|
NM_138927.4(SON):c.3326C>T (p.Ala1109Val)
|
rs144188863
|
0.00203
|
|
NM_138927.4(SON):c.978G>A (p.Met326Ile)
|
rs138817883
|
0.00123
|
|
NM_138927.4(SON):c.2659G>A (p.Ala887Thr)
|
rs370344763
|
0.00026
|
|
NM_138927.4(SON):c.3908C>T (p.Pro1303Leu)
|
rs187335496
|
0.00021
|
|
NM_138927.4(SON):c.3256A>G (p.Met1086Val)
|
rs199846767
|
0.00020
|
|
NM_138927.4(SON):c.580A>G (p.Met194Val)
|
rs146870437
|
0.00011
|
|
NM_138927.4(SON):c.955G>C (p.Glu319Gln)
|
rs767401593
|
0.00004
|
|
NM_138927.4(SON):c.3355A>G (p.Thr1119Ala)
|
rs751576215
|
0.00002
|
|
NM_138927.4(SON):c.5017_5019del (p.Asn1673del)
|
rs1347277368
|
0.00001
|
|
NM_138927.4(SON):c.1061C>T (p.Ser354Phe)
|
|
|
|
NM_138927.4(SON):c.1171A>G (p.Met391Val)
|
|
|
|
NM_138927.4(SON):c.1291_1323del (p.Pro431_Pro441del)
|
rs775855396
|
|
|
NM_138927.4(SON):c.1361C>G (p.Pro454Arg)
|
|
|
|
NM_138927.4(SON):c.1376C>T (p.Pro459Leu)
|
|
|
|
NM_138927.4(SON):c.140G>A (p.Gly47Asp)
|
|
|
|
NM_138927.4(SON):c.1519C>T (p.Pro507Ser)
|
|
|
|
NM_138927.4(SON):c.1532C>A (p.Thr511Lys)
|
|
|
|
NM_138927.4(SON):c.162G>C (p.Arg54Ser)
|
|
|
|
NM_138927.4(SON):c.1843_1851del (p.Ala615_Ala617del)
|
|
|
|
NM_138927.4(SON):c.1871C>G (p.Pro624Arg)
|
|
|
|
NM_138927.4(SON):c.223A>G (p.Thr75Ala)
|
|
|
|
NM_138927.4(SON):c.2271_2300dup (p.Ala767_Thr768insSerSerThrMetAspSerGlnMetLeuAla)
|
|
|
|
NM_138927.4(SON):c.237_243del (p.Arg78_Tyr79insTer)
|
rs2085617270
|
|
|
NM_138927.4(SON):c.2564T>C (p.Met855Thr)
|
|
|
|
NM_138927.4(SON):c.2611A>G (p.Met871Val)
|
|
|
|
NM_138927.4(SON):c.2650C>T (p.Gln884Ter)
|
rs2085802432
|
|
|
NM_138927.4(SON):c.2822C>T (p.Ala941Val)
|
|
|
|
NM_138927.4(SON):c.2963C>T (p.Pro988Leu)
|
|
|
|
NM_138927.4(SON):c.3070A>G (p.Met1024Val)
|
|
|
|
NM_138927.4(SON):c.3088_3094del (p.Glu1030fs)
|
|
|
|
NM_138927.4(SON):c.3091C>T (p.Arg1031Cys)
|
|
|
|
NM_138927.4(SON):c.3105AGCCTACGAGCGCTCTATGATGTC[1] (p.1036AYERSMMS[1])
|
rs746317953
|
|
|
NM_138927.4(SON):c.313A>G (p.Thr105Ala)
|
|
|
|
NM_138927.4(SON):c.3287dup (p.Tyr1096Ter)
|
|
|
|
NM_138927.4(SON):c.3302G>A (p.Arg1101Gln)
|
|
|
|
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)
|
rs1064796472
|
|
|
NM_138927.4(SON):c.384del (p.Lys128fs)
|
rs778418096
|
|
|
NM_138927.4(SON):c.384dup (p.Tyr129fs)
|
rs778418096
|
|
|
NM_138927.4(SON):c.4119_4142dup (p.Glu1385_Pro1386insSerSerThrValThrValLeuGlu)
|
|
|
|
NM_138927.4(SON):c.4310C>G (p.Ser1437Cys)
|
|
|
|
NM_138927.4(SON):c.4522C>T (p.His1508Tyr)
|
|
|
|
NM_138927.4(SON):c.4774_4777del (p.Thr1592fs)
|
rs1555899177
|
|
|
NM_138927.4(SON):c.4777_4778del (p.Leu1593fs)
|
rs2085890040
|
|
|
NM_138927.4(SON):c.4814C>T (p.Ala1605Val)
|
|
|
|
NM_138927.4(SON):c.4877ATG[1] (p.Asp1627del)
|
|
|
|
NM_138927.4(SON):c.5038G>T (p.Glu1680Ter)
|
rs1555899242
|
|
|
NM_138927.4(SON):c.5050C>T (p.Pro1684Ser)
|
|
|
|
NM_138927.4(SON):c.5058dup (p.Glu1687fs)
|
rs2085901333
|
|
|
NM_138927.4(SON):c.5080G>T (p.Ala1694Ser)
|
|
|
|
NM_138927.4(SON):c.5495_5497del (p.Ser1832_Glu1833delinsTer)
|
rs1555899379
|
|
|
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs)
|
rs886039774
|
|
|
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs)
|
rs1382415023
|
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
|
NM_138927.4(SON):c.5776A>G (p.Ser1926Gly)
|
|
|
|
NM_138927.4(SON):c.5843G>C (p.Ser1948Thr)
|
|
|
|
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[3] (p.1957SRTPSRR[5])
|
rs1462103775
|
|
|
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[5] (p.Arg1998_Arg1999insSerArgThrProSerArgArg)
|
|
|
|
NM_138927.4(SON):c.5943_5963del (p.1957SRTPSRR[5])
|
rs766784590
|
|
|
NM_138927.4(SON):c.6265A>G (p.Ile2089Val)
|
|
|
|
NM_138927.4(SON):c.6351A>T (p.Glu2117Asp)
|
|
|
|
NM_138927.4(SON):c.6657+328G>A
|
|
|
|
NM_138927.4(SON):c.6674C>T (p.Thr2225Ile)
|
|
|
|
NM_138927.4(SON):c.7034-5T>A
|
rs2086382209
|
|
|
NM_138927.4(SON):c.757A>G (p.Thr253Ala)
|
|
|
|
NM_138927.4(SON):c.835G>A (p.Val279Met)
|
|
|