NM_001371623.1(TCOF1):c.3337_3338insCTCT (p.Gln1113fs)
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rs1429628044
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0.00001
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GRCh37/hg19 5q32(chr5:149731885-149738613)x1
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GRCh38/hg38 5q32(chr5:150365489-150381740)x3
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GRCh38/hg38 5q32(chr5:150368321-150396843)x3
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NC_000005.9:g.(?_149775825)_(149778631_?)del
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NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter)
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NM_001371623.1(TCOF1):c.1017dup (p.Glu340fs)
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NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)
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rs1763212034
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NM_001371623.1(TCOF1):c.1075del (p.Leu359fs)
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rs2150687333
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NM_001371623.1(TCOF1):c.109-1del
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rs2150398890
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NM_001371623.1(TCOF1):c.1173del (p.Lys393fs)
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rs2150695587
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NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)
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rs1763331046
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NM_001371623.1(TCOF1):c.1278+1G>A
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rs886041506
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NM_001371623.1(TCOF1):c.1303del (p.Gln435fs)
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NM_001371623.1(TCOF1):c.1328_1350del (p.Ala443fs)
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rs2150704850
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NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs)
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rs1763415490
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NM_001371623.1(TCOF1):c.1358dup (p.Ala454fs)
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rs1554136123
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NM_001371623.1(TCOF1):c.1377_1378del (p.Gly460fs)
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rs1562347303
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NM_001371623.1(TCOF1):c.1389del (p.Ala464fs)
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rs1763437825
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NM_001371623.1(TCOF1):c.1425_1426del (p.Arg476fs)
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rs2150707502
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NM_001371623.1(TCOF1):c.1448_1451del (p.Asp483fs)
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rs1064794474
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NM_001371623.1(TCOF1):c.149A>G (p.Tyr50Cys)
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rs28941769
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NM_001371623.1(TCOF1):c.1504_1505insT (p.Lys502fs)
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rs2150713720
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NM_001371623.1(TCOF1):c.1545del (p.Leu517fs)
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rs2150714943
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NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs)
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rs1581114957
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NM_001371623.1(TCOF1):c.1578del (p.Lys528fs)
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rs2150715791
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NM_001371623.1(TCOF1):c.1622G>A (p.Trp541Ter)
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rs2150716827
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NM_001371623.1(TCOF1):c.1634C>G (p.Ser545Ter)
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NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs)
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rs587776583
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NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs)
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rs587776583
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NM_001371623.1(TCOF1):c.163C>T (p.Gln55Ter)
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rs2150399547
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NM_001371623.1(TCOF1):c.1646del (p.Ser549fs)
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NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs)
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rs1763559019
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NM_001371623.1(TCOF1):c.1824_1825delinsTT (p.Glu609Ter)
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rs2150726644
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NM_001371623.1(TCOF1):c.1923_1924dup (p.Lys642fs)
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rs1554137113
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NM_001371623.1(TCOF1):c.1978C>T (p.Arg660Ter)
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NM_001371623.1(TCOF1):c.1990C>T (p.Gln664Ter)
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rs896979080
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NM_001371623.1(TCOF1):c.1999dup (p.Arg667fs)
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rs2150734334
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NM_001371623.1(TCOF1):c.2039del (p.Pro680fs)
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NM_001371623.1(TCOF1):c.2072_2073del (p.Glu691fs)
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NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs)
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rs2150736647
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NM_001371623.1(TCOF1):c.2112_2116del (p.Glu704fs)
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NM_001371623.1(TCOF1):c.2140C>T (p.Gln714Ter)
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rs769931291
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NM_001371623.1(TCOF1):c.2142+1del
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rs1763794839
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NM_001371623.1(TCOF1):c.2146_2147del (p.Lys716fs)
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rs1554137419
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NM_001371623.1(TCOF1):c.2244dup (p.Pro749fs)
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NM_001371623.1(TCOF1):c.2257C>T (p.Gln753Ter)
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rs1490116413
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NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer)
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rs1554137531
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NM_001371623.1(TCOF1):c.2286_2287del (p.Ser764fs)
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rs886041672
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NM_001371623.1(TCOF1):c.2313_2316del (p.Ser771fs)
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NM_001371623.1(TCOF1):c.2347dup (p.Thr783fs)
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NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer)
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rs1581136492
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NM_001371623.1(TCOF1):c.2384del (p.Ala795fs)
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rs1764409337
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NM_001371623.1(TCOF1):c.2464_2467dup (p.Ser823Ter)
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rs1764427494
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NM_001371623.1(TCOF1):c.2478+5G>T
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NM_001371623.1(TCOF1):c.2490_2499del (p.Val831fs)
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rs1581138487
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NM_001371623.1(TCOF1):c.2553del (p.Lys852fs)
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NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter)
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rs786205575
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NM_001371623.1(TCOF1):c.2675_2678delinsGCTGCCTTGGCT (p.Lys892fs)
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rs1064796835
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NM_001371623.1(TCOF1):c.2689A>T (p.Arg897Ter)
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NM_001371623.1(TCOF1):c.2709del (p.Lys904fs)
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rs2150816107
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NM_001371623.1(TCOF1):c.2722del (p.Arg908fs)
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rs2150816737
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NM_001371623.1(TCOF1):c.2795C>G (p.Ser932Ter)
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rs1554138811
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NM_001371623.1(TCOF1):c.2796_2797del (p.Gly933fs)
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rs1554138819
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NM_001371623.1(TCOF1):c.2819_2822del (p.Asp940fs)
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rs2150820128
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NM_001371623.1(TCOF1):c.2830dup (p.Glu944fs)
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NM_001371623.1(TCOF1):c.2860-1G>A
