NM_002382.5(MAX):c.*587G>A
|
rs1957949
|
0.52668
|
NM_002382.5(MAX):c.*565G>A
|
rs1957948
|
0.48891
|
NM_002382.5(MAX):c.*1127G>C
|
rs4902357
|
0.48713
|
NM_002382.5(MAX):c.*404C>T
|
rs4902359
|
0.48552
|
NM_002382.5(MAX):c.*717T>C
|
rs4902358
|
0.27135
|
NM_002382.5(MAX):c.*92G>A
|
rs45604339
|
0.26844
|
NM_002382.5(MAX):c.*603C>G
|
rs117802316
|
0.01457
|
NM_002382.5(MAX):c.*405G>A
|
rs45440292
|
0.00825
|
NM_002382.5(MAX):c.*461C>T
|
rs183428804
|
0.00262
|
NM_002382.5(MAX):c.*616C>T
|
rs192895631
|
0.00103
|
NM_002382.5(MAX):c.172-6230G>A
|
rs148339628
|
0.00097
|
NM_002382.5(MAX):c.*1229C>T
|
rs562514408
|
0.00066
|
NM_002382.5(MAX):c.*7C>T
|
rs199514174
|
0.00051
|
NM_002382.5(MAX):c.*144C>T
|
rs191382960
|
0.00050
|
NM_002382.5(MAX):c.*128T>A
|
rs539193441
|
0.00029
|
NM_002382.5(MAX):c.*1308C>T
|
rs527697025
|
0.00024
|
NM_002382.5(MAX):c.*873T>C
|
rs183467855
|
0.00019
|
NM_002382.5(MAX):c.406G>A (p.Gly136Arg)
|
rs140490467
|
0.00019
|
NM_002382.5(MAX):c.*1278C>T
|
rs541851564
|
0.00017
|
NM_002382.5(MAX):c.*1123A>C
|
rs552459072
|
0.00014
|
NM_002382.5(MAX):c.*1276G>C
|
rs748335228
|
0.00013
|
NM_002382.5(MAX):c.*503T>G
|
rs886050633
|
0.00013
|
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_002382.5(MAX):c.426G>A (p.Ser142=)
|
rs145787299
|
0.00011
|
NM_002382.5(MAX):c.*375G>A
|
rs539220905
|
0.00009
|
NM_002382.5(MAX):c.279T>C (p.Ala93=)
|
rs145370107
|
0.00009
|
NM_002382.5(MAX):c.*248A>T
|
rs559154342
|
0.00007
|
NM_002382.5(MAX):c.*297C>T
|
rs561525266
|
0.00007
|
NM_002382.5(MAX):c.*320T>G
|
rs750680125
|
0.00006
|
NM_002382.5(MAX):c.*534G>A
|
rs886050632
|
0.00006
|
NM_002382.5(MAX):c.*942C>T
|
rs886050630
|
0.00004
|
NM_002382.5(MAX):c.177C>G (p.Ser59=)
|
rs781103630
|
0.00004
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
NM_002382.5(MAX):c.*170C>T
|
rs762709691
|
0.00003
|
NM_002382.5(MAX):c.*44G>A
|
rs767990726
|
0.00003
|
NM_002382.5(MAX):c.-127G>A
|
rs886050637
|
0.00003
|
NM_002382.5(MAX):c.295+8C>G
|
rs754409025
|
0.00003
|
NM_002382.5(MAX):c.*1035C>T
|
rs1357628064
|
0.00002
|
NM_002382.5(MAX):c.*943G>A
|
rs111875569
|
0.00002
|
NM_002382.5(MAX):c.172-12A>G
|
rs746620560
|
0.00002
|
NM_002382.5(MAX):c.295+10C>T
|
rs375446224
|
0.00002
|
NM_002382.5(MAX):c.295+6C>T
|
rs146552320
|
0.00002
|
NM_002382.5(MAX):c.296-13G>C
