NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_020320.5(RARS2):c.773G>A (p.Arg258His)
|
rs145297855
|
0.00044
|
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
|
rs142348911
|
0.00026
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)
|
rs775295739
|
0.00006
|
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile)
|
rs201386427
|
0.00006
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly)
|
rs765088174
|
0.00005
|
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)
|
rs199835443
|
0.00004
|
NM_020320.5(RARS2):c.1679G>A (p.Arg560His)
|
rs756502974
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_020320.5(RARS2):c.160_161del (p.Asp53_Asn54insTer)
|
rs756101515
|
0.00002
|
NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter)
|
rs199728745
|
0.00001
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
NM_020320.5(RARS2):c.1415+2T>C
|
rs772989345
|
0.00001
|
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs)
|
rs863224183
|
0.00001
|
NM_020320.5(RARS2):c.1650+5G>A
|
rs750433723
|
0.00001
|
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn)
|
rs769045045
|
0.00001
|
NM_020320.5(RARS2):c.685C>T (p.Arg229Ter)
|
rs769473411
|
0.00001
|
NM_020320.5(RARS2):c.771+2T>G
|
rs771801398
|
0.00001
|
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln)
|
rs1258569046
|
0.00001
|
NM_020320.5(RARS2):c.879-1G>C
|
rs1428801547
|
0.00001
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020320.5(RARS2):c.1035+2T>G
|
|
|
NM_020320.5(RARS2):c.1055dup (p.His353fs)
|
|
|
NM_020320.5(RARS2):c.110+5A>G
|
rs63749985
|
|
NM_020320.5(RARS2):c.111-2A>G
|
|
|
NM_020320.5(RARS2):c.1113-2A>G
|
|
|
NM_020320.5(RARS2):c.1168G>A (p.Val390Ile)
|
rs1773191232
|
|
NM_020320.5(RARS2):c.1210A>G (p.Met404Val)
|
|
|
NM_020320.5(RARS2):c.1237+1G>C
|
|
|
NM_020320.5(RARS2):c.1238-2A>G
|
rs1167507020
|
|
NM_020320.5(RARS2):c.1297ATT[1] (p.Ile434del)
|
rs1772724414
|
|
NM_020320.5(RARS2):c.1305+2T>C
|
|
|
NM_020320.5(RARS2):c.1306-1G>A
|
|
|
NM_020320.5(RARS2):c.1315_1318del (p.Gly439fs)
|
|
|
NM_020320.5(RARS2):c.1319T>G (p.Leu440Ter)
|
|
|
NM_020320.5(RARS2):c.1340_1365del (p.Phe447fs)
|
rs1064795060
|
|
NM_020320.5(RARS2):c.1357_1358del (p.Phe453fs)
|
|
|
NM_020320.5(RARS2):c.1381_1385del (p.Val461fs)
|
|
|
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)
|
rs753312969
|
|
NM_020320.5(RARS2):c.1415+1G>A
|
|
|
NM_020320.5(RARS2):c.1423G>T (p.Glu475Ter)
|
rs886041639
|
|
NM_020320.5(RARS2):c.1425_1426del (p.Glu475fs)
|
|
|
NM_020320.5(RARS2):c.1471C>T (p.Gln491Ter)
|
|
|
NM_020320.5(RARS2):c.1480_1481del (p.Gln494fs)
|
rs776309120
|
|
NM_020320.5(RARS2):c.1512-1G>A
|
|
|
NM_020320.5(RARS2):c.1549C>T (p.Gln517Ter)
|
|
|
NM_020320.5(RARS2):c.1554del (p.Arg519fs)
|
rs754610170
|
|
