NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)
|
rs879253810
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000282.4(PCCA):c.105+1G>A
|
rs879253804
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
NM_000282.4(PCCA):c.134_135del (p.Leu45fs)
|
rs879253809
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
NM_000282.4(PCCA):c.184del (p.Thr62fs)
|
rs879253812
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
|
NM_000282.4(PCCA):c.231+47_231+50del
|
rs147037340
|
|
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly)
|
rs879253801
|
|
NM_000282.4(PCCA):c.431G>T (p.Gly144Val)
|
rs879253808
|
|
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter)
|
rs760387660
|
|
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter)
|
rs879253811
|
|
NM_000282.4(PCCA):c.600+1G>T
|
rs879253802
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|