424A>G (p.His1475Arg) rs2154190465
NM_001164508.2(NEB):c.4432A>G (p.Thr1478Ala) rs2099279650
NM_001164508.2(NEB):c.4439A>C (p.Lys1480Thr)
NM_001164508.2(NEB):c.4448G>A (p.Ser1483Asn) rs1417148362
NM_001164508.2(NEB):c.4462A>G (p.Met1488Val)
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val) rs74482326
NM_001164508.2(NEB):c.446A>G (p.His149Arg) rs2150762228
NM_001164508.2(NEB):c.4498C>T (p.Leu1500=)
NM_001164508.2(NEB):c.4506+4A>G
NM_001164508.2(NEB):c.4520T>G (p.Val1507Gly)
NM_001164508.2(NEB):c.4523A>G (p.Glu1508Gly)
NM_001164508.2(NEB):c.4526G>A (p.Gly1509Glu) rs2154185771
NM_001164508.2(NEB):c.452A>G (p.Asp151Gly)
NM_001164508.2(NEB):c.4568C>T (p.Pro1523Leu)
NM_001164508.2(NEB):c.4583C>T (p.Ala1528Val) rs1023227996
NM_001164508.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001164508.2(NEB):c.4603A>G (p.Met1535Val)
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=) rs2099254265
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp) rs2099240158
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
NM_001164508.2(NEB):c.4694A>C (p.Lys1565Thr)
NM_001164508.2(NEB):c.4703G>A (p.Arg1568Lys)
NM_001164508.2(NEB):c.4738T>C (p.Tyr1580His) rs2154179233
NM_001164508.2(NEB):c.476A>G (p.His159Arg)
NM_001164508.2(NEB):c.4775G>C (p.Ser1592Thr)
NM_001164508.2(NEB):c.47A>G (p.Glu16Gly)
NM_001164508.2(NEB):c.4802A>G (p.His1601Arg)
NM_001164508.2(NEB):c.4819A>G (p.Lys1607Glu)
NM_001164508.2(NEB):c.481A>G (p.Lys161Glu) rs1440684786
NM_001164508.2(NEB):c.4834C>A (p.Arg1612Ser) rs200545007
NM_001164508.2(NEB):c.4835G>C (p.Arg1612Pro)
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu) rs1237432906
NM_001164508.2(NEB):c.4847A>G (p.Lys1616Arg)
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys) rs759773612
NM_001164508.2(NEB):c.4868C>G (p.Thr1623Ser)
NM_001164508.2(NEB):c.4880C>T (p.Thr1627Ile) rs1651215974
NM_001164508.2(NEB):c.4934C>A (p.Thr1645Asn)
NM_001164508.2(NEB):c.4937A>G (p.Asn1646Ser)
NM_001164508.2(NEB):c.4938C>A (p.Asn1646Lys)
NM_001164508.2(NEB):c.4960C>A (p.His1654Asn) rs2154178833
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg) rs2099214775
NM_001164508.2(NEB):c.4970C>G (p.Thr1657Ser)
NM_001164508.2(NEB):c.4985C>A (p.Ala1662Asp) rs2154178777
NM_001164508.2(NEB):c.4987T>A (p.Leu1663Met) rs2154178771
NM_001164508.2(NEB):c.499G>C (p.Val167Leu)
NM_001164508.2(NEB):c.5024A>G (p.Gln1675Arg) rs2099214265
NM_001164508.2(NEB):c.5030A>G (p.Asp1677Gly)
NM_001164508.2(NEB):c.5039_5044del (p.Tyr1680_Lys1681del) rs1300563797
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser) rs764638678
NM_001164508.2(NEB):c.5104G>A (p.Glu1702Lys)
NM_001164508.2(NEB):c.5120C>A (p.Ala1707Glu) rs1575576650
NM_001164508.2(NEB):c.5132T>C (p.Leu1711Pro) rs2099203051
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del) rs1553492424
NM_001164508.2(NEB):c.5150G>T (p.Arg1717Leu) rs747091795
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001164508.2(NEB):c.5211_5213del (p.Asn1737del) rs1553491789
NM_001164508.2(NEB):c.5239A>G (p.Arg1747Gly) rs1272476034
NM_001164508.2(NEB):c.5257T>C (p.Trp1753Arg)
NM_001164508.2(NEB):c.5261A>G (p.Asn1754Ser)
NM_001164508.2(NEB):c.5264A>T (p.Lys1755Met)
NM_001164508.2(NEB):c.5279T>G (p.Ile1760Ser)
NM_001164508.2(NEB):c.529G>A (p.Glu177Lys) rs1403433350
NM_001164508.2(NEB):c.52G>C (p.Val18Leu) rs2150994592
NM_001164508.2(NEB):c.5304T>A (p.Asp1768Glu)
NM_001164508.2(NEB):c.5311C>T (p.Leu1771Phe)
NM_001164508.2(NEB):c.5329A>G (p.Ile1777Val)
NM_001164508.2(NEB):c.5335A>T (p.Met1779Leu) rs962698882
NM_001164508.2(NEB):c.5337G>A (p.Met1779Ile)
NM_001164508.2(NEB):c.5345A>C (p.Lys1782Thr)
NM_001164508.2(NEB):c.5348T>C (p.Leu1783Pro)
NM_001164508.2(NEB):c.5365G>A (p.Glu1789Lys) rs774196513
NM_001164508.2(NEB):c.5403T>G (p.Asp1801Glu)
NM_001164508.2(NEB):c.5405C>A (p.Ala1802Asp)
NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser) rs374677022
NM_001164508.2(NEB):c.5420C>G (p.Ala1807Gly) rs373790988
NM_001164508.2(NEB):c.5432C>G (p.Ser1811Cys)
NM_001164508.2(NEB):c.5436A>C (p.Arg1812Ser)
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn) rs2099187269
NM_001164508.2(NEB):c.5444C>G (p.Ala1815Gly) rs767491081
NM_001164508.2(NEB):c.5451T>C (p.Asp1817=)
NM_001164508.2(NEB):c.5467G>T (p.Ala1823Ser) rs2099173290
NM_001164508.2(NEB):c.5515G>A (p.Asp1839Asn) rs2099172820
NM_001164508.2(NEB):c.5525A>G (p.Lys1842Arg) rs2099172694
NM_001164508.2(NEB):c.5535C>G (p.His1845Gln)
NM_001164508.2(NEB):c.5555T>C (p.Met1852Thr) rs144180493
NM_001164508.2(NEB):c.5558A>C (p.Gln1853Pro) rs748760784
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001164508.2(NEB):c.5587G>A (p.Glu1863Lys)
NM_001164508.2(NEB):c.5596A>G (p.Lys1866Glu)
NM_001164508.2(NEB):c.5612C>A (p.Thr1871Asn) rs753865894
NM_001164508.2(NEB):c.5630G>T (p.Ser1877Ile)
NM_001164508.2(NEB):c.5641_5642delinsAG (p.Ala1881Ser) rs2154172447
NM_001164508.2(NEB):c.5669A>T (p.Asn1890Ile)
NM_001164508.2(NEB):c.5678A>G (p.Tyr1893Cys)
NM_001164508.2(NEB):c.5683A>C (p.Asn1895His)
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5699A>T (p.Tyr1900Phe)
NM_001164508.2(NEB):c.5717C>T (p.Ala1906Val) rs2099170735
NM_001164508.2(NEB):c.5719A>G (p.Met1907Val)
NM_001164508.2(NEB):c.5720T>G (p.Met1907Arg)
NM_001164508.2(NEB):c.5754T>G (p.Ile1918Met)
NM_001164508.2(NEB):c.5767C>G (p.Gln1923Glu) rs2154169026
NM_001164508.2(NEB):c.5771A>C (p.Tyr1924Ser)
NM_001164508.2(NEB):c.5771A>G (p.Tyr1924Cys) rs747326135
NM_001164508.2(NEB):c.5806G>A (p.Gly1936Arg) rs997951612
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu) rs1486289467
NM_001164508.2(NEB):c.5824T>A (p.Ser1942Thr) rs2154168846
NM_001164508.2(NEB):c.5836G>A (p.Glu1946Lys)
NM_001164508.2(NEB):c.5843A>T (p.Asn1948Ile) rs2154168814
NM_001164508.2(NEB):c.5864T>C (p.Ile1955Thr)
NM_001164508.2(NEB):c.5895C>A (p.Asp1965Glu)
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
NM_001164508.2(NEB):c.5935G>C (p.Val1979Leu) rs771329756
NM_001164508.2(NEB):c.5936T>C (p.Val1979Ala) rs749553879
NM_001164508.2(NEB):c.5945A>C (p.Gln1982Pro) rs1212716508
NM_001164508.2(NEB):c.5971-12T>C
NM_001164508.2(NEB):c.5973T>A (p.His1991Gln)
NM_001164508.2(NEB):c.5985A>G (p.Gln1995=) rs2099118542
NM_001164508.2(NEB):c.5986G>A (p.Ala1996Thr)
NM_001164508.2(NEB):c.5986G>C (p.Ala1996Pro)
NM_001164508.2(NEB):c.5987C>A (p.Ala1996Glu)
NM_001164508.2(NEB):c.5992G>C (p.Glu1998Gln)
NM_001164508.2(NEB):c.6031C>T (p.Pro2011Ser)
NM_001164508.2(NEB):c.6032C>T (p.Pro2011Leu) rs2099118243
NM_001164508.2(NEB):c.6035A>G (p.Gln2012Arg) rs2154157733
NM_001164508.2(NEB):c.6046G>C (p.Ala2016Pro) rs1558927613
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6075+8T>C
NM_001164508.2(NEB):c.6077A>G (p.Lys2026Arg)
NM_001164508.2(NEB):c.6080T>A (p.Leu2027His)
NM_001164508.2(NEB):c.6085A>C (p.Lys2029Gln) rs1387009037
NM_001164508.2(NEB):c.6143C>T (p.Pro2048Leu)
NM_001164508.2(NEB):c.6179G>T (p.Ser2060Ile)
NM_001164508.2(NEB):c.617T>G (p.Leu206Arg)
NM_001164508.2(NEB):c.6184-17_6184-16del
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1]) rs767681176
NM_001164508.2(NEB):c.6226G>A (p.Val2076Ile)
NM_001164508.2(NEB):c.6241C>T (p.Leu2081Phe)
NM_001164508.2(NEB):c.6242T>G (p.Leu2081Arg) rs2099085781
NM_001164508.2(NEB):c.6254C>T (p.Pro2085Leu) rs773025267
NM_001164508.2(NEB):c.6263T>C (p.Val2088Ala)
NM_001164508.2(NEB):c.6271A>C (p.Met2091Leu)
NM_001164508.2(NEB):c.6288G>A (p.Met2096Ile) rs2154149119
NM_001164508.2(NEB):c.6323A>G (p.Asn2108Ser) rs1558891493
NM_001164508.2(NEB):c.6340C>T (p.His2114Tyr)
NM_001164508.2(NEB):c.6355A>G (p.Met2119Val)
NM_001164508.2(NEB):c.6394A>G (p.Ile2132Val) rs755394940
NM_001164508.2(NEB):c.6403A>G (p.Thr2135Ala)
NM_001164508.2(NEB):c.6430T>G (p.Tyr2144Asp)
NM_001164508.2(NEB):c.6455A>G (p.Asn2152Ser)
NM_001164508.2(NEB):c.6467C>G (p.Thr2156Ser)
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn) rs1234273631
NM_001164508.2(NEB):c.6493G>C (p.Asp2165His) rs1234273631
NM_001164508.2(NEB):c.64G>A (p.Glu22Lys) rs2150994058
NM_001164508.2(NEB):c.6502T>C (p.Tyr2168His)
NM_001164508.2(NEB):c.6547C>A (p.Pro2183Thr)
NM_001164508.2(NEB):c.6568G>A (p.Glu2190Lys) rs2099082027
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
NM_001164508.2(NEB):c.6591A>G (p.Glu2197=) rs1553462437
NM_001164508.2(NEB):c.6629A>C (p.Asn2210Thr) rs768864684
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001164508.2(NEB):c.6660G>A (p.Met2220Ile) rs199766131
NM_001164508.2(NEB):c.6679C>G (p.Gln2227Glu)
NM_001164508.2(NEB):c.6713C>G (p.Thr2238Ser)
NM_001164508.2(NEB):c.6713C>T (p.Thr2238Ile)
NM_001164508.2(NEB):c.6719A>G (p.Asp2240Gly) rs1362776689
NM_001164508.2(NEB):c.6730G>A (p.Asp2244Asn)
NM_001164508.2(NEB):c.6778G>A (p.Ala2260Thr)
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn) rs2099075647
NM_001164508.2(NEB):c.6828G>C (p.Trp2276Cys) rs2099059984
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp) rs1363435897
NM_001164508.2(NEB):c.6851A>C (p.Tyr2284Ser) rs778637750
NM_001164508.2(NEB):c.6867_6869dup (p.Ala2290_Ile2291insAla)
NM_001164508.2(NEB):c.6873T>G (p.Ile2291Met) rs1265000238
NM_001164508.2(NEB):c.6884T>C (p.Leu2295Pro) rs2099059670
NM_001164508.2(NEB):c.6914A>T (p.Asp2305Val)
NM_001164508.2(NEB):c.6916-16_6916-8del rs2099021798
NM_001164508.2(NEB):c.6922T>A (p.Tyr2308Asn)
NM_001164508.2(NEB):c.6923A>G (p.Tyr2308Cys)
NM_001164508.2(NEB):c.6926A>C (p.Lys2309Thr)
NM_001164508.2(NEB):c.6928C>A (p.Gln2310Lys)
NM_001164508.2(NEB):c.6928C>G (p.Gln2310Glu)
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser) rs757526825
NM_001164508.2(NEB):c.6935A>G (p.Tyr2312Cys)
NM_001164508.2(NEB):c.6946C>G (p.Leu2316Val)
NM_001164508.2(NEB):c.6954C>G (p.His2318Gln)
NM_001164508.2(NEB):c.6961G>A (p.Gly2321Arg) rs1575132924
NM_001164508.2(NEB):c.7003A>G (p.Met2335Val)
NM_001164508.2(NEB):c.7004T>C (p.Met2335Thr) rs769646337
NM_001164508.2(NEB):c.7025G>C (p.Ser2342Thr) rs372132667
NM_001164508.2(NEB):c.7033G>C (p.Glu2345Gln)
NM_001164508.2(NEB):c.7039A>G (p.Lys2347Glu)
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
NM_001164508.2(NEB):c.709C>T (p.Leu237Phe)
NM_001164508.2(NEB):c.7102C>G (p.Leu2368Val) rs1553449170
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001164508.2(NEB):c.7144A>G (p.Lys2382Glu)
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg) rs2099020273
NM_001164508.2(NEB):c.7198G>A (p.Ala2400Thr)
NM_001164508.2(NEB):c.71C>A (p.Pro24Gln)
NM_001164508.2(NEB):c.7207G>C (p.Val2403Leu)
NM_001164508.2(NEB):c.7228-3C>G rs577996029
NM_001164508.2(NEB):c.7265T>G (p.Ile2422Arg)
NM_001164508.2(NEB):c.727A>G (p.Lys243Glu)
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg) rs1031592589
NM_001164508.2(NEB):c.7310G>T (p.Arg2437Leu) rs61730780
NM_001164508.2(NEB):c.7312G>A (p.Ala2438Thr) rs202233025
NM_001164508.2(NEB):c.7318G>A (p.Glu2440Lys)
NM_001164508.2(NEB):c.7324A>G (p.Ile2442Val) rs1553447698
NM_001164508.2(NEB):c.7328G>T (p.Ser2443Ile)
NM_001164508.2(NEB):c.7339T>C (p.Tyr2447His)
NM_001164508.2(NEB):c.7369A>C (p.Thr2457Pro)
NM_001164508.2(NEB):c.7372A>G (p.Ser2458Gly)
NM_001164508.2(NEB):c.7373_7374delinsAA (p.Ser2458Lys)
NM_001164508.2(NEB):c.7421A>C (p.Asn2474Thr)
NM_001164508.2(NEB):c.7434A>T (p.Arg2478Ser)
NM_001164508.2(NEB):c.7469A>C (p.Gln2490Pro) rs1446110323
NM_001164508.2(NEB):c.7487A>G (p.Asp2496Gly) rs767734665
NM_001164508.2(NEB):c.74G>A (p.Gly25Glu)
NM_001164508.2(NEB):c.7523T>C (p.Ile2508Thr)
NM_001164508.2(NEB):c.7538A>G (p.Lys2513Arg) rs190059793
NM_001164508.2(NEB):c.7543T>C (p.Tyr2515His)
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
NM_001164508.2(NEB):c.7569G>C (p.Lys2523Asn)
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
NM_001164508.2(NEB):c.7603C>A (p.Pro2535Thr)
NM_001164508.2(NEB):c.7645-6dup
NM_001164508.2(NEB):c.7646A>G (p.Tyr2549Cys) rs1553984101
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001164508.2(NEB):c.7667G>A (p.Arg2556His)
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu)
NM_001164508.2(NEB):c.7679G>T (p.Gly2560Val)
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
NM_001164508.2(NEB):c.7697G>C (p.Arg2566Pro)
NM_001164508.2(NEB):c.7706A>C (p.Glu2569Ala)
NM_001164508.2(NEB):c.7710T>A (p.Asp2570Glu)
NM_001164508.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001164508.2(NEB):c.7733T>C (p.Met2578Thr)
NM_001164508.2(NEB):c.7740G>A (p.Val2580=) rs2098921464
NM_001164508.2(NEB):c.7751A>G (p.Gln2584Arg)
NM_001164508.2(NEB):c.7762G>A (p.Glu2588Lys) rs756738995
NM_001164508.2(NEB):c.7769A>G (p.Lys2590Arg)
NM_001164508.2(NEB):c.776C>T (p.Pro259Leu)
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser) rs1425616065
NM_001164508.2(NEB):c.7802G>A (p.Ser2601Asn)
NM_001164508.2(NEB):c.7837_7839delinsCAC (p.Lys2613His)
NM_001164508.2(NEB):c.7844G>T (p.Cys2615Phe) rs749508488
NM_001164508.2(NEB):c.7865T>C (p.Val2622Ala) rs563691738
NM_001164508.2(NEB):c.7867G>A (p.Asp2623Asn) rs543795912
NM_001164508.2(NEB):c.7882C>G (p.Leu2628Val) rs1222037893
NM_001164508.2(NEB):c.78G>A (p.Glu26=) rs1553702617
NM_001164508.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn) rs1574937918
NM_001164508.2(NEB):c.7915G>A (p.Asp2639Asn)
NM_001164508.2(NEB):c.7925A>G (p.His2642Arg)
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp)
NM_001164508.2(NEB):c.7956+13T>C
NM_001164508.2(NEB):c.7957-13C>G
NM_001164508.2(NEB):c.7957-20T>A
NM_001164508.2(NEB):c.7957-7C>T
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.7968G>C (p.Lys2656Asn)
NM_001164508.2(NEB):c.7993A>T (p.Ile2665Phe) rs2098910017
NM_001164508.2(NEB):c.8027A>G (p.Glu2676Gly) rs2154114705
NM_001164508.2(NEB):c.8029A>G (p.Lys2677Glu)
NM_001164508.2(NEB):c.8047C>A (p.Gln2683Lys) rs2154114662
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala) rs2098907855
NM_001164508.2(NEB):c.8111A>T (p.Asp2704Val)
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val) rs1574917037
NM_001164508.2(NEB):c.8159A>C (p.His2720Pro)
NM_001164508.2(NEB):c.8161C>A (p.Arg2721Ser)
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001164508.2(NEB):c.8171C>T (p.Thr2724Ile)
NM_001164508.2(NEB):c.8190T>A (p.Asp2730Glu)
NM_001164508.2(NEB):c.8203C>G (p.His2735Asp) rs759848500
NM_001164508.2(NEB):c.820A>G (p.Lys274Glu)
NM_001164508.2(NEB):c.8213C>T (p.Pro2738Leu)
NM_001164508.2(NEB):c.8219C>A (p.Thr2740Asn)
NM_001164508.2(NEB):c.8219C>T (p.Thr2740Ile) rs763429938
NM_001164508.2(NEB):c.8221C>T (p.Pro2741Ser)
NM_001164508.2(NEB):c.8251G>A (p.Val2751Ile)
NM_001164508.2(NEB):c.8305G>A (p.Gly2769Ser)
NM_001164508.2(NEB):c.8306G>T (p.Gly2769Val) rs762272453
NM_001164508.2(NEB):c.8315T>G (p.Met2772Arg) rs1574896797
NM_001164508.2(NEB):c.8326G>C (p.Ala2776Pro) rs2098890629
NM_001164508.2(NEB):c.8333C>T (p.Pro2778Leu) rs2154112954
NM_001164508.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001164508.2(NEB):c.8344_8345delinsTT (p.Ala2782Phe)
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro) rs398124173
NM_001164508.2(NEB):c.8359G>A (p.Asp2787Asn)
NM_001164508.2(NEB):c.8374-10C>A
NM_001164508.2(NEB):c.8374-3T>C rs2154105691
NM_001164508.2(NEB):c.8383A>G (p.Lys2795Glu)
NM_001164508.2(NEB):c.8386G>A (p.Glu2796Lys)
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
NM_001164508.2(NEB):c.8395C>G (p.Arg2799Gly) rs779321118
NM_001164508.2(NEB):c.8395C>T (p.Arg2799Cys)
NM_001164508.2(NEB):c.8398A>G (p.Lys2800Glu)
NM_001164508.2(NEB):c.8422G>T (p.Ala2808Ser)
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser) rs747131655
NM_001164508.2(NEB):c.8435G>A (p.Arg2812His)
NM_001164508.2(NEB):c.8461A>G (p.Met2821Val) rs2098834032
NM_001164508.2(NEB):c.8485G>A (p.Asp2829Asn)
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp) rs2098833761
NM_001164508.2(NEB):c.8498A>G (p.Lys2833Arg)
NM_001164508.2(NEB):c.8515T>A (p.Trp2839Arg)
NM_001164508.2(NEB):c.8530A>T (p.Ser2844Cys)
NM_001164508.2(NEB):c.8547G>C (p.Met2849Ile) rs2098833299
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu) rs1256097684
NM_001164508.2(NEB):c.8584G>T (p.Val2862Phe) rs949616238
NM_001164508.2(NEB):c.8590G>T (p.Asp2864Tyr)
NM_001164508.2(NEB):c.8597A>G (p.Asp2866Gly) rs370002964
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001164508.2(NEB):c.8599T>C (p.Tyr2867His)
NM_001164508.2(NEB):c.85A>G (p.Thr29Ala)
NM_001164508.2(NEB):c.8609A>G (p.Tyr2870Cys)
NM_001164508.2(NEB):c.8615A>G (p.His2872Arg) rs2098832647
NM_001164508.2(NEB):c.8617C>A (p.Gln2873Lys)
NM_001164508.2(NEB):c.8620T>A (p.Trp2874Arg) rs2154104967
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala) rs2098832346
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp) rs748618562
NM_001164508.2(NEB):c.8666C>G (p.Ala2889Gly)
NM_001164508.2(NEB):c.8668T>G (p.Tyr2890Asp)
NM_001164508.2(NEB):c.8680A>C (p.Ser2894Arg)
NM_001164508.2(NEB):c.8681G>A (p.Ser2894Asn) rs1420993227
NM_001164508.2(NEB):c.8685+3G>A
NM_001164508.2(NEB):c.8686-3C>T rs2098827787
NM_001164508.2(NEB):c.8693A>G (p.Tyr2898Cys)
NM_001164508.2(NEB):c.8717G>C (p.Arg2906Thr) rs2154103510
NM_001164508.2(NEB):c.8722A>C (p.Ile2908Leu)
NM_001164508.2(NEB):c.8726G>C (p.Gly2909Ala)
NM_001164508.2(NEB):c.8733_8734inv (p.Ser2912Pro)
NM_001164508.2(NEB):c.8789A>G (p.Asp2930Gly) rs979095688
NM_001164508.2(NEB):c.8790T>G (p.Asp2930Glu)
NM_001164508.2(NEB):c.8793A>C (p.Lys2931Asn) rs764708311
NM_001164508.2(NEB):c.8794A>G (p.Ile2932Val) rs2098826922
NM_001164508.2(NEB):c.8831G>A (p.Ser2944Asn)
NM_001164508.2(NEB):c.8851C>G (p.Gln2951Glu) rs2154103068
NM_001164508.2(NEB):c.8876T>A (p.Ile2959Asn) rs1228319024
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
NM_001164508.2(NEB):c.8897A>G (p.Tyr2966Cys) rs1560822452
NM_001164508.2(NEB):c.8982C>G (p.Ile2994Met) rs1251791997
NM_001164508.2(NEB):c.8997T>A (p.Ser2999Arg) rs2154090899
NM_001164508.2(NEB):c.9002A>G (p.Tyr3001Cys) rs1574635522
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn) rs2099741678
NM_001164508.2(NEB):c.9046C>G (p.Arg3016Gly) rs1057517977
NM_001164508.2(NEB):c.904A>G (p.Met302Val) rs755508128
NM_001164508.2(NEB):c.9052G>T (p.Asp3018Tyr)
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001164508.2(NEB):c.9056C>T (p.Ala3019Val) rs1394119778
NM_001164508.2(NEB):c.906G>A (p.Met302Ile)
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
NM_001164508.2(NEB):c.9108A>T (p.Lys3036Asn)
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser) rs758739517
NM_001164508.2(NEB):c.9124_9125inv (p.Cys3042His)
NM_001164508.2(NEB):c.9176A>G (p.Lys3059Arg)
NM_001164508.2(NEB):c.9193C>T (p.His3065Tyr)
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
NM_001164508.2(NEB):c.9336C>G (p.Asn3112Lys)
NM_001164508.2(NEB):c.9351G>T (p.Trp3117Cys)
NM_001164508.2(NEB):c.9365A>G (p.Asp3122Gly) rs2154080790
NM_001164508.2(NEB):c.9371G>A (p.Ser3124Asn)
NM_001164508.2(NEB):c.9374A>G (p.Asp3125Gly)
NM_001164508.2(NEB):c.9383A>G (p.His3128Arg) rs1460535254
NM_001164508.2(NEB):c.9389G>A (p.Arg3130Gln)
NM_001164508.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001164508.2(NEB):c.9398A>G (p.Tyr3133Cys)
NM_001164508.2(NEB):c.9407A>G (p.Gln3136Arg)
NM_001164508.2(NEB):c.9414+5G>A rs2154080637
NM_001164508.2(NEB):c.9439T>G (p.Trp3147Gly) rs2098662413
NM_001164508.2(NEB):c.943G>T (p.Asp315Tyr)
NM_001164508.2(NEB):c.9448G>A (p.Gly3150Ser)
NM_001164508.2(NEB):c.9463C>A (p.Pro3155Thr)
NM_001164508.2(NEB):c.9466A>T (p.Ile3156Phe) rs749280613
NM_001164508.2(NEB):c.9467T>C (p.Ile3156Thr) rs145770770
NM_001164508.2(NEB):c.946T>C (p.Phe316Leu) rs2150019628
NM_001164508.2(NEB):c.9473C>T (p.Ser3158Phe)
NM_001164508.2(NEB):c.9476T>C (p.Met3159Thr)
NM_001164508.2(NEB):c.9481G>A (p.Val3161Met) rs1560693635
NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg)
NM_001164508.2(NEB):c.9490T>C (p.Cys3164Arg) rs1292713138
NM_001164508.2(NEB):c.9494A>G (p.Lys3165Arg) rs771512413
NM_001164508.2(NEB):c.9503C>T (p.Thr3168Ile) rs2098661076
NM_001164508.2(NEB):c.9530G>A (p.Arg3177His)
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001164508.2(NEB):c.9542A>G (p.Asp3181Gly)
NM_001164508.2(NEB):c.9550A>G (p.Lys3184Glu)
NM_001164508.2(NEB):c.9551A>T (p.Lys3184Ile) rs2154073147
NM_001164508.2(NEB):c.9556A>T (p.Thr3186Ser) rs2154073125
NM_001164508.2(NEB):c.955A>G (p.Met319Val) rs1269690979
NM_001164508.2(NEB):c.9562G>A (p.Val3188Met)
NM_001164508.2(NEB):c.9586C>G (p.Leu3196Val)
NM_001164508.2(NEB):c.9587T>G (p.Leu3196Arg) rs754001835
NM_001164508.2(NEB):c.9590C>T (p.Ala3197Val) rs778131603
NM_001164508.2(NEB):c.9619C>A (p.Arg3207Ser) rs200351671
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001164508.2(NEB):c.9620G>T (p.Arg3207Leu) rs111841612
NM_001164508.2(NEB):c.9643A>G (p.Lys3215Glu)
NM_001164508.2(NEB):c.9659T>G (p.Ile3220Ser) rs2098651541
NM_001164508.2(NEB):c.9690G>A (p.Met3230Ile)
NM_001164508.2(NEB):c.9694G>A (p.Ala3232Thr) rs1329330602
NM_001164508.2(NEB):c.9704A>G (p.Asn3235Ser)
NM_001164508.2(NEB):c.9712A>G (p.Asn3238Asp)
NM_001164508.2(NEB):c.9723+4G>A rs577635321
NM_001164508.2(NEB):c.9725C>G (p.Thr3242Ser)
NM_001164508.2(NEB):c.9749A>C (p.Glu3250Ala)
NM_001164508.2(NEB):c.9751G>A (p.Ala3251Thr)
NM_001164508.2(NEB):c.9754A>C (p.Lys3252Gln)
NM_001164508.2(NEB):c.9760A>C (p.Lys3254Gln)
NM_001164508.2(NEB):c.9790C>G (p.Pro3264Ala) rs755708498
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg) rs1553934027
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg) rs772766917
NM_001164508.2(NEB):c.9848G>T (p.Gly3283Val) rs2098553051
NM_001164508.2(NEB):c.985G>A (p.Glu329Lys) rs753638647
NM_001164508.2(NEB):c.9868C>T (p.His3290Tyr)
NM_001164508.2(NEB):c.9871C>G (p.His3291Asp) rs2154061498
NM_001164508.2(NEB):c.9889A>G (p.Ile3297Val) rs1245785481
NM_001164508.2(NEB):c.9917C>T (p.Ser3306Phe) rs2154061189
NM_001164508.2(NEB):c.9919A>G (p.Met3307Val)
NM_001164508.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001164508.2(NEB):c.9922C>T (p.His3308Tyr) rs1369787156
NM_001164508.2(NEB):c.9925G>A (p.Val3309Met)
NM_001164508.2(NEB):c.9947G>A (p.Arg3316Lys)
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met) rs373285394
NM_001164508.2(NEB):c.9960G>C (p.Lys3320Asn)
NM_001256545.2(MEGF10):c.1007G>A (p.Ser336Asn) rs1554098971
NM_001256545.2(MEGF10):c.1012G>C (p.Ala338Pro) rs568794084
NM_001256545.2(MEGF10):c.1012_1013delinsAA (p.Ala338Lys) rs1764513317
NM_001256545.2(MEGF10):c.1036G>A (p.Ala346Thr) rs1764515080
NM_001256545.2(MEGF10):c.1070A>G (p.Glu357Gly) rs1353722744
NM_001256545.2(MEGF10):c.1124C>T (p.Thr375Ile)
NM_001256545.2(MEGF10):c.1130+2dup
NM_001256545.2(MEGF10):c.1136A>T (p.His379Leu) rs1764826026
NM_001256545.2(MEGF10):c.1138C>T (p.Pro380Ser)
NM_001256545.2(MEGF10):c.1168G>T (p.Gly390Cys) rs1289662592
NM_001256545.2(MEGF10):c.1169G>C (p.Gly390Ala)
NM_001256545.2(MEGF10):c.116G>C (p.Ser39Thr) rs1561575721
NM_001256545.2(MEGF10):c.117-3C>T rs1166247376
NM_001256545.2(MEGF10):c.1177G>A (p.Gly393Arg)
NM_001256545.2(MEGF10):c.1178G>A (p.Gly393Glu)
NM_001256545.2(MEGF10):c.1187G>A (p.Cys396Tyr)
NM_001256545.2(MEGF10):c.1199G>A (p.Cys400Tyr) rs2126967674
NM_001256545.2(MEGF10):c.1204C>G (p.Pro402Ala) rs2126967681
NM_001256545.2(MEGF10):c.1207G>A (p.Gly403Arg) rs1431165906
NM_001256545.2(MEGF10):c.1214A>G (p.Tyr405Cys)
NM_001256545.2(MEGF10):c.1282T>A (p.Cys428Ser)
NM_001256545.2(MEGF10):c.1300T>G (p.Phe434Val) rs1764833861
NM_001256545.2(MEGF10):c.1343A>G (p.Tyr448Cys) rs1438771856
NM_001256545.2(MEGF10):c.1363C>T (p.Arg455Cys)
NM_001256545.2(MEGF10):c.1369G>A (p.Gly457Ser)
NM_001256545.2(MEGF10):c.1391G>A (p.Cys464Tyr) rs1174965174
NM_001256545.2(MEGF10):c.1424C>T (p.Ala475Val) rs1580846493
NM_001256545.2(MEGF10):c.1426+3A>T rs191468697
NM_001256545.2(MEGF10):c.1444T>C (p.Cys482Arg)
NM_001256545.2(MEGF10):c.1460C>G (p.Pro487Arg) rs376778102
NM_001256545.2(MEGF10):c.149A>G (p.His50Arg)
NM_001256545.2(MEGF10):c.1533C>A (p.Asp511Glu)
NM_001256545.2(MEGF10):c.1533C>G (p.Asp511Glu) rs151266058
NM_001256545.2(MEGF10):c.1534G>A (p.Gly512Arg) rs758236594
NM_001256545.2(MEGF10):c.1536G>T (p.Gly512=) rs1764940862
NM_001256545.2(MEGF10):c.1540T>A (p.Cys514Ser) rs2126973506
NM_001256545.2(MEGF10):c.1552C>T (p.Pro518Ser)
NM_001256545.2(MEGF10):c.1562G>C (p.Arg521Pro) rs762636054
NM_001256545.2(MEGF10):c.1576G>A (p.Glu526Lys) rs752944860
NM_001256545.2(MEGF10):c.157G>T (p.Asp53Tyr)
NM_001256545.2(MEGF10):c.1598C>A (p.Thr533Lys) rs150043761
NM_001256545.2(MEGF10):c.1598C>T (p.Thr533Met) rs150043761
NM_001256545.2(MEGF10):c.160C>A (p.Gln54Lys) rs1761581164
NM_001256545.2(MEGF10):c.1622G>A (p.Arg541His) rs142664089
NM_001256545.2(MEGF10):c.1657A>C (p.Thr553Pro)
NM_001256545.2(MEGF10):c.1673G>A (p.Arg558His) rs182243856
NM_001256545.2(MEGF10):c.1685G>A (p.Gly562Glu) rs2126979792
NM_001256545.2(MEGF10):c.1687T>C (p.Trp563Arg) rs1580851905
NM_001256545.2(MEGF10):c.1694-3C>G rs2126999832
NM_001256545.2(MEGF10):c.1722G>C (p.Glu574Asp)
NM_001256545.2(MEGF10):c.1727G>T (p.Arg576Leu) rs201832505
NM_001256545.2(MEGF10):c.1738A>G (p.Asn580Asp)
NM_001256545.2(MEGF10):c.173C>T (p.Thr58Met)
NM_001256545.2(MEGF10):c.1771G>A (p.Ala591Thr)
NM_001256545.2(MEGF10):c.1774T>A (p.Ser592Thr)
NM_001256545.2(MEGF10):c.1792G>C (p.Gly598Arg)
NM_001256545.2(MEGF10):c.1841T>A (p.Ile614Asn)
NM_001256545.2(MEGF10):c.1846T>A (p.Ser616Thr)
NM_001256545.2(MEGF10):c.1847C>T (p.Ser616Phe)
NM_001256545.2(MEGF10):c.1849C>T (p.Pro617Ser) rs752036559
NM_001256545.2(MEGF10):c.185A>G (p.Asp62Gly)
NM_001256545.2(MEGF10):c.1867C>T (p.Arg623Cys) rs756234600
NM_001256545.2(MEGF10):c.1907G>A (p.Gly636Glu) rs1765500413
NM_001256545.2(MEGF10):c.1910C>A (p.Pro637His) rs1580866586
NM_001256545.2(MEGF10):c.1910C>T (p.Pro637Leu) rs1580866586
NM_001256545.2(MEGF10):c.1958G>A (p.Gly653Asp)
NM_001256545.2(MEGF10):c.195C>G (p.Asn65Lys)
NM_001256545.2(MEGF10):c.1972G>A (p.Glu658Lys) rs1765502480
NM_001256545.2(MEGF10):c.1975G>C (p.Val659Leu) rs1580866706
NM_001256545.2(MEGF10):c.1976-9T>G rs759695616
NM_001256545.2(MEGF10):c.197G>T (p.Trp66Leu)
NM_001256545.2(MEGF10):c.1999A>G (p.Lys667Glu)
NM_001256545.2(MEGF10):c.2000A>G (p.Lys667Arg) rs2127003826
NM_001256545.2(MEGF10):c.2026A>G (p.Thr676Ala) rs1580867525
NM_001256545.2(MEGF10):c.2029A>G (p.Asn677Asp)
NM_001256545.2(MEGF10):c.2031C>A (p.Asn677Lys)
NM_001256545.2(MEGF10):c.2033A>C (p.Asn678Thr) rs1765522424
NM_001256545.2(MEGF10):c.2057G>T (p.Arg686Ile) rs1448285273
NM_001256545.2(MEGF10):c.2065C>A (p.Gln689Lys) rs1765523490
NM_001256545.2(MEGF10):c.2086G>A (p.Gly696Ser)
NM_001256545.2(MEGF10):c.2179T>C (p.Tyr727His) rs1765638849
NM_001256545.2(MEGF10):c.2187G>A (p.Gly729=)
NM_001256545.2(MEGF10):c.219-3T>C rs1357482042
NM_001256545.2(MEGF10):c.2211G>C (p.Trp737Cys) rs1765640354
NM_001256545.2(MEGF10):c.2227A>G (p.Thr743Ala) rs1423139586
NM_001256545.2(MEGF10):c.2281T>C (p.Cys761Arg) rs1765727854
NM_001256545.2(MEGF10):c.2302G>A (p.Asp768Asn)
NM_001256545.2(MEGF10):c.2323A>G (p.Thr775Ala)
NM_001256545.2(MEGF10):c.2330G>T (p.Arg777Leu) rs565304206
NM_001256545.2(MEGF10):c.2333C>G (p.Thr778Ser) rs1419621714
NM_001256545.2(MEGF10):c.2338T>C (p.Phe780Leu)
NM_001256545.2(MEGF10):c.2341A>T (p.Met781Leu)
NM_001256545.2(MEGF10):c.2351A>G (p.His784Arg)
NM_001256545.2(MEGF10):c.2410T>A (p.Cys804Ser) rs2127019985
NM_001256545.2(MEGF10):c.2431G>A (p.Asp811Asn) rs1554102007
NM_001256545.2(MEGF10):c.2431G>C (p.Asp811His) rs1554102007
NM_001256545.2(MEGF10):c.2464G>A (p.Gly822Arg) rs1280125525
NM_001256545.2(MEGF10):c.2467T>A (p.Trp823Arg) rs1402417139
NM_001256545.2(MEGF10):c.2482T>A (p.Cys828Ser)
NM_001256545.2(MEGF10):c.2495G>C (p.Gly832Ala) rs1765907936
NM_001256545.2(MEGF10):c.2531G>C (p.Arg844Pro) rs138372925
NM_001256545.2(MEGF10):c.2539A>C (p.Thr847Pro) rs1765909921
NM_001256545.2(MEGF10):c.2566A>G (p.Ile856Val) rs1765910939
NM_001256545.2(MEGF10):c.2566A>T (p.Ile856Phe) rs1765910939
NM_001256545.2(MEGF10):c.2570G>C (p.Gly857Ala) rs1580880208
NM_001256545.2(MEGF10):c.2582G>A (p.Gly861Asp)
NM_001256545.2(MEGF10):c.2632A>G (p.Ile878Val)
NM_001256545.2(MEGF10):c.2636A>G (p.Tyr879Cys) rs1765915785
NM_001256545.2(MEGF10):c.2674G>A (p.Ala892Thr)
NM_001256545.2(MEGF10):c.2677G>A (p.Val893Ile)
NM_001256545.2(MEGF10):c.267G>T (p.Arg89Ser) rs368073107
NM_001256545.2(MEGF10):c.2687C>A (p.Thr896Asn)
NM_001256545.2(MEGF10):c.2687C>T (p.Thr896Ile) rs1218321550
NM_001256545.2(MEGF10):c.268C>A (p.Arg90Ser)
NM_001256545.2(MEGF10):c.2704G>T (p.Val902Phe) rs138034219
NM_001256545.2(MEGF10):c.2707A>C (p.Asn903His) rs1580880504
NM_001256545.2(MEGF10):c.2743A>C (p.Ser915Arg) rs1387603431
NM_001256545.2(MEGF10):c.2747A>G (p.Asn916Ser)
NM_001256545.2(MEGF10):c.2785A>G (p.Ser929Gly)
NM_001256545.2(MEGF10):c.2812A>G (p.Thr938Ala)
NM_001256545.2(MEGF10):c.2821C>T (p.His941Tyr)
NM_001256545.2(MEGF10):c.2838C>A (p.Asp946Glu)
NM_001256545.2(MEGF10):c.2841G>C (p.Arg947Ser)
NM_001256545.2(MEGF10):c.2842A>C (p.Met948Leu) rs1209069765
NM_001256545.2(MEGF10):c.2852C>G (p.Thr951Arg) rs755639288
NM_001256545.2(MEGF10):c.2852C>T (p.Thr951Met) rs755639288
NM_001256545.2(MEGF10):c.2870A>G (p.Gln957Arg) rs1766057687
NM_001256545.2(MEGF10):c.2878G>A (p.Val960Met)
NM_001256545.2(MEGF10):c.2900C>T (p.Pro967Leu) rs1474577162
NM_001256545.2(MEGF10):c.2930C>T (p.Thr977Ile) rs1209092369
NM_001256545.2(MEGF10):c.2974G>A (p.Glu992Lys) rs753902803
NM_001256545.2(MEGF10):c.2979C>T (p.Leu993=)
NM_001256545.2(MEGF10):c.2998A>G (p.Arg1000Gly)
NM_001256545.2(MEGF10):c.3003C>G (p.Ser1001Arg) rs35159176
NM_001256545.2(MEGF10):c.3005A>G (p.Tyr1002Cys) rs566716623
NM_001256545.2(MEGF10):c.3034A>G (p.Lys1012Glu)
NM_001256545.2(MEGF10):c.3122C>T (p.Pro1041Leu)
NM_001256545.2(MEGF10):c.3151A>G (p.Met1051Val)
NM_001256545.2(MEGF10):c.3161C>T (p.Pro1054Leu)
NM_001256545.2(MEGF10):c.3172G>A (p.Asp1058Asn)
NM_001256545.2(MEGF10):c.3182A>G (p.Tyr1061Cys) rs2127046001
NM_001256545.2(MEGF10):c.3194A>G (p.Asn1065Ser) rs770189857
NM_001256545.2(MEGF10):c.3232+1G>A
NM_001256545.2(MEGF10):c.3239C>G (p.Thr1080Arg) rs1018024748
NM_001256545.2(MEGF10):c.3244A>C (p.Ser1082Arg)
NM_001256545.2(MEGF10):c.3245G>C (p.Ser1082Thr)
NM_001256545.2(MEGF10):c.3266G>A (p.Ser1089Asn)
NM_001256545.2(MEGF10):c.3322C>T (p.Pro1108Ser)
NM_001256545.2(MEGF10):c.3331T>C (p.Tyr1111His) rs1064795277
NM_001256545.2(MEGF10):c.3374A>G (p.Gln1125Arg)
NM_001256545.2(MEGF10):c.3387_3388delinsAA (p.Gly1130Ser) rs1766400841
NM_001256545.2(MEGF10):c.3392G>C (p.Ser1131Thr)
NM_001256545.2(MEGF10):c.3405C>A (p.Ser1135Arg) rs1766402692
NM_001256545.2(MEGF10):c.3422G>A (p.Ter1141=)
NM_001256545.2(MEGF10):c.344A>G (p.His115Arg)
NM_001256545.2(MEGF10):c.349C>T (p.Arg117Cys)
NM_001256545.2(MEGF10):c.3G>T (p.Met1Ile)
NM_001256545.2(MEGF10):c.424G>T (p.Asp142Tyr) rs779874582
NM_001256545.2(MEGF10):c.461G>T (p.Cys154Phe) rs1763921776
NM_001256545.2(MEGF10):c.470G>A (p.Gly157Glu)
NM_001256545.2(MEGF10):c.472G>A (p.Ala158Thr) rs1287636458
NM_001256545.2(MEGF10):c.476T>C (p.Leu159Pro) rs2126921767
NM_001256545.2(MEGF10):c.485C>G (p.Pro162Arg) rs2126921820
NM_001256545.2(MEGF10):c.493G>A (p.Gly165Arg)
NM_001256545.2(MEGF10):c.493G>C (p.Gly165Arg) rs765084824
NM_001256545.2(MEGF10):c.505T>G (p.Cys169Gly) rs1223549168
NM_001256545.2(MEGF10):c.513G>A (p.Ala171=)
NM_001256545.2(MEGF10):c.533G>T (p.Cys178Phe) rs2126922023
NM_001256545.2(MEGF10):c.542G>A (p.Arg181His) rs377547826
NM_001256545.2(MEGF10):c.542G>T (p.Arg181Leu)
NM_001256545.2(MEGF10):c.557C>G (p.Thr186Ser)
NM_001256545.2(MEGF10):c.568G>A (p.Asp190Asn) rs756704626
NM_001256545.2(MEGF10):c.572G>A (p.Cys191Tyr) rs1012722382
NM_001256545.2(MEGF10):c.578A>G (p.Gln193Arg)
NM_001256545.2(MEGF10):c.581G>A (p.Arg194Lys) rs1023202749
NM_001256545.2(MEGF10):c.622G>A (p.Gly208Arg)
NM_001256545.2(MEGF10):c.689A>G (p.His230Arg) rs776233986
NM_001256545.2(MEGF10):c.68C>A (p.Ala23Glu)
NM_001256545.2(MEGF10):c.690T>A (p.His230Gln)
NM_001256545.2(MEGF10):c.700T>A (p.Cys234Ser) rs1156618898
NM_001256545.2(MEGF10):c.706C>A (p.Gln236Lys)
NM_001256545.2(MEGF10):c.733G>A (p.Val245Met) rs755790851
NM_001256545.2(MEGF10):c.740A>G (p.His247Arg) rs767932327
NM_001256545.2(MEGF10):c.743A>G (p.His248Arg) rs1286512106
NM_001256545.2(MEGF10):c.769T>C (p.Ser257Pro) rs1482140533
NM_001256545.2(MEGF10):c.778A>C (p.Met260Leu) rs1764021167
NM_001256545.2(MEGF10):c.786A>G (p.Thr262=) rs893078096
NM_001256545.2(MEGF10):c.806C>T (p.Pro269Leu) rs1427203192
NM_001256545.2(MEGF10):c.814C>T (p.Arg272Cys) rs748380473
NM_001256545.2(MEGF10):c.815G>A (p.Arg272His)
NM_001256545.2(MEGF10):c.871G>A (p.Ala291Thr) rs893376574
NM_001256545.2(MEGF10):c.878C>T (p.Thr293Ile)
NM_001256545.2(MEGF10):c.88G>C (p.Asp30His) rs1761253902
NM_001256545.2(MEGF10):c.917G>C (p.Arg306Pro)
NM_001256545.2(MEGF10):c.926A>T (p.Asp309Val) rs1764508104
NM_001256545.2(MEGF10):c.944C>T (p.Thr315Ile) rs1727704535
NM_001256545.2(MEGF10):c.956T>C (p.Leu319Pro) rs991317565
NM_001256545.2(MEGF10):c.966G>C (p.Glu322Asp)
NM_001256545.2(MEGF10):c.980T>C (p.Val327Ala)
NM_001256850.1(TTN):c.19885+5G>A rs1064796629
NM_001256850.1(TTN):c.75630_75631delinsTT (p.Arg25211Cys) rs397517716
NM_001267550.2(TTN):c.100060G>C (p.Val33354Leu) rs879221791
NM_001267550.2(TTN):c.100133T>G (p.Leu33378Arg) rs1060500454
NM_001267550.2(TTN):c.100171+3G>A
NM_001267550.2(TTN):c.100172-3T>C rs1312922352
NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn) rs1060500553
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu) rs72648282
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.100436G>A (p.Ser33479Asn) rs1553501815
NM_001267550.2(TTN):c.10062del (p.Val3355fs) rs1553983844
NM_001267550.2(TTN):c.100779A>G (p.Ile33593Met)
NM_001267550.2(TTN):c.100786C>T (p.Pro33596Ser) rs927922351
NM_001267550.2(TTN):c.100787C>T (p.Pro33596Leu)
NM_001267550.2(TTN):c.100790A>G (p.Lys33597Arg)
NM_001267550.2(TTN):c.100796T>C (p.Leu33599Pro) rs775361062
NM_001267550.2(TTN):c.100800A>C (p.Glu33600Asp) rs1575299834
NM_001267550.2(TTN):c.100804A>G (p.Met33602Val) rs759368043
NM_001267550.2(TTN):c.100811C>T (p.Ala33604Val)
NM_001267550.2(TTN):c.100820C>T (p.Ala33607Val)
NM_001267550.2(TTN):c.100829G>T (p.Gly33610Val) rs373754986
NM_001267550.2(TTN):c.100832A>T (p.Glu33611Val) rs2154136906
NM_001267550.2(TTN):c.100850T>C (p.Ile33617Thr)
NM_001267550.2(TTN):c.100858A>C (p.Ser33620Arg) rs1553500669
NM_001267550.2(TTN):c.100880T>C (p.Ile33627Thr) rs1553500627
NM_001267550.2(TTN):c.100883C>T (p.Thr33628Ile) rs200085900
NM_001267550.2(TTN):c.100900G>T (p.Asp33634Tyr) rs1691138917
NM_001267550.2(TTN):c.100907T>C (p.Ile33636Thr)
NM_001267550.2(TTN):c.100919G>T (p.Gly33640Val)
NM_001267550.2(TTN):c.100921C>T (p.His33641Tyr) rs1357251504
NM_001267550.2(TTN):c.100923C>G (p.His33641Gln) rs1691127745
NM_001267550.2(TTN):c.100934T>C (p.Ile33645Thr)
NM_001267550.2(TTN):c.100957C>T (p.Leu33653Phe) rs1178063403
NM_001267550.2(TTN):c.100958T>C (p.Leu33653Pro) rs1691110010
NM_001267550.2(TTN):c.100970A>G (p.Asn33657Ser) rs769340667
NM_001267550.2(TTN):c.100973G>C (p.Gly33658Ala) rs2154136811
NM_001267550.2(TTN):c.100976T>C (p.Val33659Ala) rs2154136807
NM_001267550.2(TTN):c.100980G>C (p.Glu33660Asp) rs727503536
NM_001267550.2(TTN):c.101003T>C (p.Val33668Ala) rs372534712
NM_001267550.2(TTN):c.101008T>C (p.Cys33670Arg) rs1575296634
NM_001267550.2(TTN):c.101009G>A (p.Cys33670Tyr) rs749219080
NM_001267550.2(TTN):c.101045T>C (p.Val33682Ala)
NM_001267550.2(TTN):c.101047G>A (p.Glu33683Lys)
NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val) rs775824162
NM_001267550.2(TTN):c.101053G>A (p.Asp33685Asn) rs1575295828
NM_001267550.2(TTN):c.101055T>A (p.Asp33685Glu)
NM_001267550.2(TTN):c.101056G>A (p.Val33686Met)
NM_001267550.2(TTN):c.101060C>G (p.Ala33687Gly)
NM_001267550.2(TTN):c.101062G>T (p.Asp33688Tyr)
NM_001267550.2(TTN):c.101068C>G (p.Pro33690Ala)
NM_001267550.2(TTN):c.101075C>G (p.Pro33692Arg)
NM_001267550.2(TTN):c.101081G>A (p.Arg33694Lys) rs747732590
NM_001267550.2(TTN):c.101084G>A (p.Gly33695Glu) rs1553499879
NM_001267550.2(TTN):c.101090A>C (p.Lys33697Thr) rs1691033741
NM_001267550.2(TTN):c.101117T>C (p.Val33706Ala) rs1261733710
NM_001267550.2(TTN):c.10112C>T (p.Thr3371Ile) rs1060500429
NM_001267550.2(TTN):c.101130G>T (p.Trp33710Cys)
NM_001267550.2(TTN):c.101134G>A (p.Glu33712Lys)
NM_001267550.2(TTN):c.101136G>C (p.Glu33712Asp) rs1060503937
NM_001267550.2(TTN):c.101137C>T (p.Pro33713Ser)
NM_001267550.2(TTN):c.10114+1G>T rs2154339650
NM_001267550.2(TTN):c.10114+5G>T rs115985443
NM_001267550.2(TTN):c.101140G>C (p.Ala33714Pro)
NM_001267550.2(TTN):c.101146G>A (p.Asp33716Asn)
NM_001267550.2(TTN):c.10115-2A>G
NM_001267550.2(TTN):c.101153G>A (p.Gly33718Asp)
NM_001267550.2(TTN):c.101155A>T (p.Ser33719Cys) rs2154136682
NM_001267550.2(TTN):c.101174T>C (p.Ile33725Thr)
NM_001267550.2(TTN):c.101179G>C (p.Glu33727Gln)
NM_001267550.2(TTN):c.101184A>T (p.Lys33728Asn)
NM_001267550.2(TTN):c.101191A>G (p.Thr33731Ala) rs746383312
NM_001267550.2(TTN):c.101194A>G (p.Thr33732Ala) rs1690986189
NM_001267550.2(TTN):c.101200G>C (p.Glu33734Gln)
NM_001267550.2(TTN):c.101206T>G (p.Trp33736Gly) rs1690982138
NM_001267550.2(TTN):c.10122del (p.Val3375fs)
NM_001267550.2(TTN):c.101233A>G (p.Thr33745Ala)
NM_001267550.2(TTN):c.101233A>T (p.Thr33745Ser) rs1690964903
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro) rs1575292990
NM_001267550.2(TTN):c.101248A>T (p.Ile33750Phe) rs1690954165
NM_001267550.2(TTN):c.101252A>G (p.Asn33751Ser)
NM_001267550.2(TTN):c.101256_101258del (p.Leu33752del) rs1690948347
NM_001267550.2(TTN):c.101258T>C (p.Phe33753Ser)
NM_001267550.2(TTN):c.101291C>G (p.Ala33764Gly) rs773542514
NM_001267550.2(TTN):c.10129del (p.Trp3377fs) rs2088238871
NM_001267550.2(TTN):c.101305_101306delinsTC (p.Gly33769Ser)
NM_001267550.2(TTN):c.101306G>A (p.Gly33769Asp) rs1553499045
NM_001267550.2(TTN):c.101313C>T (p.Ser33771=) rs2154136571
NM_001267550.2(TTN):c.101323G>A (p.Glu33775Lys) rs1690927632
NM_001267550.2(TTN):c.101330C>T (p.Ser33777Leu)
NM_001267550.2(TTN):c.101339C>T (p.Thr33780Ile) rs2154136558
NM_001267550.2(TTN):c.101341A>G (p.Ile33781Val)
NM_001267550.2(TTN):c.101350G>C (p.Glu33784Gln)
NM_001267550.2(TTN):c.101354A>G (p.Asp33785Gly)
NM_001267550.2(TTN):c.101355T>A (p.Asp33785Glu)
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys) rs876658097
NM_001267550.2(TTN):c.101374T>C (p.Tyr33792His)
NM_001267550.2(TTN):c.101377G>A (p.Asp33793Asn)
NM_001267550.2(TTN):c.101405T>G (p.Val33802Gly)
NM_001267550.2(TTN):c.101417A>C (p.Lys33806Thr)
NM_001267550.2(TTN):c.101420C>T (p.Ala33807Val) rs1351679447
NM_001267550.2(TTN):c.101446T>C (p.Tyr33816His)
NM_001267550.2(TTN):c.101447A>T (p.Tyr33816Phe) rs2154136483
NM_001267550.2(TTN):c.10144A>T (p.Lys3382Ter)
NM_001267550.2(TTN):c.101472T>A (p.Asp33824Glu) rs1575290013
NM_001267550.2(TTN):c.101476G>C (p.Gly33826Arg)
NM_001267550.2(TTN):c.101479C>A (p.Arg33827Ser)
NM_001267550.2(TTN):c.101486A>T (p.Glu33829Val)
NM_001267550.2(TTN):c.101500C>T (p.His33834Tyr)
NM_001267550.2(TTN):c.101503C>A (p.Arg33835Ser) rs781516399
NM_001267550.2(TTN):c.101506_101508del (p.Cys33836del) rs1690847769
NM_001267550.2(TTN):c.101521T>C (p.Ser33841Pro)
NM_001267550.2(TTN):c.101528A>C (p.Lys33843Thr) rs1690840610
NM_001267550.2(TTN):c.101533T>A (p.Tyr33845Asn)
NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His) rs1227515280
NM_001267550.2(TTN):c.101538G>A (p.Met33846Ile) rs1690830241
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val) rs1690813389
NM_001267550.2(TTN):c.101573T>C (p.Val33858Ala) rs1172459056
NM_001267550.2(TTN):c.101576T>G (p.Leu33859Trp)
NM_001267550.2(TTN):c.101590A>G (p.Ile33864Val)
NM_001267550.2(TTN):c.101591T>C (p.Ile33864Thr)
NM_001267550.2(TTN):c.101613G>T (p.Arg33871Ser)
NM_001267550.2(TTN):c.101614C>A (p.His33872Asn) rs1690791818
NM_001267550.2(TTN):c.101629C>A (p.His33877Asn) rs1690786587
NM_001267550.2(TTN):c.101629C>T (p.His33877Tyr) rs1690786587
NM_001267550.2(TTN):c.101632C>T (p.Leu33878Phe)
NM_001267550.2(TTN):c.101635C>T (p.His33879Tyr)
NM_001267550.2(TTN):c.101645T>C (p.Phe33882Ser)
NM_001267550.2(TTN):c.101665G>C (p.Val33889Leu) rs34924609
NM_001267550.2(TTN):c.101675T>C (p.Phe33892Ser) rs1275405365
NM_001267550.2(TTN):c.101683A>G (p.Ile33895Val)
NM_001267550.2(TTN):c.101685A>G (p.Ile33895Met) rs2154136307
NM_001267550.2(TTN):c.101692C>T (p.Leu33898Phe) rs371930491
NM_001267550.2(TTN):c.101693T>C (p.Leu33898Pro) rs1575286611
NM_001267550.2(TTN):c.101696A>G (p.Asp33899Gly) rs794729560
NM_001267550.2(TTN):c.101706G>C (p.Glu33902Asp) rs1559042152
NM_001267550.2(TTN):c.101707C>G (p.Arg33903Gly) rs772574722
NM_001267550.2(TTN):c.101737G>A (p.Glu33913Lys)
NM_001267550.2(TTN):c.101747T>C (p.Ile33916Thr) rs2154136265
NM_001267550.2(TTN):c.101747T>G (p.Ile33916Ser)
NM_001267550.2(TTN):c.101754T>G (p.Ser33918Arg) rs952080555
NM_001267550.2(TTN):c.101761C>T (p.His33921Tyr)
NM_001267550.2(TTN):c.101766G>T (p.Gln33922His)
NM_001267550.2(TTN):c.101768T>C (p.Val33923Ala)
NM_001267550.2(TTN):c.101792A>G (p.His33931Arg)
NM_001267550.2(TTN):c.101804T>C (p.Ile33935Thr)
NM_001267550.2(TTN):c.101809C>A (p.His33937Asn)
NM_001267550.2(TTN):c.101830A>T (p.Asn33944Tyr)
NM_001267550.2(TTN):c.101831A>G (p.Asn33944Ser) rs2154136201
NM_001267550.2(TTN):c.101833A>G (p.Ile33945Val)
NM_001267550.2(TTN):c.101837T>C (p.Ile33946Thr)
NM_001267550.2(TTN):c.101845A>G (p.Thr33949Ala)
NM_001267550.2(TTN):c.10186_10192delinsATCATT (p.Glu3396fs) rs1553972275
NM_001267550.2(TTN):c.101870T>C (p.Ile33957Thr)
NM_001267550.2(TTN):c.101887G>A (p.Ala33963Thr)
NM_001267550.2(TTN):c.101888C>T (p.Ala33963Val) rs2154136158
NM_001267550.2(TTN):c.101902C>A (p.Pro33968Thr)
NM_001267550.2(TTN):c.101911A>C (p.Asn33971His) rs2154136145
NM_001267550.2(TTN):c.101912A>T (p.Asn33971Ile) rs1553497184
NM_001267550.2(TTN):c.101945A>G (p.Tyr33982Cys)
NM_001267550.2(TTN):c.101947_101948delinsAA (p.Ala33983Lys) rs1690652304
NM_001267550.2(TTN):c.101948C>T (p.Ala33983Val) rs1553497101
NM_001267550.2(TTN):c.101959C>T (p.His33987Tyr)
NM_001267550.2(TTN):c.101964G>C (p.Gln33988His)
NM_001267550.2(TTN):c.101971G>T (p.Val33991Phe)
NM_001267550.2(TTN):c.101972T>A (p.Val33991Asp)
NM_001267550.2(TTN):c.101978G>A (p.Ser33993Asn)
NM_001267550.2(TTN):c.101986A>G (p.Thr33996Ala) rs1690632346
NM_001267550.2(TTN):c.101993T>C (p.Met33998Thr) rs1559039438
NM_001267550.2(TTN):c.101997G>C (p.Trp33999Cys) rs764821435
NM_001267550.2(TTN):c.102002T>C (p.Leu34001Pro) rs2154136066
NM_001267550.2(TTN):c.102005G>A (p.Gly34002Glu)
NM_001267550.2(TTN):c.102013G>A (p.Val34005Ile) rs1690621219
NM_001267550.2(TTN):c.102038A>C (p.Asn34013Thr) rs1559038960
NM_001267550.2(TTN):c.102040C>T (p.Pro34014Ser)
NM_001267550.2(TTN):c.102041C>A (p.Pro34014Gln)
NM_001267550.2(TTN):c.102043T>C (p.Phe34015Leu)
NM_001267550.2(TTN):c.102067A>G (p.Ile34023Val)
NM_001267550.2(TTN):c.102071T>C (p.Ile34024Thr)
NM_001267550.2(TTN):c.102073G>A (p.Glu34025Lys)
NM_001267550.2(TTN):c.102085A>C (p.Asn34029His) rs1690593497
NM_001267550.2(TTN):c.102087T>A (p.Asn34029Lys) rs1690590871
NM_001267550.2(TTN):c.102094T>A (p.Tyr34032Asn)
NM_001267550.2(TTN):c.102106G>A (p.Glu34036Lys)
NM_001267550.2(TTN):c.102112G>A (p.Ala34038Thr) rs1690579265
NM_001267550.2(TTN):c.102115T>C (p.Phe34039Leu) rs1178807411
NM_001267550.2(TTN):c.102118A>G (p.Lys34040Glu)
NM_001267550.2(TTN):c.102129C>A (p.Ser34043Arg) rs2154135970
NM_001267550.2(TTN):c.102130A>C (p.Ile34044Leu) rs1690568887
NM_001267550.2(TTN):c.102130A>G (p.Ile34044Val)
NM_001267550.2(TTN):c.102140T>C (p.Met34047Thr) rs745563787
NM_001267550.2(TTN):c.102142G>T (p.Asp34048Tyr)
NM_001267550.2(TTN):c.102148G>A (p.Val34050Ile) rs1575280335
NM_001267550.2(TTN):c.102152A>T (p.Asp34051Val)
NM_001267550.2(TTN):c.102154C>T (p.Arg34052Trp) rs756924372
NM_001267550.2(TTN):c.102171G>C (p.Glu34057Asp)
NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro) rs1690528772
NM_001267550.2(TTN):c.102202C>T (p.Leu34068Phe) rs999356407
NM_001267550.2(TTN):c.102212C>G (p.Pro34071Arg)
NM_001267550.2(TTN):c.102221A>G (p.Lys34074Arg)
NM_001267550.2(TTN):c.102222G>C (p.Lys34074Asn)
NM_001267550.2(TTN):c.102230T>C (p.Ile34077Thr) rs1290306844
NM_001267550.2(TTN):c.102232_102233inv (p.Glu34078Ser)
NM_001267550.2(TTN):c.102234A>T (p.Glu34078Asp) rs1043486033
NM_001267550.2(TTN):c.102242G>C (p.Ser34081Thr) rs1690505739
NM_001267550.2(TTN):c.102245C>A (p.Thr34082Asn)
NM_001267550.2(TTN):c.102269A>C (p.His34090Pro)
NM_001267550.2(TTN):c.102280T>C (p.Tyr34094His)
NM_001267550.2(TTN):c.102281A>C (p.Tyr34094Ser)
NM_001267550.2(TTN):c.102293T>A (p.Ile34098Asn) rs1480810435
NM_001267550.2(TTN):c.102314T>A (p.Val34105Asp)
NM_001267550.2(TTN):c.102316G>C (p.Val34106Leu)
NM_001267550.2(TTN):c.102329G>C (p.Arg34110Pro) rs565347600
NM_001267550.2(TTN):c.102339T>G (p.Cys34113Trp) rs794729561
NM_001267550.2(TTN):c.102344G>A (p.Gly34115Asp) rs1342246182
NM_001267550.2(TTN):c.102365G>T (p.Gly34122Val)
NM_001267550.2(TTN):c.102371G>A (p.Ser34124Asn)
NM_001267550.2(TTN):c.102373G>A (p.Val34125Ile)
NM_001267550.2(TTN):c.102374T>C (p.Val34125Ala)
NM_001267550.2(TTN):c.102381A>C (p.Lys34127Asn)
NM_001267550.2(TTN):c.102403A>G (p.Ile34135Val)
NM_001267550.2(TTN):c.102404T>C (p.Ile34135Thr) rs917268577
NM_001267550.2(TTN):c.10241del (p.Tyr3414fs) rs2154336829
NM_001267550.2(TTN):c.102421C>A (p.Gln34141Lys)
NM_001267550.2(TTN):c.102423G>T (p.Gln34141His) rs1553495068
NM_001267550.2(TTN):c.102426A>G (p.Ile34142Met)
NM_001267550.2(TTN):c.102430C>T (p.His34144Tyr) rs560027565
NM_001267550.2(TTN):c.102431A>G (p.His34144Arg) rs1553495003
NM_001267550.2(TTN):c.102437T>C (p.Val34146Ala) rs1690411709
NM_001267550.2(TTN):c.102442G>A (p.Glu34148Lys) rs1372227820
NM_001267550.2(TTN):c.102445G>C (p.Glu34149Gln)
NM_001267550.2(TTN):c.102446A>C (p.Glu34149Ala)
NM_001267550.2(TTN):c.102448G>A (p.Gly34150Arg)
NM_001267550.2(TTN):c.102452G>A (p.Gly34151Glu)
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)
NM_001267550.2(TTN):c.102456T>A (p.His34152Gln) rs758384544
NM_001267550.2(TTN):c.102456T>G (p.His34152Gln)
NM_001267550.2(TTN):c.102458T>A (p.Val34153Asp) rs2154135691
NM_001267550.2(TTN):c.102464A>G (p.Tyr34155Cys)
NM_001267550.2(TTN):c.102469T>G (p.Cys34157Gly)
NM_001267550.2(TTN):c.102476T>C (p.Ile34159Thr) rs1690397017
NM_001267550.2(TTN):c.102481A>T (p.Asn34161Tyr)
NM_001267550.2(TTN):c.102488A>G (p.Asp34163Gly)
NM_001267550.2(TTN):c.102491A>G (p.Gln34164Arg)
NM_001267550.2(TTN):c.102502G>A (p.Val34168Met) rs2154135668
NM_001267550.2(TTN):c.102503T>C (p.Val34168Ala)
NM_001267550.2(TTN):c.102508T>G (p.Trp34170Gly) rs778786999
NM_001267550.2(TTN):c.102510G>C (p.Trp34170Cys) rs1559033550
NM_001267550.2(TTN):c.102512A>T (p.Tyr34171Phe)
NM_001267550.2(TTN):c.102529C>A (p.Leu34177Met)
NM_001267550.2(TTN):c.102538_102539inv (p.Ser34180Leu)
NM_001267550.2(TTN):c.102540T>A (p.Ser34180Arg)
NM_001267550.2(TTN):c.102541G>A (p.Glu34181Lys) rs1559033148
NM_001267550.2(TTN):c.102545A>C (p.Lys34182Thr) rs1348175807
NM_001267550.2(TTN):c.102551A>C (p.Glu34184Ala) rs920777916
NM_001267550.2(TTN):c.102554T>C (p.Ile34185Thr) rs1280013764
NM_001267550.2(TTN):c.102566A>T (p.Asp34189Val) rs2154135620
NM_001267550.2(TTN):c.102575C>T (p.Ala34192Val) rs1690350047
NM_001267550.2(TTN):c.102591A>C (p.Lys34197Asn)
NM_001267550.2(TTN):c.102592G>A (p.Asp34198Asn) rs948836784
NM_001267550.2(TTN):c.102607G>C (p.Asp34203His) rs1189437049
NM_001267550.2(TTN):c.102607_102615del (p.Asp34203_Gly34205del) rs1559032218
NM_001267550.2(TTN):c.102610G>A (p.Asp34204Asn)
NM_001267550.2(TTN):c.102612T>A (p.Asp34204Glu) rs2154135586
NM_001267550.2(TTN):c.102626G>A (p.Cys34209Tyr) rs2154135569
NM_001267550.2(TTN):c.102628A>G (p.Lys34210Glu) rs1690321634
NM_001267550.2(TTN):c.102632T>C (p.Val34211Ala) rs2154135563
NM_001267550.2(TTN):c.102642C>G (p.Asp34214Glu) rs766760792
NM_001267550.2(TTN):c.102646G>A (p.Gly34216Ser)
NM_001267550.2(TTN):c.102646G>T (p.Gly34216Cys)
NM_001267550.2(TTN):c.102659C>T (p.Ser34220Phe)
NM_001267550.2(TTN):c.102670C>A (p.Leu34224Ile)
NM_001267550.2(TTN):c.102674T>C (p.Phe34225Ser)
NM_001267550.2(TTN):c.102676G>C (p.Val34226Leu)
NM_001267550.2(TTN):c.102694G>C (p.Val34232Leu) rs2154135535
NM_001267550.2(TTN):c.10270C>T (p.Gln3424Ter)
NM_001267550.2(TTN):c.102721A>G (p.Met34241Val) rs1690291255
NM_001267550.2(TTN):c.102725A>C (p.Lys34242Thr) rs1553493858
NM_001267550.2(TTN):c.102725A>G (p.Lys34242Arg) rs1553493858
NM_001267550.2(TTN):c.102743C>T (p.Thr34248Ile)
NM_001267550.2(TTN):c.102745G>C (p.Asp34249His) rs1575271973
NM_001267550.2(TTN):c.102749C>A (p.Thr34250Lys) rs1575271907
NM_001267550.2(TTN):c.102752T>C (p.Met34251Thr) rs750864230
NM_001267550.2(TTN):c.102772C>T (p.Pro34258Ser) rs752360286
NM_001267550.2(TTN):c.102794A>G (p.Tyr34265Cys) rs1559030437
NM_001267550.2(TTN):c.102797A>G (p.Asn34266Ser)
NM_001267550.2(TTN):c.102800A>T (p.Lys34267Met)
NM_001267550.2(TTN):c.102803C>G (p.Thr34268Arg)
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) rs794727542
NM_001267550.2(TTN):c.102811G>T (p.Val34271Leu) rs794727542
NM_001267550.2(TTN):c.102815G>A (p.Gly34272Asp)
NM_001267550.2(TTN):c.102841A>C (p.Ile34281Leu) rs758945559
NM_001267550.2(TTN):c.102853C>T (p.Pro34285Ser)
NM_001267550.2(TTN):c.10285_10288dup (p.Asn3430fs) rs2088191243
NM_001267550.2(TTN):c.102874T>C (p.Tyr34292His)
NM_001267550.2(TTN):c.102890A>C (p.Lys34297Thr) rs1559029083
NM_001267550.2(TTN):c.102891A>C (p.Lys34297Asn) rs1019464699
NM_001267550.2(TTN):c.102893T>C (p.Ile34298Thr) rs1690192341
NM_001267550.2(TTN):c.102911A>G (p.Asp34304Gly)
NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del) rs762798421
NM_001267550.2(TTN):c.102917A>G (p.Lys34306Arg) rs2154135329
NM_001267550.2(TTN):c.102919T>A (p.Tyr34307Asn)
NM_001267550.2(TTN):c.102926T>C (p.Phe34309Ser)
NM_001267550.2(TTN):c.102934G>A (p.Asp34312Asn) rs1690170603
NM_001267550.2(TTN):c.102938A>C (p.Lys34313Thr)
NM_001267550.2(TTN):c.102938A>G (p.Lys34313Arg) rs1027988280
NM_001267550.2(TTN):c.102940G>T (p.Gly34314Cys)
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del) rs878854378
NM_001267550.2(TTN):c.102982G>T (p.Asp34328Tyr)
NM_001267550.2(TTN):c.102986C>T (p.Ala34329Val)
NM_001267550.2(TTN):c.102994A>G (p.Thr34332Ala)
NM_001267550.2(TTN):c.102997G>A (p.Val34333Ile) rs763815899
NM_001267550.2(TTN):c.103000G>A (p.Val34334Met)
NM_001267550.2(TTN):c.103015T>C (p.Tyr34339His)
NM_001267550.2(TTN):c.103018G>A (p.Gly34340Ser)
NM_001267550.2(TTN):c.103018G>T (p.Gly34340Cys)
NM_001267550.2(TTN):c.103019G>A (p.Gly34340Asp)
NM_001267550.2(TTN):c.103026C>G (p.Asp34342Glu) rs1690121378
NM_001267550.2(TTN):c.103048G>A (p.Val34350Ile) rs2154135237
NM_001267550.2(TTN):c.103052C>T (p.Thr34351Ile) rs772319019
NM_001267550.2(TTN):c.103059C>A (p.His34353Gln) rs2154135228
NM_001267550.2(TTN):c.103060C>A (p.Pro34354Thr)
NM_001267550.2(TTN):c.103066C>T (p.Pro34356Ser)
NM_001267550.2(TTN):c.103072G>T (p.Asp34358Tyr) rs1690109376
NM_001267550.2(TTN):c.103076G>C (p.Ser34359Thr)
NM_001267550.2(TTN):c.103084A>G (p.Arg34362Gly)
NM_001267550.2(TTN):c.103091T>C (p.Met34364Thr) rs1057273567
NM_001267550.2(TTN):c.103126G>A (p.Glu34376Lys)
NM_001267550.2(TTN):c.103133A>C (p.Gln34378Pro) rs779618819
NM_001267550.2(TTN):c.103137T>A (p.Ser34379Arg)
NM_001267550.2(TTN):c.103138G>C (p.Val34380Leu)
NM_001267550.2(TTN):c.103145T>C (p.Phe34382Ser) rs2154135165
NM_001267550.2(TTN):c.103151T>A (p.Ile34384Asn)
NM_001267550.2(TTN):c.103156G>A (p.Val34386Met)
NM_001267550.2(TTN):c.103156G>C (p.Val34386Leu)
NM_001267550.2(TTN):c.103159T>C (p.Ser34387Pro)
NM_001267550.2(TTN):c.103166T>A (p.Ile34389Asn) rs1575265105
NM_001267550.2(TTN):c.103172C>A (p.Pro34391Gln) rs775343253
NM_001267550.2(TTN):c.103172C>T (p.Pro34391Leu)
NM_001267550.2(TTN):c.103183A>C (p.Lys34395Gln) rs368320079
NM_001267550.2(TTN):c.103204C>T (p.Pro34402Ser) rs1361480669
NM_001267550.2(TTN):c.103220C>A (p.Pro34407His)
NM_001267550.2(TTN):c.103226T>C (p.Ile34409Thr) rs879013405
NM_001267550.2(TTN):c.103231A>C (p.Ile34411Leu)
NM_001267550.2(TTN):c.103232T>A (p.Ile34411Asn)
NM_001267550.2(TTN):c.103243G>C (p.Gly34415Arg) rs1170678153
NM_001267550.2(TTN):c.103271G>T (p.Arg34424Met)
NM_001267550.2(TTN):c.103276A>G (p.Thr34426Ala)
NM_001267550.2(TTN):c.103280T>C (p.Leu34427Ser)
NM_001267550.2(TTN):c.103292C>G (p.Thr34431Arg) rs192001910
NM_001267550.2(TTN):c.103309A>G (p.Thr34437Ala)
NM_001267550.2(TTN):c.103340G>A (p.Cys34447Tyr) rs770558110
NM_001267550.2(TTN):c.103351C>G (p.Leu34451Val) rs1559023612
NM_001267550.2(TTN):c.103352T>C (p.Leu34451Pro) rs2154135007
NM_001267550.2(TTN):c.103363C>A (p.Arg34455Ser) rs72629785
NM_001267550.2(TTN):c.103370G>A (p.Arg34457Lys)
NM_001267550.2(TTN):c.103373A>G (p.Tyr34458Cys)
NM_001267550.2(TTN):c.103376A>C (p.Lys34459Thr)
NM_001267550.2(TTN):c.103382A>T (p.Gln34461Leu)
NM_001267550.2(TTN):c.103390A>G (p.Lys34464Glu)
NM_001267550.2(TTN):c.103409A>T (p.Glu34470Val) rs1553491559
NM_001267550.2(TTN):c.103423A>G (p.Lys34475Glu)
NM_001267550.2(TTN):c.103436A>G (p.Lys34479Arg) rs747582398
NM_001267550.2(TTN):c.103439C>A (p.Thr34480Asn)
NM_001267550.2(TTN):c.103439C>T (p.Thr34480Ile)
NM_001267550.2(TTN):c.103441C>T (p.Leu34481Phe) rs1689951104
NM_001267550.2(TTN):c.103445G>T (p.Arg34482Ile) rs1689948996
NM_001267550.2(TTN):c.103449G>C (p.Met34483Ile) rs1470149812
NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro) rs754949098
NM_001267550.2(TTN):c.103451C>T (p.Ala34484Val)
NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp) rs746863482
NM_001267550.2(TTN):c.103457T>C (p.Ile34486Thr) rs2154134918
NM_001267550.2(TTN):c.103476T>A (p.Ser34492Arg) rs878854283
NM_001267550.2(TTN):c.103477G>A (p.Val34493Ile) rs1166346683
NM_001267550.2(TTN):c.103478T>C (p.Val34493Ala) rs1553491321
NM_001267550.2(TTN):c.103492G>T (p.Val34498Leu)
NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter) rs1574929972
NM_001267550.2(TTN):c.103502A>C (p.Glu34501Ala) rs1369317965
NM_001267550.2(TTN):c.103505C>A (p.Ala34502Asp)
NM_001267550.2(TTN):c.103523T>C (p.Val34508Ala)
NM_001267550.2(TTN):c.103537G>C (p.Ala34513Pro)
NM_001267550.2(TTN):c.103540G>T (p.Val34514Leu) rs769311670
NM_001267550.2(TTN):c.103543A>T (p.Ser34515Cys)
NM_001267550.2(TTN):c.103549A>C (p.Lys34517Gln)
NM_001267550.2(TTN):c.103564G>A (p.Glu34522Lys) rs1689887445
NM_001267550.2(TTN):c.103579A>C (p.Ile34527Leu) rs1689876003
NM_001267550.2(TTN):c.103582G>A (p.Glu34528Lys) rs2154134838
NM_001267550.2(TTN):c.103582G>C (p.Glu34528Gln)
NM_001267550.2(TTN):c.103597G>C (p.Glu34533Gln)
NM_001267550.2(TTN):c.103598A>G (p.Glu34533Gly) rs1484143627
NM_001267550.2(TTN):c.103612A>T (p.Met34538Leu) rs376233324
NM_001267550.2(TTN):c.103615C>T (p.Pro34539Ser)
NM_001267550.2(TTN):c.103623T>G (p.Asp34541Glu) rs1559020199
NM_001267550.2(TTN):c.103628C>T (p.Pro34543Leu) rs1575257488
NM_001267550.2(TTN):c.103641G>T (p.Lys34547Asn) rs2154134776
NM_001267550.2(TTN):c.103648C>G (p.Gln34550Glu)
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del) rs759860918
NM_001267550.2(TTN):c.103662A>C (p.Glu34554Asp)
NM_001267550.2(TTN):c.103663G>A (p.Glu34555Lys)
NM_001267550.2(TTN):c.103665A>C (p.Glu34555Asp)
NM_001267550.2(TTN):c.103694T>C (p.Met34565Thr)
NM_001267550.2(TTN):c.103696T>A (p.Ser34566Thr)
NM_001267550.2(TTN):c.103696T>G (p.Ser34566Ala) rs556060586
NM_001267550.2(TTN):c.103699G>T (p.Asp34567Tyr)
NM_001267550.2(TTN):c.103702A>G (p.Met34568Val)
NM_001267550.2(TTN):c.103703T>C (p.Met34568Thr) rs1350583693
NM_001267550.2(TTN):c.103721T>G (p.Ile34574Arg) rs2154134707
NM_001267550.2(TTN):c.103723C>A (p.Arg34575Ser) rs190866742
NM_001267550.2(TTN):c.103726G>C (p.Asp34576His)
NM_001267550.2(TTN):c.103730A>T (p.Gln34577Leu)
NM_001267550.2(TTN):c.103736A>C (p.Glu34579Ala) rs1386348360
NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg) rs775137392
NM_001267550.2(TTN):c.103742C>G (p.Pro34581Arg) rs1357155692
NM_001267550.2(TTN):c.103750C>T (p.Leu34584Phe) rs1559018367
NM_001267550.2(TTN):c.103759G>A (p.Val34587Ile) rs1188944324
NM_001267550.2(TTN):c.103774C>A (p.Pro34592Thr) rs748291093
NM_001267550.2(TTN):c.103774C>T (p.Pro34592Ser) rs748291093
NM_001267550.2(TTN):c.103777A>C (p.Lys34593Gln) rs1689768170
NM_001267550.2(TTN):c.103796G>C (p.Arg34599Thr) rs1362778188
NM_001267550.2(TTN):c.103801G>A (p.Glu34601Lys)
NM_001267550.2(TTN):c.103818G>A (p.Met34606Ile)
NM_001267550.2(TTN):c.10381dup (p.Leu3461fs)
NM_001267550.2(TTN):c.103829G>T (p.Arg34610Leu)
NM_001267550.2(TTN):c.103831A>G (p.Ile34611Val)
NM_001267550.2(TTN):c.103840C>G (p.Gln34614Glu) rs2154134587
NM_001267550.2(TTN):c.103865C>T (p.Pro34622Leu) rs762716728
NM_001267550.2(TTN):c.103879G>C (p.Asp34627His)
NM_001267550.2(TTN):c.103882G>T (p.Asp34628Tyr) rs1553490035
NM_001267550.2(TTN):c.103888G>A (p.Glu34630Lys)
NM_001267550.2(TTN):c.103892T>C (p.Ile34631Thr) rs776709904
NM_001267550.2(TTN):c.103892T>G (p.Ile34631Arg) rs776709904
NM_001267550.2(TTN):c.103897A>G (p.Arg34633Gly)
NM_001267550.2(TTN):c.103901C>T (p.Pro34634Leu)
NM_001267550.2(TTN):c.103919C>T (p.Pro34640Leu) rs2154134518
NM_001267550.2(TTN):c.10391A>C (p.Lys3464Thr) rs1553970272
NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del) rs774574734
NM_001267550.2(TTN):c.103931A>C (p.Tyr34644Ser)
NM_001267550.2(TTN):c.103933G>A (p.Asp34645Asn)
NM_001267550.2(TTN):c.103936T>C (p.Phe34646Leu)
NM_001267550.2(TTN):c.103948C>A (p.Pro34650Thr) rs879134298
NM_001267550.2(TTN):c.103957C>A (p.Arg34653Ser) rs773002407
NM_001267550.2(TTN):c.103958G>T (p.Arg34653Leu) rs72629786
NM_001267550.2(TTN):c.10395del (p.Ser3466fs) rs2087781053
NM_001267550.2(TTN):c.103961C>T (p.Ser34654Phe) rs1689685184
NM_001267550.2(TTN):c.103963C>T (p.Leu34655Phe)
NM_001267550.2(TTN):c.103964T>C (p.Leu34655Pro)
NM_001267550.2(TTN):c.103973T>C (p.Ile34658Thr) rs1689681272
NM_001267550.2(TTN):c.103999A>G (p.Ile34667Val) rs749651526
NM_001267550.2(TTN):c.1039C>T (p.Gln347Ter) rs1561470471
NM_001267550.2(TTN):c.104006A>C (p.Asp34669Ala)
NM_001267550.2(TTN):c.104024G>A (p.Arg34675Lys) rs765125364
NM_001267550.2(TTN):c.104024G>C (p.Arg34675Thr)
NM_001267550.2(TTN):c.104031G>C (p.Glu34677Asp) rs2154134425
NM_001267550.2(TTN):c.104039G>A (p.Arg34680Lys) rs753652745
NM_001267550.2(TTN):c.104040G>C (p.Arg34680Ser)
NM_001267550.2(TTN):c.104052AGA[1] (p.Glu34686del) rs1689633500
NM_001267550.2(TTN):c.104059C>A (p.Leu34687Ile) rs1575250160
NM_001267550.2(TTN):c.104060T>G (p.Leu34687Arg) rs2154134402
NM_001267550.2(TTN):c.104063A>G (p.Glu34688Gly)
NM_001267550.2(TTN):c.104069G>T (p.Gly34690Val) rs964554853
NM_001267550.2(TTN):c.104080T>C (p.Ser34694Pro) rs768203673
NM_001267550.2(TTN):c.104080T>G (p.Ser34694Ala) rs768203673
NM_001267550.2(TTN):c.104090G>C (p.Ser34697Thr)
NM_001267550.2(TTN):c.104098C>A (p.Pro34700Thr) rs778877604
NM_001267550.2(TTN):c.104098C>T (p.Pro34700Ser) rs778877604
NM_001267550.2(TTN):c.104099C>G (p.Pro34700Arg)
NM_001267550.2(TTN):c.104104C>G (p.His34702Asp)
NM_001267550.2(TTN):c.104113C>A (p.Leu34705Ile)
NM_001267550.2(TTN):c.104113C>T (p.Leu34705Phe)
NM_001267550.2(TTN):c.104119A>G (p.Ser34707Gly)
NM_001267550.2(TTN):c.104128T>C (p.Tyr34710His)
NM_001267550.2(TTN):c.104144C>T (p.Ala34715Val)
NM_001267550.2(TTN):c.104147A>G (p.His34716Arg)
NM_001267550.2(TTN):c.104155G>A (p.Val34719Met)
NM_001267550.2(TTN):c.104159A>T (p.Glu34720Val)
NM_001267550.2(TTN):c.10415C>G (p.Ser3472Ter)
NM_001267550.2(TTN):c.104161G>A (p.Glu34721Lys) rs1689557329
NM_001267550.2(TTN):c.104162A>C (p.Glu34721Ala)
NM_001267550.2(TTN):c.104174A>C (p.Asp34725Ala) rs771698375
NM_001267550.2(TTN):c.104174A>G (p.Asp34725Gly)
NM_001267550.2(TTN):c.104181G>T (p.Arg34727Ser)
NM_001267550.2(TTN):c.104188A>G (p.Thr34730Ala) rs949998241
NM_001267550.2(TTN):c.104200C>T (p.Pro34734Ser)
NM_001267550.2(TTN):c.104203A>G (p.Thr34735Ala) rs1451123812
NM_001267550.2(TTN):c.104204C>G (p.Thr34735Arg) rs755986938
NM_001267550.2(TTN):c.104209G>A (p.Ala34737Thr)
NM_001267550.2(TTN):c.104215G>C (p.Ala34739Pro) rs796476794
NM_001267550.2(TTN):c.104216C>G (p.Ala34739Gly)
NM_001267550.2(TTN):c.104221A>G (p.Thr34741Ala) rs2154134261
NM_001267550.2(TTN):c.104225G>A (p.Ser34742Asn) rs765636638
NM_001267550.2(TTN):c.104225G>T (p.Ser34742Ile)
NM_001267550.2(TTN):c.104237_104245del (p.Leu34746_Glu34748del) rs1689509779
NM_001267550.2(TTN):c.104258C>T (p.Ala34753Val) rs770515852
NM_001267550.2(TTN):c.104263T>A (p.Tyr34755Asn) rs1553488819
NM_001267550.2(TTN):c.104290A>G (p.Ile34764Val)
NM_001267550.2(TTN):c.104294T>C (p.Met34765Thr)
NM_001267550.2(TTN):c.104306A>T (p.Glu34769Val) rs2154134195
NM_001267550.2(TTN):c.104311G>A (p.Glu34771Lys) rs2154134190
NM_001267550.2(TTN):c.104318T>C (p.Leu34773Ser)
NM_001267550.2(TTN):c.104323C>T (p.Arg34775Cys)
NM_001267550.2(TTN):c.104327C>T (p.Pro34776Leu)
NM_001267550.2(TTN):c.104332A>G (p.Thr34778Ala) rs765838260
NM_001267550.2(TTN):c.104343G>C (p.Gln34781His)
NM_001267550.2(TTN):c.104357A>G (p.Tyr34786Cys) rs1689457386
NM_001267550.2(TTN):c.104365G>C (p.Glu34789Gln) rs190565627
NM_001267550.2(TTN):c.104369T>C (p.Leu34790Pro)
NM_001267550.2(TTN):c.104381C>T (p.Ser34794Leu) rs1302011604
NM_001267550.2(TTN):c.104390A>C (p.Glu34797Ala)
NM_001267550.2(TTN):c.104405A>T (p.Lys34802Ile) rs1689437836
NM_001267550.2(TTN):c.104413C>G (p.Arg34805Gly)
NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro) rs115150240
NM_001267550.2(TTN):c.104417A>C (p.Gln34806Pro)
NM_001267550.2(TTN):c.104420G>A (p.Arg34807Lys) rs973111888
NM_001267550.2(TTN):c.104421A>C (p.Arg34807Ser) rs2154134105
NM_001267550.2(TTN):c.104422G>A (p.Glu34808Lys)
NM_001267550.2(TTN):c.104434A>G (p.Ile34812Val) rs1245438198
NM_001267550.2(TTN):c.104438C>A (p.Thr34813Lys)
NM_001267550.2(TTN):c.104447A>G (p.Glu34816Gly)
NM_001267550.2(TTN):c.104448_104450dup (p.Glu34818_Tyr34819insGlu)
NM_001267550.2(TTN):c.104449G>A (p.Glu34817Lys) rs1553488312
NM_001267550.2(TTN):c.104449GAA[1] (p.Glu34818del) rs780929362
NM_001267550.2(TTN):c.10444G>A (p.Val3482Ile) rs1553970119
NM_001267550.2(TTN):c.104450A>G (p.Glu34817Gly)
NM_001267550.2(TTN):c.104455T>C (p.Tyr34819His) rs1553488294
NM_001267550.2(TTN):c.104474C>G (p.Ala34825Gly) rs766157074
NM_001267550.2(TTN):c.104477A>G (p.Gln34826Arg) rs2154134073
NM_001267550.2(TTN):c.104483A>G (p.Glu34828Gly) rs975412383
NM_001267550.2(TTN):c.104498C>G (p.Ala34833Gly)
NM_001267550.2(TTN):c.104498C>T (p.Ala34833Val) rs1164350939
NM_001267550.2(TTN):c.104501C>G (p.Ser34834Cys)
NM_001267550.2(TTN):c.104503A>G (p.Arg34835Gly) rs938452034
NM_001267550.2(TTN):c.104504G>C (p.Arg34835Thr) rs2154134050
NM_001267550.2(TTN):c.104509C>G (p.Leu34837Val)
NM_001267550.2(TTN):c.104513G>A (p.Arg34838Lys)
NM_001267550.2(TTN):c.104531C>T (p.Ser34844Phe)
NM_001267550.2(TTN):c.104545G>A (p.Glu34849Lys)
NM_001267550.2(TTN):c.104546A>C (p.Glu34849Ala) rs1553487855
NM_001267550.2(TTN):c.104584C>T (p.Pro34862Ser) rs2154133959
NM_001267550.2(TTN):c.104599G>A (p.Glu34867Lys) rs1689335929
NM_001267550.2(TTN):c.104623A>G (p.Arg34875Gly) rs377594642
NM_001267550.2(TTN):c.104624G>A (p.Arg34875Lys)
NM_001267550.2(TTN):c.104638G>A (p.Glu34880Lys) rs1404462483
NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln) rs1404462483
NM_001267550.2(TTN):c.104647C>T (p.Arg34883Cys) rs1003158162
NM_001267550.2(TTN):c.104657C>T (p.Ser34886Phe)
NM_001267550.2(TTN):c.104659C>T (p.Pro34887Ser) rs1689308742
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) rs774131659
NM_001267550.2(TTN):c.104664C>G (p.Ser34888Arg) rs1365150853
NM_001267550.2(TTN):c.104668G>C (p.Val34890Leu)
NM_001267550.2(TTN):c.104671T>A (p.Ser34891Thr)
NM_001267550.2(TTN):c.104675G>A (p.Ser34892Asn)
NM_001267550.2(TTN):c.104680A>G (p.Arg34894Gly)
NM_001267550.2(TTN):c.104693G>C (p.Arg34898Thr)
NM_001267550.2(TTN):c.104699A>T (p.Glu34900Val)
NM_001267550.2(TTN):c.104702G>A (p.Arg34901Lys) rs1689282112
NM_001267550.2(TTN):c.104711G>T (p.Arg34904Ile) rs780506196
NM_001267550.2(TTN):c.104712A>T (p.Arg34904Ser)
NM_001267550.2(TTN):c.104713T>C (p.Phe34905Leu) rs2154133865
NM_001267550.2(TTN):c.104717A>G (p.Asp34906Gly)
NM_001267550.2(TTN):c.104717A>T (p.Asp34906Val)
NM_001267550.2(TTN):c.104720T>C (p.Ile34907Thr)
NM_001267550.2(TTN):c.104726C>T (p.Ser34909Phe) rs755637336
NM_001267550.2(TTN):c.104731T>C (p.Tyr34911His)
NM_001267550.2(TTN):c.104738C>T (p.Ser34913Phe) rs2154133838
NM_001267550.2(TTN):c.104746G>A (p.Ala34916Thr)
NM_001267550.2(TTN):c.104747C>T (p.Ala34916Val)
NM_001267550.2(TTN):c.104758A>C (p.Thr34920Pro)
NM_001267550.2(TTN):c.104767A>T (p.Thr34923Ser) rs1689239806
NM_001267550.2(TTN):c.104776A>T (p.Arg34926Trp)
NM_001267550.2(TTN):c.104783A>G (p.Tyr34928Cys) rs1470980085
NM_001267550.2(TTN):c.104792T>G (p.Leu34931Trp)
NM_001267550.2(TTN):c.104794A>G (p.Ser34932Gly)
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg) rs794729566
NM_001267550.2(TTN):c.104800C>A (p.Gln34934Lys)
NM_001267550.2(TTN):c.104804C>T (p.Pro34935Leu)
NM_001267550.2(TTN):c.104815G>C (p.Asp34939His) rs752164427
NM_001267550.2(TTN):c.104830A>G (p.Ile34944Val)
NM_001267550.2(TTN):c.104837T>A (p.Leu34946Gln)
NM_001267550.2(TTN):c.104837T>G (p.Leu34946Arg) rs1185207035
NM_001267550.2(TTN):c.104846G>A (p.Arg34949His)
NM_001267550.2(TTN):c.104854A>G (p.Arg34952Gly)
NM_001267550.2(TTN):c.104857G>A (p.Val34953Ile) rs776593972
NM_001267550.2(TTN):c.104857G>T (p.Val34953Leu)
NM_001267550.2(TTN):c.104860C>T (p.Pro34954Ser)
NM_001267550.2(TTN):c.104861C>T (p.Pro34954Leu) rs1689198573
NM_001267550.2(TTN):c.104863T>G (p.Cys34955Gly)
NM_001267550.2(TTN):c.104865T>G (p.Cys34955Trp)
NM_001267550.2(TTN):c.104876C>A (p.Thr34959Lys)
NM_001267550.2(TTN):c.104883T>G (p.Phe34961Leu) rs934181908
NM_001267550.2(TTN):c.104888T>C (p.Leu34963Ser)
NM_001267550.2(TTN):c.104893G>A (p.Val34965Ile)
NM_001267550.2(TTN):c.104904G>C (p.Lys34968Asn) rs1274496471
NM_001267550.2(TTN):c.104906C>G (p.Pro34969Arg) rs2154133728
NM_001267550.2(TTN):c.104922A>C (p.Lys34974Asn)
NM_001267550.2(TTN):c.104923T>C (p.Trp34975Arg)
NM_001267550.2(TTN):c.104929_104931del (p.His34977del) rs1689167981
NM_001267550.2(TTN):c.104932A>G (p.Asn34978Asp)
NM_001267550.2(TTN):c.104945T>C (p.Leu34982Pro)
NM_001267550.2(TTN):c.104949A>C (p.Gln34983His)
NM_001267550.2(TTN):c.104954G>A (p.Ser34985Asn) rs1689156700
NM_001267550.2(TTN):c.104966A>G (p.His34989Arg)
NM_001267550.2(TTN):c.104968T>C (p.Tyr34990His)
NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala) rs764200285
NM_001267550.2(TTN):c.104972C>T (p.Thr34991Ile)
NM_001267550.2(TTN):c.104986G>A (p.Val34996Ile)
NM_001267550.2(TTN):c.104987T>C (p.Val34996Ala) rs2154133672
NM_001267550.2(TTN):c.104993C>T (p.Thr34998Ile) rs397517794
NM_001267550.2(TTN):c.105000A>T (p.Glu35000Asp) rs866303280
NM_001267550.2(TTN):c.105017C>T (p.Thr35006Ile) rs2154133648
NM_001267550.2(TTN):c.10504C>T (p.Gln3502Ter) rs1411783753
NM_001267550.2(TTN):c.105063C>T (p.Gly35021=)
NM_001267550.2(TTN):c.105074A>C (p.Asp35025Ala)
NM_001267550.2(TTN):c.105077A>G (p.Tyr35026Cys)
NM_001267550.2(TTN):c.105088G>A (p.Asp35030Asn)
NM_001267550.2(TTN):c.105091G>C (p.Val35031Leu)
NM_001267550.2(TTN):c.105103G>T (p.Asp35035Tyr) rs794729567
NM_001267550.2(TTN):c.105113C>T (p.Thr35038Ile)
NM_001267550.2(TTN):c.105130A>G (p.Arg35044Gly)
NM_001267550.2(TTN):c.105133G>C (p.Asp35045His)
NM_001267550.2(TTN):c.105138_105164del (p.Glu35047_Glu35055del)
NM_001267550.2(TTN):c.105142G>A (p.Val35048Ile) rs1689087953
NM_001267550.2(TTN):c.105145C>A (p.Pro35049Thr) rs2154133549
NM_001267550.2(TTN):c.105151T>G (p.Ser35051Ala)
NM_001267550.2(TTN):c.105152C>T (p.Ser35051Phe)
NM_001267550.2(TTN):c.105154G>C (p.Val35052Leu) rs751583336
NM_001267550.2(TTN):c.105166C>G (p.Leu35056Val)
NM_001267550.2(TTN):c.105174A>T (p.Arg35058Ser)
NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105180_105181delinsCA (p.Glu35060_Ala35061delinsAspThr) rs1689075044
NM_001267550.2(TTN):c.105182C>A (p.Ala35061Glu) rs762136167
NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser) rs1689071281
NM_001267550.2(TTN):c.105187G>A (p.Ala35063Thr) rs1558998039
NM_001267550.2(TTN):c.105197C>T (p.Ser35066Leu) rs1346086554
NM_001267550.2(TTN):c.105200T>C (p.Phe35067Ser)
NM_001267550.2(TTN):c.105203A>T (p.Lys35068Met)
NM_001267550.2(TTN):c.105209C>T (p.Thr35070Ile)
NM_001267550.2(TTN):c.105214G>C (p.Glu35072Gln) rs2154133487
NM_001267550.2(TTN):c.105220G>C (p.Glu35074Gln)
NM_001267550.2(TTN):c.105224C>T (p.Ala35075Val)
NM_001267550.2(TTN):c.105235G>A (p.Val35079Ile) rs751678775
NM_001267550.2(TTN):c.105241G>C (p.Glu35081Gln)
NM_001267550.2(TTN):c.10525A>T (p.Lys3509Ter) rs2154336016
NM_001267550.2(TTN):c.105266C>T (p.Thr35089Ile)
NM_001267550.2(TTN):c.105275G>A (p.Ser35092Asn) rs1689031111
NM_001267550.2(TTN):c.105286T>A (p.Tyr35096Asn)
NM_001267550.2(TTN):c.105291A>T (p.Glu35097Asp)
NM_001267550.2(TTN):c.105292C>T (p.His35098Tyr)
NM_001267550.2(TTN):c.105295T>A (p.Ser35099Thr) rs1311764657
NM_001267550.2(TTN):c.105304G>A (p.Ala35102Thr) rs794729568
NM_001267550.2(TTN):c.105314A>G (p.Lys35105Arg) rs2154133421
NM_001267550.2(TTN):c.105317G>A (p.Ser35106Asn) rs1575229486
NM_001267550.2(TTN):c.105322G>A (p.Ala35108Thr) rs1689011295
NM_001267550.2(TTN):c.105336_105350dup (p.35109LEEKS[3]) rs1558996383
NM_001267550.2(TTN):c.105340C>G (p.Leu35114Val)
NM_001267550.2(TTN):c.105341T>G (p.Leu35114Arg)
NM_001267550.2(TTN):c.105351A>C (p.Lys35117Asn) rs1689002120
NM_001267550.2(TTN):c.105352T>C (p.Ser35118Pro) rs1689001356
NM_001267550.2(TTN):c.105380T>C (p.Leu35127Ser)
NM_001267550.2(TTN):c.105386C>G (p.Ala35129Gly) rs1688988300
NM_001267550.2(TTN):c.105389G>A (p.Arg35130Lys)
NM_001267550.2(TTN):c.105394C>G (p.Leu35132Val)
NM_001267550.2(TTN):c.105398C>T (p.Thr35133Ile)
NM_001267550.2(TTN):c.105406C>G (p.Arg35136Gly) rs372875128
NM_001267550.2(TTN):c.105410C>T (p.Ser35137Phe)
NM_001267550.2(TTN):c.105415A>G (p.Thr35139Ala) rs1029303559
NM_001267550.2(TTN):c.105424G>C (p.Glu35142Gln) rs765274398
NM_001267550.2(TTN):c.105434C>A (p.Ser35145Tyr) rs1688961412
NM_001267550.2(TTN):c.105437C>T (p.Ala35146Val) rs2154133306
NM_001267550.2(TTN):c.105439A>G (p.Arg35147Gly) rs2154133304
NM_001267550.2(TTN):c.105497G>A (p.Gly35166Glu)
NM_001267550.2(TTN):c.105497G>T (p.Gly35166Val) rs1060500538
NM_001267550.2(TTN):c.105499C>G (p.Gln35167Glu) rs1558994144
NM_001267550.2(TTN):c.105500A>G (p.Gln35167Arg)
NM_001267550.2(TTN):c.105506T>C (p.Leu35169Pro)
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105515C>A (p.Ser35172Tyr) rs749354699
NM_001267550.2(TTN):c.105515C>T (p.Ser35172Phe)
NM_001267550.2(TTN):c.105525C>G (p.His35175Gln) rs1215297501
NM_001267550.2(TTN):c.105526C>A (p.Gln35176Lys)
NM_001267550.2(TTN):c.105539C>A (p.Thr35180Lys) rs1575225765
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys) rs878913505
NM_001267550.2(TTN):c.105554C>T (p.Thr35185Ile) rs781567438
NM_001267550.2(TTN):c.105557T>C (p.Phe35186Ser)
NM_001267550.2(TTN):c.105577G>T (p.Ala35193Ser)
NM_001267550.2(TTN):c.105581C>T (p.Ser35194Phe)
NM_001267550.2(TTN):c.105584A>C (p.Asp35195Ala)
NM_001267550.2(TTN):c.105592A>G (p.Asn35198Asp)
NM_001267550.2(TTN):c.105600C>G (p.Ser35200Arg) rs1553485050
NM_001267550.2(TTN):c.105604G>A (p.Val35202Met)
NM_001267550.2(TTN):c.105613_105633del (p.Asn35205_Glu35211del)
NM_001267550.2(TTN):c.105616A>G (p.Ser35206Gly) rs2154133150
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
NM_001267550.2(TTN):c.105634G>A (p.Ala35212Thr)
NM_001267550.2(TTN):c.105635C>T (p.Ala35212Val)
NM_001267550.2(TTN):c.105637G>A (p.Glu35213Lys)
