ClinVar Miner

List of variants reported as likely benign for chromosomal disorder by Invitae

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3460
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.2519-20T>G rs775650772 0.01348
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_001211.6(BUB1B):c.10G>A (p.Val4Met) rs147549987 0.00192
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser) rs565927787 0.00107
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_001379200.1(TBX1):c.1037-15C>T rs533097263 0.00087
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_001211.6(BUB1B):c.772C>T (p.Leu258Phe) rs146387899 0.00085
NM_001211.6(BUB1B):c.1628+9T>C rs112600564 0.00075
NM_001378120.1(MBD5):c.4595G>A (p.Arg1532Gln) rs35934694 0.00074
NM_001211.6(BUB1B):c.1539C>T (p.Asn513=) rs140534961 0.00071
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
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_001211.6(BUB1B):c.1058+11T>G rs369003469 0.00059
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala) rs952890575 0.00059
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_001379200.1(TBX1):c.540-8C>T rs72646960 0.00049
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile) rs145808884 0.00047
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710 0.00045
NM_000057.4(BLM):c.1883-17G>A rs376931510 0.00044
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 0.00044
NM_001211.6(BUB1B):c.2385+13C>G rs191736357 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_014679.5(CEP57):c.886-7C>A rs150303764 0.00041
NM_001378120.1(MBD5):c.471A>G (p.Thr157=) rs138433455 0.00040
NM_000057.4(BLM):c.3813G>A (p.Leu1271=) rs376082823 0.00039
NM_001378120.1(MBD5):c.4401C>T (p.Val1467=) rs144957555 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_001211.6(BUB1B):c.36-14_36-13insG rs373264516 0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_001172509.2(SATB2):c.1071C>T (p.Ser357=) rs148055910 0.00035
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216 0.00034
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=) rs141013408 0.00033
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700 0.00029
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_001172509.2(SATB2):c.1257G>A (p.Gln419=) rs367947535 0.00029
NM_001211.6(BUB1B):c.1746A>C (p.Thr582=) rs373105304 0.00029
NM_001211.6(BUB1B):c.752-13T>C rs201927813 0.00029
NM_001378120.1(MBD5):c.1961A>T (p.Asp654Val) rs115495710 0.00029
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln) rs555522870 0.00026
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673 0.00024
NM_001172509.2(SATB2):c.333G>C (p.Ala111=) rs140116634 0.00024
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) rs143571876 0.00024
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402 0.00023
NM_001211.6(BUB1B):c.1734+18T>C rs185839024 0.00023
NM_001211.6(BUB1B):c.1413G>T (p.Thr471=) rs374560564 0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_001211.6(BUB1B):c.2009+17_2009+18insC rs577967976 0.00021
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) rs371014306 0.00021
NM_001378120.1(MBD5):c.2502A>C (p.Gln834His) rs147272790 0.00021
NM_002397.5(MEF2C):c.27G>A (p.Thr9=) rs540349899 0.00021
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) rs139110744 0.00021
NM_022455.5(NSD1):c.6463+8C>A rs147592452 0.00021
NM_001211.6(BUB1B):c.3147T>C (p.Phe1049=) rs376467292 0.00019
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) rs761118931 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_022455.5(NSD1):c.6464-5T>C rs545039997 0.00019
NM_022455.5(NSD1):c.6464-8G>T rs577262396 0.00019
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn) rs772981865 0.00019
NM_024426.6(WT1):c.124G>A (p.Gly42Ser) rs762288656 0.00019
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) rs200115665 0.00018
NM_014679.5(CEP57):c.46-10T>C rs540711314 0.00017
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_001172509.2(SATB2):c.1740+12C>T rs201101830 0.00016
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_024426.6(WT1):c.567G>T (p.Pro189=) rs141135091 0.00016
NM_001172509.2(SATB2):c.1572G>A (p.Lys524=) rs376557576 0.00015
NM_001378120.1(MBD5):c.4857C>T (p.Gly1619=) rs543329958 0.00015
NM_001378120.1(MBD5):c.4963-11C>T rs147291009 0.00015
NM_001379200.1(TBX1):c.913C>A (p.Arg305=) rs751339103 0.00015
NM_001172509.2(SATB2):c.585C>T (p.Cys195=) rs376383948 0.00014
NM_001211.6(BUB1B):c.1628+17T>G rs375854305 0.00014
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00014
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln) rs918788695 0.00014
NM_014679.5(CEP57):c.501A>G (p.Lys167=) rs140524256 0.00014
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) rs144524958 0.00014
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_001172509.2(SATB2):c.381C>A (p.Pro127=) rs746473092 0.00013
NM_001379200.1(TBX1):c.594G>A (p.Thr198=) rs138724943 0.00013
NM_000057.4(BLM):c.2194-13C>T rs746930460 0.00012
NM_001172509.2(SATB2):c.1173+6A>G rs747745210 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_022455.5(NSD1):c.6276G>A (p.Thr2092=) rs138041618 0.00012
NM_022455.5(NSD1):c.786C>T (p.Asp262=) rs370328602 0.00012
NM_024426.6(WT1):c.1017-15T>C rs374441355 0.00012
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163 0.00011
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp) rs201251790 0.00011
NM_001378120.1(MBD5):c.217-16G>C rs377517776 0.00011
NM_001379200.1(TBX1):c.936-8G>T rs753380966 0.00011
NM_001379200.1(TBX1):c.96C>T (p.Ala32=) rs931429492 0.00011
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_000057.4(BLM):c.2598A>T (p.Val866=) rs574053990 0.00010
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171 0.00010
NM_001172509.2(SATB2):c.1173+5A>G rs569655648 0.00010
NM_001172509.2(SATB2):c.2088C>T (p.Thr696=) rs143484322 0.00010
NM_001378120.1(MBD5):c.4182A>G (p.Ser1394=) rs775314520 0.00010
NM_001379200.1(TBX1):c.915G>C (p.Arg305=) rs146109202 0.00010
NM_002397.5(MEF2C):c.258+7G>C rs372739987 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_024426.6(WT1):c.1264+19C>T rs2234592 0.00010
NM_024426.6(WT1):c.849C>T (p.Thr283=) rs145425799 0.00010
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_001172509.2(SATB2):c.1248G>A (p.Arg416=) rs371524081 0.00009
NM_001172509.2(SATB2):c.1935C>T (p.Ile645=) rs183727190 0.00009
NM_001211.6(BUB1B):c.966+14G>C rs377647421 0.00009
NM_001378120.1(MBD5):c.1458T>C (p.Ile486=) rs144232195 0.00009
NM_001378120.1(MBD5):c.1965A>C (p.Ala655=) rs774148814 0.00009
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala) rs756608508 0.00009
NM_001379200.1(TBX1):c.539+7G>A rs780062926 0.00009
NM_001379200.1(TBX1):c.540-15C>G rs45561334 0.00009
NM_002397.5(MEF2C):c.54+13A>T rs374788140 0.00009
NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile) rs35597015 0.00009
NM_022455.5(NSD1):c.4665G>A (p.Leu1555=) rs779537845 0.00009
NM_022455.5(NSD1):c.6429C>T (p.His2143=) rs121908068 0.00009
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=) rs148585227 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_024426.6(WT1):c.1158G>A (p.Ser386=) rs377446096 0.00009
NM_024426.6(WT1):c.966-20C>T rs374791135 0.00009
NM_000057.4(BLM):c.1088-14T>C rs781351856 0.00008
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_001172509.2(SATB2):c.1740+20G>A rs375950005 0.00008
NM_001172509.2(SATB2):c.2109C>T (p.Ser703=) rs148851926 0.00008
NM_001211.6(BUB1B):c.2673A>G (p.Arg891=) rs140574971 0.00008
NM_001211.6(BUB1B):c.2857C>T (p.Leu953=) rs1055481142 0.00008
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=) rs1443686047 0.00008
NM_002397.5(MEF2C):c.780A>G (p.Pro260=) rs776117674 0.00008
NM_014679.5(CEP57):c.426A>G (p.Leu142=) rs148894464 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.1140C>A (p.Ala380=) rs147126640 0.00008
NM_024426.6(WT1):c.1264+12C>T rs369633552 0.00008
NM_024426.6(WT1):c.314C>G (p.Ala105Gly) rs948061247 0.00008
NM_024426.6(WT1):c.888-16G>C rs371814667 0.00008
NM_000057.4(BLM):c.2856G>A (p.Gly952=) rs140559841 0.00007
NM_000057.4(BLM):c.3751+9A>C rs774368488 0.00007
NM_001172509.2(SATB2):c.1387-6T>C rs769072507 0.00007
NM_001172509.2(SATB2):c.1947G>A (p.Ser649=) rs781765799 0.00007
NM_001211.6(BUB1B):c.1437A>G (p.Lys479=) rs56292726 0.00007
NM_001211.6(BUB1B):c.1735-19T>C rs750579205 0.00007
NM_001211.6(BUB1B):c.219C>T (p.Asp73=) rs548540749 0.00007
NM_001211.6(BUB1B):c.678A>G (p.Thr226=) rs142284213 0.00007
NM_001378120.1(MBD5):c.3681G>A (p.Ala1227=) rs572893308 0.00007
NM_001378120.1(MBD5):c.3690A>G (p.Gly1230=) rs139379552 0.00007
NM_001378120.1(MBD5):c.4963-10C>T rs201439677 0.00007
NM_001379200.1(TBX1):c.961C>T (p.Leu321=) rs745951558 0.00007
NM_014679.5(CEP57):c.540A>G (p.Thr180=) rs376792493 0.00007
NM_022455.5(NSD1):c.142A>G (p.Met48Val) rs200735877 0.00007
NM_022455.5(NSD1):c.4765+15G>A rs766201833 0.00007
NM_024426.6(WT1):c.1020C>T (p.His340=) rs375114529 0.00007
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
NM_000057.4(BLM):c.2194-11T>G rs8038505 0.00006
NM_000057.4(BLM):c.2407-6A>G rs1478497820 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2555+14C>T rs372929243 0.00006
NM_000057.4(BLM):c.2877A>C (p.Arg959=) rs773582992 0.00006
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) rs376734461 0.00006
NM_000057.4(BLM):c.450C>T (p.Thr150=) rs148861300 0.00006
NM_001172509.2(SATB2):c.1174-18T>A rs1194654045 0.00006
NM_001172509.2(SATB2):c.1778G>A (p.Ser593Asn) rs751007411 0.00006
NM_001172509.2(SATB2):c.2019C>T (p.His673=) rs752933023 0.00006
NM_001172509.2(SATB2):c.2052G>A (p.Val684=) rs200632115 0.00006
NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro) rs12619995 0.00006
NM_001211.6(BUB1B):c.1032G>A (p.Val344=) rs756307061 0.00006
NM_001211.6(BUB1B):c.1443A>G (p.Gln481=) rs754657047 0.00006
NM_001211.6(BUB1B):c.2010-11G>T rs370832226 0.00006
NM_001211.6(BUB1B):c.2284+18C>T rs113609246 0.00006
NM_001378120.1(MBD5):c.1536C>T (p.Ser512=) rs147908860 0.00006
NM_001378120.1(MBD5):c.1999T>C (p.Leu667=) rs529715710 0.00006
NM_001378120.1(MBD5):c.267T>C (p.Asp89=) rs143333632 0.00006
NM_001378120.1(MBD5):c.3726C>T (p.Pro1242=) rs144464864 0.00006
NM_001378120.1(MBD5):c.4139G>A (p.Arg1380Gln) rs368605084 0.00006
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro) rs755937050 0.00006
NM_001379200.1(TBX1):c.198C>T (p.Ala66=) rs1398031445 0.00006
NM_001379200.1(TBX1):c.540-13C>T rs200902332 0.00006
NM_001379200.1(TBX1):c.657C>T (p.Ile219=) rs141186024 0.00006
NM_001379200.1(TBX1):c.666C>T (p.Phe222=) rs546513284 0.00006
NM_002397.5(MEF2C):c.309G>A (p.Ala103=) rs567797470 0.00006
NM_002397.5(MEF2C):c.759A>G (p.Pro253=) rs368575766 0.00006
NM_014679.5(CEP57):c.985A>G (p.Ser329Gly) rs193213400 0.00006
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) rs143705256 0.00006
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser) rs28932174 0.00006
NM_022455.5(NSD1):c.4379-5C>T rs763154004 0.00006
NM_022455.5(NSD1):c.5010C>T (p.Ala1670=) rs1351246894 0.00006
NM_022455.5(NSD1):c.7160C>T (p.Pro2387Leu) rs766700264 0.00006
NM_024426.6(WT1):c.1146T>A (p.Thr382=) rs371168589 0.00006
NM_024426.6(WT1):c.117G>A (p.Arg39=) rs537150542 0.00006
NM_024426.6(WT1):c.1269G>A (p.Glu423=) rs767850636 0.00006
NM_024426.6(WT1):c.1404C>T (p.Ser468=) rs374799820 0.00006
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556 0.00005
NM_000057.4(BLM):c.1881T>C (p.Thr627=) rs148678729 0.00005
NM_000057.4(BLM):c.2025G>A (p.Ala675=) rs781424357 0.00005
NM_000057.4(BLM):c.2049A>G (p.Glu683=) rs201440695 0.00005
NM_000057.4(BLM):c.2599T>C (p.Leu867=) rs370713907 0.00005
NM_000057.4(BLM):c.3359-12T>A rs370837480 0.00005
NM_000057.4(BLM):c.4077-5T>C rs200653178 0.00005
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) rs774367622 0.00005
NM_001211.6(BUB1B):c.2535+19A>G rs748758973 0.00005
NM_001211.6(BUB1B):c.255A>G (p.Thr85=) rs140273483 0.00005
NM_001211.6(BUB1B):c.783A>G (p.Pro261=) rs376912927 0.00005
NM_001378120.1(MBD5):c.1449T>C (p.Ser483=) rs777754350 0.00005
NM_001378120.1(MBD5):c.183G>A (p.Lys61=) rs140522551 0.00005
NM_001379200.1(TBX1):c.624G>A (p.Ser208=) rs754390970 0.00005
NM_001379200.1(TBX1):c.978C>T (p.Ala326=) rs772039142 0.00005
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr) rs796052726 0.00005
NM_014679.5(CEP57):c.1062C>T (p.Asn354=) rs377021503 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) rs756022347 0.00005
NM_022455.5(NSD1):c.4303-4A>G rs775759198 0.00005
NM_024426.6(WT1):c.1059C>T (p.Ile353=) rs527655625 0.00005
NM_024426.6(WT1):c.510C>T (p.Ser170=) rs772890986 0.00005
NM_024426.6(WT1):c.615C>G (p.Pro205=) rs769467940 0.00005
NM_000057.4(BLM):c.1221-8C>T rs1895945158 0.00004
NM_000057.4(BLM):c.1883-13A>G rs575410334 0.00004
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813 0.00004
NM_000057.4(BLM):c.2074+20A>G rs375831667 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000057.4(BLM):c.2555+19C>G rs769922498 0.00004
NM_000057.4(BLM):c.2721G>A (p.Thr907=) rs1009065257 0.00004
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850 0.00004
NM_001172509.2(SATB2):c.1335G>A (p.Val445=) rs547239131 0.00004
NM_001172509.2(SATB2):c.1387-4G>T rs749603983 0.00004
NM_001172509.2(SATB2):c.1467C>T (p.Asp489=) rs370291268 0.00004
NM_001172509.2(SATB2):c.1530A>G (p.Ala510=) rs377035208 0.00004
NM_001172509.2(SATB2):c.1740+19C>T rs757980261 0.00004
NM_001172509.2(SATB2):c.2055C>T (p.Asp685=) rs747832215 0.00004
NM_001172509.2(SATB2):c.219T>G (p.Leu73=) rs150919931 0.00004
NM_001172509.2(SATB2):c.408C>T (p.Asp136=) rs756417252 0.00004
NM_001172509.2(SATB2):c.420C>T (p.Ala140=) rs202223477 0.00004
NM_001172509.2(SATB2):c.42C>G (p.Pro14=) rs773072163 0.00004
NM_001172509.2(SATB2):c.453G>A (p.Thr151=) rs973674250 0.00004
NM_001211.6(BUB1B):c.1290C>T (p.Ala430=) rs376379876 0.00004
NM_001211.6(BUB1B):c.1533G>A (p.Ala511=) rs779879463 0.00004
NM_001211.6(BUB1B):c.1568-16G>A rs372690199 0.00004
NM_001211.6(BUB1B):c.2535+16A>G rs777426066 0.00004
NM_001211.6(BUB1B):c.2994G>A (p.Val998=) rs771453874 0.00004
NM_001378120.1(MBD5):c.113+4A>G rs201821636 0.00004
NM_001378120.1(MBD5):c.2148T>C (p.Ser716=) rs746698199 0.00004
NM_001378120.1(MBD5):c.2370C>T (p.Ser790=) rs376037852 0.00004
NM_001378120.1(MBD5):c.2454G>A (p.Thr818=) rs769275989 0.00004
NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr) rs770801894 0.00004
NM_001378120.1(MBD5):c.327G>A (p.Val109=) rs760258675 0.00004
NM_001378120.1(MBD5):c.3663G>T (p.Gly1221=) rs774912000 0.00004
NM_001378120.1(MBD5):c.3669G>A (p.Gln1223=) rs143854410 0.00004
NM_001378120.1(MBD5):c.385G>A (p.Gly129Arg) rs370534487 0.00004
NM_001378120.1(MBD5):c.3881C>T (p.Pro1294Leu) rs375158010 0.00004
NM_001378120.1(MBD5):c.397+20G>A rs201763502 0.00004
NM_001378120.1(MBD5):c.4088T>C (p.Ile1363Thr) rs748142226 0.00004
NM_001378120.1(MBD5):c.4161T>C (p.His1387=) rs748321288 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) rs776228346 0.00004
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=) rs941116789 0.00004
NM_001379200.1(TBX1):c.201C>G (p.Pro67=) rs1310802135 0.00004
NM_001379200.1(TBX1):c.438-5C>G rs972035685 0.00004
NM_001379200.1(TBX1):c.489C>T (p.Ala163=) rs41298816 0.00004
NM_001379200.1(TBX1):c.867+11G>A rs180798122 0.00004
NM_002397.5(MEF2C):c.111G>A (p.Val37=) rs759783899 0.00004
NM_002397.5(MEF2C):c.1332C>T (p.His444=) rs376439815 0.00004
NM_002397.5(MEF2C):c.252C>T (p.Ile84=) rs780952466 0.00004
NM_002397.5(MEF2C):c.312C>T (p.Asp104=) rs587781034 0.00004
NM_002397.5(MEF2C):c.609C>T (p.Asp203=) rs997965581 0.00004
NM_002397.5(MEF2C):c.871T>C (p.Leu291=) rs747980554 0.00004
NM_014679.5(CEP57):c.1273-14G>A rs765062367 0.00004
NM_014679.5(CEP57):c.48C>T (p.Asn16=) rs974481023 0.00004
NM_014679.5(CEP57):c.808-6A>G rs372413990 0.00004
NM_014679.5(CEP57):c.885+18C>T rs765633450 0.00004
NM_022455.5(NSD1):c.1605A>G (p.Leu535=) rs746977419 0.00004
NM_022455.5(NSD1):c.2425G>A (p.Glu809Lys) rs371421105 0.00004
NM_022455.5(NSD1):c.2586C>T (p.Ser862=) rs752997132 0.00004
NM_022455.5(NSD1):c.2766G>A (p.Thr922=) rs369705297 0.00004
NM_022455.5(NSD1):c.3092G>A (p.Arg1031Gln) rs780306768 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.5007C>T (p.His1669=) rs146414176 0.00004
NM_022455.5(NSD1):c.6259-20G>A rs369478260 0.00004
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433 0.00004
NM_024426.6(WT1):c.1016+15C>T rs752756426 0.00004
NM_024426.6(WT1):c.813G>C (p.Pro271=) rs1341857958 0.00004
NM_000057.4(BLM):c.1245T>C (p.Asp415=) rs768154708 0.00003
NM_000057.4(BLM):c.129A>G (p.Ser43=) rs767605181 0.00003
NM_000057.4(BLM):c.1563A>G (p.Pro521=) rs763118109 0.00003
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.2307+13A>G rs371859766 0.00003
NM_000057.4(BLM):c.345G>A (p.Pro115=) rs374578971 0.00003
NM_000057.4(BLM):c.3501G>A (p.Ala1167=) rs752559933 0.00003
NM_000057.4(BLM):c.3729C>T (p.Thr1243=) rs747293738 0.00003
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) rs149286215 0.00003
NM_000057.4(BLM):c.799+16T>G rs370608122 0.00003
NM_001172509.2(SATB2):c.1174-6A>T rs368537092 0.00003
NM_001172509.2(SATB2):c.1236A>G (p.Leu412=) rs767544833 0.00003
NM_001172509.2(SATB2):c.1398G>A (p.Ser466=) rs377059710 0.00003
NM_001172509.2(SATB2):c.1435G>A (p.Ala479Thr) rs772617927 0.00003
NM_001172509.2(SATB2):c.1542+13T>A rs1046713591 0.00003
NM_001172509.2(SATB2):c.1551G>T (p.Leu517=) rs760937399 0.00003
NM_001172509.2(SATB2):c.163G>C (p.Val55Leu) rs748892556 0.00003
NM_001172509.2(SATB2):c.172T>C (p.Leu58=) rs761710516 0.00003
NM_001172509.2(SATB2):c.2103C>T (p.Asn701=) rs529621505 0.00003
NM_001172509.2(SATB2):c.243C>T (p.His81=) rs372121244 0.00003
NM_001172509.2(SATB2):c.45C>T (p.Asp15=) rs771997100 0.00003
NM_001211.6(BUB1B):c.1058+9G>A rs375125450 0.00003
NM_001211.6(BUB1B):c.1289-8G>A rs375564551 0.00003
NM_001211.6(BUB1B):c.1308A>G (p.Ala436=) rs756405366 0.00003
NM_001211.6(BUB1B):c.1368C>T (p.Ile456=) rs201813238 0.00003
NM_001211.6(BUB1B):c.2536-9A>G rs368585401 0.00003
NM_001211.6(BUB1B):c.2628A>G (p.Ala876=) rs768648860 0.00003
NM_001211.6(BUB1B):c.2817A>G (p.Gln939=) rs777802023 0.00003
NM_001211.6(BUB1B):c.387G>T (p.Gly129=) rs149153123 0.00003
NM_001211.6(BUB1B):c.846T>G (p.Ala282=) rs773703818 0.00003
NM_001378120.1(MBD5):c.1074T>C (p.Leu358=) rs751940096 0.00003
NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile) rs377568191 0.00003
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe) rs768225923 0.00003
NM_001378120.1(MBD5):c.1327G>A (p.Val443Met) rs137977565 0.00003
NM_001378120.1(MBD5):c.1367C>T (p.Ser456Leu) rs775742332 0.00003
NM_001378120.1(MBD5):c.1902A>G (p.Thr634=) rs150800810 0.00003
NM_001378120.1(MBD5):c.1962C>T (p.Asp654=) rs139953766 0.00003
NM_001378120.1(MBD5):c.2519-17T>C rs1038628491 0.00003
NM_001378120.1(MBD5):c.3603G>A (p.Ser1201=) rs138058889 0.00003
NM_001378120.1(MBD5):c.4047C>T (p.Pro1349=) rs367766748 0.00003
NM_001378120.1(MBD5):c.4125G>A (p.Ala1375=) rs142981321 0.00003
NM_001378120.1(MBD5):c.4215T>C (p.His1405=) rs768977000 0.00003
NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln) rs200245855 0.00003
NM_001378120.1(MBD5):c.4566C>T (p.His1522=) rs1354346236 0.00003
NM_001378120.1(MBD5):c.4746G>T (p.Val1582=) rs138337378 0.00003
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) rs779662045 0.00003
NM_001378120.1(MBD5):c.4920C>T (p.Asp1640=) rs768363712 0.00003
NM_001378120.1(MBD5):c.5058T>C (p.His1686=) rs1466985995 0.00003
NM_001378120.1(MBD5):c.81T>G (p.Arg27=) rs746075256 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.943T>G (p.Cys315Gly) rs770076687 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp) rs756543718 0.00003
NM_001379200.1(TBX1):c.1359C>T (p.His453=) rs1220689917 0.00003
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=) rs753192876 0.00003
NM_001379200.1(TBX1):c.1440A>C (p.Ala480=) rs777313046 0.00003
NM_001379200.1(TBX1):c.711+7G>A rs369332029 0.00003
NM_002397.5(MEF2C):c.1299G>C (p.Gly433=) rs771241026 0.00003
NM_002397.5(MEF2C):c.225G>A (p.Pro75=) rs779924552 0.00003
NM_002397.5(MEF2C):c.397T>C (p.Leu133=) rs1345329569 0.00003
NM_002397.5(MEF2C):c.637+19C>G rs371668591 0.00003
NM_002397.5(MEF2C):c.810+14A>G rs376014780 0.00003
NM_014679.5(CEP57):c.1008A>G (p.Val336=) rs933546735 0.00003
NM_022455.5(NSD1):c.1830A>G (p.Gln610=) rs759706066 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_022455.5(NSD1):c.3588G>T (p.Val1196=) rs549662786 0.00003
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln) rs774868314 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.454C>T (p.His152Tyr) rs765845162 0.00003
NM_022455.5(NSD1):c.5532G>A (p.Arg1844=) rs201357386 0.00003
NM_022455.5(NSD1):c.5934A>G (p.Glu1978=) rs747791387 0.00003
NM_022455.5(NSD1):c.6001C>T (p.Leu2001=) rs587784172 0.00003
NM_022455.5(NSD1):c.6468A>G (p.Lys2156=) rs752628095 0.00003
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) rs770522999 0.00003
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu) rs201609442 0.00003
NM_022455.5(NSD1):c.7452A>G (p.Pro2484=) rs146676933 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.1017-8G>A rs561297778 0.00003
