ClinVar Miner

List of variants reported as uncertain significance for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5573
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_005573.4(LMNB1):c.*284T>G rs550205958 0.00297
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_014679.5(CEP57):c.677G>A (p.Arg226His) rs143711180 0.00168
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000304.4(PMP22):c.*205C>A rs189734097 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_005573.4(LMNB1):c.*54A>T rs370551700 0.00099
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) rs541606785 0.00070
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_001211.6(BUB1B):c.1003G>C (p.Ala335Pro) rs145184714 0.00056
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_003836.7(DLK1):c.194A>G (p.His65Arg) rs147224004 0.00051
NM_014679.5(CEP57):c.410A>C (p.Glu137Ala) rs147712450 0.00051
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
NM_014679.5(CEP57):c.572T>A (p.Leu191His) rs150399616 0.00048
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser) rs143232848 0.00045
NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu) rs572249702 0.00045
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000304.4(PMP22):c.*542C>T rs184928176 0.00042
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp) rs148159407 0.00041
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_181703.4(GJA5):c.995G>A (p.Arg332His) rs116551187 0.00037
NM_001211.6(BUB1B):c.2389T>G (p.Ser797Ala) rs150707631 0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_000304.4(PMP22):c.*1049C>G rs750733887 0.00035
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) rs148150960 0.00031
NM_019040.5(ELP4):c.*5016T>G rs776894983 0.00031
NM_001002295.2(GATA3):c.-495G>C rs556347150 0.00030
NM_001378414.1(HDAC4):c.1748C>T (p.Pro583Leu) rs201187772 0.00030
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_001002295.2(GATA3):c.*575A>C rs552915242 0.00029
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_001211.6(BUB1B):c.1412C>T (p.Thr471Met) rs117485407 0.00028
NM_001211.6(BUB1B):c.1227A>C (p.Glu409Asp) rs28989188 0.00027
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser) rs201993443 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777 0.00024
NM_014679.5(CEP57):c.422A>G (p.Asn141Ser) rs149196489 0.00024
NM_014679.5(CEP57):c.949C>T (p.His317Tyr) rs140320103 0.00024
NM_022039.4(FBXW4):c.192G>A (p.Thr64=) rs886046647 0.00024
NM_030665.4(RAI1):c.109G>A (p.Gly37Arg) rs201393598 0.00024
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg) rs200719553 0.00024
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_004667.6(HERC2):c.5374A>G (p.Met1792Val) rs138177581 0.00023
NM_000304.4(PMP22):c.*894C>T rs916402753 0.00021
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu) rs149117932 0.00021
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) rs139110744 0.00021
NM_022039.4(FBXW4):c.1657G>A (p.Ala553Thr) rs200476624 0.00021
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186 0.00020
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) rs746812421 0.00020
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) rs141065357 0.00020
NM_000057.4(BLM):c.-65C>T rs577293550 0.00019
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823 0.00019
NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln) rs146538238 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys) rs373090621 0.00018
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_001211.6(BUB1B):c.179+5G>A rs368869250 0.00018
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) rs200115665 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_001002295.2(GATA3):c.*383T>G rs116910852 0.00017
NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile) rs74380950 0.00017
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_000057.4(BLM):c.3397A>G (p.Lys1133Glu) rs145027663 0.00016
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000304.4(PMP22):c.*3C>T rs373690370 0.00016
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile) rs148348158 0.00016
NM_001378414.1(HDAC4):c.155G>A (p.Arg52His) rs777568201 0.00016
NM_014679.5(CEP57):c.25G>A (p.Ala9Thr) rs150749300 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly) rs199786696 0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615 0.00015
NM_000057.4(BLM):c.1702G>C (p.Glu568Gln) rs1360373872 0.00014
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636 0.00014
NM_000304.3(PMP22):c.-223C>T rs549380262 0.00014
NM_001002295.2(GATA3):c.*952G>A rs773450577 0.00014
NM_001211.6(BUB1B):c.2762A>T (p.Gln921Leu) rs141119531 0.00014
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00014
NM_014679.5(CEP57):c.1306G>C (p.Glu436Gln) rs200955895 0.00014
NM_016111.4(TELO2):c.238C>A (p.His80Asn) rs199863486 0.00014
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_022039.4(FBXW4):c.*600G>A rs1022774144 0.00014
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) rs144524958 0.00014
NM_030665.4(RAI1):c.5653G>A (p.Asp1885Asn) rs147844401 0.00014
NM_000057.4(BLM):c.-70G>T rs552669203 0.00013
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys) rs192491153 0.00013
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488 0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_000304.4(PMP22):c.-134G>A rs754758124 0.00013
NM_001002295.2(GATA3):c.990G>A (p.Arg330=) rs374947324 0.00013
NM_001211.6(BUB1B):c.2351C>T (p.Ala784Val) rs142705245 0.00013
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_005573.4(LMNB1):c.*270T>C rs1021872186 0.00013
NM_000057.4(BLM):c.*142T>C rs1040068612 0.00012
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr) rs200364297 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000304.4(PMP22):c.*243C>T rs533987307 0.00012
NM_000501.4(ELN):c.35G>T (p.Gly12Val) rs367634266 0.00012
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) rs768269976 0.00012
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp) rs200293618 0.00012
NM_000057.4(BLM):c.1097T>C (p.Ile366Thr) rs571152089 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075 0.00011
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655 0.00011
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser) rs138332995 0.00011
NM_005573.4(LMNB1):c.*301T>C rs960666703 0.00011
NM_022039.4(FBXW4):c.726-12G>T rs755969920 0.00011
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_024426.6(WT1):c.343C>T (p.Pro115Ser) rs916583720 0.00011
NM_032322.4(RNF135):c.857G>A (p.Arg286His) rs121918162 0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940 0.00010
NM_001211.6(BUB1B):c.2385+4G>C rs202108787 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) rs763399938 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.4966+6G>A rs373129093 0.00010
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_001378120.1(MBD5):c.2257C>A (p.Pro753Thr) rs370340010 0.00009
NM_001378120.1(MBD5):c.935A>T (p.Lys312Ile) rs146031838 0.00009
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu) rs764197422 0.00009
NM_001379200.1(TBX1):c.284C>T (p.Pro95Leu) rs775295536 0.00009
NM_001379200.1(TBX1):c.711C>T (p.His237=) rs200021644 0.00009
NM_014679.5(CEP57):c.1057T>A (p.Ser353Thr) rs544014488 0.00009
NM_014679.5(CEP57):c.818G>T (p.Arg273Met) rs377308306 0.00009
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) rs747298351 0.00009
NM_024426.6(WT1):c.1158G>A (p.Ser386=) rs377446096 0.00009
NM_024426.6(WT1):c.421C>T (p.Pro141Ser) rs750548251 0.00009
NM_030665.4(RAI1):c.3883C>T (p.Pro1295Ser) rs372337877 0.00009
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser) rs141269464 0.00008
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_000304.4(PMP22):c.*544C>T rs1329536994 0.00008
NM_000304.4(PMP22):c.*985C>T rs886052610 0.00008
NM_001002295.2(GATA3):c.*656G>A rs929190496 0.00008
NM_001211.6(BUB1B):c.1123G>A (p.Glu375Lys) rs981618923 0.00008
NM_001211.6(BUB1B):c.2805C>G (p.Ile935Met) rs550832943 0.00008
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303 0.00008
NM_001378120.1(MBD5):c.1564C>T (p.Pro522Ser) rs1161083244 0.00008
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln) rs776268518 0.00008
NM_014679.5(CEP57):c.1123A>C (p.Ser375Arg) rs145833953 0.00008
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr) rs371965329 0.00007
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471 0.00007
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg) rs139773499 0.00007
NM_000501.4(ELN):c.403G>A (p.Gly135Arg) rs373650953 0.00007
NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) rs114359726 0.00007
NM_001379200.1(TBX1):c.95C>T (p.Ala32Val) rs1415687525 0.00007
NM_019040.5(ELP4):c.*2502G>A rs886048185 0.00007
NM_022455.5(NSD1):c.142A>G (p.Met48Val) rs200735877 0.00007
NM_024426.6(WT1):c.*574del rs5030319 0.00007
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp) rs762370059 0.00007
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys) rs887921909 0.00006
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile) rs550417200 0.00006
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr) rs371023654 0.00006
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533 0.00006
NM_000057.4(BLM):c.2315C>T (p.Ala772Val) rs765478171 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn) rs146723808 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509 0.00006
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754 0.00006
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892 0.00006
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893 0.00006
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519 0.00006
NM_000057.4(BLM):c.800-3T>G rs377266736 0.00006
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) rs762053925 0.00006
NM_000501.4(ELN):c.1543G>A (p.Val515Met) rs376258672 0.00006
NM_001002295.2(GATA3):c.-40G>A rs201178566 0.00006
NM_001042424.3(NSD2):c.*1922dup rs886059331 0.00006
NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro) rs374968269 0.00006
NM_001211.6(BUB1B):c.464A>G (p.Tyr155Cys) rs764923350 0.00006
NM_001211.6(BUB1B):c.907G>A (p.Ala303Thr) rs746825915 0.00006
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_001378120.1(MBD5):c.1141T>C (p.Phe381Leu) rs768570356 0.00006
NM_001378414.1(HDAC4):c.1649C>T (p.Pro550Leu) rs151167488 0.00006
NM_001379200.1(TBX1):c.711+3G>A rs376779775 0.00006
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_022039.4(FBXW4):c.1465G>A (p.Glu489Lys) rs770518721 0.00006
NM_022455.5(NSD1):c.113A>G (p.Asn38Ser) rs368524494 0.00006
NM_024426.6(WT1):c.121C>T (p.Pro41Ser) rs926668379 0.00006
NM_024426.6(WT1):c.162C>G (p.Ser54Arg) rs776954184 0.00006
NM_024426.6(WT1):c.29C>T (p.Ala10Val) rs997104313 0.00006
NM_024426.6(WT1):c.689C>T (p.Thr230Met) rs777166391 0.00006
NM_030665.4(RAI1):c.2594T>C (p.Leu865Pro) rs138173790 0.00006
NM_030665.4(RAI1):c.3895G>A (p.Asp1299Asn) rs750911924 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu) rs199889477 0.00006
NM_000057.4(BLM):c.1121A>G (p.His374Arg) rs776225502 0.00005
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr) rs587779879 0.00005
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys) rs201458487 0.00005
NM_000057.4(BLM):c.3136G>A (p.Gly1046Ser) rs373241803 0.00005
NM_000057.4(BLM):c.3229G>A (p.Val1077Met) rs779096973 0.00005
NM_000057.4(BLM):c.361A>C (p.Thr121Pro) rs774608080 0.00005
NM_000057.4(BLM):c.368A>G (p.Gln123Arg) rs371223446 0.00005
NM_000057.4(BLM):c.371A>G (p.Asn124Ser) rs770825975 0.00005
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001211.6(BUB1B):c.2995C>T (p.Arg999Trp) rs201246315 0.00005
NM_001211.6(BUB1B):c.959A>G (p.Glu320Gly) rs771382233 0.00005
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001378120.1(MBD5):c.370G>C (p.Val124Leu) rs751595371 0.00005
NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val) rs572436251 0.00005
NM_001379200.1(TBX1):c.1082C>T (p.Pro361Leu) rs1001921296 0.00005
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln) rs747623105 0.00005
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_004667.6(HERC2):c.8399G>A (p.Arg2800His) rs368463146 0.00005
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His) rs994236399 0.00005
NM_014679.5(CEP57):c.676C>T (p.Arg226Cys) rs144903440 0.00005
NM_014679.5(CEP57):c.751C>T (p.Pro251Ser) rs149293164 0.00005
NM_022455.5(NSD1):c.*1014dup rs886060448 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) rs756022347 0.00005
NM_024426.6(WT1):c.730T>A (p.Phe244Ile) rs771455202 0.00005
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro) rs150051278 0.00005
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys) rs756787389 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn) rs368967327 0.00004
NM_000057.4(BLM):c.1630G>A (p.Glu544Lys) rs752494229 0.00004
NM_000057.4(BLM):c.226C>A (p.Pro76Thr) rs768843912 0.00004
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys) rs145029382 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln) rs748054605 0.00004
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg) rs755784410 0.00004
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg) rs370073229 0.00004
NM_000057.4(BLM):c.3210+2dup rs755232267 0.00004
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu) rs750532596 0.00004
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu) rs373003917 0.00004
NM_000057.4(BLM):c.4061G>C (p.Gly1354Ala) rs891751726 0.00004
NM_000057.4(BLM):c.4102T>A (p.Ser1368Thr) rs587778104 0.00004
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557 0.00004
NM_000057.4(BLM):c.457G>C (p.Asp153His) rs368158276 0.00004
NM_000057.4(BLM):c.722G>A (p.Gly241Asp) rs200897029 0.00004
NM_000057.4(BLM):c.724C>T (p.Pro242Ser) rs768513523 0.00004
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003 0.00004
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091 0.00004
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_001002295.2(GATA3):c.*857A>T rs886047304 0.00004
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) rs746926553 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001211.6(BUB1B):c.1150A>G (p.Ser384Gly) rs202114756 0.00004
NM_001211.6(BUB1B):c.125A>G (p.Gln42Arg) rs368079817 0.00004
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg) rs373256667 0.00004
NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro) rs747886467 0.00004
NM_001211.6(BUB1B):c.1973C>T (p.Thr658Ile) rs373789523 0.00004
NM_001211.6(BUB1B):c.2030G>A (p.Arg677His) rs557521971 0.00004
NM_001211.6(BUB1B):c.2658G>C (p.Arg886Ser) rs146821149 0.00004
NM_001211.6(BUB1B):c.2866A>G (p.Ile956Val) rs775844666 0.00004
NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln) rs377612791 0.00004
NM_001211.6(BUB1B):c.542A>G (p.Gln181Arg) rs375798678 0.00004
NM_001330078.2(NRXN1):c.3365-109902C>T rs113067443 0.00004
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348 0.00004
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893 0.00004
NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val) rs771672174 0.00004
NM_001378120.1(MBD5):c.2196C>G (p.Cys732Trp) rs748328427 0.00004
NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn) rs398124344 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001378120.1(MBD5):c.4732G>A (p.Val1578Ile) rs376249586 0.00004
NM_001379200.1(TBX1):c.1085C>G (p.Ala362Gly) rs569581176 0.00004
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln) rs548714133 0.00004
NM_001379200.1(TBX1):c.113G>A (p.Gly38Asp) rs908778553 0.00004
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr) rs1342897153 0.00004
NM_002397.5(MEF2C):c.34A>G (p.Met12Val) rs965091526 0.00004
NM_002397.5(MEF2C):c.480T>C (p.Pro160=) rs200518765 0.00004
NM_004667.6(HERC2):c.13612G>A (p.Val4538Met) rs149338352 0.00004
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro) rs760029883 0.00004
NM_014679.5(CEP57):c.1256G>A (p.Arg419Gln) rs780215823 0.00004
NM_014679.5(CEP57):c.440T>C (p.Leu147Ser) rs143361668 0.00004
NM_014679.5(CEP57):c.926T>G (p.Leu309Arg) rs567427808 0.00004
NM_016111.4(TELO2):c.1747G>A (p.Val583Ile) rs775272837 0.00004
NM_022039.4(FBXW4):c.*606A>C rs886046641 0.00004
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) rs374740802 0.00004
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp) rs770541943 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) rs758125212 0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_022455.5(NSD1):c.7049T>C (p.Leu2350Pro) rs750785772 0.00004
NM_024426.6(WT1):c.1150G>A (p.Val384Ile) rs977244044 0.00004
NM_024426.6(WT1):c.70C>T (p.Arg24Cys) rs878855086 0.00004
NM_024426.6(WT1):c.925A>G (p.Met309Val) rs754336808 0.00004
NM_030665.4(RAI1):c.2200G>A (p.Ala734Thr) rs780371904 0.00004
NM_030665.4(RAI1):c.4849C>T (p.Pro1617Ser) rs767535015 0.00004
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser) rs1194767470 0.00004
NM_144997.7(FLCN):c.716G>A (p.Arg239His) rs753948488 0.00004
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser) rs749758787 0.00004
NM_000057.4(BLM):c.-29C>T rs886051549 0.00003
NM_000057.4(BLM):c.1100G>A (p.Ser367Asn) rs772176483 0.00003
NM_000057.4(BLM):c.1387G>A (p.Val463Ile) rs1028963834 0.00003
NM_000057.4(BLM):c.1396G>A (p.Gly466Arg) rs747760482 0.00003
NM_000057.4(BLM):c.1544A>C (p.Asn515Thr) rs765536045 0.00003
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537 0.00003
NM_000057.4(BLM):c.2452C>G (p.Arg818Gly) rs1279814185 0.00003
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) rs777842626 0.00003
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg) rs762267785 0.00003
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr) rs1024172175 0.00003
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser) rs770370129 0.00003
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg) rs768010078 0.00003
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val) rs201149857 0.00003
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) rs373832397 0.00003
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891 0.00003
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His) rs753800694 0.00003
NM_000057.4(BLM):c.820A>G (p.Asn274Asp) rs750551907 0.00003
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu) rs140085632 0.00003
NM_001002295.2(GATA3):c.*105A>G rs886047300 0.00003
NM_001002295.2(GATA3):c.*746C>T rs545858251 0.00003
NM_001002295.2(GATA3):c.-369-11C>T rs886047297 0.00003
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met) rs750735308 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln) rs367989965 0.00003
NM_001172509.2(SATB2):c.1660G>A (p.Val554Ile) rs1201673032 0.00003
NM_001172509.2(SATB2):c.2182G>C (p.Ala728Pro) rs377368865 0.00003
NM_001211.6(BUB1B):c.1220T>G (p.Val407Gly) rs750703763 0.00003
NM_001211.6(BUB1B):c.1288+5G>A rs770077868 0.00003
NM_001211.6(BUB1B):c.1535A>G (p.Glu512Gly) rs747225593 0.00003
NM_001211.6(BUB1B):c.1847G>A (p.Arg616His) rs556193159 0.00003
NM_001211.6(BUB1B):c.2072C>T (p.Ser691Leu) rs200060772 0.00003
NM_001211.6(BUB1B):c.2092A>G (p.Ile698Val) rs754481856 0.00003
NM_001211.6(BUB1B):c.2164T>C (p.Trp722Arg) rs758664966 0.00003
NM_001211.6(BUB1B):c.2386-11A>G rs751421137 0.00003
NM_001211.6(BUB1B):c.440T>C (p.Ile147Thr) rs763623522 0.00003
NM_001211.6(BUB1B):c.484T>C (p.Tyr162His) rs77520855 0.00003
NM_001211.6(BUB1B):c.517G>A (p.Ala173Thr) rs756702953 0.00003
NM_001211.6(BUB1B):c.730C>T (p.Arg244Cys) rs867444045 0.00003
NM_001211.6(BUB1B):c.814A>G (p.Ile272Val) rs775204194 0.00003
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val) rs201542547 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001372044.2(SHANK3):c.766C>T (p.Arg256Cys) rs1030097250 0.00003
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala) rs959566693 0.00003
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile) rs748835022 0.00003
NM_001378120.1(MBD5):c.1633T>C (p.Ser545Pro) rs775791197 0.00003
NM_001378120.1(MBD5):c.1849C>T (p.His617Tyr) rs367876435 0.00003
NM_001378120.1(MBD5):c.2101A>G (p.Met701Val) rs398124343 0.00003
NM_001378120.1(MBD5):c.2122A>G (p.Met708Val) rs796052721 0.00003
NM_001378120.1(MBD5):c.2165G>A (p.Gly722Asp) rs1276079664 0.00003
NM_001378120.1(MBD5):c.2371G>A (p.Gly791Arg) rs769480362 0.00003
NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg) rs184415910 0.00003
NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr) rs769330358 0.00003
NM_001378120.1(MBD5):c.2621C>A (p.Ala874Glu) rs907317201 0.00003
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val) rs773522192 0.00003
NM_001378120.1(MBD5):c.4586G>A (p.Arg1529Gln) rs727504000 0.00003
NM_001378120.1(MBD5):c.4697A>G (p.Tyr1566Cys) rs373234696 0.00003
NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn) rs750381367 0.00003
NM_001378120.1(MBD5):c.709A>G (p.Ile237Val) rs751251720 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 0.00003
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu) rs1464455403 0.00003
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val) rs1383914204 0.00003
NM_001379200.1(TBX1):c.351C>T (p.Ala117=) rs757290764 0.00003
NM_004667.6(HERC2):c.7069+3G>A rs778173804 0.00003
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) rs759661460 0.00003
NM_014679.5(CEP57):c.1029T>A (p.Ser343Arg) rs539891523 0.00003
NM_014679.5(CEP57):c.1171G>A (p.Val391Ile) rs776303543 0.00003
NM_014679.5(CEP57):c.304A>G (p.Ile102Val) rs760541284 0.00003
NM_014679.5(CEP57):c.37C>T (p.His13Tyr) rs770949915 0.00003
NM_014679.5(CEP57):c.701T>G (p.Leu234Trp) rs750192070 0.00003
NM_019040.5(ELP4):c.*1877A>G rs745626044 0.00003
NM_019040.5(ELP4):c.*3504T>C rs886048187 0.00003
NM_019040.5(ELP4):c.*3920C>T rs886048191 0.00003
NM_022039.4(FBXW4):c.1549C>T (p.Arg517Trp) rs140286143 0.00003
NM_022455.5(NSD1):c.*4596del rs886060459 0.00003
NM_022455.5(NSD1):c.1224A>G (p.Gly408=) rs587784069 0.00003
NM_022455.5(NSD1):c.2032A>G (p.Met678Val) rs773904155 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser) rs372004424 0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) rs147235302 0.00003
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile) rs774169673 0.00003
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg) rs539453877 0.00003
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile) rs770120153 0.00003
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His) rs575229932 0.00003
NM_024426.6(WT1):c.1123C>T (p.Arg375Cys) rs1172760612 0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His) rs554416372 0.00003
NM_024426.6(WT1):c.1142C>T (p.Pro381Leu) rs1014605516 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_024426.6(WT1):c.151del (p.Ala51fs) rs776155094 0.00003
NM_024426.6(WT1):c.397C>A (p.Pro133Thr) rs1202603651 0.00003
NM_024426.6(WT1):c.419C>T (p.Pro140Leu) rs1164390603 0.00003
NM_024426.6(WT1):c.475G>A (p.Glu159Lys) rs768165877 0.00003
NM_024426.6(WT1):c.661+6T>C rs557166021 0.00003
NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln) rs200001615 0.00003
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys) rs758637644 0.00003
NM_032322.4(RNF135):c.727C>T (p.Gln243Ter) rs121918161 0.00003
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly) rs556510460 0.00003
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg) rs150439088 0.00003
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln) rs369115472 0.00003
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln) rs748878853 0.00003
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser) rs775149348 0.00003
NM_144997.7(FLCN):c.536G>A (p.Arg179Gln) rs369906553 0.00003
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser) rs774491699 0.00003
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys) rs558699420 0.00003
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr) rs769250170 0.00003
NM_144997.7(FLCN):c.779+5C>T rs745645385 0.00003
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr) rs556577644 0.00002
NM_000057.4(BLM):c.1208A>G (p.Gln403Arg) rs375342874 0.00002
NM_000057.4(BLM):c.1235C>T (p.Thr412Met) rs775209685 0.00002
NM_000057.4(BLM):c.124T>C (p.Ser42Pro) rs1291378382 0.00002
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro) rs1033751385 0.00002
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) rs374569385 0.00002
NM_000057.4(BLM):c.1964T>C (p.Met655Thr) rs748567176 0.00002
NM_000057.4(BLM):c.203C>A (p.Thr68Asn) rs144134597 0.00002
NM_000057.4(BLM):c.2078G>A (p.Gly693Asp) rs771864442 0.00002
NM_000057.4(BLM):c.2171T>C (p.Val724Ala) rs750687788 0.00002
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn) rs779746222 0.00002
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln) rs763827222 0.00002
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg) rs1454270314 0.00002
NM_000057.4(BLM):c.2633G>C (p.Cys878Ser) rs966788239 0.00002
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg) rs1427273201 0.00002
NM_000057.4(BLM):c.3299T>G (p.Ile1100Arg) rs755282763 0.00002
NM_000057.4(BLM):c.3305A>G (p.His1102Arg) rs778994524 0.00002
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp) rs150784889 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.3760T>G (p.Ser1254Ala) rs781396294 0.00002
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu) rs372134818 0.00002
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr) rs1280067298 0.00002
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys) rs730880251 0.00002
NM_000057.4(BLM):c.395G>A (p.Arg132Gln) rs775197136 0.00002
NM_000057.4(BLM):c.397G>A (p.Asp133Asn) rs762621627 0.00002
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr) rs761320085 0.00002
NM_000057.4(BLM):c.4237T>C (p.Ser1413Pro) rs767443059 0.00002
NM_000057.4(BLM):c.467A>G (p.Asp156Gly) rs772175681 0.00002
NM_000057.4(BLM):c.488C>T (p.Ser163Phe) rs745819553 0.00002
NM_000057.4(BLM):c.493A>T (p.Thr165Ser) rs769575660 0.00002
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr) rs750551907 0.00002
NM_000057.4(BLM):c.914C>G (p.Pro305Arg) rs773421970 0.00002
NM_000304.4(PMP22):c.*174G>A rs1386490077 0.00002
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_001002295.2(GATA3):c.*1029C>T rs530772797 0.00002
NM_001002295.2(GATA3):c.*1072C>A rs886047306 0.00002
NM_001002295.2(GATA3):c.-561G>T rs1486145282 0.00002
NM_001002295.2(GATA3):c.57C>T (p.Leu19=) rs749900784 0.00002
NM_001002295.2(GATA3):c.605G>A (p.Arg202His) rs767671768 0.00002
NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr) rs778421571 0.00002
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001172509.2(SATB2):c.1060A>G (p.Thr354Ala) rs764552856 0.00002
NM_001172509.2(SATB2):c.211G>A (p.Gly71Ser) rs756865617 0.00002
NM_001211.6(BUB1B):c.1262G>A (p.Arg421Gln) rs150983783 0.00002
NM_001211.6(BUB1B):c.1444A>G (p.Ile482Val) rs780725534 0.00002
NM_001211.6(BUB1B):c.1628+4C>T rs1029721957 0.00002
NM_001211.6(BUB1B):c.1706C>T (p.Ser569Leu) rs750961031 0.00002
NM_001211.6(BUB1B):c.1875A>G (p.Ile625Met) rs541881263 0.00002
NM_001211.6(BUB1B):c.2477A>G (p.Tyr826Cys) rs1268467915 0.00002
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181 0.00002
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly) rs755941900 0.00002
NM_001211.6(BUB1B):c.3020C>G (p.Ala1007Gly) rs370506288 0.00002
NM_001211.6(BUB1B):c.3074C>T (p.Thr1025Ile) rs770219125 0.00002
NM_001211.6(BUB1B):c.3082C>G (p.Gln1028Glu) rs2037890025 0.00002
NM_001211.6(BUB1B):c.3113T>C (p.Val1038Ala) rs776542291 0.00002
NM_001211.6(BUB1B):c.341G>A (p.Arg114Gln) rs1372115983 0.00002
NM_001211.6(BUB1B):c.388C>T (p.Arg130Cys) rs587778144 0.00002
NM_001211.6(BUB1B):c.389G>A (p.Arg130His) rs748721987 0.00002
NM_001211.6(BUB1B):c.44T>C (p.Met15Thr) rs1392369693 0.00002
NM_001211.6(BUB1B):c.463T>C (p.Tyr155His) rs761819521 0.00002
NM_001211.6(BUB1B):c.572C>A (p.Ser191Tyr) rs587778145 0.00002
NM_001211.6(BUB1B):c.581G>A (p.Arg194Gln) rs567916146 0.00002
NM_001211.6(BUB1B):c.611C>G (p.Thr204Ser) rs780541154 0.00002
NM_001211.6(BUB1B):c.751+4A>G rs1248348421 0.00002
NM_001211.6(BUB1B):c.892C>T (p.Pro298Ser) rs756759220 0.00002
NM_001211.6(BUB1B):c.922C>G (p.Leu308Val) rs781357180 0.00002
NM_001211.6(BUB1B):c.954C>A (p.Ser318=) rs556678544 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_001378120.1(MBD5):c.1510A>G (p.Met504Val) rs114251920 0.00002
NM_001378120.1(MBD5):c.1873C>T (p.Pro625Ser) rs749574412 0.00002
NM_001378120.1(MBD5):c.2396C>T (p.Ser799Leu) rs759990854 0.00002
NM_001378120.1(MBD5):c.2561A>G (p.Asn854Ser) rs1358383505 0.00002
NM_001378120.1(MBD5):c.2632C>G (p.Pro878Ala) rs752535474 0.00002
NM_001378120.1(MBD5):c.2770A>G (p.Ile924Val) rs150408488 0.00002
NM_001378120.1(MBD5):c.3569C>A (p.Thr1190Asn) rs774999439 0.00002
NM_001378120.1(MBD5):c.379A>C (p.Ser127Arg) rs781432636 0.00002
NM_001378120.1(MBD5):c.3847C>G (p.Pro1283Ala) rs764468729 0.00002
NM_001378120.1(MBD5):c.4138C>T (p.Arg1380Trp) rs142293829 0.00002
NM_001378120.1(MBD5):c.4319G>A (p.Arg1440Gln) rs139042949 0.00002
NM_001378120.1(MBD5):c.476C>T (p.Ser159Phe) rs780774076 0.00002
NM_001378120.1(MBD5):c.4811C>T (p.Ser1604Phe) rs774820392 0.00002
NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly) rs767317924 0.00002
NM_001378120.1(MBD5):c.952T>C (p.Ser318Pro) rs745715010 0.00002
NM_001379200.1(TBX1):c.1186G>C (p.Gly396Arg) rs1377774172 0.00002
NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg) rs767961877 0.00002
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp) rs1177085596 0.00002
NM_001379200.1(TBX1):c.1386C>A (p.His462Gln) rs1172793466 0.00002
NM_001379200.1(TBX1):c.1433C>T (p.Ala478Val) rs757867291 0.00002
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His) rs746250147 0.00002
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg) rs756769832 0.00002
NM_001379200.1(TBX1):c.286G>C (p.Glu96Gln) rs762629442 0.00002
NM_001379200.1(TBX1):c.472G>A (p.Gly158Ser) rs909599095 0.00002
NM_001379200.1(TBX1):c.922G>C (p.Asp308His) rs750330152 0.00002
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser) rs1359119941 0.00002
NM_002397.5(MEF2C):c.1100+3A>G rs779821248 0.00002
NM_004237.4(TRIP13):c.712G>A (p.Asp238Asn) rs769856470 0.00002
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met) rs143464787 0.00002
NM_005573.4(LMNB1):c.1161-6A>G rs765920630 0.00002
NM_005573.4(LMNB1):c.360-8T>C rs376081850 0.00002
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala) rs374998378 0.00002
NM_014679.5(CEP57):c.1214T>C (p.Val405Ala) rs763862458 0.00002
NM_014679.5(CEP57):c.1246A>G (p.Thr416Ala) rs1370845733 0.00002
NM_014679.5(CEP57):c.1292A>C (p.Glu431Ala) rs367799359 0.00002
NM_014679.5(CEP57):c.1354A>C (p.Ser452Arg) rs1328502690 0.00002
NM_014679.5(CEP57):c.1415A>G (p.Glu472Gly) rs554513774 0.00002
NM_014679.5(CEP57):c.1488G>C (p.Leu496Phe) rs756433197 0.00002
NM_014679.5(CEP57):c.226C>G (p.Leu76Val) rs368273217 0.00002
NM_014679.5(CEP57):c.23C>T (p.Ala8Val) rs751018904 0.00002
NM_014679.5(CEP57):c.245G>A (p.Arg82His) rs140149031 0.00002
NM_014679.5(CEP57):c.444A>C (p.Glu148Asp) rs763144202 0.00002
NM_014679.5(CEP57):c.452G>A (p.Arg151Gln) rs774404375 0.00002
NM_014679.5(CEP57):c.458T>C (p.Met153Thr) rs759867272 0.00002
NM_014679.5(CEP57):c.504A>G (p.Gln168=) rs754676360 0.00002
NM_014679.5(CEP57):c.524G>A (p.Arg175Gln) rs768997831 0.00002
NM_014679.5(CEP57):c.581A>G (p.Gln194Arg) rs1467274670 0.00002
NM_014679.5(CEP57):c.628A>G (p.Met210Val) rs374700509 0.00002
NM_014679.5(CEP57):c.670A>G (p.Arg224Gly) rs755140070 0.00002
NM_014679.5(CEP57):c.752C>T (p.Pro251Leu) rs779531903 0.00002
NM_016628.5(WAC):c.140G>A (p.Arg47Gln) rs374821442 0.00002
NM_016628.5(WAC):c.367A>C (p.Lys123Gln) rs949649739 0.00002
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu) rs780179136 0.00002
NM_022455.5(NSD1):c.209T>G (p.Ile70Ser) rs760029045 0.00002
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) rs774810620 0.00002
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu) rs773591859 0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln) rs753389957 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_022455.5(NSD1):c.7696A>G (p.Thr2566Ala) rs778841211 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_024426.6(WT1):c.1092C>A (p.His364Gln) rs587778756 0.00002
NM_024426.6(WT1):c.1121G>A (p.Arg374Gln) rs772590420 0.00002
NM_024426.6(WT1):c.1304G>A (p.Arg435Gln) rs144788858 0.00002
NM_024426.6(WT1):c.146G>T (p.Gly49Val) rs1475923286 0.00002
NM_024426.6(WT1):c.218A>T (p.Gln73Leu) rs1036899554 0.00002
NM_024426.6(WT1):c.248C>T (p.Ala83Val) rs1278102757 0.00002
NM_024426.6(WT1):c.406C>A (p.Pro136Thr) rs748045691 0.00002
NM_024426.6(WT1):c.586G>A (p.Gly196Ser) rs756501972 0.00002
NM_024426.6(WT1):c.587G>A (p.Gly196Asp) rs753112302 0.00002
NM_024426.6(WT1):c.628T>G (p.Cys210Gly) rs776426005 0.00002
NM_024426.6(WT1):c.736A>G (p.Asn246Asp) rs1285224919 0.00002
NM_024426.6(WT1):c.779C>T (p.Ser260Leu) rs1444869026 0.00002
NM_024426.6(WT1):c.806C>G (p.Pro269Arg) rs756078681 0.00002
NM_024426.6(WT1):c.830C>T (p.Thr277Ile) rs138073760 0.00002
NM_024426.6(WT1):c.887+4G>A rs778673400 0.00002
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln) rs372896387 0.00002
NM_030665.4(RAI1):c.3146C>T (p.Ser1049Leu) rs755152385 0.00002
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val) rs368975225 0.00002
NM_030665.4(RAI1):c.4051G>T (p.Ala1351Ser) rs778842491 0.00002
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu) rs1468262694 0.00002
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val) rs558768145 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln) rs190786280 0.00002
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys) rs557336321 0.00002
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala) rs766801011 0.00002
NM_144997.7(FLCN):c.249+2C>T rs939223011 0.00002
NM_144997.7(FLCN):c.396+6C>T rs747922795 0.00002
NM_000057.4(BLM):c.*14A>G rs746586885 0.00001
NM_000057.4(BLM):c.-59T>A rs1438250598 0.00001
NM_000057.4(BLM):c.1006A>G (p.Ser336Gly) rs1567037959 0.00001
NM_000057.4(BLM):c.1010C>T (p.Thr337Ile) rs1176242752 0.00001
NM_000057.4(BLM):c.1027T>G (p.Ser343Ala) rs776620199 0.00001
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn) rs148701303 0.00001
NM_000057.4(BLM):c.1039A>G (p.Lys347Glu) rs375250788 0.00001
NM_000057.4(BLM):c.106A>G (p.Thr36Ala) rs1714362154 0.00001
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys) rs1374291628 0.00001
NM_000057.4(BLM):c.1117A>G (p.Ile373Val) rs766212032 0.00001
NM_000057.4(BLM):c.1154C>A (p.Thr385Asn) rs202009716 0.00001
NM_000057.4(BLM):c.1156A>G (p.Ile386Val) rs757636363 0.00001
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp) rs770721765 0.00001
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln) rs776516663 0.00001
NM_000057.4(BLM):c.1220+5C>G rs1596229075 0.00001
NM_000057.4(BLM):c.1220G>T (p.Arg407Ile) rs1350192744 0.00001
NM_000057.4(BLM):c.1223G>A (p.Arg408Lys) rs1338335954 0.00001
NM_000057.4(BLM):c.122C>T (p.Thr41Ile) rs533736036 0.00001
NM_000057.4(BLM):c.1238A>T (p.Glu413Val) rs1215111361 0.00001
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu) rs768127491 0.00001
NM_000057.4(BLM):c.1288T>C (p.Tyr430His) rs1314473930 0.00001
NM_000057.4(BLM):c.1303C>T (p.Leu435Phe) rs755256088 0.00001
NM_000057.4(BLM):c.1337C>A (p.Thr446Lys) rs1447973805 0.00001
NM_000057.4(BLM):c.1348A>G (p.Met450Val) rs200385935 0.00001
NM_000057.4(BLM):c.137A>G (p.Asn46Ser) rs1237910576 0.00001
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile) rs1281556342 0.00001
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala) rs1596229797 0.00001
NM_000057.4(BLM):c.1418C>T (p.Thr473Ile) rs761284618 0.00001
NM_000057.4(BLM):c.1432G>A (p.Gly478Arg) rs1490929990 0.00001
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala) rs759810567 0.00001
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys) rs1418071613 0.00001
NM_000057.4(BLM):c.1459T>C (p.Phe487Leu) rs765565919 0.00001
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu) rs764182382 0.00001
NM_000057.4(BLM):c.1480A>G (p.Thr494Ala) rs1596229967 0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe) rs778700833 0.00001
NM_000057.4(BLM):c.1502T>A (p.Val501Glu) rs1247170438 0.00001
NM_000057.4(BLM):c.1541A>G (p.Lys514Arg) rs550463714 0.00001
NM_000057.4(BLM):c.1568A>T (p.Asn523Ile) rs1385248707 0.00001
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro) rs1318049766 0.00001
NM_000057.4(BLM):c.1613C>T (p.Ala538Val) rs778593808 0.00001
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile) rs758161226 0.00001
NM_000057.4(BLM):c.1652A>G (p.Tyr551Cys) rs746571244 0.00001
NM_000057.4(BLM):c.1661A>T (p.Asp554Val) rs1266070433 0.00001
NM_000057.4(BLM):c.1674A>T (p.Ile558=) rs770573584 0.00001
NM_000057.4(BLM):c.1677T>A (p.Asp559Glu) rs780794194 0.00001