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NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter)
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NM_001371623.1(TCOF1):c.2962C>T (p.Arg988Ter)
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rs119470017
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NM_001371623.1(TCOF1):c.3031C>T (p.Gln1011Ter)
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rs1554077988
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NM_001371623.1(TCOF1):c.304+1del
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NM_001371623.1(TCOF1):c.304+5G>C
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NM_001371623.1(TCOF1):c.3047-1G>A
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rs2151009927
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NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)
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rs1767064064
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NM_001371623.1(TCOF1):c.3107dup (p.Ser1036fs)
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rs587777314
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NM_001371623.1(TCOF1):c.3133dup (p.Glu1045fs)
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rs1554078461
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NM_001371623.1(TCOF1):c.3163C>T (p.Gln1055Ter)
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NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)
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NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter)
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rs1581203344
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NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)
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NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)
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rs35868965
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NM_001371623.1(TCOF1):c.3608_3609del (p.Leu1203fs)
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NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs)
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rs1581210464
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NM_001371623.1(TCOF1):c.3629del (p.Pro1210fs)
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NM_001371623.1(TCOF1):c.3674dup (p.Leu1226fs)
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NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs)
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rs2151060146
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NM_001371623.1(TCOF1):c.3757_3760del (p.Ala1253fs)
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rs1057517834
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NM_001371623.1(TCOF1):c.376_378+15del
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rs587776584
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NM_001371623.1(TCOF1):c.3784+1G>C
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rs1767850450
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NM_001371623.1(TCOF1):c.3791_3792del (p.Lys1264fs)
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rs1581223107
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NM_001371623.1(TCOF1):c.384_385del (p.Glu128fs)
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rs2150554560
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NM_001371623.1(TCOF1):c.3856del (p.Gln1286fs)
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NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs)
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rs797046037
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NM_001371623.1(TCOF1):c.3889dup (p.Thr1297fs)
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NM_001371623.1(TCOF1):c.390_391del (p.Lys131fs)
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NM_001371623.1(TCOF1):c.3912del (p.Trp1305fs)
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NM_001371623.1(TCOF1):c.3918_3942del (p.Leu1307fs)
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NM_001371623.1(TCOF1):c.3963_3964del (p.Glu1322fs)
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rs1064796606
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NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs)
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rs1554080460
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NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter)
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NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs)
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rs1581224630
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NM_001371623.1(TCOF1):c.4080del (p.Arg1361fs)
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rs2151102857
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NM_001371623.1(TCOF1):c.4132_4133del (p.Val1378fs)
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rs1554080589
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NM_001371623.1(TCOF1):c.4139dup (p.Glu1381fs)
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rs1581224984
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NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter)
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rs1768581035
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NM_001371623.1(TCOF1):c.4210_4214del (p.Lys1404fs)
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rs2151105953
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NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs)
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rs1561540623
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NM_001371623.1(TCOF1):c.422dup (p.His141fs)
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rs587776580
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NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs)
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rs2151108281
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NM_001371623.1(TCOF1):c.4345+2T>C
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rs2151108410
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NM_001371623.1(TCOF1):c.4358_4359del (p.Lys1453fs)
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rs1554081108
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NM_001371623.1(TCOF1):c.4360_4363del (p.Glu1454fs)
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rs1554081112
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NM_001371623.1(TCOF1):c.4364_4368del (p.Lys1455fs)
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rs587776585
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NM_001371623.1(TCOF1):c.4367_4368del (p.Lys1456fs)
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rs587776585
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NM_001371623.1(TCOF1):c.4368del (p.Glu1457fs)
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rs587776585
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NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs)
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rs587776585
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NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
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NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)
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rs587776582
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NM_001371623.1(TCOF1):c.4409_4410del (p.Asp1469_Ser1470insTer)
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rs1554081168
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NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter)
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rs1769042136
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NM_001371623.1(TCOF1):c.462del (p.Lys155fs)
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rs2150555861
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NM_001371623.1(TCOF1):c.497_500del (p.Asn166fs)
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rs587776581
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NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)
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rs1761930554
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NM_001371623.1(TCOF1):c.523G>T (p.Glu175Ter)
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rs1195908562
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NM_001371623.1(TCOF1):c.618_619del (p.Ser206_Ser207insTer)
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rs2150570748
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NM_001371623.1(TCOF1):c.633_634del (p.Val212fs)
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rs1581075356
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NM_001371623.1(TCOF1):c.645del (p.Lys215fs)
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rs2150623353
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NM_001371623.1(TCOF1):c.646_650del (p.Pro216fs)
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rs1762643909
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NM_001371623.1(TCOF1):c.648del (p.Ser217fs)
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rs2150623550
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NM_001371623.1(TCOF1):c.862C>T (p.Arg288Ter)
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rs748805008
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NM_001371623.1(TCOF1):c.985C>T (p.Gln329Ter)
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rs119470016
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NM_001371623.1(TCOF1):c.999_1000insT (p.Lys334Ter)
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