NM_024426.6(WT1):c.1038C>T (p.Ser346=) rs750018485 0.00003
NM_024426.6(WT1):c.1116T>C (p.Asp372=) rs901264376 0.00003
NM_024426.6(WT1):c.258C>T (p.Pro86=) rs1389359790 0.00003
NM_024426.6(WT1):c.273G>A (p.Leu91=) rs1396104394 0.00003
NM_024426.6(WT1):c.327G>C (p.Pro109=) rs777059515 0.00003
NM_024426.6(WT1):c.432C>T (p.Phe144=) rs754173303 0.00003
NM_080647.1(TBX1):c.15C>A (p.Thr5=) rs764497467 0.00003
NM_000057.4(BLM):c.1134C>T (p.His378=) rs757896754 0.00002
NM_000057.4(BLM):c.1220+14C>T rs762528536 0.00002
NM_000057.4(BLM):c.1220+9A>G rs775121844 0.00002
NM_000057.4(BLM):c.1236G>A (p.Thr412=) rs762617509 0.00002
NM_000057.4(BLM):c.1308T>C (p.Asp436=) rs140178590 0.00002
NM_000057.4(BLM):c.2194-14A>G rs778980650 0.00002
NM_000057.4(BLM):c.2407-9T>C rs749544427 0.00002
NM_000057.4(BLM):c.2655C>T (p.His885=) rs1404506326 0.00002
NM_000057.4(BLM):c.2823+16A>C rs375317070 0.00002
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554 0.00002
NM_000057.4(BLM):c.3019+11C>A rs776916080 0.00002
NM_000057.4(BLM):c.3019+7T>C rs761087545 0.00002
NM_000057.4(BLM):c.3237C>T (p.Asp1079=) rs148237075 0.00002
NM_000057.4(BLM):c.3504C>T (p.Ile1168=) rs758199564 0.00002
NM_000057.4(BLM):c.3558+15A>G rs557695835 0.00002
NM_000057.4(BLM):c.3559-13C>G rs368473682 0.00002
NM_000057.4(BLM):c.3951G>A (p.Glu1317=) rs138188609 0.00002
NM_000057.4(BLM):c.4128C>T (p.Ile1376=) rs1314592673 0.00002
NM_000057.4(BLM):c.792T>C (p.Asp264=) rs764442592 0.00002
NM_000057.4(BLM):c.894G>A (p.Thr298=) rs762144355 0.00002
NM_000057.4(BLM):c.918A>G (p.Glu306=) rs760806762 0.00002
NM_000057.4(BLM):c.963G>A (p.Thr321=) rs779461745 0.00002
NM_001172509.2(SATB2):c.1212T>C (p.Pro404=) rs1486060390 0.00002
NM_001172509.2(SATB2):c.1239A>G (p.Val413=) rs148608261 0.00002
NM_001172509.2(SATB2):c.1404G>A (p.Pro468=) rs542911998 0.00002
NM_001172509.2(SATB2):c.1509C>T (p.Ala503=) rs771083610 0.00002
NM_001172509.2(SATB2):c.1543-20G>A rs776839849 0.00002
NM_001172509.2(SATB2):c.1740+16C>T rs777264256 0.00002
NM_001172509.2(SATB2):c.1740+9C>T rs745695602 0.00002
NM_001172509.2(SATB2):c.1761T>C (p.Ser587=) rs752279524 0.00002
NM_001172509.2(SATB2):c.1830T>C (p.Ser610=) rs759470075 0.00002
NM_001172509.2(SATB2):c.1842G>A (p.Lys614=) rs756772038 0.00002
NM_001172509.2(SATB2):c.1851T>C (p.Ser617=) rs188200171 0.00002
NM_001172509.2(SATB2):c.1938C>T (p.His646=) rs764543183 0.00002
NM_001172509.2(SATB2):c.2007C>T (p.His669=) rs764418629 0.00002
NM_001172509.2(SATB2):c.2046C>T (p.Ser682=) rs1378818036 0.00002
NM_001172509.2(SATB2):c.381C>T (p.Pro127=) rs746473092 0.00002
NM_001172509.2(SATB2):c.411G>A (p.Ala137=) rs781353036 0.00002
NM_001172509.2(SATB2):c.756A>G (p.Pro252=) rs375364851 0.00002
NM_001172509.2(SATB2):c.846C>T (p.Ile282=) rs373578751 0.00002
NM_001172509.2(SATB2):c.915A>G (p.Gln305=) rs1440871358 0.00002
NM_001211.6(BUB1B):c.1401+18A>G rs2037541338 0.00002
NM_001211.6(BUB1B):c.2143+16C>A rs768994715 0.00002
NM_001211.6(BUB1B):c.2143+20A>G rs993334844 0.00002
NM_001211.6(BUB1B):c.2385+7C>T rs779458273 0.00002
NM_001211.6(BUB1B):c.2481A>G (p.Gln827=) rs76294284 0.00002
NM_001211.6(BUB1B):c.2760G>C (p.Val920=) rs151035388 0.00002
NM_001211.6(BUB1B):c.2958-10A>G rs759331631 0.00002
NM_001211.6(BUB1B):c.576G>A (p.Gln192=) rs761648006 0.00002
NM_001211.6(BUB1B):c.751+9G>A rs372133651 0.00002
NM_001211.6(BUB1B):c.810T>C (p.Ser270=) rs1205669680 0.00002
NM_001378120.1(MBD5):c.1008A>G (p.Pro336=) rs1451243161 0.00002
NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp) rs757922781 0.00002
NM_001378120.1(MBD5):c.1606C>G (p.Pro536Ala) rs748471992 0.00002
NM_001378120.1(MBD5):c.1653A>G (p.Val551=) rs765225789 0.00002
NM_001378120.1(MBD5):c.1700A>G (p.Asn567Ser) rs116095017 0.00002
NM_001378120.1(MBD5):c.1803C>T (p.Ser601=) rs772321704 0.00002
NM_001378120.1(MBD5):c.1827C>T (p.Ala609=) rs761655364 0.00002
NM_001378120.1(MBD5):c.1920T>C (p.Gly640=) rs1031744379 0.00002
NM_001378120.1(MBD5):c.2274C>T (p.Ala758=) rs374820728 0.00002
NM_001378120.1(MBD5):c.2286C>T (p.His762=) rs370574043 0.00002
NM_001378120.1(MBD5):c.258C>T (p.Thr86=) rs542137271 0.00002
NM_001378120.1(MBD5):c.2627G>A (p.Gly876Glu) rs766460176 0.00002
NM_001378120.1(MBD5):c.2678G>A (p.Gly893Asp) rs753761893 0.00002
NM_001378120.1(MBD5):c.2751C>G (p.Ser917Arg) rs935799783 0.00002
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser) rs754193314 0.00002
NM_001378120.1(MBD5):c.3585A>G (p.Gln1195=) rs762160418 0.00002
NM_001378120.1(MBD5):c.3586C>G (p.Leu1196Val) rs765790042 0.00002
NM_001378120.1(MBD5):c.3924C>T (p.Leu1308=) rs146096552 0.00002
NM_001378120.1(MBD5):c.3951C>T (p.Ser1317=) rs762115057 0.00002
NM_001378120.1(MBD5):c.4306C>T (p.Pro1436Ser) rs776446296 0.00002
NM_001378120.1(MBD5):c.4351C>T (p.His1451Tyr) rs753060251 0.00002
NM_001378120.1(MBD5):c.5092C>T (p.Leu1698=) rs763196924 0.00002
NM_001378120.1(MBD5):c.5097C>T (p.Asp1699=) rs755570293 0.00002
NM_001378120.1(MBD5):c.675G>A (p.Ala225=) rs775582219 0.00002
NM_001378120.1(MBD5):c.707C>T (p.Ser236Leu) rs766179352 0.00002
NM_001378120.1(MBD5):c.720G>A (p.Arg240=) rs727503997 0.00002
NM_001378120.1(MBD5):c.917A>G (p.Lys306Arg) rs1278028464 0.00002
NM_001378120.1(MBD5):c.936A>C (p.Lys312Asn) rs142815487 0.00002
NM_001379200.1(TBX1):c.1041G>T (p.Ala347=) rs1381402015 0.00002
NM_001379200.1(TBX1):c.1170C>T (p.Gly390=) rs1936852453 0.00002
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly) rs745858331 0.00002
NM_001379200.1(TBX1):c.1485G>T (p.Pro495=) rs750574356 0.00002
NM_001379200.1(TBX1):c.270C>A (p.Ser90Arg) rs1478778776 0.00002
NM_001379200.1(TBX1):c.393G>A (p.Glu131=) rs892270450 0.00002
NM_001379200.1(TBX1):c.540-12G>A rs1243576480 0.00002
NM_001379200.1(TBX1):c.543C>T (p.Tyr181=) rs772390067 0.00002
NM_001379200.1(TBX1):c.582C>T (p.Ala194=) rs775502763 0.00002
NM_001379200.1(TBX1):c.618G>A (p.Pro206=) rs1177792242 0.00002
NM_002397.5(MEF2C):c.1020C>T (p.Ser340=) rs756799434 0.00002
NM_002397.5(MEF2C):c.489A>G (p.Ser163=) rs781632867 0.00002
NM_002397.5(MEF2C):c.615G>A (p.Thr205=) rs776496777 0.00002
NM_002397.5(MEF2C):c.639G>C (p.Gly213=) rs757188352 0.00002
NM_002397.5(MEF2C):c.810+10A>T rs587783748 0.00002
NM_002397.5(MEF2C):c.822C>T (p.Val274=) rs1282449699 0.00002
NM_002397.5(MEF2C):c.834+16G>A rs760064638 0.00002
NM_002397.5(MEF2C):c.994T>C (p.Ser332Pro) rs200887424 0.00002
NM_014679.5(CEP57):c.1128-10T>C rs754694620 0.00002
NM_014679.5(CEP57):c.46-8T>A rs755051766 0.00002
NM_014679.5(CEP57):c.633A>G (p.Gln211=) rs200535773 0.00002
NM_022455.5(NSD1):c.1176C>T (p.Phe392=) rs763543904 0.00002
NM_022455.5(NSD1):c.1500A>G (p.Arg500=) rs1469000222 0.00002
NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly) rs1046371505 0.00002
NM_022455.5(NSD1):c.1992A>G (p.Glu664=) rs770274186 0.00002
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys) rs771456995 0.00002
NM_022455.5(NSD1):c.222A>G (p.Arg74=) rs201780407 0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.2991C>T (p.Gly997=) rs751017119 0.00002
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu) rs1406037834 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_022455.5(NSD1):c.5147-20A>C rs1239151310 0.00002
NM_022455.5(NSD1):c.5510-10G>A rs767198805 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.7164G>A (p.Pro2388=) rs780619128 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_022455.5(NSD1):c.8025A>G (p.Gln2675=) rs199895437 0.00002
NM_024426.6(WT1):c.1017-4G>C rs1043846933 0.00002
NM_024426.6(WT1):c.1114-15A>T rs776971636 0.00002
NM_024426.6(WT1):c.1264+13G>A rs769034786 0.00002
NM_024426.6(WT1):c.1515C>A (p.Val505=) rs1338629886 0.00002
NM_024426.6(WT1):c.1563G>A (p.Ala521=) rs202118284 0.00002
NM_024426.6(WT1):c.159C>T (p.Ala53=) rs1021307133 0.00002
NM_024426.6(WT1):c.198G>T (p.Ala66=) rs955105743 0.00002
NM_024426.6(WT1):c.297G>A (p.Leu99=) rs1407193832 0.00002
NM_024426.6(WT1):c.417G>A (p.Pro139=) rs758361767 0.00002
NM_024426.6(WT1):c.627C>T (p.Ser209=) rs761530541 0.00002
NM_024426.6(WT1):c.675C>T (p.Val225=) rs1172028723 0.00002
NM_024426.6(WT1):c.687G>C (p.Gly229=) rs760001898 0.00002
NM_024426.6(WT1):c.711C>T (p.Pro237=) rs183263057 0.00002
NM_024426.6(WT1):c.714G>T (p.Ser238=) rs772409488 0.00002
NM_024426.6(WT1):c.784+11G>A rs376463157 0.00002
NM_024426.6(WT1):c.78G>A (p.Gly26=) rs1240715155 0.00002
NM_024426.6(WT1):c.852C>G (p.Gly284=) rs548704325 0.00002
NM_024426.6(WT1):c.996A>G (p.Lys332=) rs758410591 0.00002
NM_000057.4(BLM):c.1038G>A (p.Glu346=) rs1181692024 0.00001
NM_000057.4(BLM):c.1088-15A>G rs757626398 0.00001
NM_000057.4(BLM):c.1088-20A>G rs1895929728 0.00001
NM_000057.4(BLM):c.1191G>C (p.Gly397=) rs780393464 0.00001
NM_000057.4(BLM):c.1220+17C>T rs763676199 0.00001
NM_000057.4(BLM):c.1266T>C (p.Ser422=) rs1895947616 0.00001
NM_000057.4(BLM):c.1275C>A (p.Gly425=) rs1475915995 0.00001
NM_000057.4(BLM):c.1305T>C (p.Leu435=) rs778967807 0.00001
NM_000057.4(BLM):c.1419C>T (p.Thr473=) rs200051680 0.00001
NM_000057.4(BLM):c.1482C>A (p.Thr494=) rs1596229985 0.00001
NM_000057.4(BLM):c.1486T>C (p.Leu496=) rs1596229989 0.00001
NM_000057.4(BLM):c.1497C>T (p.Ser499=) rs540772424 0.00001
NM_000057.4(BLM):c.1536A>G (p.Gly512=) rs777277614 0.00001
NM_000057.4(BLM):c.1551C>T (p.Ser517=) rs775878725 0.00001
NM_000057.4(BLM):c.1566A>G (p.Gly522=) rs1895965477 0.00001
NM_000057.4(BLM):c.159A>G (p.Ser53=) rs753606820 0.00001
NM_000057.4(BLM):c.1674A>T (p.Ile558=) rs770573584 0.00001
NM_000057.4(BLM):c.1695T>C (p.Asp565=) rs1343910502 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.1791A>G (p.Ser597=) rs1895976551 0.00001
NM_000057.4(BLM):c.1797A>G (p.Arg599=) rs745353821 0.00001
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657 0.00001
NM_000057.4(BLM):c.1854C>T (p.Asn618=) rs371519654 0.00001
NM_000057.4(BLM):c.1863G>A (p.Glu621=) rs374965438 0.00001
NM_000057.4(BLM):c.1878T>C (p.Tyr626=) rs1176677177 0.00001
NM_000057.4(BLM):c.1882+20A>T rs773201778 0.00001
NM_000057.4(BLM):c.1905A>G (p.Ala635=) rs747122267 0.00001
NM_000057.4(BLM):c.1926G>A (p.Glu642=) rs763017658 0.00001
NM_000057.4(BLM):c.2017C>T (p.Leu673=) rs1896030349 0.00001
NM_000057.4(BLM):c.2038C>T (p.Leu680=) rs1250342410 0.00001
NM_000057.4(BLM):c.2058T>C (p.Phe686=) rs748410729 0.00001
NM_000057.4(BLM):c.2070G>A (p.Pro690=) rs148078150 0.00001
NM_000057.4(BLM):c.2118T>C (p.Ser706=) rs1896094006 0.00001
NM_000057.4(BLM):c.2169A>G (p.Gln723=) rs781635047 0.00001
NM_000057.4(BLM):c.2193+17C>T rs749297090 0.00001
NM_000057.4(BLM):c.2193+19A>G rs374456610 0.00001
NM_000057.4(BLM):c.2193+9T>C rs780311860 0.00001
NM_000057.4(BLM):c.2194-20T>C rs754006696 0.00001
NM_000057.4(BLM):c.2194-6A>G rs946104255 0.00001
NM_000057.4(BLM):c.2202T>C (p.Ala734=) rs1596235728 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2241A>G (p.Thr747=) rs1060503987 0.00001
NM_000057.4(BLM):c.2244T>C (p.Asn748=) rs1223636319 0.00001
NM_000057.4(BLM):c.2277C>T (p.Ile759=) rs761106964 0.00001
NM_000057.4(BLM):c.227C>T (p.Pro76Leu) rs774515970 0.00001
NM_000057.4(BLM):c.2289A>G (p.Leu763=) rs1567044034 0.00001
NM_000057.4(BLM):c.2307+10T>G rs755168095 0.00001
NM_000057.4(BLM):c.2308-5C>T rs957805754 0.00001
NM_000057.4(BLM):c.2308-6G>A rs1219227761 0.00001
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000 0.00001
NM_000057.4(BLM):c.2325A>G (p.Arg775=) rs1182162934 0.00001
NM_000057.4(BLM):c.2370A>G (p.Ala790=) rs747537954 0.00001
NM_000057.4(BLM):c.2397T>C (p.Cys799=) rs771209978 0.00001
NM_000057.4(BLM):c.2406+12T>C rs988984153 0.00001
NM_000057.4(BLM):c.2407-20G>A rs374279601 0.00001
NM_000057.4(BLM):c.2454C>G (p.Arg818=) rs746409922 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2505C>G (p.Pro835=) rs1023396216 0.00001
NM_000057.4(BLM):c.2517G>A (p.Lys839=) rs1353519492 0.00001
NM_000057.4(BLM):c.252A>G (p.Gln84=) rs370062646 0.00001
NM_000057.4(BLM):c.2550T>C (p.Pro850=) rs749718344 0.00001
NM_000057.4(BLM):c.2555+15G>A rs376896850 0.00001
NM_000057.4(BLM):c.2555+20G>A rs762930185 0.00001
NM_000057.4(BLM):c.2555+8G>A rs1388713132 0.00001
NM_000057.4(BLM):c.2604G>A (p.Pro868=) rs768447097 0.00001
NM_000057.4(BLM):c.2610G>A (p.Lys870=) rs905435014 0.00001
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612 0.00001
NM_000057.4(BLM):c.2647A>C (p.Arg883=) rs1035944262 0.00001
NM_000057.4(BLM):c.2661A>G (p.Pro887=) rs753160480 0.00001
NM_000057.4(BLM):c.2662+13A>G rs778144758 0.00001
NM_000057.4(BLM):c.2662+8C>G rs1330037075 0.00001
NM_000057.4(BLM):c.2663-5G>C rs1161787867 0.00001
NM_000057.4(BLM):c.2679T>C (p.Ile893=) rs751945434 0.00001
NM_000057.4(BLM):c.267C>T (p.Phe89=) rs758297574 0.00001
NM_000057.4(BLM):c.2691C>T (p.Ser897=) rs756155242 0.00001
NM_000057.4(BLM):c.2709C>A (p.Thr903=) rs1555422522 0.00001
NM_000057.4(BLM):c.2763C>T (p.Gly921=) rs1170782980 0.00001
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564 0.00001
NM_000057.4(BLM):c.2787A>G (p.Glu929=) rs764679551 0.00001
NM_000057.4(BLM):c.2823+8T>C rs767928947 0.00001
NM_000057.4(BLM):c.2824-18C>A rs958623858 0.00001
NM_000057.4(BLM):c.2868G>A (p.Pro956=) rs199861261 0.00001
NM_000057.4(BLM):c.2979T>C (p.Tyr993=) rs1896887595 0.00001
NM_000057.4(BLM):c.2985T>C (p.Tyr995=) rs1367612540 0.00001
NM_000057.4(BLM):c.3019+16T>C rs759695033 0.00001
NM_000057.4(BLM):c.3020-11A>G rs1331229405 0.00001
NM_000057.4(BLM):c.3042T>C (p.His1014=) rs1060503986 0.00001
NM_000057.4(BLM):c.3060C>T (p.Phe1020=) rs763020597 0.00001
NM_000057.4(BLM):c.309A>T (p.Gly103=) rs1596218155 0.00001
NM_000057.4(BLM):c.3195T>C (p.Asn1065=) rs1297274221 0.00001
NM_000057.4(BLM):c.3210+10G>T rs765057634 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3211-11T>C rs1205725795 0.00001
NM_000057.4(BLM):c.3211-14C>G rs756488961 0.00001
NM_000057.4(BLM):c.3240T>C (p.Asp1080=) rs1436960569 0.00001
NM_000057.4(BLM):c.3252T>C (p.Ile1084=) rs751147296 0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000057.4(BLM):c.3345C>T (p.Val1115=) rs773893026 0.00001
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241 0.00001
NM_000057.4(BLM):c.3358+15T>C rs761215968 0.00001
NM_000057.4(BLM):c.3358+16T>C rs766854886 0.00001
NM_000057.4(BLM):c.3359-17C>T rs1001673659 0.00001
NM_000057.4(BLM):c.3359-9T>C rs1060503988 0.00001
NM_000057.4(BLM):c.3396A>G (p.Gly1132=) rs1897213577 0.00001
NM_000057.4(BLM):c.3468T>C (p.Asp1156=) rs1325465971 0.00001
NM_000057.4(BLM):c.3474C>T (p.Asp1158=) rs1158977476 0.00001
NM_000057.4(BLM):c.3492T>C (p.Asn1164=) rs762058424 0.00001
NM_000057.4(BLM):c.3510T>C (p.Tyr1170=) rs771325448 0.00001
NM_000057.4(BLM):c.3513G>A (p.Val1171=) rs780615126 0.00001
NM_000057.4(BLM):c.3519C>T (p.Leu1173=) rs769119431 0.00001
NM_000057.4(BLM):c.3534A>G (p.Gln1178=) rs769177306 0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113 0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049 0.00001
NM_000057.4(BLM):c.3660A>G (p.Gly1220=) rs779564538 0.00001
NM_000057.4(BLM):c.3690G>A (p.Gly1230=) rs1177156588 0.00001
NM_000057.4(BLM):c.3699T>C (p.Phe1233=) rs773406498 0.00001
NM_000057.4(BLM):c.372C>T (p.Asn124=) rs776602757 0.00001
NM_000057.4(BLM):c.3752-6G>A rs747358693 0.00001
NM_000057.4(BLM):c.3756T>A (p.Ser1252=) rs771209895 0.00001
NM_000057.4(BLM):c.3822T>C (p.Tyr1274=) rs578242272 0.00001
NM_000057.4(BLM):c.3825T>C (p.Gly1275=) rs1330805869 0.00001
NM_000057.4(BLM):c.3840A>G (p.Ser1280=) rs759221501 0.00001
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443 0.00001
NM_000057.4(BLM):c.3874+12G>A rs563655888 0.00001
NM_000057.4(BLM):c.3874+14C>T rs200469326 0.00001
NM_000057.4(BLM):c.3874+18del rs760501703 0.00001
NM_000057.4(BLM):c.3874+19G>A rs1352718454 0.00001
NM_000057.4(BLM):c.3875-6T>C rs1021714718 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.4023C>T (p.Ala1341=) rs1596273681 0.00001
NM_000057.4(BLM):c.405T>C (p.Ala135=) rs1489975728 0.00001
NM_000057.4(BLM):c.4119C>G (p.Ser1373=) rs1210181566 0.00001
NM_000057.4(BLM):c.4158T>G (p.Ser1386=) rs746522338 0.00001
NM_000057.4(BLM):c.417A>G (p.Leu139=) rs756759106 0.00001
NM_000057.4(BLM):c.4188G>A (p.Leu1396=) rs1226163466 0.00001
NM_000057.4(BLM):c.4206G>A (p.Pro1402=) rs775975894 0.00001
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126 0.00001
NM_000057.4(BLM):c.453C>A (p.Ile151=) rs1200887609 0.00001
NM_000057.4(BLM):c.45T>C (p.Arg15=) rs1458732220 0.00001
NM_000057.4(BLM):c.528C>T (p.His176=) rs1414955135 0.00001
NM_000057.4(BLM):c.540A>T (p.Val180=) rs763776756 0.00001
NM_000057.4(BLM):c.558A>C (p.Ser186=) rs982183816 0.00001
NM_000057.4(BLM):c.609A>G (p.Thr203=) rs1448719185 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.702T>C (p.Asp234=) rs1271054585 0.00001
NM_000057.4(BLM):c.711C>T (p.Cys237=) rs752961612 0.00001
NM_000057.4(BLM):c.870A>G (p.Glu290=) rs757016773 0.00001
NM_000057.4(BLM):c.888T>C (p.Tyr296=) rs139277089 0.00001
NM_000057.4(BLM):c.909T>C (p.Pro303=) rs767770187 0.00001
NM_000057.4(BLM):c.933T>C (p.Ala311=) rs1413246062 0.00001
NM_000057.4(BLM):c.959+17A>G rs1263627625 0.00001
NM_000057.4(BLM):c.959+7T>C rs1274044135 0.00001
NM_000057.4(BLM):c.960-8A>G rs1895773501 0.00001
NM_001172509.2(SATB2):c.1320C>T (p.Ser440=) rs770384540 0.00001
NM_001172509.2(SATB2):c.1380C>T (p.Thr460=) rs996522781 0.00001
NM_001172509.2(SATB2):c.1386+13C>T rs1403696762 0.00001
NM_001172509.2(SATB2):c.1428G>A (p.Val476=) rs753471227 0.00001
NM_001172509.2(SATB2):c.1543-10C>G rs747190227 0.00001
NM_001172509.2(SATB2):c.156C>T (p.Ala52=) rs1401683566 0.00001
NM_001172509.2(SATB2):c.1624C>T (p.Arg542Cys) rs767163210 0.00001
NM_001172509.2(SATB2):c.1656G>A (p.Arg552=) rs763647963 0.00001
NM_001172509.2(SATB2):c.169+7G>A rs1038173269 0.00001
NM_001172509.2(SATB2):c.1734G>A (p.Pro578=) rs937895148 0.00001
NM_001172509.2(SATB2):c.1770C>A (p.Ala590=) rs143857389 0.00001
NM_001172509.2(SATB2):c.1773G>A (p.Lys591=) rs371490566 0.00001
NM_001172509.2(SATB2):c.1827C>T (p.Asp609=) rs1268971989 0.00001
NM_001172509.2(SATB2):c.1999C>A (p.Arg667=) rs751977362 0.00001
NM_001172509.2(SATB2):c.2073C>T (p.Asp691=) rs1692184330 0.00001
NM_001172509.2(SATB2):c.2145T>C (p.Ala715=) rs753933552 0.00001
NM_001172509.2(SATB2):c.223T>C (p.Tyr75His) rs760905348 0.00001
NM_001172509.2(SATB2):c.267A>G (p.Lys89=) rs991579763 0.00001
NM_001172509.2(SATB2):c.303C>G (p.Leu101=) rs770551232 0.00001
NM_001172509.2(SATB2):c.33G>A (p.Arg11=) rs1361297597 0.00001
NM_001172509.2(SATB2):c.342C>A (p.Ala114=) rs756540212 0.00001
NM_001172509.2(SATB2):c.346+15C>T rs1389213053 0.00001
NM_001172509.2(SATB2):c.372C>T (p.Asn124=) rs770710917 0.00001
NM_001172509.2(SATB2):c.441T>C (p.Tyr147=) rs367590994 0.00001
NM_001172509.2(SATB2):c.454T>C (p.Leu152=) rs759337821 0.00001
NM_001172509.2(SATB2):c.474-16T>C rs754983790 0.00001
NM_001172509.2(SATB2):c.501G>A (p.Ala167=) rs761351033 0.00001
NM_001172509.2(SATB2):c.588T>C (p.Pro196=) rs1689733456 0.00001
NM_001172509.2(SATB2):c.598-10T>C rs995048972 0.00001
NM_001172509.2(SATB2):c.639T>C (p.Asn213=) rs1409791746 0.00001
NM_001172509.2(SATB2):c.804C>T (p.Asn268=) rs760068691 0.00001
NM_001211.6(BUB1B):c.1008G>A (p.Val336=) rs765922572 0.00001
NM_001211.6(BUB1B):c.1038G>A (p.Glu346=) rs1566820458 0.00001
NM_001211.6(BUB1B):c.1058+7G>T rs904070234 0.00001
NM_001211.6(BUB1B):c.1059-10G>A rs200485522 0.00001
NM_001211.6(BUB1B):c.1113T>C (p.Pro371=) rs780663453 0.00001
NM_001211.6(BUB1B):c.1288+13C>T rs778499288 0.00001
NM_001211.6(BUB1B):c.1289-9T>C rs763327688 0.00001
NM_001211.6(BUB1B):c.132A>G (p.Ala44=) rs371958222 0.00001
NM_001211.6(BUB1B):c.1419T>C (p.Pro473=) rs1004969635 0.00001
NM_001211.6(BUB1B):c.1517+7C>G rs752429596 0.00001
NM_001211.6(BUB1B):c.156C>T (p.Asn52=) rs1214786359 0.00001
NM_001211.6(BUB1B):c.1587C>T (p.Ser529=) rs374320185 0.00001
NM_001211.6(BUB1B):c.15G>A (p.Lys5=) rs374433718 0.00001
NM_001211.6(BUB1B):c.1628+8del rs1159029463 0.00001
NM_001211.6(BUB1B):c.1671C>G (p.Pro557=) rs1236664633 0.00001
NM_001211.6(BUB1B):c.1725A>C (p.Pro575=) rs1042674657 0.00001
NM_001211.6(BUB1B):c.180-7A>G rs750125592 0.00001
NM_001211.6(BUB1B):c.1977C>A (p.Ile659=) rs992499879 0.00001
NM_001211.6(BUB1B):c.2010-19T>A rs769699093 0.00001
NM_001211.6(BUB1B):c.2144-14C>T rs753821747 0.00001
NM_001211.6(BUB1B):c.2163A>G (p.Pro721=) rs746054575 0.00001
NM_001211.6(BUB1B):c.2285-12C>T rs761247619 0.00001
NM_001211.6(BUB1B):c.2386-4A>G rs752871512 0.00001
NM_001211.6(BUB1B):c.2386-6T>C rs767742757 0.00001
NM_001211.6(BUB1B):c.2386-9G>A rs1189315798 0.00001
NM_001211.6(BUB1B):c.240-11C>T rs779021486 0.00001
NM_001211.6(BUB1B):c.240-9C>A rs372081557 0.00001
NM_001211.6(BUB1B):c.2406A>G (p.Pro802=) rs757885158 0.00001
NM_001211.6(BUB1B):c.2454T>C (p.Asp818=) rs749203600 0.00001
NM_001211.6(BUB1B):c.2535+15A>G rs1446976292 0.00001
NM_001211.6(BUB1B):c.2634A>C (p.Ile878=) rs1233769017 0.00001
NM_001211.6(BUB1B):c.2667T>C (p.Ile889=) rs901161308 0.00001
NM_001211.6(BUB1B):c.2784C>T (p.Ser928=) rs139066741 0.00001
NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg) rs772525026 0.00001
NM_001211.6(BUB1B):c.2889A>G (p.Leu963=) rs768869879 0.00001
NM_001211.6(BUB1B):c.2957+16T>C rs767194740 0.00001
NM_001211.6(BUB1B):c.2957+17G>A rs752575105 0.00001
NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=) rs576684184 0.00001
