NM_000183.2(HADHB):c.-173T>C
|
rs749979964
|
0.00249
|
NM_000183.2(HADHB):c.-124C>G
|
rs575302805
|
0.00095
|
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=)
|
rs146538551
|
0.00086
|
NM_000182.5(HADHA):c.*355C>T
|
rs539549041
|
0.00071
|
NM_000183.3(HADHB):c.900C>T (p.Tyr300=)
|
rs144093705
|
0.00065
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser)
|
rs138696018
|
0.00036
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
NM_000183.3(HADHB):c.1023G>T (p.Met341Ile)
|
rs141484936
|
0.00031
|
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr)
|
rs143683481
|
0.00031
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
NM_000183.3(HADHB):c.*43C>T
|
rs192988436
|
0.00028
|
NM_000183.3(HADHB):c.640G>A (p.Val214Ile)
|
rs149693931
|
0.00028
|
NM_000182.5(HADHA):c.*586G>A
|
rs749568626
|
0.00021
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
NM_000182.5(HADHA):c.*239C>T
|
rs1001518961
|
0.00010
|
NM_000182.5(HADHA):c.1284C>T (p.Asn428=)
|
rs199535840
|
0.00009
|
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)
|
rs369588406
|
0.00009
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
NM_000182.5(HADHA):c.*110G>A
|
rs952439873
|
0.00008
|
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile)
|
rs145712438
|
0.00008
|
NM_000183.3(HADHB):c.514C>T (p.Pro172Ser)
|
rs367891116
|
0.00008
|
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln)
|
rs764507324
|
0.00007
|
NM_000182.5(HADHA):c.*403C>T
|
rs146210168
|
0.00006
|
NM_000183.2(HADHB):c.-176G>T
|
rs574318006
|
0.00006
|
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala)
|
rs371159065
|
0.00006
|
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp)
|
rs764006338
|
0.00006
|
NM_000183.3(HADHB):c.845G>A (p.Arg282His)
|
rs140355426
|
0.00006
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
NM_000183.3(HADHB):c.1000A>C (p.Lys334Gln)
|
rs774054520
|
0.00005
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00004
|
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val)
|
rs374840025
|
0.00004
|
NM_000183.3(HADHB):c.266A>G (p.His89Arg)
|
rs373356931
|
0.00004
|
NM_000183.3(HADHB):c.64+15A>T
|
rs1018820638
|
0.00004
|
NM_000182.5(HADHA):c.*182C>T
|
rs1013194171
|
0.00003
|
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr)
|
rs942477332
|
0.00003
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val)
|
rs545660610
|
0.00002
|
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)
|
rs146667859
|
0.00002
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
NM_000183.3(HADHB):c.134C>T (p.Thr45Met)
|
rs754537494
|
0.00002
|
NM_000183.3(HADHB):c.353A>T (p.Glu118Val)
|
rs761005966
|
0.00002
|
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro)
|
rs773127211
|
0.00002
|
NM_000183.3(HADHB):c.574A>G (p.Met192Val)
|
rs772405727
|
0.00002
|
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro)
|
rs142475516
|
0.00002
|
NM_000183.3(HADHB):c.713G>A (p.Arg238Gln)
|
rs369313023
|
0.00002
|
NM_000183.3(HADHB):c.844C>T (p.Arg282Cys)
|
rs374979465
|
0.00002
|
NM_000183.3(HADHB):c.965C>T (p.Ala322Val)
|
rs758786432
|
0.00002
|
NM_000182.5(HADHA):c.*405C>T
|
rs886055859
|
0.00001
|
NM_000182.5(HADHA):c.*437T>A
|
rs779402635
|
0.00001
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
NM_000182.5(HADHA):c.2037A>G (p.Thr679=)
