|
NM_016628.5(WAC):c.583A>G (p.Thr195Ala)
|
rs188384010
|
0.00150
|
|
NM_016628.5(WAC):c.140G>A (p.Arg47Gln)
|
rs374821442
|
0.00002
|
|
NM_016628.5(WAC):c.367A>C (p.Lys123Gln)
|
rs949649739
|
0.00002
|
|
NM_016628.5(WAC):c.31C>T (p.Leu11Phe)
|
rs139935489
|
0.00001
|
|
NM_016628.5(WAC):c.1012A>G (p.Thr338Ala)
|
|
|
|
NM_016628.5(WAC):c.1101dup (p.Pro368fs)
|
rs1841061596
|
|
|
NM_016628.5(WAC):c.112del (p.Ser38fs)
|
rs864321693
|
|
|
NM_016628.5(WAC):c.1233del (p.Ser412fs)
|
rs2132825843
|
|
|
NM_016628.5(WAC):c.1237G>A (p.Ala413Thr)
|
|
|
|
NM_016628.5(WAC):c.1277T>C (p.Leu426Pro)
|
|
|
|
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs)
|
rs2132826154
|
|
|
NM_016628.5(WAC):c.1295C>T (p.Pro432Leu)
|
|
|
|
NM_016628.5(WAC):c.1349dup (p.Tyr450Ter)
|
|
|
|
NM_016628.5(WAC):c.1350T>G (p.Tyr450Ter)
|
rs753403940
|
|
|
NM_016628.5(WAC):c.1380_1383del (p.Asn461fs)
|
|
|
|
NM_016628.5(WAC):c.139C>T (p.Arg47Ter)
|
rs368543869
|
|
|
NM_016628.5(WAC):c.1405del (p.Ile469fs)
|
|
|
|
NM_016628.5(WAC):c.1407del (p.Ser470fs)
|
rs2132834429
|
|
|
NM_016628.5(WAC):c.1424C>G (p.Ser475Ter)
|
rs2132834581
|
|
|
NM_016628.5(WAC):c.1437+1G>A
|
rs1554791124
|
|
|
NM_016628.5(WAC):c.1444A>G (p.Thr482Ala)
|
|
|
|
NM_016628.5(WAC):c.1470_1477del (p.Gln492fs)
|
rs1589247025
|
|
|
NM_016628.5(WAC):c.1503dup (p.Asp502Ter)
|
rs2132853185
|
|
|
NM_016628.5(WAC):c.1537C>T (p.Arg513Ter)
|
rs1564421528
|
|
|
NM_016628.5(WAC):c.1549C>T (p.Arg517Cys)
|
|
|
|
NM_016628.5(WAC):c.1557-184_1747-188del
|
|
|
|
NM_016628.5(WAC):c.1558A>G (p.Ser520Gly)
|
|
|
|
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp)
|
rs1841460217
|
|
|
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter)
|
rs1554791943
|
|
|
NM_016628.5(WAC):c.1721G>A (p.Trp574Ter)
|
rs864321690
|
|
|
NM_016628.5(WAC):c.1746+1G>A
|
rs1554791975
|
|
|
NM_016628.5(WAC):c.1747-2A>G
|
|
|
|
NM_016628.5(WAC):c.1788del (p.His597fs)
|
|
|
|
NM_016628.5(WAC):c.1830_1833dup (p.Val612fs)
|
|
|
|
NM_016628.5(WAC):c.1837C>T (p.Arg613Ter)
|
rs1085307480
|
|
|
NM_016628.5(WAC):c.1852C>T (p.Gln618Ter)
|
rs864321634
|
|
|
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)
|
|
|
|
NM_016628.5(WAC):c.1865G>A (p.Arg622Gln)
|
|
|
|
NM_016628.5(WAC):c.1870C>T (p.Gln624Ter)
|
|
|
|
NM_016628.5(WAC):c.1877T>A (p.Ile626Lys)
|
|
|
|
NM_016628.5(WAC):c.1885_1886del (p.Leu629fs)
|
rs1554792658
|
|
|
NM_016628.5(WAC):c.207C>A (p.Tyr69Ter)
|
|
|
|
NM_016628.5(WAC):c.263_266del (p.Glu88fs)
|
rs864321689
|
|
|
NM_016628.5(WAC):c.265_266del (p.Arg89fs)
|
|
|
|
NM_016628.5(WAC):c.267_268dup (p.Asp90fs)
|
rs864321691
|
|
|
NM_016628.5(WAC):c.272del (p.Gly91fs)
|
|
|
|
NM_016628.5(WAC):c.275-1G>A
|
rs2132628986
|
|
|
NM_016628.5(WAC):c.275-22319G>T
|
rs2132485043
|
|
|
NM_016628.5(WAC):c.284dup (p.Tyr95Ter)
|
|
|
|
NM_016628.5(WAC):c.29_30del (p.Arg10fs)
|
rs754451905
|
|
|
NM_016628.5(WAC):c.310del (p.His104fs)
|
rs1589196229
|
|
|
NM_016628.5(WAC):c.374C>A (p.Ser125Ter)
|
rs864321692
|
|
|
NM_016628.5(WAC):c.381+4_381+7del
|
rs1564400647
|
|
|
NM_016628.5(WAC):c.405G>A (p.Trp135Ter)
|
rs1839996657
|
|
|
NM_016628.5(WAC):c.438del (p.Tyr147fs)
|
rs2132669171
|
|
|
NM_016628.5(WAC):c.451C>T (p.Arg151Ter)
|
rs886041614
|
|
|
NM_016628.5(WAC):c.460G>A (p.Val154Ile)
|
rs2132669331
|
|
|
NM_016628.5(WAC):c.464dup (p.Gln156fs)
|
|
|
|
NM_016628.5(WAC):c.469T>C (p.Trp157Arg)
|
|
|
|
NM_016628.5(WAC):c.472dup (p.Glu158fs)
|
rs2132669368
|
|
|
NM_016628.5(WAC):c.497+2T>G
|
|
|
|
NM_016628.5(WAC):c.498-2A>G
|
rs1135401769
|
|
|
NM_016628.5(WAC):c.508C>T (p.Gln170Ter)
|
rs1840040809
|
|
|
NM_016628.5(WAC):c.592delinsTG (p.Ser198fs)
|
|
|
|
NM_016628.5(WAC):c.610+2T>G
|
|
|
|
NM_016628.5(WAC):c.665C>A (p.Ser222Tyr)
|
|
|
|
NM_016628.5(WAC):c.670_673del (p.Thr224fs)
|
rs1589219377
|
|
|
NM_016628.5(WAC):c.811C>T (p.Gln271Ter)
|
rs2132709607
|
|