NM_001267550.2(TTN):c.105644C>T (p.Thr35215Ile)
NM_001267550.2(TTN):c.105652A>G (p.Ile35218Val)
NM_001267550.2(TTN):c.105661G>A (p.Ala35221Thr)
NM_001267550.2(TTN):c.105662C>A (p.Ala35221Asp) rs1558992011
NM_001267550.2(TTN):c.105664A>G (p.Arg35222Gly) rs2154133116
NM_001267550.2(TTN):c.105665G>C (p.Arg35222Thr)
NM_001267550.2(TTN):c.105670A>T (p.Thr35224Ser) rs1688850382
NM_001267550.2(TTN):c.105689C>T (p.Ser35230Leu)
NM_001267550.2(TTN):c.105691C>T (p.Pro35231Ser)
NM_001267550.2(TTN):c.105698G>C (p.Arg35233Thr)
NM_001267550.2(TTN):c.105706T>C (p.Ser35236Pro)
NM_001267550.2(TTN):c.105715C>T (p.Pro35239Ser)
NM_001267550.2(TTN):c.105721G>A (p.Val35241Met)
NM_001267550.2(TTN):c.105731C>T (p.Pro35244Leu) rs2154133075
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp) rs1444816567
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val) rs370476812
NM_001267550.2(TTN):c.105748C>A (p.Pro35250Thr)
NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)
NM_001267550.2(TTN):c.105778C>T (p.His35260Tyr)
NM_001267550.2(TTN):c.105780C>A (p.His35260Gln) rs373486593
NM_001267550.2(TTN):c.105790G>C (p.Val35264Leu) rs770730954
NM_001267550.2(TTN):c.105796C>T (p.Pro35266Ser)
NM_001267550.2(TTN):c.105817C>T (p.Pro35273Ser)
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln) rs1553484561
NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile) rs2857271
NM_001267550.2(TTN):c.105829G>A (p.Val35277Ile)
NM_001267550.2(TTN):c.105829G>T (p.Val35277Phe)
NM_001267550.2(TTN):c.105838C>T (p.Leu35280Phe) rs1688767942
NM_001267550.2(TTN):c.105851C>G (p.Ala35284Gly) rs1553484434
NM_001267550.2(TTN):c.105863T>G (p.Ile35288Ser) rs764713884
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
NM_001267550.2(TTN):c.105881C>G (p.Ala35294Gly) rs569210689
NM_001267550.2(TTN):c.105881C>T (p.Ala35294Val)
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp) rs886055219
NM_001267550.2(TTN):c.105899T>C (p.Ile35300Thr)
NM_001267550.2(TTN):c.105904A>G (p.Lys35302Glu)
NM_001267550.2(TTN):c.105908T>C (p.Leu35303Pro)
NM_001267550.2(TTN):c.105923A>C (p.Glu35308Ala)
NM_001267550.2(TTN):c.105928A>C (p.Ser35310Arg)
NM_001267550.2(TTN):c.105929G>A (p.Ser35310Asn) rs1553484229
NM_001267550.2(TTN):c.105929G>C (p.Ser35310Thr) rs1553484229
NM_001267550.2(TTN):c.105939G>T (p.Arg35313Ser) rs1688720188
NM_001267550.2(TTN):c.105950T>C (p.Val35317Ala)
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser) rs1688710616
NM_001267550.2(TTN):c.105953C>A (p.Thr35318Asn) rs1391706140
NM_001267550.2(TTN):c.105953C>G (p.Thr35318Ser) rs1391706140
NM_001267550.2(TTN):c.105959A>T (p.Tyr35320Phe)
NM_001267550.2(TTN):c.105980A>G (p.Lys35327Arg) rs1164792965
NM_001267550.2(TTN):c.105991C>A (p.His35331Asn)
NM_001267550.2(TTN):c.106006T>G (p.Tyr35336Asp) rs935907208
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser) rs373610666
NM_001267550.2(TTN):c.106019G>C (p.Gly35340Ala)
NM_001267550.2(TTN):c.106019G>T (p.Gly35340Val)
NM_001267550.2(TTN):c.106022C>G (p.Thr35341Ser)
NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr)
NM_001267550.2(TTN):c.106045C>A (p.Leu35349Ile) rs1220665174
NM_001267550.2(TTN):c.106046T>C (p.Leu35349Pro)
NM_001267550.2(TTN):c.106049C>T (p.Thr35350Ile) rs1688665396
NM_001267550.2(TTN):c.106051G>A (p.Glu35351Lys)
NM_001267550.2(TTN):c.106057G>A (p.Asp35353Asn) rs780037060
NM_001267550.2(TTN):c.106057G>C (p.Asp35353His) rs780037060
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys) rs886055218
NM_001267550.2(TTN):c.106070A>C (p.Tyr35357Ser)
NM_001267550.2(TTN):c.106072G>A (p.Val35358Ile) rs2154132826
NM_001267550.2(TTN):c.106073T>A (p.Val35358Asp) rs1172243981
NM_001267550.2(TTN):c.106075T>C (p.Cys35359Arg)
NM_001267550.2(TTN):c.106078G>C (p.Glu35360Gln)
NM_001267550.2(TTN):c.106087G>A (p.Gly35363Ser)
NM_001267550.2(TTN):c.106091A>G (p.Glu35364Gly) rs1688643496
NM_001267550.2(TTN):c.106092A>C (p.Glu35364Asp)
NM_001267550.2(TTN):c.10609T>C (p.Tyr3537His) rs1553969617
NM_001267550.2(TTN):c.106102T>C (p.Ser35368Pro) rs1688636055
NM_001267550.2(TTN):c.106103C>G (p.Ser35368Cys)
NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)
NM_001267550.2(TTN):c.106111A>G (p.Asn35371Asp)
NM_001267550.2(TTN):c.106126G>A (p.Gly35376Arg)
NM_001267550.2(TTN):c.106127G>T (p.Gly35376Val)
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly) rs555476312
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.106137_106139dup (p.Phe35379_Lys35380insAsn) rs2154132776
NM_001267550.2(TTN):c.106150G>A (p.Glu35384Lys) rs1170470596
NM_001267550.2(TTN):c.106179G>C (p.Lys35393Asn)
NM_001267550.2(TTN):c.106184C>T (p.Ser35395Leu)
NM_001267550.2(TTN):c.106186G>A (p.Asp35396Asn)
NM_001267550.2(TTN):c.106188T>A (p.Asp35396Glu) rs770681247
NM_001267550.2(TTN):c.106199C>G (p.Thr35400Ser) rs906681609
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys) rs2154132721
NM_001267550.2(TTN):c.106211T>C (p.Val35404Ala) rs1688584053
NM_001267550.2(TTN):c.106214C>G (p.Thr35405Ser) rs1688580203
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr) rs371304729
NM_001267550.2(TTN):c.106219A>G (p.Lys35407Glu) rs1688576388
NM_001267550.2(TTN):c.106223C>A (p.Thr35408Asn) rs1688573613
NM_001267550.2(TTN):c.106229C>G (p.Pro35410Arg) rs1553483445
NM_001267550.2(TTN):c.106234G>C (p.Ala35412Pro) rs766892661
NM_001267550.2(TTN):c.106238C>G (p.Pro35413Arg) rs1688567795
NM_001267550.2(TTN):c.106240G>C (p.Glu35414Gln) rs1558984927
NM_001267550.2(TTN):c.106253C>T (p.Ser35418Leu)
NM_001267550.2(TTN):c.106265T>C (p.Ile35422Thr) rs1688557044
NM_001267550.2(TTN):c.106274G>A (p.Gly35425Glu) rs1204851576
NM_001267550.2(TTN):c.106285A>T (p.Thr35429Ser)
NM_001267550.2(TTN):c.106289C>A (p.Thr35430Asn)
NM_001267550.2(TTN):c.106302C>G (p.Asp35434Glu)
NM_001267550.2(TTN):c.106325A>G (p.Lys35442Arg) rs1688520726
NM_001267550.2(TTN):c.106327G>A (p.Ala35443Thr)
NM_001267550.2(TTN):c.106330A>G (p.Thr35444Ala) rs1688516881
NM_001267550.2(TTN):c.106330A>T (p.Thr35444Ser) rs1688516881
NM_001267550.2(TTN):c.106349C>T (p.Thr35450Ile) rs371022420
NM_001267550.2(TTN):c.106365A>C (p.Lys35455Asn)
NM_001267550.2(TTN):c.106375-3C>T rs1688412007
NM_001267550.2(TTN):c.106378A>G (p.Ile35460Val) rs1688408023
NM_001267550.2(TTN):c.106397A>G (p.Tyr35466Cys)
NM_001267550.2(TTN):c.106402C>G (p.Leu35468Val)
NM_001267550.2(TTN):c.106415A>C (p.Lys35472Thr) rs1688385311
NM_001267550.2(TTN):c.106418G>A (p.Gly35473Glu) rs1688381864
NM_001267550.2(TTN):c.106439A>C (p.His35480Pro)
NM_001267550.2(TTN):c.106444A>T (p.Thr35482Ser) rs1423470146
NM_001267550.2(TTN):c.106451C>A (p.Thr35484Asn) rs754163825
NM_001267550.2(TTN):c.106461T>A (p.Ser35487Arg) rs886039020
NM_001267550.2(TTN):c.106472C>A (p.Thr35491Asn) rs1461069852
NM_001267550.2(TTN):c.106472C>T (p.Thr35491Ile)
NM_001267550.2(TTN):c.106486A>C (p.Asn35496His) rs1688351717
NM_001267550.2(TTN):c.106487A>C (p.Asn35496Thr) rs2154132393
NM_001267550.2(TTN):c.106488T>A (p.Asn35496Lys)
NM_001267550.2(TTN):c.106492G>C (p.Ala35498Pro) rs878879036
NM_001267550.2(TTN):c.106495G>A (p.Gly35499Arg) rs779794234
NM_001267550.2(TTN):c.106496G>A (p.Gly35499Glu)
NM_001267550.2(TTN):c.106511G>T (p.Ser35504Ile)
NM_001267550.2(TTN):c.106514G>A (p.Cys35505Tyr) rs2154132356
NM_001267550.2(TTN):c.106525A>G (p.Ile35509Val) rs1553482514
NM_001267550.2(TTN):c.106526T>C (p.Ile35509Thr) rs1447572736
NM_001267550.2(TTN):c.106531+5G>T
NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr) rs768786354
NM_001267550.2(TTN):c.106546G>A (p.Glu35516Lys)
NM_001267550.2(TTN):c.106558G>A (p.Val35520Ile)
NM_001267550.2(TTN):c.106565C>A (p.Thr35522Lys)
NM_001267550.2(TTN):c.106567C>A (p.Gln35523Lys) rs1019567796
NM_001267550.2(TTN):c.106573A>G (p.Thr35525Ala) rs1575198568
NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer) rs768256269
NM_001267550.2(TTN):c.10657A>G (p.Thr3553Ala) rs1553969472
NM_001267550.2(TTN):c.106588C>A (p.Pro35530Thr)
NM_001267550.2(TTN):c.106592A>G (p.Gln35531Arg) rs1687861665
NM_001267550.2(TTN):c.106600G>A (p.Ala35534Thr)
NM_001267550.2(TTN):c.106601C>T (p.Ala35534Val) rs878854284
NM_001267550.2(TTN):c.106602TGT[1] (p.Val35536del)
NM_001267550.2(TTN):c.106603G>A (p.Val35535Ile) rs1553481274
NM_001267550.2(TTN):c.106607T>C (p.Val35536Ala)
NM_001267550.2(TTN):c.106610A>G (p.Gln35537Arg)
NM_001267550.2(TTN):c.106612G>C (p.Glu35538Gln) rs968812751
NM_001267550.2(TTN):c.106648A>G (p.Ile35550Val) rs1558973830
NM_001267550.2(TTN):c.106654A>T (p.Met35552Leu)
NM_001267550.2(TTN):c.106655T>G (p.Met35552Arg) rs2154131569
NM_001267550.2(TTN):c.106660G>C (p.Glu35554Gln) rs1165517840
NM_001267550.2(TTN):c.106661A>G (p.Glu35554Gly)
NM_001267550.2(TTN):c.106670C>T (p.Ser35557Phe) rs760531226
NM_001267550.2(TTN):c.106679A>T (p.Lys35560Met)
NM_001267550.2(TTN):c.106708G>A (p.Val35570Ile)
NM_001267550.2(TTN):c.106712T>C (p.Leu35571Pro)
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys) rs886055217
NM_001267550.2(TTN):c.106723G>C (p.Glu35575Gln)
NM_001267550.2(TTN):c.106724A>C (p.Glu35575Ala)
NM_001267550.2(TTN):c.106727T>G (p.Val35576Gly) rs144188176
NM_001267550.2(TTN):c.106735T>G (p.Ser35579Ala)
NM_001267550.2(TTN):c.106765G>A (p.Val35589Ile) rs745560169
NM_001267550.2(TTN):c.106766T>C (p.Val35589Ala)
NM_001267550.2(TTN):c.106770T>G (p.His35590Gln) rs1052651705
NM_001267550.2(TTN):c.106771G>C (p.Glu35591Gln) rs935554305
NM_001267550.2(TTN):c.106774G>A (p.Glu35592Lys)
NM_001267550.2(TTN):c.106783A>G (p.Lys35595Glu)
NM_001267550.2(TTN):c.106792C>G (p.Gln35598Glu) rs767339203
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys) rs1558972236
NM_001267550.2(TTN):c.106835T>C (p.Phe35612Ser)
NM_001267550.2(TTN):c.106841C>G (p.Thr35614Ser) rs2154131436
NM_001267550.2(TTN):c.106852A>G (p.Ile35618Val) rs2154131431
NM_001267550.2(TTN):c.106854A>G (p.Ile35618Met)
NM_001267550.2(TTN):c.106857C>A (p.Asn35619Lys) rs116604145
NM_001267550.2(TTN):c.106889T>C (p.Ile35630Thr)
NM_001267550.2(TTN):c.106894G>A (p.Gly35632Ser)
NM_001267550.2(TTN):c.106894G>C (p.Gly35632Arg)
NM_001267550.2(TTN):c.106895G>T (p.Gly35632Val) rs1210557316
NM_001267550.2(TTN):c.106903G>A (p.Asp35635Asn)
NM_001267550.2(TTN):c.106910A>G (p.Lys35637Arg)
NM_001267550.2(TTN):c.106911A>T (p.Lys35637Asn) rs767045071
NM_001267550.2(TTN):c.106912T>C (p.Trp35638Arg) rs1408667252
NM_001267550.2(TTN):c.106915G>A (p.Val35639Ile) rs557752216
NM_001267550.2(TTN):c.106915G>C (p.Val35639Leu)
NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro) rs750550267
NM_001267550.2(TTN):c.106928T>C (p.Val35643Ala)
NM_001267550.2(TTN):c.106930G>C (p.Glu35644Gln)
NM_001267550.2(TTN):c.106940A>C (p.Asn35647Thr)
NM_001267550.2(TTN):c.106948G>A (p.Glu35650Lys)
NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp) rs886042500
NM_001267550.2(TTN):c.106969G>A (p.Gly35657Ser) rs2154131322
NM_001267550.2(TTN):c.106974C>A (p.Ser35658Arg)
NM_001267550.2(TTN):c.106984C>A (p.Leu35662Ile) rs2154131306
NM_001267550.2(TTN):c.106990A>G (p.Ile35664Val) rs781108499
NM_001267550.2(TTN):c.106991T>G (p.Ile35664Ser) rs1060500501
NM_001267550.2(TTN):c.106996C>A (p.Gln35666Lys)
NM_001267550.2(TTN):c.1069del (p.Ala357fs) rs2154356210
NM_001267550.2(TTN):c.107002A>C (p.Ser35668Arg)
NM_001267550.2(TTN):c.107003G>A (p.Ser35668Asn) rs1687674300
NM_001267550.2(TTN):c.107009G>A (p.Arg35670Lys) rs534961012
NM_001267550.2(TTN):c.107023C>T (p.Leu35675Phe)
NM_001267550.2(TTN):c.107027C>T (p.Thr35676Ile)
NM_001267550.2(TTN):c.107046G>C (p.Lys35682Asn)
NM_001267550.2(TTN):c.107059A>C (p.Lys35687Gln) rs2154131240
NM_001267550.2(TTN):c.107066A>G (p.Gln35689Arg) rs1451601178
NM_001267550.2(TTN):c.107093T>A (p.Leu35698His)
NM_001267550.2(TTN):c.107098G>A (p.Asp35700Asn) rs1575190768
NM_001267550.2(TTN):c.107099A>G (p.Asp35700Gly) rs1060500391
NM_001267550.2(TTN):c.107101G>A (p.Ala35701Thr)
NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu) rs71423567
NM_001267550.2(TTN):c.107125A>G (p.Arg35709Gly)
NM_001267550.2(TTN):c.107126G>T (p.Arg35709Ile)
NM_001267550.2(TTN):c.107143G>A (p.Glu35715Lys)
NM_001267550.2(TTN):c.107158C>A (p.Leu35720Ile)
NM_001267550.2(TTN):c.107173A>G (p.Ile35725Val) rs1687594887
NM_001267550.2(TTN):c.107181C>T (p.Gly35727=) rs762859509
NM_001267550.2(TTN):c.107191C>T (p.Pro35731Ser) rs1687589442
NM_001267550.2(TTN):c.107199C>G (p.Ile35733Met) rs776237176
NM_001267550.2(TTN):c.107209A>C (p.Lys35737Gln) rs1687580805
NM_001267550.2(TTN):c.107217C>A (p.Asn35739Lys)
NM_001267550.2(TTN):c.107221C>G (p.Pro35741Ala) rs1455118621
NM_001267550.2(TTN):c.107223+3A>C rs2154131091
NM_001267550.2(TTN):c.107223A>G (p.Pro35741=)
NM_001267550.2(TTN):c.107225T>C (p.Ile35742Thr) rs1553479315
NM_001267550.2(TTN):c.107234C>A (p.Ser35745Tyr) rs2154130964
NM_001267550.2(TTN):c.107239A>T (p.Asn35747Tyr)
NM_001267550.2(TTN):c.107248A>G (p.Ile35750Val)
NM_001267550.2(TTN):c.107261G>A (p.Arg35754Lys)
NM_001267550.2(TTN):c.107269T>C (p.Tyr35757His) rs2154130935
NM_001267550.2(TTN):c.107284C>A (p.Arg35762=) rs1477669354
NM_001267550.2(TTN):c.107288A>C (p.Asn35763Thr) rs1687455146
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser) rs879048717
NM_001267550.2(TTN):c.107292A>G (p.Ala35764=) rs1553479171
NM_001267550.2(TTN):c.107305A>C (p.Ser35769Arg)
NM_001267550.2(TTN):c.107314T>C (p.Tyr35772His)
NM_001267550.2(TTN):c.107318C>A (p.Thr35773Lys)
NM_001267550.2(TTN):c.107321T>C (p.Ile35774Thr) rs2154130889
NM_001267550.2(TTN):c.107337C>G (p.Phe35779Leu) rs1687437542
NM_001267550.2(TTN):c.107342G>C (p.Gly35781Ala)
NM_001267550.2(TTN):c.107346G>C (p.Gln35782His)
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe) rs1473450556
NM_001267550.2(TTN):c.107353G>T (p.Ala35785Ser)
NM_001267550.2(TTN):c.107370G>C (p.Met35790Ile)
NM_001267550.2(TTN):c.107372T>C (p.Val35791Ala)
NM_001267550.2(TTN):c.107377+3A>G
NM_001267550.2(TTN):c.107377C>T (p.Pro35793Ser) rs1337678636
NM_001267550.2(TTN):c.107378-3C>G rs762133725
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala) rs1553478042
NM_001267550.2(TTN):c.107391A>C (p.Glu35797Asp)
NM_001267550.2(TTN):c.107392C>A (p.Pro35798Thr) rs780544430
NM_001267550.2(TTN):c.107393C>A (p.Pro35798His)
NM_001267550.2(TTN):c.107395T>C (p.Ser35799Pro)
NM_001267550.2(TTN):c.107405T>C (p.Val35802Ala)
NM_001267550.2(TTN):c.107411T>C (p.Leu35804Ser) rs2154130341
NM_001267550.2(TTN):c.107422G>A (p.Gly35808Ser) rs2154130329
NM_001267550.2(TTN):c.107429C>T (p.Thr35810Ile)
NM_001267550.2(TTN):c.107436G>T (p.Leu35812Phe)
NM_001267550.2(TTN):c.107446T>A (p.Phe35816Ile)
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)
NM_001267550.2(TTN):c.107468T>C (p.Met35823Thr)
NM_001267550.2(TTN):c.107469G>A (p.Met35823Ile)
NM_001267550.2(TTN):c.107470T>C (p.Ser35824Pro)
NM_001267550.2(TTN):c.107481G>C (p.Lys35827Asn) rs1255811280
NM_001267550.2(TTN):c.107487G>C (p.Glu35829Asp) rs2154130286
NM_001267550.2(TTN):c.107498_107499delinsAA (p.Ser35833Lys) rs1687011687
NM_001267550.2(TTN):c.107504T>G (p.Phe35835Cys) rs1687009141
NM_001267550.2(TTN):c.107506A>C (p.Ser35836Arg) rs1687008231
NM_001267550.2(TTN):c.107509A>T (p.Ser35837Cys) rs1232738337
NM_001267550.2(TTN):c.107510G>A (p.Ser35837Asn) rs2154130270
NM_001267550.2(TTN):c.107512A>G (p.Ser35838Gly) rs1575176926
NM_001267550.2(TTN):c.107516G>A (p.Ser35839Asn)
NM_001267550.2(TTN):c.107524A>G (p.Ser35842Gly)
NM_001267550.2(TTN):c.107529G>A (p.Met35843Ile)
NM_001267550.2(TTN):c.107540A>G (p.Lys35847Arg) rs1575176578
NM_001267550.2(TTN):c.107552T>A (p.Met35851Lys)
NM_001267550.2(TTN):c.107557G>A (p.Ala35853Thr) rs1553477669
NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile) rs1053387515
NM_001267550.2(TTN):c.107565C>G (p.Ser35855Arg) rs1469711405
NM_001267550.2(TTN):c.107577G>A (p.Met35859Ile) rs772602914
NM_001267550.2(TTN):c.107578_107583del (p.Gln35860_Glu35861del) rs751689670
NM_001267550.2(TTN):c.107590G>C (p.Val35864Leu) rs746430344
NM_001267550.2(TTN):c.107595A>C (p.Glu35865Asp) rs1686972976
NM_001267550.2(TTN):c.107614A>G (p.Met35872Val)
NM_001267550.2(TTN):c.107623T>C (p.Ser35875Pro)
NM_001267550.2(TTN):c.107631G>A (p.Met35877Ile) rs1686957619
NM_001267550.2(TTN):c.107632A>G (p.Thr35878Ala)
NM_001267550.2(TTN):c.107633C>T (p.Thr35878Ile) rs1686956801
NM_001267550.2(TTN):c.107642A>G (p.Glu35881Gly) rs1686954050
NM_001267550.2(TTN):c.107645G>T (p.Ser35882Ile)
NM_001267550.2(TTN):c.107653A>G (p.Ser35885Gly)
NM_001267550.2(TTN):c.107674A>C (p.Ile35892Leu)
NM_001267550.2(TTN):c.107680+4A>C
NM_001267550.2(TTN):c.107681-3A>C
NM_001267550.2(TTN):c.107684T>C (p.Ile35895Thr) rs2154130013
NM_001267550.2(TTN):c.107687C>T (p.Pro35896Leu) rs767565621
NM_001267550.2(TTN):c.107690C>G (p.Pro35897Arg) rs1558956138
NM_001267550.2(TTN):c.107690C>T (p.Pro35897Leu) rs1558956138
NM_001267550.2(TTN):c.107701_107844del (p.Ala35901_Glu35948del) rs1686739585
NM_001267550.2(TTN):c.107702C>T (p.Ala35901Val)
NM_001267550.2(TTN):c.107707C>T (p.Pro35903Ser)
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) rs377401997
NM_001267550.2(TTN):c.107714A>G (p.Asp35905Gly) rs1558955826
NM_001267550.2(TTN):c.107716A>G (p.Ile35906Val) rs1558955770
NM_001267550.2(TTN):c.107717T>C (p.Ile35906Thr) rs1686809478
NM_001267550.2(TTN):c.107726A>G (p.Asp35909Gly) rs1686804657
NM_001267550.2(TTN):c.107741T>C (p.Leu35914Pro)
NM_001267550.2(TTN):c.107743A>C (p.Thr35915Pro)
NM_001267550.2(TTN):c.107746G>C (p.Val35916Leu) rs1686792927
NM_001267550.2(TTN):c.107747T>C (p.Val35916Ala) rs2154129959
NM_001267550.2(TTN):c.107762C>A (p.Thr35921Lys) rs749277200
NM_001267550.2(TTN):c.107768A>C (p.Glu35923Ala) rs2154129939
NM_001267550.2(TTN):c.107770C>G (p.Pro35924Ala)
NM_001267550.2(TTN):c.107774C>A (p.Thr35925Asn) rs755111765
NM_001267550.2(TTN):c.107777C>T (p.Pro35926Leu)
NM_001267550.2(TTN):c.107782G>T (p.Val35928Leu)
NM_001267550.2(TTN):c.107786C>A (p.Thr35929Lys)
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg) rs1018591024
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.107800G>A (p.Gly35934Arg) rs368277535
NM_001267550.2(TTN):c.107811C>G (p.Ile35937Met)
NM_001267550.2(TTN):c.107817T>G (p.Ser35939Arg)
NM_001267550.2(TTN):c.107821G>C (p.Glu35941Gln)
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile) rs1575169924
NM_001267550.2(TTN):c.107835C>G (p.Phe35945Leu) rs2154129860
NM_001267550.2(TTN):c.107836C>T (p.His35946Tyr) rs1686745897
NM_001267550.2(TTN):c.107839A>G (p.Ile35947Val) rs1553476576
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) rs281864928
NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser) rs281864928
NM_001267550.2(TTN):c.107842_107844dup (p.Glu35948dup) rs2154129846
NM_001267550.2(TTN):c.107844A>C (p.Glu35948Asp)
NM_001267550.2(TTN):c.107851G>T (p.Asp35951Tyr) rs2154129841
NM_001267550.2(TTN):c.107861_107869del (p.Thr35954_Leu35956del)
NM_001267550.2(TTN):c.107864C>T (p.Thr35955Ile) rs370267738
NM_001267550.2(TTN):c.107870T>C (p.Ile35957Thr)
NM_001267550.2(TTN):c.107871C>G (p.Ile35957Met)
NM_001267550.2(TTN):c.107875A>G (p.Met35959Val) rs1220326083
NM_001267550.2(TTN):c.107881G>A (p.Val35961Ile) rs780886524
NM_001267550.2(TTN):c.107903T>C (p.Leu35968Pro) rs1686710377
NM_001267550.2(TTN):c.107903T>G (p.Leu35968Arg) rs1686710377
NM_001267550.2(TTN):c.107909C>T (p.Thr35970Ile) rs765869850
NM_001267550.2(TTN):c.107911_107912del (p.Leu35971fs) rs2154129791
NM_001267550.2(TTN):c.107912T>A (p.Leu35971Gln) rs1686706196
NM_001267550.2(TTN):c.107926G>T (p.Glu35976Ter) rs1259397789
NM_001267550.2(TTN):c.107933G>A (p.Gly35978Glu) rs2154129775
NM_001267550.2(TTN):c.107947A>C (p.Thr35983Pro)
NM_001267550.2(TTN):c.107960A>G (p.His35987Arg)
NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter) rs770506970
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) rs374300381
NM_001267550.2(TTN):c.10825G>T (p.Glu3609Ter)
NM_001267550.2(TTN):c.10834G>C (p.Val3612Leu) rs1352067592
NM_001267550.2(TTN):c.10C>T (p.Gln4Ter)
NM_001267550.2(TTN):c.11191del (p.Ser3731fs)
NM_001267550.2(TTN):c.11209G>A (p.Asp3737Asn) rs1243794346
NM_001267550.2(TTN):c.11252_11253delinsAA (p.Gly3751Glu) rs1553967105
NM_001267550.2(TTN):c.11288_11289del (p.Gln3763fs) rs1574322133
NM_001267550.2(TTN):c.1128G>A (p.Trp376Ter) rs932770906
NM_001267550.2(TTN):c.11310del (p.Glu3771fs) rs2086020099
NM_001267550.2(TTN):c.11311+1G>T rs1553963537
NM_001267550.2(TTN):c.11324C>T (p.Ser3775Phe) rs892763465
NM_001267550.2(TTN):c.11412del (p.Pro3805fs) rs2082534727
NM_001267550.2(TTN):c.11421_11422delinsGT (p.Tyr3807_Pro3808delinsTer)
NM_001267550.2(TTN):c.11444del (p.Lys3815fs) rs1574099951
NM_001267550.2(TTN):c.11495del (p.Ser3832fs)
NM_001267550.2(TTN):c.11497_11515del (p.Met3833fs) rs2154319069
NM_001267550.2(TTN):c.11637del (p.Leu3880fs) rs1560926034
NM_001267550.2(TTN):c.11754del (p.Asp3918fs) rs2154318864
NM_001267550.2(TTN):c.11825A>C (p.Lys3942Thr) rs1060500569
NM_001267550.2(TTN):c.11831T>A (p.Leu3944Ter)
NM_001267550.2(TTN):c.11843G>T (p.Arg3948Leu) rs775618077
NM_001267550.2(TTN):c.1185C>A (p.Ala395=) rs372346898
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr) rs200052202
NM_001267550.2(TTN):c.11871dup (p.Glu3958Ter) rs2082452692
NM_001267550.2(TTN):c.11881G>A (p.Val3961Met) rs1017307763
NM_001267550.2(TTN):c.118T>C (p.Phe40Leu) rs1554045595
NM_001267550.2(TTN):c.11903C>T (p.Thr3968Ile) rs1416083040
NM_001267550.2(TTN):c.11912G>A (p.Trp3971Ter) rs869312102
NM_001267550.2(TTN):c.11913G>A (p.Trp3971Ter) rs749961489
NM_001267550.2(TTN):c.12066T>G (p.Cys4022Trp) rs931245340
NM_001267550.2(TTN):c.1206del (p.Ser403fs)
NM_001267550.2(TTN):c.12113C>G (p.Thr4038Ser) rs758968807
NM_001267550.2(TTN):c.12117del (p.Cys4040fs) rs1560918374
NM_001267550.2(TTN):c.12208G>T (p.Glu4070Ter) rs397517830
NM_001267550.2(TTN):c.12239del (p.Ile4079_Leu4080insTer) rs2082383767
NM_001267550.2(TTN):c.12251T>G (p.Leu4084Ter)
NM_001267550.2(TTN):c.12259G>T (p.Glu4087Ter) rs2154318496
NM_001267550.2(TTN):c.12289del (p.Ile4097fs)
NM_001267550.2(TTN):c.12316C>T (p.Gln4106Ter) rs1553940122
NM_001267550.2(TTN):c.12345del (p.Gln4115fs)
NM_001267550.2(TTN):c.12358C>T (p.Gln4120Ter) rs746184552
NM_001267550.2(TTN):c.12397_12505dup (p.Pro4169fs) rs1553939638
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12451C>T (p.Gln4151Ter)
NM_001267550.2(TTN):c.1246-2A>G rs2154355995
NM_001267550.2(TTN):c.12472C>T (p.Gln4158Ter) rs745720217
NM_001267550.2(TTN):c.12478del (p.Thr4160fs) rs2154318358
NM_001267550.2(TTN):c.12482del (p.Phe4161fs)
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs) rs1553939605
NM_001267550.2(TTN):c.1252C>T (p.Gln418Ter)
NM_001267550.2(TTN):c.12583_12586del (p.Asn4195fs) rs2082328931
NM_001267550.2(TTN):c.12612_12625del (p.Thr4204_Leu4205insTer) rs1574081963
NM_001267550.2(TTN):c.12643_12644del (p.Gln4215fs) rs869312038
NM_001267550.2(TTN):c.12679A>T (p.Thr4227Ser) rs1553939161
NM_001267550.2(TTN):c.12680C>A (p.Thr4227Asn) rs777055785
NM_001267550.2(TTN):c.12704C>A (p.Ser4235Ter) rs1253161767
NM_001267550.2(TTN):c.12742C>T (p.Gln4248Ter) rs794729308
NM_001267550.2(TTN):c.12744_12745del (p.Arg4249fs) rs2154318180
NM_001267550.2(TTN):c.12754_12755del (p.Leu4252fs)
NM_001267550.2(TTN):c.12766G>A (p.Glu4256Lys) rs1560908997
NM_001267550.2(TTN):c.12817G>A (p.Glu4273Lys) rs1553938808
NM_001267550.2(TTN):c.12823C>T (p.Leu4275Phe) rs773905874
NM_001267550.2(TTN):c.12869del (p.Leu4290fs)
NM_001267550.2(TTN):c.12891C>A (p.Cys4297Ter)
NM_001267550.2(TTN):c.12895G>C (p.Glu4299Gln) rs1430420761
NM_001267550.2(TTN):c.12897dup (p.Gly4300fs) rs2082273335
NM_001267550.2(TTN):c.12937A>G (p.Asn4313Asp) rs1553938408
NM_001267550.2(TTN):c.12943_12950dup (p.Asp4317fs)
NM_001267550.2(TTN):c.1296del (p.Val433fs) rs2093669726
NM_001267550.2(TTN):c.12972del (p.Gly4325fs) rs2082260794
NM_001267550.2(TTN):c.13072G>T (p.Glu4358Ter) rs757979946
NM_001267550.2(TTN):c.13075T>C (p.Ser4359Pro) rs1060500434
NM_001267550.2(TTN):c.13083del (p.Glu4362fs) rs2154317986
NM_001267550.2(TTN):c.13102_13105del (p.Lys4368fs) rs1553937967
NM_001267550.2(TTN):c.13115_13118dup (p.Gln4373fs)
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs) rs2082227467
NM_001267550.2(TTN):c.13144dup (p.Ser4382fs) rs1560902834
NM_001267550.2(TTN):c.13157del (p.Gly4386fs)
NM_001267550.2(TTN):c.1318G>A (p.Glu440Lys) rs747410439
NM_001267550.2(TTN):c.13201del (p.Arg4401fs)
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser) rs727503656
NM_001267550.2(TTN):c.13329C>G (p.Tyr4443Ter)
NM_001267550.2(TTN):c.13335del (p.Thr4446fs)
NM_001267550.2(TTN):c.13340C>A (p.Ser4447Ter)
NM_001267550.2(TTN):c.13382_13383del (p.Asp4461fs)
NM_001267550.2(TTN):c.13397del (p.Met4466fs)
NM_001267550.2(TTN):c.13408A>T (p.Lys4470Ter) rs903809826
NM_001267550.2(TTN):c.13435G>A (p.Ala4479Thr) rs776871094
NM_001267550.2(TTN):c.13446T>A (p.Tyr4482Ter)
NM_001267550.2(TTN):c.13446T>G (p.Tyr4482Ter)
NM_001267550.2(TTN):c.13459A>G (p.Ile4487Val) rs1553937057
NM_001267550.2(TTN):c.13487A>G (p.Gln4496Arg) rs878854287
NM_001267550.2(TTN):c.13525del (p.Ser4509fs) rs1553936898
NM_001267550.2(TTN):c.13540C>T (p.Gln4514Ter)
NM_001267550.2(TTN):c.13621C>T (p.Gln4541Ter) rs2154317658
NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu) rs200422152
NM_001267550.2(TTN):c.13720G>T (p.Glu4574Ter) rs2154317609
NM_001267550.2(TTN):c.13729G>T (p.Glu4577Ter)
NM_001267550.2(TTN):c.13759_13772delinsTTCTTTGTTATTTTTAAACCAAGTAACCTGGATCACAGGTGAGCCTTTCAGCTTGCAATGGAGGCGTGCTGATTCACCTGGGAGCATTAAATAAGAGGGATCCACCTTCTTCACGAAGGATGGTGGCTCTACATGAAGTTTACAAA (p.Glu4587_Val4591delinsPhePheValIlePheLysProSerAsnLeuAspHisArgTer)
NM_001267550.2(TTN):c.13760del (p.Glu4587fs) rs1266489077
NM_001267550.2(TTN):c.1381C>T (p.Gln461Ter)
NM_001267550.2(TTN):c.13821G>T (p.Met4607Ile) rs1553936266
NM_001267550.2(TTN):c.13838_13839del (p.Val4613fs) rs2154317516
NM_001267550.2(TTN):c.13900G>T (p.Glu4634Ter) rs869312103
NM_001267550.2(TTN):c.13911G>A (p.Trp4637Ter)
NM_001267550.2(TTN):c.13914T>A (p.Tyr4638Ter) rs794729388
NM_001267550.2(TTN):c.13934C>A (p.Pro4645His) rs1553936055
NM_001267550.2(TTN):c.13945A>G (p.Lys4649Glu) rs1060500392
NM_001267550.2(TTN):c.13966C>T (p.Gln4656Ter) rs747289468
NM_001267550.2(TTN):c.1398+320_1624del
NM_001267550.2(TTN):c.14014C>A (p.Gln4672Lys) rs1553935908
NM_001267550.2(TTN):c.14092+1G>A
NM_001267550.2(TTN):c.14118C>G (p.Ile4706Met) rs267599072
NM_001267550.2(TTN):c.14171A>G (p.Gln4724Arg) rs1553934896
NM_001267550.2(TTN):c.1417A>T (p.Lys473Ter) rs2154355442
NM_001267550.2(TTN):c.14188C>A (p.Arg4730=) rs749719834
NM_001267550.2(TTN):c.14212C>T (p.Arg4738Ter)
NM_001267550.2(TTN):c.14287del (p.Gln4763fs) rs1560880125
NM_001267550.2(TTN):c.14320G>A (p.Ala4774Thr) rs1404878972
NM_001267550.2(TTN):c.14337_14341dup (p.Val4781fs) rs2154316604
NM_001267550.2(TTN):c.14367_14368insT (p.Thr4790fs)
NM_001267550.2(TTN):c.14371+3A>G rs2154316576
NM_001267550.2(TTN):c.14371G>A (p.Glu4791Lys)
NM_001267550.2(TTN):c.14452dup (p.Val4818fs) rs2154314529
NM_001267550.2(TTN):c.14476del (p.Thr4826fs) rs1220176907
NM_001267550.2(TTN):c.14484G>A (p.Trp4828Ter)
NM_001267550.2(TTN):c.14510C>G (p.Pro4837Arg)
NM_001267550.2(TTN):c.14513_14517del (p.Pro4837_Ser4838insTer) rs2154314476
NM_001267550.2(TTN):c.14676del (p.Glu4893fs)
NM_001267550.2(TTN):c.14709G>C (p.Lys4903Asn) rs1060500444
NM_001267550.2(TTN):c.1470del (p.Glu490fs) rs2093617332
NM_001267550.2(TTN):c.14710A>T (p.Lys4904Ter) rs1560853002
NM_001267550.2(TTN):c.14713G>T (p.Val4905Phe) rs774495507
NM_001267550.2(TTN):c.14753C>T (p.Thr4918Ile) rs749179515
NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala) rs201744218
NM_001267550.2(TTN):c.15007T>A (p.Cys5003Ser) rs1553930348
NM_001267550.2(TTN):c.15177C>A (p.Asp5059Glu) rs74607159
NM_001267550.2(TTN):c.15181G>T (p.Gly5061Cys) rs1441268700
NM_001267550.2(TTN):c.15218-2A>G rs1004898711
NM_001267550.2(TTN):c.15224C>T (p.Pro5075Leu) rs1553929816
NM_001267550.2(TTN):c.15263G>A (p.Arg5088Lys) rs766300782
NM_001267550.2(TTN):c.15277C>G (p.Leu5093Val) rs764663290
NM_001267550.2(TTN):c.15324G>A (p.Trp5108Ter) rs755339616
NM_001267550.2(TTN):c.1536+1G>A rs2093614668
NM_001267550.2(TTN):c.1536+1G>T
NM_001267550.2(TTN):c.1536+3G>A rs1414333301
NM_001267550.2(TTN):c.1537-1G>C
NM_001267550.2(TTN):c.1545_1549del (p.Lys515fs)
NM_001267550.2(TTN):c.15464A>C (p.Lys5155Thr) rs727504207
NM_001267550.2(TTN):c.15475A>G (p.Met5159Val) rs1553929310
NM_001267550.2(TTN):c.15496+4A>G
NM_001267550.2(TTN):c.15496+5G>C
NM_001267550.2(TTN):c.15496G>T (p.Glu5166Ter)
NM_001267550.2(TTN):c.15497-2A>G rs1232334931
NM_001267550.2(TTN):c.1551_1552del (p.Glu518fs) rs2154354703
NM_001267550.2(TTN):c.15527del (p.Asp5176fs)
NM_001267550.2(TTN):c.15576del (p.Ser5194fs) rs1578202642
NM_001267550.2(TTN):c.15605T>C (p.Met5202Thr) rs764755768
NM_001267550.2(TTN):c.15615_15622del (p.Gln5205fs)
NM_001267550.2(TTN):c.15775+1G>A rs1353528319
NM_001267550.2(TTN):c.15952del (p.Leu5318fs) rs778392667
NM_001267550.2(TTN):c.16023C>A (p.Ser5341Arg) rs1553927522
NM_001267550.2(TTN):c.16048del (p.Val5350fs)
NM_001267550.2(TTN):c.16057C>T (p.Arg5353Ter) rs267599069
NM_001267550.2(TTN):c.16077del (p.Phe5359fs) rs2080842093
NM_001267550.2(TTN):c.16093A>C (p.Asn5365His) rs878854288
NM_001267550.2(TTN):c.16133G>A (p.Cys5378Tyr) rs754271006
NM_001267550.2(TTN):c.16138A>G (p.Ile5380Val) rs1280725528
NM_001267550.2(TTN):c.1621_1622insCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACTAGAATTTCTG (p.Glu541delinsAlaLeuLeuValPheLeuArgPheValLysAspGlnIleValValAspMetArgHisTyrPheTer) rs2093537697
NM_001267550.2(TTN):c.16244_16248delinsCTGTCT (p.Glu5415fs) rs2080810704
NM_001267550.2(TTN):c.16342+5G>C rs950440116
NM_001267550.2(TTN):c.16356del (p.Phe5452fs)
NM_001267550.2(TTN):c.16446A>G (p.Arg5482=) rs1426268579
NM_001267550.2(TTN):c.16489T>A (p.Tyr5497Asn) rs1279249843
NM_001267550.2(TTN):c.16508T>A (p.Leu5503Ter) rs2154310403
NM_001267550.2(TTN):c.1662+2T>G rs2154354670
NM_001267550.2(TTN):c.1662+5G>A rs1021479898
NM_001267550.2(TTN):c.16693T>C (p.Cys5565Arg) rs1228967454
NM_001267550.2(TTN):c.16713del (p.Pro5572fs)
NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser) rs1060500588
NM_001267550.2(TTN):c.16848_16849del (p.Cys5616_Glu5617delinsTer) rs2154309910
NM_001267550.2(TTN):c.16903+2T>C rs1060500574
NM_001267550.2(TTN):c.16907C>T (p.Ser5636Leu) rs1553925181
NM_001267550.2(TTN):c.17032_17033del (p.Arg5678fs)
NM_001267550.2(TTN):c.17182+1G>A
NM_001267550.2(TTN):c.17201AGA[1] (p.Lys5735del) rs1060500441
NM_001267550.2(TTN):c.17213G>A (p.Ser5738Asn) rs1060500502
NM_001267550.2(TTN):c.17281del (p.Thr5760_Val5761insTer) rs1392541002
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile) rs1553924253
NM_001267550.2(TTN):c.17423C>T (p.Ala5808Val) rs1409068952
NM_001267550.2(TTN):c.17461+1G>A
NM_001267550.2(TTN):c.17461+1G>C rs747990127
NM_001267550.2(TTN):c.17461+5G>C
NM_001267550.2(TTN):c.17482G>T (p.Glu5828Ter)
NM_001267550.2(TTN):c.1759_1763del (p.Thr587fs) rs1024367270
NM_001267550.2(TTN):c.17612_17613insAAAAATATAAAAT (p.Ile5871_Ser5872insLysIleTer)
NM_001267550.2(TTN):c.1771C>G (p.Gln591Glu) rs747286444
NM_001267550.2(TTN):c.17741-1G>A rs2154308493
NM_001267550.2(TTN):c.17773C>A (p.Leu5925Met) rs750909367
NM_001267550.2(TTN):c.17823del (p.Ile5941fs) rs2154308403
NM_001267550.2(TTN):c.17875A>G (p.Ile5959Val) rs1060500508
NM_001267550.2(TTN):c.17992G>A (p.Gly5998Arg) rs757934638
NM_001267550.2(TTN):c.1801-2A>G
NM_001267550.2(TTN):c.18028+1G>A rs1560786548
NM_001267550.2(TTN):c.18028+2T>C rs1553922787
NM_001267550.2(TTN):c.18028+6C>A
NM_001267550.2(TTN):c.18307+2T>C rs2154307882
NM_001267550.2(TTN):c.18317A>G (p.Gln6106Arg) rs1553921829
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys) rs1280788914
NM_001267550.2(TTN):c.18406C>T (p.Arg6136Ter) rs2154307591
NM_001267550.2(TTN):c.18411_18412insSVAelement
NM_001267550.2(TTN):c.18677C>A (p.Pro6226His) rs746345160
NM_001267550.2(TTN):c.18709_18710del (p.Arg6237fs)
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala) rs1553920950
NM_001267550.2(TTN):c.18791C>G (p.Ser6264Ter) rs2079975361
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg) rs1553920476
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val) rs1060500522
NM_001267550.2(TTN):c.19180del (p.Val6394fs) rs1560763939
NM_001267550.2(TTN):c.19229del (p.Gly6410fs) rs2079812566
NM_001267550.2(TTN):c.19237G>T (p.Glu6413Ter)
NM_001267550.2(TTN):c.19254G>A (p.Trp6418Ter) rs2154306627
NM_001267550.2(TTN):c.19306G>T (p.Glu6436Ter) rs267599063
NM_001267550.2(TTN):c.19365del (p.Gln6454_Tyr6455insTer)
NM_001267550.2(TTN):c.1938+1G>T rs774414270
NM_001267550.2(TTN):c.19426+2T>A rs727505178
NM_001267550.2(TTN):c.19458dup (p.Leu6487fs) rs2079736561
NM_001267550.2(TTN):c.19581C>A (p.Tyr6527Ter) rs746828415
NM_001267550.2(TTN):c.19601_19602del (p.Arg6534fs) rs1064796380
NM_001267550.2(TTN):c.19605del (p.Val6536fs) rs2079698337
NM_001267550.2(TTN):c.1961del (p.Thr654fs) rs2154353364
NM_001267550.2(TTN):c.1964C>A (p.Ala655Asp) rs763912778
NM_001267550.2(TTN):c.19714+1G>T rs1060500423
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) rs794727829
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu) rs1362220931
NM_001267550.2(TTN):c.19992A>G (p.Thr6664=) rs1560749476
NM_001267550.2(TTN):c.19993+5G>A rs907914759
NM_001267550.2(TTN):c.19994-7T>G rs1292778822
NM_001267550.2(TTN):c.20008del (p.Phe6669_Val6670insTer)
NM_001267550.2(TTN):c.20035G>A (p.Val6679Met) rs1553917765
NM_001267550.2(TTN):c.20185A>G (p.Asn6729Asp) rs794729619
NM_001267550.2(TTN):c.20276-1G>C rs2154304651
NM_001267550.2(TTN):c.20276-5del rs779654489
NM_001267550.2(TTN):c.20324del (p.Asn6775fs) rs1578084690
NM_001267550.2(TTN):c.20402_20405del (p.Leu6801fs)
NM_001267550.2(TTN):c.20438del (p.Asn6813fs) rs2154304574
NM_001267550.2(TTN):c.20441_20448del (p.Asn6813_Phe6814insTer) rs2154304568
NM_001267550.2(TTN):c.20455C>T (p.His6819Tyr) rs1553916130
NM_001267550.2(TTN):c.20484C>G (p.Ile6828Met) rs563320328
NM_001267550.2(TTN):c.20622del (p.Ala6875fs) rs2079200580
NM_001267550.2(TTN):c.20626T>A (p.Ser6876Thr) rs1359024577
NM_001267550.2(TTN):c.20667del (p.Glu6890fs)
NM_001267550.2(TTN):c.20707A>G (p.Ile6903Val) rs571675433
NM_001267550.2(TTN):c.20719del (p.Glu6907fs)
NM_001267550.2(TTN):c.20738del (p.Gln6913fs) rs2154304293
NM_001267550.2(TTN):c.2073A>T (p.Gly691=) rs72647860
NM_001267550.2(TTN):c.2076G>A (p.Lys692=) rs1333188525
NM_001267550.2(TTN):c.20836+2T>C rs776932740
NM_001267550.2(TTN):c.20837-1G>A rs1553914337
NM_001267550.2(TTN):c.2083G>T (p.Val695Phe) rs747479318
NM_001267550.2(TTN):c.2086G>T (p.Gly696Ter)
NM_001267550.2(TTN):c.2093del (p.Lys698fs) rs2154351778
NM_001267550.2(TTN):c.209del (p.Val70fs) rs2094105154
NM_001267550.2(TTN):c.21006del (p.Ser7003fs)
NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)
NM_001267550.2(TTN):c.21114A>C (p.Ser7038=) rs879237670
NM_001267550.2(TTN):c.21220del (p.Ser7074fs) rs2078907250
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys) rs773211607
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp) rs786205315
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.21403+2T>G
NM_001267550.2(TTN):c.21403+5G>A rs1560709207
NM_001267550.2(TTN):c.21403G>A (p.Glu7135Lys) rs779787316
NM_001267550.2(TTN):c.21404-1G>C
NM_001267550.2(TTN):c.21404-3_21404-1delinsA rs2078833835
NM_001267550.2(TTN):c.21488C>A (p.Thr7163Asn) rs370324138
NM_001267550.2(TTN):c.21507del (p.Trp7170fs) rs1578046154
NM_001267550.2(TTN):c.2162G>C (p.Gly721Ala) rs1554022851
NM_001267550.2(TTN):c.21641A>G (p.Asn7214Ser) rs755600935
NM_001267550.2(TTN):c.21683-2A>G
NM_001267550.2(TTN):c.21705A>T (p.Arg7235Ser) rs772506057
NM_001267550.2(TTN):c.21788G>A (p.Trp7263Ter)
NM_001267550.2(TTN):c.21799G>A (p.Gly7267Ser) rs772450876
NM_001267550.2(TTN):c.21833_21834del (p.Ile7278fs) rs2154302656
NM_001267550.2(TTN):c.21907G>C (p.Glu7303Gln) rs774950387
NM_001267550.2(TTN):c.21912del (p.Ile7304fs) rs2078700148
NM_001267550.2(TTN):c.21914A>C (p.Glu7305Ala) rs1553911785
NM_001267550.2(TTN):c.21961+1G>C rs2078690809
NM_001267550.2(TTN):c.21964C>T (p.Pro7322Ser) rs1553911632
NM_001267550.2(TTN):c.22024T>G (p.Leu7342Val) rs1243764269
NM_001267550.2(TTN):c.22027C>T (p.Gln7343Ter) rs886043434
NM_001267550.2(TTN):c.22034_22037del (p.Gln7345fs)
NM_001267550.2(TTN):c.22039G>A (p.Ala7347Thr) rs1553911494
NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer) rs794727888
NM_001267550.2(TTN):c.22240+1G>A rs2078612090
NM_001267550.2(TTN):c.22273_22276del (p.Leu7425fs) rs1553910811
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val) rs267607157
NM_001267550.2(TTN):c.22293_22303del (p.Val7432fs) rs1560692247
NM_001267550.2(TTN):c.22309dup (p.Thr7437fs) rs2154302053
NM_001267550.2(TTN):c.22321C>T (p.Arg7441Ter)
NM_001267550.2(TTN):c.22343T>C (p.Ile7448Thr) rs878854293
NM_001267550.2(TTN):c.22356G>A (p.Trp7452Ter) rs2078556781
NM_001267550.2(TTN):c.22384_22385delinsCG (p.Asp7462Arg) rs1060500493
NM_001267550.2(TTN):c.22427T>A (p.Leu7476Ter)
NM_001267550.2(TTN):c.22528+4del rs1578022549
NM_001267550.2(TTN):c.22528G>T (p.Glu7510Ter)
NM_001267550.2(TTN):c.22693T>C (p.Cys7565Arg) rs757611239
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs) rs2154301477
NM_001267550.2(TTN):c.22725_22726insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTCTTCTGCGTCGCTCACGTTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCGAGAATTCTT (p.Lys7576delinsPhePhePhePhePhePheXaaXaaXaaXaaProSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGluAsnSerTer) rs2154301480
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs) rs1211248610
NM_001267550.2(TTN):c.22888T>C (p.Cys7630Arg) rs1553908536
NM_001267550.2(TTN):c.22907del (p.Pro7636fs) rs2078291953
NM_001267550.2(TTN):c.23000C>G (p.Thr7667Arg) rs374430623
NM_001267550.2(TTN):c.23068G>T (p.Ala7690Ser) rs763029699
NM_001267550.2(TTN):c.23098+1G>T rs2154300949
NM_001267550.2(TTN):c.23098+3del rs2154300948
NM_001267550.2(TTN):c.23204G>A (p.Trp7735Ter)
NM_001267550.2(TTN):c.2320G>A (p.Glu774Lys) rs1554022511
NM_001267550.2(TTN):c.23273dup (p.Ser7758fs) rs2154300674
NM_001267550.2(TTN):c.23305G>A (p.Val7769Ile) rs1553907172
NM_001267550.2(TTN):c.23369dup (p.Phe7791fs)
NM_001267550.2(TTN):c.23373C>A (p.Phe7791Leu) rs1553907020
NM_001267550.2(TTN):c.23377+2T>C rs2154300619
NM_001267550.2(TTN):c.23399dup (p.Leu7801fs)
NM_001267550.2(TTN):c.2341G>T (p.Asp781Tyr) rs1554022470
NM_001267550.2(TTN):c.23443C>T (p.Arg7815Trp) rs528264100
NM_001267550.2(TTN):c.23467C>A (p.Pro7823Thr) rs768540966
NM_001267550.2(TTN):c.23608dup (p.Ile7870fs) rs2154300414
NM_001267550.2(TTN):c.23660-13CTT[2] rs563250569
NM_001267550.2(TTN):c.23694G>A (p.Met7898Ile) rs751897366
NM_001267550.2(TTN):c.2370+5G>A
NM_001267550.2(TTN):c.2370+5G>C rs1554022409
NM_001267550.2(TTN):c.2370G>A (p.Gln790=)
NM_001267550.2(TTN):c.2371-2A>G
NM_001267550.2(TTN):c.23729G>T (p.Cys7910Phe) rs763596594
NM_001267550.2(TTN):c.23797A>G (p.Ser7933Gly) rs1553905723
NM_001267550.2(TTN):c.23811del (p.Thr7938fs)
NM_001267550.2(TTN):c.23817C>G (p.Phe7939Leu) rs866647945
NM_001267550.2(TTN):c.23939-1G>T
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs) rs1060500528
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met) rs1060500564
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.23996G>C (p.Gly7999Ala) rs750389762
NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter) rs794727941
NM_001267550.2(TTN):c.24037C>A (p.Pro8013Thr) rs1553904936
NM_001267550.2(TTN):c.24075del (p.Ile8025fs) rs2154300014
NM_001267550.2(TTN):c.24137T>C (p.Leu8046Ser) rs1553904761
NM_001267550.2(TTN):c.24226+5G>T rs2077956888
NM_001267550.2(TTN):c.24226G>A (p.Glu8076Lys)
NM_001267550.2(TTN):c.24227-2A>G
NM_001267550.2(TTN):c.24244C>T (p.Gln8082Ter)
NM_001267550.2(TTN):c.24253G>A (p.Asp8085Asn) rs1553904192
NM_001267550.2(TTN):c.2435C>T (p.Ala812Val) rs372040052
NM_001267550.2(TTN):c.24385G>T (p.Glu8129Ter) rs727504843
NM_001267550.2(TTN):c.24447_24450del (p.Cys8150fs) rs2077885583
NM_001267550.2(TTN):c.24697del (p.Ser8233fs)
NM_001267550.2(TTN):c.24708_24710del (p.Glu8236del) rs771555243
NM_001267550.2(TTN):c.24784+3G>A rs2154299473
NM_001267550.2(TTN):c.24811G>T (p.Glu8271Ter)
NM_001267550.2(TTN):c.24865G>T (p.Gly8289Ter) rs1577954678
NM_001267550.2(TTN):c.24890G>A (p.Trp8297Ter) rs2154299355
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.24946_24947delinsT (p.Asn8316fs) rs1577952992
NM_001267550.2(TTN):c.24962T>C (p.Leu8321Ser) rs1577952583
NM_001267550.2(TTN):c.24972C>A (p.Asn8324Lys) rs879030954
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg) rs2154299294
NM_001267550.2(TTN):c.2502A>G (p.Ile834Met) rs752214647
NM_001267550.2(TTN):c.25037C>T (p.Ala8346Val) rs747055472
NM_001267550.2(TTN):c.25063+1G>A rs754247415
NM_001267550.2(TTN):c.25063+5T>A rs1553902318
NM_001267550.2(TTN):c.25064-1G>A
NM_001267550.2(TTN):c.25064-2A>G
NM_001267550.2(TTN):c.2506G>T (p.Gly836Cys) rs751157908
NM_001267550.2(TTN):c.25105G>A (p.Val8369Ile) rs755722481
NM_001267550.2(TTN):c.25117_25118del (p.Leu8373fs) rs2077711392
NM_001267550.2(TTN):c.25154G>C (p.Gly8385Ala) rs775560531
NM_001267550.2(TTN):c.25249C>T (p.Leu8417Phe) rs774234445
NM_001267550.2(TTN):c.25270C>G (p.Gln8424Glu) rs370668637
NM_001267550.2(TTN):c.25351+4A>G
NM_001267550.2(TTN):c.25351+5G>A
NM_001267550.2(TTN):c.25476T>A (p.Asp8492Glu) rs777349143
NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter) rs794727945
NM_001267550.2(TTN):c.2557C>T (p.Gln853Ter)
NM_001267550.2(TTN):c.25600G>T (p.Ala8534Ser) rs779163897
NM_001267550.2(TTN):c.25639+2T>C rs769452066
NM_001267550.2(TTN):c.25639G>C (p.Glu8547Gln) rs1060500447
NM_001267550.2(TTN):c.25662_25663delinsTT (p.Lys8554Asn) rs1553898915
NM_001267550.2(TTN):c.25707_25708inv (p.Glu8570Lys)
NM_001267550.2(TTN):c.25739_25740del (p.Lys8580fs)
NM_001267550.2(TTN):c.2575del (p.Ser858_Val859insTer)
NM_001267550.2(TTN):c.25765G>T (p.Glu8589Ter)
NM_001267550.2(TTN):c.25921G>A (p.Glu8641Lys) rs1553898323
NM_001267550.2(TTN):c.25922-1G>C rs2154297723
NM_001267550.2(TTN):c.25937G>T (p.Arg8646Leu) rs144587343
NM_001267550.2(TTN):c.25971A>T (p.Gly8657=) rs1060500547
NM_001267550.2(TTN):c.2601dup (p.Glu868Ter)
NM_001267550.2(TTN):c.26028G>A (p.Trp8676Ter) rs794729389
NM_001267550.2(TTN):c.26028del (p.Trp8676fs) rs758533436
NM_001267550.2(TTN):c.26068A>C (p.Lys8690Gln) rs1060500411
NM_001267550.2(TTN):c.26081A>C (p.Glu8694Ala) rs1553897407
NM_001267550.2(TTN):c.26093C>G (p.Thr8698Ser) rs1060500461
NM_001267550.2(TTN):c.26118_26119del (p.Ala8707fs) rs2077273106
NM_001267550.2(TTN):c.26144G>T (p.Cys8715Phe) rs183499397
NM_001267550.2(TTN):c.26170G>A (p.Asp8724Asn) rs756034176
NM_001267550.2(TTN):c.26189T>A (p.Ile8730Asn) rs1060500488
NM_001267550.2(TTN):c.26240del (p.Thr8747fs) rs1553896398
NM_001267550.2(TTN):c.26261A>T (p.Gln8754Leu) rs1060500568
NM_001267550.2(TTN):c.26287G>T (p.Glu8763Ter) rs2077159790
NM_001267550.2(TTN):c.2628del (p.Leu878fs)
NM_001267550.2(TTN):c.2640_2656del (p.Gln880fs)
NM_001267550.2(TTN):c.26482+1G>A rs1440418037
NM_001267550.2(TTN):c.26482+5G>A rs1060500590
NM_001267550.2(TTN):c.26574_26581dup (p.Thr8861fs) rs2077097661
NM_001267550.2(TTN):c.26624A>T (p.Lys8875Ile)
NM_001267550.2(TTN):c.26719C>T (p.Pro8907Ser) rs764261158
NM_001267550.2(TTN):c.26762-39TTTGT[3] rs71393436
NM_001267550.2(TTN):c.26762-9delins34
NM_001267550.2(TTN):c.26764C>T (p.Arg8922Ter) rs1250796004
NM_001267550.2(TTN):c.26800G>T (p.Glu8934Ter)
NM_001267550.2(TTN):c.26905_26906del (p.Gly8969fs) rs2154296494
NM_001267550.2(TTN):c.26952del (p.Thr8984_Val8985insTer)
NM_001267550.2(TTN):c.27030T>A (p.Ser9010Arg) rs774115714
NM_001267550.2(TTN):c.27121A>G (p.Ile9041Val) rs1395755933
NM_001267550.2(TTN):c.27168del (p.Ser9056fs) rs2076867354
NM_001267550.2(TTN):c.2716A>G (p.Ile906Val) rs1304074202
NM_001267550.2(TTN):c.27224_27228del (p.Glu9075fs) rs1553892376
NM_001267550.2(TTN):c.27310_27314del (p.Thr9104fs)
NM_001267550.2(TTN):c.27328+1del
NM_001267550.2(TTN):c.27328G>A (p.Ala9110Thr) rs2076840796
NM_001267550.2(TTN):c.27382C>A (p.Pro9128Thr) rs1283675898
NM_001267550.2(TTN):c.27385dup (p.Leu9129fs)
NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro) rs376922544
NM_001267550.2(TTN):c.27466C>T (p.Gln9156Ter) rs2076800953
NM_001267550.2(TTN):c.27495dup (p.Ser9166fs)
NM_001267550.2(TTN):c.27513del (p.Pro9172fs) rs794729378
NM_001267550.2(TTN):c.27532G>T (p.Asp9178Tyr) rs727504202
NM_001267550.2(TTN):c.27607+5G>A rs2154295977
NM_001267550.2(TTN):c.27713G>A (p.Trp9238Ter)
NM_001267550.2(TTN):c.27714G>A (p.Trp9238Ter)
NM_001267550.2(TTN):c.2775+1G>T rs1057346353
NM_001267550.2(TTN):c.27765del (p.Phe9255fs)
NM_001267550.2(TTN):c.27856G>C (p.Val9286Leu) rs777547707
NM_001267550.2(TTN):c.27886+1G>T rs2076721233
NM_001267550.2(TTN):c.27886+3G>A rs750753011
NM_001267550.2(TTN):c.278C>G (p.Ala93Gly) rs1473207810
NM_001267550.2(TTN):c.27976G>T (p.Gly9326Ter)
NM_001267550.2(TTN):c.28032C>A (p.Ser9344Arg) rs1338895544
NM_001267550.2(TTN):c.28034C>T (p.Pro9345Leu) rs878854296
NM_001267550.2(TTN):c.2812del (p.Ile938fs)
NM_001267550.2(TTN):c.28131C>A (p.Asn9377Lys) rs72648997
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys) rs760466007
NM_001267550.2(TTN):c.2824C>T (p.Pro942Ser) rs1060500550
NM_001267550.2(TTN):c.28328A>T (p.Tyr9443Phe) rs1553888051
NM_001267550.2(TTN):c.28379del (p.Asp9460fs)
NM_001267550.2(TTN):c.28391C>T (p.Ser9464Phe) rs1553887984
NM_001267550.2(TTN):c.2841+1G>C rs2154350493
NM_001267550.2(TTN):c.2841G>T (p.Ser947=) rs774074192
NM_001267550.2(TTN):c.28433A>C (p.Asp9478Ala) rs1553887887
NM_001267550.2(TTN):c.28469_28488del (p.Leu9490fs)
NM_001267550.2(TTN):c.28480A>T (p.Ser9494Cys) rs1553886767
NM_001267550.2(TTN):c.28499C>G (p.Ser9500Ter) rs2154294487
NM_001267550.2(TTN):c.28524del (p.Asn9509fs) rs1489175898
NM_001267550.2(TTN):c.28667C>T (p.Ala9556Val) rs1060500482
NM_001267550.2(TTN):c.28674G>C (p.Met9558Ile) rs868771235
NM_001267550.2(TTN):c.2868del (p.Gly957fs) rs794729355
NM_001267550.2(TTN):c.28726C>G (p.Leu9576Val) rs780753483
NM_001267550.2(TTN):c.28753+1G>A
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly) rs200856239
NM_001267550.2(TTN):c.28795G>A (p.Val9599Ile) rs887090503
NM_001267550.2(TTN):c.2882C>G (p.Thr961Ser) rs1554018432
NM_001267550.2(TTN):c.28908C>A (p.Cys9636Ter) rs1553883443
NM_001267550.2(TTN):c.28909_28922del (p.Cys9636_Ser9637insTer)
NM_001267550.2(TTN):c.28993del (p.Ser9665fs)
NM_001267550.2(TTN):c.29024C>A (p.Ser9675Ter) rs886042115
NM_001267550.2(TTN):c.29042-2del rs2075975847
NM_001267550.2(TTN):c.29048C>T (p.Pro9683Leu) rs794729399
NM_001267550.2(TTN):c.29070dup (p.Lys9691fs)
NM_001267550.2(TTN):c.2907C>A (p.Tyr969Ter)
NM_001267550.2(TTN):c.29099_29100del (p.Phe9700fs)
NM_001267550.2(TTN):c.29100dup (p.Val9701fs) rs796065340
NM_001267550.2(TTN):c.29134+3A>G rs2154292612
NM_001267550.2(TTN):c.29185G>T (p.Val9729Phe) rs1060500451
NM_001267550.2(TTN):c.29193G>A (p.Trp9731Ter)
NM_001267550.2(TTN):c.29212_29218del (p.Gln9738fs) rs2154292470
NM_001267550.2(TTN):c.29230C>G (p.Arg9744Gly) rs375266859
NM_001267550.2(TTN):c.29240_29241del (p.Ile9747fs)
NM_001267550.2(TTN):c.29334del (p.Glu9779fs)
NM_001267550.2(TTN):c.2941_2942insC (p.Tyr981fs) rs2154350090
NM_001267550.2(TTN):c.2943C>A (p.Tyr981Ter)
NM_001267550.2(TTN):c.29440G>T (p.Gly9814Ter)
NM_001267550.2(TTN):c.29464G>T (p.Asp9822Tyr) rs758873870
NM_001267550.2(TTN):c.29512_29513insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAATATGAAAAAT (p.Tyr9838delinsTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysArgIleTer) rs2154291624
NM_001267550.2(TTN):c.29597A>G (p.His9866Arg) rs878919397
NM_001267550.2(TTN):c.29599A>T (p.Arg9867Ter)
NM_001267550.2(TTN):c.29694+5A>T
NM_001267550.2(TTN):c.29695-1G>T
NM_001267550.2(TTN):c.29729C>T (p.Thr9910Ile) rs878854297
NM_001267550.2(TTN):c.2980_2995del (p.Gln994fs)
NM_001267550.2(TTN):c.29857G>A (p.Gly9953Ser) rs770212603
NM_001267550.2(TTN):c.29965C>A (p.Pro9989Thr) rs1553877891
NM_001267550.2(TTN):c.29984T>A (p.Leu9995His) rs1060500554
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.3007dup (p.Arg1003fs) rs1574771625
NM_001267550.2(TTN):c.30091dup (p.Gln10031fs) rs1553877628
NM_001267550.2(TTN):c.30139A>T (p.Ile10047Phe) rs1553877530
NM_001267550.2(TTN):c.30223+1G>T
NM_001267550.2(TTN):c.30223+3G>A
NM_001267550.2(TTN):c.30223G>C (p.Ala10075Pro)
NM_001267550.2(TTN):c.30299A>C (p.Glu10100Ala) rs1060500579
NM_001267550.2(TTN):c.302C>T (p.Thr101Ile) rs879185669
NM_001267550.2(TTN):c.30325A>C (p.Thr10109Pro) rs2075197256
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.30356_30359del (p.Glu10119fs) rs2154290001
NM_001267550.2(TTN):c.30358_30359del (p.Ser10120fs) rs2154290001
NM_001267550.2(TTN):c.30433+2T>G rs1060500504
NM_001267550.2(TTN):c.30433+3G>C
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile) rs1553875094
NM_001267550.2(TTN):c.30476del (p.Ala10159fs) rs2154289805
NM_001267550.2(TTN):c.30487del (p.Ala10163fs) rs1560498923
NM_001267550.2(TTN):c.30515T>A (p.Ile10172Asn) rs772028677
NM_001267550.2(TTN):c.30538+5G>A
NM_001267550.2(TTN):c.30538G>C (p.Asp10180His)
NM_001267550.2(TTN):c.30583G>T (p.Ala10195Ser) rs1060500585
NM_001267550.2(TTN):c.30598+1G>C rs2075001826
NM_001267550.2(TTN):c.30598+4A>T rs1560494355
NM_001267550.2(TTN):c.30598G>T (p.Glu10200Ter)
NM_001267550.2(TTN):c.30599-1G>A rs1338491963
NM_001267550.2(TTN):c.30683-1G>A
NM_001267550.2(TTN):c.30694G>T (p.Ala10232Ser) rs747294929
NM_001267550.2(TTN):c.30754+1G>T rs914288774
NM_001267550.2(TTN):c.30781A>G (p.Thr10261Ala) rs1060500409
NM_001267550.2(TTN):c.30889G>T (p.Glu10297Ter)
NM_001267550.2(TTN):c.30899A>G (p.Tyr10300Cys) rs1553864504
NM_001267550.2(TTN):c.30963T>A (p.Tyr10321Ter) rs1167073084
NM_001267550.2(TTN):c.30967G>T (p.Glu10323Ter) rs1425322355
NM_001267550.2(TTN):c.30989_30990del (p.Thr10330fs) rs2073652081
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala) rs757869762
NM_001267550.2(TTN):c.3100+5G>A rs794729294
NM_001267550.2(TTN):c.3101-1G>A rs2092877322
NM_001267550.2(TTN):c.3101-2A>T rs1060500467
NM_001267550.2(TTN):c.31048G>A (p.Val10350Ile) rs1553864204
NM_001267550.2(TTN):c.3109G>T (p.Glu1037Ter)
NM_001267550.2(TTN):c.31164C>A (p.Tyr10388Ter) rs794727040
NM_001267550.2(TTN):c.31207+5G>A rs876658051
NM_001267550.2(TTN):c.31207+5G>C
NM_001267550.2(TTN):c.31270G>T (p.Val10424Phe) rs1352290576
NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp) rs374555701
NM_001267550.2(TTN):c.31426G>T (p.Val10476Leu)
NM_001267550.2(TTN):c.31479del (p.Phe10493fs)
NM_001267550.2(TTN):c.31486C>G (p.His10496Asp) rs1553860465
NM_001267550.2(TTN):c.31513+1G>A rs1553860401
NM_001267550.2(TTN):c.31525C>A (p.Gln10509Lys) rs1553859889
NM_001267550.2(TTN):c.31563_31564inv (p.Ile10522Val)
NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe) rs763955552
NM_001267550.2(TTN):c.31656dup (p.Val10553fs)
NM_001267550.2(TTN):c.31669G>T (p.Ala10557Ser) rs1553857863
NM_001267550.2(TTN):c.31669_31670del (p.Ala10557fs)
NM_001267550.2(TTN):c.31679-1G>A
NM_001267550.2(TTN):c.31718del (p.Lys10573fs) rs2154280109
NM_001267550.2(TTN):c.31735A>T (p.Lys10579Ter)
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala) rs768652249
NM_001267550.2(TTN):c.31757C>T (p.Pro10586Leu) rs200459347
NM_001267550.2(TTN):c.31762+4C>G rs368538884
NM_001267550.2(TTN):c.31762+5G>T rs145387989
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.31927+1G>T rs1553852989
NM_001267550.2(TTN):c.31927+3A>C
NM_001267550.2(TTN):c.32005C>A (p.Pro10669Thr) rs945424720
NM_001267550.2(TTN):c.32005C>T (p.Pro10669Ser) rs945424720
NM_001267550.2(TTN):c.32012-1G>T rs2154278075
NM_001267550.2(TTN):c.32018C>G (p.Ala10673Gly) rs773935335
NM_001267550.2(TTN):c.32090_32095+21del
NM_001267550.2(TTN):c.32095+3A>G
NM_001267550.2(TTN):c.32095+5G>C rs869312090
NM_001267550.2(TTN):c.32096-1G>T
NM_001267550.2(TTN):c.32096-4_32117del rs1560398348
NM_001267550.2(TTN):c.32135_32136dup (p.Val10713fs)
NM_001267550.2(TTN):c.32161G>T (p.Ala10721Ser) rs753365187
NM_001267550.2(TTN):c.32164G>A (p.Val10722Ile) rs763742779
NM_001267550.2(TTN):c.32189G>C (p.Arg10730Pro) rs771054923
NM_001267550.2(TTN):c.32311+1G>T rs1577433734
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met) rs549877654
NM_001267550.2(TTN):c.32312-1G>C rs2070649864
NM_001267550.2(TTN):c.32332del (p.Tyr10778fs) rs2070642658
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_001267550.2(TTN):c.32446dup (p.Ile10816fs) rs2154275355
NM_001267550.2(TTN):c.32470+1G>T
NM_001267550.2(TTN):c.32554+1G>A rs376018437
NM_001267550.2(TTN):c.32554+1G>T rs376018437
NM_001267550.2(TTN):c.32554+5_32554+6del rs771419718
NM_001267550.2(TTN):c.32639-2A>C rs2154274686
NM_001267550.2(TTN):c.32656C>T (p.Gln10886Ter)
NM_001267550.2(TTN):c.32703_33665-50del
NM_001267550.2(TTN):c.32761G>C (p.Val10921Leu) rs775126784
NM_001267550.2(TTN):c.32806G>A (p.Val10936Met)
NM_001267550.2(TTN):c.32879C>A (p.Pro10960His) rs879029800
NM_001267550.2(TTN):c.32883_32887+6del
NM_001267550.2(TTN):c.32887+1G>A rs546105899
NM_001267550.2(TTN):c.32887+2T>C rs2154273077
NM_001267550.2(TTN):c.32888-1del rs869312041
NM_001267550.2(TTN):c.32899A>G (p.Met10967Val) rs1392264858
NM_001267550.2(TTN):c.32930AAG[2] (p.Glu10979del) rs774683936
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.33064C>T (p.Arg11022Ter) rs747806875
NM_001267550.2(TTN):c.33083_33086dup (p.Tyr11029Ter) rs2154271814
NM_001267550.2(TTN):c.33094G>A (p.Glu11032Lys) rs2154271806
NM_001267550.2(TTN):c.3309C>A (p.Cys1103Ter) rs1467686861
NM_001267550.2(TTN):c.3310C>T (p.Gln1104Ter)
NM_001267550.2(TTN):c.33172G>A (p.Val11058Met)
NM_001267550.2(TTN):c.33173-1G>A rs794729256
NM_001267550.2(TTN):c.33215T>G (p.Ile11072Ser) rs1553836426
NM_001267550.2(TTN):c.33247+2T>A
NM_001267550.2(TTN):c.33283dup (p.Ile11095fs)
NM_001267550.2(TTN):c.33289_33290del (p.Ile11097fs)
NM_001267550.2(TTN):c.33339A>G (p.Lys11113=) rs926306750
NM_001267550.2(TTN):c.33340+1dup rs794729310
NM_001267550.2(TTN):c.33340G>T (p.Val11114Leu) rs1328375389
NM_001267550.2(TTN):c.33344C>A (p.Pro11115His) rs1060500394
NM_001267550.2(TTN):c.33377A>C (p.Lys11126Thr) rs760742068
NM_001267550.2(TTN):c.33417_33418+1del rs2069047923
NM_001267550.2(TTN):c.3344G>A (p.Trp1115Ter) rs2154349662
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.33569T>C (p.Ile11190Thr)
NM_001267550.2(TTN):c.33580+1G>A rs2068947933
NM_001267550.2(TTN):c.33580+2T>C
NM_001267550.2(TTN):c.33581-2A>T
NM_001267550.2(TTN):c.33648del (p.Ala11217fs)
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu) rs757268986
NM_001267550.2(TTN):c.33710_33725del (p.Ile11237fs) rs2154269652
NM_001267550.2(TTN):c.33742+3A>G
NM_001267550.2(TTN):c.33742+5A>C rs2068798031
NM_001267550.2(TTN):c.33742G>A (p.Val11248Ile) rs996345107
NM_001267550.2(TTN):c.33775G>A (p.Glu11259Lys) rs1060500563
NM_001267550.2(TTN):c.337A>G (p.Met113Val) rs1060500430
NM_001267550.2(TTN):c.33817_33826+8del rs2154269293
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.33826G>A (p.Val11276Met)
NM_001267550.2(TTN):c.33827-1G>A rs2068604683
NM_001267550.2(TTN):c.33892G>T (p.Glu11298Ter)
NM_001267550.2(TTN):c.3396C>A (p.Tyr1132Ter)
NM_001267550.2(TTN):c.34022_34041del (p.Val11341fs)
NM_001267550.2(TTN):c.34039C>T (p.Gln11347Ter) rs2154268786
NM_001267550.2(TTN):c.3404_3407dup (p.Gly1137fs) rs2154348982
NM_001267550.2(TTN):c.34075C>G (p.Pro11359Ala) rs1060500464
NM_001267550.2(TTN):c.34080del (p.Glu11361fs)
NM_001267550.2(TTN):c.34093_34102del (p.Pro11365fs) rs1553823547
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3]) rs397517548
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[4] (p.11363VLPEEEE[6]) rs397517548
NM_001267550.2(TTN):c.34108G>A (p.Val11370Ile) rs1060500545
NM_001267550.2(TTN):c.3417C>A (p.Cys1139Ter)
NM_001267550.2(TTN):c.34207G>T (p.Glu11403Ter) rs878921943
NM_001267550.2(TTN):c.34225G>A (p.Glu11409Lys) rs770657053
NM_001267550.2(TTN):c.34247_34248delinsTC (p.Glu11416Val) rs1060500408
NM_001267550.2(TTN):c.34258G>T (p.Glu11420Ter)
NM_001267550.2(TTN):c.34378+1del rs1462972904
NM_001267550.2(TTN):c.34379-3A>T rs1060500497
NM_001267550.2(TTN):c.34400T>C (p.Val11467Ala) rs981211046
NM_001267550.2(TTN):c.34402_34416del (p.Thr11468_Val11472del) rs754236839
NM_001267550.2(TTN):c.34486A>G (p.Lys11496Glu) rs1034048129
NM_001267550.2(TTN):c.34486A>T (p.Lys11496Ter)
NM_001267550.2(TTN):c.3457G>T (p.Glu1153Ter) rs2092730732
NM_001267550.2(TTN):c.34592A>G (p.Glu11531Gly) rs1553815943
NM_001267550.2(TTN):c.34612+2T>C rs1577253441
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.34684G>A (p.Val11562Ile) rs1060500397
NM_001267550.2(TTN):c.34709-1G>A rs727503634
NM_001267550.2(TTN):c.34742C>T (p.Ala11581Val) rs1060500436
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His) rs149883066
NM_001267550.2(TTN):c.34786+1G>T rs879010418
NM_001267550.2(TTN):c.34786+3del
NM_001267550.2(TTN):c.34786G>A (p.Val11596Met) rs794729415
NM_001267550.2(TTN):c.34812del (p.Val11605fs)
NM_001267550.2(TTN):c.34816C>T (p.Pro11606Ser) rs1553810609
NM_001267550.2(TTN):c.34823C>T (p.Pro11608Leu) rs1553810583
NM_001267550.2(TTN):c.34823del (p.Pro11608fs)
NM_001267550.2(TTN):c.34855G>A (p.Val11619Met) rs1560262245
NM_001267550.2(TTN):c.34863del (p.Val11622fs)
NM_001267550.2(TTN):c.34931-10G>A rs1553809647
NM_001267550.2(TTN):c.34979T>C (p.Val11660Ala) rs1553809428
NM_001267550.2(TTN):c.35044del (p.Glu11682fs) rs2067110004
NM_001267550.2(TTN):c.35104T>G (p.Phe11702Val) rs1553809123
NM_001267550.2(TTN):c.35125A>T (p.Arg11709Ter)
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.35155G>T (p.Val11719Phe) rs754098075
NM_001267550.2(TTN):c.35156T>C (p.Val11719Ala) rs754536506
NM_001267550.2(TTN):c.35227+3A>G rs1577214679
NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) rs1198364572
NM_001267550.2(TTN):c.35291A>G (p.Lys11764Arg) rs1060500446
NM_001267550.2(TTN):c.35308+1G>A
NM_001267550.2(TTN):c.35308+1G>T rs1423135750
NM_001267550.2(TTN):c.35309-1G>A
NM_001267550.2(TTN):c.35346del (p.Val11783fs) rs2154263836
NM_001267550.2(TTN):c.35386+170_35397del
NM_001267550.2(TTN):c.35429del (p.Arg11810fs) rs2154263436
NM_001267550.2(TTN):c.3544A>T (p.Lys1182Ter) rs2092638111
NM_001267550.2(TTN):c.35471-9T>C rs746940707
NM_001267550.2(TTN):c.35488_35492del (p.Lys11830fs) rs1370876304
NM_001267550.2(TTN):c.3553C>T (p.Gln1185Ter)
NM_001267550.2(TTN):c.35545+1G>A rs2154263213
NM_001267550.2(TTN):c.35584G>C (p.Val11862Leu) rs1553800435
NM_001267550.2(TTN):c.35602C>T (p.Gln11868Ter)
NM_001267550.2(TTN):c.35630-1G>A
NM_001267550.2(TTN):c.35662G>A (p.Asp11888Asn) rs1356416507
NM_001267550.2(TTN):c.35675_35676del (p.Val11892fs) rs1440560303
NM_001267550.2(TTN):c.35676_35679dup (p.Ile11894fs) rs2066170360
NM_001267550.2(TTN):c.35693G>A (p.Arg11898Lys) rs1553799769
NM_001267550.2(TTN):c.35713+1G>A rs2066160245
NM_001267550.2(TTN):c.35713+1del
NM_001267550.2(TTN):c.35713+2T>A rs774814237
NM_001267550.2(TTN):c.35714-1G>C rs2154261850
NM_001267550.2(TTN):c.35739dup (p.Pro11914fs) rs968544783
NM_001267550.2(TTN):c.35797+3A>G
NM_001267550.2(TTN):c.35797G>A (p.Glu11933Lys) rs769110483
NM_001267550.2(TTN):c.35893G>T (p.Glu11965Ter)
NM_001267550.2(TTN):c.35897T>G (p.Ile11966Ser) rs1553796799
NM_001267550.2(TTN):c.35939T>C (p.Ile11980Thr) rs927982415
NM_001267550.2(TTN):c.35972T>C (p.Met11991Thr) rs1553796242
NM_001267550.2(TTN):c.35974A>T (p.Lys11992Ter)
NM_001267550.2(TTN):c.36035G>A (p.Arg12012His) rs576436744
NM_001267550.2(TTN):c.36044-2A>C
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) rs199868380
NM_001267550.2(TTN):c.36088del (p.Ser12030fs)
NM_001267550.2(TTN):c.36097del (p.Arg12033fs) rs769704822
NM_001267550.2(TTN):c.36118+3A>G
NM_001267550.2(TTN):c.36119-1G>C rs1239720687
NM_001267550.2(TTN):c.36202+1G>A
NM_001267550.2(TTN):c.36202+1G>T
NM_001267550.2(TTN):c.36202+3A>G
NM_001267550.2(TTN):c.36203-1G>T
NM_001267550.2(TTN):c.36227T>C (p.Val12076Ala) rs772990799
NM_001267550.2(TTN):c.36265del (p.Val12089fs) rs2154259826
NM_001267550.2(TTN):c.36280+1G>T
NM_001267550.2(TTN):c.36280+2T>G
NM_001267550.2(TTN):c.36280+3A>G rs2154259799
NM_001267550.2(TTN):c.36280G>A (p.Val12094Met)
NM_001267550.2(TTN):c.36280G>C (p.Val12094Leu)
NM_001267550.2(TTN):c.36280G>T (p.Val12094Leu)
NM_001267550.2(TTN):c.36342G>C (p.Lys12114Asn) rs766280406
NM_001267550.2(TTN):c.36364+2T>A
NM_001267550.2(TTN):c.36364+4dup rs949125365
NM_001267550.2(TTN):c.3637G>C (p.Glu1213Gln) rs1043395012
NM_001267550.2(TTN):c.36395_36396del (p.Glu12132fs)
NM_001267550.2(TTN):c.36448+4_36532+3del rs2154258800
NM_001267550.2(TTN):c.36507dup (p.Glu12170fs)
NM_001267550.2(TTN):c.36532+3A>G
NM_001267550.2(TTN):c.36533-1G>A
NM_001267550.2(TTN):c.365del (p.Arg122fs) rs2154359059
NM_001267550.2(TTN):c.36685A>G (p.Ser12229Gly) rs1060500531
NM_001267550.2(TTN):c.36696del (p.Glu12233fs) rs1060500458
NM_001267550.2(TTN):c.36701-6T>G rs1060500422
NM_001267550.2(TTN):c.36701-9T>G rs1060500427
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp) rs796478043
NM_001267550.2(TTN):c.36821_36822insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCNNAAAAAAAAAAAAAAAAAAAA (p.Glu12274_Lys12275insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.36982A>G (p.Thr12328Ala) rs146313925
NM_001267550.2(TTN):c.3701T>C (p.Val1234Ala) rs1060500401
NM_001267550.2(TTN):c.37029A>G (p.Pro12343=) rs200163049
NM_001267550.2(TTN):c.3717T>G (p.Tyr1239Ter)
NM_001267550.2(TTN):c.37222G>A (p.Val12408Ile) rs1553786445
NM_001267550.2(TTN):c.3729+1G>A rs781562337
NM_001267550.2(TTN):c.3729+3G>A
NM_001267550.2(TTN):c.3736C>A (p.His1246Asn) rs1554012975
NM_001267550.2(TTN):c.37373C>T (p.Pro12458Leu) rs1553782191
NM_001267550.2(TTN):c.37397C>T (p.Pro12466Leu) rs727503632
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.37447C>G (p.Pro12483Ala) rs1060500552
NM_001267550.2(TTN):c.37477G>A (p.Glu12493Lys) rs1426948805
NM_001267550.2(TTN):c.37489G>A (p.Glu12497Lys) rs1553781387
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu) rs1236045684
NM_001267550.2(TTN):c.37576A>T (p.Lys12526Ter) rs1560149950
NM_001267550.2(TTN):c.37616_37627+12del rs1560149416
NM_001267550.2(TTN):c.37651G>A (p.Val12551Ile) rs1437747405
NM_001267550.2(TTN):c.37702G>A (p.Ala12568Thr) rs1060500468
NM_001267550.2(TTN):c.37711G>A (p.Val12571Met) rs1577039412
NM_001267550.2(TTN):c.37903G>C (p.Glu12635Gln) rs749935074
NM_001267550.2(TTN):c.37949T>C (p.Val12650Ala) rs1553779318
NM_001267550.2(TTN):c.37996C>A (p.Pro12666Thr) rs201684070
NM_001267550.2(TTN):c.38000C>A (p.Ser12667Ter) rs572641259
NM_001267550.2(TTN):c.38101C>T (p.Pro12701Ser) rs1284117197
NM_001267550.2(TTN):c.38147T>A (p.Val12716Asp) rs1553777417
NM_001267550.2(TTN):c.3817G>T (p.Glu1273Ter) rs2154347744
NM_001267550.2(TTN):c.38206+6_39295+5del
NM_001267550.2(TTN):c.38230G>A (p.Glu12744Lys) rs1553777033
NM_001267550.2(TTN):c.38249A>C (p.Lys12750Thr) rs1337231554
NM_001267550.2(TTN):c.3829G>T (p.Glu1277Ter)
NM_001267550.2(TTN):c.3831_3835del (p.Glu1277fs) rs1060500558
NM_001267550.2(TTN):c.38326G>T (p.Glu12776Ter) rs2063658613
NM_001267550.2(TTN):c.3838del (p.Ala1280fs)
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.38465-8C>A rs937031915
NM_001267550.2(TTN):c.38519A>G (p.Lys12840Arg) rs1250144035
NM_001267550.2(TTN):c.38546-2del rs1486772794
NM_001267550.2(TTN):c.3854A>T (p.Glu1285Val) rs1554012705
NM_001267550.2(TTN):c.38626+4dup rs1260372587
NM_001267550.2(TTN):c.3864del (p.Val1289fs) rs2154347714
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.38708-15_38723del
NM_001267550.2(TTN):c.38708-2A>C
NM_001267550.2(TTN):c.38723AAG[1] (p.Glu12909del) rs1060500390
NM_001267550.2(TTN):c.38783C>G (p.Pro12928Arg) rs752337495
NM_001267550.2(TTN):c.38791+1G>C
NM_001267550.2(TTN):c.38792-1_38792insA
NM_001267550.2(TTN):c.38875G>T (p.Val12959Leu)
NM_001267550.2(TTN):c.38876-2A>T
NM_001267550.2(TTN):c.38879_38880inv (p.Pro12960Leu)
NM_001267550.2(TTN):c.38915T>C (p.Met12972Thr) rs1060500540
NM_001267550.2(TTN):c.39043+4T>C rs2063256186
NM_001267550.2(TTN):c.39056C>A (p.Pro13019Gln) rs763845436
NM_001267550.2(TTN):c.39057G>C (p.Pro13019=) rs371945519
NM_001267550.2(TTN):c.39058_39141del84 (p.Ala13030_Pro13057del)
NM_001267550.2(TTN):c.39059AAG[1] (p.Glu13021del) rs1298186498
NM_001267550.2(TTN):c.39127+3A>T rs2154250699
NM_001267550.2(TTN):c.39163_39166del (p.Lys13055fs) rs2063155917
NM_001267550.2(TTN):c.39201_39203dup (p.Pro13068dup) rs748388695
NM_001267550.2(TTN):c.39204del (p.Thr13069fs) rs1560106851
NM_001267550.2(TTN):c.39210del (p.Val13071fs) rs2154250499
NM_001267550.2(TTN):c.39211G>T (p.Val13071Phe) rs1334646153
NM_001267550.2(TTN):c.39289C>A (p.Pro13097Thr) rs370157162
NM_001267550.2(TTN):c.39295+1G>C
NM_001267550.2(TTN):c.39313G>T (p.Glu13105Ter)
NM_001267550.2(TTN):c.39355C>T (p.Pro13119Ser) rs2063054787
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del) rs1292233616
NM_001267550.2(TTN):c.39380-1G>C rs2063018968
NM_001267550.2(TTN):c.39407C>T (p.Pro13136Leu) rs1060500460
NM_001267550.2(TTN):c.39463+1G>C rs1553770003
NM_001267550.2(TTN):c.39463+2T>C rs1576956162
NM_001267550.2(TTN):c.39511G>A (p.Val13171Met) rs780550944
NM_001267550.2(TTN):c.39511del (p.Val13171fs)
NM_001267550.2(TTN):c.39525G>C (p.Lys13175Asn) rs1060500515
NM_001267550.2(TTN):c.39539del (p.Pro13180fs) rs2062944024
NM_001267550.2(TTN):c.39546del (p.Val13183fs)
NM_001267550.2(TTN):c.39547+3A>G rs878854370
NM_001267550.2(TTN):c.39547+4T>C rs754899622
NM_001267550.2(TTN):c.39547G>C (p.Val13183Leu) rs2154249791
NM_001267550.2(TTN):c.39563AAG[1] (p.Glu13189del) rs1553769206
NM_001267550.2(TTN):c.39580A>T (p.Lys13194Ter) rs2154249634
NM_001267550.2(TTN):c.39625+1G>C
NM_001267550.2(TTN):c.39625+2T>C rs774766702
NM_001267550.2(TTN):c.3963+1G>T rs1561325112
NM_001267550.2(TTN):c.3963+3A>G rs2092547968
NM_001267550.2(TTN):c.39709+4C>T rs1553768226
NM_001267550.2(TTN):c.39727G>T (p.Glu13243Ter)
NM_001267550.2(TTN):c.3972G>A (p.Trp1324Ter) rs1561323791
NM_001267550.2(TTN):c.39743A>T (p.Glu13248Val) rs1224909860
NM_001267550.2(TTN):c.39817+1G>C rs959064823
NM_001267550.2(TTN):c.39818-1G>C rs2062662018
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser) rs727503630
NM_001267550.2(TTN):c.39834del (p.Lys13279fs) rs886044415
NM_001267550.2(TTN):c.39862G>C (p.Val13288Leu) rs878854303
NM_001267550.2(TTN):c.39895+1G>C rs749931280
NM_001267550.2(TTN):c.39895+2T>C
NM_001267550.2(TTN):c.39943G>C (p.Val13315Leu) rs1553766447
NM_001267550.2(TTN):c.39974-1G>A
NM_001267550.2(TTN):c.39995T>G (p.Leu13332Arg) rs1424568997
NM_001267550.2(TTN):c.40057+1G>A
NM_001267550.2(TTN):c.40057+1G>C
NM_001267550.2(TTN):c.40057G>A (p.Val13353Met) rs1422486813
NM_001267550.2(TTN):c.40141+6C>A rs750448649
NM_001267550.2(TTN):c.4017G>C (p.Met1339Ile) rs1561323191
NM_001267550.2(TTN):c.40220_40222+1del rs2154245535
NM_001267550.2(TTN):c.40222+1G>A
NM_001267550.2(TTN):c.40223-1G>A
NM_001267550.2(TTN):c.40225C>T (p.Arg13409Cys) rs769146381
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.40316T>C (p.Val13439Ala) rs1553761103
NM_001267550.2(TTN):c.40342del (p.Arg13448fs)
NM_001267550.2(TTN):c.40349del (p.Pro13450fs)
NM_001267550.2(TTN):c.40404del (p.Ala13470fs)
NM_001267550.2(TTN):c.40408G>A (p.Ala13470Thr) rs2061858723
NM_001267550.2(TTN):c.40409-8C>A rs1351493193
NM_001267550.2(TTN):c.40489G>T (p.Glu13497Ter)
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.40537del (p.Glu13513fs) rs1553756349
NM_001267550.2(TTN):c.40576G>T (p.Glu13526Ter) rs1560026402
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del) rs878854304
NM_001267550.2(TTN):c.40633+3A>G
NM_001267550.2(TTN):c.40633+5G>A rs2061194221
NM_001267550.2(TTN):c.40633+5G>T
NM_001267550.2(TTN):c.40635del (p.Pro13546fs) rs2154238079
NM_001267550.2(TTN):c.40666G>A (p.Glu13556Lys) rs781066709
NM_001267550.2(TTN):c.40686del (p.Thr13563fs)
NM_001267550.2(TTN):c.40691_40713dup (p.Pro13572fs)
NM_001267550.2(TTN):c.40699_40703del (p.Arg13567fs) rs2154238027
NM_001267550.2(TTN):c.40699del (p.Arg13567fs)
NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val) rs1190002260
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.40750dup (p.Leu13584fs) rs2061028828
NM_001267550.2(TTN):c.40751_40769del (p.Leu13584fs)
NM_001267550.2(TTN):c.40760_40787-52del rs1553752889
NM_001267550.2(TTN):c.40787-2A>G
NM_001267550.2(TTN):c.40876G>C (p.Glu13626Gln)
NM_001267550.2(TTN):c.40879G>A (p.Ala13627Thr) rs1060500548
NM_001267550.2(TTN):c.40921_40922dup (p.Lys13642fs)
NM_001267550.2(TTN):c.40927+1G>A rs1553749862
NM_001267550.2(TTN):c.40927+3G>A rs2154233434
NM_001267550.2(TTN):c.40928-2A>C rs2154231706
NM_001267550.2(TTN):c.40940del (p.Lys13647fs) rs2154231664
NM_001267550.2(TTN):c.4102A>C (p.Asn1368His) rs1377114122
NM_001267550.2(TTN):c.41043del (p.Pro13682fs)
NM_001267550.2(TTN):c.41149A>C (p.Thr13717Pro) rs1553747949
NM_001267550.2(TTN):c.41152A>T (p.Thr13718Ser) rs562561380
NM_001267550.2(TTN):c.41222_41223del (p.Arg13741fs) rs1436937190
NM_001267550.2(TTN):c.41254G>A (p.Asp13752Asn) rs1349773180
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro) rs1060500425
NM_001267550.2(TTN):c.41275_41276del (p.Val13759fs) rs1576745536
NM_001267550.2(TTN):c.41326dup (p.Glu13776fs) rs2154231011
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.41329+2T>G rs1553747489
NM_001267550.2(TTN):c.41329+2dup
NM_001267550.2(TTN):c.41330-1G>T rs2154230691
NM_001267550.2(TTN):c.41367dup (p.Val13790fs)
NM_001267550.2(TTN):c.41415_41418del (p.Asn13805fs) rs1576741993
NM_001267550.2(TTN):c.41432del (p.Val13811fs) rs2060408539
NM_001267550.2(TTN):c.41434dup (p.Trp13812fs) rs2060408311
NM_001267550.2(TTN):c.41436G>A (p.Trp13812Ter) rs2060408042
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.41542G>A (p.Gly13848Arg) rs1553746427
NM_001267550.2(TTN):c.41548T>C (p.Tyr13850His) rs774281208
NM_001267550.2(TTN):c.41581G>T (p.Glu13861Ter) rs2154230108
NM_001267550.2(TTN):c.41582A>C (p.Glu13861Ala) rs1553746267
NM_001267550.2(TTN):c.41608+4A>C rs2154230052
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.41609-2A>G rs730880244
NM_001267550.2(TTN):c.41768T>A (p.Ile13923Lys) rs1553745511
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter) rs794729380
NM_001267550.2(TTN):c.41794del (p.Leu13932fs) rs2060330825
NM_001267550.2(TTN):c.41817del (p.Glu13940fs) rs2154229464
NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu) rs1554011657
NM_001267550.2(TTN):c.41962_41963del (p.Ile13988fs)
NM_001267550.2(TTN):c.42003A>T (p.Gly14001=) rs1553744821
NM_001267550.2(TTN):c.42024+1G>C rs2154228980
NM_001267550.2(TTN):c.42024del (p.Thr14009fs) rs2060282891
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser) rs367751077
NM_001267550.2(TTN):c.42054dup (p.Arg14019fs) rs1559977271
NM_001267550.2(TTN):c.42097G>T (p.Glu14033Ter) rs2154228367
NM_001267550.2(TTN):c.42103C>T (p.Leu14035Phe) rs1433887768
NM_001267550.2(TTN):c.42108C>G (p.Tyr14036Ter) rs1311474144
NM_001267550.2(TTN):c.42151+3A>G rs770439451
NM_001267550.2(TTN):c.42152-7_42153del rs1559975119
NM_001267550.2(TTN):c.4216_4219del (p.Ser1406fs) rs2154346896
NM_001267550.2(TTN):c.42181A>T (p.Lys14061Ter)
NM_001267550.2(TTN):c.4218_4219del (p.Pro1407fs)
NM_001267550.2(TTN):c.42202dup (p.Arg14068fs) rs1559974529
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.42235del (p.Arg14079fs) rs2154227519
NM_001267550.2(TTN):c.42281C>G (p.Ser14094Ter)