NM_001211.6(BUB1B):c.330A>G (p.Gln110=) rs758347429 0.00001
NM_001211.6(BUB1B):c.36-8C>T rs780399190 0.00001
NM_001211.6(BUB1B):c.567A>G (p.Leu189=) rs779639976 0.00001
NM_001211.6(BUB1B):c.582-14T>A rs756555949 0.00001
NM_001211.6(BUB1B):c.60T>C (p.Asp20=) rs770968419 0.00001
NM_001211.6(BUB1B):c.636A>G (p.Glu212=) rs769213287 0.00001
NM_001211.6(BUB1B):c.669A>G (p.Gln223=) rs534752806 0.00001
NM_001211.6(BUB1B):c.732T>A (p.Arg244=) rs780852497 0.00001
NM_001211.6(BUB1B):c.751+12A>C rs771058347 0.00001
NM_001211.6(BUB1B):c.967-4C>G rs1199649373 0.00001
NM_001378120.1(MBD5):c.1104A>C (p.Pro368=) rs756273559 0.00001
NM_001378120.1(MBD5):c.1128T>C (p.Ile376=) rs1680695737 0.00001
NM_001378120.1(MBD5):c.113+14A>G rs759575165 0.00001
NM_001378120.1(MBD5):c.114-19T>G rs745877259 0.00001
NM_001378120.1(MBD5):c.1147T>C (p.Ser383Pro) rs1553518530 0.00001
NM_001378120.1(MBD5):c.1194T>G (p.Pro398=) rs1559086405 0.00001
NM_001378120.1(MBD5):c.1232C>T (p.Thr411Ile) rs535000990 0.00001
NM_001378120.1(MBD5):c.1245T>C (p.Gly415=) rs1483172185 0.00001
NM_001378120.1(MBD5):c.1266T>C (p.His422=) rs371026811 0.00001
NM_001378120.1(MBD5):c.1269A>T (p.Val423=) rs746576866 0.00001
NM_001378120.1(MBD5):c.1326C>T (p.Pro442=) rs190279556 0.00001
NM_001378120.1(MBD5):c.1468C>G (p.Pro490Ala) rs1165270808 0.00001
NM_001378120.1(MBD5):c.1509A>G (p.Ser503=) rs1465502500 0.00001
NM_001378120.1(MBD5):c.1524T>A (p.Pro508=) rs773043343 0.00001
NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn) rs1465733702 0.00001
NM_001378120.1(MBD5):c.1602T>C (p.Asn534=) rs768359954 0.00001
NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr) rs1422887607 0.00001
NM_001378120.1(MBD5):c.171T>C (p.Asp57=) rs1707126434 0.00001
NM_001378120.1(MBD5):c.1793A>G (p.Asn598Ser) rs774519380 0.00001
NM_001378120.1(MBD5):c.1884C>G (p.Ala628=) rs906942779 0.00001
NM_001378120.1(MBD5):c.195A>G (p.Glu65=) rs1480609393 0.00001
NM_001378120.1(MBD5):c.1969C>A (p.Arg657=) rs112334672 0.00001
NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser) rs766104877 0.00001
NM_001378120.1(MBD5):c.2004T>C (p.Ser668=) rs1451790598 0.00001
NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly) rs1376331579 0.00001
NM_001378120.1(MBD5):c.2097T>C (p.Ser699=) rs1171949031 0.00001
NM_001378120.1(MBD5):c.211C>T (p.Pro71Ser) rs770840755 0.00001
NM_001378120.1(MBD5):c.216+15A>G rs759004187 0.00001
NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe) rs1438163020 0.00001
NM_001378120.1(MBD5):c.2277G>A (p.Val759=) rs750839601 0.00001
NM_001378120.1(MBD5):c.2295C>T (p.Asn765=) rs752044751 0.00001
NM_001378120.1(MBD5):c.2304T>C (p.Phe768=) rs115385046 0.00001
NM_001378120.1(MBD5):c.24C>T (p.Asp8=) rs751181406 0.00001
NM_001378120.1(MBD5):c.2519-7A>G rs200412749 0.00001
NM_001378120.1(MBD5):c.2520C>T (p.Gly840=) rs201649831 0.00001
NM_001378120.1(MBD5):c.2550A>G (p.Ile850Met) rs756787235 0.00001
NM_001378120.1(MBD5):c.2553G>A (p.Ala851=) rs559879867 0.00001
NM_001378120.1(MBD5):c.2604C>T (p.Gly868=) rs762047043 0.00001
NM_001378120.1(MBD5):c.2647C>T (p.Leu883=) rs1378904136 0.00001
NM_001378120.1(MBD5):c.264A>G (p.Glu88=) rs1385855105 0.00001
NM_001378120.1(MBD5):c.2688C>T (p.His896=) rs1681222021 0.00001
NM_001378120.1(MBD5):c.2689G>T (p.Ala897Ser) rs778516851 0.00001
NM_001378120.1(MBD5):c.3545-10C>G rs1574479997 0.00001
NM_001378120.1(MBD5):c.3597A>G (p.Leu1199=) rs968871300 0.00001
NM_001378120.1(MBD5):c.3651A>G (p.Gln1217=) rs777597807 0.00001
NM_001378120.1(MBD5):c.3753+18G>A rs768223778 0.00001
NM_001378120.1(MBD5):c.3754-6T>C rs149825755 0.00001
NM_001378120.1(MBD5):c.3762G>A (p.Met1254Ile) rs373991655 0.00001
NM_001378120.1(MBD5):c.384C>T (p.Pro128=) rs753595652 0.00001
NM_001378120.1(MBD5):c.3874T>C (p.Leu1292=) rs959320564 0.00001
NM_001378120.1(MBD5):c.3882G>A (p.Pro1294=) rs752275705 0.00001
NM_001378120.1(MBD5):c.3891C>T (p.Asp1297=) rs1359066274 0.00001
NM_001378120.1(MBD5):c.3897T>C (p.Ser1299=) rs1377963134 0.00001
NM_001378120.1(MBD5):c.3918T>C (p.Asp1306=) rs1004247100 0.00001
NM_001378120.1(MBD5):c.3927T>A (p.Val1309=) rs1574484414 0.00001
NM_001378120.1(MBD5):c.3930G>T (p.Val1310=) rs776127313 0.00001
NM_001378120.1(MBD5):c.3965A>G (p.Tyr1322Cys) rs1234231456 0.00001
NM_001378120.1(MBD5):c.397+14T>G rs376866744 0.00001
NM_001378120.1(MBD5):c.3979G>A (p.Asp1327Asn) rs752647756 0.00001
NM_001378120.1(MBD5):c.4029T>C (p.Ser1343=) rs1316838361 0.00001
NM_001378120.1(MBD5):c.4106T>C (p.Leu1369Pro) rs1406103855 0.00001
NM_001378120.1(MBD5):c.4131T>C (p.Ile1377=) rs1489981026 0.00001
NM_001378120.1(MBD5):c.4134T>C (p.His1378=) rs1051689897 0.00001
NM_001378120.1(MBD5):c.4193G>A (p.Arg1398Gln) rs727503999 0.00001
NM_001378120.1(MBD5):c.4218G>A (p.Gly1406=) rs1014000010 0.00001
NM_001378120.1(MBD5):c.4231G>A (p.Glu1411Lys) rs571209967 0.00001
NM_001378120.1(MBD5):c.4318C>A (p.Arg1440=) rs978179634 0.00001
NM_001378120.1(MBD5):c.4335C>T (p.Tyr1445=) rs368825815 0.00001
NM_001378120.1(MBD5):c.4396A>G (p.Asn1466Asp) rs778221567 0.00001
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu) rs773267074 0.00001
NM_001378120.1(MBD5):c.4467G>T (p.Gly1489=) rs376625886 0.00001
NM_001378120.1(MBD5):c.4592G>T (p.Ser1531Ile) rs750493021 0.00001
NM_001378120.1(MBD5):c.4626G>A (p.Lys1542=) rs1467670256 0.00001
NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile) rs749436847 0.00001
NM_001378120.1(MBD5):c.4713A>G (p.Gly1571=) rs1470745744 0.00001
NM_001378120.1(MBD5):c.4737T>C (p.Asn1579=) rs147744781 0.00001
NM_001378120.1(MBD5):c.4827A>C (p.Ile1609=) rs768275565 0.00001
NM_001378120.1(MBD5):c.4923C>T (p.Asp1641=) rs747736779 0.00001
NM_001378120.1(MBD5):c.4929C>T (p.His1643=) rs773406626 0.00001
NM_001378120.1(MBD5):c.4951G>A (p.Glu1651Lys) rs577955398 0.00001
NM_001378120.1(MBD5):c.4971C>T (p.Pro1657=) rs761003936 0.00001
NM_001378120.1(MBD5):c.5014C>T (p.Arg1672Cys) rs767034398 0.00001
NM_001378120.1(MBD5):c.5015G>A (p.Arg1672His) rs150519311 0.00001
NM_001378120.1(MBD5):c.502T>C (p.Phe168Leu) rs1225184691 0.00001
NM_001378120.1(MBD5):c.5113-10T>G rs775307238 0.00001
NM_001378120.1(MBD5):c.5163G>A (p.Lys1721=) rs1057522299 0.00001
NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr) rs773716719 0.00001
NM_001378120.1(MBD5):c.549A>G (p.Val183=) rs1327901967 0.00001
NM_001378120.1(MBD5):c.573A>G (p.Gln191=) rs188689135 0.00001
NM_001378120.1(MBD5):c.580C>A (p.Leu194Ile) rs767622325 0.00001
NM_001378120.1(MBD5):c.588T>C (p.Pro196=) rs373675091 0.00001
NM_001378120.1(MBD5):c.607T>C (p.Leu203=) rs766270027 0.00001
NM_001378120.1(MBD5):c.60A>G (p.Gln20=) rs1057522537 0.00001
NM_001378120.1(MBD5):c.682G>A (p.Gly228Ser) rs1321017970 0.00001
NM_001378120.1(MBD5):c.693A>T (p.Ile231=) rs1016661590 0.00001
NM_001378120.1(MBD5):c.798T>A (p.Ile266=) rs1208664164 0.00001
NM_001378120.1(MBD5):c.974G>A (p.Arg325Gln) rs374866920 0.00001
NM_001379200.1(TBX1):c.1008C>G (p.Ser336=) rs1489288021 0.00001
NM_001379200.1(TBX1):c.1026C>A (p.Gly342=) rs1360989561 0.00001
NM_001379200.1(TBX1):c.1037-10C>T rs1187093140 0.00001
NM_001379200.1(TBX1):c.1037-18C>T rs1464749962 0.00001
NM_001379200.1(TBX1):c.1188C>T (p.Gly396=) rs1046003511 0.00001
NM_001379200.1(TBX1):c.1221C>T (p.Pro407=) rs1305509653 0.00001
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser) rs757648761 0.00001
NM_001379200.1(TBX1):c.1245C>T (p.Gly415=) rs780344405 0.00001
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=) rs755047093 0.00001
NM_001379200.1(TBX1):c.1251G>A (p.Ser417=) rs770781746 0.00001
NM_001379200.1(TBX1):c.1323G>A (p.Arg441=) rs1228904807 0.00001
NM_001379200.1(TBX1):c.1329G>A (p.Ala443=) rs772860144 0.00001
NM_001379200.1(TBX1):c.1371G>A (p.Pro457=) rs768572721 0.00001
NM_001379200.1(TBX1):c.1377G>C (p.Ala459=) rs771540171 0.00001
NM_001379200.1(TBX1):c.1392C>T (p.His464=) rs777103863 0.00001
NM_001379200.1(TBX1):c.1425C>T (p.Ala475=) rs754705790 0.00001
NM_001379200.1(TBX1):c.1437C>T (p.Ala479=) rs1415301935 0.00001
NM_001379200.1(TBX1):c.1446C>G (p.Ala482=) rs770702512 0.00001
NM_001379200.1(TBX1):c.1446C>T (p.Ala482=) rs770702512 0.00001
NM_001379200.1(TBX1):c.279C>T (p.Ala93=) rs1191392752 0.00001
NM_001379200.1(TBX1):c.318C>G (p.Ala106=) rs767905417 0.00001
NM_001379200.1(TBX1):c.437+10C>T rs765377233 0.00001
NM_001379200.1(TBX1):c.438-7C>A rs199903273 0.00001
NM_001379200.1(TBX1):c.525C>T (p.Asp175=) rs538317719 0.00001
NM_001379200.1(TBX1):c.549C>T (p.Phe183=) rs1468073803 0.00001
NM_001379200.1(TBX1):c.588T>C (p.Pro196=) rs1936758322 0.00001
NM_001379200.1(TBX1):c.636C>T (p.Gly212=) rs779173153 0.00001
NM_001379200.1(TBX1):c.663C>T (p.Ser221=) rs1438172581 0.00001
NM_001379200.1(TBX1):c.699C>T (p.Asp233=) rs367657296 0.00001
NM_001379200.1(TBX1):c.69G>C (p.Thr23=) rs1482857023 0.00001
NM_001379200.1(TBX1):c.768C>T (p.Asp256=) rs1266161483 0.00001
NM_001379200.1(TBX1):c.780T>C (p.Asp260=) rs1936784892 0.00001
NM_001379200.1(TBX1):c.822C>T (p.Phe274=) rs763559631 0.00001
NM_001379200.1(TBX1):c.831A>T (p.Thr277=) rs1182771166 0.00001
NM_001379200.1(TBX1):c.868-11C>T rs1936811503 0.00001
NM_001379200.1(TBX1):c.868-19C>T rs1201011175 0.00001
NM_001379200.1(TBX1):c.935+13C>T rs779209396 0.00001
NM_001379200.1(TBX1):c.936-11C>A rs917326981 0.00001
NM_002397.5(MEF2C):c.1005G>C (p.Gly335=) rs1053127005 0.00001
NM_002397.5(MEF2C):c.1014C>T (p.Thr338=) rs1404943567 0.00001
NM_002397.5(MEF2C):c.1041A>C (p.Val347=) rs1426509656 0.00001
NM_002397.5(MEF2C):c.1218G>A (p.Ser406=) rs759655835 0.00001
NM_002397.5(MEF2C):c.1290G>C (p.Ser430=) rs745534524 0.00001
NM_002397.5(MEF2C):c.1296C>T (p.Asp432=) rs756839313 0.00001
NM_002397.5(MEF2C):c.1416A>G (p.Ala472=) rs1353760829 0.00001
NM_002397.5(MEF2C):c.210G>A (p.Thr70=) rs1250050314 0.00001
NM_002397.5(MEF2C):c.219C>T (p.Asn73=) rs768621677 0.00001
NM_002397.5(MEF2C):c.237G>A (p.Arg79=) rs1799619981 0.00001
NM_002397.5(MEF2C):c.258+14C>T rs779827174 0.00001
NM_002397.5(MEF2C):c.261G>A (p.Thr87=) rs777529202 0.00001
NM_002397.5(MEF2C):c.308C>T (p.Ala103Val) rs755436703 0.00001
NM_002397.5(MEF2C):c.423C>T (p.Phe141=) rs774945849 0.00001
NM_002397.5(MEF2C):c.447G>C (p.Val149=) rs1554112223 0.00001
NM_002397.5(MEF2C):c.450C>T (p.Ser150=) rs1380809389 0.00001
NM_002397.5(MEF2C):c.465G>A (p.Leu155=) rs1256206599 0.00001
NM_002397.5(MEF2C):c.531G>A (p.Leu177=) rs371858773 0.00001
NM_002397.5(MEF2C):c.54+16T>A rs953851573 0.00001
NM_002397.5(MEF2C):c.55-9T>G rs1328901581 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002397.5(MEF2C):c.589+19G>A rs1460049267 0.00001
NM_002397.5(MEF2C):c.645G>T (p.Gly215=) rs1406989584 0.00001
NM_002397.5(MEF2C):c.798G>A (p.Thr266=) rs761222463 0.00001
NM_002397.5(MEF2C):c.861G>A (p.Ser287=) rs185655344 0.00001
NM_002397.5(MEF2C):c.887T>C (p.Val296Ala) rs765881880 0.00001
NM_002397.5(MEF2C):c.936A>G (p.Pro312=) rs763339882 0.00001
NM_014679.5(CEP57):c.1078T>C (p.Leu360=) rs769977771 0.00001
NM_014679.5(CEP57):c.111A>G (p.Val37=) rs1400701790 0.00001
NM_014679.5(CEP57):c.1134C>T (p.His378=) rs1326479813 0.00001
NM_014679.5(CEP57):c.1164G>A (p.Ser388=) rs1463857205 0.00001
NM_014679.5(CEP57):c.1233A>G (p.Lys411=) rs753801234 0.00001
NM_014679.5(CEP57):c.123G>A (p.Ser41=) rs200083050 0.00001
NM_014679.5(CEP57):c.1272+12T>G rs768991658 0.00001
NM_014679.5(CEP57):c.1374G>A (p.Gly458=) rs1364380694 0.00001
NM_014679.5(CEP57):c.1377C>T (p.Thr459=) rs144292940 0.00001
NM_014679.5(CEP57):c.150A>C (p.Leu50=) rs190360114 0.00001
NM_014679.5(CEP57):c.174A>G (p.Thr58=) rs772710410 0.00001
NM_014679.5(CEP57):c.303A>G (p.Thr101=) rs775279360 0.00001
NM_014679.5(CEP57):c.36T>A (p.Ser12=) rs749098441 0.00001
NM_014679.5(CEP57):c.383-11A>T rs549865234 0.00001
NM_014679.5(CEP57):c.427T>C (p.Leu143=) rs899359299 0.00001
NM_014679.5(CEP57):c.46-9A>T rs780066541 0.00001
NM_014679.5(CEP57):c.471C>T (p.Ala157=) rs753111395 0.00001
NM_014679.5(CEP57):c.510C>G (p.Ser170=) rs201373134 0.00001
NM_014679.5(CEP57):c.51C>T (p.Ser17=) rs781312646 0.00001
NM_014679.5(CEP57):c.561A>G (p.Glu187=) rs1471190034 0.00001
NM_014679.5(CEP57):c.565T>C (p.Leu189=) rs759061888 0.00001
NM_014679.5(CEP57):c.621+7G>T rs1029266260 0.00001
NM_014679.5(CEP57):c.669A>G (p.Glu223=) rs751672542 0.00001
NM_014679.5(CEP57):c.732C>A (p.Ile244=) rs537497503 0.00001
NM_014679.5(CEP57):c.885+19G>A rs750852994 0.00001
NM_014679.5(CEP57):c.925C>T (p.Leu309Phe) rs548800686 0.00001
NM_022455.5(NSD1):c.1035G>A (p.Pro345=) rs776701573 0.00001
NM_022455.5(NSD1):c.1173A>G (p.Gln391=) rs146581653 0.00001
NM_022455.5(NSD1):c.1230G>A (p.Arg410=) rs1312457601 0.00001
NM_022455.5(NSD1):c.1252T>C (p.Leu418=) rs201329783 0.00001
NM_022455.5(NSD1):c.1290G>A (p.Gln430=) rs535674820 0.00001
NM_022455.5(NSD1):c.1716C>T (p.Ser572=) rs375093905 0.00001
NM_022455.5(NSD1):c.1842G>A (p.Val614=) rs761181063 0.00001
NM_022455.5(NSD1):c.2007C>T (p.Phe669=) rs530934556 0.00001
NM_022455.5(NSD1):c.2103G>A (p.Lys701=) rs727504053 0.00001
NM_022455.5(NSD1):c.2331A>C (p.Leu777=) rs772447375 0.00001
NM_022455.5(NSD1):c.2340G>A (p.Ser780=) rs766703389 0.00001
NM_022455.5(NSD1):c.2475C>T (p.Ala825=) rs781498491 0.00001
NM_022455.5(NSD1):c.3201A>G (p.Val1067=) rs771361976 0.00001
NM_022455.5(NSD1):c.331A>G (p.Ile111Val) rs1201715787 0.00001
NM_022455.5(NSD1):c.3426C>T (p.Asn1142=) rs1182714953 0.00001
NM_022455.5(NSD1):c.352C>G (p.Pro118Ala) rs587784102 0.00001
NM_022455.5(NSD1):c.3921+9C>T rs192246663 0.00001
NM_022455.5(NSD1):c.4074G>A (p.Gln1358=) rs777941389 0.00001
NM_022455.5(NSD1):c.4081C>G (p.Leu1361Val) rs748973344 0.00001
NM_022455.5(NSD1):c.4551A>G (p.Glu1517=) rs377275787 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_022455.5(NSD1):c.5067C>T (p.Cys1689=) rs1313604020 0.00001
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=) rs1581507735 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
NM_022455.5(NSD1):c.6387G>A (p.Gln2129=) rs998492947 0.00001
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=) rs771993179 0.00001
NM_022455.5(NSD1):c.6480G>A (p.Pro2160=) rs587784203 0.00001
NM_022455.5(NSD1):c.7152G>C (p.Leu2384=) rs758847471 0.00001
NM_022455.5(NSD1):c.7753G>A (p.Gly2585Arg) rs140839289 0.00001
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=) rs398124388 0.00001
NM_022455.5(NSD1):c.7780G>A (p.Ala2594Thr) rs146010779 0.00001
NM_022455.5(NSD1):c.7809C>G (p.Leu2603=) rs769301382 0.00001
NM_024426.6(WT1):c.1008G>A (p.Gly336=) rs1369099437 0.00001
NM_024426.6(WT1):c.1016+9A>G rs772132710 0.00001
NM_024426.6(WT1):c.1017-19C>T rs1398407708 0.00001
NM_024426.6(WT1):c.1029G>A (p.Gly343=) rs752102247 0.00001
NM_024426.6(WT1):c.1035G>A (p.Glu345=) rs757962229 0.00001
NM_024426.6(WT1):c.1053G>A (p.Thr351=) rs1260693060 0.00001
NM_024426.6(WT1):c.1113+20C>T rs1852095690 0.00001
NM_024426.6(WT1):c.115C>A (p.Arg39=) rs763147828 0.00001
NM_024426.6(WT1):c.120C>T (p.Asp40=) rs1431129227 0.00001
NM_024426.6(WT1):c.1278C>T (p.Tyr426=) rs759955361 0.00001
NM_024426.6(WT1):c.1281G>A (p.Gln427=) rs774650640 0.00001
NM_024426.6(WT1):c.1355-7C>T rs767729335 0.00001
NM_024426.6(WT1):c.1371G>A (p.Gln457=) rs546743811 0.00001
NM_024426.6(WT1):c.1410C>T (p.His470=) rs1450267173 0.00001
NM_024426.6(WT1):c.1434T>C (p.His478=) rs761414130 0.00001
NM_024426.6(WT1):c.1447+20C>T rs776384327 0.00001
NM_024426.6(WT1):c.1448-7T>C rs1392191365 0.00001
NM_024426.6(WT1):c.1458C>A (p.Pro486=) rs1220372055 0.00001
NM_024426.6(WT1):c.1554C>T (p.Leu518=) rs267602848 0.00001
NM_024426.6(WT1):c.1568G>A (p.Ter523=) rs148856160 0.00001
NM_024426.6(WT1):c.186G>A (p.Arg62=) rs1294714508 0.00001
NM_024426.6(WT1):c.195G>A (p.Gly65=) rs1439699290 0.00001
NM_024426.6(WT1):c.246C>T (p.Asn82=) rs1205117425 0.00001
NM_024426.6(WT1):c.255G>A (p.Leu85=) rs1239647129 0.00001
NM_024426.6(WT1):c.27G>A (p.Pro9=) rs556835183 0.00001
NM_024426.6(WT1):c.300T>A (p.Pro100=) rs1255257323 0.00001
NM_024426.6(WT1):c.333G>T (p.Leu111=) rs1853459139 0.00001
NM_024426.6(WT1):c.33C>T (p.Ser11=) rs1352278629 0.00001
NM_024426.6(WT1):c.366G>A (p.Gly122=) rs1362739411 0.00001
NM_024426.6(WT1):c.369G>C (p.Ser123=) rs1485992444 0.00001
NM_024426.6(WT1):c.36G>T (p.Thr12=) rs1313371480 0.00001
NM_024426.6(WT1):c.429C>G (p.Ser143=) rs531076591 0.00001
NM_024426.6(WT1):c.444G>A (p.Glu148=) rs761166030 0.00001
NM_024426.6(WT1):c.459C>T (p.Gly153=) rs1309250331 0.00001
NM_024426.6(WT1):c.468G>T (p.Pro156=) rs961309280 0.00001
NM_024426.6(WT1):c.480G>A (p.Gln160=) rs758900425 0.00001
NM_024426.6(WT1):c.531C>T (p.Ala177=) rs1354094843 0.00001
NM_024426.6(WT1):c.549G>A (p.Gly183=) rs1199167878 0.00001
NM_024426.6(WT1):c.54G>A (p.Ala18=) rs1409626312 0.00001
NM_024426.6(WT1):c.585C>T (p.Ser195=) rs1332888095 0.00001
NM_024426.6(WT1):c.588C>A (p.Gly196=) rs1853436844 0.00001
NM_024426.6(WT1):c.619C>T (p.Leu207=) rs1060504180 0.00001
NM_024426.6(WT1):c.661+8G>A rs1313565005 0.00001
NM_024426.6(WT1):c.662-17C>T rs776846827 0.00001
NM_024426.6(WT1):c.662-19C>T rs761813691 0.00001
NM_024426.6(WT1):c.662-5C>T rs780259089 0.00001
NM_024426.6(WT1):c.672G>C (p.Thr224=) rs756695525 0.00001
NM_024426.6(WT1):c.741C>T (p.His247=) rs1050903370 0.00001
NM_024426.6(WT1):c.75C>T (p.Ser25=) rs1417997475 0.00001
NM_024426.6(WT1):c.777C>T (p.Gly259=) rs1395854761 0.00001
NM_024426.6(WT1):c.780G>T (p.Ser260=) rs1403311573 0.00001
NM_024426.6(WT1):c.784+17A>G rs1458877359 0.00001
NM_024426.6(WT1):c.810C>A (p.Pro270=) rs1357760274 0.00001
NM_024426.6(WT1):c.819T>C (p.Tyr273=) rs766642594 0.00001
NM_024426.6(WT1):c.81T>C (p.Pro27=) rs755007049 0.00001
NM_024426.6(WT1):c.846C>T (p.Cys282=) rs1281989931 0.00001
NM_024426.6(WT1):c.887+11G>T rs1286407878 0.00001
NM_024426.6(WT1):c.887+19C>G rs755113185 0.00001
NM_024426.6(WT1):c.887+7A>G rs1301545818 0.00001
NM_024426.6(WT1):c.945C>T (p.Asn315=) rs775085343 0.00001
NM_024426.6(WT1):c.965+11C>A rs905888905 0.00001
NM_024426.6(WT1):c.966-16T>A rs1224574539 0.00001
NM_024426.6(WT1):c.966-17C>T rs1247254852 0.00001
NM_024426.6(WT1):c.966-19A>T rs1488183155 0.00001
NC_000002.11:g.(?_149216328)_(149270510_?)dup
NC_000002.11:g.(?_200136934)_(200320760_?)dup
NC_000015.9:g.(?_91305197)_(91306180_?)del
NM_000057.4(BLM):c.1008C>T (p.Ser336=) rs1490955099
NM_000057.4(BLM):c.1011A>T (p.Thr337=) rs773511833
NM_000057.4(BLM):c.1014A>C (p.Ser338=) rs1251803802
NM_000057.4(BLM):c.1023T>C (p.Leu341=)
NM_000057.4(BLM):c.1023T>G (p.Leu341=) rs28385006
NM_000057.4(BLM):c.1041A>G (p.Lys347=)
NM_000057.4(BLM):c.1071C>T (p.Thr357=) rs1596223942
NM_000057.4(BLM):c.1074C>T (p.Ser358=) rs372459059
NM_000057.4(BLM):c.1077A>G (p.Thr359=) rs1361847926
NM_000057.4(BLM):c.1083T>C (p.Cys361=)
NM_000057.4(BLM):c.1087+11T>C rs2151152365
NM_000057.4(BLM):c.1087+12A>G
NM_000057.4(BLM):c.1087+15T>G
NM_000057.4(BLM):c.1087+19A>G
NM_000057.4(BLM):c.1087+20C>T rs1186216476
NM_000057.4(BLM):c.1087+7G>A rs2151152360
NM_000057.4(BLM):c.1087+8C>A rs1895780097
NM_000057.4(BLM):c.1087+9A>C
NM_000057.4(BLM):c.1088-13A>T
NM_000057.4(BLM):c.1088-17A>G rs747396397
NM_000057.4(BLM):c.1088-17_1088-15del rs750254937
NM_000057.4(BLM):c.1088-18A>G rs2151157054
NM_000057.4(BLM):c.1088-19C>G
NM_000057.4(BLM):c.1088-9A>T
NM_000057.4(BLM):c.1089T>C (p.Ala363=) rs2151157107
NM_000057.4(BLM):c.1092A>G (p.Arg364=) rs2151157122
NM_000057.4(BLM):c.1101T>C (p.Ser367=)
NM_000057.4(BLM):c.1107G>A (p.Gln369=) rs1895931307
NM_000057.4(BLM):c.1110G>A (p.Gln370=) rs2151157206
NM_000057.4(BLM):c.1113G>A (p.Gln371=) rs760446922
NM_000057.4(BLM):c.1125G>A (p.Val375=) rs2151157267
NM_000057.4(BLM):c.1131G>A (p.Glu377=) rs764842587
NM_000057.4(BLM):c.1164T>C (p.Asp388=) rs2151157391
NM_000057.4(BLM):c.1180T>C (p.Leu394=) rs2151157434
NM_000057.4(BLM):c.1185T>C (p.Asp395=) rs2151157439
NM_000057.4(BLM):c.1188T>C (p.Cys396=) rs756454608
NM_000057.4(BLM):c.1209G>A (p.Gln403=) rs1555419741
NM_000057.4(BLM):c.1212G>A (p.Arg404=)
NM_000057.4(BLM):c.1212G>C (p.Arg404=)
NM_000057.4(BLM):c.1212G>T (p.Arg404=) rs759308711
NM_000057.4(BLM):c.1218A>C (p.Ile406=)
NM_000057.4(BLM):c.1220+11T>A
NM_000057.4(BLM):c.1220+11T>G
NM_000057.4(BLM):c.1220+14C>A
NM_000057.4(BLM):c.1220+14C>G
NM_000057.4(BLM):c.1220+17C>G
NM_000057.4(BLM):c.1220+18C>T
NM_000057.4(BLM):c.1221-11T>C
NM_000057.4(BLM):c.1221-12_1221-11del rs1895945037
NM_000057.4(BLM):c.1221-15C>G rs1038629873
NM_000057.4(BLM):c.1221-16T>C rs2151157723
NM_000057.4(BLM):c.1221-20G>A rs2151157720
NM_000057.4(BLM):c.1221-6C>A
NM_000057.4(BLM):c.1221-6C>G rs1555419778
NM_000057.4(BLM):c.1221-6C>T rs1555419778
NM_000057.4(BLM):c.1221-8C>G
NM_000057.4(BLM):c.1236G>T (p.Thr412=) rs762617509
NM_000057.4(BLM):c.1251T>C (p.Asn417=) rs1555419791
NM_000057.4(BLM):c.1269T>C (p.Leu423=)
NM_000057.4(BLM):c.1278A>C (p.Ser426=) rs1596229500
NM_000057.4(BLM):c.1278A>G (p.Ser426=) rs1596229500
NM_000057.4(BLM):c.1279T>C (p.Leu427=) rs2151157855
NM_000057.4(BLM):c.1281G>A (p.Leu427=) rs2151157860
NM_000057.4(BLM):c.1290C>T (p.Tyr430=) rs766861351
NM_000057.4(BLM):c.1296T>C (p.Pro432=) rs1555419811
NM_000057.4(BLM):c.1296T>G (p.Pro432=)
NM_000057.4(BLM):c.1299T>C (p.Asp433=)
NM_000057.4(BLM):c.1305T>G (p.Leu435=) rs778967807
NM_000057.4(BLM):c.1314T>C (p.Pro438=) rs1225205444
NM_000057.4(BLM):c.1326T>C (p.Asp442=) rs2151158008
