|
NM_001022.4(RPS19):c.356+14=
|
rs1366610
|
0.99999
|
|
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)
|
rs11540832
|
0.00574
|
|
NM_001022.4(RPS19):c.411+12G>A
|
rs61762296
|
0.00287
|
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
|
NM_001022.3(RPS19):c.-234G>A
|
rs142324259
|
0.00161
|
|
NM_001022.4(RPS19):c.60C>G (p.Ala20=)
|
rs149249194
|
0.00108
|
|
NM_001022.4(RPS19):c.-10A>G
|
rs564634801
|
0.00080
|
|
NM_001022.4(RPS19):c.1-14A>G
|
rs201317022
|
0.00044
|
|
NM_001022.4(RPS19):c.164C>T (p.Thr55Met)
|
rs147508369
|
0.00039
|
|
NM_001022.3(RPS19):c.-274T>C
|
rs77406992
|
0.00036
|
|
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg)
|
rs143477104
|
0.00029
|
|
NM_001022.4(RPS19):c.1-13C>T
|
rs200634600
|
0.00028
|
|
NM_001022.3(RPS19):c.-288A>C
|
rs192556926
|
0.00024
|
|
NM_001022.3(RPS19):c.-50G>A
|
rs886634767
|
0.00019
|
|
NM_001022.4(RPS19):c.333A>G (p.Lys111=)
|
rs781845960
|
0.00008
|
|
NM_001022.3(RPS19):c.-74C>T
|
rs886054468
|
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.72-17C>G
|
rs150151184
|
0.00004
|
|
NM_001022.4(RPS19):c.1-7C>T
|
rs782801643
|
0.00003
|
|
NM_001022.4(RPS19):c.1-9C>A
|
rs376460080
|
0.00002
|
|
NM_001022.3(RPS19):c.-339T>C
|
rs886054465
|
0.00001
|
|
NM_001022.4(RPS19):c.-1+14C>T
|
rs886054469
|
0.00001
|
|
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg)
|
rs1400674746
|
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_000969.5(RPL5):c.169_172del (p.Asn57fs)
|
rs1558284033
|
|
|
NM_001022.3(RPS19):c.-151G>T
|
rs886054466
|
|
|
NM_001022.3(RPS19):c.-190C>G
|
rs1053550637
|
|
|
NM_001022.3(RPS19):c.1-231_173-3418del
|
|
|
|
NM_001022.3(RPS19):c.[43G>T;164C>T]
|
|
|
|
NM_001022.4(RPS19):c.-26C>T
|
rs2074012484
|
|
|
NM_001022.4(RPS19):c.1-9C>T
|
|
|
|
NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)
|
|
|
|
NM_001022.4(RPS19):c.124C>T (p.His42Tyr)
|
|
|
|
NM_001022.4(RPS19):c.14del (p.Thr5fs)
|
|
|
|
NM_001022.4(RPS19):c.172+5G>C
|
rs886054471
|
|
|
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp)
|
rs104894711
|
|
|
NM_001022.4(RPS19):c.186_187del (p.His63fs)
|
|
|
|
NM_001022.4(RPS19):c.198C>T (p.Leu66=)
|
rs1275070186
|
|
|
NM_001022.4(RPS19):c.1A>G (p.Met1Val)
|
rs2123255913
|
|
|
NM_001022.4(RPS19):c.245G>A (p.Arg82His)
|
rs782814286
|
|
|
NM_001022.4(RPS19):c.24_31dup (p.Gln11delinsProTer)
|
|
|
|
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter)
|
rs121908649
|
|
|
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter)
|
rs61762293
|
|
|
NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs)
|
rs2074119405
|
|
|
NM_001022.4(RPS19):c.296_297del (p.Val99fs)
|
rs1555841356
|
|
|
NM_001022.4(RPS19):c.302G>A (p.Arg101His)
|
rs2123284131
|
|
|
NM_001022.4(RPS19):c.307del (p.Val103fs)
|
rs786200935
|
|
|
NM_001022.4(RPS19):c.311T>C (p.Leu104Pro)
|
|
|
|
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.356+3A>C
|
rs1555841379
|
|
|
NM_001022.4(RPS19):c.357-5C>G
|
rs782129469
|
|
|
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer)
|
rs1568796003
|
|
|
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)
|
|
|
|
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)
|
rs786200936
|
|
|
NM_001022.4(RPS19):c.3G>T (p.Met1Ile)
|
rs138938035
|
|
|
NM_001022.4(RPS19):c.403_404del (p.Ala135fs)
|
rs2123285949
|
|
|
NM_001022.4(RPS19):c.71+6T>A
|
rs2074021759
|
|
|
NM_001022.4(RPS19):c.71del (p.Lys24fs)
|
|
|
|
NM_001022.4(RPS19):c.72-15C>G
|
rs530537278
|
|
|
NM_001022.4(RPS19):c.75C>T (p.Ser25=)
|
rs370343297
|
|
|
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter)
|
rs104894716
|
|
|
NM_001022.4(RPS19):c.[134_135inv;138_139dup]
|
|
|
|
NM_182922.4(HEATR3):c.399+1G>T
|
rs2150594383
|
|
|
NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)
|
rs1184398890
|
|
|
NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu)
|
rs2150600578
|
|