NM_000262.3(NAGA):c.279G>A (p.Pro93=)
|
rs133369
|
0.64950
|
NM_000262.3(NAGA):c.598-15C>T
|
rs2854827
|
0.21339
|
NM_000262.3(NAGA):c.957+4C>G
|
rs55715427
|
0.05864
|
NM_000262.3(NAGA):c.25C>T (p.Leu9=)
|
rs147528904
|
0.00293
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)
|
rs201582948
|
0.00126
|
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile)
|
rs140238609
|
0.00074
|
NM_000262.3(NAGA):c.837C>A (p.Pro279=)
|
rs149066012
|
0.00064
|
NM_000262.3(NAGA):c.760-7C>A
|
rs150693978
|
0.00063
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_000262.3(NAGA):c.1146T>C (p.Asp382=)
|
rs6002590
|
0.00039
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
NM_000262.3(NAGA):c.360G>A (p.Ala120=)
|
rs149600926
|
0.00021
|
NM_000262.3(NAGA):c.697G>A (p.Val233Met)
|
rs201294991
|
0.00018
|
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)
|
rs200080569
|
0.00017
|
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)
|
rs141557187
|
0.00013
|
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)
|
rs375884363
|
0.00011
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
NM_000262.3(NAGA):c.871G>A (p.Ala291Thr)
|
rs372146176
|
0.00008
|
NM_000262.3(NAGA):c.103C>T (p.Arg35Cys)
|
rs376933189
|
0.00006
|
NM_000262.3(NAGA):c.324+7C>T
|
rs372174335
|
0.00006
|
NM_000262.3(NAGA):c.502+8A>T
|
rs375946807
|
0.00006
|
NM_000262.3(NAGA):c.983T>C (p.Met328Thr)
|
rs140356002
|
0.00006
|
NM_000262.3(NAGA):c.324+1G>A
|
rs140673721
|
0.00004
|
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)
|
rs182798205
|
0.00004
|
NM_000262.3(NAGA):c.483C>A (p.Thr161=)
|
rs753065255
|
0.00004
|
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)
|
rs372458856
|
0.00004
|
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
|
rs553977653
|
0.00004
|
NM_000262.3(NAGA):c.598-9G>A
|
rs772435890
|
0.00004
|
NM_000262.3(NAGA):c.110G>A (p.Arg37His)
|
rs199834981
|
0.00003
|
NM_000262.3(NAGA):c.598-10C>T
|
rs776249174
|
0.00003
|
NM_000262.3(NAGA):c.638G>A (p.Arg213His)
|
rs781499383
|
0.00003
|
NM_000262.3(NAGA):c.1110C>T (p.Asp370=)
|
rs781670429
|
0.00002
|
NM_000262.3(NAGA):c.1111G>A (p.Val371Ile)
|
rs755283571
|
0.00002
|
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr)
|
rs749506008
|
0.00002
|
NM_000262.3(NAGA):c.759+10T>G
|
rs906746504
|
0.00002
|
NM_000262.3(NAGA):c.1085G>A (p.Gly362Glu)
|
rs199980021
|
0.00001
|
NM_000262.3(NAGA):c.1102-14C>A
|
rs377439996
|
0.00001
|
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln)
|
rs144771084
|
0.00001
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
NM_000262.3(NAGA):c.132G>A (p.Glu44=)
|
rs1306749721
|
0.00001
|
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter)
|
rs781137026
|
0.00001
|
NM_000262.3(NAGA):c.486C>T (p.Pro162=)
|
rs760003063
|
0.00001
|
NM_000262.3(NAGA):c.502+9C>T
|
rs768462917
|
0.00001
|
NM_000262.3(NAGA):c.542G>A (p.Arg181His)
|
rs777425990
|
0.00001
|
NM_000262.3(NAGA):c.549C>T (p.Ile183=)