NM_001267550.2(TTN):c.42319_42322dup (p.Ile14108fs) rs2060173229
NM_001267550.2(TTN):c.42343C>T (p.Gln14115Ter) rs2060169705
NM_001267550.2(TTN):c.42355dup (p.Glu14119fs)
NM_001267550.2(TTN):c.42382G>A (p.Gly14128Ser) rs1553743503
NM_001267550.2(TTN):c.42445_42446insTTT (p.Glu14149delinsValTer) rs2060125843
NM_001267550.2(TTN):c.42447A>G (p.Glu14149=) rs879241728
NM_001267550.2(TTN):c.42474del (p.Ala14159fs) rs2060122241
NM_001267550.2(TTN):c.42484del (p.Val14162fs)
NM_001267550.2(TTN):c.42540del (p.Lys14180fs)
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.42636del (p.Ala14213fs) rs869312106
NM_001267550.2(TTN):c.42639dup (p.Gln14214fs) rs2060106818
NM_001267550.2(TTN):c.42646A>T (p.Lys14216Ter)
NM_001267550.2(TTN):c.42682G>C (p.Glu14228Gln)
NM_001267550.2(TTN):c.42695del (p.Tyr14232fs)
NM_001267550.2(TTN):c.42714T>G (p.His14238Gln) rs1438979717
NM_001267550.2(TTN):c.42785G>A (p.Trp14262Ter) rs886042681
NM_001267550.2(TTN):c.427G>T (p.Glu143Ter)
NM_001267550.2(TTN):c.42822del (p.Lys14274fs) rs2060064534
NM_001267550.2(TTN):c.42869A>C (p.Lys14290Thr) rs1060500499
NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)
NM_001267550.2(TTN):c.42946+1G>T rs1553741531
NM_001267550.2(TTN):c.42949C>T (p.Arg14317Ter) rs376799532
NM_001267550.2(TTN):c.42978C>A (p.Tyr14326Ter)
NM_001267550.2(TTN):c.42993del (p.Phe14331fs)
NM_001267550.2(TTN):c.43018del (p.Ile14340fs)
NM_001267550.2(TTN):c.4301del (p.Pro1434fs)
NM_001267550.2(TTN):c.43086+3A>G rs2060017452
NM_001267550.2(TTN):c.43086+5G>A
NM_001267550.2(TTN):c.43122del (p.Ile14374_Leu14375insTer) rs1203006457
NM_001267550.2(TTN):c.43133A>G (p.His14378Arg) rs878854307
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter) rs754568652
NM_001267550.2(TTN):c.43195_43198del (p.Ala14399fs)
NM_001267550.2(TTN):c.43211A>C (p.Lys14404Thr) rs1296402152
NM_001267550.2(TTN):c.43213+1G>A
NM_001267550.2(TTN):c.43213+1G>T
NM_001267550.2(TTN):c.43214-1G>C
NM_001267550.2(TTN):c.43214-2A>G
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.43253_43254del (p.Lys14418fs) rs2059956960
NM_001267550.2(TTN):c.43288del (p.Glu14430fs)
NM_001267550.2(TTN):c.432_442del (p.Ile144_Gln145insTer)
NM_001267550.2(TTN):c.4330del (p.Glu1444fs)
NM_001267550.2(TTN):c.43316del (p.Arg14439fs)
NM_001267550.2(TTN):c.43319G>A (p.Trp14440Ter)
NM_001267550.2(TTN):c.43351G>A (p.Asp14451Asn) rs768931150
NM_001267550.2(TTN):c.43372del (p.Asp14458fs) rs794729314
NM_001267550.2(TTN):c.43418del (p.Asp14473fs)
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) rs998106657
NM_001267550.2(TTN):c.43431C>G (p.Tyr14477Ter) rs1559955466
NM_001267550.2(TTN):c.43446del (p.Asp14483fs) rs2154221841
NM_001267550.2(TTN):c.43474del (p.Ile14492fs) rs2059934937
NM_001267550.2(TTN):c.43480+4_43480+5del
NM_001267550.2(TTN):c.43483del (p.Ile14495fs) rs2059913524
NM_001267550.2(TTN):c.43538del (p.Ser14513fs)
NM_001267550.2(TTN):c.43563_43575del (p.His14522fs)
NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter) rs2154220622
NM_001267550.2(TTN):c.43652dup (p.His14551fs)
NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)
NM_001267550.2(TTN):c.43666A>G (p.Lys14556Glu) rs1553738199
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
NM_001267550.2(TTN):c.43710dup (p.Met14571fs) rs2154220574
NM_001267550.2(TTN):c.43747+5G>A rs878854308
NM_001267550.2(TTN):c.43747+5G>C rs878854308
NM_001267550.2(TTN):c.43748-1G>A rs794729259
NM_001267550.2(TTN):c.43750G>T (p.Gly14584Ter) rs2154220286
NM_001267550.2(TTN):c.43777dup (p.Gln14593fs)
NM_001267550.2(TTN):c.4385_4386delinsG (p.Lys1462fs) rs2092387027
NM_001267550.2(TTN):c.43861del (p.Asp14621fs)
NM_001267550.2(TTN):c.43911C>T (p.Gly14637=)
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg) rs878896650
NM_001267550.2(TTN):c.4413del (p.Gln1472fs) rs2092384255
NM_001267550.2(TTN):c.44154+1G>C
NM_001267550.2(TTN):c.44154+4A>T rs1576670482
NM_001267550.2(TTN):c.44154+5G>A rs2154220094
NM_001267550.2(TTN):c.44184A>G (p.Ile14728Met) rs572315033
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe) rs771361227
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44247del (p.Asn14750fs) rs2059639706
NM_001267550.2(TTN):c.44249del (p.Asn14750fs) rs2154219900
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44281+1del
NM_001267550.2(TTN):c.44281+2dup rs773570018
NM_001267550.2(TTN):c.44281+5G>A rs2059634223
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.44285G>C (p.Arg14762Pro) rs727505019
NM_001267550.2(TTN):c.44289_44290del (p.Ile14764fs) rs2059501959
NM_001267550.2(TTN):c.44294dup (p.Leu14766fs)
NM_001267550.2(TTN):c.44335G>C (p.Glu14779Gln) rs1262894259
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs) rs397517576
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn) rs747654057
NM_001267550.2(TTN):c.44378del (p.Pro14793fs) rs1064796121
NM_001267550.2(TTN):c.44400del (p.Lys14801fs) rs727503628
NM_001267550.2(TTN):c.44404_44424+8del rs2154219379
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala) rs753926213
NM_001267550.2(TTN):c.44415dup (p.Ser14806fs) rs2154219387
NM_001267550.2(TTN):c.44438C>G (p.Ser14813Ter)
NM_001267550.2(TTN):c.44472T>G (p.Asp14824Glu) rs377441854
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.44494del (p.Glu14832fs) rs1553725355
NM_001267550.2(TTN):c.44537del (p.Leu14846fs) rs2058861849
NM_001267550.2(TTN):c.44540_44541del (p.Phe14847fs)
NM_001267550.2(TTN):c.44580G>C (p.Glu14860Asp) rs1060500475
NM_001267550.2(TTN):c.44584C>T (p.Gln14862Ter)
NM_001267550.2(TTN):c.44603_44633del (p.Ala14868fs)
NM_001267550.2(TTN):c.44683del (p.Ser14895fs) rs886044263
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln) rs762830792
NM_001267550.2(TTN):c.44743A>G (p.Thr14915Ala) rs878854310
NM_001267550.2(TTN):c.4480+1G>A rs766581255
NM_001267550.2(TTN):c.4480+1G>T rs766581255
NM_001267550.2(TTN):c.4480G>T (p.Gly1494Cys)
NM_001267550.2(TTN):c.44815+1G>A rs1274007753
NM_001267550.2(TTN):c.44815+2_44815+3insTT rs786205392
NM_001267550.2(TTN):c.44850C>A (p.Asp14950Glu) rs371376631
NM_001267550.2(TTN):c.44854C>T (p.Gln14952Ter) rs2154213117
NM_001267550.2(TTN):c.44869G>T (p.Glu14957Ter)
NM_001267550.2(TTN):c.44878C>T (p.Arg14960Ter) rs2058478213
NM_001267550.2(TTN):c.4487_4488insT (p.Gln1496fs) rs1554009454
NM_001267550.2(TTN):c.44889_44890dup (p.Glu14964fs) rs2154213095
NM_001267550.2(TTN):c.44906del (p.Asn14969fs)
NM_001267550.2(TTN):c.44913+1G>T rs1553721106
NM_001267550.2(TTN):c.44913G>C (p.Lys14971Asn) rs757693661
NM_001267550.2(TTN):c.44969del (p.Ile14990fs) rs2154212465
NM_001267550.2(TTN):c.44993T>C (p.Leu14998Pro) rs1553719829
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.45052G>C (p.Ala15018Pro) rs1060500472
NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter) rs2154212373
NM_001267550.2(TTN):c.45082+4A>T
NM_001267550.2(TTN):c.45082+5G>A rs2058337645
NM_001267550.2(TTN):c.45083-1G>A
NM_001267550.2(TTN):c.45090del (p.Ala15031fs)
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs) rs2154212181
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer) rs1553718908
NM_001267550.2(TTN):c.45221del (p.Gly15074fs) rs2058288753
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45349+1G>A rs2154211977
NM_001267550.2(TTN):c.45349+1G>T
NM_001267550.2(TTN):c.45349+3A>G rs1553718424
NM_001267550.2(TTN):c.45350-1G>C rs2058237051
NM_001267550.2(TTN):c.45355del (p.Ala15119fs)
NM_001267550.2(TTN):c.4537C>T (p.Gln1513Ter) rs2092360420
NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
NM_001267550.2(TTN):c.45449T>G (p.Val15150Gly) rs1060500496
NM_001267550.2(TTN):c.45483_45495del (p.Gly15162fs)
NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter) rs1559877046
NM_001267550.2(TTN):c.45564_45567dup (p.Val15190fs) rs2154211664
NM_001267550.2(TTN):c.45583del (p.Ala15195fs) rs2154211651
NM_001267550.2(TTN):c.45601C>G (p.His15201Asp) rs794729438
NM_001267550.2(TTN):c.45602_45605del (p.His15201fs)
NM_001267550.2(TTN):c.45610_45613dup (p.Ile15205fs) rs2058205143
NM_001267550.2(TTN):c.45667C>T (p.Gln15223Ter)
NM_001267550.2(TTN):c.45674_45675del (p.Val15225fs) rs1232518763
NM_001267550.2(TTN):c.45719G>A (p.Trp15240Ter) rs2058162241
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
NM_001267550.2(TTN):c.45730G>T (p.Glu15244Ter) rs2058161147
NM_001267550.2(TTN):c.45737C>T (p.Ala15246Val) rs370233278
NM_001267550.2(TTN):c.45769C>T (p.Gln15257Ter) rs2154211378
NM_001267550.2(TTN):c.45787_45793del (p.Thr15263fs)
NM_001267550.2(TTN):c.45809_45810del (p.His15270fs) rs2154211339
NM_001267550.2(TTN):c.45814del (p.Asp15272fs) rs1576550450
NM_001267550.2(TTN):c.45837_45838del (p.Ser15280fs) rs2058146182
NM_001267550.2(TTN):c.45852_45853del (p.His15284fs) rs1266824761
NM_001267550.2(TTN):c.45895+1G>T rs727504589
NM_001267550.2(TTN):c.45895+5G>C rs1206842325
NM_001267550.2(TTN):c.45940A>T (p.Met15314Leu) rs1391292606
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs) rs1553715911
NM_001267550.2(TTN):c.46017dup (p.Glu15340fs)
NM_001267550.2(TTN):c.46061A>G (p.Tyr15354Cys) rs886038861
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del) rs727505075
NM_001267550.2(TTN):c.46164del (p.Ala15389fs)
NM_001267550.2(TTN):c.46197_46198insGAACCCTT (p.Gln15400fs)
NM_001267550.2(TTN):c.46201_46204del (p.Thr15401fs)
NM_001267550.2(TTN):c.46205T>C (p.Val15402Ala) rs1559868004
NM_001267550.2(TTN):c.46211A>G (p.Glu15404Gly) rs878854311
NM_001267550.2(TTN):c.4621A>G (p.Ile1541Val) rs1060500580
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.46237C>T (p.Gln15413Ter)
NM_001267550.2(TTN):c.46272C>A (p.Tyr15424Ter) rs879139686
NM_001267550.2(TTN):c.46285G>T (p.Glu15429Ter) rs1576543528
NM_001267550.2(TTN):c.46304+1G>T
NM_001267550.2(TTN):c.46304+3A>T rs866285912
NM_001267550.2(TTN):c.46304+5G>A rs398124452
NM_001267550.2(TTN):c.46305-1G>C rs1553714845
NM_001267550.2(TTN):c.46309A>T (p.Lys15437Ter) rs2154210717
NM_001267550.2(TTN):c.46335_46336del (p.His15445fs)
NM_001267550.2(TTN):c.46344_46348dup (p.Lys15450delinsIleTer)
NM_001267550.2(TTN):c.46374_46375dup (p.Glu15459fs) rs2154210696
NM_001267550.2(TTN):c.46385_46406dup (p.Ala15471fs)
NM_001267550.2(TTN):c.46397dup (p.Asp15466fs)
NM_001267550.2(TTN):c.46399dup (p.Arg15467fs) rs1060500443
NM_001267550.2(TTN):c.46407_46410dup (p.Ala15471fs) rs2058029089
NM_001267550.2(TTN):c.46429+1G>T rs2154210677
NM_001267550.2(TTN):c.46429+2T>C
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
NM_001267550.2(TTN):c.46430-2A>G
NM_001267550.2(TTN):c.46459C>T (p.Gln15487Ter) rs2058001839
NM_001267550.2(TTN):c.4646-5T>A rs750400475
NM_001267550.2(TTN):c.46514_46517dup (p.Asp15506fs)
NM_001267550.2(TTN):c.4651G>A (p.Glu1551Lys) rs762008835
NM_001267550.2(TTN):c.46550T>C (p.Met15517Thr) rs1349699547
NM_001267550.2(TTN):c.46565del (p.Gly15522fs) rs2057989087
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu) rs1553713980
NM_001267550.2(TTN):c.46623del (p.Lys15542fs)
NM_001267550.2(TTN):c.46639_46643dup (p.Tyr15549fs)
NM_001267550.2(TTN):c.46653_46656dup (p.Ala15553fs) rs2154210554
NM_001267550.2(TTN):c.46668_46671del (p.Glu15557fs)
NM_001267550.2(TTN):c.46696+1G>T rs1064796987
NM_001267550.2(TTN):c.46696+4A>G rs1553713646
NM_001267550.2(TTN):c.46697-1G>T rs2154209955
NM_001267550.2(TTN):c.46723C>T (p.Gln15575Ter)
NM_001267550.2(TTN):c.46724_46725delinsC (p.Gln15575fs) rs1559855146
NM_001267550.2(TTN):c.46732G>C (p.Val15578Leu) rs1553712552
NM_001267550.2(TTN):c.46736_46745del (p.Val15579fs)
NM_001267550.2(TTN):c.46753_46754del (p.Leu15585fs) rs2154209917
NM_001267550.2(TTN):c.46788del (p.Ala15597fs) rs2154209882
NM_001267550.2(TTN):c.46803G>A (p.Trp15601Ter) rs1576521473
NM_001267550.2(TTN):c.46810G>T (p.Glu15604Ter) rs749463044
NM_001267550.2(TTN):c.46810_46814del (p.Lys15603_Glu15604insTer)
NM_001267550.2(TTN):c.46823del (p.Leu15608fs) rs2154209855
NM_001267550.2(TTN):c.46831_46837dup (p.Ile15613fs)
NM_001267550.2(TTN):c.46895_46898del (p.Lys15632fs) rs1553712148
NM_001267550.2(TTN):c.468C>T (p.Gly156=)
NM_001267550.2(TTN):c.46939G>T (p.Glu15647Ter)
NM_001267550.2(TTN):c.46943G>A (p.Gly15648Glu) rs1060500413
NM_001267550.2(TTN):c.46966+1G>A
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn) rs727504572
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg) rs1553711574
NM_001267550.2(TTN):c.47177T>C (p.Val15726Ala) rs1553711371
NM_001267550.2(TTN):c.47289G>T (p.Leu15763Phe) rs1553710788
NM_001267550.2(TTN):c.47394_47411del (p.Asp15799_Arg15804del) rs398124453
NM_001267550.2(TTN):c.47515A>G (p.Ile15839Val) rs1553710021
NM_001267550.2(TTN):c.47537C>T (p.Ala15846Val) rs1183139911
NM_001267550.2(TTN):c.47626G>A (p.Val15876Ile) rs766025438
NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)
NM_001267550.2(TTN):c.47757C>T (p.Tyr15919=) rs1060500551
NM_001267550.2(TTN):c.47761-7A>G rs1365533381
NM_001267550.2(TTN):c.47875+4_47875+7del rs753206674
NM_001267550.2(TTN):c.47875+9A>G rs1553708222
NM_001267550.2(TTN):c.47900C>A (p.Ala15967Glu) rs1553707943
NM_001267550.2(TTN):c.48052G>A (p.Ala16018Thr) rs1451009964
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln) rs886055271
NM_001267550.2(TTN):c.4814+3A>C rs567197047
NM_001267550.2(TTN):c.4814+6T>C
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr) rs1576492463
NM_001267550.2(TTN):c.48311A>C (p.Lys16104Thr) rs1060500396
NM_001267550.2(TTN):c.48312+2dup rs776497397
NM_001267550.2(TTN):c.48312+5G>A
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del) rs561618839
NM_001267550.2(TTN):c.48399C>A (p.Asn16133Lys) rs1060500470
NM_001267550.2(TTN):c.48557G>A (p.Arg16186His) rs769784536
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.48590G>A (p.Arg16197His) rs369826752
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.48638+5del rs2057135287
NM_001267550.2(TTN):c.48639-3C>A rs923663993
NM_001267550.2(TTN):c.48668A>C (p.Lys16223Thr) rs1553704101
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr) rs72677242
NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)
NM_001267550.2(TTN):c.4880G>A (p.Trp1627Ter) rs767755367
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) rs368527534
NM_001267550.2(TTN):c.48862C>T (p.Pro16288Ser) rs894986526
NM_001267550.2(TTN):c.48971G>T (p.Ser16324Ile) rs878948684
NM_001267550.2(TTN):c.489dup (p.Ala164fs) rs1574990483
NM_001267550.2(TTN):c.49048+4A>G rs766931932
NM_001267550.2(TTN):c.4910del (p.Gly1637fs) rs886044013
NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr) rs794729446
NM_001267550.2(TTN):c.49175C>A (p.Ala16392Glu) rs750310775
NM_001267550.2(TTN):c.49241A>G (p.Lys16414Arg) rs1329659749
NM_001267550.2(TTN):c.49345+3A>G rs2056845605
NM_001267550.2(TTN):c.49388C>A (p.Thr16463Asn) rs541307234
NM_001267550.2(TTN):c.49488A>G (p.Lys16496=) rs1553701108
NM_001267550.2(TTN):c.4991G>A (p.Arg1664Gln)
NM_001267550.2(TTN):c.4995del (p.Thr1666fs) rs2154346335
NM_001267550.2(TTN):c.49964C>A (p.Pro16655Gln)
NM_001267550.2(TTN):c.5001T>G (p.Tyr1667Ter)
NM_001267550.2(TTN):c.5003G>A (p.Arg1668Lys) rs1554008153
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val) rs763483590
NM_001267550.2(TTN):c.501C>G (p.Tyr167Ter)
NM_001267550.2(TTN):c.50441C>G (p.Thr16814Ser) rs1559783698
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.5073dup (p.Gly1692fs)
NM_001267550.2(TTN):c.50749G>A (p.Gly16917Ser) rs1553696081
NM_001267550.2(TTN):c.50811C>T (p.Ser16937=) rs780845171
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.51136+3A>G
NM_001267550.2(TTN):c.51338C>A (p.Pro17113Gln) rs763635220
NM_001267550.2(TTN):c.51366A>T (p.Lys17122Asn) rs1553693116
NM_001267550.2(TTN):c.51436+5G>C rs2055951790
NM_001267550.2(TTN):c.51454G>A (p.Val17152Ile) rs1553692607
NM_001267550.2(TTN):c.51633A>T (p.Gly17211=) rs879091553
NM_001267550.2(TTN):c.51634C>T (p.Leu17212Phe) rs1473716049
NM_001267550.2(TTN):c.5172C>A (p.Cys1724Ter) rs2154346258
NM_001267550.2(TTN):c.51739+3A>G
NM_001267550.2(TTN):c.51928GAA[2] (p.Glu17312del) rs780745206
NM_001267550.2(TTN):c.51938C>A (p.Pro17313Gln) rs372927085
NM_001267550.2(TTN):c.51947T>G (p.Leu17316Arg) rs368529230
NM_001267550.2(TTN):c.51986A>T (p.Lys17329Met) rs1060500490
NM_001267550.2(TTN):c.5204del (p.Val1735fs)
NM_001267550.2(TTN):c.52085G>A (p.Cys17362Tyr) rs1553690569
NM_001267550.2(TTN):c.52102+5G>C rs886042399
NM_001267550.2(TTN):c.52112G>A (p.Gly17371Glu) rs794729455
NM_001267550.2(TTN):c.52385T>A (p.Leu17462His) rs1216814159
NM_001267550.2(TTN):c.52524A>T (p.Lys17508Asn) rs1060500466
NM_001267550.2(TTN):c.52530_52535del (p.Glu17510_Asn17512delinsAsp) rs1553688489
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del) rs755947249
NM_001267550.2(TTN):c.5260A>G (p.Ile1754Val) rs780379544
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=) rs748001472
NM_001267550.2(TTN):c.52859C>G (p.Thr17620Arg) rs1559743128
NM_001267550.2(TTN):c.53060G>A (p.Gly17687Glu) rs780672348
NM_001267550.2(TTN):c.5309G>A (p.Arg1770Lys) rs1554007509
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53287+4A>C rs2055151641
NM_001267550.2(TTN):c.53287G>C (p.Asp17763His) rs2055154464
NM_001267550.2(TTN):c.53357C>A (p.Ser17786Tyr) rs1060500485
NM_001267550.2(TTN):c.53581G>A (p.Gly17861Ser) rs1576357395
NM_001267550.2(TTN):c.53609C>T (p.Thr17870Ile) rs1553683359
NM_001267550.2(TTN):c.53641C>G (p.Leu17881Val) rs771801125
NM_001267550.2(TTN):c.53641C>T (p.Leu17881Phe) rs771801125
NM_001267550.2(TTN):c.53659C>T (p.Arg17887Cys) rs771307468
NM_001267550.2(TTN):c.53663G>C (p.Ser17888Thr) rs778009539
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.53881+6G>A rs1553682704
NM_001267550.2(TTN):c.538A>C (p.Asn180His) rs864622712
NM_001267550.2(TTN):c.53903G>C (p.Arg17968Pro) rs200100660
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs) rs1064796474
NM_001267550.2(TTN):c.53965G>A (p.Asp17989Asn) rs1060500481
NM_001267550.2(TTN):c.54148C>G (p.Arg18050Gly) rs55734111
NM_001267550.2(TTN):c.54290T>C (p.Ile18097Thr) rs1553681465
NM_001267550.2(TTN):c.5446del (p.Ile1816fs)
NM_001267550.2(TTN):c.54496C>T (p.Leu18166Phe) rs878953621
NM_001267550.2(TTN):c.54600C>G (p.Gly18200=)
NM_001267550.2(TTN):c.5468C>T (p.Ala1823Val) rs1554007106
NM_001267550.2(TTN):c.54727C>G (p.Gln18243Glu) rs372447571
NM_001267550.2(TTN):c.54935AAG[2] (p.Glu18314del) rs1553675991
NM_001267550.2(TTN):c.54976G>C (p.Asp18326His) rs1553675887
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.5519del (p.Lys1840fs)
NM_001267550.2(TTN):c.55269+3A>G
NM_001267550.2(TTN):c.55271A>G (p.Asp18424Gly) rs1553674352
NM_001267550.2(TTN):c.55303-1G>A rs748369265
NM_001267550.2(TTN):c.5539C>T (p.Pro1847Ser) rs138778559
NM_001267550.2(TTN):c.55432+5G>A
NM_001267550.2(TTN):c.55433-4A>G rs1451088765
NM_001267550.2(TTN):c.55485T>G (p.Ser18495Arg) rs1213190093
NM_001267550.2(TTN):c.55522G>A (p.Gly18508Arg) rs1060500511
NM_001267550.2(TTN):c.55610C>T (p.Thr18537Ile) rs1027035888
NM_001267550.2(TTN):c.55615G>A (p.Val18539Ile) rs1060500557
NM_001267550.2(TTN):c.55682T>C (p.Ile18561Thr)
NM_001267550.2(TTN):c.55732+3A>G rs2154192792
NM_001267550.2(TTN):c.55732+4A>G rs2053372615
NM_001267550.2(TTN):c.55851G>C (p.Glu18617Asp) rs878854316
NM_001267550.2(TTN):c.55909C>A (p.Arg18637Ser) rs374151130
NM_001267550.2(TTN):c.5601C>A (p.Tyr1867Ter)
NM_001267550.2(TTN):c.56067T>A (p.Asp18689Glu) rs1553667022
NM_001267550.2(TTN):c.56191C>A (p.Pro18731Thr) rs751457168
NM_001267550.2(TTN):c.56191C>T (p.Pro18731Ser) rs751457168
NM_001267550.2(TTN):c.56207C>A (p.Thr18736Asn) rs1455791430
NM_001267550.2(TTN):c.5622del (p.Trp1874fs)
NM_001267550.2(TTN):c.5630A>T (p.Asn1877Ile) rs1554006798
NM_001267550.2(TTN):c.56453C>A (p.Thr18818Lys) rs945270235
NM_001267550.2(TTN):c.56549T>A (p.Leu18850Gln) rs878854317
NM_001267550.2(TTN):c.56647+6T>C
NM_001267550.2(TTN):c.5672A>G (p.Tyr1891Cys) rs547305291
NM_001267550.2(TTN):c.5674del (p.Asp1892fs) rs2154346038
NM_001267550.2(TTN):c.57111+3A>G rs374844230
NM_001267550.2(TTN):c.5713T>C (p.Tyr1905His) rs1477069650
NM_001267550.2(TTN):c.57262G>A (p.Val19088Ile) rs727505347
NM_001267550.2(TTN):c.57263-6T>G rs562237741
NM_001267550.2(TTN):c.57305T>C (p.Ile19102Thr) rs878854319
NM_001267550.2(TTN):c.57323G>A (p.Gly19108Glu) rs774910035
NM_001267550.2(TTN):c.57325G>A (p.Val19109Met) rs945083650
NM_001267550.2(TTN):c.57491T>C (p.Leu19164Pro) rs1553659364
NM_001267550.2(TTN):c.57617T>A (p.Phe19206Tyr) rs1060500418
NM_001267550.2(TTN):c.5770A>T (p.Lys1924Ter) rs1327562179
NM_001267550.2(TTN):c.57742C>A (p.Leu19248Ile) rs1553655240
NM_001267550.2(TTN):c.5779C>T (p.Leu1927Phe) rs1370515925
NM_001267550.2(TTN):c.57833T>C (p.Ile19278Thr) rs1060500546
NM_001267550.2(TTN):c.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.5793del (p.Arg1932fs)
NM_001267550.2(TTN):c.5797G>T (p.Glu1933Ter)
NM_001267550.2(TTN):c.58009G>A (p.Asp19337Asn) rs1239348052
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) rs754793079
NM_001267550.2(TTN):c.58049AAG[1] (p.Glu19351del) rs397517634
NM_001267550.2(TTN):c.58084G>T (p.Val19362Phe) rs878854321
NM_001267550.2(TTN):c.5808del (p.Arg1936fs) rs2154345980
NM_001267550.2(TTN):c.58141G>A (p.Asp19381Asn) rs1325584288
NM_001267550.2(TTN):c.5814_5815insT (p.Leu1939fs) rs2154345971
NM_001267550.2(TTN):c.58150+4T>C
NM_001267550.2(TTN):c.58150+5G>A rs2050944617
NM_001267550.2(TTN):c.58303A>G (p.Ile19435Val) rs749402480
NM_001267550.2(TTN):c.58374T>G (p.Cys19458Trp) rs777855018
NM_001267550.2(TTN):c.58381G>A (p.Val19461Met) rs368431326
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr) rs920055688
NM_001267550.2(TTN):c.584-1G>T
NM_001267550.2(TTN):c.58445C>T (p.Pro19482Leu) rs746380279
NM_001267550.2(TTN):c.5855A>G (p.His1952Arg) rs572691153
NM_001267550.2(TTN):c.5867del (p.Lys1956fs) rs1554006249
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.5884C>T (p.Gln1962Ter)
NM_001267550.2(TTN):c.5889_5922del (p.Val1964fs) rs2092170508
NM_001267550.2(TTN):c.58958G>A (p.Arg19653Gln) rs1398360418
NM_001267550.2(TTN):c.59035+3A>G
NM_001267550.2(TTN):c.59035+6_59035+8del rs1553648631
NM_001267550.2(TTN):c.59036C>T (p.Ala19679Val) rs1238012891
NM_001267550.2(TTN):c.59147T>C (p.Ile19716Thr) rs763636451
NM_001267550.2(TTN):c.5933del (p.Lys1978fs) rs2092169389
NM_001267550.2(TTN):c.59340G>C (p.Arg19780Ser) rs1327554085
NM_001267550.2(TTN):c.59344G>C (p.Glu19782Gln)
NM_001267550.2(TTN):c.59381G>C (p.Arg19794Thr) rs1553647309
NM_001267550.2(TTN):c.59451A>C (p.Lys19817Asn) rs1553647180
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val) rs886055303
NM_001267550.2(TTN):c.59626G>A (p.Asp19876Asn) rs1244294413
NM_001267550.2(TTN):c.59647G>T (p.Asp19883Tyr) rs1060500395
NM_001267550.2(TTN):c.5981C>A (p.Ser1994Ter) rs758483877
NM_001267550.2(TTN):c.59888T>C (p.Val19963Ala) rs1553645836
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe) rs1553645773
NM_001267550.2(TTN):c.59965G>C (p.Val19989Leu) rs1021499065
NM_001267550.2(TTN):c.599del (p.Pro200fs)
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del) rs761360903
NM_001267550.2(TTN):c.60305T>G (p.Ile20102Arg) rs998020901
NM_001267550.2(TTN):c.60323C>G (p.Pro20108Arg)
NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser) rs375009570
NM_001267550.2(TTN):c.60490G>A (p.Val20164Ile) rs72646843
NM_001267550.2(TTN):c.6061C>T (p.Arg2021Ter)
NM_001267550.2(TTN):c.60755T>C (p.Ile20252Thr) rs752999797
NM_001267550.2(TTN):c.60871T>G (p.Ser20291Ala) rs1553643238
NM_001267550.2(TTN):c.60920A>T (p.Tyr20307Phe) rs1553643111
NM_001267550.2(TTN):c.60952G>C (p.Val20318Leu)
NM_001267550.2(TTN):c.60968C>T (p.Thr20323Ile) rs1060500415
NM_001267550.2(TTN):c.61215A>G (p.Gly20405=) rs1220596514
NM_001267550.2(TTN):c.61244_61245inv (p.Thr20415Met)
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg) rs1472565206
NM_001267550.2(TTN):c.61709C>G (p.Pro20570Arg) rs1559576730
NM_001267550.2(TTN):c.618_630del (p.Ile207fs) rs2154358671
NM_001267550.2(TTN):c.62005C>T (p.Pro20669Ser) rs1553641246
NM_001267550.2(TTN):c.62008G>C (p.Gly20670Arg) rs774150150
NM_001267550.2(TTN):c.62137G>T (p.Asp20713Tyr) rs1177521349
NM_001267550.2(TTN):c.62222T>G (p.Phe20741Cys) rs1553640801
NM_001267550.2(TTN):c.62262G>C (p.Trp20754Cys) rs1060500414
NM_001267550.2(TTN):c.62289AGA[1] (p.Glu20764del) rs751783806
NM_001267550.2(TTN):c.62299C>G (p.Gln20767Glu) rs1553640642
NM_001267550.2(TTN):c.62411C>A (p.Thr20804Asn) rs1218971734
NM_001267550.2(TTN):c.6244G>T (p.Glu2082Ter) rs750064248
NM_001267550.2(TTN):c.62618T>C (p.Ile20873Thr) rs1060500438
NM_001267550.2(TTN):c.62678_62679delinsTT (p.Gly20893Val) rs1060500476
NM_001267550.2(TTN):c.62681G>A (p.Cys20894Tyr) rs370080086
NM_001267550.2(TTN):c.6290dup (p.Arg2098fs)
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.62939T>C (p.Met20980Thr) rs757789191
NM_001267550.2(TTN):c.63032T>A (p.Val21011Asp) rs1553639384
NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr) rs1169239147
NM_001267550.2(TTN):c.63064C>T (p.Arg21022Cys) rs779112015
NM_001267550.2(TTN):c.63069G>C (p.Met21023Ile) rs1060500596
NM_001267550.2(TTN):c.63187+5G>A rs1292388582
NM_001267550.2(TTN):c.63250G>A (p.Gly21084Arg) rs1559557623
NM_001267550.2(TTN):c.63298G>A (p.Val21100Ile) rs774240012
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.6332G>A (p.Trp2111Ter)
NM_001267550.2(TTN):c.63343G>A (p.Gly21115Ser) rs1559556478
NM_001267550.2(TTN):c.63446A>C (p.Asn21149Thr) rs1060500527
NM_001267550.2(TTN):c.63674T>C (p.Val21225Ala) rs1396646735
NM_001267550.2(TTN):c.6377G>A (p.Trp2126Ter)
NM_001267550.2(TTN):c.6378G>A (p.Trp2126Ter) rs754781119
NM_001267550.2(TTN):c.63793+4G>C rs777513250
NM_001267550.2(TTN):c.63793+5G>A rs2049296291
NM_001267550.2(TTN):c.63793G>T (p.Asp21265Tyr) rs794729474
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter) rs2092121151
NM_001267550.2(TTN):c.6388G>T (p.Glu2130Ter) rs762914675
NM_001267550.2(TTN):c.64093+4A>C
NM_001267550.2(TTN):c.64093+4_64093+7del rs1437065772
NM_001267550.2(TTN):c.6409del (p.Val2137fs) rs2092117117
NM_001267550.2(TTN):c.64123G>C (p.Val21375Leu) rs371670651
NM_001267550.2(TTN):c.64396+4A>G rs2049020856
NM_001267550.2(TTN):c.64541C>T (p.Ala21514Val) rs1060500520
NM_001267550.2(TTN):c.64672G>A (p.Asp21558Asn)
NM_001267550.2(TTN):c.64672G>T (p.Asp21558Tyr)
NM_001267550.2(TTN):c.64688C>G (p.Pro21563Arg)
NM_001267550.2(TTN):c.64732T>G (p.Ser21578Ala) rs1553633161
NM_001267550.2(TTN):c.64753C>A (p.Leu21585Met) rs772957708
NM_001267550.2(TTN):c.64781A>C (p.Asn21594Thr) rs1060500570
NM_001267550.2(TTN):c.64860G>C (p.Arg21620Ser) rs373713828
NM_001267550.2(TTN):c.64937T>C (p.Leu21646Pro) rs1060500539
NM_001267550.2(TTN):c.6497T>G (p.Leu2166Ter)
NM_001267550.2(TTN):c.65024G>A (p.Cys21675Tyr) rs1060500571
NM_001267550.2(TTN):c.65048C>A (p.Pro21683Gln) rs1328998714
NM_001267550.2(TTN):c.65072T>C (p.Ile21691Thr) rs1060500388
NM_001267550.2(TTN):c.6509-1G>T
NM_001267550.2(TTN):c.65093G>A (p.Arg21698His) rs371581072
NM_001267550.2(TTN):c.65114T>A (p.Leu21705Gln) rs2154179812
NM_001267550.2(TTN):c.65159C>T (p.Pro21720Leu) rs878854325
NM_001267550.2(TTN):c.65206G>T (p.Ala21736Ser) rs1320436212
NM_001267550.2(TTN):c.6520A>G (p.Ile2174Val) rs1171508892
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.65546C>T (p.Ser21849Phe) rs1060500465
NM_001267550.2(TTN):c.6564del (p.Asp2189fs)
NM_001267550.2(TTN):c.6570dup (p.Met2191fs) rs2092066056
NM_001267550.2(TTN):c.65812_65863+6del rs2048116266
NM_001267550.2(TTN):c.65863G>A (p.Asp21955Asn) rs1428859947
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.66256C>T (p.Pro22086Ser) rs1060500491
NM_001267550.2(TTN):c.66430G>T (p.Ala22144Ser) rs183276016
NM_001267550.2(TTN):c.66463+2dup rs1276825352
NM_001267550.2(TTN):c.66463+4dup
NM_001267550.2(TTN):c.66463+5G>A
NM_001267550.2(TTN):c.66463+5G>C
NM_001267550.2(TTN):c.66578T>C (p.Val22193Ala) rs775454536
NM_001267550.2(TTN):c.6675C>G (p.Asp2225Glu) rs1002616301
NM_001267550.2(TTN):c.66769+4_66769+7del rs727504189
NM_001267550.2(TTN):c.66769+5G>A
NM_001267550.2(TTN):c.6678_6681del (p.Lys2227fs) rs397517698
NM_001267550.2(TTN):c.6688T>C (p.Phe2230Leu) rs1060500424
NM_001267550.2(TTN):c.669+1G>T
NM_001267550.2(TTN):c.669+2T>C
NM_001267550.2(TTN):c.669+3A>G
NM_001267550.2(TTN):c.66926A>T (p.Asp22309Val) rs1481781346
NM_001267550.2(TTN):c.66del (p.Ala23fs)
NM_001267550.2(TTN):c.670-1G>A rs1054895701
NM_001267550.2(TTN):c.67057+3A>C
NM_001267550.2(TTN):c.6712dup (p.Thr2238fs) rs2092039557
NM_001267550.2(TTN):c.6713C>G (p.Thr2238Arg) rs201284459
NM_001267550.2(TTN):c.67195A>G (p.Lys22399Glu) rs1060500421
NM_001267550.2(TTN):c.67229A>C (p.Lys22410Thr) rs1559493839
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met) rs1553622336
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala) rs1553622176
NM_001267550.2(TTN):c.67636+2_67636+3insC rs2047225762
NM_001267550.2(TTN):c.67636G>A (p.Val22546Met) rs794729244
NM_001267550.2(TTN):c.67804T>C (p.Ser22602Pro) rs780276317
NM_001267550.2(TTN):c.67817C>T (p.Thr22606Ile) rs1254285646
NM_001267550.2(TTN):c.6790+1G>T
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile) rs750093105
NM_001267550.2(TTN):c.67919T>C (p.Val22640Ala) rs1060500506
NM_001267550.2(TTN):c.68066A>G (p.Asn22689Ser) rs375397094
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) rs1554002953
NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile) rs1553620392
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser) rs886039082
NM_001267550.2(TTN):c.68224+3_68224+6del
NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)
NM_001267550.2(TTN):c.6825del (p.Asp2275fs) rs2091959062
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg) rs2154174748
NM_001267550.2(TTN):c.68432G>T (p.Gly22811Val) rs78806155
NM_001267550.2(TTN):c.68527G>C (p.Asp22843His)
NM_001267550.2(TTN):c.6857del (p.Glu2285_Leu2286insTer) rs2154345136
NM_001267550.2(TTN):c.68824+3A>G
NM_001267550.2(TTN):c.68921A>G (p.Lys22974Arg) rs1559471235
NM_001267550.2(TTN):c.68990C>A (p.Thr22997Asn) rs886043272
NM_001267550.2(TTN):c.69172A>T (p.Thr23058Ser) rs752304059
NM_001267550.2(TTN):c.69212C>T (p.Pro23071Leu) rs367664195
NM_001267550.2(TTN):c.69506G>T (p.Ser23169Ile) rs879245080
NM_001267550.2(TTN):c.69715+5G>C rs1553615539
NM_001267550.2(TTN):c.69715_69715+3dup rs2154173093
NM_001267550.2(TTN):c.69748A>T (p.Thr23250Ser) rs1060500455
NM_001267550.2(TTN):c.7005dup (p.Tyr2336fs)
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) rs767208489
NM_001267550.2(TTN):c.70120C>G (p.Pro23374Ala) rs1553614524
NM_001267550.2(TTN):c.70153C>G (p.Leu23385Val) rs769672151
NM_001267550.2(TTN):c.70244T>A (p.Met23415Lys) rs765861604
NM_001267550.2(TTN):c.7026del (p.Lys2344fs) rs1211627330
NM_001267550.2(TTN):c.7031dup (p.Thr2345fs) rs2091933920
NM_001267550.2(TTN):c.70324C>A (p.Leu23442Met) rs1553614105
NM_001267550.2(TTN):c.7042_7045dup (p.Leu2349Ter)
NM_001267550.2(TTN):c.70480T>C (p.Tyr23494His) rs72646888
NM_001267550.2(TTN):c.7057+1G>C
NM_001267550.2(TTN):c.7057+1del
NM_001267550.2(TTN):c.70655C>T (p.Ala23552Val) rs754742503
NM_001267550.2(TTN):c.70748C>T (p.Thr23583Ile) rs397517687
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu) rs368325616
NM_001267550.2(TTN):c.70830C>A (p.Ser23610Arg) rs12464787
NM_001267550.2(TTN):c.7104_7105del (p.Cys2368_Glu2369delinsTer) rs2154344972
NM_001267550.2(TTN):c.71140G>A (p.Glu23714Lys) rs767016969
NM_001267550.2(TTN):c.71147G>A (p.Gly23716Asp) rs774327480
NM_001267550.2(TTN):c.71305A>T (p.Thr23769Ser) rs776889753
NM_001267550.2(TTN):c.71388G>T (p.Glu23796Asp) rs878854330
NM_001267550.2(TTN):c.71408C>T (p.Ala23803Val) rs1553611543
NM_001267550.2(TTN):c.71476G>C (p.Val23826Leu) rs377751708
NM_001267550.2(TTN):c.7148del (p.Ser2383fs) rs1060500437
NM_001267550.2(TTN):c.71568C>A (p.Ser23856Arg) rs1060500519
NM_001267550.2(TTN):c.71654T>C (p.Ile23885Thr) rs1488254665
NM_001267550.2(TTN):c.7177C>T (p.Gln2393Ter) rs2154344933
NM_001267550.2(TTN):c.71819C>T (p.Thr23940Ile) rs1553610793
NM_001267550.2(TTN):c.71876A>G (p.Tyr23959Cys) rs1709290294
NM_001267550.2(TTN):c.71891G>A (p.Arg23964Lys) rs770679732
NM_001267550.2(TTN):c.72106A>C (p.Lys24036Gln) rs544263357
NM_001267550.2(TTN):c.72106A>G (p.Lys24036Glu) rs544263357
NM_001267550.2(TTN):c.72231A>C (p.Glu24077Asp) rs1423712037
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro) rs747828487
NM_001267550.2(TTN):c.72528A>C (p.Glu24176Asp) rs878854331
NM_001267550.2(TTN):c.72572A>C (p.Asn24191Thr) rs1479698498
NM_001267550.2(TTN):c.72611G>A (p.Gly24204Glu) rs1553609189
NM_001267550.2(TTN):c.72716T>C (p.Met24239Thr) rs750298083
NM_001267550.2(TTN):c.72743C>G (p.Ser24248Cys) rs1060500474
NM_001267550.2(TTN):c.7275C>G (p.Tyr2425Ter)
NM_001267550.2(TTN):c.72923C>G (p.Pro24308Arg) rs1553608507
NM_001267550.2(TTN):c.73169C>A (p.Thr24390Lys) rs1060500583
NM_001267550.2(TTN):c.7330+1_7330+8del
NM_001267550.2(TTN):c.7331-1G>A
NM_001267550.2(TTN):c.73334C>A (p.Thr24445Asn) rs377334665
NM_001267550.2(TTN):c.73570C>A (p.Gln24524Lys) rs753429609
NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys) rs777738635
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.73878G>A (p.Met24626Ile) rs1060500561
NM_001267550.2(TTN):c.73896_73897insACT (p.Ser24632_Val24633insThr) rs1060500433
NM_001267550.2(TTN):c.73904T>C (p.Leu24635Pro) rs1553606189
NM_001267550.2(TTN):c.73954A>G (p.Ile24652Val) rs760045336
NM_001267550.2(TTN):c.74021C>T (p.Ala24674Val) rs1158950009
NM_001267550.2(TTN):c.74024C>G (p.Thr24675Ser) rs1553606008
NM_001267550.2(TTN):c.74057C>T (p.Ser24686Phe) rs727504921
NM_001267550.2(TTN):c.7450C>T (p.Gln2484Ter) rs2091844239
NM_001267550.2(TTN):c.74519C>A (p.Ser24840Tyr) rs1060500559
NM_001267550.2(TTN):c.74608G>C (p.Ala24870Pro) rs768892376
NM_001267550.2(TTN):c.74612G>A (p.Cys24871Tyr) rs1553604956
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu) rs148920986
NM_001267550.2(TTN):c.74704G>A (p.Ala24902Thr) rs1260354990
NM_001267550.2(TTN):c.74830C>A (p.His24944Asn) rs779868325
NM_001267550.2(TTN):c.74895A>G (p.Gln24965=) rs201512527
NM_001267550.2(TTN):c.7493del (p.Thr2498fs) rs2154344697
NM_001267550.2(TTN):c.74988A>C (p.Lys24996Asn) rs933609400
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe) rs559907766
NM_001267550.2(TTN):c.75161T>C (p.Met25054Thr) rs1553604004
NM_001267550.2(TTN):c.7516C>T (p.Arg2506Ter) rs780415493
NM_001267550.2(TTN):c.75277C>G (p.Pro25093Ala) rs748359400
NM_001267550.2(TTN):c.75325C>T (p.Pro25109Ser) rs1060500498
NM_001267550.2(TTN):c.75359C>A (p.Thr25120Lys) rs878854333
NM_001267550.2(TTN):c.75653C>T (p.Thr25218Ile) rs1060500521
NM_001267550.2(TTN):c.75872T>C (p.Leu25291Pro) rs1559388448
NM_001267550.2(TTN):c.75913C>T (p.Pro25305Ser) rs1005621705
NM_001267550.2(TTN):c.7594+2T>A rs2091827779
NM_001267550.2(TTN):c.7594+3A>G rs769765778
NM_001267550.2(TTN):c.75952A>G (p.Lys25318Glu) rs878854334
NM_001267550.2(TTN):c.75968T>G (p.Val25323Gly) rs781058398
NM_001267550.2(TTN):c.7599del (p.Ile2535fs) rs2091811840
NM_001267550.2(TTN):c.76186T>G (p.Tyr25396Asp) rs771853872
NM_001267550.2(TTN):c.76187A>G (p.Tyr25396Cys) rs1060500403
NM_001267550.2(TTN):c.7624C>T (p.Leu2542Phe) rs762722498
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser) rs765136135
NM_001267550.2(TTN):c.7628C>T (p.Thr2543Ile) rs765136135
NM_001267550.2(TTN):c.7639del (p.Thr2547fs) rs1060500400
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001267550.2(TTN):c.76492C>A (p.Pro25498Thr) rs377754701
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala) rs377754701
NM_001267550.2(TTN):c.76607G>T (p.Gly25536Val) rs1021201663
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu) rs1002726225
NM_001267550.2(TTN):c.76711G>A (p.Val25571Ile) rs760782774
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met) rs374913031
NM_001267550.2(TTN):c.76838T>A (p.Ile25613Asn) rs1553601096
NM_001267550.2(TTN):c.76858A>G (p.Ile25620Val) rs773656560
NM_001267550.2(TTN):c.76931C>T (p.Thr25644Ile) rs1060500456
NM_001267550.2(TTN):c.76981A>G (p.Lys25661Glu) rs1553600919
NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly) rs1306199809
NM_001267550.2(TTN):c.77260C>A (p.Leu25754Ile)
NM_001267550.2(TTN):c.77365A>T (p.Ile25789Leu) rs1253687329
NM_001267550.2(TTN):c.7744G>A (p.Ala2582Thr) rs1060500576
NM_001267550.2(TTN):c.7756dup (p.Ile2586fs) rs1553999983
NM_001267550.2(TTN):c.7762A>T (p.Lys2588Ter) rs1553999955
NM_001267550.2(TTN):c.7789G>T (p.Asp2597Tyr) rs1553999887
NM_001267550.2(TTN):c.78006_78020del (p.Ile26002_Ser26006del) rs1064792913
NM_001267550.2(TTN):c.78118G>A (p.Val26040Ile) rs576341346
NM_001267550.2(TTN):c.7813del (p.Tyr2605fs) rs2154344465
NM_001267550.2(TTN):c.78370A>G (p.Ile26124Val) rs397517713
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn) rs778290450
NM_001267550.2(TTN):c.78466G>T (p.Asp26156Tyr) rs1553595170
NM_001267550.2(TTN):c.7846dup (p.Thr2616fs) rs2154344443
NM_001267550.2(TTN):c.78541C>T (p.Pro26181Ser) rs1553594900
NM_001267550.2(TTN):c.7855+5G>C
NM_001267550.2(TTN):c.7855G>A (p.Gly2619Ser)
NM_001267550.2(TTN):c.7856-1G>T rs2154343384
NM_001267550.2(TTN):c.78637C>T (p.Leu26213Phe) rs1553594441
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln) rs754878387
NM_001267550.2(TTN):c.78707A>T (p.Glu26236Val) rs1559361218
NM_001267550.2(TTN):c.7906G>T (p.Glu2636Ter)
NM_001267550.2(TTN):c.79264A>C (p.Ile26422Leu) rs1553590996
NM_001267550.2(TTN):c.79333C>T (p.Arg26445Cys) rs780658084
NM_001267550.2(TTN):c.7955G>A (p.Trp2652Ter) rs1574584676
NM_001267550.2(TTN):c.79645G>C (p.Glu26549Gln) rs1705910626
NM_001267550.2(TTN):c.79861_79862inv (p.Thr26621Val)
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_001267550.2(TTN):c.79987_79989del (p.Leu26663del) rs1193943076
NM_001267550.2(TTN):c.7999del (p.Ser2667fs)
NM_001267550.2(TTN):c.80159T>C (p.Ile26720Thr) rs879183549
NM_001267550.2(TTN):c.80351C>G (p.Pro26784Arg) rs1553584164
NM_001267550.2(TTN):c.80459A>C (p.Gln26820Pro)
NM_001267550.2(TTN):c.8067T>A (p.Tyr2689Ter)
NM_001267550.2(TTN):c.80876G>A (p.Gly26959Asp) rs768259414
NM_001267550.2(TTN):c.8092del (p.Thr2698fs) rs2154343276
NM_001267550.2(TTN):c.80950G>A (p.Glu26984Lys) rs1060500562
NM_001267550.2(TTN):c.81022T>G (p.Tyr27008Asp) rs72648211
NM_001267550.2(TTN):c.81089CAA[1] (p.Thr27031del) rs1163103954
NM_001267550.2(TTN):c.8116+5G>A rs1561231691
NM_001267550.2(TTN):c.81233C>A (p.Thr27078Asn) rs1553578982
NM_001267550.2(TTN):c.81302G>A (p.Gly27101Asp) rs201490050
NM_001267550.2(TTN):c.8137_8138del (p.Leu2713fs)
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile) rs757768218
NM_001267550.2(TTN):c.81509C>T (p.Pro27170Leu) rs774553407
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.81875C>T (p.Thr27292Ile) rs1060500393
NM_001267550.2(TTN):c.82171T>C (p.Trp27391Arg) rs778983249
NM_001267550.2(TTN):c.82193G>A (p.Gly27398Asp) rs1553574305
NM_001267550.2(TTN):c.8220G>A (p.Trp2740Ter) rs1553995639
NM_001267550.2(TTN):c.82303C>A (p.Leu27435Ile) rs1060500432
NM_001267550.2(TTN):c.82796G>A (p.Gly27599Asp) rs1553571755
NM_001267550.2(TTN):c.82810G>C (p.Gly27604Arg) rs199929362
NM_001267550.2(TTN):c.8285A>T (p.Tyr2762Phe) rs1553995474
NM_001267550.2(TTN):c.8286C>G (p.Tyr2762Ter) rs1574570125
NM_001267550.2(TTN):c.82919C>G (p.Thr27640Ser) rs1553571185
NM_001267550.2(TTN):c.83095A>C (p.Ile27699Leu) rs1553570628
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.83317T>G (p.Leu27773Val) rs376683928
NM_001267550.2(TTN):c.833del (p.Ala278fs)
NM_001267550.2(TTN):c.83590C>T (p.Pro27864Ser) rs1553568366
NM_001267550.2(TTN):c.8365A>T (p.Arg2789Ter) rs1553995241
NM_001267550.2(TTN):c.8380+1G>A rs794729306
NM_001267550.2(TTN):c.8380+5G>T rs2154342828
NM_001267550.2(TTN):c.83939T>C (p.Leu27980Pro) rs1060500536
NM_001267550.2(TTN):c.84004A>C (p.Thr28002Pro) rs369737884
NM_001267550.2(TTN):c.84263G>C (p.Ser28088Thr) rs200450022
NM_001267550.2(TTN):c.84304T>C (p.Trp28102Arg) rs1553565393
NM_001267550.2(TTN):c.84332G>A (p.Arg28111Lys) rs1060500463
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe) rs753201539
NM_001267550.2(TTN):c.8433del (p.Val2812fs) rs2091273665
NM_001267550.2(TTN):c.84353G>A (p.Arg28118His) rs72648220
NM_001267550.2(TTN):c.84794C>A (p.Thr28265Lys) rs376874908
NM_001267550.2(TTN):c.84797_84799del (p.Arg28266del) rs1553564204
NM_001267550.2(TTN):c.848del (p.Pro283fs) rs2154358488
NM_001267550.2(TTN):c.84968A>G (p.Tyr28323Cys) rs1285180382
NM_001267550.2(TTN):c.8497G>T (p.Glu2833Ter) rs1553994874
NM_001267550.2(TTN):c.8500del (p.Ile2834fs)
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85402T>C (p.Cys28468Arg) rs1553563147
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr) rs56330345
NM_001267550.2(TTN):c.85748C>T (p.Ser28583Phe) rs1553562507
NM_001267550.2(TTN):c.8576C>G (p.Ser2859Ter) rs1574564600
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His) rs1477861188
NM_001267550.2(TTN):c.86030T>C (p.Phe28677Ser) rs1553561985
NM_001267550.2(TTN):c.86242A>G (p.Arg28748Gly) rs1553561470
NM_001267550.2(TTN):c.86290T>A (p.Leu28764Met) rs1553561353
NM_001267550.2(TTN):c.86292G>C (p.Leu28764Phe) rs1553561345
NM_001267550.2(TTN):c.86294T>C (p.Ile28765Thr) rs1553561335
NM_001267550.2(TTN):c.86377A>G (p.Thr28793Ala) rs727505234
NM_001267550.2(TTN):c.86417C>T (p.Ser28806Phe) rs1060500445
NM_001267550.2(TTN):c.86419C>T (p.Arg28807Cys) rs765632053
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe) rs794729519
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.86762G>A (p.Gly28921Glu) rs1553559912
NM_001267550.2(TTN):c.86851G>C (p.Val28951Leu) rs878854426
NM_001267550.2(TTN):c.8687C>T (p.Thr2896Ile) rs72647884
NM_001267550.2(TTN):c.87145T>C (p.Phe29049Leu) rs1553556217
NM_001267550.2(TTN):c.87407A>C (p.Asp29136Ala) rs768756948
NM_001267550.2(TTN):c.87535G>C (p.Glu29179Gln) rs1553554743
NM_001267550.2(TTN):c.87733T>C (p.Trp29245Arg) rs771722716
NM_001267550.2(TTN):c.8781dup (p.Lys2928fs)
NM_001267550.2(TTN):c.8789_8796del (p.Val2930fs) rs1574559518
NM_001267550.2(TTN):c.87904A>T (p.Ile29302Phe) rs1553552999
NM_001267550.2(TTN):c.88033A>G (p.Thr29345Ala) rs878854427
NM_001267550.2(TTN):c.88047G>C (p.Lys29349Asn) rs748102856
NM_001267550.2(TTN):c.88106G>A (p.Gly29369Asp) rs55898359
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr) rs767890385
NM_001267550.2(TTN):c.88238G>A (p.Arg29413Lys) rs1553551467
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu) rs397517763
NM_001267550.2(TTN):c.8858_8859del (p.Phe2953fs) rs2154342483
NM_001267550.2(TTN):c.88593T>C (p.Leu29531=) rs1553547141
NM_001267550.2(TTN):c.88594+5G>T
NM_001267550.2(TTN):c.88595-6T>G rs1553546842
NM_001267550.2(TTN):c.88595-9C>G rs1559233127
NM_001267550.2(TTN):c.88694A>C (p.Lys29565Thr) rs1263180064
NM_001267550.2(TTN):c.88708A>C (p.Ile29570Leu) rs139506970
NM_001267550.2(TTN):c.88781C>A (p.Thr29594Lys) rs1553545836
NM_001267550.2(TTN):c.88829C>A (p.Ala29610Asp) rs1060500410
NM_001267550.2(TTN):c.88836C>A (p.Asn29612Lys) rs767347782
NM_001267550.2(TTN):c.8884del (p.Ala2962fs) rs794729372
NM_001267550.2(TTN):c.88851C>T (p.Gly29617=) rs201241167
NM_001267550.2(TTN):c.88877T>C (p.Val29626Ala) rs766178585
NM_001267550.2(TTN):c.88894+5G>A rs2154152920
NM_001267550.2(TTN):c.89018G>T (p.Arg29673Leu) rs200639218
NM_001267550.2(TTN):c.89024AGA[1] (p.Lys29676del) rs771616392
NM_001267550.2(TTN):c.8902C>G (p.Pro2968Ala) rs773875566
NM_001267550.2(TTN):c.8903-2A>T
NM_001267550.2(TTN):c.89195T>A (p.Ile29732Asn) rs769020530
NM_001267550.2(TTN):c.89197+2dup rs2154152416
NM_001267550.2(TTN):c.89197+5G>A rs1060500534
NM_001267550.2(TTN):c.89494G>C (p.Asp29832His) rs878854430
NM_001267550.2(TTN):c.89500C>G (p.Leu29834Val) rs761591533
NM_001267550.2(TTN):c.89503+5G>T rs2154152059
NM_001267550.2(TTN):c.89704G>A (p.Val29902Ile)
NM_001267550.2(TTN):c.89776G>A (p.Val29926Met) rs1553541468
NM_001267550.2(TTN):c.8989A>G (p.Ile2997Val) rs879242806
NM_001267550.2(TTN):c.89953C>T (p.His29985Tyr) rs557248616
NM_001267550.2(TTN):c.8997del (p.Ser2998_Tyr2999insTer)
NM_001267550.2(TTN):c.89G>A (p.Ser30Asn) rs767153909
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val) rs777636306
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe) rs750520740
NM_001267550.2(TTN):c.9047del (p.Met3016fs)
NM_001267550.2(TTN):c.9050del (p.Arg3017fs)
NM_001267550.2(TTN):c.90512C>T (p.Pro30171Leu) rs2154151253
NM_001267550.2(TTN):c.90614T>C (p.Ile30205Thr) rs1283032526
NM_001267550.2(TTN):c.90656T>A (p.Val30219Asp) rs1060500535
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.90814T>A (p.Trp30272Arg) rs777716014
NM_001267550.2(TTN):c.90819G>T (p.Lys30273Asn) rs1307577297
NM_001267550.2(TTN):c.90941G>C (p.Ser30314Thr) rs763875418
NM_001267550.2(TTN):c.90944T>C (p.Ile30315Thr) rs755698637
NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr) rs11887722
NM_001267550.2(TTN):c.91+1G>A rs2154360987
NM_001267550.2(TTN):c.91+5G>T
NM_001267550.2(TTN):c.91270+4A>G rs1699482474
NM_001267550.2(TTN):c.91288G>A (p.Asp30430Asn) rs1060500406
NM_001267550.2(TTN):c.914+3A>G
NM_001267550.2(TTN):c.914+4A>C
NM_001267550.2(TTN):c.915-2A>G
NM_001267550.2(TTN):c.91542TAT[1] (p.Ile30515del) rs748002494
NM_001267550.2(TTN):c.91564+5G>A rs758591518
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_001267550.2(TTN):c.9164-1G>A rs2090846146
NM_001267550.2(TTN):c.91707G>C (p.Lys30569Asn) rs1060500543
NM_001267550.2(TTN):c.91753T>G (p.Phe30585Val) rs1060500507
NM_001267550.2(TTN):c.91760_91762del (p.Arg30587_Asp30588delinsAsn) rs1060500517
NM_001267550.2(TTN):c.91852+3A>G
NM_001267550.2(TTN):c.9192del (p.Lys3065fs)
NM_001267550.2(TTN):c.91999T>C (p.Trp30667Arg) rs72648246
NM_001267550.2(TTN):c.92-1G>A
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter) rs780706937
NM_001267550.2(TTN):c.92350G>C (p.Gly30784Arg) rs979303656
NM_001267550.2(TTN):c.92417C>A (p.Ala30806Glu) rs1060500407
NM_001267550.2(TTN):c.92434C>A (p.Leu30812Ile) rs776239659
NM_001267550.2(TTN):c.92691T>A (p.Ser30897Arg) rs1553532921
NM_001267550.2(TTN):c.9270G>A (p.Trp3090Ter) rs2154341535
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.9291_9292delinsTT (p.Gln3098Ter) rs1574528825
NM_001267550.2(TTN):c.92944A>G (p.Thr30982Ala) rs1060500555
NM_001267550.2(TTN):c.92979A>C (p.Lys30993Asn) rs754893239
NM_001267550.2(TTN):c.93040C>G (p.Leu31014Val) rs1060500404
NM_001267550.2(TTN):c.93047C>T (p.Thr31016Ile) rs1553531270
NM_001267550.2(TTN):c.9305+4A>G rs746628782
NM_001267550.2(TTN):c.93105G>T (p.Leu31035Phe) rs1553531017
NM_001267550.2(TTN):c.93130G>T (p.Gly31044Cys) rs750213547
NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys) rs750303653
NM_001267550.2(TTN):c.9325A>T (p.Lys3109Ter)
NM_001267550.2(TTN):c.93601T>C (p.Phe31201Leu) rs1553528695
NM_001267550.2(TTN):c.93607T>C (p.Ser31203Pro) rs1553528649
NM_001267550.2(TTN):c.93646G>A (p.Asp31216Asn) rs1321355074
NM_001267550.2(TTN):c.93665A>G (p.Asn31222Ser) rs1559164640
NM_001267550.2(TTN):c.93680G>A (p.Cys31227Tyr) rs1260979974
NM_001267550.2(TTN):c.93692G>A (p.Ser31231Asn) rs1060500565
NM_001267550.2(TTN):c.9372dup (p.Gly3125fs)
NM_001267550.2(TTN):c.93988T>C (p.Trp31330Arg) rs1553527043
NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu) rs794729536
NM_001267550.2(TTN):c.94180C>T (p.Pro31394Ser) rs1321500671
NM_001267550.2(TTN):c.9420_9421del (p.Phe3141fs) rs2154341414
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.94282C>T (p.Arg31428Cys) rs190282707
NM_001267550.2(TTN):c.94349G>A (p.Arg31450His) rs751985617
NM_001267550.2(TTN):c.94399A>C (p.Asn31467His) rs1553524710
NM_001267550.2(TTN):c.94436A>G (p.Tyr31479Cys) rs879013044
NM_001267550.2(TTN):c.9448C>G (p.Arg3150Gly) rs146572907
NM_001267550.2(TTN):c.94522+5G>T rs767084102
NM_001267550.2(TTN):c.94523A>G (p.Asp31508Gly) rs772571812
NM_001267550.2(TTN):c.9461del (p.Lys3154fs) rs2154341391
NM_001267550.2(TTN):c.9472-1G>C
NM_001267550.2(TTN):c.9472-1G>T
NM_001267550.2(TTN):c.95146A>G (p.Thr31716Ala) rs1575444115
NM_001267550.2(TTN):c.95152A>C (p.Ser31718Arg) rs781462223
NM_001267550.2(TTN):c.95158G>A (p.Val31720Ile) rs1575443877
NM_001267550.2(TTN):c.95173T>C (p.Cys31725Arg)
NM_001267550.2(TTN):c.95174G>A (p.Cys31725Tyr)
NM_001267550.2(TTN):c.95179T>G (p.Leu31727Val)
NM_001267550.2(TTN):c.95182G>A (p.Ala31728Thr)
NM_001267550.2(TTN):c.95188A>T (p.Ser31730Cys) rs1213250473
NM_001267550.2(TTN):c.95190C>A (p.Ser31730Arg) rs1696951026
NM_001267550.2(TTN):c.95191C>T (p.Leu31731Phe) rs1364685585
NM_001267550.2(TTN):c.95206G>A (p.Gly31736Arg) rs771799061
NM_001267550.2(TTN):c.95207G>C (p.Gly31736Ala) rs1401862112
NM_001267550.2(TTN):c.95222C>T (p.Thr31741Ile) rs1553521179
NM_001267550.2(TTN):c.95224C>G (p.His31742Asp)
NM_001267550.2(TTN):c.95240G>A (p.Arg31747Lys)
NM_001267550.2(TTN):c.95258T>C (p.Leu31753Pro)
NM_001267550.2(TTN):c.95265G>T (p.Trp31755Cys)
NM_001267550.2(TTN):c.95272G>C (p.Val31758Leu) rs1696907299
NM_001267550.2(TTN):c.95279G>A (p.Gly31760Asp) rs1696902914
NM_001267550.2(TTN):c.95290A>G (p.Thr31764Ala) rs1175551497
NM_001267550.2(TTN):c.95300A>G (p.Tyr31767Cys) rs1431446089
NM_001267550.2(TTN):c.95302G>A (p.Val31768Ile)
NM_001267550.2(TTN):c.95302G>C (p.Val31768Leu) rs1696890603
NM_001267550.2(TTN):c.95314C>T (p.Leu31772Phe) rs2154145497
NM_001267550.2(TTN):c.95326A>T (p.Asn31776Tyr) rs2154145486
NM_001267550.2(TTN):c.95327A>G (p.Asn31776Ser) rs1696881072
NM_001267550.2(TTN):c.95335A>C (p.Ile31779Leu) rs886039071
NM_001267550.2(TTN):c.9533A>T (p.His3178Leu) rs1334781459
NM_001267550.2(TTN):c.95342G>C (p.Arg31781Pro) rs748984928
NM_001267550.2(TTN):c.95350G>A (p.Ala31784Thr)
NM_001267550.2(TTN):c.95351C>A (p.Ala31784Glu)
NM_001267550.2(TTN):c.95353G>A (p.Val31785Ile)
NM_001267550.2(TTN):c.95357A>G (p.Asn31786Ser) rs1696865626
NM_001267550.2(TTN):c.95361A>T (p.Lys31787Asn)
NM_001267550.2(TTN):c.95368C>G (p.Pro31790Ala)
NM_001267550.2(TTN):c.95371G>C (p.Gly31791Arg) rs1696856005
NM_001267550.2(TTN):c.95372G>C (p.Gly31791Ala) rs869320744
NM_001267550.2(TTN):c.95374G>A (p.Val31792Met)
NM_001267550.2(TTN):c.95375T>G (p.Val31792Gly)
NM_001267550.2(TTN):c.95377C>A (p.Pro31793Thr) rs1466581888
NM_001267550.2(TTN):c.9538T>C (p.Tyr3180His) rs1553987902
NM_001267550.2(TTN):c.95404A>G (p.Arg31802Gly)
NM_001267550.2(TTN):c.95415C>G (p.Phe31805Leu) rs587780983
NM_001267550.2(TTN):c.95416+5G>T rs1696830213
NM_001267550.2(TTN):c.95480A>T (p.Gln31827Leu) rs1553520567
NM_001267550.2(TTN):c.95484G>C (p.Trp31828Cys) rs1553520556
NM_001267550.2(TTN):c.9548del (p.Gly3183fs) rs2090460301
NM_001267550.2(TTN):c.9551T>C (p.Ile3184Thr) rs1553987863
NM_001267550.2(TTN):c.95540G>C (p.Arg31847Pro) rs771179752
NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del) rs727504556
NM_001267550.2(TTN):c.95560T>C (p.Trp31854Arg)
NM_001267550.2(TTN):c.95698T>C (p.Phe31900Leu) rs1553520146
NM_001267550.2(TTN):c.9571C>A (p.Gln3191Lys) rs33997263
NM_001267550.2(TTN):c.95722+3G>T
NM_001267550.2(TTN):c.95931G>A (p.Met31977Ile) rs1575423808
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met) rs727503541
NM_001267550.2(TTN):c.96011A>G (p.Glu32004Gly) rs1553519065
NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg) rs375368824
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.96378G>C (p.Trp32126Cys) rs794729542
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr) rs978818932
NM_001267550.2(TTN):c.96406C>T (p.Pro32136Ser) rs1553518099
NM_001267550.2(TTN):c.96445A>G (p.Met32149Val) rs972033083
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro) rs2154143527
NM_001267550.2(TTN):c.9657del (p.Phe3220fs)
NM_001267550.2(TTN):c.96676C>A (p.Pro32226Thr) rs1060500595
NM_001267550.2(TTN):c.96743G>A (p.Arg32248Lys) rs967418486
NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys) rs1060500512
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) rs1339368168
NM_001267550.2(TTN):c.9703+5G>A rs2090429977
NM_001267550.2(TTN):c.97054C>G (p.Arg32352Gly) rs753874904
NM_001267550.2(TTN):c.9718dup (p.Gln3240fs)
NM_001267550.2(TTN):c.97192+5G>A rs2154142801
NM_001267550.2(TTN):c.97204_97205delinsAG (p.Pro32402Arg) rs864622675
NM_001267550.2(TTN):c.97283G>A (p.Gly32428Asp) rs1060500592
NM_001267550.2(TTN):c.97318C>T (p.Arg32440Cys) rs759932470
NM_001267550.2(TTN):c.97592T>C (p.Val32531Ala) rs1060500477
NM_001267550.2(TTN):c.9761A>C (p.Lys3254Thr) rs766499138
NM_001267550.2(TTN):c.97795G>A (p.Ala32599Thr) rs1694398754
NM_001267550.2(TTN):c.97888T>G (p.Ser32630Ala) rs1553512070
NM_001267550.2(TTN):c.97978T>G (p.Tyr32660Asp) rs781416687
NM_001267550.2(TTN):c.97992C>A (p.His32664Gln) rs794729549
NM_001267550.2(TTN):c.98051G>C (p.Gly32684Ala) rs774041992
NM_001267550.2(TTN):c.98164A>C (p.Ile32722Leu) rs72648270
NM_001267550.2(TTN):c.98214G>C (p.Trp32738Cys) rs764039252
NM_001267550.2(TTN):c.98218A>G (p.Lys32740Glu) rs1553510781
NM_001267550.2(TTN):c.98299A>G (p.Arg32767Gly) rs1553510330
NM_001267550.2(TTN):c.9829C>T (p.Gln3277Ter)
NM_001267550.2(TTN):c.9841_9842del (p.Thr3281fs) rs2090036916
NM_001267550.2(TTN):c.9849C>G (p.Phe3283Leu) rs780860026
NM_001267550.2(TTN):c.98515C>A (p.Pro32839Thr) rs949917519
NM_001267550.2(TTN):c.98683+3A>C rs1693285723
NM_001267550.2(TTN):c.98683+3A>G rs1693285723
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp) rs755031142
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99080G>A (p.Gly33027Asp) rs1060500594
NM_001267550.2(TTN):c.99162G>C (p.Lys33054Asn) rs368686031
NM_001267550.2(TTN):c.99197C>G (p.Ala33066Gly) rs1172364516
NM_001267550.2(TTN):c.99277A>T (p.Thr33093Ser) rs748796464
NM_001267550.2(TTN):c.9932_9935del (p.Thr3310_Cys3311insTer) rs2090019809
NM_001267550.2(TTN):c.99515C>A (p.Thr33172Asn) rs1060500510
NM_001267550.2(TTN):c.99536T>A (p.Val33179Asp) rs576759867
NM_001267550.2(TTN):c.99569T>G (p.Leu33190Arg) rs1553504950
NM_001267550.2(TTN):c.99631G>A (p.Gly33211Ser) rs1553504771
NM_001267550.2(TTN):c.99727A>G (p.Ile33243Val) rs1553504488
NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys) rs758792040
NM_001267550.2(TTN):c.99865+3A>T rs1692081223
NM_001267550.2(TTN):c.9988G>T (p.Val3330Phe) rs2090011986
NM_001271208.1(NEB):c.21213_21218del rs1553683577
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
NM_001368067.1(LDB3):c.322-1G>A
NM_001368067.1(LDB3):c.323T>C (p.Val108Ala)
NM_001368067.1(LDB3):c.326T>G (p.Val109Gly) rs2132390366
NM_001368067.1(LDB3):c.332A>G (p.Asn111Ser) rs1845427971
NM_001368067.1(LDB3):c.338C>T (p.Pro113Leu)
NM_001368067.1(LDB3):c.344+2T>C rs1264291601
NM_001368067.1(LDB3):c.349G>C (p.Asp117His) rs121908338
NM_001368067.1(LDB3):c.353A>C (p.Tyr118Ser) rs1845519689
NM_001368067.1(LDB3):c.355C>T (p.Gln119Ter) rs1564639205
NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys) rs773370724
NM_001368067.1(LDB3):c.364T>A (p.Phe122Ile) rs1845520743
NM_001368067.1(LDB3):c.369C>A (p.Asn123Lys)
NM_001368067.1(LDB3):c.371C>T (p.Pro124Leu)
NM_001368067.1(LDB3):c.374G>A (p.Ser125Asn)
NM_001368067.1(LDB3):c.382A>C (p.Lys128Gln) rs2132396809
NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu)
NM_001368067.1(LDB3):c.405C>G (p.His135Gln) rs928294708
NM_001368067.1(LDB3):c.410C>A (p.Pro137His)
NM_001368067.1(LDB3):c.413T>A (p.Ile138Asn)
NM_001368067.1(LDB3):c.433G>C (p.Gly145Arg)
NM_001368067.1(LDB3):c.452A>G (p.His151Arg)
NM_001368067.1(LDB3):c.467C>T (p.Thr156Met) rs778658354
NM_001368067.1(LDB3):c.472A>G (p.Ile158Val) rs1845528164
NM_001368067.1(LDB3):c.480G>A (p.Met160Ile) rs1413446799
NM_001368067.1(LDB3):c.490G>A (p.Asp164Asn)
NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)
NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)
NM_001368067.1(LDB3):c.511G>T (p.Ala171Ser) rs373632943
NM_001368067.1(LDB3):c.772G>A (p.Glu258Lys) rs868365512
NM_001368067.1(LDB3):c.775C>T (p.Arg259Cys)
NM_001368067.1(LDB3):c.779A>C (p.Asn260Thr)
NM_001368067.1(LDB3):c.779A>G (p.Asn260Ser) rs1299041306
NM_001368067.1(LDB3):c.779A>T (p.Asn260Ile) rs1299041306
NM_001368067.1(LDB3):c.790T>A (p.Phe264Ile)
NM_001368067.1(LDB3):c.802C>G (p.Arg268Gly) rs121908335
NM_001368067.1(LDB3):c.810G>A (p.Trp270Ter) rs1428065968
NM_001368067.1(LDB3):c.829C>A (p.Gln277Lys)
NM_001368067.1(LDB3):c.830A>C (p.Gln277Pro) rs1589656313
NM_001368067.1(LDB3):c.841G>A (p.Val281Ile) rs1846156698
NM_001368067.1(LDB3):c.847del (p.Ser283fs)
NM_001368067.1(LDB3):c.848G>A (p.Ser283Asn)
NM_001378030.1(CCDC78):c.1003G>C (p.Glu335Gln)
NM_001378030.1(CCDC78):c.1012C>A (p.Pro338Thr) rs951170993
NM_001378030.1(CCDC78):c.1015G>T (p.Val339Leu) rs759037918
NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu) rs2040894714
NM_001378030.1(CCDC78):c.1033T>C (p.Phe345Leu) rs2040580658
NM_001378030.1(CCDC78):c.1037G>A (p.Ser346Asn)
NM_001378030.1(CCDC78):c.1042C>T (p.Arg348Trp)
NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu) rs142170929
NM_001378030.1(CCDC78):c.1053G>A (p.Gln351=)
NM_001378030.1(CCDC78):c.1066G>A (p.Gly356Arg)
NM_001378030.1(CCDC78):c.1067G>A (p.Gly356Glu) rs1567315670
NM_001378030.1(CCDC78):c.1070C>A (p.Ala357Glu)
NM_001378030.1(CCDC78):c.1070C>T (p.Ala357Val) rs767325446
NM_001378030.1(CCDC78):c.1075C>G (p.Leu359Val)
NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser) rs2040893951
NM_001378030.1(CCDC78):c.1081T>C (p.Ser361Pro)
NM_001378030.1(CCDC78):c.1099G>A (p.Gly367Ser) rs1021626011
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1114G>C (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1133+3G>C
NM_001378030.1(CCDC78):c.1133+5G>C rs751889492
NM_001378030.1(CCDC78):c.1144G>A (p.Ala382Thr)
NM_001378030.1(CCDC78):c.1174C>T (p.Leu392Phe)
NM_001378030.1(CCDC78):c.1178G>C (p.Arg393Pro) rs376513788
NM_001378030.1(CCDC78):c.1180G>A (p.Asp394Asn)
NM_001378030.1(CCDC78):c.1181A>G (p.Asp394Gly)
NM_001378030.1(CCDC78):c.1187C>G (p.Ser396Cys)
NM_001378030.1(CCDC78):c.1190G>C (p.Arg397Pro)
NM_001378030.1(CCDC78):c.1200+14_1200+18del
NM_001378030.1(CCDC78):c.1277A>C (p.Glu426Ala) rs761180576
NM_001378030.1(CCDC78):c.1287C>T (p.Asp429=) rs1403494570
NM_001378030.1(CCDC78):c.1292A>G (p.His431Arg)
NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp)
NM_001378030.1(CCDC78):c.1307A>G (p.Lys436Arg)
NM_001378030.1(CCDC78):c.1308G>A (p.Lys436=)
NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln)
NM_001378030.1(CCDC78):c.1311C>T (p.His437=) rs775569629
NM_001378030.1(CCDC78):c.139G>A (p.Val47Ile) rs892740041
NM_001378030.1(CCDC78):c.13G>C (p.Ala5Pro)
NM_001378030.1(CCDC78):c.14C>T (p.Ala5Val) rs2151579428
NM_001378030.1(CCDC78):c.15dup (p.Thr6fs) rs1389255956
NM_001378030.1(CCDC78):c.178C>G (p.Gln60Glu)
NM_001378030.1(CCDC78):c.180+3G>T rs1483977509
NM_001378030.1(CCDC78):c.191_194dup (p.Val66fs) rs2040863479
NM_001378030.1(CCDC78):c.197T>G (p.Val66Gly)
NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn) rs374105211
NM_001378030.1(CCDC78):c.20C>T (p.Thr7Ile)
NM_001378030.1(CCDC78):c.220C>T (p.His74Tyr) rs1248260858
NM_001378030.1(CCDC78):c.224T>C (p.Leu75Pro)
NM_001378030.1(CCDC78):c.229G>A (p.Glu77Lys)
NM_001378030.1(CCDC78):c.252C>G (p.Phe84Leu) rs766553371
NM_001378030.1(CCDC78):c.253C>T (p.Gln85Ter)
NM_001378030.1(CCDC78):c.259A>G (p.Lys87Glu)
NM_001378030.1(CCDC78):c.265G>A (p.Glu89Lys)
NM_001378030.1(CCDC78):c.267+1G>A
NM_001378030.1(CCDC78):c.267G>A (p.Glu89=) rs1246932109
NM_001378030.1(CCDC78):c.268-2_272del
NM_001378030.1(CCDC78):c.26C>T (p.Pro9Leu) rs1432188387
NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln) rs766279961
NM_001378030.1(CCDC78):c.285C>G (p.Ser95Arg)
NM_001378030.1(CCDC78):c.287G>A (p.Arg96Gln)
NM_001378030.1(CCDC78):c.295GAGCTG[3] (p.Leu102_Arg103insGluLeu)
NM_001378030.1(CCDC78):c.310G>T (p.Gly104Ter)
NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter) rs1042253618
NM_001378030.1(CCDC78):c.328G>A (p.Gly110Ser)
NM_001378030.1(CCDC78):c.329G>A (p.Gly110Asp)
NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val) rs369153172
NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg) rs749051279
NM_001378030.1(CCDC78):c.356C>A (p.Pro119His) rs750379614
NM_001378030.1(CCDC78):c.356C>G (p.Pro119Arg) rs750379614
NM_001378030.1(CCDC78):c.371C>A (p.Ala124Glu)
NM_001378030.1(CCDC78):c.377C>T (p.Ala126Val)
NM_001378030.1(CCDC78):c.385C>A (p.Leu129Ile)
NM_001378030.1(CCDC78):c.400del (p.Gln134fs) rs758119082
NM_001378030.1(CCDC78):c.402G>A (p.Gln134=)
NM_001378030.1(CCDC78):c.406C>T (p.Pro136Ser)
NM_001378030.1(CCDC78):c.416C>T (p.Ser139Phe) rs374382609
NM_001378030.1(CCDC78):c.426_427del (p.His142fs)
NM_001378030.1(CCDC78):c.439C>T (p.Gln147Ter)
NM_001378030.1(CCDC78):c.463G>A (p.Glu155Lys) rs369344548
NM_001378030.1(CCDC78):c.467A>G (p.Asn156Ser) rs2151564305
NM_001378030.1(CCDC78):c.46C>G (p.Arg16Gly) rs746792512
NM_001378030.1(CCDC78):c.46C>T (p.Arg16Trp) rs746792512
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)
NM_001378030.1(CCDC78):c.47G>C (p.Arg16Pro) rs117949611
NM_001378030.1(CCDC78):c.488del (p.Ser163fs)
NM_001378030.1(CCDC78):c.493C>T (p.Leu165=) rs1361254201
NM_001378030.1(CCDC78):c.499G>A (p.Gly167Arg) rs2040740740
NM_001378030.1(CCDC78):c.49C>G (p.Arg17Gly)
NM_001378030.1(CCDC78):c.502G>C (p.Glu168Gln) rs777794522
NM_001378030.1(CCDC78):c.508_512del (p.Lys170fs) rs1466789176
NM_001378030.1(CCDC78):c.509A>G (p.Lys170Arg) rs1555486210
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln) rs1046402338
NM_001378030.1(CCDC78):c.50G>C (p.Arg17Pro)
NM_001378030.1(CCDC78):c.50G>T (p.Arg17Leu) rs1046402338
NM_001378030.1(CCDC78):c.515C>T (p.Ala172Val)
NM_001378030.1(CCDC78):c.517C>G (p.Leu173Val)
NM_001378030.1(CCDC78):c.545C>T (p.Ala182Val) rs1000549010
NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg) rs2151561882
NM_001378030.1(CCDC78):c.553_554delinsTA (p.Thr185Ter)
NM_001378030.1(CCDC78):c.560_560+3del
NM_001378030.1(CCDC78):c.571_582del (p.Gly191_Leu194del) rs1035417733
NM_001378030.1(CCDC78):c.598G>A (p.Glu200Lys) rs1031306587
NM_001378030.1(CCDC78):c.60+2T>C rs1289274795
NM_001378030.1(CCDC78):c.60+3G>A
NM_001378030.1(CCDC78):c.61-13G>A
NM_001378030.1(CCDC78):c.61-16G>A
NM_001378030.1(CCDC78):c.61-2A>G
NM_001378030.1(CCDC78):c.61-6C>A
NM_001378030.1(CCDC78):c.611C>A (p.Ala204Asp) rs2040706093
NM_001378030.1(CCDC78):c.616C>T (p.Gln206Ter)
NM_001378030.1(CCDC78):c.620G>C (p.Arg207Pro)
NM_001378030.1(CCDC78):c.639+4A>G
NM_001378030.1(CCDC78):c.667C>T (p.Arg223Cys)
NM_001378030.1(CCDC78):c.668G>T (p.Arg223Leu)
NM_001378030.1(CCDC78):c.671A>G (p.Gln224Arg)
NM_001378030.1(CCDC78):c.679G>T (p.Ala227Ser)
NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr)
NM_001378030.1(CCDC78):c.691C>G (p.Arg231Gly) rs527479144
NM_001378030.1(CCDC78):c.691C>T (p.Arg231Trp)
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu) rs147504073
NM_001378030.1(CCDC78):c.703_708dup (p.233QL[3]) rs1392358219
NM_001378030.1(CCDC78):c.71G>A (p.Arg24Gln)
NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp) rs749095737
NM_001378030.1(CCDC78):c.752C>A (p.Ala251Asp)
NM_001378030.1(CCDC78):c.758A>G (p.Gln253Arg) rs1438721597
NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr) rs1160240030
NM_001378030.1(CCDC78):c.771C>G (p.His257Gln) rs747763912
NM_001378030.1(CCDC78):c.778G>A (p.Gly260Ser)
NM_001378030.1(CCDC78):c.782C>G (p.Ala261Gly) rs1328091861
NM_001378030.1(CCDC78):c.791C>T (p.Ala264Val)
NM_001378030.1(CCDC78):c.805del (p.Ala269fs)
NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly) rs2040895994
NM_001378030.1(CCDC78):c.838G>A (p.Asp280Asn)
NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly) rs747752625
NM_001378030.1(CCDC78):c.860G>A (p.Ser287Asn)
NM_001378030.1(CCDC78):c.860G>C (p.Ser287Thr) rs1688583528
NM_001378030.1(CCDC78):c.862C>A (p.Arg288Ser)
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr) rs770130604
NM_001378030.1(CCDC78):c.897C>A (p.Tyr299Ter) rs1203607617
NM_001378030.1(CCDC78):c.898_900del (p.His300del) rs771582682
NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg) rs2040618422
NM_001378030.1(CCDC78):c.913G>T (p.Asp305Tyr)
NM_001378030.1(CCDC78):c.922_923delinsGA (p.Arg308Asp)
NM_001378030.1(CCDC78):c.924C>T (p.Arg308=) rs2040615574
NM_001378030.1(CCDC78):c.929A>G (p.His310Arg) rs2040614811
NM_001378030.1(CCDC78):c.947C>T (p.Ala316Val) rs2151553309
NM_001378030.1(CCDC78):c.94G>A (p.Ala32Thr)
NM_001378030.1(CCDC78):c.953+3G>A rs2040612115
NM_001378030.1(CCDC78):c.953+4G>A
NM_001378030.1(CCDC78):c.954G>A (p.Arg318=) rs2040592459
NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys) rs2040592043
NM_001378030.1(CCDC78):c.958C>T (p.Pro320Ser)
NM_001378030.1(CCDC78):c.986T>C (p.Ile329Thr)
NM_001378030.1(CCDC78):c.991A>G (p.Ser331Gly)
NM_001378030.1(CCDC78):c.999C>G (p.Asp333Glu) rs1450643801
NM_001382567.1(STIM1):c.100A>T (p.Thr34Ser) rs1565091023
NM_001382567.1(STIM1):c.1010C>G (p.Ser337Cys) rs1038392859
NM_001382567.1(STIM1):c.101C>G (p.Thr34Ser)
NM_001382567.1(STIM1):c.101C>T (p.Thr34Ile) rs771348972
NM_001382567.1(STIM1):c.1031C>T (p.Pro344Leu) rs2094469076
NM_001382567.1(STIM1):c.1036G>A (p.Ala346Thr)
NM_001382567.1(STIM1):c.1063C>G (p.His355Asp)
NM_001382567.1(STIM1):c.1063C>T (p.His355Tyr) rs2094469160
NM_001382567.1(STIM1):c.1069G>T (p.Val357Leu) rs918568638
NM_001382567.1(STIM1):c.1079_1080delinsGG (p.Gln360Arg) rs2094469326
NM_001382567.1(STIM1):c.107C>G (p.Ser36Trp)
NM_001382567.1(STIM1):c.1123G>C (p.Val375Leu)
NM_001382567.1(STIM1):c.112G>A (p.Ala38Thr)
NM_001382567.1(STIM1):c.1135G>C (p.Gly379Arg) rs201447973
NM_001382567.1(STIM1):c.1138G>A (p.Ala380Thr)
NM_001382567.1(STIM1):c.1148T>C (p.Ile383Thr)
NM_001382567.1(STIM1):c.116A>G (p.Asn39Ser) rs2135171193
NM_001382567.1(STIM1):c.1180T>C (p.Phe394Leu) rs771694025
NM_001382567.1(STIM1):c.1184A>G (p.His395Arg) rs1565170778
NM_001382567.1(STIM1):c.1196G>A (p.Ser399Asn) rs2094473055
NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile)
NM_001382567.1(STIM1):c.1232C>G (p.Thr411Arg)
NM_001382567.1(STIM1):c.1239G>A (p.Lys413=)
NM_001382567.1(STIM1):c.124G>A (p.Glu42Lys) rs2135171279
NM_001382567.1(STIM1):c.1250G>A (p.Ser417Asn) rs1025014749
NM_001382567.1(STIM1):c.1271G>A (p.Arg424Gln)
NM_001382567.1(STIM1):c.1276C>T (p.Arg426Cys) rs1057519505
NM_001382567.1(STIM1):c.127T>C (p.Ser43Pro) rs947448351
NM_001382567.1(STIM1):c.1296G>T (p.Gln432His) rs2133226066
NM_001382567.1(STIM1):c.1300G>A (p.Glu434Lys)
NM_001382567.1(STIM1):c.1334C>T (p.Pro445Leu) rs925534511
NM_001382567.1(STIM1):c.1342C>T (p.His448Tyr)
NM_001382567.1(STIM1):c.134C>G (p.Ala45Gly)
NM_001382567.1(STIM1):c.1357G>T (p.Ala453Ser)
NM_001382567.1(STIM1):c.1367T>C (p.Ile456Thr) rs371655991
NM_001382567.1(STIM1):c.1371C>A (p.Asp457Glu) rs777537168
NM_001382567.1(STIM1):c.1371C>G (p.Asp457Glu) rs777537168
NM_001382567.1(STIM1):c.1377C>G (p.Ser459Arg) rs1565171050
NM_001382567.1(STIM1):c.1378T>G (p.Trp460Gly) rs2094475504
NM_001382567.1(STIM1):c.139+4A>G rs755753617
NM_001382567.1(STIM1):c.1396C>T (p.Pro466Ser) rs2133226679
NM_001382567.1(STIM1):c.13G>A (p.Val5Ile) rs150529970
NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)
NM_001382567.1(STIM1):c.1436A>G (p.Asp479Gly)
NM_001382567.1(STIM1):c.143T>A (p.Phe48Tyr)
NM_001382567.1(STIM1):c.1453G>A (p.Val485Met)
NM_001382567.1(STIM1):c.1457C>T (p.Ser486Phe) rs2133227042
NM_001382567.1(STIM1):c.1459C>G (p.Pro487Ala)
NM_001382567.1(STIM1):c.1459C>T (p.Pro487Ser) rs2094476134
NM_001382567.1(STIM1):c.146G>A (p.Cys49Tyr) rs1590608659
NM_001382567.1(STIM1):c.1474+16_1474+17delinsTG
NM_001382567.1(STIM1):c.1474+17_1474+18delinsGT
NM_001382567.1(STIM1):c.1474+7G>A
NM_001382567.1(STIM1):c.1580A>G (p.Gln527Arg)
NM_001382567.1(STIM1):c.1583G>A (p.Ser528Asn)
NM_001382567.1(STIM1):c.1586G>C (p.Ser529Thr)
NM_001382567.1(STIM1):c.1592G>A (p.Arg531Gln)
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys) rs753214223
NM_001382567.1(STIM1):c.1598G>A (p.Arg533His) rs555016539
NM_001382567.1(STIM1):c.1601T>C (p.Leu534Pro) rs1565172165
NM_001382567.1(STIM1):c.1609C>G (p.Pro537Ala) rs1228842060
NM_001382567.1(STIM1):c.1609C>T (p.Pro537Ser)
NM_001382567.1(STIM1):c.160C>A (p.Pro54Thr)
NM_001382567.1(STIM1):c.1612C>G (p.Gln538Glu) rs2133240605
NM_001382567.1(STIM1):c.1613A>G (p.Gln538Arg)
NM_001382567.1(STIM1):c.1628C>T (p.Ser543Phe)
NM_001382567.1(STIM1):c.1632G>C (p.Gln544His) rs2094494375
NM_001382567.1(STIM1):c.1634+1G>T rs1427379864
NM_001382567.1(STIM1):c.1642A>G (p.Thr548Ala)
NM_001382567.1(STIM1):c.1646A>C (p.His549Pro) rs751432488
NM_001382567.1(STIM1):c.1649C>A (p.Ser550Tyr) rs1590703131
NM_001382567.1(STIM1):c.1673T>A (p.Met558Lys)
NM_001382567.1(STIM1):c.1675A>G (p.Ser559Gly) rs2094523397
NM_001382567.1(STIM1):c.1688G>C (p.Arg563Pro) rs771442242
NM_001382567.1(STIM1):c.1694C>T (p.Ala565Val) rs1382628661
NM_001382567.1(STIM1):c.1703C>G (p.Pro568Arg)
NM_001382567.1(STIM1):c.1703CTC[1] (p.Pro569del) rs754674804
NM_001382567.1(STIM1):c.1717C>A (p.Arg573Ser)
NM_001382567.1(STIM1):c.1717C>T (p.Arg573Cys) rs370846246
NM_001382567.1(STIM1):c.1738A>G (p.Asn580Asp) rs755851829
NM_001382567.1(STIM1):c.1744A>G (p.Met582Val)
NM_001382567.1(STIM1):c.1745T>C (p.Met582Thr)
NM_001382567.1(STIM1):c.1757G>T (p.Gly586Val) rs200525396
NM_001382567.1(STIM1):c.1762C>A (p.His588Asn)
NM_001382567.1(STIM1):c.1775A>G (p.Glu592Gly) rs2133264174
NM_001382567.1(STIM1):c.1790G>A (p.Gly597Glu)
NM_001382567.1(STIM1):c.1793C>A (p.Ser598Tyr) rs201520428
NM_001382567.1(STIM1):c.1798G>T (p.Val600Leu) rs527880533
NM_001382567.1(STIM1):c.1805A>G (p.Lys602Arg) rs1554972161
NM_001382567.1(STIM1):c.1818C>A (p.Ser606Arg)
NM_001382567.1(STIM1):c.1818_1819delinsTA (p.Pro607Thr)
NM_001382567.1(STIM1):c.1820C>T (p.Pro607Leu) rs2094524774
NM_001382567.1(STIM1):c.1837G>A (p.Ala613Thr) rs2133264567
NM_001382567.1(STIM1):c.1838C>T (p.Ala613Val) rs1590703419
NM_001382567.1(STIM1):c.1846G>A (p.Ala616Thr)
NM_001382567.1(STIM1):c.1850T>C (p.Leu617Pro)
NM_001382567.1(STIM1):c.1855C>A (p.His619Asn)
NM_001382567.1(STIM1):c.1855C>T (p.His619Tyr)
NM_001382567.1(STIM1):c.1859G>C (p.Gly620Ala) rs2094525006
NM_001382567.1(STIM1):c.1870G>T (p.Ala624Ser)
NM_001382567.1(STIM1):c.1882A>G (p.Met628Val)
NM_001382567.1(STIM1):c.1883T>C (p.Met628Thr)
NM_001382567.1(STIM1):c.1885G>A (p.Glu629Lys) rs2094525182
NM_001382567.1(STIM1):c.1887G>C (p.Glu629Asp) rs199874116
NM_001382567.1(STIM1):c.1895C>T (p.Pro632Leu)
NM_001382567.1(STIM1):c.1900G>T (p.Ala634Ser)
NM_001382567.1(STIM1):c.1909G>C (p.Gly637Arg) rs771983048
NM_001382567.1(STIM1):c.1913G>C (p.Gly638Ala)
NM_001382567.1(STIM1):c.1931C>T (p.Ser644Phe)
NM_001382567.1(STIM1):c.1943A>T (p.His648Leu) rs2133265240
NM_001382567.1(STIM1):c.1947C>A (p.Ser649Arg)
NM_001382567.1(STIM1):c.1969A>G (p.Thr657Ala) rs2094525733
NM_001382567.1(STIM1):c.1970C>T (p.Thr657Ile)
NM_001382567.1(STIM1):c.1981G>C (p.Val661Leu) rs1590703566
NM_001382567.1(STIM1):c.1982T>C (p.Val661Ala)
NM_001382567.1(STIM1):c.1991G>A (p.Ser664Asn)
NM_001382567.1(STIM1):c.1999C>A (p.Leu667Met) rs2094526007
NM_001382567.1(STIM1):c.199G>A (p.Ala67Thr)
NM_001382567.1(STIM1):c.2012G>T (p.Arg671Leu) rs769001716
NM_001382567.1(STIM1):c.2020C>T (p.Arg674Cys) rs779108452
NM_001382567.1(STIM1):c.2024T>C (p.Ile675Thr) rs2133265767
NM_001382567.1(STIM1):c.2034G>A (p.Leu678=) rs1388089736
NM_001382567.1(STIM1):c.2035G>A (p.Ala679Thr) rs1447309539
NM_001382567.1(STIM1):c.2042A>G (p.Lys681Arg)
NM_001382567.1(STIM1):c.2047G>T (p.Ala683Ser) rs201992816
NM_001382567.1(STIM1):c.2054C>T (p.Ala685Val) rs1590703662
NM_001382567.1(STIM1):c.2058GGA[1] (p.Glu687del)