|
rs765385240
|
0.00002
|
NM_002382.5(MAX):c.296-18C>T
|
rs908323739
|
0.00002
|
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)
|
rs775808138
|
0.00002
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
NM_002382.5(MAX):c.402C>T (p.Phe134=)
|
rs765370870
|
0.00002
|
NM_002382.5(MAX):c.403G>A (p.Asp135Asn)
|
rs201312694
|
0.00002
|
NM_002382.5(MAX):c.415G>A (p.Asp139Asn)
|
rs772397458
|
0.00002
|
NM_002382.5(MAX):c.63+8T>C
|
rs776724315
|
0.00002
|
NM_002382.5(MAX):c.*1285T>C
|
rs886050628
|
0.00001
|
NM_002382.5(MAX):c.172-16T>C
|
rs1316320305
|
0.00001
|
NM_002382.5(MAX):c.172-7G>A
|
rs1450450380
|
0.00001
|
NM_002382.5(MAX):c.223C>T (p.Arg75Ter)
|
rs387906650
|
0.00001
|
NM_002382.5(MAX):c.258C>T (p.Asp86=)
|
rs780385213
|
0.00001
|
NM_002382.5(MAX):c.282T>C (p.Leu94=)
|
rs1413313831
|
0.00001
|
NM_002382.5(MAX):c.295+11G>A
|
rs759033476
|
0.00001
|
NM_002382.5(MAX):c.298C>T (p.Arg100Cys)
|
rs762084527
|
0.00001
|
NM_002382.5(MAX):c.299G>A (p.Arg100His)
|
rs776978293
|
0.00001
|
NM_002382.5(MAX):c.314C>T (p.Ala105Val)
|
rs769051095
|
0.00001
|
NM_002382.5(MAX):c.331C>G (p.Leu111Val)
|
rs748675729
|
0.00001
|
NM_002382.5(MAX):c.332T>G (p.Leu111Arg)
|
rs1477107672
|
0.00001
|
NM_002382.5(MAX):c.344A>G (p.Tyr115Cys)
|
rs769555911
|
0.00001
|
NM_002382.5(MAX):c.346C>G (p.Pro116Ala)
|
rs1186625283
|
0.00001
|
NM_002382.5(MAX):c.349T>G (p.Ser117Ala)
|
rs1483314784
|
0.00001
|
NM_002382.5(MAX):c.37-10C>G
|
rs1457798349
|
0.00001
|
NM_002382.5(MAX):c.375C>T (p.Asn125=)
|
rs370238588
|
0.00001
|
NM_002382.5(MAX):c.376G>A (p.Ala126Thr)
|
rs779789251
|
0.00001
|
NM_002382.5(MAX):c.39A>G (p.Glu13=)
|
rs780941187
|
0.00001
|
NM_002382.5(MAX):c.405T>A (p.Asp135Glu)
|
rs1354621995
|
0.00001
|
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
|
rs771696396
|
0.00001
|
NM_002382.5(MAX):c.414G>A (p.Ser138=)
|
rs559090673
|
0.00001
|
NM_002382.5(MAX):c.41A>G (p.Glu14Gly)
|
rs876660888
|
0.00001
|
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)
|
rs760147253
|
0.00001
|
NM_002382.5(MAX):c.438T>C (p.Pro146=)
|
rs1259526031
|
0.00001
|
NM_002382.5(MAX):c.450A>G (p.Gln150=)
|
rs2063058995
|
0.00001
|
NM_002382.5(MAX):c.462G>A (p.Lys154=)
|
rs1203172320
|
0.00001
|
NM_002382.5(MAX):c.466C>T (p.Arg156Trp)
|
rs768360710
|
0.00001
|
NM_002382.5(MAX):c.475G>A (p.Ala159Thr)