|
rs1231960929
|
0.00001
|
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val)
|
rs775428463
|
0.00001
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
|
rs759968341
|
0.00001
|
NM_000183.2(HADHB):c.-202G>A
|
rs886055865
|
0.00001
|
NM_000183.2(HADHB):c.-235delT
|
rs886055864
|
0.00001
|
NM_000183.3(HADHB):c.-53C>T
|
rs1187378058
|
0.00001
|
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu)
|
rs144711755
|
0.00001
|
NM_000183.3(HADHB):c.1315A>G (p.Met439Val)
|
rs1392529342
|
0.00001
|
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp)
|
rs781574694
|
0.00001
|
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly)
|
rs971767907
|
0.00001
|
NM_000183.3(HADHB):c.1390-2A>G
|
rs1297095534
|
0.00001
|
NM_000183.3(HADHB):c.173A>G (p.Asp58Gly)
|
rs746076418
|
0.00001
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
NM_000183.3(HADHB):c.230A>G (p.His77Arg)
|
rs760290863
|
0.00001
|
NM_000183.3(HADHB):c.255-1G>A
|
rs112842641
|
0.00001
|
NM_000183.3(HADHB):c.443-10T>C
|
rs371257973
|
0.00001
|
NM_000183.3(HADHB):c.493G>A (p.Val165Ile)
|
rs766573917
|
0.00001
|
NM_000183.3(HADHB):c.503T>A (p.Met168Lys)
|
rs1672656422
|
0.00001
|
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln)
|
rs749861331
|
0.00001
|
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu)
|
rs758393205
|
0.00001
|
NM_000183.3(HADHB):c.74C>T (p.Pro25Leu)
|
rs1434038212
|
0.00001
|
NM_000183.3(HADHB):c.809C>T (p.Pro270Leu)
|
rs767202789
|
0.00001
|
NM_000183.3(HADHB):c.872A>G (p.Lys291Arg)
|
rs573709691
|
0.00001
|
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser)
|
rs891954464
|
0.00001
|
NM_000183.3(HADHB):c.919A>G (p.Asn307Asp)
|
rs769558977
|
0.00001
|
NM_000183.3(HADHB):c.98G>A (p.Arg33Gln)
|
rs372980146
|
0.00001
|
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu)
|
rs770736746
|
0.00001
|
NC_000002.11:g.(?_26512766)_(26512821_?)del
|
|
|
NM_000182.4(HADHA):c.-37T>C
|
rs528818728
|
|
NM_000182.5(HADHA):c.*103A>T
|
rs1360388686
|
|
NM_000182.5(HADHA):c.*373GT[1]
|
rs886055861
|
|
NM_000182.5(HADHA):c.*389C>G
|
rs886055860
|
|
NM_000182.5(HADHA):c.*458TG[3]
|
rs146500488
|
|
NM_000182.5(HADHA):c.*46G>A
|
rs367911534
|
|
NM_000182.5(HADHA):c.*489G>A
|
rs886055857
|
|
NM_000182.5(HADHA):c.*494G>T
|
rs886055856
|
|
NM_000182.5(HADHA):c.*59C>T
|
rs1669485295
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser)
|
rs138966725
|
|
NM_000182.5(HADHA):c.252A>C (p.Gln84His)
|
rs2147784410
|
|
NM_000182.5(HADHA):c.454-13C>T
|
rs367636661
|
|
NM_000182.5(HADHA):c.676+6T>C
|
rs886055863
|
|
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)
|
rs886055862
|
|
NM_000183.3(HADHB):c.*241T>G
|
rs886055867
|
|
NM_000183.3(HADHB):c.*244T>G
|
rs886055868
|
|
NM_000183.3(HADHB):c.*268G>A
|
rs886055869
|
|
NM_000183.3(HADHB):c.*380A>G
|
rs886055870
|
|
NM_000183.3(HADHB):c.-9+11G>C
|
rs886055866
|
|
NM_000183.3(HADHB):c.1044A>C (p.Lys348Asn)
|
rs1038882025
|
|
NM_000183.3(HADHB):c.1048C>A (p.Gln350Lys)
|
|
|
NM_000183.3(HADHB):c.1061+3A>G
|
|
|
NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)
|
|
|
NM_000183.3(HADHB):c.109+4C>T
|
rs769724590
|
|
NM_000183.3(HADHB):c.109+5A>G
|
|
|
NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)
|
|
|
NM_000183.3(HADHB):c.1110G>C (p.Met370Ile)
|
|
|