NM_001382567.1(STIM1):c.2063A>C (p.Asp688Ala)
NM_001382567.1(STIM1):c.2065A>G (p.Asn689Asp)
NM_001382567.1(STIM1):c.2068G>A (p.Gly690Ser)
NM_001382567.1(STIM1):c.2069G>A (p.Gly690Asp)
NM_001382567.1(STIM1):c.206G>A (p.Arg69His)
NM_001382567.1(STIM1):c.2074A>G (p.Ile692Val)
NM_001382567.1(STIM1):c.2074A>T (p.Ile692Phe)
NM_001382567.1(STIM1):c.2075T>C (p.Ile692Thr)
NM_001382567.1(STIM1):c.2092T>G (p.Ser698Ala)
NM_001382567.1(STIM1):c.2098C>T (p.Pro700Ser)
NM_001382567.1(STIM1):c.20T>C (p.Leu7Pro)
NM_001382567.1(STIM1):c.2105G>A (p.Arg702Gln) rs779204802
NM_001382567.1(STIM1):c.2108A>G (p.Lys703Arg)
NM_001382567.1(STIM1):c.2109G>T (p.Lys703Asn)
NM_001382567.1(STIM1):c.2123A>G (p.Lys708Arg) rs2133266402
NM_001382567.1(STIM1):c.2131AAG[1] (p.Lys712del) rs2094526893
NM_001382567.1(STIM1):c.2143AAG[1] (p.Lys716del)
NM_001382567.1(STIM1):c.2149T>C (p.Ter717Gln)
NM_001382567.1(STIM1):c.218A>G (p.Lys73Arg)
NM_001382567.1(STIM1):c.270+5G>T
NM_001382567.1(STIM1):c.270G>C (p.Glu90Asp)
NM_001382567.1(STIM1):c.271-14C>G rs2136018670
NM_001382567.1(STIM1):c.271-3C>T rs561797617
NM_001382567.1(STIM1):c.272T>A (p.Phe91Tyr)
NM_001382567.1(STIM1):c.295C>G (p.His99Asp) rs1440304974
NM_001382567.1(STIM1):c.296A>G (p.His99Arg)
NM_001382567.1(STIM1):c.301C>G (p.Pro101Ala) rs2136018813
NM_001382567.1(STIM1):c.304A>G (p.Thr102Ala) rs2093978275
NM_001382567.1(STIM1):c.313C>A (p.His105Asn)
NM_001382567.1(STIM1):c.313C>G (p.His105Asp)
NM_001382567.1(STIM1):c.314A>C (p.His105Pro)
NM_001382567.1(STIM1):c.317G>A (p.Ser106Asn)
NM_001382567.1(STIM1):c.349G>T (p.Val117Leu)
NM_001382567.1(STIM1):c.383A>T (p.Glu128Val) rs2136019150
NM_001382567.1(STIM1):c.388T>C (p.Tyr130His)
NM_001382567.1(STIM1):c.398C>T (p.Thr133Ile) rs1590678408
NM_001382567.1(STIM1):c.406G>A (p.Glu136Lys) rs1590678420
NM_001382567.1(STIM1):c.409G>A (p.Val137Met)
NM_001382567.1(STIM1):c.429A>G (p.Thr143=) rs2094282235
NM_001382567.1(STIM1):c.45CCT[1] (p.Leu17del)
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln) rs771484089
NM_001382567.1(STIM1):c.46C>T (p.Leu16Phe)
NM_001382567.1(STIM1):c.473A>C (p.Gln158Pro) rs899854132
NM_001382567.1(STIM1):c.482G>A (p.Gly161Asp) rs2133084204
NM_001382567.1(STIM1):c.485A>G (p.His162Arg)
NM_001382567.1(STIM1):c.490A>G (p.Met164Val) rs776121110
NM_001382567.1(STIM1):c.498G>A (p.Arg166=)
NM_001382567.1(STIM1):c.4G>A (p.Asp2Asn) rs2090364498
NM_001382567.1(STIM1):c.50T>G (p.Leu17Arg) rs2090367397
NM_001382567.1(STIM1):c.515C>T (p.Thr172Ile) rs200912784
NM_001382567.1(STIM1):c.518C>T (p.Thr173Ile)
NM_001382567.1(STIM1):c.530C>T (p.Thr177Ile)
NM_001382567.1(STIM1):c.532G>T (p.Val178Leu) rs1351131329
NM_001382567.1(STIM1):c.541A>G (p.Met181Val) rs2094314118
NM_001382567.1(STIM1):c.550C>T (p.Arg184Trp) rs368391164
NM_001382567.1(STIM1):c.57G>C (p.Gln19His) rs1554949765
NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser) rs2135170451
NM_001382567.1(STIM1):c.610C>T (p.Leu204Phe) rs1375399301
NM_001382567.1(STIM1):c.612C>T (p.Leu204=) rs2094314742
NM_001382567.1(STIM1):c.614T>C (p.Leu205Ser) rs2133161173
NM_001382567.1(STIM1):c.620G>A (p.Arg207His)
NM_001382567.1(STIM1):c.622C>T (p.His208Tyr) rs2133161238
NM_001382567.1(STIM1):c.623A>G (p.His208Arg) rs2094394104
NM_001382567.1(STIM1):c.630C>G (p.His210Gln)
NM_001382567.1(STIM1):c.642C>G (p.Phe214Leu)
NM_001382567.1(STIM1):c.64A>G (p.Ser22Gly)
NM_001382567.1(STIM1):c.658A>G (p.Ile220Val) rs2094394322
NM_001382567.1(STIM1):c.661G>A (p.Val221Ile)
NM_001382567.1(STIM1):c.673G>T (p.Gly225Cys)
NM_001382567.1(STIM1):c.67C>T (p.Leu23Phe)
NM_001382567.1(STIM1):c.684G>T (p.Trp228Cys)
NM_001382567.1(STIM1):c.68T>A (p.Leu23His)
NM_001382567.1(STIM1):c.692A>T (p.Tyr231Phe)
NM_001382567.1(STIM1):c.703C>G (p.Arg235Gly)
NM_001382567.1(STIM1):c.710C>T (p.Ser237Phe) rs751364519
NM_001382567.1(STIM1):c.718C>T (p.His240Tyr)
NM_001382567.1(STIM1):c.722T>C (p.Met241Thr) rs1057013806
NM_001382567.1(STIM1):c.725AGA[1] (p.Lys243del) rs1424195254
NM_001382567.1(STIM1):c.731TGA[1] (p.Met245del) rs2094394895
NM_001382567.1(STIM1):c.733A>C (p.Met245Leu) rs755714206
NM_001382567.1(STIM1):c.738G>C (p.Lys246Asn) rs536528954
NM_001382567.1(STIM1):c.746A>G (p.Glu249Gly)
NM_001382567.1(STIM1):c.747G>T (p.Glu249Asp)
NM_001382567.1(STIM1):c.752T>C (p.Leu251Ser) rs2094395092
NM_001382567.1(STIM1):c.764A>G (p.Glu255Gly)
NM_001382567.1(STIM1):c.776A>G (p.His259Arg) rs1359363776
NM_001382567.1(STIM1):c.791+7C>T rs2094395337
NM_001382567.1(STIM1):c.792-3C>A rs201348785
NM_001382567.1(STIM1):c.792-3C>G rs201348785
NM_001382567.1(STIM1):c.792-3C>T
NM_001382567.1(STIM1):c.792-3del rs764247879
NM_001382567.1(STIM1):c.792-5C>G
NM_001382567.1(STIM1):c.796C>T (p.His266Tyr) rs2133185569
NM_001382567.1(STIM1):c.79C>G (p.His27Asp)
NM_001382567.1(STIM1):c.7G>A (p.Val3Ile) rs1060499904
NM_001382567.1(STIM1):c.803C>T (p.Ala268Val) rs2094425773
NM_001382567.1(STIM1):c.81C>A (p.His27Gln) rs1393963653
NM_001382567.1(STIM1):c.859C>A (p.Arg287Ser) rs1034949340
NM_001382567.1(STIM1):c.859C>T (p.Arg287Cys) rs1034949340
NM_001382567.1(STIM1):c.860G>A (p.Arg287His) rs1565168009
NM_001382567.1(STIM1):c.863A>C (p.Asp288Ala) rs900508637
NM_001382567.1(STIM1):c.872A>C (p.Asn291Thr) rs138848040
NM_001382567.1(STIM1):c.902A>G (p.Lys301Arg)
NM_001382567.1(STIM1):c.919A>G (p.Thr307Ala)
NM_001382567.1(STIM1):c.92C>T (p.Ala31Val)
NM_001382567.1(STIM1):c.932G>A (p.Arg311Gln)
NM_001382567.1(STIM1):c.938G>A (p.Arg313His) rs776331076
NM_001382567.1(STIM1):c.952GAG[2] (p.Glu320del) rs2133186642
NM_001382567.1(STIM1):c.970G>A (p.Val324Ile)
NM_001382567.1(STIM1):c.974G>A (p.Arg325Gln)
NM_001382567.1(STIM1):c.974G>T (p.Arg325Leu) rs746960459
NM_001382567.1(STIM1):c.98G>A (p.Gly33Glu)
NM_001458.5(FLNC):c.1003A>C (p.Thr335Pro)
NM_001458.5(FLNC):c.1003A>G (p.Thr335Ala)
NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys) rs748723761
NM_001458.5(FLNC):c.100T>G (p.Trp34Gly)
NM_001458.5(FLNC):c.1012G>A (p.Val338Ile) rs2128934331
NM_001458.5(FLNC):c.1040T>C (p.Leu347Ser) rs1554397631
NM_001458.5(FLNC):c.1042C>T (p.His348Tyr) rs2128934341
NM_001458.5(FLNC):c.1043A>C (p.His348Pro)
NM_001458.5(FLNC):c.1047+3A>G
NM_001458.5(FLNC):c.1049T>C (p.Val350Ala)
NM_001458.5(FLNC):c.1064C>T (p.Ala355Val) rs1231559702
NM_001458.5(FLNC):c.1066G>A (p.Gly356Ser) rs1808183705
NM_001458.5(FLNC):c.1067G>A (p.Gly356Asp)
NM_001458.5(FLNC):c.1076T>C (p.Ile359Thr)
NM_001458.5(FLNC):c.1087C>A (p.Pro363Thr) rs2128934398
NM_001458.5(FLNC):c.1087C>T (p.Pro363Ser)
NM_001458.5(FLNC):c.109A>G (p.Ile37Val)
NM_001458.5(FLNC):c.1102G>C (p.Val368Leu) rs781718076
NM_001458.5(FLNC):c.1106G>C (p.Gly369Ala) rs754733061
NM_001458.5(FLNC):c.1106G>T (p.Gly369Val)
NM_001458.5(FLNC):c.110T>G (p.Ile37Ser)
NM_001458.5(FLNC):c.1120G>A (p.Asp374Asn)
NM_001458.5(FLNC):c.1129A>G (p.Lys377Glu) rs1035933787
NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn) rs1396483415
NM_001458.5(FLNC):c.1135T>G (p.Ser379Ala) rs746992457
NM_001458.5(FLNC):c.1141C>G (p.Arg381Gly) rs770692923
NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln) rs1204536261
NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser)
NM_001458.5(FLNC):c.1160C>G (p.Pro387Arg) rs765434369
NM_001458.5(FLNC):c.1162G>C (p.Val388Leu) rs1484540724
NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp) rs1808189981
NM_001458.5(FLNC):c.1187C>A (p.Thr396Asn) rs2128934429
NM_001458.5(FLNC):c.11A>G (p.Asn4Ser)
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu) rs777199447
NM_001458.5(FLNC):c.1210+4G>A rs2128934436
NM_001458.5(FLNC):c.1210+5G>A rs770923888
NM_001458.5(FLNC):c.1222G>A (p.Gly408Ser) rs2128934484
NM_001458.5(FLNC):c.1234G>C (p.Val412Leu)
NM_001458.5(FLNC):c.1242C>G (p.Ile414Met)
NM_001458.5(FLNC):c.1246G>A (p.Asp416Asn)
NM_001458.5(FLNC):c.1248C>A (p.Asp416Glu)
NM_001458.5(FLNC):c.1250C>A (p.Pro417Gln)
NM_001458.5(FLNC):c.1255G>A (p.Gly419Ser)
NM_001458.5(FLNC):c.1258C>G (p.Arg420Gly)
NM_001458.5(FLNC):c.125T>G (p.Phe42Cys) rs777706683
NM_001458.5(FLNC):c.1265A>G (p.Asp422Gly)
NM_001458.5(FLNC):c.127A>C (p.Thr43Pro) rs1807852947
NM_001458.5(FLNC):c.1282C>G (p.Leu428Val) rs1585154042
NM_001458.5(FLNC):c.1286A>C (p.Glu429Ala) rs1031308521
NM_001458.5(FLNC):c.1295G>T (p.Gly432Val) rs750350780
NM_001458.5(FLNC):c.1301G>A (p.Ser434Asn) rs1585154054
NM_001458.5(FLNC):c.1303A>G (p.Thr435Ala) rs1808206478
NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly) rs374847180
NM_001458.5(FLNC):c.130C>T (p.Arg44Cys) rs2128932137
NM_001458.5(FLNC):c.131G>C (p.Arg44Pro)
NM_001458.5(FLNC):c.131G>T (p.Arg44Leu) rs1807853136
NM_001458.5(FLNC):c.1325C>A (p.Pro442His) rs1554397822
NM_001458.5(FLNC):c.1331T>C (p.Met444Thr)
NM_001458.5(FLNC):c.1332G>A (p.Met444Ile) rs1343786191
NM_001458.5(FLNC):c.133T>A (p.Trp45Arg)
NM_001458.5(FLNC):c.1349T>C (p.Val450Ala)
NM_001458.5(FLNC):c.1351C>T (p.His451Tyr)
NM_001458.5(FLNC):c.1352A>C (p.His451Pro) rs1808209347
NM_001458.5(FLNC):c.1372C>A (p.Pro458Thr) rs369747694
NM_001458.5(FLNC):c.1373C>G (p.Pro458Arg) rs1808210779
NM_001458.5(FLNC):c.1382G>A (p.Arg461His) rs377587489
NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu) rs377587489
NM_001458.5(FLNC):c.1394C>T (p.Pro465Leu)
NM_001458.5(FLNC):c.139A>G (p.Asn47Asp)
NM_001458.5(FLNC):c.13A>G (p.Ser5Gly) rs2128932075
NM_001458.5(FLNC):c.1411G>A (p.Ala471Thr)
NM_001458.5(FLNC):c.1412-3T>C
NM_001458.5(FLNC):c.1415G>A (p.Cys472Tyr)
NM_001458.5(FLNC):c.1420C>T (p.Pro474Ser) rs1562993431
NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup) rs1807853629
NM_001458.5(FLNC):c.1433G>C (p.Arg478Pro)
NM_001458.5(FLNC):c.1445G>A (p.Arg482Gln) rs770337434
NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp) rs1562993476
NM_001458.5(FLNC):c.1454A>G (p.Gln485Arg) rs1012536919
NM_001458.5(FLNC):c.1462G>A (p.Gly488Ser)
NM_001458.5(FLNC):c.1469G>T (p.Arg490Leu) rs1046320257
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu) rs770264114
NM_001458.5(FLNC):c.1484C>G (p.Ala495Gly)
NM_001458.5(FLNC):c.1484C>T (p.Ala495Val)
NM_001458.5(FLNC):c.148C>G (p.Leu50Val)
NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser) rs2128934879
NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile) rs794727967
NM_001458.5(FLNC):c.1508G>T (p.Gly503Val) rs1483134760
NM_001458.5(FLNC):c.1510G>A (p.Ala504Thr) rs1562993551
NM_001458.5(FLNC):c.1514G>A (p.Gly505Asp)
NM_001458.5(FLNC):c.1517G>A (p.Ser506Asn) rs1554398094
NM_001458.5(FLNC):c.1525C>G (p.Leu509Val)
NM_001458.5(FLNC):c.1525C>T (p.Leu509Phe)
NM_001458.5(FLNC):c.1529A>T (p.Lys510Met)
NM_001458.5(FLNC):c.1535C>A (p.Thr512Lys) rs775538827
NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr) rs375881193
NM_001458.5(FLNC):c.1543G>A (p.Gly515Arg)
NM_001458.5(FLNC):c.1544G>A (p.Gly515Glu)
NM_001458.5(FLNC):c.1564C>G (p.Pro522Ala) rs1808287052
NM_001458.5(FLNC):c.1565C>T (p.Pro522Leu)
NM_001458.5(FLNC):c.157G>T (p.Val53Leu)
NM_001458.5(FLNC):c.1582G>A (p.Ala528Thr)
NM_001458.5(FLNC):c.1586G>T (p.Gly529Val) rs2128935018
NM_001458.5(FLNC):c.1598T>G (p.Phe533Cys)
NM_001458.5(FLNC):c.1599C>A (p.Phe533Leu) rs768072902
NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln) rs201905890
NM_001458.5(FLNC):c.1603T>G (p.Cys535Gly) rs1808289781
NM_001458.5(FLNC):c.1607A>G (p.Glu536Gly) rs2128935033
NM_001458.5(FLNC):c.1618G>T (p.Val540Leu) rs551472827
NM_001458.5(FLNC):c.161G>T (p.Gly54Val) rs1032152678
NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu) rs1221769888
NM_001458.5(FLNC):c.1640T>C (p.Val547Ala)
NM_001458.5(FLNC):c.1646T>C (p.Ile549Thr)
NM_001458.5(FLNC):c.1649C>A (p.Thr550Lys)
NM_001458.5(FLNC):c.1651T>C (p.Trp551Arg)
NM_001458.5(FLNC):c.1654G>T (p.Gly552Cys)
NM_001458.5(FLNC):c.1655G>T (p.Gly552Val)
NM_001458.5(FLNC):c.1672C>T (p.Arg558Cys) rs370326975
NM_001458.5(FLNC):c.1676+2dup rs2128935058
NM_001458.5(FLNC):c.1676+3G>A
NM_001458.5(FLNC):c.1677-3C>G
NM_001458.5(FLNC):c.1682T>C (p.Phe561Ser)
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala) rs774963796
NM_001458.5(FLNC):c.1693G>A (p.Val565Met)
NM_001458.5(FLNC):c.1693G>T (p.Val565Leu)
NM_001458.5(FLNC):c.1696A>T (p.Ser566Cys)
NM_001458.5(FLNC):c.16G>A (p.Gly6Ser) rs1284761356
NM_001458.5(FLNC):c.16G>C (p.Gly6Arg) rs1284761356
NM_001458.5(FLNC):c.1706C>T (p.Ala569Val) rs2128935115
NM_001458.5(FLNC):c.1709G>C (p.Gly570Ala)
NM_001458.5(FLNC):c.170T>C (p.Leu57Pro) rs1585147774
NM_001458.5(FLNC):c.1711G>A (p.Val571Met) rs1194021325
NM_001458.5(FLNC):c.1712T>C (p.Val571Ala) rs750817835
NM_001458.5(FLNC):c.1723C>A (p.Arg575=)
NM_001458.5(FLNC):c.1723C>T (p.Arg575Trp) rs761117952
NM_001458.5(FLNC):c.1724G>C (p.Arg575Pro) rs764751276
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr) rs1808303402
NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile) rs2128935128
NM_001458.5(FLNC):c.1756G>T (p.Val586Leu)
NM_001458.5(FLNC):c.1774T>C (p.Phe592Leu)
NM_001458.5(FLNC):c.1790T>C (p.Ile597Thr)
NM_001458.5(FLNC):c.179T>A (p.Leu60Gln) rs1807855891
NM_001458.5(FLNC):c.179T>G (p.Leu60Arg)
NM_001458.5(FLNC):c.1801G>A (p.Val601Met) rs762652248
NM_001458.5(FLNC):c.1810C>A (p.Leu604Met)
NM_001458.5(FLNC):c.1811T>C (p.Leu604Pro)
NM_001458.5(FLNC):c.1813G>A (p.Gly605Ser) rs1562994122
NM_001458.5(FLNC):c.1814-3C>G rs1162747854
NM_001458.5(FLNC):c.1814G>C (p.Gly605Ala)
NM_001458.5(FLNC):c.1816T>G (p.Phe606Val) rs1808316775
NM_001458.5(FLNC):c.1822A>T (p.Ile608Phe)
NM_001458.5(FLNC):c.1824C>G (p.Ile608Met) rs753007069
NM_001458.5(FLNC):c.1825G>C (p.Glu609Gln) rs758389160
NM_001458.5(FLNC):c.1831C>T (p.Pro611Ser)
NM_001458.5(FLNC):c.1847T>A (p.Ile616Asn)
NM_001458.5(FLNC):c.1848C>G (p.Ile616Met) rs770173704
NM_001458.5(FLNC):c.1851A>T (p.Glu617Asp) rs199715890
NM_001458.5(FLNC):c.1855GAC[1] (p.Asp620del)
NM_001458.5(FLNC):c.1857C>G (p.Asp619Glu) rs771469976
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn) rs567514134
NM_001458.5(FLNC):c.1858G>C (p.Asp620His) rs567514134
NM_001458.5(FLNC):c.1862A>T (p.Lys621Met)
NM_001458.5(FLNC):c.1871G>C (p.Gly624Ala)
NM_001458.5(FLNC):c.187G>T (p.Asp63Tyr)
NM_001458.5(FLNC):c.1882G>A (p.Val628Met)
NM_001458.5(FLNC):c.1893G>C (p.Trp631Cys) rs1808320936
NM_001458.5(FLNC):c.1895C>A (p.Pro632His) rs1482049894
NM_001458.5(FLNC):c.1903C>T (p.Pro635Ser)
NM_001458.5(FLNC):c.1915G>A (p.Ala639Thr) rs1175392094
NM_001458.5(FLNC):c.1915G>T (p.Ala639Ser)
NM_001458.5(FLNC):c.1927A>C (p.Ile643Leu) rs1808322583
NM_001458.5(FLNC):c.1927A>G (p.Ile643Val) rs1808322583
NM_001458.5(FLNC):c.1934A>C (p.Asp645Ala) rs1554398369
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del) rs765300084
NM_001458.5(FLNC):c.1945_1953dup (p.Ile649_Asp651dup) rs1554398377
NM_001458.5(FLNC):c.1949G>A (p.Arg650Gln)
NM_001458.5(FLNC):c.1958C>T (p.Pro653Leu) rs1808324139
NM_001458.5(FLNC):c.195C>A (p.Ser65Arg)
NM_001458.5(FLNC):c.1963A>G (p.Ile655Val) rs2128935277
NM_001458.5(FLNC):c.1975C>G (p.Leu659Val)
NM_001458.5(FLNC):c.197A>C (p.Asp66Ala)
NM_001458.5(FLNC):c.197A>G (p.Asp66Gly)
NM_001458.5(FLNC):c.1994G>A (p.Cys665Tyr)
NM_001458.5(FLNC):c.199G>A (p.Gly67Arg)
NM_001458.5(FLNC):c.2007+6G>A rs757293841
NM_001458.5(FLNC):c.2008-3C>T
NM_001458.5(FLNC):c.2008G>A (p.Val670Met)
NM_001458.5(FLNC):c.200G>T (p.Gly67Val) rs1807857687
NM_001458.5(FLNC):c.2033A>G (p.Glu678Gly) rs1232073461
NM_001458.5(FLNC):c.2035C>T (p.Pro679Ser) rs1808331792
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu) rs975517733
NM_001458.5(FLNC):c.2047A>G (p.Ile683Val)
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu) rs769221710
NM_001458.5(FLNC):c.2052G>A (p.Val684=) rs1554398437
NM_001458.5(FLNC):c.2053G>A (p.Asp685Asn)
NM_001458.5(FLNC):c.2059C>T (p.Pro687Ser)
NM_001458.5(FLNC):c.2062G>C (p.Ala688Pro) rs774194364
NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser) rs774194364
NM_001458.5(FLNC):c.2072C>T (p.Thr691Ile) rs2128935358
NM_001458.5(FLNC):c.2083C>T (p.Arg695Cys)
NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu) rs766592492
NM_001458.5(FLNC):c.2090C>T (p.Ala697Val)
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser) rs1461903090
NM_001458.5(FLNC):c.2093G>A (p.Gly698Asp) rs1562994518
NM_001458.5(FLNC):c.2094C>T (p.Gly698=) rs1585156683
NM_001458.5(FLNC):c.2099G>A (p.Gly700Glu)
NM_001458.5(FLNC):c.2107_2119delinsT (p.Lys703_Gln707delinsTer) rs1585156701
NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg) rs753914864
NM_001458.5(FLNC):c.211A>G (p.Ile71Val) rs1250893880
NM_001458.5(FLNC):c.2122-6C>G rs1808361488
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu) rs187481700
NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser)
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr) rs1554396387
NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu) rs778781499
NM_001458.5(FLNC):c.2131_2145del (p.Gly711_Asp715del)
NM_001458.5(FLNC):c.2142C>G (p.Ile714Met) rs199595235
NM_001458.5(FLNC):c.2146A>G (p.Ile716Val) rs1808363671
NM_001458.5(FLNC):c.2149A>G (p.Lys717Glu)
NM_001458.5(FLNC):c.2150A>T (p.Lys717Met)
NM_001458.5(FLNC):c.2155A>T (p.Ile719Phe) rs1808363999
NM_001458.5(FLNC):c.215C>T (p.Ala72Val) rs893814984
NM_001458.5(FLNC):c.2168A>T (p.Asp723Val) rs1808365040
NM_001458.5(FLNC):c.2171G>A (p.Gly724Asp) rs1554398553
NM_001458.5(FLNC):c.2171G>T (p.Gly724Val)
NM_001458.5(FLNC):c.2188_2205del (p.Tyr730_Pro735del) rs2128935556
NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys)
NM_001458.5(FLNC):c.2194C>T (p.Pro732Ser) rs1562994905
NM_001458.5(FLNC):c.2201A>G (p.Lys734Arg) rs1585157281
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn) rs769984017
NM_001458.5(FLNC):c.2206A>G (p.Ile736Val) rs2128935565
NM_001458.5(FLNC):c.2218A>G (p.Ile740Val)
NM_001458.5(FLNC):c.2219T>C (p.Ile740Thr) rs2128935573
NM_001458.5(FLNC):c.2224A>G (p.Ile742Val) rs769224072
NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro)
NM_001458.5(FLNC):c.2228C>T (p.Ser743Phe)
NM_001458.5(FLNC):c.2228_2230del (p.Ser743del) rs2128935577
NM_001458.5(FLNC):c.2245G>C (p.Val749Leu) rs763901270
NM_001458.5(FLNC):c.2246T>A (p.Val749Glu) rs932445396
NM_001458.5(FLNC):c.2248C>G (p.Pro750Ala) rs1808369718
NM_001458.5(FLNC):c.2249C>T (p.Pro750Leu)
NM_001458.5(FLNC):c.2254A>G (p.Ser752Gly)
NM_001458.5(FLNC):c.2255G>A (p.Ser752Asn)
NM_001458.5(FLNC):c.2275G>C (p.Gly759Arg)
NM_001458.5(FLNC):c.2286C>G (p.Ser762Arg) rs1160582987
NM_001458.5(FLNC):c.231_232insGTATGC (p.Leu77_Ser78insValCys) rs2128932197
NM_001458.5(FLNC):c.2321T>C (p.Val774Ala) rs1808383222
NM_001458.5(FLNC):c.232A>G (p.Ser78Gly) rs746082496
NM_001458.5(FLNC):c.2335C>T (p.Leu779Phe) rs2128935691
NM_001458.5(FLNC):c.2338A>G (p.Lys780Glu)
NM_001458.5(FLNC):c.2347G>A (p.Glu783Lys)
NM_001458.5(FLNC):c.234_235insTCGTATGCAGCTCGTATG (p.Ser78_Gln79insSerTyrAlaAlaArgMet) rs2128932203
NM_001458.5(FLNC):c.2351C>G (p.Pro784Arg) rs2128935692
NM_001458.5(FLNC):c.2359T>C (p.Phe787Leu)
NM_001458.5(FLNC):c.2360T>C (p.Phe787Ser) rs760513917
NM_001458.5(FLNC):c.2363C>G (p.Thr788Arg) rs1010774264
NM_001458.5(FLNC):c.2368G>A (p.Asp790Asn)
NM_001458.5(FLNC):c.2383G>A (p.Gly795Arg) rs1196887010
NM_001458.5(FLNC):c.2389+14G>T rs2128935710
NM_001458.5(FLNC):c.2389+18G>A
NM_001458.5(FLNC):c.2392G>T (p.Asp798Tyr) rs778594252
NM_001458.5(FLNC):c.2395G>A (p.Val799Met) rs1345929888
NM_001458.5(FLNC):c.2401A>T (p.Ile801Phe)
NM_001458.5(FLNC):c.2404G>C (p.Gly802Arg)
NM_001458.5(FLNC):c.2413T>C (p.Cys805Arg)
NM_001458.5(FLNC):c.2415C>G (p.Cys805Trp)
NM_001458.5(FLNC):c.2416G>C (p.Ala806Pro)
NM_001458.5(FLNC):c.2417C>A (p.Ala806Asp)
NM_001458.5(FLNC):c.241C>T (p.Arg81Cys) rs1374458008
NM_001458.5(FLNC):c.2426TGG[1] (p.Val810del) rs1585157919
NM_001458.5(FLNC):c.2428G>C (p.Val810Leu) rs763153223
NM_001458.5(FLNC):c.2432G>C (p.Gly811Ala)
NM_001458.5(FLNC):c.2434C>T (p.Pro812Ser) rs1808396338
NM_001458.5(FLNC):c.244A>C (p.Met82Leu) rs2128932209
NM_001458.5(FLNC):c.2459A>T (p.Asp820Val) rs886044638
NM_001458.5(FLNC):c.245T>A (p.Met82Lys) rs1807859917
NM_001458.5(FLNC):c.245T>G (p.Met82Arg) rs1807859917
NM_001458.5(FLNC):c.2460C>A (p.Asp820Glu)
NM_001458.5(FLNC):c.246G>A (p.Met82Ile) rs1554396403
NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr) rs1562995383
NM_001458.5(FLNC):c.2474A>G (p.Asp825Gly) rs559621589
NM_001458.5(FLNC):c.2476_2478del (p.Asn826del) rs1188205440
NM_001458.5(FLNC):c.2478C>A (p.Asn826Lys)
NM_001458.5(FLNC):c.2494A>C (p.Lys832Gln) rs2128935786
NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser) rs1422445527
NM_001458.5(FLNC):c.2507C>T (p.Pro836Leu) rs199652368
NM_001458.5(FLNC):c.250C>G (p.Arg84Gly)
NM_001458.5(FLNC):c.2512G>A (p.Ala838Thr) rs1808400610
NM_001458.5(FLNC):c.2513C>G (p.Ala838Gly)
NM_001458.5(FLNC):c.251G>C (p.Arg84Pro)
NM_001458.5(FLNC):c.2521T>C (p.Tyr841His) rs2128935808
NM_001458.5(FLNC):c.2527A>T (p.Ile843Phe) rs973425855
NM_001458.5(FLNC):c.2528T>C (p.Ile843Thr)
NM_001458.5(FLNC):c.2531T>C (p.Met844Thr)
NM_001458.5(FLNC):c.2539T>C (p.Phe847Leu)
NM_001458.5(FLNC):c.2542G>A (p.Ala848Thr)
NM_001458.5(FLNC):c.2546A>G (p.Asn849Ser) rs755425307
NM_001458.5(FLNC):c.2550+3A>T
NM_001458.5(FLNC):c.2550+3dup
NM_001458.5(FLNC):c.2550+4C>G
NM_001458.5(FLNC):c.2550G>A (p.Gln850=) rs1585158097
NM_001458.5(FLNC):c.2551-3C>T rs1293024920
NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp)
NM_001458.5(FLNC):c.2555T>C (p.Ile852Thr) rs111482519
NM_001458.5(FLNC):c.2565C>G (p.Ser855Arg)
NM_001458.5(FLNC):c.2582T>G (p.Val861Gly) rs749269317
NM_001458.5(FLNC):c.2587C>T (p.Pro863Ser) rs754750752
NM_001458.5(FLNC):c.2604C>A (p.Ser868Arg)
NM_001458.5(FLNC):c.2604C>G (p.Ser868Arg) rs2128935920
NM_001458.5(FLNC):c.2608G>A (p.Val870Ile)
NM_001458.5(FLNC):c.2621G>A (p.Gly874Asp) rs2128935929
NM_001458.5(FLNC):c.2624C>G (p.Pro875Arg) rs1418979185
NM_001458.5(FLNC):c.2628G>T (p.Gly876=) rs2128935936
NM_001458.5(FLNC):c.2630_2631insTCT (p.Leu877_Asn878insLeu)
NM_001458.5(FLNC):c.2633A>G (p.Asn878Ser)
NM_001458.5(FLNC):c.2641+5G>C rs2128935942
NM_001458.5(FLNC):c.2642-2dup
NM_001458.5(FLNC):c.2644G>A (p.Val882Met)
NM_001458.5(FLNC):c.266G>A (p.Arg89His) rs1554396410
NM_001458.5(FLNC):c.2699C>T (p.Ala900Val)
NM_001458.5(FLNC):c.269C>G (p.Pro90Arg) rs1807861341
NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln) rs2128935990
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn) rs1554398845
NM_001458.5(FLNC):c.2707G>A (p.Asp903Asn) rs781591239
NM_001458.5(FLNC):c.2707G>C (p.Asp903His)
NM_001458.5(FLNC):c.2710G>A (p.Val904Met) rs1340231541
NM_001458.5(FLNC):c.2710G>T (p.Val904Leu)
NM_001458.5(FLNC):c.2711T>G (p.Val904Gly) rs2128935993
NM_001458.5(FLNC):c.2714A>G (p.Gln905Arg)
NM_001458.5(FLNC):c.2718T>G (p.Phe906Leu)
NM_001458.5(FLNC):c.272A>C (p.Asn91Thr) rs886042565
NM_001458.5(FLNC):c.272A>G (p.Asn91Ser)
NM_001458.5(FLNC):c.2731A>C (p.Lys911Gln)
NM_001458.5(FLNC):c.2734G>A (p.Gly912Ser) rs1808427228
NM_001458.5(FLNC):c.2735G>A (p.Gly912Asp)
NM_001458.5(FLNC):c.2738A>G (p.Glu913Gly)
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys) rs1807861563
NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu) rs143720860
NM_001458.5(FLNC):c.2771A>C (p.His924Pro)
NM_001458.5(FLNC):c.2776T>G (p.Tyr926Asp) rs1808429467
NM_001458.5(FLNC):c.2779T>C (p.Ser927Pro)
NM_001458.5(FLNC):c.277C>T (p.Arg93Cys) rs762326127
NM_001458.5(FLNC):c.2780C>A (p.Ser927Tyr) rs1585158690
NM_001458.5(FLNC):c.2780_2782del (p.Ser927del) rs1808429673
NM_001458.5(FLNC):c.2782T>A (p.Tyr928Asn) rs1808429909
NM_001458.5(FLNC):c.2782T>C (p.Tyr928His) rs1808429909
NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn) rs1808430365
NM_001458.5(FLNC):c.2797A>C (p.Thr933Pro) rs2128936026
NM_001458.5(FLNC):c.2798C>G (p.Thr933Ser)
NM_001458.5(FLNC):c.2807A>T (p.Gln936Leu) rs2128936027
NM_001458.5(FLNC):c.2811+3G>A
NM_001458.5(FLNC):c.2812-4A>G
NM_001458.5(FLNC):c.2812-8C>G
NM_001458.5(FLNC):c.2813G>C (p.Gly938Ala)
NM_001458.5(FLNC):c.2815A>G (p.Asn939Asp)
NM_001458.5(FLNC):c.2819T>A (p.Met940Lys) rs2128936077
NM_001458.5(FLNC):c.2825T>C (p.Val942Ala) rs1808440244
NM_001458.5(FLNC):c.2830G>A (p.Val944Met) rs2128936081
NM_001458.5(FLNC):c.2833A>G (p.Thr945Ala)
NM_001458.5(FLNC):c.2840G>A (p.Gly947Asp)
NM_001458.5(FLNC):c.2845G>T (p.Asp949Tyr) rs761905908
NM_001458.5(FLNC):c.2847C>A (p.Asp949Glu) rs1808441944
NM_001458.5(FLNC):c.2847C>G (p.Asp949Glu) rs1808441944
NM_001458.5(FLNC):c.2851G>T (p.Val951Phe) rs760566825
NM_001458.5(FLNC):c.2855C>T (p.Pro952Leu)
NM_001458.5(FLNC):c.2857A>G (p.Lys953Glu)
NM_001458.5(FLNC):c.2862C>G (p.Ser954Arg) rs766581831
NM_001458.5(FLNC):c.2876A>G (p.Asn959Ser)
NM_001458.5(FLNC):c.2879T>C (p.Val960Ala) rs568452175
NM_001458.5(FLNC):c.2884C>T (p.Pro962Ser)
NM_001458.5(FLNC):c.2885C>A (p.Pro962His)
NM_001458.5(FLNC):c.2890C>A (p.Leu964Met) rs1562996103
NM_001458.5(FLNC):c.2897T>C (p.Leu966Pro) rs2128936106
NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn)
NM_001458.5(FLNC):c.2907C>G (p.Ile969Met)
NM_001458.5(FLNC):c.290T>C (p.Leu97Pro) rs1585147935
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg) rs1585147935
NM_001458.5(FLNC):c.2911G>C (p.Val971Leu) rs548199973
NM_001458.5(FLNC):c.2915A>G (p.Gln972Arg)
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser) rs2128936113
NM_001458.5(FLNC):c.2929+5G>A
NM_001458.5(FLNC):c.2929+5G>C
NM_001458.5(FLNC):c.2929+6T>G rs2128936121
NM_001458.5(FLNC):c.292G>A (p.Glu98Lys) rs1195481399
NM_001458.5(FLNC):c.2930-4G>T rs747623690
NM_001458.5(FLNC):c.2930-5C>G rs371599113
NM_001458.5(FLNC):c.2938G>C (p.Val980Leu)
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr) rs1179474749
NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln)
NM_001458.5(FLNC):c.2975G>A (p.Gly992Glu) rs1419637272
NM_001458.5(FLNC):c.2978C>T (p.Ala993Val) rs2128936160
NM_001458.5(FLNC):c.297C>G (p.Asn99Lys)
NM_001458.5(FLNC):c.2981G>T (p.Gly994Val)
NM_001458.5(FLNC):c.2984G>A (p.Gly995Asp) rs1808452430
NM_001458.5(FLNC):c.3005G>T (p.Arg1002Leu)
NM_001458.5(FLNC):c.3007A>C (p.Met1003Leu) rs1808453806
NM_001458.5(FLNC):c.301T>C (p.Ser101Pro)
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn) rs2128932233
NM_001458.5(FLNC):c.3022C>A (p.Arg1008Ser)
NM_001458.5(FLNC):c.3023G>T (p.Arg1008Leu)
NM_001458.5(FLNC):c.3025C>G (p.Arg1009Gly)
NM_001458.5(FLNC):c.3026G>A (p.Arg1009Gln) rs375445167
NM_001458.5(FLNC):c.3026G>T (p.Arg1009Leu)
NM_001458.5(FLNC):c.302C>T (p.Ser101Phe) rs1554396416
NM_001458.5(FLNC):c.3032T>C (p.Ile1011Thr) rs1808454823
NM_001458.5(FLNC):c.3052G>A (p.Gly1018Ser) rs2128936181
NM_001458.5(FLNC):c.3056G>A (p.Gly1019Asp)
NM_001458.5(FLNC):c.3058G>A (p.Gly1020Arg) rs2128936185
NM_001458.5(FLNC):c.3065A>C (p.Glu1022Ala) rs1808455747
NM_001458.5(FLNC):c.3067G>A (p.Ala1023Thr) rs376107866
NM_001458.5(FLNC):c.3076G>A (p.Val1026Met) rs1808456380
NM_001458.5(FLNC):c.3088C>A (p.Pro1030Thr) rs1554399034
NM_001458.5(FLNC):c.3088C>T (p.Pro1030Ser)
NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg) rs2128936198
NM_001458.5(FLNC):c.3092C>G (p.Pro1031Arg) rs372467579
NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp)
NM_001458.5(FLNC):c.3107A>C (p.Tyr1036Ser)
NM_001458.5(FLNC):c.3109A>G (p.Lys1037Glu)
NM_001458.5(FLNC):c.3115G>A (p.Asp1039Asn) rs1808458838
NM_001458.5(FLNC):c.3118A>T (p.Ile1040Phe)
NM_001458.5(FLNC):c.3122C>T (p.Thr1041Ile) rs557380928
NM_001458.5(FLNC):c.3136C>G (p.Pro1046Ala) rs749099313
NM_001458.5(FLNC):c.3142C>T (p.Pro1048Ser)
NM_001458.5(FLNC):c.3143C>T (p.Pro1048Leu) rs2128936216
NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe) rs1585159401
NM_001458.5(FLNC):c.3151C>T (p.Pro1051Ser)
NM_001458.5(FLNC):c.3160G>A (p.Val1054Met)
NM_001458.5(FLNC):c.3166G>A (p.Gly1056Ser) rs1287987501
NM_001458.5(FLNC):c.3167G>A (p.Gly1056Asp) rs763807492
NM_001458.5(FLNC):c.3175C>G (p.Pro1059Ala) rs767119310
NM_001458.5(FLNC):c.3178C>G (p.Pro1060Ala) rs2128936236
NM_001458.5(FLNC):c.3187T>C (p.Ser1063Pro)
NM_001458.5(FLNC):c.31G>T (p.Gly11Cys) rs370512642
NM_001458.5(FLNC):c.3217A>C (p.Lys1073Gln) rs2128936345
NM_001458.5(FLNC):c.3234C>T (p.Gly1078=) rs1808479678
NM_001458.5(FLNC):c.3236C>A (p.Thr1079Asn) rs2128936356
NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser) rs950648783
NM_001458.5(FLNC):c.3247T>A (p.Phe1083Ile) rs1354409050
NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu) rs1354409050
NM_001458.5(FLNC):c.3256G>A (p.Asp1086Asn) rs369398096
NM_001458.5(FLNC):c.3257_3258delinsTA (p.Asp1086Val) rs2128936367
NM_001458.5(FLNC):c.325C>A (p.Arg109Ser) rs2128932240
NM_001458.5(FLNC):c.3264G>A (p.Lys1088=) rs1808481662
NM_001458.5(FLNC):c.3265G>A (p.Gly1089Arg) rs1554399171
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys) rs1405189650
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp) rs1374868566
NM_001458.5(FLNC):c.328G>A (p.Glu110Lys)
NM_001458.5(FLNC):c.3308G>A (p.Cys1103Tyr) rs1238364459
NM_001458.5(FLNC):c.3322G>A (p.Glu1108Lys) rs781352216
NM_001458.5(FLNC):c.332A>G (p.His111Arg)
NM_001458.5(FLNC):c.3343G>T (p.Gly1115Cys)
NM_001458.5(FLNC):c.3344G>A (p.Gly1115Asp) rs2128936401
NM_001458.5(FLNC):c.3349T>C (p.Cys1117Arg)
NM_001458.5(FLNC):c.3349T>G (p.Cys1117Gly)
NM_001458.5(FLNC):c.3350G>T (p.Cys1117Phe)
NM_001458.5(FLNC):c.3358A>G (p.Ser1120Gly) rs749637616
NM_001458.5(FLNC):c.3371C>A (p.Thr1124Lys) rs375013141
NM_001458.5(FLNC):c.3371C>T (p.Thr1124Met) rs375013141
NM_001458.5(FLNC):c.3377C>G (p.Pro1126Arg) rs1808488088
NM_001458.5(FLNC):c.338A>G (p.Lys113Arg)
NM_001458.5(FLNC):c.3391A>G (p.Ile1131Val) rs773110786
NM_001458.5(FLNC):c.3395A>G (p.Asn1132Ser) rs2128936421
NM_001458.5(FLNC):c.3405T>G (p.Phe1135Leu)
NM_001458.5(FLNC):c.3415C>T (p.His1139Tyr) rs1562996847
NM_001458.5(FLNC):c.3418A>G (p.Ile1140Val) rs2128936425
NM_001458.5(FLNC):c.341T>C (p.Leu114Pro) rs1807864684
NM_001458.5(FLNC):c.3430C>T (p.Pro1144Ser) rs1585160095
NM_001458.5(FLNC):c.3431C>T (p.Pro1144Leu) rs200723434
NM_001458.5(FLNC):c.3431_3432delinsGT (p.Pro1144Arg)
NM_001458.5(FLNC):c.3443C>G (p.Thr1148Ser)
NM_001458.5(FLNC):c.3443C>T (p.Thr1148Ile) rs2128936430
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp) rs779184516
NM_001458.5(FLNC):c.3451C>T (p.Pro1151Ser)
NM_001458.5(FLNC):c.3454G>T (p.Val1152Leu) rs1396046243
NM_001458.5(FLNC):c.3463C>G (p.Pro1155Ala) rs745361779
NM_001458.5(FLNC):c.3465G>C (p.Pro1155=)
NM_001458.5(FLNC):c.3465G>T (p.Pro1155=)
NM_001458.5(FLNC):c.3475C>G (p.Arg1159Gly) rs760500171
NM_001458.5(FLNC):c.3482_3483delinsTC (p.Ser1161Ile)
NM_001458.5(FLNC):c.3488C>A (p.Pro1163Gln) rs377489161
NM_001458.5(FLNC):c.3502G>T (p.Gly1168Cys) rs199814952
NM_001458.5(FLNC):c.3507G>C (p.Lys1169Asn)
NM_001458.5(FLNC):c.3511G>T (p.Gly1171Cys) rs769490872
NM_001458.5(FLNC):c.3512G>A (p.Gly1171Asp) rs1298622480
NM_001458.5(FLNC):c.3512G>T (p.Gly1171Val)
NM_001458.5(FLNC):c.3516G>T (p.Glu1172Asp)
NM_001458.5(FLNC):c.3518C>T (p.Ala1173Val) rs1229255608
NM_001458.5(FLNC):c.352G>A (p.Asp118Asn)
NM_001458.5(FLNC):c.3538T>C (p.Cys1180Arg)
NM_001458.5(FLNC):c.3539G>C (p.Cys1180Ser)
NM_001458.5(FLNC):c.3539G>T (p.Cys1180Phe) rs1319931619
NM_001458.5(FLNC):c.3541T>C (p.Ser1181Pro) rs2128936467
NM_001458.5(FLNC):c.3568A>G (p.Ile1190Val) rs1259241248
NM_001458.5(FLNC):c.356G>T (p.Ser119Ile)
NM_001458.5(FLNC):c.3572A>G (p.Glu1191Gly) rs772055432
NM_001458.5(FLNC):c.3587C>T (p.Ala1196Val)
NM_001458.5(FLNC):c.3599C>T (p.Ala1200Val)
NM_001458.5(FLNC):c.3601G>A (p.Glu1201Lys) rs751963297
NM_001458.5(FLNC):c.3601G>C (p.Glu1201Gln) rs751963297
NM_001458.5(FLNC):c.3618C>A (p.Asn1206Lys) rs1039623010
NM_001458.5(FLNC):c.3621C>G (p.Asn1207Lys) rs117864464
NM_001458.5(FLNC):c.3629G>A (p.Gly1210Asp)
NM_001458.5(FLNC):c.3643A>C (p.Thr1215Pro) rs2128936501
NM_001458.5(FLNC):c.3656C>T (p.Ala1219Val) rs775551445
NM_001458.5(FLNC):c.365T>C (p.Ile122Thr) rs2128933606
NM_001458.5(FLNC):c.3671A>G (p.Tyr1224Cys)
NM_001458.5(FLNC):c.3676A>G (p.Ile1226Val) rs1808506817
NM_001458.5(FLNC):c.3689A>C (p.Tyr1230Ser)
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys) rs863225116
NM_001458.5(FLNC):c.3692G>A (p.Gly1231Asp) rs1808507457
NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup) rs1808507351
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg) rs754533053
NM_001458.5(FLNC):c.3700C>T (p.Pro1234Ser)
NM_001458.5(FLNC):c.3703G>A (p.Val1235Met) rs1208885010
NM_001458.5(FLNC):c.3703G>T (p.Val1235Leu)
NM_001458.5(FLNC):c.370G>T (p.Asp124Tyr) rs1808053038
NM_001458.5(FLNC):c.3713T>G (p.Phe1238Cys) rs777798089
NM_001458.5(FLNC):c.371A>C (p.Asp124Ala)
NM_001458.5(FLNC):c.3725T>C (p.Val1242Ala)
NM_001458.5(FLNC):c.3730G>T (p.Val1244Leu)
NM_001458.5(FLNC):c.3761A>C (p.Lys1254Thr)
NM_001458.5(FLNC):c.3781G>C (p.Glu1261Gln) rs747033771
NM_001458.5(FLNC):c.3790+5G>C rs199917473
NM_001458.5(FLNC):c.3790G>T (p.Gly1264Cys) rs201335143
NM_001458.5(FLNC):c.3799C>G (p.Arg1267Gly) rs371483562
NM_001458.5(FLNC):c.37G>A (p.Gly13Ser) rs760318519
NM_001458.5(FLNC):c.37G>C (p.Gly13Arg) rs760318519
NM_001458.5(FLNC):c.3803A>G (p.Glu1268Gly) rs1585161164
NM_001458.5(FLNC):c.3805G>T (p.Val1269Leu) rs1808547668
NM_001458.5(FLNC):c.3815A>G (p.Glu1272Gly)
NM_001458.5(FLNC):c.3829G>A (p.Ala1277Thr) rs1808548777
NM_001458.5(FLNC):c.3829G>T (p.Ala1277Ser) rs1808548777
NM_001458.5(FLNC):c.3835T>C (p.Ser1279Pro) rs1562997744
NM_001458.5(FLNC):c.3836C>T (p.Ser1279Phe)
NM_001458.5(FLNC):c.3842C>T (p.Thr1281Ile) rs776862347
NM_001458.5(FLNC):c.385C>G (p.Leu129Val)
NM_001458.5(FLNC):c.3862G>A (p.Val1288Met) rs750415476
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu) rs750415476
NM_001458.5(FLNC):c.3881A>G (p.Asn1294Ser) rs944103680
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile) rs944103680
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys) rs1808552408
NM_001458.5(FLNC):c.3883C>G (p.Pro1295Ala)
NM_001458.5(FLNC):c.3887C>G (p.Ser1296Trp) rs747587140
NM_001458.5(FLNC):c.389T>A (p.Ile130Asn)
NM_001458.5(FLNC):c.3905C>T (p.Thr1302Ile) rs746249435
NM_001458.5(FLNC):c.3905_3919dup (p.Thr1302_Asp1306dup) rs756167665
NM_001458.5(FLNC):c.3908A>T (p.Tyr1303Phe) rs1808553804
NM_001458.5(FLNC):c.3919A>G (p.Asn1307Asp) rs1808554442
NM_001458.5(FLNC):c.3920A>G (p.Asn1307Ser)
NM_001458.5(FLNC):c.3938G>C (p.Arg1313Pro) rs199804244
NM_001458.5(FLNC):c.3947A>G (p.Tyr1316Cys) rs2128936781
NM_001458.5(FLNC):c.3950C>G (p.Thr1317Ser)
NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser) rs777939926
NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val)
NM_001458.5(FLNC):c.3964+5G>A rs2128936793
NM_001458.5(FLNC):c.3964G>C (p.Gly1322Arg)
NM_001458.5(FLNC):c.3967G>A (p.Val1323Met) rs771676134
NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu)
NM_001458.5(FLNC):c.3968T>G (p.Val1323Gly) rs2128936843
NM_001458.5(FLNC):c.3982G>A (p.Val1328Ile) rs1585161584
NM_001458.5(FLNC):c.398T>C (p.Leu133Pro) rs1808053502
NM_001458.5(FLNC):c.3996G>T (p.Glu1332Asp)
NM_001458.5(FLNC):c.4009A>C (p.Lys1337Gln) rs1554399580
NM_001458.5(FLNC):c.4016C>T (p.Pro1339Leu) rs1808566825
NM_001458.5(FLNC):c.4018T>G (p.Phe1340Val) rs775383465
NM_001458.5(FLNC):c.402C>G (p.Ile134Met)
NM_001458.5(FLNC):c.4052C>T (p.Thr1351Ile) rs1585161671
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu) rs746731567
NM_001458.5(FLNC):c.4055_4056delinsAT (p.Arg1352His)
NM_001458.5(FLNC):c.405G>T (p.Trp135Cys) rs2128933620
NM_001458.5(FLNC):c.4069G>T (p.Gly1357Trp)
NM_001458.5(FLNC):c.406A>G (p.Thr136Ala)
NM_001458.5(FLNC):c.4087G>A (p.Gly1363Ser)
NM_001458.5(FLNC):c.4092G>T (p.Leu1364Phe) rs768635501
NM_001458.5(FLNC):c.4102G>C (p.Ala1368Pro)
NM_001458.5(FLNC):c.4102G>T (p.Ala1368Ser)
NM_001458.5(FLNC):c.4103C>T (p.Ala1368Val) rs896305338
NM_001458.5(FLNC):c.4105A>G (p.Asn1369Asp)
NM_001458.5(FLNC):c.4106A>G (p.Asn1369Ser) rs1554399615
NM_001458.5(FLNC):c.4108C>G (p.Arg1370Gly) rs1342121466
NM_001458.5(FLNC):c.4111T>C (p.Phe1371Leu)
NM_001458.5(FLNC):c.4120G>A (p.Glu1374Lys)
NM_001458.5(FLNC):c.4127+5C>A
NM_001458.5(FLNC):c.4127+5C>T rs2128936919
NM_001458.5(FLNC):c.4128-11T>G
NM_001458.5(FLNC):c.4129G>A (p.Gly1377Arg) rs768725407
NM_001458.5(FLNC):c.4129G>C (p.Gly1377Arg)
NM_001458.5(FLNC):c.4130G>C (p.Gly1377Ala)
NM_001458.5(FLNC):c.4132G>A (p.Ala1378Thr)
NM_001458.5(FLNC):c.4132G>T (p.Ala1378Ser)
NM_001458.5(FLNC):c.4141G>T (p.Gly1381Trp) rs766513255
NM_001458.5(FLNC):c.4142G>A (p.Gly1381Glu) rs2128937018
NM_001458.5(FLNC):c.4145G>A (p.Gly1382Asp) rs1808586180
NM_001458.5(FLNC):c.4159A>C (p.Ile1387Leu)
NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val) rs1032003580
NM_001458.5(FLNC):c.4162G>A (p.Glu1388Lys)
NM_001458.5(FLNC):c.4171_4227del (p.Ser1391_Tyr1409del)
NM_001458.5(FLNC):c.4181A>C (p.Lys1394Thr)
NM_001458.5(FLNC):c.4184T>A (p.Met1395Lys) rs1372801269
NM_001458.5(FLNC):c.4185G>A (p.Met1395Ile) rs2128937035
NM_001458.5(FLNC):c.4197CAA[1] (p.Asn1400del) rs1167620763
NM_001458.5(FLNC):c.4202A>C (p.Lys1401Thr) rs1808588600
NM_001458.5(FLNC):c.4202A>G (p.Lys1401Arg) rs1808588600
NM_001458.5(FLNC):c.421T>C (p.Tyr141His)
NM_001458.5(FLNC):c.4224G>T (p.Glu1408Asp)
NM_001458.5(FLNC):c.4255G>A (p.Val1419Ile) rs1432229476
NM_001458.5(FLNC):c.4256T>C (p.Val1419Ala) rs2128937054
NM_001458.5(FLNC):c.4257C>A (p.Val1419=)
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)
NM_001458.5(FLNC):c.4277G>C (p.Arg1426Pro) rs764452839
NM_001458.5(FLNC):c.4279C>T (p.Pro1427Ser)
NM_001458.5(FLNC):c.4280C>T (p.Pro1427Leu) rs1192906461
NM_001458.5(FLNC):c.4287A>C (p.Pro1429=) rs1808591761
NM_001458.5(FLNC):c.4288G>A (p.Gly1430Arg)
NM_001458.5(FLNC):c.4289-3C>A
NM_001458.5(FLNC):c.4292G>T (p.Ser1431Ile)
NM_001458.5(FLNC):c.4293C>A (p.Ser1431Arg)
NM_001458.5(FLNC):c.4298T>A (p.Phe1433Tyr) rs2128937234
NM_001458.5(FLNC):c.4299C>A (p.Phe1433Leu)
NM_001458.5(FLNC):c.4301G>C (p.Arg1434Pro)
NM_001458.5(FLNC):c.4309G>T (p.Val1437Leu) rs1445187487
NM_001458.5(FLNC):c.4315G>A (p.Asp1439Asn) rs1562998835
NM_001458.5(FLNC):c.4318G>A (p.Val1440Met)
NM_001458.5(FLNC):c.431C>T (p.Ser144Phe) rs1225645939
NM_001458.5(FLNC):c.4321G>A (p.Val1441Met)
NM_001458.5(FLNC):c.4324G>A (p.Asp1442Asn)
NM_001458.5(FLNC):c.4326C>A (p.Asp1442Glu) rs1458536220
NM_001458.5(FLNC):c.4342T>C (p.Cys1448Arg) rs976487545
NM_001458.5(FLNC):c.4352C>G (p.Pro1451Arg)
NM_001458.5(FLNC):c.4378C>G (p.Arg1460Gly)
NM_001458.5(FLNC):c.4387C>G (p.Gln1463Glu) rs1808623920
NM_001458.5(FLNC):c.4399G>A (p.Val1467Met)
NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val)
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp) rs1174959724
NM_001458.5(FLNC):c.4423G>T (p.Ala1475Ser) rs982026083
NM_001458.5(FLNC):c.4426C>A (p.Pro1476Thr)
NM_001458.5(FLNC):c.4435G>C (p.Val1479Leu)
NM_001458.5(FLNC):c.4445T>C (p.Leu1482Pro)
NM_001458.5(FLNC):c.446A>T (p.Glu149Val) rs1808055544
NM_001458.5(FLNC):c.4475A>C (p.Glu1492Ala)
NM_001458.5(FLNC):c.4481G>A (p.Arg1494Gln) rs1241325618
NM_001458.5(FLNC):c.4484A>G (p.Asp1495Gly)
NM_001458.5(FLNC):c.4487A>G (p.Asn1496Ser)
NM_001458.5(FLNC):c.4492G>T (p.Asp1498Tyr)
NM_001458.5(FLNC):c.4493A>G (p.Asp1498Gly)
NM_001458.5(FLNC):c.4496G>A (p.Gly1499Asp)
NM_001458.5(FLNC):c.4497C>T (p.Gly1499=) rs1808633213
NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile)
NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala) rs771974318
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser) rs1808634430
NM_001458.5(FLNC):c.4519C>A (p.Pro1507Thr)
NM_001458.5(FLNC):c.4519C>G (p.Pro1507Ala)
NM_001458.5(FLNC):c.451G>A (p.Glu151Lys) rs1354261792
NM_001458.5(FLNC):c.4531G>A (p.Gly1511Arg) rs1445118718
NM_001458.5(FLNC):c.4537T>C (p.Tyr1513His)
NM_001458.5(FLNC):c.4540A>G (p.Thr1514Ala)
NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala)
NM_001458.5(FLNC):c.4550T>G (p.Val1517Gly)
NM_001458.5(FLNC):c.4562A>C (p.Asp1521Ala)
NM_001458.5(FLNC):c.4564C>A (p.Gln1522Lys)
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His) rs559667295
NM_001458.5(FLNC):c.4570G>A (p.Val1524Met) rs1358403336
NM_001458.5(FLNC):c.4576C>G (p.Arg1526Gly) rs746275035
NM_001458.5(FLNC):c.4580+4A>G
NM_001458.5(FLNC):c.4580+5G>A
NM_001458.5(FLNC):c.4581C>A (p.Ser1527Arg) rs2128937518
NM_001458.5(FLNC):c.4593C>G (p.Ile1531Met) rs371988433
NM_001458.5(FLNC):c.4598T>A (p.Val1533Asp)
NM_001458.5(FLNC):c.4604C>A (p.Pro1535Gln)
NM_001458.5(FLNC):c.4607C>T (p.Ala1536Val) rs1808665032
NM_001458.5(FLNC):c.460G>A (p.Glu154Lys)
NM_001458.5(FLNC):c.4616C>T (p.Ala1539Val) rs770746660
NM_001458.5(FLNC):c.4621A>G (p.Lys1541Glu)
NM_001458.5(FLNC):c.4631C>A (p.Ala1544Asp)
NM_001458.5(FLNC):c.4634G>T (p.Ser1545Ile) rs2128937535
NM_001458.5(FLNC):c.4636G>T (p.Gly1546Cys) rs774263134
NM_001458.5(FLNC):c.4639C>T (p.Pro1547Ser) rs2128937538
NM_001458.5(FLNC):c.4645C>T (p.Leu1549Phe) rs2128937539
NM_001458.5(FLNC):c.4649A>G (p.Asn1550Ser)
NM_001458.5(FLNC):c.4655C>T (p.Ser1552Phe)
NM_001458.5(FLNC):c.4675C>A (p.Pro1559Thr)
NM_001458.5(FLNC):c.4678G>A (p.Val1560Met) rs1351915127
NM_001458.5(FLNC):c.4687A>C (p.Thr1563Pro) rs1490741362
NM_001458.5(FLNC):c.4697C>G (p.Ala1566Gly) rs1808670044
NM_001458.5(FLNC):c.4698_4699delinsTT (p.Arg1567Trp) rs2128937563
NM_001458.5(FLNC):c.469C>G (p.Arg157Gly) rs759739899
NM_001458.5(FLNC):c.46G>T (p.Asp16Tyr) rs1807849615
NM_001458.5(FLNC):c.4700G>T (p.Arg1567Leu) rs2291569
NM_001458.5(FLNC):c.4708G>T (p.Gly1570Cys) rs1562999563
NM_001458.5(FLNC):c.472A>C (p.Lys158Gln)
NM_001458.5(FLNC):c.4732A>G (p.Ile1578Val)
NM_001458.5(FLNC):c.4737+5G>A rs1808673722
NM_001458.5(FLNC):c.4740C>A (p.Asp1580Glu)
NM_001458.5(FLNC):c.4742C>A (p.Pro1581His) rs1365087680
NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser) rs2128937618
NM_001458.5(FLNC):c.4748G>C (p.Gly1583Ala)
NM_001458.5(FLNC):c.4768A>G (p.Ile1590Val)
NM_001458.5(FLNC):c.4769T>G (p.Ile1590Ser) rs1808679455
NM_001458.5(FLNC):c.4775A>G (p.Asp1592Gly) rs1808679952
NM_001458.5(FLNC):c.4775A>T (p.Asp1592Val)
NM_001458.5(FLNC):c.4783G>A (p.Asp1595Asn) rs780133859
NM_001458.5(FLNC):c.4796C>T (p.Thr1599Ile) rs2128937641
NM_001458.5(FLNC):c.4808T>C (p.Leu1603Pro)
NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu) rs778021239
NM_001458.5(FLNC):c.4817T>A (p.Met1606Lys) rs1808683017
NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly) rs374756527
NM_001458.5(FLNC):c.4826G>A (p.Arg1609Gln) rs1168628508
NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile) rs1025308371
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys) rs1808685152
NM_001458.5(FLNC):c.4868A>G (p.Tyr1623Cys) rs1585164018
NM_001458.5(FLNC):c.4873C>T (p.Pro1625Ser) rs2128937664
NM_001458.5(FLNC):c.4874C>T (p.Pro1625Leu) rs1585164029
NM_001458.5(FLNC):c.4880G>T (p.Arg1627Leu) rs751592993
NM_001458.5(FLNC):c.4887T>A (p.His1629Gln) rs1585164043
NM_001458.5(FLNC):c.4888G>T (p.Ala1630Ser) rs1479430297
NM_001458.5(FLNC):c.4897A>G (p.Thr1633Ala)
NM_001458.5(FLNC):c.4914G>T (p.Lys1638Asn)
NM_001458.5(FLNC):c.491G>A (p.Arg164Gln)
NM_001458.5(FLNC):c.4925C>T (p.Thr1642Ile) rs756074974
NM_001458.5(FLNC):c.4926A>G (p.Thr1642=) rs1808689032
NM_001458.5(FLNC):c.4927+3G>A rs2128937684
NM_001458.5(FLNC):c.4927+5G>A rs1808689249
NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys) rs1808699932
NM_001458.5(FLNC):c.4934T>C (p.Ile1645Thr)
NM_001458.5(FLNC):c.4937G>A (p.Gly1646Glu)
NM_001458.5(FLNC):c.4939G>A (p.Gly1647Ser) rs748563858
NM_001458.5(FLNC):c.4940G>T (p.Gly1647Val)
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly) rs1563000044
NM_001458.5(FLNC):c.4970G>T (p.Arg1657Leu)
NM_001458.5(FLNC):c.4981G>A (p.Gly1661Arg) rs2128937796
NM_001458.5(FLNC):c.4988A>G (p.Glu1663Gly)
NM_001458.5(FLNC):c.49G>A (p.Glu17Lys)
NM_001458.5(FLNC):c.4A>G (p.Met2Val)
NM_001458.5(FLNC):c.5000C>G (p.Thr1667Arg)
NM_001458.5(FLNC):c.5011A>G (p.Lys1671Glu) rs1563000088
NM_001458.5(FLNC):c.5013G>T (p.Lys1671Asn)
NM_001458.5(FLNC):c.5021_5023del (p.Gly1674del)
NM_001458.5(FLNC):c.5026G>A (p.Gly1676Arg) rs1585164542
NM_001458.5(FLNC):c.5027G>A (p.Gly1676Glu)
NM_001458.5(FLNC):c.5029A>C (p.Lys1677Gln) rs1554400214
NM_001458.5(FLNC):c.5036C>A (p.Thr1679Lys) rs1364205864
NM_001458.5(FLNC):c.5039G>C (p.Cys1680Ser) rs552930634
NM_001458.5(FLNC):c.5041A>G (p.Thr1681Ala)
NM_001458.5(FLNC):c.5044G>C (p.Val1682Leu)
NM_001458.5(FLNC):c.5056G>T (p.Asp1686Tyr)
NM_001458.5(FLNC):c.5059G>A (p.Gly1687Arg) rs1808713041
NM_001458.5(FLNC):c.5064_5084dup (p.Leu1690_Glu1696dup) rs1808713133
NM_001458.5(FLNC):c.5083G>A (p.Val1695Ile)
NM_001458.5(FLNC):c.5084T>C (p.Val1695Ala)
NM_001458.5(FLNC):c.5088G>C (p.Glu1696Asp) rs1563000172
NM_001458.5(FLNC):c.5110A>G (p.Ile1704Val) rs2128937827
NM_001458.5(FLNC):c.5114A>T (p.Tyr1705Phe)
NM_001458.5(FLNC):c.5117A>G (p.Tyr1706Cys)
NM_001458.5(FLNC):c.5123C>T (p.Ala1708Val) rs1011817473
NM_001458.5(FLNC):c.5135G>A (p.Gly1712Asp)
NM_001458.5(FLNC):c.5135G>C (p.Gly1712Ala) rs2128937832
NM_001458.5(FLNC):c.5149A>T (p.Thr1717Ser)
NM_001458.5(FLNC):c.5160C>A (p.Phe1720Leu)
NM_001458.5(FLNC):c.5161G>A (p.Gly1721Arg) rs759786433
NM_001458.5(FLNC):c.5162G>A (p.Gly1721Glu) rs1181189567
NM_001458.5(FLNC):c.5163G>A (p.Gly1721=)
NM_001458.5(FLNC):c.5164G>A (p.Gly1722Ser) rs765591354
NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp)
NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr) rs2128937841
NM_001458.5(FLNC):c.5179A>G (p.Asn1727Asp) rs2128937845
NM_001458.5(FLNC):c.5180A>G (p.Asn1727Ser) rs1808718121
NM_001458.5(FLNC):c.5182A>G (p.Ser1728Gly) rs1554400248
NM_001458.5(FLNC):c.5183G>A (p.Ser1728Asn)
NM_001458.5(FLNC):c.5194G>C (p.Val1732Leu)
NM_001458.5(FLNC):c.5199+6T>G
NM_001458.5(FLNC):c.519_525delinsT (p.Pro174_Gln175del) rs1808059318
NM_001458.5(FLNC):c.5200-18C>G
NM_001458.5(FLNC):c.5200G>A (p.Ala1734Thr) rs1359496906
NM_001458.5(FLNC):c.5201C>T (p.Ala1734Val) rs751149867
NM_001458.5(FLNC):c.5205T>G (p.Cys1735Trp)
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu) rs1291689149
NM_001458.5(FLNC):c.520C>T (p.Pro174Ser) rs1350019040
NM_001458.5(FLNC):c.5216C>A (p.Pro1739Gln) rs745650222
NM_001458.5(FLNC):c.5231C>T (p.Pro1744Leu)
NM_001458.5(FLNC):c.5233T>A (p.Ser1745Thr)
NM_001458.5(FLNC):c.5238A>C (p.Glu1746Asp) rs1563000552
NM_001458.5(FLNC):c.5239G>A (p.Val1747Met) rs764373507
NM_001458.5(FLNC):c.5246A>C (p.Gln1749Pro)
NM_001458.5(FLNC):c.5248C>A (p.Leu1750Met)
NM_001458.5(FLNC):c.525G>C (p.Gln175His)
NM_001458.5(FLNC):c.5261A>G (p.Tyr1754Cys) rs1330454582
NM_001458.5(FLNC):c.5264C>T (p.Ala1755Val) rs1286156977
NM_001458.5(FLNC):c.5265TCC[1] (p.Pro1757del) rs1808740121
NM_001458.5(FLNC):c.5272C>G (p.Arg1758Gly) rs369187211
NM_001458.5(FLNC):c.5273G>T (p.Arg1758Leu)
NM_001458.5(FLNC):c.5279G>A (p.Gly1760Asp) rs1808741985
NM_001458.5(FLNC):c.5285G>C (p.Arg1762Pro)
NM_001458.5(FLNC):c.5299-17C>G
NM_001458.5(FLNC):c.5306A>G (p.Glu1769Gly)
NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del) rs2128938073
NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp) rs1808756761
NM_001458.5(FLNC):c.5311C>A (p.Pro1771Thr)
NM_001458.5(FLNC):c.5317G>A (p.Val1773Met)
NM_001458.5(FLNC):c.5321C>G (p.Pro1774Arg) rs1273796039
NM_001458.5(FLNC):c.5323G>A (p.Val1775Met)
NM_001458.5(FLNC):c.5323G>T (p.Val1775Leu)
NM_001458.5(FLNC):c.532A>T (p.Ile178Phe)
NM_001458.5(FLNC):c.5339C>A (p.Ser1780Tyr)
NM_001458.5(FLNC):c.5343G>A (p.Met1781Ile) rs1554400464
NM_001458.5(FLNC):c.5354T>C (p.Phe1785Ser) rs1808758860
NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys) rs1311819055
NM_001458.5(FLNC):c.535A>T (p.Thr179Ser)
NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe) rs1808759348
NM_001458.5(FLNC):c.5365A>G (p.Ile1789Val)
NM_001458.5(FLNC):c.5372T>A (p.Phe1791Tyr) rs2128938095
NM_001458.5(FLNC):c.5398G>A (p.Gly1800Arg) rs2128938108
NM_001458.5(FLNC):c.5412G>C (p.Met1804Ile)
NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr) rs1808775264
NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu) rs2128938211
NM_001458.5(FLNC):c.5430_5431inv (p.Arg1811Trp)
NM_001458.5(FLNC):c.5438A>G (p.Asn1813Ser)
NM_001458.5(FLNC):c.5444C>T (p.Thr1815Ile) rs1361160043
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del) rs1312829675
NM_001458.5(FLNC):c.5452A>C (p.Lys1818Gln)
NM_001458.5(FLNC):c.5455G>A (p.Asp1819Asn) rs1808778177
NM_001458.5(FLNC):c.5455G>T (p.Asp1819Tyr) rs1808778177
NM_001458.5(FLNC):c.5456A>T (p.Asp1819Val) rs2128938237
NM_001458.5(FLNC):c.5459G>A (p.Gly1820Asp)
NM_001458.5(FLNC):c.5464A>G (p.Ile1822Val)
NM_001458.5(FLNC):c.5464A>T (p.Ile1822Phe)
NM_001458.5(FLNC):c.5470G>A (p.Val1824Met) rs1808779198
NM_001458.5(FLNC):c.5483C>T (p.Pro1828Leu) rs2128938246
NM_001458.5(FLNC):c.5486C>T (p.Thr1829Ile) rs1585166066
NM_001458.5(FLNC):c.5489A>G (p.Glu1830Gly)
NM_001458.5(FLNC):c.5491A>G (p.Lys1831Glu) rs374126692
NM_001458.5(FLNC):c.5495G>T (p.Gly1832Val) rs1808780127
NM_001458.5(FLNC):c.5504A>C (p.Gln1835Pro)
NM_001458.5(FLNC):c.5505G>C (p.Gln1835His)
NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu) rs1808780678
NM_001458.5(FLNC):c.5518T>A (p.Tyr1840Asn)
NM_001458.5(FLNC):c.5528A>G (p.Asn1843Ser)
NM_001458.5(FLNC):c.5530C>T (p.His1844Tyr)
NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu) rs1408298919
NM_001458.5(FLNC):c.5545C>A (p.Pro1849Thr) rs1808798354
NM_001458.5(FLNC):c.5546C>A (p.Pro1849His)
NM_001458.5(FLNC):c.5558A>G (p.Tyr1853Cys)
NM_001458.5(FLNC):c.5560G>A (p.Val1854Met)
NM_001458.5(FLNC):c.5560G>C (p.Val1854Leu)
NM_001458.5(FLNC):c.5564A>G (p.Asp1855Gly)
NM_001458.5(FLNC):c.5564A>T (p.Asp1855Val)
NM_001458.5(FLNC):c.5576G>A (p.Ser1859Asn)
NM_001458.5(FLNC):c.5581C>T (p.His1861Tyr)
NM_001458.5(FLNC):c.5588G>A (p.Ser1863Asn) rs1224825896
NM_001458.5(FLNC):c.5618T>A (p.Met1873Lys) rs1808801511
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser) rs1808801761
NM_001458.5(FLNC):c.5651C>T (p.Thr1884Ile) rs1064796546
NM_001458.5(FLNC):c.5666A>G (p.Glu1889Gly)
NM_001458.5(FLNC):c.5668+3G>A rs1563001474
NM_001458.5(FLNC):c.5668+6G>A rs773119692
NM_001458.5(FLNC):c.5668G>T (p.Gly1890Trp) rs1808803000
NM_001458.5(FLNC):c.5671G>T (p.Gly1891Cys) rs2128938427
NM_001458.5(FLNC):c.5672G>A (p.Gly1891Asp) rs1808808728
NM_001458.5(FLNC):c.5672G>T (p.Gly1891Val)
NM_001458.5(FLNC):c.5677_5682del (p.Ser1893_Leu1894del) rs1425063581
NM_001458.5(FLNC):c.5681T>G (p.Leu1894Arg) rs2128938434
NM_001458.5(FLNC):c.5687T>G (p.Val1896Gly)
NM_001458.5(FLNC):c.5690A>G (p.Glu1897Gly)
NM_001458.5(FLNC):c.5693G>A (p.Gly1898Asp) rs1808809802
NM_001458.5(FLNC):c.5696C>T (p.Pro1899Leu)
NM_001458.5(FLNC):c.5698T>C (p.Ser1900Pro)
NM_001458.5(FLNC):c.5700_5701insTGT (p.Ser1900_Lys1901insCys)
NM_001458.5(FLNC):c.5705C>A (p.Ala1902Glu)
NM_001458.5(FLNC):c.5713A>G (p.Thr1905Ala) rs1808810815
NM_001458.5(FLNC):c.5714C>T (p.Thr1905Ile)
NM_001458.5(FLNC):c.5716T>C (p.Cys1906Arg) rs1585166667
NM_001458.5(FLNC):c.5723A>C (p.Asp1908Ala) rs2128938447
NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu) rs2128938449
NM_001458.5(FLNC):c.5724CAA[1] (p.Asn1909del) rs780830196
NM_001458.5(FLNC):c.5727C>A (p.Asn1909Lys)
NM_001458.5(FLNC):c.5750C>G (p.Ser1917Cys)
NM_001458.5(FLNC):c.5753A>G (p.Tyr1918Cys) rs1808812647
NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg) rs1585166739
NM_001458.5(FLNC):c.5776T>G (p.Tyr1926Asp) rs1808814546
NM_001458.5(FLNC):c.5779A>G (p.Ser1927Gly) rs369518785
NM_001458.5(FLNC):c.5785A>G (p.Ile1929Val)
NM_001458.5(FLNC):c.5797G>A (p.Asp1933Asn) rs762297336
NM_001458.5(FLNC):c.5797G>T (p.Asp1933Tyr)
NM_001458.5(FLNC):c.5803A>G (p.Lys1935Glu) rs1808817011
NM_001458.5(FLNC):c.5807A>C (p.His1936Pro) rs1454768847
NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn) rs1585166795
NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu) rs764747370
NM_001458.5(FLNC):c.5819G>T (p.Ser1940Ile) rs2128938494
NM_001458.5(FLNC):c.5822C>T (p.Pro1941Leu) rs1808818042
NM_001458.5(FLNC):c.5826C>G (p.Phe1942Leu) rs567779611
NM_001458.5(FLNC):c.5836A>G (p.Ile1946Val) rs2128938499
NM_001458.5(FLNC):c.5837T>C (p.Ile1946Thr) rs1808818903
NM_001458.5(FLNC):c.583G>A (p.Val195Met) rs770955703
NM_001458.5(FLNC):c.5842+3G>A rs2128938504
NM_001458.5(FLNC):c.5842+5G>C rs1254947768
NM_001458.5(FLNC):c.5849A>G (p.Asp1950Gly)
NM_001458.5(FLNC):c.5854A>G (p.Met1952Val)
NM_001458.5(FLNC):c.587A>T (p.Asp196Val) rs2128933694
NM_001458.5(FLNC):c.5882C>G (p.Thr1961Ser)
NM_001458.5(FLNC):c.5882C>T (p.Thr1961Ile) rs1808867682
NM_001458.5(FLNC):c.5888C>A (p.Thr1963Lys) rs772580545
NM_001458.5(FLNC):c.5893G>A (p.Val1965Met) rs771255247
NM_001458.5(FLNC):c.5894T>G (p.Val1965Gly) rs1585167670
NM_001458.5(FLNC):c.5906T>C (p.Ile1969Thr)
NM_001458.5(FLNC):c.5909C>T (p.Thr1970Ile) rs1563002254
NM_001458.5(FLNC):c.5911G>A (p.Glu1971Lys)
NM_001458.5(FLNC):c.5919T>A (p.Asp1973Glu) rs767053963
NM_001458.5(FLNC):c.5941A>G (p.Ile1981Val) rs1808870602
NM_001458.5(FLNC):c.595G>A (p.Ala199Thr) rs1410315376
NM_001458.5(FLNC):c.5978T>G (p.Leu1993Arg) rs1808872550
NM_001458.5(FLNC):c.5990C>T (p.Pro1997Leu)
NM_001458.5(FLNC):c.5993A>C (p.Asn1998Thr)
NM_001458.5(FLNC):c.5994C>A (p.Asn1998Lys)
NM_001458.5(FLNC):c.5T>C (p.Met2Thr)
NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr) rs1554400940
NM_001458.5(FLNC):c.6004+3G>A
NM_001458.5(FLNC):c.6005-14C>G rs1012108263
NM_001458.5(FLNC):c.6008T>A (p.Ile2003Asn)
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser) rs1808062939
NM_001458.5(FLNC):c.601G>C (p.Gly201Arg)
NM_001458.5(FLNC):c.602-3C>T rs774453069
NM_001458.5(FLNC):c.6020C>T (p.Pro2007Leu) rs2128938868
NM_001458.5(FLNC):c.6023A>G (p.Lys2008Arg)
NM_001458.5(FLNC):c.6039C>A (p.His2013Gln)
NM_001458.5(FLNC):c.6040G>C (p.Val2014Leu) rs772477251
NM_001458.5(FLNC):c.6049G>T (p.Val2017Leu)
NM_001458.5(FLNC):c.6050T>G (p.Val2017Gly) rs2128938884
NM_001458.5(FLNC):c.6058A>T (p.Ser2020Cys) rs537114122
NM_001458.5(FLNC):c.6062G>A (p.Gly2021Asp) rs1439304519
NM_001458.5(FLNC):c.6063C>T (p.Gly2021=)
NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile) rs767695121
NM_001458.5(FLNC):c.6095T>C (p.Leu2032Pro) rs1554400980
NM_001458.5(FLNC):c.6104C>T (p.Pro2035Leu) rs1808884606
NM_001458.5(FLNC):c.6106T>G (p.Ser2036Ala)
NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu) rs2128938907
NM_001458.5(FLNC):c.6114C>G (p.Ile2038Met) rs559639511
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr) rs745842738
NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser) rs745842738
NM_001458.5(FLNC):c.6122C>A (p.Ala2041Asp) rs1585168065
NM_001458.5(FLNC):c.6129G>T (p.Lys2043Asn)
NM_001458.5(FLNC):c.6130G>T (p.Val2044Leu)
NM_001458.5(FLNC):c.6133C>A (p.Arg2045=) rs762748670
NM_001458.5(FLNC):c.6133C>T (p.Arg2045Trp)
NM_001458.5(FLNC):c.6134G>C (p.Arg2045Pro)
NM_001458.5(FLNC):c.6136G>A (p.Val2046Ile)
NM_001458.5(FLNC):c.6136G>T (p.Val2046Phe)
NM_001458.5(FLNC):c.6148G>A (p.Gly2050Arg) rs1585168103
NM_001458.5(FLNC):c.6152T>G (p.Leu2051Arg) rs2128938929
NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg) rs1808887627
NM_001458.5(FLNC):c.6166A>G (p.Thr2056Ala) rs1808887741
NM_001458.5(FLNC):c.6170T>C (p.Phe2057Ser) rs1554400996
NM_001458.5(FLNC):c.6173A>G (p.Gln2058Arg)
NM_001458.5(FLNC):c.6178G>A (p.Ala2060Thr)
NM_001458.5(FLNC):c.6189C>A (p.Ile2063=)
NM_001458.5(FLNC):c.6199C>T (p.Arg2067Cys) rs754160175
NM_001458.5(FLNC):c.6205G>A (p.Ala2069Thr) rs368562957
NM_001458.5(FLNC):c.6208+3A>G rs1585168169
NM_001458.5(FLNC):c.6208+4C>T rs1554401011
NM_001458.5(FLNC):c.6208G>A (p.Gly2070Ser)
NM_001458.5(FLNC):c.6209G>A (p.Gly2070Asp)
NM_001458.5(FLNC):c.6212A>G (p.Tyr2071Cys) rs2128939068
NM_001458.5(FLNC):c.6214G>A (p.Gly2072Arg) rs2128939071
NM_001458.5(FLNC):c.6217G>T (p.Gly2073Cys) rs1366093926
NM_001458.5(FLNC):c.6218G>A (p.Gly2073Asp)
NM_001458.5(FLNC):c.6218G>C (p.Gly2073Ala) rs922864783
NM_001458.5(FLNC):c.622G>C (p.Ala208Pro)
NM_001458.5(FLNC):c.6230G>A (p.Ser2077Asn)
NM_001458.5(FLNC):c.6238G>C (p.Gly2080Arg) rs1808912488
NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp) rs2128939083
NM_001458.5(FLNC):c.6244A>C (p.Ser2082Arg) rs2128939089
NM_001458.5(FLNC):c.6246C>T (p.Ser2082=) rs1554401089
NM_001458.5(FLNC):c.6248A>C (p.Lys2083Thr) rs2128939092
NM_001458.5(FLNC):c.6250G>T (p.Val2084Leu)
NM_001458.5(FLNC):c.6251T>A (p.Val2084Glu) rs2128939097
NM_001458.5(FLNC):c.6256A>G (p.Ile2086Val)
NM_001458.5(FLNC):c.6257T>C (p.Ile2086Thr) rs1808913302
NM_001458.5(FLNC):c.6260A>T (p.Asn2087Ile)
NM_001458.5(FLNC):c.6263G>A (p.Cys2088Tyr)
NM_001458.5(FLNC):c.6275A>G (p.Glu2092Gly) rs1808914162
NM_001458.5(FLNC):c.6277G>A (p.Asp2093Asn)
NM_001458.5(FLNC):c.6278A>C (p.Asp2093Ala) rs749292393
NM_001458.5(FLNC):c.6283A>T (p.Thr2095Ser) rs373022507
NM_001458.5(FLNC):c.6292G>A (p.Val2098Ile) rs2128939110
NM_001458.5(FLNC):c.6292G>C (p.Val2098Leu) rs2128939110
NM_001458.5(FLNC):c.6296C>A (p.Thr2099Asn) rs771090404
NM_001458.5(FLNC):c.6307A>G (p.Thr2103Ala)
NM_001458.5(FLNC):c.6308C>T (p.Thr2103Ile)
NM_001458.5(FLNC):c.6310G>A (p.Glu2104Lys) rs753069149
NM_001458.5(FLNC):c.6310G>C (p.Glu2104Gln) rs753069149
NM_001458.5(FLNC):c.6316G>A (p.Gly2106Ser)
NM_001458.5(FLNC):c.6340T>C (p.Phe2114Leu)
NM_001458.5(FLNC):c.6348C>G (p.Asp2116Glu)
NM_001458.5(FLNC):c.6354C>A (p.His2118Gln)
NM_001458.5(FLNC):c.6358C>T (p.Pro2120Ser)
NM_001458.5(FLNC):c.6359C>G (p.Pro2120Arg) rs1808918849
NM_001458.5(FLNC):c.635A>T (p.Asn212Ile) rs756723697
NM_001458.5(FLNC):c.6360T>C (p.Pro2120=)
NM_001458.5(FLNC):c.6361+5G>A rs1808919247
NM_001458.5(FLNC):c.6362-3C>T
NM_001458.5(FLNC):c.6362-5T>G rs2128939165
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser) rs371455516
NM_001458.5(FLNC):c.6381_6386dup (p.Val2128_Thr2129dup) rs1808924597
NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys) rs1186464414
NM_001458.5(FLNC):c.6398G>T (p.Arg2133Leu) rs1808925531
NM_001458.5(FLNC):c.6416C>G (p.Thr2139Ser)
NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp) rs1808926604
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln) rs769106207
NM_001458.5(FLNC):c.6442G>A (p.Ala2148Thr)
NM_001458.5(FLNC):c.6445A>G (p.Thr2149Ala)
NM_001458.5(FLNC):c.6450C>A (p.Ile2150=) rs776206819
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser) rs1563003159
NM_001458.5(FLNC):c.6451G>T (p.Gly2151Cys) rs1563003159
NM_001458.5(FLNC):c.6460T>A (p.Cys2154Ser) rs1554401153
NM_001458.5(FLNC):c.6472C>T (p.Leu2158Phe)
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe) rs879255640
NM_001458.5(FLNC):c.6479T>C (p.Ile2160Thr)
NM_001458.5(FLNC):c.6490T>C (p.Trp2164Arg) rs1808936908
NM_001458.5(FLNC):c.6492G>C (p.Trp2164Cys)
NM_001458.5(FLNC):c.6497A>C (p.Gln2166Pro)
NM_001458.5(FLNC):c.6497A>T (p.Gln2166Leu)
NM_001458.5(FLNC):c.6499A>G (p.Met2167Val) rs2128939248
NM_001458.5(FLNC):c.6500T>C (p.Met2167Thr)
NM_001458.5(FLNC):c.6517C>A (p.Arg2173Ser)
NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly)
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)
NM_001458.5(FLNC):c.6521T>C (p.Leu2174Pro)
NM_001458.5(FLNC):c.6526C>T (p.Arg2176Cys) rs376885778
NM_001458.5(FLNC):c.6530C>T (p.Thr2177Ile)
NM_001458.5(FLNC):c.6531C>T (p.Thr2177=)
NM_001458.5(FLNC):c.6533T>C (p.Phe2178Ser) rs1554401204
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His) rs1554401209
NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro) rs1554401209
NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)
NM_001458.5(FLNC):c.6544A>G (p.Ser2182Gly)
NM_001458.5(FLNC):c.6559CGCACGGAG[3] (p.2187RTE[3]) rs1808941149
NM_001458.5(FLNC):c.6560G>A (p.Arg2187His)
NM_001458.5(FLNC):c.6565G>A (p.Glu2189Lys)
NM_001458.5(FLNC):c.6568C>A (p.Arg2190Ser) rs1474675847
NM_001458.5(FLNC):c.656G>A (p.Arg219Gln)
NM_001458.5(FLNC):c.6574G>A (p.Glu2192Lys)
NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp) rs1808943188
NM_001458.5(FLNC):c.658G>C (p.Glu220Gln) rs2128934071
NM_001458.5(FLNC):c.65C>G (p.Pro22Arg)
NM_001458.5(FLNC):c.65C>T (p.Pro22Leu)
NM_001458.5(FLNC):c.6602C>T (p.Thr2201Ile) rs1585169205
NM_001458.5(FLNC):c.6607C>G (p.Arg2203Gly) rs758838323
NM_001458.5(FLNC):c.6616C>G (p.Arg2206Gly)
NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp) rs867032077
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln) rs781671804
NM_001458.5(FLNC):c.6617G>C (p.Arg2206Pro) rs781671804
NM_001458.5(FLNC):c.661G>A (p.Ala221Thr) rs1585152566
NM_001458.5(FLNC):c.6620T>C (p.Val2207Ala)
NM_001458.5(FLNC):c.6621_6638del (p.Glu2208_Val2213del) rs2128939305
NM_001458.5(FLNC):c.6632C>T (p.Thr2211Ile) rs1808946811
NM_001458.5(FLNC):c.6646G>A (p.Asp2216Asn) rs1808947656
NM_001458.5(FLNC):c.664A>T (p.Met222Leu) rs2128934074
NM_001458.5(FLNC):c.6650C>T (p.Pro2217Leu)
NM_001458.5(FLNC):c.6656C>A (p.Pro2219His) rs1808948567
NM_001458.5(FLNC):c.6661G>A (p.Val2221Met) rs1198252355
NM_001458.5(FLNC):c.6662T>C (p.Val2221Ala) rs2128939339
NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser) rs1554401281
NM_001458.5(FLNC):c.6677T>A (p.Leu2226Gln)
NM_001458.5(FLNC):c.6682C>T (p.Arg2228Trp) rs1196014760
NM_001458.5(FLNC):c.6685G>A (p.Glu2229Lys)
NM_001458.5(FLNC):c.6688C>T (p.Arg2230Cys) rs374186437
NM_001458.5(FLNC):c.6707G>C (p.Ser2236Thr) rs1808951957
NM_001458.5(FLNC):c.6712A>G (p.Thr2238Ala)
NM_001458.5(FLNC):c.6713C>A (p.Thr2238Asn)
NM_001458.5(FLNC):c.6713C>T (p.Thr2238Ile) rs1043618669
NM_001458.5(FLNC):c.6715C>G (p.Arg2239Gly)
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln) rs1350832784
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu) rs1350832784
NM_001458.5(FLNC):c.6727+5G>A
NM_001458.5(FLNC):c.6728-3C>T
NM_001458.5(FLNC):c.6730G>A (p.Glu2244Lys) rs1340208212
NM_001458.5(FLNC):c.6737G>A (p.Ser2246Asn)
NM_001458.5(FLNC):c.6737G>C (p.Ser2246Thr)
NM_001458.5(FLNC):c.673G>T (p.Ala225Ser) rs1808127026
NM_001458.5(FLNC):c.674C>T (p.Ala225Val)
NM_001458.5(FLNC):c.6775G>A (p.Gly2259Ser)
NM_001458.5(FLNC):c.6777C>T (p.Gly2259=) rs1057161787
NM_001458.5(FLNC):c.678C>A (p.Asp226Glu)
NM_001458.5(FLNC):c.679G>A (p.Asp227Asn)
NM_001458.5(FLNC):c.6823A>G (p.Ser2275Gly)
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met) rs1207179287
NM_001458.5(FLNC):c.6830G>A (p.Arg2277His) rs1186556555
NM_001458.5(FLNC):c.6843G>A (p.Gln2281=) rs2128939497
NM_001458.5(FLNC):c.6845A>G (p.Glu2282Gly) rs1808970524
NM_001458.5(FLNC):c.6848T>C (p.Met2283Thr) rs1174754248
NM_001458.5(FLNC):c.6856C>T (p.His2286Tyr)
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu) rs953084143
NM_001458.5(FLNC):c.6893C>A (p.Pro2298His)
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu) rs1382734231
NM_001458.5(FLNC):c.6905T>C (p.Phe2302Ser)
NM_001458.5(FLNC):c.6909G>C (p.Gln2303His)
NM_001458.5(FLNC):c.6912C>G (p.Phe2304Leu)
NM_001458.5(FLNC):c.691G>T (p.Val231Leu)
NM_001458.5(FLNC):c.6932A>C (p.Glu2311Ala)
NM_001458.5(FLNC):c.6937G>A (p.Gly2313Ser)
NM_001458.5(FLNC):c.6938G>A (p.Gly2313Asp) rs1808975955
NM_001458.5(FLNC):c.6946A>G (p.Lys2316Glu)
NM_001458.5(FLNC):c.6949G>A (p.Val2317Met)
NM_001458.5(FLNC):c.6987C>A (p.Ala2329=)
NM_001458.5(FLNC):c.699+3_699+7del
NM_001458.5(FLNC):c.6998-9T>A
NM_001458.5(FLNC):c.7000G>A (p.Glu2334Lys) rs1808984299
NM_001458.5(FLNC):c.7007G>T (p.Ser2336Ile)
NM_001458.5(FLNC):c.7016C>T (p.Thr2339Ile) rs1554401463
NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp) rs2128939610
NM_001458.5(FLNC):c.7025C>T (p.Ala2342Val) rs2128939613
NM_001458.5(FLNC):c.7028G>A (p.Gly2343Asp)
NM_001458.5(FLNC):c.7030G>C (p.Ala2344Pro) rs529917784
NM_001458.5(FLNC):c.7055A>T (p.Glu2352Val)
NM_001458.5(FLNC):c.7066A>G (p.Lys2356Glu) rs2128939626
NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val) rs765841097
NM_001458.5(FLNC):c.7070_7072del (p.Ala2357del) rs1554401479
NM_001458.5(FLNC):c.7075A>G (p.Ile2359Val) rs1554401481
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr) rs1390516682
NM_001458.5(FLNC):c.7078G>C (p.Ala2360Pro)
NM_001458.5(FLNC):c.707C>T (p.Ala236Val) rs771789906
NM_001458.5(FLNC):c.7082T>C (p.Phe2361Ser)
NM_001458.5(FLNC):c.7090C>A (p.Arg2364Ser) rs374973240
NM_001458.5(FLNC):c.7099G>A (p.Gly2367Ser)
NM_001458.5(FLNC):c.7106G>A (p.Cys2369Tyr) rs2128939641
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu) rs1585152751
NM_001458.5(FLNC):c.7118A>T (p.Tyr2373Phe) rs1021731214
NM_001458.5(FLNC):c.7138G>A (p.Asp2380Asn) rs1334300883
NM_001458.5(FLNC):c.7138G>C (p.Asp2380His) rs1334300883
NM_001458.5(FLNC):c.7142A>G (p.Tyr2381Cys)
NM_001458.5(FLNC):c.7171C>T (p.His2391Tyr) rs1554401558
NM_001458.5(FLNC):c.7176C>G (p.Ile2392Met) rs1585170543
NM_001458.5(FLNC):c.7177C>G (p.Pro2393Ala) rs1554401559
NM_001458.5(FLNC):c.7178C>G (p.Pro2393Arg)
NM_001458.5(FLNC):c.7178C>T (p.Pro2393Leu) rs2128939746
NM_001458.5(FLNC):c.7180G>C (p.Asp2394His) rs1554401561
NM_001458.5(FLNC):c.7186C>T (p.Pro2396Ser) rs1809007749
NM_001458.5(FLNC):c.7195G>A (p.Val2399Met) rs2128939752
NM_001458.5(FLNC):c.7198C>T (p.Pro2400Ser) rs1390223951
NM_001458.5(FLNC):c.719T>C (p.Ile240Thr) rs778626535
NM_001458.5(FLNC):c.71C>A (p.Thr24Lys) rs1251048006
NM_001458.5(FLNC):c.7204G>C (p.Ala2402Pro)
NM_001458.5(FLNC):c.7207T>C (p.Ser2403Pro)
NM_001458.5(FLNC):c.720_721inv (p.Val241Met)
NM_001458.5(FLNC):c.7210C>T (p.Leu2404Phe) rs764034824
NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu) rs2128939759
NM_001458.5(FLNC):c.7217A>T (p.Asp2406Val)
NM_001458.5(FLNC):c.7235C>T (p.Thr2412Ile)
NM_001458.5(FLNC):c.7238T>C (p.Val2413Ala)
NM_001458.5(FLNC):c.7252-12T>C
NM_001458.5(FLNC):c.7268T>A (p.Val2423Glu)
NM_001458.5(FLNC):c.7275G>C (p.Gln2425His) rs2128940112
NM_001458.5(FLNC):c.7276_7281del (p.Pro2426_Ala2427del)
NM_001458.5(FLNC):c.7303G>A (p.Gly2435Ser)
NM_001458.5(FLNC):c.7313G>A (p.Gly2438Asp) rs2128940134
NM_001458.5(FLNC):c.7313_7330dup (p.Gly2438_Arg2443dup) rs1554401762
NM_001458.5(FLNC):c.7318A>G (p.Ile2440Val)
NM_001458.5(FLNC):c.7319T>C (p.Ile2440Thr) rs764628080
NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp) rs1585171621
NM_001458.5(FLNC):c.7328G>C (p.Arg2443Pro) rs370293647
NM_001458.5(FLNC):c.7339C>A (p.Pro2447Thr) rs1554401770
NM_001458.5(FLNC):c.7342T>G (p.Ser2448Ala) rs2128940146
NM_001458.5(FLNC):c.7346G>A (p.Gly2449Glu) rs1322256692
NM_001458.5(FLNC):c.7348G>A (p.Ala2450Thr)
NM_001458.5(FLNC):c.7349C>A (p.Ala2450Asp) rs1809071622
NM_001458.5(FLNC):c.7379A>G (p.Asp2460Gly) rs2128940164
NM_001458.5(FLNC):c.7385-3C>A
NM_001458.5(FLNC):c.7386C>G (p.Asp2462Glu) rs2128940208
NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu)
NM_001458.5(FLNC):c.7393A>G (p.Thr2465Ala)
NM_001458.5(FLNC):c.7399C>G (p.Arg2467Gly)
NM_001458.5(FLNC):c.7400G>C (p.Arg2467Pro) rs775910704
NM_001458.5(FLNC):c.7402T>A (p.Phe2468Ile)
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys) rs948675422
NM_001458.5(FLNC):c.7420G>C (p.Gly2474Arg)
NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val)
NM_001458.5(FLNC):c.7427A>G (p.His2476Arg) rs1563005164
NM_001458.5(FLNC):c.7430C>A (p.Ser2477Tyr)
NM_001458.5(FLNC):c.7430C>T (p.Ser2477Phe) rs2128940229
NM_001458.5(FLNC):c.7439T>G (p.Val2480Gly)
NM_001458.5(FLNC):c.743A>T (p.His248Leu)
NM_001458.5(FLNC):c.7454C>T (p.Ala2485Val)
NM_001458.5(FLNC):c.7455C>G (p.Ala2485=) rs1554401819
NM_001458.5(FLNC):c.7462C>T (p.Pro2488Ser) rs1563005191
NM_001458.5(FLNC):c.7466G>A (p.Gly2489Glu) rs2128940243
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe) rs200295337
NM_001458.5(FLNC):c.7487T>C (p.Val2496Ala) rs1284210024
NM_001458.5(FLNC):c.7504G>A (p.Ala2502Thr) rs2128940257
NM_001458.5(FLNC):c.7507G>A (p.Gly2503Arg) rs2128940258
NM_001458.5(FLNC):c.7510G>A (p.Asp2504Asn)
NM_001458.5(FLNC):c.7513C>A (p.Pro2505Thr)
NM_001458.5(FLNC):c.7516G>A (p.Gly2506Ser) rs1809085479
NM_001458.5(FLNC):c.7516G>C (p.Gly2506Arg) rs1809085479
NM_001458.5(FLNC):c.751A>G (p.Met251Val)
NM_001458.5(FLNC):c.7523T>G (p.Val2508Gly) rs2128940265
NM_001458.5(FLNC):c.7528G>C (p.Ala2510Pro)
NM_001458.5(FLNC):c.7553G>A (p.Gly2518Asp)
NM_001458.5(FLNC):c.7556C>A (p.Thr2519Asn)
NM_001458.5(FLNC):c.7561+3G>A
NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg)
NM_001458.5(FLNC):c.7562-2_7581dup rs1809097279
NM_001458.5(FLNC):c.7562-3C>G
NM_001458.5(FLNC):c.7562-3C>T rs1358745378
NM_001458.5(FLNC):c.7565T>C (p.Val2522Ala)
NM_001458.5(FLNC):c.7580T>G (p.Ile2527Ser) rs749891076
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys) rs377522797
NM_001458.5(FLNC):c.7597G>A (p.Ala2533Thr)
NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro)
NM_001458.5(FLNC):c.7600G>A (p.Gly2534Ser)
NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys) rs372504725
NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val) rs778822005
NM_001458.5(FLNC):c.7606G>A (p.Gly2536Arg) rs1809100312
NM_001458.5(FLNC):c.7606G>C (p.Gly2536Arg) rs1809100312
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) rs201486752
NM_001458.5(FLNC):c.7610C>A (p.Ala2537Asp) rs1394723230
NM_001458.5(FLNC):c.7624A>G (p.Ile2542Val)
NM_001458.5(FLNC):c.7626T>G (p.Ile2542Met) rs1554401890
NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser) rs2128940366
NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr) rs200673841
NM_001458.5(FLNC):c.7649T>C (p.Leu2550Pro)
NM_001458.5(FLNC):c.7664G>C (p.Cys2555Ser) rs1585172407
NM_001458.5(FLNC):c.7666C>G (p.Pro2556Ala) rs765967888
NM_001458.5(FLNC):c.7667C>T (p.Pro2556Leu) rs1809104361
NM_001458.5(FLNC):c.7679T>C (p.Val2560Ala) rs931678640
NM_001458.5(FLNC):c.7690A>C (p.Thr2564Pro)
NM_001458.5(FLNC):c.7690A>T (p.Thr2564Ser)
NM_001458.5(FLNC):c.7691C>T (p.Thr2564Ile) rs1405868407
NM_001458.5(FLNC):c.7693C>T (p.Pro2565Ser) rs1554401906
NM_001458.5(FLNC):c.7696A>G (p.Met2566Val)
NM_001458.5(FLNC):c.7697T>C (p.Met2566Thr)
NM_001458.5(FLNC):c.7699G>A (p.Ala2567Thr)
NM_001458.5(FLNC):c.76A>G (p.Lys26Glu) rs1562988843
NM_001458.5(FLNC):c.7703C>T (p.Pro2568Leu)
NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr)
NM_001458.5(FLNC):c.7727A>C (p.Lys2576Thr) rs1554401912
NM_001458.5(FLNC):c.7728G>T (p.Lys2576Asn)
NM_001458.5(FLNC):c.7748T>C (p.Ile2583Thr)
NM_001458.5(FLNC):c.7765A>G (p.Lys2589Glu) rs1809109347
NM_001458.5(FLNC):c.7768G>T (p.Ala2590Ser) rs1354641654
NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg)
NM_001458.5(FLNC):c.7774G>T (p.Val2592Phe) rs1268909811
NM_001458.5(FLNC):c.7780+3G>C
NM_001458.5(FLNC):c.7781-3C>T rs1444704657
NM_001458.5(FLNC):c.7781-8C>G rs1363938739
NM_001458.5(FLNC):c.7798G>A (p.Gly2600Ser)
NM_001458.5(FLNC):c.77A>C (p.Lys26Thr) rs2128932111
NM_001458.5(FLNC):c.7813G>A (p.Glu2605Lys) rs1480530077
NM_001458.5(FLNC):c.7819T>G (p.Ser2607Ala) rs1809143753
NM_001458.5(FLNC):c.7832T>G (p.Val2611Gly) rs2128940575
NM_001458.5(FLNC):c.7836G>C (p.Glu2612Asp)
NM_001458.5(FLNC):c.783G>C (p.Lys261Asn) rs976229219
NM_001458.5(FLNC):c.7847A>C (p.Lys2616Thr) rs1585172975
NM_001458.5(FLNC):c.7858A>T (p.Ser2620Cys)
NM_001458.5(FLNC):c.7864G>T (p.Gly2622Cys) rs2128940583
NM_001458.5(FLNC):c.7893CTC[1] (p.Ser2633del) rs767277303
NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys) rs1563005954
NM_001458.5(FLNC):c.7907G>A (p.Ser2636Asn)
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile) rs1424306829
NM_001458.5(FLNC):c.7915G>A (p.Val2639Met) rs2128940599
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp) rs750629528
NM_001458.5(FLNC):c.7931G>C (p.Gly2644Ala) rs2128940603
NM_001458.5(FLNC):c.7934T>C (p.Leu2645Pro)
NM_001458.5(FLNC):c.7949T>A (p.Val2650Glu)
NM_001458.5(FLNC):c.7956G>C (p.Gln2652His)
NM_001458.5(FLNC):c.796G>A (p.Ala266Thr)
NM_001458.5(FLNC):c.7979G>A (p.Cys2660Tyr)
NM_001458.5(FLNC):c.797C>T (p.Ala266Val)
NM_001458.5(FLNC):c.7982G>A (p.Ser2661Asn)
NM_001458.5(FLNC):c.7990+11G>A
NM_001458.5(FLNC):c.7991-3C>T
NM_001458.5(FLNC):c.7999ATG[2] (p.Met2669del) rs1809158348