|
rs779958074
|
0.00001
|
NM_002382.5(MAX):c.57A>G (p.Gln19=)
|
rs1395966308
|
0.00001
|
NC_000014.8:g.(?_65543194)_(65544764_?)dup
|
|
|
NC_000014.8:g.(?_65543194)_(65560543_?)dup
|
|
|
NC_000014.8:g.(?_65543194)_(65569057_?)dup
|
|
|
NC_000014.8:g.(?_65568254)_(65569057_?)dup
|
|
|
NC_000014.9:g.(?_65076466)_(65102349_?)dup
|
|
|
NC_000014.9:g.(?_65093698)_(65102349_?)del
|
|
|
NM_002382.5(MAX):c.*1023C>T
|
rs886050629
|
|
NM_002382.5(MAX):c.*169T>C
|
rs567680521
|
|
NM_002382.5(MAX):c.*344T>A
|
rs561238353
|
|
NM_002382.5(MAX):c.*608CA[1]
|
rs886050631
|
|
NM_002382.5(MAX):c.*65G>C
|
rs566299166
|
|
NM_002382.5(MAX):c.*678C>T
|
rs934021031
|
|
NM_002382.5(MAX):c.*700G>T
|
rs139403325
|
|
NM_002382.5(MAX):c.*96C>G
|
rs949792280
|
|
NM_002382.5(MAX):c.-152TG[8]
|
rs886050638
|
|
NM_002382.5(MAX):c.172-10_172-9del
|
|
|
NM_002382.5(MAX):c.172-13C>T
|
rs2063106962
|
|
NM_002382.5(MAX):c.172-14T>C
|
|
|
NM_002382.5(MAX):c.172-15C>T
|
|
|
NM_002382.5(MAX):c.172-17T>C
|
|
|
NM_002382.5(MAX):c.172-5C>G
|
rs2063106610
|
|
NM_002382.5(MAX):c.172-6278_172-6277del
|
|
|
NM_002382.5(MAX):c.172G>A (p.Ala58Thr)
|
rs2063106441
|
|
NM_002382.5(MAX):c.173C>T (p.Ala58Val)
|
rs2063106341
|
|
NM_002382.5(MAX):c.178C>T (p.Arg60Trp)
|
rs2063106124
|
|
NM_002382.5(MAX):c.179G>A (p.Arg60Gln)
|
rs2063106020
|
|
NM_002382.5(MAX):c.181G>T (p.Ala61Ser)
|
|
|
NM_002382.5(MAX):c.182C>T (p.Ala61Val)
|
|
|
NM_002382.5(MAX):c.183_195del (p.Gln62fs)
|
|
|
NM_002382.5(MAX):c.189C>A (p.Ile63=)
|
|
|
NM_002382.5(MAX):c.191T>C (p.Leu64Pro)
|
|
|
NM_002382.5(MAX):c.194A>G (p.Asp65Gly)
|
|
|
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
|
|
|
NM_002382.5(MAX):c.197A>G (p.Lys66Arg)
|
rs2063105729
|
|
NM_002382.5(MAX):c.198A>C (p.Lys66Asn)
|
|
|
NM_002382.5(MAX):c.205_206del (p.Glu69fs)
|
rs2139755167
|
|
NM_002382.5(MAX):c.208T>C (p.Tyr70His)
|
|
|
NM_002382.5(MAX):c.209A>G (p.Tyr70Cys)
|
rs2139755062
|
|
NM_002382.5(MAX):c.211_221del (p.Ile71fs)
|
rs1060500101
|
|
NM_002382.5(MAX):c.213C>T (p.Ile71=)
|
rs777274451
|
|
NM_002382.5(MAX):c.216G>A (p.Gln72=)
|
rs2139754832
|
|
NM_002382.5(MAX):c.218A>G (p.Tyr73Cys)
|
rs2063105092
|
|
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter)
|
rs1193255946
|
|
NM_002382.5(MAX):c.222G>A (p.Met74Ile)
|
|
|
