NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000282.4(PCCA):c.105+1G>C
|
|
|
NM_000282.4(PCCA):c.106-1G>A
|
rs769819121
|
|
NM_000282.4(PCCA):c.106-2A>G
|
|
|
NM_000282.4(PCCA):c.1065+1G>A
|
|
|
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
|
|
|
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
|
|
|
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
|
|
|
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1541-1G>C
|
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
NM_000282.4(PCCA):c.1860del (p.Ala621fs)
|
|
|
NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)
|
|
|
NM_000282.4(PCCA):c.1899+1G>T
|
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
|
|
|
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
NM_000282.4(PCCA):c.2041_2044del
|
|
|
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
|
|
|
NM_000282.4(PCCA):c.2119-2A>G
|
rs867315913
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.300+1G>A
|
|
|
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
|
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.414+1G>C
|
|
|
NM_000282.4(PCCA):c.415-1G>C
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.447del (p.Asn149fs)
|
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
|
|
|
NM_000282.4(PCCA):c.716+2T>C
|
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
NM_000282.4(PCCA):c.820-1G>T
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
|
|
|
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
|
|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
NM_000532.5(PCCB):c.1199-1G>A
|
|
|
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
|
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
|
|
|
NM_000532.5(PCCB):c.1399-1G>C
|
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
|
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.183+5G>T
|
|
|
NM_000532.5(PCCB):c.184-1G>A
|
rs886044246
|
|
NM_000532.5(PCCB):c.184-2A>C
|
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
|
|
|
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
|
|
|
NM_000532.5(PCCB):c.543+2T>G
|
|
|
NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)
|
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
NM_000532.5(PCCB):c.763+2T>A
|
rs1553778914
|
|
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
|
|
|
NM_000532.5(PCCB):c.854del (p.Pro285fs)
|
|
|
NM_000532.5(PCCB):c.884+1G>A
|
|
|
NM_000532.5(PCCB):c.967-2A>C
|
rs1553782747
|
|