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.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000282.4(PCCA):c.232-1G>A
|
rs794727620
|
0.00002
|
NM_000282.4(PCCA):c.689G>A (p.Arg230His)
|
rs747943045
|
0.00002
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.177C>G (p.His59Gln)
|
rs757134877
|
0.00001
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp)
|
rs778242891
|
0.00001
|
NC_000003.11:g.(?_135980784)_(135980917_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136002809_?)del
|
|
|
NC_000013.10:g.(?_100953694)_(100962182_?)dup
|
|
|
NC_000013.10:g.(?_100953704)_(100962172_?)dup
|
|
|
NC_000013.10:g.(?_100982805)_(101020838_?)dup
|
|
|
NC_000013.11:g.(?_100154969)_(100273356_?)del
|
|
|
NC_000013.11:g.(?_100301460)_(100425731_?)del
|
|
|
NC_000013.11:g.(?_100425613)_(100425751_?)del
|
|
|
NC_000013.11:g.(?_100449242)_(100491683_?)del
|
|
|
NM_000282.4(PCCA):c.106-1G>A
|
rs769819121
|
|
NM_000282.4(PCCA):c.1065+1G>A
|
|
|
NM_000282.4(PCCA):c.1065+1G>C
|
rs2063433750
|
|
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
|
|
|
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu)
|
rs1301904623
|
|
NM_000282.4(PCCA):c.1209+2T>G
|
|
|
NM_000282.4(PCCA):c.1210-1G>A
|
|
|
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
|
|
|
NM_000282.4(PCCA):c.1285-2A>G
|
|
|
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
|
|
|
NM_000282.4(PCCA):c.1430-1G>A
|
rs2152733805
|
|
NM_000282.4(PCCA):c.1430-2A>T
|
|
|
NM_000282.4(PCCA):c.1540+2T>A
|
rs1555422449
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.183+2T>C
|
rs1555342593
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
NM_000282.4(PCCA):c.1846-1G>A
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1846-1G>T
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.2040+2T>G
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
NM_000282.4(PCCA):c.232-2A>G
|
rs747968405
|
|
NM_000282.4(PCCA):c.232-2A>T
|
rs747968405
|
|
NM_000282.4(PCCA):c.300+1G>A
|
|
|
NM_000282.4(PCCA):c.300+2T>G
|
|
|
NM_000282.4(PCCA):c.414+1G>T
|
rs2152383049
|
|
NM_000282.4(PCCA):c.449_468+443del
|
rs2152387124
|
|
NM_000282.4(PCCA):c.468+1G>C
|
|
|
NM_000282.4(PCCA):c.468+2T>C
|
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
NM_000282.4(PCCA):c.637+1G>A
|
rs1265911468
|
|
NM_000282.4(PCCA):c.637+2T>A
|
rs2152522245
|
|
NM_000282.4(PCCA):c.638-1G>A
|
|
|
NM_000282.4(PCCA):c.638-2A>G
|
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.716+1G>C
|
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
NM_000282.4(PCCA):c.819+1G>A
|
|
|
NM_000282.4(PCCA):c.820-1G>A
|
rs2063103516
|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
NM_000532.5(PCCB):c.1091-1G>A
|
rs2108237784
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
|
|
|
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
|
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
|
|
|
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
|
|
|
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)
|
rs753037539
|
|
NM_000532.5(PCCB):c.1198+1G>A
|
rs1935333494
|
|
NM_000532.5(PCCB):c.1288_1299+5del
|
rs1250541852
|
|
NM_000532.5(PCCB):c.1300-1G>A
|
|
|
NM_000532.5(PCCB):c.1300-1G>C
|
|
|
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
|
|
|
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
|
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
|
|
|
NM_000532.5(PCCB):c.1395_1398+8del
|
|
|
NM_000532.5(PCCB):c.1398+2del
|
rs2108239135
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
|
|
|
NM_000532.5(PCCB):c.183+1G>A
|
rs398123460
|
|
NM_000532.5(PCCB):c.183+1G>C
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000532.5(PCCB):c.303+1G>T
|
rs1941662983
|
|
NM_000532.5(PCCB):c.304-1G>A
|
|
|
NM_000532.5(PCCB):c.304-2A>G
|
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser)
|
rs1941676220
|
|
NM_000532.5(PCCB):c.372+1G>A
|
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
NM_000532.5(PCCB):c.373-1G>C
|
rs2108144374
|
|
NM_000532.5(PCCB):c.429+1G>A
|
rs1317017233
|
|
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
|
|
|
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly)
|
rs879253815
|
|
NM_000532.5(PCCB):c.543+1G>A
|
rs2108146835
|
|
NM_000532.5(PCCB):c.543+1G>C
|
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
|
|
|
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg)
|
rs2108182082
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
|
|
|
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
|
|
|
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
|
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
NM_000532.5(PCCB):c.77_183+30delinsCC
|
|
|
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly)
|
rs1560017781
|
|
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
|
|
|
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg)
|
rs780837200
|
|