NM_000532.5(PCCB):c.410A>G (p.His137Arg)
|
rs1391142709
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu)
|
rs1595202534
|
|
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del)
|
rs1595202607
|
|
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs)
|
rs1594090133
|
|
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
|
rs1595236063
|
|
NM_000282.4(PCCA):c.1920del (p.Arg641fs)
|
rs1594099731
|
|
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu)
|
rs1594160545
|
|
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs)
|
rs1594175453
|
|
NM_000282.4(PCCA):c.2T>A (p.Met1Lys)
|
rs372093520
|
|
NM_000282.4(PCCA):c.305del (p.His102fs)
|
rs1594413545
|
|
NM_000282.4(PCCA):c.334_335del (p.Val112fs)
|
rs1594413897
|
|
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter)
|
rs1593996636
|
|
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp)
|
rs1421021643
|
|
NM_000282.4(PCCA):c.683G>T (p.Gly228Val)
|
rs1594961620
|
|
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)
|
rs1594992191
|
|
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu)
|
rs368047060
|
|
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr)
|
rs1595032920
|
|
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu)
|
rs1595033018
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000532.5(PCCB):c.1220del (p.Gly407fs)
|
rs1576360488
|
|
NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser)
|
rs1576360539
|
|
NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)
|
rs1576360934
|
|
NM_000532.5(PCCB):c.1373C>T (p.Ala458Val)
|
rs1576360976
|
|
NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)
|
rs1576402832
|
|
NM_000532.5(PCCB):c.703A>C (p.Thr235Pro)
|
rs1021206121
|
|
NM_000532.5(PCCB):c.800C>A (p.Ala267Asp)
|
rs774249198
|
|
NM_000532.5(PCCB):c.839del (p.Leu280fs)
|
rs1576337935
|
|
NM_000532.5(PCCB):c.968TTG[1] (p.Val324del)
|
rs1353971489
|
|
NM_032861.4(SERAC1):c.1504CTT[1] (p.Leu503del)
|
rs759351997
|
|