NM_001458.5(FLNC):c.8002A>G (p.Met2668Val)
NM_001458.5(FLNC):c.8007G>A (p.Met2669Ile)
NM_001458.5(FLNC):c.8009T>C (p.Val2670Ala)
NM_001458.5(FLNC):c.8014G>A (p.Val2672Met)
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln) rs112180788
NM_001458.5(FLNC):c.8023C>T (p.Pro2675Ser) rs1563006093
NM_001458.5(FLNC):c.8026A>G (p.Lys2676Glu)
NM_001458.5(FLNC):c.8033C>T (p.Pro2678Leu)
NM_001458.5(FLNC):c.8050G>A (p.Val2684Met)
NM_001458.5(FLNC):c.8051T>C (p.Val2684Ala) rs1585173265
NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile)
NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln) rs1585173273
NM_001458.5(FLNC):c.8078A>T (p.Asn2693Ile)
NM_001458.5(FLNC):c.8087A>G (p.Tyr2696Cys) rs2128940675
NM_001458.5(FLNC):c.8098G>A (p.Glu2700Lys) rs2128940691
NM_001458.5(FLNC):c.8103A>T (p.Lys2701Asn)
NM_001458.5(FLNC):c.8109C>G (p.Asp2703Glu) rs1809164297
NM_001458.5(FLNC):c.8112C>A (p.Tyr2704Ter)
NM_001458.5(FLNC):c.8113A>C (p.Ile2705Leu) rs1809164468
NM_001458.5(FLNC):c.8117T>C (p.Leu2706Pro) rs2128940703
NM_001458.5(FLNC):c.8121T>G (p.Ile2707Met) rs28437296
NM_001458.5(FLNC):c.8121_8122inv (p.Val2708Ile)
NM_001458.5(FLNC):c.8131G>A (p.Gly2711Ser) rs1809165876
NM_001458.5(FLNC):c.8131G>T (p.Gly2711Cys) rs1809165876
NM_001458.5(FLNC):c.8140dup (p.Ser2714fs) rs1554402084
NM_001458.5(FLNC):c.8143G>T (p.Val2715Phe) rs370832402
NM_001458.5(FLNC):c.8156C>T (p.Pro2719Leu) rs1585173375
NM_001458.5(FLNC):c.8163A>T (p.Lys2721Asn) rs2128940727
NM_001458.5(FLNC):c.8168A>T (p.Lys2723Met)
NM_001458.5(FLNC):c.8171T>C (p.Val2724Ala) rs770027151
NM_001458.5(FLNC):c.8174C>G (p.Pro2725Arg) rs2128940731
NM_001458.5(FLNC):c.8174C>T (p.Pro2725Leu) rs2128940731
NM_001458.5(FLNC):c.8178A>G (p.Ter2726Trp) rs1563006225
NM_001458.5(FLNC):c.824C>A (p.Pro275His) rs1249075788
NM_001458.5(FLNC):c.835A>G (p.Ile279Val) rs1243812099
NM_001458.5(FLNC):c.838G>A (p.Ala280Thr)
NM_001458.5(FLNC):c.849T>C (p.Pro283=)
NM_001458.5(FLNC):c.850+12C>T
NM_001458.5(FLNC):c.850+4T>C rs368602593
NM_001458.5(FLNC):c.850+4T>G rs368602593
NM_001458.5(FLNC):c.850+5G>A rs2128934199
NM_001458.5(FLNC):c.853A>G (p.Ile285Val)
NM_001458.5(FLNC):c.856G>C (p.Glu286Gln) rs1274480597
NM_001458.5(FLNC):c.860C>T (p.Pro287Leu)
NM_001458.5(FLNC):c.862C>A (p.Gln288Lys) rs1808151858
NM_001458.5(FLNC):c.863A>G (p.Gln288Arg) rs1808151950
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp) rs1329109141
NM_001458.5(FLNC):c.86C>T (p.Ala29Val) rs2128932114
NM_001458.5(FLNC):c.874G>T (p.Val292Leu) rs1275499234
NM_001458.5(FLNC):c.886G>A (p.Ala296Thr)
NM_001458.5(FLNC):c.887C>T (p.Ala296Val) rs2128934235
NM_001458.5(FLNC):c.88G>A (p.Glu30Lys) rs2128932116
NM_001458.5(FLNC):c.896_897delinsTT (p.Thr299Ile) rs1562992080
NM_001458.5(FLNC):c.899T>G (p.Val300Gly) rs2128934238
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala) rs1410531577
NM_001458.5(FLNC):c.907G>A (p.Val303Met) rs1554397562
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr) rs1312282118
NM_001458.5(FLNC):c.914C>G (p.Ala305Gly) rs966097091
NM_001458.5(FLNC):c.914C>T (p.Ala305Val)
NM_001458.5(FLNC):c.92A>T (p.Asp31Val)
NM_001458.5(FLNC):c.934G>A (p.Val312Ile) rs2128934250
NM_001458.5(FLNC):c.935T>G (p.Val312Gly) rs1808156535
NM_001458.5(FLNC):c.946G>C (p.Asp316His)
NM_001458.5(FLNC):c.949C>A (p.Pro317Thr) rs1562992145
NM_001458.5(FLNC):c.953A>C (p.Glu318Ala) rs2128934254
NM_001458.5(FLNC):c.95C>T (p.Ala32Val) rs2128932120
NM_001458.5(FLNC):c.964G>A (p.Glu322Lys)
NM_001458.5(FLNC):c.967G>A (p.Glu323Lys) rs1562992158
NM_001458.5(FLNC):c.970-5A>C rs199755800
NM_001458.5(FLNC):c.970G>A (p.Ala324Thr)
NM_001458.5(FLNC):c.982C>T (p.Pro328Ser) rs1808168813
NM_001458.5(FLNC):c.987C>A (p.Asn329Lys) rs1808169217
NM_001458.5(FLNC):c.992A>G (p.Asp331Gly) rs1808169515
NM_001843.4(CNTN1):c.1070A>C (p.Lys357Thr) rs2136929850
NM_001843.4(CNTN1):c.1078C>G (p.Pro360Ala)
NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly)
NM_001843.4(CNTN1):c.1109C>T (p.Ala370Val) rs1451321171
NM_001843.4(CNTN1):c.1110+8T>A
NM_001843.4(CNTN1):c.1110G>A (p.Ala370=) rs770501938
NM_001843.4(CNTN1):c.1116T>G (p.His372Gln)
NM_001843.4(CNTN1):c.1190A>G (p.Tyr397Cys) rs1565989995
NM_001843.4(CNTN1):c.1249A>G (p.Met417Val) rs1946186464
NM_001843.4(CNTN1):c.1258A>G (p.Met420Val)
NM_001843.4(CNTN1):c.1259T>C (p.Met420Thr)
NM_001843.4(CNTN1):c.1271T>C (p.Ile424Thr) rs1269192212
NM_001843.4(CNTN1):c.1292G>A (p.Arg431Lys) rs756198153
NM_001843.4(CNTN1):c.1295T>A (p.Val432Glu)
NM_001843.4(CNTN1):c.1315A>G (p.Lys439Glu) rs748101740
NM_001843.4(CNTN1):c.131A>T (p.Glu44Val) rs1945329610
NM_001843.4(CNTN1):c.1381A>C (p.Ile461Leu) rs1337032945
NM_001843.4(CNTN1):c.1414A>C (p.Asn472His) rs1946336293
NM_001843.4(CNTN1):c.1415ACA[1] (p.Asn473del) rs2136950735
NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr) rs745586631
NM_001843.4(CNTN1):c.1508A>T (p.Asp503Val) rs199754941
NM_001843.4(CNTN1):c.1540G>A (p.Ala514Thr) rs1167071121
NM_001843.4(CNTN1):c.1564G>A (p.Ala522Thr)
NM_001843.4(CNTN1):c.160G>A (p.Glu54Lys) rs1945330731
NM_001843.4(CNTN1):c.1631G>T (p.Gly544Val)
NM_001843.4(CNTN1):c.1636G>C (p.Val546Leu)
NM_001843.4(CNTN1):c.1642G>A (p.Asp548Asn) rs1805062496
NM_001843.4(CNTN1):c.1681A>G (p.Met561Val) rs2136952998
NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser) rs747622764
NM_001843.4(CNTN1):c.1731T>G (p.His577Gln) rs770173257
NM_001843.4(CNTN1):c.1739G>A (p.Arg580Lys) rs1286090767
NM_001843.4(CNTN1):c.1754C>T (p.Ala585Val) rs2137007039
NM_001843.4(CNTN1):c.1757A>G (p.Gln586Arg)
NM_001843.4(CNTN1):c.1762A>G (p.Ile588Val) rs555223029
NM_001843.4(CNTN1):c.1789G>C (p.Asp597His)
NM_001843.4(CNTN1):c.1804+5G>A
NM_001843.4(CNTN1):c.1836A>G (p.Ile612Met) rs1592357953
NM_001843.4(CNTN1):c.1874G>T (p.Ser625Ile)
NM_001843.4(CNTN1):c.1895G>A (p.Ser632Asn) rs199886411
NM_001843.4(CNTN1):c.1921A>T (p.Thr641Ser) rs1555193694
NM_001843.4(CNTN1):c.1948A>G (p.Lys650Glu) rs1947806765
NM_001843.4(CNTN1):c.1966C>T (p.Pro656Ser) rs2120504473
NM_001843.4(CNTN1):c.1996G>T (p.Ala666Ser) rs1948132905
NM_001843.4(CNTN1):c.2035T>A (p.Phe679Ile)
NM_001843.4(CNTN1):c.203G>A (p.Arg68Gln) rs2136857338
NM_001843.4(CNTN1):c.20T>A (p.Val7Asp)
NM_001843.4(CNTN1):c.2140G>C (p.Gly714Arg)
NM_001843.4(CNTN1):c.2144G>A (p.Gly715Asp)
NM_001843.4(CNTN1):c.2153G>A (p.Gly718Glu)
NM_001843.4(CNTN1):c.2167C>G (p.Leu723Val)
NM_001843.4(CNTN1):c.2183C>A (p.Ala728Glu) rs201782849
NM_001843.4(CNTN1):c.2184G>A (p.Ala728=) rs764189993
NM_001843.4(CNTN1):c.221T>G (p.Val74Gly)
NM_001843.4(CNTN1):c.2246T>G (p.Phe749Cys)
NM_001843.4(CNTN1):c.2252G>A (p.Gly751Glu) rs1948790119
NM_001843.4(CNTN1):c.227A>G (p.Lys76Arg) rs1355732702
NM_001843.4(CNTN1):c.228-3_228-2del rs1945468731
NM_001843.4(CNTN1):c.2285C>G (p.Pro762Arg)
NM_001843.4(CNTN1):c.2294G>A (p.Gly765Asp) rs1555199605
NM_001843.4(CNTN1):c.2297G>A (p.Arg766Gln) rs267603461
NM_001843.4(CNTN1):c.2324G>T (p.Ser775Ile)
NM_001843.4(CNTN1):c.2365A>G (p.Asn789Asp) rs2120747529
NM_001843.4(CNTN1):c.2369A>C (p.Lys790Thr) rs771483189
NM_001843.4(CNTN1):c.2375A>T (p.Asp792Val) rs1250582749
NM_001843.4(CNTN1):c.2418C>T (p.Asp806=)
NM_001843.4(CNTN1):c.2495T>G (p.Val832Gly) rs780316987
NM_001843.4(CNTN1):c.2498T>C (p.Leu833Ser) rs1205621429
NM_001843.4(CNTN1):c.2510T>G (p.Val837Gly)
NM_001843.4(CNTN1):c.2523+5G>A
NM_001843.4(CNTN1):c.2524A>G (p.Ile842Val) rs2120816290
NM_001843.4(CNTN1):c.2530T>C (p.Tyr844His) rs781106271
NM_001843.4(CNTN1):c.2537C>T (p.Ala846Val) rs1390271155
NM_001843.4(CNTN1):c.2543A>C (p.His848Pro) rs769577018
NM_001843.4(CNTN1):c.2605G>A (p.Glu869Lys)
NM_001843.4(CNTN1):c.2620G>C (p.Asp874His)
NM_001843.4(CNTN1):c.262A>G (p.Ser88Gly) rs1945470430
NM_001843.4(CNTN1):c.2683A>C (p.Met895Leu) rs1253543758
NM_001843.4(CNTN1):c.269G>A (p.Arg90Gln)
NM_001843.4(CNTN1):c.2725C>G (p.Pro909Ala)
NM_001843.4(CNTN1):c.2758C>T (p.Arg920Cys)
NM_001843.4(CNTN1):c.2816G>T (p.Gly939Val) rs1248588484
NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)
NM_001843.4(CNTN1):c.2854G>A (p.Gly952Ser)
NM_001843.4(CNTN1):c.2896A>G (p.Ile966Val)
NM_001843.4(CNTN1):c.2906A>G (p.Asp969Gly) rs1592428509
NM_001843.4(CNTN1):c.2930G>A (p.Arg977His)
NM_001843.4(CNTN1):c.3002G>A (p.Ser1001Asn)
NM_001843.4(CNTN1):c.3023C>T (p.Pro1008Leu) rs768617895
NM_001843.4(CNTN1):c.3037C>A (p.Leu1013Ile)
NM_001843.4(CNTN1):c.3050A>C (p.Glu1017Ala) rs2121173738
NM_001843.4(CNTN1):c.409C>G (p.Pro137Ala)
NM_001843.4(CNTN1):c.40T>A (p.Ser14Thr) rs145406782
NM_001843.4(CNTN1):c.428G>C (p.Arg143Pro) rs758820625
NM_001843.4(CNTN1):c.436G>A (p.Val146Ile)
NM_001843.4(CNTN1):c.43A>G (p.Ile15Val) rs1944915906
NM_001843.4(CNTN1):c.457G>C (p.Gly153Arg)
NM_001843.4(CNTN1):c.497-7C>A rs2136906588
NM_001843.4(CNTN1):c.499G>A (p.Asp167Asn) rs1285012875
NM_001843.4(CNTN1):c.49A>C (p.Thr17Pro)
NM_001843.4(CNTN1):c.512G>T (p.Arg171Leu) rs201037986
NM_001843.4(CNTN1):c.618A>C (p.Lys206Asn)
NM_001843.4(CNTN1):c.62A>G (p.Glu21Gly) rs2136817438
NM_001843.4(CNTN1):c.644G>A (p.Ser215Asn) rs1555182848
NM_001843.4(CNTN1):c.646C>T (p.Pro216Ser)
NM_001843.4(CNTN1):c.663C>G (p.Ser221Arg)
NM_001843.4(CNTN1):c.678C>A (p.Phe226Leu) rs868602241
NM_001843.4(CNTN1):c.68C>T (p.Thr23Ile)
NM_001843.4(CNTN1):c.692C>T (p.Pro231Leu)
NM_001843.4(CNTN1):c.695T>C (p.Ile232Thr) rs763560467
NM_001843.4(CNTN1):c.697C>G (p.Pro233Ala) rs1945827865
NM_001843.4(CNTN1):c.701_703dup (p.Glu234_Arg235insGln)
NM_001843.4(CNTN1):c.707C>A (p.Thr236Lys)
NM_001843.4(CNTN1):c.724G>A (p.Ala242Thr) rs758956439
NM_001843.4(CNTN1):c.751G>A (p.Val251Ile) rs2136919426
NM_001843.4(CNTN1):c.761T>G (p.Leu254Trp) rs1592279096
NM_001843.4(CNTN1):c.770A>G (p.Gln257Arg)
NM_001843.4(CNTN1):c.771A>G (p.Gln257=) rs2136919555
NM_001843.4(CNTN1):c.774T>G (p.Asn258Lys) rs1945970839
NM_001843.4(CNTN1):c.775G>A (p.Val259Met) rs1945970944
NM_001843.4(CNTN1):c.812C>T (p.Pro271Leu) rs1158555477
NM_001843.4(CNTN1):c.82T>C (p.Tyr28His) rs2136817543
NM_001843.4(CNTN1):c.907G>C (p.Glu303Gln) rs1487254662
NM_001843.4(CNTN1):c.908A>C (p.Glu303Ala) rs1283320182
NM_001843.4(CNTN1):c.919A>G (p.Ile307Val) rs756830197
NM_001843.4(CNTN1):c.94+4A>G
NM_001843.4(CNTN1):c.950G>A (p.Gly317Glu) rs1945984350
NM_001848.2(COL6A1):c.1568_1575+1dup rs2077817384
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA rs2077768137
NM_001848.3(COL6A1):c.1002+6_1002+89del
NM_001848.3(COL6A1):c.1002+6_1003-135del rs2123472135
NM_001848.3(COL6A1):c.1003-3C>G rs1171069767
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del) rs398123630
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg) rs1569518250
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp) rs142882745
NM_001848.3(COL6A1):c.1056+4A>C rs886043433
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr) rs762443936
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr) rs1603589147
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln) rs144677931
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr) rs2123474648
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala) rs2123474665
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=) rs1423443362
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr) rs983326119
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp) rs772775334
NM_001848.3(COL6A1):c.1236+5G>C rs376327142
NM_001848.3(COL6A1):c.1239G>T (p.Gly413=) rs1245856941
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp) rs1034465336
NM_001848.3(COL6A1):c.1272+3G>A rs2123475120
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser) rs2077783907
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
NM_001848.3(COL6A1):c.1335+3G>A
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys) rs762989478
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe) rs375452881
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=) rs886042955
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys) rs1235513102
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg) rs766667205
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp) rs117340427
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr) rs760275915
NM_001848.3(COL6A1):c.14G>A (p.Arg5His) rs1556423460
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu) rs1556428597
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser) rs2123482543
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser) rs2123483067
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu) rs2077817452
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT rs758434455
NM_001848.3(COL6A1):c.1575+2dup rs758434455
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys) rs200023632
NM_001848.3(COL6A1):c.1612-3C>T rs767913216
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg) rs1603593300
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr) rs1397088680
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg) rs2077822326
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
NM_001848.3(COL6A1):c.1674+3_1674+6del
NM_001848.3(COL6A1):c.1675-5T>G
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr) rs775182845
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp) rs755214430
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg) rs1359915404
NM_001848.3(COL6A1):c.1740+3G>A
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu) rs1188795991
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)
NM_001848.3(COL6A1):c.1813+3_1813+6del
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA rs2077839436
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val) rs1222901174
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe) rs1423091612
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu) rs150938324
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly) rs1603589342
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu) rs552239546
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu) rs112104768
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu) rs1260709010
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu) rs2123459059
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu) rs373731596
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg) rs2123490353
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val) rs2123490392
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup) rs2123490613
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
NM_001848.3(COL6A1):c.2251-11_2251-8del
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=) rs1434098396
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr) rs2077853664
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu) rs1203093809
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer) rs2077854422
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC rs2123491106
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT rs1569519146
NM_001848.3(COL6A1):c.2434+14_2434+15inv
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC rs2123491242
NM_001848.3(COL6A1):c.2434+4C>T rs202147670
NM_001848.3(COL6A1):c.2434+5G>T rs1360722232
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln) rs2123491909
NM_001848.3(COL6A1):c.2464+1G>A rs113290209
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val) rs1486288129
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro) rs748327110
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro) rs2077862405
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met) rs1226903258
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly) rs766517983
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del) rs2123492948
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del) rs886043457
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr) rs1569519253
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val) rs1316734507
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp) rs1603595132
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys) rs201456885
NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln) rs1180948133
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs) rs766289958
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn) rs1603589594
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val) rs1300015385
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr) rs1454397058
NM_001848.3(COL6A1):c.424G>A (p.Val142Met) rs144282452
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
NM_001848.3(COL6A1):c.428+5G>A rs1603589628
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val) rs2077739763
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg) rs980266782
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala) rs1309872535
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val) rs1385535913
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr) rs2077740453
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr) rs1556424938
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala) rs766184155
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val) rs1273238821
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr) rs2077740811
NM_001848.3(COL6A1):c.588+12_588+13delinsTA rs2123466169
NM_001848.3(COL6A1):c.589-3C>T rs1288681930
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu) rs780638665
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr) rs2077743440
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn) rs2123466789
NM_001848.3(COL6A1):c.717+9C>G
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
NM_001848.3(COL6A1):c.720A>G (p.Lys240=) rs147612667
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
NM_001848.3(COL6A1):c.760-3C>T
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr) rs2077747487
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
NM_001848.3(COL6A1):c.858+5G>A rs2123470416
NM_001848.3(COL6A1):c.858+5G>T
NM_001848.3(COL6A1):c.85G>A (p.Val29Met) rs766057159
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala) rs777764932
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
NM_001848.3(COL6A1):c.894G>C (p.Gln298His) rs371989252
NM_001848.3(COL6A1):c.904-10G>A rs794727027
NM_001848.3(COL6A1):c.904-39A>T rs1569518138
NM_001848.3(COL6A1):c.904-3T>G
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val) rs2077763346
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
NM_001848.3(COL6A1):c.930+20G>A
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val) rs1556425679
NM_001848.3(COL6A1):c.957+4A>T
NM_001848.3(COL6A1):c.958-3_958-2del
NM_001848.3(COL6A1):c.98-6G>A rs886042599
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
NM_001849.3(COL6A2):c.-91_3071dup
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg) rs2123631275
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg) rs2078490056
NM_001849.4(COL6A2):c.1046_1053+1del
NM_001849.4(COL6A2):c.1053+3A>T rs1555873388
NM_001849.4(COL6A2):c.1053+4dup
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val) rs2078500027
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val) rs1601229481
NM_001849.4(COL6A2):c.1116+6T>G
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg) rs753834270
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1]) rs2123635719
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser) rs2078399168
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
NM_001849.4(COL6A2):c.115+6A>G rs886042882
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala) rs756966358
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg) rs1568931875
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly) rs1248584370
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu) rs371383704
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg) rs2123637568
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu) rs761030439
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=) rs144136807
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys) rs761330909
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del) rs2078532600
NM_001849.4(COL6A2):c.1332+20C>T rs1222615509
NM_001849.4(COL6A2):c.1336G>T (p.Asp446Tyr)
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser) rs1269914621
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
NM_001849.4(COL6A2):c.1395+5G>C rs1373123496
NM_001849.4(COL6A2):c.1396-26_1396-10del rs1601237036
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn) rs1464567484
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu) rs746541506
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala) rs2123614177
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His) rs1472257957
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp) rs2123645059
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
NM_001849.4(COL6A2):c.1458+3_1458+6del rs765084926
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His) rs2078559618
NM_001849.4(COL6A2):c.1459-5C>G rs1362389378
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly) rs727502829
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser) rs778917725
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
NM_001849.4(COL6A2):c.1521+4C>T rs886043036
NM_001849.4(COL6A2):c.1522-3C>T
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala) rs756315481
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His) rs2078576778
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly) rs769563817
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser) rs2078577021
NM_001849.4(COL6A2):c.1572+5G>A
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val) rs2123650884
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys) rs2123650926
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3]) rs773493556
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser) rs2078589816
NM_001849.4(COL6A2):c.1671+4_1671+7del rs2078589929
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=) rs2078589880
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr) rs1035008109
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser) rs1172190604
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg) rs2078631679
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser) rs2078397289
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu) rs2123658612
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr) rs779979272
NM_001849.4(COL6A2):c.1751_1770+24dup rs2078635959
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu) rs1568938716
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys) rs142709940
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr) rs886043225
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro) rs147892526
NM_001849.4(COL6A2):c.1816+3G>A
NM_001849.4(COL6A2):c.1816+6G>A
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn) rs747602311
NM_001849.4(COL6A2):c.1817-16C>G
NM_001849.4(COL6A2):c.1817-2dup
NM_001849.4(COL6A2):c.1817-3C>A rs112645828
NM_001849.4(COL6A2):c.1817-3C>T rs112645828
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn) rs2078648587
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr) rs2123662036
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala) rs141919484
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly) rs141919484
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
NM_001849.4(COL6A2):c.1969+4A>G rs775997945
NM_001849.4(COL6A2):c.1970-14C>T rs749228434
NM_001849.4(COL6A2):c.1970-3C>T rs201879417
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys) rs727502830
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met) rs2123663062
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe) rs2078406730
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg) rs1245904841
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn) rs886042884
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp) rs564873527
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del) rs2078657129
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln) rs377376395
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) rs794727417
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro) rs2123663738
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp) rs1555875708
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val) rs1555875708
NM_001849.4(COL6A2):c.2132A>T (p.Tyr711Phe)
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met) rs2123663867
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu) rs1555875749
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly) rs2078660025
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr) rs2123664136
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp) rs2123664140
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile) rs886042625
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His) rs2078662932
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser) rs1601251344
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met) rs1194893303
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro) rs75120695
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser) rs746466184
NM_001849.4(COL6A2):c.2360C>T (p.Thr787Met)
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro) rs1568940864
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del) rs747378168
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn) rs1312736604
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr) rs749043206
NM_001849.4(COL6A2):c.2423-3C>T
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
NM_001849.4(COL6A2):c.2462-3C>T rs766469768
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr) rs778134390
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro) rs2078765932
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg) rs2078765932
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro) rs1568947214
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val) rs2078767000
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly) rs759689002
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
NM_001849.4(COL6A2):c.2568G>A (p.Val856=) rs2123454687
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla) rs753952104
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys) rs200488881
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys) rs865872231
NM_001849.4(COL6A2):c.2609A>G (p.Asp870Gly)
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg) rs770956606
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
NM_001849.4(COL6A2):c.267G>C (p.Gln89His) rs1452398707
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn) rs112139050
NM_001849.4(COL6A2):c.2689_2691del (p.Asn897del)
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del) rs777696289
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.4(COL6A2):c.2743T>C (p.Ser915Pro) rs1290912034
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr) rs2123455277
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg) rs2123455354
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu) rs1426096612
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys) rs1321329142
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu) rs374384263
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del) rs2123455541
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu) rs2123455553
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg) rs367980010
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup) rs775193167
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg) rs147670858
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met) rs147670858
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp) rs1274304291
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro) rs2123455695
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn) rs373184224
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala) rs771847588
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser) rs201188174
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup) rs1568948073
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro) rs754429992
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu) rs145959270
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup) rs762259160
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val) rs781544781
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His) rs2123456038
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=) rs6652
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu) rs1555877365
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del) rs750794022
NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn) rs1601270126
NM_001849.4(COL6A2):c.300C>G (p.His100Gln) rs765941470
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del) rs2078776370
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys) rs2078776827
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg) rs1365013453
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser) rs561771249
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile) rs2078397134
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr) rs982087527
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly) rs749711324
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr) rs1568925911
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn) rs1216448596
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del) rs2078413886
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu) rs376291264
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser) rs765361834
NM_001849.4(COL6A2):c.582G>C (p.Gln194His) rs1601218622
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr) rs2078398153
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met) rs760395633
NM_001849.4(COL6A2):c.626A>T (p.His209Leu) rs1413478268
NM_001849.4(COL6A2):c.627C>G (p.His209Gln) rs545218705
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met) rs773058625
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro) rs1208218678
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe) rs2078418524
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del) rs775693562
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
NM_001849.4(COL6A2):c.679G>C (p.Asp227His) rs35881321
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
NM_001849.4(COL6A2):c.735+6T>C rs2078423797
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile) rs2123612816
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
NM_001849.4(COL6A2):c.745G>A (p.Val249Met) rs1454103225
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln) rs753370790
NM_001849.4(COL6A2):c.801+2dup rs2123620848
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg) rs778546141
NM_001849.4(COL6A2):c.856-24_856-10del
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr) rs1568928972
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu) rs2123626180
NM_001849.4(COL6A2):c.900+5G>A
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu) rs1472672400
NM_001849.4(COL6A2):c.927+5G>C
NM_001849.4(COL6A2):c.954+3A>G rs2123628260
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val) rs1444127463
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
NM_001849.4(COL6A2):c.999+6G>A
NM_001927.4(DES):c.1000G>A (p.Glu334Lys) rs1227068284
NM_001927.4(DES):c.1004T>C (p.Ile335Thr) rs1954429245
NM_001927.4(DES):c.1009G>T (p.Ala337Ser) rs59962885
NM_001927.4(DES):c.100G>A (p.Val34Met)
NM_001927.4(DES):c.1010C>A (p.Ala337Asp) rs1954429477
NM_001927.4(DES):c.1017G>C (p.Lys339Asn) rs1954429823
NM_001927.4(DES):c.1019G>A (p.Gly340Asp) rs1559353118
NM_001927.4(DES):c.1022C>T (p.Thr341Ile) rs1338606921
NM_001927.4(DES):c.1023+5G>A
NM_001927.4(DES):c.1023+6_1023+24dup
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1030T>C (p.Ser344Pro) rs886044226
NM_001927.4(DES):c.103T>C (p.Phe35Leu)
NM_001927.4(DES):c.1043A>T (p.Gln348Leu) rs1411703397
NM_001927.4(DES):c.1045A>G (p.Met349Val)
NM_001927.4(DES):c.1049G>T (p.Arg350Leu) rs57965306
NM_001927.4(DES):c.104T>C (p.Phe35Ser) rs1575012999
NM_001927.4(DES):c.105C>G (p.Phe35Leu) rs768166041
NM_001927.4(DES):c.1063C>G (p.Arg355Gly) rs762808690
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.106C>T (p.Pro36Ser)
NM_001927.4(DES):c.1078G>T (p.Ala360Ser) rs121913000
NM_001927.4(DES):c.1085G>A (p.Gly362Asp)
NM_001927.4(DES):c.1090C>A (p.Gln364Lys) rs1224165687
NM_001927.4(DES):c.1092G>T (p.Gln364His)
NM_001927.4(DES):c.1093G>C (p.Asp365His)
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1097A>G (p.Asn366Ser)
NM_001927.4(DES):c.1099A>G (p.Ile367Val) rs62636494
NM_001927.4(DES):c.109C>G (p.Arg37Gly) rs537881554
NM_001927.4(DES):c.1100T>C (p.Ile367Thr) rs1480755998
NM_001927.4(DES):c.1103_1104delinsTA (p.Ala368Val) rs2125168708
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys) rs2125168717
NM_001927.4(DES):c.1106G>A (p.Arg369His)
NM_001927.4(DES):c.1106G>T (p.Arg369Leu) rs1168604493
NM_001927.4(DES):c.110G>T (p.Arg37Leu) rs1954363342
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del) rs2125168730
NM_001927.4(DES):c.1118A>C (p.Glu373Ala)
NM_001927.4(DES):c.1119A>C (p.Glu373Asp) rs780628142
NM_001927.4(DES):c.1124G>A (p.Arg375Gln)
NM_001927.4(DES):c.1126C>G (p.His376Asp)
NM_001927.4(DES):c.1133A>G (p.Lys378Arg) rs202010947
NM_001927.4(DES):c.1144G>A (p.Ala382Thr) rs1954441688
NM_001927.4(DES):c.1147C>A (p.Arg383Ser) rs748945548
NM_001927.4(DES):c.1148G>C (p.Arg383Pro) rs1292042317
NM_001927.4(DES):c.1151A>C (p.His384Pro)
NM_001927.4(DES):c.1153C>G (p.Leu385Val) rs1393155504
NM_001927.4(DES):c.1158_1160del (p.Glu387del) rs1559353314
NM_001927.4(DES):c.1159G>A (p.Glu387Lys) rs865961434
NM_001927.4(DES):c.115G>A (p.Gly39Ser) rs758434755
NM_001927.4(DES):c.1166A>G (p.Gln389Arg)
NM_001927.4(DES):c.1172T>C (p.Leu391Pro) rs1954443135
NM_001927.4(DES):c.1172T>G (p.Leu391Arg) rs1954443135
NM_001927.4(DES):c.1180G>T (p.Val394Leu) rs776786349
NM_001927.4(DES):c.1187T>C (p.Met396Thr)
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) rs727502951
NM_001927.4(DES):c.1193T>C (p.Leu398Pro) rs796115330
NM_001927.4(DES):c.1193del (p.Leu398fs) rs2125168879
NM_001927.4(DES):c.11C>A (p.Ala4Asp)
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) rs1553603571
NM_001927.4(DES):c.1205T>G (p.Ile402Ser) rs1553603571
NM_001927.4(DES):c.1208C>A (p.Ala403Asp)
NM_001927.4(DES):c.1218G>T (p.Arg406=)
NM_001927.4(DES):c.1219A>C (p.Lys407Gln) rs1553603573
NM_001927.4(DES):c.1228G>A (p.Glu410Lys) rs2125168940
NM_001927.4(DES):c.1236G>T (p.Glu412Asp)
NM_001927.4(DES):c.1238A>G (p.Glu413Gly) rs1954445270
NM_001927.4(DES):c.1240A>G (p.Ser414Gly)
NM_001927.4(DES):c.1243C>G (p.Arg415Gly) rs751942358
NM_001927.4(DES):c.1243del (p.Arg415fs) rs1954445390
NM_001927.4(DES):c.1244G>A (p.Arg415Gln) rs1262288015
NM_001927.4(DES):c.1245-3T>G rs111427762
NM_001927.4(DES):c.1248C>G (p.Ile416Met)
NM_001927.4(DES):c.1255C>A (p.Pro419Thr) rs62635763
NM_001927.4(DES):c.1259T>C (p.Ile420Thr)
NM_001927.4(DES):c.1262A>G (p.Gln421Arg) rs756613339
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr) rs1954488237
NM_001927.4(DES):c.1285del (p.Arg429fs) rs1954488513
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1288G>C (p.Glu430Gln) rs1042793960
NM_001927.4(DES):c.1298C>T (p.Pro433Leu)
NM_001927.4(DES):c.1301A>G (p.Glu434Gly)
NM_001927.4(DES):c.1303C>A (p.Gln435Lys)
NM_001927.4(DES):c.1303C>G (p.Gln435Glu)
NM_001927.4(DES):c.130G>A (p.Gly44Ser) rs1064794869
NM_001927.4(DES):c.1310G>A (p.Gly437Asp) rs878854471
NM_001927.4(DES):c.1312T>G (p.Ser438Ala) rs1553603818
NM_001927.4(DES):c.131G>T (p.Gly44Val) rs1954364360
NM_001927.4(DES):c.1322A>C (p.His441Pro)
NM_001927.4(DES):c.1322A>T (p.His441Leu) rs1064796937
NM_001927.4(DES):c.1323T>G (p.His441Gln) rs751325263
NM_001927.4(DES):c.1324A>C (p.Thr442Pro) rs794728995
NM_001927.4(DES):c.1334C>T (p.Thr445Met)
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del) rs1064796352
NM_001927.4(DES):c.1348A>G (p.Thr450Ala)
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
NM_001927.4(DES):c.1349C>T (p.Thr450Ile)
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
NM_001927.4(DES):c.1354_1358del (p.Glu452fs) rs1060503171
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1363G>A (p.Asp455Asn)
NM_001927.4(DES):c.1364A>T (p.Asp455Val) rs2125172066
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1371+1G>T
NM_001927.4(DES):c.1371+2dup rs2125172078
NM_001927.4(DES):c.1372-2A>G
NM_001927.4(DES):c.1372-3C>T
NM_001927.4(DES):c.1379G>A (p.Ser460Asn)
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu) rs1060503170
NM_001927.4(DES):c.1388C>T (p.Thr463Ile)
NM_001927.4(DES):c.1390C>T (p.Gln464Ter) rs2125172262
NM_001927.4(DES):c.1408C>T (p.Leu470Phe) rs1060503172
NM_001927.4(DES):c.1409T>C (p.Leu470Pro) rs1954528633
NM_001927.4(DES):c.140G>T (p.Ser47Ile) rs2125165917
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.155G>A (p.Arg52His) rs1372689272
NM_001927.4(DES):c.157G>A (p.Val53Met) rs1393972560
NM_001927.4(DES):c.157G>T (p.Val53Leu) rs1393972560
NM_001927.4(DES):c.164A>T (p.Gln55Leu)
NM_001927.4(DES):c.166G>T (p.Val56Leu)
NM_001927.4(DES):c.176C>T (p.Thr59Met) rs773826073
NM_001927.4(DES):c.179C>T (p.Ser60Leu)
NM_001927.4(DES):c.17C>G (p.Ser6Trp) rs1214936508
NM_001927.4(DES):c.17C>T (p.Ser6Leu) rs1214936508
NM_001927.4(DES):c.182G>A (p.Gly61Asp) rs1447436485
NM_001927.4(DES):c.188C>T (p.Ala63Val)
NM_001927.4(DES):c.204_205delinsAT (p.Ser68_Leu69=)
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
NM_001927.4(DES):c.208C>T (p.Arg70Trp) rs2125166022
NM_001927.4(DES):c.211G>T (p.Ala71Ser)
NM_001927.4(DES):c.218G>T (p.Arg73Leu) rs752518966
NM_001927.4(DES):c.221T>A (p.Leu74Gln) rs1164195329
NM_001927.4(DES):c.224G>A (p.Gly75Glu)
NM_001927.4(DES):c.22A>G (p.Ser8Gly)
NM_001927.4(DES):c.230C>T (p.Thr77Ile) rs1392710887
NM_001927.4(DES):c.232C>T (p.Arg78Cys)
NM_001927.4(DES):c.235A>C (p.Thr79Pro)
NM_001927.4(DES):c.236C>T (p.Thr79Met)
NM_001927.4(DES):c.238C>T (p.Pro80Ser)
NM_001927.4(DES):c.239CCT[2] (p.Ser82del)
NM_001927.4(DES):c.244T>C (p.Ser82Pro)
NM_001927.4(DES):c.245C>T (p.Ser82Phe) rs1358038961
NM_001927.4(DES):c.253G>A (p.Ala85Thr)
NM_001927.4(DES):c.254C>T (p.Ala85Val)
NM_001927.4(DES):c.261G>T (p.Glu87Asp)
NM_001927.4(DES):c.269A>C (p.Asp90Ala) rs1954369708
NM_001927.4(DES):c.269A>T (p.Asp90Val) rs1954369708
NM_001927.4(DES):c.275C>T (p.Ser92Leu) rs1954369865
NM_001927.4(DES):c.278T>C (p.Leu93Pro)
NM_001927.4(DES):c.284A>T (p.Asp95Val) rs1954370194
NM_001927.4(DES):c.287C>G (p.Ala96Gly)
NM_001927.4(DES):c.28C>A (p.Arg10Ser) rs1196125127
NM_001927.4(DES):c.292A>T (p.Asn98Tyr)
NM_001927.4(DES):c.299A>G (p.Glu100Gly)
NM_001927.4(DES):c.310A>G (p.Thr104Ala) rs1559352310
NM_001927.4(DES):c.311C>G (p.Thr104Arg) rs980849177
NM_001927.4(DES):c.311C>T (p.Thr104Met) rs980849177
NM_001927.4(DES):c.314G>T (p.Arg105Leu) rs1406795636
NM_001927.4(DES):c.319A>G (p.Asn107Asp) rs2125166213
NM_001927.4(DES):c.31G>A (p.Val11Met)
NM_001927.4(DES):c.31G>T (p.Val11Leu)
NM_001927.4(DES):c.320A>C (p.Asn107Thr) rs1156440628
NM_001927.4(DES):c.321C>A (p.Asn107Lys)
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.323A>G (p.Glu108Gly) rs1954371679
NM_001927.4(DES):c.325A>G (p.Lys109Glu) rs1954371825
NM_001927.4(DES):c.326A>G (p.Lys109Arg) rs1488426454
NM_001927.4(DES):c.32T>C (p.Val11Ala)
NM_001927.4(DES):c.335T>G (p.Leu112Arg) rs1954372144
NM_001927.4(DES):c.341A>G (p.Glu114Gly) rs2125166251
NM_001927.4(DES):c.343C>T (p.Leu115Phe)
NM_001927.4(DES):c.344T>C (p.Leu115Pro) rs2125166259
NM_001927.4(DES):c.349G>C (p.Asp117His) rs1954372615
NM_001927.4(DES):c.352C>A (p.Arg118Ser) rs1188232371
NM_001927.4(DES):c.358G>C (p.Ala120Pro) rs794728996
NM_001927.4(DES):c.359C>A (p.Ala120Asp) rs1954373010
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
NM_001927.4(DES):c.361A>C (p.Asn121His) rs1954373113
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.368T>G (p.Ile123Ser)
NM_001927.4(DES):c.371A>C (p.Glu124Ala) rs564121737
NM_001927.4(DES):c.376G>T (p.Val126Leu) rs876657770
NM_001927.4(DES):c.379C>G (p.Arg127Gly) rs868157645
NM_001927.4(DES):c.379C>T (p.Arg127Cys)
NM_001927.4(DES):c.37T>C (p.Ser13Pro) rs1954359599
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.386T>G (p.Leu129Arg) rs1954374163
NM_001927.4(DES):c.38C>A (p.Ser13Tyr) rs62636495
NM_001927.4(DES):c.401C>A (p.Ala134Glu)
NM_001927.4(DES):c.404C>G (p.Ala135Gly) rs546741834
NM_001927.4(DES):c.406C>G (p.Leu136Val) rs1175707667
NM_001927.4(DES):c.409G>A (p.Ala137Thr)
NM_001927.4(DES):c.410C>A (p.Ala137Asp) rs775115627
NM_001927.4(DES):c.415G>A (p.Glu139Lys) rs763769862
NM_001927.4(DES):c.418G>A (p.Val140Met) rs1377068684
NM_001927.4(DES):c.418G>C (p.Val140Leu) rs1377068684
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
NM_001927.4(DES):c.427C>G (p.Leu143Val) rs1954376231
NM_001927.4(DES):c.428T>G (p.Leu143Arg)
NM_001927.4(DES):c.434G>A (p.Gly145Asp) rs1553603267
NM_001927.4(DES):c.436C>G (p.Arg146Gly)
NM_001927.4(DES):c.439G>C (p.Glu147Gln)
NM_001927.4(DES):c.43C>A (p.Arg15Ser) rs756390565
NM_001927.4(DES):c.43C>G (p.Arg15Gly)
NM_001927.4(DES):c.43C>T (p.Arg15Cys) rs756390565
NM_001927.4(DES):c.449G>A (p.Arg150Gln) rs876661344
NM_001927.4(DES):c.458A>G (p.Glu153Gly)
NM_001927.4(DES):c.459G>C (p.Glu153Asp)
NM_001927.4(DES):c.466G>A (p.Glu156Lys) rs765471098
NM_001927.4(DES):c.466G>C (p.Glu156Gln) rs765471098
NM_001927.4(DES):c.466GAG[2] (p.Glu158del)
NM_001927.4(DES):c.467A>T (p.Glu156Val) rs2125166482
NM_001927.4(DES):c.46C>A (p.Arg16Ser) rs60798368
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
NM_001927.4(DES):c.473A>T (p.Glu158Val) rs1085307571
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
NM_001927.4(DES):c.482_490dup (p.Arg163_Arg164insGlnLeuArg)
NM_001927.4(DES):c.488G>A (p.Arg163Gln) rs1457012198
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup) rs1954378812
NM_001927.4(DES):c.49A>C (p.Thr17Pro)
NM_001927.4(DES):c.500A>T (p.Glu167Val)
NM_001927.4(DES):c.501G>T (p.Glu167Asp) rs1277110592
NM_001927.4(DES):c.50C>A (p.Thr17Asn) rs1954360300
NM_001927.4(DES):c.512A>C (p.Asn171Thr)
NM_001927.4(DES):c.515A>C (p.Gln172Pro) rs2125166557
NM_001927.4(DES):c.517C>G (p.Arg173Gly)
NM_001927.4(DES):c.518G>A (p.Arg173His)
NM_001927.4(DES):c.520G>A (p.Ala174Thr)
NM_001927.4(DES):c.529G>A (p.Asp177Asn) rs1057524813
NM_001927.4(DES):c.536A>T (p.Glu179Val)
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del) rs1954382461
NM_001927.4(DES):c.544_558del (p.Asn182_Asp186del)
NM_001927.4(DES):c.553G>A (p.Asp185Asn)
NM_001927.4(DES):c.554A>T (p.Asp185Val)
NM_001927.4(DES):c.556G>A (p.Asp186Asn)
NM_001927.4(DES):c.556G>C (p.Asp186His)
NM_001927.4(DES):c.556G>T (p.Asp186Tyr) rs878854473
NM_001927.4(DES):c.558C>G (p.Asp186Glu) rs1575013561
NM_001927.4(DES):c.55G>C (p.Gly19Arg) rs936853024
NM_001927.4(DES):c.560T>C (p.Leu187Pro) rs1248833348
NM_001927.4(DES):c.564G>T (p.Gln188His)
NM_001927.4(DES):c.571A>G (p.Lys191Glu) rs1483093429
NM_001927.4(DES):c.575C>T (p.Ala192Val) rs889191100
NM_001927.4(DES):c.586GAG[1] (p.Glu197del) rs1954405702
NM_001927.4(DES):c.59G>A (p.Gly20Glu) rs2125165738
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.607G>A (p.Glu203Lys) rs2125167376
NM_001927.4(DES):c.610G>A (p.Ala204Thr) rs1575014034
NM_001927.4(DES):c.610G>T (p.Ala204Ser) rs1575014034
NM_001927.4(DES):c.618C>A (p.Asn206Lys)
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.623T>G (p.Leu208Trp)
NM_001927.4(DES):c.629C>T (p.Ala210Val) rs1060503169
NM_001927.4(DES):c.62C>A (p.Ala21Asp) rs755107287
NM_001927.4(DES):c.639+4A>G
NM_001927.4(DES):c.639+5G>A
NM_001927.4(DES):c.640-2A>G rs267607492
NM_001927.4(DES):c.640-3C>T
NM_001927.4(DES):c.643G>C (p.Val215Leu)
NM_001927.4(DES):c.650C>T (p.Ala217Val)
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His) rs1954411290
NM_001927.4(DES):c.680G>T (p.Arg227Leu) rs141486420
NM_001927.4(DES):c.683G>T (p.Arg228Ile)
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
NM_001927.4(DES):c.68G>C (p.Gly23Ala)
NM_001927.4(DES):c.694C>G (p.Leu232Val)
NM_001927.4(DES):c.700G>A (p.Glu234Lys) rs774739275
NM_001927.4(DES):c.702G>A (p.Glu234=)
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001927.4(DES):c.709G>T (p.Ala237Ser) rs397516697
NM_001927.4(DES):c.715C>T (p.Leu239Phe)
NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)
NM_001927.4(DES):c.718A>G (p.Lys240Glu) rs1954413354
NM_001927.4(DES):c.722_724del (p.Lys241_Val242delinsMet)
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.734A>G (p.Glu245Gly) rs1575014243
NM_001927.4(DES):c.735+3A>T rs267607483
NM_001927.4(DES):c.735+6C>A
NM_001927.4(DES):c.735+6C>T rs1302528006
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.735_735+3dup rs1954413969
NM_001927.4(DES):c.736-3C>A
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
NM_001927.4(DES):c.738G>C (p.Glu246Asp) rs1954417703
NM_001927.4(DES):c.73C>G (p.Pro25Ala)
NM_001927.4(DES):c.742C>A (p.Arg248Ser)
NM_001927.4(DES):c.742C>T (p.Arg248Cys) rs772117708
NM_001927.4(DES):c.743G>A (p.Arg248His) rs375906682
NM_001927.4(DES):c.743G>T (p.Arg248Leu)
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup) rs1287075970
NM_001927.4(DES):c.74_75inv (p.Pro25Leu)
NM_001927.4(DES):c.760C>T (p.Leu254Phe)
NM_001927.4(DES):c.761T>G (p.Leu254Arg) rs1559352926
NM_001927.4(DES):c.767A>G (p.Glu256Gly) rs1553603440
NM_001927.4(DES):c.770A>G (p.Gln257Arg) rs1954418582
NM_001927.4(DES):c.775G>A (p.Val259Ile)
NM_001927.4(DES):c.77T>A (p.Leu26His) rs1064796529
NM_001927.4(DES):c.790G>A (p.Asp264Asn)
NM_001927.4(DES):c.793A>G (p.Met265Val)
NM_001927.4(DES):c.796T>C (p.Ser266Pro) rs1342331264
NM_001927.4(DES):c.79G>C (p.Gly27Arg) rs727504877
NM_001927.4(DES):c.802C>G (p.Pro268Ala) rs1434613160
NM_001927.4(DES):c.80G>A (p.Gly27Asp) rs1575012966
NM_001927.4(DES):c.811A>T (p.Thr271Ser) rs2125167886
NM_001927.4(DES):c.817G>T (p.Ala273Ser) rs770258461
NM_001927.4(DES):c.823A>C (p.Arg275=)
NM_001927.4(DES):c.823A>G (p.Arg275Gly) rs994389035
NM_001927.4(DES):c.825G>A (p.Arg275=)
NM_001927.4(DES):c.826G>A (p.Asp276Asn) rs1436186019
NM_001927.4(DES):c.829_831del (p.Ile277del)
NM_001927.4(DES):c.830T>A (p.Ile277Asn) rs1459036752
NM_001927.4(DES):c.832C>T (p.Arg278Trp) rs794728985
NM_001927.4(DES):c.833G>A (p.Arg278Gln)
NM_001927.4(DES):c.833G>C (p.Arg278Pro) rs761475402
NM_001927.4(DES):c.839A>G (p.Gln280Arg) rs750160975
NM_001927.4(DES):c.840G>C (p.Gln280His) rs1954420895
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
NM_001927.4(DES):c.854C>G (p.Ala285Gly)
NM_001927.4(DES):c.869C>A (p.Ser290Tyr) rs981782522
NM_001927.4(DES):c.869C>G (p.Ser290Cys)
NM_001927.4(DES):c.86C>G (p.Pro29Arg)
NM_001927.4(DES):c.86C>T (p.Pro29Leu) rs1378987625
NM_001927.4(DES):c.871G>A (p.Glu291Lys)
NM_001927.4(DES):c.886T>C (p.Tyr296His) rs2125167990
NM_001927.4(DES):c.897+13_897+14delinsCT
NM_001927.4(DES):c.897+6T>G rs1954422546
NM_001927.4(DES):c.898G>A (p.Val300Met) rs2125168133
NM_001927.4(DES):c.8A>G (p.Gln3Arg) rs1954358286
NM_001927.4(DES):c.904G>C (p.Asp302His)
NM_001927.4(DES):c.906C>A (p.Asp302Glu) rs1224203630
NM_001927.4(DES):c.919G>T (p.Ala307Ser)
NM_001927.4(DES):c.921CAA[1] (p.Asn308del)
NM_001927.4(DES):c.931A>G (p.Asn311Asp)
NM_001927.4(DES):c.936C>A (p.Asp312Glu)
NM_001927.4(DES):c.93T>G (p.Ser31Arg) rs2017800
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001927.4(DES):c.944G>T (p.Arg315Leu)
NM_001927.4(DES):c.961A>G (p.Met321Val) rs1954427673
NM_001927.4(DES):c.962T>A (p.Met321Lys)
NM_001927.4(DES):c.962T>C (p.Met321Thr) rs760197212
NM_001927.4(DES):c.977A>G (p.His326Arg) rs2125168243
NM_001927.4(DES):c.986A>C (p.Gln329Pro) rs1060503168
NM_001927.4(DES):c.986A>G (p.Gln329Arg)
NM_001927.4(DES):c.991T>A (p.Tyr331Asn) rs1064795298
NM_001927.4(DES):c.992A>C (p.Tyr331Ser) rs1954428602
NM_001927.4(DES):c.995C>A (p.Thr332Asn)
NM_001927.4(DES):c.995C>T (p.Thr332Ile) rs368453327
NM_001927.4(DES):c.997T>C (p.Cys333Arg)
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667
NM_002469.3(MYF6):c.104C>T (p.Pro35Leu) rs2121343603
NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)
NM_002469.3(MYF6):c.176A>T (p.Glu59Val) rs1332444958
NM_002469.3(MYF6):c.183T>G (p.His61Gln) rs776368255
NM_002469.3(MYF6):c.273dup (p.Thr92fs) rs768710318
NM_002469.3(MYF6):c.280C>T (p.Arg94Trp) rs1188507871
NM_002469.3(MYF6):c.352C>G (p.Arg118Gly) rs34563783
NM_002469.3(MYF6):c.459G>C (p.Gln153His) rs1868399214
NM_002469.3(MYF6):c.511C>G (p.Gln171Glu) rs1013493242
NM_002469.3(MYF6):c.587G>A (p.Gly196Glu) rs750182640
NM_002469.3(MYF6):c.691C>G (p.Arg231Gly) rs1408693660
NM_003283.6(TNNT1):c.115C>A (p.Arg39Ser)
NM_003283.6(TNNT1):c.116G>A (p.Arg39His) rs1599891643
NM_003283.6(TNNT1):c.11C>T (p.Thr4Ile) rs1568849957
NM_003283.6(TNNT1):c.129-5C>G rs997219637
NM_003283.6(TNNT1):c.139G>A (p.Val47Met) rs1599884701
NM_003283.6(TNNT1):c.146C>G (p.Pro49Arg)
NM_003283.6(TNNT1):c.157C>T (p.Pro53Ser) rs755269853
NM_003283.6(TNNT1):c.16G>A (p.Glu6Lys) rs1599896616
NM_003283.6(TNNT1):c.192T>G (p.Asp64Glu)
NM_003283.6(TNNT1):c.193-3C>T
NM_003283.6(TNNT1):c.200A>C (p.His67Pro) rs1555858107
NM_003283.6(TNNT1):c.200A>G (p.His67Arg) rs1555858107
NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn) rs2085449480
NM_003283.6(TNNT1):c.263A>G (p.Gln88Arg) rs2147254988
NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys) rs1449981150
NM_003283.6(TNNT1):c.301G>A (p.Glu101Lys)
NM_003283.6(TNNT1):c.304C>A (p.Arg102Ser) rs774855200
NM_003283.6(TNNT1):c.309+6C>T rs932070035
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val) rs2085441049
NM_003283.6(TNNT1):c.319C>T (p.Arg107Trp) rs755856894
NM_003283.6(TNNT1):c.31_32+1del rs944152647
NM_003283.6(TNNT1):c.32+4A>T rs780644788
NM_003283.6(TNNT1):c.320G>A (p.Arg107Gln) rs2147254128
NM_003283.6(TNNT1):c.33-7T>G rs771002524
NM_003283.6(TNNT1):c.370C>T (p.Arg124Cys) rs2085439112
NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro)
NM_003283.6(TNNT1):c.387+5G>A rs2085438435
NM_003283.6(TNNT1):c.388-3C>G
NM_003283.6(TNNT1):c.401G>A (p.Arg134Lys)
NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln)
NM_003283.6(TNNT1):c.46+6T>C
NM_003283.6(TNNT1):c.460C>G (p.Leu154Val) rs2085384859
NM_003283.6(TNNT1):c.46G>A (p.Glu16Lys) rs533504444
NM_003283.6(TNNT1):c.514C>T (p.Arg172Cys)
NM_003283.6(TNNT1):c.523C>G (p.Arg175Gly) rs780372739
NM_003283.6(TNNT1):c.536G>A (p.Arg179Gln) rs2147244813
NM_003283.6(TNNT1):c.554T>C (p.Ile185Thr) rs970200564
NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg) rs2085359836
NM_003283.6(TNNT1):c.573G>T (p.Lys191Asn)
NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu) rs2147244624
NM_003283.6(TNNT1):c.584T>C (p.Ile195Thr)
NM_003283.6(TNNT1):c.585T>G (p.Ile195Met) rs2085359369
NM_003283.6(TNNT1):c.589T>G (p.Tyr197Asp)
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp) rs1041234929
NM_003283.6(TNNT1):c.610C>T (p.Arg204Trp)
NM_003283.6(TNNT1):c.616C>G (p.Arg206Gly)
NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro)
NM_003283.6(TNNT1):c.641A>G (p.Gln214Arg) rs2147236699
NM_003283.6(TNNT1):c.647C>G (p.Ser216Cys) rs1414740144
NM_003283.6(TNNT1):c.653C>G (p.Pro218Arg) rs2085300916
NM_003283.6(TNNT1):c.658A>T (p.Arg220Trp) rs113157106
NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn) rs920784477
NM_003283.6(TNNT1):c.715G>A (p.Asp239Asn)
NM_003283.6(TNNT1):c.734A>T (p.Lys245Ile)
NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys)
NM_003283.6(TNNT1):c.764A>G (p.Tyr255Cys) rs1599869703
NM_003283.6(TNNT1):c.792-6C>G
NM_003283.6(TNNT1):c.799G>C (p.Gly267Arg)
NM_003283.6(TNNT1):c.81A>T (p.Glu27Asp) rs1267757904
NM_003283.6(TNNT1):c.89A>T (p.Glu30Val) rs2147267125
NM_003283.6(TNNT1):c.94G>T (p.Val32Leu) rs779711295
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr) rs1560994846
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn) rs1735559685
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr) rs1553999038
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala) rs1579402533
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr) rs2126577878
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val) rs1560994866
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys) rs1553999043
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile) rs1579402602
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala) rs1579402616
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu) rs1735562520
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del) rs2126578027
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu) rs2126578052
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu) rs1218116319
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala) rs1735563330
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr) rs1735563548
NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln) rs1483236652
NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys) rs1041948
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu) rs1735564312
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
NM_004168.4(SDHA):c.1039A>G (p.Met347Val) rs1245387180
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr) rs1553999054
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala) rs371484111
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser) rs371484111
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu) rs199844384
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys) rs1328911130
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala) rs2126578405
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg) rs746611221
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg) rs746611221
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu) rs2126578424
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
NM_004168.4(SDHA):c.1064+3G>A rs1553999078
NM_004168.4(SDHA):c.1064+3G>C
NM_004168.4(SDHA):c.1064+4C>A rs768276870
NM_004168.4(SDHA):c.1064+4C>G
NM_004168.4(SDHA):c.1064+5G>C rs200021115
NM_004168.4(SDHA):c.1064+6T>C
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile) rs1735568346
NM_004168.4(SDHA):c.1065-11T>C
NM_004168.4(SDHA):c.1065-13T>C
NM_004168.4(SDHA):c.1065-19T>A
NM_004168.4(SDHA):c.1065-8C>G
NM_004168.4(SDHA):c.1065A>G (p.Arg355=) rs2126584114
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg) rs1735685410
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala) rs750500173
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser) rs750500173
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr) rs1560996433
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer) rs1735687291
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr) rs2126584224
NM_004168.4(SDHA):c.1087C>G (p.His363Asp) rs1553999417
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr) rs1553999417
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
NM_004168.4(SDHA):c.1089C>A (p.His363Gln) rs368488126
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu) rs372738835
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
NM_004168.4(SDHA):c.10G>A (p.Val4Ile) rs778069799
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro) rs2126584397
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del) rs1735689664
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr) rs2126584410
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
NM_004168.4(SDHA):c.1107C>A (p.His369Gln) rs1268877544
NM_004168.4(SDHA):c.1108C>A (p.His370Asn) rs1060503704
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr) rs1060503704
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val) rs1735690368
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu) rs141493530
NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln)
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro) rs1735692451
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn) rs1553997174
NM_004168.4(SDHA):c.112G>C (p.Asp38His) rs1553997174
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp) rs1553999443
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val) rs1553999443
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu) rs770719847
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met) rs1735694280
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala) rs1735694889
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup) rs2126584776
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp) rs373067620
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val) rs2126584806
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala) rs1553999461
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr) rs2126584893
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu) rs1579406553
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr) rs1419241279
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu) rs35277230
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro) rs376597185
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser) rs376597185
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
NM_004168.4(SDHA):c.1177G>A (p.Val393Met) rs372989971
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu) rs372989971
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) rs748683825
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg) rs745798689
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn) rs1035794713
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser) rs2126585242
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn) rs876660886
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser) rs1734833856
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
NM_004168.4(SDHA):c.11T>G (p.Val4Gly) rs1579369675
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser) rs1560996818
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu) rs2126585344
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly) rs2126585353
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys) rs1579379803
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys) rs1579379803
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn) rs1553999491
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
NM_004168.4(SDHA):c.1215C>A (p.Thr405=) rs762888704
NM_004168.4(SDHA):c.1216G>A (p.Val406Met) rs1258201485
NM_004168.4(SDHA):c.1220A>T (p.His407Leu) rs374087393
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
NM_004168.4(SDHA):c.1228A>G (p.Met410Val) rs876658852
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr) rs1553999505
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile) rs1735707028
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser) rs2126585602
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys) rs768055345
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala) rs1735708028
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser) rs1735708028
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del) rs2126585682
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala) rs2126585699
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile) rs1409603646
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg) rs1735709331
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg) rs1735709829
NM_004168.4(SDHA):c.1260+3G>T rs2126585827
NM_004168.4(SDHA):c.1260+6G>A rs2126585843
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)
NM_004168.4(SDHA):c.1261-9T>A rs1553999698
NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)
NM_004168.4(SDHA):c.1271A>G (p.His424Arg) rs1579409312
NM_004168.4(SDHA):c.1272C>G (p.His424Gln) rs754805626
NM_004168.4(SDHA):c.1273G>A (p.Val425Met) rs201822097
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu) rs201822097
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser) rs1060503725
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val) rs1735782215
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
NM_004168.4(SDHA):c.1284G>C (p.Gln428His) rs1735782951
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn) rs988419580
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val) rs1579409384
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr) rs776188923
NM_004168.4(SDHA):c.1294G>A (p.Val432Met) rs2126589526
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala) rs1490844767
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser) rs1560998056
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg) rs529198317
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln) rs1579409500
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro) rs1579409500
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr) rs1553999731
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser) rs1424809160
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe) rs1424809160
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg) rs1579409601
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu) rs374086655
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup) rs768469627
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys) rs1735789566
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly) rs1735789704
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val) rs1735789704
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr) rs1734835164
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe) rs1734835164
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser) rs754893758
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg) rs2126589848
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe) rs1735790227
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr) rs2126589966
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro) rs140736646
NM_004168.4(SDHA):c.1340A>C (p.His447Pro) rs779151375
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser) rs1064795863
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr) rs1485193902
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly) rs201139275
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser) rs1579409723
NM_004168.4(SDHA):c.134C>T (p.Ala45Val) rs1553997190
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser) rs1553999752
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe) rs1064796477
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro) rs1735794275
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr) rs1057517550
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser) rs1057517550
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu) rs1553999766
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
NM_004168.4(SDHA):c.1370T>A (p.Leu457His) rs1579409887
NM_004168.4(SDHA):c.1374G>A (p.Leu458=) rs1735797053
NM_004168.4(SDHA):c.1375G>C (p.Asp459His) rs1735797208
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly) rs2126590273
NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser) rs2126590387
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser) rs111387770
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly) rs770866830
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp) rs770866830
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val) rs1057524636
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg) rs1735799664
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn) rs1241820374
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val) rs1735800203
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met) rs34779890
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln) rs2126590644
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala) rs1560998495
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro) rs2126590674
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser) rs748567636
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys) rs2126590736
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser) rs377415114
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser) rs377415114
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
NM_004168.4(SDHA):c.1430C>A (p.Pro477His) rs146990772
NM_004168.4(SDHA):c.1432+3A>G
NM_004168.4(SDHA):c.1432+4A>G rs1553999798
NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg)
NM_004168.4(SDHA):c.1433-3T>C rs1736060812
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu) rs1579417444
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly) rs1736061170
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg) rs759661610
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu) rs759661610
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu) rs2126602519
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu) rs1736062209
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser) rs1060503706
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu) rs1579417528
NM_004168.4(SDHA):c.145G>C (p.Asp49His) rs1734836072
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser) rs369100772
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val) rs1421325038
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg) rs2126602614
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys) rs778207102
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly) rs754324916
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe) rs1579417619
NM_004168.4(SDHA):c.1480A>G (p.Met494Val) rs1579417628
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr) rs1561001630
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile) rs1305001616
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala) rs1560985310
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu) rs1579417658
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr) rs369321221
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys) rs369321221
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln) rs779027774
NM_004168.4(SDHA):c.150+2dup rs1560985349
NM_004168.4(SDHA):c.150+4A>G rs1734837029
NM_004168.4(SDHA):c.150+6T>G rs1060503699
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys) rs757932443
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn) rs2126602837
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala) rs1736066055
NM_004168.4(SDHA):c.151-15A>G
NM_004168.4(SDHA):c.151-3C>T
NM_004168.4(SDHA):c.151-9C>G rs1734881724
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg) rs1579417710
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn) rs1060503722
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val) rs1561001683
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr) rs2126602878
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala) rs1060503718
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser) rs1060503718
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro) rs1579417769
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) rs397514541
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val) rs768257880
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln) rs192818312
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn) rs587781729
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr) rs587781729
NM_004168.4(SDHA):c.1543A>G (p.Met515Val) rs1736069297
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile) rs1736069479
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg) rs981171929
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) rs786205210
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup) rs1736070159
NM_004168.4(SDHA):c.1551+3A>G rs767596385
NM_004168.4(SDHA):c.1551+4A>T rs928294715
NM_004168.4(SDHA):c.1551+5G>C rs2126603143
NM_004168.4(SDHA):c.1551+6A>G rs369507726
NM_004168.4(SDHA):c.1552-10T>G rs1736784473
NM_004168.4(SDHA):c.1552-173_1585dup rs1736773597
NM_004168.4(SDHA):c.1552-3_1552-2del rs2126631914
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro) rs2126631929
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu) rs2126631937
NM_004168.4(SDHA):c.1555A>G (p.Met519Val) rs2126631942
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
NM_004168.4(SDHA):c.1564_1566del (p.His522del) rs1325342549
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser) rs1554001820
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp) rs1736785630
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly) rs1736785630
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val) rs1736785630
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu) rs2126632042
NM_004168.4(SDHA):c.1582G>A (p.Val528Met) rs1554001827
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala) rs2126632088
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu) rs371056571
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe) rs1449742263
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro) rs1395387473
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu) rs1395387473
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del) rs1736788779
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala) rs1736789524
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr) rs1736789855
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg) rs1736789994
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser) rs749219128
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu) rs1736791200
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro) rs1233761838
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu) rs2126632293
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn) rs1736792773
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr) rs1736792773
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg) rs1561010407
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val) rs1554001867
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro) rs1579438155
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln) rs1400219619
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys) rs2126542365
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala) rs1200051286
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val) rs1736795269
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala) rs1060503723
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu) rs376391115
NM_004168.4(SDHA):c.1662G>C (p.Arg554=) rs1579438241
NM_004168.4(SDHA):c.1662G>T (p.Arg554=) rs1579438241
NM_004168.4(SDHA):c.1663+5G>C rs1736797211
NM_004168.4(SDHA):c.1663+6C>G rs1736797323
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg) rs1392860800
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg) rs1392860800
NM_004168.4(SDHA):c.1664-3C>T
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys) rs1579438769
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr) rs1579438769
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile) rs2126633148
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr) rs2126542374
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys) rs1561010726
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala) rs1269114291
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met) rs1561010740
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val) rs1561010740
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro) rs1736814018
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu) rs1736814459
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly) rs763529675
