NM_001022.4(RPS19):c.356+14=
|
rs1366610
|
0.99999
|
NM_001022.4(RPS19):c.411+12G>A
|
rs61762296
|
0.00287
|
NM_001022.4(RPS19):c.72-92A>G
|
rs566047445
|
0.00146
|
NM_001022.4(RPS19):c.60C>G (p.Ala20=)
|
rs149249194
|
0.00108
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
NM_001022.4(RPS19):c.333A>G (p.Lys111=)
|
rs781845960
|
0.00008
|
NM_001022.4(RPS19):c.356+13G>C
|
rs781957086
|
0.00008
|
NM_001022.4(RPS19):c.*54T>C
|
rs527896025
|
0.00007
|
NM_001022.4(RPS19):c.173-19C>G
|
rs782495262
|
0.00006
|
NM_001022.4(RPS19):c.183G>A (p.Ala61=)
|
rs782727047
|
0.00006
|
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr)
|
rs782368794
|
0.00006
|
NM_001022.4(RPS19):c.411+19G>T
|
rs782394063
|
0.00006
|
NM_001022.4(RPS19):c.71+19G>A
|
rs377615364
|
0.00006
|
NM_001022.4(RPS19):c.75C>G (p.Ser25=)
|
rs370343297
|
0.00006
|
NM_001022.4(RPS19):c.10G>T (p.Val4Phe)
|
rs782693679
|
0.00004
|
NM_001022.4(RPS19):c.192G>C (p.Leu64=)
|
rs144069838
|
0.00004
|
NM_001022.4(RPS19):c.6T>G (p.Pro2=)
|
rs782512026
|
0.00004
|
NM_001022.4(RPS19):c.72-17C>G
|
rs150151184
|
0.00004
|
NM_001022.4(RPS19):c.255C>T (p.Asn85=)
|
rs781860325
|
0.00003
|
NM_001022.4(RPS19):c.372A>T (p.Thr124=)
|
rs782722836
|
0.00003
|
NM_001022.4(RPS19):c.411+6G>C
|
rs138397598
|
0.00003
|
NM_001022.4(RPS19):c.87A>G (p.Lys29=)
|
rs11540256
|
0.00002
|
NM_001022.3(RPS19):c.-139C>T
|
rs886054467
|
0.00001
|
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg)
|
rs1400674746
|
0.00001
|
NM_001022.4(RPS19):c.173-9T>C
|
rs782552614
|
0.00001
|
NM_001022.4(RPS19):c.24C>T (p.Asp8=)
|
rs782536520
|
0.00001
|
NM_001022.4(RPS19):c.259G>A (p.Val87Ile)
|
rs782752734
|
0.00001
|
NM_001022.4(RPS19):c.356+12del
|
rs781789110
|
0.00001
|
NM_001022.4(RPS19):c.393G>A (p.Leu131=)
|
rs1447794153
|
0.00001
|
NM_001022.4(RPS19):c.405C>T (p.Ala135=)
|
rs550819306
|
0.00001
|
NM_001022.4(RPS19):c.93C>G (p.Pro31=)
|
rs1318520916
|
0.00001
|
NC_000019.9:g.(?_42363988)_(42364359_?)del
|
|
|
NC_000019.9:g.(?_42363988)_(42364925_?)del
|
|
|
NC_000019.9:g.(?_42363988)_(42375445_?)del
|
|
|
NC_000019.9:g.(?_42373091)_(42375455_?)del
|
|
|
NM_001022.3(RPS19):c.-146_-145insGCCA
|
rs34020014
|
|
NM_001022.4(RPS19):c.-1+26G>T
|
rs74449035
|
|
NM_001022.4(RPS19):c.101del (p.Val34fs)
|
|
|
NM_001022.4(RPS19):c.108C>T (p.Thr36=)
|
|
|
NM_001022.4(RPS19):c.109G>T (p.Val37Phe)
|
|
|
NM_001022.4(RPS19):c.112A>C (p.Lys38Gln)
|
|
|
NM_001022.4(RPS19):c.114G>A (p.Lys38=)
|
|
|
NM_001022.4(RPS19):c.120C>G (p.Ala40=)
|
|
|
NM_001022.4(RPS19):c.132G>A (p.Glu44=)
|
|
|
NM_001022.4(RPS19):c.13dup (p.Thr5fs)
|
rs149420497
|
|
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
|
|
|
NM_001022.4(RPS19):c.141C>T (p.Pro47=)
|
|
|
NM_001022.4(RPS19):c.145G>C (p.Asp49His)
|
|
|
NM_001022.4(RPS19):c.159C>T (p.Phe53=)
|
|
|
NM_001022.4(RPS19):c.15T>A (p.Thr5=)
|
rs2123256038
|
|
NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)
|
|
|
