|
NM_000342.3(SLC4A1):c.-195A>G
|
rs764370834
|
0.00106
|
|
NM_002180.3(IGHMBP2):c.1235+7C>T
|
rs776813722
|
0.00004
|
|
NM_001355436.2(SPTB):c.6173C>T (p.Thr2058Met)
|
rs756849461
|
0.00001
|
|
NM_000035.4(ALDOB):c.37A>C (p.Lys13Gln)
|
|
|
|
NM_000037.4(ANK1):c.3836T>G (p.Val1279Gly)
|
|
|
|
NM_000092.5(COL4A4):c.192+1G>A
|
|
|
|
NM_000092.5(COL4A4):c.2014T>C (p.Tyr672His)
|
rs2150312695
|
|
|
NM_000131.4(F7):c.-96C>A
|
|
|
|
NM_000142.5(FGFR3):c.276_277delinsAT (p.Arg93Trp)
|
rs1560406964
|
|
|
NM_000162.5(GCK):c.-429G>A
|
|
|
|
NM_000162.5(GCK):c.1079C>T (p.Ser360Leu)
|
|
|
|
NM_000162.5(GCK):c.1099G>T (p.Val367Leu)
|
|
|
|
NM_000162.5(GCK):c.124G>C (p.Asp42His)
|
rs1562719786
|
|
|
NM_000162.5(GCK):c.54G>T (p.Gln18His)
|
rs2096283329
|
|
|
NM_000162.5(GCK):c.799G>C (p.Asp267His)
|
|
|
|
NM_000166.6(GJB1):c.152T>C (p.Phe51Ser)
|
rs1602348850
|
|
|
NM_000295.5(SERPINA1):c.1244C>T (p.Pro415Leu)
|
rs2139664128
|
|
|
NM_000312.3(PROC):c.-150_-149delGT
|
rs1573429874
|
|
|
NM_000312.4(PROC):c.1213C>T (p.Pro405Ser)
|
rs1553425452
|
|
|
NM_000312.4(PROC):c.805G>C (p.Asp269His)
|
rs1558717559
|
|
|
NM_000313.4(PROS1):c.-3G>T
|
rs1709927865
|
|
|
NM_000313.4(PROS1):c.1861G>A (p.Gly621Ser)
|
rs2107124955
|
|
|
NM_000313.4(PROS1):c.517C>A (p.Gln173Lys)
|
rs2107170988
|
|
|
NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)
|
|
|
|
NM_000342.4(SLC4A1):c.2285G>A (p.Ser762Asn)
|
rs2047357659
|
|
|
NM_000352.6(ABCC8):c.188G>T (p.Ser63Ile)
|
|
|
|
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
|
|
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
|
|
|
NM_000388.4(CASR):c.2639C>G (p.Ala880Gly)
|
|
|
|
NM_000451.4(SHOX):c.236A>T (p.Lys79Met)
|
rs1556457962
|
|
|
NM_000458.4(HNF1B):c.527A>C (p.Gln176Pro)
|
rs2147574779
|
|
|
NM_000478.6(ALPL):c.1143C>G (p.His381Gln)
|
rs749419329
|
|
|
NM_000488.4(SERPINC1):c.670A>T (p.Asn224Tyr)
|
rs146733468
|
|
|
NM_000517.4(HBA2):c.-157C>T
|
|
|
|
NM_000517.4:c.-217C>T
|
|
|
|
NM_000517.6(HBA2):c.*108G>A
|
|
|
|
NM_000518.4(HBB):c.-122T>C
|
|
|
|
NM_000519.4(HBD):c.332T>C (p.Leu111Pro)
|
|
|
|
NM_000545.8(HNF1A):c.1613C>T (p.Pro538Leu)
|
rs2135850924
|
|
|
NM_000552.5(VWF):c.3292G>A (p.Ala1098Thr)
|
|
|
|
NM_000558.4(HBA1):c.-286C>G
|
|
|
|
NM_000558.5(HBA1):c.*79C>A
|
|
|
|
NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp)
|
rs1594796374
|
|
|
NM_001355436.2(SPTB):c.203T>C (p.Leu68Pro)
|
|
|
|
NM_001355436.2(SPTB):c.2407G>A (p.Glu803Lys)
|
|
|
|
NM_001369268.1(ACAN):c.2606A>G (p.Asp869Gly)
|
rs1897023474
|
|
|
NM_001854.4(COL11A1):c.1889A>T (p.Asp630Val)
|
|
|
|
NM_001939.3(DRP2):c.1698+5G>C
|
|
|
|
NM_003126.4(SPTA1):c.3787C>G (p.Gln1263Glu)
|
rs1553229990
|
|
|
NM_003126.4(SPTA1):c.4298T>C (p.Met1433Thr)
|
|
|
|
NM_003392.7(WNT5A):c.654G>C (p.Met218Ile)
|
|
|
|
NM_003995.4(NPR2):c.2519+3_2519+4insGGACCAAATCCTACCCCAGTG
|
rs2132092620
|
|
|
NM_012448.4(STAT5B):c.1324A>G (p.Ile442Val)
|
|
|
|
NM_014585.6(SLC40A1):c.139T>C (p.Ser47Pro)
|
rs1574245587
|
|
|
NM_018699.4(PRDM5):c.770G>C (p.Arg257Pro)
|
rs756946467
|
|
|
NM_018979.4(WNK1):c.7124del (p.Pro2375fs)
|
|
|
|
NM_174936.3(PCSK9):c.-308A>G
|
|
|
|
NM_175914.5(HNF4A):c.241G>T (p.Val81Leu)
|
|
|
|
NM_175914.5(HNF4A):c.426G>C (p.Gln142His)
|
|
|
|
NM_175914.5(HNF4A):c.998T>C (p.Ile333Thr)
|
rs2146468886
|
|
|
NM_213653.4(HJV):c.707A>G (p.Tyr236Cys)
|
rs1652501435
|
|