NM_000057.4(BLM):c.1329C>A (p.Ser443=)
NM_000057.4(BLM):c.1329C>T (p.Ser443=)
NM_000057.4(BLM):c.1332C>T (p.Cys444=) rs1895952071
NM_000057.4(BLM):c.1338A>G (p.Thr446=) rs2151158038
NM_000057.4(BLM):c.1347T>C (p.Ser449=) rs1481709366
NM_000057.4(BLM):c.1356G>A (p.Glu452=)
NM_000057.4(BLM):c.135C>T (p.Asn45=) rs2151146713
NM_000057.4(BLM):c.1362T>C (p.Asn454=) rs1156488243
NM_000057.4(BLM):c.1365T>C (p.Phe455=)
NM_000057.4(BLM):c.1368A>T (p.Ser456=)
NM_000057.4(BLM):c.1371C>T (p.His457=)
NM_000057.4(BLM):c.1374T>G (p.Leu458=) rs753456624
NM_000057.4(BLM):c.1383T>C (p.Asn461=) rs2151158124
NM_000057.4(BLM):c.138T>C (p.Asn46=) rs1895600929
NM_000057.4(BLM):c.1392T>C (p.Ser464=) rs2151158131
NM_000057.4(BLM):c.1395T>C (p.Pro465=)
NM_000057.4(BLM):c.1398G>A (p.Gly466=) rs1596229756
NM_000057.4(BLM):c.1404T>C (p.Cys468=) rs1236929438
NM_000057.4(BLM):c.1416C>A (p.Thr472=)
NM_000057.4(BLM):c.1419C>G (p.Thr473=) rs200051680
NM_000057.4(BLM):c.141A>C (p.Val47=)
NM_000057.4(BLM):c.1425A>G (p.Gly475=)
NM_000057.4(BLM):c.1437C>T (p.Phe479=)
NM_000057.4(BLM):c.1446C>T (p.Thr482=) rs2151158251
NM_000057.4(BLM):c.1449G>A (p.Arg483=) rs1596229906
NM_000057.4(BLM):c.1461T>C (p.Phe487=)
NM_000057.4(BLM):c.1470T>C (p.Pro490=)
NM_000057.4(BLM):c.1473A>G (p.Leu491=)
NM_000057.4(BLM):c.1479T>C (p.Asn493=)
NM_000057.4(BLM):c.147A>C (p.Val49=)
NM_000057.4(BLM):c.1482C>T (p.Thr494=) rs1596229985
NM_000057.4(BLM):c.1485T>C (p.His495=) rs2151158313
NM_000057.4(BLM):c.1488A>G (p.Leu496=)
NM_000057.4(BLM):c.1494G>A (p.Lys498=)
NM_000057.4(BLM):c.1497C>A (p.Ser499=) rs540772424
NM_000057.4(BLM):c.1500T>C (p.Phe500=)
NM_000057.4(BLM):c.1533A>C (p.Leu511=)
NM_000057.4(BLM):c.153T>C (p.Asn51=)
NM_000057.4(BLM):c.1554T>A (p.Ser518=) rs2151158475
NM_000057.4(BLM):c.1557T>C (p.Tyr519=)
NM_000057.4(BLM):c.1560C>T (p.Phe520=) rs2151158484
NM_000057.4(BLM):c.1563A>C (p.Pro521=)
NM_000057.4(BLM):c.156G>A (p.Val52=)
NM_000057.4(BLM):c.156G>T (p.Val52=) rs2151146748
NM_000057.4(BLM):c.1584T>G (p.Thr528=) rs766369993
NM_000057.4(BLM):c.1590G>A (p.Val530=)
NM_000057.4(BLM):c.1599G>A (p.Gln533=) rs2151158575
NM_000057.4(BLM):c.1611T>C (p.Thr537=) rs1895967311
NM_000057.4(BLM):c.1626C>T (p.Asp542=) rs1895968518
NM_000057.4(BLM):c.1641C>G (p.Thr547=)
NM_000057.4(BLM):c.1641C>T (p.Thr547=) rs2151158651
NM_000057.4(BLM):c.1644A>G (p.Gln548=)
NM_000057.4(BLM):c.1647T>C (p.Pro549=)
NM_000057.4(BLM):c.1653T>C (p.Tyr551=)
NM_000057.4(BLM):c.1674A>C (p.Ile558=)
NM_000057.4(BLM):c.1683T>C (p.Phe561=)
NM_000057.4(BLM):c.1686T>C (p.Asp562=)
NM_000057.4(BLM):c.1689T>C (p.Asp563=)
NM_000057.4(BLM):c.1707C>T (p.Asp569=) rs1596230402
NM_000057.4(BLM):c.171A>T (p.Thr57=)
NM_000057.4(BLM):c.1725A>G (p.Ala575=) rs2151158860
NM_000057.4(BLM):c.1734A>G (p.Lys578=)
NM_000057.4(BLM):c.1737T>G (p.Ser579=) rs2151158878
NM_000057.4(BLM):c.1749C>G (p.Ala583=) rs369660800
NM_000057.4(BLM):c.1749C>T (p.Ala583=) rs369660800
NM_000057.4(BLM):c.1764G>A (p.Lys588=) rs1596230518
NM_000057.4(BLM):c.1767A>G (p.Glu589=) rs2151158940
NM_000057.4(BLM):c.1770T>C (p.Gly590=)
NM_000057.4(BLM):c.1773G>A (p.Arg591=) rs1161912678
NM_000057.4(BLM):c.1788A>G (p.Val596=) rs1555419972
NM_000057.4(BLM):c.1803C>T (p.Ser601=)
NM_000057.4(BLM):c.1806A>G (p.Ser602=)
NM_000057.4(BLM):c.1809C>G (p.Ala603=) rs1596230587
NM_000057.4(BLM):c.1812G>A (p.Lys604=)
NM_000057.4(BLM):c.1818C>T (p.Asp606=) rs1343649830
NM_000057.4(BLM):c.1827A>G (p.Pro609=) rs1035455107
NM_000057.4(BLM):c.1827A>T (p.Pro609=)
NM_000057.4(BLM):c.1836T>C (p.Ser612=)
NM_000057.4(BLM):c.1839T>C (p.Thr613=) rs2151159114
NM_000057.4(BLM):c.1845A>G (p.Gln615=)
NM_000057.4(BLM):c.1857C>T (p.Phe619=) rs1218260888
NM_000057.4(BLM):c.1860A>C (p.Ser620=) rs1286518338
NM_000057.4(BLM):c.1866A>G (p.Ser622=) rs2151159183
NM_000057.4(BLM):c.1875T>C (p.Asn625=) rs2151159204
NM_000057.4(BLM):c.1882+15A>C
NM_000057.4(BLM):c.1882+15A>G
NM_000057.4(BLM):c.1882+17T>A rs2151159231
NM_000057.4(BLM):c.1882+18T>C
NM_000057.4(BLM):c.1882+19G>A
NM_000057.4(BLM):c.1883-10A>G
NM_000057.4(BLM):c.1883-11T>A rs2151160467
NM_000057.4(BLM):c.1883-14G>A rs1459105649
NM_000057.4(BLM):c.1883-14G>T
NM_000057.4(BLM):c.1883-14_1883-11del
NM_000057.4(BLM):c.1883-18C>T rs755428003
NM_000057.4(BLM):c.1883-6T>C rs1596232042
NM_000057.4(BLM):c.1883-7T>C rs1384842732
NM_000057.4(BLM):c.1883-8T>G
NM_000057.4(BLM):c.18A>G (p.Gln6=) rs372771577
NM_000057.4(BLM):c.1908C>A (p.Ser636=)
NM_000057.4(BLM):c.1908C>T (p.Ser636=) rs1409930066
NM_000057.4(BLM):c.1917G>A (p.Leu639=) rs771059822
NM_000057.4(BLM):c.1929T>C (p.Arg643=)
NM_000057.4(BLM):c.192T>C (p.Asp64=) rs2151146805
NM_000057.4(BLM):c.1953T>C (p.His651=) rs755517718
NM_000057.4(BLM):c.1956A>C (p.Thr652=) rs1567042229
NM_000057.4(BLM):c.1956A>G (p.Thr652=) rs1567042229
NM_000057.4(BLM):c.1959G>A (p.Lys653=)
NM_000057.4(BLM):c.1977T>C (p.Phe659=) rs1596232235
NM_000057.4(BLM):c.1986A>G (p.Lys662=)
NM_000057.4(BLM):c.198T>C (p.Asn66=) rs1410899563
NM_000057.4(BLM):c.1992C>G (p.Gly664=) rs886043359
NM_000057.4(BLM):c.1993C>T (p.Leu665=) rs2151160690
NM_000057.4(BLM):c.1995G>A (p.Leu665=)
NM_000057.4(BLM):c.1995G>C (p.Leu665=) rs2151160697
NM_000057.4(BLM):c.2004T>C (p.Phe668=)
NM_000057.4(BLM):c.2016G>A (p.Gln672=) rs986590937
NM_000057.4(BLM):c.2019A>G (p.Leu673=) rs2151160712
NM_000057.4(BLM):c.2022G>A (p.Glu674=) rs1596232275
NM_000057.4(BLM):c.2028C>T (p.Ile676=) rs2151160730
NM_000057.4(BLM):c.2031T>C (p.Asn677=)
NM_000057.4(BLM):c.2034T>C (p.Ala678=) rs2151160740
NM_000057.4(BLM):c.2037A>C (p.Ala679=)
NM_000057.4(BLM):c.2043T>C (p.Leu681=) rs2151160770
NM_000057.4(BLM):c.2046T>C (p.Gly682=)
NM_000057.4(BLM):c.2046T>G (p.Gly682=) rs2151160778
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.204C>G (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2070G>T (p.Pro690=) rs148078150
NM_000057.4(BLM):c.2074+10T>C
NM_000057.4(BLM):c.2074+13A>G
NM_000057.4(BLM):c.2074+14G>C
NM_000057.4(BLM):c.2074+17G>C rs902634692
NM_000057.4(BLM):c.2074+18T>C rs2151160869
NM_000057.4(BLM):c.2074+31_2074+32insATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAGAAAGAAAATAACATTCGTAACTTTGAGGAAACAGAATAAATAGGAGATTTATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGAATTGGCAGGAA rs1567042315
NM_000057.4(BLM):c.2074+7A>G rs1279559326
NM_000057.4(BLM):c.2074+9T>A rs2151160844
NM_000057.4(BLM):c.2075-15A>C
NM_000057.4(BLM):c.2075-16del
NM_000057.4(BLM):c.2075-18T>G rs2151162302
NM_000057.4(BLM):c.2075-6T>G
NM_000057.4(BLM):c.2075-7C>T
NM_000057.4(BLM):c.2075-8T>C
NM_000057.4(BLM):c.2075-9C>G rs1449433488
NM_000057.4(BLM):c.2076A>G (p.Gly692=)
NM_000057.4(BLM):c.2088T>C (p.Ser696=) rs2151162337
NM_000057.4(BLM):c.2091G>A (p.Leu697=) rs2151162344
NM_000057.4(BLM):c.2103C>A (p.Leu701=) rs1596234139
NM_000057.4(BLM):c.2103C>T (p.Leu701=) rs1596234139
NM_000057.4(BLM):c.2109C>A (p.Ala703=)
NM_000057.4(BLM):c.210C>T (p.Asp70=)
NM_000057.4(BLM):c.2115T>A (p.Val705=) rs142787700
NM_000057.4(BLM):c.2121T>C (p.Pro707=)
NM_000057.4(BLM):c.2127C>T (p.Val709=) rs2151162440
NM_000057.4(BLM):c.2148G>A (p.Leu716=) rs2151162471
NM_000057.4(BLM):c.2163A>G (p.Val721=)
NM_000057.4(BLM):c.2172C>T (p.Val724=) rs2151162509
NM_000057.4(BLM):c.2181G>T (p.Leu727=) rs2151162511
NM_000057.4(BLM):c.2188T>C (p.Leu730=) rs2151162528
NM_000057.4(BLM):c.2193+15T>C
NM_000057.4(BLM):c.2193+16A>C rs1567043236
NM_000057.4(BLM):c.2193+16A>G
NM_000057.4(BLM):c.2193+17C>A
NM_000057.4(BLM):c.2193+8A>G rs2151162549
NM_000057.4(BLM):c.2194-12T>A
NM_000057.4(BLM):c.2194-13C>A
NM_000057.4(BLM):c.2194-16C>A
NM_000057.4(BLM):c.2194-16C>T
NM_000057.4(BLM):c.2194-17A>G rs755003821
NM_000057.4(BLM):c.2194-7T>C
NM_000057.4(BLM):c.2194-8A>C
NM_000057.4(BLM):c.2194-8A>G rs1896143206
NM_000057.4(BLM):c.2199A>G (p.Pro733=)
NM_000057.4(BLM):c.2205A>G (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2205A>T (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2209C>T (p.Leu737=) rs901867383
NM_000057.4(BLM):c.2211G>T (p.Leu737=) rs933356579
NM_000057.4(BLM):c.2214A>G (p.Thr738=)
NM_000057.4(BLM):c.2217T>C (p.Gly739=)
NM_000057.4(BLM):c.2217T>G (p.Gly739=) rs1217701232
NM_000057.4(BLM):c.2220T>C (p.Asp740=) rs2151163848
NM_000057.4(BLM):c.2226T>C (p.Thr742=) rs2151163862
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.222T>C (p.Ser74=) rs2151146878
NM_000057.4(BLM):c.2232A>G (p.Ser744=)
NM_000057.4(BLM):c.2235A>G (p.Glu745=) rs1596235875
NM_000057.4(BLM):c.2253C>A (p.Leu751=) rs2151163921
NM_000057.4(BLM):c.2253C>G (p.Leu751=) rs2151163921
NM_000057.4(BLM):c.2259A>G (p.Leu753=)
NM_000057.4(BLM):c.225A>G (p.Glu75=) rs2151146880
NM_000057.4(BLM):c.2265A>G (p.Lys755=) rs773864863
NM_000057.4(BLM):c.2277C>A (p.Ile759=)
NM_000057.4(BLM):c.2280A>C (p.Ile760=) rs1596236007
NM_000057.4(BLM):c.2287C>T (p.Leu763=) rs896043726
NM_000057.4(BLM):c.2289A>C (p.Leu763=) rs1567044034
NM_000057.4(BLM):c.2289A>T (p.Leu763=)
NM_000057.4(BLM):c.2298T>A (p.Thr766=) rs2151164033
NM_000057.4(BLM):c.2298T>C (p.Thr766=)
NM_000057.4(BLM):c.2301A>C (p.Pro767=)
NM_000057.4(BLM):c.2307+15C>A
NM_000057.4(BLM):c.2307+16A>G
NM_000057.4(BLM):c.2307+7A>G
NM_000057.4(BLM):c.2308-12T>C
NM_000057.4(BLM):c.2308-15G>A rs761194653
NM_000057.4(BLM):c.2308-20C>G
NM_000057.4(BLM):c.2308-9C>T rs771208627
NM_000057.4(BLM):c.2316A>G (p.Ala772=) rs752835659
NM_000057.4(BLM):c.231A>C (p.Leu77=)
NM_000057.4(BLM):c.231A>G (p.Leu77=) rs760696149
NM_000057.4(BLM):c.2337T>C (p.Thr779=) rs1896223602
NM_000057.4(BLM):c.2346T>C (p.Asn782=) rs2151165716
NM_000057.4(BLM):c.234C>G (p.Pro78=) rs970793829
NM_000057.4(BLM):c.234C>T (p.Pro78=) rs970793829
NM_000057.4(BLM):c.2352T>C (p.Tyr784=)
NM_000057.4(BLM):c.2358G>A (p.Arg786=)
NM_000057.4(BLM):c.2367G>A (p.Leu789=) rs1060500651
NM_000057.4(BLM):c.237C>T (p.Asn79=)
NM_000057.4(BLM):c.2385T>C (p.Asp795=)
NM_000057.4(BLM):c.2391A>C (p.Ala797=)
NM_000057.4(BLM):c.2391A>G (p.Ala797=)
NM_000057.4(BLM):c.2394T>C (p.His798=)
NM_000057.4(BLM):c.2400C>T (p.Val800=)
NM_000057.4(BLM):c.2406+10G>C
NM_000057.4(BLM):c.2406+11T>A
NM_000057.4(BLM):c.2406+11T>G rs1896228357
NM_000057.4(BLM):c.2406+14T>A
NM_000057.4(BLM):c.2406+19A>G rs2151165875
NM_000057.4(BLM):c.2406+5A>G rs763104913
NM_000057.4(BLM):c.2406+8C>G rs764181989
NM_000057.4(BLM):c.2406+8C>T rs764181989
NM_000057.4(BLM):c.2406+9T>A rs2151165855
NM_000057.4(BLM):c.2407-14T>A
NM_000057.4(BLM):c.2407-16T>G rs2151166035
NM_000057.4(BLM):c.2407-17T>C
NM_000057.4(BLM):c.2407-17_2407-16insG
NM_000057.4(BLM):c.2407-18A>T
NM_000057.4(BLM):c.2407-6A>T rs1478497820
NM_000057.4(BLM):c.2407-7C>G
NM_000057.4(BLM):c.2407-7C>T rs768836369
NM_000057.4(BLM):c.2407-8C>T
NM_000057.4(BLM):c.240C>T (p.Thr80=) rs1895606265
NM_000057.4(BLM):c.2415T>C (p.His805=) rs1896235784
NM_000057.4(BLM):c.2421T>C (p.Phe807=) rs2151166092
NM_000057.4(BLM):c.2433C>T (p.Tyr811=) rs377542595
NM_000057.4(BLM):c.2439A>G (p.Arg813=)
NM_000057.4(BLM):c.2454C>A (p.Arg818=) rs746409922
NM_000057.4(BLM):c.2469T>C (p.Ser823=) rs780438135
NM_000057.4(BLM):c.2472T>A (p.Val824=)
NM_000057.4(BLM):c.2475G>C (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2478G>A (p.Val826=)
NM_000057.4(BLM):c.2490G>T (p.Thr830=)
NM_000057.4(BLM):c.2493C>T (p.Ala831=) rs2151166253
NM_000057.4(BLM):c.2496A>C (p.Thr832=) rs762840557
NM_000057.4(BLM):c.2499T>C (p.Ala833=)
NM_000057.4(BLM):c.249G>A (p.Gln83=) rs1430623511
NM_000057.4(BLM):c.2502T>C (p.Asn834=) rs2151166275
NM_000057.4(BLM):c.2508G>A (p.Arg836=) rs2151166304
NM_000057.4(BLM):c.2514G>A (p.Gln838=) rs2151166322
NM_000057.4(BLM):c.2520C>T (p.Asp840=)
NM_000057.4(BLM):c.2523C>T (p.Ile841=)
NM_000057.4(BLM):c.2529T>C (p.Thr843=) rs2151166372
NM_000057.4(BLM):c.2544C>G (p.Leu848=)
NM_000057.4(BLM):c.2555+10T>C rs2151166449
NM_000057.4(BLM):c.2555+13A>C
NM_000057.4(BLM):c.2555+13A>G
NM_000057.4(BLM):c.2555+13A>T
NM_000057.4(BLM):c.2555+15G>C rs376896850
NM_000057.4(BLM):c.2555+16_2555+17delinsAT rs2151166465
NM_000057.4(BLM):c.2555+17C>G rs747061490
NM_000057.4(BLM):c.2555+17C>T
NM_000057.4(BLM):c.2555+17del
NM_000057.4(BLM):c.2555+19C>A
NM_000057.4(BLM):c.2555+19C>T
NM_000057.4(BLM):c.2555+20G>C
NM_000057.4(BLM):c.2555+20G>T rs762930185
NM_000057.4(BLM):c.2555+7_2555+8inv
NM_000057.4(BLM):c.2556-10A>G
NM_000057.4(BLM):c.2556-11G>A
NM_000057.4(BLM):c.2556-11G>C
NM_000057.4(BLM):c.2556-12G>C rs2151177995
NM_000057.4(BLM):c.2556-18T>C
NM_000057.4(BLM):c.2556-19A>G
NM_000057.4(BLM):c.2556-19A>T
NM_000057.4(BLM):c.2556-7T>C
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.2556-8T>G rs1567052156
NM_000057.4(BLM):c.255G>A (p.Arg85=)
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000057.4(BLM):c.2595T>C (p.Tyr865=) rs1060503989
NM_000057.4(BLM):c.2598A>G (p.Val866=) rs574053990
NM_000057.4(BLM):c.25C>T (p.Leu9=) rs1596215640
NM_000057.4(BLM):c.2622G>A (p.Val874=) rs760261440
NM_000057.4(BLM):c.2637A>G (p.Leu879=) rs1896653550
NM_000057.4(BLM):c.2640A>G (p.Glu880=) rs1301492880
NM_000057.4(BLM):c.2646C>T (p.Ile882=) rs760072975
NM_000057.4(BLM):c.2649A>G (p.Arg883=)
NM_000057.4(BLM):c.264C>T (p.Asp88=) rs757984551
NM_000057.4(BLM):c.2652G>A (p.Lys884=) rs1596250475
NM_000057.4(BLM):c.2662+11C>G
NM_000057.4(BLM):c.2662+11C>T
NM_000057.4(BLM):c.2662+14T>C
NM_000057.4(BLM):c.2662+15G>A rs1335538618
NM_000057.4(BLM):c.2662+18A>G rs2151178213
NM_000057.4(BLM):c.2662+19T>C
NM_000057.4(BLM):c.2662+20T>A rs2151178215
NM_000057.4(BLM):c.2663-12G>A rs2151179669
NM_000057.4(BLM):c.2663-15T>C rs1896705664
NM_000057.4(BLM):c.2663-4G>A rs2151179676
NM_000057.4(BLM):c.2663-6T>C rs2151179672
NM_000057.4(BLM):c.2688C>T (p.Leu896=) rs1488182321
NM_000057.4(BLM):c.2694G>A (p.Arg898=) rs2151179730
NM_000057.4(BLM):c.2695C>A (p.Arg899=)
NM_000057.4(BLM):c.2706C>T (p.Asp902=) rs1219646041
NM_000057.4(BLM):c.2709C>G (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2715T>C (p.Ala905=)
NM_000057.4(BLM):c.2722T>C (p.Leu908=)
NM_000057.4(BLM):c.2724A>G (p.Leu908=) rs1052357089
NM_000057.4(BLM):c.2727G>A (p.Gln909=) rs2151179788
NM_000057.4(BLM):c.2730A>G (p.Arg910=)
NM_000057.4(BLM):c.2733T>C (p.Asp911=)
NM_000057.4(BLM):c.2739C>A (p.Leu913=) rs759223856
NM_000057.4(BLM):c.2742T>C (p.Ala914=)
NM_000057.4(BLM):c.2748T>G (p.Leu916=) rs2151179825
NM_000057.4(BLM):c.2757T>C (p.His919=) rs2151179837
NM_000057.4(BLM):c.2760T>C (p.Ala920=) rs1321253830
NM_000057.4(BLM):c.2760T>G (p.Ala920=) rs1321253830
NM_000057.4(BLM):c.2769T>C (p.Ser923=) rs1596252204
NM_000057.4(BLM):c.2775T>C (p.Ser925=) rs1596252208
NM_000057.4(BLM):c.2778C>G (p.Ala926=)
NM_000057.4(BLM):c.2790G>A (p.Val930=)
NM_000057.4(BLM):c.2793G>A (p.Gln931=) rs1192168118
NM_000057.4(BLM):c.27A>G (p.Leu9=) rs2151145006
NM_000057.4(BLM):c.2823+11T>A
NM_000057.4(BLM):c.2823+12A>G
NM_000057.4(BLM):c.2823+15G>C rs750620938
NM_000057.4(BLM):c.2823+19A>T
NM_000057.4(BLM):c.2823+20A>C
NM_000057.4(BLM):c.2823+21_2823+24del rs2151179993
NM_000057.4(BLM):c.2823+9T>C
NM_000057.4(BLM):c.2824-10T>C
NM_000057.4(BLM):c.2824-12C>T rs1314614444
NM_000057.4(BLM):c.2824-14T>C
NM_000057.4(BLM):c.2824-17T>G
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.2824-7A>T rs374616797
NM_000057.4(BLM):c.2832T>C (p.Cys944=)
NM_000057.4(BLM):c.2835T>C (p.Ala945=)
NM_000057.4(BLM):c.2838A>T (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2844A>G (p.Ala948=)
NM_000057.4(BLM):c.2859T>C (p.Ile953=)
NM_000057.4(BLM):c.2862C>T (p.Asp954=) rs907953613
NM_000057.4(BLM):c.2865A>G (p.Lys955=) rs1896882039
NM_000057.4(BLM):c.2874G>A (p.Val958=) rs2151184510
NM_000057.4(BLM):c.2877A>T (p.Arg959=)
NM_000057.4(BLM):c.2889T>C (p.His963=)
NM_000057.4(BLM):c.288A>G (p.Gly96=) rs2151147023
NM_000057.4(BLM):c.2892A>C (p.Ala964=) rs973389134
NM_000057.4(BLM):c.2892A>G (p.Ala964=) rs973389134
NM_000057.4(BLM):c.2895T>A (p.Ser965=) rs2151184545
NM_000057.4(BLM):c.2898C>T (p.Leu966=) rs201220226
NM_000057.4(BLM):c.2901T>A (p.Pro967=)
NM_000057.4(BLM):c.2934C>A (p.Gly978=) rs2151184603
NM_000057.4(BLM):c.2940T>C (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.2940T>G (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.2949T>C (p.Asp983=) rs2151184627
NM_000057.4(BLM):c.294A>G (p.Glu98=) rs2151147036
NM_000057.4(BLM):c.2952G>A (p.Gly984=)
NM_000057.4(BLM):c.2968C>T (p.Leu990=)
NM_000057.4(BLM):c.2970G>A (p.Leu990=)
NM_000057.4(BLM):c.2973T>C (p.Leu991=) rs2151184673
NM_000057.4(BLM):c.2982C>G (p.Thr994=) rs2151184697
NM_000057.4(BLM):c.2994G>A (p.Val998=) rs1596257300
NM_000057.4(BLM):c.300G>A (p.Gln100=) rs2151147068
NM_000057.4(BLM):c.3012T>C (p.Leu1004=) rs2151184763
NM_000057.4(BLM):c.3019+10G>T
NM_000057.4(BLM):c.3019+12T>G
NM_000057.4(BLM):c.3019+13C>T rs942808732
NM_000057.4(BLM):c.3019+14C>T
NM_000057.4(BLM):c.3019+15A>G
NM_000057.4(BLM):c.3019+19T>C rs1896890749
NM_000057.4(BLM):c.3019+20A>G
NM_000057.4(BLM):c.3019+23_3019+24del
NM_000057.4(BLM):c.3019+7T>A rs761087545
NM_000057.4(BLM):c.3019+9G>A rs771124658
NM_000057.4(BLM):c.3019+9G>C rs771124658
NM_000057.4(BLM):c.3020-11A>C rs1331229405
NM_000057.4(BLM):c.3020-16T>G
NM_000057.4(BLM):c.3020-19T>A rs1896970434
NM_000057.4(BLM):c.3020-19T>C
NM_000057.4(BLM):c.3020-20A>G rs2151187095
NM_000057.4(BLM):c.3020-4T>A
NM_000057.4(BLM):c.3020-4T>C
NM_000057.4(BLM):c.3020-4T>G
NM_000057.4(BLM):c.3020-7C>G rs1596259789
NM_000057.4(BLM):c.3020-7C>T rs1596259789
NM_000057.4(BLM):c.3036C>T (p.Asn1012=)
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3045A>G (p.Thr1015=) rs966206627
NM_000057.4(BLM):c.3048A>G (p.Arg1016=)
NM_000057.4(BLM):c.3057C>T (p.His1019=) rs539573731
NM_000057.4(BLM):c.3081A>G (p.Val1027=)
NM_000057.4(BLM):c.3087C>T (p.Tyr1029=)
NM_000057.4(BLM):c.3093A>G (p.Glu1031=) rs2151187267
NM_000057.4(BLM):c.30G>A (p.Gln10=) rs2151145010
NM_000057.4(BLM):c.3120G>A (p.Gln1040=) rs1567058364
NM_000057.4(BLM):c.3129C>T (p.Ala1043=) rs1896977206
NM_000057.4(BLM):c.312A>G (p.Ser104=) rs2151147095
NM_000057.4(BLM):c.3132C>T (p.Tyr1044=) rs2151187348
NM_000057.4(BLM):c.3135T>C (p.Phe1045=) rs1596260013
NM_000057.4(BLM):c.3141A>G (p.Glu1047=) rs1596260028
NM_000057.4(BLM):c.3147A>G (p.Gly1049=)
NM_000057.4(BLM):c.3153T>C (p.Asn1051=) rs1262516507
NM_000057.4(BLM):c.315A>G (p.Lys105=) rs2151147097
NM_000057.4(BLM):c.3171A>G (p.Lys1057=) rs2151187399
NM_000057.4(BLM):c.3174C>T (p.His1058=)
NM_000057.4(BLM):c.3180T>C (p.Asp1060=) rs749458622
NM_000057.4(BLM):c.3186T>A (p.Ser1062=) rs774258877
NM_000057.4(BLM):c.3189T>C (p.Cys1063=)
NM_000057.4(BLM):c.318A>C (p.Ser106=) rs2151147103
NM_000057.4(BLM):c.3201T>C (p.Cys1067=)
NM_000057.4(BLM):c.3207A>G (p.Thr1069=)
NM_000057.4(BLM):c.3210+10_3210+11del
NM_000057.4(BLM):c.3210+11_3210+13del rs1896980675
NM_000057.4(BLM):c.3210+14T>G rs2151187475
NM_000057.4(BLM):c.3210+15T>G
NM_000057.4(BLM):c.3210+16T>G
NM_000057.4(BLM):c.3210+17T>C
NM_000057.4(BLM):c.3210+20A>C rs2151187481
NM_000057.4(BLM):c.3210+8A>G
NM_000057.4(BLM):c.3211-14_3211-13del
NM_000057.4(BLM):c.3211-4A>G rs2151190224
NM_000057.4(BLM):c.3211-5C>G
NM_000057.4(BLM):c.3211-7T>A
NM_000057.4(BLM):c.3211-8A>C rs2151190221
NM_000057.4(BLM):c.3211-8A>G
NM_000057.4(BLM):c.3213T>C (p.Asp1071=) rs2151190236
NM_000057.4(BLM):c.322T>C (p.Leu108=) rs1596218180
NM_000057.4(BLM):c.3231G>C (p.Val1077=)
NM_000057.4(BLM):c.3234T>C (p.Thr1078=) rs2151190271
NM_000057.4(BLM):c.3249T>C (p.Ser1083=) rs763642876
NM_000057.4(BLM):c.3261T>C (p.Phe1087=)
NM_000057.4(BLM):c.3279A>G (p.Ser1093=)
NM_000057.4(BLM):c.327A>G (p.Pro109=) rs2151147129
NM_000057.4(BLM):c.3288A>G (p.Gly1096=) rs1897079440
NM_000057.4(BLM):c.3306T>C (p.His1102=)
NM_000057.4(BLM):c.3309A>C (p.Val1103=) rs772290769
NM_000057.4(BLM):c.3315T>C (p.Pro1105=) rs2151190437
NM_000057.4(BLM):c.3330T>A (p.Thr1110=)
NM_000057.4(BLM):c.333C>T (p.Phe111=) rs1895610686
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3345C>G (p.Val1115=) rs773893026
NM_000057.4(BLM):c.3355T>C (p.Leu1119=) rs201847046
NM_000057.4(BLM):c.3358+10C>G rs2151190528
NM_000057.4(BLM):c.3358+13T>C
NM_000057.4(BLM):c.3358+16T>G rs766854886
NM_000057.4(BLM):c.3358+18A>C
NM_000057.4(BLM):c.3358+7C>T rs2151190522
NM_000057.4(BLM):c.3358+7_3358+13del rs1555423799
NM_000057.4(BLM):c.3358+9T>C rs1555423800
NM_000057.4(BLM):c.3359-10T>G rs2151194125
NM_000057.4(BLM):c.3359-15G>A rs2151194113
NM_000057.4(BLM):c.3359-16T>G
NM_000057.4(BLM):c.3359-18C>T rs2151194105
NM_000057.4(BLM):c.3359-19T>C rs2151194101
NM_000057.4(BLM):c.3359-4T>A rs2151194132
NM_000057.4(BLM):c.3359-5A>G rs1278436608
NM_000057.4(BLM):c.3359-6T>C
NM_000057.4(BLM):c.3359-7T>A
NM_000057.4(BLM):c.3359-7T>C
NM_000057.4(BLM):c.3359-8C>G rs2151194128
NM_000057.4(BLM):c.3360G>A (p.Gly1120=) rs1567062602
NM_000057.4(BLM):c.3360G>T (p.Gly1120=) rs1567062602
NM_000057.4(BLM):c.3372A>G (p.Ala1124=) rs1897212519
NM_000057.4(BLM):c.3384A>G (p.Ser1128=) rs2151194181
NM_000057.4(BLM):c.3399A>G (p.Lys1133=) rs2151194213
NM_000057.4(BLM):c.339G>A (p.Gln113=)
NM_000057.4(BLM):c.33G>A (p.Glu11=) rs1895533244
NM_000057.4(BLM):c.3411T>C (p.Tyr1137=)
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro) rs771776126
NM_000057.4(BLM):c.3426C>G (p.Ala1142=) rs147148171
NM_000057.4(BLM):c.342T>C (p.Thr114=) rs746257638
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.3450A>T (p.Ile1150=)