NM_002382.5(MAX):c.224G>A (p.Arg75Gln)
|
|
|
NM_002382.5(MAX):c.225A>C (p.Arg75=)
|
rs2063104742
|
|
NM_002382.5(MAX):c.228del (p.Asn78fs)
|
rs1555340550
|
|
NM_002382.5(MAX):c.230A>G (p.Lys77Arg)
|
|
|
NM_002382.5(MAX):c.234_235dup (p.His79fs)
|
|
|
NM_002382.5(MAX):c.235C>T (p.His79Tyr)
|
|
|
NM_002382.5(MAX):c.242_243dup (p.Gln82fs)
|
rs2063104408
|
|
NM_002382.5(MAX):c.243C>A (p.His81Gln)
|
rs1242630320
|
|
NM_002382.5(MAX):c.244C>G (p.Gln82Glu)
|
rs2063104349
|
|
NM_002382.5(MAX):c.246G>C (p.Gln82His)
|
rs2063104208
|
|
NM_002382.5(MAX):c.259G>A (p.Asp87Asn)
|
rs758700113
|
|
NM_002382.5(MAX):c.261C>T (p.Asp87=)
|
rs750761201
|
|
NM_002382.5(MAX):c.264C>T (p.Leu88=)
|
rs2139753133
|
|
NM_002382.5(MAX):c.265A>G (p.Lys89Glu)
|
|
|
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
|
|
|
NM_002382.5(MAX):c.266A>G (p.Lys89Arg)
|
rs2063103739
|
|
NM_002382.5(MAX):c.267G>A (p.Lys89=)
|
|
|
NM_002382.5(MAX):c.268C>A (p.Arg90=)
|
rs1060500099
|
|
NM_002382.5(MAX):c.268C>T (p.Arg90Trp)
|
rs1060500099
|
|
NM_002382.5(MAX):c.269G>A (p.Arg90Gln)
|
rs876659562
|
|
NM_002382.5(MAX):c.269G>C (p.Arg90Pro)
|
|
|
NM_002382.5(MAX):c.270G>C (p.Arg90=)
|
|
|
NM_002382.5(MAX):c.275A>G (p.Asn92Ser)
|
|
|
NM_002382.5(MAX):c.277G>A (p.Ala93Thr)
|
rs1555340540
|
|
NM_002382.5(MAX):c.277G>C (p.Ala93Pro)
|
rs1555340540
|
|
NM_002382.5(MAX):c.280C>A (p.Leu94Ile)
|
rs1595130897
|
|
NM_002382.5(MAX):c.280C>G (p.Leu94Val)
|
rs1595130897
|
|
NM_002382.5(MAX):c.280C>T (p.Leu94Phe)
|
|
|
NM_002382.5(MAX):c.284T>C (p.Leu95Pro)
|
rs878854499
|
|
NM_002382.5(MAX):c.285G>A (p.Leu95=)
|
rs878854500
|
|
NM_002382.5(MAX):c.288G>A (p.Glu96=)
|
rs1595130838
|
|
NM_002382.5(MAX):c.289C>T (p.Gln97Ter)
|
rs1167538050
|
|
NM_002382.5(MAX):c.291G>A (p.Gln97=)
|
rs1046488730
|
|
NM_002382.5(MAX):c.295+10C>G
|
rs375446224
|
|
NM_002382.5(MAX):c.295+11G>T
|
|
|
NM_002382.5(MAX):c.295+14C>G
|
rs762605226
|
|
NM_002382.5(MAX):c.295+14C>T
|
|
|
NM_002382.5(MAX):c.295+16C>G
|
rs537719104
|
|
NM_002382.5(MAX):c.295+16C>T
|
rs537719104
|
|
NM_002382.5(MAX):c.295+17G>A
|
rs201127403
|
|
NM_002382.5(MAX):c.295+19G>A
|
rs2139751619
|
|
NM_002382.5(MAX):c.295+1G>A
|
rs786203385
|
|
NM_002382.5(MAX):c.295+1G>T
|
rs786203385
|
|
NM_002382.5(MAX):c.295+2_295+3del
|
rs2063102803
|
|
NM_002382.5(MAX):c.295+3G>T
|
|
|
NM_002382.5(MAX):c.295+8C>T
