GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
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GRCh37/hg19 12q24.21(chr12:116443463-116457804)x1
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GRCh37/hg19 12q24.21(chr12:116446308-116638445)
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GRCh37/hg19 12q24.21(chr12:116448190-116603459)x3
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GRCh37/hg19 12q24.21(chr12:116456529-116488520)x1
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GRCh37/hg19 12q24.21(chr12:116481669-116569556)x1
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GRCh37/hg19 12q24.21(chr12:116484240-116564043)
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GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1
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GRCh37/hg19 12q24.21(chr12:116523800-116581474)
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GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
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GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1
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GRCh37/hg19 12q24.21(chr12:116535307-116557569)x1
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GRCh37/hg19 12q24.21(chr12:116622732-116685976)
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GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
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GRCh37/hg19 12q24.21(chr12:116693044-116725907)x1
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GRCh38/hg38 12q24.21(chr12:115996285-116022906)x3
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GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
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NC_000012.11:g.(116460407_116534473)_(116549318_116675272)del
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NC_000012.11:g.(?_116418535)_(116420428_?)del
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NC_000012.11:g.(?_116440808)_(116440907_?)del
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NC_000012.11:g.(?_116534454)_(116549337_?)del
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NC_000012.11:g.(?_116534474)_(116675510_?)del
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NC_000012.12:g.(?_115961246)_(116096772_?)del
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NC_000012.12:g.(?_115982183)_(116022795_?)del
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NC_000012.12:g.115991433_115991435delinsA
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rs1565997261
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NC_000012.12:g.116022564_116022565delinsAT
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rs1555250044
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NM_015335.5(MED13L):c.1077_1093del (p.Met359fs)
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rs1879651226
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NM_015335.5(MED13L):c.1108_1111dup (p.Lys371fs)
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rs2137415111
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NM_015335.5(MED13L):c.1109_1110del (p.Pro370fs)
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rs1566011496
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NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
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rs2499931468
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NM_015335.5(MED13L):c.1186del (p.Met396fs)
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rs1064794013
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NM_015335.5(MED13L):c.124dup (p.Asp42fs)
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rs869312875
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NM_015335.5(MED13L):c.1250dup (p.Thr418fs)
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NM_015335.5(MED13L):c.1280+1G>A
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rs2499924697
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NM_015335.5(MED13L):c.1318C>T (p.Arg440Ter)
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rs1205283728
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NM_015335.5(MED13L):c.1336C>T (p.Gln446Ter)
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rs886041503
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NM_015335.5(MED13L):c.1361C>G (p.Ser454Ter)
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rs1555248020
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NM_015335.5(MED13L):c.1405dup (p.Thr469fs)
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rs2137386388
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NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter)
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rs1879225327
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NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter)
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rs2499913247
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NM_015335.5(MED13L):c.1496dup (p.Met499fs)
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rs1879220710
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NM_015335.5(MED13L):c.1516C>T (p.Gln506Ter)
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rs2137385850
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NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter)
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rs2137385115
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NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter)
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rs1555247936
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NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)
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rs869025286
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NM_015335.5(MED13L):c.173T>A (p.Leu58Ter)
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rs1870211191
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NM_015335.5(MED13L):c.1744del (p.Leu582fs)
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rs2499912120
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NM_015335.5(MED13L):c.1852dup (p.Tyr618fs)
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rs1879198833
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NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs)
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rs1555247853
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NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs)
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rs1592941857
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NM_015335.5(MED13L):c.1971del (p.Asp657fs)
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rs1555247805
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NM_015335.5(MED13L):c.1992dup (p.Glu665fs)
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rs1057518424
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NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs)
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rs1555247800
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NM_015335.5(MED13L):c.1A>G (p.Met1Val)
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rs1131691818
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NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter)
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rs1555247699
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NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)
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rs1592940794
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NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
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rs2137378964
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NM_015335.5(MED13L):c.2090_2091insGAGCCACT (p.Asp697fs)
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rs1879125566
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NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter)
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rs1555247672
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NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter)
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rs2499906294
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NM_015335.5(MED13L):c.215G>A (p.Trp72Ter)
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NM_015335.5(MED13L):c.2239-2A>G