|
rs374984089
|
0.00001
|
NM_000262.3(NAGA):c.646G>A (p.Asp216Asn)
|
rs754849987
|
0.00001
|
NM_000262.3(NAGA):c.802G>A (p.Ala268Thr)
|
rs1569457519
|
0.00001
|
NM_000262.3(NAGA):c.822G>A (p.Thr274=)
|
rs765604983
|
0.00001
|
NM_000262.3(NAGA):c.957+7G>A
|
rs1193330730
|
0.00001
|
NC_000022.10:g.(?_42456283)_(42463314_?)del
|
|
|
NC_000022.10:g.(?_42461722)_(42464598_?)del
|
|
|
NM_000262.3(NAGA):c.1008C>T (p.Ser336=)
|
|
|
NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr)
|
|
|
NM_000262.3(NAGA):c.1029C>A (p.Cys343Ter)
|
|
|
NM_000262.3(NAGA):c.102A>G (p.Glu34=)
|
|
|
NM_000262.3(NAGA):c.1035C>T (p.Thr345=)
|
|
|
NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn)
|
|
|
NM_000262.3(NAGA):c.1047T>G (p.Tyr349Ter)
|
|
|
NM_000262.3(NAGA):c.104G>A (p.Arg35His)
|
rs1926874320
|
|
NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser)
|
|
|
NM_000262.3(NAGA):c.1083C>A (p.Thr361=)
|
|
|
NM_000262.3(NAGA):c.1083C>T (p.Thr361=)
|
|
|
NM_000262.3(NAGA):c.1089T>G (p.Ser363=)
|
|
|
NM_000262.3(NAGA):c.1098T>C (p.Tyr366=)
|
|
|
NM_000262.3(NAGA):c.1101+10C>G
|
|
|
NM_000262.3(NAGA):c.1101+10C>T
|
|
|
NM_000262.3(NAGA):c.1101+11G>A
|
|
|
NM_000262.3(NAGA):c.1101+11G>C
|
|
|
NM_000262.3(NAGA):c.1102-10C>A
|
|
|
NM_000262.3(NAGA):c.1102-18T>C
|
|
|
NM_000262.3(NAGA):c.1102-7A>G
|
|
|
NM_000262.3(NAGA):c.1102-8C>T
|
|
|
NM_000262.3(NAGA):c.1102-9C>T
|
|
|
NM_000262.3(NAGA):c.1104C>T (p.Ala368=)
|
|
|
NM_000262.3(NAGA):c.111C>T (p.Arg37=)
|
|
|
NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter)
|
|
|
NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr)
|
rs752717782
|
|
NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser)
|
|
|
NM_000262.3(NAGA):c.1182G>A (p.Gly394=)
|
|
|
NM_000262.3(NAGA):c.1197C>T (p.Tyr399=)
|
|
|
NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr)
|
|
|
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)
|
rs1926286045
|
|
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr)
|
rs1569456853
|
|
NM_000262.3(NAGA):c.1233G>A (p.Gln411=)
|
|
|
NM_000262.3(NAGA):c.123C>G (p.Asn41Lys)
|
|
|
NM_000262.3(NAGA):c.126T>C (p.Cys42=)
|
|
|
NM_000262.3(NAGA):c.129T>C (p.Asp43=)
|
|
|
NM_000262.3(NAGA):c.141G>A (p.Lys47=)
|
|
|
NM_000262.3(NAGA):c.147C>T (p.Cys49=)
|
|
|
NM_000262.3(NAGA):c.150A>C (p.Ile50=)
|
|
|
NM_000262.3(NAGA):c.152+12C>T
|
|
|
NM_000262.3(NAGA):c.152+16A>G
|
|
|
NM_000262.3(NAGA):c.152+17C>A
|
|
|
NM_000262.3(NAGA):c.152+17C>G
|
|
|
NM_000262.3(NAGA):c.152+18_152+21del
|
|
|
NM_000262.3(NAGA):c.153-15T>C
|
|
|
NM_000262.3(NAGA):c.153-16C>T
|
|
|
NM_000262.3(NAGA):c.153-20A>T
|
|
|
NM_000262.3(NAGA):c.153-6C>G
|
|
|
NM_000262.3(NAGA):c.153-9C>T
|
|
|
NM_000262.3(NAGA):c.156A>G (p.Glu52=)
|
|
|
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)
|
|
|
NM_000262.3(NAGA):c.16+12G>A
|
|
|
NM_000262.3(NAGA):c.16+16G>T
|
|
|
NM_000262.3(NAGA):c.16+1G>A
|
|
|
NM_000262.3(NAGA):c.16+8C>T
|
|
|
NM_000262.3(NAGA):c.16G>A (p.Val6Met)