NM_000057.4(BLM):c.1708A>T (p.Ile570Leu) rs775758928 0.00001
NM_000057.4(BLM):c.1724C>T (p.Ala575Val) rs774551420 0.00001
NM_000057.4(BLM):c.1739C>G (p.Ser580Cys) rs1895974290 0.00001
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) rs587778108 0.00001
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys) rs765187809 0.00001
NM_000057.4(BLM):c.1769G>C (p.Gly590Ala) rs758250947 0.00001
NM_000057.4(BLM):c.1771C>T (p.Arg591Trp) rs777647725 0.00001
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln) rs28385012 0.00001
NM_000057.4(BLM):c.1774C>T (p.Pro592Ser) rs1197143678 0.00001
NM_000057.4(BLM):c.1784C>T (p.Ser595Leu) rs138943954 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.1821T>G (p.Cys607Trp) rs1207886252 0.00001
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643 0.00001
NM_000057.4(BLM):c.182G>C (p.Arg61Thr) rs1060500644 0.00001
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657 0.00001
NM_000057.4(BLM):c.1841C>T (p.Ala614Val) rs1285727934 0.00001
NM_000057.4(BLM):c.1849A>T (p.Ile617Leu) rs1219301379 0.00001
NM_000057.4(BLM):c.186T>G (p.Asn62Lys) rs146735953 0.00001
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr) rs587778110 0.00001
NM_000057.4(BLM):c.1954A>G (p.Thr652Ala) rs779368359 0.00001
NM_000057.4(BLM):c.1955C>G (p.Thr652Arg) rs1475280501 0.00001
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu) rs758782238 0.00001
NM_000057.4(BLM):c.2041C>T (p.Leu681Phe) rs768774375 0.00001
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp) rs1342307269 0.00001
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala) rs1262628899 0.00001
NM_000057.4(BLM):c.2075G>T (p.Gly692Val) rs1200392081 0.00001
NM_000057.4(BLM):c.2087G>A (p.Ser696Asn) rs773097986 0.00001
NM_000057.4(BLM):c.214T>G (p.Ser72Ala) rs146521411 0.00001
NM_000057.4(BLM):c.2161G>A (p.Val721Ile) rs559554788 0.00001
NM_000057.4(BLM):c.2169A>G (p.Gln723=) rs781635047 0.00001
NM_000057.4(BLM):c.2182A>G (p.Thr728Ala) rs1440142847 0.00001
NM_000057.4(BLM):c.2193T>G (p.Asp731Glu) rs756354696 0.00001
NM_000057.4(BLM):c.2207A>G (p.Tyr736Cys) rs781008303 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2213C>G (p.Thr738Arg) rs1474290499 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682 0.00001
NM_000057.4(BLM):c.2308-5C>T rs957805754 0.00001
NM_000057.4(BLM):c.2321A>G (p.Asn774Ser) rs1245556905 0.00001
NM_000057.4(BLM):c.2326C>T (p.Leu776Phe) rs1483824560 0.00001
NM_000057.4(BLM):c.2340G>A (p.Leu780=) rs756031754 0.00001
NM_000057.4(BLM):c.2347C>T (p.Leu783Phe) rs1430052148 0.00001
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys) rs753635754 0.00001
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys) rs369065966 0.00001
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg) rs778695045 0.00001
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe) rs1060500651 0.00001
NM_000057.4(BLM):c.2372G>A (p.Arg791His) rs1322472868 0.00001
NM_000057.4(BLM):c.2381T>C (p.Ile794Thr) rs373819952 0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg) rs148394770 0.00001
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys) rs759330541 0.00001
NM_000057.4(BLM):c.2423G>A (p.Arg808His) rs1399382807 0.00001
NM_000057.4(BLM):c.2428G>C (p.Asp810His) rs765143263 0.00001
NM_000057.4(BLM):c.2446A>G (p.Met816Val) rs751100504 0.00001
NM_000057.4(BLM):c.2447T>A (p.Met816Lys) rs1896237707 0.00001
NM_000057.4(BLM):c.2453G>A (p.Arg818His) rs780514723 0.00001
NM_000057.4(BLM):c.2456A>G (p.Gln819Arg) rs1265964518 0.00001
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465 0.00001
NM_000057.4(BLM):c.2489C>T (p.Thr830Met) rs759545027 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr) rs763918749 0.00001
NM_000057.4(BLM):c.2524C>A (p.Leu842Met) rs1209722688 0.00001
NM_000057.4(BLM):c.2546G>A (p.Arg849Lys) rs780523899 0.00001
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu) rs767638712 0.00001
NM_000057.4(BLM):c.2555+8G>A rs1388713132 0.00001
NM_000057.4(BLM):c.2560A>G (p.Ser854Gly) rs752969832 0.00001
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622 0.00001
NM_000057.4(BLM):c.2635C>G (p.Leu879Val) rs1461606733 0.00001
NM_000057.4(BLM):c.264C>A (p.Asp88Glu) rs757984551 0.00001
NM_000057.4(BLM):c.2656C>A (p.His886Asn) rs765636566 0.00001
NM_000057.4(BLM):c.2657A>C (p.His886Pro) rs1420145471 0.00001
NM_000057.4(BLM):c.2662T>C (p.Tyr888His) rs758696992 0.00001
NM_000057.4(BLM):c.2674A>G (p.Ile892Val) rs764587569 0.00001
NM_000057.4(BLM):c.2717A>T (p.Asp906Val) rs996189487 0.00001
NM_000057.4(BLM):c.2732A>G (p.Asp911Gly) rs1596252149 0.00001
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) rs372013507 0.00001
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151 0.00001
NM_000057.4(BLM):c.2803A>G (p.Ile935Val) rs774916971 0.00001
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp) rs1422513540 0.00001
NM_000057.4(BLM):c.2827A>G (p.Ile943Val) rs1301812486 0.00001
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu) rs962069708 0.00001
NM_000057.4(BLM):c.2872G>A (p.Val958Met) rs775006576 0.00001
NM_000057.4(BLM):c.2876G>A (p.Arg959Gln) rs772585415 0.00001
NM_000057.4(BLM):c.2894C>G (p.Ser965Cys) rs1567056595 0.00001
NM_000057.4(BLM):c.2915G>T (p.Gly972Val) rs150475674 0.00001
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu) rs757148522 0.00001
NM_000057.4(BLM):c.2956A>G (p.Ile986Val) rs1567056667 0.00001
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser) rs371418699 0.00001
NM_000057.4(BLM):c.2983T>C (p.Tyr995His) rs142723411 0.00001
NM_000057.4(BLM):c.2987A>G (p.His996Arg) rs1451226538 0.00001
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr) rs772671554 0.00001
NM_000057.4(BLM):c.3017T>C (p.Met1006Thr) rs1896890020 0.00001
NM_000057.4(BLM):c.3019+6C>G rs773494621 0.00001
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile) rs1244649224 0.00001
NM_000057.4(BLM):c.302G>C (p.Arg101Thr) rs781707344 0.00001
NM_000057.4(BLM):c.3076A>G (p.Met1026Val) rs766225961 0.00001
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile) rs1300299815 0.00001
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647 0.00001
NM_000057.4(BLM):c.3103G>C (p.Glu1035Gln) rs764965627 0.00001
NM_000057.4(BLM):c.3110G>A (p.Arg1037Lys) rs990520268 0.00001
NM_000057.4(BLM):c.311C>T (p.Ser104Leu) rs367543030 0.00001
NM_000057.4(BLM):c.3131A>G (p.Tyr1044Cys) rs747571272 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3172C>G (p.His1058Asp) rs1351087442 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) rs794727180 0.00001
NM_000057.4(BLM):c.3221C>T (p.Thr1074Ile) rs144021705 0.00001
NM_000057.4(BLM):c.3226G>A (p.Asp1076Asn) rs1306187879 0.00001
NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly) rs776714693 0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000057.4(BLM):c.3271C>T (p.His1091Tyr) rs766959096 0.00001
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu) rs367543017 0.00001
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys) rs912777535 0.00001
NM_000057.4(BLM):c.3298A>G (p.Ile1100Val) rs1897079693 0.00001
NM_000057.4(BLM):c.329A>G (p.Asp110Gly) rs1292239409 0.00001
NM_000057.4(BLM):c.3307G>A (p.Val1103Ile) rs748331529 0.00001
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala) rs1481919924 0.00001
NM_000057.4(BLM):c.3317C>G (p.Ser1106Cys) rs769834593 0.00001
NM_000057.4(BLM):c.3331A>G (p.Met1111Val) rs1169507483 0.00001
NM_000057.4(BLM):c.3341T>C (p.Leu1114Pro) rs1444338168 0.00001
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly) rs751765688 0.00001
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln) rs771776126 0.00001
NM_000057.4(BLM):c.343C>T (p.Pro115Ser) rs1173491187 0.00001
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr) rs1378138456 0.00001
NM_000057.4(BLM):c.344C>T (p.Pro115Leu) rs371100621 0.00001
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe) rs1469527799 0.00001
NM_000057.4(BLM):c.3454G>T (p.Asp1152Tyr) rs1156919580 0.00001
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His) rs752389778 0.00001
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser) rs1237460907 0.00001
NM_000057.4(BLM):c.3491A>G (p.Asn1164Ser) rs751855048 0.00001
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr) rs777492549 0.00001
NM_000057.4(BLM):c.3509A>C (p.Tyr1170Ser) rs746692894 0.00001
NM_000057.4(BLM):c.353T>C (p.Val118Ala) rs768933887 0.00001
NM_000057.4(BLM):c.3558+3A>G rs766386042 0.00001
NM_000057.4(BLM):c.3559G>A (p.Val1187Ile) rs547814390 0.00001
NM_000057.4(BLM):c.3568A>G (p.Met1190Val) rs764005828 0.00001
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr) rs1555424373 0.00001
NM_000057.4(BLM):c.3572A>G (p.Glu1191Gly) rs1897232513 0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113 0.00001
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val) rs757088548 0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049 0.00001
NM_000057.4(BLM):c.3636A>C (p.Glu1212Asp) rs1897234564 0.00001
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) rs28385142 0.00001
NM_000057.4(BLM):c.3642G>A (p.Met1214Ile) rs377253486 0.00001
NM_000057.4(BLM):c.3655C>G (p.Leu1219Val) rs960821931 0.00001
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile) rs972145772 0.00001
NM_000057.4(BLM):c.3752-13T>G rs778248812 0.00001
NM_000057.4(BLM):c.377C>T (p.Pro126Leu) rs1060500650 0.00001
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val) rs760554566 0.00001
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser) rs1060500645 0.00001
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu) rs1031421025 0.00001
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr) rs757641454 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg) rs587779889 0.00001
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu) rs750865930 0.00001
NM_000057.4(BLM):c.3924A>T (p.Gly1308=) rs1019687102 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000057.4(BLM):c.394C>T (p.Arg132Trp) rs765089689 0.00001
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) rs748943489 0.00001
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile) rs1222912167 0.00001
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu) rs190652985 0.00001
NM_000057.4(BLM):c.4017G>C (p.Met1339Ile) rs1247422719 0.00001
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu) rs766959130 0.00001
NM_000057.4(BLM):c.4024T>C (p.Ser1342Pro) rs1596273687 0.00001
NM_000057.4(BLM):c.4025C>T (p.Ser1342Phe) rs761200006 0.00001
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg) rs1060500646 0.00001
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg) rs945181516 0.00001
NM_000057.4(BLM):c.4076+3A>G rs758564326 0.00001
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu) rs1308799871 0.00001
NM_000057.4(BLM):c.4087A>G (p.Thr1363Ala) rs1897524369 0.00001
NM_000057.4(BLM):c.4088C>T (p.Thr1363Ile) rs1060500649 0.00001
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly) rs759982203 0.00001
NM_000057.4(BLM):c.4094G>A (p.Arg1365Lys) rs753011288 0.00001
NM_000057.4(BLM):c.4116A>C (p.Lys1372Asn) rs753664070 0.00001
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr) rs1555425416 0.00001
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg) rs747834576 0.00001
NM_000057.4(BLM):c.4144G>C (p.Ala1382Pro) rs771686396 0.00001
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp) rs548600410 0.00001
NM_000057.4(BLM):c.4198G>A (p.Ala1400Thr) rs370588118 0.00001
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu) rs770313956 0.00001
NM_000057.4(BLM):c.4250C>T (p.Ser1417Leu) rs1897533974 0.00001
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126 0.00001
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503 0.00001
NM_000057.4(BLM):c.470T>C (p.Met157Thr) rs773103759 0.00001
NM_000057.4(BLM):c.472G>A (p.Asp158Asn) rs1210664602 0.00001
NM_000057.4(BLM):c.499A>G (p.Lys167Glu) rs775285496 0.00001
NM_000057.4(BLM):c.506T>G (p.Phe169Cys) rs1013299710 0.00001
NM_000057.4(BLM):c.555A>T (p.Lys185Asn) rs766947105 0.00001
NM_000057.4(BLM):c.566G>A (p.Gly189Asp) rs754306004 0.00001
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568 0.00001
NM_000057.4(BLM):c.577T>C (p.Phe193Leu) rs779348937 0.00001
NM_000057.4(BLM):c.607A>G (p.Thr203Ala) rs1060500633 0.00001
NM_000057.4(BLM):c.632C>T (p.Pro211Leu) rs758478914 0.00001
NM_000057.4(BLM):c.635C>T (p.Ser212Phe) rs777938065 0.00001
NM_000057.4(BLM):c.641A>G (p.Glu214Gly) rs1230930956 0.00001
NM_000057.4(BLM):c.646G>A (p.Glu216Lys) rs779934502 0.00001
NM_000057.4(BLM):c.656A>G (p.Asp219Gly) rs1246909789 0.00001
NM_000057.4(BLM):c.657T>G (p.Asp219Glu) rs1447056195 0.00001
NM_000057.4(BLM):c.671A>C (p.Gln224Pro) rs770111029 0.00001
NM_000057.4(BLM):c.671A>G (p.Gln224Arg) rs770111029 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.700G>A (p.Asp234Asn) rs878853555 0.00001
NM_000057.4(BLM):c.716A>G (p.Asp239Gly) rs751699247 0.00001
NM_000057.4(BLM):c.725C>G (p.Pro242Arg) rs1060500642 0.00001
NM_000057.4(BLM):c.727A>G (p.Ile243Val) rs201722470 0.00001
NM_000057.4(BLM):c.763A>G (p.Ser255Gly) rs1567035814 0.00001
NM_000057.4(BLM):c.790G>A (p.Asp264Asn) rs763195731 0.00001
NM_000057.4(BLM):c.803A>G (p.Asn268Ser) rs763432949 0.00001
NM_000057.4(BLM):c.805A>G (p.Ser269Gly) rs141411463 0.00001
NM_000057.4(BLM):c.896A>G (p.Asp299Gly) rs1418306226 0.00001
NM_000057.4(BLM):c.931G>T (p.Ala311Ser) rs753911420 0.00001
NM_000057.4(BLM):c.98+6T>G rs886051550 0.00001
NM_000057.4(BLM):c.992A>C (p.Lys331Thr) rs1351404875 0.00001
NM_000304.4(PMP22):c.*907C>A rs963622100 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) rs1022583382 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 0.00001
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598 0.00001
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg) rs782359367 0.00001
NM_000501.4(ELN):c.134-16T>C rs782791376 0.00001
NM_000501.4(ELN):c.893T>C (p.Val298Ala) rs782205353 0.00001
NM_001002295.2(GATA3):c.*267G>A rs886047301 0.00001
NM_001002295.2(GATA3):c.*320T>C rs1003189936 0.00001
NM_001002295.2(GATA3):c.-148A>G rs886047299 0.00001
NM_001002295.2(GATA3):c.1173G>A (p.Ser391=) rs150229374 0.00001
NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu) rs752977342 0.00001
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) rs541782074 0.00001
NM_001002295.2(GATA3):c.209C>A (p.Ala70Asp) rs761676499 0.00001
NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr) rs752779081 0.00001
NM_001002295.2(GATA3):c.489G>A (p.Pro163=) rs766774125 0.00001
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) rs1485724723 0.00001
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 0.00001
NM_001089.3(ABCA3):c.4868C>T (p.Ala1623Val) rs577998828 0.00001
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser) rs761104318 0.00001
NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His) rs747873220 0.00001
NM_001172509.2(SATB2):c.1000G>A (p.Ala334Thr) rs754385480 0.00001
NM_001172509.2(SATB2):c.1322T>C (p.Met441Thr) rs1294387707 0.00001
NM_001172509.2(SATB2):c.1379C>A (p.Thr460Asn) rs1329250891 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1402C>A (p.Pro468Thr) rs770212471 0.00001
NM_001172509.2(SATB2):c.1403C>T (p.Pro468Leu) rs746076990 0.00001
NM_001172509.2(SATB2):c.1447A>G (p.Ile483Val) rs1367720345 0.00001
NM_001172509.2(SATB2):c.1671G>C (p.Glu557Asp) rs377609161 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.2047G>A (p.Ala683Thr) rs372032415 0.00001
NM_001172509.2(SATB2):c.2183C>G (p.Ala728Gly) rs140532313 0.00001
NM_001172509.2(SATB2):c.2196G>T (p.Gln732His) rs778160560 0.00001
NM_001172509.2(SATB2):c.389A>G (p.Tyr130Cys) rs372822699 0.00001
NM_001172509.2(SATB2):c.391G>C (p.Val131Leu) rs1689785051 0.00001
NM_001172509.2(SATB2):c.410C>T (p.Ala137Val) rs746240750 0.00001
NM_001172509.2(SATB2):c.638A>G (p.Asn213Ser) rs1371535617 0.00001
NM_001172509.2(SATB2):c.650C>T (p.Thr217Ile) rs777062011 0.00001
NM_001172509.2(SATB2):c.71A>G (p.Lys24Arg) rs1176416627 0.00001
NM_001172509.2(SATB2):c.739G>A (p.Val247Ile) rs767767817 0.00001
NM_001172509.2(SATB2):c.743T>G (p.Leu248Arg) rs200620268 0.00001
NM_001172509.2(SATB2):c.76C>G (p.Pro26Ala) rs1473042227 0.00001
NM_001172509.2(SATB2):c.772A>G (p.Met258Val) rs200074373 0.00001
NM_001172509.2(SATB2):c.799A>G (p.Thr267Ala) rs1410113037 0.00001
NM_001211.6(BUB1B):c.1043C>T (p.Ala348Val) rs545784401 0.00001
NM_001211.6(BUB1B):c.107G>A (p.Arg36Gln) rs534297115 0.00001
NM_001211.6(BUB1B):c.1083T>G (p.Ser361Arg) rs1306309896 0.00001
NM_001211.6(BUB1B):c.1163C>T (p.Ala388Val) rs771602632 0.00001
NM_001211.6(BUB1B):c.1246C>T (p.Arg416Trp) rs755579898 0.00001
NM_001211.6(BUB1B):c.1291G>A (p.Glu431Lys) rs781689041 0.00001
NM_001211.6(BUB1B):c.1299G>C (p.Leu433Phe) rs753178226 0.00001
NM_001211.6(BUB1B):c.137C>G (p.Ala46Gly) rs889926604 0.00001
NM_001211.6(BUB1B):c.1442A>C (p.Gln481Pro) rs1060499944 0.00001
NM_001211.6(BUB1B):c.1451C>G (p.Ser484Cys) rs777814938 0.00001
NM_001211.6(BUB1B):c.1464A>T (p.Lys488Asn) rs368023159 0.00001
NM_001211.6(BUB1B):c.1513G>A (p.Ala505Thr) rs1158168896 0.00001
NM_001211.6(BUB1B):c.1520A>G (p.Glu507Gly) rs750377734 0.00001
NM_001211.6(BUB1B):c.1532C>T (p.Ala511Val) rs758067530 0.00001
NM_001211.6(BUB1B):c.1628+5G>A rs368202270 0.00001
NM_001211.6(BUB1B):c.1642C>T (p.Pro548Ser) rs759527622 0.00001
NM_001211.6(BUB1B):c.1717G>C (p.Val573Leu) rs1390700281 0.00001
NM_001211.6(BUB1B):c.178C>T (p.Arg60Trp) rs748915007 0.00001
NM_001211.6(BUB1B):c.1825T>G (p.Cys609Gly) rs1217885669 0.00001
NM_001211.6(BUB1B):c.1826G>T (p.Cys609Phe) rs1260445282 0.00001
NM_001211.6(BUB1B):c.1919C>T (p.Pro640Leu) rs370388424 0.00001
NM_001211.6(BUB1B):c.1922A>T (p.Glu641Val) rs527987333 0.00001
NM_001211.6(BUB1B):c.1936G>A (p.Val646Ile) rs1349171668 0.00001
NM_001211.6(BUB1B):c.1979A>G (p.Tyr660Cys) rs756309201 0.00001
NM_001211.6(BUB1B):c.1993A>C (p.Ser665Arg) rs776731111 0.00001
NM_001211.6(BUB1B):c.200G>A (p.Arg67Gln) rs781034323 0.00001
NM_001211.6(BUB1B):c.2097A>C (p.Lys699Asn) rs752678855 0.00001
NM_001211.6(BUB1B):c.212G>A (p.Gly71Glu) rs777922307 0.00001
NM_001211.6(BUB1B):c.2132A>G (p.Asn711Ser) rs1416579359 0.00001
NM_001211.6(BUB1B):c.2143+5G>A rs543227658 0.00001
NM_001211.6(BUB1B):c.2144-7C>G rs1409374402 0.00001
NM_001211.6(BUB1B):c.2233A>G (p.Ile745Val) rs763676435 0.00001
NM_001211.6(BUB1B):c.2271G>T (p.Lys757Asn) rs1007572176 0.00001
NM_001211.6(BUB1B):c.229G>A (p.Val77Ile) rs774353130 0.00001
NM_001211.6(BUB1B):c.2309G>A (p.Arg770Gln) rs1422532977 0.00001
NM_001211.6(BUB1B):c.2323T>G (p.Cys775Gly) rs1025942169 0.00001
NM_001211.6(BUB1B):c.2341T>C (p.Phe781Leu) rs368996088 0.00001
NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys) rs760085736 0.00001
NM_001211.6(BUB1B):c.2397A>G (p.Gln799=) rs754363122 0.00001
NM_001211.6(BUB1B):c.2398C>T (p.Pro800Ser) rs139226455 0.00001
NM_001211.6(BUB1B):c.2404C>T (p.Pro802Ser) rs1341275919 0.00001
NM_001211.6(BUB1B):c.240G>A (p.Arg80=) rs772218663 0.00001
NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys) rs1212671249 0.00001
NM_001211.6(BUB1B):c.2506C>T (p.His836Tyr) rs546607638 0.00001
NM_001211.6(BUB1B):c.2508C>G (p.His836Gln) rs181352808 0.00001
NM_001211.6(BUB1B):c.2557T>C (p.Tyr853His) rs1264165576 0.00001
NM_001211.6(BUB1B):c.2560A>G (p.Ile854Val) rs375105548 0.00001
NM_001211.6(BUB1B):c.2572A>G (p.Ile858Val) rs867416581 0.00001
NM_001211.6(BUB1B):c.2608G>A (p.Val870Met) rs1360702866 0.00001
NM_001211.6(BUB1B):c.2693A>G (p.Tyr898Cys) rs757927200 0.00001
NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val) rs145639700 0.00001
NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr) rs950826338 0.00001
NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln) rs751509832 0.00001
NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg) rs781299320 0.00001
NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu) rs1191638586 0.00001
NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys) rs1060499945 0.00001
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala) rs750610809 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr) rs748723428 0.00001
NM_001211.6(BUB1B):c.3076A>G (p.Thr1026Ala) rs771709698 0.00001
NM_001211.6(BUB1B):c.3146T>C (p.Phe1049Ser) rs751744682 0.00001
NM_001211.6(BUB1B):c.322G>A (p.Ala108Thr) rs373830262 0.00001
NM_001211.6(BUB1B):c.343T>C (p.Tyr115His) rs748512524 0.00001
NM_001211.6(BUB1B):c.359G>A (p.Arg120Gln) rs1349349252 0.00001
NM_001211.6(BUB1B):c.368A>G (p.Asn123Ser) rs759232092 0.00001
NM_001211.6(BUB1B):c.430A>G (p.Asn144Asp) rs2037225429 0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_001211.6(BUB1B):c.585A>G (p.Gln195=) rs1595518738 0.00001
NM_001211.6(BUB1B):c.596G>A (p.Arg199Gln) rs779260067 0.00001
NM_001211.6(BUB1B):c.604C>T (p.Arg202Trp) rs746647687 0.00001
NM_001211.6(BUB1B):c.605G>A (p.Arg202Gln) rs768417752 0.00001
NM_001211.6(BUB1B):c.655T>C (p.Ser219Pro) rs893191577 0.00001
NM_001211.6(BUB1B):c.671G>A (p.Arg224Gln) rs760391628 0.00001
NM_001211.6(BUB1B):c.676A>C (p.Thr226Pro) rs587778146 0.00001
NM_001211.6(BUB1B):c.767G>T (p.Arg256Ile) rs531786139 0.00001
NM_001211.6(BUB1B):c.806A>G (p.Asn269Ser) rs1429987495 0.00001
NM_001211.6(BUB1B):c.827A>G (p.Asp276Gly) rs768901850 0.00001
NM_001211.6(BUB1B):c.833A>G (p.Asn278Ser) rs776666761 0.00001
NM_001211.6(BUB1B):c.843G>C (p.Glu281Asp) rs1411409004 0.00001
NM_001211.6(BUB1B):c.895C>G (p.Pro299Ala) rs1263513288 0.00001
NM_001211.6(BUB1B):c.944C>T (p.Thr315Ile) rs1369363382 0.00001
NM_001211.6(BUB1B):c.974G>A (p.Gly325Asp) rs749377720 0.00001
NM_001211.6(BUB1B):c.977A>G (p.Asn326Ser) rs774654439 0.00001
NM_001256447.2(BCAP31):c.716G>A (p.Gly239Asp) rs1557047235 0.00001
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) rs781442387 0.00001
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630 0.00001
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256 0.00001
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=) rs757748286 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001372044.2(SHANK3):c.1144G>T (p.Ala382Ser) rs1234645097 0.00001
NM_001372044.2(SHANK3):c.1312G>A (p.Gly438Ser) rs368073391 0.00001
NM_001372044.2(SHANK3):c.3852C>T (p.Leu1284=) rs753765611 0.00001
NM_001372044.2(SHANK3):c.4600G>A (p.Gly1534Arg) rs1440735830 0.00001
NM_001378120.1(MBD5):c.1012C>T (p.Pro338Ser) rs755505551 0.00001
NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile) rs1201462027 0.00001
NM_001378120.1(MBD5):c.1153G>T (p.Val385Phe) rs1230879827 0.00001
NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu) rs142661175 0.00001
NM_001378120.1(MBD5):c.1372C>A (p.Gln458Lys) rs990365646 0.00001
NM_001378120.1(MBD5):c.1406A>G (p.His469Arg) rs766571687 0.00001
NM_001378120.1(MBD5):c.1420A>G (p.Met474Val) rs577567411 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg) rs116235310 0.00001
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) rs1422887607 0.00001
NM_001378120.1(MBD5):c.1709A>G (p.Asn570Ser) rs1277304345 0.00001
NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser) rs142495834 0.00001
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg) rs1370214658 0.00001
NM_001378120.1(MBD5):c.1909G>T (p.Gly637Trp) rs750882049 0.00001
NM_001378120.1(MBD5):c.1935A>C (p.Arg645Ser) rs775494046 0.00001
NM_001378120.1(MBD5):c.1955A>G (p.Gln652Arg) rs398124342 0.00001
NM_001378120.1(MBD5):c.1969C>T (p.Arg657Trp) rs112334672 0.00001
NM_001378120.1(MBD5):c.1990A>G (p.Thr664Ala) rs142431261 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser) rs983507514 0.00001
NM_001378120.1(MBD5):c.2081G>T (p.Gly694Val) rs1417817158 0.00001
NM_001378120.1(MBD5):c.2140C>G (p.His714Asp) rs886054909 0.00001
NM_001378120.1(MBD5):c.2173G>T (p.Ala725Ser) rs747127657 0.00001
NM_001378120.1(MBD5):c.2213A>G (p.His738Arg) rs528789050 0.00001
NM_001378120.1(MBD5):c.2227A>C (p.Ser743Arg) rs1442226073 0.00001
NM_001378120.1(MBD5):c.2240G>C (p.Ser747Thr) rs1031639264 0.00001
NM_001378120.1(MBD5):c.2272G>A (p.Ala758Thr) rs921434746 0.00001
NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser) rs1294270968 0.00001
NM_001378120.1(MBD5):c.2308C>T (p.His770Tyr) rs778118780 0.00001
NM_001378120.1(MBD5):c.2311A>G (p.Ser771Gly) rs777686665 0.00001
NM_001378120.1(MBD5):c.2330A>G (p.Asn777Ser) rs768601611 0.00001
NM_001378120.1(MBD5):c.2331C>A (p.Asn777Lys) rs865860163 0.00001
NM_001378120.1(MBD5):c.2381G>A (p.Gly794Glu) rs369612300 0.00001
NM_001378120.1(MBD5):c.2384T>A (p.Met795Lys) rs1446479503 0.00001
NM_001378120.1(MBD5):c.2402T>C (p.Met801Thr) rs756231796 0.00001
NM_001378120.1(MBD5):c.2452A>G (p.Thr818Ala) rs139911474 0.00001
NM_001378120.1(MBD5):c.2471T>C (p.Ile824Thr) rs1286239142 0.00001
NM_001378120.1(MBD5):c.2514A>C (p.Glu838Asp) rs1216163190 0.00001
NM_001378120.1(MBD5):c.2522G>A (p.Gly841Asp) rs756065878 0.00001
NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile) rs780490918 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001378120.1(MBD5):c.2740T>G (p.Leu914Val) rs1346667597 0.00001
NM_001378120.1(MBD5):c.2750G>A (p.Ser917Asn) rs748689212 0.00001
NM_001378120.1(MBD5):c.2795A>G (p.His932Arg) rs140228960 0.00001
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg) rs377062993 0.00001
NM_001378120.1(MBD5):c.3673C>A (p.Leu1225Ile) rs776251206 0.00001
NM_001378120.1(MBD5):c.3695C>A (p.Ser1232Tyr) rs1681324168 0.00001
NM_001378120.1(MBD5):c.3758G>A (p.Arg1253Lys) rs758196921 0.00001
NM_001378120.1(MBD5):c.3791G>T (p.Arg1264Ile) rs1553520435 0.00001
NM_001378120.1(MBD5):c.4054G>T (p.Ala1352Ser) rs373177231 0.00001
NM_001378120.1(MBD5):c.4066A>G (p.Met1356Val) rs1057518375 0.00001
NM_001378120.1(MBD5):c.4112G>A (p.Ser1371Asn) rs1037868450 0.00001
NM_001378120.1(MBD5):c.4124C>T (p.Ala1375Val) rs767306594 0.00001
NM_001378120.1(MBD5):c.4133A>G (p.His1378Arg) rs760629404 0.00001
NM_001378120.1(MBD5):c.4168A>G (p.Arg1390Gly) rs773278945 0.00001
NM_001378120.1(MBD5):c.4170G>T (p.Arg1390Ser) rs1312513915 0.00001
NM_001378120.1(MBD5):c.4284A>T (p.Lys1428Asn) rs749348330 0.00001
NM_001378120.1(MBD5):c.428C>T (p.Ala143Val) rs750151785 0.00001
NM_001378120.1(MBD5):c.437G>T (p.Arg146Ile) rs1411318062 0.00001
NM_001378120.1(MBD5):c.4417C>G (p.Leu1473Val) rs1400713495 0.00001
NM_001378120.1(MBD5):c.4447C>A (p.Pro1483Thr) rs142913108 0.00001
NM_001378120.1(MBD5):c.4594C>T (p.Arg1532Trp) rs370659853 0.00001
NM_001378120.1(MBD5):c.4597G>A (p.Gly1533Arg) rs747948310 0.00001
NM_001378120.1(MBD5):c.4601T>C (p.Phe1534Ser) rs755983540 0.00001
NM_001378120.1(MBD5):c.4648C>A (p.Gln1550Lys) rs764472472 0.00001
NM_001378120.1(MBD5):c.4730G>A (p.Ser1577Asn) rs755214586 0.00001
NM_001378120.1(MBD5):c.4820A>T (p.Glu1607Val) rs1470442862 0.00001
NM_001378120.1(MBD5):c.4838C>A (p.Pro1613Gln) rs763299719 0.00001
NM_001378120.1(MBD5):c.4915G>A (p.Glu1639Lys) rs1395912880 0.00001
NM_001378120.1(MBD5):c.4921G>A (p.Asp1641Asn) rs780805788 0.00001
NM_001378120.1(MBD5):c.4924G>A (p.Val1642Ile) rs770196931 0.00001
NM_001378120.1(MBD5):c.4963G>A (p.Val1655Met) rs957554797 0.00001
NM_001378120.1(MBD5):c.5021G>A (p.Arg1674Gln) rs750291645 0.00001
NM_001378120.1(MBD5):c.5036+6C>T rs372049573 0.00001
NM_001378120.1(MBD5):c.5147G>A (p.Arg1716Lys) rs534850589 0.00001
NM_001378120.1(MBD5):c.5179A>G (p.Arg1727Gly) rs1243468520 0.00001
NM_001378120.1(MBD5):c.57A>G (p.Ile19Met) rs757256547 0.00001
NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys) rs777516937 0.00001
NM_001378120.1(MBD5):c.677C>T (p.Ser226Leu) rs1680672960 0.00001
NM_001378120.1(MBD5):c.742G>C (p.Asp248His) rs753529014 0.00001
NM_001378120.1(MBD5):c.801C>G (p.His267Gln) rs747135508 0.00001
NM_001378120.1(MBD5):c.817C>T (p.Leu273Phe) rs776894242 0.00001
NM_001378120.1(MBD5):c.83G>A (p.Arg28His) rs201699340 0.00001
NM_001378120.1(MBD5):c.860C>T (p.Ser287Leu) rs1411303556 0.00001
NM_001378120.1(MBD5):c.932A>C (p.Lys311Thr) rs200561241 0.00001
NM_001378120.1(MBD5):c.962T>C (p.Met321Thr) rs140978568 0.00001
NM_001378120.1(MBD5):c.964G>C (p.Glu322Gln) rs760694122 0.00001
NM_001379200.1(TBX1):c.1003G>T (p.Ala335Ser) rs892172437 0.00001
NM_001379200.1(TBX1):c.1010C>T (p.Pro337Leu) rs1300317275 0.00001
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp) rs1191464098 0.00001
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr) rs1407996016 0.00001
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu) rs1157536437 0.00001
NM_001379200.1(TBX1):c.1195G>A (p.Gly399Arg) rs1196576937 0.00001
NM_001379200.1(TBX1):c.1196G>C (p.Gly399Ala) rs1274082696 0.00001
NM_001379200.1(TBX1):c.1199G>C (p.Gly400Ala) rs1238160485 0.00001
NM_001379200.1(TBX1):c.119C>T (p.Ala40Val) rs745369694 0.00001
NM_001379200.1(TBX1):c.1286C>T (p.Ala429Val) rs754328637 0.00001
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys) rs1163307521 0.00001
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn) rs758517884 0.00001
NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys) rs1386894564 0.00001
NM_001379200.1(TBX1):c.137C>T (p.Pro46Leu) rs1169037254 0.00001
NM_001379200.1(TBX1):c.1469C>T (p.Ser490Leu) rs770129913 0.00001
NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val) rs373987708 0.00001
NM_001379200.1(TBX1):c.1500C>G (p.Asp500Glu) rs777213879 0.00001
NM_001379200.1(TBX1):c.158C>T (p.Pro53Leu) rs1403071771 0.00001
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu) rs1936641756 0.00001
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr) rs1936643083 0.00001
NM_001379200.1(TBX1):c.303C>G (p.Ser101Arg) rs774556411 0.00001
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp) rs761127806 0.00001
NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu) rs778041960 0.00001
NM_001379200.1(TBX1):c.523G>A (p.Asp175Asn) rs371125236 0.00001
NM_001379200.1(TBX1):c.632A>G (p.Lys211Arg) rs755518264 0.00001
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr) rs748232668 0.00001
NM_001379200.1(TBX1):c.658G>A (p.Val220Met) rs749275495 0.00001
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn) rs765827737 0.00001
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg) rs373539086 0.00001
NM_001379200.1(TBX1):c.956G>C (p.Gly319Ala) rs747565599 0.00001
NM_001379200.1(TBX1):c.986G>C (p.Arg329Pro) rs1271930172 0.00001
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr) rs778783316 0.00001
NM_002397.5(MEF2C):c.1340T>C (p.Ile447Thr) rs753156153 0.00001
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile) rs750647048 0.00001
NM_002397.5(MEF2C):c.440T>G (p.Ile147Ser) rs1366038563 0.00001
NM_002397.5(MEF2C):c.544A>G (p.Met182Val) rs1250885583 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu) rs777826971 0.00001
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) rs1377524842 0.00001
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) rs1009967374 0.00001
NM_005068.3(SIM1):c.*1484T>C rs886060891 0.00001
NM_005068.3(SIM1):c.743+10C>G rs886060897 0.00001
NM_005267.5(GJA8):c.1033G>A (p.Glu345Lys) rs1553242966 0.00001
NM_005573.4(LMNB1):c.*640G>A rs1294635743 0.00001
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp) rs1205547665 0.00001
NM_005573.4(LMNB1):c.775C>T (p.Leu259=) rs575662572 0.00001
NM_006940.6(SOX5):c.1129G>A (p.Asp377Asn) rs371364235 0.00001
NM_006940.6(SOX5):c.1226C>A (p.Pro409His) rs1565958110 0.00001
NM_006940.6(SOX5):c.179A>G (p.Asn60Ser) rs764767423 0.00001
NM_014679.5(CEP57):c.1009T>C (p.Ser337Pro) rs1453457813 0.00001
NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg) rs185181743 0.00001
NM_014679.5(CEP57):c.1046C>T (p.Thr349Ile) rs768090594 0.00001
NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr) rs1227528568 0.00001
NM_014679.5(CEP57):c.1063G>T (p.Gly355Cys) rs202115720 0.00001
NM_014679.5(CEP57):c.1084G>A (p.Glu362Lys) rs749400630 0.00001
NM_014679.5(CEP57):c.1122G>T (p.Met374Ile) rs764662402 0.00001
NM_014679.5(CEP57):c.1160A>C (p.Glu387Ala) rs749225516 0.00001
NM_014679.5(CEP57):c.1172T>C (p.Val391Ala) rs374317740 0.00001
NM_014679.5(CEP57):c.1174G>A (p.Glu392Lys) rs747350287 0.00001
NM_014679.5(CEP57):c.1196G>A (p.Cys399Tyr) rs1862891504 0.00001
NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr) rs752448256 0.00001
NM_014679.5(CEP57):c.122C>T (p.Ser41Leu) rs993520814 0.00001
NM_014679.5(CEP57):c.1247C>G (p.Thr416Ser) rs758520624 0.00001
NM_014679.5(CEP57):c.1272+4A>C rs1465357317 0.00001
NM_014679.5(CEP57):c.1273C>T (p.Leu425=) rs758465541 0.00001
NM_014679.5(CEP57):c.145G>A (p.Asp49Asn) rs368437597 0.00001
NM_014679.5(CEP57):c.1496A>G (p.Asp499Gly) rs778341440 0.00001
NM_014679.5(CEP57):c.152G>A (p.Arg51Gln) rs549840259 0.00001
NM_014679.5(CEP57):c.154C>T (p.Arg52Cys) rs749519225 0.00001
NM_014679.5(CEP57):c.155G>A (p.Arg52His) rs771323616 0.00001
NM_014679.5(CEP57):c.170C>G (p.Pro57Arg) rs1861478889 0.00001
NM_014679.5(CEP57):c.233A>G (p.Asp78Gly) rs750728317 0.00001
NM_014679.5(CEP57):c.242G>A (p.Arg81Gln) rs1221295374 0.00001
NM_014679.5(CEP57):c.244C>T (p.Arg82Cys) rs372530656 0.00001
NM_014679.5(CEP57):c.258G>C (p.Glu86Asp) rs912374722 0.00001
NM_014679.5(CEP57):c.26C>T (p.Ala9Val) rs1171650821 0.00001
NM_014679.5(CEP57):c.31G>C (p.Gly11Arg) rs755854165 0.00001
NM_014679.5(CEP57):c.337C>G (p.Gln113Glu) rs1361128223 0.00001
NM_014679.5(CEP57):c.358A>G (p.Asn120Asp) rs201590491 0.00001
NM_014679.5(CEP57):c.366A>C (p.Glu122Asp) rs375567801 0.00001
NM_014679.5(CEP57):c.373C>T (p.His125Tyr) rs751973626 0.00001
NM_014679.5(CEP57):c.382+4T>C rs572758334 0.00001
NM_014679.5(CEP57):c.3G>A (p.Met1Ile) rs1017500720 0.00001
NM_014679.5(CEP57):c.45+5G>A rs1347618392 0.00001
NM_014679.5(CEP57):c.472G>A (p.Glu158Lys) rs761049103 0.00001
NM_014679.5(CEP57):c.478G>A (p.Glu160Lys) rs754392500 0.00001
NM_014679.5(CEP57):c.550A>G (p.Ser184Gly) rs1336581104 0.00001
NM_014679.5(CEP57):c.566T>C (p.Leu189Ser) rs928707774 0.00001
NM_014679.5(CEP57):c.824A>G (p.Tyr275Cys) rs759400733 0.00001
NM_014679.5(CEP57):c.896C>G (p.Pro299Arg) rs776778777 0.00001
NM_014679.5(CEP57):c.89G>A (p.Arg30Gln) rs577173144 0.00001
NM_014679.5(CEP57):c.917A>G (p.Asn306Ser) rs557536640 0.00001
NM_014679.5(CEP57):c.918T>A (p.Asn306Lys) rs984460249 0.00001
NM_014679.5(CEP57):c.968A>G (p.Asn323Ser) rs1266159669 0.00001
NM_014679.5(CEP57):c.98C>T (p.Ser33Leu) rs562909477 0.00001
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln) rs150934316 0.00001
NM_016628.5(WAC):c.31C>T (p.Leu11Phe) rs139935489 0.00001
NM_019040.5(ELP4):c.*3859G>A rs886048190 0.00001
NM_019040.5(ELP4):c.*4023C>A rs886048194 0.00001
NM_019040.5(ELP4):c.*4889G>A rs886048196 0.00001
NM_019040.5(ELP4):c.*5357A>G rs886048197 0.00001
NM_019040.5(ELP4):c.*5471T>C rs886048198 0.00001
NM_019066.5(MAGEL2):c.1145_1147dup (p.Trp382_Gln383insArg) rs1397065690 0.00001
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) rs964772041 0.00001
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) rs1216919340 0.00001
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp) rs772413215 0.00001
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile) rs984557516 0.00001
NM_022039.4(FBXW4):c.1181A>G (p.His394Arg) rs151048089 0.00001
NM_022039.4(FBXW4):c.710G>A (p.Arg237Gln) rs886046642 0.00001
NM_022455.5(NSD1):c.1063+10dup rs762416925 0.00001
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln) rs769733603 0.00001
NM_022455.5(NSD1):c.108A>G (p.Gln36=) rs549091873 0.00001
NM_022455.5(NSD1):c.1237-10T>C rs587784070 0.00001
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys) rs587784074 0.00001
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp) rs1215568879 0.00001
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) rs1488271424 0.00001
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr) rs756449994 0.00001
NM_022455.5(NSD1):c.1882G>A (p.Asp628Asn) rs1763231304 0.00001
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) rs754514832 0.00001
NM_022455.5(NSD1):c.19C>A (p.Leu7Ile) rs368345846 0.00001
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys) rs766184697 0.00001
NM_022455.5(NSD1):c.2153G>A (p.Ser718Asn) rs781142476 0.00001
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln) rs751258086 0.00001
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg) rs1442977122 0.00001
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp) rs780991637 0.00001
NM_022455.5(NSD1):c.2925C>T (p.Ser975=) rs587784090 0.00001
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu) rs1021852466 0.00001
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His) rs111638717 0.00001
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=) rs398124377 0.00001
NM_022455.5(NSD1):c.3770C>T (p.Thr1257Ile) rs1249385869 0.00001
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln) rs1388537733 0.00001
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp) rs1765619618 0.00001
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=) rs1251583221 0.00001