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rs1555247469
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NM_015335.5(MED13L):c.2316_2317del (p.Met772fs)
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rs1566005476
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NM_015335.5(MED13L):c.2318del (p.Ser773fs)
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rs1879044510
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NM_015335.5(MED13L):c.2320del (p.Ile774fs)
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rs2137373056
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NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs)
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rs1879042937
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NM_015335.5(MED13L):c.2399dup (p.Thr801fs)
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rs1135401766
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NM_015335.5(MED13L):c.2504del (p.Pro835fs)
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rs1555246952
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NM_015335.5(MED13L):c.2524C>T (p.Arg842Ter)
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rs1064793483
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NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
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rs1555246154
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NM_015335.5(MED13L):c.2584C>T (p.Gln862Ter)
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rs2499875454
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NM_015335.5(MED13L):c.2590A>T (p.Met864Leu)
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rs886039599
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NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)
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rs1555246145
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NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)
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rs1878458116
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NM_015335.5(MED13L):c.2636del (p.Pro879fs)
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NM_015335.5(MED13L):c.263G>A (p.Trp88Ter)
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rs1870202051
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NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer)
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rs2499874839
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NM_015335.5(MED13L):c.2779_2782dup (p.Glu928fs)
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NM_015335.5(MED13L):c.278del (p.Asn93fs)
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rs2500016820
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NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs)
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rs1064796611
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NM_015335.5(MED13L):c.2930C>T (p.Ala977Val)
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rs1131691671
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NM_015335.5(MED13L):c.293_294del (p.Ile98fs)
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rs1870200055
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NM_015335.5(MED13L):c.2950C>T (p.Gln984Ter)
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rs1376289620
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NM_015335.5(MED13L):c.2996+1G>A
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rs1878413465
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NM_015335.5(MED13L):c.311-1G>A
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rs1219697193
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NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
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rs2137307992
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NM_015335.5(MED13L):c.3191dup (p.Thr1065fs)
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NM_015335.5(MED13L):c.319dup (p.Glu107fs)
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rs2137899583
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NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter)
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rs2137307819
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NM_015335.5(MED13L):c.329G>A (p.Trp110Ter)
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rs2137899543
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NM_015335.5(MED13L):c.3309del (p.Glu1105fs)
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rs2137307119
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NM_015335.5(MED13L):c.3381del (p.Phe1128fs)
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rs2499856919
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NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)
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rs2499856913
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NM_015335.5(MED13L):c.3385_3391delinsAAA (p.Asp1129fs)
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NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
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rs2499856672
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NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter)
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rs1555245108
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NM_015335.5(MED13L):c.34del (p.Ala12fs)
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rs1593238375
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NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs)
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rs2499856135
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NM_015335.5(MED13L):c.3760_3761del (p.Leu1254fs)
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rs2137305263
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NM_015335.5(MED13L):c.3765del (p.Cys1256fs)
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rs147976828
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NM_015335.5(MED13L):c.3779del (p.Ser1260fs)
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rs2499855262
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NM_015335.5(MED13L):c.379del (p.His127fs)
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NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs)
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rs1555244975
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NM_015335.5(MED13L):c.395+1G>A
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rs1874072309
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NM_015335.5(MED13L):c.3961C>T (p.Gln1321Ter)
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rs2499842872
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NM_015335.5(MED13L):c.4003C>T (p.Gln1335Ter)
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NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)
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rs2499842648
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NM_015335.5(MED13L):c.401dup (p.Met135fs)
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rs1593039493
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NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter)
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rs2137290161
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NM_015335.5(MED13L):c.4051C>T (p.Gln1351Ter)
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rs1057524341
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NM_015335.5(MED13L):c.4060C>T (p.Gln1354Ter)
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rs1565995054
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NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)
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rs1592919048
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NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter)
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rs1565995034
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NM_015335.5(MED13L):c.4083del (p.Gln1361fs)
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rs1877748039
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NM_015335.5(MED13L):c.4087del (p.His1363fs)
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rs2499842382
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NM_015335.5(MED13L):c.4108_4114+3del
