NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)
|
rs104893940
|
0.00003
|
NM_000045.4(ARG1):c.365G>A (p.Trp122Ter)
|
rs104893947
|
0.00002
|
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)
|
rs745624953
|
0.00002
|
NM_000045.4(ARG1):c.612C>A (p.Asp204Glu)
|
rs775435820
|
0.00002
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
NM_000045.4(ARG1):c.372dup (p.Ala125fs)
|
rs776939220
|
0.00001
|
NM_000045.4(ARG1):c.413G>T (p.Gly138Val)
|
rs104893943
|
0.00001
|
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)
|
rs767219084
|
0.00001
|
NM_000045.4(ARG1):c.466-1G>C
|
rs1064794165
|
0.00001
|
NM_000045.4(ARG1):c.57+1G>A
|
rs587776539
|
0.00001
|
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)
|
rs104893944
|
0.00001
|
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)
|
rs104893948
|
0.00001
|
NM_000045.4(ARG1):c.93del (p.Arg32fs)
|
rs755975244
|
0.00001
|
NC_000006.11:g.(?_131900217)_(131902528_?)del
|
|
|
NC_000006.12:g.(?_131576653)_(131583918_?)del
|
|
|
NM_000045.4(ARG1):c.124G>T (p.Glu42Ter)
|
rs748744950
|
|
NM_000045.4(ARG1):c.124_125insT (p.Glu42fs)
|
|
|
NM_000045.4(ARG1):c.129del (p.Glu44fs)
|
rs1169538148
|
|
NM_000045.4(ARG1):c.130+1G>A
|
rs113767658
|
|
NM_000045.4(ARG1):c.142A>T (p.Lys48Ter)
|
rs1773783170
|
|
NM_000045.4(ARG1):c.157del (p.Leu53fs)
|
|
|
NM_000045.4(ARG1):c.159_163del (p.Pro54fs)
|
|
|
NM_000045.4(ARG1):c.189del (p.Gln65fs)
|
rs1562356664
|
|
NM_000045.4(ARG1):c.232dup (p.Glu78fs)
|
|
|
NM_000045.4(ARG1):c.23T>A (p.Ile8Lys)
|
rs149310631
|
|
NM_000045.4(ARG1):c.263_266del (p.Lys88fs)
|
rs1773790103
|
|
NM_000045.4(ARG1):c.272del (p.Gly91fs)
|
rs796051923
|
|
NM_000045.4(ARG1):c.272dup (p.Arg92fs)
|
rs796051923
|
|
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)
|
rs1554249332
|
|
NM_000045.4(ARG1):c.305+1G>A
|
rs112432420
|
|
NM_000045.4(ARG1):c.326_353del (p.Ser109fs)
|
|
|
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)
|
rs28941474
|
|
NM_000045.4(ARG1):c.336dup (p.Arg113fs)
|
rs1773906992
|
|
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)
|
|
|
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)
|
rs2114539596
|
|
NM_000045.4(ARG1):c.371A>G (p.Asp124Gly)
|
|
|
NM_000045.4(ARG1):c.401C>T (p.Thr134Ile)
|
|
|
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)
|
rs1451472748
|
|
NM_000045.4(ARG1):c.425del (p.Gly142fs)
|
rs1585420294
|
|
NM_000045.4(ARG1):c.434T>A (p.Val145Glu)
|
rs1773915383
|
|
NM_000045.4(ARG1):c.435_438dup (p.Phe147fs)
|
|
|
NM_000045.4(ARG1):c.459dup (p.Gly154fs)
|
|
|
NM_000045.4(ARG1):c.464dup (p.Ile156fs)
|
rs1773916575
|
|
NM_000045.4(ARG1):c.466-2A>G
|
rs1554251045
|
|
NM_000045.4(ARG1):c.491G>A (p.Trp164Ter)
|
|
|
NM_000045.4(ARG1):c.492G>A (p.Trp164Ter)
|
rs146625637
|
|
NM_000045.4(ARG1):c.493dup (p.Val165fs)
|
|
|
NM_000045.4(ARG1):c.50del (p.Lys17fs)
|
rs2114507395
|
|
NM_000045.4(ARG1):c.547_549del (p.Asp183del)
|
rs2114545947
|
|
NM_000045.4(ARG1):c.560+2T>C
|
rs2114546081
|
|
NM_000045.4(ARG1):c.57+1G>T
|
|
|
NM_000045.4(ARG1):c.577_578del (p.Leu193fs)
|
rs766868484
|
|
NM_000045.4(ARG1):c.594_595dup (p.Ser199fs)
|
|
|
NM_000045.4(ARG1):c.603_604del (p.Glu202fs)
|
rs2114547911
|
|
NM_000045.4(ARG1):c.603del (p.Glu202fs)
|
|
|
NM_000045.4(ARG1):c.640del (p.Glu214fs)
|
|
|
NM_000045.4(ARG1):c.646_649del (p.Leu216fs)
|
rs756080885
|
|
NM_000045.4(ARG1):c.666-2A>C
|
|
|
NM_000045.4(ARG1):c.673del (p.Arg225fs)
|
|
|
NM_000045.4(ARG1):c.684del (p.His228_Leu229insTer)
|
rs2114549176
|
|
NM_000045.4(ARG1):c.700G>C (p.Asp234His)
|
|
|
NM_000045.4(ARG1):c.703G>C (p.Gly235Arg)
|
rs104893948
|
|
NM_000045.4(ARG1):c.707dup (p.Asp237fs)
|
|
|
NM_000045.4(ARG1):c.766G>T (p.Glu256Ter)
|
rs2114549604
|
|
NM_000045.4(ARG1):c.78del (p.Gly27fs)
|
rs2114519176
|
|
NM_000045.4(ARG1):c.802+1G>A
|
|
|
NM_000045.4(ARG1):c.807_811del (p.Leu270fs)
|
rs1562361751
|
|
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)
|
rs1326930389
|
|
NM_000045.4(ARG1):c.811_812del (p.Ser271fs)
|
rs1585429783
|
|
NM_000045.4(ARG1):c.819del (p.Asp274fs)
|
rs2114551021
|
|
NM_000045.4(ARG1):c.820_823dup (p.Ile275fs)
|
rs1562361762
|
|
NM_000045.4(ARG1):c.839del (p.Pro280fs)
|
rs2114551140
|
|
NM_000045.4(ARG1):c.844del (p.Leu282fs)
|
rs1562361837
|
|
NM_000045.4(ARG1):c.869C>G (p.Thr290Ser)
|
rs104893942
|
|
NM_000045.4(ARG1):c.877del (p.Thr292_Val293insTer)
|
|
|
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)
|
rs866970619
|
|
NM_000045.4(ARG1):c.938del (p.Lys313fs)
|
rs1554251356
|
|
NM_015979.4(MED23):c.4095+4355_4095+4358del
|
|
|