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_022455.5(NSD1):c.4436C>T (p.Ala1479Val) rs1766327804 0.00001
NM_022455.5(NSD1):c.4487C>T (p.Pro1496Leu) rs1766333203 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser) rs746925986 0.00001
NM_022455.5(NSD1):c.5420C>T (p.Thr1807Ile) rs759106773 0.00001
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His) rs746726463 0.00001
NM_022455.5(NSD1):c.5892+6A>G rs1231700818 0.00001
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His) rs1401142770 0.00001
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile) rs1240149522 0.00001
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala) rs1418961998 0.00001
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598 0.00001
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro) rs770174512 0.00001
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu) rs769699822 0.00001
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) rs921266576 0.00001
NM_022455.5(NSD1):c.7379A>G (p.Asp2460Gly) rs1406542990 0.00001
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His) rs587784216 0.00001
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro) rs750441093 0.00001
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro) rs1388409083 0.00001
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val) rs755285941 0.00001
NM_022455.5(NSD1):c.7897C>T (p.Arg2633Trp) rs758475990 0.00001
NM_024426.6(WT1):c.1013G>A (p.Ser338Asn) rs748112905 0.00001
NM_024426.6(WT1):c.1016+4A>C rs776489080 0.00001
NM_024426.6(WT1):c.1033G>A (p.Glu345Lys) rs547783372 0.00001
NM_024426.6(WT1):c.1069G>C (p.Ala357Pro) rs1362066206 0.00001
NM_024426.6(WT1):c.1094G>A (p.Gly365Asp) rs769934402 0.00001
NM_024426.6(WT1):c.109G>A (p.Gly37Arg) rs1397886023 0.00001
NM_024426.6(WT1):c.1100T>G (p.Phe367Cys) rs150194429 0.00001
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser) rs544966826 0.00001
NM_024426.6(WT1):c.1113+5G>A rs930795675 0.00001
NM_024426.6(WT1):c.1114-7C>A rs1396821797 0.00001
NM_024426.6(WT1):c.1117G>A (p.Val373Met) rs747377024 0.00001
NM_024426.6(WT1):c.112G>C (p.Val38Leu) rs1229949294 0.00001
NM_024426.6(WT1):c.1135G>A (p.Val379Ile) rs755936509 0.00001
NM_024426.6(WT1):c.1153C>T (p.Arg385Trp) rs765218093 0.00001
NM_024426.6(WT1):c.116G>A (p.Arg39Gln) rs1590411426 0.00001
NM_024426.6(WT1):c.1198T>C (p.Tyr400His) rs746353651 0.00001
NM_024426.6(WT1):c.1202C>T (p.Pro401Leu) rs1060501258 0.00001
NM_024426.6(WT1):c.1210A>C (p.Asn404His) rs774976881 0.00001
NM_024426.6(WT1):c.1211A>C (p.Asn404Thr) rs748864758 0.00001
NM_024426.6(WT1):c.122C>T (p.Pro41Leu) rs773550149 0.00001
NM_024426.6(WT1):c.1253G>T (p.Arg418Met) rs373176048 0.00001
NM_024426.6(WT1):c.133T>C (p.Trp45Arg) rs1186470250 0.00001
NM_024426.6(WT1):c.1385A>T (p.Gln462Leu) rs533043871 0.00001
NM_024426.6(WT1):c.1469G>A (p.Arg490Gln) rs139893274 0.00001
NM_024426.6(WT1):c.1477A>G (p.Ser493Gly) rs776256676 0.00001
NM_024426.6(WT1):c.1487A>G (p.Lys496Arg) rs760370132 0.00001
NM_024426.6(WT1):c.149C>A (p.Ala50Asp) rs967658170 0.00001
NM_024426.6(WT1):c.1513G>C (p.Val505Leu) rs1399910889 0.00001
NM_024426.6(WT1):c.154G>A (p.Glu52Lys) rs1212035248 0.00001
NM_024426.6(WT1):c.1555C>T (p.Gln519Ter) rs866837692 0.00001
NM_024426.6(WT1):c.1559T>C (p.Leu520Pro) rs774228907 0.00001
NM_024426.6(WT1):c.1562C>T (p.Ala521Val) rs749266841 0.00001
NM_024426.6(WT1):c.172C>G (p.Leu58Val) rs1412425868 0.00001
NM_024426.6(WT1):c.200C>G (p.Ser67Cys) rs1327516147 0.00001
NM_024426.6(WT1):c.202G>A (p.Gly68Arg) rs1353446740 0.00001
NM_024426.6(WT1):c.211C>A (p.Pro71Thr) rs1392405207 0.00001
NM_024426.6(WT1):c.223G>A (p.Gly75Ser) rs528076586 0.00001
NM_024426.6(WT1):c.231C>A (p.Asp77Glu) rs1193574882 0.00001
NM_024426.6(WT1):c.262G>A (p.Val88Ile) rs1410971862 0.00001
NM_024426.6(WT1):c.26C>T (p.Pro9Leu) rs948132360 0.00001
NM_024426.6(WT1):c.284G>T (p.Gly95Val) rs1454795891 0.00001
NM_024426.6(WT1):c.286G>A (p.Gly96Ser) rs1060501254 0.00001
NM_024426.6(WT1):c.304A>G (p.Ser102Gly) rs1336319420 0.00001
NM_024426.6(WT1):c.311C>G (p.Ala104Gly) rs1044394214 0.00001
NM_024426.6(WT1):c.326C>G (p.Pro109Arg) rs1853459569 0.00001
NM_024426.6(WT1):c.32C>G (p.Ser11Cys) rs1412950681 0.00001
NM_024426.6(WT1):c.341C>A (p.Ala114Glu) rs1311557029 0.00001
NM_024426.6(WT1):c.34A>C (p.Thr12Pro) rs764111950 0.00001
NM_024426.6(WT1):c.350G>A (p.Gly117Asp) rs939385459 0.00001
NM_024426.6(WT1):c.352G>C (p.Ala118Pro) rs1253163678 0.00001
NM_024426.6(WT1):c.355T>C (p.Ser119Pro) rs1187111469 0.00001
NM_024426.6(WT1):c.380C>G (p.Pro127Arg) rs1387576357 0.00001
NM_024426.6(WT1):c.386C>A (p.Pro129Gln) rs745435848 0.00001
NM_024426.6(WT1):c.392C>G (p.Pro131Arg) rs1443423967 0.00001
NM_024426.6(WT1):c.404C>T (p.Pro135Leu) rs769642496 0.00001
NM_024426.6(WT1):c.412C>T (p.Pro138Ser) rs544477985 0.00001
NM_024426.6(WT1):c.439C>G (p.Gln147Glu) rs953087575 0.00001
NM_024426.6(WT1):c.440A>G (p.Gln147Arg) rs764552529 0.00001
NM_024426.6(WT1):c.459C>T (p.Gly153=) rs1309250331 0.00001
NM_024426.6(WT1):c.489C>A (p.Ser163Arg) rs908414065 0.00001
NM_024426.6(WT1):c.499G>A (p.Val167Ile) rs1474496518 0.00001
NM_024426.6(WT1):c.53C>T (p.Ala18Val) rs1853481284 0.00001
NM_024426.6(WT1):c.566C>T (p.Pro189Leu) rs745879965 0.00001
NM_024426.6(WT1):c.584C>G (p.Ser195Cys) rs778194188 0.00001
NM_024426.6(WT1):c.595A>G (p.Arg199Gly) rs1307678573 0.00001
NM_024426.6(WT1):c.620T>G (p.Leu207Arg) rs1258754686 0.00001
NM_024426.6(WT1):c.627C>G (p.Ser209Arg) rs761530541 0.00001
NM_024426.6(WT1):c.641A>C (p.Gln214Pro) rs771024882 0.00001
NM_024426.6(WT1):c.646G>A (p.Ala216Thr) rs778069787 0.00001
NM_024426.6(WT1):c.650T>G (p.Ile217Ser) rs1853431800 0.00001
NM_024426.6(WT1):c.658C>A (p.Gln220Lys) rs373935628 0.00001
NM_024426.6(WT1):c.662G>A (p.Gly221Asp) rs369444006 0.00001
NM_024426.6(WT1):c.685G>A (p.Gly229Arg) rs767419243 0.00001
NM_024426.6(WT1):c.691C>T (p.Pro231Ser) rs766425764 0.00001
NM_024426.6(WT1):c.710C>T (p.Pro237Leu) rs760776653 0.00001
NM_024426.6(WT1):c.71G>A (p.Arg24His) rs1330792627 0.00001
NM_024426.6(WT1):c.724G>A (p.Ala242Thr) rs1590395740 0.00001
NM_024426.6(WT1):c.761C>T (p.Pro254Leu) rs1213160959 0.00001
NM_024426.6(WT1):c.763A>G (p.Met255Val) rs142653301 0.00001
NM_024426.6(WT1):c.76G>A (p.Gly26Arg) rs1189241211 0.00001
NM_024426.6(WT1):c.771G>T (p.Gln257His) rs1853140764 0.00001
NM_024426.6(WT1):c.77G>A (p.Gly26Glu) rs1484558172 0.00001
NM_024426.6(WT1):c.803T>G (p.Val268Gly) rs765230888 0.00001
NM_024426.6(WT1):c.815T>C (p.Val272Ala) rs1298646630 0.00001
NM_024426.6(WT1):c.832C>G (p.Pro278Ala) rs773527284 0.00001
NM_024426.6(WT1):c.83G>A (p.Gly28Glu) rs751641518 0.00001
NM_024426.6(WT1):c.850G>A (p.Gly284Ser) rs1271732325 0.00001
NM_024426.6(WT1):c.86G>A (p.Cys29Tyr) rs992227366 0.00001
NM_024426.6(WT1):c.887+19C>G rs755113185 0.00001
NM_024426.6(WT1):c.973G>A (p.Ala325Thr) rs1712081462 0.00001
NM_024426.6(WT1):c.977G>C (p.Gly326Ala) rs766054482 0.00001
NM_024426.6(WT1):c.980G>A (p.Ser327Asn) rs1308955642 0.00001
NM_030665.4(RAI1):c.1471G>A (p.Glu491Lys) rs527757515 0.00001
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn) rs936181213 0.00001
NM_030665.4(RAI1):c.3401C>T (p.Pro1134Leu) rs2032247780 0.00001
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg) rs149839441 0.00001
NM_030665.4(RAI1):c.454C>A (p.Pro152Thr) rs755899326 0.00001
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser) rs794727522 0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr) rs143161740 0.00001
NM_032322.4(RNF135):c.575C>T (p.Thr192Ile) rs1907708509 0.00001
NM_078480.3(PUF60):c.1489A>G (p.Ile497Val) rs756399764 0.00001
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg) rs1411433335 0.00001
NM_080647.1(TBX1):c.34+6C>T rs1263773731 0.00001
NM_144997.7(FLCN):c.1087A>T (p.Met363Leu) rs1313891453 0.00001
NM_144997.7(FLCN):c.1315G>A (p.Val439Met) rs112980409 0.00001
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys) rs759637055 0.00001
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu) rs760329266 0.00001
NM_144997.7(FLCN):c.1709G>A (p.Arg570His) rs201056799 0.00001
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys) rs778275358 0.00001
NM_144997.7(FLCN):c.179C>T (p.Ala60Val) rs779900587 0.00001
NM_144997.7(FLCN):c.221C>T (p.Pro74Leu) rs773648142 0.00001
NM_144997.7(FLCN):c.230A>C (p.Lys77Thr) rs746556970 0.00001
NM_144997.7(FLCN):c.251G>T (p.Gly84Val) rs1386417463 0.00001
NM_144997.7(FLCN):c.451G>A (p.Val151Met) rs147164515 0.00001
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu) rs1040675580 0.00001
NM_144997.7(FLCN):c.49C>T (p.Arg17Cys) rs765251703 0.00001
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp) rs774358971 0.00001
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile) rs1407566775 0.00001
NM_144997.7(FLCN):c.581G>A (p.Arg194Gln) rs756807584 0.00001
NM_144997.7(FLCN):c.644G>A (p.Cys215Tyr) rs370074267 0.00001
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys) rs371401039 0.00001
NM_144997.7(FLCN):c.748C>A (p.Leu250Met) rs898441209 0.00001
NM_144997.7(FLCN):c.833C>T (p.Pro278Leu) rs748031634 0.00001
NM_144997.7(FLCN):c.986C>T (p.Ser329Phe) rs770027312 0.00001
46;XY;t(12;14)(q15;q13)mat
46;XY;t(20;22)(q13.3;q11.2)
GRCh37/hg19 15q11.2(chr15:22744149-23407579)x3
GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3
GRCh37/hg19 3q21.2-21.3(chr3:124981934-126093700)x3
GRCh37/hg19 3q29(chr3:194790394-197961930)x3
GRCh37/hg19 5p15.1(chr5:15086014-15868591)x3
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)
GRCh38/hg38 15q11.2(chr15:22781888-23030923)
GRCh38/hg38 15q11.2(chr15:22787668-23051531)
GRCh38/hg38 15q11.2(chr15:22787849-23051049)
GRCh38/hg38 22q11.21(chr22:19334035-19430073)
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
NC_000002.11:g.(?_149216308)_(149270530_?)dup
NC_000002.11:g.(?_200136914)_(200298257_?)dup
NC_000002.11:g.(?_200136934)_(200246563_?)dup
NC_000002.11:g.(?_200173463)_(200320780_?)dup
NC_000002.11:g.(?_200245067)_(200320760_?)dup
NC_000005.9:g.(?_175158654)_(179263593_?)dup
NC_000005.9:g.(?_176618865)_(177036696_?)dup
NC_000011.10:g.(?_32416480)_(32417664_?)del
NC_000011.9:g.(?_32410594)_(32421600_?)dup
NC_000011.9:g.(?_32410604)_(32410745_?)dup
NC_000011.9:g.(?_95523863)_(95569448_?)dup
NC_000011.9:g.(?_95550941)_(95551077_?)del
NC_000014.9:g.20013858_20436718dup
NC_000015.10:g.(?_40183704)_(40185652_?)del
NC_000015.10:g.(?_90747383)_(90769596_?)dup
NC_000015.10:g.(?_90766904)_(90767029_?)del
NC_000015.10:g.(?_90782812)_(90968837_?)dup
NC_000015.10:g.31722025_32224686dup
NC_000015.9:g.(?_32964879)_(91358519_?)dup
NC_000015.9:g.(?_40453416)_(40512966_?)dup
NC_000015.9:g.(?_40453422)_(40512960_?)dup
NC_000015.9:g.(?_40457244)_(40457407_?)dup
NC_000015.9:g.(?_91259558)_(91359692_?)dup
NC_000015.9:g.(?_91290613)_(91298178_?)dup
NC_000015.9:g.(?_91290617)_(91358515_?)dup
NC_000015.9:g.(?_91290623)_(91358509_?)dup
NC_000015.9:g.(?_91290623)_(91512067_?)dup
NC_000015.9:g.(?_91310130)_(91310263_?)del
NC_000015.9:g.(?_91310130)_(91312471_?)dup
NC_000015.9:g.(?_91310134)_(91310259_?)del
NC_000015.9:g.(?_91341410)_(91358509_?)dup
NC_000015.9:g.(?_91358322)_(91358509_?)dup
NC_000015.9:g.(?_91358322)_(91358519_?)del
NC_000022.10:g.(?_18900668)_(19770565_?)dup
NC_000022.10:g.(?_18900688)_(21351637_?)dup
NC_000022.10:g.(?_18910310)_(19770565_?)dup
NC_000022.10:g.(?_19743226)_(19755855_?)dup
NC_000023.11:g.(?_144988272)_(145271978_?)dup
NM_000057.4(BLM):c.-33G>C rs938444227
NM_000057.4(BLM):c.-4-2A>T rs866546098
NM_000057.4(BLM):c.1001T>A (p.Val334Asp) rs1895775882
NM_000057.4(BLM):c.1003C>G (p.Leu335Val) rs1265514490
NM_000057.4(BLM):c.1007G>A (p.Ser336Asn) rs2151152181
NM_000057.4(BLM):c.1012T>C (p.Ser338Pro)
NM_000057.4(BLM):c.1012T>G (p.Ser338Ala) rs2151152195
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu) rs1596223833
NM_000057.4(BLM):c.1018G>A (p.Asp340Asn) rs1596223836
NM_000057.4(BLM):c.1018G>C (p.Asp340His) rs1596223836
NM_000057.4(BLM):c.1020T>A (p.Asp340Glu) rs2151152205
NM_000057.4(BLM):c.1021C>A (p.Leu341Ile)
NM_000057.4(BLM):c.1021C>T (p.Leu341Phe) rs2151152210
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser) rs1596223853
NM_000057.4(BLM):c.1027T>A (p.Ser343Thr) rs776620199
NM_000057.4(BLM):c.1034C>T (p.Pro345Leu)
NM_000057.4(BLM):c.1037A>C (p.Glu346Ala) rs1946402648
NM_000057.4(BLM):c.1043T>C (p.Met348Thr)
NM_000057.4(BLM):c.1044G>T (p.Met348Ile) rs184657475
NM_000057.4(BLM):c.1045A>G (p.Ser349Gly) rs1895778101
NM_000057.4(BLM):c.1045_1050del (p.Ser349_Met350del)
NM_000057.4(BLM):c.1046G>A (p.Ser349Asn) rs761783430
NM_000057.4(BLM):c.1049T>C (p.Met350Thr)
NM_000057.4(BLM):c.1052A>G (p.Gln351Arg)
NM_000057.4(BLM):c.1054G>A (p.Glu352Lys) rs369583279
NM_000057.4(BLM):c.1057C>G (p.Leu353Val) rs1895778737
NM_000057.4(BLM):c.1063C>G (p.Pro355Ala) rs1895778825
NM_000057.4(BLM):c.1064C>A (p.Pro355Gln)
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg) rs1022898915
NM_000057.4(BLM):c.1064C>T (p.Pro355Leu) rs1022898915
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.4(BLM):c.1072A>C (p.Ser358Arg) rs1336484885
NM_000057.4(BLM):c.1073G>A (p.Ser358Asn)
NM_000057.4(BLM):c.1073G>T (p.Ser358Ile) rs750203166
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro) rs1332024999
NM_000057.4(BLM):c.1079A>G (p.Asp360Gly)
NM_000057.4(BLM):c.107C>G (p.Thr36Ser) rs1895599706
NM_000057.4(BLM):c.1087+5A>G
NM_000057.4(BLM):c.1088-35C>T rs1359919212
NM_000057.4(BLM):c.1088-5T>A
NM_000057.4(BLM):c.1088-5del rs1596228766
NM_000057.4(BLM):c.1088-8T>G rs1596228765
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1095G>A (p.Gln365=)
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu) rs552913880
NM_000057.4(BLM):c.1098A>G (p.Ile366Met)
NM_000057.4(BLM):c.10G>A (p.Val4Ile) rs1466614215
NM_000057.4(BLM):c.10G>C (p.Val4Leu) rs1466614215
NM_000057.4(BLM):c.10G>T (p.Val4Phe) rs1466614215
NM_000057.4(BLM):c.1100G>C (p.Ser367Thr)
NM_000057.4(BLM):c.1105C>A (p.Gln369Lys) rs1049658021
NM_000057.4(BLM):c.1105C>G (p.Gln369Glu)
NM_000057.4(BLM):c.1107G>T (p.Gln369His) rs1895931307
NM_000057.4(BLM):c.1109A>C (p.Gln370Pro) rs773198283
NM_000057.4(BLM):c.1114C>A (p.Leu372Ile) rs1480729955
NM_000057.4(BLM):c.1114C>T (p.Leu372Phe) rs1480729955
NM_000057.4(BLM):c.1115T>C (p.Leu372Pro)
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn) rs1060500630
NM_000057.4(BLM):c.1118T>C (p.Ile373Thr)
NM_000057.4(BLM):c.1120C>G (p.His374Asp) rs2151157246
NM_000057.4(BLM):c.1123G>C (p.Val375Leu) rs1596228852
NM_000057.4(BLM):c.1126A>C (p.Met376Leu) rs1895932695
NM_000057.4(BLM):c.1127T>C (p.Met376Thr) rs2151157273
NM_000057.4(BLM):c.1128G>A (p.Met376Ile)
NM_000057.4(BLM):c.1131G>C (p.Glu377Asp) rs764842587
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) rs1555419713
NM_000057.4(BLM):c.1135A>G (p.Ile379Val) rs1895933431
NM_000057.4(BLM):c.1136T>G (p.Ile379Ser) rs1408233877
NM_000057.4(BLM):c.1137C>G (p.Ile379Met) rs1178783782
NM_000057.4(BLM):c.1137C>T (p.Ile379=)
NM_000057.4(BLM):c.1139G>A (p.Cys380Tyr)
NM_000057.4(BLM):c.113A>C (p.Lys38Thr) rs2151146691
NM_000057.4(BLM):c.113A>G (p.Lys38Arg) rs2151146691
NM_000057.4(BLM):c.1147A>G (p.Ile383Val) rs1895933936
NM_000057.4(BLM):c.1150G>A (p.Asp384Asn)
NM_000057.4(BLM):c.1150G>C (p.Asp384His) rs1895934142
NM_000057.4(BLM):c.1153A>G (p.Thr385Ala) rs1895934308
NM_000057.4(BLM):c.1157T>G (p.Ile386Ser) rs2151157373
NM_000057.4(BLM):c.1159C>A (p.Pro387Thr)
NM_000057.4(BLM):c.1163A>G (p.Asp388Gly)
NM_000057.4(BLM):c.1165G>C (p.Asp389His) rs746170218
NM_000057.4(BLM):c.1166A>G (p.Asp389Gly) rs1555419732
NM_000057.4(BLM):c.1169A>C (p.Lys390Thr) rs1596228946
NM_000057.4(BLM):c.1177C>T (p.Leu393Phe) rs1895935448
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu) rs1596228978
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp) rs1596228991
NM_000057.4(BLM):c.1198C>G (p.Leu400Val)
NM_000057.4(BLM):c.11T>A (p.Val4Asp) rs144706057
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe) rs151150267
NM_000057.4(BLM):c.1204C>G (p.Gln402Glu)
NM_000057.4(BLM):c.1205A>G (p.Gln402Arg)
NM_000057.4(BLM):c.1205A>T (p.Gln402Leu)
NM_000057.4(BLM):c.1208A>C (p.Gln403Pro)
NM_000057.4(BLM):c.1209G>C (p.Gln403His) rs1555419741
NM_000057.4(BLM):c.1211G>T (p.Arg404Leu) rs776516663
NM_000057.4(BLM):c.1214A>G (p.Asn405Ser) rs752223894
NM_000057.4(BLM):c.1217T>C (p.Ile406Thr) rs2151157512
NM_000057.4(BLM):c.1220+3A>T
NM_000057.4(BLM):c.1220G>A (p.Arg407Lys) rs1350192744
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) rs1350192744
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1221-3C>T
NM_000057.4(BLM):c.1221-7T>G
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser) rs900060314
NM_000057.4(BLM):c.1221A>G (p.Arg407=) rs900060314
NM_000057.4(BLM):c.1225A>G (p.Lys409Glu)
NM_000057.4(BLM):c.1228C>G (p.Leu410Val) rs200688933
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe) rs200688933
NM_000057.4(BLM):c.1231C>G (p.Leu411Val) rs1567040779
NM_000057.4(BLM):c.1237G>C (p.Glu413Gln) rs887921909
NM_000057.4(BLM):c.1243G>C (p.Asp415His)
NM_000057.4(BLM):c.1250A>G (p.Asn417Ser) rs2151157798
NM_000057.4(BLM):c.1253A>T (p.Lys418Ile)
NM_000057.4(BLM):c.1258G>C (p.Asp420His) rs1895947012
NM_000057.4(BLM):c.1259A>G (p.Asp420Gly) rs773952896
NM_000057.4(BLM):c.125C>T (p.Ser42Phe) rs763065919
NM_000057.4(BLM):c.1261G>T (p.Ala421Ser) rs587779879
NM_000057.4(BLM):c.1262C>G (p.Ala421Gly)
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del) rs777886082
NM_000057.4(BLM):c.1274G>A (p.Gly425Asp) rs1244225539
NM_000057.4(BLM):c.1280T>G (p.Leu427Trp)
NM_000057.4(BLM):c.1287A>C (p.Arg429Ser)
NM_000057.4(BLM):c.1287A>T (p.Arg429Ser) rs1895949043
NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe)
NM_000057.4(BLM):c.1299T>A (p.Asp433Glu)
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr) rs778786003
NM_000057.4(BLM):c.1304T>C (p.Leu435Pro)
NM_000057.4(BLM):c.1308T>G (p.Asp436Glu) rs140178590
NM_000057.4(BLM):c.130G>A (p.Asp44Asn)
NM_000057.4(BLM):c.130G>T (p.Asp44Tyr) rs1249086421
NM_000057.4(BLM):c.1312C>T (p.Pro438Ser)
NM_000057.4(BLM):c.1313C>T (p.Pro438Leu)
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly) rs1567040910
NM_000057.4(BLM):c.131A>G (p.Asp44Gly) rs1895600607
NM_000057.4(BLM):c.1321G>A (p.Gly441Ser)
NM_000057.4(BLM):c.1322G>T (p.Gly441Val) rs2151157998
NM_000057.4(BLM):c.1330T>G (p.Cys444Gly) rs745820610
NM_000057.4(BLM):c.1331G>A (p.Cys444Tyr)
NM_000057.4(BLM):c.1331G>T (p.Cys444Phe) rs1555419834
NM_000057.4(BLM):c.1336A>G (p.Thr446Ala)
NM_000057.4(BLM):c.1336A>T (p.Thr446Ser) rs1567040932
NM_000057.4(BLM):c.1337C>T (p.Thr446Ile)
NM_000057.4(BLM):c.1339G>T (p.Gly447Trp)
NM_000057.4(BLM):c.133A>G (p.Asn45Asp)
NM_000057.4(BLM):c.1341G>T (p.Gly447=)
NM_000057.4(BLM):c.1345T>A (p.Ser449Thr) rs1895952979
NM_000057.4(BLM):c.1346C>A (p.Ser449Tyr) rs967698170
NM_000057.4(BLM):c.1346C>G (p.Ser449Cys) rs967698170
NM_000057.4(BLM):c.1348A>C (p.Met450Leu)
NM_000057.4(BLM):c.1349T>A (p.Met450Lys) rs2151158079
NM_000057.4(BLM):c.1349T>C (p.Met450Thr) rs2151158079
NM_000057.4(BLM):c.134A>G (p.Asn45Ser) rs1555418242
NM_000057.4(BLM):c.1358T>C (p.Leu453Ser)
NM_000057.4(BLM):c.1360A>C (p.Asn454His)
NM_000057.4(BLM):c.1361A>G (p.Asn454Ser) rs1895953927
NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)
NM_000057.4(BLM):c.1367C>T (p.Ser456Leu)
NM_000057.4(BLM):c.1369C>T (p.His457Tyr) rs1895954255
NM_000057.4(BLM):c.1370A>C (p.His457Pro)
NM_000057.4(BLM):c.1370A>G (p.His457Arg) rs2151158103
NM_000057.4(BLM):c.1372C>T (p.Leu458Phe)
NM_000057.4(BLM):c.1376C>A (p.Pro459His) rs1302320494
NM_000057.4(BLM):c.1388T>G (p.Val463Gly) rs1555419857
NM_000057.4(BLM):c.138T>G (p.Asn46Lys) rs1895600929
NM_000057.4(BLM):c.1391C>T (p.Ser464Phe) rs1303724070
NM_000057.4(BLM):c.1394C>A (p.Pro465His) rs561545349
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu) rs1567041006
NM_000057.4(BLM):c.13C>T (p.Pro5Ser) rs760982604
NM_000057.4(BLM):c.1404T>G (p.Cys468Trp) rs1236929438
NM_000057.4(BLM):c.1411A>G (p.Thr471Ala) rs2151158175
NM_000057.4(BLM):c.1421T>C (p.Leu474Pro)
NM_000057.4(BLM):c.1427A>G (p.Lys476Arg) rs2151158198
NM_000057.4(BLM):c.142T>A (p.Ser48Thr) rs1895601138
NM_000057.4(BLM):c.1430C>T (p.Thr477Ile) rs1567041041
NM_000057.4(BLM):c.1432G>C (p.Gly478Arg) rs1490929990
NM_000057.4(BLM):c.1433G>T (p.Gly478Val)
NM_000057.4(BLM):c.1436T>A (p.Phe479Tyr) rs1418071613
NM_000057.4(BLM):c.1437C>G (p.Phe479Leu) rs1567041060
NM_000057.4(BLM):c.1438T>C (p.Ser480Pro) rs1555419877
NM_000057.4(BLM):c.1439C>T (p.Ser480Phe) rs2151158229
NM_000057.4(BLM):c.1441G>A (p.Ala481Thr)
NM_000057.4(BLM):c.1444A>C (p.Thr482Pro)
NM_000057.4(BLM):c.1445C>A (p.Thr482Asn)
NM_000057.4(BLM):c.1448G>A (p.Arg483Lys)
NM_000057.4(BLM):c.1449G>C (p.Arg483Ser)
NM_000057.4(BLM):c.1455T>G (p.Asn485Lys) rs2151158261
NM_000057.4(BLM):c.145G>A (p.Val49Ile) rs558379347
NM_000057.4(BLM):c.1460T>C (p.Phe487Ser) rs992038495
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys) rs1477193473
NM_000057.4(BLM):c.1468C>T (p.Pro490Ser) rs1567041087
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.4(BLM):c.146T>C (p.Val49Ala) rs1895601341
NM_000057.4(BLM):c.1476C>G (p.Phe492Leu)
NM_000057.4(BLM):c.1476_1487del (p.Phe492_His495del) rs1895959648
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.1484A>G (p.His495Arg) rs2151158309
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.4(BLM):c.1491G>T (p.Gln497His)
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) rs1567034056
NM_000057.4(BLM):c.1501G>A (p.Val501Ile) rs1596230032
NM_000057.4(BLM):c.1505G>A (p.Ser502Asn)
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr) rs908599703
NM_000057.4(BLM):c.1508G>A (p.Ser503Asn) rs1352036324
NM_000057.4(BLM):c.1510A>C (p.Asn504His)
NM_000057.4(BLM):c.1515G>T (p.Trp505Cys) rs1286401716
NM_000057.4(BLM):c.1525C>A (p.Pro509Thr)
NM_000057.4(BLM):c.1526C>T (p.Pro509Leu) rs1457782246
NM_000057.4(BLM):c.1530A>T (p.Arg510Ser)
NM_000057.4(BLM):c.1532T>A (p.Leu511Gln) rs1446287900
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg) rs1446287900
NM_000057.4(BLM):c.1541A>T (p.Lys514Ile) rs550463714
NM_000057.4(BLM):c.1542A>C (p.Lys514Asn)
NM_000057.4(BLM):c.1546G>A (p.Glu516Lys)
NM_000057.4(BLM):c.154G>A (p.Val52Met) rs2151146745
NM_000057.4(BLM):c.1550G>C (p.Ser517Thr) rs2151158461
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro) rs1596230139
NM_000057.4(BLM):c.1553C>T (p.Ser518Phe) rs1596230143
NM_000057.4(BLM):c.1555T>G (p.Tyr519Asp) rs1895964366
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser) rs1410283592
NM_000057.4(BLM):c.1561C>T (p.Pro521Ser) rs1451973495
NM_000057.4(BLM):c.1564G>A (p.Gly522Arg) rs1895965135
NM_000057.4(BLM):c.1573C>G (p.Leu525Val) rs2151158518
NM_000057.4(BLM):c.1579A>C (p.Ser527Arg)
NM_000057.4(BLM):c.157T>A (p.Ser53Thr) rs1555418248
NM_000057.4(BLM):c.1582_1583insTTG (p.Thr528delinsIleAla)
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile) rs1596230185
NM_000057.4(BLM):c.1585G>A (p.Ala529Thr)
NM_000057.4(BLM):c.1589T>C (p.Val530Ala) rs2151158554
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr) rs1895966276
NM_000057.4(BLM):c.1593A>T (p.Lys531Asn) rs1239709333
NM_000057.4(BLM):c.1594G>A (p.Asp532Asn)
NM_000057.4(BLM):c.1594G>C (p.Asp532His) rs753723424
NM_000057.4(BLM):c.1595A>G (p.Asp532Gly) rs1895966610
NM_000057.4(BLM):c.1596_1598del (p.Asp532_Gln533delinsGlu) rs1895966710
NM_000057.4(BLM):c.1610C>A (p.Thr537Asn) rs1555419928
NM_000057.4(BLM):c.1612G>A (p.Ala538Thr) rs1318049766
NM_000057.4(BLM):c.1618A>G (p.Ile540Val) rs1060500641
NM_000057.4(BLM):c.1619T>A (p.Ile540Lys) rs1596230232
NM_000057.4(BLM):c.1620A>G (p.Ile540Met) rs1596230234
NM_000057.4(BLM):c.1622A>G (p.Asn541Ser) rs1240946873
NM_000057.4(BLM):c.1624G>A (p.Asp542Asn)
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.4(BLM):c.1626C>A (p.Asp542Glu) rs1895968518
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly) rs1567041307
NM_000057.4(BLM):c.1633A>G (p.Arg545Gly) rs1596230280
NM_000057.4(BLM):c.1634G>A (p.Arg545Lys)
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del) rs1555419934
NM_000057.4(BLM):c.164C>G (p.Ala55Gly) rs1895601835
NM_000057.4(BLM):c.164C>T (p.Ala55Val) rs1895601835
NM_000057.4(BLM):c.1657A>G (p.Ile553Val) rs778873363
NM_000057.4(BLM):c.1660G>A (p.Asp554Asn) rs2151158694
NM_000057.4(BLM):c.1672A>G (p.Ile558Val)
NM_000057.4(BLM):c.1673T>C (p.Ile558Thr) rs1469407831
NM_000057.4(BLM):c.1675_1676delinsTT (p.Asp559Phe) rs2151158719
NM_000057.4(BLM):c.1676A>G (p.Asp559Gly) rs1596230337
NM_000057.4(BLM):c.1676A>T (p.Asp559Val) rs1596230337
NM_000057.4(BLM):c.1678G>A (p.Asp560Asn) rs746386524
NM_000057.4(BLM):c.1678G>C (p.Asp560His) rs746386524
NM_000057.4(BLM):c.1679A>C (p.Asp560Ala)
NM_000057.4(BLM):c.1680_1691del (p.Phe561_Asp564del)
NM_000057.4(BLM):c.1681_1682delinsGA (p.Phe561Asp) rs1895970884
NM_000057.4(BLM):c.1683TGA[4] (p.Asp566del) rs768095141
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup) rs768095141
NM_000057.4(BLM):c.1685A>T (p.Asp562Val) rs2151158749
NM_000057.4(BLM):c.1686T>A (p.Asp562Glu) rs1895971165
NM_000057.4(BLM):c.1688A>T (p.Asp563Val) rs1288457938
NM_000057.4(BLM):c.1690G>A (p.Asp564Asn)
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly) rs1555419944
NM_000057.4(BLM):c.1691A>T (p.Asp564Val) rs1555419944
NM_000057.4(BLM):c.1705G>A (p.Asp569Asn)
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly) rs1895971955
NM_000057.4(BLM):c.1708A>C (p.Ile570Leu) rs775758928
NM_000057.4(BLM):c.1708A>G (p.Ile570Val) rs775758928
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr) rs1567041376
NM_000057.4(BLM):c.1712T>C (p.Met571Thr) rs587778109
NM_000057.4(BLM):c.1715A>C (p.His572Pro) rs763355238
NM_000057.4(BLM):c.1715A>G (p.His572Arg) rs763355238
NM_000057.4(BLM):c.1717A>C (p.Asn573His)
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys) rs1895973169
NM_000057.4(BLM):c.1726G>A (p.Ala576Thr)
NM_000057.4(BLM):c.1729A>C (p.Ser577Arg) rs761955701
NM_000057.4(BLM):c.172C>A (p.Pro58Thr) rs1596217837
NM_000057.4(BLM):c.172C>T (p.Pro58Ser) rs1596217837
NM_000057.4(BLM):c.1730G>A (p.Ser577Asn) rs1567041417
NM_000057.4(BLM):c.1733A>C (p.Lys578Thr) rs2151158873
NM_000057.4(BLM):c.1733A>G (p.Lys578Arg)
NM_000057.4(BLM):c.1734A>C (p.Lys578Asn) rs1895974192
NM_000057.4(BLM):c.1734A>T (p.Lys578Asn)
NM_000057.4(BLM):c.1739C>T (p.Ser580Phe)
NM_000057.4(BLM):c.1744G>C (p.Ala582Pro)
NM_000057.4(BLM):c.1747G>T (p.Ala583Ser) rs1043484811
NM_000057.4(BLM):c.1748C>T (p.Ala583Val)
NM_000057.4(BLM):c.1753C>A (p.Gln585Lys)
NM_000057.4(BLM):c.1756C>T (p.Pro586Ser) rs1895975290
NM_000057.4(BLM):c.1761C>G (p.Ile587Met) rs2151158924
NM_000057.4(BLM):c.1770_1772dup (p.Arg591_Pro592insArg)
NM_000057.4(BLM):c.1771C>G (p.Arg591Gly)
NM_000057.4(BLM):c.1781A>T (p.Lys594Ile) rs2151158958
NM_000057.4(BLM):c.1786G>A (p.Val596Ile) rs1596230556
NM_000057.4(BLM):c.1796G>C (p.Arg599Thr)
NM_000057.4(BLM):c.1798C>T (p.Leu600Phe) rs1466022684
NM_000057.4(BLM):c.17A>C (p.Gln6Pro) rs1248128883
NM_000057.4(BLM):c.1802C>A (p.Ser601Tyr) rs751951251
NM_000057.4(BLM):c.1802C>G (p.Ser601Cys) rs751951251
NM_000057.4(BLM):c.1802C>T (p.Ser601Phe) rs751951251
NM_000057.4(BLM):c.1804T>G (p.Ser602Ala) rs1895977282
NM_000057.4(BLM):c.1805C>T (p.Ser602Leu) rs2151159026
NM_000057.4(BLM):c.1808C>A (p.Ala603Asp) rs1567041486
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly) rs1567041486
NM_000057.4(BLM):c.1810A>G (p.Lys604Glu)
NM_000057.4(BLM):c.1817A>T (p.Asp606Val)
NM_000057.4(BLM):c.1818C>G (p.Asp606Glu)
NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)
NM_000057.4(BLM):c.1825C>T (p.Pro609Ser)
NM_000057.4(BLM):c.1826C>T (p.Pro609Leu) rs1895978264
NM_000057.4(BLM):c.182G>T (p.Arg61Ile) rs1060500644
NM_000057.4(BLM):c.1832C>T (p.Ser611Leu) rs1895978539
NM_000057.4(BLM):c.1837A>C (p.Thr613Pro)
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr) rs1895978868
NM_000057.4(BLM):c.1840G>C (p.Ala614Pro)
NM_000057.4(BLM):c.1844A>G (p.Gln615Arg) rs1895978967
NM_000057.4(BLM):c.1846A>T (p.Asn616Tyr) rs1895979171
NM_000057.4(BLM):c.1849A>G (p.Ile617Val)
NM_000057.4(BLM):c.1850T>C (p.Ile617Thr) rs868510206
NM_000057.4(BLM):c.1856_1858del (p.Phe619del) rs1555419996
NM_000057.4(BLM):c.1857C>G (p.Phe619Leu)
NM_000057.4(BLM):c.1863G>C (p.Glu621Asp) rs374965438
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr) rs1567041556
NM_000057.4(BLM):c.186T>A (p.Asn62Lys) rs146735953
NM_000057.4(BLM):c.1871A>G (p.Gln624Arg) rs2151159195
NM_000057.4(BLM):c.1879A>G (p.Thr627Ala) rs1895981084
NM_000057.4(BLM):c.1880C>T (p.Thr627Ile)
NM_000057.4(BLM):c.1882G>A (p.Asp628Asn)
NM_000057.4(BLM):c.1883-19A>G
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr) rs1567042153
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro) rs1567042153
NM_000057.4(BLM):c.1891G>C (p.Ala631Pro)
NM_000057.4(BLM):c.1894C>A (p.Gln632Lys) rs746857727
NM_000057.4(BLM):c.1895A>C (p.Gln632Pro) rs1896025240
NM_000057.4(BLM):c.1907C>G (p.Ser636Cys) rs1596232081
NM_000057.4(BLM):c.1909A>G (p.Arg637Gly)
NM_000057.4(BLM):c.190G>C (p.Asp64His) rs1895602796
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.4(BLM):c.1915C>A (p.Leu639Met)
NM_000057.4(BLM):c.1918A>G (p.Lys640Glu)
NM_000057.4(BLM):c.191A>C (p.Asp64Ala) rs140382474
NM_000057.4(BLM):c.1922A>T (p.His641Leu) rs2151160545
NM_000057.4(BLM):c.1927C>A (p.Arg643Ser) rs373090621
NM_000057.4(BLM):c.1928G>T (p.Arg643Leu)
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.4(BLM):c.1934A>T (p.Gln645Leu) rs377563699
NM_000057.4(BLM):c.1937G>C (p.Ser646Thr)
NM_000057.4(BLM):c.1939C>G (p.Leu647Val) rs1896027269
NM_000057.4(BLM):c.1939C>T (p.Leu647Phe) rs1896027269
NM_000057.4(BLM):c.193G>A (p.Val65Ile) rs1895603124
NM_000057.4(BLM):c.1940T>C (p.Leu647Pro) rs1555420162
NM_000057.4(BLM):c.1949C>T (p.Pro650Leu) rs2151160613
NM_000057.4(BLM):c.1958A>C (p.Lys653Thr) rs1896028357
NM_000057.4(BLM):c.1958A>T (p.Lys653Met) rs1896028357
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del) rs1555420164
NM_000057.4(BLM):c.1965G>C (p.Met655Ile) rs369777747
NM_000057.4(BLM):c.1966A>G (p.Met656Val) rs2151160648
NM_000057.4(BLM):c.196A>G (p.Asn66Asp)
NM_000057.4(BLM):c.1970A>T (p.Lys657Met) rs1896029053
NM_000057.4(BLM):c.1972A>G (p.Ile658Val) rs1567042248
NM_000057.4(BLM):c.1973T>C (p.Ile658Thr) rs187379039
NM_000057.4(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.4(BLM):c.1979A>G (p.His660Arg) rs1896029572
NM_000057.4(BLM):c.1987T>A (p.Phe663Ile)
NM_000057.4(BLM):c.1995G>T (p.Leu665=)
NM_000057.4(BLM):c.199G>A (p.Val67Ile) rs991350762
NM_000057.4(BLM):c.1A>G (p.Met1Val)
NM_000057.4(BLM):c.2016G>C (p.Gln672His)
NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)
NM_000057.4(BLM):c.2032G>T (p.Ala678Ser)
NM_000057.4(BLM):c.2035G>A (p.Ala679Thr) rs1896031109
NM_000057.4(BLM):c.2050G>A (p.Asp684Asn) rs2151160786
NM_000057.4(BLM):c.2054G>A (p.Cys685Tyr) rs1896032110
NM_000057.4(BLM):c.2056T>C (p.Phe686Leu) rs1896032220
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2060T>C (p.Ile687Thr)
NM_000057.4(BLM):c.2061C>G (p.Ile687Met) rs2151160806
NM_000057.4(BLM):c.2063T>C (p.Leu688Pro)
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.4(BLM):c.2071A>T (p.Thr691Ser) rs2151160830
NM_000057.4(BLM):c.2072C>T (p.Thr691Ile) rs1896032772
NM_000057.4(BLM):c.2074+5_2074+8del
NM_000057.4(BLM):c.2075-14T>G
NM_000057.4(BLM):c.2075-3C>T rs1896091271
NM_000057.4(BLM):c.2077G>A (p.Gly693Ser) rs565078630
NM_000057.4(BLM):c.2084A>G (p.Lys695Arg) rs2151162329
NM_000057.4(BLM):c.2086A>G (p.Ser696Gly) rs1896091802
NM_000057.4(BLM):c.208G>A (p.Asp70Asn) rs769957028
NM_000057.4(BLM):c.2090T>C (p.Leu697Ser) rs1896092004
NM_000057.4(BLM):c.2096A>G (p.Tyr699Cys)
NM_000057.4(BLM):c.209A>G (p.Asp70Gly) rs2151146849
NM_000057.4(BLM):c.2101C>A (p.Leu701Ile)
NM_000057.4(BLM):c.2102T>G (p.Leu701Arg) rs759414733
NM_000057.4(BLM):c.2110T>C (p.Cys704Arg)
NM_000057.4(BLM):c.2113G>C (p.Val705Leu) rs767321886
NM_000057.4(BLM):c.2114T>A (p.Val705Asp) rs1596234166
NM_000057.4(BLM):c.2117C>T (p.Ser706Phe) rs1596234178
NM_000057.4(BLM):c.211T>A (p.Phe71Ile)
NM_000057.4(BLM):c.211T>C (p.Phe71Leu) rs2151146855
NM_000057.4(BLM):c.2122G>A (p.Gly708Arg) rs1555420390
NM_000057.4(BLM):c.2122G>C (p.Gly708Arg) rs1555420390
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu) rs763559820
NM_000057.4(BLM):c.2126T>A (p.Val709Asp) rs1896094774
NM_000057.4(BLM):c.2131G>A (p.Val711Ile) rs2151162449
NM_000057.4(BLM):c.2134_2136del (p.Val712del)
NM_000057.4(BLM):c.2137A>G (p.Ile713Val) rs1896094984
NM_000057.4(BLM):c.2139T>G (p.Ile713Met) rs1896095110
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
NM_000057.4(BLM):c.2143C>T (p.Pro715Ser) rs1060500636
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.4(BLM):c.2159T>C (p.Ile720Thr)
NM_000057.4(BLM):c.2165A>G (p.Asp722Gly) rs1896096525
NM_000057.4(BLM):c.2167C>G (p.Gln723Glu) rs2151162501
NM_000057.4(BLM):c.2170G>A (p.Val724Ile) rs1896096762
NM_000057.4(BLM):c.2171T>G (p.Val724Gly)
NM_000057.4(BLM):c.2183C>A (p.Thr728Asn) rs1567043208
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser) rs1567043208
NM_000057.4(BLM):c.2185T>G (p.Ser729Ala) rs2151162523
NM_000057.4(BLM):c.2186C>T (p.Ser729Phe)
NM_000057.4(BLM):c.2191G>A (p.Asp731Asn) rs1459619445
NM_000057.4(BLM):c.2193+5G>C
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe) rs1555420546
NM_000057.4(BLM):c.2197C>T (p.Pro733Ser)
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr) rs1301298294
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser) rs1301298294
NM_000057.4(BLM):c.2204C>T (p.Thr735Ile) rs1596235743
NM_000057.4(BLM):c.2205A>G (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2206T>C (p.Tyr736His) rs2151163786
NM_000057.4(BLM):c.220A>G (p.Ser74Gly) rs1895604535
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala) rs1050741211
NM_000057.4(BLM):c.2213C>T (p.Thr738Ile)
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser) rs745642690
NM_000057.4(BLM):c.221G>T (p.Ser74Ile)
NM_000057.4(BLM):c.2224A>T (p.Thr742Ser) rs1596235858
NM_000057.4(BLM):c.2234A>G (p.Glu745Gly)
NM_000057.4(BLM):c.2236G>A (p.Ala746Thr) rs1896147300
NM_000057.4(BLM):c.2239A>G (p.Thr747Ala)
NM_000057.4(BLM):c.223G>C (p.Glu75Gln) rs1205667946
NM_000057.4(BLM):c.2240C>A (p.Thr747Lys)
NM_000057.4(BLM):c.2246T>C (p.Ile749Thr)
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe) rs1292127075
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys) rs1424485988
NM_000057.4(BLM):c.2260T>C (p.Ser754Pro) rs2151163946
NM_000057.4(BLM):c.2269G>C (p.Asp757His) rs2151163965
NM_000057.4(BLM):c.226C>T (p.Pro76Ser) rs768843912
NM_000057.4(BLM):c.2271C>A (p.Asp757Glu)
NM_000057.4(BLM):c.2273C>T (p.Pro758Leu) rs2151163980
NM_000057.4(BLM):c.2275A>G (p.Ile759Val)
NM_000057.4(BLM):c.2276T>C (p.Ile759Thr) rs1056077835
NM_000057.4(BLM):c.2278A>G (p.Ile760Val) rs1896150112
NM_000057.4(BLM):c.2278A>T (p.Ile760Leu)
NM_000057.4(BLM):c.2283A>T (p.Lys761Asn) rs1896150452
NM_000057.4(BLM):c.2288T>A (p.Leu763Gln)
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.4(BLM):c.2291A>G (p.Tyr764Cys)
NM_000057.4(BLM):c.229C>G (p.Leu77Val) rs1555418283
NM_000057.4(BLM):c.2300C>T (p.Pro767Leu)
NM_000057.4(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.4(BLM):c.2307+1G>C
NM_000057.4(BLM):c.2307+5G>A rs1596236061
NM_000057.4(BLM):c.2307+5G>C rs1596236061
NM_000057.4(BLM):c.2307G>A (p.Lys769=)
NM_000057.4(BLM):c.2308-17A>G
NM_000057.4(BLM):c.2312G>A (p.Cys771Tyr) rs1555420831
NM_000057.4(BLM):c.2312G>T (p.Cys771Phe)
NM_000057.4(BLM):c.2314G>A (p.Ala772Thr)
NM_000057.4(BLM):c.2317A>G (p.Ser773Gly)
NM_000057.4(BLM):c.2318G>A (p.Ser773Asn) rs1896222659
NM_000057.4(BLM):c.2326C>G (p.Leu776Val) rs1483824560
NM_000057.4(BLM):c.2329A>G (p.Ile777Val) rs764097842
NM_000057.4(BLM):c.232C>T (p.Pro78Ser)
NM_000057.4(BLM):c.2330T>C (p.Ile777Thr) rs2151165699
NM_000057.4(BLM):c.2331T>G (p.Ile777Met)
NM_000057.4(BLM):c.233C>G (p.Pro78Arg) rs2151146905
NM_000057.4(BLM):c.2344A>G (p.Asn782Asp)
NM_000057.4(BLM):c.2345A>G (p.Asn782Ser) rs1896223925
NM_000057.4(BLM):c.2350T>C (p.Tyr784His)
NM_000057.4(BLM):c.2351A>T (p.Tyr784Phe)
NM_000057.4(BLM):c.2359A>G (p.Lys787Glu) rs2151165751
NM_000057.4(BLM):c.2362C>G (p.Leu788Val) rs149754073
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe) rs149754073
NM_000057.4(BLM):c.2368G>A (p.Ala790Thr)
NM_000057.4(BLM):c.2368G>C (p.Ala790Pro)
NM_000057.4(BLM):c.2368G>T (p.Ala790Ser) rs777355959
NM_000057.4(BLM):c.2369C>A (p.Ala790Glu)
NM_000057.4(BLM):c.2369C>T (p.Ala790Val) rs2151165767
NM_000057.4(BLM):c.2374T>G (p.Phe792Val) rs982156188
NM_000057.4(BLM):c.2375T>G (p.Phe792Cys)
NM_000057.4(BLM):c.2377G>A (p.Val793Ile) rs1198070682
NM_000057.4(BLM):c.2383G>A (p.Asp795Asn)
NM_000057.4(BLM):c.2384A>C (p.Asp795Ala)
NM_000057.4(BLM):c.2384A>G (p.Asp795Gly) rs1596238327
