NM_198053.3(CD247):c.301C>T (p.Gln101Ter)
|
rs55729925
|
0.00021
|
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)
|
rs193922641
|
0.00004
|
NM_000215.4(JAK3):c.2680+3G>C
|
rs749481781
|
0.00003
|
NM_002185.5(IL7R):c.221+2T>G
|
rs200044623
|
0.00002
|
NM_002185.5(IL7R):c.538-1G>A
|
rs1315265916
|
0.00002
|
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter)
|
rs267605358
|
0.00001
|
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter)
|
rs1011307501
|
0.00001
|
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)
|
rs137852625
|
0.00001
|
NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter)
|
rs1198251679
|
0.00001
|
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys)
|
rs761583890
|
0.00001
|
NM_000215.4(JAK3):c.308G>A (p.Arg103His)
|
rs774202259
|
0.00001
|
NM_000215.4(JAK3):c.3208-1G>A
|
rs1160856608
|
0.00001
|
NM_000732.6(CD3D):c.274+5G>A
|
rs730880296
|
0.00001
|
NM_000732.6(CD3D):c.279C>A (p.Cys93Ter)
|
rs111033581
|
0.00001
|
NM_000733.4(CD3E):c.490C>T (p.Arg164Ter)
|
rs201840561
|
0.00001
|
NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)
|
rs141698985
|
0.00001
|
NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)
|
rs201559094
|
0.00001
|
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)
|
rs587778405
|
0.00001
|
NM_002185.5(IL7R):c.675C>A (p.Tyr225Ter)
|
rs1390410878
|
0.00001
|
NM_002185.5(IL7R):c.83-1G>A
|
rs200803157
|
0.00001
|
NM_002185.5(IL7R):c.83-2A>T
|
rs886060531
|
0.00001
|
NM_198053.3(CD247):c.51dup (p.Ile18fs)
|
rs1553238837
|
0.00001
|
NC_000001.10:g.(?_167487625)_(167487702_?)del
|
|
|
NC_000005.10:g.(?_35860832)_(35871233_?)del
|
|
|
NC_000005.10:g.(?_35867286)_(35867483_?)del
|
|
|
NC_000005.9:g.(?_35857060)_(35857181_?)del
|
|
|
NC_000011.9:g.(?_117856768)_(118972385_?)del
|
|
|
NC_000011.9:g.(?_118175668)_(118179176_?)del
|
|
|
NC_000016.10:g.(?_30066878)_(30188596_?)del
|
|
|
NC_000016.10:g.(?_30066878)_(30188984_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)del
|
|
|
NC_000016.9:g.(?_30196531)_30199897del
|
|
|
NC_000019.9:g.(?_17940897)_(17943758_?)del
|
|
|
NC_000023.10:g.(?_70328107)_(70328216_?)del
|
|
|
NC_000023.10:g.(?_70330774)_(70331695_?)del
|
|
|
NC_000023.11:g.(?_71108277)_(71108346_?)del
|
|
|
NM_000206.3(IL2RG):c.100G>T (p.Glu34Ter)
|
rs1556331272
|
|
NM_000206.3(IL2RG):c.115+2T>C
|
rs2147751760
|
|
NM_000206.3(IL2RG):c.126del (p.Thr43fs)
|
|
|
NM_000206.3(IL2RG):c.130_139del (p.Thr44fs)
|
|
|
NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs)
|
rs2092262555
|
|
NM_000206.3(IL2RG):c.148del (p.Leu50fs)
|
rs2147751090
|
|
NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg)
|
rs1602289649
|
|
NM_000206.3(IL2RG):c.202G>A (p.Glu68Lys)
|
rs1057520644
|
|
NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter)
|
rs1282558220
|
|
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)
|
rs2147750927
|
|
NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer)
|
rs1602289631
