NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
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.403G>A (p.Asp135Asn)
|
rs201312694
|
0.00002
|
NM_002382.5(MAX):c.415G>A (p.Asp139Asn)
|
rs772397458
|
0.00002
|
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.376G>A (p.Ala126Thr)
|
rs779789251
|
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.41A>G (p.Glu14Gly)
|
rs876660888
|
0.00001
|
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)
|
rs760147253
|
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
|
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
|
|
|
NM_002382.5(MAX):c.172-5C>G
|
rs2063106610
|
|
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.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.208T>C (p.Tyr70His)
|
|
|
NM_002382.5(MAX):c.209A>G (p.Tyr70Cys)
|
rs2139755062
|
|
NM_002382.5(MAX):c.218A>G (p.Tyr73Cys)
|
rs2063105092
|
|
NM_002382.5(MAX):c.222G>A (p.Met74Ile)
|
|
|
NM_002382.5(MAX):c.224G>A (p.Arg75Gln)
|
|
|
NM_002382.5(MAX):c.230A>G (p.Lys77Arg)
|
|
|
NM_002382.5(MAX):c.235C>T (p.His79Tyr)
|
|
|
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.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.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.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.295+3G>T
|
|
|
NM_002382.5(MAX):c.296-1G>A
|
rs1555340265
|
|
NM_002382.5(MAX):c.301G>A (p.Ala101Thr)
|
rs2063066138
|
|
NM_002382.5(MAX):c.305T>C (p.Leu102Pro)
|
|
|
NM_002382.5(MAX):c.308A>G (p.Glu103Gly)
|
rs1595127413
|
|
NM_002382.5(MAX):c.310A>T (p.Lys104Ter)
|
|
|
NM_002382.5(MAX):c.311A>G (p.Lys104Arg)
|
rs2139741946
|
|
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.328C>G (p.Gln110Glu)
|
rs2063065600
|
|
NM_002382.5(MAX):c.331C>A (p.Leu111Met)
|
|
|
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>C (p.Gln112His)
|
rs1595127306
|
|
NM_002382.5(MAX):c.337A>T (p.Thr113Ser)
|
rs1060500100
|
|
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.350C>T (p.Ser117Phe)
|
rs2139741158
|
|
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.359A>G (p.Asn120Ser)
|
rs80206158
|
|
NM_002382.5(MAX):c.360C>A (p.Asn120Lys)
|
rs1555340209
|
|
NM_002382.5(MAX):c.37-3_37-2insG
|
|
|
NM_002382.5(MAX):c.373A>T (p.Asn125Tyr)
|
|
|
NM_002382.5(MAX):c.376G>T (p.Ala126Ser)
|
rs779789251
|
|
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.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.388A>G (p.Thr130Ala)
|
rs1566598180
|
|
NM_002382.5(MAX):c.38A>G (p.Glu13Gly)
|
|
|
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.406G>C (p.Gly136Arg)
|
rs140490467
|
|
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.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>C (p.Glu143Asp)
|
rs773818427
|
|
NM_002382.5(MAX):c.430T>C (p.Ser144Pro)
|
|
|
NM_002382.5(MAX):c.436C>T (p.Pro146Ser)
|
|
|
NM_002382.5(MAX):c.439G>A (p.Glu147Lys)
|
rs2063059506
|
|
NM_002382.5(MAX):c.442dup (p.Glu148fs)
|
rs1566597938
|
|
NM_002382.5(MAX):c.449A>G (p.Gln150Arg)
|
|
|
NM_002382.5(MAX):c.452G>A (p.Ser151Asn)
|
rs2139739378
|
|
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.478del (p.Ser160fs)
|
|
|
NM_002382.5(MAX):c.47C>T (p.Pro16Leu)
|
rs2063834899
|
|
NM_002382.5(MAX):c.49A>G (p.Arg17Gly)
|
|
|
NM_002382.5(MAX):c.50G>A (p.Arg17Lys)
|
|
|
NM_002382.5(MAX):c.52T>A (p.Phe18Ile)
|
rs2139963969
|
|
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.63G>T (p.Ala21=)
|
rs765338814
|
|