NM_000057.4(BLM):c.2389G>A (p.Ala797Thr)
NM_000057.4(BLM):c.2389G>C (p.Ala797Pro)
NM_000057.4(BLM):c.238A>G (p.Thr80Ala) rs1555418290
NM_000057.4(BLM):c.2390C>T (p.Ala797Val) rs1896226916
NM_000057.4(BLM):c.2392C>G (p.His798Asp) rs1896227131
NM_000057.4(BLM):c.2393A>G (p.His798Arg) rs1596238349
NM_000057.4(BLM):c.2393A>T (p.His798Leu) rs1596238349
NM_000057.4(BLM):c.239C>T (p.Thr80Ile) rs766303926
NM_000057.4(BLM):c.2400C>A (p.Val800=)
NM_000057.4(BLM):c.2402G>C (p.Ser801Thr) rs1348827963
NM_000057.4(BLM):c.2407-5A>G rs1555420870
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.2407T>A (p.Trp803Arg) rs148394770
NM_000057.4(BLM):c.2414A>G (p.His805Arg) rs766292814
NM_000057.4(BLM):c.2415T>A (p.His805Gln) rs1896235784
NM_000057.4(BLM):c.2419T>C (p.Phe807Leu)
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2420T>G (p.Phe807Cys)
NM_000057.4(BLM):c.2422C>G (p.Arg808Gly)
NM_000057.4(BLM):c.2427A>G (p.Gln809=) rs1896236372
NM_000057.4(BLM):c.242C>A (p.Thr81Lys)
NM_000057.4(BLM):c.242C>G (p.Thr81Arg) rs1895606466
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu) rs763827222
NM_000057.4(BLM):c.2435A>G (p.Lys812Arg)
NM_000057.4(BLM):c.2438G>C (p.Arg813Thr)
NM_000057.4(BLM):c.2441T>C (p.Met814Thr) rs1596238678
NM_000057.4(BLM):c.2442G>T (p.Met814Ile) rs1896237351
NM_000057.4(BLM):c.2445T>G (p.Asn815Lys) rs1896237458
NM_000057.4(BLM):c.2448G>A (p.Met816Ile)
NM_000057.4(BLM):c.2449C>G (p.Leu817Val)
NM_000057.4(BLM):c.244A>T (p.Asn82Tyr) rs2151146930
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys) rs1279814185
NM_000057.4(BLM):c.2453G>T (p.Arg818Leu) rs780514723
NM_000057.4(BLM):c.2456A>C (p.Gln819Pro)
NM_000057.4(BLM):c.2459A>G (p.Lys820Arg) rs1896238883
NM_000057.4(BLM):c.245A>G (p.Asn82Ser) rs1555418292
NM_000057.4(BLM):c.2460G>T (p.Lys820Asn) rs1596238751
NM_000057.4(BLM):c.2465C>G (p.Pro822Arg) rs2151166181
NM_000057.4(BLM):c.2468C>G (p.Ser823Cys)
NM_000057.4(BLM):c.2476G>T (p.Val826Leu) rs1319281718
NM_000057.4(BLM):c.2480T>A (p.Met827Lys) rs748250819
NM_000057.4(BLM):c.2480T>C (p.Met827Thr) rs748250819
NM_000057.4(BLM):c.2483C>T (p.Ala828Val) rs2151166225
NM_000057.4(BLM):c.2485C>T (p.Leu829Phe)
NM_000057.4(BLM):c.2489C>A (p.Thr830Lys) rs759545027
NM_000057.4(BLM):c.2489C>G (p.Thr830Arg) rs759545027
NM_000057.4(BLM):c.248A>G (p.Gln83Arg) rs377192173
NM_000057.4(BLM):c.2491G>A (p.Ala831Thr) rs2151166245
NM_000057.4(BLM):c.2491G>C (p.Ala831Pro)
NM_000057.4(BLM):c.2492C>T (p.Ala831Val)
NM_000057.4(BLM):c.2495C>T (p.Thr832Ile)
NM_000057.4(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.4(BLM):c.2501A>C (p.Asn834Thr) rs1896241238
NM_000057.4(BLM):c.2503C>T (p.Pro835Ser) rs2151166278
NM_000057.4(BLM):c.2506A>G (p.Arg836Gly) rs577806633
NM_000057.4(BLM):c.2512C>A (p.Gln838Lys) rs2151166312
NM_000057.4(BLM):c.2515_2517del (p.Lys839del)
NM_000057.4(BLM):c.2516A>C (p.Lys839Thr)
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg) rs756815062
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn) rs1238410843
NM_000057.4(BLM):c.2518G>C (p.Asp840His) rs1238410843
NM_000057.4(BLM):c.2519A>C (p.Asp840Ala) rs1896242514
NM_000057.4(BLM):c.2528C>T (p.Thr843Ile) rs137853152
NM_000057.4(BLM):c.252A>C (p.Gln84His) rs370062646
NM_000057.4(BLM):c.2532G>T (p.Gln844His) rs1596238939
NM_000057.4(BLM):c.2534T>C (p.Leu845Pro)
NM_000057.4(BLM):c.2536A>G (p.Lys846Glu) rs2151166388
NM_000057.4(BLM):c.2537A>C (p.Lys846Thr) rs2151166394
NM_000057.4(BLM):c.2539A>C (p.Ile847Leu) rs1896243843
NM_000057.4(BLM):c.2539A>T (p.Ile847Phe) rs1896243843
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser) rs756664681
NM_000057.4(BLM):c.2543T>G (p.Leu848Arg) rs2151166410
NM_000057.4(BLM):c.2548C>T (p.Pro850Ser)
NM_000057.4(BLM):c.2549C>G (p.Pro850Arg)
NM_000057.4(BLM):c.2549C>T (p.Pro850Leu) rs1896244485
NM_000057.4(BLM):c.254G>A (p.Arg85Lys)
NM_000057.4(BLM):c.2553G>C (p.Gln851His)
NM_000057.4(BLM):c.2553G>T (p.Gln851His) rs1896244976
NM_000057.4(BLM):c.2554G>C (p.Val852Leu) rs1896245090
NM_000057.4(BLM):c.2555+5del
NM_000057.4(BLM):c.2555+6T>C rs1596238993
NM_000057.4(BLM):c.2556-12G>A
NM_000057.4(BLM):c.2556-18T>G rs2151177989
NM_000057.4(BLM):c.2556-8T>A rs1567052156
NM_000057.4(BLM):c.2556G>T (p.Val852=) rs1896650229
NM_000057.4(BLM):c.2561G>T (p.Ser854Ile)
NM_000057.4(BLM):c.2563A>G (p.Met855Val) rs1567052166
NM_000057.4(BLM):c.2565G>C (p.Met855Ile)
NM_000057.4(BLM):c.256G>C (p.Val86Leu) rs1596218041
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser) rs1567052169
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp) rs1555422355
NM_000057.4(BLM):c.2574C>T (p.Asn858=)
NM_000057.4(BLM):c.2576G>A (p.Arg859Lys)
NM_000057.4(BLM):c.2579A>G (p.His860Arg)
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
NM_000057.4(BLM):c.2584C>G (p.Leu862Val) rs1596250300
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser) rs777842626
NM_000057.4(BLM):c.2596G>A (p.Val866Ile) rs1316728192
NM_000057.4(BLM):c.2601A>C (p.Leu867Phe)
NM_000057.4(BLM):c.2603C>A (p.Pro868Gln) rs2227935
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg) rs2227935
NM_000057.4(BLM):c.2605A>C (p.Lys869Gln) rs1555422363
NM_000057.4(BLM):c.2605A>G (p.Lys869Glu)
NM_000057.4(BLM):c.2608A>C (p.Lys870Gln) rs2151178094
NM_000057.4(BLM):c.2614A>G (p.Lys872Glu)
NM_000057.4(BLM):c.2617A>G (p.Lys873Glu) rs2151178110
NM_000057.4(BLM):c.2618A>T (p.Lys873Met)
NM_000057.4(BLM):c.2620G>A (p.Val874Met) rs1896652959
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu) rs1596250413
NM_000057.4(BLM):c.2629G>T (p.Asp877Tyr)
NM_000057.4(BLM):c.262G>C (p.Asp88His) rs752379441
NM_000057.4(BLM):c.262G>T (p.Asp88Tyr)
NM_000057.4(BLM):c.2630A>G (p.Asp877Gly) rs1373872204
NM_000057.4(BLM):c.2633G>A (p.Cys878Tyr)
NM_000057.4(BLM):c.2639A>G (p.Glu880Gly) rs2151178151
NM_000057.4(BLM):c.2643G>C (p.Trp881Cys) rs367543039
NM_000057.4(BLM):c.2643G>T (p.Trp881Cys)
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly) rs1035944262
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del) rs1555418301
NM_000057.4(BLM):c.2653C>T (p.His885Tyr) rs2151178164
NM_000057.4(BLM):c.2656C>T (p.His886Tyr)
NM_000057.4(BLM):c.265T>A (p.Phe89Ile) rs1895607752
NM_000057.4(BLM):c.2662+3G>A rs1297020716
NM_000057.4(BLM):c.2662+6T>C
NM_000057.4(BLM):c.2663-13G>A
NM_000057.4(BLM):c.2663-5G>A rs1161787867
NM_000057.4(BLM):c.2671G>A (p.Gly891Arg)
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2673G>T (p.Gly891=)
NM_000057.4(BLM):c.2676A>G (p.Ile892Met)
NM_000057.4(BLM):c.267C>A (p.Phe89Leu)
NM_000057.4(BLM):c.2683T>G (p.Cys895Gly) rs587779883
NM_000057.4(BLM):c.2686C>G (p.Leu896Val) rs151309611
NM_000057.4(BLM):c.2686C>T (p.Leu896Phe) rs151309611
NM_000057.4(BLM):c.2689T>C (p.Ser897Pro) rs1896706876
NM_000057.4(BLM):c.2695C>G (p.Arg899Gly) rs587779884
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2702G>T (p.Cys901Phe) rs758311406
NM_000057.4(BLM):c.2705A>G (p.Asp902Gly)
NM_000057.4(BLM):c.2708C>A (p.Thr903Asn) rs777584683
NM_000057.4(BLM):c.2711T>C (p.Met904Thr)
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr) rs1596252085
NM_000057.4(BLM):c.2716G>A (p.Asp906Asn) rs2151179756
NM_000057.4(BLM):c.2718C>A (p.Asp906Glu)
NM_000057.4(BLM):c.2719A>G (p.Thr907Ala) rs2151179767
NM_000057.4(BLM):c.271A>G (p.Lys91Glu)
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu) rs1456964727
NM_000057.4(BLM):c.2725_2751del (p.Gln909_Ala917del)
NM_000057.4(BLM):c.2726A>C (p.Gln909Pro) rs770627241
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr) rs1567053290
NM_000057.4(BLM):c.2732A>T (p.Asp911Val) rs1596252149
NM_000057.4(BLM):c.2735G>A (p.Gly912Glu) rs2151179803
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr) rs1896709530
NM_000057.4(BLM):c.2743G>C (p.Ala915Pro)
NM_000057.4(BLM):c.2746C>G (p.Leu916Val) rs1424143421
NM_000057.4(BLM):c.2755C>A (p.His919Asn) rs1284859576
NM_000057.4(BLM):c.2755C>G (p.His919Asp)
NM_000057.4(BLM):c.2759C>G (p.Ala920Gly)
NM_000057.4(BLM):c.2762G>T (p.Gly921Val)
NM_000057.4(BLM):c.2768G>A (p.Ser923Asn) rs1219485932
NM_000057.4(BLM):c.2768G>C (p.Ser923Thr) rs1219485932
NM_000057.4(BLM):c.2769T>A (p.Ser923Arg)
NM_000057.4(BLM):c.2773T>G (p.Ser925Ala) rs1896710618
NM_000057.4(BLM):c.2774C>A (p.Ser925Tyr) rs2151179877
NM_000057.4(BLM):c.2774C>T (p.Ser925Phe)
NM_000057.4(BLM):c.2776G>T (p.Ala926Ser) rs1896710799
NM_000057.4(BLM):c.2779A>G (p.Arg927Gly) rs1896710903
NM_000057.4(BLM):c.277G>A (p.Ala93Thr)
NM_000057.4(BLM):c.2780G>C (p.Arg927Thr)
NM_000057.4(BLM):c.2782G>T (p.Asp928Tyr)
NM_000057.4(BLM):c.2783A>G (p.Asp928Gly) rs1896711135
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp) rs764679551
NM_000057.4(BLM):c.2789T>G (p.Val930Gly) rs2151179915
NM_000057.4(BLM):c.278C>A (p.Ala93Asp) rs2151147003
NM_000057.4(BLM):c.2792A>G (p.Gln931Arg) rs1178355159
NM_000057.4(BLM):c.2797A>G (p.Lys933Glu)
NM_000057.4(BLM):c.2802G>T (p.Trp934Cys) rs2151179931
NM_000057.4(BLM):c.280C>T (p.Pro94Ser) rs1417089374
NM_000057.4(BLM):c.2814T>A (p.Asp938Glu)
NM_000057.4(BLM):c.2823G>A (p.Gln941=)
NM_000057.4(BLM):c.2824-3C>T rs2151184427
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.2824G>C (p.Val942Leu)
NM_000057.4(BLM):c.2825T>C (p.Val942Ala)
NM_000057.4(BLM):c.2829C>G (p.Ile943Met) rs1596257034
NM_000057.4(BLM):c.2833G>A (p.Ala945Thr) rs1896880211
NM_000057.4(BLM):c.2833G>T (p.Ala945Ser)
NM_000057.4(BLM):c.2837C>A (p.Thr946Lys) rs2151184440
NM_000057.4(BLM):c.2837C>T (p.Thr946Ile) rs2151184440
NM_000057.4(BLM):c.283G>A (p.Ala95Thr) rs1432459834
NM_000057.4(BLM):c.2843C>A (p.Ala948Glu) rs1156545383
NM_000057.4(BLM):c.2849G>A (p.Gly950Glu)
NM_000057.4(BLM):c.284C>A (p.Ala95Glu) rs751028188
NM_000057.4(BLM):c.284C>T (p.Ala95Val) rs751028188
NM_000057.4(BLM):c.2853G>C (p.Met951Ile)
NM_000057.4(BLM):c.2853G>T (p.Met951Ile) rs1896881384
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.2872G>T (p.Val958Leu)
NM_000057.4(BLM):c.2873T>A (p.Val958Glu) rs1555423088
NM_000057.4(BLM):c.2875C>A (p.Arg959=) rs762354041
NM_000057.4(BLM):c.2881G>A (p.Val961Met)
NM_000057.4(BLM):c.2881G>T (p.Val961Leu) rs1060500639
NM_000057.4(BLM):c.2882T>C (p.Val961Ala) rs1567056582
NM_000057.4(BLM):c.2884A>T (p.Ile962Phe) rs1896883323
NM_000057.4(BLM):c.2887C>A (p.His963Asn)
NM_000057.4(BLM):c.2887C>T (p.His963Tyr) rs367543023
NM_000057.4(BLM):c.2890G>A (p.Ala964Thr)
NM_000057.4(BLM):c.2891C>T (p.Ala964Val)
NM_000057.4(BLM):c.2893T>A (p.Ser965Thr) rs1349078237
NM_000057.4(BLM):c.2897T>C (p.Leu966Pro)
NM_000057.4(BLM):c.2900C>A (p.Pro967His) rs2151184560
NM_000057.4(BLM):c.2900C>G (p.Pro967Arg)
NM_000057.4(BLM):c.2905T>A (p.Ser969Thr)
NM_000057.4(BLM):c.290A>C (p.Gln97Pro)
NM_000057.4(BLM):c.2911G>A (p.Glu971Lys) rs2151184569
NM_000057.4(BLM):c.2917T>A (p.Tyr973Asn) rs1555423104
NM_000057.4(BLM):c.2921A>C (p.Tyr974Ser) rs1051102270
NM_000057.4(BLM):c.2925A>T (p.Gln975His)
NM_000057.4(BLM):c.2929T>G (p.Ser977Ala) rs912097353
NM_000057.4(BLM):c.292G>A (p.Glu98Lys) rs1895608811
NM_000057.4(BLM):c.2936G>A (p.Arg979Lys) rs944867688
NM_000057.4(BLM):c.2938G>A (p.Ala980Thr) rs1041847799
NM_000057.4(BLM):c.2939C>T (p.Ala980Val)
NM_000057.4(BLM):c.2942G>C (p.Gly981Ala)
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys) rs1281589498
NM_000057.4(BLM):c.2947G>T (p.Asp983Tyr) rs1896886181
NM_000057.4(BLM):c.2948A>T (p.Asp983Val) rs1896886266
NM_000057.4(BLM):c.2955A>C (p.Glu985Asp)
NM_000057.4(BLM):c.2957T>C (p.Ile986Thr) rs1060500631
NM_000057.4(BLM):c.2960C>G (p.Ser987Cys) rs1555423111
NM_000057.4(BLM):c.2960C>T (p.Ser987Phe) rs1555423111
NM_000057.4(BLM):c.2962C>T (p.His988Tyr) rs1896886993
NM_000057.4(BLM):c.2965T>C (p.Cys989Arg) rs1555423112
NM_000057.4(BLM):c.2966G>T (p.Cys989Phe)
NM_000057.4(BLM):c.2974T>C (p.Phe992Leu) rs2151184675
NM_000057.4(BLM):c.2980A>G (p.Thr994Ala) rs1060500632
NM_000057.4(BLM):c.2983T>A (p.Tyr995Asn) rs142723411
NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys) rs779755994
NM_000057.4(BLM):c.2984A>T (p.Tyr995Phe) rs779755994
NM_000057.4(BLM):c.2986C>T (p.His996Tyr)
NM_000057.4(BLM):c.2988T>G (p.His996Gln)
NM_000057.4(BLM):c.2996C>G (p.Thr999Ser) rs1567056730
NM_000057.4(BLM):c.2996C>T (p.Thr999Ile) rs1567056730
NM_000057.4(BLM):c.2999G>C (p.Arg1000Thr) rs1596257309
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser) rs1395403568
NM_000057.4(BLM):c.3010C>T (p.Leu1004Phe) rs778515103
NM_000057.4(BLM):c.3011T>A (p.Leu1004His) rs2151184755
NM_000057.4(BLM):c.3012_3014dup (p.Ile1005_Met1006insIle)
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.4(BLM):c.3014T>A (p.Ile1005Lys) rs772671554
NM_000057.4(BLM):c.3015A>G (p.Ile1005Met) rs1567056762
NM_000057.4(BLM):c.3015_3017del (p.Ile1005del) rs2151184770
NM_000057.4(BLM):c.3017T>A (p.Met1006Lys) rs1896890020
NM_000057.4(BLM):c.3020-3T>C rs1896971029
NM_000057.4(BLM):c.3020-4_3020-3del rs1596259793
NM_000057.4(BLM):c.3020-7_3020-5del rs1596259785
NM_000057.4(BLM):c.3023A>T (p.Glu1008Val) rs1896971371
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val) rs1459742200
NM_000057.4(BLM):c.3035A>G (p.Asn1012Ser) rs1896971948
NM_000057.4(BLM):c.3038A>G (p.His1013Arg) rs2151187153
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3040C>G (p.His1014Asp) rs1896972234
NM_000057.4(BLM):c.3043A>G (p.Thr1015Ala) rs1896972529
NM_000057.4(BLM):c.3044C>A (p.Thr1015Lys)
NM_000057.4(BLM):c.3046A>G (p.Arg1016Gly) rs1596259855
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr) rs2151187181
NM_000057.4(BLM):c.3049G>C (p.Glu1017Gln)
NM_000057.4(BLM):c.304G>A (p.Gly102Ser) rs1215126785
NM_000057.4(BLM):c.3050A>G (p.Glu1017Gly) rs2151187186
NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala) rs1896972868
NM_000057.4(BLM):c.3055C>G (p.His1019Asp)
NM_000057.4(BLM):c.3056A>C (p.His1019Pro) rs769982824
NM_000057.4(BLM):c.305G>A (p.Gly102Asp) rs1186813751
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp) rs374105075
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile) rs369629509
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr) rs1567058281
NM_000057.4(BLM):c.3078G>A (p.Met1026Ile) rs2151187237
NM_000057.4(BLM):c.3078G>T (p.Met1026Ile) rs2151187237
NM_000057.4(BLM):c.3080T>C (p.Val1027Ala) rs373868675
NM_000057.4(BLM):c.3083A>G (p.His1028Arg) rs1487267563
NM_000057.4(BLM):c.3083A>T (p.His1028Leu)
NM_000057.4(BLM):c.3088T>G (p.Cys1030Gly) rs1896974604
NM_000057.4(BLM):c.3091G>A (p.Glu1031Lys) rs1396000294
NM_000057.4(BLM):c.3092A>G (p.Glu1031Gly) rs2151187263
NM_000057.4(BLM):c.3094A>T (p.Asn1032Tyr) rs1311585637
NM_000057.4(BLM):c.3101C>A (p.Thr1034Lys) rs753652339
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met) rs753652339
NM_000057.4(BLM):c.3106T>A (p.Cys1036Ser)
NM_000057.4(BLM):c.3109A>G (p.Arg1037Gly) rs2151187299
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.4(BLM):c.3114A>C (p.Arg1038Ser) rs1896976226
NM_000057.4(BLM):c.3116T>A (p.Ile1039Lys) rs1896976347
NM_000057.4(BLM):c.3121C>T (p.Leu1041Phe) rs1224723855
NM_000057.4(BLM):c.3128C>T (p.Ala1043Val) rs2229035
NM_000057.4(BLM):c.3131A>C (p.Tyr1044Ser)
NM_000057.4(BLM):c.3135T>G (p.Phe1045Leu)
NM_000057.4(BLM):c.3136G>C (p.Gly1046Arg) rs373241803
NM_000057.4(BLM):c.3143A>G (p.Asn1048Ser)
NM_000057.4(BLM):c.3146G>A (p.Gly1049Glu) rs2151187363
NM_000057.4(BLM):c.3148T>C (p.Phe1050Leu) rs2151187365
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys) rs1262516507
NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr) rs1596260044
NM_000057.4(BLM):c.3154C>T (p.Pro1052Ser)
NM_000057.4(BLM):c.3157G>A (p.Asp1053Asn)
NM_000057.4(BLM):c.3160T>G (p.Phe1054Val) rs2151187383
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3167A>G (p.Lys1056Arg) rs1465842377
NM_000057.4(BLM):c.3171A>T (p.Lys1057Asn)
NM_000057.4(BLM):c.3181G>A (p.Val1061Ile)
NM_000057.4(BLM):c.3181G>T (p.Val1061Phe)
NM_000057.4(BLM):c.3188G>A (p.Cys1063Tyr) rs2151187434
NM_000057.4(BLM):c.3188G>T (p.Cys1063Phe)
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del) rs1555418313
NM_000057.4(BLM):c.3190G>A (p.Asp1064Asn) rs1896979510
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.4(BLM):c.3199T>C (p.Cys1067Arg) rs1896980012
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr) rs587779885
NM_000057.4(BLM):c.3210+3A>G
NM_000057.4(BLM):c.3210+3A>T rs2151187459
NM_000057.4(BLM):c.3211-3T>C rs1897074828
NM_000057.4(BLM):c.3212A>G (p.Asp1071Gly) rs1897075069
NM_000057.4(BLM):c.3215A>T (p.Tyr1072Phe)
NM_000057.4(BLM):c.3221C>G (p.Thr1074Arg) rs144021705
NM_000057.4(BLM):c.3224G>A (p.Arg1075Lys) rs749559270
NM_000057.4(BLM):c.3227A>T (p.Asp1076Val) rs1897075823
NM_000057.4(BLM):c.3228T>G (p.Asp1076Glu) rs2151190260
NM_000057.4(BLM):c.3229G>T (p.Val1077Leu) rs779096973
NM_000057.4(BLM):c.3230T>C (p.Val1077Ala)
NM_000057.4(BLM):c.3233C>G (p.Thr1078Ser) rs1897076116
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn) rs771767745
NM_000057.4(BLM):c.3238G>C (p.Asp1080His) rs771767745
NM_000057.4(BLM):c.3239A>C (p.Asp1080Ala) rs775383361
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val) rs775383361
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.4(BLM):c.3242T>G (p.Val1081Gly) rs762716289
NM_000057.4(BLM):c.3247A>C (p.Ser1083Arg) rs2151190310
NM_000057.4(BLM):c.324G>T (p.Leu108Phe) rs1198433222
NM_000057.4(BLM):c.3250A>G (p.Ile1084Val)
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu) rs761235042
NM_000057.4(BLM):c.3254T>G (p.Val1085Gly) rs2151190324
NM_000057.4(BLM):c.3259T>C (p.Phe1087Leu)
NM_000057.4(BLM):c.325C>T (p.Pro109Ser)
NM_000057.4(BLM):c.3260T>G (p.Phe1087Cys)
NM_000057.4(BLM):c.3262G>A (p.Val1088Ile) rs934966838
NM_000057.4(BLM):c.3262G>C (p.Val1088Leu) rs934966838
NM_000057.4(BLM):c.3262G>T (p.Val1088Phe) rs934966838
NM_000057.4(BLM):c.3263T>C (p.Val1088Ala)
NM_000057.4(BLM):c.3265C>G (p.Gln1089Glu) rs1406087403
NM_000057.4(BLM):c.326C>G (p.Pro109Arg) rs1555418317
NM_000057.4(BLM):c.3271C>A (p.His1091Asn) rs766959096
NM_000057.4(BLM):c.3272A>G (p.His1091Arg) rs750954124
NM_000057.4(BLM):c.3281C>T (p.Ser1094Leu) rs1472603091
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg) rs1334208387
NM_000057.4(BLM):c.3287G>A (p.Gly1096Glu) rs893352310
NM_000057.4(BLM):c.3287G>C (p.Gly1096Ala) rs893352310
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val) rs893352310
NM_000057.4(BLM):c.328G>C (p.Asp110His)
NM_000057.4(BLM):c.328G>T (p.Asp110Tyr)
NM_000057.4(BLM):c.3297T>G (p.Asn1099Lys) rs1596263307
NM_000057.4(BLM):c.3298A>C (p.Ile1100Leu) rs1897079693
NM_000057.4(BLM):c.3299T>C (p.Ile1100Thr)
NM_000057.4(BLM):c.3304C>T (p.His1102Tyr)
NM_000057.4(BLM):c.3313C>G (p.Pro1105Ala)
NM_000057.4(BLM):c.3314C>T (p.Pro1105Leu)
NM_000057.4(BLM):c.3317C>T (p.Ser1106Phe) rs769834593
NM_000057.4(BLM):c.3320G>A (p.Gly1107Glu)
NM_000057.4(BLM):c.3324A>G (p.Arg1108=) rs1596263375
NM_000057.4(BLM):c.3324A>T (p.Arg1108Ser) rs1596263375
NM_000057.4(BLM):c.332T>C (p.Phe111Ser)
NM_000057.4(BLM):c.3332T>C (p.Met1111Thr)
NM_000057.4(BLM):c.3334A>G (p.Asn1112Asp) rs1352520577
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser) rs1897081867
NM_000057.4(BLM):c.3336T>A (p.Asn1112Lys)
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3346G>A (p.Asp1116Asn)
NM_000057.4(BLM):c.3346G>C (p.Asp1116His) rs936749145
NM_000057.4(BLM):c.3347A>T (p.Asp1116Val)
NM_000057.4(BLM):c.3352T>G (p.Phe1118Val) rs2151190485
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu) rs1351493073
NM_000057.4(BLM):c.3357G>C (p.Leu1119Phe)
NM_000057.4(BLM):c.3358+4A>G rs1897083090
NM_000057.4(BLM):c.3358+5G>C rs2151190518
NM_000057.4(BLM):c.3358G>C (p.Gly1120Arg) rs139773499
NM_000057.4(BLM):c.3359-3C>G rs765552044
NM_000057.4(BLM):c.335T>C (p.Leu112Ser) rs1038386076
NM_000057.4(BLM):c.3362G>A (p.Ser1121Asn)
NM_000057.4(BLM):c.3362G>C (p.Ser1121Thr) rs758753168
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile) rs758753168
NM_000057.4(BLM):c.3365A>C (p.Lys1122Thr) rs1175406197
NM_000057.4(BLM):c.3367A>C (p.Ser1123Arg) rs1897212324
NM_000057.4(BLM):c.3367A>T (p.Ser1123Cys) rs1897212324
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val) rs751765688
NM_000057.4(BLM):c.3381G>T (p.Gln1127His) rs1596267417
NM_000057.4(BLM):c.3383_3384delinsATATTTGTATACTT (p.Ser1128delinsTyrIleCysIleLeu) rs1596267423
NM_000057.4(BLM):c.3385G>C (p.Gly1129Arg) rs781287681
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp) rs375841213
NM_000057.4(BLM):c.3386G>T (p.Gly1129Val) rs375841213
NM_000057.4(BLM):c.3388A>C (p.Ile1130Leu)
NM_000057.4(BLM):c.3388A>G (p.Ile1130Val) rs1897213239
NM_000057.4(BLM):c.3388A>T (p.Ile1130Leu)
NM_000057.4(BLM):c.3389T>C (p.Ile1130Thr)
NM_000057.4(BLM):c.338A>G (p.Gln113Arg) rs2151147149
NM_000057.4(BLM):c.3390A>G (p.Ile1130Met)
NM_000057.4(BLM):c.3394G>C (p.Gly1132Arg)
NM_000057.4(BLM):c.3399A>C (p.Lys1133Asn)
NM_000057.4(BLM):c.3400G>A (p.Gly1134Arg) rs1057516774
NM_000057.4(BLM):c.3401G>A (p.Gly1134Glu) rs1555424286
NM_000057.4(BLM):c.3404C>A (p.Ser1135Tyr)
NM_000057.4(BLM):c.3406_3407delinsTT (p.Ala1136Phe) rs2151194224
NM_000057.4(BLM):c.3412T>G (p.Ser1138Ala)
NM_000057.4(BLM):c.3413C>T (p.Ser1138Leu)
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro) rs771776126
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3419A>G (p.His1140Arg) rs1897214323
NM_000057.4(BLM):c.3421A>C (p.Asn1141His)
NM_000057.4(BLM):c.3421A>G (p.Asn1141Asp)
NM_000057.4(BLM):c.3430A>G (p.Arg1144Gly)
NM_000057.4(BLM):c.3431G>T (p.Arg1144Ile) rs1897214758
NM_000057.4(BLM):c.3434T>C (p.Leu1145Pro) rs1596267524
NM_000057.4(BLM):c.3436T>C (p.Phe1146Leu)
NM_000057.4(BLM):c.3437T>C (p.Phe1146Ser)
NM_000057.4(BLM):c.343C>A (p.Pro115Thr) rs1173491187
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu) rs1596267545
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr) rs1897215421
NM_000057.4(BLM):c.344C>A (p.Pro115Gln)
NM_000057.4(BLM):c.3452T>G (p.Leu1151Arg) rs1897215897
NM_000057.4(BLM):c.3456C>A (p.Asp1152Glu) rs1897216087
NM_000057.4(BLM):c.3456C>G (p.Asp1152Glu) rs1897216087
NM_000057.4(BLM):c.3457A>G (p.Lys1153Glu) rs1897216200
NM_000057.4(BLM):c.3458A>T (p.Lys1153Met) rs1897216390
NM_000057.4(BLM):c.3460A>G (p.Ile1154Val) rs2151194288
NM_000057.4(BLM):c.3467A>T (p.Asp1156Val) rs2151194299
NM_000057.4(BLM):c.3468T>A (p.Asp1156Glu) rs1325465971
NM_000057.4(BLM):c.3472G>A (p.Asp1158Asn) rs1567062737
NM_000057.4(BLM):c.3472G>C (p.Asp1158His) rs1567062737
NM_000057.4(BLM):c.3478T>A (p.Tyr1160Asn) rs752389778
NM_000057.4(BLM):c.3481A>G (p.Ile1161Val) rs1897217586
NM_000057.4(BLM):c.3486T>G (p.Asn1162Lys)
NM_000057.4(BLM):c.348G>C (p.Lys116Asn) rs749535664
NM_000057.4(BLM):c.3490A>G (p.Asn1164Asp) rs1897217918
NM_000057.4(BLM):c.3496C>G (p.Gln1166Glu) rs1596267627
NM_000057.4(BLM):c.3497A>G (p.Gln1166Arg)
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu) rs371774802
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly) rs987150263
NM_000057.4(BLM):c.3502A>T (p.Ile1168Phe)
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr) rs1897218823
NM_000057.4(BLM):c.3509A>T (p.Tyr1170Phe) rs746692894
NM_000057.4(BLM):c.3511G>A (p.Val1171Met) rs770585247
NM_000057.4(BLM):c.3512T>G (p.Val1171Gly)
NM_000057.4(BLM):c.3514A>C (p.Met1172Leu) rs745380387
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg) rs776156059
NM_000057.4(BLM):c.3521G>A (p.Gly1174Glu)
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser) rs1596267710
NM_000057.4(BLM):c.3529G>A (p.Ala1177Thr) rs1897220102
NM_000057.4(BLM):c.352G>A (p.Val118Ile)
NM_000057.4(BLM):c.3530C>T (p.Ala1177Val)
NM_000057.4(BLM):c.3533A>C (p.Gln1178Pro) rs1897220395
NM_000057.4(BLM):c.3535A>G (p.Thr1179Ala) rs1344786638
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile) rs1555424324
NM_000057.4(BLM):c.3545A>G (p.Asn1182Ser) rs767771169
NM_000057.4(BLM):c.3548G>C (p.Gly1183Ala)
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp) rs1463025227
NM_000057.4(BLM):c.3550A>T (p.Asn1184Tyr) rs1463025227
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser) rs1596267777
NM_000057.4(BLM):c.3557A>G (p.Lys1186Arg) rs1897221872
NM_000057.4(BLM):c.3558+5A>G
NM_000057.4(BLM):c.3558+6G>A rs2151194465
NM_000057.4(BLM):c.3559G>C (p.Val1187Leu) rs547814390
NM_000057.4(BLM):c.3560T>C (p.Val1187Ala)
NM_000057.4(BLM):c.3563A>G (p.Asp1188Gly) rs899745787
NM_000057.4(BLM):c.3574A>C (p.Thr1192Pro)
NM_000057.4(BLM):c.3580A>G (p.Asn1194Asp)
NM_000057.4(BLM):c.3582T>A (p.Asn1194Lys)
NM_000057.4(BLM):c.3584C>G (p.Ser1195Cys)
NM_000057.4(BLM):c.3586A>C (p.Ser1196Arg)
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys) rs1596268133
NM_000057.4(BLM):c.3593T>C (p.Val1198Ala)
NM_000057.4(BLM):c.3601_3603del (p.Gln1201del)
NM_000057.4(BLM):c.3604A>G (p.Lys1202Glu) rs1897233454
NM_000057.4(BLM):c.3606A>C (p.Lys1202Asn) rs1897233523
NM_000057.4(BLM):c.3608C>G (p.Ala1203Gly) rs757088548
NM_000057.4(BLM):c.3611T>C (p.Leu1204Ser)
NM_000057.4(BLM):c.3613G>C (p.Val1205Leu) rs28385141
NM_000057.4(BLM):c.3616G>A (p.Ala1206Thr) rs1897234089
NM_000057.4(BLM):c.3617C>A (p.Ala1206Glu) rs1319362226
NM_000057.4(BLM):c.3619A>G (p.Lys1207Glu)
NM_000057.4(BLM):c.3622G>A (p.Val1208Met)
NM_000057.4(BLM):c.362C>G (p.Thr121Ser) rs1567035318
NM_000057.4(BLM):c.3634G>C (p.Glu1212Gln) rs1897234496
NM_000057.4(BLM):c.3640A>T (p.Met1214Leu) rs2151194887
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr) rs1596268211
NM_000057.4(BLM):c.3643G>T (p.Val1215Phe)
NM_000057.4(BLM):c.3647A>C (p.Lys1216Thr) rs748798772
NM_000057.4(BLM):c.3647A>G (p.Lys1216Arg)
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.4(BLM):c.3658G>A (p.Gly1220Arg) rs1567063212
NM_000057.4(BLM):c.3659G>A (p.Gly1220Glu)
NM_000057.4(BLM):c.3659G>C (p.Gly1220Ala) rs1897235538
NM_000057.4(BLM):c.3668C>A (p.Thr1223Lys) rs772506214
NM_000057.4(BLM):c.3668C>G (p.Thr1223Arg) rs772506214
NM_000057.4(BLM):c.3668C>T (p.Thr1223Ile) rs772506214
NM_000057.4(BLM):c.3671A>C (p.Glu1224Ala) rs1596268259
NM_000057.4(BLM):c.3683C>A (p.Ser1228Tyr) rs1897236482
NM_000057.4(BLM):c.3683C>G (p.Ser1228Cys) rs1897236482
NM_000057.4(BLM):c.3683C>T (p.Ser1228Phe)
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val) rs1555424395
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile) rs1897236925
NM_000057.4(BLM):c.369A>G (p.Gln123=) rs1895612419
NM_000057.4(BLM):c.3700G>A (p.Gly1234Ser)
NM_000057.4(BLM):c.3701G>A (p.Gly1234Asp)
NM_000057.4(BLM):c.3707A>G (p.His1236Arg)
NM_000057.4(BLM):c.370A>C (p.Asn124His) rs2151147208
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile) rs1249106324
NM_000057.4(BLM):c.3730G>T (p.Val1244Phe) rs1249106324
NM_000057.4(BLM):c.3731T>C (p.Val1244Ala) rs771117920
NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser) rs1555424403
NM_000057.4(BLM):c.373A>G (p.Thr125Ala) rs1895612811
NM_000057.4(BLM):c.3740A>G (p.Lys1247Arg)
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met) rs1555424404
NM_000057.4(BLM):c.3744G>C (p.Lys1248Asn)
NM_000057.4(BLM):c.3748G>A (p.Ala1250Thr)
NM_000057.4(BLM):c.3749C>G (p.Ala1250Gly)
NM_000057.4(BLM):c.3750A>G (p.Ala1250=) rs2151195022
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3751+3G>A
NM_000057.4(BLM):c.3751G>A (p.Glu1251Lys) rs587779888
NM_000057.4(BLM):c.3752-3C>T
NM_000057.4(BLM):c.3752-7T>G rs1897346976
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val) rs1249288071
NM_000057.4(BLM):c.3758T>C (p.Leu1253Ser) rs2151198266
NM_000057.4(BLM):c.3760T>C (p.Ser1254Pro)
NM_000057.4(BLM):c.3764C>G (p.Ser1255Cys) rs1897347737
NM_000057.4(BLM):c.3764C>T (p.Ser1255Phe) rs1897347737
NM_000057.4(BLM):c.3769C>G (p.Pro1257Ala) rs144964365
NM_000057.4(BLM):c.376C>G (p.Pro126Ala) rs587778106
NM_000057.4(BLM):c.376C>T (p.Pro126Ser) rs587778106
NM_000057.4(BLM):c.3774G>C (p.Glu1258Asp) rs1596271783
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile) rs1897348236
NM_000057.4(BLM):c.3778T>G (p.Leu1260Val) rs2151198289
NM_000057.4(BLM):c.377C>G (p.Pro126Arg) rs1060500650
NM_000057.4(BLM):c.3781C>T (p.Leu1261Phe) rs1567065644
NM_000057.4(BLM):c.3785A>G (p.Gln1262Arg)
NM_000057.4(BLM):c.3786A>G (p.Gln1262=) rs1567065650
NM_000057.4(BLM):c.379A>G (p.Thr127Ala) rs528474170
NM_000057.4(BLM):c.379A>T (p.Thr127Ser)
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val) rs1897348799
NM_000057.4(BLM):c.380C>T (p.Thr127Ile) rs1895613545
NM_000057.4(BLM):c.3826G>A (p.Ala1276Thr) rs1567065690
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu) rs760554566
NM_000057.4(BLM):c.382G>A (p.Val128Ile) rs1269873284
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile) rs1018540956
NM_000057.4(BLM):c.3841G>T (p.Val1281Leu)
NM_000057.4(BLM):c.3856T>C (p.Ser1286Pro) rs1897350617
NM_000057.4(BLM):c.3856T>G (p.Ser1286Ala)
NM_000057.4(BLM):c.3857C>A (p.Ser1286Tyr)
NM_000057.4(BLM):c.3857C>G (p.Ser1286Cys) rs1423327905
NM_000057.4(BLM):c.3859G>C (p.Glu1287Gln)
NM_000057.4(BLM):c.3862T>C (p.Trp1288Arg) rs1897350898
NM_000057.4(BLM):c.3871C>A (p.Pro1291Thr) rs1234718913
NM_000057.4(BLM):c.3875-5T>C rs1596273395
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp) rs1567066745
NM_000057.4(BLM):c.3876T>C (p.Ala1292=) rs1596273405
NM_000057.4(BLM):c.387G>T (p.Lys129Asn) rs2151147257
NM_000057.4(BLM):c.3880G>A (p.Asp1294Asn) rs560132774
NM_000057.4(BLM):c.3880G>T (p.Asp1294Tyr) rs560132774
NM_000057.4(BLM):c.3883A>G (p.Ser1295Gly)
NM_000057.4(BLM):c.3887C>T (p.Ser1296Phe) rs2151199713
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met) rs1596273455
NM_000057.4(BLM):c.3899G>A (p.Ser1300Asn) rs1897407938
NM_000057.4(BLM):c.3899G>C (p.Ser1300Thr)
NM_000057.4(BLM):c.3900C>G (p.Ser1300Arg) rs769564626
NM_000057.4(BLM):c.3905C>T (p.Ser1302Phe) rs1897408433
NM_000057.4(BLM):c.3909C>A (p.Ser1303Arg) rs1897408551
NM_000057.4(BLM):c.3917G>A (p.Gly1306Asp) rs2151199760
NM_000057.4(BLM):c.3922G>C (p.Gly1308Arg) rs768010078
NM_000057.4(BLM):c.3923G>C (p.Gly1308Ala)
NM_000057.4(BLM):c.3928A>C (p.Ser1310Arg)
NM_000057.4(BLM):c.392C>T (p.Ser131Phe)
NM_000057.4(BLM):c.3930T>A (p.Ser1310Arg)
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.3935C>T (p.Ala1312Val) rs2151199800
NM_000057.4(BLM):c.3938A>C (p.Glu1313Ala) rs754033839
NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe) rs959925706
NM_000057.4(BLM):c.3944_3945delinsCT (p.Leu1315Pro) rs1567066844
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn) rs779179608
NM_000057.4(BLM):c.3946G>C (p.Asp1316His) rs779179608
NM_000057.4(BLM):c.3948C>A (p.Asp1316Glu) rs375896520
NM_000057.4(BLM):c.3952G>A (p.Glu1318Lys)
NM_000057.4(BLM):c.3953A>G (p.Glu1318Gly) rs2151199835
NM_000057.4(BLM):c.3955A>G (p.Ile1319Val)
NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr) rs1596273579
NM_000057.4(BLM):c.3958C>T (p.Pro1320Ser)
NM_000057.4(BLM):c.3959C>A (p.Pro1320His) rs2151199849
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu) rs7167216
NM_000057.4(BLM):c.3961G>T (p.Val1321Leu)
NM_000057.4(BLM):c.3965C>T (p.Ser1322Phe) rs1362006078
NM_000057.4(BLM):c.3979G>A (p.Ala1327Thr)
NM_000057.4(BLM):c.3979G>T (p.Ala1327Ser) rs2151199875
NM_000057.4(BLM):c.397G>T (p.Asp133Tyr) rs762621627
NM_000057.4(BLM):c.3983G>A (p.Ser1328Asn)
NM_000057.4(BLM):c.398A>G (p.Asp133Gly) rs1895614433
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys) rs1060500648
NM_000057.4(BLM):c.3992G>C (p.Arg1331Thr)
NM_000057.4(BLM):c.3993A>C (p.Arg1331Ser)
NM_000057.4(BLM):c.3995A>T (p.Asn1332Ile)
NM_000057.4(BLM):c.4006A>G (p.Arg1336Gly) rs1897414526
NM_000057.4(BLM):c.4009A>G (p.Lys1337Glu) rs2151199902
NM_000057.4(BLM):c.4014G>C (p.Lys1338Asn)
NM_000057.4(BLM):c.4016T>G (p.Met1339Arg) rs761320085
NM_000057.4(BLM):c.4017G>A (p.Met1339Ile)
NM_000057.4(BLM):c.4021G>T (p.Ala1341Ser) rs1596273669
NM_000057.4(BLM):c.4027C>G (p.Gln1343Glu)
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg) rs2151199942
NM_000057.4(BLM):c.4037A>G (p.Lys1346Arg) rs1596273706
NM_000057.4(BLM):c.4039A>G (p.Arg1347Gly) rs1596273711
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs) rs1555425105
NM_000057.4(BLM):c.403G>A (p.Ala135Thr)
NM_000057.4(BLM):c.403G>C (p.Ala135Pro) rs373832397
NM_000057.4(BLM):c.4049C>G (p.Thr1350Ser)
NM_000057.4(BLM):c.4057A>G (p.Ser1353Gly)
NM_000057.4(BLM):c.4058G>A (p.Ser1353Asn) rs1897417072
NM_000057.4(BLM):c.4060_4062del (p.Gly1354del) rs2151200003
NM_000057.4(BLM):c.4061G>A (p.Gly1354Asp) rs891751726
NM_000057.4(BLM):c.4061G>T (p.Gly1354Val) rs891751726
NM_000057.4(BLM):c.4064C>T (p.Ser1355Phe)
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn) rs587779890
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro) rs587778103
NM_000057.4(BLM):c.406C>T (p.Leu136Phe)
NM_000057.4(BLM):c.4076+1G>C rs752899566
NM_000057.4(BLM):c.4076+1G>T rs752899566
NM_000057.4(BLM):c.4076+1del rs763072825
NM_000057.4(BLM):c.4076+4T>A
NM_000057.4(BLM):c.4076+4T>C rs183176301
NM_000057.4(BLM):c.4076+6T>A
NM_000057.4(BLM):c.4077-2del
NM_000057.4(BLM):c.4077-8C>G
NM_000057.4(BLM):c.4078G>A (p.Gly1360Arg) rs1897524090
NM_000057.4(BLM):c.4079G>A (p.Gly1360Glu) rs1258712808
NM_000057.4(BLM):c.4081T>C (p.Ser1361Pro)
NM_000057.4(BLM):c.4085C>G (p.Ala1362Gly) rs2151202232
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg) rs1596276396
NM_000057.4(BLM):c.4091G>A (p.Cys1364Tyr)
NM_000057.4(BLM):c.4099A>G (p.Ile1367Val)
NM_000057.4(BLM):c.40G>A (p.Glu14Lys)
NM_000057.4(BLM):c.4101A>G (p.Ile1367Met) rs1897525152
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) rs587778104
NM_000057.4(BLM):c.4118C>A (p.Ser1373Tyr)
NM_000057.4(BLM):c.411_413del (p.Lys138del) rs1895614861
NM_000057.4(BLM):c.4121C>T (p.Ser1374Phe) rs1897526347
NM_000057.4(BLM):c.4123A>G (p.Ser1375Gly) rs1897526575
NM_000057.4(BLM):c.4123del (p.Ser1375fs) rs1555425410
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn) rs139115275
NM_000057.4(BLM):c.4124G>T (p.Ser1375Ile)
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.4(BLM):c.4136C>T (p.Ser1379Phe)
NM_000057.4(BLM):c.4138A>G (p.Ser1380Gly)
NM_000057.4(BLM):c.4139G>A (p.Ser1380Asn) rs2151202301
NM_000057.4(BLM):c.413A>G (p.Lys138Arg) rs1895615140
NM_000057.4(BLM):c.4142C>T (p.Ser1381Leu) rs1277229461
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter) rs1567068960
NM_000057.4(BLM):c.4150C>T (p.His1384Tyr)
NM_000057.4(BLM):c.4151A>T (p.His1384Leu)
NM_000057.4(BLM):c.4152T>A (p.His1384Gln) rs1897528380
NM_000057.4(BLM):c.4153A>G (p.Thr1385Ala) rs1382270916
NM_000057.4(BLM):c.4154C>T (p.Thr1385Ile) rs1596276510
NM_000057.4(BLM):c.4162G>A (p.Ala1388Thr) rs1567068979
NM_000057.4(BLM):c.4162G>C (p.Ala1388Pro) rs1567068979
NM_000057.4(BLM):c.4163C>G (p.Ala1388Gly) rs1567068992
NM_000057.4(BLM):c.4163C>T (p.Ala1388Val) rs1567068992
NM_000057.4(BLM):c.416T>C (p.Leu139Ser) rs1596218397
NM_000057.4(BLM):c.4171G>A (p.Gly1391Arg) rs2151202363
NM_000057.4(BLM):c.4172G>A (p.Gly1391Glu)
NM_000057.4(BLM):c.4175C>G (p.Ala1392Gly) rs1397394866
NM_000057.4(BLM):c.4177A>C (p.Asn1393His)
NM_000057.4(BLM):c.4178A>G (p.Asn1393Ser) rs1897529855
NM_000057.4(BLM):c.4181G>A (p.Ser1394Asn) rs2151202380
NM_000057.4(BLM):c.4193T>C (p.Ile1398Thr) rs2151202391
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr) rs1567069030
NM_000057.4(BLM):c.4201C>G (p.Pro1401Ala)
NM_000057.4(BLM):c.4210C>T (p.Pro1404Ser) rs1567069054
NM_000057.4(BLM):c.4211C>T (p.Pro1404Leu)
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr) rs763323767
NM_000057.4(BLM):c.4216_4217del (p.Ile1405_Asn1406insTer) rs1567069065
NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr) rs557057587
NM_000057.4(BLM):c.4221A>C (p.Arg1407Ser) rs1567069076
NM_000057.4(BLM):c.4222C>T (p.Pro1408Ser)
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg) rs1022266595
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu) rs1022266595
NM_000057.4(BLM):c.4225T>C (p.Phe1409Leu)
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe) rs1897532582
NM_000057.4(BLM):c.4229T>G (p.Leu1410Arg) rs2151202442
NM_000057.4(BLM):c.4230_4231insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGCACCTCGGGAGGCCGAGGCTGGCAGATCACTCGCGGTTAGGAGCTGGAGACCAGCCCGGCCAACACAGCGAAACACCGTCTCCACCAAAAAAATAAATAGACCGTTTCTT (p.Leu1410_Lys1411insPhePhePhePhePhePheXaaXaaXaaXaaAlaProArgGluAlaGluAlaGlyArgSerLeuAlaValArgSerTrpArgProAlaArgProThrGlnArgAsnThrValSerThrLysLysIleAsnArgProPheLeu)
NM_000057.4(BLM):c.4231A>T (p.Lys1411Ter) rs2151202445
NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg) rs1897532698
NM_000057.4(BLM):c.4232A>T (p.Lys1411Met) rs1897532698
NM_000057.4(BLM):c.4234C>A (p.Pro1412Thr) rs1249221595
NM_000057.4(BLM):c.4234C>G (p.Pro1412Ala) rs1249221595
NM_000057.4(BLM):c.4234C>T (p.Pro1412Ser)
NM_000057.4(BLM):c.4235C>T (p.Pro1412Leu)
NM_000057.4(BLM):c.4237del (p.Ser1413fs) rs1454179023
NM_000057.4(BLM):c.4239A>G (p.Ser1413=) rs1897533354
NM_000057.4(BLM):c.4241A>G (p.Tyr1414Cys)
NM_000057.4(BLM):c.4248C>G (p.Phe1416Leu) rs1567069125
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr) rs1488217859
NM_000057.4(BLM):c.430T>A (p.Ser144Thr)