|
|
NM_000206.3(IL2RG):c.268_269del (p.Trp90fs)
|
|
|
NM_000206.3(IL2RG):c.269+1G>T
|
rs2092262300
|
|
NM_000206.3(IL2RG):c.270-15A>G
|
rs886039387
|
|
NM_000206.3(IL2RG):c.270-1G>T
|
rs193922346
|
|
NM_000206.3(IL2RG):c.270G>A (p.Trp90Ter)
|
rs1569480047
|
|
NM_000206.3(IL2RG):c.27_51del (p.Ser10fs)
|
rs2147751892
|
|
NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter)
|
rs775704953
|
|
NM_000206.3(IL2RG):c.294del (p.Val99fs)
|
rs2092261618
|
|
NM_000206.3(IL2RG):c.302_384dup (p.Val129fs)
|
rs2147750252
|
|
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)
|
rs193922347
|
|
NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter)
|
rs2147750382
|
|
NM_000206.3(IL2RG):c.34_35del (p.Leu12fs)
|
|
|
NM_000206.3(IL2RG):c.350_351insA (p.Gln118fs)
|
|
|
NM_000206.3(IL2RG):c.352C>T (p.Gln118Ter)
|
|
|
NM_000206.3(IL2RG):c.359dup (p.Glu121fs)
|
rs2147750311
|
|
NM_000206.3(IL2RG):c.376del (p.Gln126fs)
|
|
|
NM_000206.3(IL2RG):c.430C>T (p.Gln144Ter)
|
rs1602289411
|
|
NM_000206.3(IL2RG):c.455-2A>C
|
rs2092260728
|
|
NM_000206.3(IL2RG):c.522G>A (p.Trp174Ter)
|
rs1556330568
|
|
NM_000206.3(IL2RG):c.52del (p.Leu18fs)
|
rs2147751877
|
|
NM_000206.3(IL2RG):c.546_549del (p.Cys182fs)
|
rs2147749701
|
|
NM_000206.3(IL2RG):c.548del (p.Leu183fs)
|
rs1556330562
|
|
NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter)
|
rs2092260520
|
|
NM_000206.3(IL2RG):c.562C>T (p.Gln188Ter)
|
rs1556330552
|
|
NM_000206.3(IL2RG):c.575_578del (p.Asp192fs)
|
|
|
NM_000206.3(IL2RG):c.594+1G>A
|
|
|
NM_000206.3(IL2RG):c.594+2_594+3del
|
rs1602289183
|
|
NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter)
|
rs2147748363
|
|
NM_000206.3(IL2RG):c.602C>G (p.Ser201Ter)
|
rs1556330286
|
|
NM_000206.3(IL2RG):c.603_604del (p.Val202fs)
|
rs2092258288
|
|
NM_000206.3(IL2RG):c.612T>A (p.Tyr204Ter)
|
rs2147748344
|
|
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)
|
rs111033618
|
|
NM_000206.3(IL2RG):c.670C>T (p.Arg224Trp)
|
rs869320658
|
|
NM_000206.3(IL2RG):c.676C>T (p.Arg226Cys)
|
rs869320659
|
|
NM_000206.3(IL2RG):c.677G>A (p.Arg226His)
|
rs869320660
|
|
NM_000206.3(IL2RG):c.713G>A (p.Ser238Asn)
|
rs2147748142
|
|
NM_000206.3(IL2RG):c.720G>A (p.Trp240Ter)
|
rs1556330234
|
|
NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter)
|
rs2147748109
|
|
NM_000206.3(IL2RG):c.758-1G>A
|
rs886042051
|
|
NM_000206.3(IL2RG):c.758-2A>G
|
rs2147747509
|
|
NM_000206.3(IL2RG):c.79dup (p.Ile27fs)
|
|
|
NM_000206.3(IL2RG):c.816_819del (p.Ile273fs)
|
rs2147747375
|
|
NM_000206.3(IL2RG):c.829del (p.Leu277fs)
|
|
|
NM_000206.3(IL2RG):c.854G>A (p.Arg285Gln)
|
rs111033617
|
|
NM_000206.3(IL2RG):c.855-1G>A
|
rs1556329822
|
|
NM_000206.3(IL2RG):c.855-2A>C
|
rs2147746826
|
|
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)
|
rs137852508
|
|
NM_000206.3(IL2RG):c.865dup (p.Arg289fs)
|
|
|
NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln)
|
rs137852510
|
|
NM_000206.3(IL2RG):c.879del (p.Lys294fs)