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp) rs368388954
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile) rs757176672
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg) rs1579438883
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys) rs1736816371
NM_004168.4(SDHA):c.169G>A (p.Val57Ile) rs1060503724
NM_004168.4(SDHA):c.169G>T (p.Val57Leu) rs1060503724
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg) rs1352756438
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val) rs1554001912
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr) rs1561010778
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
NM_004168.4(SDHA):c.170T>A (p.Val57Glu) rs1734883606
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val) rs1377424433
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro) rs1736817446
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr) rs1554001925
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg) rs1554001925
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr) rs2126633379
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr) rs1301370839
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn) rs1349207461
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile) rs1349207461
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val) rs1042052
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr) rs1323205068
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His) rs1042056
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
NM_004168.4(SDHA):c.173T>G (p.Val58Gly) rs2126542426
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro) rs1736821952
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu) rs1736823607
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys) rs1554001954
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu) rs1579439198
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser) rs1736825032
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp) rs2126633698
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly) rs775449731
NM_004168.4(SDHA):c.1774C>A (p.His592Asn) rs1579439269
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr) rs1579439269
NM_004168.4(SDHA):c.1775A>G (p.His592Arg) rs1554001966
NM_004168.4(SDHA):c.1776T>G (p.His592Gln) rs1126538
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr) rs1736827311
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp) rs1736827451
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val) rs1736827451
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
NM_004168.4(SDHA):c.1786G>C (p.Asp596His) rs371304688
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr) rs371304688
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His) rs1060503721
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys) rs1736828708
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe) rs1736828708
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu) rs2126633857
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg) rs1579439363
NM_004168.4(SDHA):c.1794+3G>A rs375883981
NM_004168.4(SDHA):c.1794+4G>A
NM_004168.4(SDHA):c.1794+4G>T
NM_004168.4(SDHA):c.1794+5G>A
NM_004168.4(SDHA):c.1794+5G>C rs1205244370
NM_004168.4(SDHA):c.1794G>A (p.Lys598=) rs1554001975
NM_004168.4(SDHA):c.1795-6C>A rs756792828
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala) rs187964306
NM_004168.4(SDHA):c.17G>T (p.Gly6Val) rs187964306
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn) rs1737043619
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly) rs1737044250
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys) rs1737044552
NM_004168.4(SDHA):c.1813G>C (p.Asp605His) rs771593214
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn) rs17400614
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser) rs1737046014
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg) rs2126641323
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val) rs1554002446
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met) rs1209697697
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg) rs1737046877
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg) rs1737047578
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu) rs1057523336
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del) rs1737048556
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu) rs1453752069
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser) rs1199988395
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu) rs1485754812
NM_004168.4(SDHA):c.1861C>G (p.His621Asp) rs1554002475
NM_004168.4(SDHA):c.1862A>G (p.His621Arg) rs1737050290
NM_004168.4(SDHA):c.1863C>G (p.His621Gln) rs1554002478
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) rs1579445179
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg) rs1579445190
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr) rs1554002483
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg) rs1737051659
NM_004168.4(SDHA):c.1880dup (p.Ser628fs) rs1579445237
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn) rs1579445293
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser) rs6960
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys) rs6960
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly) rs1553997327
NM_004168.4(SDHA):c.188A>T (p.Asp63Val) rs1553997327
NM_004168.4(SDHA):c.1890G>A (p.Val630=) rs1405784467
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn) rs776500078
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu) rs1364764796
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile) rs369639811
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe) rs369639811
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser) rs2126641674
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala) rs1017441235
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser) rs1017441235
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg) rs1737055056
NM_004168.4(SDHA):c.1908+2T>C rs1737056056
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn) rs1244151760
NM_004168.4(SDHA):c.1909-3A>G
NM_004168.4(SDHA):c.1909-5T>G rs1197849830
NM_004168.4(SDHA):c.1909-8_1909-4del rs1737179400
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile) rs769599373
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr) rs1734884655
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala) rs1737179959
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser) rs370133236
NM_004168.4(SDHA):c.1913del (p.Thr638fs) rs1554002857
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr) rs1579448568
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser) rs1579448568
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
NM_004168.4(SDHA):c.193G>T (p.Val65Leu)
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg) rs1737186768
NM_004168.4(SDHA):c.1943del (p.Thr648fs) rs2126645882
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val) rs1737187966
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp) rs899598021
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln) rs375396913
NM_004168.4(SDHA):c.1951del (p.Glu651fs) rs1561016316
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly) rs1737189246
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp) rs1579448683
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr) rs1737189728
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val) rs1554002888
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala) rs1737190360
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val) rs1737190360
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser) rs1554002895
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs) rs2126645995
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr) rs2126646066
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val) rs191412461
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys) rs1737195067
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe) rs1060503719
NM_004168.4(SDHA):c.1990T>C (p.Tyr664His)
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
NM_004168.4(SDHA):c.19C>G (p.Leu7Val) rs760964443
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
NM_004168.4(SDHA):c.204C>T (p.Gly68=) rs1055082816
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala) rs2126542624
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro) rs1734500083
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg) rs1734887299
NM_004168.4(SDHA):c.215C>T (p.Ala72Val) rs1204881025
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
NM_004168.4(SDHA):c.218G>T (p.Gly73Val) rs1553997347
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser) rs763220651
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
NM_004168.4(SDHA):c.227C>T (p.Ala76Val) rs1734888838
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro) rs768328967
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp) rs759568419
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu) rs878854631
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe) rs1553997357
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg) rs2126542993
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu) rs199615452
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp) rs200519133
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser) rs2126543056
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly) rs776218604
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr) rs2126543077
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly) rs1734891785
NM_004168.4(SDHA):c.263C>T (p.Ala88Val) rs1734891785
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr) rs138016874
NM_004168.4(SDHA):c.268G>A (p.Val90Ile) rs2126543120
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln) rs761508577
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu) rs761508577
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln) rs1734892884
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg) rs778267118
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn) rs375298039
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro) rs1326611328
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu) rs1579381851
NM_004168.4(SDHA):c.296A>G (p.His99Arg) rs1579381882
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro) rs2126522536
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile) rs1734896344
NM_004168.4(SDHA):c.305C>T (p.Ala102Val) rs1240528592
NM_004168.4(SDHA):c.307G>A (p.Ala103Thr) rs1553997389
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
NM_004168.4(SDHA):c.312+4A>C
NM_004168.4(SDHA):c.312+5G>C
NM_004168.4(SDHA):c.312G>A (p.Gln104=) rs2126543437
NM_004168.4(SDHA):c.313-11G>A rs1734951831
NM_004168.4(SDHA):c.313-12del
NM_004168.4(SDHA):c.313-13T>C
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg) rs2126546583
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val) rs1734953252
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg) rs1579383936
NM_004168.4(SDHA):c.319A>G (p.Ile107Val) rs1060503720
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn) rs1734953616
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser) rs1734953616
NM_004168.4(SDHA):c.321C>G (p.Ile107Met) rs1734953765
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln) rs1139422
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg) rs751114575
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp) rs1450249875
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr) rs1734955271
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser) rs1734955271
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile) rs1734955271
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del) rs1734955897
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp) rs368286780
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn) rs2126546832
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly) rs1734501874
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly) rs1579384062
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser) rs987288514
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg) rs1734957208
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys) rs2126546923
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
NM_004168.4(SDHA):c.365A>G (p.His122Arg) rs1579384131
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu) rs1579384137
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg) rs1734502045
NM_004168.4(SDHA):c.370T>C (p.Tyr124His) rs2126546996
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
NM_004168.4(SDHA):c.373G>C (p.Asp125His) rs780654623
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp) rs2126547166
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys) rs1553997625
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly) rs2126547239
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys) rs1734960239
NM_004168.4(SDHA):c.397C>G (p.Leu133Val) rs2126547261
NM_004168.4(SDHA):c.397C>T (p.Leu133=) rs2126547261
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) rs1734960553
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu) rs1365359024
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu) rs876660259
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr) rs1734961262
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly) rs1192077362
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp) rs1192077362
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu) rs1444399160
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu) rs1444399160
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
NM_004168.4(SDHA):c.413C>T (p.Ala138Val) rs1342456775
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
NM_004168.4(SDHA):c.419A>G (p.His140Arg) rs759266253
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
NM_004168.4(SDHA):c.421T>C (p.Tyr141His) rs1553997643
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp) rs1553997643
NM_004168.4(SDHA):c.424A>C (p.Met142Leu) rs776848209
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn) rs2126547518
NM_004168.4(SDHA):c.428C>T (p.Thr143Met) rs200675907
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
NM_004168.4(SDHA):c.437C>T (p.Ala146Val) rs1060503714
NM_004168.4(SDHA):c.440C>A (p.Pro147His) rs763191656
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser) rs375576259
NM_004168.4(SDHA):c.446C>T (p.Ala149Val) rs1060503709
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro) rs1060503707
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln) rs778737664
NM_004168.4(SDHA):c.456+11G>A
NM_004168.4(SDHA):c.456+12G>C
NM_004168.4(SDHA):c.456+3G>T rs1362754028
NM_004168.4(SDHA):c.456+3_456+4delinsCT rs1734966566
NM_004168.4(SDHA):c.456+4A>T
NM_004168.4(SDHA):c.456+4del
NM_004168.4(SDHA):c.456+6G>C
NM_004168.4(SDHA):c.456+7G>A
NM_004168.4(SDHA):c.456G>A (p.Glu152=) rs1579384590
NM_004168.4(SDHA):c.457-3C>T
NM_004168.4(SDHA):c.457-4A>T
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys) rs1560987595
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe) rs774589410
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser) rs1734987233
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
NM_004168.4(SDHA):c.472A>G (p.Met158Val) rs2126549328
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn) rs2126549411
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly) rs1579385526
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr) rs1579385540
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn) rs375067326
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly) rs1734989377
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg) rs1060503712
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
NM_004168.4(SDHA):c.498G>T (p.Gly166=) rs1579385582
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro) rs758327622
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala) rs758327622
NM_004168.4(SDHA):c.502A>G (p.Ile168Val) rs1734989945
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr) rs1553997748
NM_004168.4(SDHA):c.505T>C (p.Tyr169His) rs1553997754
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys) rs1579385645
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu) rs2126549625
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
NM_004168.4(SDHA):c.510G>C (p.Gln170His) rs1579385651
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr) rs1734991441
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
NM_004168.4(SDHA):c.515C>T (p.Ala172Val) rs1734991593
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg) rs753004001
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg) rs753004001
NM_004168.4(SDHA):c.528G>C (p.Gln176His) rs769454045
NM_004168.4(SDHA):c.52C>G (p.Leu18Val) rs1553996372
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn) rs1553997783
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp) rs1734993975
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu) rs1579385819
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala) rs1579385819
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu) rs775827529
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
NM_004168.4(SDHA):c.557C>T (p.Ala186Val) rs2126550013
NM_004168.4(SDHA):c.559C>T (p.His187Tyr) rs1579385898
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr) rs1560980986
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg) rs1734996495
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser) rs908267345
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly) rs2126522773
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg) rs2126550176
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser) rs1393298155
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly) rs1734997662
NM_004168.4(SDHA):c.578C>T (p.Ala193Val) rs1734997662
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly) rs1337777456
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) rs1337777456
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile) rs1560987863
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser) rs1560987881
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg) rs1560987881
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu) rs1734504263
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp) rs1579386052
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile) rs764307917
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser) rs150646390
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser) rs1735001122
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile) rs1735001122
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly) rs6555055
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp) rs6555055
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln) rs2126550631
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr) rs1553996375
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys) rs780411478
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr) rs780411478
NM_004168.4(SDHA):c.621+3A>G
NM_004168.4(SDHA):c.621G>A (p.Arg207=) rs2126550683
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro) rs1579390858
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu) rs2126522821
NM_004168.4(SDHA):c.62C>T (p.Ala21Val) rs2126522821
NM_004168.4(SDHA):c.63+3G>A
NM_004168.4(SDHA):c.63+3del rs1734505446
NM_004168.4(SDHA):c.63+4A>G
NM_004168.4(SDHA):c.63+7C>A
NM_004168.4(SDHA):c.630A>G (p.Arg210=) rs1579390913
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe) rs1235961098
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly) rs750531440
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn) rs766421069
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile) rs766421069
NM_004168.4(SDHA):c.63G>A (p.Ala21=) rs587781942
NM_004168.4(SDHA):c.64-16T>G
NM_004168.4(SDHA):c.64-7T>G rs1579379588
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu) rs1735162987
NM_004168.4(SDHA):c.649G>C (p.Val217Leu) rs1735163272
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg) rs2126539375
NM_004168.4(SDHA):c.653A>T (p.Glu218Val) rs1735163544
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly) rs1735163984
NM_004168.4(SDHA):c.664T>G (p.Leu222Val) rs1553998191
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
NM_004168.4(SDHA):c.667G>C (p.Asp223His) rs1579391108
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr) rs1579391108
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala) rs2126558436
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro) rs2126558482
NM_004168.4(SDHA):c.676A>T (p.Met226Leu) rs1579391135
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
NM_004168.4(SDHA):c.677T>C (p.Met226Thr) rs1735165932
NM_004168.4(SDHA):c.678G>A (p.Met226Ile) rs745884899
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr) rs2126558556
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser) rs2126558564
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln) rs1436777353
NM_004168.4(SDHA):c.695G>A (p.Arg232His) rs1060503708
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser) rs2126558729
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp) rs878854636
NM_004168.4(SDHA):c.698G>T (p.Gly233Val) rs878854636
NM_004168.4(SDHA):c.700G>A (p.Val234Ile) rs2126558764
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala) rs1579379632
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly) rs1579391373
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser) rs1168458733
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe) rs1168458733
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu) rs760106352
NM_004168.4(SDHA):c.715A>G (p.Ile239Val) rs760106352
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr) rs1466069757
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys) rs1041946
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
NM_004168.4(SDHA):c.720_722del (p.Glu240del) rs1560990000
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys) rs756966025
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe) rs756966025
NM_004168.4(SDHA):c.733C>G (p.His245Asp) rs1060503716
NM_004168.4(SDHA):c.734A>G (p.His245Arg) rs1579391515
NM_004168.4(SDHA):c.734A>T (p.His245Leu) rs1579391515
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys) rs1579391530
NM_004168.4(SDHA):c.737G>A (p.Arg246His) rs745309710
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu) rs745309710
NM_004168.4(SDHA):c.741A>G (p.Ile247Met) rs1735177782
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu) rs1735177925
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg) rs1060503700
NM_004168.4(SDHA):c.74T>C (p.Val25Ala) rs2126539437
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
NM_004168.4(SDHA):c.757G>A (p.Val253Ile) rs1126412
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr) rs1735179887
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser) rs1409070000
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile) rs2126559328
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
NM_004168.4(SDHA):c.770+3A>G
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu) rs749566947
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala) rs749566947
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile) rs1579397115
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys) rs2126567907
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys) rs2126567940
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys) rs2126567967
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg) rs1579397179
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu) rs1734829878
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg) rs756415935
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp) rs756415935
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr) rs1579397217
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg) rs2126568112
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile) rs765611464
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala) rs1735357615
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn) rs1553998629
NM_004168.4(SDHA):c.828C>T (p.Gly276=) rs754910183
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala) rs1553998638
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys) rs367721665
NM_004168.4(SDHA):c.835A>T (p.Met279Leu) rs755913710
NM_004168.4(SDHA):c.836T>C (p.Met279Thr) rs777595710
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
NM_004168.4(SDHA):c.837G>T (p.Met279Ile) rs746145822
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn) rs2126568391
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile) rs1171584124
NM_004168.4(SDHA):c.840C>G (p.Ile280Met) rs2126568400
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly) rs1553998658
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr) rs1735361111
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser) rs1579397496
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser) rs2126568567
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr) rs2126568625
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys) rs1579397516
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
NM_004168.4(SDHA):c.872A>T (p.Glu291Val) rs1336029027
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys) rs2126568674
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
NM_004168.4(SDHA):c.882G>T (p.Gln294His) rs371512265
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr) rs1735363396
NM_004168.4(SDHA):c.886C>T (p.His296Tyr) rs1579397566
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala) rs2126539529
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu) rs1579397592
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
NM_004168.4(SDHA):c.895+4G>A rs1735364791
NM_004168.4(SDHA):c.895+4G>C
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
NM_004168.4(SDHA):c.896-10T>G rs2126576716
NM_004168.4(SDHA):c.896-3C>T rs1735543080
NM_004168.4(SDHA):c.896-5T>G rs2126576742
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu) rs1448561231
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr) rs878854637
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile) rs1560985157
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala) rs1398198098
NM_004168.4(SDHA):c.900A>G (p.Ile300Met) rs1735543603
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp) rs1735544082
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser) rs2126576840
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe) rs878854638
NM_004168.4(SDHA):c.916C>G (p.Leu306Val) rs1735544893
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro) rs1477142607
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
NM_004168.4(SDHA):c.924G>A (p.Thr308=) rs1355760590
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly) rs1735547863
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys) rs1735549033
NM_004168.4(SDHA):c.934_936del (p.Arg312del) rs1735548711
NM_004168.4(SDHA):c.935G>A (p.Arg312His) rs876660932
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro) rs876660932
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu) rs876660932
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys) rs1337704280
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala) rs1735550179
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly) rs1735550179
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu) rs1579402194
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg) rs1734831542
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr) rs903136919
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe) rs1735551482
NM_004168.4(SDHA):c.955A>G (p.Ile319Val) rs377509915
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser) rs765092091
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro) rs1553998989
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser) rs1553998991
NM_004168.4(SDHA):c.974G>T (p.Arg325Met) rs1735554223
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr) rs1735554652
NM_004168.4(SDHA):c.979A>G (p.Met327Val) rs1285443776
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
NM_004168.4(SDHA):c.980T>C (p.Met327Thr) rs2126577482
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln) rs778297896
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly) rs771328239
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser) rs1734831975
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser) rs200526913
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly) rs1206201147
NM_004168.4(SDHA):c.992C>T (p.Ala331Val) rs1206201147
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) rs373509391
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540
NM_004168.4(SDHA):c.997G>C (p.Val333Leu) rs1062468
NM_004281.4(BAG3):c.1026C>G (p.Ile342Met)
NM_004281.4(BAG3):c.1028G>A (p.Arg343His) rs774085746
NM_004281.4(BAG3):c.1028G>T (p.Arg343Leu) rs774085746
NM_004281.4(BAG3):c.1032A>T (p.Lys344Asn) rs2134068785
NM_004281.4(BAG3):c.103G>T (p.Gly35Cys) rs200072558
NM_004281.4(BAG3):c.1047A>T (p.Lys349Asn)
NM_004281.4(BAG3):c.104G>A (p.Gly35Asp)
NM_004281.4(BAG3):c.1054T>A (p.Ser352Thr)
NM_004281.4(BAG3):c.1054T>C (p.Ser352Pro)
NM_004281.4(BAG3):c.1055C>G (p.Ser352Cys) rs1564776574
NM_004281.4(BAG3):c.1060A>G (p.Lys354Glu)
NM_004281.4(BAG3):c.1063C>T (p.Pro355Ser) rs761188869
NM_004281.4(BAG3):c.1070C>T (p.Pro357Leu)
NM_004281.4(BAG3):c.1078G>C (p.Glu360Gln) rs2134068848
NM_004281.4(BAG3):c.1083G>C (p.Lys361Asn) rs1060504722
NM_004281.4(BAG3):c.1084G>A (p.Val362Ile)
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala) rs1345725468
NM_004281.4(BAG3):c.1093A>C (p.Lys365Gln)
NM_004281.4(BAG3):c.1096G>A (p.Val366Ile) rs1215731985
NM_004281.4(BAG3):c.1100C>T (p.Pro367Leu)
NM_004281.4(BAG3):c.1105G>C (p.Ala369Pro) rs772900053
NM_004281.4(BAG3):c.1106C>T (p.Ala369Val)
NM_004281.4(BAG3):c.1114C>T (p.Pro372Ser)
NM_004281.4(BAG3):c.1118G>C (p.Cys373Ser) rs876657745
NM_004281.4(BAG3):c.1121C>G (p.Pro374Arg)
NM_004281.4(BAG3):c.1121C>T (p.Pro374Leu) rs770517568
NM_004281.4(BAG3):c.1126C>T (p.Pro376Ser) rs1180366101
NM_004281.4(BAG3):c.1127C>A (p.Pro376His) rs2134068908
NM_004281.4(BAG3):c.112TTC[1] (p.Phe39del) rs1064796808
NM_004281.4(BAG3):c.1133C>G (p.Pro378Arg) rs1847240427
NM_004281.4(BAG3):c.1148T>C (p.Val383Ala)
NM_004281.4(BAG3):c.1155_1157dup (p.Ser386dup) rs751357335
NM_004281.4(BAG3):c.1156T>G (p.Ser386Ala) rs1554877763
NM_004281.4(BAG3):c.1159C>T (p.Pro387Ser) rs780162994
NM_004281.4(BAG3):c.115T>A (p.Phe39Ile)
NM_004281.4(BAG3):c.1165A>G (p.Ser389Gly)
NM_004281.4(BAG3):c.1167T>G (p.Ser389Arg)
NM_004281.4(BAG3):c.1169T>G (p.Val390Gly)
NM_004281.4(BAG3):c.116T>C (p.Phe39Ser) rs1472915271
NM_004281.4(BAG3):c.1174A>G (p.Thr392Ala) rs2134068984
NM_004281.4(BAG3):c.1187C>T (p.Ala396Val) rs769416305
NM_004281.4(BAG3):c.1199C>T (p.Thr400Ile) rs1060502817
NM_004281.4(BAG3):c.1202C>T (p.Ala401Val) rs775153939
NM_004281.4(BAG3):c.1210G>A (p.Glu404Lys) rs1165453591
NM_004281.4(BAG3):c.1213G>T (p.Ala405Ser) rs1416464425
NM_004281.4(BAG3):c.1219C>T (p.Pro407Ser)
NM_004281.4(BAG3):c.1225A>C (p.Lys409Gln)
NM_004281.4(BAG3):c.122A>G (p.Asp41Gly) rs2134050615
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del) rs761727804
NM_004281.4(BAG3):c.1238C>G (p.Ala413Gly)
NM_004281.4(BAG3):c.1241A>G (p.Glu414Gly) rs2134069093
NM_004281.4(BAG3):c.1242G>C (p.Glu414Asp) rs1847243505
NM_004281.4(BAG3):c.1243G>T (p.Ala415Ser) rs1248733449
NM_004281.4(BAG3):c.1244C>A (p.Ala415Asp) rs1847243574
NM_004281.4(BAG3):c.1246C>T (p.Pro416Ser)
NM_004281.4(BAG3):c.1249C>T (p.Pro417Ser) rs1589632706
NM_004281.4(BAG3):c.1252A>G (p.Lys418Glu)
NM_004281.4(BAG3):c.1258C>G (p.Pro420Ala)
NM_004281.4(BAG3):c.1259C>A (p.Pro420Gln)
NM_004281.4(BAG3):c.1259C>T (p.Pro420Leu) rs1303615373
NM_004281.4(BAG3):c.125A>G (p.His42Arg) rs1846844504
NM_004281.4(BAG3):c.1262G>A (p.Gly421Glu) rs886039025
NM_004281.4(BAG3):c.126C>G (p.His42Gln)
NM_004281.4(BAG3):c.1286T>C (p.Leu429Pro) rs1847244354
NM_004281.4(BAG3):c.1293G>C (p.Lys431Asn)
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg) rs886046755
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly) rs1847245034
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn) rs878854652
NM_004281.4(BAG3):c.1323C>G (p.Asn441Lys) rs1325704409
NM_004281.4(BAG3):c.1334A>G (p.Lys445Arg)
NM_004281.4(BAG3):c.133C>A (p.Arg45Ser) rs747820097
NM_004281.4(BAG3):c.133C>G (p.Arg45Gly)
NM_004281.4(BAG3):c.1355T>C (p.Leu452Pro)
NM_004281.4(BAG3):c.1361T>C (p.Ile454Thr)
NM_004281.4(BAG3):c.1362C>G (p.Ile454Met) rs372417286
NM_004281.4(BAG3):c.1366G>A (p.Glu456Lys)
NM_004281.4(BAG3):c.1368G>C (p.Glu456Asp)
NM_004281.4(BAG3):c.1369T>C (p.Tyr457His) rs1470778691
NM_004281.4(BAG3):c.136A>T (p.Thr46Ser) rs771633629
NM_004281.4(BAG3):c.1379A>G (p.Lys460Arg)
NM_004281.4(BAG3):c.137C>T (p.Thr46Ile)
NM_004281.4(BAG3):c.1394T>C (p.Leu465Pro) rs1564776841
NM_004281.4(BAG3):c.1396G>A (p.Asp466Asn) rs1564776847
NM_004281.4(BAG3):c.1408C>A (p.Pro470Thr)
NM_004281.4(BAG3):c.1409C>T (p.Pro470Leu) rs779539475
NM_004281.4(BAG3):c.1411G>C (p.Glu471Gln)
NM_004281.4(BAG3):c.1414G>A (p.Gly472Arg) rs1847246944
NM_004281.4(BAG3):c.1420G>A (p.Ala474Thr) rs2134069318
NM_004281.4(BAG3):c.142A>C (p.Thr48Pro) rs794728980
NM_004281.4(BAG3):c.1430G>A (p.Arg477His) rs387906876
NM_004281.4(BAG3):c.143C>A (p.Thr48Lys) rs1229267488
NM_004281.4(BAG3):c.1442G>C (p.Arg481Thr)
NM_004281.4(BAG3):c.1445dup (p.Asp482fs)
NM_004281.4(BAG3):c.1450G>A (p.Val484Ile)
NM_004281.4(BAG3):c.1451T>A (p.Val484Asp) rs2134069365
NM_004281.4(BAG3):c.1453A>G (p.Arg485Gly) rs2134069371
NM_004281.4(BAG3):c.1471T>G (p.Leu491Val)
NM_004281.4(BAG3):c.1480C>T (p.Leu494Phe)
NM_004281.4(BAG3):c.1481T>C (p.Leu494Pro)
NM_004281.4(BAG3):c.1489A>C (p.Lys497Gln)
NM_004281.4(BAG3):c.1491del (p.Ala498fs)
NM_004281.4(BAG3):c.1492G>T (p.Ala498Ser)
NM_004281.4(BAG3):c.1496T>C (p.Ile499Thr) rs1405717595
NM_004281.4(BAG3):c.1496_1506del (p.Ile499fs)
NM_004281.4(BAG3):c.1498G>T (p.Asp500Tyr)
NM_004281.4(BAG3):c.149A>G (p.Asn50Ser)
NM_004281.4(BAG3):c.1504C>G (p.Pro502Ala) rs1564776954
NM_004281.4(BAG3):c.1504C>T (p.Pro502Ser)
NM_004281.4(BAG3):c.1507G>A (p.Gly503Ser)
NM_004281.4(BAG3):c.1511_1521del (p.Gln504fs)
NM_004281.4(BAG3):c.1519del (p.Val507fs) rs2134069410
NM_004281.4(BAG3):c.151G>A (p.Asp51Asn)
NM_004281.4(BAG3):c.1531C>A (p.Gln511Lys)
NM_004281.4(BAG3):c.1531C>T (p.Gln511Ter) rs781630937
NM_004281.4(BAG3):c.1537A>G (p.Ser513Gly)
NM_004281.4(BAG3):c.1538G>C (p.Ser513Thr)
NM_004281.4(BAG3):c.1541A>G (p.Asn514Ser) rs1564776999
NM_004281.4(BAG3):c.1543C>T (p.Leu515Phe)
NM_004281.4(BAG3):c.1549G>T (p.Ala517Ser)
NM_004281.4(BAG3):c.1552G>C (p.Asp518His)
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg) rs1846845477
NM_004281.4(BAG3):c.1565A>G (p.Gln522Arg)
NM_004281.4(BAG3):c.1567G>A (p.Ala523Thr)
NM_004281.4(BAG3):c.1570A>T (p.Ile524Phe) rs764925485
NM_004281.4(BAG3):c.1573A>C (p.Met525Leu)
NM_004281.4(BAG3):c.1574T>C (p.Met525Thr) rs2134069468
NM_004281.4(BAG3):c.1585G>T (p.Ala529Ser)
NM_004281.4(BAG3):c.1586C>T (p.Ala529Val) rs369690617
NM_004281.4(BAG3):c.1591G>T (p.Ala531Ser)
NM_004281.4(BAG3):c.1598A>C (p.Asp533Ala) rs2134069483
NM_004281.4(BAG3):c.1599C>A (p.Asp533Glu) rs749576988
NM_004281.4(BAG3):c.1599C>G (p.Asp533Glu)
NM_004281.4(BAG3):c.1601A>G (p.Lys534Arg) rs2134069486
NM_004281.4(BAG3):c.1601A>T (p.Lys534Met) rs2134069486
NM_004281.4(BAG3):c.1604G>C (p.Gly535Ala)
NM_004281.4(BAG3):c.160G>C (p.Val54Leu) rs1846845663
NM_004281.4(BAG3):c.1627G>C (p.Glu543Gln)
NM_004281.4(BAG3):c.1628A>C (p.Glu543Ala)
NM_004281.4(BAG3):c.1628A>G (p.Glu543Gly)
NM_004281.4(BAG3):c.1629A>T (p.Glu543Asp)
NM_004281.4(BAG3):c.1630G>A (p.Asp544Asn) rs786205466
NM_004281.4(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004281.4(BAG3):c.1632_1658dup (p.Asp544_Pro552dup) rs2134069510
NM_004281.4(BAG3):c.1632del (p.His546fs) rs2134069512
NM_004281.4(BAG3):c.1633C>G (p.Pro545Ala)
NM_004281.4(BAG3):c.1639A>G (p.Thr547Ala)
NM_004281.4(BAG3):c.1646C>G (p.Thr549Ser)
NM_004281.4(BAG3):c.1646_1652del (p.Thr549fs)
NM_004281.4(BAG3):c.1649A>G (p.Gln550Arg) rs2134069541
NM_004281.4(BAG3):c.1655_1692del (p.Pro552fs)
NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs) rs1273311196
NM_004281.4(BAG3):c.1667C>A (p.Ala556Glu) rs886046756
NM_004281.4(BAG3):c.1667C>T (p.Ala556Val) rs886046756
NM_004281.4(BAG3):c.1669G>A (p.Ala557Thr) rs1847253063
NM_004281.4(BAG3):c.1679C>G (p.Ser560Ter)
NM_004281.4(BAG3):c.1682A>C (p.Asn561Thr)
NM_004281.4(BAG3):c.1684C>A (p.Pro562Thr)
NM_004281.4(BAG3):c.1685C>G (p.Pro562Arg)
NM_004281.4(BAG3):c.1687A>C (p.Ser563Arg) rs1240662655
NM_004281.4(BAG3):c.1687A>G (p.Ser563Gly)
NM_004281.4(BAG3):c.1693A>G (p.Met565Val) rs756485989
NM_004281.4(BAG3):c.1693A>T (p.Met565Leu)
NM_004281.4(BAG3):c.1694T>A (p.Met565Lys)
NM_004281.4(BAG3):c.1699_1702dup (p.Thr568fs) rs2134069586
NM_004281.4(BAG3):c.1702A>C (p.Thr568Pro) rs1407009048
NM_004281.4(BAG3):c.1703C>G (p.Thr568Ser) rs1564777190
NM_004281.4(BAG3):c.1709G>A (p.Gly570Asp)
NM_004281.4(BAG3):c.170A>G (p.Glu57Gly)
NM_004281.4(BAG3):c.1717dup (p.Ala573fs) rs2134069610
NM_004281.4(BAG3):c.1724C>G (p.Pro575Arg) rs748233260
NM_004281.4(BAG3):c.173G>T (p.Gly58Val) rs138785335
NM_004281.4(BAG3):c.176C>G (p.Pro59Arg)
NM_004281.4(BAG3):c.180+5G>A
NM_004281.4(BAG3):c.180+5G>C rs1435201335
NM_004281.4(BAG3):c.185C>T (p.Thr62Ile) rs1847119419
NM_004281.4(BAG3):c.18C>G (p.His6Gln)
NM_004281.4(BAG3):c.199A>T (p.Asn67Tyr)
NM_004281.4(BAG3):c.1A>C (p.Met1Leu)
NM_004281.4(BAG3):c.200A>T (p.Asn67Ile)
NM_004281.4(BAG3):c.209C>T (p.Ser70Phe) rs1847119887
NM_004281.4(BAG3):c.20C>T (p.Ser7Leu)
NM_004281.4(BAG3):c.22C>T (p.Pro8Ser) rs2134050454
NM_004281.4(BAG3):c.233C>T (p.Pro78Leu) rs1277311006
NM_004281.4(BAG3):c.239G>T (p.Arg80Met) rs1847120690
NM_004281.4(BAG3):c.242A>G (p.Glu81Gly)
NM_004281.4(BAG3):c.250C>G (p.Pro84Ala)
NM_004281.4(BAG3):c.251C>G (p.Pro84Arg)
NM_004281.4(BAG3):c.259C>T (p.Pro87Ser)
NM_004281.4(BAG3):c.262C>G (p.Gln88Glu)
NM_004281.4(BAG3):c.266T>A (p.Leu89His) rs1236900746
NM_004281.4(BAG3):c.269G>A (p.Arg90Gln)
NM_004281.4(BAG3):c.271C>T (p.Pro91Ser)
NM_004281.4(BAG3):c.272C>T (p.Pro91Leu) rs1847121929
NM_004281.4(BAG3):c.277T>C (p.Tyr93His) rs960439911
NM_004281.4(BAG3):c.277T>G (p.Tyr93Asp)
NM_004281.4(BAG3):c.27G>C (p.Met9Ile)
NM_004281.4(BAG3):c.280A>G (p.Ile94Val)
NM_004281.4(BAG3):c.283C>T (p.Pro95Ser)
NM_004281.4(BAG3):c.286A>C (p.Ile96Leu) rs1299147536
NM_004281.4(BAG3):c.286A>G (p.Ile96Val)
NM_004281.4(BAG3):c.289C>G (p.Pro97Ala)
NM_004281.4(BAG3):c.289C>T (p.Pro97Ser) rs747274078
NM_004281.4(BAG3):c.28A>G (p.Met10Val) rs779929078
NM_004281.4(BAG3):c.2T>G (p.Met1Arg) rs1846841605
NM_004281.4(BAG3):c.30G>A (p.Met10Ile) rs1275338906
NM_004281.4(BAG3):c.30G>T (p.Met10Ile) rs1275338906
NM_004281.4(BAG3):c.310G>C (p.Glu104Gln)
NM_004281.4(BAG3):c.317G>A (p.Arg106Gln) rs1200121142
NM_004281.4(BAG3):c.31C>A (p.Gln11Lys)
NM_004281.4(BAG3):c.322G>C (p.Val108Leu) rs730880053
NM_004281.4(BAG3):c.322G>T (p.Val108Leu) rs730880053
NM_004281.4(BAG3):c.329C>G (p.Pro110Arg)
NM_004281.4(BAG3):c.329C>T (p.Pro110Leu) rs749587347
NM_004281.4(BAG3):c.32A>T (p.Gln11Leu) rs2134050474
NM_004281.4(BAG3):c.332T>C (p.Phe111Ser) rs1847124056
NM_004281.4(BAG3):c.335A>G (p.His112Arg)
NM_004281.4(BAG3):c.340T>C (p.Tyr114His) rs1589628873
NM_004281.4(BAG3):c.355A>G (p.Met119Val) rs1334163509
NM_004281.4(BAG3):c.359A>G (p.Gln120Arg)
NM_004281.4(BAG3):c.359A>T (p.Gln120Leu) rs1847125036
NM_004281.4(BAG3):c.375G>T (p.Glu125Asp) rs2134063438
NM_004281.4(BAG3):c.377C>T (p.Ala126Val) rs1847125430
NM_004281.4(BAG3):c.37G>C (p.Ala13Pro)
NM_004281.4(BAG3):c.38C>T (p.Ala13Val)
NM_004281.4(BAG3):c.391C>G (p.Pro131Ala) rs140672627
NM_004281.4(BAG3):c.392C>T (p.Pro131Leu) rs778224688
NM_004281.4(BAG3):c.410C>G (p.Pro137Arg) rs781456794
NM_004281.4(BAG3):c.41C>T (p.Ser14Phe) rs2134050488
NM_004281.4(BAG3):c.420C>T (p.Gly140=) rs1847126515
NM_004281.4(BAG3):c.421A>G (p.Met141Val)
NM_004281.4(BAG3):c.430A>G (p.Thr144Ala)
NM_004281.4(BAG3):c.431_445dup (p.Thr144_Asp148dup) rs2134063514
NM_004281.4(BAG3):c.445A>G (p.Lys149Glu) rs2134063528
NM_004281.4(BAG3):c.451_452inv (p.Cys151His)
NM_004281.4(BAG3):c.458A>G (p.Gln153Arg)
NM_004281.4(BAG3):c.461T>C (p.Val154Ala) rs1405459015
NM_004281.4(BAG3):c.462_464dup (p.Ala160dup) rs1339191406
NM_004281.4(BAG3):c.464C>T (p.Ala155Val)
NM_004281.4(BAG3):c.465_467dup (p.Ala160_Gln161insAla)
NM_004281.4(BAG3):c.466G>A (p.Ala156Thr)
NM_004281.4(BAG3):c.467C>A (p.Ala156Glu) rs572038196
NM_004281.4(BAG3):c.467C>T (p.Ala156Val) rs572038196
NM_004281.4(BAG3):c.468GGC[2] (p.Ala160del)
NM_004281.4(BAG3):c.477_479dup (p.Ala160_Gln161insAla)
NM_004281.4(BAG3):c.478G>A (p.Ala160Thr)
NM_004281.4(BAG3):c.479C>T (p.Ala160Val)
NM_004281.4(BAG3):c.484C>A (p.Pro162Thr) rs2134063622
NM_004281.4(BAG3):c.484C>T (p.Pro162Ser) rs2134063622
NM_004281.4(BAG3):c.490G>T (p.Ala164Ser)
NM_004281.4(BAG3):c.499G>A (p.Gly167Arg) rs543720798
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg) rs727502895
NM_004281.4(BAG3):c.502C>T (p.Pro168Ser) rs1554877071
NM_004281.4(BAG3):c.507+5G>A
NM_004281.4(BAG3):c.507G>C (p.Glu169Asp) rs1060502812
NM_004281.4(BAG3):c.508-3C>G rs1400338528
NM_004281.4(BAG3):c.508-4_519dup rs1847159825
NM_004281.4(BAG3):c.512C>A (p.Ser171Tyr) rs794728978
NM_004281.4(BAG3):c.520C>G (p.Pro174Ala)
NM_004281.4(BAG3):c.520C>T (p.Pro174Ser) rs1472073020
NM_004281.4(BAG3):c.529T>C (p.Ser177Pro)
NM_004281.4(BAG3):c.533A>G (p.Asp178Gly)
NM_004281.4(BAG3):c.534C>G (p.Asp178Glu) rs1847160690
NM_004281.4(BAG3):c.535T>A (p.Cys179Ser)
NM_004281.4(BAG3):c.536G>A (p.Cys179Tyr)
NM_004281.4(BAG3):c.538T>C (p.Ser180Pro)
NM_004281.4(BAG3):c.538T>G (p.Ser180Ala)
NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn)
NM_004281.4(BAG3):c.545C>T (p.Ser182Leu) rs1428247151
NM_004281.4(BAG3):c.547T>C (p.Ser183Pro) rs772491154
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del) rs763170019
NM_004281.4(BAG3):c.550T>A (p.Ser184Thr)
NM_004281.4(BAG3):c.550T>G (p.Ser184Ala)
NM_004281.4(BAG3):c.551C>T (p.Ser184Phe) rs1450366653
NM_004281.4(BAG3):c.555G>A (p.Ser185=) rs1247645930
NM_004281.4(BAG3):c.556G>C (p.Ala186Pro) rs2134064990
NM_004281.4(BAG3):c.565_588del (p.Pro189_Leu196del)
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys) rs201487919
NM_004281.4(BAG3):c.576C>T (p.Gly192=) rs1384999606
NM_004281.4(BAG3):c.580A>G (p.Ser194Gly)
NM_004281.4(BAG3):c.582C>G (p.Ser194Arg) rs927441881
NM_004281.4(BAG3):c.583A>G (p.Ser195Gly)
NM_004281.4(BAG3):c.589G>A (p.Gly197Ser)
NM_004281.4(BAG3):c.58G>A (p.Asp20Asn) rs1846842832
NM_004281.4(BAG3):c.590G>A (p.Gly197Asp)
NM_004281.4(BAG3):c.592A>T (p.Ser198Cys)
NM_004281.4(BAG3):c.5G>A (p.Ser2Asn) rs1396002893
NM_004281.4(BAG3):c.600G>C (p.Gln200His) rs768201611
NM_004281.4(BAG3):c.608G>A (p.Arg203Gln) rs1057524225
NM_004281.4(BAG3):c.608G>C (p.Arg203Pro) rs1057524225
NM_004281.4(BAG3):c.610G>A (p.Gly204Arg) rs1187185992
NM_004281.4(BAG3):c.61C>G (p.Pro21Ala)
NM_004281.4(BAG3):c.622A>C (p.Ile208Leu) rs1008797667
NM_004281.4(BAG3):c.622A>G (p.Ile208Val)
NM_004281.4(BAG3):c.623T>C (p.Ile208Thr) rs1847163339
NM_004281.4(BAG3):c.628G>T (p.Val210Leu) rs2134065126
NM_004281.4(BAG3):c.62C>G (p.Pro21Arg) rs1589619881
NM_004281.4(BAG3):c.631A>G (p.Ile211Val)
NM_004281.4(BAG3):c.631A>T (p.Ile211Leu)
NM_004281.4(BAG3):c.634C>A (p.His212Asn) rs752772180
NM_004281.4(BAG3):c.637G>A (p.Glu213Lys) rs1311591078
NM_004281.4(BAG3):c.645C>A (p.Asn215Lys) rs138078305
NM_004281.4(BAG3):c.655C>T (p.Pro219Ser) rs1847164115
NM_004281.4(BAG3):c.658G>A (p.Ala220Thr) rs1847164154
NM_004281.4(BAG3):c.665A>G (p.Gln222Arg)
NM_004281.4(BAG3):c.666G>T (p.Gln222His)
NM_004281.4(BAG3):c.667C>A (p.Pro223Thr)
NM_004281.4(BAG3):c.667C>G (p.Pro223Ala)
NM_004281.4(BAG3):c.668C>T (p.Pro223Leu) rs754615028
NM_004281.4(BAG3):c.673T>C (p.Phe225Leu) rs1847164443
NM_004281.4(BAG3):c.677A>G (p.His226Arg) rs1554877252
NM_004281.4(BAG3):c.68C>T (p.Pro23Leu) rs1846843077
NM_004281.4(BAG3):c.694C>G (p.His232Asp) rs2134065202
NM_004281.4(BAG3):c.695A>C (p.His232Pro) rs746241240
NM_004281.4(BAG3):c.70C>T (p.Pro24Ser) rs2134050540
NM_004281.4(BAG3):c.711G>C (p.Gln237His) rs369377620
NM_004281.4(BAG3):c.712G>A (p.Gly238Arg)
NM_004281.4(BAG3):c.714G>T (p.Gly238=)
NM_004281.4(BAG3):c.724A>G (p.Thr242Ala)
NM_004281.4(BAG3):c.729C>G (p.His243Gln)
NM_004281.4(BAG3):c.737T>C (p.Val246Ala) rs766444344
NM_004281.4(BAG3):c.742C>T (p.His248Tyr)
NM_004281.4(BAG3):c.746A>G (p.Lys249Arg)
NM_004281.4(BAG3):c.750C>G (p.Ile250Met)
NM_004281.4(BAG3):c.761A>G (p.Asp254Gly) rs2134065274
NM_004281.4(BAG3):c.76T>G (p.Trp26Gly) rs1846843335
NM_004281.4(BAG3):c.773G>A (p.Arg258Gln) rs746551805
NM_004281.4(BAG3):c.776C>T (p.Pro259Leu) rs757710876
NM_004281.4(BAG3):c.781_795del (p.Arg261_Pro265del)
NM_004281.4(BAG3):c.782G>A (p.Arg261Gln) rs746454994
NM_004281.4(BAG3):c.782G>C (p.Arg261Pro) rs746454994
NM_004281.4(BAG3):c.784G>A (p.Ala262Thr) rs876661343
NM_004281.4(BAG3):c.788C>T (p.Ala263Val) rs1057523599
NM_004281.4(BAG3):c.7G>A (p.Ala3Thr)
NM_004281.4(BAG3):c.801G>T (p.Arg267Ser) rs2134065343
NM_004281.4(BAG3):c.802T>C (p.Ser268Pro) rs761965592
NM_004281.4(BAG3):c.806C>T (p.Ser269Phe)
NM_004281.4(BAG3):c.815G>A (p.Gly272Asp)
NM_004281.4(BAG3):c.815G>T (p.Gly272Val) rs1589630345
NM_004281.4(BAG3):c.818C>T (p.Ala273Val) rs1847166946
NM_004281.4(BAG3):c.830A>T (p.Glu277Val) rs762471704
NM_004281.4(BAG3):c.833G>T (p.Gly278Val)
NM_004281.4(BAG3):c.84C>G (p.Ile28Met)
NM_004281.4(BAG3):c.851G>T (p.Ser284Ile)
NM_004281.4(BAG3):c.853A>G (p.Thr285Ala)
NM_004281.4(BAG3):c.865T>G (p.Ser289Ala) rs1160709384
NM_004281.4(BAG3):c.868C>G (p.Pro290Ala)
NM_004281.4(BAG3):c.871T>A (p.Ser291Thr)
NM_004281.4(BAG3):c.874C>T (p.Pro292Ser)
NM_004281.4(BAG3):c.875C>G (p.Pro292Arg) rs748451757
NM_004281.4(BAG3):c.875C>T (p.Pro292Leu)
NM_004281.4(BAG3):c.880C>T (p.Arg294Cys) rs144585878
NM_004281.4(BAG3):c.884T>G (p.Val295Gly)
NM_004281.4(BAG3):c.886C>T (p.His296Tyr) rs1268848002
NM_004281.4(BAG3):c.888C>A (p.His296Gln) rs139399890
NM_004281.4(BAG3):c.889A>G (p.Thr297Ala) rs794728979
NM_004281.4(BAG3):c.890C>T (p.Thr297Ile) rs2134065455
NM_004281.4(BAG3):c.895G>T (p.Val299Phe)
NM_004281.4(BAG3):c.907C>G (p.Gln303Glu)
NM_004281.4(BAG3):c.909+4C>A rs376351857
NM_004281.4(BAG3):c.909+4C>G rs376351857
NM_004281.4(BAG3):c.909+5G>A
NM_004281.4(BAG3):c.916A>G (p.Met306Val)
NM_004281.4(BAG3):c.91G>C (p.Asp31His)
NM_004281.4(BAG3):c.948G>T (p.Gln316His)
NM_004281.4(BAG3):c.949C>T (p.Pro317Ser) rs2134068679
NM_004281.4(BAG3):c.95C>G (p.Pro32Arg)
NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)
NM_004281.4(BAG3):c.973C>G (p.Pro325Ala) rs2134068715
NM_004281.4(BAG3):c.979C>A (p.Pro327Thr)
NM_004281.4(BAG3):c.980C>G (p.Pro327Arg) rs1847236737
NM_004281.4(BAG3):c.989C>T (p.Pro330Leu) rs1847237047
NM_004281.4(BAG3):c.994C>T (p.Leu332Phe)
NM_004281.4(BAG3):c.99G>C (p.Gln33His) rs2134050569
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn) rs2106378691
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=) rs886044426
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu) rs2106378611
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile) rs2106378544
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu) rs189772397
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly) rs2106388893
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr)
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val)
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn) rs372071064
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly) rs1051157564
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del) rs886042334
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe) rs2078180823
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu) rs746277006
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val) rs1559280207
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser) rs2078177097
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe) rs2078177026
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu)
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile) rs2106378142
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe) rs2078176426
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr) rs2106370456
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp) rs777078456
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala)
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val) rs2106370357
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val)
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys)
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly) rs2078001580
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys)
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val) rs2106370266
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met)
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His) rs2077999753
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr)
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr) rs2077998366
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser) rs775165275
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu)
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro)
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys)
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr)
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly)
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile)
NM_004369.4(COL6A3):c.161A>G (p.His54Arg)
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val)
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val) rs765665120
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr) rs1574725167
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu) rs1553562483
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln)
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys)
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile) rs886043319
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu) rs2106369723
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro)
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys) rs886043105
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr) rs769257731
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg)
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys)
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn) rs1181696188
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala) rs768274647
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr)
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys)
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile)
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile)
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser) rs746265516
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly)
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser)
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser)
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala)
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu) rs35227432
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp) rs1325552568
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly) rs753741086
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu) rs2106367262
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys)
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly) rs2106367237
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile)
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys) rs2106367135
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val) rs2106367128
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp)
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly) rs138570455
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys) rs370719148
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser) rs1410013839
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr)
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys)
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln) rs776048975
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe)
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe)
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp) rs1574719707
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val) rs777869450
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro) rs939675343
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly)
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser) rs1574719546
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val)
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala) rs2106366553
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)
NM_004369.4(COL6A3):c.2497+20G>A
NM_004369.4(COL6A3):c.2497+3A>T
NM_004369.4(COL6A3):c.2497+4_2497+9del
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn)
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg) rs767437328
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu) rs1574716769
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly) rs2077873907
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val) rs570233756
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe)
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys) rs2106364778
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe)
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln)
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser)
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln)
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys) rs780855121
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His)
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg)
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val) rs2077868769
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met) rs890279367
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys) rs189356869
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp) rs2106364518
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro)
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys)
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys) rs886043736
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile)
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala) rs1226873582
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln)
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala)
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser) rs768292803
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala) rs2077857997
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met) rs145203676
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr) rs2077856364
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg)
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn) rs2106364042
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val) rs1194314017
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg)
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln) rs114284669
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu) rs2077853056
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln)
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser) rs2077852366
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu)
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu)
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser)
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro)
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys) rs2106361725
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp)
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu) rs532449385
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala) rs1238550268
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu)
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala)
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser) rs369460632
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val)
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val)
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg) rs2106361380
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile)
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg) rs752924311
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr)
NM_004369.4(COL6A3):c.3336G>A (p.Leu1112=) rs1553560545
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro)
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met) rs1574709919
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn)
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg) rs2106361269
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser) rs2077786156
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val) rs2077785980
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met)
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile) rs199964760
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser)
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala) rs2106388440
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr) rs2106361118
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg)
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val)
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser)
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys) rs2106388428
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met)
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile)
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile) rs2077780771
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser)
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His)
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys) rs2077777129
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser) rs1553560314
NM_004369.4(COL6A3):c.3679+5G>A
NM_004369.4(COL6A3):c.3680-14C>G
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser)
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val)
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg)
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly) rs1190794379
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro) rs1553559646
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu) rs368077444
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn)
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe) rs886044373
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr)
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp)
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr)
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly) rs773456951
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn)
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu) rs2077710026
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn) rs752309834
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile) rs2077709263
NM_004369.4(COL6A3):c.386A>G (p.His129Arg)
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg)
NM_004369.4(COL6A3):c.3873C>T (p.Ser1291=)
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr)
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met) rs899539198
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu)
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu)
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met)
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile) rs779967310
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser) rs750341446
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys) rs750341446
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala)
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn) rs781033908
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro)
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly)
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val)
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile) rs2077700902
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His) rs2106357056
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr) rs1460462771
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val)
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr) rs372234605
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser) rs372234605
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser)
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly)
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp) rs780669785
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser) rs764522621
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu) rs1367588379
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del) rs886043395
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg)
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)
NM_004369.4(COL6A3):c.4285+3G>A
NM_004369.4(COL6A3):c.4286-7T>G
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg) rs2077626425
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu) rs775286217
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu) rs144314743
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr) rs2106353352
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile)
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe)
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala)
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn) rs772700553
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val) rs2077624929
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln) rs2077624807
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys) rs2077624444
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly)
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu)
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser) rs771199614
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His) rs2077623565
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys) rs2106353213
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg) rs2106353172
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser) rs2077622262
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile) rs2077622262
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn)
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu) rs115551245
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp) rs2106353091
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) rs754840728
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys) rs766158387
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met) rs766158387
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg) rs1293450770
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala)
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe) rs1370846981
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser)
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr) rs2077618678
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp)
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser)
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala)
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser)
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser)
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr) rs1559279425
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu) rs375207869
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu) rs1553557605
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr)
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met) rs201178064
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly) rs200825417
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn) rs1473351823
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg) rs1340303980
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp) rs1559239453
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile)
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala) rs745755603
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His) rs904372024
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu) rs886042267
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala) rs1559239279
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val) rs1064796167
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val)
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn)
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser) rs2106352582
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu)
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser) rs200433282
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val) rs1168631702
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met) rs398124121
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu) rs398124121
NM_004369.4(COL6A3):c.4900+3A>G rs894493736
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu) rs1553556773
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met)
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu) rs1559237565
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu)
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val) rs941055048
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu) rs1574991145
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr) rs1574991130
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val)
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys) rs1194443961
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu)
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del)
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys) rs1553556695
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg)
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu) rs886043879
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala)
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe) rs1028347478
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu) rs370475865
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn)
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile)
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg) rs2077571169
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp) rs1553556546
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=)
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg)
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn)
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met) rs2077569879
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys)
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln) rs886042855
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu)
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln)
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn) rs536364005
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn)
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp) rs2106350563
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr)
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser) rs755698278
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg) rs763289509
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala) rs771598463
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu)
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly) rs2077565368
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile) rs2106350461
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr)
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala)
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser)
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu)
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys) rs114357878
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val) rs2077563075
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn) rs1553556280
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys)
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln) rs1463075616
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr)
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser) rs1440752292
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser)
NM_004369.4(COL6A3):c.5500+3A>C rs1345603228
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp)
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser) rs1559235332
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly)
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala) rs747200439
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala) rs1559235183
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro)
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn) rs906293407
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr) rs756521643
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser) rs756521643
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val)
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser) rs1465215888
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro) rs1559234936
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala)
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu)
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met)
NM_004369.4(COL6A3):c.5685G>A (p.Ser1895=) rs1026411798
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser)
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly)
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys)
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) rs2106349155
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser) rs750367811
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly)
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys)
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg) rs1351246573
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys) rs1574987599
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys)
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile) rs113817270
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser) rs1574987505
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu)
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp) rs2078384466
NM_004369.4(COL6A3):c.5838+5G>A rs1553555753
NM_004369.4(COL6A3):c.5838+9G>C
NM_004369.4(COL6A3):c.5839-9T>G
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe) rs1454153037
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr) rs2078384209
NM_004369.4(COL6A3):c.587A>G (p.His196Arg)
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr) rs1364239110
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala) rs200110562
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr) rs2077502544
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala) rs773896666
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys) rs886042371
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe)
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln) rs1362987398
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly) rs558534346
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr) rs1559231403