NM_000057.4(BLM):c.345G>C (p.Pro115=) rs374578971
NM_000057.4(BLM):c.3477A>G (p.Leu1159=) rs2151194319
NM_000057.4(BLM):c.3486T>C (p.Asn1162=)
NM_000057.4(BLM):c.348G>A (p.Lys116=) rs749535664
NM_000057.4(BLM):c.3495C>G (p.Asp1165Glu) rs767536788
NM_000057.4(BLM):c.3495C>T (p.Asp1165=)
NM_000057.4(BLM):c.3498G>A (p.Gln1166=)
NM_000057.4(BLM):c.3501G>T (p.Ala1167=) rs752559933
NM_000057.4(BLM):c.3504C>A (p.Ile1168=) rs758199564
NM_000057.4(BLM):c.3519C>A (p.Leu1173=)
NM_000057.4(BLM):c.3525T>C (p.Asn1175=)
NM_000057.4(BLM):c.3531C>T (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3541C>T (p.Leu1181=)
NM_000057.4(BLM):c.3546T>C (p.Asn1182=) rs1596267753
NM_000057.4(BLM):c.3549C>A (p.Gly1183=)
NM_000057.4(BLM):c.3552T>C (p.Asn1184=)
NM_000057.4(BLM):c.3555A>G (p.Leu1185=)
NM_000057.4(BLM):c.3558+10T>C
NM_000057.4(BLM):c.3558+12_3558+13del rs773935119
NM_000057.4(BLM):c.3558+18T>A rs2151194478
NM_000057.4(BLM):c.3558+24_3558+28del rs745676299
NM_000057.4(BLM):c.3558+8A>G rs1567062884
NM_000057.4(BLM):c.3558+9T>C
NM_000057.4(BLM):c.3559-11C>G
NM_000057.4(BLM):c.3559-13C>A rs368473682
NM_000057.4(BLM):c.3559-13C>T
NM_000057.4(BLM):c.3559-14TC[3]
NM_000057.4(BLM):c.3559-15T>C
NM_000057.4(BLM):c.3559-16T>C
NM_000057.4(BLM):c.3559-17G>A
NM_000057.4(BLM):c.3559-18T>C
NM_000057.4(BLM):c.3559-4A>G rs760756587
NM_000057.4(BLM):c.3559-6A>C rs773492985
NM_000057.4(BLM):c.3559-6A>G rs773492985
NM_000057.4(BLM):c.3559-7C>A rs772254909
NM_000057.4(BLM):c.3559-7C>T rs772254909
NM_000057.4(BLM):c.3559-9C>T
NM_000057.4(BLM):c.3561A>T (p.Val1187=) rs762924653
NM_000057.4(BLM):c.3564C>T (p.Asp1188=)
NM_000057.4(BLM):c.357A>G (p.Val119=)
NM_000057.4(BLM):c.357A>T (p.Val119=) rs1279217509
NM_000057.4(BLM):c.3591T>C (p.Ser1197=) rs1596268143
NM_000057.4(BLM):c.3603A>G (p.Gln1201=) rs2151194830
NM_000057.4(BLM):c.3606A>G (p.Lys1202=)
NM_000057.4(BLM):c.3609G>C (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3618A>C (p.Ala1206=) rs1384318181
NM_000057.4(BLM):c.3618A>G (p.Ala1206=)
NM_000057.4(BLM):c.3636A>G (p.Glu1212=) rs1897234564
NM_000057.4(BLM):c.3639G>A (p.Glu1213=)
NM_000057.4(BLM):c.3651A>G (p.Lys1217=) rs587779887
NM_000057.4(BLM):c.3654T>C (p.Cys1218=) rs2151194910
NM_000057.4(BLM):c.3657T>C (p.Leu1219=)
NM_000057.4(BLM):c.3663A>G (p.Glu1221=)
NM_000057.4(BLM):c.3666T>A (p.Leu1222=) rs1301144106
NM_000057.4(BLM):c.3702T>C (p.Gly1234=) rs2151194969
NM_000057.4(BLM):c.3717T>C (p.Asn1239=)
NM_000057.4(BLM):c.3726T>C (p.Asn1242=) rs1567063258
NM_000057.4(BLM):c.3735T>A (p.Thr1245=)
NM_000057.4(BLM):c.3735T>G (p.Thr1245=)
NM_000057.4(BLM):c.3741G>A (p.Lys1247=) rs2151195000
NM_000057.4(BLM):c.3744G>A (p.Lys1248=) rs1596268347
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3751+10C>A rs199685140
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3751+11A>G rs1275107089
NM_000057.4(BLM):c.3751+11del
NM_000057.4(BLM):c.3751+12T>C
NM_000057.4(BLM):c.3751+13G>T rs2151195051
NM_000057.4(BLM):c.3751+14T>C rs2151195056
NM_000057.4(BLM):c.3751+15A>G
NM_000057.4(BLM):c.3751+17C>T
NM_000057.4(BLM):c.3751+18C>G rs2151195059
NM_000057.4(BLM):c.3751+18C>T
NM_000057.4(BLM):c.3751+21del
NM_000057.4(BLM):c.3751+7dup
NM_000057.4(BLM):c.3751+8C>T rs765243972
NM_000057.4(BLM):c.3752-10C>T
NM_000057.4(BLM):c.3752-12G>T
NM_000057.4(BLM):c.3752-14A>G
NM_000057.4(BLM):c.3752-14A>T rs1897346689
NM_000057.4(BLM):c.3752-15T>G
NM_000057.4(BLM):c.3752-18T>C rs1897346458
NM_000057.4(BLM):c.3752-4A>G rs1489122577
NM_000057.4(BLM):c.3752-5C>A
NM_000057.4(BLM):c.3752-5C>T rs2151198253
NM_000057.4(BLM):c.3752-8T>C rs1897346891
NM_000057.4(BLM):c.3752-9T>C
NM_000057.4(BLM):c.3759A>G (p.Leu1253=) rs1596271761
NM_000057.4(BLM):c.3768T>C (p.Asp1256=) rs2151198276
NM_000057.4(BLM):c.3774G>A (p.Glu1258=) rs1596271783
NM_000057.4(BLM):c.3777T>A (p.Val1259=) rs2151198287
NM_000057.4(BLM):c.3778T>C (p.Leu1260=) rs2151198289
NM_000057.4(BLM):c.378A>G (p.Pro126=)
NM_000057.4(BLM):c.3798T>C (p.Val1266=)
NM_000057.4(BLM):c.3801T>G (p.Thr1267=)
NM_000057.4(BLM):c.3810A>G (p.Lys1270=)
NM_000057.4(BLM):c.3831A>G (p.Glu1277=) rs2151198335
NM_000057.4(BLM):c.3834G>C (p.Val1278=) rs2151198344
NM_000057.4(BLM):c.3834G>T (p.Val1278=)
NM_000057.4(BLM):c.3843A>G (p.Val1281=) rs764839828
NM_000057.4(BLM):c.3844T>C (p.Leu1282=)
NM_000057.4(BLM):c.384A>G (p.Val128=) rs2151147254
NM_000057.4(BLM):c.3855C>T (p.Tyr1285=) rs1057516728
NM_000057.4(BLM):c.3861A>G (p.Glu1287=) rs977539638
NM_000057.4(BLM):c.3870G>A (p.Ser1290=) rs1250145765
NM_000057.4(BLM):c.3870G>T (p.Ser1290=)
NM_000057.4(BLM):c.3874+10C>A
NM_000057.4(BLM):c.3874+10C>T rs746130539
NM_000057.4(BLM):c.3874+11del
NM_000057.4(BLM):c.3874+13C>G
NM_000057.4(BLM):c.3874+13C>T rs1415763304
NM_000057.4(BLM):c.3874+15A>G
NM_000057.4(BLM):c.3874+16T>C
NM_000057.4(BLM):c.3874+16TG[2] rs2151198446
NM_000057.4(BLM):c.3874+17G>T rs773040544
NM_000057.4(BLM):c.3874+20T>A
NM_000057.4(BLM):c.3874+3T>C rs2151198427
NM_000057.4(BLM):c.3875-14T>C rs1897405940
NM_000057.4(BLM):c.3875-19C>A rs746113158
NM_000057.4(BLM):c.3875-20T>A
NM_000057.4(BLM):c.3875-7T>C rs2151199681
NM_000057.4(BLM):c.3875-8A>C rs1897406255
NM_000057.4(BLM):c.3876T>C (p.Ala1292=) rs1596273405
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3882C>T (p.Asp1294=)
NM_000057.4(BLM):c.3885T>C (p.Ser1295=)
NM_000057.4(BLM):c.3888C>A (p.Ser1296=) rs2151199719
NM_000057.4(BLM):c.3894G>A (p.Gly1298=)
NM_000057.4(BLM):c.3894G>C (p.Gly1298=) rs1596273453
NM_000057.4(BLM):c.3897A>C (p.Ile1299=)
NM_000057.4(BLM):c.3900C>T (p.Ser1300=) rs769564626
NM_000057.4(BLM):c.3901C>T (p.Leu1301=)
NM_000057.4(BLM):c.3906C>A (p.Ser1302=) rs2151199747
NM_000057.4(BLM):c.3906C>T (p.Ser1302=)
NM_000057.4(BLM):c.3909C>T (p.Ser1303=) rs1897408551
NM_000057.4(BLM):c.3912C>T (p.Ser1304=)
NM_000057.4(BLM):c.3918C>T (p.Gly1306=) rs1393792078
NM_000057.4(BLM):c.3921C>G (p.Pro1307=)
NM_000057.4(BLM):c.3936T>A (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.3936T>C (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.3936T>G (p.Ala1312=)
NM_000057.4(BLM):c.3939G>A (p.Glu1313=) rs2151199812
NM_000057.4(BLM):c.393C>T (p.Ser131=) rs1596218349
NM_000057.4(BLM):c.3945C>G (p.Leu1315=)
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) rs375896520
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) rs1555425082
NM_000057.4(BLM):c.3960C>G (p.Pro1320=)
NM_000057.4(BLM):c.3963A>G (p.Val1321=) rs1325601639
NM_000057.4(BLM):c.396G>A (p.Arg132=) rs2151147285
NM_000057.4(BLM):c.3978T>C (p.Phe1326=) rs1265868495
NM_000057.4(BLM):c.3990C>G (p.Thr1330=) rs2151199889
NM_000057.4(BLM):c.3990C>T (p.Thr1330=) rs2151199889
NM_000057.4(BLM):c.399T>C (p.Asp133=)
NM_000057.4(BLM):c.4002G>A (p.Arg1334=)
NM_000057.4(BLM):c.4005G>A (p.Lys1335=) rs1449845656
NM_000057.4(BLM):c.4023C>A (p.Ala1341=) rs1596273681
NM_000057.4(BLM):c.4026C>T (p.Ser1342=) rs766689783
NM_000057.4(BLM):c.4029A>G (p.Gln1343=) rs1596273696
NM_000057.4(BLM):c.4038G>A (p.Lys1346=) rs2151199967
NM_000057.4(BLM):c.4041G>A (p.Arg1347=)
NM_000057.4(BLM):c.4050T>C (p.Thr1350=)
NM_000057.4(BLM):c.4068G>A (p.Lys1356=) rs587779890
NM_000057.4(BLM):c.4074G>A (p.Lys1358=)
NM_000057.4(BLM):c.4076+10G>A rs376445417
NM_000057.4(BLM):c.4076+10G>C rs376445417
NM_000057.4(BLM):c.4076+15A>G rs1897418799
NM_000057.4(BLM):c.4076+17C>A rs2151200054
NM_000057.4(BLM):c.4076+17C>G
NM_000057.4(BLM):c.4076+19T>C
NM_000057.4(BLM):c.4076+9T>C rs1272366101
NM_000057.4(BLM):c.4077-11T>C
NM_000057.4(BLM):c.4077-13dup
NM_000057.4(BLM):c.4077-17T>C
NM_000057.4(BLM):c.4077-6T>A
NM_000057.4(BLM):c.4077-8C>T rs2151202218
NM_000057.4(BLM):c.4077-9A>G
NM_000057.4(BLM):c.4080G>T (p.Gly1360=)
NM_000057.4(BLM):c.4089A>G (p.Thr1363=) rs2151202237
NM_000057.4(BLM):c.4089A>T (p.Thr1363=) rs2151202237
NM_000057.4(BLM):c.4098G>A (p.Lys1366=)
NM_000057.4(BLM):c.4104T>G (p.Ser1368=) rs2151202259
NM_000057.4(BLM):c.4107C>T (p.Ser1369=)
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.4113G>T (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4116A>G (p.Lys1372=) rs753664070
NM_000057.4(BLM):c.4119C>T (p.Ser1373=) rs1210181566
NM_000057.4(BLM):c.411G>A (p.Lys137=)
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4125C>T (p.Ser1375=)
NM_000057.4(BLM):c.4131T>C (p.Ile1377=)
NM_000057.4(BLM):c.4134A>T (p.Gly1378=) rs2151202294
NM_000057.4(BLM):c.4140T>C (p.Ser1380=) rs747834576
NM_000057.4(BLM):c.4146C>T (p.Ala1382=)
NM_000057.4(BLM):c.4155T>C (p.Thr1385=)
NM_000057.4(BLM):c.4158T>A (p.Ser1386=) rs746522338
NM_000057.4(BLM):c.4164G>A (p.Ala1388=) rs1429829646
NM_000057.4(BLM):c.4164G>C (p.Ala1388=)
NM_000057.4(BLM):c.4164G>T (p.Ala1388=) rs1429829646
NM_000057.4(BLM):c.4167A>C (p.Thr1389=) rs2151202360
NM_000057.4(BLM):c.4170A>G (p.Ser1390=)
NM_000057.4(BLM):c.4176C>T (p.Ala1392=)
NM_000057.4(BLM):c.4179T>C (p.Asn1393=) rs1596276561
NM_000057.4(BLM):c.4191G>A (p.Gly1397=) rs1596276580
NM_000057.4(BLM):c.4200T>C (p.Ala1400=) rs1596276585
NM_000057.4(BLM):c.4209G>A (p.Lys1403=) rs1254277623
NM_000057.4(BLM):c.420A>G (p.Glu140=) rs1895615618
NM_000057.4(BLM):c.4215A>T (p.Ile1405=) rs1596276635
NM_000057.4(BLM):c.4218T>C (p.Asn1406=) rs2151202425
NM_000057.4(BLM):c.4233G>A (p.Lys1411=) rs2151202450
NM_000057.4(BLM):c.4242T>C (p.Tyr1414=) rs2151202466
NM_000057.4(BLM):c.4248C>T (p.Phe1416=) rs1567069125
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4251A>G (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4251A>T (p.Ser1417=)
NM_000057.4(BLM):c.426T>C (p.Ser142=) rs2151147337
NM_000057.4(BLM):c.42A>G (p.Glu14=) rs2151145021
NM_000057.4(BLM):c.432A>G (p.Ser144=)
NM_000057.4(BLM):c.435A>G (p.Pro145=)
NM_000057.4(BLM):c.444A>G (p.Leu148=)
NM_000057.4(BLM):c.456T>C (p.Asn152=) rs1316621251
NM_000057.4(BLM):c.459T>C (p.Asp153=) rs779259379
NM_000057.4(BLM):c.45T>A (p.Arg15=) rs1458732220
NM_000057.4(BLM):c.468T>C (p.Asp156=)
NM_000057.4(BLM):c.477C>T (p.Asp159=) rs1276097571
NM_000057.4(BLM):c.480T>C (p.Phe160=) rs1251281091
NM_000057.4(BLM):c.483T>C (p.Asp161=) rs2151147439
NM_000057.4(BLM):c.486T>C (p.Thr162=) rs1596218608
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.48C>T (p.His16=) rs757172775
NM_000057.4(BLM):c.498A>G (p.Ser166=)
NM_000057.4(BLM):c.501A>G (p.Lys167=) rs1895621474
NM_000057.4(BLM):c.504A>T (p.Ser168=) rs1596218655
NM_000057.4(BLM):c.510T>C (p.Val170=)
NM_000057.4(BLM):c.510T>G (p.Val170=)
NM_000057.4(BLM):c.513A>G (p.Thr171=)
NM_000057.4(BLM):c.513A>T (p.Thr171=) rs2151147499
NM_000057.4(BLM):c.531T>C (p.Phe177=)
NM_000057.4(BLM):c.540A>C (p.Val180=) rs763776756
NM_000057.4(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.4(BLM):c.555A>G (p.Lys185=) rs766947105
NM_000057.4(BLM):c.558A>G (p.Ser186=) rs982183816
NM_000057.4(BLM):c.561A>G (p.Lys187=) rs2151147608
NM_000057.4(BLM):c.564G>A (p.Lys188=) rs1596218841
NM_000057.4(BLM):c.570G>A (p.Lys190=) rs2151147630
NM_000057.4(BLM):c.573A>G (p.Arg191=)
NM_000057.4(BLM):c.579T>C (p.Phe193=)
NM_000057.4(BLM):c.582T>C (p.Phe194=) rs1895626638
NM_000057.4(BLM):c.588A>G (p.Ala196=)
NM_000057.4(BLM):c.600A>C (p.Thr200=) rs1427442721
NM_000057.4(BLM):c.600A>G (p.Thr200=)
NM_000057.4(BLM):c.612A>G (p.Val204=) rs2151147738
NM_000057.4(BLM):c.624G>A (p.Leu208=)
NM_000057.4(BLM):c.627T>C (p.Pro209=)
NM_000057.4(BLM):c.633C>A (p.Pro211=)
NM_000057.4(BLM):c.633C>T (p.Pro211=) rs2151147807
NM_000057.4(BLM):c.636C>G (p.Ser212=)
NM_000057.4(BLM):c.648G>A (p.Glu216=) rs1208450024
NM_000057.4(BLM):c.651A>G (p.Gln217=)
NM_000057.4(BLM):c.666G>A (p.Glu222=) rs1419771771
NM_000057.4(BLM):c.672G>A (p.Gln224=) rs1596219135
NM_000057.4(BLM):c.675G>A (p.Lys225=) rs2151147912
NM_000057.4(BLM):c.678T>C (p.Asp226=)
NM_000057.4(BLM):c.691T>C (p.Leu231=)
NM_000057.4(BLM):c.699C>T (p.Ser233=) rs200125311
NM_000057.4(BLM):c.714C>T (p.Ile238=)
NM_000057.4(BLM):c.726C>A (p.Pro242=) rs2151148064
NM_000057.4(BLM):c.726C>T (p.Pro242=) rs2151148064
NM_000057.4(BLM):c.732T>C (p.Ala244=) rs2151148080
NM_000057.4(BLM):c.738G>A (p.Val246=) rs2151148091
NM_000057.4(BLM):c.756T>C (p.Ala252=) rs1895638603
NM_000057.4(BLM):c.75A>G (p.Leu25=) rs1276887266
NM_000057.4(BLM):c.762A>G (p.Glu254=)
NM_000057.4(BLM):c.768C>T (p.Asp256=) rs765788538
NM_000057.4(BLM):c.789A>G (p.Glu263=) rs1596219365
NM_000057.4(BLM):c.795A>G (p.Glu265=) rs2151148221
NM_000057.4(BLM):c.799+12T>C
NM_000057.4(BLM):c.799+14T>A
NM_000057.4(BLM):c.799+15A>G rs2151148258
NM_000057.4(BLM):c.799+17C>T
NM_000057.4(BLM):c.799+7_799+10del rs1218966283
NM_000057.4(BLM):c.800-11T>C
NM_000057.4(BLM):c.800-13T>G
NM_000057.4(BLM):c.800-14C>T
NM_000057.4(BLM):c.800-15A>T
NM_000057.4(BLM):c.800-18_800-17delinsAA rs2151149459
NM_000057.4(BLM):c.800-20T>C
NM_000057.4(BLM):c.800-20_800-18del rs2151149455
NM_000057.4(BLM):c.800-4G>A rs1338362749
NM_000057.4(BLM):c.800-5T>C rs1596220949
NM_000057.4(BLM):c.800-9T>C
NM_000057.4(BLM):c.804T>C (p.Asn268=)
NM_000057.4(BLM):c.810A>G (p.Glu270=) rs1596220978
NM_000057.4(BLM):c.822T>C (p.Asn274=) rs1596221010
NM_000057.4(BLM):c.823T>C (p.Leu275=)
NM_000057.4(BLM):c.837A>G (p.Glu279=) rs756158096
NM_000057.4(BLM):c.84A>G (p.Ser28=) rs1166385360
NM_000057.4(BLM):c.852G>A (p.Glu284=) rs2151149592
NM_000057.4(BLM):c.855A>G (p.Lys285=)
NM_000057.4(BLM):c.861A>G (p.Pro287=) rs1555418666
NM_000057.4(BLM):c.873T>C (p.Phe291=) rs1006578287
NM_000057.4(BLM):c.876T>C (p.Asp292=) rs1336155306
NM_000057.4(BLM):c.87A>G (p.Lys29=) rs1895535691
NM_000057.4(BLM):c.882T>C (p.Asp294=) rs201168622
NM_000057.4(BLM):c.891T>C (p.Asp297=) rs2151149684
NM_000057.4(BLM):c.903T>A (p.Val301=) rs2151149711
NM_000057.4(BLM):c.903T>C (p.Val301=) rs2151149711
NM_000057.4(BLM):c.909T>G (p.Pro303=)
NM_000057.4(BLM):c.90A>G (p.Pro30=) rs2151145112
NM_000057.4(BLM):c.930T>C (p.Ser310=) rs1471248156
NM_000057.4(BLM):c.93A>G (p.Lys31=) rs2151145115
NM_000057.4(BLM):c.942C>G (p.Ser314=)
NM_000057.4(BLM):c.945T>C (p.Ser315=) rs2151149787
NM_000057.4(BLM):c.959+10C>A rs2151149826
NM_000057.4(BLM):c.959+12A>G
NM_000057.4(BLM):c.959+19T>C
NM_000057.4(BLM):c.959+20A>G
NM_000057.4(BLM):c.959+20A>T
NM_000057.4(BLM):c.959+9G>C
NM_000057.4(BLM):c.960-10T>G
NM_000057.4(BLM):c.960-16T>A
NM_000057.4(BLM):c.960-17A>T rs1567037887
NM_000057.4(BLM):c.960-3C>T rs878962653
NM_000057.4(BLM):c.960-4G>A rs1555418976
NM_000057.4(BLM):c.960-7T>C rs2151152020
NM_000057.4(BLM):c.960-9T>A
NM_000057.4(BLM):c.960-9dup rs758366991
NM_000057.4(BLM):c.966A>G (p.Leu322=) rs1361231725
NM_000057.4(BLM):c.96T>C (p.Phe32=) rs2151145118
NM_000057.4(BLM):c.972C>T (p.Asp324=) rs769094708
NM_000057.4(BLM):c.975T>C (p.Leu325=)
NM_000057.4(BLM):c.98+15T>C rs2151145139
NM_000057.4(BLM):c.98+16G>A
NM_000057.4(BLM):c.98+7G>A
NM_000057.4(BLM):c.981C>G (p.Thr327=) rs1140119
NM_000057.4(BLM):c.981C>T (p.Thr327=) rs1140119
NM_000057.4(BLM):c.99-15T>C rs2151146672
NM_000057.4(BLM):c.99-20G>A
NM_000057.4(BLM):c.99-20G>C
NM_000057.4(BLM):c.99-9A>T rs1419730289
NM_000057.4(BLM):c.99-9_99-7del rs1229333064
NM_000057.4(BLM):c.990A>G (p.Arg330=)
NM_000057.4(BLM):c.993A>G (p.Lys331=) rs2151152140
NM_000057.4(BLM):c.996G>A (p.Glu332=) rs2151152149
NM_000057.4(BLM):c.9T>C (p.Ala3=) rs1596215598
NM_001172509.2(SATB2):c.1005C>T (p.Ile335=) rs2105823089
NM_001172509.2(SATB2):c.1008C>T (p.Asn336=)
NM_001172509.2(SATB2):c.1053A>G (p.Pro351=)
NM_001172509.2(SATB2):c.1059A>C (p.Pro353=) rs1277703220
NM_001172509.2(SATB2):c.1064A>C (p.Asn355Thr) rs1283962528
NM_001172509.2(SATB2):c.1074G>T (p.Val358=)
NM_001172509.2(SATB2):c.1128T>C (p.Ser376=) rs776791250
NM_001172509.2(SATB2):c.112G>T (p.Gly38Cys) rs1458922428
NM_001172509.2(SATB2):c.1155G>A (p.Val385=)
NM_001172509.2(SATB2):c.1173+10G>A
NM_001172509.2(SATB2):c.1173+8T>A rs2105822763
NM_001172509.2(SATB2):c.1174-12C>G
NM_001172509.2(SATB2):c.1174-13C>A
NM_001172509.2(SATB2):c.1174-18T>C
NM_001172509.2(SATB2):c.1179G>A (p.Leu393=)
NM_001172509.2(SATB2):c.117C>T (p.Ser39=)
NM_001172509.2(SATB2):c.118C>G (p.Pro40Ala) rs1191904885
NM_001172509.2(SATB2):c.1203A>G (p.Glu401=) rs1574511020
NM_001172509.2(SATB2):c.1221C>T (p.Ala407=)
NM_001172509.2(SATB2):c.1290T>C (p.Asp430=)
NM_001172509.2(SATB2):c.1332T>C (p.Asn444=) rs955130914
NM_001172509.2(SATB2):c.1350G>A (p.Ser450=)
NM_001172509.2(SATB2):c.1387-10C>T rs1574506260
NM_001172509.2(SATB2):c.1387-27ATT[2]
NM_001172509.2(SATB2):c.1389C>T (p.Ala463=)
NM_001172509.2(SATB2):c.1401A>G (p.Thr467=)
NM_001172509.2(SATB2):c.1407A>G (p.Thr469=) rs373031055
NM_001172509.2(SATB2):c.1407A>T (p.Thr469=) rs373031055
NM_001172509.2(SATB2):c.1410A>G (p.Thr470=) rs2105789287
NM_001172509.2(SATB2):c.1413C>T (p.Asp471=)
NM_001172509.2(SATB2):c.1431C>T (p.Asp477=) rs765952558
NM_001172509.2(SATB2):c.1443C>T (p.Ile481=)
NM_001172509.2(SATB2):c.1452A>G (p.Thr484=) rs2105789191
NM_001172509.2(SATB2):c.1497G>A (p.Lys499=)
NM_001172509.2(SATB2):c.1503T>C (p.Ser501=)
NM_001172509.2(SATB2):c.150C>G (p.Ala50=) rs778660613
NM_001172509.2(SATB2):c.150C>T (p.Ala50=) rs778660613
NM_001172509.2(SATB2):c.1524G>C (p.Val508=) rs1574506012
NM_001172509.2(SATB2):c.1542+18A>C rs1687956913
NM_001172509.2(SATB2):c.1542+9T>C rs1306705746
NM_001172509.2(SATB2):c.1543-18G>A
NM_001172509.2(SATB2):c.1543-19C>T
NM_001172509.2(SATB2):c.1551G>A (p.Leu517=) rs760937399
NM_001172509.2(SATB2):c.1558C>T (p.Leu520=)
NM_001172509.2(SATB2):c.1577A>T (p.Asn526Ile) rs2105769212
NM_001172509.2(SATB2):c.1600C>T (p.Leu534Phe) rs2105769179
NM_001172509.2(SATB2):c.162C>T (p.Ala54=) rs2105957105
NM_001172509.2(SATB2):c.1658A>G (p.Asp553Gly)
NM_001172509.2(SATB2):c.1662C>T (p.Val554=)
NM_001172509.2(SATB2):c.169+14G>A
NM_001172509.2(SATB2):c.169+9C>T
NM_001172509.2(SATB2):c.1695C>T (p.Ser565=) rs1687513099
NM_001172509.2(SATB2):c.170-11T>C
NM_001172509.2(SATB2):c.170-17G>T
NM_001172509.2(SATB2):c.1701C>T (p.Arg567=) rs2105768987
NM_001172509.2(SATB2):c.1710C>T (p.His570=) rs764708410
NM_001172509.2(SATB2):c.1728T>C (p.Pro576=) rs1452404773
NM_001172509.2(SATB2):c.1731G>A (p.Glu577=)
NM_001172509.2(SATB2):c.1740+11C>T
NM_001172509.2(SATB2):c.1740+13G>A
NM_001172509.2(SATB2):c.1740+16C>A
NM_001172509.2(SATB2):c.1740+17G>A
NM_001172509.2(SATB2):c.1740+20_1740+29del rs749467784
NM_001172509.2(SATB2):c.1740+8T>C rs2105768843
NM_001172509.2(SATB2):c.1741-11T>G
NM_001172509.2(SATB2):c.1741-16C>T rs2105707669
NM_001172509.2(SATB2):c.1741-6T>C rs1692196719
NM_001172509.2(SATB2):c.1779T>C (p.Ser593=)
NM_001172509.2(SATB2):c.1800G>A (p.Ala600=) rs764410137
NM_001172509.2(SATB2):c.1800G>T (p.Ala600=) rs764410137
NM_001172509.2(SATB2):c.1806C>G (p.Pro602=)
NM_001172509.2(SATB2):c.1806C>T (p.Pro602=) rs1046317203
NM_001172509.2(SATB2):c.1818G>A (p.Pro606=) rs141436870
NM_001172509.2(SATB2):c.1853G>A (p.Arg618His) rs1223479618
NM_001172509.2(SATB2):c.1881G>A (p.Gly627=)
NM_001172509.2(SATB2):c.1887C>T (p.Leu629=) rs2105707174
NM_001172509.2(SATB2):c.1905T>C (p.Asp635=)
NM_001172509.2(SATB2):c.1962C>T (p.Leu654=)
NM_001172509.2(SATB2):c.1977C>T (p.Ile659=) rs1574458924
NM_001172509.2(SATB2):c.1995C>A (p.Asn665Lys) rs1692187554
NM_001172509.2(SATB2):c.2010G>A (p.Val670=)
NM_001172509.2(SATB2):c.201G>A (p.Glu67=) rs924915744
NM_001172509.2(SATB2):c.2049G>A (p.Ala683=)
NM_001172509.2(SATB2):c.204G>A (p.Gln68=) rs2105929040
NM_001172509.2(SATB2):c.205T>C (p.Leu69=) rs745323861
NM_001172509.2(SATB2):c.2088C>A (p.Thr696=) rs143484322
NM_001172509.2(SATB2):c.2116G>A (p.Gly706Ser) rs1553538875
NM_001172509.2(SATB2):c.2151G>A (p.Glu717=)
NM_001172509.2(SATB2):c.2172G>A (p.Lys724=) rs915648697
NM_001172509.2(SATB2):c.2178A>G (p.Ala726=) rs768447747
NM_001172509.2(SATB2):c.2184C>A (p.Ala728=)
NM_001172509.2(SATB2):c.2190T>A (p.Ile730=) rs1692178208
NM_001172509.2(SATB2):c.225T>C (p.Tyr75=) rs1357010510
NM_001172509.2(SATB2):c.232A>C (p.Arg78=)
NM_001172509.2(SATB2):c.246C>T (p.Ala82=) rs146889022
NM_001172509.2(SATB2):c.273G>A (p.Val91=)
NM_001172509.2(SATB2):c.282C>T (p.Ser94=)
NM_001172509.2(SATB2):c.297T>C (p.Thr99=) rs2105928877
NM_001172509.2(SATB2):c.304C>T (p.Leu102=) rs1574625153
NM_001172509.2(SATB2):c.318T>C (p.Tyr106=) rs1330378388
NM_001172509.2(SATB2):c.333G>A (p.Ala111=) rs140116634
NM_001172509.2(SATB2):c.346+11C>T
NM_001172509.2(SATB2):c.346+18C>A
NM_001172509.2(SATB2):c.347-20T>C rs1309984102
NM_001172509.2(SATB2):c.347-4G>A
NM_001172509.2(SATB2):c.357G>A (p.Lys119=) rs1185687010
NM_001172509.2(SATB2):c.390T>C (p.Tyr130=)
NM_001172509.2(SATB2):c.399T>G (p.Asp133Glu) rs1574568652
NM_001172509.2(SATB2):c.402A>G (p.Ala134=)
NM_001172509.2(SATB2):c.424A>G (p.Met142Val) rs751779659
NM_001172509.2(SATB2):c.429A>G (p.Leu143=) rs758472659
NM_001172509.2(SATB2):c.429A>T (p.Leu143=) rs758472659
NM_001172509.2(SATB2):c.438C>A (p.Val146=) rs1553496383
NM_001172509.2(SATB2):c.444T>C (p.His148=)
NM_001172509.2(SATB2):c.46C>A (p.Arg16=) rs937799874
NM_001172509.2(SATB2):c.473+10T>C rs1257456365
NM_001172509.2(SATB2):c.473+15_473+17del
NM_001172509.2(SATB2):c.473+16C>T
NM_001172509.2(SATB2):c.473+17A>T
NM_001172509.2(SATB2):c.474-11C>G
NM_001172509.2(SATB2):c.474-14G>A
NM_001172509.2(SATB2):c.51G>A (p.Arg17=)
NM_001172509.2(SATB2):c.537A>G (p.Leu179=) rs2105865933
NM_001172509.2(SATB2):c.540G>A (p.Lys180=) rs1459002785
NM_001172509.2(SATB2):c.543A>G (p.Glu181=)