|
|
|
NM_000206.3(IL2RG):c.903_910del (p.Glu302fs)
|
rs1556329779
|
|
NM_000206.3(IL2RG):c.958_959del (p.Leu321fs)
|
rs1602288051
|
|
NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)
|
|
|
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)
|
rs1064793347
|
|
NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer)
|
rs1568404443
|
|
NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter)
|
rs2094238720
|
|
NM_000215.4(JAK3):c.101del (p.Gly34fs)
|
|
|
NM_000215.4(JAK3):c.1142+1G>C
|
rs1232129873
|
|
NM_000215.4(JAK3):c.1142+1G>T
|
|
|
NM_000215.4(JAK3):c.115del (p.Gln39fs)
|
rs755706305
|
|
NM_000215.4(JAK3):c.115dup (p.Gln39fs)
|
|
|
NM_000215.4(JAK3):c.1165del (p.Leu389fs)
|
|
|
NM_000215.4(JAK3):c.1178dup (p.Ser394fs)
|
rs2094235007
|
|
NM_000215.4(JAK3):c.123_126del (p.Phe43fs)
|
|
|
NM_000215.4(JAK3):c.1255-1G>A
|
|
|
NM_000215.4(JAK3):c.1280del (p.Gly427fs)
|
|
|
NM_000215.4(JAK3):c.1284C>A (p.Cys428Ter)
|
|
|
NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)
|
rs137852626
|
|
NM_000215.4(JAK3):c.1383dup (p.Leu462fs)
|
rs2147691124
|
|
NM_000215.4(JAK3):c.1432dup (p.Arg478fs)
|
rs769633203
|
|
NM_000215.4(JAK3):c.1476del (p.His492fs)
|
|
|
NM_000215.4(JAK3):c.1569G>A (p.Trp523Ter)
|
|
|
NM_000215.4(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs)
|
rs1599873591
|
|
NM_000215.4(JAK3):c.1701+1G>A
|
|
|
NM_000215.4(JAK3):c.1701+2T>A
|
rs2147687373
|
|
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)
|
rs193922361
|
|
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)
|
|
|
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
|
rs886039394
|
|
NM_000215.4(JAK3):c.1786+3G>T
|
|
|
NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter)
|
rs149316157
|
|
NM_000215.4(JAK3):c.1869G>A (p.Trp623Ter)
|
|
|
NM_000215.4(JAK3):c.1888C>T (p.Gln630Ter)
|
|
|
NM_000215.4(JAK3):c.1951C>T (p.Arg651Trp)
|
|
|
NM_000215.4(JAK3):c.2028del (p.Ala677fs)
|
|
|
NM_000215.4(JAK3):c.2263del (p.Leu754_Leu755insTer)
|
|
|
NM_000215.4(JAK3):c.2272C>T (p.Gln758Ter)
|
|
|
NM_000215.4(JAK3):c.2319_2325dup (p.Asp776delinsHisSerTer)
|
|
|
NM_000215.4(JAK3):c.2324G>A (p.Arg775His)
|
rs1251299279
|
|
NM_000215.4(JAK3):c.2350G>A (p.Asp784Asn)
|
|
|
NM_000215.4(JAK3):c.235_242dup (p.Trp81fs)
|
|
|
NM_000215.4(JAK3):c.2408G>A (p.Trp803Ter)
|
|
|
NM_000215.4(JAK3):c.2419C>T (p.Gln807Ter)
|
|
|
NM_000215.4(JAK3):c.2477C>G (p.Ser826Ter)
|
|
|
NM_000215.4(JAK3):c.2523_2532del (p.Arg840_Tyr841insTer)
|
|
|
NM_000215.4(JAK3):c.2552del (p.Leu851fs)
|
|
|
NM_000215.4(JAK3):c.2680+89G>A
|
|
|
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
|
|
|
NM_000215.4(JAK3):c.2743C>T (p.Gln915Ter)
|
|
|
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
|
|
|
NM_000215.4(JAK3):c.2787T>G (p.Tyr929Ter)
|
|
|
NM_000215.4(JAK3):c.2979G>A (p.Trp993Ter)
|
|
|
NM_000215.4(JAK3):c.2989G>T (p.Glu997Ter)
|
rs1568400897
|
|
NM_000215.4(JAK3):c.3008TCT[1] (p.Phe1004del)
|
|
|