NM_000057.4(BLM):c.431C>T (p.Ser144Leu) rs1596218439
NM_000057.4(BLM):c.433C>G (p.Pro145Ala) rs1555418335
NM_000057.4(BLM):c.434C>A (p.Pro145Gln) rs1895616094
NM_000057.4(BLM):c.434C>G (p.Pro145Arg) rs1895616094
NM_000057.4(BLM):c.436G>C (p.Asp146His) rs1895616204
NM_000057.4(BLM):c.437A>C (p.Asp146Ala) rs902876126
NM_000057.4(BLM):c.437A>G (p.Asp146Gly)
NM_000057.4(BLM):c.43C>A (p.Arg15Ser) rs148545569
NM_000057.4(BLM):c.446G>A (p.Ser149Asn)
NM_000057.4(BLM):c.446G>C (p.Ser149Thr)
NM_000057.4(BLM):c.448A>G (p.Thr150Ala) rs1567035400
NM_000057.4(BLM):c.449C>T (p.Thr150Ile)
NM_000057.4(BLM):c.452T>A (p.Ile151Asn) rs2151147375
NM_000057.4(BLM):c.454A>G (p.Asn152Asp) rs2151147384
NM_000057.4(BLM):c.460T>C (p.Trp154Arg) rs1226287991
NM_000057.4(BLM):c.462G>C (p.Trp154Cys) rs2151147399
NM_000057.4(BLM):c.463G>T (p.Asp155Tyr) rs2151147403
NM_000057.4(BLM):c.469A>G (p.Met157Val) rs2151147416
NM_000057.4(BLM):c.46C>G (p.His16Asp) rs1895533888
NM_000057.4(BLM):c.46C>T (p.His16Tyr)
NM_000057.4(BLM):c.470T>G (p.Met157Arg) rs773103759
NM_000057.4(BLM):c.479T>C (p.Phe160Ser)
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del) rs773427744
NM_000057.4(BLM):c.485C>T (p.Thr162Ile) rs1596218602
NM_000057.4(BLM):c.489T>A (p.Ser163=) rs781044650
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup) rs1555418362
NM_000057.4(BLM):c.491A>C (p.Glu164Ala) rs1555418365
NM_000057.4(BLM):c.492G>C (p.Glu164Asp)
NM_000057.4(BLM):c.494C>G (p.Thr165Ser)
NM_000057.4(BLM):c.497C>T (p.Ser166Leu) rs896357448
NM_000057.4(BLM):c.4G>T (p.Ala2Ser) rs199769364
NM_000057.4(BLM):c.506T>A (p.Phe169Tyr) rs1013299710
NM_000057.4(BLM):c.507T>G (p.Phe169Leu)
NM_000057.4(BLM):c.50C>T (p.Ser17Leu) rs2151145042
NM_000057.4(BLM):c.511A>G (p.Thr171Ala) rs1895622104
NM_000057.4(BLM):c.512C>T (p.Thr171Ile)
NM_000057.4(BLM):c.514C>G (p.Pro172Ala) rs1163233988
NM_000057.4(BLM):c.514C>T (p.Pro172Ser)
NM_000057.4(BLM):c.517C>A (p.Pro173Thr) rs1458936595
NM_000057.4(BLM):c.517C>T (p.Pro173Ser)
NM_000057.4(BLM):c.518C>A (p.Pro173His) rs762713320
NM_000057.4(BLM):c.518C>G (p.Pro173Arg) rs762713320
NM_000057.4(BLM):c.521A>G (p.Gln174Arg) rs1895622909
NM_000057.4(BLM):c.524G>A (p.Ser175Asn) rs2151147521
NM_000057.4(BLM):c.527A>C (p.His176Pro)
NM_000057.4(BLM):c.532G>A (p.Val178Ile) rs1191794374
NM_000057.4(BLM):c.53C>T (p.Ala18Val)
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.4(BLM):c.544A>G (p.Thr182Ala) rs1060500643
NM_000057.4(BLM):c.545C>T (p.Thr182Ile) rs749838731
NM_000057.4(BLM):c.550C>G (p.Gln184Glu)
NM_000057.4(BLM):c.556T>C (p.Ser186Pro) rs1253019128
NM_000057.4(BLM):c.559A>C (p.Lys187Gln)
NM_000057.4(BLM):c.559A>G (p.Lys187Glu) rs1895625606
NM_000057.4(BLM):c.561A>C (p.Lys187Asn) rs2151147608
NM_000057.4(BLM):c.563A>G (p.Lys188Arg) rs907949967
NM_000057.4(BLM):c.564G>C (p.Lys188Asn) rs1596218841
NM_000057.4(BLM):c.565G>A (p.Gly189Ser) rs1180631656
NM_000057.4(BLM):c.566G>T (p.Gly189Val)
NM_000057.4(BLM):c.568A>G (p.Lys190Glu) rs1895626152
NM_000057.4(BLM):c.56G>A (p.Arg19Lys) rs2151145055
NM_000057.4(BLM):c.570G>T (p.Lys190Asn) rs2151147630
NM_000057.4(BLM):c.574A>T (p.Asn192Tyr) rs2151147636
NM_000057.4(BLM):c.578T>G (p.Phe193Cys)
NM_000057.4(BLM):c.57A>T (p.Arg19Ser) rs1555418008
NM_000057.4(BLM):c.582T>A (p.Phe194Leu) rs1895626638
NM_000057.4(BLM):c.586G>A (p.Ala196Thr) rs1567035597
NM_000057.4(BLM):c.586G>C (p.Ala196Pro)
NM_000057.4(BLM):c.587C>A (p.Ala196Glu) rs1895626846
NM_000057.4(BLM):c.592C>G (p.Leu198Val) rs1346738369
NM_000057.4(BLM):c.598A>G (p.Thr200Ala) rs1895627174
NM_000057.4(BLM):c.598A>T (p.Thr200Ser) rs1895627174
NM_000057.4(BLM):c.601A>G (p.Thr201Ala) rs1895627520
NM_000057.4(BLM):c.604A>C (p.Asn202His)
NM_000057.4(BLM):c.605A>T (p.Asn202Ile) rs1596218921
NM_000057.4(BLM):c.608C>G (p.Thr203Arg)
NM_000057.4(BLM):c.60_61delinsTG (p.Leu21Val)
NM_000057.4(BLM):c.613A>G (p.Lys205Glu)
NM_000057.4(BLM):c.614A>G (p.Lys205Arg) rs1895628645
NM_000057.4(BLM):c.615G>C (p.Lys205Asn) rs28903082
NM_000057.4(BLM):c.615G>T (p.Lys205Asn) rs28903082
NM_000057.4(BLM):c.617C>A (p.Thr206Asn)
NM_000057.4(BLM):c.617C>T (p.Thr206Ile)
NM_000057.4(BLM):c.620A>T (p.Asp207Val) rs1895629239
NM_000057.4(BLM):c.623T>G (p.Leu208Trp) rs1555418411
NM_000057.4(BLM):c.624G>T (p.Leu208Phe)
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del) rs760096957
NM_000057.4(BLM):c.637T>C (p.Ser213Pro)
NM_000057.4(BLM):c.63TAA[2] (p.Asn23del)
NM_000057.4(BLM):c.645C>G (p.Ser215Arg) rs56218710
NM_000057.4(BLM):c.64A>G (p.Asn22Asp) rs1370338581
NM_000057.4(BLM):c.650A>C (p.Gln217Pro) rs1895630967
NM_000057.4(BLM):c.651A>C (p.Gln217His) rs1258361408
NM_000057.4(BLM):c.653T>C (p.Ile218Thr)
NM_000057.4(BLM):c.655G>C (p.Asp219His) rs190228320
NM_000057.4(BLM):c.656A>C (p.Asp219Ala) rs1246909789
NM_000057.4(BLM):c.656A>T (p.Asp219Val)
NM_000057.4(BLM):c.658T>A (p.Leu220Met)
NM_000057.4(BLM):c.661A>T (p.Thr221Ser) rs1895631812
NM_000057.4(BLM):c.662C>A (p.Thr221Asn) rs1407804704
NM_000057.4(BLM):c.662C>G (p.Thr221Ser)
NM_000057.4(BLM):c.667G>A (p.Glu223Lys) rs761533210
NM_000057.4(BLM):c.668A>G (p.Glu223Gly) rs1895632421
NM_000057.4(BLM):c.672G>C (p.Gln224His) rs1596219135
NM_000057.4(BLM):c.676G>T (p.Asp226Tyr) rs2151147916
NM_000057.4(BLM):c.678_680dup (p.Asp227dup) rs1555418424
NM_000057.4(BLM):c.679G>A (p.Asp227Asn) rs1555418427
NM_000057.4(BLM):c.685G>A (p.Glu229Lys) rs1555418428
NM_000057.4(BLM):c.685G>C (p.Glu229Gln) rs1555418428
NM_000057.4(BLM):c.687A>C (p.Glu229Asp)
NM_000057.4(BLM):c.690G>T (p.Trp230Cys) rs1895633501
NM_000057.4(BLM):c.695G>A (p.Ser232Asn)
NM_000057.4(BLM):c.701A>G (p.Asp234Gly)
NM_000057.4(BLM):c.701A>T (p.Asp234Val) rs1895634297
NM_000057.4(BLM):c.702T>G (p.Asp234Glu) rs1271054585
NM_000057.4(BLM):c.703G>A (p.Val235Met) rs765696829
NM_000057.4(BLM):c.706A>C (p.Ile236Leu) rs2151148002
NM_000057.4(BLM):c.707T>C (p.Ile236Thr) rs1895634770
NM_000057.4(BLM):c.713T>C (p.Ile238Thr) rs1895635327
NM_000057.4(BLM):c.715G>C (p.Asp239His) rs200756519
NM_000057.4(BLM):c.716A>C (p.Asp239Ala)
NM_000057.4(BLM):c.716A>T (p.Asp239Val) rs751699247
NM_000057.4(BLM):c.719A>G (p.Asp240Gly) rs757324067
NM_000057.4(BLM):c.719A>T (p.Asp240Val) rs757324067
NM_000057.4(BLM):c.722G>C (p.Gly241Ala)
NM_000057.4(BLM):c.728T>C (p.Ile243Thr) rs200000438
NM_000057.4(BLM):c.731C>T (p.Ala244Val)
NM_000057.4(BLM):c.733G>A (p.Glu245Lys) rs772711706
NM_000057.4(BLM):c.734A>T (p.Glu245Val)
NM_000057.4(BLM):c.736G>C (p.Val246Leu) rs1895637254
NM_000057.4(BLM):c.739C>T (p.His247Tyr)
NM_000057.4(BLM):c.742A>G (p.Ile248Val) rs558524280
NM_000057.4(BLM):c.742A>T (p.Ile248Leu) rs558524280
NM_000057.4(BLM):c.743T>C (p.Ile248Thr)
NM_000057.4(BLM):c.745A>G (p.Asn249Asp)
NM_000057.4(BLM):c.74T>C (p.Leu25Ser) rs1895534883
NM_000057.4(BLM):c.752A>G (p.Asp251Gly) rs1555418456
NM_000057.4(BLM):c.752A>T (p.Asp251Val) rs1555418456
NM_000057.4(BLM):c.754G>A (p.Ala252Thr) rs1895638377
NM_000057.4(BLM):c.754G>C (p.Ala252Pro)
NM_000057.4(BLM):c.760G>C (p.Glu254Gln) rs181892828
NM_000057.4(BLM):c.764G>C (p.Ser255Thr)
NM_000057.4(BLM):c.768C>A (p.Asp256Glu)
NM_000057.4(BLM):c.772C>A (p.Leu258Met) rs1895639952
NM_000057.4(BLM):c.778A>T (p.Thr260Ser)
NM_000057.4(BLM):c.779C>A (p.Thr260Asn) rs2151148184
NM_000057.4(BLM):c.781C>T (p.His261Tyr) rs1895640326
NM_000057.4(BLM):c.782A>G (p.His261Arg) rs763166861
NM_000057.4(BLM):c.793G>C (p.Glu265Gln) rs751718191
NM_000057.4(BLM):c.794A>G (p.Glu265Gly) rs907073579
NM_000057.4(BLM):c.796A>G (p.Arg266Gly) rs1895641246
NM_000057.4(BLM):c.799+4A>C rs1895641639
NM_000057.4(BLM):c.799+4_799+5delinsCA rs1895641733
NM_000057.4(BLM):c.799+5C>A
NM_000057.4(BLM):c.79C>T (p.Leu27Phe)
NM_000057.4(BLM):c.7G>A (p.Ala3Thr) rs1895531822
NM_000057.4(BLM):c.800-13T>A
NM_000057.4(BLM):c.800-6C>A rs2151149470
NM_000057.4(BLM):c.806G>A (p.Ser269Asn) rs2151149490
NM_000057.4(BLM):c.809A>G (p.Glu270Gly) rs1895690744
NM_000057.4(BLM):c.811A>G (p.Lys271Glu) rs1895690937
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.813GAA[4] (p.Lys273dup) rs587779895
NM_000057.4(BLM):c.815A>G (p.Lys272Arg) rs2151149524
NM_000057.4(BLM):c.819G>T (p.Lys273Asn) rs2151149532
NM_000057.4(BLM):c.827A>G (p.Glu276Gly) rs2151149556
NM_000057.4(BLM):c.833C>T (p.Ala278Val) rs1895692100
NM_000057.4(BLM):c.841C>A (p.His281Asn)
NM_000057.4(BLM):c.841C>T (p.His281Tyr)
NM_000057.4(BLM):c.842A>G (p.His281Arg) rs202042636
NM_000057.4(BLM):c.843T>G (p.His281Gln) rs1567036601
NM_000057.4(BLM):c.848C>G (p.Thr283Ser) rs1567036612
NM_000057.4(BLM):c.853A>G (p.Lys285Glu)
NM_000057.4(BLM):c.856G>A (p.Val286Ile)
NM_000057.4(BLM):c.856G>T (p.Val286Phe) rs758301305
NM_000057.4(BLM):c.857T>C (p.Val286Ala)
NM_000057.4(BLM):c.859C>A (p.Pro287Thr) rs746748670
NM_000057.4(BLM):c.862T>A (p.Cys288Ser) rs2151149624
NM_000057.4(BLM):c.862T>G (p.Cys288Gly)
NM_000057.4(BLM):c.863G>C (p.Cys288Ser) rs1260150929
NM_000057.4(BLM):c.865A>G (p.Ile289Val) rs1895693953
NM_000057.4(BLM):c.86A>G (p.Lys29Arg) rs1895535585
NM_000057.4(BLM):c.874G>C (p.Asp292His)
NM_000057.4(BLM):c.874GAT[3] (p.Asp295del) rs1208432656
NM_000057.4(BLM):c.874GAT[5] (p.Asp295dup) rs1208432656
NM_000057.4(BLM):c.881A>G (p.Asp294Gly) rs1895694767
NM_000057.4(BLM):c.883G>A (p.Asp295Asn) rs146096923
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr) rs146096923
NM_000057.4(BLM):c.885T>A (p.Asp295Glu) rs2151149661
NM_000057.4(BLM):c.886T>C (p.Tyr296His) rs1596221177
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys) rs775005766
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe) rs775005766
NM_000057.4(BLM):c.889G>T (p.Asp297Tyr)
NM_000057.4(BLM):c.895G>A (p.Asp299Asn)
NM_000057.4(BLM):c.899T>C (p.Phe300Ser)
NM_000057.4(BLM):c.905C>T (p.Pro302Leu) rs1895696337
NM_000057.4(BLM):c.907C>T (p.Pro303Ser)
NM_000057.4(BLM):c.910T>G (p.Ser304Ala) rs2151149729
NM_000057.4(BLM):c.913C>T (p.Pro305Ser) rs1895696721
NM_000057.4(BLM):c.917A>G (p.Glu306Gly) rs2151149738
NM_000057.4(BLM):c.922A>G (p.Ile308Val) rs1596221274
NM_000057.4(BLM):c.925A>G (p.Ile309Val)
NM_000057.4(BLM):c.926T>C (p.Ile309Thr) rs1895697384
NM_000057.4(BLM):c.932C>T (p.Ala311Val)
NM_000057.4(BLM):c.933TTC[2] (p.Ser316del) rs564966225
NM_000057.4(BLM):c.934T>A (p.Ser312Thr) rs372454889
NM_000057.4(BLM):c.941C>T (p.Ser314Phe)
NM_000057.4(BLM):c.943T>G (p.Ser315Ala)
NM_000057.4(BLM):c.944C>T (p.Ser315Phe) rs1895698325
NM_000057.4(BLM):c.952T>C (p.Cys318Arg)
NM_000057.4(BLM):c.953G>A (p.Cys318Tyr)
NM_000057.4(BLM):c.954C>G (p.Cys318Trp) rs1596221322
NM_000057.4(BLM):c.955C>T (p.Leu319Phe) rs1567036793
NM_000057.4(BLM):c.959+2_959+3insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC
NM_000057.4(BLM):c.959G>C (p.Ser320Thr) rs757112333
NM_000057.4(BLM):c.962C>T (p.Thr321Met)
NM_000057.4(BLM):c.967A>C (p.Lys323Gln) rs2151152050
NM_000057.4(BLM):c.972C>A (p.Asp324Glu)
NM_000057.4(BLM):c.976G>A (p.Asp326Asn) rs1013220474
NM_000057.4(BLM):c.976G>T (p.Asp326Tyr)
NM_000057.4(BLM):c.978C>A (p.Asp326Glu)
NM_000057.4(BLM):c.98+2_98+3insCT
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000057.4(BLM):c.98+3_98+6del rs1555418015
NM_000057.4(BLM):c.980C>A (p.Thr327Asn) rs748581308
NM_000057.4(BLM):c.980C>G (p.Thr327Ser) rs748581308
NM_000057.4(BLM):c.980C>T (p.Thr327Ile)
NM_000057.4(BLM):c.982T>G (p.Ser328Ala) rs2151152087
NM_000057.4(BLM):c.983C>T (p.Ser328Phe) rs2151152099
NM_000057.4(BLM):c.985G>A (p.Asp329Asn) rs1895774818
NM_000057.4(BLM):c.985G>C (p.Asp329His) rs1895774818
NM_000057.4(BLM):c.988A>G (p.Arg330Gly)
NM_000057.4(BLM):c.99-9_99-7del rs1229333064
NM_000057.4(BLM):c.991A>G (p.Lys331Glu) rs1596223773
NM_000057.4(BLM):c.994G>C (p.Glu332Gln) rs1596223780
NM_000057.4(BLM):c.995A>T (p.Glu332Val) rs2151152146
NM_000057.4(BLM):c.997G>T (p.Asp333Tyr) rs1567037944
NM_000304.4(PMP22):c.*596G>T rs1205135654
NM_000304.4(PMP22):c.*63A>C rs1906244590
NM_000304.4(PMP22):c.*818T>C rs529200588
NM_000304.4(PMP22):c.*911C>T rs1015965333
NM_000304.4(PMP22):c.*961C>G rs760879114
NM_000304.4(PMP22):c.102C>A (p.His34Gln) rs779654897
NM_000304.4(PMP22):c.124T>C (p.Cys42Arg)
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro) rs1907131144
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn) rs189205303
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000304.4(PMP22):c.371G>A (p.Trp124Ter) rs1597597683
NM_000304.4(PMP22):c.372G>A (p.Trp124Ter) rs1597597678
NM_000304.4(PMP22):c.433dup (p.Leu145fs) rs1567698872
NM_000501.3(ELN):c.-70G>C rs537200597
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe) rs863223529
NM_000612.6(IGF2):c.199G>A (p.Val67Ile) rs1564894953
NM_000612.6(IGF2):c.27del (p.Met9fs) rs1858943428
NM_000746.6(CHRNA7):c.992C>T (p.Thr331Ile)
NM_001002295.2(GATA3):c.*264_*265dup rs3839918
NM_001002295.2(GATA3):c.*265dup rs3839918
NM_001002295.2(GATA3):c.*356G>A rs886047302
NM_001002295.2(GATA3):c.*588C>A rs1832985629
NM_001002295.2(GATA3):c.*592G>A rs1832985780
NM_001002295.2(GATA3):c.*598G>A rs187150410
NM_001002295.2(GATA3):c.*647A>G rs563624409
NM_001002295.2(GATA3):c.*714G>A rs886047303
NM_001002295.2(GATA3):c.*747G>A rs899862408
NM_001002295.2(GATA3):c.*863T>A rs1832990708
NM_001002295.2(GATA3):c.*895T>G rs886047305
NM_001002295.2(GATA3):c.-287G>A rs886047298
NM_001002295.2(GATA3):c.-370+28dup rs397846644
NM_001002295.2(GATA3):c.-413C>T rs540527013
NM_001002295.2(GATA3):c.-503_-502dup rs60098638
NM_001002295.2(GATA3):c.-80C>T rs569360560
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys) rs1564405163
NM_001002295.2(GATA3):c.1256C>T (p.Thr419Met)
NM_001002295.2(GATA3):c.1306C>G (p.Pro436Ala) rs1832975214
NM_001002295.2(GATA3):c.257G>A (p.Arg86His) rs1245137314
NM_001002295.2(GATA3):c.273T>A (p.His91Gln) rs2131488207
NM_001002295.2(GATA3):c.327C>T (p.Ala109=) rs1832681004
NM_001002295.2(GATA3):c.473C>T (p.Pro158Leu)
NM_001002295.2(GATA3):c.492C>T (p.Asp164=) rs1832688600
NM_001002295.2(GATA3):c.52G>A (p.Val18Met)
NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr) rs148835259
NM_001002295.2(GATA3):c.706C>T (p.Pro236Ser) rs148835259
NM_001002295.2(GATA3):c.708C>A (p.Pro236=) rs143582578
NM_001002295.2(GATA3):c.827G>T (p.Arg276Leu)
NM_001002295.2(GATA3):c.859G>A (p.Ala287Thr)
NM_001002295.2(GATA3):c.924+3_924+6del
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) rs1716385543
NM_001042424.3(NSD2):c.*1370dup rs886059325
NM_001042424.3(NSD2):c.*2012dup rs766138833
NM_001042424.3(NSD2):c.-29-6901dup rs886059308
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) rs2108958817
NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys) rs2108976523
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) rs2148661028
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)
NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)
NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)
NM_001134673.4(NFIA):c.467G>C (p.Cys156Ser)
NM_001134673.4(NFIA):c.504A>G (p.Ile168Met)
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser) rs2073605317
NM_001145358.2(SIN3A):c.1250C>T (p.Pro417Leu)
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg) rs768415150
NM_001145358.2(SIN3A):c.1430C>T (p.Ala477Val)
NM_001145358.2(SIN3A):c.2063C>T (p.Pro688Leu) rs2141438345
NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe) rs2073861256
NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter) rs1444395453
NM_001145358.2(SIN3A):c.2197G>C (p.Gly733Arg) rs1567338837
NM_001145358.2(SIN3A):c.2310T>C (p.Gly770=)
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg) rs2073227641
NM_001145358.2(SIN3A):c.2498A>T (p.Asp833Val)
NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu) rs2073219406
NM_001145358.2(SIN3A):c.2915G>T (p.Gly972Val)
NM_001145358.2(SIN3A):c.3200T>C (p.Met1067Thr)
NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys) rs760200525
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=) rs2141368447
NM_001145358.2(SIN3A):c.3620A>G (p.His1207Arg)
NM_001145358.2(SIN3A):c.3640G>A (p.Val1214Ile) rs750796375
NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)
NM_001145358.2(SIN3A):c.619C>G (p.Gln207Glu)
NM_001145358.2(SIN3A):c.776A>C (p.His259Pro) rs1180165033
NM_001145512.2(NFIA):c.104+5G>C rs992223479
NM_001172509.2(SATB2):c.1003A>G (p.Ile335Val)
NM_001172509.2(SATB2):c.1007A>G (p.Asn336Ser)
NM_001172509.2(SATB2):c.1075G>C (p.Glu359Gln)
NM_001172509.2(SATB2):c.1082C>T (p.Ser361Phe)
NM_001172509.2(SATB2):c.108G>C (p.Gln36His)
NM_001172509.2(SATB2):c.1118A>G (p.Lys373Arg)
NM_001172509.2(SATB2):c.1127G>T (p.Ser376Ile) rs1688727085
NM_001172509.2(SATB2):c.1247G>A (p.Arg416Lys) rs1341868380
NM_001172509.2(SATB2):c.1252A>G (p.Met418Val) rs1574510913
NM_001172509.2(SATB2):c.1276_1277inv (p.Glu426Ser)
NM_001172509.2(SATB2):c.1278A>C (p.Glu426Asp) rs775219160
NM_001172509.2(SATB2):c.1279G>T (p.Val427Leu) rs1306994967
NM_001172509.2(SATB2):c.1280T>C (p.Val427Ala) rs2105795391
NM_001172509.2(SATB2):c.1291C>T (p.Arg431Cys)
NM_001172509.2(SATB2):c.1321A>G (p.Met441Val)
NM_001172509.2(SATB2):c.1328C>T (p.Pro443Leu)
NM_001172509.2(SATB2):c.1349C>T (p.Ser450Leu)
NM_001172509.2(SATB2):c.1391A>G (p.Lys464Arg)
NM_001172509.2(SATB2):c.1396T>A (p.Ser466Thr) rs1402503767
NM_001172509.2(SATB2):c.140C>T (p.Pro47Leu) rs1692259118
NM_001172509.2(SATB2):c.1420A>G (p.Ile474Val) rs765116524
NM_001172509.2(SATB2):c.1426G>T (p.Val476Leu)
NM_001172509.2(SATB2):c.143A>C (p.Asn48Thr)
NM_001172509.2(SATB2):c.147C>T (p.Gly49=)
NM_001172509.2(SATB2):c.1481A>T (p.Glu494Val) rs1057524205
NM_001172509.2(SATB2):c.1486A>G (p.Lys496Glu)
NM_001172509.2(SATB2):c.14G>A (p.Ser5Asn)
NM_001172509.2(SATB2):c.1558C>G (p.Leu520Val)
NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)
NM_001172509.2(SATB2):c.1594C>T (p.Arg532Cys) rs2105769188
NM_001172509.2(SATB2):c.1595G>A (p.Arg532His) rs1574492405
NM_001172509.2(SATB2):c.15C>G (p.Ser5Arg)
NM_001172509.2(SATB2):c.1625G>A (p.Arg542His) rs2105769137
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
NM_001172509.2(SATB2):c.1634T>C (p.Leu545Pro)
NM_001172509.2(SATB2):c.1639C>T (p.Leu547Phe)
NM_001172509.2(SATB2):c.1642C>T (p.Pro548Ser)
NM_001172509.2(SATB2):c.164T>C (p.Val55Ala)
NM_001172509.2(SATB2):c.1681A>G (p.Arg561Gly)
NM_001172509.2(SATB2):c.1702A>T (p.Met568Leu)
NM_001172509.2(SATB2):c.1726C>A (p.Pro576Thr)
NM_001172509.2(SATB2):c.1726C>G (p.Pro576Ala)
NM_001172509.2(SATB2):c.1735G>T (p.Val579Leu)
NM_001172509.2(SATB2):c.1741G>A (p.Val581Ile)
NM_001172509.2(SATB2):c.1751G>A (p.Arg584Lys) rs2105707604
NM_001172509.2(SATB2):c.1754A>G (p.Gln585Arg) rs1692196085
NM_001172509.2(SATB2):c.1774G>A (p.Glu592Lys) rs2105707521
NM_001172509.2(SATB2):c.1795G>A (p.Glu599Lys)
NM_001172509.2(SATB2):c.1808C>T (p.Pro603Leu)
NM_001172509.2(SATB2):c.1843C>A (p.Pro615Thr)
NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys) rs2105707260
NM_001172509.2(SATB2):c.1865C>T (p.Ser622Phe)
NM_001172509.2(SATB2):c.1918C>T (p.Pro640Ser)
NM_001172509.2(SATB2):c.1940C>A (p.Thr647Asn)
NM_001172509.2(SATB2):c.2000G>T (p.Arg667Leu) rs1559136030
NM_001172509.2(SATB2):c.2015A>G (p.His672Arg)
NM_001172509.2(SATB2):c.2020G>A (p.Gly674Arg)
NM_001172509.2(SATB2):c.2024A>C (p.Lys675Thr)
NM_001172509.2(SATB2):c.2026C>A (p.Leu676Met)
NM_001172509.2(SATB2):c.202C>G (p.Gln68Glu)
NM_001172509.2(SATB2):c.2038C>G (p.Leu680Val)
NM_001172509.2(SATB2):c.2074G>A (p.Glu692Lys) rs1559135904
NM_001172509.2(SATB2):c.2089G>A (p.Glu697Lys)
NM_001172509.2(SATB2):c.2104G>A (p.Asp702Asn)
NM_001172509.2(SATB2):c.2119T>C (p.Ser707Pro)
NM_001172509.2(SATB2):c.2125G>A (p.Glu709Lys) rs1574458712
NM_001172509.2(SATB2):c.2126A>G (p.Glu709Gly) rs2105706602
NM_001172509.2(SATB2):c.2130G>C (p.Met710Ile) rs1286415699
NM_001172509.2(SATB2):c.214T>C (p.Ser72Pro)
NM_001172509.2(SATB2):c.2158G>A (p.Ala720Thr) rs531933724
NM_001172509.2(SATB2):c.215C>G (p.Ser72Cys)
NM_001172509.2(SATB2):c.2164A>C (p.Lys722Gln) rs2105706499
NM_001172509.2(SATB2):c.2167del (p.Ser723fs)
NM_001172509.2(SATB2):c.2174C>T (p.Ala725Val) rs767329844
NM_001172509.2(SATB2):c.2185G>A (p.Glu729Lys) rs1489038642
NM_001172509.2(SATB2):c.2189T>C (p.Ile730Thr) rs373319001
NM_001172509.2(SATB2):c.244G>T (p.Ala82Ser)
NM_001172509.2(SATB2):c.263G>A (p.Arg88Gln) rs530118484
NM_001172509.2(SATB2):c.266A>G (p.Lys89Arg)
NM_001172509.2(SATB2):c.332C>T (p.Ala111Val)
NM_001172509.2(SATB2):c.343C>G (p.Gln115Glu) rs1559052032
NM_001172509.2(SATB2):c.365G>C (p.Arg122Thr) rs1182083147
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.424A>G (p.Met142Val) rs751779659
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.452C>T (p.Thr151Met)
NM_001172509.2(SATB2):c.47G>C (p.Arg16Pro)
NM_001172509.2(SATB2):c.526C>T (p.Arg176Cys)
NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)
NM_001172509.2(SATB2):c.634G>T (p.Ala212Ser)
NM_001172509.2(SATB2):c.674G>A (p.Trp225Ter) rs1553493553
NM_001172509.2(SATB2):c.67G>C (p.Val23Leu)
NM_001172509.2(SATB2):c.67G>T (p.Val23Phe)
NM_001172509.2(SATB2):c.700+17G>A rs1689356095
NM_001172509.2(SATB2):c.700+5290A>G rs2105843329
NM_001172509.2(SATB2):c.700+6del rs1574554422
NM_001172509.2(SATB2):c.701-12A>T rs116585116
NM_001172509.2(SATB2):c.723C>A (p.Asn241Lys) rs752232729
NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)
NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser) rs2105823534
NM_001172509.2(SATB2):c.773T>C (p.Met258Thr)
NM_001172509.2(SATB2):c.779A>C (p.Gln260Pro)
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.806A>C (p.Glu269Ala)
NM_001172509.2(SATB2):c.829C>G (p.His277Asp)
NM_001172509.2(SATB2):c.841C>G (p.Pro281Ala) rs752392251
NM_001172509.2(SATB2):c.848G>A (p.Arg283Gln)
NM_001172509.2(SATB2):c.859C>T (p.Pro287Ser) rs768080548
NM_001172509.2(SATB2):c.874A>C (p.Ile292Leu)
NM_001172509.2(SATB2):c.879G>A (p.Met293Ile)
NM_001172509.2(SATB2):c.881G>A (p.Ser294Asn)
NM_001172509.2(SATB2):c.889C>T (p.Leu297Phe) rs759677622
NM_001172509.2(SATB2):c.88A>G (p.Lys30Glu) rs1574645369
NM_001172509.2(SATB2):c.8G>C (p.Arg3Pro)
NM_001172509.2(SATB2):c.911C>T (p.Pro304Leu) rs2105823252
NM_001172509.2(SATB2):c.917T>A (p.Leu306His) rs1688732391
NM_001172509.2(SATB2):c.927A>C (p.Gln309His)
NM_001172509.2(SATB2):c.967G>A (p.Val323Ile)
NM_001211.6(BUB1B):c.1003G>A (p.Ala335Thr) rs145184714
NM_001211.6(BUB1B):c.1004C>G (p.Ala335Gly) rs762332962
NM_001211.6(BUB1B):c.1030G>A (p.Val344Met)
NM_001211.6(BUB1B):c.1042G>A (p.Ala348Thr)
NM_001211.6(BUB1B):c.1042G>C (p.Ala348Pro) rs777810016
NM_001211.6(BUB1B):c.1052C>T (p.Pro351Leu) rs1453705308
NM_001211.6(BUB1B):c.1059-3T>C
NM_001211.6(BUB1B):c.1060A>G (p.Thr354Ala)
NM_001211.6(BUB1B):c.1069A>C (p.Lys357Gln) rs1264518438
NM_001211.6(BUB1B):c.106C>T (p.Arg36Trp)
NM_001211.6(BUB1B):c.1079C>G (p.Pro360Arg) rs1060499942
NM_001211.6(BUB1B):c.1088A>G (p.Asn363Ser)
NM_001211.6(BUB1B):c.1100G>A (p.Ser367Asn) rs1365938809
NM_001211.6(BUB1B):c.1127_1128delinsTT (p.Gly376Val) rs386783327
NM_001211.6(BUB1B):c.1139A>C (p.Gln380Pro) rs990478595
NM_001211.6(BUB1B):c.114G>C (p.Met38Ile) rs2140878505
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del) rs778590557
NM_001211.6(BUB1B):c.1184A>G (p.Lys395Arg) rs2037501965
NM_001211.6(BUB1B):c.1187T>C (p.Met396Thr) rs923688322
NM_001211.6(BUB1B):c.1189A>T (p.Met397Leu)
NM_001211.6(BUB1B):c.1203G>C (p.Glu401Asp) rs1595526383
NM_001211.6(BUB1B):c.1213G>T (p.Ala405Ser) rs1333792633
NM_001211.6(BUB1B):c.1228T>C (p.Phe410Leu) rs2140898509
NM_001211.6(BUB1B):c.1243A>G (p.Ile415Val) rs2140898521
NM_001211.6(BUB1B):c.1247G>T (p.Arg416Leu) rs763272400
NM_001211.6(BUB1B):c.1255G>T (p.Val419Phe) rs2037503291
NM_001211.6(BUB1B):c.1259T>C (p.Phe420Ser) rs2140898529
NM_001211.6(BUB1B):c.1265A>G (p.Lys422Arg)
NM_001211.6(BUB1B):c.1280A>G (p.Gln427Arg) rs2037503673
NM_001211.6(BUB1B):c.128G>A (p.Gly43Glu)
NM_001211.6(BUB1B):c.1310A>G (p.Glu437Gly)
NM_001211.6(BUB1B):c.1346T>C (p.Met449Thr)
NM_001211.6(BUB1B):c.1351A>G (p.Lys451Glu) rs1566824564
NM_001211.6(BUB1B):c.136G>A (p.Ala46Thr) rs750858057
NM_001211.6(BUB1B):c.1373C>G (p.Thr458Ser)
NM_001211.6(BUB1B):c.1375A>C (p.Thr459Pro)
NM_001211.6(BUB1B):c.1391C>T (p.Thr464Ile) rs1431082197
NM_001211.6(BUB1B):c.1393G>C (p.Gly465Arg) rs948366328
NM_001211.6(BUB1B):c.1397A>C (p.Asp466Ala) rs587778140
NM_001211.6(BUB1B):c.139C>A (p.Gln47Lys)
NM_001211.6(BUB1B):c.1400A>G (p.Gln467Arg)
NM_001211.6(BUB1B):c.140A>C (p.Gln47Pro)
NM_001211.6(BUB1B):c.1414A>C (p.Met472Leu) rs2037548728
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys) rs770704003
NM_001211.6(BUB1B):c.1454A>C (p.Glu485Ala) rs778632806
NM_001211.6(BUB1B):c.1492_1493delinsTA (p.Val498Tyr) rs2037550680
NM_001211.6(BUB1B):c.1508G>A (p.Cys503Tyr) rs765632100
NM_001211.6(BUB1B):c.1512T>G (p.Cys504Trp)
NM_001211.6(BUB1B):c.1517G>A (p.Arg506Lys) rs2140900695
NM_001211.6(BUB1B):c.1519G>A (p.Glu507Lys)
NM_001211.6(BUB1B):c.1538A>G (p.Asn513Ser)
NM_001211.6(BUB1B):c.1542T>G (p.Ile514Met)
NM_001211.6(BUB1B):c.1546C>G (p.Gln516Glu) rs1384516309
NM_001211.6(BUB1B):c.1568-15TC[2]
NM_001211.6(BUB1B):c.1568-3T>C rs1326404435
NM_001211.6(BUB1B):c.1568-8_1568-5del rs751787026
NM_001211.6(BUB1B):c.1568G>T (p.Gly523Val)
NM_001211.6(BUB1B):c.1590T>G (p.Ile530Met)
NM_001211.6(BUB1B):c.1602T>G (p.Phe534Leu)
NM_001211.6(BUB1B):c.1617GAA[1] (p.Lys540del) rs587778141
NM_001211.6(BUB1B):c.1624A>G (p.Lys542Glu) rs1446416934
NM_001211.6(BUB1B):c.1637C>T (p.Ala546Val)
NM_001211.6(BUB1B):c.1638A>G (p.Ala546=)
NM_001211.6(BUB1B):c.163C>G (p.Leu55Val) rs2037081264
NM_001211.6(BUB1B):c.164T>C (p.Leu55Pro) rs1221553263
NM_001211.6(BUB1B):c.1652T>G (p.Val551Gly) rs2037587414
NM_001211.6(BUB1B):c.1664G>C (p.Arg555Pro)
NM_001211.6(BUB1B):c.1670C>G (p.Pro557Arg) rs943659464
NM_001211.6(BUB1B):c.1678G>A (p.Val560Ile) rs1221831901
NM_001211.6(BUB1B):c.1682T>C (p.Leu561Pro)
NM_001211.6(BUB1B):c.1685A>G (p.Lys562Arg) rs1289685422
NM_001211.6(BUB1B):c.1688C>A (p.Thr563Asn)
NM_001211.6(BUB1B):c.1690T>A (p.Ser564Thr) rs2037588264
NM_001211.6(BUB1B):c.1693G>A (p.Glu565Lys)
NM_001211.6(BUB1B):c.1693G>C (p.Glu565Gln) rs893593630
NM_001211.6(BUB1B):c.171G>C (p.Gln57His)
NM_001211.6(BUB1B):c.172C>A (p.Gln58Lys) rs1308870659
NM_001211.6(BUB1B):c.1734T>G (p.Cys578Trp) rs2037589344
NM_001211.6(BUB1B):c.1757C>G (p.Pro586Arg)
NM_001211.6(BUB1B):c.1760T>G (p.Leu587Trp)
NM_001211.6(BUB1B):c.1763G>A (p.Ser588Asn)
NM_001211.6(BUB1B):c.1765G>A (p.Glu589Lys) rs1295030829
NM_001211.6(BUB1B):c.1774A>G (p.Ile592Val)
NM_001211.6(BUB1B):c.1783G>A (p.Gly595Ser)
NM_001211.6(BUB1B):c.178C>G (p.Arg60Gly) rs748915007
NM_001211.6(BUB1B):c.1792A>T (p.Asn598Tyr)
NM_001211.6(BUB1B):c.179G>A (p.Arg60Gln)
NM_001211.6(BUB1B):c.180-3C>G
NM_001211.6(BUB1B):c.1801A>G (p.Ile601Val) rs1425763171
NM_001211.6(BUB1B):c.1846C>T (p.Arg616Cys) rs1429608588
NM_001211.6(BUB1B):c.1847G>C (p.Arg616Pro) rs556193159
NM_001211.6(BUB1B):c.184T>C (p.Phe62Leu)
NM_001211.6(BUB1B):c.1873A>G (p.Ile625Val) rs1431396417
NM_001211.6(BUB1B):c.1877T>C (p.Met626Thr) rs1359983479
NM_001211.6(BUB1B):c.1879T>C (p.Ser627Pro) rs587778142
NM_001211.6(BUB1B):c.1897T>A (p.Ser633Thr) rs765505645
NM_001211.6(BUB1B):c.1910G>A (p.Arg637Lys) rs2140904085
NM_001211.6(BUB1B):c.1955A>G (p.Gln652Arg) rs1158333848
NM_001211.6(BUB1B):c.1982G>A (p.Ser661Asn) rs746933398
NM_001211.6(BUB1B):c.1982G>C (p.Ser661Thr) rs746933398
NM_001211.6(BUB1B):c.1983_1994del (p.Gln662_Ser665del)
NM_001211.6(BUB1B):c.1985A>G (p.Gln662Arg) rs2037638055
NM_001211.6(BUB1B):c.1988C>T (p.Thr663Ile) rs2037638096
NM_001211.6(BUB1B):c.19G>A (p.Glu7Lys) rs1218056057
NM_001211.6(BUB1B):c.2029C>T (p.Arg677Cys)
NM_001211.6(BUB1B):c.2042A>C (p.His681Pro) rs761234125
NM_001211.6(BUB1B):c.2045C>T (p.Ser682Phe)
NM_001211.6(BUB1B):c.2062T>A (p.Ser688Thr) rs2037668271
NM_001211.6(BUB1B):c.2099G>A (p.Cys700Tyr)
NM_001211.6(BUB1B):c.209C>T (p.Thr70Ile) rs769980774
NM_001211.6(BUB1B):c.2111C>T (p.Pro704Leu) rs1225413973
NM_001211.6(BUB1B):c.211G>A (p.Gly71Arg) rs2037144496
NM_001211.6(BUB1B):c.2122G>C (p.Glu708Gln)
NM_001211.6(BUB1B):c.2123A>G (p.Glu708Gly)
NM_001211.6(BUB1B):c.2137A>C (p.Thr713Pro) rs2140905623
NM_001211.6(BUB1B):c.2140T>G (p.Ser714Ala)
NM_001211.6(BUB1B):c.2142A>G (p.Ser714=) rs778939108
NM_001211.6(BUB1B):c.2143+15_2143+16delinsTT
NM_001211.6(BUB1B):c.2143+4G>C
NM_001211.6(BUB1B):c.2143G>A (p.Glu715Lys) rs2037670357
NM_001211.6(BUB1B):c.2144-2dup
NM_001211.6(BUB1B):c.2144-4_2144-3del
NM_001211.6(BUB1B):c.2144-5G>A rs2037684260
NM_001211.6(BUB1B):c.2156A>T (p.Gln719Leu)
NM_001211.6(BUB1B):c.2174A>C (p.Gln725Pro) rs2140906180
NM_001211.6(BUB1B):c.2175G>A (p.Gln725=)
NM_001211.6(BUB1B):c.2179C>T (p.Arg727Cys) rs577591919
NM_001211.6(BUB1B):c.218A>G (p.Asp73Gly) rs2140881461
NM_001211.6(BUB1B):c.2192T>G (p.Leu731Arg)
NM_001211.6(BUB1B):c.21A>C (p.Glu7Asp) rs1819687564
NM_001211.6(BUB1B):c.2231G>A (p.Cys744Tyr)
NM_001211.6(BUB1B):c.2264T>C (p.Ile755Thr)
NM_001211.6(BUB1B):c.2275A>G (p.Ile759Val)
NM_001211.6(BUB1B):c.2285-3C>A rs2037692138
NM_001211.6(BUB1B):c.2285-3C>T rs2037692138
NM_001211.6(BUB1B):c.2285-4A>G rs1555383523
NM_001211.6(BUB1B):c.2294A>G (p.Asp765Gly) rs765119108
NM_001211.6(BUB1B):c.2299T>C (p.Cys767Arg) rs1429881927
NM_001211.6(BUB1B):c.22G>T (p.Gly8Trp)
NM_001211.6(BUB1B):c.2323T>C (p.Cys775Arg) rs1025942169
NM_001211.6(BUB1B):c.2328A>C (p.Glu776Asp) rs2140906494
NM_001211.6(BUB1B):c.2347G>A (p.Val783Met) rs1338798216
NM_001211.6(BUB1B):c.2385+6A>C rs1432486988
NM_001211.6(BUB1B):c.2385G>A (p.Lys795=)
NM_001211.6(BUB1B):c.2385G>C (p.Lys795Asn) rs1427050449
NM_001211.6(BUB1B):c.23G>C (p.Gly8Ala) rs554782320
NM_001211.6(BUB1B):c.2402T>C (p.Val801Ala)
NM_001211.6(BUB1B):c.2405C>T (p.Pro802Leu) rs878854277
NM_001211.6(BUB1B):c.240G>C (p.Arg80Ser)
NM_001211.6(BUB1B):c.2414T>C (p.Phe805Ser) rs1060499948
NM_001211.6(BUB1B):c.2415T>G (p.Phe805Leu)
NM_001211.6(BUB1B):c.2419A>G (p.Ile807Val)
NM_001211.6(BUB1B):c.2425C>G (p.Leu809Val)
NM_001211.6(BUB1B):c.2430G>C (p.Lys810Asn)
NM_001211.6(BUB1B):c.2432T>C (p.Leu811Ser) rs975163412
NM_001211.6(BUB1B):c.2437G>C (p.Glu813Gln)
NM_001211.6(BUB1B):c.2440C>G (p.Arg814Gly) rs769288048
NM_001211.6(BUB1B):c.2447A>G (p.Asn816Ser)
NM_001211.6(BUB1B):c.2447A>T (p.Asn816Ile)
NM_001211.6(BUB1B):c.244A>G (p.Ile82Val) rs2140881732
NM_001211.6(BUB1B):c.2450A>G (p.Glu817Gly) rs772750245
NM_001211.6(BUB1B):c.2463T>A (p.His821Gln)
NM_001211.6(BUB1B):c.247A>C (p.Ser83Arg) rs147832586
NM_001211.6(BUB1B):c.2509C>A (p.Gln837Lys) rs2140907776
NM_001211.6(BUB1B):c.2511A>T (p.Gln837His)
NM_001211.6(BUB1B):c.2513A>G (p.Tyr838Cys) rs753916523
NM_001211.6(BUB1B):c.2528C>T (p.Thr843Ile)
NM_001211.6(BUB1B):c.2534A>G (p.Gln845Arg) rs758774329
NM_001211.6(BUB1B):c.2536-8A>G rs750936919
NM_001211.6(BUB1B):c.2549A>G (p.His850Arg)
NM_001211.6(BUB1B):c.2563A>G (p.Thr855Ala)
NM_001211.6(BUB1B):c.256G>A (p.Glu86Lys) rs2037149727
NM_001211.6(BUB1B):c.2582T>G (p.Leu861Trp) rs1566828619
NM_001211.6(BUB1B):c.2605A>G (p.Ile869Val) rs1595535434
NM_001211.6(BUB1B):c.2612A>T (p.Glu871Val)
NM_001211.6(BUB1B):c.2626G>A (p.Ala876Thr)
NM_001211.6(BUB1B):c.2648T>C (p.Leu883Ser) rs2140908215
NM_001211.6(BUB1B):c.2652T>A (p.Ser884Arg)
NM_001211.6(BUB1B):c.2656A>G (p.Arg886Gly) rs1342870693
NM_001211.6(BUB1B):c.2658G>T (p.Arg886Ser) rs146821149
NM_001211.6(BUB1B):c.2669T>G (p.Leu890Arg)
NM_001211.6(BUB1B):c.2678+15T>G rs1363805902
NM_001211.6(BUB1B):c.2679A>G (p.Arg893=) rs2140911352
NM_001211.6(BUB1B):c.2681T>A (p.Ile894Asn)
NM_001211.6(BUB1B):c.26G>A (p.Gly9Asp)
NM_001211.6(BUB1B):c.26G>C (p.Gly9Ala) rs768279736
NM_001211.6(BUB1B):c.26G>T (p.Gly9Val) rs768279736
NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn)
NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser)
NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu) rs747000103
NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala)
NM_001211.6(BUB1B):c.273A>T (p.Gln91His) rs751056896
NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg) rs2037812878
NM_001211.6(BUB1B):c.2752C>T (p.Leu918Phe) rs145639700
NM_001211.6(BUB1B):c.275G>C (p.Gly92Ala) rs1595511034
NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp) rs766052877
NM_001211.6(BUB1B):c.2792G>C (p.Arg931Pro) rs751509832
NM_001211.6(BUB1B):c.2804T>C (p.Ile935Thr)
NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro) rs964545269
NM_001211.6(BUB1B):c.2816A>C (p.Gln939Pro)
NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn)
NM_001211.6(BUB1B):c.2820G>T (p.Lys940Asn)
NM_001211.6(BUB1B):c.2827G>A (p.Ala943Thr)
NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly)
NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val)
NM_001211.6(BUB1B):c.2834G>A (p.Cys945Tyr) rs974385539
NM_001211.6(BUB1B):c.2851-5T>C
NM_001211.6(BUB1B):c.2854G>C (p.Asp952His) rs2140912289
NM_001211.6(BUB1B):c.286A>G (p.Ser96Gly) rs998599773
NM_001211.6(BUB1B):c.2870C>G (p.Ala957Gly)
NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser)
NM_001211.6(BUB1B):c.2897A>G (p.Lys966Arg) rs2037833828
NM_001211.6(BUB1B):c.289A>G (p.Asn97Asp)
NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp) rs762290287
NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr)
NM_001211.6(BUB1B):c.2904C>A (p.His968Gln) rs1284860869
NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala)
NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter) rs1191638586
NM_001211.6(BUB1B):c.293T>A (p.Met98Lys) rs1446063325
NM_001211.6(BUB1B):c.2957+1G>A rs1595540180
NM_001211.6(BUB1B):c.2957+5G>A
NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu) rs2140914660
NM_001211.6(BUB1B):c.299C>T (p.Thr100Met)
NM_001211.6(BUB1B):c.29C>T (p.Ala10Val)
NM_001211.6(BUB1B):c.2dup (p.Met1fs) rs2037039121
NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His)
NM_001211.6(BUB1B):c.3015T>G (p.Asp1005Glu)
NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys)
NM_001211.6(BUB1B):c.3055A>G (p.Met1019Val) rs1566831785
NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala)
NM_001211.6(BUB1B):c.3067T>G (p.Phe1023Val) rs1566831798
NM_001211.6(BUB1B):c.3074C>A (p.Thr1025Asn) rs770219125
NM_001211.6(BUB1B):c.3084A>G (p.Gln1028=) rs1566831810
NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe) rs576684184
NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu)
NM_001211.6(BUB1B):c.310A>G (p.Arg104Gly) rs2037150605
NM_001211.6(BUB1B):c.3124A>G (p.Thr1042Ala) rs761776038
NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg) rs2140914939
NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg)
NM_001211.6(BUB1B):c.32T>G (p.Leu11Arg)
NM_001211.6(BUB1B):c.339A>C (p.Lys113Asn)
NM_001211.6(BUB1B):c.35+4G>A rs769117219
NM_001211.6(BUB1B):c.35+4G>T
NM_001211.6(BUB1B):c.375G>C (p.Trp125Cys)
NM_001211.6(BUB1B):c.384+6T>A rs2140881867
NM_001211.6(BUB1B):c.384+6T>C
NM_001211.6(BUB1B):c.385-10T>G rs2037224613
NM_001211.6(BUB1B):c.391T>G (p.Leu131Val) rs946027171
NM_001211.6(BUB1B):c.408G>A (p.Leu136=)
NM_001211.6(BUB1B):c.414G>A (p.Met138Ile)
NM_001211.6(BUB1B):c.418A>C (p.Ser140Arg) rs2037225300
NM_001211.6(BUB1B):c.451C>G (p.Leu151Val) rs2140885458
NM_001211.6(BUB1B):c.451C>T (p.Leu151Phe) rs2140885458
NM_001211.6(BUB1B):c.458A>G (p.Gln153Arg) rs776363221
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu) rs776363221
NM_001211.6(BUB1B):c.45G>C (p.Met15Ile)
NM_001211.6(BUB1B):c.466A>G (p.Ile156Val) rs546538543
NM_001211.6(BUB1B):c.470C>T (p.Ser157Leu) rs2140885475
NM_001211.6(BUB1B):c.47C>T (p.Ser16Phe) rs1364339094
NM_001211.6(BUB1B):c.483A>T (p.Glu161Asp) rs758667204
NM_001211.6(BUB1B):c.485A>G (p.Tyr162Cys) rs1555381180
NM_001211.6(BUB1B):c.505A>G (p.Arg169Gly) rs2037226561
NM_001211.6(BUB1B):c.508A>G (p.Lys170Glu) rs532319590
NM_001211.6(BUB1B):c.511G>C (p.Ala171Pro) rs2037226711
NM_001211.6(BUB1B):c.518C>T (p.Ala173Val) rs552380700
NM_001211.6(BUB1B):c.545_546delinsCA (p.Lys182Thr)
NM_001211.6(BUB1B):c.547G>A (p.Ala183Thr) rs1442788795
NM_001211.6(BUB1B):c.547G>C (p.Ala183Pro) rs1442788795
NM_001211.6(BUB1B):c.54G>C (p.Glu18Asp) rs777141944
NM_001211.6(BUB1B):c.550G>A (p.Glu184Lys) rs145028054
NM_001211.6(BUB1B):c.582-3T>C rs2037323557
NM_001211.6(BUB1B):c.583C>G (p.Gln195Glu)
NM_001211.6(BUB1B):c.596G>C (p.Arg199Pro) rs779260067
NM_001211.6(BUB1B):c.596G>T (p.Arg199Leu)
NM_001211.6(BUB1B):c.630AGA[2] (p.Glu215del) rs751339245
NM_001211.6(BUB1B):c.631G>C (p.Glu211Gln) rs1566819827
NM_001211.6(BUB1B):c.636A>C (p.Glu212Asp) rs769213287
NM_001211.6(BUB1B):c.639GGA[1] (p.Glu215del)
NM_001211.6(BUB1B):c.647T>G (p.Val216Gly) rs1203645365
NM_001211.6(BUB1B):c.650T>A (p.Phe217Tyr) rs2140889790
NM_001211.6(BUB1B):c.665_667del (p.Pro222del) rs767511302
NM_001211.6(BUB1B):c.698A>G (p.Lys233Arg) rs960109358
NM_001211.6(BUB1B):c.699A>C (p.Lys233Asn) rs2140889861
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu) rs1407334063
NM_001211.6(BUB1B):c.74G>A (p.Ser25Asn)
NM_001211.6(BUB1B):c.750G>A (p.Lys250=) rs1440328650
NM_001211.6(BUB1B):c.750G>C (p.Lys250Asn) rs1440328650
NM_001211.6(BUB1B):c.797T>G (p.Met266Arg) rs745796231