NM_001172509.2(SATB2):c.552A>G (p.Lys184=)
NM_001172509.2(SATB2):c.591C>T (p.Leu197=) rs1574566787
NM_001172509.2(SATB2):c.594C>G (p.Ser198=) rs747345430
NM_001172509.2(SATB2):c.597+15G>A
NM_001172509.2(SATB2):c.597+18G>A
NM_001172509.2(SATB2):c.597+20G>A
NM_001172509.2(SATB2):c.598-13T>C
NM_001172509.2(SATB2):c.598-17A>G
NM_001172509.2(SATB2):c.598-4T>C
NM_001172509.2(SATB2):c.598-4del rs199978702
NM_001172509.2(SATB2):c.612C>T (p.Ser204=) rs2105850112
NM_001172509.2(SATB2):c.627A>G (p.Thr209=) rs1689357972
NM_001172509.2(SATB2):c.63G>A (p.Pro21=) rs2105957272
NM_001172509.2(SATB2):c.663G>A (p.Glu221=)
NM_001172509.2(SATB2):c.678T>C (p.Tyr226=)
NM_001172509.2(SATB2):c.6G>A (p.Glu2=)
NM_001172509.2(SATB2):c.700+11T>C
NM_001172509.2(SATB2):c.700+20T>C
NM_001172509.2(SATB2):c.700+9dup
NM_001172509.2(SATB2):c.701-8C>T rs2105823726
NM_001172509.2(SATB2):c.723C>T (p.Asn241=)
NM_001172509.2(SATB2):c.729A>G (p.Ser243=)
NM_001172509.2(SATB2):c.750G>A (p.Gln250=) rs1688739636
NM_001172509.2(SATB2):c.78T>G (p.Pro26=)
NM_001172509.2(SATB2):c.790C>T (p.Leu264=) rs1316738790
NM_001172509.2(SATB2):c.792G>A (p.Leu264=)
NM_001172509.2(SATB2):c.801C>T (p.Thr267=)
NM_001172509.2(SATB2):c.813T>C (p.Ser271=) rs777362152
NM_001172509.2(SATB2):c.81C>T (p.Pro27=)
NM_001172509.2(SATB2):c.825A>G (p.Gln275=) rs995750176
NM_001172509.2(SATB2):c.833A>G (p.His278Arg) rs1688736232
NM_001172509.2(SATB2):c.855A>G (p.Gln285=) rs904363589
NM_001172509.2(SATB2):c.861C>T (p.Pro287=) rs762230959
NM_001172509.2(SATB2):c.909T>C (p.Ser303=)
NM_001172509.2(SATB2):c.912A>T (p.Pro304=)
NM_001172509.2(SATB2):c.927A>G (p.Gln309=)
NM_001172509.2(SATB2):c.942C>G (p.Ala314=)
NM_001172509.2(SATB2):c.966C>A (p.Ala322=) rs139350909
NM_001172509.2(SATB2):c.966C>T (p.Ala322=)
NM_001172509.2(SATB2):c.972C>T (p.Ser324=)
NM_001172509.2(SATB2):c.974G>A (p.Arg325Gln) rs1559175031
NM_001172509.2(SATB2):c.983C>A (p.Ala328Asp) rs2105823140
NM_001172509.2(SATB2):c.994C>A (p.Pro332Thr)
NM_001172509.2(SATB2):c.996T>A (p.Pro332=)
NM_001172509.2(SATB2):c.9G>A (p.Arg3=) rs1204178808
NM_001211.6(BUB1B):c.1002C>T (p.Pro334=)
NM_001211.6(BUB1B):c.1014C>T (p.Pro338=)
NM_001211.6(BUB1B):c.1058+16G>C
NM_001211.6(BUB1B):c.1058+17G>A
NM_001211.6(BUB1B):c.1058+7G>A
NM_001211.6(BUB1B):c.1058+8_1058+9del rs1217693564
NM_001211.6(BUB1B):c.1059-7del rs770579508
NM_001211.6(BUB1B):c.105G>C (p.Gly35=)
NM_001211.6(BUB1B):c.106C>A (p.Arg36=)
NM_001211.6(BUB1B):c.1071A>G (p.Lys357=) rs1595526276
NM_001211.6(BUB1B):c.1137A>G (p.Leu379=) rs770658836
NM_001211.6(BUB1B):c.1164G>T (p.Ala388=) rs1047130
NM_001211.6(BUB1B):c.1176G>A (p.Lys392=)
NM_001211.6(BUB1B):c.1179A>G (p.Lys393=)
NM_001211.6(BUB1B):c.1209T>A (p.Ile403=) rs765503426
NM_001211.6(BUB1B):c.120G>A (p.Thr40=) rs960840123
NM_001211.6(BUB1B):c.1246C>A (p.Arg416=)
NM_001211.6(BUB1B):c.1288+12T>C rs994138926
NM_001211.6(BUB1B):c.1288+18T>G
NM_001211.6(BUB1B):c.1289-11A>C
NM_001211.6(BUB1B):c.1296A>G (p.Leu432=) rs908144833
NM_001211.6(BUB1B):c.1338T>C (p.Ile446=)
NM_001211.6(BUB1B):c.1401+20A>G
NM_001211.6(BUB1B):c.1413G>A (p.Thr471=) rs374560564
NM_001211.6(BUB1B):c.1449T>C (p.Ala483=) rs755711414
NM_001211.6(BUB1B):c.1482A>G (p.Leu494=)
NM_001211.6(BUB1B):c.1515C>T (p.Ala505=)
NM_001211.6(BUB1B):c.1517+10C>T rs373689524
NM_001211.6(BUB1B):c.1517+15G>C
NM_001211.6(BUB1B):c.1517+20del
NM_001211.6(BUB1B):c.1517+9A>G
NM_001211.6(BUB1B):c.1518-5T>C
NM_001211.6(BUB1B):c.1568-12C>G
NM_001211.6(BUB1B):c.1568-16G>T rs372690199
NM_001211.6(BUB1B):c.1568-5T>A rs2140901848
NM_001211.6(BUB1B):c.1575T>C (p.Ser525=)
NM_001211.6(BUB1B):c.1590T>A (p.Ile530=) rs777968728
NM_001211.6(BUB1B):c.159T>C (p.Asn53=)
NM_001211.6(BUB1B):c.1611A>G (p.Ser537=) rs1595529407
NM_001211.6(BUB1B):c.1620G>A (p.Lys540=) rs2140901896
NM_001211.6(BUB1B):c.1628+11T>C
NM_001211.6(BUB1B):c.1628+15T>G
NM_001211.6(BUB1B):c.1628+16G>T
NM_001211.6(BUB1B):c.1628+17_1628+24del rs755262880
NM_001211.6(BUB1B):c.1628+18T>G
NM_001211.6(BUB1B):c.1628+20T>C
NM_001211.6(BUB1B):c.1628+24_1628+31del
NM_001211.6(BUB1B):c.1628+24_1628+32del rs555567065
NM_001211.6(BUB1B):c.1628+8G>A
NM_001211.6(BUB1B):c.1629-17G>A
NM_001211.6(BUB1B):c.1677A>G (p.Ala559=)
NM_001211.6(BUB1B):c.171G>A (p.Gln57=) rs777530306
NM_001211.6(BUB1B):c.1734+16C>T
NM_001211.6(BUB1B):c.1734+9C>T
NM_001211.6(BUB1B):c.1735-20T>A
NM_001211.6(BUB1B):c.1764C>T (p.Ser588=) rs759148358
NM_001211.6(BUB1B):c.179+15T>C rs1425948264
NM_001211.6(BUB1B):c.179+8G>A
NM_001211.6(BUB1B):c.180-15C>T
NM_001211.6(BUB1B):c.1815A>T (p.Pro605=) rs778374888
NM_001211.6(BUB1B):c.1842A>G (p.Ala614=) rs2037635438
NM_001211.6(BUB1B):c.1938A>G (p.Val646=) rs1189177411
NM_001211.6(BUB1B):c.1962A>G (p.Thr654=)
NM_001211.6(BUB1B):c.1971C>T (p.Gly657=)
NM_001211.6(BUB1B):c.1980C>T (p.Tyr660=) rs564719711
NM_001211.6(BUB1B):c.2007G>A (p.Leu669=) rs2140904163
NM_001211.6(BUB1B):c.2009+10G>A
NM_001211.6(BUB1B):c.2010-16T>C
NM_001211.6(BUB1B):c.2025C>T (p.Asp675=) rs143559902
NM_001211.6(BUB1B):c.2037C>T (p.Ala679=) rs1595532884
NM_001211.6(BUB1B):c.2046C>T (p.Ser682=) rs2140905546
NM_001211.6(BUB1B):c.2073G>A (p.Ser691=) rs765906277
NM_001211.6(BUB1B):c.2073G>T (p.Ser691=)
NM_001211.6(BUB1B):c.2119C>T (p.Leu707=) rs1595532945
NM_001211.6(BUB1B):c.2139T>C (p.Thr713=)
NM_001211.6(BUB1B):c.2144-13C>T
NM_001211.6(BUB1B):c.2144-14C>G
NM_001211.6(BUB1B):c.2144-4G>A rs778833334
NM_001211.6(BUB1B):c.2144-6T>C rs1595533439
NM_001211.6(BUB1B):c.2160A>T (p.Ser720=) rs1042530525
NM_001211.6(BUB1B):c.2208G>A (p.Glu736=) rs2037685574
NM_001211.6(BUB1B):c.2238A>G (p.Glu746=)
NM_001211.6(BUB1B):c.2256G>A (p.Lys752=) rs1555383502
NM_001211.6(BUB1B):c.2257T>C (p.Leu753=)
NM_001211.6(BUB1B):c.2284+13G>A
NM_001211.6(BUB1B):c.2284+17T>A
NM_001211.6(BUB1B):c.2284+8C>A
NM_001211.6(BUB1B):c.2292G>A (p.Glu764=) rs2140906462
NM_001211.6(BUB1B):c.2337G>A (p.Lys779=) rs1301115559
NM_001211.6(BUB1B):c.2352G>A (p.Ala784=)
NM_001211.6(BUB1B):c.2352G>T (p.Ala784=)
NM_001211.6(BUB1B):c.2386-10T>C
NM_001211.6(BUB1B):c.2386-5T>C
NM_001211.6(BUB1B):c.2391T>C (p.Ser797=) rs764329961
NM_001211.6(BUB1B):c.2391T>G (p.Ser797=) rs764329961
NM_001211.6(BUB1B):c.240-18C>A
NM_001211.6(BUB1B):c.240-8C>T rs2140881724
NM_001211.6(BUB1B):c.2412C>T (p.Asp804=) rs1555383645
NM_001211.6(BUB1B):c.2448T>C (p.Asn816=) rs1595534924
NM_001211.6(BUB1B):c.2496T>C (p.Cys832=)
NM_001211.6(BUB1B):c.2511A>G (p.Gln837=)
NM_001211.6(BUB1B):c.2520C>T (p.Asn840=) rs1385699061
NM_001211.6(BUB1B):c.2535+10A>C rs1197837468
NM_001211.6(BUB1B):c.2535+8A>G rs2140907808
NM_001211.6(BUB1B):c.2565C>T (p.Thr855=)
NM_001211.6(BUB1B):c.2580G>A (p.Val860=)
NM_001211.6(BUB1B):c.2617C>T (p.Leu873=)
NM_001211.6(BUB1B):c.2678+13C>G
NM_001211.6(BUB1B):c.2703C>T (p.Asn901=)
NM_001211.6(BUB1B):c.270T>G (p.Pro90=)
NM_001211.6(BUB1B):c.2799A>G (p.Val933=) rs755014372
NM_001211.6(BUB1B):c.2820G>A (p.Lys940=)
NM_001211.6(BUB1B):c.2829T>C (p.Ala943=)
NM_001211.6(BUB1B):c.2850+18C>T
NM_001211.6(BUB1B):c.2850+9A>G rs760887408
NM_001211.6(BUB1B):c.2851-14T>C
NM_001211.6(BUB1B):c.2851-16C>T rs1173983809
NM_001211.6(BUB1B):c.2862T>C (p.Phe954=) rs2140912298
NM_001211.6(BUB1B):c.2931C>T (p.Phe977=)
NM_001211.6(BUB1B):c.2957+19C>T
NM_001211.6(BUB1B):c.2957+8T>C rs2037835582
NM_001211.6(BUB1B):c.2958-13T>A
NM_001211.6(BUB1B):c.2988C>T (p.Phe996=)
NM_001211.6(BUB1B):c.2997G>A (p.Arg999=) rs2140914718
NM_001211.6(BUB1B):c.300G>A (p.Thr100=)
NM_001211.6(BUB1B):c.3024A>G (p.Thr1008=) rs2140914771
NM_001211.6(BUB1B):c.303A>G (p.Leu101=) rs2140881797
NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=)
NM_001211.6(BUB1B):c.318A>G (p.Val106=)
NM_001211.6(BUB1B):c.327A>G (p.Leu109=)
NM_001211.6(BUB1B):c.35+9G>A rs762785947
NM_001211.6(BUB1B):c.366C>T (p.Leu122=)
NM_001211.6(BUB1B):c.384+13C>T
NM_001211.6(BUB1B):c.384+9_384+12del rs777147964
NM_001211.6(BUB1B):c.385-19G>A
NM_001211.6(BUB1B):c.385-7G>C rs2140885381
NM_001211.6(BUB1B):c.480A>G (p.Glu160=)
NM_001211.6(BUB1B):c.495A>G (p.Arg165=) rs1446251301
NM_001211.6(BUB1B):c.504T>C (p.Phe168=)
NM_001211.6(BUB1B):c.519G>A (p.Ala173=) rs1595514496
NM_001211.6(BUB1B):c.540A>G (p.Gln180=) rs1595514520
NM_001211.6(BUB1B):c.581+10_581+13del rs762654787
NM_001211.6(BUB1B):c.581+18C>T
NM_001211.6(BUB1B):c.581+7T>G rs1595514579
NM_001211.6(BUB1B):c.591A>G (p.Gln197=) rs2140889748
NM_001211.6(BUB1B):c.615G>T (p.Leu205=)
NM_001211.6(BUB1B):c.627G>A (p.Glu209=) rs1354561256
NM_001211.6(BUB1B):c.630A>G (p.Lys210=)
NM_001211.6(BUB1B):c.663A>G (p.Val221=) rs774346563
NM_001211.6(BUB1B):c.679C>T (p.Leu227=) rs1211327766
NM_001211.6(BUB1B):c.684T>C (p.Ala228=)
NM_001211.6(BUB1B):c.6G>A (p.Ala2=)
NM_001211.6(BUB1B):c.714A>C (p.Ala238=)
NM_001211.6(BUB1B):c.751+9G>C rs372133651
NM_001211.6(BUB1B):c.752-5C>T rs2140890656
NM_001211.6(BUB1B):c.752-6T>C rs2140890655
NM_001211.6(BUB1B):c.774C>T (p.Leu258=)
NM_001211.6(BUB1B):c.783A>C (p.Pro261=)
NM_001211.6(BUB1B):c.795G>A (p.Gln265=)
NM_001211.6(BUB1B):c.837T>C (p.Ala279=)
NM_001211.6(BUB1B):c.882A>C (p.Pro294=) rs1595519781
NM_001211.6(BUB1B):c.882A>G (p.Pro294=)
NM_001211.6(BUB1B):c.897C>A (p.Pro299=)
NM_001211.6(BUB1B):c.897C>G (p.Pro299=) rs374307209
NM_001211.6(BUB1B):c.903C>T (p.Pro301=) rs2140890815
NM_001211.6(BUB1B):c.966+20G>T
NM_001211.6(BUB1B):c.966+7A>C rs1595519855
NM_001211.6(BUB1B):c.967-17TTC[2] rs748654731
NM_001211.6(BUB1B):c.967-8A>C rs2037349939
NM_001211.6(BUB1B):c.967-8A>G
NM_001211.6(BUB1B):c.99G>A (p.Arg33=)
NM_001378120.1(MBD5):c.1023A>C (p.Pro341=)
NM_001378120.1(MBD5):c.1035T>C (p.Ala345=) rs2105628565
NM_001378120.1(MBD5):c.1041G>A (p.Gln347=)
NM_001378120.1(MBD5):c.1041G>T (p.Gln347His) rs746751148
NM_001378120.1(MBD5):c.1053A>G (p.Leu351=)
NM_001378120.1(MBD5):c.1116C>T (p.Asn372=)
NM_001378120.1(MBD5):c.1117C>G (p.Pro373Ala) rs2105629390
NM_001378120.1(MBD5):c.1119T>C (p.Pro373=) rs1574459848
NM_001378120.1(MBD5):c.113+8C>A rs886054908
NM_001378120.1(MBD5):c.113+8C>T
NM_001378120.1(MBD5):c.113+9T>C
NM_001378120.1(MBD5):c.113+9T>G rs1313785203
NM_001378120.1(MBD5):c.113+9TTA[2]
NM_001378120.1(MBD5):c.1130A>G (p.Asn377Ser) rs2105629613
NM_001378120.1(MBD5):c.114-20T>G
NM_001378120.1(MBD5):c.1149A>G (p.Ser383=)
NM_001378120.1(MBD5):c.1170T>C (p.Pro390=)
NM_001378120.1(MBD5):c.1185C>T (p.Ser395=)
NM_001378120.1(MBD5):c.1260G>C (p.Gly420=) rs2105631059
NM_001378120.1(MBD5):c.1278T>C (p.Val426=)
NM_001378120.1(MBD5):c.1311T>A (p.Ser437=) rs1574460166
NM_001378120.1(MBD5):c.1344T>C (p.Thr448=)
NM_001378120.1(MBD5):c.1356G>A (p.Arg452=)
NM_001378120.1(MBD5):c.1365A>G (p.Ala455=)
NM_001378120.1(MBD5):c.1386A>G (p.Ser462=) rs2105632499
NM_001378120.1(MBD5):c.1388C>A (p.Ser463Tyr) rs2105632518
NM_001378120.1(MBD5):c.1398A>T (p.Ser466=)
NM_001378120.1(MBD5):c.1406A>C (p.His469Pro) rs766571687
NM_001378120.1(MBD5):c.1407T>C (p.His469=) rs1365232702
NM_001378120.1(MBD5):c.1413T>C (p.Asn471=)
NM_001378120.1(MBD5):c.1443C>T (p.Ala481=)
NM_001378120.1(MBD5):c.1462G>C (p.Val488Leu) rs778427674
NM_001378120.1(MBD5):c.1476_1496del (p.Ser495_Arg501del) rs1680712835
NM_001378120.1(MBD5):c.1484CAA[1] (p.Thr496del) rs1680713005
NM_001378120.1(MBD5):c.1503G>A (p.Arg501=)
NM_001378120.1(MBD5):c.1539T>C (p.Asp513=)
NM_001378120.1(MBD5):c.1551G>A (p.Gln517=) rs751801483
NM_001378120.1(MBD5):c.1563C>T (p.Ile521=) rs2105634281
NM_001378120.1(MBD5):c.1578T>A (p.Ile526=) rs2105634428
NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn) rs558138423
NM_001378120.1(MBD5):c.1593T>C (p.Asn531=)
NM_001378120.1(MBD5):c.162G>C (p.Leu54=)
NM_001378120.1(MBD5):c.1663C>G (p.Pro555Ala) rs1422887607
NM_001378120.1(MBD5):c.1677A>G (p.Gly559=)
NM_001378120.1(MBD5):c.1682C>T (p.Pro561Leu) rs1680723459
NM_001378120.1(MBD5):c.1710T>C (p.Asn570=)
NM_001378120.1(MBD5):c.1713T>G (p.Ala571=) rs1436943242
NM_001378120.1(MBD5):c.1735T>C (p.Leu579=) rs1229800294
NM_001378120.1(MBD5):c.1773A>G (p.Gln591=)
NM_001378120.1(MBD5):c.1818A>G (p.Gly606=) rs2105636898
NM_001378120.1(MBD5):c.1828G>T (p.Gly610Cys) rs142495834
NM_001378120.1(MBD5):c.1837A>G (p.Asn613Asp) rs398124341
NM_001378120.1(MBD5):c.1842T>C (p.Thr614=) rs1553518662
NM_001378120.1(MBD5):c.1865C>T (p.Thr622Ile) rs2105637430
NM_001378120.1(MBD5):c.1872C>T (p.Phe624=) rs540529414
NM_001378120.1(MBD5):c.189C>T (p.Gly63=) rs1707127066
NM_001378120.1(MBD5):c.18G>A (p.Glu6=)
NM_001378120.1(MBD5):c.1911G>A (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.1913A>G (p.Gln638Arg) rs1680733017
NM_001378120.1(MBD5):c.1941G>A (p.Lys647=) rs2105638169
NM_001378120.1(MBD5):c.1966T>C (p.Leu656=)
NM_001378120.1(MBD5):c.1974A>G (p.Lys658=) rs2105638538
NM_001378120.1(MBD5):c.1989T>C (p.Pro663=) rs2105638695
NM_001378120.1(MBD5):c.198T>C (p.Cys66=) rs2105571649
NM_001378120.1(MBD5):c.2108A>G (p.Gln703Arg) rs1553518707
NM_001378120.1(MBD5):c.2109G>C (p.Gln703His) rs767521281
NM_001378120.1(MBD5):c.2115A>G (p.Leu705=) rs1680742184
NM_001378120.1(MBD5):c.2121T>C (p.Ser707=) rs377427161
NM_001378120.1(MBD5):c.2160C>G (p.Thr720=) rs1680743868
NM_001378120.1(MBD5):c.2163G>T (p.Pro721=) rs1241365384
NM_001378120.1(MBD5):c.2170G>A (p.Gly724Arg) rs1553518717
NM_001378120.1(MBD5):c.2172G>A (p.Gly724=)
NM_001378120.1(MBD5):c.2187T>G (p.Ala729=) rs561323622
NM_001378120.1(MBD5):c.2268G>A (p.Gly756=)
NM_001378120.1(MBD5):c.2271A>G (p.Glu757=) rs2105641334
NM_001378120.1(MBD5):c.2322A>G (p.Pro774=)
NM_001378120.1(MBD5):c.2370C>A (p.Ser790Arg) rs376037852
NM_001378120.1(MBD5):c.2373G>A (p.Gly791=) rs772842301
NM_001378120.1(MBD5):c.2373G>C (p.Gly791=)
NM_001378120.1(MBD5):c.2376C>T (p.Asn792=)
NM_001378120.1(MBD5):c.2384T>C (p.Met795Thr) rs1446479503
NM_001378120.1(MBD5):c.2388C>T (p.Leu796=)
NM_001378120.1(MBD5):c.2396C>G (p.Ser799Trp) rs759990854
NM_001378120.1(MBD5):c.2397G>A (p.Ser799=) rs2105642607
NM_001378120.1(MBD5):c.2415T>C (p.Asn805=)
NM_001378120.1(MBD5):c.2429A>G (p.Asn810Ser) rs754126406
NM_001378120.1(MBD5):c.2439G>A (p.Gln813=)
NM_001378120.1(MBD5):c.2442A>G (p.Ser814=) rs2105643173
NM_001378120.1(MBD5):c.2472A>C (p.Ile824=) rs1574462288
NM_001378120.1(MBD5):c.2508T>C (p.Ser836=)
NM_001378120.1(MBD5):c.2518+16A>G
NM_001378120.1(MBD5):c.2518+7T>A
NM_001378120.1(MBD5):c.2519-10T>C
NM_001378120.1(MBD5):c.2519-16T>G
NM_001378120.1(MBD5):c.2519-8C>T rs761957089
NM_001378120.1(MBD5):c.2519-8del rs1467351680
NM_001378120.1(MBD5):c.2526A>G (p.Ser842=)
NM_001378120.1(MBD5):c.2530C>T (p.Pro844Ser) rs1283171716
NM_001378120.1(MBD5):c.253A>C (p.Arg85=)
NM_001378120.1(MBD5):c.2541C>A (p.Ser847=) rs1574476656
NM_001378120.1(MBD5):c.2552C>T (p.Ala851Val) rs144557654
NM_001378120.1(MBD5):c.2558C>A (p.Thr853Asn) rs780490918
NM_001378120.1(MBD5):c.2559C>A (p.Thr853=) rs1681216580
NM_001378120.1(MBD5):c.2565C>T (p.His855=) rs2105071741
NM_001378120.1(MBD5):c.2577A>G (p.Thr859=) rs2105071848
NM_001378120.1(MBD5):c.2586A>C (p.Thr862=) rs1681217813
NM_001378120.1(MBD5):c.2595T>A (p.Leu865=) rs2105072069
NM_001378120.1(MBD5):c.2598A>G (p.Gln866=)
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile) rs116207524
NM_001378120.1(MBD5):c.2637G>C (p.Leu879=) rs2105072411
NM_001378120.1(MBD5):c.2646G>A (p.Gln882=)
NM_001378120.1(MBD5):c.2648T>C (p.Leu883Pro) rs1681220458
NM_001378120.1(MBD5):c.2649A>G (p.Leu883=) rs1681220561
NM_001378120.1(MBD5):c.2685G>A (p.Glu895=) rs2105072801
NM_001378120.1(MBD5):c.2689G>A (p.Ala897Thr) rs778516851
NM_001378120.1(MBD5):c.2724C>G (p.Asn908Lys) rs779824788
NM_001378120.1(MBD5):c.2727T>A (p.His909Gln) rs1681223550
NM_001378120.1(MBD5):c.2772C>T (p.Ile924=)
NM_001378120.1(MBD5):c.2778G>A (p.Leu926=) rs760520878
NM_001378120.1(MBD5):c.27A>T (p.Gly9=)
NM_001378120.1(MBD5):c.2814A>G (p.Leu938=)
NM_001378120.1(MBD5):c.2829G>A (p.Gln943=)
NM_001378120.1(MBD5):c.2856G>A (p.Glu952=)
NM_001378120.1(MBD5):c.2861A>G (p.Asn954Ser)
NM_001378120.1(MBD5):c.30G>A (p.Gly10=)
NM_001378120.1(MBD5):c.332C>T (p.Thr111Ile) rs1707174997
NM_001378120.1(MBD5):c.3555A>G (p.Ser1185=)
NM_001378120.1(MBD5):c.3558A>C (p.Ser1186=)
NM_001378120.1(MBD5):c.3567T>C (p.Asn1189=)
NM_001378120.1(MBD5):c.3595C>T (p.Leu1199=) rs2105093530
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=) rs138058889
NM_001378120.1(MBD5):c.3607T>C (p.Leu1203=) rs1574480161
NM_001378120.1(MBD5):c.3636T>C (p.Asn1212=)
NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His) rs1465735521
NM_001378120.1(MBD5):c.3657C>T (p.Leu1219=)
NM_001378120.1(MBD5):c.3663G>A (p.Gly1221=) rs774912000
NM_001378120.1(MBD5):c.3666C>T (p.Tyr1222=) rs781114483
NM_001378120.1(MBD5):c.3675C>G (p.Leu1225=) rs1681323012
NM_001378120.1(MBD5):c.3699A>G (p.Thr1233=) rs2105094289
NM_001378120.1(MBD5):c.3707G>T (p.Cys1236Phe) rs2105094326
NM_001378120.1(MBD5):c.3714T>C (p.Ala1238=)
NM_001378120.1(MBD5):c.3753+11C>A
NM_001378120.1(MBD5):c.3753+15T>A rs1057524750
NM_001378120.1(MBD5):c.3754-15_3754-12del
NM_001378120.1(MBD5):c.3754-20T>C
NM_001378120.1(MBD5):c.3768A>G (p.Glu1256=) rs1681443066
NM_001378120.1(MBD5):c.3786C>G (p.Asn1262Lys) rs771343592
NM_001378120.1(MBD5):c.3786C>T (p.Asn1262=) rs771343592
NM_001378120.1(MBD5):c.3793A>G (p.Ile1265Val) rs774513612
NM_001378120.1(MBD5):c.3803A>C (p.Gln1268Pro) rs1559098476
NM_001378120.1(MBD5):c.3837C>T (p.Asn1279=) rs772658882
NM_001378120.1(MBD5):c.3840T>C (p.Thr1280=) rs1681446139
NM_001378120.1(MBD5):c.3864A>C (p.Thr1288=)
NM_001378120.1(MBD5):c.3894A>C (p.Pro1298=)
NM_001378120.1(MBD5):c.3920G>T (p.Gly1307Val) rs2105124889
NM_001378120.1(MBD5):c.3936C>T (p.Gly1312=)
NM_001378120.1(MBD5):c.3959C>T (p.Ala1320Val) rs1479424507
NM_001378120.1(MBD5):c.3963T>C (p.Ile1321=) rs2105125356
NM_001378120.1(MBD5):c.397+10A>T rs2105582849
NM_001378120.1(MBD5):c.397+8A>G
NM_001378120.1(MBD5):c.398-11T>C
NM_001378120.1(MBD5):c.398-18T>C
NM_001378120.1(MBD5):c.398-5A>G
NM_001378120.1(MBD5):c.3988A>G (p.Ser1330Gly) rs753239849
NM_001378120.1(MBD5):c.4002G>A (p.Gln1334=)
NM_001378120.1(MBD5):c.4017T>C (p.Thr1339=) rs2105125745
NM_001378120.1(MBD5):c.4020A>G (p.Ala1340=) rs1273991401
NM_001378120.1(MBD5):c.4032A>C (p.Thr1344=)
NM_001378120.1(MBD5):c.4083C>T (p.Ala1361=) rs2105126139
NM_001378120.1(MBD5):c.4098A>G (p.Pro1366=) rs2105126312
NM_001378120.1(MBD5):c.4116T>C (p.Ala1372=)
NM_001378120.1(MBD5):c.4122T>C (p.Ser1374=) rs2105126495
NM_001378120.1(MBD5):c.4127T>A (p.Val1376Asp) rs1227323118
NM_001378120.1(MBD5):c.4134T>G (p.His1378Gln) rs1051689897
NM_001378120.1(MBD5):c.4159C>A (p.His1387Asn) rs2105127038
NM_001378120.1(MBD5):c.4170G>A (p.Arg1390=) rs1312513915
NM_001378120.1(MBD5):c.417T>C (p.Pro139=)
NM_001378120.1(MBD5):c.4183A>C (p.Arg1395=)
NM_001378120.1(MBD5):c.4188G>A (p.Gly1396=) rs1443120715
NM_001378120.1(MBD5):c.4194G>A (p.Arg1398=) rs2105127403
NM_001378120.1(MBD5):c.4209A>G (p.Leu1403=)
NM_001378120.1(MBD5):c.4230C>T (p.Asn1410=)
NM_001378120.1(MBD5):c.4238A>T (p.Asp1413Val) rs752035001
NM_001378120.1(MBD5):c.4275A>C (p.Thr1425=)
NM_001378120.1(MBD5):c.4293C>T (p.Asp1431=)
NM_001378120.1(MBD5):c.4294G>C (p.Gly1432Arg) rs201334086
NM_001378120.1(MBD5):c.4296G>A (p.Gly1432=)
NM_001378120.1(MBD5):c.4296G>C (p.Gly1432=) rs746043647
NM_001378120.1(MBD5):c.4326G>A (p.Arg1442=) rs766189023
NM_001378120.1(MBD5):c.4347A>G (p.Leu1449=) rs2105128674
NM_001378120.1(MBD5):c.4410G>A (p.Leu1470=)
NM_001378120.1(MBD5):c.4419G>T (p.Leu1473=) rs748173028
NM_001378120.1(MBD5):c.4441C>T (p.Leu1481=)
NM_001378120.1(MBD5):c.4446A>G (p.Leu1482=)
NM_001378120.1(MBD5):c.4464A>G (p.Pro1488=) rs2105129699
NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser) rs762922278
NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val) rs898923113
NM_001378120.1(MBD5):c.4548T>C (p.Thr1516=) rs1681478115
NM_001378120.1(MBD5):c.4557A>G (p.Arg1519=) rs1681478303
NM_001378120.1(MBD5):c.457C>T (p.His153Tyr) rs2105622546
NM_001378120.1(MBD5):c.4581A>G (p.Arg1527=) rs1055672536
NM_001378120.1(MBD5):c.4589A>G (p.Gln1530Arg) rs1681479202
NM_001378120.1(MBD5):c.4590G>A (p.Gln1530=) rs1057521419
NM_001378120.1(MBD5):c.4596G>A (p.Arg1532=) rs2105130693
NM_001378120.1(MBD5):c.4623A>G (p.Ala1541=) rs1574485595
NM_001378120.1(MBD5):c.4634T>C (p.Leu1545Pro) rs1474107442
NM_001378120.1(MBD5):c.4644G>A (p.Glu1548=)
NM_001378120.1(MBD5):c.4647G>A (p.Glu1549=)
NM_001378120.1(MBD5):c.4718T>G (p.Phe1573Cys) rs1406467148
NM_001378120.1(MBD5):c.4722T>C (p.Asn1574=)
NM_001378120.1(MBD5):c.4733T>G (p.Val1578Gly) rs1681484970
NM_001378120.1(MBD5):c.4749T>C (p.Pro1583=) rs1057523104
NM_001378120.1(MBD5):c.477T>C (p.Ser159=) rs2105622763
NM_001378120.1(MBD5):c.4800A>G (p.Pro1600=) rs1553520655
NM_001378120.1(MBD5):c.4845G>A (p.Thr1615=) rs759890387
NM_001378120.1(MBD5):c.4878C>T (p.Ile1626=)
NM_001378120.1(MBD5):c.4889C>A (p.Thr1630Asn) rs2105133001
NM_001378120.1(MBD5):c.4890T>C (p.Thr1630=)
NM_001378120.1(MBD5):c.4935A>C (p.Ser1645=) rs149419174
NM_001378120.1(MBD5):c.4935A>G (p.Ser1645=) rs149419174
NM_001378120.1(MBD5):c.4950C>G (p.Pro1650=) rs148394839
NM_001378120.1(MBD5):c.4950C>T (p.Pro1650=) rs148394839
NM_001378120.1(MBD5):c.4962+7C>T
NM_001378120.1(MBD5):c.4995A>G (p.Glu1665=) rs1057521520
NM_001378120.1(MBD5):c.5007C>T (p.Ala1669=) rs2105226035
NM_001378120.1(MBD5):c.5010C>T (p.Tyr1670=) rs1057523158
NM_001378120.1(MBD5):c.5025A>G (p.Lys1675=) rs1574497842
NM_001378120.1(MBD5):c.5033G>T (p.Arg1678Ile) rs749723920
