|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
|
NM_000324.3(RHAG):c.808G>A (p.Val270Ile)
|
rs16879498
|
0.04007
|
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
|
NM_000037.4(ANK1):c.5097-34C>T
|
rs185434561
|
0.00261
|
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
|
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)
|
rs137853120
|
0.00006
|
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
|
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter)
|
rs137853121
|
0.00001
|
|
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs)
|
rs1384933966
|
0.00001
|
|
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
|
|
|
|
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
|
|
|
|
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
|
|
|
|
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
|
|
|
|
NM_000032.5(ALAS2):c.-15-2188A>G
|
|
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
|
NM_000298.6(PKLR):c.375+10G>T
|
rs8177971
|
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
|
NM_000518.5(HBB):c.282_283dup (p.Asp95fs)
|
rs34533941
|
|
|
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
|
rs1570566590
|
|
|
NM_001011.4(RPS7):c.-19+1G>A
|
rs1064796859
|
|
|
NM_001011.4(RPS7):c.65_68del (p.Gly22fs)
|
|
|
|
NM_001022.4(RPS19):c.188A>C (p.His63Pro)
|
|
|
|
NM_001022.4(RPS19):c.316del (p.Ala106fs)
|
|
|
|
NM_001022.4(RPS19):c.353A>G (p.Asp118Gly)
|
|
|
|
NM_001022.4(RPS19):c.356+18G>C
|
rs61762294
|
|
|
NM_001022.4(RPS19):c.362G>T (p.Arg121Leu)
|
|
|
|
NM_001029.5(RPS26):c.182-16_182-4del
|
|
|
|
NM_001029.5(RPS26):c.1A>G (p.Met1Val)
|
rs143951267
|
|
|
NM_001029.5(RPS26):c.3+1G>T
|
|
|
|
NM_001032.5(RPS29):c.63-6T>G
|
rs1594573747
|
|
|
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)
|
rs267607180
|
|
|
NM_001271696.3(ABCB7):c.1936-3C>G
|
rs1602330362
|
|
|
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
|
|
|
|
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)
|
rs121918648
|
|
|
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)
|
rs121918649
|
|
|
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)
|
|
|
|
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
|
|
|
|
NM_001374504.1(TMPRSS6):c.631G>T (p.Gly211Cys)
|
rs2146149841
|
|
|
NM_001374504.1(TMPRSS6):c.836+1G>A
|
|
|
|
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe)
|
rs121918639
|
|
|
NM_014729.3(TOX):c.904_905delinsGG (p.Leu302Gly)
|
|
|
|
NM_020207.7(ERCC6L2):c.3492+2T>G
|
rs1588013817
|
|
|
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)
|
rs80338697
|
|
|
NM_198535.3(ZNF699):c.175+1G>A
|
rs749115647
|
|