NM_001211.6(BUB1B):c.812G>A (p.Arg271Lys)
NM_001211.6(BUB1B):c.820G>A (p.Val274Ile) rs2037344658
NM_001211.6(BUB1B):c.838G>C (p.Asp280His) rs2037344931
NM_001211.6(BUB1B):c.839A>T (p.Asp280Val) rs2037344963
NM_001211.6(BUB1B):c.850A>G (p.Thr284Ala) rs1369362790
NM_001211.6(BUB1B):c.854C>A (p.Ala285Glu)
NM_001211.6(BUB1B):c.857A>G (p.Glu286Gly) rs2037345499
NM_001211.6(BUB1B):c.862T>C (p.Ser288Pro) rs763386438
NM_001211.6(BUB1B):c.868C>A (p.Pro290Thr) rs1411048840
NM_001211.6(BUB1B):c.874G>A (p.Val292Ile) rs760345452
NM_001211.6(BUB1B):c.878A>G (p.Gln293Arg)
NM_001211.6(BUB1B):c.889G>A (p.Ala297Thr) rs2140890789
NM_001211.6(BUB1B):c.911A>G (p.Lys304Arg) rs2140890830
NM_001211.6(BUB1B):c.917A>G (p.Asn306Ser) rs2140890832
NM_001211.6(BUB1B):c.932G>T (p.Gly311Val)
NM_001211.6(BUB1B):c.950G>A (p.Arg317Lys) rs2140890864
NM_001211.6(BUB1B):c.966G>A (p.Arg322=) rs2037347512
NM_001211.6(BUB1B):c.967-3C>T
NM_001211.6(BUB1B):c.970C>G (p.Arg324Gly)
NM_001211.6(BUB1B):c.970C>T (p.Arg324Cys)
NM_001211.6(BUB1B):c.980C>A (p.Thr327Lys)
NM_001211.6(BUB1B):c.982G>A (p.Ala328Thr) rs2037350544
NM_001211.6(BUB1B):c.992T>C (p.Ile331Thr)
NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val) rs2091621117
NM_001256447.2(BCAP31):c.477+8del
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu) rs782648908
NM_001256447.2(BCAP31):c.709G>C (p.Val237Leu)
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) rs1156747096
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg) rs2104921155
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) rs199697191
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro) rs1167005463
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001372044.2(SHANK3):c.1012G>A (p.Val338Met)
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys) rs1555905749
NM_001372044.2(SHANK3):c.1124G>T (p.Arg375Leu) rs2124372210
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val) rs2124372229
NM_001372044.2(SHANK3):c.1235C>G rs869312715
NM_001372044.2(SHANK3):c.1530-280dup rs745950788
NM_001372044.2(SHANK3):c.155G>A (p.Gly52Glu)
NM_001372044.2(SHANK3):c.1878C>A (p.Tyr626Ter) rs2083140779
NM_001372044.2(SHANK3):c.2228C>G (p.Pro743Arg)
NM_001372044.2(SHANK3):c.2300+4_2300+12del
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=) rs1447758824
NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro) rs2083272071
NM_001372044.2(SHANK3):c.2881C>T (p.Gln961Ter) rs2083274586
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu) rs2083276245
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001372044.2(SHANK3):c.319G>T (p.Val107Leu) rs2082908926
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr) rs1555910078
NM_001372044.2(SHANK3):c.3597C>G (p.Pro1199=)
NM_001372044.2(SHANK3):c.3689C>G (p.Ser1230Cys)
NM_001372044.2(SHANK3):c.3989G>A (p.Arg1330Gln)
NM_001372044.2(SHANK3):c.4052A>C (p.Glu1351Ala)
NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del) rs1462066038
NM_001372044.2(SHANK3):c.4150C>T (p.Pro1384Ser) rs1482351235
NM_001372044.2(SHANK3):c.415G>A (p.Ala139Thr) rs2082909895
NM_001372044.2(SHANK3):c.4477C>T (p.Leu1493Phe)
NM_001372044.2(SHANK3):c.4613dup (p.Arg1539fs)
NM_001372044.2(SHANK3):c.4730A>G (p.Gln1577Arg)
NM_001372044.2(SHANK3):c.4889C>T (p.Pro1630Leu) rs1329146990
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
NM_001372044.2(SHANK3):c.5057C>G (p.Ser1686Trp) rs2083359701
NM_001372044.2(SHANK3):c.5307_5310del (p.Ile1769fs) rs2083362101
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro) rs1555905307
NM_001372044.2(SHANK3):c.575A>G (p.Lys192Arg)
NM_001372044.2(SHANK3):c.592G>A (p.Val198Ile)
NM_001372044.2(SHANK3):c.623G>A (p.Arg208His)
NM_001372044.2(SHANK3):c.781G>A (p.Ala261Thr)
NM_001372044.2(SHANK3):c.800G>A (p.Arg267His)
NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
NM_001372044.2(SHANK3):c.974G>T (p.Gly325Val)
NM_001378120.1(MBD5):c.1010C>A (p.Pro337His)
NM_001378120.1(MBD5):c.1016C>A (p.Pro339His)
NM_001378120.1(MBD5):c.1016C>T (p.Pro339Leu) rs748307129
NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del) rs1388983985
NM_001378120.1(MBD5):c.1025C>A (p.Pro342His) rs1406381561
NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe) rs1201462027
NM_001378120.1(MBD5):c.1042A>G (p.Lys348Glu)
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys) rs1448983984
NM_001378120.1(MBD5):c.1081C>T (p.Leu361Phe) rs2105629006
NM_001378120.1(MBD5):c.1084G>A (p.Asp362Asn) rs1335443686
NM_001378120.1(MBD5):c.1084G>C (p.Asp362His) rs1335443686
NM_001378120.1(MBD5):c.1093C>G (p.Pro365Ala)
NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu) rs794727974
NM_001378120.1(MBD5):c.1100A>G (p.Lys367Arg)
NM_001378120.1(MBD5):c.1101A>C (p.Lys367Asn)
NM_001378120.1(MBD5):c.1109A>G (p.Asn370Ser)
NM_001378120.1(MBD5):c.1115A>G (p.Asn372Ser)
NM_001378120.1(MBD5):c.113+5G>A
NM_001378120.1(MBD5):c.1138A>G (p.Ser380Gly) rs1680696075
NM_001378120.1(MBD5):c.1150A>G (p.Asn384Asp)
NM_001378120.1(MBD5):c.1151A>G (p.Asn384Ser)
NM_001378120.1(MBD5):c.1163A>G (p.Gln388Arg)
NM_001378120.1(MBD5):c.1168C>T (p.Pro390Ser)
NM_001378120.1(MBD5):c.1205C>T (p.Pro402Leu)
NM_001378120.1(MBD5):c.1213A>G (p.Ser405Gly) rs1311216238
NM_001378120.1(MBD5):c.1223C>T (p.Pro408Leu)
NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)
NM_001378120.1(MBD5):c.1240C>A (p.Pro414Thr)
NM_001378120.1(MBD5):c.1249_1263del (p.Met417_Ser421del) rs1559086500
NM_001378120.1(MBD5):c.1250T>C (p.Met417Thr) rs1574460069
NM_001378120.1(MBD5):c.1251G>A (p.Met417Ile)
NM_001378120.1(MBD5):c.1251G>C (p.Met417Ile) rs1559086508
NM_001378120.1(MBD5):c.1255C>T (p.His419Tyr)
NM_001378120.1(MBD5):c.1256A>G (p.His419Arg) rs1680702734
NM_001378120.1(MBD5):c.1258G>A (p.Gly420Arg) rs1352167434
NM_001378120.1(MBD5):c.1262G>A (p.Ser421Asn) rs2105631080
NM_001378120.1(MBD5):c.1271A>T (p.Gln424Leu) rs2105631231
NM_001378120.1(MBD5):c.1288G>T (p.Ala430Ser) rs2105631326
NM_001378120.1(MBD5):c.1294A>G (p.Thr432Ala)
NM_001378120.1(MBD5):c.1297T>A (p.Ser433Thr) rs2105631414
NM_001378120.1(MBD5):c.1318A>G (p.Thr440Ala)
NM_001378120.1(MBD5):c.1319C>G (p.Thr440Arg) rs1247282095
NM_001378120.1(MBD5):c.1321T>C (p.Ser441Pro)
NM_001378120.1(MBD5):c.1327G>T (p.Val443Leu) rs137977565
NM_001378120.1(MBD5):c.1336A>G (p.Met446Val)
NM_001378120.1(MBD5):c.133T>A (p.Ser45Thr)
NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr) rs2105632032
NM_001378120.1(MBD5):c.1369C>T (p.Pro457Ser)
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg) rs139186486
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) rs878910680
NM_001378120.1(MBD5):c.1381C>T (p.Arg461Cys) rs796052709
NM_001378120.1(MBD5):c.138C>T (p.Cys46=)
NM_001378120.1(MBD5):c.1408G>A (p.Gly470Arg)
NM_001378120.1(MBD5):c.1417A>G (p.Met473Val) rs1064796951
NM_001378120.1(MBD5):c.1417ATG[1] (p.Met474del) rs1680710056
NM_001378120.1(MBD5):c.1433G>A (p.Gly478Glu)
NM_001378120.1(MBD5):c.1441G>C (p.Ala481Pro)
NM_001378120.1(MBD5):c.1453G>A (p.Gly485Ser)
NM_001378120.1(MBD5):c.1457T>A (p.Ile486Asn) rs1680712001
NM_001378120.1(MBD5):c.1462G>A (p.Val488Ile) rs778427674
NM_001378120.1(MBD5):c.1468C>T (p.Pro490Ser)
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.1475C>T (p.Ser492Leu)
NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr)
NM_001378120.1(MBD5):c.1520G>A (p.Ser507Asn)
NM_001378120.1(MBD5):c.1528A>G (p.Thr510Ala) rs762417251
NM_001378120.1(MBD5):c.1544A>G (p.His515Arg)
NM_001378120.1(MBD5):c.1551G>C (p.Gln517His)
NM_001378120.1(MBD5):c.1560T>G (p.Asp520Glu) rs113472052
NM_001378120.1(MBD5):c.1570C>T (p.Pro524Ser) rs727503998
NM_001378120.1(MBD5):c.1583G>A (p.Gly528Glu) rs1300246516
NM_001378120.1(MBD5):c.1588A>C (p.Ser530Arg)
NM_001378120.1(MBD5):c.1603A>G (p.Thr535Ala)
NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)
NM_001378120.1(MBD5):c.1627A>C (p.Thr543Pro) rs1414607857
NM_001378120.1(MBD5):c.1634C>G (p.Ser545Cys) rs1553518618
NM_001378120.1(MBD5):c.1637C>A (p.Ala546Asp)
NM_001378120.1(MBD5):c.1646G>A (p.Ser549Asn) rs2105635382
NM_001378120.1(MBD5):c.1667G>A (p.Gly556Asp) rs750365107
NM_001378120.1(MBD5):c.1669T>A (p.Leu557Met) rs2105635656
NM_001378120.1(MBD5):c.1671G>C (p.Leu557Phe)
NM_001378120.1(MBD5):c.1676G>A (p.Gly559Glu)
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile) rs1574460777
NM_001378120.1(MBD5):c.1695C>G (p.Ile565Met)
NM_001378120.1(MBD5):c.1697T>G (p.Leu566Trp)
NM_001378120.1(MBD5):c.1698G>C (p.Leu566Phe)
NM_001378120.1(MBD5):c.16G>C (p.Glu6Gln)
NM_001378120.1(MBD5):c.1702C>G (p.Gln568Glu)
NM_001378120.1(MBD5):c.1706A>G (p.His569Arg)
NM_001378120.1(MBD5):c.1718C>T (p.Ser573Phe) rs540723139
NM_001378120.1(MBD5):c.1729A>G (p.Ser577Gly)
NM_001378120.1(MBD5):c.1732A>G (p.Ser578Gly)
NM_001378120.1(MBD5):c.1772A>G (p.Gln591Arg)
NM_001378120.1(MBD5):c.1783G>T (p.Ala595Ser) rs1302791673
NM_001378120.1(MBD5):c.1811A>G (p.Asn604Ser)
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.1842_1865del (p.Glu615_Thr622del) rs780715275
NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser)
NM_001378120.1(MBD5):c.1862A>T (p.Asn621Ile)
NM_001378120.1(MBD5):c.1867A>G (p.Met623Val)
NM_001378120.1(MBD5):c.1868T>C (p.Met623Thr) rs1036713038
NM_001378120.1(MBD5):c.1869G>A (p.Met623Ile) rs1680731400
NM_001378120.1(MBD5):c.1877C>T (p.Pro626Leu)
NM_001378120.1(MBD5):c.1879A>G (p.Thr627Ala) rs779256872
NM_001378120.1(MBD5):c.1890G>T (p.Met630Ile) rs1475773218
NM_001378120.1(MBD5):c.1892T>C (p.Leu631Pro)
NM_001378120.1(MBD5):c.1910G>A (p.Gly637Glu)
NM_001378120.1(MBD5):c.1927G>T (p.Ala643Ser)
NM_001378120.1(MBD5):c.1961A>G (p.Asp654Gly)
NM_001378120.1(MBD5):c.1962C>A (p.Asp654Glu) rs139953766
NM_001378120.1(MBD5):c.1963G>T (p.Ala655Ser)
NM_001378120.1(MBD5):c.1969C>G (p.Arg657Gly) rs112334672
NM_001378120.1(MBD5):c.1975A>G (p.Arg659Gly)
NM_001378120.1(MBD5):c.1985C>A (p.Pro662Gln) rs1280684603
NM_001378120.1(MBD5):c.1987C>A (p.Pro663Thr)
NM_001378120.1(MBD5):c.1987C>T (p.Pro663Ser) rs1057520996
NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met) rs755862882
NM_001378120.1(MBD5):c.1999T>A (p.Leu667Met) rs529715710
NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg) rs766104877
NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn)
NM_001378120.1(MBD5):c.2015A>G (p.Gln672Arg)
NM_001378120.1(MBD5):c.2025G>C (p.Met675Ile)
NM_001378120.1(MBD5):c.2038G>A (p.Val680Ile)
NM_001378120.1(MBD5):c.2038G>T (p.Val680Phe)
NM_001378120.1(MBD5):c.2045A>G (p.Lys682Arg)
NM_001378120.1(MBD5):c.2051G>A (p.Gly684Glu) rs1680739908
NM_001378120.1(MBD5):c.2060T>G (p.Leu687Trp)
NM_001378120.1(MBD5):c.2081G>A (p.Gly694Asp)
NM_001378120.1(MBD5):c.2086T>C (p.Phe696Leu)
NM_001378120.1(MBD5):c.2087T>G (p.Phe696Cys)
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378120.1(MBD5):c.2119T>G (p.Ser707Ala) rs1394309796
NM_001378120.1(MBD5):c.2120C>T (p.Ser707Phe) rs2105639837
NM_001378120.1(MBD5):c.2122A>T (p.Met708Leu) rs796052721
NM_001378120.1(MBD5):c.2124_2125delinsTT (p.Met708_Ser709delinsIleCys)
NM_001378120.1(MBD5):c.2126G>A (p.Ser709Asn)
NM_001378120.1(MBD5):c.2127T>G (p.Ser709Arg) rs763873615
NM_001378120.1(MBD5):c.2147G>A (p.Ser716Asn)
NM_001378120.1(MBD5):c.2153A>G (p.Asn718Ser)
NM_001378120.1(MBD5):c.2164G>C (p.Gly722Arg)
NM_001378120.1(MBD5):c.2164G>T (p.Gly722Cys) rs143584574
NM_001378120.1(MBD5):c.2168G>T (p.Cys723Phe)
NM_001378120.1(MBD5):c.2177C>T (p.Ser726Leu) rs781532539
NM_001378120.1(MBD5):c.2200G>A (p.Ala734Thr)
NM_001378120.1(MBD5):c.2234A>G (p.Asn745Ser)
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys) rs2105641052
NM_001378120.1(MBD5):c.224A>G (p.Asn75Ser) rs2105581271
NM_001378120.1(MBD5):c.2252A>G (p.Asn751Ser)
NM_001378120.1(MBD5):c.2278C>T (p.His760Tyr) rs1060501150
NM_001378120.1(MBD5):c.2296A>G (p.Thr766Ala)
NM_001378120.1(MBD5):c.2297C>G (p.Thr766Ser)
NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)
NM_001378120.1(MBD5):c.2350A>G (p.Ile784Val)
NM_001378120.1(MBD5):c.2358G>T (p.Gln786His) rs1574462092
NM_001378120.1(MBD5):c.2359A>T (p.Ile787Phe)
NM_001378120.1(MBD5):c.236G>T (p.Gly79Val)
NM_001378120.1(MBD5):c.2380G>A (p.Gly794Arg) rs2105642407
NM_001378120.1(MBD5):c.2381G>T (p.Gly794Val)
NM_001378120.1(MBD5):c.2390G>T (p.Ser797Ile) rs1187810931
NM_001378120.1(MBD5):c.2393A>G (p.Gln798Arg) rs1680753685
NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)
NM_001378120.1(MBD5):c.2426C>G (p.Pro809Arg) rs1060501152
NM_001378120.1(MBD5):c.244G>T (p.Val82Leu)
NM_001378120.1(MBD5):c.2453C>G (p.Thr818Arg) rs1413186409
NM_001378120.1(MBD5):c.2453C>T (p.Thr818Met)
NM_001378120.1(MBD5):c.2462C>T (p.Thr821Ile)
NM_001378120.1(MBD5):c.2465C>T (p.Pro822Leu) rs2105643339
NM_001378120.1(MBD5):c.2472A>G (p.Ile824Met) rs1574462288
NM_001378120.1(MBD5):c.247A>G (p.Lys83Glu) rs1559083055
NM_001378120.1(MBD5):c.2482A>C (p.Ile828Leu) rs2105643462
NM_001378120.1(MBD5):c.2495A>G (p.Tyr832Cys) rs954814725
NM_001378120.1(MBD5):c.2518+6G>A
NM_001378120.1(MBD5):c.2519G>C (p.Gly840Ala) rs2105071209
NM_001378120.1(MBD5):c.2523_2528del (p.Ser842_Gly843del) rs1681214533
NM_001378120.1(MBD5):c.2527G>A (p.Gly843Arg)
NM_001378120.1(MBD5):c.2527_2529dup (p.Gly843dup) rs2105071357
NM_001378120.1(MBD5):c.2528G>A (p.Gly843Glu) rs2105071391
NM_001378120.1(MBD5):c.2539T>C (p.Ser847Pro) rs2105071445
NM_001378120.1(MBD5):c.2546C>T (p.Ala849Val)
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val) rs1574476665
NM_001378120.1(MBD5):c.2552C>A (p.Ala851Glu) rs144557654
NM_001378120.1(MBD5):c.2565C>G (p.His855Gln) rs2105071741
NM_001378120.1(MBD5):c.2581ACA[1] (p.Thr862del)
NM_001378120.1(MBD5):c.2585C>T (p.Thr862Ile) rs1681217722
NM_001378120.1(MBD5):c.2596C>G (p.Gln866Glu)
NM_001378120.1(MBD5):c.259G>A (p.Ala87Thr) rs755990856
NM_001378120.1(MBD5):c.25G>A (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg) rs143952512
NM_001378120.1(MBD5):c.2605G>T (p.Val869Phe) rs116207524
NM_001378120.1(MBD5):c.2612T>C (p.Val871Ala) rs753164504
NM_001378120.1(MBD5):c.2617A>G (p.Thr873Ala)
NM_001378120.1(MBD5):c.2632C>A (p.Pro878Thr) rs752535474
NM_001378120.1(MBD5):c.2636T>G (p.Leu879Arg)
NM_001378120.1(MBD5):c.2642G>A (p.Ser881Asn) rs1559094826
NM_001378120.1(MBD5):c.2645A>T (p.Gln882Leu) rs151173122
NM_001378120.1(MBD5):c.2653A>G (p.Ile885Val) rs2105072567
NM_001378120.1(MBD5):c.2686C>A (p.His896Asn)
NM_001378120.1(MBD5):c.268G>A (p.Val90Ile) rs1329667912
NM_001378120.1(MBD5):c.2692C>T (p.Leu898Phe)
NM_001378120.1(MBD5):c.2720A>G (p.Asn907Ser) rs2105073027
NM_001378120.1(MBD5):c.2721C>A (p.Asn907Lys)
NM_001378120.1(MBD5):c.2725C>T (p.His909Tyr)
NM_001378120.1(MBD5):c.2728C>G (p.Leu910Val)
NM_001378120.1(MBD5):c.2734C>T (p.His912Tyr) rs1681223936
NM_001378120.1(MBD5):c.2736C>A (p.His912Gln) rs756653034
NM_001378120.1(MBD5):c.2738C>T (p.Pro913Leu)
NM_001378120.1(MBD5):c.2750G>C (p.Ser917Thr)
NM_001378120.1(MBD5):c.2752C>T (p.Leu918Phe)
NM_001378120.1(MBD5):c.2762C>G (p.Ser921Cys)
NM_001378120.1(MBD5):c.2773T>A (p.Ser925Thr)
NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly)
NM_001378120.1(MBD5):c.2824C>T (p.Leu942Phe)
NM_001378120.1(MBD5):c.2827C>G (p.Gln943Glu)
NM_001378120.1(MBD5):c.2830C>G (p.Pro944Ala)
NM_001378120.1(MBD5):c.2839G>A (p.Gly947Arg)
NM_001378120.1(MBD5):c.28G>A (p.Gly10Arg) rs1706964102
NM_001378120.1(MBD5):c.290C>T (p.Thr97Ile) rs1341554170
NM_001378120.1(MBD5):c.302T>C (p.Ile101Thr) rs1559083106
NM_001378120.1(MBD5):c.308A>G (p.Lys103Arg)
NM_001378120.1(MBD5):c.321T>G (p.Ile107Met) rs1553517962
NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly)
NM_001378120.1(MBD5):c.337C>A (p.His113Asn)
NM_001378120.1(MBD5):c.337C>T (p.His113Tyr)
NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp) rs765892446
NM_001378120.1(MBD5):c.3545-3T>C
NM_001378120.1(MBD5):c.3547G>A (p.Asp1183Asn)
NM_001378120.1(MBD5):c.3551T>C (p.Met1184Thr) rs1681317802
NM_001378120.1(MBD5):c.3564C>A (p.Asn1188Lys) rs1559096615
NM_001378120.1(MBD5):c.3579C>A (p.Asn1193Lys)
NM_001378120.1(MBD5):c.3583C>A (p.Gln1195Lys) rs1200329763
NM_001378120.1(MBD5):c.3590C>A (p.Thr1197Asn)
NM_001378120.1(MBD5):c.3590C>T (p.Thr1197Ile) rs750939401
NM_001378120.1(MBD5):c.3617A>G (p.Asn1206Ser)
NM_001378120.1(MBD5):c.3624G>A (p.Met1208Ile)
NM_001378120.1(MBD5):c.3650A>G (p.Gln1217Arg) rs1681321643
NM_001378120.1(MBD5):c.3650_3652del (p.Gln1217del) rs2105093794
NM_001378120.1(MBD5):c.365C>T (p.Ser122Phe)
NM_001378120.1(MBD5):c.3677A>G (p.Gln1226Arg)
NM_001378120.1(MBD5):c.3679G>A (p.Ala1227Thr)
NM_001378120.1(MBD5):c.3685C>A (p.Gln1229Lys) rs2105094167
NM_001378120.1(MBD5):c.3689G>A (p.Gly1230Glu) rs1429887811
NM_001378120.1(MBD5):c.3692A>C (p.Gln1231Pro)
NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)
NM_001378120.1(MBD5):c.3719A>G (p.Asn1240Ser)
NM_001378120.1(MBD5):c.3727A>G (p.Met1243Val) rs1681325771
NM_001378120.1(MBD5):c.3728T>C (p.Met1243Thr) rs1435405119
NM_001378120.1(MBD5):c.3730G>A (p.Ala1244Thr) rs1386609853
NM_001378120.1(MBD5):c.3734G>A (p.Cys1245Tyr) rs1559096858
NM_001378120.1(MBD5):c.3737T>C (p.Leu1246Pro)
NM_001378120.1(MBD5):c.3761T>G (p.Met1254Arg)
NM_001378120.1(MBD5):c.3764A>C (p.Gln1255Pro)
NM_001378120.1(MBD5):c.3766G>A (p.Glu1256Lys) rs1064796473
NM_001378120.1(MBD5):c.3770A>T (p.Asp1257Val) rs1681443164
NM_001378120.1(MBD5):c.3772G>T (p.Ala1258Ser) rs1553520432
NM_001378120.1(MBD5):c.3791G>C (p.Arg1264Thr)
NM_001378120.1(MBD5):c.3797G>T (p.Ser1266Ile) rs2105123807
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile) rs1681444814
NM_001378120.1(MBD5):c.3812T>C (p.Leu1271Pro) rs963277503
NM_001378120.1(MBD5):c.3856C>G (p.Gln1286Glu)
NM_001378120.1(MBD5):c.3881C>A (p.Pro1294Gln)
NM_001378120.1(MBD5):c.3902G>A (p.Gly1301Asp)
NM_001378120.1(MBD5):c.3904C>A (p.Gln1302Lys) rs796052715
NM_001378120.1(MBD5):c.3917A>T (p.Asp1306Val)
NM_001378120.1(MBD5):c.3925G>T (p.Val1309Phe)
NM_001378120.1(MBD5):c.3931G>T (p.Gly1311Cys)
NM_001378120.1(MBD5):c.3932G>A (p.Gly1311Asp) rs1352862206
NM_001378120.1(MBD5):c.3934G>T (p.Gly1312Cys) rs1172686822
NM_001378120.1(MBD5):c.3935_3936delinsTT (p.Gly1312Val)
NM_001378120.1(MBD5):c.3938C>G (p.Pro1313Arg)
NM_001378120.1(MBD5):c.3940G>C (p.Gly1314Arg)
NM_001378120.1(MBD5):c.394A>G (p.Thr132Ala) rs1707177360
NM_001378120.1(MBD5):c.3974T>A (p.Val1325Asp)
NM_001378120.1(MBD5):c.398-3C>T
NM_001378120.1(MBD5):c.3985G>A (p.Ala1329Thr)
NM_001378120.1(MBD5):c.4002G>T (p.Gln1334His) rs1681454577
NM_001378120.1(MBD5):c.4013C>T (p.Thr1338Ile)
NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile)
NM_001378120.1(MBD5):c.4048A>G (p.Ile1350Val)
NM_001378120.1(MBD5):c.4051C>T (p.Pro1351Ser) rs886054912
NM_001378120.1(MBD5):c.4071T>A (p.Ser1357Arg)
NM_001378120.1(MBD5):c.4087A>G (p.Ile1363Val)
NM_001378120.1(MBD5):c.4091G>A (p.Gly1364Asp) rs2105126261
NM_001378120.1(MBD5):c.4094A>G (p.Asp1365Gly)
NM_001378120.1(MBD5):c.4096C>T (p.Pro1366Ser)
NM_001378120.1(MBD5):c.4097C>G (p.Pro1366Arg) rs2105126294
NM_001378120.1(MBD5):c.4115C>T (p.Ala1372Val) rs1363547537
NM_001378120.1(MBD5):c.4122T>A (p.Ser1374Arg)
NM_001378120.1(MBD5):c.4126G>A (p.Val1376Ile)
NM_001378120.1(MBD5):c.4135G>C (p.Gly1379Arg) rs1559098890
NM_001378120.1(MBD5):c.413T>C (p.Val138Ala) rs2105622190
NM_001378120.1(MBD5):c.4141A>G (p.Asn1381Asp)
NM_001378120.1(MBD5):c.4142A>G (p.Asn1381Ser)
NM_001378120.1(MBD5):c.4143C>G (p.Asn1381Lys) rs758083193
NM_001378120.1(MBD5):c.4151G>A (p.Gly1384Asp)
NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg)
NM_001378120.1(MBD5):c.416C>G (p.Pro139Arg)
NM_001378120.1(MBD5):c.4185A>C (p.Arg1395Ser)
NM_001378120.1(MBD5):c.4187G>A (p.Gly1396Glu)
NM_001378120.1(MBD5):c.4204A>C (p.Asn1402His)
NM_001378120.1(MBD5):c.4219A>G (p.Lys1407Glu)
NM_001378120.1(MBD5):c.4237G>A (p.Asp1413Asn) rs2105127714
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_001378120.1(MBD5):c.4247A>C (p.Glu1416Ala)
NM_001378120.1(MBD5):c.4248A>C (p.Glu1416Asp) rs201465308
NM_001378120.1(MBD5):c.424G>A (p.Ala142Thr)
NM_001378120.1(MBD5):c.4265G>A (p.Ser1422Asn)
NM_001378120.1(MBD5):c.4268G>T (p.Cys1423Phe) rs1486727511
NM_001378120.1(MBD5):c.4276T>G (p.Ser1426Ala) rs1681466995
NM_001378120.1(MBD5):c.4277C>A (p.Ser1426Tyr)
NM_001378120.1(MBD5):c.4285C>G (p.Gln1429Glu) rs1681467295
NM_001378120.1(MBD5):c.4288T>C (p.Trp1430Arg)
NM_001378120.1(MBD5):c.4292A>G (p.Asp1431Gly) rs1681467352
NM_001378120.1(MBD5):c.4293C>G (p.Asp1431Glu)
NM_001378120.1(MBD5):c.4313G>A (p.Gly1438Glu) rs1559099144
NM_001378120.1(MBD5):c.4313G>T (p.Gly1438Val) rs1559099144
NM_001378120.1(MBD5):c.4317G>T (p.Glu1439Asp)
NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile) rs1553518402
NM_001378120.1(MBD5):c.4322A>G (p.Asn1441Ser) rs1574485128
NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp) rs1681469923
NM_001378120.1(MBD5):c.4336G>A (p.Glu1446Lys)
NM_001378120.1(MBD5):c.4372A>G (p.Ser1458Gly)
NM_001378120.1(MBD5):c.4387A>G (p.Arg1463Gly)
NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp)
NM_001378120.1(MBD5):c.4389G>T (p.Arg1463Ser) rs1371018820
NM_001378120.1(MBD5):c.4390C>T (p.Pro1464Ser)
NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser) rs1681472341
NM_001378120.1(MBD5):c.440C>T (p.Ser147Leu)
NM_001378120.1(MBD5):c.4414T>C (p.Phe1472Leu)
NM_001378120.1(MBD5):c.4431_4432delinsAA (p.His1478Asn) rs2105129435
NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr)
NM_001378120.1(MBD5):c.443T>C (p.Val148Ala)
NM_001378120.1(MBD5):c.4455A>C (p.Arg1485Ser) rs747940875
NM_001378120.1(MBD5):c.4457A>C (p.Asn1486Thr) rs1681475025
NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu)
NM_001378120.1(MBD5):c.4474A>C (p.Ile1492Leu) rs370231736
NM_001378120.1(MBD5):c.4483G>A (p.Glu1495Lys)
NM_001378120.1(MBD5):c.4492A>G (p.Arg1498Gly) rs1165120864
NM_001378120.1(MBD5):c.4498A>G (p.Asn1500Asp)
NM_001378120.1(MBD5):c.4499A>T (p.Asn1500Ile)
NM_001378120.1(MBD5):c.4507A>G (p.Lys1503Glu) rs1574485440
NM_001378120.1(MBD5):c.4520T>C (p.Met1507Thr)
NM_001378120.1(MBD5):c.4521G>T (p.Met1507Ile)
NM_001378120.1(MBD5):c.4523G>A (p.Ser1508Asn)
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln) rs1296916399
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.4591A>G (p.Ser1531Gly) rs781154198
NM_001378120.1(MBD5):c.4618A>T (p.Thr1540Ser)
NM_001378120.1(MBD5):c.4637T>C (p.Val1546Ala)
NM_001378120.1(MBD5):c.4642G>A (p.Glu1548Lys)
NM_001378120.1(MBD5):c.4645G>A (p.Glu1549Lys)
NM_001378120.1(MBD5):c.4651T>C (p.Ser1551Pro)
NM_001378120.1(MBD5):c.4654C>T (p.Pro1552Ser)
NM_001378120.1(MBD5):c.4669A>G (p.Ser1557Gly)
NM_001378120.1(MBD5):c.4670G>A (p.Ser1557Asn) rs1278585545
NM_001378120.1(MBD5):c.4679A>T (p.Asn1560Ile) rs1559099606
NM_001378120.1(MBD5):c.467T>C (p.Ile156Thr) rs1465957655
NM_001378120.1(MBD5):c.4682C>A (p.Ser1561Tyr)
NM_001378120.1(MBD5):c.4691A>G (p.Lys1564Arg)
NM_001378120.1(MBD5):c.4692A>C (p.Lys1564Asn) rs1553520621
NM_001378120.1(MBD5):c.4703A>G (p.His1568Arg) rs999944646
NM_001378120.1(MBD5):c.4704T>A (p.His1568Gln)
NM_001378120.1(MBD5):c.4709A>G (p.Asn1570Ser)
NM_001378120.1(MBD5):c.4741T>C (p.Cys1581Arg) rs1396512077
NM_001378120.1(MBD5):c.4769G>A (p.Ser1590Asn) rs2105131988
NM_001378120.1(MBD5):c.4833T>C (p.Tyr1611=) rs1681489070
NM_001378120.1(MBD5):c.4837C>A (p.Pro1613Thr) rs773779478
NM_001378120.1(MBD5):c.4837C>G (p.Pro1613Ala) rs773779478
NM_001378120.1(MBD5):c.4848C>G (p.Phe1616Leu)
NM_001378120.1(MBD5):c.4849A>G (p.Asn1617Asp) rs1681490063
NM_001378120.1(MBD5):c.4850A>C (p.Asn1617Thr) rs753754490
NM_001378120.1(MBD5):c.4880A>G (p.Lys1627Arg)
NM_001378120.1(MBD5):c.4904A>T (p.Lys1635Ile) rs1681492416
NM_001378120.1(MBD5):c.490T>C (p.Cys164Arg)
NM_001378120.1(MBD5):c.4920C>A (p.Asp1640Glu) rs768363712
NM_001378120.1(MBD5):c.4924G>T (p.Val1642Phe) rs770196931
NM_001378120.1(MBD5):c.4931A>T (p.Asn1644Ile)
NM_001378120.1(MBD5):c.4962+6C>A rs2105133581
NM_001378120.1(MBD5):c.4963-2A>T rs2105225632
NM_001378120.1(MBD5):c.4966G>C (p.Glu1656Gln)
NM_001378120.1(MBD5):c.4991C>G (p.Thr1664Arg)
NM_001378120.1(MBD5):c.4996G>A (p.Gly1666Ser)
NM_001378120.1(MBD5):c.5021G>C (p.Arg1674Pro)
NM_001378120.1(MBD5):c.503T>C (p.Phe168Ser)
NM_001378120.1(MBD5):c.5050A>T (p.Asn1684Tyr)
NM_001378120.1(MBD5):c.5071_5073dup (p.Ile1691_His1692insIle)
NM_001378120.1(MBD5):c.5085G>A (p.Met1695Ile) rs1682172933
NM_001378120.1(MBD5):c.5086A>G (p.Ser1696Gly)
NM_001378120.1(MBD5):c.50C>A (p.Pro17Gln)
NM_001378120.1(MBD5):c.50C>T (p.Pro17Leu) rs1706964965
NM_001378120.1(MBD5):c.5103_5104del (p.Met1701fs)
NM_001378120.1(MBD5):c.5104T>C (p.Ser1702Pro) rs1131691294
NM_001378120.1(MBD5):c.5104_5107del (p.Ser1702fs)
NM_001378120.1(MBD5):c.5130G>C (p.Gln1710His) rs2105294933
NM_001378120.1(MBD5):c.5138G>A (p.Arg1713Lys) rs913152551
NM_001378120.1(MBD5):c.513G>A (p.Met171Ile) rs1301707163
NM_001378120.1(MBD5):c.5140C>A (p.Gln1714Lys)
NM_001378120.1(MBD5):c.5140C>T (p.Gln1714Ter)
NM_001378120.1(MBD5):c.5149C>T (p.Pro1717Ser)
NM_001378120.1(MBD5):c.5153C>T (p.Pro1718Leu) rs1682261070
NM_001378120.1(MBD5):c.5154dup (p.Lys1719fs)
NM_001378120.1(MBD5):c.5157A>T (p.Lys1719Asn) rs1553523408
NM_001378120.1(MBD5):c.5159C>T (p.Pro1720Leu) rs2105295194
NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr) rs1481914876
NM_001378120.1(MBD5):c.5175C>G (p.Ile1725Met)
NM_001378120.1(MBD5):c.5182T>A (p.Ter1728Lys)
NM_001378120.1(MBD5):c.521C>T (p.Ser174Leu)
NM_001378120.1(MBD5):c.524C>T (p.Ser175Leu)
NM_001378120.1(MBD5):c.540G>C (p.Arg180Ser)
NM_001378120.1(MBD5):c.540_541delinsTA (p.Arg180_Leu181delinsSerIle) rs1680666363
NM_001378120.1(MBD5):c.55A>G (p.Ile19Val) rs1559080667
NM_001378120.1(MBD5):c.560C>A (p.Pro187His) rs2105623463
NM_001378120.1(MBD5):c.568CAA[2] (p.Gln192del)
NM_001378120.1(MBD5):c.577G>C (p.Glu193Gln)
NM_001378120.1(MBD5):c.601C>A (p.Gln201Lys)
NM_001378120.1(MBD5):c.611G>A (p.Gly204Asp) rs2105624053
NM_001378120.1(MBD5):c.622C>T (p.His208Tyr) rs1574458957
NM_001378120.1(MBD5):c.623A>G (p.His208Arg)
NM_001378120.1(MBD5):c.629A>G (p.Gln210Arg)
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.64C>T (p.Pro22Ser)
NM_001378120.1(MBD5):c.651C>G (p.Ser217Arg)
NM_001378120.1(MBD5):c.655G>A (p.Gly219Arg)
NM_001378120.1(MBD5):c.674C>T (p.Ala225Val) rs1680672762
NM_001378120.1(MBD5):c.695A>G (p.Tyr232Cys)
NM_001378120.1(MBD5):c.698G>A (p.Gly233Glu) rs1680673882
NM_001378120.1(MBD5):c.706T>C (p.Ser236Pro)
NM_001378120.1(MBD5):c.706T>G (p.Ser236Ala) rs1680674275
NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys) rs2105537073
NM_001378120.1(MBD5):c.728C>T (p.Pro243Leu)
NM_001378120.1(MBD5):c.742G>A (p.Asp248Asn)
NM_001378120.1(MBD5):c.754A>G (p.Arg252Gly)
NM_001378120.1(MBD5):c.755G>A (p.Arg252Lys) rs1680677784
NM_001378120.1(MBD5):c.759T>G (p.Ser253Arg)
NM_001378120.1(MBD5):c.779C>A (p.Ala260Asp)
NM_001378120.1(MBD5):c.788C>G (p.Ser263Cys)
NM_001378120.1(MBD5):c.797T>G (p.Ile266Ser) rs2105626027
NM_001378120.1(MBD5):c.800A>G (p.His267Arg) rs796052708
NM_001378120.1(MBD5):c.809G>A (p.Arg270Lys)
NM_001378120.1(MBD5):c.80G>A (p.Arg27His) rs1706965994
NM_001378120.1(MBD5):c.811A>G (p.Thr271Ala) rs899476247
NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)
NM_001378120.1(MBD5):c.817C>G (p.Leu273Val) rs776894242
NM_001378120.1(MBD5):c.826C>G (p.Pro276Ala)
NM_001378120.1(MBD5):c.82C>T (p.Arg28Cys)
NM_001378120.1(MBD5):c.845G>A (p.Gly282Asp) rs759201974
NM_001378120.1(MBD5):c.857A>G (p.Gln286Arg)
NM_001378120.1(MBD5):c.887A>G (p.Asn296Ser) rs990703439
NM_001378120.1(MBD5):c.889A>C (p.Ile297Leu) rs2105626905
NM_001378120.1(MBD5):c.889A>G (p.Ile297Val) rs2105626905
NM_001378120.1(MBD5):c.893C>T (p.Pro298Leu)
NM_001378120.1(MBD5):c.8G>T (p.Gly3Val) rs794727807
NM_001378120.1(MBD5):c.920G>A (p.Ser307Asn)
NM_001378120.1(MBD5):c.923C>A (p.Pro308Gln)
NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr)
NM_001378120.1(MBD5):c.942G>A (p.Met314Ile)
NM_001378120.1(MBD5):c.948T>A (p.Asn316Lys)
NM_001378120.1(MBD5):c.971C>G (p.Pro324Arg)
NM_001378120.1(MBD5):c.979A>G (p.Met327Val) rs1680685772
NM_001378120.1(MBD5):c.989A>G (p.His330Arg) rs750043178
NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter) rs2040205774
NM_001378414.1(HDAC4):c.2414dup (p.Gly806fs) rs748900140
NM_001378414.1(HDAC4):c.490+56_490+120del
NM_001379200.1(TBX1):c.1000G>A (p.Val334Met)
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala) rs1335862067
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys) rs1294861011
NM_001379200.1(TBX1):c.1026C>T (p.Gly342=)
NM_001379200.1(TBX1):c.1028C>A (p.Thr343Lys)
NM_001379200.1(TBX1):c.1030G>A (p.Glu344Lys)
NM_001379200.1(TBX1):c.1036+4G>T rs1936826165
NM_001379200.1(TBX1):c.1036+6G>A
NM_001379200.1(TBX1):c.1036G>A (p.Asp346Asn)
NM_001379200.1(TBX1):c.1037-11C>T
NM_001379200.1(TBX1):c.1037-1G>A rs1936844527
NM_001379200.1(TBX1):c.1037-7_1037-6del rs1037168604
NM_001379200.1(TBX1):c.1041G>A (p.Ala347=)
NM_001379200.1(TBX1):c.1045G>A (p.Glu349Lys)
NM_001379200.1(TBX1):c.1046A>T (p.Glu349Val) rs751917634
NM_001379200.1(TBX1):c.104G>A (p.Gly35Asp)
NM_001379200.1(TBX1):c.104G>T (p.Gly35Val)
NM_001379200.1(TBX1):c.1051C>T (p.Arg351Trp)
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser) rs1046395605
NM_001379200.1(TBX1):c.1067G>A (p.Arg356His)
NM_001379200.1(TBX1):c.1070A>G (p.Asp357Gly)
NM_001379200.1(TBX1):c.1071C>A (p.Asp357Glu)
NM_001379200.1(TBX1):c.1072G>A (p.Ala358Thr)
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) rs1452987245
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.1076G>T (p.Gly359Val) rs781731042
NM_001379200.1(TBX1):c.1085C>T (p.Ala362Val) rs569581176
NM_001379200.1(TBX1):c.1089_1090delinsAA (p.Leu364Ile)
NM_001379200.1(TBX1):c.1090C>T (p.Leu364Phe) rs1200093941
NM_001379200.1(TBX1):c.1096G>A (p.Asp366Asn)
NM_001379200.1(TBX1):c.1099C>G (p.Pro367Ala) rs2145838185
NM_001379200.1(TBX1):c.109C>A (p.Pro37Thr) rs2145827634
NM_001379200.1(TBX1):c.1105C>T (p.His369Tyr) rs1936848458
NM_001379200.1(TBX1):c.1112C>T (p.Pro371Leu)
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
NM_001379200.1(TBX1):c.1121T>C (p.Leu374Pro)
NM_001379200.1(TBX1):c.1135A>G (p.Ser379Gly) rs2145838292
NM_001379200.1(TBX1):c.1138C>T (p.Pro380Ser) rs922499443
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu) rs1936850184
NM_001379200.1(TBX1):c.1145T>C (p.Leu382Pro) rs2145838313
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His) rs953761540
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) rs1192078635
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly) rs1555896709
NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1]) rs1288296547
NM_001379200.1(TBX1):c.115G>A (p.Ala39Thr)
NM_001379200.1(TBX1):c.115_213del (p.Ala39_Gly71del)
NM_001379200.1(TBX1):c.1160G>A (p.Gly387Asp) rs2145838410
NM_001379200.1(TBX1):c.1165G>A (p.Gly389Ser)
NM_001379200.1(TBX1):c.1168G>C (p.Gly390Arg) rs1408610906
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser) rs1936852709
NM_001379200.1(TBX1):c.1178C>G (p.Pro393Arg)
NM_001379200.1(TBX1):c.1180C>A (p.Leu394Met)
NM_001379200.1(TBX1):c.1189G>A (p.Ala397Thr) rs2145838479
NM_001379200.1(TBX1):c.1196G>A (p.Gly399Glu) rs1274082696
NM_001379200.1(TBX1):c.1196G>T (p.Gly399Val)
NM_001379200.1(TBX1):c.1198G>C (p.Gly400Arg) rs1936854182
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln) rs1270901790
NM_001379200.1(TBX1):c.1204C>T (p.Pro402Ser) rs1485590152
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg) rs1936854828
NM_001379200.1(TBX1):c.1208G>A (p.Ser403Asn) rs749558577
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
NM_001379200.1(TBX1):c.1214C>G (p.Pro405Arg)
NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser) rs1936855908
NM_001379200.1(TBX1):c.1238C>T (p.Ala413Val)
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser) rs2145827697
NM_001379200.1(TBX1):c.1250C>T (p.Ser417Leu) rs779281442
NM_001379200.1(TBX1):c.1254G>T (p.Glu418Asp)
NM_001379200.1(TBX1):c.1256C>T (p.Pro419Leu)
NM_001379200.1(TBX1):c.1261C>A (p.His421Asn) rs985907694
NM_001379200.1(TBX1):c.1265A>G (p.His422Arg)
NM_001379200.1(TBX1):c.1266_1267delinsAT (p.His422_His423delinsGlnTyr)
NM_001379200.1(TBX1):c.1268A>C (p.His423Pro)
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His) rs1243986502
NM_001379200.1(TBX1):c.1276A>C (p.Lys426Gln)
NM_001379200.1(TBX1):c.127G>A (p.Gly43Ser) rs1936637392
NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys) rs1936637392
NM_001379200.1(TBX1):c.1280A>T (p.Tyr427Phe) rs1601294456
NM_001379200.1(TBX1):c.1282C>T (p.Pro428Ser)
NM_001379200.1(TBX1):c.1283C>G (p.Pro428Arg)
NM_001379200.1(TBX1):c.1297G>T (p.Asp433Tyr) rs758517884
NM_001379200.1(TBX1):c.1299C>A (p.Asp433Glu)
NM_001379200.1(TBX1):c.1301A>C (p.His434Pro)
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
NM_001379200.1(TBX1):c.1302_1304del (p.Tyr435del) rs1936861633
NM_001379200.1(TBX1):c.1306C>T (p.Leu436Phe)
NM_001379200.1(TBX1):c.1309G>T (p.Gly437Trp)
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg) rs2145838985
NM_001379200.1(TBX1):c.1321C>T (p.Arg441Trp)
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser) rs777873225
NM_001379200.1(TBX1):c.1345G>C (p.Gly449Arg) rs777873225
NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val) rs751740430
NM_001379200.1(TBX1):c.1361_1375del (p.Gly454_His458del)
NM_001379200.1(TBX1):c.1361_1384dup (p.Pro461_His462insArgTyrHisProHisAlaHisPro)
NM_001379200.1(TBX1):c.1363T>C (p.Tyr455His)
NM_001379200.1(TBX1):c.1368C>A (p.His456Gln) rs1601294758
NM_001379200.1(TBX1):c.1369C>T (p.Pro457Ser)
NM_001379200.1(TBX1):c.1370C>G (p.Pro457Arg)
NM_001379200.1(TBX1):c.1375_1386dup (p.His462_His463insAlaHisProHis)
NM_001379200.1(TBX1):c.1375dup (p.Ala459fs)
NM_001379200.1(TBX1):c.1376C>T (p.Ala459Val) rs1936866904
NM_001379200.1(TBX1):c.1379A>T (p.His460Leu) rs1384737337
NM_001379200.1(TBX1):c.1380T>A (p.His460Gln)
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln) rs367711718
NM_001379200.1(TBX1):c.1381C>T (p.Pro461Ser)
NM_001379200.1(TBX1):c.1382C>T (p.Pro461Leu) rs1936867566
NM_001379200.1(TBX1):c.1385ACC[3] (p.His465_His466del) rs753713234
NM_001379200.1(TBX1):c.1385ACC[6] (p.His466_Pro467insHis)
NM_001379200.1(TBX1):c.1385ACC[7] (p.His466_Pro467insHisHis)
NM_001379200.1(TBX1):c.1387C>A (p.His463Asn)
NM_001379200.1(TBX1):c.1388A>G (p.His463Arg)
NM_001379200.1(TBX1):c.1393C>G (p.His465Asp) rs2145839292
NM_001379200.1(TBX1):c.1394_1397dup (p.His466fs)
NM_001379200.1(TBX1):c.1399C>A (p.Pro467Thr) rs765827356
NM_001379200.1(TBX1):c.1399C>T (p.Pro467Ser)
NM_001379200.1(TBX1):c.1400C>T (p.Pro467Leu) rs1936869060
NM_001379200.1(TBX1):c.1408_1416del (p.Pro470_Ala472del)
NM_001379200.1(TBX1):c.1408_1446del (p.Pro470_Ala482del) rs1238730283
NM_001379200.1(TBX1):c.1414_1415del (p.Ala472fs)
NM_001379200.1(TBX1):c.1417G>T (p.Ala473Ser)
NM_001379200.1(TBX1):c.1419_1421dup (p.Ala485_Asn486insAla)
NM_001379200.1(TBX1):c.1419_1424dup (p.Ala484_Ala485dup) rs1478207118
NM_001379200.1(TBX1):c.1419_1427dup (p.Ala485_Asn486insAlaAlaAla)
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del) rs780815537
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
NM_001379200.1(TBX1):c.1422CGC[5] (p.Ala485dup) rs756680878
NM_001379200.1(TBX1):c.1422CGC[6] (p.Ala485_Asn486insAlaAla)
NM_001379200.1(TBX1):c.1423G>A (p.Ala475Thr)
NM_001379200.1(TBX1):c.1426_1455del (p.Ala476_Ala485del) rs746335599
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs746335599
NM_001379200.1(TBX1):c.1436_1474dup (p.Ala479_Ala491dup) rs1569024504
NM_001379200.1(TBX1):c.143G>T (p.Gly48Val)
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup) rs748434309
NM_001379200.1(TBX1):c.1440_1454dup (p.Ala485_Asn486insAlaAlaAlaAlaAla)
NM_001379200.1(TBX1):c.1443_1451dup (p.Ala483_Ala485dup) rs760701410
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
NM_001379200.1(TBX1):c.1451C>T (p.Ala484Val) rs1407079342
NM_001379200.1(TBX1):c.1459A>G (p.Met487Val)
NM_001379200.1(TBX1):c.1459A>T (p.Met487Leu) rs1936874664
NM_001379200.1(TBX1):c.1461G>A (p.Met487Ile) rs371506174
NM_001379200.1(TBX1):c.1465T>C (p.Ser489Pro)
NM_001379200.1(TBX1):c.1465TCG[1] (p.Ser490del)
NM_001379200.1(TBX1):c.1466C>T (p.Ser489Leu) rs2145839683
NM_001379200.1(TBX1):c.1468T>C (p.Ser490Pro)
NM_001379200.1(TBX1):c.1474G>T (p.Gly492Ter) rs541198585
NM_001379200.1(TBX1):c.1483_1488del (p.Pro495_Pro496del)
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln) rs762076391
NM_001379200.1(TBX1):c.1495T>G (p.Tyr499Asp)
NM_001379200.1(TBX1):c.1501T>A (p.Tyr501Asn)
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
NM_001379200.1(TBX1):c.1508C>T (p.Pro503Leu)
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del) rs1601282938
NM_001379200.1(TBX1):c.154C>A (p.Pro52Thr)
NM_001379200.1(TBX1):c.157C>T (p.Pro53Ser) rs1936638931
NM_001379200.1(TBX1):c.158CGC[3] (p.Pro56_Pro57del) rs886038791
NM_001379200.1(TBX1):c.166C>T (p.Pro56Ser)
NM_001379200.1(TBX1):c.167_229del (p.Pro56_Pro76del) rs2145827836
NM_001379200.1(TBX1):c.170C>T (p.Pro57Leu)
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)
NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del) rs1569018211
NM_001379200.1(TBX1):c.182C>T (p.Pro61Leu) rs1936640287
NM_001379200.1(TBX1):c.185G>A (p.Cys62Tyr)
NM_001379200.1(TBX1):c.187GCC[3] (p.Ala66del)
NM_001379200.1(TBX1):c.187GCC[5] (p.Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.187GCC[7] (p.Ala64_Ala66dup) rs1032291296
NM_001379200.1(TBX1):c.194_202del (p.Ala65_Pro67del) rs1601283061
NM_001379200.1(TBX1):c.203G>A (p.Gly68Asp)
NM_001379200.1(TBX1):c.212G>A (p.Gly71Asp)
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
NM_001379200.1(TBX1):c.215CGC[7] (p.Pro75_Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu) rs1936642852
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser) rs1936642931
NM_001379200.1(TBX1):c.221C>T (p.Pro74Leu)
NM_001379200.1(TBX1):c.224C>T (p.Pro75Leu)
NM_001379200.1(TBX1):c.227C>T (p.Pro76Leu)
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
NM_001379200.1(TBX1):c.230A>T (p.His77Leu)
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr) rs1028072654
NM_001379200.1(TBX1):c.239C>A (p.Pro80Gln)
NM_001379200.1(TBX1):c.239C>G (p.Pro80Arg) rs984681986
NM_001379200.1(TBX1):c.245C>A (p.Ala82Glu)
NM_001379200.1(TBX1):c.247C>T (p.Pro83Ser)
NM_001379200.1(TBX1):c.253G>A (p.Ala85Thr) rs769629385
NM_001379200.1(TBX1):c.259G>T (p.Ala87Ser)
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
NM_001379200.1(TBX1):c.265_276del (p.Thr89_Ala92del)
NM_001379200.1(TBX1):c.277_278delinsAA (p.Ala93Asn)
NM_001379200.1(TBX1):c.284C>G (p.Pro95Arg) rs775295536
NM_001379200.1(TBX1):c.290G>A (p.Gly97Asp)
NM_001379200.1(TBX1):c.302G>C (p.Ser101Thr)
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr) rs1936647003
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
NM_001379200.1(TBX1):c.326C>T (p.Pro109Leu) rs754087937
NM_001379200.1(TBX1):c.328G>T (p.Val110Leu) rs1221938042
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
NM_001379200.1(TBX1):c.341C>T (p.Ala114Val)
NM_001379200.1(TBX1):c.353G>A (p.Gly118Asp)
NM_001379200.1(TBX1):c.366G>C (p.Gln122His)
NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
NM_001379200.1(TBX1):c.373A>T (p.Met125Leu)
NM_001379200.1(TBX1):c.380C>T (p.Ala127Val) rs1601283489
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu) rs772419022
NM_001379200.1(TBX1):c.402G>C (p.Gln134His)
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) rs1445910672
NM_001379200.1(TBX1):c.421G>C (p.Val141Leu)
NM_001379200.1(TBX1):c.428A>G (p.Lys143Arg)
NM_001379200.1(TBX1):c.42G>T (p.Ser14=)
NM_001379200.1(TBX1):c.433G>A (p.Gly145Ser)
NM_001379200.1(TBX1):c.437+3C>G rs759797253
NM_001379200.1(TBX1):c.437+3C>T rs759797253
NM_001379200.1(TBX1):c.438-14C>G
NM_001379200.1(TBX1):c.438-5C>A rs972035685
NM_001379200.1(TBX1):c.438G>A (p.Arg146=) rs2145832204
NM_001379200.1(TBX1):c.439C>T (p.Arg147Trp) rs1936724586
NM_001379200.1(TBX1):c.447T>G (p.Phe149Leu) rs41298814
NM_001379200.1(TBX1):c.448C>T (p.Pro150Ser) rs1936725102
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
NM_001379200.1(TBX1):c.470T>C (p.Phe157Ser)
NM_001379200.1(TBX1):c.473G>A (p.Gly158Asp)
NM_001379200.1(TBX1):c.485T>C (p.Met162Thr)
NM_001379200.1(TBX1):c.490G>A (p.Asp164Asn)
NM_001379200.1(TBX1):c.496A>G (p.Met166Val)
NM_001379200.1(TBX1):c.502C>T (p.Leu168Phe)
NM_001379200.1(TBX1):c.507G>A (p.Met169Ile)
NM_001379200.1(TBX1):c.511T>A (p.Phe171Ile) rs2145832375
NM_001379200.1(TBX1):c.514G>A (p.Val172Met)
NM_001379200.1(TBX1):c.518C>A (p.Pro173Gln) rs766205381
NM_001379200.1(TBX1):c.526G>A (p.Asp176Asn)
NM_001379200.1(TBX1):c.527A>G (p.Asp176Gly)
NM_001379200.1(TBX1):c.538C>A (p.Arg180=) rs746384751
NM_001379200.1(TBX1):c.538C>T (p.Arg180Trp)
NM_001379200.1(TBX1):c.539+6C>T
NM_001379200.1(TBX1):c.539G>A (p.Arg180Gln) rs770313856
NM_001379200.1(TBX1):c.562T>C (p.Trp188Arg)
NM_001379200.1(TBX1):c.569T>C (p.Val190Ala)
NM_001379200.1(TBX1):c.570G>A (p.Val190=) rs2145833805
NM_001379200.1(TBX1):c.595C>T (p.Pro199Ser)
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
NM_001379200.1(TBX1):c.608A>G (p.His203Arg)
NM_001379200.1(TBX1):c.616C>G (p.Pro206Ala)
NM_001379200.1(TBX1):c.638C>T (p.Ala213Val)
NM_001379200.1(TBX1):c.646A>G (p.Met216Val) rs1224140312
NM_001379200.1(TBX1):c.667G>A (p.Asp223Asn) rs2145834053
NM_001379200.1(TBX1):c.68C>A (p.Thr23Lys)
NM_001379200.1(TBX1):c.706G>A (p.Gly236Ser) rs1294894854
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr) rs965143242
NM_001379200.1(TBX1):c.711+6C>T
NM_001379200.1(TBX1):c.732C>T (p.His244=)
NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)
NM_001379200.1(TBX1):c.761A>C (p.Tyr254Ser)
NM_001379200.1(TBX1):c.761A>G (p.Tyr254Cys)
NM_001379200.1(TBX1):c.772C>T (p.Arg258Cys)
NM_001379200.1(TBX1):c.784G>C (p.Glu262Gln) rs553807294
NM_001379200.1(TBX1):c.796G>A (p.Glu266Lys)
NM_001379200.1(TBX1):c.801G>T (p.Glu267Asp)
NM_001379200.1(TBX1):c.820T>C (p.Phe274Leu)
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) rs144848597
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
NM_001379200.1(TBX1):c.848C>G (p.Thr283Ser) rs2145835312
NM_001379200.1(TBX1):c.884T>C (p.Ile295Thr)
NM_001379200.1(TBX1):c.911T>C (p.Phe304Ser)
NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr) rs1936813859
NM_001379200.1(TBX1):c.92G>T (p.Gly31Val)
NM_001379200.1(TBX1):c.935+16C>A rs200879129
NM_001379200.1(TBX1):c.935+17GA[2] rs770044781
NM_001379200.1(TBX1):c.938C>A (p.Pro313His) rs1014592830
NM_001379200.1(TBX1):c.938C>T (p.Pro313Leu)
NM_001379200.1(TBX1):c.949C>G (p.Arg317Gly)
NM_001379200.1(TBX1):c.950G>T (p.Arg317Leu)
NM_001379200.1(TBX1):c.954_965del (p.Gly319_Pro322del)
NM_001379200.1(TBX1):c.955G>T (p.Gly319Cys) rs41298838
NM_001379200.1(TBX1):c.962T>C (p.Leu321Pro) rs2145836969
NM_001379200.1(TBX1):c.965C>A (p.Pro322Gln)
NM_001379200.1(TBX1):c.971T>G (p.Met324Arg)
NM_001379200.1(TBX1):c.972G>C (p.Met324Ile)
NM_001379200.1(TBX1):c.974G>C (p.Ser325Thr) rs775788782
NM_001379200.1(TBX1):c.985C>T (p.Arg329Cys) rs773107514
NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser) rs745976416
NM_001386298.1(CIC):c.2917C>T (p.His973Tyr)
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_002397.5(MEF2C):c.1037C>T (p.Ser346Leu)
NM_002397.5(MEF2C):c.1072A>G (p.Met358Val)
NM_002397.5(MEF2C):c.1084G>T (p.Ala362Ser) rs1481007836
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
NM_002397.5(MEF2C):c.110T>C (p.Val37Ala) rs1799677960
NM_002397.5(MEF2C):c.1128G>C (p.Gln376His) rs1756837959
NM_002397.5(MEF2C):c.1135A>C (p.Asn379His)
NM_002397.5(MEF2C):c.1138C>A (p.Leu380Ile)
NM_002397.5(MEF2C):c.1139T>A (p.Leu380His)
NM_002397.5(MEF2C):c.119A>G (p.Asp40Gly) rs2153074606
NM_002397.5(MEF2C):c.1207A>T (p.Thr403Ser)
NM_002397.5(MEF2C):c.1211C>A (p.Thr404Asn) rs1756812909
NM_002397.5(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.5(MEF2C):c.1258C>T (p.Pro420Ser)
NM_002397.5(MEF2C):c.128T>G (p.Ile43Ser)
NM_002397.5(MEF2C):c.1298_1303dup (p.Gly433_Ser434dup) rs1272732104
NM_002397.5(MEF2C):c.1301G>A (p.Ser434Asn)
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln) rs1360994640
NM_002397.5(MEF2C):c.131C>A (p.Ala44Glu)
NM_002397.5(MEF2C):c.131C>T (p.Ala44Val) rs1799664202
NM_002397.5(MEF2C):c.1337C>G (p.Pro446Arg) rs2152042647
NM_002397.5(MEF2C):c.1337C>T (p.Pro446Leu)
NM_002397.5(MEF2C):c.1339A>G (p.Ile447Val) rs1756753374
NM_002397.5(MEF2C):c.1366G>T (p.Glu456Ter)
NM_002397.5(MEF2C):c.1368A>C (p.Glu456Asp)
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) rs1799660837
NM_002397.5(MEF2C):c.1382C>A (p.Ser461Ter) rs2152041454
NM_002397.5(MEF2C):c.1403C>T (p.Ser468Phe) rs607159
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.206A>T (p.Tyr69Phe) rs2153074116
NM_002397.5(MEF2C):c.21G>T (p.Gln7His) rs1554150584
NM_002397.5(MEF2C):c.258+20G>A
NM_002397.5(MEF2C):c.258+3G>A
NM_002397.5(MEF2C):c.26C>T (p.Thr9Met) rs2153222916
NM_002397.5(MEF2C):c.280A>G (p.Asn94Asp) rs1777743502
NM_002397.5(MEF2C):c.304G>C (p.Asp102His) rs2152674244
NM_002397.5(MEF2C):c.312C>A (p.Asp104Glu)
NM_002397.5(MEF2C):c.320T>C (p.Val107Ala)
NM_002397.5(MEF2C):c.345C>G (p.Asp115Glu)
NM_002397.5(MEF2C):c.346A>G (p.Lys116Glu) rs1777713411
NM_002397.5(MEF2C):c.387C>G (p.Ser129Arg) rs2152673311
NM_002397.5(MEF2C):c.399G>T (p.Leu133Phe) rs2152673081
NM_002397.5(MEF2C):c.3G>C (p.Met1Ile) rs1554150607
NM_002397.5(MEF2C):c.402+145A>G rs1777617806
NM_002397.5(MEF2C):c.40G>A (p.Glu14Lys)
NM_002397.5(MEF2C):c.413C>A (p.Pro138His)
NM_002397.5(MEF2C):c.43C>G (p.Arg15Gly)
NM_002397.5(MEF2C):c.446T>C (p.Val149Ala) rs1057349061
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.461G>T (p.Ser154Ile)
NM_002397.5(MEF2C):c.478C>T (p.Pro160Ser) rs1772995609
NM_002397.5(MEF2C):c.511C>T (p.Pro171Ser)
NM_002397.5(MEF2C):c.517G>A (p.Ala173Thr)
NM_002397.5(MEF2C):c.53A>G (p.Gln18Arg)
NM_002397.5(MEF2C):c.54+5G>A
NM_002397.5(MEF2C):c.54+6T>C
NM_002397.5(MEF2C):c.541A>G (p.Ser181Gly)
NM_002397.5(MEF2C):c.576T>A (p.Ser192Arg) rs1772929062
NM_002397.5(MEF2C):c.579A>G (p.Ala193=)
NM_002397.5(MEF2C):c.583A>G (p.Asn195Asp)
NM_002397.5(MEF2C):c.589+6T>A rs1370610061
NM_002397.5(MEF2C):c.58A>G (p.Thr20Ala) rs1554139870
NM_002397.5(MEF2C):c.592G>A (p.Gly198Ser) rs1029856807
NM_002397.5(MEF2C):c.595C>G (p.Leu199Val)
NM_002397.5(MEF2C):c.59C>T (p.Thr20Ile) rs2153075088
NM_002397.5(MEF2C):c.614C>T (p.Thr205Met)
NM_002397.5(MEF2C):c.614_626delinsGTCTCCAC (p.Thr205fs) rs1554110298
NM_002397.5(MEF2C):c.626_627insTCTCCAC (p.Thr210fs) rs2152497336
NM_002397.5(MEF2C):c.655C>A (p.Pro219Thr)
NM_002397.5(MEF2C):c.656C>T (p.Pro219Leu) rs1761821562
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.664T>C (p.Ser222Pro)
NM_002397.5(MEF2C):c.685C>A (p.Pro229Thr)
NM_002397.5(MEF2C):c.685C>T (p.Pro229Ser)
NM_002397.5(MEF2C):c.724C>G (p.Pro242Ala)
NM_002397.5(MEF2C):c.746A>G (p.Asn249Ser)
NM_002397.5(MEF2C):c.751C>T (p.Arg251Cys) rs1761787183
NM_002397.5(MEF2C):c.767G>A (p.Arg256Gln) rs1761775496
NM_002397.5(MEF2C):c.769G>C (p.Val257Leu)
NM_002397.5(MEF2C):c.775A>G (p.Ile259Val)
NM_002397.5(MEF2C):c.788G>T (p.Ser263Ile) rs2152279598
NM_002397.5(MEF2C):c.811-5C>G rs1760866808
NM_002397.5(MEF2C):c.823G>C (p.Asp275His)
NM_002397.5(MEF2C):c.892G>A (p.Val298Ile)
NM_002397.5(MEF2C):c.919G>C (p.Gly307Arg)
NM_002397.5(MEF2C):c.91A>G (p.Lys31Glu)
NM_002397.5(MEF2C):c.940G>T (p.Ala314Ser)
NM_002397.5(MEF2C):c.992C>T (p.Ser331Leu)
NM_002487.3(NDN):c.212A>G (p.Gln71Arg) rs1891161078
NM_002487.3(NDN):c.472dup (p.Thr158fs) rs1891151702
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) rs1555376130
NM_002487.3(NDN):c.871C>A (p.Pro291Thr) rs2140756886
NM_002655.3(PLAG1):c.758dup (p.Phe254fs) rs2129224472
NM_003483.6(HMGA2):c.111+6T>A
NM_003836.7(DLK1):c.103G>C (p.Gly35Arg) rs762558665
NM_004237.4(TRIP13):c.1016T>C (p.Met339Thr)
NM_004237.4(TRIP13):c.759+1G>T
NM_004654.4(USP9Y):c.3835C>G (p.Leu1279Val)
NM_004654.4(USP9Y):c.5924C>T (p.Thr1975Ile)
NM_004654.4(USP9Y):c.6343G>T (p.Gly2115Cys)
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004933.3(CDH15):c.160G>T (p.Val54Leu)
NM_005068.3(SIM1):c.*1447TG[4] rs886060892
NM_005068.3(SIM1):c.-200del rs146022425
NM_005411.5(SFTPA1):c.292G>A (p.Gly98Arg) rs1589239722
NM_005573.4(LMNB1):c.*189T>G rs1752249694
NM_005573.4(LMNB1):c.*629G>A rs761208282
NM_005573.4(LMNB1):c.*629G>C rs761208282
NM_005573.4(LMNB1):c.*631G>A rs569902214
NM_005573.4(LMNB1):c.*634A>G rs1382551348
NM_005573.4(LMNB1):c.-159C>G rs886059857
NM_005573.4(LMNB1):c.-76G>T rs1371898314
NM_005573.4(LMNB1):c.1387-3T>C rs886059859
NM_005573.4(LMNB1):c.227C>T (p.Thr76Ile)
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys)
NM_005573.4(LMNB1):c.916C>T (p.Gln306Ter)
NM_005573.4(LMNB1):c.987T>C (p.Ala329=) rs1751792373
NM_005634.3(SOX3):c.64C>G (p.Arg22Gly)
NM_006940.6(SOX5):c.1017G>A (p.Gln339=) rs2138723102
NM_006940.6(SOX5):c.1050G>C (p.Gln350His) rs1566239985
NM_006940.6(SOX5):c.1075G>A (p.Gly359Ser) rs754590341
NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)
NM_006940.6(SOX5):c.1280G>T (p.Gly427Val) rs780885506
NM_006940.6(SOX5):c.1292C>T (p.Ala431Val)
NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)
NM_006940.6(SOX5):c.1343-4733C>T rs1947477250
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) rs1341736288
NM_006940.6(SOX5):c.1864G>A (p.Asp622Asn)
NM_006940.6(SOX5):c.211T>C (p.Ser71Pro) rs2097171827
NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)
NM_006940.6(SOX5):c.2283A>C (p.Gln761His)
NM_006940.6(SOX5):c.251C>T (p.Thr84Ile) rs772035716
NM_006940.6(SOX5):c.291del (p.Met98fs)
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
NM_006940.6(SOX5):c.353G>T (p.Arg118Leu) rs1217393451
NM_006940.6(SOX5):c.576C>T (p.Pro192=)
NM_006940.6(SOX5):c.5T>G (p.Leu2Arg)
NM_006940.6(SOX5):c.616A>G (p.Ile206Val) rs2093775713
NM_006940.6(SOX5):c.693T>G (p.Ile231Met)
NM_006940.6(SOX5):c.798G>T (p.Gln266His) rs2093521806
NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala) rs1224542564
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) rs1711880083
NM_014679.5(CEP57):c.1000A>G (p.Lys334Glu) rs2135373567
NM_014679.5(CEP57):c.1003C>G (p.Gln335Glu)
NM_014679.5(CEP57):c.1021G>A (p.Gly341Ser) rs1862818339
NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr) rs527528444
NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro) rs759919170
NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe) rs1555053893
NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser) rs202115720
NM_014679.5(CEP57):c.1068T>G (p.Ile356Met)
NM_014679.5(CEP57):c.1075G>A (p.Glu359Lys) rs781248377
NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu) rs1862823036
NM_014679.5(CEP57):c.1099T>A (p.Leu367Ile) rs759922227
NM_014679.5(CEP57):c.1127+3G>A rs2135374408
NM_014679.5(CEP57):c.1127+5G>A
NM_014679.5(CEP57):c.1128T>C (p.Phe376=)
NM_014679.5(CEP57):c.1147A>G (p.Lys383Glu)
NM_014679.5(CEP57):c.1163C>T (p.Ser388Leu) rs778871999
NM_014679.5(CEP57):c.1165C>G (p.Pro389Ala)
NM_014679.5(CEP57):c.1165C>T (p.Pro389Ser) rs1590960094
NM_014679.5(CEP57):c.1187A>G (p.Lys396Arg) rs2135378752
NM_014679.5(CEP57):c.11C>G (p.Ala4Gly) rs563708574
NM_014679.5(CEP57):c.1208C>T (p.Ala403Val) rs898167932
NM_014679.5(CEP57):c.1212A>C (p.Leu404Phe) rs1414836328
NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys) rs1862894107
NM_014679.5(CEP57):c.1231A>G (p.Lys411Glu) rs2135378928
NM_014679.5(CEP57):c.1234G>A (p.Ala412Thr)
NM_014679.5(CEP57):c.1255C>T (p.Arg419Ter)
NM_014679.5(CEP57):c.1263C>A (p.Tyr421Ter)
NM_014679.5(CEP57):c.1267G>A (p.Ala423Thr)
NM_014679.5(CEP57):c.1273-7G>A rs1328841524
NM_014679.5(CEP57):c.1281_1295del (p.425LEKQK[1]) rs767882667
NM_014679.5(CEP57):c.1282C>G (p.Gln428Glu) rs2135383836
NM_014679.5(CEP57):c.1286dup (p.Leu430fs) rs1862984152
NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu) rs550796220
NM_014679.5(CEP57):c.1296G>C (p.Lys432Asn)
NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del) rs761197192
NM_014679.5(CEP57):c.1301A>C (p.Lys434Thr)
NM_014679.5(CEP57):c.131C>T (p.Pro44Leu) rs2135259624
NM_014679.5(CEP57):c.1325del (p.Lys442fs)
NM_014679.5(CEP57):c.1331T>C (p.Leu444Pro)
NM_014679.5(CEP57):c.1334A>G (p.Asp445Gly) rs748485985
NM_014679.5(CEP57):c.1339G>A (p.Glu447Lys) rs756553344
NM_014679.5(CEP57):c.1342_1362del (p.Arg448_Ser454del)
NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly) rs1395763725
NM_014679.5(CEP57):c.1357_1362del (p.Arg453_Ser454del)
NM_014679.5(CEP57):c.1358G>A (p.Arg453His)
NM_014679.5(CEP57):c.1363G>A (p.Gly455Arg)
NM_014679.5(CEP57):c.1364G>A (p.Gly455Glu) rs1565336775
NM_014679.5(CEP57):c.1387A>G (p.Lys463Glu)
NM_014679.5(CEP57):c.1396A>G (p.Met466Val)
NM_014679.5(CEP57):c.1406G>A (p.Arg469Lys)
NM_014679.5(CEP57):c.1421_1430del (p.Arg474fs) rs1477051347
NM_014679.5(CEP57):c.142A>T (p.Ser48Cys)
NM_014679.5(CEP57):c.1430dup (p.Asn477fs)
NM_014679.5(CEP57):c.1433T>A (p.Leu478His) rs1862992904
NM_014679.5(CEP57):c.1450A>C (p.Met484Leu) rs930693151
NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys) rs1862993704
NM_014679.5(CEP57):c.1459A>G (p.Ile487Val)
NM_014679.5(CEP57):c.1463A>G (p.Gln488Arg)
NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser) rs1050934936
NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn) rs753006983
NM_014679.5(CEP57):c.148C>A (p.Leu50Ile)
NM_014679.5(CEP57):c.152G>T (p.Arg51Leu)
NM_014679.5(CEP57):c.163A>G (p.Ser55Gly)
NM_014679.5(CEP57):c.185C>T (p.Pro62Leu) rs2135260052
NM_014679.5(CEP57):c.191G>A (p.Ser64Asn)
NM_014679.5(CEP57):c.195C>T (p.Asn65=)
NM_014679.5(CEP57):c.202+6C>T rs1185295732
NM_014679.5(CEP57):c.205A>G (p.Ile69Val) rs1862131344
NM_014679.5(CEP57):c.207A>G (p.Ile69Met)
NM_014679.5(CEP57):c.20C>T (p.Ser7Phe)
NM_014679.5(CEP57):c.215C>T (p.Ala72Val)
NM_014679.5(CEP57):c.217C>T (p.Leu73Phe) rs1862131809
NM_014679.5(CEP57):c.256G>C (p.Glu86Gln)
NM_014679.5(CEP57):c.263T>C (p.Ile88Thr) rs1862134368
NM_014679.5(CEP57):c.274G>A (p.Glu92Lys)
NM_014679.5(CEP57):c.274G>C (p.Glu92Gln)
NM_014679.5(CEP57):c.292T>C (p.Ser98Pro) rs1862135682
NM_014679.5(CEP57):c.297A>T (p.Arg99Ser)
NM_014679.5(CEP57):c.29C>T (p.Ser10Phe) rs752283181
NM_014679.5(CEP57):c.305T>C (p.Ile102Thr)
NM_014679.5(CEP57):c.32G>T (p.Gly11Val) rs2135220118
NM_014679.5(CEP57):c.335T>A (p.Ile112Lys) rs1296533991
NM_014679.5(CEP57):c.341A>G (p.Glu114Gly)
NM_014679.5(CEP57):c.341A>T (p.Glu114Val)
NM_014679.5(CEP57):c.347A>G (p.Glu116Gly) rs2135318947
NM_014679.5(CEP57):c.35C>T (p.Ser12Phe)
NM_014679.5(CEP57):c.365A>C (p.Glu122Ala) rs758749076
NM_014679.5(CEP57):c.378T>A (p.Asn126Lys) rs1233148579
NM_014679.5(CEP57):c.381A>C (p.Gln127His)
NM_014679.5(CEP57):c.382+6T>C
NM_014679.5(CEP57):c.391T>A (p.Ser131Thr)
NM_014679.5(CEP57):c.39C>G (p.His13Gln) rs531068389
NM_014679.5(CEP57):c.402A>C (p.Leu134Phe)
NM_014679.5(CEP57):c.413A>G (p.Asn138Ser)
NM_014679.5(CEP57):c.421A>C (p.Asn141His)
NM_014679.5(CEP57):c.422A>T (p.Asn141Ile)
NM_014679.5(CEP57):c.424C>A (p.Leu142Ile)
NM_014679.5(CEP57):c.448A>T (p.Met150Leu) rs1392775846
NM_014679.5(CEP57):c.44C>T (p.Ser15Leu)
NM_014679.5(CEP57):c.45+11_45+12insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCAG
NM_014679.5(CEP57):c.461T>C (p.Ile154Thr) rs889087291
NM_014679.5(CEP57):c.486A>G (p.Thr162=) rs2135321587
NM_014679.5(CEP57):c.487T>C (p.Ser163Pro)
NM_014679.5(CEP57):c.48C>A (p.Asn16Lys)
NM_014679.5(CEP57):c.499A>G (p.Lys167Glu)
NM_014679.5(CEP57):c.4G>A (p.Ala2Thr) rs878854985
NM_014679.5(CEP57):c.502C>A (p.Gln168Lys) rs1241266950
NM_014679.5(CEP57):c.503A>T (p.Gln168Leu) rs1433730979
NM_014679.5(CEP57):c.504+3A>G
NM_014679.5(CEP57):c.504+4A>G
NM_014679.5(CEP57):c.504+5G>A rs1252981393
NM_014679.5(CEP57):c.504+6T>G
NM_014679.5(CEP57):c.505-9_505-6del rs1565326346
NM_014679.5(CEP57):c.505G>A (p.Val169Ile)
NM_014679.5(CEP57):c.50G>C (p.Ser17Thr) rs1565311619
NM_014679.5(CEP57):c.515A>G (p.Glu172Gly) rs2135337872
NM_014679.5(CEP57):c.520G>C (p.Glu174Gln) rs1060501986
NM_014679.5(CEP57):c.526C>G (p.Gln176Glu)
NM_014679.5(CEP57):c.542A>G (p.His181Arg) rs1862363329
NM_014679.5(CEP57):c.544G>A (p.Val182Ile) rs2135338078
NM_014679.5(CEP57):c.545T>A (p.Val182Asp)
NM_014679.5(CEP57):c.552C>A (p.Ser184Arg) rs765801435
NM_014679.5(CEP57):c.559G>A (p.Glu187Lys) rs1862364446
NM_014679.5(CEP57):c.568G>A (p.Asp190Asn)
NM_014679.5(CEP57):c.56C>G (p.Ala19Gly)
NM_014679.5(CEP57):c.575T>C (p.Leu192Pro) rs1862365071
NM_014679.5(CEP57):c.599C>A (p.Thr200Asn) rs757212650
NM_014679.5(CEP57):c.599C>T (p.Thr200Ile)
NM_014679.5(CEP57):c.601A>G (p.Thr201Ala) rs2135338342
NM_014679.5(CEP57):c.605T>A (p.Met202Lys)
NM_014679.5(CEP57):c.61C>T (p.Pro21Ser)
NM_014679.5(CEP57):c.621+13G>A
NM_014679.5(CEP57):c.621+8C>T
NM_014679.5(CEP57):c.621+9A>G rs1472625294
NM_014679.5(CEP57):c.626A>C (p.Lys209Thr) rs1862408972
NM_014679.5(CEP57):c.628A>T (p.Met210Leu) rs374700509
NM_014679.5(CEP57):c.652C>T (p.His218Tyr)
NM_014679.5(CEP57):c.680T>C (p.Met227Thr) rs1338577560
NM_014679.5(CEP57):c.684A>C (p.Gln228His) rs2135342248
NM_014679.5(CEP57):c.698A>T (p.Glu233Val)
NM_014679.5(CEP57):c.69G>T (p.Arg23Ser)
NM_014679.5(CEP57):c.704A>G (p.Gln235Arg) rs2135351781
NM_014679.5(CEP57):c.707C>A (p.Thr236Asn)
NM_014679.5(CEP57):c.718A>G (p.Thr240Ala)
NM_014679.5(CEP57):c.723T>G (p.Asn241Lys) rs76411609
NM_014679.5(CEP57):c.742A>G (p.Lys248Glu) rs2135352017
NM_014679.5(CEP57):c.746C>T (p.Ala249Val) rs1862532841
NM_014679.5(CEP57):c.755G>T (p.Cys252Phe)
NM_014679.5(CEP57):c.763A>T (p.Asn255Tyr)
NM_014679.5(CEP57):c.767C>T (p.Ala256Val) rs2135352101
NM_014679.5(CEP57):c.781A>G (p.Lys261Glu)
NM_014679.5(CEP57):c.784A>C (p.Lys262Gln)
NM_014679.5(CEP57):c.787A>C (p.Lys263Gln) rs1555052344
NM_014679.5(CEP57):c.808-11_808-7del
NM_014679.5(CEP57):c.812G>C (p.Ser271Thr)
NM_014679.5(CEP57):c.81C>A (p.Ser27Arg)
NM_014679.5(CEP57):c.821A>G (p.Asn274Ser) rs2135354357
NM_014679.5(CEP57):c.832G>A (p.Ala278Thr)
NM_014679.5(CEP57):c.833C>T (p.Ala278Val) rs1862559102
NM_014679.5(CEP57):c.836_838del (p.Gln279del) rs1379170788
NM_014679.5(CEP57):c.841C>T (p.His281Tyr) rs1862559486
NM_014679.5(CEP57):c.846T>C (p.Tyr282=) rs775590763
NM_014679.5(CEP57):c.858G>T (p.Leu286Phe) rs1308139720
NM_014679.5(CEP57):c.862G>A (p.Asp288Asn)
NM_014679.5(CEP57):c.866T>C (p.Met289Thr)
NM_014679.5(CEP57):c.86T>G (p.Val29Gly)
NM_014679.5(CEP57):c.880G>A (p.Gly294Arg) rs2135354636
NM_014679.5(CEP57):c.88C>T (p.Arg30Trp) rs749693319
NM_014679.5(CEP57):c.896C>A (p.Pro299His) rs776778777
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro) rs577173144
NM_014679.5(CEP57):c.8C>T (p.Ala3Val) rs1351785176
NM_014679.5(CEP57):c.905C>A (p.Ala302Asp)
NM_014679.5(CEP57):c.908T>C (p.Val303Ala)
NM_014679.5(CEP57):c.911T>C (p.Val304Ala)
NM_014679.5(CEP57):c.923A>G (p.Gln308Arg) rs2135373107
NM_014679.5(CEP57):c.952A>G (p.Ser318Gly)
NM_014679.5(CEP57):c.974G>A (p.Arg325Gln) rs1047306549
NM_014679.5(CEP57):c.974G>C (p.Arg325Pro)
NM_014679.5(CEP57):c.983A>G (p.Asn328Ser)
NM_014679.5(CEP57):c.998C>T (p.Ala333Val)
NM_015570.4(AUTS2):c.3169G>A (p.Gly1057Ser) rs1057522609
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met) rs199748546
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu) rs2039707751
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr) rs2040070431
NM_016111.4(TELO2):c.340A>C (p.Ser114Arg)
NM_016111.4(TELO2):c.490C>T (p.Pro164Ser)
NM_016111.4(TELO2):c.925C>T (p.Arg309Trp)
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro) rs750187494
NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)
NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)
NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)
NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp) rs1841460217
NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)
NM_016628.5(WAC):c.1877T>A (p.Ile626Lys)
NM_016628.5(WAC):c.275-22319G>T rs2132485043
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016628.5(WAC):c.460G>A (p.Val154Ile) rs2132669331
NM_016628.5(WAC):c.469T>C (p.Trp157Arg)
NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)
NM_018328.4:c.-925+35305_-557+13791del
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2710CA[2] rs886048186
NM_019040.5(ELP4):c.*3703_*3705del rs886048189
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_019066.5(MAGEL2):c.1051G>A (p.Val351Ile)
NM_019066.5(MAGEL2):c.1112C>T (p.Thr371Ile)
NM_019066.5(MAGEL2):c.113G>A (p.Arg38Gln)
NM_019066.5(MAGEL2):c.1171A>T (p.Thr391Ser)
NM_019066.5(MAGEL2):c.1188G>A (p.Trp396Ter) rs1890410630
NM_019066.5(MAGEL2):c.1248C>T (p.Ile416=)
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg) rs2140716697
NM_019066.5(MAGEL2):c.1276G>A (p.Gly426Ser) rs1890407784
NM_019066.5(MAGEL2):c.1298C>A (p.Ala433Asp)
NM_019066.5(MAGEL2):c.1321C>T (p.Pro441Ser)
NM_019066.5(MAGEL2):c.1430C>G (p.Pro477Arg)
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val) rs2140716042
NM_019066.5(MAGEL2):c.16A>G (p.Lys6Glu)
NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) rs1064797195
NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)
NM_019066.5(MAGEL2):c.1766C>A (p.Ala589Asp)
NM_019066.5(MAGEL2):c.1772A>G (p.Lys591Arg)
NM_019066.5(MAGEL2):c.1784C>T (p.Pro595Leu)
NM_019066.5(MAGEL2):c.1895C>A (p.Ala632Asp)
NM_019066.5(MAGEL2):c.1963T>C (p.Ser655Pro)
NM_019066.5(MAGEL2):c.1972G>A (p.Ala658Thr) rs1890385864
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.2107G>C (p.Ala703Pro)
NM_019066.5(MAGEL2):c.2119C>T (p.Pro707Ser)
NM_019066.5(MAGEL2):c.2120C>T (p.Pro707Leu)
NM_019066.5(MAGEL2):c.2147C>T (p.Thr716Ile)
NM_019066.5(MAGEL2):c.2170_2232dup (p.Ser724_Ala744dup) rs1566784117
NM_019066.5(MAGEL2):c.220G>C (p.Ala74Pro)
NM_019066.5(MAGEL2):c.2212_2232dup (p.Ser738_Ala744dup) rs768384701
NM_019066.5(MAGEL2):c.2296C>G (p.Arg766Gly)
NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser) rs1343066533
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
NM_019066.5(MAGEL2):c.2701C>T (p.His901Tyr)
NM_019066.5(MAGEL2):c.272C>T (p.Pro91Leu)
NM_019066.5(MAGEL2):c.2745G>T (p.Glu915Asp)
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp) rs2140713261
NM_019066.5(MAGEL2):c.2839G>C (p.Glu947Gln) rs1890360315
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
NM_019066.5(MAGEL2):c.3035T>A (p.Val1012Glu)
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) rs1267004913
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser) rs1357977229
NM_019066.5(MAGEL2):c.353C>T (p.Pro118Leu) rs1131691985
NM_019066.5(MAGEL2):c.3633C>A (p.Ser1211Arg)
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr) rs779840896
NM_019066.5(MAGEL2):c.3720C>A (p.His1240Gln)
NM_019066.5(MAGEL2):c.3727A>G (p.Thr1243Ala)
NM_019066.5(MAGEL2):c.451C>A (p.His151Asn)
NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)
NM_019066.5(MAGEL2):c.48G>T (p.Glu16Asp) rs2140719597
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val) rs2140718561
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) rs779748148
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
NM_019066.5(MAGEL2):c.626T>C (p.Met209Thr)
NM_019066.5(MAGEL2):c.877G>A (p.Gly293Ser) rs983547801
NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
NM_022039.4(FBXW4):c.*381C>G rs2063775084
NM_022039.4(FBXW4):c.1170G>T (p.Gly390=) rs2064322238
NM_022039.4(FBXW4):c.1302-9C>T rs771930157
NM_022039.4(FBXW4):c.1473C>T (p.His491=) rs147424741
NM_022039.4(FBXW4):c.316G>T (p.Ala106Ser) rs2064658916
NM_022039.4(FBXW4):c.409A>G (p.Arg137Gly) rs886046645
NM_022039.4(FBXW4):c.437G>A (p.Trp146Ter) rs886046644
NM_022039.4(FBXW4):c.493G>A (p.Glu165Lys) rs886046643
NM_022039.4(FBXW4):c.507G>A (p.Ala169=) rs1404824736
NM_022039.4(FBXW4):c.715G>A (p.Gly239Ser) rs759941552
NM_022039.4(FBXW4):c.923G>A (p.Arg308His) rs771654851
NM_022455.5(NSD1):c.*216CCAA[1] rs886060444
NM_022455.5(NSD1):c.*4609_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611dup rs60995782
NM_022455.5(NSD1):c.*4611dup rs60995782
NM_022455.5(NSD1):c.*4612del rs886060465
NM_022455.5(NSD1):c.*565del rs886060446
NM_022455.5(NSD1):c.*839dup rs886060447
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys) rs1761727286
NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala)
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu) rs1762710997
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg) rs1762711811
NM_022455.5(NSD1):c.1159G>C (p.Glu387Gln) rs1374361789
NM_022455.5(NSD1):c.1171C>G (p.Gln391Glu)
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)
NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu) rs367809750
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His) rs1763178149
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr) rs1763180633
NM_022455.5(NSD1):c.1325G>C (p.Cys442Ser)
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg) rs757392008
NM_022455.5(NSD1):c.1363A>G (p.Met455Val) rs546116718
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu) rs775730406
NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile) rs776330654
NM_022455.5(NSD1):c.1414C>T (p.Leu472Phe) rs371775975
NM_022455.5(NSD1):c.1428G>A (p.Leu476=) rs587784072
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter) rs1336273625
NM_022455.5(NSD1):c.1487A>G (p.Lys496Arg)
NM_022455.5(NSD1):c.1606A>C (p.Asn536His) rs1554188985
NM_022455.5(NSD1):c.1607A>G (p.Asn536Ser)
NM_022455.5(NSD1):c.1664C>T (p.Ala555Val) rs925398929
NM_022455.5(NSD1):c.1687A>C (p.Thr563Pro) rs1763212012
NM_022455.5(NSD1):c.1699A>G (p.Ser567Gly)
NM_022455.5(NSD1):c.1729A>T (p.Thr577Ser) rs370153971
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val)
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)
NM_022455.5(NSD1):c.1786G>C (p.Gly596Arg)
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)
NM_022455.5(NSD1):c.1820A>G (p.Asn607Ser) rs1265667423
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)
NM_022455.5(NSD1):c.1871T>C (p.Ile624Thr)
NM_022455.5(NSD1):c.1879G>A (p.Gly627Ser) rs1449506408
NM_022455.5(NSD1):c.1906A>G (p.Ile636Val) rs1410310481
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala) rs1763234813
NM_022455.5(NSD1):c.199T>A (p.Ser67Thr)
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.5(NSD1):c.2025G>A (p.Met675Ile)
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg) rs1281302772
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp) rs773782115
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly) rs1581318727
NM_022455.5(NSD1):c.2215_2217del (p.Val739del) rs1763260903
NM_022455.5(NSD1):c.2231C>T (p.Ser744Leu) rs1581319591
NM_022455.5(NSD1):c.2240C>T (p.Thr747Ile)
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile) rs139085502
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr) rs1763266375
NM_022455.5(NSD1):c.2290G>C (p.Glu764Gln)
NM_022455.5(NSD1):c.2300TAA[1] (p.Ile768del)
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
NM_022455.5(NSD1):c.2352_2353delinsAA (p.Pro785Thr) rs1763273634
NM_022455.5(NSD1):c.2362C>G (p.Arg788Gly)
NM_022455.5(NSD1):c.2416A>G (p.Ile806Val) rs1562208925
NM_022455.5(NSD1):c.2428T>C (p.Cys810Arg)
NM_022455.5(NSD1):c.2429G>T (p.Cys810Phe) rs1763281290
NM_022455.5(NSD1):c.243G>C (p.Met81Ile) rs886042530
NM_022455.5(NSD1):c.2564C>T (p.Ala855Val) rs2149845759
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe)
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr) rs2095343853
NM_022455.5(NSD1):c.2912G>A (p.Gly971Asp) rs371226812
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp) rs587784091
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe) rs1465577289
NM_022455.5(NSD1):c.29G>A (p.Arg10Lys) rs1581089074
NM_022455.5(NSD1):c.3002A>G (p.Asp1001Gly)
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
NM_022455.5(NSD1):c.3029A>G (p.Lys1010Arg)
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
NM_022455.5(NSD1):c.3114G>T (p.Met1038Ile) rs1581324163
NM_022455.5(NSD1):c.3238G>A (p.Gly1080Ser)
NM_022455.5(NSD1):c.3275A>G (p.Gln1092Arg)
NM_022455.5(NSD1):c.3331G>T (p.Asp1111Tyr) rs151165525
NM_022455.5(NSD1):c.3335G>A (p.Ser1112Asn)
NM_022455.5(NSD1):c.3344A>G (p.Lys1115Arg)
NM_022455.5(NSD1):c.334G>T (p.Val112Phe) rs1756231832
NM_022455.5(NSD1):c.340A>C (p.Thr114Pro) rs749444972
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile) rs1763367854
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu) rs1180409864
NM_022455.5(NSD1):c.3440A>G (p.Glu1147Gly)
NM_022455.5(NSD1):c.3473A>G (p.Lys1158Arg)
NM_022455.5(NSD1):c.3525C>G (p.Asn1175Lys)
NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.5(NSD1):c.3577A>G (p.Ser1193Gly)
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr) rs372004424
NM_022455.5(NSD1):c.3682G>C (p.Asp1228His) rs1161564727
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val) rs1581327291
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn)
NM_022455.5(NSD1):c.3837G>T (p.Lys1279Asn)
NM_022455.5(NSD1):c.3869A>C (p.Gln1290Pro) rs1562242250
NM_022455.5(NSD1):c.3922-9T>A
NM_022455.5(NSD1):c.3949C>G (p.Leu1317Val)
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) rs750684515
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly) rs587784108
NM_022455.5(NSD1):c.3994G>C (p.Glu1332Gln)
NM_022455.5(NSD1):c.4091G>T (p.Gly1364Val) rs1554195876
NM_022455.5(NSD1):c.4118T>C (p.Leu1373Ser) rs1554195885
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
NM_022455.5(NSD1):c.4205G>A (p.Ser1402Asn)
NM_022455.5(NSD1):c.4259C>G (p.Pro1420Arg)
NM_022455.5(NSD1):c.4273A>C (p.Lys1425Gln)
NM_022455.5(NSD1):c.4301A>G (p.Lys1434Arg)
NM_022455.5(NSD1):c.4302+3A>T
NM_022455.5(NSD1):c.4306T>C (p.Tyr1436His) rs1435199225
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu) rs587784113
NM_022455.5(NSD1):c.4378+7A>G rs587784116
NM_022455.5(NSD1):c.4398C>G (p.Asp1466Glu)
NM_022455.5(NSD1):c.4403C>T (p.Pro1468Leu)
NM_022455.5(NSD1):c.4428T>A (p.His1476Gln) rs1581430053
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
NM_022455.5(NSD1):c.4521_4522delinsTT (p.Ala1508Ser) rs1766449552
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp) rs1766450095
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln) rs2149899575
NM_022455.5(NSD1):c.4552G>A (p.Gly1518Ser)
NM_022455.5(NSD1):c.4561C>A (p.His1521Asn) rs1401885898
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4574T>C (p.Met1525Thr) rs1060501491
NM_022455.5(NSD1):c.4583C>T (p.Ser1528Phe) rs1581433960
NM_022455.5(NSD1):c.4591A>G (p.Met1531Val)
NM_022455.5(NSD1):c.4604G>A (p.Arg1535His)
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly) rs1562259810
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser) rs1755989003
NM_022455.5(NSD1):c.4732A>G (p.Arg1578Gly) rs2149904592
NM_022455.5(NSD1):c.4764A>G (p.Thr1588=)
NM_022455.5(NSD1):c.4766-2A>C
NM_022455.5(NSD1):c.4777T>A (p.Cys1593Ser) rs1060501495
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser) rs1554199383
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn) rs1756521704
NM_022455.5(NSD1):c.4856G>A (p.Cys1619Tyr) rs1554199411
NM_022455.5(NSD1):c.4865A>G (p.Lys1622Arg)
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr) rs1064796568
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
NM_022455.5(NSD1):c.4961C>G (p.Ser1654Cys)
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln) rs1756860552
NM_022455.5(NSD1):c.4988G>A (p.Arg1663His) rs1562269357
NM_022455.5(NSD1):c.5007C>G (p.His1669Gln) rs146414176
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala)
NM_022455.5(NSD1):c.5066G>T (p.Cys1689Phe) rs1756866850
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5120T>A (p.Val1707Asp) rs2149918094
NM_022455.5(NSD1):c.5121T>C (p.Val1707=) rs1756870315
NM_022455.5(NSD1):c.5146+2dup rs1581468671
NM_022455.5(NSD1):c.5154C>G (p.Ser1718Arg) rs1043343803
NM_022455.5(NSD1):c.5180C>A (p.Ala1727Asp)
NM_022455.5(NSD1):c.524C>T (p.Thr175Ile) rs1554167548
NM_022455.5(NSD1):c.5273A>G (p.Glu1758Gly) rs1581491894
NM_022455.5(NSD1):c.5281T>C (p.Trp1761Arg) rs1060501489
NM_022455.5(NSD1):c.5289A>T (p.Lys1763Asn) rs1135401952
NM_022455.5(NSD1):c.529G>A (p.Asp177Asn)
NM_022455.5(NSD1):c.5310G>C (p.Trp1770Cys) rs1060501496
NM_022455.5(NSD1):c.5408A>G (p.Asp1803Gly) rs2149934442
NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn) rs1757805156
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val) rs2127241862
NM_022455.5(NSD1):c.557A>T (p.Glu186Val) rs1756255240
NM_022455.5(NSD1):c.5612A>G (p.Lys1871Arg)
NM_022455.5(NSD1):c.569A>T (p.Asn190Ile)
NM_022455.5(NSD1):c.56C>T (p.Pro19Leu) rs1756207246
NM_022455.5(NSD1):c.5710C>A (p.Pro1904Thr)
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr) rs1554204110
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5757G>T (p.Glu1919Asp) rs528069420
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr) rs1758804006
NM_022455.5(NSD1):c.5779G>C (p.Ala1927Pro) rs1554204128
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His) rs1391504793
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys) rs1758806559
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro) rs587784159
NM_022455.5(NSD1):c.58G>T (p.Val20Leu) rs377302741
NM_022455.5(NSD1):c.5975A>G (p.Asp1992Gly)
NM_022455.5(NSD1):c.6009+3A>C rs2127261070
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val) rs1581535417
NM_022455.5(NSD1):c.6037G>A (p.Gly2013Arg) rs2127262871
NM_022455.5(NSD1):c.6063T>A (p.His2021Gln)
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly) rs1554204958
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) rs2127263139
NM_022455.5(NSD1):c.6128T>C (p.Phe2043Ser) rs2127263182
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.6176A>G (p.Asn2059Ser)
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) rs1759549616
NM_022455.5(NSD1):c.6258G>T (p.Lys2086Asn) rs1581548127
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly) rs1562305665
NM_022455.5(NSD1):c.6397T>C (p.Cys2133Arg)
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser) rs587784195
NM_022455.5(NSD1):c.641C>T (p.Thr214Ile) rs1208967470