NM_020320.5(RARS2):c.1568_1569delinsC (p.Ser523fs)
|
|
|
NM_020320.5(RARS2):c.156dup (p.Asp53fs)
|
|
|
NM_020320.5(RARS2):c.1583dup (p.Leu528fs)
|
|
|
NM_020320.5(RARS2):c.1612del (p.Thr538fs)
|
rs781417096
|
|
NM_020320.5(RARS2):c.1629_1630del (p.Asp543fs)
|
|
|
NM_020320.5(RARS2):c.1650+1G>T
|
|
|
NM_020320.5(RARS2):c.176_177del (p.Pro59fs)
|
|
|
NM_020320.5(RARS2):c.1A>G (p.Met1Val)
|
rs774923951
|
|
NM_020320.5(RARS2):c.214C>G (p.Leu72Val)
|
rs1562212838
|
|
NM_020320.5(RARS2):c.233_234del (p.Val78fs)
|
rs1582712331
|
|
NM_020320.5(RARS2):c.277_280del (p.Asn93fs)
|
rs1326705217
|
|
NM_020320.5(RARS2):c.282_285del (p.Arg94fs)
|
rs767056243
|
|
NM_020320.5(RARS2):c.284_285del (p.Glu95fs)
|
rs767056243
|
|
NM_020320.5(RARS2):c.297+1G>C
|
|
|
NM_020320.5(RARS2):c.297+1G>T
|
|
|
NM_020320.5(RARS2):c.333del (p.Lys111fs)
|
|
|
NM_020320.5(RARS2):c.340T>C (p.Leu114=)
|
rs1785581058
|
|
NM_020320.5(RARS2):c.347_348delinsCTTATTAA (p.Ser116delinsThrTyrTer)
|
|
|
NM_020320.5(RARS2):c.36+1G>T
|
|
|
NM_020320.5(RARS2):c.36+2T>A
|
|
|
NM_020320.5(RARS2):c.379_385del (p.Ile127fs)
|
|
|
NM_020320.5(RARS2):c.395+1G>A
|
|
|
NM_020320.5(RARS2):c.42del (p.Arg15fs)
|
rs777942571
|
|
NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)
|
|
|
NM_020320.5(RARS2):c.452-1G>A
|
|
|
NM_020320.5(RARS2):c.45_46del (p.Arg15fs)
|
|
|
NM_020320.5(RARS2):c.474_477del (p.Glu159fs)
|
rs774755297
|
|
NM_020320.5(RARS2):c.488A>G (p.His163Arg)
|
rs1260340118
|
|
NM_020320.5(RARS2):c.535+2T>G
|
|
|
NM_020320.5(RARS2):c.536-1G>A
|
|
|
NM_020320.5(RARS2):c.536-5G>A
|
rs1781141008
|
|
NM_020320.5(RARS2):c.53_60del (p.Asn18fs)
|
|
|
NM_020320.5(RARS2):c.598C>T (p.Gln200Ter)
|
|
|
NM_020320.5(RARS2):c.613-3927C>T
|
rs1410239766
|
|
NM_020320.5(RARS2):c.617del (p.Tyr206fs)
|
|
|
NM_020320.5(RARS2):c.622C>T (p.Gln208Ter)
|
rs1777321509
|
|
NM_020320.5(RARS2):c.633_636del (p.Glu212fs)
|
rs755936301
|
|
NM_020320.5(RARS2):c.699_700insACATC (p.Asp234fs)
|
rs745829550
|
|
NM_020320.5(RARS2):c.70_77del (p.Leu24fs)
|
|
|
NM_020320.5(RARS2):c.716C>G (p.Ser239Ter)
|
rs750319167
|
|
NM_020320.5(RARS2):c.723G>A (p.Trp241Ter)
|
|
|
NM_020320.5(RARS2):c.772-1G>A
|
rs2128057942
|
|
NM_020320.5(RARS2):c.795del (p.Glu265fs)
|
|
|
NM_020320.5(RARS2):c.798T>A (p.Tyr266Ter)
|
|
|
NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)
|
|
|
NM_020320.5(RARS2):c.829C>T (p.Gln277Ter)
|
|
|
NM_020320.5(RARS2):c.839T>G (p.Leu280Ter)
|
rs1256144022
|
|
NM_020320.5(RARS2):c.878+5G>T
|
|
|
NM_020320.5(RARS2):c.928dup (p.Ile310fs)
|
rs1360282089
|
|
NM_020320.5(RARS2):c.963_964del (p.Tyr322fs)
|
rs773838753
|
|
NM_020320.5(RARS2):c.997C>T (p.Arg333Ter)
|
rs927427873
|
|
NM_020320.5(RARS2):c.998del (p.Arg333fs)
|
|
|
NM_020320.5(RARS2):c.9C>A (p.Cys3Ter)
|
rs762495974
|
|