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg) rs1326219992
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val) rs1211265308
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
NM_004369.4(COL6A3):c.6063+5dup rs2077478134
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly) rs2106344266
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr) rs758893173
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe) rs1316305394
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys)
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met)
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn) rs1574755113
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser) rs767129751
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val)
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg)
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp) rs2106343480
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys) rs2106343479
NM_004369.4(COL6A3):c.619C>A (p.His207Asn) rs749985039
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr) rs749985039
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys)
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp) rs963783516
NM_004369.4(COL6A3):c.6210+4dup
NM_004369.4(COL6A3):c.6210+9_6210+19del
NM_004369.4(COL6A3):c.6211-11T>A
NM_004369.4(COL6A3):c.6211-4A>G rs398124127
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys) rs2106342311
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys) rs1306849935
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met)
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu) rs2106342286
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr) rs2106342283
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser)
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val) rs794727188
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg)
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
NM_004369.4(COL6A3):c.6287C>T (p.Ser2096Phe) rs765213888
NM_004369.4(COL6A3):c.6290G>A (p.Arg2097Gln) rs79375816
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.4(COL6A3):c.6309+10C>G rs2077385627
NM_004369.4(COL6A3):c.6309+3A>T rs1553553327
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_004369.4(COL6A3):c.6317T>G (p.Val2106Gly)
NM_004369.4(COL6A3):c.6354+5G>A
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu) rs1574974640
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg)
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg)
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly) rs530866854
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp) rs2106340479
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg) rs2106340509
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys) rs1574973805
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn) rs2077367323
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr)
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro) rs145561490
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser)
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu) rs758376967
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu) rs745761792
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln)
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg) rs762287373
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu)
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu)
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu) rs2106339211
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr)
NM_004369.4(COL6A3):c.6591+5G>A rs1574971639
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser) rs761353795
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp) rs1319341064
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr) rs398124129
NM_004369.4(COL6A3):c.6627+3G>A
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val) rs2106334478
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala) rs1574963550
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val)
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln) rs753307921
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val) rs1473692842
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln)
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr) rs2077198497
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly)
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val)
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln)
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser)
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser)
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn) rs2077197570
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg) rs761156771
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr)
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr) rs1574958818
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val) rs1186288111
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys) rs759657526
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=) rs886044656
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg) rs1224613890
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile)
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe) rs1559212695
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr) rs2106329002
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu)
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser) rs370862741
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His) rs1177122610
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn)
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn)
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser) rs1243164167
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln)
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu) rs751617505
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys) rs113961575
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr) rs886044392
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala) rs886044392
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr) rs371637449
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser) rs2077126598
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His)
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr)
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg) rs2106326911
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly) rs1482724586
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser) rs934983963
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala)
NM_004369.4(COL6A3):c.7092+5G>A
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr) rs1553564820
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg)
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp)
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His)
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly)
NM_004369.4(COL6A3):c.7162+2dup
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser)
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly) rs2078202028
NM_004369.4(COL6A3):c.7174+5G>A rs777424537
NM_004369.4(COL6A3):c.7174+5G>T
NM_004369.4(COL6A3):c.7175-3C>T
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu)
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu) rs2078201961
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro) rs2077065222
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val) rs2077064946
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys)
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn)
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu) rs768794876
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His)
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser)
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile)
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe)
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp)
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro)
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala)
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met) rs1400293403
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile) rs2106379268
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala) rs2077061420
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys) rs886044364
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp) rs114199044
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu) rs2077060526
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe)
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro) rs1574948119
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys) rs2106324901
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly)
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile) rs2106324896
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu)
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp) rs398124134
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met) rs1446344528
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile)
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr)
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly) rs749651818
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu) rs2077056501
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala)
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn) rs201283466
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg)
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile)
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del)
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr) rs2106324714
NM_004369.4(COL6A3):c.7668+5G>C
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His) rs1553547891
NM_004369.4(COL6A3):c.7669-3C>T rs763071900
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg) rs780964113
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile) rs1559203170
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln) rs2077000191
NM_004369.4(COL6A3):c.7765+17A>G rs761150742
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly)
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu) rs1553546746
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe)
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu)
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg) rs1381568881
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys)
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr)
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser)
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu) rs114806654
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly)
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys)
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg)
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr) rs2106320038
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu) rs1419214464
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro) rs1192265506
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr) rs1559201034
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg) rs761740861
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg)
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val) rs957705259
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe) rs1031349800
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn) rs763974888
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr) rs763974888
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp) rs756868781
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu)
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys) rs144130137
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln)
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val) rs770586429
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro) rs2076967534
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met) rs886044644
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe) rs2106319405
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu) rs2106319353
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp) rs1553546042
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser)
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu)
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn)
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu)
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln)
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
NM_004369.4(COL6A3):c.862G>C (p.Asp288His)
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1]) rs780678900
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3]) rs1167608831
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser) rs1553544899
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu) rs1553544853
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser)
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser)
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His) rs1559194476
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp) rs1455583519
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser)
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala)
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser) rs2106314453
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala) rs1700542767
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr) rs1361910233
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln)
NM_004369.4(COL6A3):c.87A>T (p.Gln29His) rs775946239
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly) rs1440572476
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu) rs36020669
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg) rs1700539745
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser)
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His)
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser) rs1700538106
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup) rs35879189
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val) rs1287394484
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser) rs1256198664
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
NM_004369.4(COL6A3):c.8966-3C>T
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg)
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr) rs1559270845
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala)
NM_004369.4(COL6A3):c.898_900del (p.Ser300del) rs554176183
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser) rs1187707448
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr)
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val)
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu)
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del) rs756150789
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro) rs1700446197
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val) rs1299012840
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu) rs1553544136
NM_004369.4(COL6A3):c.91+4A>G
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe)
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)
NM_004369.4(COL6A3):c.9229+4_9229+7del
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser) rs1700374826
NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu) rs182976977
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile) rs1700373011
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln) rs1288932366
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)
NM_004369.4(COL6A3):c.9328+3G>A
NM_004369.4(COL6A3):c.9329-14T>A
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val) rs781284019
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)
NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala)
NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn)
NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys) rs1699900051
NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val) rs886042448
NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)
NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)
NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val) rs1553541451
NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)
NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)
NM_004369.4(COL6A3):c.9481del (p.Val3161fs)
NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)
NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro) rs2106297671
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn) rs2078191004
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr) rs2078190150
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) rs542283928
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu)
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp)
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr) rs2149467566
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met) rs2149467444
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile) rs1253680957
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln) rs2149467365
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr) rs779083996
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala) rs1582198440
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val) rs1032545730
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter) rs2149467117
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val) rs1582198261
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr) rs1325717704
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
NM_004370.6(COL12A1):c.125A>G (p.His42Arg) rs760445921
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn) rs2149466995
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val) rs2149466974
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn) rs1769466109
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu) rs1769450841
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met) rs1769449076
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val) rs2149466346
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln) rs779234808
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val) rs1769434215
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys) rs2149466133
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg) rs2149466076
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr) rs1770137078
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=) rs2149466030
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu) rs774728500
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn) rs2149465941
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met) rs1769421436
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp) rs1769421051
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met) rs557804521
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly) rs2149465853
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly) rs1002113974
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu) rs2149465802
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser) rs775466928
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu) rs2149465788
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val) rs1344964508
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn) rs2149465694
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr) rs2149465694
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala) rs1770135564
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly) rs1356178155
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met) rs962496340
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
NM_004370.6(COL12A1):c.1891+4A>C rs148292262
NM_004370.6(COL12A1):c.1891+6T>C
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr) rs952803259
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser) rs952803259
NM_004370.6(COL12A1):c.1892-6_1892-5insG rs752652515
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile) rs200315815
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu) rs200315815
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
NM_004370.6(COL12A1):c.1921del (p.Ser641fs) rs2149462293
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala) rs1769262393
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=) rs2149462277
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu) rs2149479257
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala) rs2149462234
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs) rs1769258754
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val) rs1769258112
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys) rs2149462161
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser) rs1769255982
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn) rs1233438359
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn) rs2149461916
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val) rs2149461913
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro) rs1562315490
NM_004370.6(COL12A1):c.2164+6A>G rs746467248
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr) rs1769052023
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala) rs1769051365
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr) rs750973541
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys) rs2149457038
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter) rs1034315777
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val) rs1769044982
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe) rs2149456891
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala) rs2149456824
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp) rs2149456727
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu) rs2149456708
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile) rs1769035606
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr) rs772493333
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp) rs1769033719
NM_004370.6(COL12A1):c.2437+6G>A rs1769033413
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys) rs371428645
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly) rs1768877676
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala) rs1194621615
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val) rs1489423171
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu) rs2149452205
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu) rs2149452194
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu) rs2149452186
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
NM_004370.6(COL12A1):c.2561del (p.Gly854fs) rs1582179372
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val) rs2149452026
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu) rs764066205
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu) rs777386471
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val) rs777386471
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg) rs2149451801
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp) rs1768851120
NM_004370.6(COL12A1):c.2711-5T>G
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro) rs369193482
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr) rs1768261723
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile) rs1768259480
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro) rs2149438769
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu) rs1236232001
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu) rs370815575
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly) rs1768252416
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del) rs1768250668
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His) rs752812483
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=) rs1768247192
NM_004370.6(COL12A1):c.2983+1G>T
NM_004370.6(COL12A1):c.2983+2T>G
NM_004370.6(COL12A1):c.2983+3A>C
NM_004370.6(COL12A1):c.2983+3del
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe) rs1582147328
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys) rs1767775935
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr) rs1767775644
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala) rs1767774122
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile) rs1582147115
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala) rs1582147110
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys) rs2149424485
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser) rs575168916
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg) rs2149424441
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile) rs1767764943
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr) rs1767764412
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly) rs2149424377
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu) rs772210650
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter) rs868543538
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys) rs2149424189
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu) rs2149423356
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys) rs1767727217
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe) rs2149423302
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn) rs2149423269
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln) rs2149423255
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp) rs1767721141
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala) rs1272550670
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His) rs2149423214
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
NM_004370.6(COL12A1):c.334+4A>T rs1769967046
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met) rs2149423183
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys) rs1582145759
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp) rs1420617553
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
NM_004370.6(COL12A1):c.3444-6T>G
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile) rs759294983
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala) rs770692332
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln) rs1767653671
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro) rs1190415160
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
NM_004370.6(COL12A1):c.3565+1G>A
NM_004370.6(COL12A1):c.3566-8C>G rs201709757
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln) rs775382202
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr) rs2149417585
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn) rs1582139804
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
NM_004370.6(COL12A1):c.3835+3_3835+6del
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys) rs1387157172
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu) rs1489541121
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr) rs376766442
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr) rs1769938135
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.393A>C (p.Gln131His) rs1769937627
NM_004370.6(COL12A1):c.394+1G>A
NM_004370.6(COL12A1):c.394+3G>A
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu) rs570245614
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val) rs557573017
NM_004370.6(COL12A1):c.4000+4C>T rs375772555
NM_004370.6(COL12A1):c.4001-11C>A
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val) rs2149415452
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala) rs1335085130
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn) rs1767469659
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn) rs913180274
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser) rs913180274
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met) rs745813975
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly) rs2149415249
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile) rs2149415231
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val) rs2149415217
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser) rs1268978531
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys) rs1405840866
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn) rs1033092764
NM_004370.6(COL12A1):c.4147+3A>G
NM_004370.6(COL12A1):c.4147+4A>T
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr) rs2149410743
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del) rs1767315080
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val) rs1582133150
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser) rs1767312990
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp) rs758640189
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser) rs779038394
NM_004370.6(COL12A1):c.4287+4A>T rs1767305838
NM_004370.6(COL12A1):c.4288-14A>G
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln) rs779064060
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu) rs779064060
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn) rs889393418
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu) rs1767273965
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys) rs1582131685
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr) rs1394611159
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys) rs897954123
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
NM_004370.6(COL12A1):c.4417+4A>G rs2149409130
NM_004370.6(COL12A1):c.4417+5G>A
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile) rs1767188215
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile) rs1246887485
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=) rs199901074
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val) rs1582129070
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys) rs1767180643
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
NM_004370.6(COL12A1):c.4560+8A>G
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu) rs556742432
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly) rs2149475927
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu) rs1226808307
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys) rs1767128506
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr) rs1767128506
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser) rs1028650601
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp) rs367865394
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=) rs1767120492
NM_004370.6(COL12A1):c.4690+5G>A rs1767120188
NM_004370.6(COL12A1):c.4691-8T>A
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser) rs2149402848
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly) rs1767009455
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val) rs548978005
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro) rs373006852
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
NM_004370.6(COL12A1):c.4827+3A>G
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro) rs750511139
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile) rs765702033
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile) rs368180489
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His) rs759038011
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser) rs773883741
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
NM_004370.6(COL12A1):c.4954_4957+2dup
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
NM_004370.6(COL12A1):c.4957+11_4957+12inv
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp) rs1766760179
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp) rs1582115930
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu) rs1766757762
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala) rs2149475862
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser) rs550455854
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr) rs749443694
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys) rs1369964113
NM_004370.6(COL12A1):c.5097+6T>A
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val) rs2149475842
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn) rs1766737229
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala) rs750726658
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser) rs530680231
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
NM_004370.6(COL12A1):c.5231-9_5231-8del
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr) rs2149394273
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro) rs748487098
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met) rs1766678485
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu) rs1766675850
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser) rs2149394149
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys) rs370767331
NM_004370.6(COL12A1):c.5394+5T>G
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
NM_004370.6(COL12A1):c.5395-10T>C
NM_004370.6(COL12A1):c.5395-14C>G
NM_004370.6(COL12A1):c.5395-17G>A
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu) rs754812998
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile) rs1769824140
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly) rs1419443025
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly) rs775456254
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys) rs374927144
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup) rs1766496347
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val) rs2149389596
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
NM_004370.6(COL12A1):c.5525-6T>A
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys) rs1769823295
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn) rs2149475753
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu) rs543663005
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu) rs377417661
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val) rs1370422060
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly) rs773807635
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln) rs1242897212
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys) rs1766437313
NM_004370.6(COL12A1):c.5664+3A>G rs2149387981
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser) rs2149387327
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr) rs2149387306
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser) rs1766408982
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala) rs1766405494
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val) rs2149387143
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn) rs1766404958
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser) rs2149387040
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=) rs199632288
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly) rs1474687066
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr) rs1562184031
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile) rs2149385416
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn) rs2149385355
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr) rs2149385355
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met) rs536233725
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys) rs920578725
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro) rs2149385256
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del) rs1766274789
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys) rs1400789071
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys) rs1766270191
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu) rs1013402934
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser) rs780638272
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met) rs1766265495
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg) rs569212577
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu) rs200777154
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr) rs1766227819
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser) rs1253942397
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys) rs769518059
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg) rs2149475605
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met) rs1766123299
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn) rs1403624483
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg) rs1766116749
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=) rs1766115548
NM_004370.6(COL12A1):c.6341-9T>A rs1562169801
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg) rs1766019017
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu) rs1769818108
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys) rs1402262599
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val) rs1582209053
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr) rs1766015017
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu) rs1277921609
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys) rs1469571574
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
NM_004370.6(COL12A1):c.6460+6G>A
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser) rs1582089703
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu) rs1582089675
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr) rs920759306
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser) rs2149475535
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys) rs2149375589
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
NM_004370.6(COL12A1):c.652A>G (p.Met218Val) rs2149475531
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg) rs756215547
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe) rs1765951451
NM_004370.6(COL12A1):c.658+6T>C
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu) rs773548520
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu) rs761964344
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser) rs2149374223
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp) rs759202641
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln) rs1253362145
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile) rs1257364285
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe) rs1765905733
NM_004370.6(COL12A1):c.6724+6T>C
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg) rs2149373796
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys) rs754290184
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr) rs2149373719
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu) rs1765882595
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys) rs2149372645
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg) rs780038146
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr) rs747966606
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del) rs745810321
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu) rs1765844509
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg) rs1302398240
NM_004370.6(COL12A1):c.6946+5G>A rs1582086058
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu) rs1765839616
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg) rs200443479
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His) rs1765722908
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr) rs1400495680
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala) rs778958906
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala) rs1765717648
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile) rs1231345150
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.7086+4A>G
NM_004370.6(COL12A1):c.7087-3C>T rs1769248501
NM_004370.6(COL12A1):c.7087-5T>G rs1410734553
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser) rs2149366659
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro) rs1769243797
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
NM_004370.6(COL12A1):c.7210+3dup
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn) rs568748031
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser) rs1290886066
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly) rs1769229174
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His) rs1769228699
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala) rs1769227311
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met) rs1769226903
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser) rs2149366214
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val) rs1224729276
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
NM_004370.6(COL12A1):c.74-2A>T
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala) rs1769137471
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu) rs1470111741
NM_004370.6(COL12A1):c.7519+6T>C rs2149363457
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser) rs1468041100
NM_004370.6(COL12A1):c.7558+5G>A
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu) rs1769053374
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser) rs1168175119
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys) rs2149361441
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser) rs1769052516
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala) rs942074618
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp) rs1302611725
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His) rs1364305836
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His) rs1768945805
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys) rs1312651383
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val) rs375113182
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala) rs1768943469
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu) rs1428757896
NM_004370.6(COL12A1):c.7841-3C>T
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu) rs1194345062
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala) rs1582069073
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu) rs2149482865
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del) rs1238774939
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
NM_004370.6(COL12A1):c.7950+5A>T rs771300269
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe) rs1347122880
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln) rs1768709126
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His) rs1324430356
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met) rs536679905
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met) rs1167733175
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His) rs2149353031
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
NM_004370.6(COL12A1):c.8100+4A>T rs2149352934
NM_004370.6(COL12A1):c.8100+5G>T
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr) rs1768551206
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
NM_004370.6(COL12A1):c.8178+6T>C
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=) rs1768547356
NM_004370.6(COL12A1):c.8179-17T>G
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg) rs1768494060
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
NM_004370.6(COL12A1):c.823+4G>A
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala) rs1582055239
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr) rs1768489455
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
NM_004370.6(COL12A1):c.8266-6T>G
NM_004370.6(COL12A1):c.8266-8T>A
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr) rs1768418483
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr) rs1473515166
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val) rs1476228934
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val) rs1254845133
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp) rs1768363255
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu) rs1768363108
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys) rs1768362148
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu) rs997353607
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu) rs1160043441
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser) rs1582050849
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp) rs1768358751
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp) rs1768356411
NM_004370.6(COL12A1):c.8415+2dup
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys) rs2149343509
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser) rs2149343047
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
NM_004370.6(COL12A1):c.8524-3T>G
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg) rs574147225
NM_004370.6(COL12A1):c.8577+4A>G rs1562105188
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=) rs1768087709
NM_004370.6(COL12A1):c.8578-6T>G
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala) rs2149333527
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val) rs1385414325
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=) rs1767942315
NM_004370.6(COL12A1):c.8649+6C>T rs1037107431
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=) rs900917198
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly) rs1767765917
NM_004370.6(COL12A1):c.8685+3A>G
NM_004370.6(COL12A1):c.8685+4T>C
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr) rs1319038184
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8752+5A>C
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile) rs1767695881
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly) rs1769748525
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp) rs760317754
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu) rs369768310
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln) rs1767686939
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu) rs1582030236
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr) rs1310755474
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr) rs1404705545
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe) rs1767642437
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys) rs1767642101
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val) rs763589676
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly) rs1582219536
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
NM_004370.6(COL12A1):c.9010+4G>C rs2149325295
NM_004370.6(COL12A1):c.9010+5G>A
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu) rs1767574773
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile) rs1767574420
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile) rs1767573014
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro) rs1307746550
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser) rs560180665
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser) rs376189614
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu) rs1767570608
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs) rs2149322917
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys) rs1767569916
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu) rs1767566470
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly) rs2149322777
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val) rs1769746949
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
NM_004370.6(COL12A1):c.9181+4C>G
NM_004370.6(COL12A1):c.9181+5G>A
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val) rs1442527803
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe) rs370040853
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn) rs1769743212
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
NM_004370.6(COL12A1):c.997+2T>C
NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly) rs2105307804
NM_006063.3(KLHL41):c.1055G>T (p.Gly352Val)
NM_006063.3(KLHL41):c.1076A>G (p.Asn359Ser)
NM_006063.3(KLHL41):c.1081G>T (p.Asp361Tyr)
NM_006063.3(KLHL41):c.1110+6_1110+8del rs1186579373
NM_006063.3(KLHL41):c.1114G>C (p.Asp372His)
NM_006063.3(KLHL41):c.1116T>C (p.Asp372=) rs762618255
NM_006063.3(KLHL41):c.1135G>A (p.Val379Ile) rs751438442
NM_006063.3(KLHL41):c.1183G>A (p.Glu395Lys) rs1684085913
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr) rs1574351200
NM_006063.3(KLHL41):c.1202A>G (p.Tyr401Cys) rs2105309733
NM_006063.3(KLHL41):c.1205T>C (p.Val402Ala) rs1684086471
NM_006063.3(KLHL41):c.1225C>G (p.Gln409Glu) rs1168210084
NM_006063.3(KLHL41):c.1268T>C (p.Val423Ala) rs1225657950
NM_006063.3(KLHL41):c.1273G>A (p.Ala425Thr) rs1451090688
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) rs750512280
NM_006063.3(KLHL41):c.1313A>G (p.Tyr438Cys)
NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln) rs940791315
NM_006063.3(KLHL41):c.1393G>A (p.Val465Met)
NM_006063.3(KLHL41):c.1393G>T (p.Val465Leu)
NM_006063.3(KLHL41):c.1409C>T (p.Pro470Leu) rs779897118
NM_006063.3(KLHL41):c.1412A>G (p.Lys471Arg)
NM_006063.3(KLHL41):c.1438C>T (p.Pro480Ser)
NM_006063.3(KLHL41):c.1464T>G (p.Phe488Leu) rs2105311166
NM_006063.3(KLHL41):c.1468G>A (p.Val490Ile)
NM_006063.3(KLHL41):c.146T>C (p.Leu49Ser) rs1684003271
NM_006063.3(KLHL41):c.1477C>T (p.His493Tyr) rs2105311181
NM_006063.3(KLHL41):c.1528G>C (p.Ala510Pro)
NM_006063.3(KLHL41):c.1580A>G (p.Glu527Gly) rs2105312517
NM_006063.3(KLHL41):c.1590A>G (p.Gln530=)
NM_006063.3(KLHL41):c.1603A>T (p.Ile535Phe) rs2105312532
NM_006063.3(KLHL41):c.1624G>C (p.Gly542Arg)
NM_006063.3(KLHL41):c.1654A>G (p.Met552Val)
NM_006063.3(KLHL41):c.1662A>T (p.Gln554His) rs747439201
NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser) rs1684004022
NM_006063.3(KLHL41):c.1717GAT[3] (p.Asp574dup) rs765973620
NM_006063.3(KLHL41):c.1789C>A (p.Arg597Ser) rs1033276582
NM_006063.3(KLHL41):c.199G>C (p.Asp67His) rs1446324489
NM_006063.3(KLHL41):c.223G>A (p.Val75Met)
NM_006063.3(KLHL41):c.229G>C (p.Asp77His) rs1222243445
NM_006063.3(KLHL41):c.22G>A (p.Ala8Thr) rs1684001399
NM_006063.3(KLHL41):c.233A>G (p.Asn78Ser)
NM_006063.3(KLHL41):c.241C>T (p.Pro81Ser)
NM_006063.3(KLHL41):c.266A>G (p.Lys89Arg)
NM_006063.3(KLHL41):c.314A>G (p.Asp105Gly)
NM_006063.3(KLHL41):c.318T>G (p.Ile106Met) rs1684007542
NM_006063.3(KLHL41):c.335G>A (p.Arg112His)
NM_006063.3(KLHL41):c.376C>G (p.Leu126Val)
NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr) rs1202015569
NM_006063.3(KLHL41):c.427CTT[2] (p.Leu145del) rs760524187
NM_006063.3(KLHL41):c.431T>C (p.Leu144Pro)
NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr) rs1684010288
NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)
NM_006063.3(KLHL41):c.464G>A (p.Arg155His)
NM_006063.3(KLHL41):c.495T>G (p.Ile165Met)
NM_006063.3(KLHL41):c.50C>G (p.Thr17Ser)
NM_006063.3(KLHL41):c.519A>T (p.Gln173His) rs144844327
NM_006063.3(KLHL41):c.524C>G (p.Ser175Cys) rs1684011448
NM_006063.3(KLHL41):c.52C>T (p.Leu18Phe)
NM_006063.3(KLHL41):c.539T>A (p.Ile180Asn)
NM_006063.3(KLHL41):c.558C>G (p.Asp186Glu)
NM_006063.3(KLHL41):c.61G>C (p.Asp21His)
NM_006063.3(KLHL41):c.631A>G (p.Arg211Gly) rs1684012984
NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala) rs780361528
NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser) rs2105308096
NM_006063.3(KLHL41):c.734A>T (p.Asn245Ile) rs1684014413
NM_006063.3(KLHL41):c.73G>A (p.Asp25Asn)
NM_006063.3(KLHL41):c.73G>T (p.Asp25Tyr)
NM_006063.3(KLHL41):c.743T>C (p.Leu248Pro) rs1684014498
NM_006063.3(KLHL41):c.769G>C (p.Asp257His) rs916111973
NM_006063.3(KLHL41):c.784A>G (p.Lys262Glu) rs759037384
NM_006063.3(KLHL41):c.807T>A (p.Asn269Lys) rs1684016282
NM_006063.3(KLHL41):c.869G>A (p.Gly290Asp)
NM_006063.3(KLHL41):c.869G>C (p.Gly290Ala)
NM_006063.3(KLHL41):c.931G>A (p.Asp311Asn)
NM_006063.3(KLHL41):c.935C>T (p.Thr312Ile)
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) rs781536513
NM_006790.3(MYOT):c.1006G>C (p.Val336Leu)
NM_006790.3(MYOT):c.1024+5G>A
NM_006790.3(MYOT):c.107_110del (p.Lys36fs) rs398124238
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln) rs755615381
NM_006790.3(MYOT):c.1086G>C (p.Glu362Asp)
NM_006790.3(MYOT):c.1113G>C (p.Gln371His)
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)
NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr)
NM_006790.3(MYOT):c.1126C>G (p.Pro376Ala)
NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr)
NM_006790.3(MYOT):c.1142T>C (p.Phe381Ser)
NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter)
NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser)
NM_006790.3(MYOT):c.118A>G (p.Ile40Val)
NM_006790.3(MYOT):c.1202A>G (p.Asp401Gly)
NM_006790.3(MYOT):c.1208C>T (p.Thr403Ile)
NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln)
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) rs2149990334
NM_006790.3(MYOT):c.1291G>A (p.Val431Met) rs756306645
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys)
NM_006790.3(MYOT):c.1318G>A (p.Val440Ile)
NM_006790.3(MYOT):c.1322C>T (p.Thr441Met)
NM_006790.3(MYOT):c.1323G>A (p.Thr441=)
NM_006790.3(MYOT):c.1325-1G>A
NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly)
NM_006790.3(MYOT):c.1328G>A (p.Arg443His)
NM_006790.3(MYOT):c.134G>A (p.Arg45His)
NM_006790.3(MYOT):c.134G>T (p.Arg45Leu) rs1358850010
NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)
NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro) rs141801816
NM_006790.3(MYOT):c.1366G>A (p.Val456Ile)
NM_006790.3(MYOT):c.1369C>A (p.Arg457=)
NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)
NM_006790.3(MYOT):c.137A>G (p.Gln46Arg)
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu) rs2149978825
NM_006790.3(MYOT):c.1391_1398del (p.Tyr463_Leu464insTer)
NM_006790.3(MYOT):c.1392A>T (p.Leu464Phe)
NM_006790.3(MYOT):c.1396C>T (p.Leu466Phe)
NM_006790.3(MYOT):c.13G>A (p.Glu5Lys)
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala) rs149213350
NM_006790.3(MYOT):c.1417dup (p.Val473fs)
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) rs748921791
NM_006790.3(MYOT):c.1424A>C (p.Gln475Pro)
NM_006790.3(MYOT):c.1439_1441del (p.Glu480del)
NM_006790.3(MYOT):c.143C>G (p.Thr48Arg)
NM_006790.3(MYOT):c.1454G>A (p.Arg485His)
NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu)
NM_006790.3(MYOT):c.145G>C (p.Glu49Gln) rs199760778
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp) rs1309789504
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly) rs2149978850
NM_006790.3(MYOT):c.16C>G (p.Arg6Gly)
NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)
NM_006790.3(MYOT):c.176G>A (p.Ser59Asn)
NM_006790.3(MYOT):c.188C>T (p.Thr63Ile)
NM_006790.3(MYOT):c.1A>T (p.Met1Leu) rs1561657261
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
NM_006790.3(MYOT):c.239A>G (p.Asn80Ser)
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser) rs886044687
NM_006790.3(MYOT):c.257C>A (p.Thr86Lys) rs1205992276
NM_006790.3(MYOT):c.298A>G (p.Ile100Val) rs1423966332
NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)
NM_006790.3(MYOT):c.32T>C (p.Ile11Thr)
NM_006790.3(MYOT):c.364C>T (p.Gln122Ter)
NM_006790.3(MYOT):c.387A>G (p.Ile129Met) rs1554102960
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser) rs1554102961
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
NM_006790.3(MYOT):c.427C>T (p.Pro143Ser)
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser) rs1755197357
NM_006790.3(MYOT):c.473T>C (p.Ile158Thr)
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln) rs1214787397
NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)
NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr)
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) rs2149978722
NM_006790.3(MYOT):c.524G>T (p.Gly175Val)
NM_006790.3(MYOT):c.532C>T (p.Arg178Cys)
NM_006790.3(MYOT):c.533G>T (p.Arg178Leu)
NM_006790.3(MYOT):c.53G>T (p.Gly18Val)
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) rs2149983161
NM_006790.3(MYOT):c.562del (p.Arg188fs)
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile) rs370165036
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu) rs1561660796
NM_006790.3(MYOT):c.614G>C (p.Ser205Thr)
NM_006790.3(MYOT):c.61T>A (p.Leu21Met)
NM_006790.3(MYOT):c.653C>A (p.Ala218Glu) rs533510304
NM_006790.3(MYOT):c.653C>T (p.Ala218Val)
NM_006790.3(MYOT):c.667C>T (p.Pro223Ser)
NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr) rs751876756
NM_006790.3(MYOT):c.67C>T (p.Pro23Ser) rs751876756
NM_006790.3(MYOT):c.680_683del (p.Val227fs) rs775014749
NM_006790.3(MYOT):c.683+1G>C rs2149985981
NM_006790.3(MYOT):c.684-3T>C
NM_006790.3(MYOT):c.685A>G (p.Ser229Gly)
NM_006790.3(MYOT):c.691T>C (p.Ser231Pro)
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) rs1755447825
NM_006790.3(MYOT):c.709G>A (p.Val237Met)
NM_006790.3(MYOT):c.725C>T (p.Ala242Val)
NM_006790.3(MYOT):c.740T>G (p.Phe247Cys)
NM_006790.3(MYOT):c.776T>G (p.Met259Arg)
NM_006790.3(MYOT):c.784G>C (p.Asp262His) rs1271782226
NM_006790.3(MYOT):c.808G>C (p.Asp270His) rs1561663452
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr)
NM_006790.3(MYOT):c.83C>T (p.Thr28Ile) rs767662244
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
NM_006790.3(MYOT):c.86C>T (p.Ser29Phe) rs1580847200
NM_006790.3(MYOT):c.884T>G (p.Leu295Trp)
NM_006790.3(MYOT):c.935T>C (p.Val312Ala)
NM_006790.3(MYOT):c.937G>A (p.Val313Ile) rs760955035
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu) rs753927065
NM_006790.3(MYOT):c.956G>C (p.Gly319Ala) rs1330407694
NM_006790.3(MYOT):c.959C>T (p.Ala320Val) rs2149988068
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) rs2149988081
NM_006790.3(MYOT):c.983G>A (p.Arg328Lys)
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile) rs1554102559
NM_007078.2(LDB3):c.-23-?_93+?dup
NM_007078.3(LDB3):c.101C>G (p.Pro34Arg)
NM_007078.3(LDB3):c.1023C>T (p.Ala341=)
NM_007078.3(LDB3):c.1027A>G (p.Thr343Ala)
NM_007078.3(LDB3):c.1028C>T (p.Thr343Ile)
NM_007078.3(LDB3):c.1045_1050dup (p.Ser349_Thr350dup) rs1276121533
NM_007078.3(LDB3):c.1069C>T (p.Pro357Ser)
NM_007078.3(LDB3):c.1074C>A (p.Ala358=) rs45459491
NM_007078.3(LDB3):c.1086-12G>C
NM_007078.3(LDB3):c.1088C>G (p.Pro363Arg)
NM_007078.3(LDB3):c.108C>G (p.Ser36Arg) rs2132360019
NM_007078.3(LDB3):c.10A>C (p.Ser4Arg) rs727505295
NM_007078.3(LDB3):c.110A>G (p.Lys37Arg)
NM_007078.3(LDB3):c.110A>T (p.Lys37Met) rs2132360031
NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)
NM_007078.3(LDB3):c.1121C>T (p.Ala374Val) rs1554860812
NM_007078.3(LDB3):c.1134T>C (p.Pro378=)
NM_007078.3(LDB3):c.1150T>A (p.Tyr384Asn) rs1554860857
NM_007078.3(LDB3):c.1156G>A (p.Glu386Lys)
NM_007078.3(LDB3):c.115G>C (p.Ala39Pro) rs1844983837
NM_007078.3(LDB3):c.1161C>T (p.Gly387=)
NM_007078.3(LDB3):c.1184C>T (p.Pro395Leu) rs2132466193
NM_007078.3(LDB3):c.1186C>A (p.Arg396=)
NM_007078.3(LDB3):c.1186C>G (p.Arg396Gly)
NM_007078.3(LDB3):c.1187G>A (p.Arg396Gln)
NM_007078.3(LDB3):c.1206C>T (p.Ser402=)
NM_007078.3(LDB3):c.1211G>T (p.Arg404Leu)
NM_007078.3(LDB3):c.1219_1222del (p.Val407fs)
NM_007078.3(LDB3):c.1231+12A>G
NM_007078.3(LDB3):c.1231+14dup
NM_007078.3(LDB3):c.1231+4A>C rs2132466323
NM_007078.3(LDB3):c.1231+6_1231+7delinsGC rs2132466334
NM_007078.3(LDB3):c.1231+8del
NM_007078.3(LDB3):c.1231G>C (p.Val411Leu) rs1846585105
NM_007078.3(LDB3):c.1232-11G>T
NM_007078.3(LDB3):c.1232-19T>G
NM_007078.3(LDB3):c.1232-6_1232-5delinsGG
NM_007078.3(LDB3):c.1234C>G (p.Pro412Ala)
NM_007078.3(LDB3):c.1234C>T (p.Pro412Ser)
NM_007078.3(LDB3):c.1243A>T (p.Thr415Ser) rs2132481387
NM_007078.3(LDB3):c.1248C>T (p.Tyr416=)
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu) rs141870580
NM_007078.3(LDB3):c.1287C>T (p.Tyr429=)
NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser) rs746183666
NM_007078.3(LDB3):c.1289C>T (p.Thr430Ile) rs746183666
NM_007078.3(LDB3):c.1294del (p.Ser432fs) rs756413215
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3]) rs397517209
NM_007078.3(LDB3):c.1297C>A (p.Pro433Thr)
NM_007078.3(LDB3):c.1310A>G (p.Tyr437Cys)
NM_007078.3(LDB3):c.1313C>G (p.Thr438Ser) rs767914340
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val) rs786205349
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
NM_007078.3(LDB3):c.1328C>T (p.Pro443Leu) rs1554863327
NM_007078.3(LDB3):c.1336A>G (p.Thr446Ala)
NM_007078.3(LDB3):c.1337C>A (p.Thr446Asn)
NM_007078.3(LDB3):c.1337C>T (p.Thr446Ile) rs200476126
NM_007078.3(LDB3):c.1341C>G (p.Pro447=)
NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala) rs1589674758
NM_007078.3(LDB3):c.1361C>T (p.Thr454Ile) rs780337957
NM_007078.3(LDB3):c.1369C>T (p.Pro457Ser)
NM_007078.3(LDB3):c.1370C>T (p.Pro457Leu)
NM_007078.3(LDB3):c.1379C>T (p.Ala460Val)
NM_007078.3(LDB3):c.1387C>T (p.Pro463Ser)
NM_007078.3(LDB3):c.1388C>A (p.Pro463His)
NM_007078.3(LDB3):c.1396G>A (p.Ala466Thr)
NM_007078.3(LDB3):c.1407_1408dup (p.Asn470fs)
NM_007078.3(LDB3):c.1414G>C (p.Ala472Pro) rs546736974
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser) rs1222316982
NM_007078.3(LDB3):c.1439dup (p.Ala482fs) rs2132482311
NM_007078.3(LDB3):c.1445C>G (p.Ala482Gly)
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val) rs774313535
NM_007078.3(LDB3):c.1446_1454del (p.Glu483_Ala485del) rs1398383245
NM_007078.3(LDB3):c.1457dup (p.Ser486fs) rs1846883652
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys) rs950395877
NM_007078.3(LDB3):c.145G>A (p.Val49Met) rs200645175
NM_007078.3(LDB3):c.145G>C (p.Val49Leu) rs200645175
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg) rs1589675054
NM_007078.3(LDB3):c.1471G>A (p.Val491Met) rs397517215
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu) rs397517215
NM_007078.3(LDB3):c.1483A>G (p.Ser495Gly) rs2132482506
NM_007078.3(LDB3):c.1497G>C (p.Lys499Asn) rs1278770988
NM_007078.3(LDB3):c.149T>C (p.Val50Ala) rs1844986603
NM_007078.3(LDB3):c.1505C>T (p.Pro502Leu) rs528611881
NM_007078.3(LDB3):c.1508G>A (p.Gly503Asp) rs777459539
NM_007078.3(LDB3):c.152C>T (p.Ala51Val)
NM_007078.3(LDB3):c.1535A>G (p.Gln512Arg) rs138951890
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn) rs748433510
NM_007078.3(LDB3):c.1538C>T (p.Thr513Ile) rs748433510
NM_007078.3(LDB3):c.1543C>T (p.Pro515Ser)
NM_007078.3(LDB3):c.1547G>T (p.Arg516Leu)
NM_007078.3(LDB3):c.1565C>A (p.Thr522Asn) rs1846888303
NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile) rs1846888303
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala) rs794729062
NM_007078.3(LDB3):c.1570G>A (p.Ala524Thr)
NM_007078.3(LDB3):c.1574G>C (p.Gly525Ala)
NM_007078.3(LDB3):c.157G>A (p.Asp53Asn) rs2132360328
NM_007078.3(LDB3):c.1591C>G (p.Leu531Val) rs2132482794
NM_007078.3(LDB3):c.1599G>C (p.Arg533Ser) rs1846890284
NM_007078.3(LDB3):c.1601_1602dup (p.Thr535fs) rs1846890164
NM_007078.3(LDB3):c.1602_1603insTGCCAC (p.Gly534_Thr535insCysHis)
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer) rs1589675306
NM_007078.3(LDB3):c.1604C>T (p.Thr535Ile)
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) rs727503128
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.160G>C (p.Gly54Arg) rs201786090
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter) rs1004518756
NM_007078.3(LDB3):c.1622G>A (p.Arg541Gln)
NM_007078.3(LDB3):c.1631C>A (p.Ala544Asp) rs1265432173
NM_007078.3(LDB3):c.1647A>G (p.Pro549=)
NM_007078.3(LDB3):c.1649T>C (p.Leu550Pro) rs1589675409
NM_007078.3(LDB3):c.1653C>A (p.Cys551Ter) rs45581435
NM_007078.3(LDB3):c.1654G>T (p.Gly552Cys) rs771007816
NM_007078.3(LDB3):c.1671C>T (p.Val557=)
NM_007078.3(LDB3):c.1676G>T (p.Arg559Leu)
NM_007078.3(LDB3):c.1677-18C>T
NM_007078.3(LDB3):c.1677G>A (p.Arg559=) rs1846936388
NM_007078.3(LDB3):c.1679G>T (p.Gly560Val)
NM_007078.3(LDB3):c.167A>G (p.Asn56Ser) rs751482077
NM_007078.3(LDB3):c.1689G>T (p.Leu563=)
NM_007078.3(LDB3):c.1700G>A (p.Gly567Asp) rs2132485348
NM_007078.3(LDB3):c.1702C>A (p.Arg568Ser)
NM_007078.3(LDB3):c.1702C>T (p.Arg568Cys)
NM_007078.3(LDB3):c.1711C>A (p.His571Asn) rs777095535
NM_007078.3(LDB3):c.1714C>T (p.Pro572Ser)
NM_007078.3(LDB3):c.1725C>T (p.Phe575=)
NM_007078.3(LDB3):c.1741A>C (p.Lys581Gln) rs751506530
NM_007078.3(LDB3):c.1745C>T (p.Thr582Ile)
NM_007078.3(LDB3):c.1752G>C (p.Leu584=) rs1589676711
NM_007078.3(LDB3):c.175A>G (p.Thr59Ala)
NM_007078.3(LDB3):c.1760T>C (p.Val587Ala)
NM_007078.3(LDB3):c.1763G>A (p.Cys588Tyr) rs1449207508
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
NM_007078.3(LDB3):c.1777C>A (p.Gln593Lys) rs2132485566
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro) rs747523570
NM_007078.3(LDB3):c.1806T>A (p.Tyr602Ter) rs2132485699
NM_007078.3(LDB3):c.1812A>G (p.Gln604=) rs1846942056
NM_007078.3(LDB3):c.1824_1825delinsAA (p.Leu609Met) rs2132485761
NM_007078.3(LDB3):c.1827G>C (p.Leu609=)
NM_007078.3(LDB3):c.1835A>G (p.Lys612Arg)
NM_007078.3(LDB3):c.1835A>T (p.Lys612Met)
NM_007078.3(LDB3):c.1845C>T (p.Thr615=)
NM_007078.3(LDB3):c.184C>T (p.His62Tyr) rs779234633
NM_007078.3(LDB3):c.1857+16C>T
NM_007078.3(LDB3):c.1857+3A>G rs367942602
NM_007078.3(LDB3):c.1857+6T>C rs2132485825
NM_007078.3(LDB3):c.1857G>T (p.Gly619=)
NM_007078.3(LDB3):c.1858-15G>A
NM_007078.3(LDB3):c.1858-3C>A rs748601174
NM_007078.3(LDB3):c.1858-6C>T rs2132487012
NM_007078.3(LDB3):c.1864A>T (p.Met622Leu)
NM_007078.3(LDB3):c.1867C>A (p.His623Asn)
NM_007078.3(LDB3):c.1888C>A (p.His630Asn) rs2132487146
NM_007078.3(LDB3):c.1895C>G (p.Thr632Ser) rs1195333947
NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)
NM_007078.3(LDB3):c.1902C>A (p.Phe634Leu) rs773904344
NM_007078.3(LDB3):c.1903G>C (p.Val635Leu) rs45618633
NM_007078.3(LDB3):c.1904T>A (p.Val635Asp) rs567014755
NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr) rs397517218
NM_007078.3(LDB3):c.1935C>G (p.Asn645Lys) rs1846970016
NM_007078.3(LDB3):c.1939C>G (p.Leu647Val)
NM_007078.3(LDB3):c.1954G>C (p.Asp652His)
NM_007078.3(LDB3):c.1957G>A (p.Gly653Arg)
NM_007078.3(LDB3):c.1957G>C (p.Gly653Arg) rs149945820
NM_007078.3(LDB3):c.1968C>A (p.Tyr656Ter) rs2132487443
NM_007078.3(LDB3):c.196C>T (p.Gln66Ter) rs1554849100
NM_007078.3(LDB3):c.1978+13C>T
NM_007078.3(LDB3):c.1978+17G>A
NM_007078.3(LDB3):c.1978+2_1978+5del rs1554864768
NM_007078.3(LDB3):c.1978+6A>G rs1846973492
NM_007078.3(LDB3):c.1979-20C>T
NM_007078.3(LDB3):c.1979-7A>C
NM_007078.3(LDB3):c.1985T>A (p.Ile662Asn) rs2132503371
NM_007078.3(LDB3):c.1990C>T (p.Leu664=)
NM_007078.3(LDB3):c.2008C>T (p.His670Tyr)
NM_007078.3(LDB3):c.2027del (p.Val676fs) rs2132503498
NM_007078.3(LDB3):c.2031G>T (p.Glu677Asp)
NM_007078.3(LDB3):c.2055C>T (p.Ala685=)
NM_007078.3(LDB3):c.2062C>T (p.His688Tyr)
NM_007078.3(LDB3):c.2066C>G (p.Thr689Ser) rs1847250272
NM_007078.3(LDB3):c.2085C>T (p.Phe695=)
NM_007078.3(LDB3):c.2092G>T (p.Ala698Ser) rs45577134
NM_007078.3(LDB3):c.2094+3A>G rs1847251626
NM_007078.3(LDB3):c.2094+4T>A
NM_007078.3(LDB3):c.2104G>T (p.Val702Leu) rs773235586
NM_007078.3(LDB3):c.2108A>C (p.Asn703Thr)
NM_007078.3(LDB3):c.2108A>G (p.Asn703Ser)
NM_007078.3(LDB3):c.2109T>A (p.Asn703Lys)
NM_007078.3(LDB3):c.2110C>A (p.Leu704Met)
NM_007078.3(LDB3):c.2119C>G (p.Gln707Glu)
NM_007078.3(LDB3):c.211T>G (p.Ser71Ala)
NM_007078.3(LDB3):c.2128T>C (p.Tyr710His) rs1847526825
NM_007078.3(LDB3):c.212C>G (p.Ser71Cys) rs772249948
NM_007078.3(LDB3):c.2134AAG[1] (p.Lys713del)
NM_007078.3(LDB3):c.2136del (p.Lys713fs) rs1847527465
NM_007078.3(LDB3):c.2137A>G (p.Lys713Glu)
NM_007078.3(LDB3):c.2147C>A (p.Pro716His)
NM_007078.3(LDB3):c.2147C>T (p.Pro716Leu)
NM_007078.3(LDB3):c.2150T>G (p.Leu717Arg) rs753237785
NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln) rs397517220
NM_007078.3(LDB3):c.2164G>T (p.Ala722Ser)
NM_007078.3(LDB3):c.2167C>T (p.His723Tyr)
NM_007078.3(LDB3):c.2173A>C (p.Ile725Leu) rs1554870749
NM_007078.3(LDB3):c.2173A>G (p.Ile725Val) rs1554870749
NM_007078.3(LDB3):c.2174T>C (p.Ile725Thr) rs748399477
NM_007078.3(LDB3):c.2175C>T (p.Ile725=)
NM_007078.3(LDB3):c.2177A>G (p.Asn726Ser) rs1335747231
NM_007078.3(LDB3):c.2180T>C (p.Leu727Ser)
NM_007078.3(LDB3):c.218G>A (p.Ser73Asn)
NM_007078.3(LDB3):c.23C>A (p.Thr8Asn) rs1060501317
NM_007078.3(LDB3):c.242del (p.Gln81fs) rs1554849133
NM_007078.3(LDB3):c.246-11G>A
NM_007078.3(LDB3):c.246-1G>A
NM_007078.3(LDB3):c.246-3C>T
NM_007078.3(LDB3):c.256C>T (p.Pro86Ser)
NM_007078.3(LDB3):c.269C>T (p.Ser90Phe)
NM_007078.3(LDB3):c.287T>C (p.Val96Ala) rs794729056
NM_007078.3(LDB3):c.289dup (p.Gln97fs) rs2132363722
NM_007078.3(LDB3):c.290A>G (p.Gln97Arg) rs762580653
NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)
NM_007078.3(LDB3):c.299T>C (p.Leu100Pro)
NM_007078.3(LDB3):c.304G>A (p.Val102Met) rs1845031056
NM_007078.3(LDB3):c.319A>T (p.Lys107Ter) rs2132363967
NM_007078.3(LDB3):c.31G>T (p.Gly11Trp)
NM_007078.3(LDB3):c.327del (p.Ala110fs)
NM_007078.3(LDB3):c.329C>T (p.Ala110Val) rs1204980784
NM_007078.3(LDB3):c.359C>A (p.Pro120His) rs1365965245
NM_007078.3(LDB3):c.377C>T (p.Ala126Val)
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1]) rs750334087
NM_007078.3(LDB3):c.398_454dup (p.Ala151_Phe152insSerGlyThrProGluLeuArgProThrPheSerProAlaPheSerArgProSerAla)
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu) rs2132371597
NM_007078.3(LDB3):c.456CTC[1] (p.Ser154del)
NM_007078.3(LDB3):c.466G>C (p.Ala156Pro) rs200596619
NM_007078.3(LDB3):c.469G>A (p.Glu157Lys) rs770678454
NM_007078.3(LDB3):c.46C>T (p.Arg16Cys)
NM_007078.3(LDB3):c.472G>T (p.Ala158Ser)
NM_007078.3(LDB3):c.473C>T (p.Ala158Val)
NM_007078.3(LDB3):c.494G>T (p.Arg165Leu) rs61857115
NM_007078.3(LDB3):c.4T>A (p.Ser2Thr) rs1564626023
NM_007078.3(LDB3):c.50T>C (p.Leu17Pro) rs2132320405
NM_007078.3(LDB3):c.525G>C (p.Glu175Asp) rs757099637
NM_007078.3(LDB3):c.526G>A (p.Gly176Arg) rs149167391
NM_007078.3(LDB3):c.529del (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.529dup (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.532C>T (p.Arg178Trp) rs730880128
NM_007078.3(LDB3):c.544G>A (p.Gly182Ser)
NM_007078.3(LDB3):c.545G>A (p.Gly182Asp) rs2132372366
NM_007078.3(LDB3):c.55G>A (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.55G>T (p.Gly19Trp) rs777413488
NM_007078.3(LDB3):c.567_568delinsTT (p.Ser190Cys) rs2132372538
NM_007078.3(LDB3):c.56G>A (p.Gly19Glu) rs753314972
NM_007078.3(LDB3):c.575C>G (p.Pro192Arg) rs758182278
NM_007078.3(LDB3):c.58G>A (p.Gly20Ser)
NM_007078.3(LDB3):c.59G>A (p.Gly20Asp) rs1844291597
NM_007078.3(LDB3):c.614A>C (p.Glu205Ala)
NM_007078.3(LDB3):c.626A>T (p.Glu209Val) rs1845153117
NM_007078.3(LDB3):c.662A>G (p.Lys221Arg)
NM_007078.3(LDB3):c.680T>A (p.Leu227His) rs888143005
NM_007078.3(LDB3):c.685G>A (p.Gly229Arg) rs1383872346
NM_007078.3(LDB3):c.686G>C (p.Gly229Ala) rs1131691665
NM_007078.3(LDB3):c.690-2A>G rs1060501315
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_007078.3(LDB3):c.690-4618C>T
NM_007078.3(LDB3):c.690-4619G>A
NM_007078.3(LDB3):c.690-4619_690-4618delinsTA rs1060501314
NM_007078.3(LDB3):c.690-4621A>T rs370053163
NM_007078.3(LDB3):c.690-4830C>A rs2132396540
NM_007078.3(LDB3):c.701T>C (p.Ile234Thr)
NM_007078.3(LDB3):c.706G>C (p.Asp236His)
NM_007078.3(LDB3):c.721A>G (p.Ser241Gly)
NM_007078.3(LDB3):c.722G>A (p.Ser241Asn)
NM_007078.3(LDB3):c.730C>G (p.Pro244Ala) rs1205511323
NM_007078.3(LDB3):c.732C>G (p.Pro244=)
NM_007078.3(LDB3):c.74T>C (p.Met25Thr)
NM_007078.3(LDB3):c.763A>G (p.Lys255Glu)
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser) rs778865072
NM_007078.3(LDB3):c.785_818dup (p.Ser274fs)
NM_007078.3(LDB3):c.797G>A (p.Arg266His)
NM_007078.3(LDB3):c.805A>C (p.Asn269His) rs1367297073
NM_007078.3(LDB3):c.806A>G (p.Asn269Ser) rs1307504553
NM_007078.3(LDB3):c.80T>C (p.Leu27Pro) rs1057517864
NM_007078.3(LDB3):c.815C>T (p.Ser272Phe)
NM_007078.3(LDB3):c.833T>G (p.Leu278Arg) rs1845789692
NM_007078.3(LDB3):c.836C>G (p.Ala279Gly) rs2132415804
NM_007078.3(LDB3):c.859+20G>A