|
rs754409025
|
|
NM_002382.5(MAX):c.295+9C>T
|
|
|
NM_002382.5(MAX):c.296-12G>C
|
rs2139742201
|
|
NM_002382.5(MAX):c.296-14T>C
|
|
|
NM_002382.5(MAX):c.296-15T>C
|
rs760244573
|
|
NM_002382.5(MAX):c.296-1G>A
|
rs1555340265
|
|
NM_002382.5(MAX):c.296-20C>T
|
|
|
NM_002382.5(MAX):c.296-25AC[2]
|
|
|
NM_002382.5(MAX):c.296-4T>C
|
rs2139742186
|
|
NM_002382.5(MAX):c.297C>T (p.Val99=)
|
|
|
NM_002382.5(MAX):c.300_309dup (p.Lys104fs)
|
|
|
NM_002382.5(MAX):c.301G>A (p.Ala101Thr)
|
rs2063066138
|
|
NM_002382.5(MAX):c.303A>G (p.Ala101=)
|
|
|
NM_002382.5(MAX):c.305T>C (p.Leu102Pro)
|
|
|
NM_002382.5(MAX):c.306G>A (p.Leu102=)
|
|
|
NM_002382.5(MAX):c.308A>G (p.Glu103Gly)
|
rs1595127413
|
|
NM_002382.5(MAX):c.309G>A (p.Glu103=)
|
rs2139741966
|
|
NM_002382.5(MAX):c.310A>T (p.Lys104Ter)
|
|
|
NM_002382.5(MAX):c.311A>G (p.Lys104Arg)
|
rs2139741946
|
|
NM_002382.5(MAX):c.315G>A (p.Ala105=)
|
rs761220254
|
|
NM_002382.5(MAX):c.321A>G (p.Ser107=)
|
|
|
NM_002382.5(MAX):c.323G>A (p.Ser108Asn)
|
rs2063065719
|
|
NM_002382.5(MAX):c.325G>A (p.Ala109Thr)
|
rs2139741730
|
|
NM_002382.5(MAX):c.327C>T (p.Ala109=)
|
rs1595127360
|
|
NM_002382.5(MAX):c.328C>G (p.Gln110Glu)
|
rs2063065600
|
|
NM_002382.5(MAX):c.330A>G (p.Gln110=)
|
rs772661746
|
|
NM_002382.5(MAX):c.331C>A (p.Leu111Met)
|
|
|
NM_002382.5(MAX):c.333G>A (p.Leu111=)
|
rs2139741549
|
|
NM_002382.5(MAX):c.334C>T (p.Gln112Ter)
|
|
|
NM_002382.5(MAX):c.335A>G (p.Gln112Arg)
|
rs1234074950
|
|
NM_002382.5(MAX):c.336G>A (p.Gln112=)
|
rs1595127306
|
|
NM_002382.5(MAX):c.336G>C (p.Gln112His)
|
rs1595127306
|
|
NM_002382.5(MAX):c.337A>T (p.Thr113Ser)
|
rs1060500100
|
|
NM_002382.5(MAX):c.339C>T (p.Thr113=)
|
rs786203812
|
|
NM_002382.5(MAX):c.341A>G (p.Asn114Ser)
|
rs772912674
|
|
NM_002382.5(MAX):c.343T>C (p.Tyr115His)
|
|
|
NM_002382.5(MAX):c.346C>T (p.Pro116Ser)
|
rs1186625283
|
|
NM_002382.5(MAX):c.348C>T (p.Pro116=)
|
|
|
NM_002382.5(MAX):c.350C>T (p.Ser117Phe)
|
rs2139741158
|
|
NM_002382.5(MAX):c.351C>T (p.Ser117=)
|
rs1555340215
|
|
NM_002382.5(MAX):c.353C>G (p.Ser118Ter)
|
|
|
NM_002382.5(MAX):c.353C>T (p.Ser118Leu)
|
rs2063063803
|
|
NM_002382.5(MAX):c.355G>A (p.Asp119Asn)
|
|
|
NM_002382.5(MAX):c.356A>G (p.Asp119Gly)
|
|
|
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
|
|
|