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
|
|
|
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
|
|
|
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
|
|
|
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
|
|
|
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer)
|
rs2074020491
|
|
NM_001022.4(RPS19):c.172+17T>C
|
|
|
NM_001022.4(RPS19):c.173-16C>T
|
|
|
NM_001022.4(RPS19):c.173-1G>T
|
rs2123283622
|
|
NM_001022.4(RPS19):c.173-20C>G
|
|
|
NM_001022.4(RPS19):c.173-20C>T
|
|
|
NM_001022.4(RPS19):c.173-2A>G
|
rs111833764
|
|
NM_001022.4(RPS19):c.173-6C>T
|
|
|
NM_001022.4(RPS19):c.173-8_173-7delinsTT
|
rs2123283596
|
|
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu)
|
rs1600621092
|
|
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
|
|
|
NM_001022.4(RPS19):c.182C>T (p.Ala61Val)
|
|
|
NM_001022.4(RPS19):c.183G>C (p.Ala61=)
|
|
|
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)
|
rs104894711
|
|
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)
|
rs1555841301
|
|
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro)
|
rs1555841301
|
|
NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)
|
|
|
NM_001022.4(RPS19):c.199C>T (p.Arg67Trp)
|
|
|
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
|
|
|
NM_001022.4(RPS19):c.200G>A (p.Arg67Gln)
|
|
|
NM_001022.4(RPS19):c.207C>T (p.Gly69=)
|
|
|
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
|
|
|
NM_001022.4(RPS19):c.214G>T (p.Val72Phe)
|
rs1600621248
|
|
NM_001022.4(RPS19):c.21del (p.Asp8fs)
|
|
|
NM_001022.4(RPS19):c.226A>G (p.Thr76Ala)
|
|
|
NM_001022.4(RPS19):c.245G>A (p.Arg82His)
|
rs782814286
|
|
NM_001022.4(RPS19):c.245G>T (p.Arg82Leu)
|
|
|
NM_001022.4(RPS19):c.257dup (p.Val87fs)
|
rs2074118749
|
|
NM_001022.4(RPS19):c.25G>A (p.Val9Met)
|
|
|
NM_001022.4(RPS19):c.266C>G (p.Pro89Arg)
|
|
|
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
|
|
|
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)
|
rs61762293
|
|
NM_001022.4(RPS19):c.281G>A (p.Arg94Gln)
|
|
|
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
|
|
|
NM_001022.4(RPS19):c.288dup (p.Lys97fs)
|
|
|
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs)
|
rs1555841356
|
|
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
|
|
|
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
|
|
|
NM_001022.4(RPS19):c.305G>A (p.Arg102Gln)
|
|
|
NM_001022.4(RPS19):c.308T>A (p.Val103Asp)
|
rs1131691437
|
|
NM_001022.4(RPS19):c.317C>T (p.Ala106Val)
|
rs2074119741
|
|
NM_001022.4(RPS19):c.320T>C (p.Leu107Pro)
|
|
|
NM_001022.4(RPS19):c.328C>G (p.Leu110Val)
|
|
|
NM_001022.4(RPS19):c.330G>A (p.Leu110=)
|
rs2123284228
|
|
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del)
|
rs1064794604
|
|
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
|
|
|
NM_001022.4(RPS19):c.347del (p.Asp116fs)
|
|
|
NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)
|
|
|
NM_001022.4(RPS19):c.356+12A>G