NM_007078.3(LDB3):c.860-22_860-12del rs727504602
NM_007078.3(LDB3):c.860-3C>T
NM_007078.3(LDB3):c.860-6C>G
NM_007078.3(LDB3):c.868C>A (p.Pro290Thr)
NM_007078.3(LDB3):c.878A>C (p.Glu293Ala) rs1288594486
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter) rs1060501316
NM_007078.3(LDB3):c.891G>T (p.Arg297Ser) rs374336814
NM_007078.3(LDB3):c.892T>C (p.Ser298Pro) rs953198544
NM_007078.3(LDB3):c.897-6759C>G rs11594242
NM_007078.3(LDB3):c.897-7T>A rs1846448550
NM_007078.3(LDB3):c.897C>T (p.Ser299=)
NM_007078.3(LDB3):c.89C>A (p.Ser30Tyr) rs1844293917
NM_007078.3(LDB3):c.89C>G (p.Ser30Cys)
NM_007078.3(LDB3):c.913G>C (p.Ala305Pro) rs573547650
NM_007078.3(LDB3):c.914C>T (p.Ala305Val)
NM_007078.3(LDB3):c.915G>A (p.Ala305=) rs753526743
NM_007078.3(LDB3):c.91C>G (p.Arg31Gly) rs367792378
NM_007078.3(LDB3):c.923G>C (p.Cys308Ser)
NM_007078.3(LDB3):c.928A>G (p.Ser310Gly)
NM_007078.3(LDB3):c.92G>A (p.Arg31Gln) rs1410128172
NM_007078.3(LDB3):c.93+1G>T rs727505066
NM_007078.3(LDB3):c.930C>A (p.Ser310Arg)
NM_007078.3(LDB3):c.932A>C (p.Gln311Pro)
NM_007078.3(LDB3):c.934G>A (p.Ala312Thr)
NM_007078.3(LDB3):c.937A>C (p.Thr313Pro) rs1310203563
NM_007078.3(LDB3):c.937A>G (p.Thr313Ala)
NM_007078.3(LDB3):c.93G>A (p.Arg31=) rs1564626245
NM_007078.3(LDB3):c.941C>T (p.Thr314Ile)
NM_007078.3(LDB3):c.94A>G (p.Ile32Val)
NM_007078.3(LDB3):c.953C>A (p.Pro318His) rs1846452720
NM_007078.3(LDB3):c.960T>C (p.Ser320=)
NM_007078.3(LDB3):c.961G>A (p.Ala321Thr)
NM_007078.3(LDB3):c.990T>C (p.Ser330=)
NM_007078.3(LDB3):c.998C>T (p.Ser333Leu) rs1458557837
NM_007078.3(LDB3):c.99dup (p.Pro34fs) rs1554849000
NM_017534.6(MYH2):c.1008+4A>C
NM_017534.6(MYH2):c.1024T>G (p.Leu342Val) rs753710050
NM_017534.6(MYH2):c.1078A>T (p.Met360Leu) rs201434968
NM_017534.6(MYH2):c.1081C>A (p.His361Asn) rs752699239
NM_017534.6(MYH2):c.1114C>T (p.Arg372Cys)
NM_017534.6(MYH2):c.1195C>T (p.Leu399Phe)
NM_017534.6(MYH2):c.1241T>C (p.Val414Ala) rs2073524537
NM_017534.6(MYH2):c.1266+5G>C rs758217131
NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys) rs151000841
NM_017534.6(MYH2):c.1297G>C (p.Ala433Pro)
NM_017534.6(MYH2):c.1311G>C (p.Lys437Asn) rs2142313163
NM_017534.6(MYH2):c.1316_1321del (p.Phe439_Leu440del) rs2073521807
NM_017534.6(MYH2):c.1334G>T (p.Arg445Leu) rs201040489
NM_017534.6(MYH2):c.1358A>G (p.Lys453Arg) rs1555571482
NM_017534.6(MYH2):c.1360C>A (p.Gln454Lys)
NM_017534.6(MYH2):c.1360C>G (p.Gln454Glu)
NM_017534.6(MYH2):c.137C>A (p.Ser46Tyr)
NM_017534.6(MYH2):c.1385T>C (p.Val462Ala) rs2142313049
NM_017534.6(MYH2):c.1391A>G (p.Asp464Gly)
NM_017534.6(MYH2):c.139T>C (p.Phe47Leu)
NM_017534.6(MYH2):c.1416+3G>C rs1242041194
NM_017534.6(MYH2):c.1441A>G (p.Ile481Val) rs2142311275
NM_017534.6(MYH2):c.1444A>T (p.Asn482Tyr) rs886052570
NM_017534.6(MYH2):c.1477A>C (p.Asn493His)
NM_017534.6(MYH2):c.1493T>C (p.Val498Ala) rs1567733956
NM_017534.6(MYH2):c.1504GAG[1] (p.Glu503del)
NM_017534.6(MYH2):c.1507G>C (p.Glu503Gln) rs865974946
NM_017534.6(MYH2):c.1516A>G (p.Lys506Glu)
NM_017534.6(MYH2):c.1526T>A (p.Ile509Asn)
NM_017534.6(MYH2):c.1528G>C (p.Glu510Gln) rs772963819
NM_017534.6(MYH2):c.1538T>G (p.Phe513Cys)
NM_017534.6(MYH2):c.1549G>A (p.Gly517Arg)
NM_017534.6(MYH2):c.1562C>T (p.Ala521Val)
NM_017534.6(MYH2):c.1573G>A (p.Glu525Lys) rs2142311074
NM_017534.6(MYH2):c.1588-3T>C
NM_017534.6(MYH2):c.1595G>A (p.Gly532Asp)
NM_017534.6(MYH2):c.1615GAG[3] (p.Glu540_Cys541insGlu)
NM_017534.6(MYH2):c.1622G>A (p.Cys541Tyr)
NM_017534.6(MYH2):c.1624A>G (p.Met542Val)
NM_017534.6(MYH2):c.1640C>T (p.Thr547Ile)
NM_017534.6(MYH2):c.1646C>A (p.Thr549Asn) rs1160867842
NM_017534.6(MYH2):c.1646CCT[3] (p.Ser550dup) rs2073495820
NM_017534.6(MYH2):c.1673A>T (p.Gln558Leu) rs2073495432
NM_017534.6(MYH2):c.1691C>A (p.Ala564Asp)
NM_017534.6(MYH2):c.1695C>A (p.Asn565Lys) rs771444036
NM_017534.6(MYH2):c.1700A>C (p.Gln567Pro)
NM_017534.6(MYH2):c.1705C>T (p.Pro569Ser) rs1567733741
NM_017534.6(MYH2):c.1737C>G (p.His579Gln) rs2073494382
NM_017534.6(MYH2):c.1750C>A (p.His584Asn)
NM_017534.6(MYH2):c.1758T>A (p.Ala586=) rs2073493923
NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys) rs763994556
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys) rs1555571267
NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)
NM_017534.6(MYH2):c.1822G>A (p.Val608Met)
NM_017534.6(MYH2):c.1825G>A (p.Val609Ile)
NM_017534.6(MYH2):c.1847C>G (p.Ala616Gly)
NM_017534.6(MYH2):c.184G>C (p.Val62Leu)
NM_017534.6(MYH2):c.1898-6C>T
NM_017534.6(MYH2):c.1901G>C (p.Gly634Ala) rs770538729
NM_017534.6(MYH2):c.1901_1902inv (p.Gly634Val)
NM_017534.6(MYH2):c.1930AAG[2] (p.Lys646del) rs2142309594
NM_017534.6(MYH2):c.2000A>G (p.Asn667Ser) rs750604697
NM_017534.6(MYH2):c.2020C>T (p.His674Tyr) rs1555571125
NM_017534.6(MYH2):c.204+4A>G
NM_017534.6(MYH2):c.2059C>T (p.Pro687Ser) rs2073469870
NM_017534.6(MYH2):c.2061T>C (p.Pro687=) rs2073469824
NM_017534.6(MYH2):c.2063-9C>G
NM_017534.6(MYH2):c.2066C>T (p.Ala689Val)
NM_017534.6(MYH2):c.2074C>T (p.His692Tyr)
NM_017534.6(MYH2):c.2102G>T (p.Cys701Phe) rs1259249860
NM_017534.6(MYH2):c.2125C>G (p.Arg709Gly)
NM_017534.6(MYH2):c.2126G>A (p.Arg709His) rs369618095
NM_017534.6(MYH2):c.2153G>T (p.Arg718Ile) rs2073467818
NM_017534.6(MYH2):c.2197G>A (p.Ala733Thr)
NM_017534.6(MYH2):c.2210C>A (p.Pro737His)
NM_017534.6(MYH2):c.2242T>G (p.Ser748Ala)
NM_017534.6(MYH2):c.2264T>C (p.Ile755Thr) rs1167250510
NM_017534.6(MYH2):c.2305-3C>T
NM_017534.6(MYH2):c.2343G>C (p.Glu781Asp)
NM_017534.6(MYH2):c.2346G>A (p.Met782Ile) rs2142305497
NM_017534.6(MYH2):c.2352T>A (p.Asp784Glu)
NM_017534.6(MYH2):c.2355C>A (p.Asp785Glu) rs1392938142
NM_017534.6(MYH2):c.2383C>A (p.Gln795Lys)
NM_017534.6(MYH2):c.2393G>A (p.Cys798Tyr)
NM_017534.6(MYH2):c.2396G>A (p.Arg799Lys)
NM_017534.6(MYH2):c.2396G>C (p.Arg799Thr) rs754150715
NM_017534.6(MYH2):c.2398G>C (p.Gly800Arg)
NM_017534.6(MYH2):c.2399G>C (p.Gly800Ala) rs1270329583
NM_017534.6(MYH2):c.2422C>G (p.Gln808Glu)
NM_017534.6(MYH2):c.2435A>G (p.Glu812Gly) rs1597452607
NM_017534.6(MYH2):c.2441+4T>A
NM_017534.6(MYH2):c.2442-12A>G
NM_017534.6(MYH2):c.2459_2467dup (p.Ile820_Tyr822dup) rs2073428547
NM_017534.6(MYH2):c.2467A>G (p.Asn823Asp) rs2073428486
NM_017534.6(MYH2):c.2471T>C (p.Ile824Thr)
NM_017534.6(MYH2):c.2501C>T (p.Pro834Leu) rs915946647
NM_017534.6(MYH2):c.2518T>C (p.Phe840Leu) rs1242325182
NM_017534.6(MYH2):c.2529G>C (p.Lys843Asn) rs2142303448
NM_017534.6(MYH2):c.2530C>A (p.Pro844Thr) rs1328752239
NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)
NM_017534.6(MYH2):c.254A>G (p.Tyr85Cys)
NM_017534.6(MYH2):c.2560G>C (p.Glu854Gln)
NM_017534.6(MYH2):c.2564T>A (p.Met855Lys)
NM_017534.6(MYH2):c.256G>A (p.Asp86Asn) rs1567738501
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val) rs1567731278
NM_017534.6(MYH2):c.2620G>T (p.Ala874Ser)
NM_017534.6(MYH2):c.2634A>C (p.Glu878Asp) rs757290160
NM_017534.6(MYH2):c.2642A>G (p.Glu881Gly)
NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)
NM_017534.6(MYH2):c.2669A>T (p.Lys890Ile)
NM_017534.6(MYH2):c.2674G>A (p.Asp892Asn)
NM_017534.6(MYH2):c.2698-3A>G
NM_017534.6(MYH2):c.2698G>A (p.Glu900Lys)
NM_017534.6(MYH2):c.2705A>G (p.Glu902Gly) rs2142301095
NM_017534.6(MYH2):c.2720C>G (p.Ala907Gly)
NM_017534.6(MYH2):c.2729G>T (p.Arg910Met) rs2073406829
NM_017534.6(MYH2):c.2750C>T (p.Thr917Ile)
NM_017534.6(MYH2):c.2768C>G (p.Ala923Gly)
NM_017534.6(MYH2):c.2775C>G (p.Ile925Met)
NM_017534.6(MYH2):c.277A>G (p.Met93Val)
NM_017534.6(MYH2):c.2785A>T (p.Thr929Ser) rs1555570593
NM_017534.6(MYH2):c.2831C>A (p.Ala944Asp) rs2142300910
NM_017534.6(MYH2):c.2833A>C (p.Lys945Gln)
NM_017534.6(MYH2):c.2840G>A (p.Arg947Lys) rs762535527
NM_017534.6(MYH2):c.2851G>A (p.Asp951Asn)
NM_017534.6(MYH2):c.2909T>C (p.Val970Ala)
NM_017534.6(MYH2):c.2923C>T (p.His975Tyr) rs754311300
NM_017534.6(MYH2):c.2948A>G (p.Asn983Ser) rs2073401948
NM_017534.6(MYH2):c.2969G>T (p.Gly990Val) rs1597451166
NM_017534.6(MYH2):c.2999A>C (p.Lys1000Thr) rs912210806
NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg) rs1324293373
NM_017534.6(MYH2):c.3026A>G (p.His1009Arg)
NM_017534.6(MYH2):c.3041A>G (p.Asp1014Gly)
NM_017534.6(MYH2):c.3074C>A (p.Thr1025Asn)
NM_017534.6(MYH2):c.3103CAA[1] (p.Gln1036del)
NM_017534.6(MYH2):c.3117T>C (p.Asp1039=) rs1158331976
NM_017534.6(MYH2):c.3136C>G (p.Gln1046Glu)
NM_017534.6(MYH2):c.3140A>G (p.Glu1047Gly) rs2073397644
NM_017534.6(MYH2):c.3154A>G (p.Met1052Val)
NM_017534.6(MYH2):c.3155T>C (p.Met1052Thr)
NM_017534.6(MYH2):c.3156G>A (p.Met1052Ile)
NM_017534.6(MYH2):c.3163G>A (p.Glu1055Lys)
NM_017534.6(MYH2):c.3174G>C (p.Lys1058Asn)
NM_017534.6(MYH2):c.3187G>T (p.Gly1063Cys)
NM_017534.6(MYH2):c.3188G>T (p.Gly1063Val)
NM_017534.6(MYH2):c.3203C>T (p.Ala1068Val) rs2073396657
NM_017534.6(MYH2):c.3212C>T (p.Ser1071Phe) rs2142299853
NM_017534.6(MYH2):c.3218T>C (p.Met1073Thr) rs1335497096
NM_017534.6(MYH2):c.3223A>C (p.Ile1075Leu)
NM_017534.6(MYH2):c.322G>A (p.Glu108Lys) rs1597459444
NM_017534.6(MYH2):c.3250G>A (p.Glu1084Lys) rs2142299795
NM_017534.6(MYH2):c.3269A>G (p.Glu1090Gly)
NM_017534.6(MYH2):c.3283A>C (p.Asn1095His)
NM_017534.6(MYH2):c.3289C>A (p.Gln1097Lys) rs2073393915
NM_017534.6(MYH2):c.3323T>C (p.Ile1108Thr)
NM_017534.6(MYH2):c.3331C>A (p.Gln1111Lys)
NM_017534.6(MYH2):c.3353A>C (p.Gln1118Pro) rs575266045
NM_017534.6(MYH2):c.3354+5G>A
NM_017534.6(MYH2):c.3354+9_3354+10insATTGCAAGTAAGAC rs1597450796
NM_017534.6(MYH2):c.3359G>A (p.Arg1120His)
NM_017534.6(MYH2):c.3364G>A (p.Glu1122Lys)
NM_017534.6(MYH2):c.3394C>T (p.Arg1132Trp)
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)
NM_017534.6(MYH2):c.3448G>A (p.Glu1150Lys)
NM_017534.6(MYH2):c.3448GAG[1] (p.Glu1151del)
NM_017534.6(MYH2):c.3478G>A (p.Gly1160Ser)
NM_017534.6(MYH2):c.349-3T>C
NM_017534.6(MYH2):c.3498G>T (p.Gln1166His) rs2073388994
NM_017534.6(MYH2):c.3499A>T (p.Ile1167Phe)
NM_017534.6(MYH2):c.3500T>C (p.Ile1167Thr)
NM_017534.6(MYH2):c.3536A>G (p.Lys1179Arg)
NM_017534.6(MYH2):c.3563C>A (p.Thr1188Asn) rs2073387879
NM_017534.6(MYH2):c.3584C>A (p.Ala1195Glu) rs373108053
NM_017534.6(MYH2):c.3587C>G (p.Ala1196Gly) rs2142298788
NM_017534.6(MYH2):c.3635A>G (p.Gln1212Arg) rs1456213666
NM_017534.6(MYH2):c.3640G>A (p.Asp1214Asn) rs1597450495
NM_017534.6(MYH2):c.3665A>G (p.Lys1222Arg)
NM_017534.6(MYH2):c.3695T>C (p.Met1232Thr)
NM_017534.6(MYH2):c.3720T>A (p.Asn1240Lys)
NM_017534.6(MYH2):c.3721G>A (p.Val1241Ile) rs2073384756
NM_017534.6(MYH2):c.3731T>A (p.Val1244Asp)
NM_017534.6(MYH2):c.3740C>G (p.Ala1247Gly) rs2073384604
NM_017534.6(MYH2):c.3748A>G (p.Asn1250Asp) rs1366353041
NM_017534.6(MYH2):c.3775G>C (p.Glu1259Gln)
NM_017534.6(MYH2):c.382C>A (p.Pro128Thr) rs2142321785
NM_017534.6(MYH2):c.3832G>A (p.Asp1278Asn) rs905151466
NM_017534.6(MYH2):c.3848G>C (p.Arg1283Thr)
NM_017534.6(MYH2):c.3848G>T (p.Arg1283Met) rs2073371857
NM_017534.6(MYH2):c.3851G>C (p.Gly1284Ala)
NM_017534.6(MYH2):c.3853C>A (p.Arg1285Ser) rs374494789
NM_017534.6(MYH2):c.3853C>T (p.Arg1285Cys)
NM_017534.6(MYH2):c.3871+5C>T
NM_017534.6(MYH2):c.3872G>T (p.Gly1291Val) rs747924610
NM_017534.6(MYH2):c.3892G>A (p.Asp1298Asn) rs1046313955
NM_017534.6(MYH2):c.3904G>C (p.Ala1302Pro)
NM_017534.6(MYH2):c.3934C>G (p.Gln1312Glu)
NM_017534.6(MYH2):c.3943A>T (p.Thr1315Ser)
NM_017534.6(MYH2):c.3944C>T (p.Thr1315Ile)
NM_017534.6(MYH2):c.3958G>A (p.Glu1320Lys)
NM_017534.6(MYH2):c.3968G>A (p.Arg1323Lys)
NM_017534.6(MYH2):c.3979G>A (p.Glu1327Lys) rs2142295860
NM_017534.6(MYH2):c.3G>C (p.Met1Ile)
NM_017534.6(MYH2):c.4000G>A (p.Ala1334Thr) rs779257410
NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser) rs779257410
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val) rs138470281
NM_017534.6(MYH2):c.4010A>G (p.His1337Arg) rs996870471
NM_017534.6(MYH2):c.4021T>A (p.Ser1341Thr) rs554321580
NM_017534.6(MYH2):c.4027C>G (p.Arg1343Gly) rs145911509
NM_017534.6(MYH2):c.4048C>T (p.Arg1350Trp) rs776018379
NM_017534.6(MYH2):c.409C>T (p.Pro137Ser)
NM_017534.6(MYH2):c.4102T>C (p.Ser1368Pro)
NM_017534.6(MYH2):c.4127A>G (p.Gln1376Arg)
NM_017534.6(MYH2):c.4153G>A (p.Ala1385Thr)
NM_017534.6(MYH2):c.4187+15A>G
NM_017534.6(MYH2):c.4187+6T>C rs748256368
NM_017534.6(MYH2):c.4188-11T>G
NM_017534.6(MYH2):c.4195C>A (p.Leu1399Met)
NM_017534.6(MYH2):c.4222G>A (p.Glu1408Lys) rs780588979
NM_017534.6(MYH2):c.4237G>A (p.Val1413Met)
NM_017534.6(MYH2):c.4242C>A (p.Asn1414Lys) rs146615128
NM_017534.6(MYH2):c.4276C>T (p.Arg1426Trp) rs773071482
NM_017534.6(MYH2):c.4277G>A (p.Arg1426Gln)
NM_017534.6(MYH2):c.4297G>A (p.Asp1433Asn)
NM_017534.6(MYH2):c.4337C>G (p.Ala1446Gly) rs1567728069
NM_017534.6(MYH2):c.4339G>A (p.Ala1447Thr)
NM_017534.6(MYH2):c.4372-11del rs2073341840
NM_017534.6(MYH2):c.4390C>A (p.Gln1464Lys)
NM_017534.6(MYH2):c.4431G>C (p.Gln1477His)
NM_017534.6(MYH2):c.4439C>T (p.Ala1480Val) rs1303566428
NM_017534.6(MYH2):c.443G>A (p.Arg148His)
NM_017534.6(MYH2):c.4478C>T (p.Ala1493Val) rs1034624770
NM_017534.6(MYH2):c.4489T>A (p.Ser1497Thr)
NM_017534.6(MYH2):c.4517G>C (p.Arg1506Pro) rs1049022189
NM_017534.6(MYH2):c.4521G>C (p.Glu1507Asp) rs753714787
NM_017534.6(MYH2):c.4523A>G (p.Asn1508Ser) rs764004345
NM_017534.6(MYH2):c.4529A>C (p.Asn1510Thr) rs1165680648
NM_017534.6(MYH2):c.4534C>G (p.Gln1512Glu)
NM_017534.6(MYH2):c.4537+5G>C rs1131691628
NM_017534.6(MYH2):c.4556C>A (p.Thr1519Lys)
NM_017534.6(MYH2):c.455C>T (p.Pro152Leu)
NM_017534.6(MYH2):c.4571_4573del (p.Glu1524del) rs774357063
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp) rs1243834294
NM_017534.6(MYH2):c.4581A>T (p.Lys1527Asn) rs2142293289
NM_017534.6(MYH2):c.4585A>G (p.Ile1529Val) rs2073336915
NM_017534.6(MYH2):c.4603A>G (p.Ile1535Val) rs2073336612
NM_017534.6(MYH2):c.4616T>G (p.Val1539Gly) rs2142293220
NM_017534.6(MYH2):c.4629G>C (p.Lys1543Asn) rs776862337
NM_017534.6(MYH2):c.4642G>C (p.Ala1548Pro) rs947669039
NM_017534.6(MYH2):c.4662G>A (p.Glu1554=)
NM_017534.6(MYH2):c.4667C>G (p.Ser1556Cys)
NM_017534.6(MYH2):c.4675C>T (p.His1559Tyr) rs1597448095
NM_017534.6(MYH2):c.4684G>A (p.Gly1562Arg) rs1555569889
NM_017534.6(MYH2):c.4691T>C (p.Ile1564Thr) rs2073333613
NM_017534.6(MYH2):c.469T>G (p.Ser157Ala)
NM_017534.6(MYH2):c.470C>T (p.Ser157Phe)
NM_017534.6(MYH2):c.4737T>A (p.Asp1579Glu)
NM_017534.6(MYH2):c.4739G>C (p.Arg1580Thr) rs2142292793
NM_017534.6(MYH2):c.4829A>T (p.Glu1610Val) rs2142292645
NM_017534.6(MYH2):c.484G>A (p.Ala162Thr)
NM_017534.6(MYH2):c.4875G>C (p.Glu1625Asp)
NM_017534.6(MYH2):c.4882C>A (p.Leu1628Ile)
NM_017534.6(MYH2):c.4882C>T (p.Leu1628Phe) rs2142292545
NM_017534.6(MYH2):c.4886A>G (p.Asn1629Ser)
NM_017534.6(MYH2):c.4916A>T (p.Asn1639Ile)
NM_017534.6(MYH2):c.4937T>C (p.Leu1646Pro)
NM_017534.6(MYH2):c.4953C>G (p.Asn1651Lys)
NM_017534.6(MYH2):c.4971+6T>C
NM_017534.6(MYH2):c.4972-19A>G
NM_017534.6(MYH2):c.4973A>G (p.Asp1658Gly)
NM_017534.6(MYH2):c.4976C>T (p.Thr1659Ile)
NM_017534.6(MYH2):c.4981A>C (p.Ile1661Leu)
NM_017534.6(MYH2):c.4997C>G (p.Ala1666Gly) rs773964603
NM_017534.6(MYH2):c.4997C>T (p.Ala1666Val)
NM_017534.6(MYH2):c.5014G>A (p.Asp1672Asn) rs1204274669
NM_017534.6(MYH2):c.5033C>T (p.Ala1678Val)
NM_017534.6(MYH2):c.5044C>T (p.Arg1682Cys)
NM_017534.6(MYH2):c.5053A>G (p.Asn1685Asp)
NM_017534.6(MYH2):c.5072T>C (p.Ile1691Thr) rs2073324867
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)
NM_017534.6(MYH2):c.5113A>G (p.Arg1705Gly)
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930
NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg) rs2142291882
NM_017534.6(MYH2):c.5152C>A (p.Arg1718Ser) rs1161860650
NM_017534.6(MYH2):c.5152C>T (p.Arg1718Cys)
NM_017534.6(MYH2):c.5155G>A (p.Val1719Ile)
NM_017534.6(MYH2):c.5171C>G (p.Thr1724Ser) rs202050465
NM_017534.6(MYH2):c.5173C>G (p.Gln1725Glu) rs2073322886
NM_017534.6(MYH2):c.5176-4A>G rs879251009
NM_017534.6(MYH2):c.5180C>G (p.Thr1727Ser) rs750223323
NM_017534.6(MYH2):c.5180C>T (p.Thr1727Ile) rs750223323
NM_017534.6(MYH2):c.5183G>A (p.Ser1728Asn)
NM_017534.6(MYH2):c.5185C>G (p.Leu1729Val)
NM_017534.6(MYH2):c.5221T>C (p.Ser1741Pro)
NM_017534.6(MYH2):c.5231A>G (p.Gln1744Arg) rs1050104425
NM_017534.6(MYH2):c.5238G>C (p.Glu1746Asp)
NM_017534.6(MYH2):c.5260G>T (p.Ala1754Ser) rs2073314725
NM_017534.6(MYH2):c.5284AAG[1] (p.Lys1763del)
NM_017534.6(MYH2):c.5301T>C (p.Asp1767=) rs2073313827
NM_017534.6(MYH2):c.5311A>G (p.Met1771Val) rs2073312358
NM_017534.6(MYH2):c.5359C>T (p.Arg1787Trp)
NM_017534.6(MYH2):c.5363T>C (p.Met1788Thr)
NM_017534.6(MYH2):c.5371_5391del (p.Asn1791_Lys1797del) rs2142290581
NM_017534.6(MYH2):c.5374A>G (p.Met1792Val)
NM_017534.6(MYH2):c.5382G>C (p.Gln1794His) rs1567726803
NM_017534.6(MYH2):c.5405G>T (p.Arg1802Leu)
NM_017534.6(MYH2):c.5414A>C (p.Glu1805Ala)
NM_017534.6(MYH2):c.541T>C (p.Ser181Pro) rs2073593497
NM_017534.6(MYH2):c.542C>A (p.Ser181Tyr)
NM_017534.6(MYH2):c.5446A>G (p.Lys1816Glu)
NM_017534.6(MYH2):c.545G>A (p.Gly182Asp)
NM_017534.6(MYH2):c.5462T>C (p.Leu1821Pro) rs2073310003
NM_017534.6(MYH2):c.5466G>T (p.Glu1822Asp)
NM_017534.6(MYH2):c.5494G>A (p.Val1832Ile) rs1462537897
NM_017534.6(MYH2):c.5511G>C (p.Lys1837Asn)
NM_017534.6(MYH2):c.5518G>A (p.Ala1840Thr) rs2073307748
NM_017534.6(MYH2):c.5525C>A (p.Ala1842Asp)
NM_017534.6(MYH2):c.5555G>T (p.Arg1852Leu) rs769778269
NM_017534.6(MYH2):c.5566C>G (p.Leu1856Val)
NM_017534.6(MYH2):c.5569A>G (p.Thr1857Ala)
NM_017534.6(MYH2):c.5577+5A>G
NM_017534.6(MYH2):c.5579C>G (p.Thr1860Arg) rs148724880
NM_017534.6(MYH2):c.5579C>T (p.Thr1860Met)
NM_017534.6(MYH2):c.5584G>C (p.Glu1862Gln)
NM_017534.6(MYH2):c.5597A>G (p.Asn1866Ser)
NM_017534.6(MYH2):c.559G>A (p.Val187Met)
NM_017534.6(MYH2):c.5647T>C (p.Ser1883Pro) rs746016363
NM_017534.6(MYH2):c.5652_5656del (p.Tyr1884_Arg1886delinsTer)
NM_017534.6(MYH2):c.5653A>G (p.Lys1885Glu)
NM_017534.6(MYH2):c.5671G>T (p.Ala1891Ser)
NM_017534.6(MYH2):c.5672C>T (p.Ala1891Val)
NM_017534.6(MYH2):c.5673+3A>C rs2142289859
NM_017534.6(MYH2):c.5673+4_5673+7del
NM_017534.6(MYH2):c.5673+5G>A
NM_017534.6(MYH2):c.5680C>T (p.Gln1894Ter)
NM_017534.6(MYH2):c.5690C>G (p.Thr1897Ser) rs1480289239
NM_017534.6(MYH2):c.5750A>G (p.Asp1917Gly)
NM_017534.6(MYH2):c.5753T>C (p.Ile1918Thr)
NM_017534.6(MYH2):c.5755G>A (p.Ala1919Thr) rs1464949119
NM_017534.6(MYH2):c.5801A>C (p.His1934Pro)
NM_017534.6(MYH2):c.5G>T (p.Ser2Ile)
NM_017534.6(MYH2):c.602T>C (p.Val201Ala)
NM_017534.6(MYH2):c.612G>C (p.Glu204Asp) rs1266665896
NM_017534.6(MYH2):c.635C>A (p.Ser212Tyr)
NM_017534.6(MYH2):c.682C>A (p.Pro228Thr) rs367639163
NM_017534.6(MYH2):c.683C>G (p.Pro228Arg) rs1389727909
NM_017534.6(MYH2):c.701G>A (p.Gly234Asp) rs1567736673
NM_017534.6(MYH2):c.70C>G (p.Arg24Gly)
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)
NM_017534.6(MYH2):c.715G>A (p.Val239Met)
NM_017534.6(MYH2):c.71G>A (p.Arg24His)
NM_017534.6(MYH2):c.71G>T (p.Arg24Leu) rs141174023
NM_017534.6(MYH2):c.737G>T (p.Arg246Leu)
NM_017534.6(MYH2):c.741+6T>C rs2142319220
NM_017534.6(MYH2):c.762C>A (p.His254Gln) rs2073579202
NM_017534.6(MYH2):c.764T>C (p.Phe255Ser)
NM_017534.6(MYH2):c.782T>C (p.Leu261Pro) rs1597457334
NM_017534.6(MYH2):c.798T>G (p.Ile266Met) rs2073578403
NM_017534.6(MYH2):c.844G>A (p.Ala282Thr)
NM_017534.6(MYH2):c.897A>T (p.Glu299Asp) rs201854230
NM_017534.6(MYH2):c.903T>C (p.Ile301=)
NM_017534.6(MYH2):c.919A>G (p.Thr307Ala)
NM_017534.6(MYH2):c.91C>A (p.Pro31Thr)
NM_017534.6(MYH2):c.91C>T (p.Pro31Ser)
NM_017534.6(MYH2):c.923C>T (p.Thr308Met) rs2073541339
NM_017534.6(MYH2):c.92C>T (p.Pro31Leu)
NM_017534.6(MYH2):c.930A>G (p.Pro310=) rs2142314920
NM_017534.6(MYH2):c.946G>A (p.Val316Ile)
NM_017534.6(MYH2):c.950G>T (p.Ser317Ile) rs1567735281
NM_017534.6(MYH2):c.956G>A (p.Gly319Glu) rs2142314883
NM_017534.6(MYH2):c.974G>C (p.Ser325Thr)
NM_017534.6(MYH2):c.988G>A (p.Glu330Lys)
NM_017534.6(MYH2):c.998T>C (p.Met333Thr)
NM_020451.3(SELENON):c.1004A>G (p.Asn335Ser)
NM_020451.3(SELENON):c.1042G>T (p.Gly348Trp) rs374499583
NM_020451.3(SELENON):c.1049G>C (p.Ser350Thr) rs777864718
NM_020451.3(SELENON):c.1072G>A (p.Asp358Asn) rs2047959221
NM_020451.3(SELENON):c.1078G>T (p.Gly360Cys) rs761873230
NM_020451.3(SELENON):c.1092+6C>T rs148071754
NM_020451.3(SELENON):c.1094T>C (p.Met365Thr) rs973033318
NM_020451.3(SELENON):c.10G>T (p.Ala4Ser) rs1371866855
NM_020451.3(SELENON):c.1108A>T (p.Thr370Ser)
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1118C>G (p.Ser373Cys)
NM_020451.3(SELENON):c.1123C>A (p.Pro375Thr) rs1379278116
NM_020451.3(SELENON):c.1159G>A (p.Asp387Asn)
NM_020451.3(SELENON):c.1175C>T (p.Ser392Leu) rs758620314
NM_020451.3(SELENON):c.1195G>C (p.Val399Leu) rs1337260819
NM_020451.3(SELENON):c.1201GAG[1] (p.Glu402del) rs1197764943
NM_020451.3(SELENON):c.1207A>G (p.Ile403Val)
NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup) rs999744359
NM_020451.3(SELENON):c.126_134dup (p.Ala43_Ala45dup) rs1161050482
NM_020451.3(SELENON):c.1270C>A (p.Pro424Thr)
NM_020451.3(SELENON):c.1282-3C>G rs1040390429
NM_020451.3(SELENON):c.1282-3C>T
NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)
NM_020451.3(SELENON):c.1301C>G (p.Thr434Ser)
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val) rs200431320
NM_020451.3(SELENON):c.1355T>C (p.Leu452Pro)
NM_020451.3(SELENON):c.1367T>G (p.Leu456Arg) rs2047977658
NM_020451.3(SELENON):c.1369G>T (p.Asp457Tyr) rs2047977673
NM_020451.3(SELENON):c.136G>A (p.Val46Ile) rs2124436757
NM_020451.3(SELENON):c.1377G>C (p.Gln459His)
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1386A>G rs1557433091
NM_020451.3(SELENON):c.1415T>C (p.Val472Ala) rs2124454571
NM_020451.3(SELENON):c.1421_1422insC (p.Glu474fs)
NM_020451.3(SELENON):c.1427C>G (p.Ser476Trp) rs368377980
NM_020451.3(SELENON):c.1465_1466del (p.Thr489fs) rs2047988020
NM_020451.3(SELENON):c.1477G>C (p.Val493Leu) rs1465319326
NM_020451.3(SELENON):c.1500+16G>A
NM_020451.3(SELENON):c.1504A>T (p.Asn502Tyr)
NM_020451.3(SELENON):c.1510_1512del (p.Glu504del) rs1247672340
NM_020451.3(SELENON):c.1524C>A (p.His508Gln) rs1198379415
NM_020451.3(SELENON):c.1524C>G (p.His508Gln)
NM_020451.3(SELENON):c.152G>A (p.Arg51His)
NM_020451.3(SELENON):c.1534G>A (p.Ala512Thr) rs1358541711
NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)
NM_020451.3(SELENON):c.1572GAT[2] (p.Met526del) rs2047990479
NM_020451.3(SELENON):c.1589C>T (p.Pro530Leu) rs1209522007
NM_020451.3(SELENON):c.1602+1G>A rs751927853
NM_020451.3(SELENON):c.1602+4G>A rs2047990840
NM_020451.3(SELENON):c.1603-1G>C rs2124456702
NM_020451.3(SELENON):c.1650G>C (p.Lys550Asn)
NM_020451.3(SELENON):c.1651C>G (p.Pro551Ala) rs2124456811
NM_020451.3(SELENON):c.1662C>G (p.Ile554Met)
NM_020451.3(SELENON):c.167A>C (p.Gln56Pro)
NM_020451.3(SELENON):c.1691C>T (p.Thr564Ile)
NM_020451.3(SELENON):c.1703C>T (p.Pro568Leu) rs367859333
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
NM_020451.3(SELENON):c.1744C>G (p.Arg582Gly) rs373530866
NM_020451.3(SELENON):c.1747C>T (p.Arg583Cys) rs758590388
NM_020451.3(SELENON):c.1759C>G (p.Leu587Val)
NM_020451.3(SELENON):c.183+3C>T rs2047850845
NM_020451.3(SELENON):c.184-3C>G
NM_020451.3(SELENON):c.184-3C>T rs1035976243
NM_020451.3(SELENON):c.184-6A>C rs2124437550
NM_020451.3(SELENON):c.188T>G (p.Leu63Arg) rs1557814336
NM_020451.3(SELENON):c.227T>C (p.Phe76Ser) rs2124437633
NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys) rs1019702401
NM_020451.3(SELENON):c.271G>A (p.Glu91Lys)
NM_020451.3(SELENON):c.276C>A (p.Phe92Leu) rs756673739
NM_020451.3(SELENON):c.28G>A (p.Gly10Arg)
NM_020451.3(SELENON):c.296T>A (p.Leu99Gln)
NM_020451.3(SELENON):c.301+5C>T
NM_020451.3(SELENON):c.302-3C>G rs1327559756
NM_020451.3(SELENON):c.311C>T (p.Ser104Phe) rs2124438957
NM_020451.3(SELENON):c.367C>T (p.Pro123Ser)
NM_020451.3(SELENON):c.377A>G (p.Asn126Ser)
NM_020451.3(SELENON):c.410C>T (p.Thr137Ile) rs2047894839
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) rs762382665
NM_020451.3(SELENON):c.456C>G (p.Ser152Arg) rs202188924
NM_020451.3(SELENON):c.464C>T (p.Thr155Met)
NM_020451.3(SELENON):c.472A>G (p.Ile158Val) rs2047895777
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
NM_020451.3(SELENON):c.538-3C>T rs1572232433
NM_020451.3(SELENON):c.538-8C>A
NM_020451.3(SELENON):c.538G>A (p.Val180Ile) rs751053087
NM_020451.3(SELENON):c.542C>T (p.Ser181Phe)
NM_020451.3(SELENON):c.544C>T (p.Arg182Cys)
NM_020451.3(SELENON):c.550G>A (p.Ala184Thr) rs199742668
NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)
NM_020451.3(SELENON):c.577G>A (p.Ala193Thr)
NM_020451.3(SELENON):c.580G>A (p.Ala194Thr) rs560203077
NM_020451.3(SELENON):c.58C>T (p.Pro20Ser) rs1329648911
NM_020451.3(SELENON):c.608C>A (p.Thr203Asn)
NM_020451.3(SELENON):c.65C>T (p.Ala22Val) rs2047849177
NM_020451.3(SELENON):c.668T>A (p.Ile223Asn) rs1299656382
NM_020451.3(SELENON):c.686G>C (p.Ser229Thr) rs56169842
NM_020451.3(SELENON):c.697G>A (p.Gly233Ser) rs2124447513
NM_020451.3(SELENON):c.728C>T (p.Pro243Leu) rs745856385
NM_020451.3(SELENON):c.737A>G (p.Lys246Arg) rs2047932738
NM_020451.3(SELENON):c.746A>T (p.Glu249Val) rs2047932867
NM_020451.3(SELENON):c.760C>G (p.Arg254Gly) rs374195814
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp) rs374195814
NM_020451.3(SELENON):c.795G>A (p.Val265=)
NM_020451.3(SELENON):c.7C>G (p.Arg3Gly) rs866566089
NM_020451.3(SELENON):c.814C>G (p.Gln272Glu) rs2047935649
NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)
NM_020451.3(SELENON):c.86G>A (p.Arg29His) rs1349760554
NM_020451.3(SELENON):c.875T>A (p.Ile292Asn) rs2047941221
NM_020451.3(SELENON):c.943G>C (p.Gly315Arg) rs121908188
NM_020451.3(SELENON):c.94G>C (p.Ala32Pro)
NM_020451.3(SELENON):c.977T>G (p.Val326Gly) rs2047942764
NM_032790.3(ORAI1):c.308+2T>C rs1892796192
NM_032790.3(ORAI1):c.309-16G>T
NM_032790.4(ORAI1):c.101G>T (p.Ser34Ile)
NM_032790.4(ORAI1):c.103G>A (p.Gly35Arg)
NM_032790.4(ORAI1):c.104G>A (p.Gly35Glu)
NM_032790.4(ORAI1):c.109G>A (p.Gly37Arg) rs2136841564
NM_032790.4(ORAI1):c.113_121delAGCCCCCGG (p.Glu38_Pro40del) rs781971569
NM_032790.4(ORAI1):c.114G>T (p.Glu38Asp) rs1226204743
NM_032790.4(ORAI1):c.115C>G (p.Pro39Ala) rs782531427
NM_032790.4(ORAI1):c.116C>T (p.Pro39Leu)
NM_032790.4(ORAI1):c.122_142dup (p.Pro47_Ser48insTrpAlaProProProProPro) rs2089908763
NM_032790.4(ORAI1):c.124G>T (p.Ala42Ser) rs782427834
NM_032790.4(ORAI1):c.125C>G (p.Ala42Gly)
NM_032790.4(ORAI1):c.125C>T (p.Ala42Val) rs1212609439
NM_032790.4(ORAI1):c.131C>T (p.Pro44Leu)
NM_032790.4(ORAI1):c.131CGC[3][1] (p.Pro47Hisfs)
NM_032790.4(ORAI1):c.131_132insGCCGCCGCGGGGACGGGGAGCCCCCGGGGGC (p.Pro47fs)
NM_032790.4(ORAI1):c.131_141delCACCGCCGCCG (p.Pro44Leufs)
NM_032790.4(ORAI1):c.132_133delAC (p.Pro45Alafs)
NM_032790.4(ORAI1):c.132_135delACCGinsGCCGT (p.Pro46Serfs) rs1892790744
NM_032790.4(ORAI1):c.132_143delACCGCCGCCGTC (p.Pro45_Ser48del) rs1566465887
NM_032790.4(ORAI1):c.132delAinsGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Pro46Glnfs) rs1892790617
NM_032790.4(ORAI1):c.133C>G (p.Pro45Ala)
NM_032790.4(ORAI1):c.133_135CCG[4] (p.Pro47_Ser48insPro)
NM_032790.4(ORAI1):c.135G>A (p.Pro45=)
NM_032790.4(ORAI1):c.136C>T (p.Pro46Ser)
NM_032790.4(ORAI1):c.140C>A (p.Pro47Gln)
NM_032790.4(ORAI1):c.140C>G (p.Pro47Arg) rs781855511
NM_032790.4(ORAI1):c.143C>T (p.Ser48Phe) rs2136841806
NM_032790.4(ORAI1):c.157C>T (p.Pro53Ser)
NM_032790.4(ORAI1):c.161A>G (p.Asp54Gly)
NM_032790.4(ORAI1):c.164G>A (p.Trp55Ter)
NM_032790.4(ORAI1):c.165G>T (p.Trp55Cys)
NM_032790.4(ORAI1):c.168C>G (p.Ile56Met) rs1892792431
NM_032790.4(ORAI1):c.169G>A (p.Gly57Ser) rs1412190366
NM_032790.4(ORAI1):c.16_20GCCCC[3] (p.Pro9Argfs)
NM_032790.4(ORAI1):c.170G>A (p.Gly57Asp) rs370688474
NM_032790.4(ORAI1):c.173A>G (p.Gln58Arg)
NM_032790.4(ORAI1):c.173_174AG[1] (p.Ser59Leufs)
NM_032790.4(ORAI1):c.17C>T (p.Ala6Val) rs2136841307
NM_032790.4(ORAI1):c.17_18delCCinsTT (p.Ala6Val) rs2136841311
NM_032790.4(ORAI1):c.183C>A (p.Ser61=)
NM_032790.4(ORAI1):c.187G>A (p.Val63Met)
NM_032790.4(ORAI1):c.18C>T (p.Ala6=)
NM_032790.4(ORAI1):c.194G>A (p.Ser65Asn) rs782424304
NM_032790.4(ORAI1):c.194G>T (p.Ser65Ile) rs782424304
NM_032790.4(ORAI1):c.200_210delACGAGCACTCCinsTG (p.Asn67_Ser70delinsMet)
NM_032790.4(ORAI1):c.22C>T (p.Pro8Ser) rs1356450700
NM_032790.4(ORAI1):c.249C>T (p.Arg83=)
NM_032790.4(ORAI1):c.255G>C (p.Lys85Asn)
NM_032790.4(ORAI1):c.259A>G (p.Lys87Glu)
NM_032790.4(ORAI1):c.264C>T (p.Ala88=)
NM_032790.4(ORAI1):c.265T>G (p.Ser89Ala)
NM_032790.4(ORAI1):c.266C>G (p.Ser89Cys) rs1892795100
NM_032790.4(ORAI1):c.275C>T (p.Thr92Ile)
NM_032790.4(ORAI1):c.287T>C (p.Leu96Pro)
NM_032790.4(ORAI1):c.303+17C>T
NM_032790.4(ORAI1):c.31C>T (p.Arg11Cys) rs1892784662
NM_032790.4(ORAI1):c.32G>T (p.Arg11Leu)
NM_032790.4(ORAI1):c.331G>A (p.Ala111Thr) rs529121117
NM_032790.4(ORAI1):c.343T>A (p.Tyr115Asn)
NM_032790.4(ORAI1):c.34A>C (p.Ser12Arg) rs1349225419
NM_032790.4(ORAI1):c.350C>G (p.Pro117Arg) rs782088694
NM_032790.4(ORAI1):c.350C>T (p.Pro117Leu)
NM_032790.4(ORAI1):c.376T>C (p.Cys126Arg) rs1893050626
NM_032790.4(ORAI1):c.377G>A (p.Cys126Tyr) rs2136852559
NM_032790.4(ORAI1):c.37A>C (p.Ser13Arg)
NM_032790.4(ORAI1):c.382A>C (p.Thr128Pro)
NM_032790.4(ORAI1):c.394G>A (p.Ala132Thr) rs2136852590
NM_032790.4(ORAI1):c.40C>G (p.Pro14Ala) rs1892784896
NM_032790.4(ORAI1):c.412C>T (p.Leu138Phe) rs786204797
NM_032790.4(ORAI1):c.43G>A (p.Glu15Lys) rs1321846731
NM_032790.4(ORAI1):c.440A>T (p.Asn147Ile)
NM_032790.4(ORAI1):c.445G>A (p.Glu149Lys)
NM_032790.4(ORAI1):c.460G>A (p.Val154Met)
NM_032790.4(ORAI1):c.466A>G (p.Asn156Asp)
NM_032790.4(ORAI1):c.467A>G (p.Asn156Ser) rs1893052177
NM_032790.4(ORAI1):c.46C>A (p.Leu16Ile)
NM_032790.4(ORAI1):c.46C>T (p.Leu16Phe)
NM_032790.4(ORAI1):c.473A>G (p.Asn158Ser)
NM_032790.4(ORAI1):c.478G>T (p.Val160Phe)
NM_032790.4(ORAI1):c.479T>C (p.Val160Ala)
NM_032790.4(ORAI1):c.47T>G (p.Leu16Arg)
NM_032790.4(ORAI1):c.498G>T (p.Glu166Asp) rs781910070
NM_032790.4(ORAI1):c.499C>T (p.Arg167Cys)
NM_032790.4(ORAI1):c.500G>A (p.Arg167His)
NM_032790.4(ORAI1):c.500G>T (p.Arg167Leu)
NM_032790.4(ORAI1):c.503T>C (p.Met168Thr)
NM_032790.4(ORAI1):c.504G>A (p.Met168Ile) rs1416832738
NM_032790.4(ORAI1):c.509G>A (p.Arg170His)
NM_032790.4(ORAI1):c.51C>T (p.Pro17=)
NM_032790.4(ORAI1):c.524C>T (p.Ala175Val)
NM_032790.4(ORAI1):c.525C>T (p.Ala175=)
NM_032790.4(ORAI1):c.526T>C (p.Trp176Arg)
NM_032790.4(ORAI1):c.52C>G (p.Pro18Ala)
NM_032790.4(ORAI1):c.53dup (p.Ser19Lysfs)
NM_032790.4(ORAI1):c.541G>A (p.Val181Ile)
NM_032790.4(ORAI1):c.544A>G (p.Ile182Val)
NM_032790.4(ORAI1):c.547G>A (p.Gly183Ser) rs2136852917
NM_032790.4(ORAI1):c.551C>T (p.Thr184Met)
NM_032790.4(ORAI1):c.55delA (p.Ser19Alafs) rs2136841389
NM_032790.4(ORAI1):c.564_565delinsTC (p.Ala189Pro)
NM_032790.4(ORAI1):c.574G>T (p.Val192Leu)
NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser) rs1244560316
NM_032790.4(ORAI1):c.58G>T (p.Gly20Cys)
NM_032790.4(ORAI1):c.58_59delinsAT (p.Gly20Ile)
NM_032790.4(ORAI1):c.58_72delGGCGGCAGCACCACC (p.Gly20_Thr24del)
NM_032790.4(ORAI1):c.5A>G (p.His2Arg) rs2136841279
NM_032790.4(ORAI1):c.609G>A (p.Lys203=)
NM_032790.4(ORAI1):c.611A>T (p.Lys204Met)
NM_032790.4(ORAI1):c.616C>G (p.Pro206Ala)
NM_032790.4(ORAI1):c.616C>T (p.Pro206Ser)
NM_032790.4(ORAI1):c.61G>C (p.Gly21Arg)
NM_032790.4(ORAI1):c.61G>T (p.Gly21Cys)
NM_032790.4(ORAI1):c.625C>T (p.Pro209Ser)
NM_032790.4(ORAI1):c.634A>G (p.Thr212Ala) rs2136853101
NM_032790.4(ORAI1):c.634A>T (p.Thr212Ser) rs2136853101
NM_032790.4(ORAI1):c.637A>G (p.Ser213Gly)
NM_032790.4(ORAI1):c.64_81dup (p.Ser27_Arg28insSerThrThrSerGlySer) rs2136841403
NM_032790.4(ORAI1):c.658G>A (p.Ala220Thr)
NM_032790.4(ORAI1):c.665C>A (p.Ala222Asp)
NM_032790.4(ORAI1):c.670G>A (p.Val224Ile) rs782722476
NM_032790.4(ORAI1):c.670G>T (p.Val224Phe)
NM_032790.4(ORAI1):c.680G>A (p.Ser227Asn)
NM_032790.4(ORAI1):c.696C>T (p.Gly232=) rs2136853300
NM_032790.4(ORAI1):c.6T>G (p.His2Gln) rs1594204338
NM_032790.4(ORAI1):c.700G>A (p.Ala234Thr) rs1594212759
NM_032790.4(ORAI1):c.709A>G (p.Ile237Val)
NM_032790.4(ORAI1):c.712G>C (p.Ala238Pro)
NM_032790.4(ORAI1):c.71C>T (p.Thr24Ile)
NM_032790.4(ORAI1):c.729G>T (p.Met243Ile)
NM_032790.4(ORAI1):c.736T>C (p.Phe246Leu)
NM_032790.4(ORAI1):c.740G>A (p.Gly247Asp) rs2136853394
NM_032790.4(ORAI1):c.752T>C (p.Ile251Thr)
NM_032790.4(ORAI1):c.76G>A (p.Gly26Ser)
NM_032790.4(ORAI1):c.775C>A (p.Arg259Ser)
NM_032790.4(ORAI1):c.796A>G (p.Thr266Ala)
NM_032790.4(ORAI1):c.796A>T (p.Thr266Ser) rs1555324156
NM_032790.4(ORAI1):c.79A>T (p.Ser27Cys)
NM_032790.4(ORAI1):c.7C>T (p.Pro3Ser) rs1594204339
NM_032790.4(ORAI1):c.803G>A (p.Arg268Gln)
NM_032790.4(ORAI1):c.816G>C (p.Glu272Asp)
NM_032790.4(ORAI1):c.822C>A (p.Asn274Lys) rs782201078
NM_032790.4(ORAI1):c.823G>C (p.Glu275Gln) rs368440417
NM_032790.4(ORAI1):c.845T>A (p.Leu282Ter) rs1566472954
NM_032790.4(ORAI1):c.847C>T (p.Gln283Ter)
NM_032790.4(ORAI1):c.859G>C (p.Asp287His) rs1555324170
NM_032790.4(ORAI1):c.85C>T (p.Arg29Trp) rs1413893402
NM_032790.4(ORAI1):c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg) rs1372064351
NM_032790.4(ORAI1):c.862_863CA[3] (p.Arg289Thrfs) rs1194726675
NM_032790.4(ORAI1):c.863A>G (p.His288Arg)
NM_032790.4(ORAI1):c.874delC (p.His292Thrfs)
NM_032790.4(ORAI1):c.878_879delCCinsAG (p.Pro293Gln)
NM_032790.4(ORAI1):c.88A>G (p.Ser30Gly) rs2136841468
NM_032790.4(ORAI1):c.88_96dup (p.Arg32_Arg33insSerArgArg)
NM_032790.4(ORAI1):c.896A>G (p.His299Arg)
NM_032790.4(ORAI1):c.89G>A (p.Ser30Asn) rs1389191128
NM_032790.4(ORAI1):c.8C>T (p.Pro3Leu)
NM_032790.4(ORAI1):c.91_93CGC[4] (p.Arg33_Ser34insArg) rs782013212
NM_032790.4(ORAI1):c.91_93CGC[6] (p.Arg33_Ser34insArgArgArg) rs782013212
NM_032790.4(ORAI1):c.94C>A (p.Arg32Ser)
NM_032790.4(ORAI1):c.97C>G (p.Arg33Gly) rs1892787893
NM_032790.4(ORAI1):c.98G>A (p.Arg33His) rs1465865018
NM_133378.4(TTN):c.10361-1262dup rs876657673
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_138638.5(CFL2):c.114C>A (p.Phe38Leu)
NM_138638.5(CFL2):c.116G>A (p.Cys39Tyr)
NM_138638.5(CFL2):c.127G>A (p.Asp43Asn) rs2138474697
NM_138638.5(CFL2):c.151G>A (p.Glu51Lys) rs1885385349
NM_138638.5(CFL2):c.176A>G (p.Asp59Gly)
NM_138638.5(CFL2):c.203A>G (p.Tyr68Cys) rs1885382343
NM_138638.5(CFL2):c.22A>G (p.Asn8Asp) rs2138475009
NM_138638.5(CFL2):c.242G>A (p.Arg81Gln) rs1885381246
NM_138638.5(CFL2):c.24TGA[1] (p.Asp9del) rs1268123385
NM_138638.5(CFL2):c.256G>A (p.Asp86Asn)
NM_138638.5(CFL2):c.25_26delinsAT (p.Asp9Ile)
NM_138638.5(CFL2):c.268G>A (p.Glu90Lys) rs879148457
NM_138638.5(CFL2):c.276A>C (p.Lys92Asn) rs1468647166
NM_138638.5(CFL2):c.301T>C (p.Phe101Leu)
NM_138638.5(CFL2):c.304A>G (p.Ile102Val) rs2138474233
NM_138638.5(CFL2):c.312-3T>G rs1885369430
NM_138638.5(CFL2):c.328C>T (p.Pro110Ser) rs1594784547
NM_138638.5(CFL2):c.349del (p.Tyr117fs) rs1885368186
NM_138638.5(CFL2):c.353C>G (p.Ala118Gly) rs865927835
NM_138638.5(CFL2):c.388G>C (p.Gly130Arg) rs1566525113
NM_138638.5(CFL2):c.452A>G (p.Glu151Gly) rs2138473087
NM_138638.5(CFL2):c.457T>G (p.Leu153Val) rs587780312
NM_138638.5(CFL2):c.467A>G (p.Asn156Ser) rs2138473058
NM_138638.5(CFL2):c.469G>A (p.Val157Ile)
NM_138638.5(CFL2):c.471AGT[1] (p.Val159del) rs1594784265
NM_138638.5(CFL2):c.475G>T (p.Val159Phe) rs1885356615
NM_138638.5(CFL2):c.497T>C (p.Leu166Ser)
NM_138638.5(CFL2):c.51T>A (p.Asp17Glu)
NM_138638.5(CFL2):c.54G>A (p.Met18Ile) rs1594784960
NM_138638.5(CFL2):c.67TCT[1] (p.Ser24del)
NM_138638.5(CFL2):c.70T>G (p.Ser24Ala)
NM_138638.5(CFL2):c.78_80del (p.Glu28del) rs751972348
NM_138638.5(CFL2):c.97A>C (p.Lys33Gln)
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)
NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) rs886043420
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly) rs1553456782
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)
NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg) rs2104935838
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)
NM_139343.3(BIN1):c.1132-2A>G rs1295546366
NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr) rs1573549506
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) rs1573549506
NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr) rs1683302135
NM_139343.3(BIN1):c.11T>C (p.Met4Thr)
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)
NM_139343.3(BIN1):c.1213G>A (p.Val405Met)
NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter) rs2104891817
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr) rs1240564481
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr) rs1158338100
NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys) rs750715069
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)
NM_139343.3(BIN1):c.1372-1G>A rs1682909859
NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys) rs865803817
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)
NM_139343.3(BIN1):c.1470del (p.Pro491fs)
NM_139343.3(BIN1):c.1472del (p.Pro491fs) rs1682848303
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala) rs1682847067
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu) rs1191840422
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)
NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val) rs2104859449
NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)
NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile) rs773732601
NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu) rs1445898966
NM_139343.3(BIN1):c.165+1G>A
NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys) rs1682762039
NM_139343.3(BIN1):c.1675-2A>G
NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)
NM_139343.3(BIN1):c.167C>T (p.Thr56Met)
NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu) rs761759946
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn) rs368983991
NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu) rs2104840053
NM_139343.3(BIN1):c.173G>T (p.Gly58Val) rs1282156307
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly) rs2104839547
NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln) rs1558835946
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile) rs2105078067
NM_139343.3(BIN1):c.220+4G>A
NM_139343.3(BIN1):c.224T>C (p.Met75Thr) rs1024658796
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys) rs1685759135
NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe) rs1377099769
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter) rs2105075896
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn) rs774273606
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) rs770994335
NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys) rs1681237812
NM_139343.3(BIN1):c.29C>T (p.Thr10Met)
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr) rs754932468
NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys) rs1685745258
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)
NM_139343.3(BIN1):c.315+3G>C rs764821578
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln) rs2105070437
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs) rs761813363
NM_139343.3(BIN1):c.385T>C (p.Tyr129His) rs2105069995
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)
NM_139343.3(BIN1):c.411+1G>T
NM_139343.3(BIN1):c.411+5G>C
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu) rs1407049344
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg) rs1685516968
NM_139343.3(BIN1):c.430_432del (p.Gly144del) rs1685516331
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp) rs761914168
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) rs1553466026
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe) rs1685511003
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del) rs775374523
NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)
NM_139343.3(BIN1):c.519+6G>T
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys) rs2105378914
NM_139343.3(BIN1):c.552G>C (p.Gln184His)
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu) rs2105378861
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile) rs2105049284
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu) rs376323215
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.701G>A (p.Arg234His)
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly) rs2105378684
NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)
NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)
NM_139343.3(BIN1):c.737C>T (p.Ala246Val)
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp) rs1684781364
NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn) rs761203710
NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)
NM_139343.3(BIN1):c.821A>G (p.His274Arg)
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp) rs771506242
NM_139343.3(BIN1):c.84+14A>T rs2105378351
NM_139343.3(BIN1):c.84+4286_84+4287delinsAT
NM_139343.3(BIN1):c.84+6C>A
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn) rs1681229622
NM_139343.3(BIN1):c.857+4C>G
NM_139343.3(BIN1):c.857+5G>A
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser) rs2104954121
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr) rs1462533329
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly) rs1259572705
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile) rs199551366
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys) rs769801396
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln) rs769801396
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)
NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)
NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp) rs558639756
NM_145064.3(STAC3):c.1008G>C (p.Gln336His) rs2136821205
NM_145064.3(STAC3):c.1073C>T (p.Thr358Ile) rs2136820993
NM_145064.3(STAC3):c.1090A>T (p.Ile364Phe)
NM_145064.3(STAC3):c.113A>G (p.Lys38Arg)
NM_145064.3(STAC3):c.125T>C (p.Leu42Pro)
NM_145064.3(STAC3):c.145A>G (p.Asn49Asp) rs2037840980
NM_145064.3(STAC3):c.151G>C (p.Glu51Gln) rs2136836172
NM_145064.3(STAC3):c.170G>A (p.Gly57Asp)
NM_145064.3(STAC3):c.170G>C (p.Gly57Ala) rs1027548586
NM_145064.3(STAC3):c.181TAC[1] (p.Tyr62del) rs2037839479
NM_145064.3(STAC3):c.195GGAAGA[2] (p.Glu75_Glu76del) rs747619441
NM_145064.3(STAC3):c.195GGAAGA[4] (p.Glu75_Glu76dup) rs747619441
NM_145064.3(STAC3):c.214GAG[4] (p.Glu76del) rs781007752
NM_145064.3(STAC3):c.214GAG[6] (p.Glu76dup) rs781007752
NM_145064.3(STAC3):c.24G>C (p.Glu8Asp) rs2136837458
NM_145064.3(STAC3):c.264G>T (p.Lys88Asn) rs200362421
NM_145064.3(STAC3):c.26C>A (p.Ser9Tyr) rs775388111
NM_145064.3(STAC3):c.293A>G (p.Lys98Arg)
NM_145064.3(STAC3):c.299C>T (p.Pro100Leu) rs1176692820
NM_145064.3(STAC3):c.329T>C (p.Ile110Thr)
NM_145064.3(STAC3):c.334+3G>T rs2136835225
NM_145064.3(STAC3):c.334C>T (p.Leu112Phe)
NM_145064.3(STAC3):c.336CAA[2] (p.Asn114del) rs1260528039
NM_145064.3(STAC3):c.347T>A (p.Phe116Tyr)
NM_145064.3(STAC3):c.347T>G (p.Phe116Cys) rs1565783065
NM_145064.3(STAC3):c.34C>G (p.Pro12Ala) rs1382772416
NM_145064.3(STAC3):c.379A>G (p.Ile127Val)
NM_145064.3(STAC3):c.392G>C (p.Cys131Ser)
NM_145064.3(STAC3):c.395A>G (p.Gln132Arg)
NM_145064.3(STAC3):c.404T>C (p.Val135Ala) rs2037825175
NM_145064.3(STAC3):c.416G>C (p.Arg139Thr)
NM_145064.3(STAC3):c.417A>G (p.Arg139=)
NM_145064.3(STAC3):c.419G>C (p.Cys140Ser) rs779015879
NM_145064.3(STAC3):c.424G>A (p.Gly142Ser) rs777565251
NM_145064.3(STAC3):c.424G>C (p.Gly142Arg) rs777565251
NM_145064.3(STAC3):c.432+4A>T rs751033943
NM_145064.3(STAC3):c.440G>A (p.Gly147Asp) rs1280812031
NM_145064.3(STAC3):c.445C>T (p.His149Tyr)
NM_145064.3(STAC3):c.449G>A (p.Arg150Gln)
NM_145064.3(STAC3):c.458G>A (p.Ser153Asn) rs2037800739
NM_145064.3(STAC3):c.473G>A (p.Ser158Asn) rs1592247209
NM_145064.3(STAC3):c.487G>A (p.Ala163Thr) rs1555194487
NM_145064.3(STAC3):c.491G>C (p.Cys164Ser) rs2037798842
NM_145064.3(STAC3):c.505+6T>G rs2136832342
NM_145064.3(STAC3):c.518G>T (p.Arg173Leu) rs187407788
NM_145064.3(STAC3):c.530T>C (p.Val177Ala)
NM_145064.3(STAC3):c.544C>A (p.Arg182Ser) rs768476164
NM_145064.3(STAC3):c.554T>C (p.Val185Ala) rs2037753047
NM_145064.3(STAC3):c.56G>T (p.Arg19Leu)
NM_145064.3(STAC3):c.583G>A (p.Gly195Arg) rs1382250150
NM_145064.3(STAC3):c.622G>C (p.Glu208Gln) rs2037706930
NM_145064.3(STAC3):c.652G>A (p.Glu218Lys) rs753872266
NM_145064.3(STAC3):c.662C>A (p.Pro221His) rs760547303
NM_145064.3(STAC3):c.670G>A (p.Gly224Arg)
NM_145064.3(STAC3):c.671-10C>G rs983045607
NM_145064.3(STAC3):c.746C>T (p.Ser249Phe) rs760144996
NM_145064.3(STAC3):c.770G>T (p.Arg257Leu) rs2037686346
NM_145064.3(STAC3):c.799G>C (p.Asp267His) rs2136822846
NM_145064.3(STAC3):c.805C>T (p.Pro269Ser)
NM_145064.3(STAC3):c.893C>G (p.Pro298Arg) rs2136821900
NM_145064.3(STAC3):c.904A>T (p.Ile302Phe) rs2136821866
NM_145064.3(STAC3):c.932A>G (p.His311Arg) rs1555193817
NM_145064.3(STAC3):c.935G>A (p.Arg312His) rs2037674310
NM_145064.3(STAC3):c.964G>T (p.Glu322Ter) rs2136821674
NM_145064.3(STAC3):c.969dup (p.Gly324fs)
NM_145064.3(STAC3):c.978C>G (p.Ile326Met) rs754455763
NM_145064.3(STAC3):c.987G>T (p.Lys329Asn) rs1445308443
NM_145064.3(STAC3):c.996+1G>A rs112907880
NM_145064.3(STAC3):c.996+3A>G rs2136821619
NM_145064.3(STAC3):c.996+4G>A rs2037672628
NM_145064.3(STAC3):c.997-1G>C rs779483367
NM_145064.3(STAC3):c.999C>G (p.Ile333Met) rs754352201
NM_152263.4(TPM3):c.118-3T>C rs375206251
NM_152263.4(TPM3):c.118-3_118-2del
NM_152263.4(TPM3):c.118C>G (p.Leu40Val) rs1160675914
NM_152263.4(TPM3):c.118C>T (p.Leu40=)
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn) rs1663671899
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys) rs2148294608
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)
NM_152263.4(TPM3):c.212A>T (p.Lys71Met) rs2148294477
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del) rs2148294430
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn) rs2148257542
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln) rs769493959
NM_152263.4(TPM3):c.412G>C (p.Asp138His) rs2148242185
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr) rs199474714
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly) rs1661790334
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met) rs2148235398
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)
NM_152263.4(TPM3):c.705+12G>T
NM_152263.4(TPM3):c.706-2dup rs1085307588
NM_152263.4(TPM3):c.706-3C>T rs750493083
NM_152263.4(TPM3):c.706-6C>T rs1661447571
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys) rs1661445206
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
NM_152263.4(TPM3):c.760A>G (p.Ile254Val) rs1553248513
NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)
NM_152263.4(TPM3):c.775+6G>T
NM_152263.4(TPM3):c.776-18G>T
NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys) rs1663696530
NM_152263.4(TPM3):c.88C>G (p.Gln30Glu) rs1160965388
NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)
NM_152393.4(KLHL40):c.1007A>G (p.Asn336Ser) rs1225875238
NM_152393.4(KLHL40):c.1016A>G (p.Tyr339Cys)
NM_152393.4(KLHL40):c.104G>A (p.Cys35Tyr) rs866611021
NM_152393.4(KLHL40):c.1053C>A (p.His351Gln) rs61736693
NM_152393.4(KLHL40):c.1057A>C (p.Ser353Arg)
NM_152393.4(KLHL40):c.1090G>C (p.Ala364Pro) rs1559613938
NM_152393.4(KLHL40):c.1110C>A (p.Asn370Lys) rs201966674
NM_152393.4(KLHL40):c.1110C>G (p.Asn370Lys)
NM_152393.4(KLHL40):c.1111G>C (p.Glu371Gln) rs771203108
NM_152393.4(KLHL40):c.1118A>T (p.Asn373Ile) rs779105816
NM_152393.4(KLHL40):c.1132A>T (p.Met378Leu) rs1697280326
NM_152393.4(KLHL40):c.1136_1137delinsAA (p.Ser379Lys) rs2125844947
NM_152393.4(KLHL40):c.1153-3C>A rs767265252
NM_152393.4(KLHL40):c.1183A>G (p.Met395Val) rs199854093
NM_152393.4(KLHL40):c.1193T>G (p.Leu398Arg)
NM_152393.4(KLHL40):c.119G>A (p.Gly40Asp) rs1575218183
NM_152393.4(KLHL40):c.1231C>A (p.Leu411Ile)
NM_152393.4(KLHL40):c.1253G>T (p.Gly418Val) rs1697303545
NM_152393.4(KLHL40):c.125G>T (p.Arg42Leu) rs907216548
NM_152393.4(KLHL40):c.1263G>C (p.Glu421Asp) rs771421442
NM_152393.4(KLHL40):c.1279C>A (p.Arg427Ser)
NM_152393.4(KLHL40):c.1280G>A (p.Arg427His)
NM_152393.4(KLHL40):c.1294G>T (p.Val432Phe) rs759601864
NM_152393.4(KLHL40):c.1315T>A (p.Ser439Thr)
NM_152393.4(KLHL40):c.1370T>A (p.Val457Glu) rs1559614662
NM_152393.4(KLHL40):c.1372_1383del (p.Leu458_Met461del) rs1553680747
NM_152393.4(KLHL40):c.1373T>C (p.Leu458Pro) rs1697313619
NM_152393.4(KLHL40):c.1383G>C (p.Met461Ile) rs762113138
NM_152393.4(KLHL40):c.1407C>T (p.Gly469=) rs1575220363
NM_152393.4(KLHL40):c.140A>T (p.His47Leu) rs759817120
NM_152393.4(KLHL40):c.1412_1415delinsC (p.Gly471_Ser472delinsAla) rs1427058930
NM_152393.4(KLHL40):c.1418A>G (p.Asp473Gly) rs1697314863
NM_152393.4(KLHL40):c.1422-3C>A rs1697317994
NM_152393.4(KLHL40):c.1444G>A (p.Val482Ile)
NM_152393.4(KLHL40):c.1447T>C (p.Tyr483His)
NM_152393.4(KLHL40):c.1451A>T (p.Asp484Val) rs2125845564
NM_152393.4(KLHL40):c.148G>A (p.Val50Met) rs1004240706
NM_152393.4(KLHL40):c.148G>T (p.Val50Leu) rs1004240706
NM_152393.4(KLHL40):c.1503_1504delinsCG (p.Leu502Val) rs2125845587
NM_152393.4(KLHL40):c.1504C>A (p.Leu502Ile) rs766195312
NM_152393.4(KLHL40):c.1513G>A (p.Ala505Thr)
NM_152393.4(KLHL40):c.1528G>A (p.Gly510Ser) rs2125845594
NM_152393.4(KLHL40):c.1532G>A (p.Arg511His)
NM_152393.4(KLHL40):c.1547C>T (p.Ala516Val)
NM_152393.4(KLHL40):c.1552G>A (p.Val518Ile) rs1697321354
NM_152393.4(KLHL40):c.1552G>T (p.Val518Phe) rs1697321354
NM_152393.4(KLHL40):c.1574G>C (p.Ser525Thr)
NM_152393.4(KLHL40):c.1598C>T (p.Thr533Ile) rs2125845619
NM_152393.4(KLHL40):c.1601A>G (p.Asp534Gly) rs1697322389
NM_152393.4(KLHL40):c.1607A>G (p.Lys536Arg)
NM_152393.4(KLHL40):c.1618T>A (p.Phe540Ile) rs2125846077
NM_152393.4(KLHL40):c.1624G>T (p.Ala542Ser) rs1434763715
NM_152393.4(KLHL40):c.1628T>C (p.Phe543Ser) rs2125846086
NM_152393.4(KLHL40):c.164G>A (p.Ser55Asn) rs1697260624
NM_152393.4(KLHL40):c.1704G>A (p.Leu568=) rs1697354849
NM_152393.4(KLHL40):c.1727T>C (p.Val576Ala)
NM_152393.4(KLHL40):c.1755G>A (p.Arg585=)
NM_152393.4(KLHL40):c.1761C>G (p.Asn587Lys) rs34020089
NM_152393.4(KLHL40):c.1783G>A (p.Gly595Ser)
NM_152393.4(KLHL40):c.1792C>T (p.Arg598Trp) rs767572121
NM_152393.4(KLHL40):c.1793G>C (p.Arg598Pro) rs775821505
NM_152393.4(KLHL40):c.1801G>T (p.Ala601Ser) rs144659891
NM_152393.4(KLHL40):c.1814G>A (p.Gly605Asp)
NM_152393.4(KLHL40):c.1823T>C (p.Phe608Ser)
NM_152393.4(KLHL40):c.1834C>T (p.Arg612Trp)
NM_152393.4(KLHL40):c.1849_1850inv (p.Cys617His)
NM_152393.4(KLHL40):c.1854_1857del (p.Thr619fs) rs377241839
NM_152393.4(KLHL40):c.1858A>C (p.Lys620Gln) rs751003619
NM_152393.4(KLHL40):c.197C>T (p.Pro66Leu) rs200810691
NM_152393.4(KLHL40):c.221T>C (p.Leu74Pro)
NM_152393.4(KLHL40):c.22G>A (p.Ala8Thr) rs772847156
NM_152393.4(KLHL40):c.22_33del (p.Ala8_Gln11del) rs2125844451
NM_152393.4(KLHL40):c.23C>T (p.Ala8Val)
NM_152393.4(KLHL40):c.248C>T (p.Ala83Val) rs1246685748
NM_152393.4(KLHL40):c.273A>G (p.Thr91=) rs1419343736
NM_152393.4(KLHL40):c.289G>T (p.Asp97Tyr)
NM_152393.4(KLHL40):c.295G>A (p.Ala99Thr) rs2125844586
NM_152393.4(KLHL40):c.344C>A (p.Ser115Tyr)
NM_152393.4(KLHL40):c.353C>T (p.Thr118Ile) rs2125844609
NM_152393.4(KLHL40):c.359G>C (p.Cys120Ser)
NM_152393.4(KLHL40):c.35G>C (p.Arg12Pro) rs748935246
NM_152393.4(KLHL40):c.361G>C (p.Val121Leu) rs201494537
NM_152393.4(KLHL40):c.379C>T (p.Arg127Cys) rs1259316854
NM_152393.4(KLHL40):c.412C>T (p.Arg138Cys) rs752541165
NM_152393.4(KLHL40):c.419G>C (p.Gly140Ala)
NM_152393.4(KLHL40):c.433T>A (p.Cys145Ser) rs781200087
NM_152393.4(KLHL40):c.439C>A (p.Arg147Ser)
NM_152393.4(KLHL40):c.458G>A (p.Arg153His)
NM_152393.4(KLHL40):c.499G>T (p.Ala167Ser) rs2125844665
NM_152393.4(KLHL40):c.518C>G (p.Ser173Trp) rs774662858
NM_152393.4(KLHL40):c.519G>A (p.Ser173=) rs1184675035
NM_152393.4(KLHL40):c.52C>G (p.Leu18Val) rs888481518
NM_152393.4(KLHL40):c.581T>A (p.Val194Glu) rs1250586231
NM_152393.4(KLHL40):c.595A>G (p.Met199Val) rs1697270672
NM_152393.4(KLHL40):c.598C>G (p.Arg200Gly) rs548002700
NM_152393.4(KLHL40):c.599G>A (p.Arg200Gln) rs1402508999
NM_152393.4(KLHL40):c.599G>T (p.Arg200Leu)
NM_152393.4(KLHL40):c.601T>C (p.Trp201Arg)
NM_152393.4(KLHL40):c.605C>G (p.Ala202Gly)
NM_152393.4(KLHL40):c.613G>A (p.Gly205Ser) rs746095931
NM_152393.4(KLHL40):c.613G>T (p.Gly205Cys) rs746095931
NM_152393.4(KLHL40):c.619G>C (p.Ala207Pro)
NM_152393.4(KLHL40):c.637C>G (p.Arg213Gly)
NM_152393.4(KLHL40):c.655A>G (p.Thr219Ala)
NM_152393.4(KLHL40):c.673C>T (p.Arg225Cys) rs1697271848
NM_152393.4(KLHL40):c.680G>C (p.Arg227Pro) rs750754016
NM_152393.4(KLHL40):c.680G>T (p.Arg227Leu) rs750754016
NM_152393.4(KLHL40):c.709C>T (p.Arg237Cys)
NM_152393.4(KLHL40):c.719G>A (p.Arg240His) rs894967112
NM_152393.4(KLHL40):c.719G>C (p.Arg240Pro)
NM_152393.4(KLHL40):c.730G>A (p.Val244Met) rs1310855261
NM_152393.4(KLHL40):c.752T>G (p.Leu251Arg) rs928500134
NM_152393.4(KLHL40):c.755_757del (p.Arg252_Lys253delinsGln)
NM_152393.4(KLHL40):c.761T>G (p.Val254Gly) rs1575218760
NM_152393.4(KLHL40):c.768G>C (p.Met256Ile)
NM_152393.4(KLHL40):c.776A>C (p.Asp259Ala) rs2125844799
NM_152393.4(KLHL40):c.77T>G (p.Met26Arg)
NM_152393.4(KLHL40):c.785A>T (p.Glu262Val) rs2125844806
NM_152393.4(KLHL40):c.799A>T (p.Thr267Ser)
NM_152393.4(KLHL40):c.851A>T (p.Asp284Val) rs1697275753
NM_152393.4(KLHL40):c.85C>T (p.His29Tyr) rs370340355
NM_152393.4(KLHL40):c.887AGG[1] (p.Glu297del) rs1575218907
NM_152393.4(KLHL40):c.892G>T (p.Ala298Ser) rs777146142
NM_152393.4(KLHL40):c.901A>G (p.Ile301Val)
NM_152393.4(KLHL40):c.93G>T (p.Lys31Asn)
NM_152393.4(KLHL40):c.976G>A (p.Glu326Lys) rs1697277396
NM_152393.4(KLHL40):c.997C>G (p.Pro333Ala) rs1360434714
NM_198271.5(LMOD3):c.1015A>G (p.Thr339Ala) rs1273623485
NM_198271.5(LMOD3):c.1030C>T (p.Arg344Trp) rs778824655
NM_198271.5(LMOD3):c.1052T>C (p.Met351Thr)
NM_198271.5(LMOD3):c.1079T>C (p.Ile360Thr) rs1559661751
NM_198271.5(LMOD3):c.1081G>A (p.Ala361Thr) rs2092394013
NM_198271.5(LMOD3):c.1088T>G (p.Leu363Arg)
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del) rs727502798
NM_198271.5(LMOD3):c.110C>T (p.Ser37Leu) rs572092252
NM_198271.5(LMOD3):c.1111C>A (p.Leu371Met) rs546583536
NM_198271.5(LMOD3):c.1111C>G (p.Leu371Val) rs546583536
NM_198271.5(LMOD3):c.1157T>C (p.Val386Ala) rs2107526166
NM_198271.5(LMOD3):c.1160C>T (p.Thr387Ile) rs758062503
NM_198271.5(LMOD3):c.1167_1169del (p.Leu390del) rs777461365
NM_198271.5(LMOD3):c.116T>C (p.Met39Thr)
NM_198271.5(LMOD3):c.117G>C (p.Met39Ile) rs2092411983
NM_198271.5(LMOD3):c.1189C>G (p.Gln397Glu) rs1286766855
NM_198271.5(LMOD3):c.1194G>C (p.Arg398Ser) rs1291539118
NM_198271.5(LMOD3):c.1196A>G (p.Gln399Arg) rs2092392939
NM_198271.5(LMOD3):c.1232A>G (p.Lys411Arg)
NM_198271.5(LMOD3):c.1234G>A (p.Glu412Lys) rs2107526085
NM_198271.5(LMOD3):c.1252G>A (p.Ala418Thr)
NM_198271.5(LMOD3):c.1256T>C (p.Met419Thr) rs2092392431
NM_198271.5(LMOD3):c.1259T>C (p.Leu420Ser) rs1553687786
NM_198271.5(LMOD3):c.1268G>C (p.Gly423Ala)
NM_198271.5(LMOD3):c.1280C>T (p.Pro427Leu) rs766271038
NM_198271.5(LMOD3):c.1312A>G (p.Lys438Glu)
NM_198271.5(LMOD3):c.1318G>A (p.Asp440Asn)
NM_198271.5(LMOD3):c.1332G>T (p.Gln444His) rs765589286
NM_198271.5(LMOD3):c.1336T>C (p.Phe446Leu)
NM_198271.5(LMOD3):c.1348C>T (p.Pro450Ser) rs748532243
NM_198271.5(LMOD3):c.1355C>G (p.Pro452Arg)
NM_198271.5(LMOD3):c.1379T>C (p.Val460Ala) rs1310959515
NM_198271.5(LMOD3):c.137C>T (p.Pro46Leu)
NM_198271.5(LMOD3):c.1381C>T (p.Pro461Ser)
NM_198271.5(LMOD3):c.1403T>A (p.Met468Lys) rs2107525869
NM_198271.5(LMOD3):c.1449C>A (p.Asp483Glu) rs2092390552
NM_198271.5(LMOD3):c.1456C>G (p.Arg486Gly) rs769492984
NM_198271.5(LMOD3):c.1456C>T (p.Arg486Trp) rs769492984
NM_198271.5(LMOD3):c.1483C>A (p.Arg495Ser) rs749726841
NM_198271.5(LMOD3):c.1483C>T (p.Arg495Cys) rs749726841
NM_198271.5(LMOD3):c.1484G>T (p.Arg495Leu) rs780071005
NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp)
NM_198271.5(LMOD3):c.149T>A (p.Val50Glu) rs2092411499
NM_198271.5(LMOD3):c.1529A>C (p.Asn510Thr) rs538402410
NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser)
NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile) rs2107525731
NM_198271.5(LMOD3):c.1550C>T (p.Thr517Met) rs778825271
NM_198271.5(LMOD3):c.1579C>A (p.Pro527Thr) rs373480967
NM_198271.5(LMOD3):c.1593A>C (p.Glu531Asp) rs749113549
NM_198271.5(LMOD3):c.1598C>T (p.Thr533Ile) rs2092389118
NM_198271.5(LMOD3):c.1600C>G (p.Pro534Ala) rs2092389107
NM_198271.5(LMOD3):c.1606G>C (p.Asp536His) rs536143048
NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val)
NM_198271.5(LMOD3):c.160C>G (p.Gln54Glu) rs780274932
NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn)
NM_198271.5(LMOD3):c.1656+12G>T
NM_198271.5(LMOD3):c.1661A>G (p.Gln554Arg) rs2092336742
NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg)
NM_198271.5(LMOD3):c.1670A>C (p.Lys557Thr) rs2092336619
NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala) rs562551827
NM_198271.5(LMOD3):c.1676_1677del (p.Leu559fs) rs2092336582
NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?) rs1575869958
NM_198271.5(LMOD3):c.169C>A (p.Gln57Lys) rs1559663262
NM_198271.5(LMOD3):c.17G>C (p.Arg6Thr) rs1185485203
NM_198271.5(LMOD3):c.17G>T (p.Arg6Ile)
NM_198271.5(LMOD3):c.203A>G (p.His68Arg) rs752432695
NM_198271.5(LMOD3):c.226T>C (p.Tyr76His)
NM_198271.5(LMOD3):c.230G>T (p.Trp77Leu) rs2092410842
NM_198271.5(LMOD3):c.263A>T (p.Glu88Val) rs1289180080
NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly)
NM_198271.5(LMOD3):c.272C>T (p.Pro91Leu)
NM_198271.5(LMOD3):c.307G>A (p.Glu103Lys)
NM_198271.5(LMOD3):c.370A>G (p.Asn124Asp)
NM_198271.5(LMOD3):c.385G>T (p.Ala129Ser) rs1392468825
NM_198271.5(LMOD3):c.390T>G (p.Asn130Lys) rs190846774
NM_198271.5(LMOD3):c.400T>C (p.Ser134Pro) rs1283065889
NM_198271.5(LMOD3):c.403A>C (p.Lys135Gln)
NM_198271.5(LMOD3):c.410G>A (p.Ser137Asn) rs1452040409
NM_198271.5(LMOD3):c.413G>A (p.Ser138Asn) rs2092399518
NM_198271.5(LMOD3):c.413G>T (p.Ser138Ile) rs2092399518
NM_198271.5(LMOD3):c.430G>A (p.Asp144Asn)
NM_198271.5(LMOD3):c.432TGAAGAAGA[1] (p.144DEE[1]) rs1179727503
NM_198271.5(LMOD3):c.43G>A (p.Asp15Asn)
NM_198271.5(LMOD3):c.43G>C (p.Asp15His) rs762330680
NM_198271.5(LMOD3):c.441_443del (p.Asp147del) rs2107526849
NM_198271.5(LMOD3):c.444AGA[2] (p.Glu150_Glu151del) rs753459417
NM_198271.5(LMOD3):c.444AGA[3] (p.Glu151del) rs753459417
NM_198271.5(LMOD3):c.453_458del (p.Glu151_Asp152del) rs2092399265
NM_198271.5(LMOD3):c.456T>A (p.Asp152Glu) rs1388186593
NM_198271.5(LMOD3):c.456TGA[5] (p.Asp157_Glu158insAsp)
NM_198271.5(LMOD3):c.456TGA[7] (p.Asp155_Asp157dup) rs752238157
NM_198271.5(LMOD3):c.468C>A (p.Asp156Glu) rs537602397
NM_198271.5(LMOD3):c.468CGA[1] (p.Asp157del) rs759855873
NM_198271.5(LMOD3):c.46GAG[1] (p.Glu17del) rs770015687
NM_198271.5(LMOD3):c.474A>T (p.Glu158Asp)
NM_198271.5(LMOD3):c.481G>A (p.Asp161Asn) rs1019240148
NM_198271.5(LMOD3):c.506C>G (p.Thr169Arg) rs181564355
NM_198271.5(LMOD3):c.521A>T (p.Glu174Val) rs1559662229
NM_198271.5(LMOD3):c.523G>A (p.Gly175Ser) rs2092398483
NM_198271.5(LMOD3):c.545G>T (p.Arg182Ile) rs2107526736
NM_198271.5(LMOD3):c.547A>G (p.Asn183Asp)
NM_198271.5(LMOD3):c.563G>A (p.Cys188Tyr)
NM_198271.5(LMOD3):c.56A>G (p.Asn19Ser) rs769663073
NM_198271.5(LMOD3):c.611A>T (p.Glu204Val) rs2107526679
NM_198271.5(LMOD3):c.633A>C (p.Lys211Asn)
NM_198271.5(LMOD3):c.641C>T (p.Ser214Leu)
NM_198271.5(LMOD3):c.667C>G (p.Leu223Val) rs2092397307
NM_198271.5(LMOD3):c.671A>G (p.Asp224Gly) rs898638017
NM_198271.5(LMOD3):c.685A>G (p.Lys229Glu) rs2107526606
NM_198271.5(LMOD3):c.695C>T (p.Thr232Ile) rs2107526596
NM_198271.5(LMOD3):c.761A>G (p.Asp254Gly) rs905218627
NM_198271.5(LMOD3):c.777C>A (p.Asn259Lys) rs2107526531
NM_198271.5(LMOD3):c.779T>C (p.Leu260Pro) rs1553687898
NM_198271.5(LMOD3):c.806A>G (p.Glu269Gly) rs2107526495
NM_198271.5(LMOD3):c.839A>G (p.Lys280Arg) rs1435079305
NM_198271.5(LMOD3):c.862A>C (p.Ser288Arg) rs2092395759
NM_198271.5(LMOD3):c.872A>C (p.Asn291Thr)
NM_198271.5(LMOD3):c.875T>C (p.Val292Ala) rs1575880432
NM_198271.5(LMOD3):c.89A>C (p.Glu30Ala) rs1314021691
NM_198271.5(LMOD3):c.961T>C (p.Phe321Leu) rs2092395041
NM_198271.5(LMOD3):c.976G>C (p.Gly326Arg) rs2107526347
NM_198271.5(LMOD3):c.980T>C (p.Ile327Thr)
NM_198271.5(LMOD3):c.985G>A (p.Ala329Thr)
NM_198271.5(LMOD3):c.990C>G (p.Ile330Met)
NM_198859.4(PRICKLE2):c.1006C>T (p.Arg336Cys)
NM_198859.4(PRICKLE2):c.1007G>A (p.Arg336His) rs147289291
NM_198859.4(PRICKLE2):c.1007G>T (p.Arg336Leu) rs147289291
NM_198859.4(PRICKLE2):c.1010G>A (p.Ser337Asn) rs750388947
NM_198859.4(PRICKLE2):c.1010G>C (p.Ser337Thr) rs750388947
NM_198859.4(PRICKLE2):c.1033G>A (p.Gly345Ser)
NM_198859.4(PRICKLE2):c.1055T>G (p.Leu352Arg)
NM_198859.4(PRICKLE2):c.1059C>A (p.Asn353Lys)
NM_198859.4(PRICKLE2):c.1090C>T (p.Arg364Trp)
NM_198859.4(PRICKLE2):c.1091G>C (p.Arg364Pro)
NM_198859.4(PRICKLE2):c.1175C>A (p.Pro392His) rs2077472798
NM_198859.4(PRICKLE2):c.1184G>A (p.Arg395Lys) rs772212890
NM_198859.4(PRICKLE2):c.1189C>T (p.Arg397Trp)
NM_198859.4(PRICKLE2):c.1208A>T (p.Tyr403Phe)
NM_198859.4(PRICKLE2):c.1241G>A (p.Ser414Asn) rs2077471786
NM_198859.4(PRICKLE2):c.1310C>T (p.Ala437Val) rs769254046
NM_198859.4(PRICKLE2):c.1316C>T (p.Pro439Leu) rs2107015374
NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys) rs770462303
NM_198859.4(PRICKLE2):c.1328G>A (p.Gly443Asp)
NM_198859.4(PRICKLE2):c.1330A>G (p.Lys444Glu)
NM_198859.4(PRICKLE2):c.1352G>A (p.Arg451Lys) rs2077469469
NM_198859.4(PRICKLE2):c.1369A>C (p.Met457Leu) rs2107015250
NM_198859.4(PRICKLE2):c.1376G>T (p.Gly459Val)
NM_198859.4(PRICKLE2):c.1414T>C (p.Tyr472His)
NM_198859.4(PRICKLE2):c.1421C>T (p.Pro474Leu) rs1292913892
NM_198859.4(PRICKLE2):c.144+6A>G rs2107115161
NM_198859.4(PRICKLE2):c.1445G>A (p.Ser482Asn) rs2107015068
NM_198859.4(PRICKLE2):c.1512G>C (p.Glu504Asp)
NM_198859.4(PRICKLE2):c.1514AGGAAG[2] (p.Glu509_Glu510del) rs759955615
NM_198859.4(PRICKLE2):c.1532G>A (p.Gly511Glu) rs755987796
NM_198859.4(PRICKLE2):c.1534G>T (p.Gly512Cys)
NM_198859.4(PRICKLE2):c.1543A>G (p.Thr515Ala)
NM_198859.4(PRICKLE2):c.1556G>A (p.Arg519Gln)
NM_198859.4(PRICKLE2):c.1562G>A (p.Arg521His)
NM_198859.4(PRICKLE2):c.1621C>T (p.Arg541Trp) rs372400638
NM_198859.4(PRICKLE2):c.1625G>T (p.Gly542Val)
NM_198859.4(PRICKLE2):c.163T>A (p.Cys55Ser) rs781210176
NM_198859.4(PRICKLE2):c.163T>C (p.Cys55Arg) rs781210176
NM_198859.4(PRICKLE2):c.1643C>A (p.Ala548Asp)
NM_198859.4(PRICKLE2):c.1676GTG[1] (p.Gly560del)
NM_198859.4(PRICKLE2):c.1679G>C (p.Gly560Ala) rs749378051
NM_198859.4(PRICKLE2):c.1681G>A (p.Ala561Thr)
NM_198859.4(PRICKLE2):c.1722C>G (p.Asp574Glu)
NM_198859.4(PRICKLE2):c.1747G>A (p.Val583Met)
NM_198859.4(PRICKLE2):c.1797C>A (p.Phe599Leu) rs2076625828
NM_198859.4(PRICKLE2):c.1798C>T (p.Arg600Trp)
NM_198859.4(PRICKLE2):c.17C>T (p.Pro6Leu)
NM_198859.4(PRICKLE2):c.1809G>C (p.Glu603Asp) rs768820914
NM_198859.4(PRICKLE2):c.1817G>A (p.Arg606His)
NM_198859.4(PRICKLE2):c.1832C>A (p.Ala611Asp)
NM_198859.4(PRICKLE2):c.1837C>A (p.Gln613Lys) rs2076625078
NM_198859.4(PRICKLE2):c.1850T>C (p.Met617Thr) rs2076624835
NM_198859.4(PRICKLE2):c.1862_1864del (p.Leu621del) rs2076624394
NM_198859.4(PRICKLE2):c.188A>T (p.Tyr63Phe) rs2077761285
NM_198859.4(PRICKLE2):c.1903T>C (p.Ser635Pro) rs775727925
NM_198859.4(PRICKLE2):c.1907A>T (p.His636Leu)
NM_198859.4(PRICKLE2):c.1914G>T (p.Arg638Ser)
NM_198859.4(PRICKLE2):c.1942G>C (p.Gly648Arg) rs2076623046
NM_198859.4(PRICKLE2):c.1943G>T (p.Gly648Val) rs894055397
NM_198859.4(PRICKLE2):c.1949C>T (p.Ala650Val) rs747788121
NM_198859.4(PRICKLE2):c.1963C>G (p.Pro655Ala)
NM_198859.4(PRICKLE2):c.1976G>A (p.Gly659Asp) rs2076622017
NM_198859.4(PRICKLE2):c.2003G>A (p.Arg668His)
NM_198859.4(PRICKLE2):c.2009G>C (p.Arg670Pro) rs747542060
NM_198859.4(PRICKLE2):c.2020A>G (p.Thr674Ala)
NM_198859.4(PRICKLE2):c.2039G>C (p.Arg680Pro) rs1308230146
NM_198859.4(PRICKLE2):c.2075G>A (p.Arg692His)
NM_198859.4(PRICKLE2):c.2078C>G (p.Ser693Cys)
NM_198859.4(PRICKLE2):c.2080C>A (p.Arg694Ser) rs2076619764
NM_198859.4(PRICKLE2):c.2114G>A (p.Arg705His)
NM_198859.4(PRICKLE2):c.2119G>A (p.Ala707Thr)
NM_198859.4(PRICKLE2):c.2123T>A (p.Ile708Asn) rs2076618722
NM_198859.4(PRICKLE2):c.2126C>T (p.Ser709Phe)
NM_198859.4(PRICKLE2):c.2129G>T (p.Arg710Leu) rs772696632
NM_198859.4(PRICKLE2):c.215G>A (p.Arg72Gln) rs1559550002
NM_198859.4(PRICKLE2):c.2164G>A (p.Asp722Asn)
NM_198859.4(PRICKLE2):c.2173C>A (p.Gln725Lys)
NM_198859.4(PRICKLE2):c.2182C>T (p.Arg728Cys) rs780553569
NM_198859.4(PRICKLE2):c.2183G>T (p.Arg728Leu)
NM_198859.4(PRICKLE2):c.2188C>T (p.Arg730Trp) rs2076617456
NM_198859.4(PRICKLE2):c.2222G>A (p.Arg741Gln)
NM_198859.4(PRICKLE2):c.2234A>G (p.Tyr745Cys) rs1387331875
NM_198859.4(PRICKLE2):c.2237G>T (p.Gly746Val) rs1248829595
NM_198859.4(PRICKLE2):c.2245C>G (p.Pro749Ala) rs2106935115
NM_198859.4(PRICKLE2):c.2266G>A (p.Ala756Thr)
NM_198859.4(PRICKLE2):c.2273A>C (p.Gln758Pro) rs2106935074
NM_198859.4(PRICKLE2):c.2296G>A (p.Gly766Arg)
NM_198859.4(PRICKLE2):c.2297G>T (p.Gly766Val)
NM_198859.4(PRICKLE2):c.2327C>G (p.Ser776Cys) rs2076614473
NM_198859.4(PRICKLE2):c.2342C>T (p.Ser781Phe)
NM_198859.4(PRICKLE2):c.234C>G (p.His78Gln) rs755337354
NM_198859.4(PRICKLE2):c.2357A>G (p.Asn786Ser) rs775899030
NM_198859.4(PRICKLE2):c.2358C>G (p.Asn786Lys) rs765451868
NM_198859.4(PRICKLE2):c.2375G>A (p.Gly792Glu)
NM_198859.4(PRICKLE2):c.2381C>A (p.Pro794His)
NM_198859.4(PRICKLE2):c.2406A>G (p.Arg802=)
NM_198859.4(PRICKLE2):c.2416A>C (p.Ser806Arg)
NM_198859.4(PRICKLE2):c.2426T>G (p.Leu809Arg) rs2106934819
NM_198859.4(PRICKLE2):c.2434A>G (p.Lys812Glu)
NM_198859.4(PRICKLE2):c.2441G>A (p.Ser814Asn)
NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser) rs972442832
NM_198859.4(PRICKLE2):c.2473G>C (p.Gly825Arg) rs2106934728
NM_198859.4(PRICKLE2):c.2486A>G (p.Gln829Arg)
NM_198859.4(PRICKLE2):c.258+5G>A rs1368875653
NM_198859.4(PRICKLE2):c.263G>A (p.Arg88Gln)
NM_198859.4(PRICKLE2):c.308T>C (p.Leu103Pro) rs2077706388
NM_198859.4(PRICKLE2):c.343C>T (p.Arg115Cys) rs752616529
NM_198859.4(PRICKLE2):c.352G>A (p.Val118Ile) rs2107039561
NM_198859.4(PRICKLE2):c.356G>C (p.Arg119Thr) rs2077705419
NM_198859.4(PRICKLE2):c.384_385delinsCT (p.Ile129Phe) rs2107039475
NM_198859.4(PRICKLE2):c.391G>A (p.Glu131Lys) rs1334482107
NM_198859.4(PRICKLE2):c.396+5G>A rs2107039424
NM_198859.4(PRICKLE2):c.39C>G (p.Ile13Met)
NM_198859.4(PRICKLE2):c.413A>T (p.Asn138Ile) rs1247504361
NM_198859.4(PRICKLE2):c.423C>A (p.Asp141Glu) rs762381874
NM_198859.4(PRICKLE2):c.424A>G (p.Ile142Val)
NM_198859.4(PRICKLE2):c.445G>A (p.Ala149Thr) rs202025796
NM_198859.4(PRICKLE2):c.447T>A (p.Ala149=) rs2107034706
NM_198859.4(PRICKLE2):c.461G>T (p.Cys154Phe) rs1553644844
NM_198859.4(PRICKLE2):c.479T>G (p.Phe160Cys)
NM_198859.4(PRICKLE2):c.490G>A (p.Val164Ile) rs886058801
NM_198859.4(PRICKLE2):c.49A>G (p.Met17Val) rs762452354
NM_198859.4(PRICKLE2):c.50T>G (p.Met17Arg)
NM_198859.4(PRICKLE2):c.541A>T (p.Ile181Leu) rs1047934663
NM_198859.4(PRICKLE2):c.545A>T (p.Tyr182Phe) rs1553644782
NM_198859.4(PRICKLE2):c.578C>T (p.Pro193Leu)
NM_198859.4(PRICKLE2):c.581G>A (p.Arg194His) rs1553644768
NM_198859.4(PRICKLE2):c.586G>A (p.Ala196Thr)
NM_198859.4(PRICKLE2):c.589G>A (p.Ala197Thr) rs2107034360
NM_198859.4(PRICKLE2):c.607T>C (p.Phe203Leu)
NM_198859.4(PRICKLE2):c.649A>G (p.Met217Val) rs2077576258
NM_198859.4(PRICKLE2):c.653A>G (p.Lys218Arg) rs2077576224
NM_198859.4(PRICKLE2):c.661T>C (p.Cys221Arg)
NM_198859.4(PRICKLE2):c.670G>A (p.Glu224Lys) rs1199006668
NM_198859.4(PRICKLE2):c.683T>C (p.Val228Ala) rs2077575900
NM_198859.4(PRICKLE2):c.708G>C (p.Met236Ile) rs2077575497
NM_198859.4(PRICKLE2):c.721C>A (p.Pro241Thr) rs2077575277
NM_198859.4(PRICKLE2):c.733C>A (p.His245Asn)
NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu) rs763876127
NM_198859.4(PRICKLE2):c.781C>T (p.His261Tyr) rs2107026575
NM_198859.4(PRICKLE2):c.793G>A (p.Asp265Asn) rs1312810720
NM_198859.4(PRICKLE2):c.860A>G (p.His287Arg) rs1201078531
NM_198859.4(PRICKLE2):c.884G>A (p.Arg295Gln)
NM_198859.4(PRICKLE2):c.896C>T (p.Pro299Leu)
NM_198859.4(PRICKLE2):c.913T>G (p.Phe305Val) rs2077478096
NM_198859.4(PRICKLE2):c.920C>G (p.Ser307Ter) rs2077478027
NM_198859.4(PRICKLE2):c.961T>G (p.Ser321Ala)
NM_198859.4(PRICKLE2):c.97G>T (p.Ala33Ser)
NM_198859.4(PRICKLE2):c.983A>G (p.Asn328Ser) rs2107016123
NM_198859.4(PRICKLE2):c.985G>C (p.Ala329Pro) rs1447125975
NM_198859.4(PRICKLE2):c.98C>G (p.Ala33Gly) rs2078512537
NM_198859.4(PRICKLE2):c.98C>T (p.Ala33Val)
NM_198859.4(PRICKLE2):c.991G>A (p.Ala331Thr) rs1406891675
NM_198859.4(PRICKLE2):c.991G>C (p.Ala331Pro) rs1406891675
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr) rs752472094
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu) rs1569151061
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) rs781304084
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) rs730880031
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) rs1926926045
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val) rs1926925550
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg) rs2145926804
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) rs542541060
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) rs767069606
NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys) rs1555925855
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
NM_213720.3(CHCHD10):c.262-11T>A
NM_213720.3(CHCHD10):c.262-3C>G rs867521564
NM_213720.3(CHCHD10):c.262-4C>G
NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser) rs1926806684
NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp) rs564469294
NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)
NM_213720.3(CHCHD10):c.274del (p.Ala92fs)
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) rs1252496774
NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter) rs1926798746
NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg) rs1348340557
NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg) rs1926995828
NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu) rs776781535
NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)
NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val) rs2145924358
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) rs951686050
NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)
NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)
NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) rs750293377
NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg) rs964013488
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449
NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn) rs1926782349
NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)
NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) rs1601354726
NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)
NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) rs1569149526
NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg) rs2145924084
NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val) rs1926990244
NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)
NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)
NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)
NM_213720.3(CHCHD10):c.41+9G>A
NM_213720.3(CHCHD10):c.410-3C>G
NM_213720.3(CHCHD10):c.410-3C>T rs767630947
NM_213720.3(CHCHD10):c.42-6C>G
NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr) rs1294246273
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) rs1447212146
NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) rs730880030
NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) rs1926950297
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) rs917149626
NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) rs766426370
NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
Single allele

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