NM_022455.5(NSD1):c.6454C>G (p.Arg2152Gly) rs587784199
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.5(NSD1):c.6464-1G>A rs1760055914
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer) rs1562098870
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6504_6512del (p.Lys2169_Ala2171del)
NM_022455.5(NSD1):c.6524G>A (p.Cys2175Tyr) rs1581562963
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr)
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del) rs1756266305
NM_022455.5(NSD1):c.661G>T (p.Ala221Ser)
NM_022455.5(NSD1):c.6620C>T (p.Pro2207Leu)
NM_022455.5(NSD1):c.6625G>T (p.Gly2209Trp) rs1760067330
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser) rs2127279586
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val) rs587784212
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys) rs587784213
NM_022455.5(NSD1):c.6654C>G (p.Ile2218Met)
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) rs755013078
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro) rs1760072488
NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=) rs587784215
NM_022455.5(NSD1):c.6760CCT[1] (p.Pro2255del)
NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu)
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr) rs2127280285
NM_022455.5(NSD1):c.6889A>G (p.Arg2297Gly)
NM_022455.5(NSD1):c.6905C>T (p.Ser2302Leu)
NM_022455.5(NSD1):c.6920A>C (p.Gln2307Pro) rs2127280443
NM_022455.5(NSD1):c.6971G>C (p.Gly2324Ala)
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu) rs1581564675
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe) rs1319472971
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu) rs1756273326
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala) rs765876148
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala) rs1416255762
NM_022455.5(NSD1):c.7220C>G (p.Thr2407Ser)
NM_022455.5(NSD1):c.7321C>G (p.Pro2441Ala)
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr) rs200115665
NM_022455.5(NSD1):c.7454T>C (p.Val2485Ala)
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) rs398124385
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile) rs1005975383
NM_022455.5(NSD1):c.7554AGC[2] (p.Ala2521del)
NM_022455.5(NSD1):c.7595C>T (p.Ser2532Leu)
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val) rs1760151289
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys) rs1180593710
NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr) rs1450153384
NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg)
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) rs1756280868
NM_022455.5(NSD1):c.7700C>G (p.Pro2567Arg)
NM_022455.5(NSD1):c.7706C>G (p.Pro2569Arg)
NM_022455.5(NSD1):c.7748del (p.Met2583fs) rs1562311573
NM_022455.5(NSD1):c.7768C>G (p.Pro2590Ala)
NM_022455.5(NSD1):c.7778C>A (p.Ala2593Asp)
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
NM_022455.5(NSD1):c.788_789del (p.Thr263fs) rs1756282703
NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val) rs1371700950
NM_022455.5(NSD1):c.793A>G (p.Ile265Val) rs771587260
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg) rs1554208207
NM_022455.5(NSD1):c.805G>A (p.Glu269Lys) rs751787444
NM_022455.5(NSD1):c.890G>C (p.Gly297Ala) rs1709968423
NM_022455.5(NSD1):c.922C>G (p.Pro308Ala)
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
NM_022455.5(NSD1):c.97G>A (p.Gly33Ser)
NM_024426.6(WT1):c.*1021GT[14] rs58549495
NM_024426.6(WT1):c.*1021GT[15] rs58549495
NM_024426.6(WT1):c.*1021GT[18] rs58549495
NM_024426.6(WT1):c.*1021GT[19] rs58549495
NM_024426.6(WT1):c.*1021GT[20] rs58549495
NM_024426.6(WT1):c.*1058G>T rs886048211
NM_024426.6(WT1):c.*269G>T rs886048225
NM_024426.6(WT1):c.*354G>T rs886048224
NM_024426.6(WT1):c.*366C>A rs886048223
NM_024426.6(WT1):c.*393G>T rs886048222
NM_024426.6(WT1):c.*685G>T rs886048218
NM_024426.6(WT1):c.*707C>A rs886048217
NM_024426.6(WT1):c.*741G>T rs886048216
NM_024426.6(WT1):c.*768A>C rs886048215
NM_024426.6(WT1):c.*841C>A rs886048213
NM_024426.6(WT1):c.-31G>T rs886048234
NM_024426.6(WT1):c.-82A>C rs886048236
NM_024426.6(WT1):c.-86T>C rs886048237
NM_024426.6(WT1):c.-90T>C rs886048238
NM_024426.6(WT1):c.-94G>C rs886048239
NM_024426.6(WT1):c.1000A>G (p.Thr334Ala)
NM_024426.6(WT1):c.1004A>G (p.Glu335Gly) rs2133032382
NM_024426.6(WT1):c.1012A>C (p.Ser338Arg) rs1852674776
NM_024426.6(WT1):c.1012A>G (p.Ser338Gly) rs1852674776
NM_024426.6(WT1):c.1015A>G (p.Asn339Asp) rs1852674511
NM_024426.6(WT1):c.1016+6T>C
NM_024426.6(WT1):c.1016A>G (p.Asn339Ser)
NM_024426.6(WT1):c.1017-1G>A rs868047507
NM_024426.6(WT1):c.1017-2A>G
NM_024426.6(WT1):c.1017-3C>T rs1554940545
NM_024426.6(WT1):c.1017C>G (p.Asn339Lys)
NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg) rs1564975891
NM_024426.6(WT1):c.1022G>A (p.Ser341Asn) rs371021920
NM_024426.6(WT1):c.1028G>A (p.Gly343Glu) rs2132959011
NM_024426.6(WT1):c.1031A>G (p.Tyr344Cys) rs1852103005
NM_024426.6(WT1):c.1035_1036delinsAT (p.Ser346Cys) rs2132958801
NM_024426.6(WT1):c.1038C>G (p.Ser346Arg) rs750018485
NM_024426.6(WT1):c.1039G>A (p.Asp347Asn) rs267602851
NM_024426.6(WT1):c.1043A>G (p.Asn348Ser)
NM_024426.6(WT1):c.1049C>G (p.Thr350Arg)
NM_024426.6(WT1):c.1049C>T (p.Thr350Ile)
NM_024426.6(WT1):c.1051A>G (p.Thr351Ala) rs2132958406
NM_024426.6(WT1):c.1052C>A (p.Thr351Lys)
NM_024426.6(WT1):c.1052C>T (p.Thr351Met) rs761627098
NM_024426.6(WT1):c.1054C>G (p.Pro352Ala)
NM_024426.6(WT1):c.1057A>G (p.Ile353Val) rs1554940527
NM_024426.6(WT1):c.105G>T (p.Gln35His)
NM_024426.6(WT1):c.1060C>T (p.Leu354Phe)
NM_024426.6(WT1):c.1067G>A (p.Gly356Glu) rs760654956
NM_024426.6(WT1):c.1069G>A (p.Ala357Thr)
NM_024426.6(WT1):c.1070C>A (p.Ala357Asp)
NM_024426.6(WT1):c.1072C>G (p.Gln358Glu) rs771117558
NM_024426.6(WT1):c.1073A>G (p.Gln358Arg) rs1554940518
NM_024426.6(WT1):c.1078A>G (p.Arg360Gly) rs1852099254
NM_024426.6(WT1):c.107A>T (p.Gln36Leu)
NM_024426.6(WT1):c.1082T>C (p.Ile361Thr) rs2132957665
NM_024426.6(WT1):c.1086C>G (p.His362Gln) rs1421853816
NM_024426.6(WT1):c.1087A>T (p.Thr363Ser)
NM_024426.6(WT1):c.1088C>A (p.Thr363Lys)
NM_024426.6(WT1):c.1088C>G (p.Thr363Arg) rs1852098454
NM_024426.6(WT1):c.1088C>T (p.Thr363Met)
NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn) rs2132957418
NM_024426.6(WT1):c.1093G>A (p.Gly365Ser)
NM_024426.6(WT1):c.1093G>C (p.Gly365Arg)
NM_024426.6(WT1):c.1108A>T (p.Ile370Phe)
NM_024426.6(WT1):c.1109T>G (p.Ile370Ser) rs1852096499
NM_024426.6(WT1):c.110G>A (p.Gly37Glu)
NM_024426.6(WT1):c.110G>C (p.Gly37Ala) rs1853477982
NM_024426.6(WT1):c.1112A>G (p.Gln371Arg) rs1852096219
NM_024426.6(WT1):c.1113+3G>A
NM_024426.6(WT1):c.1113+5G>C rs930795675
NM_024426.6(WT1):c.1114G>C (p.Asp372His)
NM_024426.6(WT1):c.1120C>G (p.Arg374Gly)
NM_024426.6(WT1):c.1121_1122delinsAG (p.Arg374Gln) rs2132942126
NM_024426.6(WT1):c.1122_1123inv (p.Arg375Cys)
NM_024426.6(WT1):c.1122_1124delinsGTA (p.Arg375Tyr)
NM_024426.6(WT1):c.1124G>C (p.Arg375Pro) rs554416372
NM_024426.6(WT1):c.1124G>T (p.Arg375Leu) rs554416372
NM_024426.6(WT1):c.1126G>A (p.Val376Met)
NM_024426.6(WT1):c.1127T>C (p.Val376Ala) rs1180529775
NM_024426.6(WT1):c.1129C>T (p.Pro377Ser)
NM_024426.6(WT1):c.112G>A (p.Val38Ile)
NM_024426.6(WT1):c.112G>T (p.Val38Phe) rs1229949294
NM_024426.6(WT1):c.1130C>A (p.Pro377His) rs1590339111
NM_024426.6(WT1):c.1139C>A (p.Ala380Asp) rs2132941654
NM_024426.6(WT1):c.1139C>T (p.Ala380Val) rs2132941654
NM_024426.6(WT1):c.1141C>G (p.Pro381Ala)
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
NM_024426.6(WT1):c.1143_1151dup (p.Val384_Arg385insThrLeuVal)
NM_024426.6(WT1):c.1144A>G (p.Thr382Ala) rs1851973152
NM_024426.6(WT1):c.1145C>T (p.Thr382Ile) rs2132941453
NM_024426.6(WT1):c.1154G>C (p.Arg385Pro) rs147241955
NM_024426.6(WT1):c.1154G>T (p.Arg385Leu) rs147241955
NM_024426.6(WT1):c.1157C>T (p.Ser386Leu)
NM_024426.6(WT1):c.1159G>A (p.Ala387Thr) rs1412336417
NM_024426.6(WT1):c.1162T>C (p.Ser388Pro) rs992930804
NM_024426.6(WT1):c.1163C>G (p.Ser388Cys)
NM_024426.6(WT1):c.1168A>G (p.Thr390Ala)
NM_024426.6(WT1):c.116G>C (p.Arg39Pro)
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
NM_024426.6(WT1):c.1173T>G (p.Ser391Arg)
NM_024426.6(WT1):c.1174G>A (p.Glu392Lys) rs1851970123
NM_024426.6(WT1):c.1180C>T (p.Arg394Cys) rs1564972874
NM_024426.6(WT1):c.1183C>A (p.Pro395Thr) rs267602850
NM_024426.6(WT1):c.1184C>T (p.Pro395Leu) rs1851969544
NM_024426.6(WT1):c.1188C>A (p.Phe396Leu) rs200539928
NM_024426.6(WT1):c.1189A>G (p.Met397Val)
NM_024426.6(WT1):c.118G>C (p.Asp40His) rs1853477193
NM_024426.6(WT1):c.118del (p.Asp40fs) rs2133107122
NM_024426.6(WT1):c.1190T>C (p.Met397Thr) rs2132940385
NM_024426.6(WT1):c.1190T>G (p.Met397Arg)
NM_024426.6(WT1):c.1191G>A (p.Met397Ile) rs2132940348
NM_024426.6(WT1):c.1192T>A (p.Cys398Ser) rs2132940315
NM_024426.6(WT1):c.1196C>G (p.Ala399Gly) rs1590338798
NM_024426.6(WT1):c.1196C>T (p.Ala399Val) rs1590338798
NM_024426.6(WT1):c.119A>C (p.Asp40Ala)
NM_024426.6(WT1):c.1202C>A (p.Pro401Gln)
NM_024426.6(WT1):c.1211A>G (p.Asn404Ser) rs748864758
NM_024426.6(WT1):c.1217G>A (p.Arg406Lys) rs1851967853
NM_024426.6(WT1):c.1218A>C (p.Arg406Ser) rs1554939793
NM_024426.6(WT1):c.1219T>C (p.Tyr407His)
NM_024426.6(WT1):c.121C>G (p.Pro41Ala) rs926668379
NM_024426.6(WT1):c.1249A>G (p.Ser417Gly)
NM_024426.6(WT1):c.1261A>G (p.Thr421Ala)
NM_024426.6(WT1):c.1261A>T (p.Thr421Ser)
NM_024426.6(WT1):c.1262C>G (p.Thr421Ser)
NM_024426.6(WT1):c.1264+3A>G
NM_024426.6(WT1):c.1264+6T>A rs1366602349
NM_024426.6(WT1):c.1265-18A>G
NM_024426.6(WT1):c.1274C>G (p.Pro425Arg) rs2132921474
NM_024426.6(WT1):c.127G>A (p.Gly43Ser)
NM_024426.6(WT1):c.127G>C (p.Gly43Arg)
NM_024426.6(WT1):c.127G>T (p.Gly43Cys) rs1166553415
NM_024426.6(WT1):c.1280A>C (p.Gln427Pro) rs1358408901
NM_024426.6(WT1):c.1285G>A (p.Asp429Asn)
NM_024426.6(WT1):c.1289T>G (p.Phe430Cys)
NM_024426.6(WT1):c.128G>T (p.Gly43Val)
NM_024426.6(WT1):c.1307G>A (p.Arg436Lys) rs2132920559
NM_024426.6(WT1):c.1313C>G (p.Ser438Cys) rs2132920415
NM_024426.6(WT1):c.1331A>G (p.Lys444Arg) rs1851852482
NM_024426.6(WT1):c.133T>G (p.Trp45Gly) rs1186470250
NM_024426.6(WT1):c.1341A>C (p.Gln447His) rs772822466
NM_024426.6(WT1):c.1344G>C (p.Arg448Ser)
NM_024426.6(WT1):c.1351A>T (p.Thr451Ser)
NM_024426.6(WT1):c.136G>A (p.Ala46Thr) rs886048233
NM_024426.6(WT1):c.136G>T (p.Ala46Ser) rs886048233
NM_024426.6(WT1):c.1373G>C (p.Cys458Ser) rs2132915129
NM_024426.6(WT1):c.1376A>G (p.Lys459Arg) rs1851834162
NM_024426.6(WT1):c.1379C>A (p.Thr460Asn)
NM_024426.6(WT1):c.1379C>T (p.Thr460Ile)
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln) rs1037084691
NM_024426.6(WT1):c.1408C>T (p.His470Tyr) rs1554939072
NM_024426.6(WT1):c.1424C>T (p.Thr475Ile)
NM_024426.6(WT1):c.1433A>T (p.His478Leu)
NM_024426.6(WT1):c.143T>C (p.Leu48Ser) rs1565002394
NM_024426.6(WT1):c.143T>G (p.Leu48Ter)
NM_024426.6(WT1):c.1447+3G>A rs2132913499
NM_024426.6(WT1):c.1448-3C>A rs904330511
NM_024426.6(WT1):c.1448-3C>T
NM_024426.6(WT1):c.1448-6C>G
NM_024426.6(WT1):c.1463G>A (p.Ser488Asn) rs267602849
NM_024426.6(WT1):c.1468C>T (p.Arg490Trp) rs1315549918
NM_024426.6(WT1):c.1474C>T (p.Pro492Ser) rs761360324
NM_024426.6(WT1):c.1477A>C (p.Ser493Arg) rs776256676
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn) rs763551837
NM_024426.6(WT1):c.1485G>T (p.Gln495His)
NM_024426.6(WT1):c.1496C>G (p.Ala499Gly) rs2132898997
NM_024426.6(WT1):c.1505A>G (p.Asp502Gly)
NM_024426.6(WT1):c.150del (p.Ala51fs) rs2133106747
NM_024426.6(WT1):c.1510T>G (p.Leu504Val)
NM_024426.6(WT1):c.1513G>A (p.Val505Ile)
NM_024426.6(WT1):c.1516C>T (p.Arg506Cys)
NM_024426.6(WT1):c.1517G>T (p.Arg506Leu) rs1851744303
NM_024426.6(WT1):c.1519del (p.His507fs)
NM_024426.6(WT1):c.151G>A (p.Ala51Thr) rs1853473868
NM_024426.6(WT1):c.151_152delinsAA (p.Ala51Asn) rs2133106703
NM_024426.6(WT1):c.1524C>A (p.His508Gln) rs1451629862
NM_024426.6(WT1):c.1526A>T (p.Asn509Ile) rs2132898041
NM_024426.6(WT1):c.1528A>G (p.Met510Val) rs1554938534
NM_024426.6(WT1):c.1529T>A (p.Met510Lys) rs1851743827
NM_024426.6(WT1):c.1538G>C (p.Arg513Thr) rs1363144688
NM_024426.6(WT1):c.1541A>C (p.Asn514Thr)
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser) rs1554938531
NM_024426.6(WT1):c.1541A>T (p.Asn514Ile) rs1554938531
NM_024426.6(WT1):c.1545G>A (p.Met515Ile) rs2132897547
NM_024426.6(WT1):c.1561G>C (p.Ala521Pro) rs1851742668
NM_024426.6(WT1):c.1569A>G (p.Ter523Trp) rs1851742229
NM_024426.6(WT1):c.161G>C (p.Ser54Thr)
NM_024426.6(WT1):c.162C>A (p.Ser54Arg) rs776954184
NM_024426.6(WT1):c.163G>A (p.Ala55Thr)
NM_024426.6(WT1):c.163G>T (p.Ala55Ser)
NM_024426.6(WT1):c.164_165delinsTG (p.Ala55Val) rs2133106545
NM_024426.6(WT1):c.166G>C (p.Glu56Gln)
NM_024426.6(WT1):c.169C>A (p.Arg57Ser) rs961526551
NM_024426.6(WT1):c.169C>G (p.Arg57Gly) rs961526551
NM_024426.6(WT1):c.16C>T (p.Leu6=)
NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)
NM_024426.6(WT1):c.170G>A (p.Arg57His) rs1011628259
NM_024426.6(WT1):c.170G>T (p.Arg57Leu) rs1011628259
NM_024426.6(WT1):c.172C>T (p.Leu58Phe) rs1412425868
NM_024426.6(WT1):c.173T>G (p.Leu58Arg)
NM_024426.6(WT1):c.176A>G (p.Gln59Arg) rs2133106426
NM_024426.6(WT1):c.177G>A (p.Gln59=) rs1311704660
NM_024426.6(WT1):c.177G>C (p.Gln59His) rs1311704660
NM_024426.6(WT1):c.17T>C (p.Leu6Pro)
NM_024426.6(WT1):c.181C>T (p.Arg61Trp)
NM_024426.6(WT1):c.181_182delinsTA (p.Arg61Ter)
NM_024426.6(WT1):c.182G>A (p.Arg61Gln)
NM_024426.6(WT1):c.182G>C (p.Arg61Pro)
NM_024426.6(WT1):c.185G>A (p.Arg62Lys) rs1295712217
NM_024426.6(WT1):c.189C>A (p.Ser63Arg) rs1215127008
NM_024426.6(WT1):c.191G>A (p.Arg64His) rs1853471149
NM_024426.6(WT1):c.193G>T (p.Gly65Trp) rs374404615
NM_024426.6(WT1):c.194G>A (p.Gly65Glu) rs1853470727
NM_024426.6(WT1):c.196G>A (p.Ala66Thr) rs1590410967
NM_024426.6(WT1):c.196del (p.Ala66fs)
NM_024426.6(WT1):c.197C>A (p.Ala66Glu) rs1341675324
NM_024426.6(WT1):c.197C>T (p.Ala66Val)
NM_024426.6(WT1):c.19C>A (p.Gln7Lys) rs2133108011
NM_024426.6(WT1):c.19C>T (p.Gln7Ter) rs2133108011
NM_024426.6(WT1):c.200C>T (p.Ser67Phe) rs1327516147
NM_024426.6(WT1):c.202G>C (p.Gly68Arg) rs1353446740
NM_024426.6(WT1):c.203G>A (p.Gly68Glu) rs1170323988
NM_024426.6(WT1):c.210G>C (p.Glu70Asp) rs745506215
NM_024426.6(WT1):c.211C>T (p.Pro71Ser) rs1392405207
NM_024426.6(WT1):c.215A>T (p.Gln72Leu) rs2133106001
NM_024426.6(WT1):c.216G>C (p.Gln72His) rs5030135
NM_024426.6(WT1):c.230A>T (p.Asp77Val)
NM_024426.6(WT1):c.232G>A (p.Val78Met) rs1590410789
NM_024426.6(WT1):c.236G>A (p.Arg79Gln) rs1853467176
NM_024426.6(WT1):c.238G>C (p.Asp80His)
NM_024426.6(WT1):c.23A>T (p.Asp8Val)
NM_024426.6(WT1):c.240C>G (p.Asp80Glu) rs2133105820
NM_024426.6(WT1):c.241C>A (p.Leu81Met) rs777617460
NM_024426.6(WT1):c.242T>G (p.Leu81Arg) rs2133105795
NM_024426.6(WT1):c.244A>G (p.Asn82Asp)
NM_024426.6(WT1):c.246C>A (p.Asn82Lys)
NM_024426.6(WT1):c.246C>G (p.Asn82Lys)
NM_024426.6(WT1):c.247G>A (p.Ala83Thr)
NM_024426.6(WT1):c.247G>C (p.Ala83Pro) rs886048231
NM_024426.6(WT1):c.247G>T (p.Ala83Ser) rs886048231
NM_024426.6(WT1):c.247_248delinsCT (p.Ala83Leu)
NM_024426.6(WT1):c.24C>A (p.Asp8Glu) rs1393437791
NM_024426.6(WT1):c.24C>G (p.Asp8Glu) rs1393437791
NM_024426.6(WT1):c.254T>C (p.Leu85Pro)
NM_024426.6(WT1):c.257C>T (p.Pro86Leu)
NM_024426.6(WT1):c.25C>A (p.Pro9Thr) rs1314273962
NM_024426.6(WT1):c.261_262delinsTT (p.Val88Phe)
NM_024426.6(WT1):c.262G>T (p.Val88Phe) rs1410971862
NM_024426.6(WT1):c.263T>A (p.Val88Asp)
NM_024426.6(WT1):c.265C>A (p.Pro89Thr)
NM_024426.6(WT1):c.266C>T (p.Pro89Leu)
NM_024426.6(WT1):c.268T>C (p.Ser90Pro) rs1590410623
NM_024426.6(WT1):c.269C>T (p.Ser90Phe) rs1853464700
NM_024426.6(WT1):c.26C>G (p.Pro9Arg) rs948132360
NM_024426.6(WT1):c.277GGC[3] (p.Gly96del) rs770519620
NM_024426.6(WT1):c.277GGC[5] (p.Gly96dup) rs770519620
NM_024426.6(WT1):c.278G>A (p.Gly93Asp) rs1590410578
NM_024426.6(WT1):c.280G>A (p.Gly94Ser) rs758512604
NM_024426.6(WT1):c.284G>A (p.Gly95Asp)
NM_024426.6(WT1):c.285C>T (p.Gly95=) rs886048230
NM_024426.6(WT1):c.286G>T (p.Gly96Cys) rs1060501254
NM_024426.6(WT1):c.288_289insGGA (p.Gly96_Cys97insGly)
NM_024426.6(WT1):c.289T>C (p.Cys97Arg) rs1383360383
NM_024426.6(WT1):c.28G>A (p.Ala10Thr)
NM_024426.6(WT1):c.28G>T (p.Ala10Ser) rs1351753257
NM_024426.6(WT1):c.28_29delinsAT (p.Ala10Ile) rs1554946803
NM_024426.6(WT1):c.28_29delinsTA (p.Ala10Tyr) rs1554946803
NM_024426.6(WT1):c.290G>C (p.Cys97Ser) rs1853462998
NM_024426.6(WT1):c.293C>G (p.Ala98Gly) rs1853462729
NM_024426.6(WT1):c.293C>T (p.Ala98Val) rs1853462729
NM_024426.6(WT1):c.295C>G (p.Leu99Val)
NM_024426.6(WT1):c.296T>A (p.Leu99Gln) rs1565001942
NM_024426.6(WT1):c.296T>C (p.Leu99Pro) rs1565001942
NM_024426.6(WT1):c.298C>A (p.Pro100Thr) rs567200038
NM_024426.6(WT1):c.298C>T (p.Pro100Ser) rs567200038
NM_024426.6(WT1):c.299C>G (p.Pro100Arg)
NM_024426.6(WT1):c.301G>C (p.Val101Leu) rs1853461708
NM_024426.6(WT1):c.305G>A (p.Ser102Asn) rs1210117032
NM_024426.6(WT1):c.306C>A (p.Ser102Arg)
NM_024426.6(WT1):c.307G>T (p.Gly103Cys) rs1348287926
NM_024426.6(WT1):c.310G>A (p.Ala104Thr) rs1853461168
NM_024426.6(WT1):c.311C>T (p.Ala104Val)
NM_024426.6(WT1):c.313G>T (p.Ala105Ser) rs1236417259
NM_024426.6(WT1):c.319T>G (p.Trp107Gly) rs1853460114
NM_024426.6(WT1):c.320G>T (p.Trp107Leu) rs1009810769
NM_024426.6(WT1):c.322G>A (p.Ala108Thr)
NM_024426.6(WT1):c.325C>G (p.Pro109Ala)
NM_024426.6(WT1):c.325C>T (p.Pro109Ser)
NM_024426.6(WT1):c.326C>A (p.Pro109Gln) rs1853459569
NM_024426.6(WT1):c.329T>C (p.Val110Ala) rs1853459284
NM_024426.6(WT1):c.32C>T (p.Ser11Phe)
NM_024426.6(WT1):c.332T>C (p.Leu111Pro)
NM_024426.6(WT1):c.338T>A (p.Phe113Tyr)
NM_024426.6(WT1):c.338T>C (p.Phe113Ser)
NM_024426.6(WT1):c.33_34delinsAC (p.Thr12Pro) rs2133107830
NM_024426.6(WT1):c.340G>A (p.Ala114Thr) rs1590410300
NM_024426.6(WT1):c.341C>T (p.Ala114Val) rs1311557029
NM_024426.6(WT1):c.343C>A (p.Pro115Thr) rs916583720
NM_024426.6(WT1):c.344C>A (p.Pro115His) rs1565001804
NM_024426.6(WT1):c.346C>A (p.Pro116Thr) rs1554946595
NM_024426.6(WT1):c.347C>G (p.Pro116Arg)
NM_024426.6(WT1):c.347C>T (p.Pro116Leu) rs886048229
NM_024426.6(WT1):c.34A>G (p.Thr12Ala)
NM_024426.6(WT1):c.351C>T (p.Gly117=) rs1473590912
NM_024426.6(WT1):c.352G>A (p.Ala118Thr) rs1253163678
NM_024426.6(WT1):c.356C>G (p.Ser119Trp) rs1853456180
NM_024426.6(WT1):c.356C>T (p.Ser119Leu)
NM_024426.6(WT1):c.358G>A (p.Ala120Thr) rs1590410151
NM_024426.6(WT1):c.35C>A (p.Thr12Lys)
NM_024426.6(WT1):c.35C>T (p.Thr12Met) rs2133107793
NM_024426.6(WT1):c.368C>T (p.Ser123Leu) rs2133104248
NM_024426.6(WT1):c.372G>T (p.Leu124Phe)
NM_024426.6(WT1):c.376G>A (p.Gly126Ser) rs1853454814
NM_024426.6(WT1):c.376G>C (p.Gly126Arg)
NM_024426.6(WT1):c.376G>T (p.Gly126Cys) rs1853454814
NM_024426.6(WT1):c.377G>A (p.Gly126Asp)
NM_024426.6(WT1):c.377G>C (p.Gly126Ala) rs2133104145
NM_024426.6(WT1):c.379C>A (p.Pro127Thr) rs1554946578
NM_024426.6(WT1):c.379C>T (p.Pro127Ser)
NM_024426.6(WT1):c.380C>T (p.Pro127Leu)
NM_024426.6(WT1):c.382G>A (p.Ala128Thr) rs1853454136
NM_024426.6(WT1):c.383C>A (p.Ala128Glu)
NM_024426.6(WT1):c.386C>T (p.Pro129Leu) rs745435848
NM_024426.6(WT1):c.388C>T (p.Pro130Ser) rs1554946573
NM_024426.6(WT1):c.389C>T (p.Pro130Leu)
NM_024426.6(WT1):c.390_401dup (p.128APPP[3]) rs2133103848
NM_024426.6(WT1):c.391C>A (p.Pro131Thr)
NM_024426.6(WT1):c.391C>T (p.Pro131Ser) rs564706633
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
NM_024426.6(WT1):c.393G>A (p.Pro131=) rs1229890218
NM_024426.6(WT1):c.393_407del (p.Ala132_Pro136del) rs1853451296
NM_024426.6(WT1):c.393_407dup (p.Ala132_Pro136dup) rs1853451296
NM_024426.6(WT1):c.394G>T (p.Ala132Ser)
NM_024426.6(WT1):c.395C>G (p.Ala132Gly)
NM_024426.6(WT1):c.397C>T (p.Pro133Ser) rs1202603651
NM_024426.6(WT1):c.398C>A (p.Pro133Gln)
NM_024426.6(WT1):c.400C>T (p.Pro134Ser) rs2133103862
NM_024426.6(WT1):c.401C>G (p.Pro134Arg) rs748974419
NM_024426.6(WT1):c.401C>T (p.Pro134Leu)
NM_024426.6(WT1):c.405_413dup (p.Pro141_His142insProProPro)
NM_024426.6(WT1):c.405_416dup (p.Pro138_Pro141dup) rs1469499452
NM_024426.6(WT1):c.405_419del (p.Pro137_Pro141del) rs2133103594
NM_024426.6(WT1):c.405_422dup (p.Pro136_Pro141dup) rs1853449457
NM_024426.6(WT1):c.406C>T (p.Pro136Ser)
NM_024426.6(WT1):c.409C>G (p.Pro137Ala) rs1853451078
NM_024426.6(WT1):c.40G>C (p.Val14Leu)
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) rs760304811
NM_024426.6(WT1):c.413C>A (p.Pro138Gln) rs1853450493
NM_024426.6(WT1):c.413C>G (p.Pro138Arg) rs1853450493
NM_024426.6(WT1):c.413C>T (p.Pro138Leu)
NM_024426.6(WT1):c.416C>A (p.Pro139Gln)
NM_024426.6(WT1):c.416C>G (p.Pro139Arg) rs878855085
NM_024426.6(WT1):c.422C>T (p.Pro141Leu)
NM_024426.6(WT1):c.424C>T (p.His142Tyr)
NM_024426.6(WT1):c.425A>C (p.His142Pro) rs1565001515
NM_024426.6(WT1):c.425A>T (p.His142Leu) rs1565001515
NM_024426.6(WT1):c.426C>G (p.His142Gln) rs1183359726
NM_024426.6(WT1):c.427T>C (p.Ser143Pro) rs778937284
NM_024426.6(WT1):c.428C>G (p.Ser143Cys)
NM_024426.6(WT1):c.430_432del (p.Phe144del)
NM_024426.6(WT1):c.433A>G (p.Ile145Val) rs2133103410
NM_024426.6(WT1):c.445C>T (p.Pro149Ser) rs1554946517
NM_024426.6(WT1):c.446C>A (p.Pro149Gln) rs1853447771
NM_024426.6(WT1):c.446C>G (p.Pro149Arg) rs1853447771
NM_024426.6(WT1):c.448A>G (p.Ser150Gly) rs1853447534
NM_024426.6(WT1):c.449G>A (p.Ser150Asn) rs1853447426
NM_024426.6(WT1):c.449G>T (p.Ser150Ile)
NM_024426.6(WT1):c.44C>T (p.Pro15Leu) rs2133107749
NM_024426.6(WT1):c.450C>A (p.Ser150Arg) rs1213710686
NM_024426.6(WT1):c.451T>A (p.Trp151Arg) rs1853446972
NM_024426.6(WT1):c.455G>A (p.Gly152Asp) rs1853446628
NM_024426.6(WT1):c.463G>A (p.Glu155Lys) rs1853446395
NM_024426.6(WT1):c.466C>T (p.Pro156Ser) rs1353428791
NM_024426.6(WT1):c.467C>A (p.Pro156Gln) rs1225927150
NM_024426.6(WT1):c.467C>T (p.Pro156Leu) rs1225927150
NM_024426.6(WT1):c.46G>A (p.Glu16Lys) rs2133107724
NM_024426.6(WT1):c.471C>A (p.His157Gln) rs753238865
NM_024426.6(WT1):c.471C>G (p.His157Gln) rs753238865
NM_024426.6(WT1):c.472G>A (p.Glu158Lys) rs1565001383
NM_024426.6(WT1):c.472G>C (p.Glu158Gln) rs1565001383
NM_024426.6(WT1):c.476A>G (p.Glu159Gly)
NM_024426.6(WT1):c.477G>C (p.Glu159Asp) rs2133102935
NM_024426.6(WT1):c.478C>G (p.Gln160Glu) rs1554946500
NM_024426.6(WT1):c.480G>C (p.Gln160His) rs758900425
NM_024426.6(WT1):c.481T>G (p.Cys161Gly)
NM_024426.6(WT1):c.482G>T (p.Cys161Phe) rs1201988298
NM_024426.6(WT1):c.488G>A (p.Ser163Asn) rs1853444119
NM_024426.6(WT1):c.489C>G (p.Ser163Arg)
NM_024426.6(WT1):c.490G>C (p.Ala164Pro) rs986597775
NM_024426.6(WT1):c.496A>G (p.Thr166Ala) rs1853443725
NM_024426.6(WT1):c.497C>G (p.Thr166Ser)
NM_024426.6(WT1):c.49C>T (p.Pro17Ser)
NM_024426.6(WT1):c.500T>C (p.Val167Ala)
NM_024426.6(WT1):c.503A>G (p.His168Arg) rs762660918
NM_024426.6(WT1):c.505T>C (p.Phe169Leu) rs2133102637
NM_024426.6(WT1):c.506T>C (p.Phe169Ser)
NM_024426.6(WT1):c.50C>T (p.Pro17Leu) rs1853481697
NM_024426.6(WT1):c.511G>C (p.Gly171Arg)
NM_024426.6(WT1):c.519C>A (p.Phe173Leu)
NM_024426.6(WT1):c.520A>G (p.Thr174Ala) rs955122145
NM_024426.6(WT1):c.524G>A (p.Gly175Asp) rs1853442286
NM_024426.6(WT1):c.527C>T (p.Thr176Ile) rs1853442157
NM_024426.6(WT1):c.529G>T (p.Ala177Ser)
NM_024426.6(WT1):c.52G>C (p.Ala18Pro) rs1590411684
NM_024426.6(WT1):c.52G>T (p.Ala18Ser)
NM_024426.6(WT1):c.532G>A (p.Gly178Arg)
NM_024426.6(WT1):c.533G>A (p.Gly178Glu)
NM_024426.6(WT1):c.535G>A (p.Ala179Thr) rs2133102397
NM_024426.6(WT1):c.539G>A (p.Cys180Tyr)
NM_024426.6(WT1):c.53C>A (p.Ala18Glu)
NM_024426.6(WT1):c.541C>A (p.Arg181Ser) rs1565001278
NM_024426.6(WT1):c.541C>G (p.Arg181Gly)
NM_024426.6(WT1):c.542G>C (p.Arg181Pro) rs1853441270
NM_024426.6(WT1):c.544T>C (p.Tyr182His)
NM_024426.6(WT1):c.547G>C (p.Gly183Arg) rs1462705405
NM_024426.6(WT1):c.548G>A (p.Gly183Glu) rs1060501256
NM_024426.6(WT1):c.553T>G (p.Phe185Val)
NM_024426.6(WT1):c.554T>G (p.Phe185Cys)
NM_024426.6(WT1):c.555C>G (p.Phe185Leu)
NM_024426.6(WT1):c.556G>A (p.Gly186Ser) rs768644520
NM_024426.6(WT1):c.557G>A (p.Gly186Asp)
NM_024426.6(WT1):c.563C>T (p.Pro188Leu) rs2133102091
NM_024426.6(WT1):c.565C>G (p.Pro189Ala) rs1853439331
NM_024426.6(WT1):c.565C>T (p.Pro189Ser) rs1853439331
NM_024426.6(WT1):c.566C>A (p.Pro189Gln)
NM_024426.6(WT1):c.566C>G (p.Pro189Arg) rs745879965
NM_024426.6(WT1):c.56C>G (p.Ser19Cys)
NM_024426.6(WT1):c.572G>C (p.Ser191Thr) rs2133101967
NM_024426.6(WT1):c.575A>G (p.Gln192Arg) rs1853438394
NM_024426.6(WT1):c.577G>A (p.Ala193Thr) rs1590409175
NM_024426.6(WT1):c.577G>C (p.Ala193Pro) rs1590409175
NM_024426.6(WT1):c.577_582dup (p.Ser194_Ser195insAlaSer)
NM_024426.6(WT1):c.578C>A (p.Ala193Glu)
NM_024426.6(WT1):c.578C>G (p.Ala193Gly) rs572926487
NM_024426.6(WT1):c.578C>T (p.Ala193Val)
NM_024426.6(WT1):c.581C>T (p.Ser194Leu) rs2133101846
NM_024426.6(WT1):c.583T>G (p.Ser195Ala)
NM_024426.6(WT1):c.584C>T (p.Ser195Phe) rs778194188
NM_024426.6(WT1):c.589C>A (p.Gln197Lys) rs2133101720
NM_024426.6(WT1):c.590A>G (p.Gln197Arg) rs1853436737
NM_024426.6(WT1):c.591G>T (p.Gln197His) rs767850217
NM_024426.6(WT1):c.593C>T (p.Ala198Val) rs1853436133
NM_024426.6(WT1):c.598A>G (p.Met200Val)
NM_024426.6(WT1):c.598A>T (p.Met200Leu) rs1853435610
NM_024426.6(WT1):c.599T>G (p.Met200Arg) rs2133101589
NM_024426.6(WT1):c.59A>T (p.Gln20Leu)
NM_024426.6(WT1):c.600G>A (p.Met200Ile) rs1060501257
NM_024426.6(WT1):c.604C>T (p.Pro202Ser) rs1853435385
NM_024426.6(WT1):c.609C>A (p.Asn203Lys)
NM_024426.6(WT1):c.609C>G (p.Asn203Lys) rs2234583
NM_024426.6(WT1):c.611C>T (p.Ala204Val) rs1277548839
NM_024426.6(WT1):c.616T>C (p.Tyr206His)
NM_024426.6(WT1):c.62A>G (p.His21Arg) rs1853481014
NM_024426.6(WT1):c.62A>T (p.His21Leu) rs1853481014
NM_024426.6(WT1):c.631C>T (p.Leu211Phe) rs1853433365
NM_024426.6(WT1):c.635A>G (p.Glu212Gly) rs2133101294
NM_024426.6(WT1):c.636G>C (p.Glu212Asp)
NM_024426.6(WT1):c.638G>A (p.Ser213Asn) rs746964440
NM_024426.6(WT1):c.639C>A (p.Ser213Arg)
NM_024426.6(WT1):c.643C>A (p.Pro215Thr)
NM_024426.6(WT1):c.649A>C (p.Ile217Leu) rs1384974578
NM_024426.6(WT1):c.649A>G (p.Ile217Val) rs1384974578
NM_024426.6(WT1):c.649A>T (p.Ile217Phe) rs1384974578
NM_024426.6(WT1):c.64A>G (p.Thr22Ala) rs2133107584
NM_024426.6(WT1):c.652C>A (p.Arg218Ser) rs2133101131
NM_024426.6(WT1):c.652C>T (p.Arg218Cys)
NM_024426.6(WT1):c.653G>A (p.Arg218His) rs756414084
NM_024426.6(WT1):c.653G>T (p.Arg218Leu) rs756414084
NM_024426.6(WT1):c.655A>C (p.Asn219His) rs748435329
NM_024426.6(WT1):c.656A>G (p.Asn219Ser)
NM_024426.6(WT1):c.659A>G (p.Gln220Arg) rs1554946409
NM_024426.6(WT1):c.659A>T (p.Gln220Leu) rs1554946409
NM_024426.6(WT1):c.660G>A (p.Gln220=)
NM_024426.6(WT1):c.661+15G>T rs1362460137
NM_024426.6(WT1):c.661+3A>G
NM_024426.6(WT1):c.661G>A (p.Gly221Ser)
NM_024426.6(WT1):c.661G>T (p.Gly221Cys)
NM_024426.6(WT1):c.662-3C>T rs1853152059
NM_024426.6(WT1):c.662G>T (p.Gly221Val)
NM_024426.6(WT1):c.664T>C (p.Tyr222His) rs746367691
NM_024426.6(WT1):c.667A>G (p.Ser223Gly)
NM_024426.6(WT1):c.670A>T (p.Thr224Ser) rs1554945246
NM_024426.6(WT1):c.671C>T (p.Thr224Met) rs779451877
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
NM_024426.6(WT1):c.676A>C (p.Thr226Pro) rs1853150433
NM_024426.6(WT1):c.677C>A (p.Thr226Asn) rs556804456
NM_024426.6(WT1):c.677C>T (p.Thr226Ile) rs556804456
NM_024426.6(WT1):c.67C>T (p.Leu23Phe) rs2133107546
NM_024426.6(WT1):c.680T>C (p.Phe227Ser) rs1554945235
NM_024426.6(WT1):c.682G>A (p.Asp228Asn) rs1193052708
NM_024426.6(WT1):c.685G>C (p.Gly229Arg) rs767419243
NM_024426.6(WT1):c.689C>A (p.Thr230Lys)
NM_024426.6(WT1):c.689C>G (p.Thr230Arg) rs777166391
NM_024426.6(WT1):c.690_691delinsTT (p.Pro231Ser) rs1853148368
NM_024426.6(WT1):c.691C>G (p.Pro231Ala) rs766425764
NM_024426.6(WT1):c.694A>G (p.Ser232Gly)
NM_024426.6(WT1):c.694_699dup (p.Tyr233_Gly234insSerTyr) rs1853147640
NM_024426.6(WT1):c.698A>G (p.Tyr233Cys)
NM_024426.6(WT1):c.700G>C (p.Gly234Arg) rs1307992683
NM_024426.6(WT1):c.700G>T (p.Gly234Cys) rs1307992683
NM_024426.6(WT1):c.707C>T (p.Thr236Met) rs1372808262
NM_024426.6(WT1):c.709C>T (p.Pro237Ser) rs2133075717
NM_024426.6(WT1):c.70C>A (p.Arg24Ser)
NM_024426.6(WT1):c.718C>T (p.His240Tyr) rs2133075605
NM_024426.6(WT1):c.719A>G (p.His240Arg) rs886932571
NM_024426.6(WT1):c.719A>T (p.His240Leu) rs886932571
NM_024426.6(WT1):c.71G>C (p.Arg24Pro)
NM_024426.6(WT1):c.721G>A (p.Ala241Thr) rs1853145802
NM_024426.6(WT1):c.722C>T (p.Ala241Val) rs1190263054
NM_024426.6(WT1):c.725C>T (p.Ala242Val) rs1853145265
NM_024426.6(WT1):c.730T>C (p.Phe244Leu) rs771455202
NM_024426.6(WT1):c.733C>T (p.Pro245Ser) rs2133075412
NM_024426.6(WT1):c.73T>C (p.Ser25Pro)
NM_024426.6(WT1):c.740A>G (p.His247Arg) rs749860238
NM_024426.6(WT1):c.740A>T (p.His247Leu) rs749860238
NM_024426.6(WT1):c.742T>G (p.Ser248Ala)
NM_024426.6(WT1):c.745T>A (p.Phe249Ile) rs2133075297
NM_024426.6(WT1):c.746T>G (p.Phe249Cys) rs777119782
NM_024426.6(WT1):c.747C>G (p.Phe249Leu) rs1060501259
NM_024426.6(WT1):c.752A>G (p.His251Arg) rs914029023
NM_024426.6(WT1):c.752A>T (p.His251Leu) rs914029023
NM_024426.6(WT1):c.757G>A (p.Asp253Asn) rs1853142313
NM_024426.6(WT1):c.758A>T (p.Asp253Val)
NM_024426.6(WT1):c.760C>A (p.Pro254Thr) rs2234584
NM_024426.6(WT1):c.763A>C (p.Met255Leu) rs142653301
NM_024426.6(WT1):c.763A>T (p.Met255Leu) rs142653301
NM_024426.6(WT1):c.765G>C (p.Met255Ile) rs1060501255
NM_024426.6(WT1):c.765G>T (p.Met255Ile) rs1060501255
NM_024426.6(WT1):c.767G>A (p.Gly256Asp)
NM_024426.6(WT1):c.767G>T (p.Gly256Val) rs1554945190
NM_024426.6(WT1):c.76G>C (p.Gly26Arg) rs1189241211
NM_024426.6(WT1):c.773A>G (p.Gln258Arg) rs1853140674
NM_024426.6(WT1):c.774G>C (p.Gln258His) rs1853140429
NM_024426.6(WT1):c.776G>A (p.Gly259Asp) rs1311184469
NM_024426.6(WT1):c.781C>G (p.Leu261Val)
NM_024426.6(WT1):c.784+5G>A
NM_024426.6(WT1):c.784+6C>T rs1455790542
NM_024426.6(WT1):c.784G>T (p.Gly262Cys)
NM_024426.6(WT1):c.785-14G>A rs375514482
NM_024426.6(WT1):c.785-3C>T rs1590394595
NM_024426.6(WT1):c.791A>C (p.Gln264Pro)
NM_024426.6(WT1):c.799T>G (p.Ser267Ala)
NM_024426.6(WT1):c.800C>T (p.Ser267Leu) rs2133073025
NM_024426.6(WT1):c.806C>T (p.Pro269Leu) rs756078681
NM_024426.6(WT1):c.809C>T (p.Pro270Leu) rs1853120541
NM_024426.6(WT1):c.812C>A (p.Pro271Gln)
NM_024426.6(WT1):c.820G>A (p.Gly274Ser)
NM_024426.6(WT1):c.825C>G (p.Cys275Trp) rs200222400
NM_024426.6(WT1):c.830C>A (p.Thr277Asn) rs138073760
NM_024426.6(WT1):c.836C>T (p.Thr279Ile)
NM_024426.6(WT1):c.840C>G (p.Asp280Glu)
NM_024426.6(WT1):c.842G>C (p.Ser281Thr)
NM_024426.6(WT1):c.845G>T (p.Cys282Phe)
NM_024426.6(WT1):c.848C>T (p.Thr283Ile) rs776258782
NM_024426.6(WT1):c.854G>A (p.Ser285Asn) rs779813097
NM_024426.6(WT1):c.854G>C (p.Ser285Thr) rs779813097
NM_024426.6(WT1):c.855C>A (p.Ser285Arg) rs1320428764
NM_024426.6(WT1):c.857A>C (p.Gln286Pro) rs2133072249
NM_024426.6(WT1):c.859G>C (p.Ala287Pro) rs368452754
NM_024426.6(WT1):c.866T>C (p.Leu289Pro) rs2133072199
NM_024426.6(WT1):c.869T>G (p.Leu290Arg)
NM_024426.6(WT1):c.874A>G (p.Thr292Ala) rs1853114494
NM_024426.6(WT1):c.875C>A (p.Thr292Lys) rs1853114358
NM_024426.6(WT1):c.875C>T (p.Thr292Met) rs1853114358
NM_024426.6(WT1):c.877C>T (p.Pro293Ser)
NM_024426.6(WT1):c.87C>A (p.Cys29Ter) rs1554946770
NM_024426.6(WT1):c.883A>G (p.Ser295Gly) rs1853113579
NM_024426.6(WT1):c.884G>A (p.Ser295Asn)
NM_024426.6(WT1):c.887+15_887+16delinsAA
NM_024426.6(WT1):c.888-1G>A
NM_024426.6(WT1):c.888-9T>A rs1852720933
NM_024426.6(WT1):c.891C>A (p.Asp297Glu) rs2133037806
NM_024426.6(WT1):c.892A>G (p.Asn298Asp) rs1554943492
NM_024426.6(WT1):c.893A>G (p.Asn298Ser) rs907964605
NM_024426.6(WT1):c.905T>A (p.Met302Lys) rs1208241960
NM_024426.6(WT1):c.905T>G (p.Met302Arg)
NM_024426.6(WT1):c.906G>T (p.Met302Ile)
NM_024426.6(WT1):c.907A>G (p.Thr303Ala)
NM_024426.6(WT1):c.908C>T (p.Thr303Ile)
NM_024426.6(WT1):c.910T>C (p.Ser304Pro)
NM_024426.6(WT1):c.916C>A (p.Leu306Ile) rs2133037398
NM_024426.6(WT1):c.919G>C (p.Glu307Gln) rs1852718651
NM_024426.6(WT1):c.91C>G (p.Gln31Glu)
NM_024426.6(WT1):c.91C>T (p.Gln31Ter) rs914057243
NM_024426.6(WT1):c.922T>G (p.Cys308Gly) rs1852718495
NM_024426.6(WT1):c.923G>A (p.Cys308Tyr)
NM_024426.6(WT1):c.928A>C (p.Thr310Pro)
NM_024426.6(WT1):c.941T>G (p.Met314Arg)
NM_024426.6(WT1):c.946T>A (p.Leu316Ile) rs2133036912
NM_024426.6(WT1):c.94C>A (p.Gln32Lys)
NM_024426.6(WT1):c.953C>G (p.Ala318Gly) rs1201042140
NM_024426.6(WT1):c.955A>G (p.Thr319Ala) rs1852716784
NM_024426.6(WT1):c.956C>A (p.Thr319Asn) rs372630828
NM_024426.6(WT1):c.962A>C (p.Lys321Thr)
NM_024426.6(WT1):c.964G>A (p.Gly322Arg)
NM_024426.6(WT1):c.965+5G>A rs2133036572
NM_024426.6(WT1):c.965+6G>A
NM_024426.6(WT1):c.965G>A (p.Gly322Glu)
NM_024426.6(WT1):c.966-1G>A rs773989805
NM_024426.6(WT1):c.966-3T>C
NM_024426.6(WT1):c.968T>C (p.Val323Ala) rs1852677213
NM_024426.6(WT1):c.970G>T (p.Ala324Ser)
NM_024426.6(WT1):c.973G>T (p.Ala325Ser)
NM_024426.6(WT1):c.976G>C (p.Gly326Arg)
NM_024426.6(WT1):c.979A>C (p.Ser327Arg) rs1590373542
NM_024426.6(WT1):c.985A>G (p.Ser329Gly)
NM_024426.6(WT1):c.987C>G (p.Ser329Arg) rs2133032527
NM_024426.6(WT1):c.988T>C (p.Ser330Pro) rs879279620
NM_024426.6(WT1):c.989C>T (p.Ser330Leu) rs762688982
NM_024426.6(WT1):c.98C>A (p.Pro33Gln)
NM_024426.6(WT1):c.992T>C (p.Val331Ala)
NM_024426.6(WT1):c.996A>T (p.Lys332Asn) rs758410591
NM_024426.6(WT1):c.997T>C (p.Trp333Arg)
NM_030665.4(RAI1):c.1618G>T (p.Ala540Ser)
NM_030665.4(RAI1):c.1658T>C (p.Val553Ala)
NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn) rs1057519065
NM_030665.4(RAI1):c.1777G>T (p.Asp593Tyr)
NM_030665.4(RAI1):c.1888C>G (p.Pro630Ala) rs1184373480
NM_030665.4(RAI1):c.2468G>A (p.Gly823Asp)
NM_030665.4(RAI1):c.274C>A (p.Gln92Lys)
NM_030665.4(RAI1):c.282G>T (p.Arg94Ser)
NM_030665.4(RAI1):c.2918C>G (p.Ala973Gly) rs2032220904
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp) rs2143002559
NM_030665.4(RAI1):c.3272C>A (p.Ala1091Asp) rs2143002601
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp) rs898986244
NM_030665.4(RAI1):c.3660T>A (p.His1220Gln) rs745379131
NM_030665.4(RAI1):c.424G>T (p.Asp142Tyr) rs2032095988
NM_030665.4(RAI1):c.4415C>G (p.Ala1472Gly)
NM_030665.4(RAI1):c.4462A>G (p.Ser1488Gly)
NM_030665.4(RAI1):c.4967C>G (p.Ser1656Cys) rs774532013
NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)
NM_030665.4(RAI1):c.5698C>G (p.Pro1900Ala) rs1039699590
NM_030665.4(RAI1):c.619A>T (p.Thr207Ser) rs1434136369
NM_032322.4(RNF135):c.1015del (p.Val339fs) rs724159978
NM_032322.4(RNF135):c.742del (p.Leu248fs) rs724159977
NM_032408.4(BAZ1B):c.760C>T (p.Arg254Ter) rs2116378500
NM_032776.3(JMJD1C):c.1919del (p.Pro640fs)
NM_033380.3(COL4A5):c.989A>G (p.Lys330Arg)
NM_078480.3(PUF60):c.1046G>C (p.Gly349Ala)
NM_078480.3(PUF60):c.1187C>T (p.Ser396Leu)
NM_078480.3(PUF60):c.11C>G (p.Ala4Gly)
NM_078480.3(PUF60):c.1292C>T (p.Pro431Leu) rs1816390931
NM_078480.3(PUF60):c.1376A>G (p.Gln459Arg)
NM_078480.3(PUF60):c.1381-3_1381-2del
NM_078480.3(PUF60):c.1384A>G (p.Thr462Ala)
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp) rs2130258570
NM_078480.3(PUF60):c.530A>G (p.Tyr177Cys)
NM_078480.3(PUF60):c.603G>A (p.Lys201=) rs1816591218
NM_078480.3(PUF60):c.613C>T (p.Pro205Ser) rs1439430129
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln) rs1317244394
NM_078480.3(PUF60):c.914C>T (p.Pro305Leu)
NM_080647.1(TBX1):c.-4_6del (p.Met1fs)
NM_080647.1(TBX1):c.28A>G (p.Met10Val) rs1936578247
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_138435.4(FAM83F):c.671G>A (p.Arg224His)
NM_144997.7(FLCN):c.1040A>G (p.Lys347Arg) rs752337482
NM_144997.7(FLCN):c.10A>G (p.Ile4Val) rs1555611575
NM_144997.7(FLCN):c.1283C>A (p.Pro428His) rs199889477
NM_144997.7(FLCN):c.1285C>G (p.His429Asp) rs375082054
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr) rs375082054
NM_144997.7(FLCN):c.1300+4C>T rs1207963576
NM_144997.7(FLCN):c.1309G>C (p.Val437Leu) rs772207015
NM_144997.7(FLCN):c.1337G>A (p.Arg446His) rs750104212
NM_144997.7(FLCN):c.134C>T (p.Ala45Val) rs556510460
NM_144997.7(FLCN):c.1351C>T (p.Pro451Ser) rs2046880742
NM_144997.7(FLCN):c.1487C>T (p.Ser496Phe) rs750535468
NM_144997.7(FLCN):c.1519C>T (p.Leu507Phe) rs1360467783
NM_144997.7(FLCN):c.1547A>G (p.Lys516Arg) rs2046824022
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu) rs201056799
NM_144997.7(FLCN):c.1715C>A (p.Pro572His) rs1567804824
NM_144997.7(FLCN):c.1733G>A (p.Arg578Gln) rs1048214486
NM_144997.7(FLCN):c.202A>C (p.Ser68Arg) rs587778365
NM_144997.7(FLCN):c.380G>A (p.Arg127Gln) rs1567822604
NM_144997.7(FLCN):c.598C>T (p.Leu200Phe) rs1229735191
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro) rs878855219
NM_144997.7(FLCN):c.718TCGCTGACA[1] (p.241LTS[1]) rs1209487287
NM_144997.7(FLCN):c.728C>T (p.Ser243Leu) rs1026067642
NM_144997.7(FLCN):c.798C>T (p.Gly266=) rs2047092959
NM_144997.7(FLCN):c.79G>T (p.Ala27Ser) rs779449668
NM_144997.7(FLCN):c.833C>G (p.Pro278Arg) rs748031634
NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)
NM_152989.5(SOX5):c.-1-87764T>C rs1949815031
NM_152989.5(SOX5):c.-175-344A>G rs2136240323
NM_170707.4(LMNA):c.1535T>C (p.Leu512Pro) rs57877560
NM_172349.5(NSD1):c.-151+112_-151+113del rs1581082075
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.