|
rs1602499597
|
|
NM_000262.3(NAGA):c.17-12C>T
|
|
|
NM_000262.3(NAGA):c.17-13C>T
|
rs2146845518
|
|
NM_000262.3(NAGA):c.17-14C>T
|
|
|
NM_000262.3(NAGA):c.17-16C>T
|
|
|
NM_000262.3(NAGA):c.17-19C>G
|
|
|
NM_000262.3(NAGA):c.17-4C>T
|
|
|
NM_000262.3(NAGA):c.17-5C>G
|
|
|
NM_000262.3(NAGA):c.17-5C>T
|
|
|
NM_000262.3(NAGA):c.171G>A (p.Glu57=)
|
|
|
NM_000262.3(NAGA):c.183G>T (p.Arg61=)
|
|
|
NM_000262.3(NAGA):c.189A>C (p.Ala63=)
|
|
|
NM_000262.3(NAGA):c.213C>T (p.Gly71=)
|
|
|
NM_000262.3(NAGA):c.234T>C (p.Asp78=)
|
|
|
NM_000262.3(NAGA):c.246C>A (p.Ile82=)
|
|
|
NM_000262.3(NAGA):c.246C>T (p.Ile82=)
|
|
|
NM_000262.3(NAGA):c.255C>T (p.Arg85=)
|
|
|
NM_000262.3(NAGA):c.256G>A (p.Asp86Asn)
|
|
|
NM_000262.3(NAGA):c.261C>T (p.Ala87=)
|
|
|
NM_000262.3(NAGA):c.270C>T (p.Arg90=)
|
|
|
NM_000262.3(NAGA):c.289C>G (p.Arg97Gly)
|
rs140775168
|
|
NM_000262.3(NAGA):c.291C>T (p.Arg97=)
|
rs1464598696
|
|
NM_000262.3(NAGA):c.295C>G (p.Pro99Ala)
|
|
|
NM_000262.3(NAGA):c.312C>T (p.Phe104=)
|
|
|
NM_000262.3(NAGA):c.314T>A (p.Leu105Gln)
|
|
|
NM_000262.3(NAGA):c.319_322dup (p.Tyr108Ter)
|
|
|
NM_000262.3(NAGA):c.322_324+9del
|
|
|
NM_000262.3(NAGA):c.324+13C>A
|
|
|
NM_000262.3(NAGA):c.324+15A>G
|
|
|
NM_000262.3(NAGA):c.324+17C>T
|
|
|
NM_000262.3(NAGA):c.324+1G>C
|
|
|
NM_000262.3(NAGA):c.324+8G>A
|
|
|
NM_000262.3(NAGA):c.324+8G>T
|
|
|
NM_000262.3(NAGA):c.324C>A (p.Tyr108Ter)
|
|
|
NM_000262.3(NAGA):c.324del (p.Asp107_Tyr108insTer)
|
|
|
NM_000262.3(NAGA):c.325-10A>T
|
|
|
NM_000262.3(NAGA):c.325-19T>C
|
|
|
NM_000262.3(NAGA):c.325-21_325-3del
|
|
|
NM_000262.3(NAGA):c.325-5C>G
|
|
|
NM_000262.3(NAGA):c.325-5C>T
|
|
|
NM_000262.3(NAGA):c.325-8C>T
|
|
|
NM_000262.3(NAGA):c.333C>T (p.Ser111=)
|
|
|
NM_000262.3(NAGA):c.337G>T (p.Gly113Cys)
|
|
|
NM_000262.3(NAGA):c.33T>C (p.His11=)
|
|
|
NM_000262.3(NAGA):c.354del (p.Tyr119fs)
|
|
|
NM_000262.3(NAGA):c.357C>T (p.Tyr119=)
|
|
|
NM_000262.3(NAGA):c.365T>C (p.Met122Thr)
|
rs1435943514
|
|
NM_000262.3(NAGA):c.369C>T (p.Gly123=)
|
|
|
NM_000262.3(NAGA):c.375C>T (p.Phe125=)
|
|
|
NM_000262.3(NAGA):c.402_403del (p.Leu135fs)
|
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
NM_000262.3(NAGA):c.406G>C (p.Asp136His)
|
rs186173534
|
|
NM_000262.3(NAGA):c.411G>A (p.Lys137=)
|
|
|
NM_000262.3(NAGA):c.435C>T (p.Phe145=)
|
|
|
NM_000262.3(NAGA):c.438C>G (p.Ala146=)
|
rs376622171
|
|
NM_000262.3(NAGA):c.438C>T (p.Ala146=)
|
|
|
NM_000262.3(NAGA):c.459C>G (p.Leu153=)
|
|
|
NM_000262.3(NAGA):c.459C>T (p.Leu153=)
|
|
|
NM_000262.3(NAGA):c.468T>C (p.Asp156=)
|
|
|
NM_000262.3(NAGA):c.480C>T (p.Ser160=)
|
|
|
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
|
rs760003063
|
|
NM_000262.3(NAGA):c.491A>C (p.Glu164Ala)
|
|
|
NM_000262.3(NAGA):c.498C>T (p.Ala166=)
|
|
|
NM_000262.3(NAGA):c.502+10G>A
|
|
|
NM_000262.3(NAGA):c.502+10G>C
|
|
|
NM_000262.3(NAGA):c.502+16G>A
|
|
|
NM_000262.3(NAGA):c.502+17G>T
|
|
|
NM_000262.3(NAGA):c.502+18C>A