NM_000215.4(JAK3):c.3032G>A (p.Trp1011Ter)
|
rs2147674587
|
|
NM_000215.4(JAK3):c.3071_3072delinsAA (p.Cys1024Ter)
|
|
|
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
|
|
|
NM_000215.4(JAK3):c.3103del (p.Leu1035fs)
|
rs1424732031
|
|
NM_000215.4(JAK3):c.3371_3372insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGCCCTGGGCCGCAGCGCAGCCGCGCAAACCACCACCCGCGGCCACCATGGCCGGACAGTATAATTTCCCCTGTCCTTTTC (p.Ser1124_Ter1125insPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuGlyArgSerAlaAlaAlaGlnThrThrThrArgGlyHisHisGlyArgThrValTer)
|
|
|
NM_000215.4(JAK3):c.523C>T (p.Arg175Ter)
|
|
|
NM_000215.4(JAK3):c.548del (p.Glu183fs)
|
|
|
NM_000215.4(JAK3):c.578G>A (p.Cys193Tyr)
|
rs1467075214
|
|
NM_000215.4(JAK3):c.607C>T (p.Gln203Ter)
|
|
|
NM_000215.4(JAK3):c.664_670del (p.Arg222fs)
|
|
|
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)
|
rs193922364
|
|
NM_000215.4(JAK3):c.722_723insAGGA (p.Asp241fs)
|
|
|
NM_000215.4(JAK3):c.862-2A>G
|
rs1057523762
|
|
NM_000215.4(JAK3):c.904_908dup (p.Lys304fs)
|
|
|
NM_000215.4(JAK3):c.936dup (p.Gly313fs)
|
|
|
NM_000215.4(JAK3):c.958_959del (p.Val320fs)
|
|
|
NM_000215.4(JAK3):c.970_973del (p.Asp324fs)
|
|
|
NM_000732.6(CD3D):c.128G>A (p.Trp43Ter)
|
rs1591278347
|
|
NM_000732.6(CD3D):c.15del (p.Leu7fs)
|
|
|
NM_000732.6(CD3D):c.18dup (p.Leu7fs)
|
|
|
NM_000732.6(CD3D):c.202C>T (p.Arg68Ter)
|
rs111033580
|
|
NM_000732.6(CD3D):c.237C>G (p.Tyr79Ter)
|
|
|
NM_000732.6(CD3D):c.271C>T (p.Arg91Ter)
|
|
|
NM_000732.6(CD3D):c.40_41dup (p.Leu15fs)
|
|
|
NM_000732.6(CD3D):c.51_52del (p.Gln18fs)
|
rs1180673589
|
|
NM_000732.6(CD3D):c.9_10del (p.His3fs)
|
|
|
NM_000733.4(CD3E):c.131_132del (p.Thr44fs)
|
|
|
NM_000733.4(CD3E):c.190A>T (p.Lys64Ter)
|
|
|
NM_000733.4(CD3E):c.261_262del (p.Ser88fs)
|
rs1249197356
|
|
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
|
|
|
NM_000733.4(CD3E):c.428del (p.Gly143fs)
|
|
|
NM_000733.4(CD3E):c.472A>T (p.Lys158Ter)
|
|
|
NM_000733.4(CD3E):c.49+1G>A
|
|
|
NM_000733.4(CD3E):c.49+1G>C
|
|
|
NM_002185.5(IL7R):c.126C>G (p.Cys42Trp)
|
rs1759788196
|
|
NM_002185.5(IL7R):c.177del (p.Phe59fs)
|
|
|
NM_002185.5(IL7R):c.190_193dup (p.Asn65fs)
|
|
|
NM_002185.5(IL7R):c.214G>T (p.Glu72Ter)
|
|
|
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)
|
rs193922640
|
|
NM_002185.5(IL7R):c.291_294del (p.Lys97fs)
|
rs1554066684
|
|
NM_002185.5(IL7R):c.355A>T (p.Lys119Ter)
|
rs1448018291
|
|
NM_002185.5(IL7R):c.361dup (p.Ile121fs)
|
rs869312857
|
|
NM_002185.5(IL7R):c.37del (p.Ser13fs)
|
rs1759660930
|
|
NM_002185.5(IL7R):c.437_438del (p.Phe146fs)
|
rs1561423197
|
|
NM_002185.5(IL7R):c.466C>T (p.Gln156Ter)
|
|
|
NM_002185.5(IL7R):c.493del (p.His165fs)
|
|
|
NM_002185.5(IL7R):c.514del (p.Glu172fs)
|
rs1225034187
|
|
NM_002185.5(IL7R):c.537+1G>A
|
rs777878144
|
|
NM_002185.5(IL7R):c.538-2A>G
|
|
|
NM_002185.5(IL7R):c.562del (p.Lys187_Leu188insTer)
|
|
|
NM_002185.5(IL7R):c.589_598del (p.Pro197fs)
|
|
|
NM_002185.5(IL7R):c.623del (p.Ile208fs)