NM_002382.5(MAX):c.359A>G (p.Asn120Ser)
|
rs80206158
|
|
NM_002382.5(MAX):c.360C>A (p.Asn120Lys)
|
rs1555340209
|
|
NM_002382.5(MAX):c.363C>T (p.Ser121=)
|
|
|
NM_002382.5(MAX):c.366C>T (p.Leu122=)
|
|
|
NM_002382.5(MAX):c.369C>T (p.Tyr123=)
|
rs2063063134
|
|
NM_002382.5(MAX):c.37-10C>T
|
rs1457798349
|
|
NM_002382.5(MAX):c.37-12_37-9del
|
rs2139964910
|
|
NM_002382.5(MAX):c.37-15del
|
rs747340873
|
|
NM_002382.5(MAX):c.37-15dup
|
rs747340873
|
|
NM_002382.5(MAX):c.37-3_37-2insG
|
|
|
NM_002382.5(MAX):c.37-4C>A
|
rs747811786
|
|
NM_002382.5(MAX):c.37-4C>T
|
rs747811786
|
|
NM_002382.5(MAX):c.37-6T>C
|
rs1389763236
|
|
NM_002382.5(MAX):c.37-7A>G
|
rs755615437
|
|
NM_002382.5(MAX):c.372C>A (p.Thr124=)
|
|
|
NM_002382.5(MAX):c.372C>G (p.Thr124=)
|
|
|
NM_002382.5(MAX):c.373A>C (p.Asn125His)
|
rs2063062933
|
|
NM_002382.5(MAX):c.373A>T (p.Asn125Tyr)
|
|
|
NM_002382.5(MAX):c.376G>T (p.Ala126Ser)
|
rs779789251
|
|
NM_002382.5(MAX):c.378C>T (p.Ala126=)
|
rs2139740643
|
|
NM_002382.5(MAX):c.37_38del (p.Glu13fs)
|
|
|
NM_002382.5(MAX):c.380A>G (p.Lys127Arg)
|
rs2063062410
|
|
NM_002382.5(MAX):c.382G>A (p.Gly128Ser)
|
rs2139740580
|
|
NM_002382.5(MAX):c.384C>A (p.Gly128=)
|
rs1555340201
|
|
NM_002382.5(MAX):c.385A>G (p.Ser129Gly)
|
rs2063062255
|
|
NM_002382.5(MAX):c.385A>T (p.Ser129Cys)
|
|
|
NM_002382.5(MAX):c.387C>A (p.Ser129Arg)
|
rs2063062162
|
|
NM_002382.5(MAX):c.387C>T (p.Ser129=)
|
|
|
NM_002382.5(MAX):c.388A>G (p.Thr130Ala)
|
rs1566598180
|
|
NM_002382.5(MAX):c.38A>G (p.Glu13Gly)
|
|
|
NM_002382.5(MAX):c.390C>T (p.Thr130=)
|
rs2139740415
|
|
NM_002382.5(MAX):c.391A>G (p.Ile131Val)
|
rs1595127131
|
|
NM_002382.5(MAX):c.398C>T (p.Ala133Val)
|
|
|
NM_002382.5(MAX):c.403G>C (p.Asp135His)
|
rs201312694
|
|
NM_002382.5(MAX):c.405T>C (p.Asp135=)
|
rs1354621995
|
|
NM_002382.5(MAX):c.406G>C (p.Gly136Arg)
|
rs140490467
|
|
NM_002382.5(MAX):c.408G>A (p.Gly136=)
|
rs764320975
|
|
NM_002382.5(MAX):c.409G>C (p.Gly137Arg)
|
rs17852278
|
|
NM_002382.5(MAX):c.410del (p.Gly137fs)
|
rs2139740118
|
|
NM_002382.5(MAX):c.413C>T (p.Ser138Leu)
|
rs1176118785
|
|
NM_002382.5(MAX):c.414G>C (p.Ser138=)
|
|
|
NM_002382.5(MAX):c.416A>T (p.Asp139Val)
|
rs2139739937
|
|
NM_002382.5(MAX):c.417C>G (p.Asp139Glu)
|
rs2139739918
|
|
NM_002382.5(MAX):c.422G>C (p.Ser141Thr)
|
rs1159227189
|
|