|
|
|
NM_000262.3(NAGA):c.502+19T>G
|
|
|
NM_000262.3(NAGA):c.502+7T>C
|
|
|
NM_000262.3(NAGA):c.502+8dup
|
|
|
NM_000262.3(NAGA):c.503-8T>C
|
|
|
NM_000262.3(NAGA):c.504G>A (p.Gly168=)
|
|
|
NM_000262.3(NAGA):c.507C>T (p.Tyr169=)
|
|
|
NM_000262.3(NAGA):c.541C>T (p.Arg181Cys)
|
|
|
NM_000262.3(NAGA):c.543C>T (p.Arg181=)
|
|
|
NM_000262.3(NAGA):c.546C>T (p.Pro182=)
|
|
|
NM_000262.3(NAGA):c.563G>C (p.Ser188Thr)
|
|
|
NM_000262.3(NAGA):c.573C>T (p.Ala191=)
|
rs2146842828
|
|
NM_000262.3(NAGA):c.57C>T (p.Asp19=)
|
|
|
NM_000262.3(NAGA):c.585C>G (p.Gly195=)
|
|
|
NM_000262.3(NAGA):c.585C>T (p.Gly195=)
|
|
|
NM_000262.3(NAGA):c.588C>T (p.Leu196=)
|
|
|
NM_000262.3(NAGA):c.591C>A (p.Pro197=)
|
|
|
NM_000262.3(NAGA):c.591C>G (p.Pro197=)
|
|
|
NM_000262.3(NAGA):c.591C>T (p.Pro197=)
|
|
|
NM_000262.3(NAGA):c.592C>T (p.Pro198Ser)
|
rs139027070
|
|
NM_000262.3(NAGA):c.595A>C (p.Arg199=)
|
|
|
NM_000262.3(NAGA):c.597+17C>G
|
|
|
NM_000262.3(NAGA):c.597+17C>T
|
|
|
NM_000262.3(NAGA):c.597+18dup
|
rs553359794
|
|
NM_000262.3(NAGA):c.597+19T>A
|
|
|
NM_000262.3(NAGA):c.597+7C>A
|
|
|
NM_000262.3(NAGA):c.598-17T>C
|
|
|
NM_000262.3(NAGA):c.598-1G>A
|
|
|
NM_000262.3(NAGA):c.598-20G>A
|
|
|
NM_000262.3(NAGA):c.598-5T>C
|
|
|
NM_000262.3(NAGA):c.606_607del (p.Tyr202_Ser203delinsTer)
|
|
|
NM_000262.3(NAGA):c.635G>A (p.Trp212Ter)
|
|
|
NM_000262.3(NAGA):c.639dup (p.Asn214Ter)
|
|
|
NM_000262.3(NAGA):c.648T>C (p.Asp216=)
|
|
|
NM_000262.3(NAGA):c.651C>T (p.Asp217=)
|
|
|
NM_000262.3(NAGA):c.655C>T (p.Gln219Ter)
|
|
|
NM_000262.3(NAGA):c.660C>T (p.Asp220=)
|
|
|
NM_000262.3(NAGA):c.665G>A (p.Trp222Ter)
|
|
|
NM_000262.3(NAGA):c.666G>A (p.Trp222Ter)
|
|
|
NM_000262.3(NAGA):c.66C>T (p.Leu22=)
|
|
|
NM_000262.3(NAGA):c.672C>T (p.Ser224=)
|
|
|
NM_000262.3(NAGA):c.675G>T (p.Val225=)
|
|
|
NM_000262.3(NAGA):c.678C>G (p.Leu226=)
|
|
|
NM_000262.3(NAGA):c.685C>T (p.Leu229=)
|
|
|
NM_000262.3(NAGA):c.687G>A (p.Leu229=)
|
|
|
NM_000262.3(NAGA):c.696C>T (p.Phe232=)
|
|
|
NM_000262.3(NAGA):c.702G>A (p.Glu234=)
|
|
|
NM_000262.3(NAGA):c.70C>T (p.Gln24Ter)
|
|
|
NM_000262.3(NAGA):c.729C>T (p.Ala243=)
|
|
|
NM_000262.3(NAGA):c.730G>A (p.Gly244Ser)
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NM_000262.3(NAGA):c.732C>T (p.Gly244=)
|
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NM_000262.3(NAGA):c.753T>C (p.Pro251=)
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NM_000262.3(NAGA):c.756_757del (p.Met253fs)
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NM_000262.3(NAGA):c.759+11G>A
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NM_000262.3(NAGA):c.759+14G>A
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NM_000262.3(NAGA):c.759+17G>T
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NM_000262.3(NAGA):c.759+18G>A
|
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NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
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NM_000262.3(NAGA):c.760-13T>C
