NM_002510.3(GPNMB):c.565C>T (p.Arg189Ter)
|
rs140352180
|
0.00016
|
NM_003999.3(OSMR):c.2090A>C (p.Lys697Thr)
|
rs387906823
|
0.00010
|
NM_004425.4(ECM1):c.1019del (p.Gln340fs)
|
rs778473713
|
0.00004
|
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile)
|
rs121909116
|
0.00004
|
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs)
|
rs312262693
|
0.00004
|
NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)
|
rs387906822
|
0.00003
|
NM_004425.4(ECM1):c.157C>T (p.Arg53Ter)
|
rs121909115
|
0.00002
|
NM_004425.4(ECM1):c.1036C>T (p.Gln346Ter)
|
rs121909114
|
0.00001
|
NM_004425.4(ECM1):c.507del (p.Arg171fs)
|
rs869025565
|
0.00001
|
NM_014753.4(BMS1):c.2789G>A (p.Arg930His)
|
rs587777706
|
0.00001
|
NC_000023.11:g.11106247_11114917del
|
|
|
NM_000222.3(KIT):c.1598C>A (p.Ala533Asp)
|
rs753212327
|
|
NM_000222.3(KIT):c.1676T>C (p.Val559Ala)
|
rs121913517
|
|
NM_000222.3(KIT):c.2447A>T (p.Asp816Val)
|
rs121913507
|
|
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly)
|
rs121913682
|
|
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile)
|
rs993022333
|
|
NM_000516.7(GNAS):c.348del (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.725del (p.Thr242fs)
|
rs1601163749
|
|
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
|
|
|
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)
|
rs786205225
|
|
NM_001135998.3(NDUFB11):c.372del (p.Arg124fs)
|
rs876657384
|
|
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu)
|
rs587776998
|
|
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His)
|
rs587776999
|
|
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg)
|
rs587776999
|
|
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu)
|
rs587776999
|
|
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro)
|
rs587777001
|
|
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln)
|
rs587777000
|
|
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp)
|
rs587777003
|
|
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro)
|
rs587777002
|
|
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter)
|
rs397514585
|
|
NM_001866.3(COX7B):c.196del (p.Leu66fs)
|
rs397514583
|
|
NM_001866.3(COX7B):c.41-2A>G
|
rs397514584
|
|
NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser)
|
rs786204832
|
|
NM_002510.3(GPNMB):c.1056del (p.Pro353fs)
|
rs763065333
|
|
NM_002510.3(GPNMB):c.296del (p.Asn99fs)
|
rs1554300664
|
|
NM_002510.3(GPNMB):c.660T>G (p.Tyr220Ter)
|
rs770211260
|
|
NM_002510.3(GPNMB):c.719_720del (p.Val240fs)
|
rs747723062
|
|
NM_002510.3(GPNMB):c.877_880del (p.Val293fs)
|
rs773435101
|
|
NM_003999.3(OSMR):c.1853G>C (p.Gly618Ala)
|
rs63750560
|
|
NM_003999.3(OSMR):c.1940A>T (p.Asp647Val)
|
rs387906821
|
|
NM_003999.3(OSMR):c.2072T>C (p.Ile691Thr)
|
rs63750567
|
|
NM_004425.4(ECM1):c.1304+35_*302del
|
|
|
NM_004425.4(ECM1):c.480G>A (p.Trp160Ter)
|
rs1560265435
|
|
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter)
|
rs121917888
|
|
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys)
|
rs121917889
|
|
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs)
|
rs312262690
|
|
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys)
|
rs137852901
|
|
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=)
|
rs546102223
|
|
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp)
|
rs137852902
|
|
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr)
|
rs137852905
|
|
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter)
|
rs137852904
|
|
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg)
|
rs137852903
|
|
NM_139017.7(IL31RA):c.1562C>T (p.Ser521Phe)
|
rs1561123748
|
|