NM_002382.5(MAX):c.424T>C (p.Ser142Pro)
|
|
|
NM_002382.5(MAX):c.429G>A (p.Glu143=)
|
rs773818427
|
|
NM_002382.5(MAX):c.429G>C (p.Glu143Asp)
|
rs773818427
|
|
NM_002382.5(MAX):c.430T>C (p.Ser144Pro)
|
|
|
NM_002382.5(MAX):c.432T>A (p.Ser144=)
|
rs1485899939
|
|
NM_002382.5(MAX):c.432T>C (p.Ser144=)
|
rs1485899939
|
|
NM_002382.5(MAX):c.432T>G (p.Ser144=)
|
rs1485899939
|
|
NM_002382.5(MAX):c.435G>A (p.Glu145=)
|
rs1555340184
|
|
NM_002382.5(MAX):c.436C>T (p.Pro146Ser)
|
|
|
NM_002382.5(MAX):c.438T>A (p.Pro146=)
|
|
|
NM_002382.5(MAX):c.439G>A (p.Glu147Lys)
|
rs2063059506
|
|
NM_002382.5(MAX):c.442dup (p.Glu148fs)
|
rs1566597938
|
|
NM_002382.5(MAX):c.444G>A (p.Glu148=)
|
|
|
NM_002382.5(MAX):c.447C>G (p.Pro149=)
|
|
|
NM_002382.5(MAX):c.449A>G (p.Gln150Arg)
|
|
|
NM_002382.5(MAX):c.452G>A (p.Ser151Asn)
|
rs2139739378
|
|
NM_002382.5(MAX):c.456G>A (p.Arg152=)
|
rs546006873
|
|
NM_002382.5(MAX):c.459G>A (p.Lys153=)
|
rs2139739290
|
|
NM_002382.5(MAX):c.45A>G (p.Gln15=)
|
rs2139964326
|
|
NM_002382.5(MAX):c.460A>G (p.Lys154Glu)
|
|
|
NM_002382.5(MAX):c.467G>A (p.Arg156Gln)
|
rs876659544
|
|
NM_002382.5(MAX):c.46C>A (p.Pro16Thr)
|
|
|
NM_002382.5(MAX):c.46C>G (p.Pro16Ala)
|
|
|
NM_002382.5(MAX):c.473A>G (p.Glu158Gly)
|
|
|
NM_002382.5(MAX):c.474G>A (p.Glu158=)
|
|
|
NM_002382.5(MAX):c.478del (p.Ser160fs)
|
|
|
NM_002382.5(MAX):c.47C>T (p.Pro16Leu)
|
rs2063834899
|
|
NM_002382.5(MAX):c.48G>A (p.Pro16=)
|
rs766338234
|
|
NM_002382.5(MAX):c.48G>C (p.Pro16=)
|
rs766338234
|
|
NM_002382.5(MAX):c.49A>G (p.Arg17Gly)
|
|
|
NM_002382.5(MAX):c.50G>A (p.Arg17Lys)
|
|
|
NM_002382.5(MAX):c.51G>A (p.Arg17=)
|
|
|
NM_002382.5(MAX):c.52T>A (p.Phe18Ile)
|
rs2139963969
|
|
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)
|
rs2139963878
|
|
NM_002382.5(MAX):c.57A>C (p.Gln19His)
|
rs1395966308
|
|
NM_002382.5(MAX):c.58T>C (p.Ser20Pro)
|
rs2063833930
|
|
NM_002382.5(MAX):c.59C>A (p.Ser20Tyr)
|
|
|
NM_002382.5(MAX):c.59C>T (p.Ser20Phe)
|
|
|
NM_002382.5(MAX):c.60T>C (p.Ser20=)
|
|
|
NM_002382.5(MAX):c.63+10C>G
|
rs764233219
|
|
NM_002382.5(MAX):c.63+10del
|
rs2139963249
|
|
NM_002382.5(MAX):c.63+7C>T
|
rs761752335
|
|
NM_002382.5(MAX):c.63+9C>G
|
|
|
NM_002382.5(MAX):c.63+9C>T
|
rs1172912017
|
|
NM_002382.5(MAX):c.63G>T (p.Ala21=)
|
rs765338814
|
|
NR_073138.1(MAX):n.146C>G
|
rs899541680
|
|