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NM_000262.3(NAGA):c.760-17C>G
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NM_000262.3(NAGA):c.760-17_760-15del
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NM_000262.3(NAGA):c.760-5C>A
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NM_000262.3(NAGA):c.760-9T>C
|
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NM_000262.3(NAGA):c.765C>A (p.Leu255=)
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NM_000262.3(NAGA):c.774C>T (p.Asn258=)
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NM_000262.3(NAGA):c.780T>C (p.Gly260=)
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|
NM_000262.3(NAGA):c.78A>T (p.Pro26=)
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NM_000262.3(NAGA):c.793C>T (p.Gln265Ter)
|
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NM_000262.3(NAGA):c.801G>A (p.Arg267=)
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|
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NM_000262.3(NAGA):c.816G>T (p.Leu272=)
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NM_000262.3(NAGA):c.819G>T (p.Trp273Cys)
|
|
|
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)
|
rs762474603
|
|
NM_000262.3(NAGA):c.834C>A (p.Ala278=)
|
|
|
NM_000262.3(NAGA):c.837C>G (p.Pro279=)
|
rs149066012
|
|
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)
|
rs578127376
|
|
NM_000262.3(NAGA):c.838C>G (p.Leu280Val)
|
|
|
NM_000262.3(NAGA):c.839del (p.Leu280fs)
|
|
|
NM_000262.3(NAGA):c.840C>A (p.Leu280=)
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|
|
NM_000262.3(NAGA):c.843G>A (p.Leu281=)
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|
|
NM_000262.3(NAGA):c.849C>T (p.Ser283=)
|
|
|
NM_000262.3(NAGA):c.867C>T (p.Ile289=)
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|
|
NM_000262.3(NAGA):c.870C>T (p.Ser290=)
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|
|
NM_000262.3(NAGA):c.874C>T (p.Gln292Ter)
|
|
|
NM_000262.3(NAGA):c.879C>T (p.Asn293=)
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|
|
NM_000262.3(NAGA):c.894G>A (p.Gln298=)
|
|
|
NM_000262.3(NAGA):c.903C>G (p.Leu301=)
|
|
|
NM_000262.3(NAGA):c.903C>T (p.Leu301=)
|
rs765754053
|
|
NM_000262.3(NAGA):c.91C>G (p.Leu31Val)
|
|
|
NM_000262.3(NAGA):c.925C>T (p.Pro309Ser)
|
|
|
NM_000262.3(NAGA):c.928T>C (p.Leu310=)
|
|
|
NM_000262.3(NAGA):c.939G>A (p.Gln313=)
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|
|
NM_000262.3(NAGA):c.949_957+8del
|
|
|
NM_000262.3(NAGA):c.957+13G>A
|
|
|
NM_000262.3(NAGA):c.957+16G>A
|
|
|
NM_000262.3(NAGA):c.958-12T>A
|
|
|
NM_000262.3(NAGA):c.958-14C>T
|
|
|
NM_000262.3(NAGA):c.958-16C>T
|
|
|
NM_000262.3(NAGA):c.958-20T>G
|
|
|
NM_000262.3(NAGA):c.958-6G>A
|
|
|
NM_000262.3(NAGA):c.958-7T>C
|
|
|
NM_000262.3(NAGA):c.958-8G>A
|
|
|
NM_000262.3(NAGA):c.968_969del (p.Leu323fs)
|
|
|
NM_000262.3(NAGA):c.972C>T (p.Ile324=)
|
|
|