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rs2499842261
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NM_015335.5(MED13L):c.4120del (p.Glu1374fs)
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rs1877698147
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NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter)
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rs1877697992
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NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter)
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rs2499839774
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NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter)
|
rs2137287115
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NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs)
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rs1877686983
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NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter)
|
rs1877685759
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NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg)
|
rs1555243607
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NM_015335.5(MED13L):c.4403dup (p.Thr1470fs)
|
rs1131691764
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NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs)
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rs1592915896
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NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter)
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rs1877535811
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NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)
|
rs1872666696
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NM_015335.5(MED13L):c.4452del (p.Phe1484fs)
|
rs1555243582
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NM_015335.5(MED13L):c.4467_4473del (p.Ser1489fs)
|
rs1877531485
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NM_015335.5(MED13L):c.4471G>T (p.Glu1491Ter)
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|
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NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)
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rs2499827975
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NM_015335.5(MED13L):c.4577del (p.Pro1526fs)
|
rs1057518262
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NM_015335.5(MED13L):c.4609C>T (p.Gln1537Ter)
|
rs1555243400
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NM_015335.5(MED13L):c.4622del (p.Thr1541fs)
|
rs1877476585
|
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NM_015335.5(MED13L):c.4715del (p.Asn1572fs)
|
rs2499827000
|
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NM_015335.5(MED13L):c.4716del (p.Pro1573fs)
|
rs1064796113
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NM_015335.5(MED13L):c.475A>T (p.Lys159Ter)
|
rs2500281214
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NM_015335.5(MED13L):c.480-1G>T
|
rs869025288
|
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NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter)
|
rs1877459454
|
|
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs)
|
rs1877448690
|
|
NM_015335.5(MED13L):c.4956-2A>C
|
rs1057518705
|
|
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs)
|
rs1877403231
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NM_015335.5(MED13L):c.5000_5001del (p.Ser1667fs)
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|
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NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
|
rs2499823119
|
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NM_015335.5(MED13L):c.5083dup (p.Ser1695fs)
|
rs1555243086
|
|
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)
|
rs1555243059
|
|
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter)
|
rs1135401765
|
|
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs)
|
rs2137264830
|
|
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)
|
rs886041448
|
|
NM_015335.5(MED13L):c.5285del (p.Leu1762fs)
|
rs886043314
|
|
NM_015335.5(MED13L):c.5364+1dup
|
rs1877270718
|
|
NM_015335.5(MED13L):c.5365-1G>A
|
rs1876893450
|
|
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn)
|
rs2137446876
|
|
NM_015335.5(MED13L):c.5444del (p.Thr1815fs)
|
rs879255407
|
|
NM_015335.5(MED13L):c.5471del (p.Asn1824fs)
|
rs2499798910
|
|
NM_015335.5(MED13L):c.5502del (p.His1834fs)
|
rs1565987758
|
|
NM_015335.5(MED13L):c.553C>T (p.Gln185Ter)
|
rs2137446910
|
|
NM_015335.5(MED13L):c.5545G>T (p.Glu1849Ter)
|
|
|
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)
|
rs139063441
|
|
NM_015335.5(MED13L):c.5588+1G>A
|
rs1135401810
|
|
NM_015335.5(MED13L):c.5589-1G>A
|
rs1064796543
|
|
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)
|
rs1876853109
|
|
NM_015335.5(MED13L):c.5751_5752insTACTACA (p.Glu1918fs)
|
|
|
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs)
|
rs2499974537
|
|
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
|
rs1876629983
|
|
NM_015335.5(MED13L):c.57del (p.Asn20fs)
|
|
|
NM_015335.5(MED13L):c.5818del (p.Ala1940fs)
|
rs2499974370
|
|
NM_015335.5(MED13L):c.5866C>T (p.Gln1956Ter)
|
rs1565985681
|
|
NM_015335.5(MED13L):c.5920C>T (p.Arg1974Ter)
|
rs2499969945
|
|
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter)
|
rs2137223723
|
|
NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs)
|
rs869025289
|
|
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
|
rs1876520009
|
|
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)
|
rs2499969575
|
|
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter)
|
rs1029377279
|
|
NM_015335.5(MED13L):c.6039del (p.Asn2014fs)
|
rs2499969554
|
|
NM_015335.5(MED13L):c.6073dup (p.Met2025fs)
|
rs1131691386
|
|
NM_015335.5(MED13L):c.607dup (p.Ser203fs)
|
rs869025291
|
|
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)
|
rs869025287
|
|
NM_015335.5(MED13L):c.6164del (p.Pro2055fs)
|
rs2499964381
|
|
NM_015335.5(MED13L):c.6195dup (p.Gly2066fs)
|
rs2137216530
|
|
NM_015335.5(MED13L):c.6226-1G>C
|
rs1876150289
|
|
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
|
rs2499956505
|
|
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs)
|
rs2499956501
|
|
NM_015335.5(MED13L):c.626-1_626dup
|
rs2499946313
|
|
NM_015335.5(MED13L):c.626-2A>G
|
rs1555249664
|
|
NM_015335.5(MED13L):c.6260del (p.Pro2087fs)
|
rs1565982697
|
|
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu)
|
rs1876147349
|
|
NM_015335.5(MED13L):c.6277C>T (p.Gln2093Ter)
|
rs2499956371
|
|
NM_015335.5(MED13L):c.627dup (p.Leu210fs)
|
rs1879959408
|
|
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr)
|
rs1555240376
|
|
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
|
rs1555240376
|
|
NM_015335.5(MED13L):c.6284dup (p.Ala2096fs)
|
rs886041624
|
|
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter)
|
rs1555240361
|
|
NM_015335.5(MED13L):c.6331del (p.Gln2111fs)
|
rs2499956196
|
|
NM_015335.5(MED13L):c.6335G>A (p.Trp2112Ter)
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rs2499956168
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NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter)
|
rs1555240359
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NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter)
|
rs1876139497
|
|
NM_015335.5(MED13L):c.6372C>A (p.Cys2124Ter)
|
|
|
NM_015335.5(MED13L):c.6388-2A>G
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rs1592891007
|
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NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter)
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rs1555239936
|
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NM_015335.5(MED13L):c.6427G>T (p.Glu2143Ter)
|
|
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NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)
|
rs869312707
|
|
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu)
|
rs1565981137
|
|
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter)
|
rs1879953298
|
|
NM_015335.5(MED13L):c.73-1G>A
|
rs1555225472
|
|
NM_015335.5(MED13L):c.747_748del (p.Lys250fs)
|
rs1592953902
|
|
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)
|
rs28940309
|
|
NM_015335.5(MED13L):c.760_1175+967del
|
|
|
NM_015335.5(MED13L):c.82dup (p.Thr28fs)
|
rs1870221353
|
|
NM_015335.5(MED13L):c.864_865del (p.Gln289fs)
|
|
|
NM_015335.5(MED13L):c.878del (p.Pro293fs)
|
rs1555249561
|
|
t(12;19)(q24.21;q12)
|
|
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