NM_001378120.1(MBD5):c.5036+8del
NM_001378120.1(MBD5):c.5037-12C>T
NM_001378120.1(MBD5):c.5037-19T>G
NM_001378120.1(MBD5):c.5049A>C (p.Leu1683=)
NM_001378120.1(MBD5):c.504C>A (p.Phe168Leu) rs2105622881
NM_001378120.1(MBD5):c.5073T>A (p.Ile1691=)
NM_001378120.1(MBD5):c.5109G>A (p.Gly1703=)
NM_001378120.1(MBD5):c.5112+11T>G rs2105278869
NM_001378120.1(MBD5):c.5113-16A>G
NM_001378120.1(MBD5):c.5113-18C>T
NM_001378120.1(MBD5):c.5151C>T (p.Pro1717=)
NM_001378120.1(MBD5):c.516T>C (p.Ile172=)
NM_001378120.1(MBD5):c.5181A>G (p.Arg1727=)
NM_001378120.1(MBD5):c.528T>C (p.Asn176=) rs1574458750
NM_001378120.1(MBD5):c.531C>T (p.Ala177=) rs2105623085
NM_001378120.1(MBD5):c.537A>G (p.Gly179=) rs1204024575
NM_001378120.1(MBD5):c.539G>A (p.Arg180Lys) rs1680666184
NM_001378120.1(MBD5):c.543A>G (p.Leu181=)
NM_001378120.1(MBD5):c.589G>T (p.Val197Phe) rs760892595
NM_001378120.1(MBD5):c.599G>T (p.Arg200Leu) rs149278000
NM_001378120.1(MBD5):c.603G>A (p.Gln201=)
NM_001378120.1(MBD5):c.606A>T (p.Arg202Ser) rs1553518446
NM_001378120.1(MBD5):c.638C>T (p.Pro213Leu) rs755861220
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378120.1(MBD5):c.648C>A (p.Gly216=) rs1188063685
NM_001378120.1(MBD5):c.654T>C (p.His218=) rs1353208243
NM_001378120.1(MBD5):c.666C>T (p.Pro222=) rs1349108004
NM_001378120.1(MBD5):c.66T>C (p.Pro22=)
NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser) rs1680672685
NM_001378120.1(MBD5):c.696T>C (p.Tyr232=)
NM_001378120.1(MBD5):c.774T>C (p.His258=)
NM_001378120.1(MBD5):c.798T>C (p.Ile266=) rs1208664164
NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr) rs768720064
NM_001378120.1(MBD5):c.81T>C (p.Arg27=) rs746075256
NM_001378120.1(MBD5):c.825A>G (p.Pro275=)
NM_001378120.1(MBD5):c.840A>G (p.Leu280=) rs2105626382
NM_001378120.1(MBD5):c.864C>G (p.Ser288=)
NM_001378120.1(MBD5):c.869C>G (p.Ala290Gly) rs1559085941
NM_001378120.1(MBD5):c.900C>T (p.Ser300=) rs2105626982
NM_001378120.1(MBD5):c.924A>C (p.Pro308=) rs778385281
NM_001378120.1(MBD5):c.939A>G (p.Pro313=) rs781250091
NM_001378120.1(MBD5):c.941T>C (p.Met314Thr) rs1168673827
NM_001378120.1(MBD5):c.987C>T (p.His329=) rs1574459598
NM_001379200.1(TBX1):c.1008C>T (p.Ser336=)
NM_001379200.1(TBX1):c.1011G>A (p.Pro337=)
NM_001379200.1(TBX1):c.1020C>T (p.Pro340=)
NM_001379200.1(TBX1):c.1023C>T (p.Ser341=) rs1227296562
NM_001379200.1(TBX1):c.1029G>A (p.Thr343=)
NM_001379200.1(TBX1):c.1036+11G>A
NM_001379200.1(TBX1):c.1036+17G>A rs1601292943
NM_001379200.1(TBX1):c.1036+18G>A
NM_001379200.1(TBX1):c.1036+18G>C rs2145837264
NM_001379200.1(TBX1):c.1037-12C>T
NM_001379200.1(TBX1):c.1037-14G>T
NM_001379200.1(TBX1):c.1037-15C>G
NM_001379200.1(TBX1):c.1037-17C>G
NM_001379200.1(TBX1):c.1037-6C>T
NM_001379200.1(TBX1):c.1051C>A (p.Arg351=)
NM_001379200.1(TBX1):c.1074G>C (p.Ala358=)
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.108C>T (p.Phe36=) rs1378203817
NM_001379200.1(TBX1):c.1095G>A (p.Gly365=)
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=) rs1010293843
NM_001379200.1(TBX1):c.1104G>C (p.Ala368=)
NM_001379200.1(TBX1):c.1120C>T (p.Leu374=)
NM_001379200.1(TBX1):c.1125C>T (p.Ala375=) rs1936849382
NM_001379200.1(TBX1):c.1137C>T (p.Ser379=)
NM_001379200.1(TBX1):c.114C>A (p.Gly38=)
NM_001379200.1(TBX1):c.114C>T (p.Gly38=)
NM_001379200.1(TBX1):c.1152G>C (p.Gly384=) rs1354472648
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3]) rs1288296547
NM_001379200.1(TBX1):c.1158C>T (p.Gly386=)
NM_001379200.1(TBX1):c.1161C>G (p.Gly387=)
NM_001379200.1(TBX1):c.1167C>A (p.Gly389=) rs111605258
NM_001379200.1(TBX1):c.1167C>T (p.Gly389=)
NM_001379200.1(TBX1):c.117C>T (p.Ala39=)
NM_001379200.1(TBX1):c.1185C>T (p.Pro395=)
NM_001379200.1(TBX1):c.1194C>T (p.Pro398=)
NM_001379200.1(TBX1):c.1212C>T (p.Pro404=) rs1168835856
NM_001379200.1(TBX1):c.1214C>A (p.Pro405Gln) rs746812421
NM_001379200.1(TBX1):c.1221C>A (p.Pro407=) rs1305509653
NM_001379200.1(TBX1):c.1224G>A (p.Glu408=)
NM_001379200.1(TBX1):c.1231C>T (p.Leu411=) rs2145838647
NM_001379200.1(TBX1):c.1239G>A (p.Ala413=) rs1228513970
NM_001379200.1(TBX1):c.1239G>C (p.Ala413=)
NM_001379200.1(TBX1):c.1239G>T (p.Ala413=)
NM_001379200.1(TBX1):c.1242C>A (p.Pro414=) rs200135498
NM_001379200.1(TBX1):c.1242C>G (p.Pro414=) rs200135498
NM_001379200.1(TBX1):c.1251G>C (p.Ser417=) rs770781746
NM_001379200.1(TBX1):c.1260G>A (p.Leu420=)
NM_001379200.1(TBX1):c.1263C>T (p.His421=)
NM_001379200.1(TBX1):c.1269C>T (p.His423=) rs761327170
NM_001379200.1(TBX1):c.126C>T (p.Pro42=)
NM_001379200.1(TBX1):c.1275C>T (p.Tyr425=) rs2145838867
NM_001379200.1(TBX1):c.1296C>T (p.Tyr432=)
NM_001379200.1(TBX1):c.1311G>A (p.Gly437=)
NM_001379200.1(TBX1):c.1317G>A (p.Lys439=)
NM_001379200.1(TBX1):c.1341G>T (p.Leu447=)
NM_001379200.1(TBX1):c.1356C>T (p.Gly452=)
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup) rs774578030
NM_001379200.1(TBX1):c.1377G>A (p.Ala459=)
NM_001379200.1(TBX1):c.1377G>T (p.Ala459=) rs771540171
NM_001379200.1(TBX1):c.1385ACC[4] (p.His466del) rs753713234
NM_001379200.1(TBX1):c.1401C>T (p.Pro467=) rs753192876
NM_001379200.1(TBX1):c.1402G>T (p.Val468Leu) rs764197422
NM_001379200.1(TBX1):c.1410A>G (p.Pro470=)
NM_001379200.1(TBX1):c.1410_1448del (p.Ala473_Ala485del) rs764911027
NM_001379200.1(TBX1):c.1419_1427del (p.Ala483_Ala485del) rs777514486
NM_001379200.1(TBX1):c.141C>T (p.Tyr47=)
NM_001379200.1(TBX1):c.1422C>T (p.Ala474=)
NM_001379200.1(TBX1):c.1422CGC[1] (p.Ala483_Ala485del)
NM_001379200.1(TBX1):c.1428C>T (p.Ala476=)
NM_001379200.1(TBX1):c.1431C>A (p.Ala477=)
NM_001379200.1(TBX1):c.1431_1439del (p.Ala483_Ala485del) rs774489872
NM_001379200.1(TBX1):c.1434T>C (p.Ala478=)
NM_001379200.1(TBX1):c.1434T>G (p.Ala478=)
NM_001379200.1(TBX1):c.1437C>G (p.Ala479=)
NM_001379200.1(TBX1):c.1440A>G (p.Ala480=)
NM_001379200.1(TBX1):c.1440_1448del (p.Ala483_Ala485del) rs748434309
NM_001379200.1(TBX1):c.1443T>C (p.Ala481=)
NM_001379200.1(TBX1):c.1473C>T (p.Ala491=) rs775895785
NM_001379200.1(TBX1):c.1488C>T (p.Pro496=)
NM_001379200.1(TBX1):c.1500C>T (p.Asp500=)
NM_001379200.1(TBX1):c.153G>A (p.Glu51=)
NM_001379200.1(TBX1):c.156C>A (p.Pro52=)
NM_001379200.1(TBX1):c.156C>T (p.Pro52=)
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup) rs886038791
NM_001379200.1(TBX1):c.183G>T (p.Pro61=) rs1422322991
NM_001379200.1(TBX1):c.195C>A (p.Ala65=)
NM_001379200.1(TBX1):c.225G>C (p.Pro75=)
NM_001379200.1(TBX1):c.228G>T (p.Pro76=)
NM_001379200.1(TBX1):c.234C>T (p.Ala78=)
NM_001379200.1(TBX1):c.237C>T (p.Tyr79=)
NM_001379200.1(TBX1):c.240G>A (p.Pro80=)
NM_001379200.1(TBX1):c.246G>T (p.Ala82=) rs1201666534
NM_001379200.1(TBX1):c.258G>A (p.Gly86=)
NM_001379200.1(TBX1):c.258G>C (p.Gly86=)
NM_001379200.1(TBX1):c.273C>T (p.Ala91=) rs1936644941
NM_001379200.1(TBX1):c.285C>G (p.Pro95=)
NM_001379200.1(TBX1):c.297G>A (p.Gly99=)
NM_001379200.1(TBX1):c.306C>T (p.Cys102=)
NM_001379200.1(TBX1):c.324G>T (p.Ala108=)
NM_001379200.1(TBX1):c.363G>T (p.Val121=)
NM_001379200.1(TBX1):c.369A>G (p.Leu123=) rs541899328
NM_001379200.1(TBX1):c.381G>T (p.Ala127=)
NM_001379200.1(TBX1):c.399C>T (p.Asn133=) rs2145828636
NM_001379200.1(TBX1):c.429G>A (p.Lys143=)
NM_001379200.1(TBX1):c.432C>T (p.Ala144=)
NM_001379200.1(TBX1):c.437+18C>G
NM_001379200.1(TBX1):c.437+18C>T
NM_001379200.1(TBX1):c.437+8C>T
NM_001379200.1(TBX1):c.45T>C (p.His15=)
NM_001379200.1(TBX1):c.465G>A (p.Lys155=)
NM_001379200.1(TBX1):c.474C>T (p.Gly158=)
NM_001379200.1(TBX1):c.483C>G (p.Pro161=)
NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)
NM_001379200.1(TBX1):c.513C>T (p.Phe171=) rs764371266
NM_001379200.1(TBX1):c.519G>T (p.Pro173=)
NM_001379200.1(TBX1):c.51C>T (p.Cys17=) rs2145827460
NM_001379200.1(TBX1):c.539+14dup
NM_001379200.1(TBX1):c.539+16dup
NM_001379200.1(TBX1):c.539+7G>C rs780062926
NM_001379200.1(TBX1):c.539+8A>T
NM_001379200.1(TBX1):c.539+8_539+10dup rs2145832489
NM_001379200.1(TBX1):c.540-12G>C
NM_001379200.1(TBX1):c.540-18C>T
NM_001379200.1(TBX1):c.546C>T (p.Ala182=) rs1035684349
NM_001379200.1(TBX1):c.573G>C (p.Ala191=)
NM_001379200.1(TBX1):c.591C>T (p.Ala197=) rs1601289330
NM_001379200.1(TBX1):c.603C>T (p.Arg201=) rs761495882
NM_001379200.1(TBX1):c.606G>A (p.Val202=)
NM_001379200.1(TBX1):c.612C>T (p.Tyr204=)
NM_001379200.1(TBX1):c.615C>T (p.His205=)
NM_001379200.1(TBX1):c.627T>C (p.Pro209=)
NM_001379200.1(TBX1):c.639G>A (p.Ala213=)
NM_001379200.1(TBX1):c.639G>T (p.Ala213=) rs778071107
NM_001379200.1(TBX1):c.654A>G (p.Gln218=) rs2145834016
NM_001379200.1(TBX1):c.657C>A (p.Ile219=)
NM_001379200.1(TBX1):c.660G>A (p.Val220=)
NM_001379200.1(TBX1):c.679C>T (p.Leu227=)
NM_001379200.1(TBX1):c.684C>A (p.Thr228=)
NM_001379200.1(TBX1):c.702C>T (p.Asp234=) rs2145834112
NM_001379200.1(TBX1):c.708C>G (p.Gly236=)
NM_001379200.1(TBX1):c.711+13C>T
NM_001379200.1(TBX1):c.711+16C>T
NM_001379200.1(TBX1):c.712-12C>T
NM_001379200.1(TBX1):c.712-4C>G
NM_001379200.1(TBX1):c.754G>A (p.Val252Met)
NM_001379200.1(TBX1):c.762T>C (p.Tyr254=)
NM_001379200.1(TBX1):c.795C>T (p.Ala265=)
NM_001379200.1(TBX1):c.813C>T (p.Thr271=) rs989667101
NM_001379200.1(TBX1):c.840C>G (p.Thr280=)
NM_001379200.1(TBX1):c.843G>A (p.Ala281=)
NM_001379200.1(TBX1):c.867+12_867+24del
NM_001379200.1(TBX1):c.867+18G>A
NM_001379200.1(TBX1):c.868-16A>T
NM_001379200.1(TBX1):c.868-19CA[3]
NM_001379200.1(TBX1):c.868-20T>G rs2145836392
NM_001379200.1(TBX1):c.868-4G>A
NM_001379200.1(TBX1):c.868-6C>T
NM_001379200.1(TBX1):c.868-7C>T
NM_001379200.1(TBX1):c.870C>A (p.Ile290=)
NM_001379200.1(TBX1):c.876G>A (p.Gln292=)
NM_001379200.1(TBX1):c.897C>T (p.Pro299=)
NM_001379200.1(TBX1):c.909C>T (p.Gly303=)
NM_001379200.1(TBX1):c.930G>A (p.Glu310=) rs1185050794
NM_001379200.1(TBX1):c.935+14C>T
NM_001379200.1(TBX1):c.935+15C>T
NM_001379200.1(TBX1):c.935+17G>A
NM_001379200.1(TBX1):c.935+17del
NM_001379200.1(TBX1):c.935+19G>C
NM_001379200.1(TBX1):c.936-15G>A
NM_001379200.1(TBX1):c.936-15G>C
NM_001379200.1(TBX1):c.936-16C>A
NM_001379200.1(TBX1):c.936-4G>C
NM_001379200.1(TBX1):c.936-6C>T
NM_001379200.1(TBX1):c.936-8G>A rs753380966
NM_001379200.1(TBX1):c.936-9C>G
NM_001379200.1(TBX1):c.936-9C>T
NM_001379200.1(TBX1):c.942G>T (p.Arg314=)
NM_001379200.1(TBX1):c.966G>A (p.Pro322=)
NM_001379200.1(TBX1):c.990G>A (p.Ser330=)
NM_002397.5(MEF2C):c.1002T>C (p.Ser334=) rs2152208828
NM_002397.5(MEF2C):c.1005G>T (p.Gly335=)
NM_002397.5(MEF2C):c.1011C>T (p.Asn337=)
NM_002397.5(MEF2C):c.1017C>T (p.Ala339=) rs1581323265
NM_002397.5(MEF2C):c.1030C>T (p.Leu344Phe) rs980341351
NM_002397.5(MEF2C):c.1038A>T (p.Ser346=)
NM_002397.5(MEF2C):c.1056G>A (p.Gln352=)
NM_002397.5(MEF2C):c.105G>A (p.Leu35=)
NM_002397.5(MEF2C):c.108C>T (p.Ser36=) rs143129901
NM_002397.5(MEF2C):c.1100+17T>C
NM_002397.5(MEF2C):c.1100+18T>C
NM_002397.5(MEF2C):c.1101-20G>A
NM_002397.5(MEF2C):c.1119T>C (p.His373=) rs2152046393
NM_002397.5(MEF2C):c.1203T>C (p.Arg401=) rs34381004
NM_002397.5(MEF2C):c.1218G>T (p.Ser406=) rs759655835
NM_002397.5(MEF2C):c.1233C>T (p.His411=)
NM_002397.5(MEF2C):c.1236G>A (p.Thr412=)
NM_002397.5(MEF2C):c.1239C>A (p.Arg413=)
NM_002397.5(MEF2C):c.1299G>A (p.Gly433=) rs771241026
NM_002397.5(MEF2C):c.1302C>T (p.Ser434=)
NM_002397.5(MEF2C):c.1341T>C (p.Ile447=)
NM_002397.5(MEF2C):c.1353A>G (p.Arg451=)
NM_002397.5(MEF2C):c.1354C>A (p.Pro452Thr)
NM_002397.5(MEF2C):c.1359G>T (p.Ser453=) rs1224709005
NM_002397.5(MEF2C):c.1377T>C (p.Ser459=) rs2152041593
NM_002397.5(MEF2C):c.1383A>T (p.Ser461=) rs2152041410
NM_002397.5(MEF2C):c.1396C>A (p.Arg466=)
NM_002397.5(MEF2C):c.1398A>G (p.Arg466=) rs2152041098
NM_002397.5(MEF2C):c.1401T>G (p.Leu467=) rs1291920482
NM_002397.5(MEF2C):c.168G>A (p.Gln56=)
NM_002397.5(MEF2C):c.194T>C (p.Val65Ala) rs1580988074
NM_002397.5(MEF2C):c.195G>T (p.Val65=) rs1186763422
NM_002397.5(MEF2C):c.204G>A (p.Lys68=) rs1580987960
NM_002397.5(MEF2C):c.225G>T (p.Pro75=) rs779924552
NM_002397.5(MEF2C):c.235C>A (p.Arg79=) rs1021588454
NM_002397.5(MEF2C):c.243C>T (p.Asn81=)
NM_002397.5(MEF2C):c.249C>T (p.Asp83=)
NM_002397.5(MEF2C):c.258+13_258+14delinsAT rs2153073599
NM_002397.5(MEF2C):c.259-16A>T
NM_002397.5(MEF2C):c.259-17C>T
NM_002397.5(MEF2C):c.259-19T>C
NM_002397.5(MEF2C):c.303C>G (p.Pro101=)
NM_002397.5(MEF2C):c.306T>C (p.Asp102=)
NM_002397.5(MEF2C):c.30G>A (p.Arg10=) rs2153222913
NM_002397.5(MEF2C):c.318C>T (p.Ser106=) rs760986750
NM_002397.5(MEF2C):c.352A>C (p.Arg118=)
NM_002397.5(MEF2C):c.402+19del
NM_002397.5(MEF2C):c.402+8C>T rs1777690728
NM_002397.5(MEF2C):c.402+9T>G rs2152672913
NM_002397.5(MEF2C):c.403-14T>G
NM_002397.5(MEF2C):c.403-8T>A rs1581754208
NM_002397.5(MEF2C):c.456C>T (p.His152=) rs1554112204
NM_002397.5(MEF2C):c.463T>C (p.Leu155=) rs927377195
NM_002397.5(MEF2C):c.471C>T (p.Tyr157=)
NM_002397.5(MEF2C):c.490C>T (p.Leu164=) rs1390261667
NM_002397.5(MEF2C):c.514C>T (p.Leu172=) rs1772969049
NM_002397.5(MEF2C):c.51A>G (p.Arg17=)
NM_002397.5(MEF2C):c.522C>T (p.His174=)
NM_002397.5(MEF2C):c.534G>A (p.Gln178=)
NM_002397.5(MEF2C):c.54+11T>C
NM_002397.5(MEF2C):c.54+12A>C
NM_002397.5(MEF2C):c.54+13A>G
NM_002397.5(MEF2C):c.54+8G>T rs2153222799
NM_002397.5(MEF2C):c.55-14T>C
NM_002397.5(MEF2C):c.566G>A (p.Arg189Gln)
NM_002397.5(MEF2C):c.589+16G>T
NM_002397.5(MEF2C):c.590-15C>G
NM_002397.5(MEF2C):c.590-4A>G
NM_002397.5(MEF2C):c.595C>T (p.Leu199=) rs1472815211
NM_002397.5(MEF2C):c.611T>G (p.Leu204Arg) rs2152497517
NM_002397.5(MEF2C):c.612C>G (p.Leu204=) rs1771367792
NM_002397.5(MEF2C):c.637+9A>G rs1581701842
NM_002397.5(MEF2C):c.638-11T>C
NM_002397.5(MEF2C):c.638-14T>C
NM_002397.5(MEF2C):c.638-15G>A
NM_002397.5(MEF2C):c.638-7T>C
NM_002397.5(MEF2C):c.645G>A (p.Gly215=) rs1406989584
NM_002397.5(MEF2C):c.651C>A (p.Gly217=) rs929360766
NM_002397.5(MEF2C):c.657C>T (p.Pro219=) rs1477294607
NM_002397.5(MEF2C):c.66A>G (p.Thr22=) rs2153075042
NM_002397.5(MEF2C):c.690T>C (p.Gly230=) rs1168200349
NM_002397.5(MEF2C):c.699C>T (p.Asn233=) rs2152280530
NM_002397.5(MEF2C):c.729A>G (p.Pro243=)
NM_002397.5(MEF2C):c.72G>A (p.Arg24=) rs1057522729
NM_002397.5(MEF2C):c.750C>T (p.Asn250=)
NM_002397.5(MEF2C):c.768A>G (p.Arg256=) rs2152279899
NM_002397.5(MEF2C):c.773T>A (p.Leu258His) rs1268731100
NM_002397.5(MEF2C):c.810+13T>G
NM_002397.5(MEF2C):c.811-14C>T
NM_002397.5(MEF2C):c.811-17C>T
NM_002397.5(MEF2C):c.834+13A>G
NM_002397.5(MEF2C):c.835-10_835-7del rs1291357632
NM_002397.5(MEF2C):c.835-20C>A
NM_002397.5(MEF2C):c.855C>T (p.Ser285=)
NM_002397.5(MEF2C):c.864T>C (p.Ala288=) rs2152224964
NM_002397.5(MEF2C):c.891C>T (p.Ser297=) rs755665375
NM_002397.5(MEF2C):c.900T>A (p.Thr300=)
NM_002397.5(MEF2C):c.965-10T>G
NM_002397.5(MEF2C):c.965-15T>C rs2152209795
NM_002397.5(MEF2C):c.965-19_965-17del
NM_002397.5(MEF2C):c.965-6A>C rs2152209415
NM_002397.5(MEF2C):c.988C>T (p.Leu330=)
NM_002397.5(MEF2C):c.990G>T (p.Leu330=)
NM_002397.5(MEF2C):c.99T>C (p.Tyr33=)
NM_014679.5(CEP57):c.1011T>G (p.Ser337=)
NM_014679.5(CEP57):c.1020T>C (p.Gly340=) rs1420610366
NM_014679.5(CEP57):c.1065T>C (p.Gly355=) rs1555053912
NM_014679.5(CEP57):c.1099T>C (p.Leu367=) rs759922227
NM_014679.5(CEP57):c.1104G>A (p.Gln368=) rs1590958462
NM_014679.5(CEP57):c.1127+11_1127+14del rs1862827042
NM_014679.5(CEP57):c.1128-16_1128-14del
NM_014679.5(CEP57):c.1128-17T>A
NM_014679.5(CEP57):c.1128-19A>G
NM_014679.5(CEP57):c.1128-4A>C rs1862886218
NM_014679.5(CEP57):c.1128-4A>G rs1862886218
NM_014679.5(CEP57):c.1137G>A (p.Gln379=) rs2135378484
NM_014679.5(CEP57):c.1170C>T (p.Thr390=) rs1262812878
NM_014679.5(CEP57):c.1179G>T (p.Leu393=)
NM_014679.5(CEP57):c.1201T>C (p.Leu401=)
NM_014679.5(CEP57):c.1206G>A (p.Glu402=)
NM_014679.5(CEP57):c.1209A>C (p.Ala403=) rs2135378884
NM_014679.5(CEP57):c.1236C>G (p.Ala412=)
NM_014679.5(CEP57):c.1272+10T>C rs2135379159
NM_014679.5(CEP57):c.1272+12_1272+13del
NM_014679.5(CEP57):c.1272+13T>G
NM_014679.5(CEP57):c.1323A>G (p.Lys441=)
NM_014679.5(CEP57):c.1329T>G (p.Thr443=) rs2135384084
NM_014679.5(CEP57):c.132T>C (p.Pro44=)
NM_014679.5(CEP57):c.1335T>C (p.Asp445=)
NM_014679.5(CEP57):c.1344A>G (p.Arg448=) rs2135384164
NM_014679.5(CEP57):c.1347C>T (p.Asn449=)
NM_014679.5(CEP57):c.138T>G (p.Leu46=) rs2135259669
NM_014679.5(CEP57):c.1392T>C (p.Asp464=) rs2135384405
NM_014679.5(CEP57):c.1404G>C (p.Leu468=) rs2135384476
NM_014679.5(CEP57):c.144T>C (p.Ser48=) rs952135399
NM_014679.5(CEP57):c.1455A>G (p.Gln485=)
NM_014679.5(CEP57):c.148C>T (p.Leu50=)
NM_014679.5(CEP57):c.1491T>C (p.Cys497=)
NM_014679.5(CEP57):c.15T>G (p.Ser5=) rs1860990343
NM_014679.5(CEP57):c.18C>G (p.Val6=)
NM_014679.5(CEP57):c.202+16G>A
NM_014679.5(CEP57):c.202+17A>C
NM_014679.5(CEP57):c.203-15G>A
NM_014679.5(CEP57):c.21T>C (p.Ser7=)
NM_014679.5(CEP57):c.247T>C (p.Leu83=)
NM_014679.5(CEP57):c.249G>A (p.Leu83=)
NM_014679.5(CEP57):c.33T>G (p.Gly11=)
NM_014679.5(CEP57):c.382+10_382+12del rs750802143
NM_014679.5(CEP57):c.382+14G>T
NM_014679.5(CEP57):c.382+9del
NM_014679.5(CEP57):c.383-10T>C
NM_014679.5(CEP57):c.383-15A>G
NM_014679.5(CEP57):c.417A>G (p.Lys139=) rs1248749562
NM_014679.5(CEP57):c.42G>A (p.Leu14=)
NM_014679.5(CEP57):c.438A>G (p.Gln146=)
NM_014679.5(CEP57):c.45+16C>T rs374203661
NM_014679.5(CEP57):c.45+17G>A
NM_014679.5(CEP57):c.45+17G>C
NM_014679.5(CEP57):c.451C>A (p.Arg151=) rs771182933
NM_014679.5(CEP57):c.46-10dup
NM_014679.5(CEP57):c.46-11T>C rs1298510341
NM_014679.5(CEP57):c.46-9A>C rs780066541
NM_014679.5(CEP57):c.504+19A>C rs777827395
NM_014679.5(CEP57):c.516A>G (p.Glu172=) rs772095352
NM_014679.5(CEP57):c.552C>T (p.Ser184=) rs765801435
NM_014679.5(CEP57):c.555A>G (p.Gln185=) rs773682444
NM_014679.5(CEP57):c.57T>A (p.Ala19=)
NM_014679.5(CEP57):c.622-12T>C
NM_014679.5(CEP57):c.63A>G (p.Pro21=) rs1861471358
NM_014679.5(CEP57):c.645A>G (p.Ala215=) rs2135342060
NM_014679.5(CEP57):c.654T>C (p.His218=)
NM_014679.5(CEP57):c.657A>G (p.Glu219=) rs142615007
NM_014679.5(CEP57):c.65C>T (p.Ser22Leu) rs554897859
NM_014679.5(CEP57):c.666G>A (p.Gln222=)
NM_014679.5(CEP57):c.699+7T>C
NM_014679.5(CEP57):c.700-19A>C
NM_014679.5(CEP57):c.700-4C>T rs2135351739
NM_014679.5(CEP57):c.711T>A (p.Gly237=) rs2135351805
NM_014679.5(CEP57):c.723T>C (p.Asn241=) rs76411609
NM_014679.5(CEP57):c.729T>C (p.Leu243=)
NM_014679.5(CEP57):c.753G>C (p.Pro251=) rs11742
NM_014679.5(CEP57):c.75T>C (p.Asn25=) rs770013483
NM_014679.5(CEP57):c.772A>C (p.Arg258=)
NM_014679.5(CEP57):c.798A>T (p.Pro266=)
NM_014679.5(CEP57):c.807+16C>A
NM_014679.5(CEP57):c.886-7C>T
NM_014679.5(CEP57):c.88C>A (p.Arg30=) rs749693319
NM_014679.5(CEP57):c.909G>A (p.Val303=) rs1862809034
NM_014679.5(CEP57):c.90G>C (p.Arg30=) rs560835162
NM_014679.5(CEP57):c.915C>G (p.Ala305=)
NM_014679.5(CEP57):c.915C>T (p.Ala305=)
NM_014679.5(CEP57):c.918T>C (p.Asn306=) rs984460249
NM_022455.5(NSD1):c.1064-10C>T rs1057523596
NM_022455.5(NSD1):c.1064-6A>T
NM_022455.5(NSD1):c.1064-9C>T
NM_022455.5(NSD1):c.1236+17G>A rs886038671
NM_022455.5(NSD1):c.1236+9C>T
NM_022455.5(NSD1):c.1338A>T (p.Ser446=) rs2149842674
NM_022455.5(NSD1):c.1395G>A (p.Glu465=)
NM_022455.5(NSD1):c.1407C>A (p.Asp469Glu)
NM_022455.5(NSD1):c.1410G>A (p.Leu470=)
NM_022455.5(NSD1):c.141T>C (p.Thr47=)
NM_022455.5(NSD1):c.1483G>A (p.Ala495Thr) rs752490855
NM_022455.5(NSD1):c.151T>C (p.Ser51Pro)
NM_022455.5(NSD1):c.1634C>T (p.Thr545Met)
NM_022455.5(NSD1):c.1783G>A (p.Glu595Lys)
NM_022455.5(NSD1):c.1800A>C (p.Ser600=) rs2149843727
NM_022455.5(NSD1):c.1811G>A (p.Arg604Gln) rs61744451
NM_022455.5(NSD1):c.1813G>C (p.Glu605Gln) rs971996804
NM_022455.5(NSD1):c.1874G>A (p.Gly625Glu)
NM_022455.5(NSD1):c.1925C>T (p.Ser642Phe)
NM_022455.5(NSD1):c.2026T>C (p.Leu676=)
NM_022455.5(NSD1):c.2073C>T (p.Ala691=) rs1054023528
NM_022455.5(NSD1):c.2091A>G (p.Lys697=)
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
NM_022455.5(NSD1):c.2175G>A (p.Thr725=)
NM_022455.5(NSD1):c.2175_2176inv (p.Ser726Pro)
NM_022455.5(NSD1):c.2241A>G (p.Thr747=)
NM_022455.5(NSD1):c.2249C>T (p.Ala750Val)
NM_022455.5(NSD1):c.2250T>A (p.Ala750=)
NM_022455.5(NSD1):c.2376C>T (p.Cys792=) rs368839996
NM_022455.5(NSD1):c.2401G>A (p.Ala801Thr)
NM_022455.5(NSD1):c.2417T>C (p.Ile806Thr)
NM_022455.5(NSD1):c.252A>G (p.Val84=)
NM_022455.5(NSD1):c.2565A>G (p.Ala855=)
NM_022455.5(NSD1):c.2652A>G (p.Pro884=) rs1060504243
NM_022455.5(NSD1):c.2669T>A (p.Phe890Tyr)
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp) rs886038674
NM_022455.5(NSD1):c.2805T>C (p.Ser935=)
NM_022455.5(NSD1):c.2853A>C (p.Gly951=)
NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr)
NM_022455.5(NSD1):c.2930A>G (p.Asn977Ser)
NM_022455.5(NSD1):c.2970G>T (p.Glu990Asp)
NM_022455.5(NSD1):c.2976T>A (p.Ser992=)
NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)
NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)
NM_022455.5(NSD1):c.3155G>A (p.Arg1052His)
NM_022455.5(NSD1):c.3226G>A (p.Gly1076Ser)
NM_022455.5(NSD1):c.3321T>C (p.Asp1107=)
NM_022455.5(NSD1):c.3348A>G (p.Gln1116=)
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe) rs559441081
NM_022455.5(NSD1):c.3409C>T (p.Leu1137=)
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys)
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met) rs1425698482
NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=) rs794727734
NM_022455.5(NSD1):c.3771A>G (p.Thr1257=)
NM_022455.5(NSD1):c.3819C>T (p.Arg1273=)
NM_022455.5(NSD1):c.3921+18A>G
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) rs750684515
NM_022455.5(NSD1):c.3966A>C (p.Arg1322=)