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr)
|
rs1558360702
|
|
NM_000183.3(HADHB):c.1128T>G (p.Phe376Leu)
|
rs2147831395
|
|
NM_000183.3(HADHB):c.112G>T (p.Val38Phe)
|
|
|
NM_000183.3(HADHB):c.1142C>T (p.Ala381Val)
|
rs774703599
|
|
NM_000183.3(HADHB):c.1149+4A>G
|
rs2303893
|
|
NM_000183.3(HADHB):c.1180G>T (p.Asp394Tyr)
|
|
|
NM_000183.3(HADHB):c.1186G>T (p.Asp396Tyr)
|
rs2147832336
|
|
NM_000183.3(HADHB):c.1203C>A (p.Asn401Lys)
|
|
|
NM_000183.3(HADHB):c.1279G>A (p.Gly427Arg)
|
|
|
NM_000183.3(HADHB):c.1319C>G (p.Ala440Gly)
|
|
|
NM_000183.3(HADHB):c.1321G>A (p.Ala441Thr)
|
|
|
NM_000183.3(HADHB):c.1357G>A (p.Gly453Ser)
|
|
|
NM_000183.3(HADHB):c.1387C>G (p.Gln463Glu)
|
|
|
NM_000183.3(HADHB):c.1399A>G (p.Met467Val)
|
|
|
NM_000183.3(HADHB):c.1405G>A (p.Val469Met)
|
rs1673196031
|
|
NM_000183.3(HADHB):c.1409A>C (p.Glu470Ala)
|
rs2147837732
|
|
NM_000183.3(HADHB):c.150T>A (p.Asn50Lys)
|
|
|
NM_000183.3(HADHB):c.166G>T (p.Val56Leu)
|
|
|
NM_000183.3(HADHB):c.206C>G (p.Thr69Ser)
|
|
|
NM_000183.3(HADHB):c.210-17T>A
|
|
|
NM_000183.3(HADHB):c.210-5C>A
|
rs763169112
|
|
NM_000183.3(HADHB):c.214A>G (p.Lys72Glu)
|
|
|
NM_000183.3(HADHB):c.221T>G (p.Leu74Arg)
|
|
|
NM_000183.3(HADHB):c.223A>T (p.Met75Leu)
|
|
|
NM_000183.3(HADHB):c.254C>T (p.Thr85Met)
|
|
|
NM_000183.3(HADHB):c.260T>C (p.Leu87Ser)
|
rs1171889657
|
|
NM_000183.3(HADHB):c.299A>G (p.Tyr100Cys)
|
|
|
NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)
|
|
|
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
|
|
|
NM_000183.3(HADHB):c.346G>T (p.Ala116Ser)
|
rs766228457
|
|
NM_000183.3(HADHB):c.355-12T>C
|
|
|
NM_000183.3(HADHB):c.388C>T (p.Pro130Ser)
|
|
|
NM_000183.3(HADHB):c.431C>T (p.Ala144Val)
|
rs1672561193
|
|
NM_000183.3(HADHB):c.443-10T>A
|
|
|
NM_000183.3(HADHB):c.481G>A (p.Val161Met)
|
|
|
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp)
|
rs1558356679
|
|
NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)
|
|
|
NM_000183.3(HADHB):c.508G>A (p.Asp170Asn)
|
|
|
NM_000183.3(HADHB):c.556C>G (p.Leu186Val)
|
|
|
NM_000183.3(HADHB):c.632T>A (p.Leu211His)
|
rs1446857112
|
|
NM_000183.3(HADHB):c.652T>C (p.Ser218Pro)
|
|
|
NM_000183.3(HADHB):c.658A>G (p.Ser220Gly)
|
|
|
NM_000183.3(HADHB):c.65C>G (p.Ser22Cys)
|
rs1671530038
|
|
NM_000183.3(HADHB):c.679G>A (p.Ala227Thr)
|
|
|
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr)
|
rs987203346
|
|
NM_000183.3(HADHB):c.694G>T (p.Ala232Ser)
|
rs987203346
|
|
NM_000183.3(HADHB):c.710C>G (p.Ser237Cys)
|
|
|
NM_000183.3(HADHB):c.716T>C (p.Leu239Pro)
|
|
|
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr)
|
rs770044899
|
|
NM_000183.3(HADHB):c.80G>C (p.Ser27Thr)
|
|
|
NM_000183.3(HADHB):c.832G>C (p.Asp278His)
|
rs982733832
|
|
NM_000183.3(HADHB):c.863A>G (p.Gln288Arg)
|
|
|
NM_000183.3(HADHB):c.91C>G (p.Gln31Glu)
|
|
|
NM_000183.3(HADHB):c.923C>A (p.Ser308Tyr)
|
|
|
NM_000183.3(HADHB):c.930C>A (p.Phe310Leu)
|
|
|
NM_000183.3(HADHB):c.933+6del
|
|
|
NM_000183.3(HADHB):c.944C>T (p.Ala315Val)
|
|
|
NM_000183.3(HADHB):c.953T>G (p.Met318Arg)
|
rs2147829865
|
|
NM_000183.3(HADHB):c.965C>A (p.Ala322Glu)
|
|
|
NM_000183.3(HADHB):c.982G>A (p.Ala328Thr)
|
|
|
NM_000183.3(HADHB):c.989G>A (p.Gly330Asp)
|
rs1349682003
|
|
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu)
|
rs777680722
|
|