|
|
|
NM_002185.5(IL7R):c.639_640insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCCCTGATCACTATTTT (p.Lys214delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_002185.5(IL7R):c.651G>A (p.Trp217Ter)
|
rs104893893
|
|
NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)
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rs766555082
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NM_002185.5(IL7R):c.752del (p.Phe251fs)
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NM_002185.5(IL7R):c.753dup (p.Ser252fs)
|
rs1554067182
|
|
NM_002185.5(IL7R):c.76C>T (p.Gln26Ter)
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NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
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NM_002185.5(IL7R):c.80del (p.Asn27fs)
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NM_002838.5(PTPRC):c.1625_1626dup (p.Asp543fs)
|
rs2102445016
|
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NM_002838.5(PTPRC):c.196G>T (p.Glu66Ter)
|
|
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NM_002838.5(PTPRC):c.2017C>T (p.Arg673Ter)
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NM_002838.5(PTPRC):c.2237_2238del (p.Thr746fs)
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|
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NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs)
|
rs1571880941
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NM_002838.5(PTPRC):c.260del (p.Pro87fs)
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NM_002838.5(PTPRC):c.2620del (p.Glu874fs)
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NM_002838.5(PTPRC):c.2668C>T (p.Arg890Ter)
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|
|
NM_002838.5(PTPRC):c.2940T>A (p.Tyr980Ter)
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rs779246448
|
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NM_002838.5(PTPRC):c.308C>G (p.Ser103Ter)
|
rs2102393172
|
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NM_002838.5(PTPRC):c.3236dup (p.Gln1081fs)
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|
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NM_002838.5(PTPRC):c.3390_3393del (p.Pro1131fs)
|
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NM_002838.5(PTPRC):c.590del (p.Tyr197fs)
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|
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NM_007074.4(CORO1A):c.1078del (p.Gln360fs)
|
rs606231256
|
|
NM_007074.4(CORO1A):c.248_249del (p.Pro83fs)
|
rs606231246
|
|
NM_007074.4(CORO1A):c.314_315del (p.Thr105fs)
|
rs2151062416
|
|
NM_007074.4(CORO1A):c.517G>T (p.Glu173Ter)
|
|
|
NM_007074.4(CORO1A):c.674_677del (p.Arg225fs)
|
rs1213680890
|
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NM_007074.4(CORO1A):c.855_856del (p.Cys285fs)
|
rs2151063096
|
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NM_198053.3(CD247):c.235C>T (p.Arg79Ter)
|
rs779397562
|
|