|
|
|
NM_001022.4(RPS19):c.356+13G>T
|
|
|
NM_001022.4(RPS19):c.356+14delinsGG
|
|
|
NM_001022.4(RPS19):c.356+15G>A
|
|
|
NM_001022.4(RPS19):c.356+169CT[2]
|
rs369353222
|
|
NM_001022.4(RPS19):c.356+18G>C
|
rs61762294
|
|
NM_001022.4(RPS19):c.356+18G>T
|
rs61762294
|
|
NM_001022.4(RPS19):c.356+19G>A
|
|
|
NM_001022.4(RPS19):c.356+1G>A
|
rs879993801
|
|
NM_001022.4(RPS19):c.356+5G>A
|
|
|
NM_001022.4(RPS19):c.358G>A (p.Gly120Ser)
|
|
|
NM_001022.4(RPS19):c.365A>G (p.Lys122Arg)
|
|
|
NM_001022.4(RPS19):c.368T>A (p.Leu123Gln)
|
|
|
NM_001022.4(RPS19):c.373C>A (p.Pro125Thr)
|
|
|
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)
|
rs786200936
|
|
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)
|
rs1060503688
|
|
NM_001022.4(RPS19):c.384_385del (p.Asp130fs)
|
rs869066130
|
|
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
|
|
|
NM_001022.4(RPS19):c.392T>G (p.Leu131Arg)
|
|
|
NM_001022.4(RPS19):c.3G>A (p.Met1Ile)
|
rs138938035
|
|
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)
|
|
|
NM_001022.4(RPS19):c.3G>T (p.Met1Ile)
|
rs138938035
|
|
NM_001022.4(RPS19):c.402C>T (p.Ile134=)
|
|
|
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter)
|
rs144337183
|
|
NM_001022.4(RPS19):c.409C>T (p.Gln137Ter)
|
|
|
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
|
rs782608155
|
|
NM_001022.4(RPS19):c.411+11C>T
|
|
|
NM_001022.4(RPS19):c.411+16G>C
|
|
|
NM_001022.4(RPS19):c.411+19G>A
|
|
|
NM_001022.4(RPS19):c.411+20T>G
|
|
|
NM_001022.4(RPS19):c.411+2_411+6del
|
|
|
NM_001022.4(RPS19):c.411+3A>G
|
rs2123286000
|
|
NM_001022.4(RPS19):c.411+6G>T
|
|
|
NM_001022.4(RPS19):c.412-2A>G
|
|
|
NM_001022.4(RPS19):c.412-3C>T
|
|
|
NM_001022.4(RPS19):c.412-8_412-1dup
|
rs2123290691
|
|
NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG (p.Ala139fs)
|
|
|
NM_001022.4(RPS19):c.49G>A (p.Ala17Thr)
|
|
|
NM_001022.4(RPS19):c.52C>T (p.Leu18=)
|
|
|
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro)
|
rs2074021310
|
|
NM_001022.4(RPS19):c.57A>G (p.Ala19=)
|
rs2123256237
|
|
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs)
|
rs2123256254
|
|
NM_001022.4(RPS19):c.64C>T (p.Leu22Phe)
|
|
|
NM_001022.4(RPS19):c.71+12del
|
rs886054470
|
|
NM_001022.4(RPS19):c.71+18G>A
|
|
|
NM_001022.4(RPS19):c.71+1G>C
|
rs2123256342
|
|
NM_001022.4(RPS19):c.72-10T>G
|
rs1176399879
|
|
NM_001022.4(RPS19):c.72-15C>G
|
rs530537278
|
|
NM_001022.4(RPS19):c.72-15C>T
|
|
|
NM_001022.4(RPS19):c.72-1G>A
|
rs146366047
|
|
NM_001022.4(RPS19):c.72-9T>A
|
|
|
NM_001022.4(RPS19):c.75C>T (p.Ser25=)
|
rs370343297
|
|
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)
|
|
|
NM_001022.4(RPS19):c.80A>G (p.Lys27Arg)
|
|
|
NM_001022.4(RPS19):c.90C>G (p.Val30=)
|
|
|
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
|
|
|
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)
|
rs104894716
|
|
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter)
|
rs2074026880
|
|