NM_022455.5(NSD1):c.405C>T (p.Ser135=)
NM_022455.5(NSD1):c.4107G>A (p.Pro1369=)
NM_022455.5(NSD1):c.4193-17A>G
NM_022455.5(NSD1):c.4193-8C>T
NM_022455.5(NSD1):c.4257C>A (p.Asp1419Glu)
NM_022455.5(NSD1):c.4303-8A>G
NM_022455.5(NSD1):c.4308T>C (p.Tyr1436=)
NM_022455.5(NSD1):c.4378+15_4378+16del rs2149894868
NM_022455.5(NSD1):c.4458G>A (p.Val1486=)
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) rs150920473
NM_022455.5(NSD1):c.451C>T (p.Leu151=)
NM_022455.5(NSD1):c.4563C>T (p.His1521=)
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4722T>G (p.Thr1574=) rs1279409189
NM_022455.5(NSD1):c.4765+18C>T rs751340849
NM_022455.5(NSD1):c.4765+19G>A
NM_022455.5(NSD1):c.4766-7T>C rs2149912243
NM_022455.5(NSD1):c.4766-9G>T rs747358179
NM_022455.5(NSD1):c.4818C>T (p.Cys1606=)
NM_022455.5(NSD1):c.4860C>T (p.Val1620=) rs1756523594
NM_022455.5(NSD1):c.487G>A (p.Asp163Asn)
NM_022455.5(NSD1):c.4959A>G (p.Ala1653=)
NM_022455.5(NSD1):c.4966+7A>G rs2149912804
NM_022455.5(NSD1):c.4967-12T>A
NM_022455.5(NSD1):c.4995T>C (p.Pro1665=)
NM_022455.5(NSD1):c.5147-12T>G
NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys)
NM_022455.5(NSD1):c.5235C>T (p.Cys1745=)
NM_022455.5(NSD1):c.5269A>C (p.Arg1757=) rs1280607631
NM_022455.5(NSD1):c.530A>G (p.Asp177Gly) rs538618950
NM_022455.5(NSD1):c.5382C>T (p.Phe1794=) rs878855076
NM_022455.5(NSD1):c.549C>T (p.Ile183=) rs758535770
NM_022455.5(NSD1):c.5502T>C (p.Tyr1834=)
NM_022455.5(NSD1):c.560C>G (p.Thr187Ser)
NM_022455.5(NSD1):c.567C>T (p.Thr189=) rs769162062
NM_022455.5(NSD1):c.5682T>C (p.Arg1894=)
NM_022455.5(NSD1):c.5769A>C (p.Thr1923=) rs1448380303
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=)
NM_022455.5(NSD1):c.6075C>T (p.Pro2025=)
NM_022455.5(NSD1):c.6087A>T (p.Thr2029=)
NM_022455.5(NSD1):c.6151+10A>T
NM_022455.5(NSD1):c.6151+18A>T
NM_022455.5(NSD1):c.6259-4G>T rs764710462
NM_022455.5(NSD1):c.6432A>G (p.Ala2144=) rs757619678
NM_022455.5(NSD1):c.6464-13T>C
NM_022455.5(NSD1):c.6606T>C (p.Cys2202=)
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) rs755013078
NM_022455.5(NSD1):c.6681G>A (p.Pro2227=)
NM_022455.5(NSD1):c.672G>A (p.Ser224=) rs1320622588
NM_022455.5(NSD1):c.6804T>G (p.Ala2268=)
NM_022455.5(NSD1):c.6829T>A (p.Leu2277Met) rs28580074
NM_022455.5(NSD1):c.6898G>A (p.Ala2300Thr)
NM_022455.5(NSD1):c.7041C>G (p.Ser2347=)
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser)
NM_022455.5(NSD1):c.7122A>T (p.Ser2374=)
NM_022455.5(NSD1):c.717G>A (p.Lys239=)
NM_022455.5(NSD1):c.7182T>C (p.Ile2394=) rs1760115755
NM_022455.5(NSD1):c.7218T>C (p.Pro2406=)
NM_022455.5(NSD1):c.7329C>T (p.Asp2443=)
NM_022455.5(NSD1):c.7356T>C (p.Ala2452=)
NM_022455.5(NSD1):c.7398G>A (p.Lys2466=) rs2127282700
NM_022455.5(NSD1):c.7401G>A (p.Glu2467=)
NM_022455.5(NSD1):c.7410T>C (p.Ala2470=)
NM_022455.5(NSD1):c.757C>G (p.Leu253Val)
NM_022455.5(NSD1):c.7596A>G (p.Ser2532=) rs2127283671
NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu)
NM_022455.5(NSD1):c.7752C>T (p.Val2584=) rs1175003950
NM_022455.5(NSD1):c.7799T>C (p.Phe2600Ser)
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=) rs769301382
NM_022455.5(NSD1):c.7810G>A (p.Gly2604Arg)
NM_022455.5(NSD1):c.793A>G (p.Ile265Val) rs771587260
NM_022455.5(NSD1):c.7942_7980del (p.Ser2648_Gln2660del) rs762472610
NM_022455.5(NSD1):c.7995T>C (p.Leu2665=)
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg) rs1189702665
NM_022455.5(NSD1):c.897A>T (p.Ser299=)
NM_022455.5(NSD1):c.91C>G (p.Pro31Ala) rs905320202
NM_022455.5(NSD1):c.928-8G>C rs1761722744
NM_022455.5(NSD1):c.951G>A (p.Thr317=)
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)
NM_024426.6(WT1):c.1002A>T (p.Thr334=) rs1590373446
NM_024426.6(WT1):c.1011G>A (p.Gln337=) rs1590373398
NM_024426.6(WT1):c.1016+12A>G rs2133032183
NM_024426.6(WT1):c.1016+13T>C rs1425896469
NM_024426.6(WT1):c.1016+14_1016+15delinsAA
NM_024426.6(WT1):c.1016+15C>A
NM_024426.6(WT1):c.1016+16G>A
NM_024426.6(WT1):c.1016+20A>G
NM_024426.6(WT1):c.1016+7G>A
NM_024426.6(WT1):c.1016+8G>A
NM_024426.6(WT1):c.1016+8dup
NM_024426.6(WT1):c.1017-10G>T rs2132959474
NM_024426.6(WT1):c.1017-11T>C rs1564975924
NM_024426.6(WT1):c.1017-18C>G
NM_024426.6(WT1):c.1017-19C>A
NM_024426.6(WT1):c.1017-20T>C
NM_024426.6(WT1):c.1017-8G>C
NM_024426.6(WT1):c.1029G>T (p.Gly343=) rs752102247
NM_024426.6(WT1):c.1032C>T (p.Tyr344=) rs1338914258
NM_024426.6(WT1):c.1041T>C (p.Asp347=) rs1159089816
NM_024426.6(WT1):c.1044C>T (p.Asn348=)
NM_024426.6(WT1):c.1053G>C (p.Thr351=) rs1260693060
NM_024426.6(WT1):c.1056C>T (p.Pro352=) rs2132958298
NM_024426.6(WT1):c.1068A>G (p.Gly356=)
NM_024426.6(WT1):c.1071C>G (p.Ala357=)
NM_024426.6(WT1):c.1089G>A (p.Thr363=) rs1564975679
NM_024426.6(WT1):c.1089G>T (p.Thr363=) rs1564975679
NM_024426.6(WT1):c.108G>A (p.Gln36=) rs2133107241
NM_024426.6(WT1):c.1092C>T (p.His364=) rs587778756
NM_024426.6(WT1):c.1113+10C>T
NM_024426.6(WT1):c.1113+13_1113+16del rs781613684
NM_024426.6(WT1):c.1113+14C>T
NM_024426.6(WT1):c.1113+7A>G
NM_024426.6(WT1):c.1113+8C>T rs2132956703
NM_024426.6(WT1):c.1113+9A>C
NM_024426.6(WT1):c.1113+9A>G
NM_024426.6(WT1):c.1114-13T>C rs2132942587
NM_024426.6(WT1):c.1114-14C>T
NM_024426.6(WT1):c.1114-14CT[2] rs994248697
NM_024426.6(WT1):c.1114-15A>C
NM_024426.6(WT1):c.1114-15A>G rs776971636
NM_024426.6(WT1):c.1114-4G>A rs2132942410
NM_024426.6(WT1):c.1114-6C>T rs2132942429
NM_024426.6(WT1):c.1114-7C>G
NM_024426.6(WT1):c.1119G>A (p.Val373=) rs780497248
NM_024426.6(WT1):c.111A>G (p.Gly37=)
NM_024426.6(WT1):c.1134A>G (p.Gly378=) rs965752073
NM_024426.6(WT1):c.1143G>A (p.Pro381=) rs1554939849
NM_024426.6(WT1):c.1146T>C (p.Thr382=) rs371168589
NM_024426.6(WT1):c.114C>G (p.Val38=)
NM_024426.6(WT1):c.1152A>G (p.Val384=) rs2132941316
NM_024426.6(WT1):c.1155G>A (p.Arg385=) rs776651253
NM_024426.6(WT1):c.1161A>T (p.Ala387=) rs141834493
NM_024426.6(WT1):c.1164T>C (p.Ser388=)
NM_024426.6(WT1):c.117G>T (p.Arg39=)
NM_024426.6(WT1):c.1182C>G (p.Arg394=) rs147939483
NM_024426.6(WT1):c.1188C>T (p.Phe396=) rs200539928
NM_024426.6(WT1):c.1200C>T (p.Tyr400=) rs886048227
NM_024426.6(WT1):c.1206C>G (p.Gly402=) rs2132940083
NM_024426.6(WT1):c.1215G>A (p.Lys405=) rs2132939936
NM_024426.6(WT1):c.1224T>C (p.Phe408=)
NM_024426.6(WT1):c.1227G>A (p.Lys409=) rs1554939791
NM_024426.6(WT1):c.1230G>A (p.Leu410=) rs1851967232
NM_024426.6(WT1):c.1233C>A (p.Ser411=)
NM_024426.6(WT1):c.1233C>G (p.Ser411=)
NM_024426.6(WT1):c.123G>A (p.Pro41=) rs555140661
NM_024426.6(WT1):c.1260C>T (p.His420=) rs1554939784
NM_024426.6(WT1):c.1264+15T>C
NM_024426.6(WT1):c.1264+16G>C
NM_024426.6(WT1):c.1264+20A>T rs1227250951
NM_024426.6(WT1):c.1264+9G>A rs2132938978
NM_024426.6(WT1):c.1265-10C>G
NM_024426.6(WT1):c.1265-12G>C rs2132921730
NM_024426.6(WT1):c.1265-15T>C rs933629326
NM_024426.6(WT1):c.1265-16_1265-15del rs1447574915
NM_024426.6(WT1):c.1265-4C>T rs918343735
NM_024426.6(WT1):c.1265-6C>T rs1590332639
NM_024426.6(WT1):c.126C>A (p.Gly42=)
NM_024426.6(WT1):c.126C>T (p.Gly42=) rs1853476071
NM_024426.6(WT1):c.1275A>G (p.Pro425=) rs2132921460
NM_024426.6(WT1):c.1287C>T (p.Asp429=)
NM_024426.6(WT1):c.1293G>A (p.Lys431=)
NM_024426.6(WT1):c.1305A>G (p.Arg435=)
NM_024426.6(WT1):c.1306A>C (p.Arg436=)
NM_024426.6(WT1):c.1320A>G (p.Ser440=)
NM_024426.6(WT1):c.1329C>A (p.Leu443=)
NM_024426.6(WT1):c.1332A>G (p.Lys444=) rs1319380075
NM_024426.6(WT1):c.1341A>G (p.Gln447=) rs772822466
NM_024426.6(WT1):c.1344G>A (p.Arg448=) rs1236598690
NM_024426.6(WT1):c.1345A>C (p.Arg449=) rs2132919527
NM_024426.6(WT1):c.1350T>C (p.His450=)
NM_024426.6(WT1):c.1354+10T>C rs2132919152
NM_024426.6(WT1):c.1354+12C>T
NM_024426.6(WT1):c.1354+14C>T
NM_024426.6(WT1):c.1354+15T>G rs747790701
NM_024426.6(WT1):c.1354+19C>T rs2132918999
NM_024426.6(WT1):c.1354+20A>G
NM_024426.6(WT1):c.1354+9G>A rs765187288
NM_024426.6(WT1):c.1355-10G>A
NM_024426.6(WT1):c.1355-10G>C rs1590331597
NM_024426.6(WT1):c.1355-19A>T
NM_024426.6(WT1):c.1355-24_1355-20del
NM_024426.6(WT1):c.1355-6_1355-5del
NM_024426.6(WT1):c.1355-8C>T rs1851834598
NM_024426.6(WT1):c.1389A>G (p.Arg463=) rs1851833175
NM_024426.6(WT1):c.1389A>T (p.Arg463=)
NM_024426.6(WT1):c.138C>A (p.Ala46=) rs2133106888
NM_024426.6(WT1):c.1395C>T (p.Phe465=) rs1430665640
NM_024426.6(WT1):c.1398C>G (p.Ser466=) rs2132914513
NM_024426.6(WT1):c.1401G>A (p.Arg467=) rs2132914457
NM_024426.6(WT1):c.1407C>T (p.Asp469=)
NM_024426.6(WT1):c.1411C>T (p.Leu471=) rs1851831198
NM_024426.6(WT1):c.1422C>T (p.His474=) rs1554939066
NM_024426.6(WT1):c.1425C>G (p.Thr475=) rs2132913876
NM_024426.6(WT1):c.1425C>T (p.Thr475=)
NM_024426.6(WT1):c.1426A>C (p.Arg476=) rs2132913863
NM_024426.6(WT1):c.1428G>A (p.Arg476=)
NM_024426.6(WT1):c.1447+13T>C rs2132913405
NM_024426.6(WT1):c.1447+15C>T
NM_024426.6(WT1):c.1447+16_1447+18del rs1235706040
NM_024426.6(WT1):c.1447+19A>G rs2132913356
NM_024426.6(WT1):c.1447+7A>G rs2132913455
NM_024426.6(WT1):c.1448-10G>T rs185744719
NM_024426.6(WT1):c.1448-13A>G
NM_024426.6(WT1):c.1448-13A>T rs768449767
NM_024426.6(WT1):c.1448-18T>C
NM_024426.6(WT1):c.1448-18T>G
NM_024426.6(WT1):c.1448-19C>A
NM_024426.6(WT1):c.1448-9T>C rs1590326385
NM_024426.6(WT1):c.1449T>C (p.Ser483=) rs2132900047
NM_024426.6(WT1):c.1458C>T (p.Pro486=)
NM_024426.6(WT1):c.1464C>T (p.Ser488=) rs1590326329
NM_024426.6(WT1):c.1467T>C (p.Cys489=) rs2132899651
NM_024426.6(WT1):c.1476A>G (p.Pro492=) rs2132899419
NM_024426.6(WT1):c.1479T>C (p.Ser493=) rs1334930117
NM_024426.6(WT1):c.147C>A (p.Gly49=) rs2133106795
NM_024426.6(WT1):c.1500G>C (p.Arg500=) rs2132898861
NM_024426.6(WT1):c.150C>A (p.Ala50=) rs1554946724
NM_024426.6(WT1):c.150C>T (p.Ala50=) rs1554946724
NM_024426.6(WT1):c.1518C>G (p.Arg506=)
NM_024426.6(WT1):c.153C>A (p.Ala51=)
NM_024426.6(WT1):c.153C>T (p.Ala51=) rs1590411186
NM_024426.6(WT1):c.1551A>G (p.Lys517=)
NM_024426.6(WT1):c.1557G>A (p.Gln519=) rs2132897298
NM_024426.6(WT1):c.1563G>C (p.Ala521=)
NM_024426.6(WT1):c.1563G>T (p.Ala521=) rs202118284
NM_024426.6(WT1):c.162C>T (p.Ser54=)
NM_024426.6(WT1):c.174C>G (p.Leu58=) rs886048232
NM_024426.6(WT1):c.189C>T (p.Ser63=) rs1215127008
NM_024426.6(WT1):c.198G>A (p.Ala66=) rs955105743
NM_024426.6(WT1):c.201C>T (p.Ser67=) rs771769393
NM_024426.6(WT1):c.204G>A (p.Gly68=) rs1554946680
NM_024426.6(WT1):c.216G>A (p.Gln72=)
NM_024426.6(WT1):c.225C>A (p.Gly75=) rs1590410808
NM_024426.6(WT1):c.225C>G (p.Gly75=) rs1590410808
NM_024426.6(WT1):c.225C>T (p.Gly75=) rs1590410808
NM_024426.6(WT1):c.228C>T (p.Ser76=) rs2133105899
NM_024426.6(WT1):c.231C>T (p.Asp77=) rs1193574882
NM_024426.6(WT1):c.237G>A (p.Arg79=)
NM_024426.6(WT1):c.237G>C (p.Arg79=) rs1590410776
NM_024426.6(WT1):c.241C>T (p.Leu81=) rs777617460
NM_024426.6(WT1):c.249G>A (p.Ala83=) rs1233220797
NM_024426.6(WT1):c.249G>T (p.Ala83=)
NM_024426.6(WT1):c.24C>T (p.Asp8=)
NM_024426.6(WT1):c.250C>T (p.Leu84=) rs756055892
NM_024426.6(WT1):c.258C>A (p.Pro86=) rs1389359790
NM_024426.6(WT1):c.259G>A (p.Ala87Thr) rs752686863
NM_024426.6(WT1):c.261C>A (p.Ala87=)
NM_024426.6(WT1):c.261C>G (p.Ala87=)
NM_024426.6(WT1):c.261C>T (p.Ala87=) rs1298313010
NM_024426.6(WT1):c.267C>T (p.Pro89=) rs1172336462
NM_024426.6(WT1):c.270C>G (p.Ser90=)
NM_024426.6(WT1):c.270C>T (p.Ser90=) rs766441234
NM_024426.6(WT1):c.271C>T (p.Leu91=)
NM_024426.6(WT1):c.279C>A (p.Gly93=) rs1590410564
NM_024426.6(WT1):c.279C>T (p.Gly93=) rs1590410564
NM_024426.6(WT1):c.282C>T (p.Gly94=) rs1565001990
NM_024426.6(WT1):c.291T>C (p.Cys97=) rs750588084
NM_024426.6(WT1):c.294C>T (p.Ala98=) rs887998910
NM_024426.6(WT1):c.303G>A (p.Val101=)
NM_024426.6(WT1):c.312G>A (p.Ala104=) rs1590410376
NM_024426.6(WT1):c.312G>T (p.Ala104=)
NM_024426.6(WT1):c.315G>A (p.Ala105=) rs1554946607
NM_024426.6(WT1):c.315G>T (p.Ala105=) rs1554946607
NM_024426.6(WT1):c.324G>A (p.Ala108=) rs1229643010
NM_024426.6(WT1):c.330G>A (p.Val110=)
NM_024426.6(WT1):c.331C>T (p.Leu111=) rs2133104719
NM_024426.6(WT1):c.336C>T (p.Asp112=) rs2133104640
NM_024426.6(WT1):c.339T>C (p.Phe113=) rs2133104617
NM_024426.6(WT1):c.33C>A (p.Ser11=)
NM_024426.6(WT1):c.342G>C (p.Ala114=) rs1414764839
NM_024426.6(WT1):c.342G>T (p.Ala114=) rs1414764839
NM_024426.6(WT1):c.348G>C (p.Pro116=)
NM_024426.6(WT1):c.351C>A (p.Gly117=)
NM_024426.6(WT1):c.357G>T (p.Ser119=)
NM_024426.6(WT1):c.363C>T (p.Tyr121=) rs977632626
NM_024426.6(WT1):c.366G>T (p.Gly122=)
NM_024426.6(WT1):c.369G>A (p.Ser123=) rs1485992444
NM_024426.6(WT1):c.369G>T (p.Ser123=) rs1485992444
NM_024426.6(WT1):c.36G>A (p.Thr12=)
NM_024426.6(WT1):c.36G>C (p.Thr12=)
NM_024426.6(WT1):c.370T>C (p.Leu124=)
NM_024426.6(WT1):c.381C>A (p.Pro127=) rs771681406
NM_024426.6(WT1):c.381C>T (p.Pro127=) rs771681406
NM_024426.6(WT1):c.384G>A (p.Ala128=)
NM_024426.6(WT1):c.387G>T (p.Pro129=) rs1590410053
NM_024426.6(WT1):c.390A>G (p.Pro130=) rs886048228
NM_024426.6(WT1):c.393G>C (p.Pro131=) rs1229890218
NM_024426.6(WT1):c.393G>T (p.Pro131=) rs1229890218
NM_024426.6(WT1):c.399G>T (p.Pro133=) rs2133103876
NM_024426.6(WT1):c.402G>A (p.Pro134=) rs777527675
NM_024426.6(WT1):c.402G>T (p.Pro134=)
NM_024426.6(WT1):c.408C>A (p.Pro136=)
NM_024426.6(WT1):c.408C>T (p.Pro136=)
NM_024426.6(WT1):c.414G>A (p.Pro138=)
NM_024426.6(WT1):c.417G>T (p.Pro139=) rs758361767
NM_024426.6(WT1):c.420G>T (p.Pro140=)
NM_024426.6(WT1):c.423T>G (p.Pro141=)
NM_024426.6(WT1):c.429C>T (p.Ser143=) rs531076591
NM_024426.6(WT1):c.42C>T (p.Val14=) rs1343194102
NM_024426.6(WT1):c.441G>A (p.Gln147=)
NM_024426.6(WT1):c.447G>A (p.Pro149=)
NM_024426.6(WT1):c.450C>T (p.Ser150=) rs1213710686
NM_024426.6(WT1):c.456C>A (p.Gly152=) rs2133103187
NM_024426.6(WT1):c.456C>T (p.Gly152=) rs2133103187
NM_024426.6(WT1):c.45G>A (p.Pro15=) rs1158182061
NM_024426.6(WT1):c.462G>A (p.Ala154=) rs2133103125
NM_024426.6(WT1):c.465G>A (p.Glu155=) rs1590409614
NM_024426.6(WT1):c.468G>A (p.Pro156=) rs961309280
NM_024426.6(WT1):c.471C>T (p.His157=) rs753238865
NM_024426.6(WT1):c.474G>A (p.Glu158=) rs997224171
NM_024426.6(WT1):c.477G>A (p.Glu159=) rs2133102935
NM_024426.6(WT1):c.483C>T (p.Cys161=)
NM_024426.6(WT1):c.484C>T (p.Leu162=)
NM_024426.6(WT1):c.489C>T (p.Ser163=) rs908414065
NM_024426.6(WT1):c.48G>A (p.Glu16=)
NM_024426.6(WT1):c.498T>C (p.Thr166=) rs1554946487
NM_024426.6(WT1):c.510C>G (p.Ser170=) rs772890986
NM_024426.6(WT1):c.513C>T (p.Gly171=)
NM_024426.6(WT1):c.51G>A (p.Pro17=) rs1590411695
NM_024426.6(WT1):c.51G>C (p.Pro17=) rs1590411695
NM_024426.6(WT1):c.522T>C (p.Thr174=) rs747958111
NM_024426.6(WT1):c.531C>G (p.Ala177=) rs1354094843
NM_024426.6(WT1):c.534A>G (p.Gly178=)
NM_024426.6(WT1):c.546C>T (p.Tyr182=)
NM_024426.6(WT1):c.549G>T (p.Gly183=) rs1199167878
NM_024426.6(WT1):c.555C>T (p.Phe185=) rs1554946465
NM_024426.6(WT1):c.561T>C (p.Pro187=) rs2133102109
NM_024426.6(WT1):c.564T>A (p.Pro188=) rs1060504178
NM_024426.6(WT1):c.567G>A (p.Pro189=)
NM_024426.6(WT1):c.569C>T (p.Pro190Leu) rs757349907
NM_024426.6(WT1):c.570C>T (p.Pro190=)
NM_024426.6(WT1):c.579G>A (p.Ala193=) rs2133101885
NM_024426.6(WT1):c.582A>C (p.Ser194=) rs1302907380
NM_024426.6(WT1):c.582A>T (p.Ser194=) rs1302907380
NM_024426.6(WT1):c.597G>A (p.Arg199=) rs762418497
NM_024426.6(WT1):c.612G>A (p.Ala204=)
NM_024426.6(WT1):c.612G>T (p.Ala204=) rs2133101498
NM_024426.6(WT1):c.618C>T (p.Tyr206=) rs1853434598
NM_024426.6(WT1):c.624C>T (p.Pro208=)
NM_024426.6(WT1):c.630C>T (p.Cys210=) rs1590408912
NM_024426.6(WT1):c.633C>G (p.Leu211=) rs576677344
NM_024426.6(WT1):c.633C>T (p.Leu211=) rs576677344
NM_024426.6(WT1):c.63C>T (p.His21=) rs2133107593
NM_024426.6(WT1):c.645C>A (p.Pro215=)
NM_024426.6(WT1):c.645C>G (p.Pro215=) rs749405227
NM_024426.6(WT1):c.645C>T (p.Pro215=)
NM_024426.6(WT1):c.654C>T (p.Arg218=)
NM_024426.6(WT1):c.661+10C>T rs1853430393
NM_024426.6(WT1):c.661+11C>A
NM_024426.6(WT1):c.661+11del rs778200475
NM_024426.6(WT1):c.661+12G>A
NM_024426.6(WT1):c.661+12G>C
NM_024426.6(WT1):c.661+13G>A rs1405273217
NM_024426.6(WT1):c.661+13G>C rs1405273217
NM_024426.6(WT1):c.661+14G>A
NM_024426.6(WT1):c.661+15G>T rs1362460137
NM_024426.6(WT1):c.661+17G>T
NM_024426.6(WT1):c.661+18C>T rs369162648
NM_024426.6(WT1):c.661+19G>A rs1413587778
NM_024426.6(WT1):c.661+7A>G rs538357126
NM_024426.6(WT1):c.661+9G>A rs755336626
NM_024426.6(WT1):c.661+9G>T rs755336626
NM_024426.6(WT1):c.661+9del
NM_024426.6(WT1):c.662-10G>T rs1554945255
NM_024426.6(WT1):c.662-11C>T
NM_024426.6(WT1):c.662-12C>A rs2133076430
NM_024426.6(WT1):c.662-13G>A
NM_024426.6(WT1):c.662-16T>A
NM_024426.6(WT1):c.662-4G>A rs938242205
NM_024426.6(WT1):c.662-4G>T rs938242205
NM_024426.6(WT1):c.662-7C>T
NM_024426.6(WT1):c.666C>T (p.Tyr222=) rs1590396134
NM_024426.6(WT1):c.66G>T (p.Thr22=) rs1214646426
NM_024426.6(WT1):c.672G>A (p.Thr224=) rs756695525
NM_024426.6(WT1):c.672G>T (p.Thr224=) rs756695525
NM_024426.6(WT1):c.678C>G (p.Thr226=)
NM_024426.6(WT1):c.678C>T (p.Thr226=)
NM_024426.6(WT1):c.690G>A (p.Thr230=) rs1277854204
NM_024426.6(WT1):c.690G>T (p.Thr230=)
NM_024426.6(WT1):c.693C>T (p.Pro231=)
NM_024426.6(WT1):c.699C>T (p.Tyr233=) rs1349302999
NM_024426.6(WT1):c.705C>T (p.His235=)
NM_024426.6(WT1):c.708G>A (p.Thr236=) rs768828897
NM_024426.6(WT1):c.708G>C (p.Thr236=)
NM_024426.6(WT1):c.723G>C (p.Ala241=)
NM_024426.6(WT1):c.726G>T (p.Ala242=) rs1473494675
NM_024426.6(WT1):c.729G>A (p.Gln243=)
NM_024426.6(WT1):c.738C>T (p.Asn246=) rs2133075363
NM_024426.6(WT1):c.744A>G (p.Ser248=) rs2133075308
NM_024426.6(WT1):c.750G>A (p.Lys250=) rs1853143486
NM_024426.6(WT1):c.756G>A (p.Glu252=) rs1406109697
NM_024426.6(WT1):c.75C>G (p.Ser25=) rs1417997475
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993
NM_024426.6(WT1):c.771G>A (p.Gln257=) rs1853140764
NM_024426.6(WT1):c.774G>A (p.Gln258=)
NM_024426.6(WT1):c.777C>A (p.Gly259=) rs1395854761
NM_024426.6(WT1):c.780G>A (p.Ser260=) rs1403311573
NM_024426.6(WT1):c.780G>C (p.Ser260=) rs1403311573
NM_024426.6(WT1):c.783G>A (p.Leu261=) rs2133074898
NM_024426.6(WT1):c.784+10C>A rs1554945172
NM_024426.6(WT1):c.784+13A>G rs2133074798
NM_024426.6(WT1):c.784+15C>G
NM_024426.6(WT1):c.784+15C>T rs1160084869
NM_024426.6(WT1):c.784+20T>C
NM_024426.6(WT1):c.784+7G>C rs1033235205
NM_024426.6(WT1):c.784+7G>T rs1033235205
NM_024426.6(WT1):c.784+7del rs2133074842
NM_024426.6(WT1):c.785-10C>T rs2133073171
NM_024426.6(WT1):c.785-14G>C rs375514482
NM_024426.6(WT1):c.785-14G>T rs375514482
NM_024426.6(WT1):c.785-15C>T
NM_024426.6(WT1):c.785-17T>G
NM_024426.6(WT1):c.785-19T>A
NM_024426.6(WT1):c.785-20G>A
NM_024426.6(WT1):c.785-6C>T rs2133073137
NM_024426.6(WT1):c.785-7T>C rs758280375
NM_024426.6(WT1):c.785-7T>G rs758280375
NM_024426.6(WT1):c.785-8C>A rs1204125933
NM_024426.6(WT1):c.786T>C (p.Gly262=)
NM_024426.6(WT1):c.789G>A (p.Glu263=) rs878855087
NM_024426.6(WT1):c.798C>T (p.Tyr266=) rs2133073037
NM_024426.6(WT1):c.801G>A (p.Ser267=)
NM_024426.6(WT1):c.804G>A (p.Val268=) rs1060504179
NM_024426.6(WT1):c.816C>A (p.Val272=) rs536750501
NM_024426.6(WT1):c.816C>G (p.Val272=)
NM_024426.6(WT1):c.825C>T (p.Cys275=)
NM_024426.6(WT1):c.834C>G (p.Pro278=) rs2133072527
NM_024426.6(WT1):c.837C>T (p.Thr279=) rs747613465
NM_024426.6(WT1):c.849C>A (p.Thr283=) rs145425799
NM_024426.6(WT1):c.849C>G (p.Thr283=)
NM_024426.6(WT1):c.84G>C (p.Gly28=)
NM_024426.6(WT1):c.855C>T (p.Ser285=) rs1320428764
NM_024426.6(WT1):c.865C>T (p.Leu289=) rs1554945037
NM_024426.6(WT1):c.867G>A (p.Leu289=) rs1590394212
NM_024426.6(WT1):c.868C>T (p.Leu290=)
NM_024426.6(WT1):c.876G>A (p.Thr292=) rs1343218741
NM_024426.6(WT1):c.876G>C (p.Thr292=) rs1343218741
NM_024426.6(WT1):c.876G>T (p.Thr292=) rs1343218741
NM_024426.6(WT1):c.879C>T (p.Pro293=) rs1274468551
NM_024426.6(WT1):c.87C>T (p.Cys29=) rs1554946770
NM_024426.6(WT1):c.882C>T (p.Tyr294=) rs1554945031
NM_024426.6(WT1):c.887+11G>A rs1286407878
NM_024426.6(WT1):c.887+12C>T
NM_024426.6(WT1):c.887+17C>T
NM_024426.6(WT1):c.887+18T>C
NM_024426.6(WT1):c.887+20T>C
NM_024426.6(WT1):c.887+6_887+8dup
NM_024426.6(WT1):c.887+9G>A
NM_024426.6(WT1):c.888-13G>T
NM_024426.6(WT1):c.888-16G>A
NM_024426.6(WT1):c.888-20T>A rs2133037949
NM_024426.6(WT1):c.888-5A>C rs751693310
NM_024426.6(WT1):c.888-6T>C
NM_024426.6(WT1):c.888-8T>C
NM_024426.6(WT1):c.888-9T>C rs1852720933
NM_024426.6(WT1):c.900C>T (p.Tyr300=) rs190440703
NM_024426.6(WT1):c.903A>G (p.Gln301=)
NM_024426.6(WT1):c.909A>G (p.Thr303=) rs2133037516
NM_024426.6(WT1):c.912C>A (p.Ser304=)
NM_024426.6(WT1):c.912C>T (p.Ser304=)
NM_024426.6(WT1):c.930C>G (p.Thr310=)
NM_024426.6(WT1):c.930C>T (p.Thr310=) rs1268419525
NM_024426.6(WT1):c.939G>A (p.Gln313=)
NM_024426.6(WT1):c.951A>C (p.Gly317=) rs2133036838
NM_024426.6(WT1):c.965+13C>T rs1159065961
NM_024426.6(WT1):c.965+20A>C
NM_024426.6(WT1):c.965+20A>G
NM_024426.6(WT1):c.965+7T>C rs1590375400
NM_024426.6(WT1):c.965+7T>G rs1590375400
NM_024426.6(WT1):c.966-12C>A rs2133032805
NM_024426.6(WT1):c.966-15CTT[2] rs1316773733
NM_024426.6(WT1):c.966-4C>G rs1590373580
NM_024426.6(WT1):c.966-4del rs1438888966
NM_024426.6(WT1):c.966-8T>C rs1273567991
NM_024426.6(WT1):c.978G>A (p.Gly326=) rs2133032654
NM_024426.6(WT1):c.981C>T (p.Ser327=)
NM_024426.6(WT1):c.987C>T (p.Ser329=)
NM_024426.6(WT1):c.99A>G (p.Pro33=) rs2133107306
NM_080647.1(TBX1):c.15C>T (p.Thr5=) rs764497467
NM_080647.1(TBX1):c.34+12G>A
NM_080647.1(TBX1):c.34+17T>A
NM_080647.1(TBX1):c.34+18G>C

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