NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
|
rs1165198558
|
0.00001
|
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp)
|
rs1234167788
|
0.00001
|
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)
|
rs1301904623
|
0.00001
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
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.231+1G>C
|
rs972937270
|
0.00001
|
NM_000282.4(PCCA):c.415-2A>C
|
rs746286209
|
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_000282.4(PCCA):c.863G>A (p.Arg288Lys)
|
rs879253810
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NC_000013.10:g.(?_100741259)_(100741489_?)del
|
|
|
NC_000013.10:g.(?_100807223)_(100809604_?)del
|
|
|
NC_000013.10:g.(?_100861576)_(100955262_?)del
|
|
|
NC_000013.10:g.(?_100888086)_(100992523_?)del
|
|
|
NC_000013.10:g.(?_100909829)_(101101579_?)del
|
|
|
NC_000013.10:g.(?_100909839)_(100992523_?)del
|
|
|
NC_000013.10:g.(?_100920933)_(100925610_?)del
|
|
|
NC_000013.10:g.(?_100925430)_(100925620_?)del
|
|
|
NC_000013.10:g.(?_100953694)_(100992533_?)del
|
|
|
NC_000013.10:g.(?_100953694)_(101078005_?)del
|
|
|
NC_000013.10:g.(?_100971208)_(100992469_?)del
|
|
|
NC_000013.10:g.(?_100992391)_(100992533_?)del
|
|
|
NC_000013.10:g.(?_101020716)_(101101569_?)del
|
|
|
NC_000013.10:g.(?_101167661)_(101167841_?)del
|
|
|
NC_000013.10:g.(?_101179909)_(101180026_?)del
|
|
|
NC_000013.11:g.(?_100111831)_(100112071_?)del
|
|
|
NC_000013.11:g.(?_100209322)_(100235888_?)del
|
|
|
NC_000013.11:g.(?_100268679)_(100268793_?)del
|
|
|
NC_000013.11:g.(?_100301450)_(100425741_?)del
|
|
|
NM_000282.4(PCCA):c.1003_1012del (p.Val335fs)
|
|
|
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter)
|
rs398123297
|
|
NM_000282.4(PCCA):c.105+1G>A
|
rs879253804
|
|
NM_000282.4(PCCA):c.1067_1068insCT (p.Glu357fs)
|
rs2152683826
|
|
NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter)
|
|
|
NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)
|
|
|
NM_000282.4(PCCA):c.1178dup (p.Trp394fs)
|
|
|
NM_000282.4(PCCA):c.1187T>G (p.Val396Gly)
|
rs1555411216
|
|
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
|
rs1295357399
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1226_1227del (p.Phe409fs)
|
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
|
|
NM_000282.4(PCCA):c.127C>T (p.Gln43Ter)
|
rs2047400320
|
|
NM_000282.4(PCCA):c.1284+2dup
|
rs776978090
|
|
NM_000282.4(PCCA):c.1285-1416A>G
|
rs1362195093
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
|
rs2152692650
|
|
NM_000282.4(PCCA):c.131delinsATT (p.Cys44fs)
|
rs1594090133
|
|
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
|
rs1595236063
|
|
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.1364_1365del (p.Tyr455fs)
|
|
|
NM_000282.4(PCCA):c.1415dup (p.Asn472fs)
|
|
|
NM_000282.4(PCCA):c.1418_1419del (p.Tyr473fs)
|
|
|
NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter)
|
rs2069404553
|
|
NM_000282.4(PCCA):c.145del (p.Arg49fs)
|
rs2047402577
|
|
NM_000282.4(PCCA):c.1477del (p.Arg493fs)
|
rs746733688
|
|
NM_000282.4(PCCA):c.1495del (p.Ile499fs)
|
|
|
NM_000282.4(PCCA):c.1539del (p.Gly514fs)
|
rs1566945996
|
|
NM_000282.4(PCCA):c.1558_1559dup (p.Ser520fs)
|
|
|
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
|
rs2071086995
|
|
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
|
rs1344574242
|
|
NM_000282.4(PCCA):c.16del (p.Val6fs)
|
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
NM_000282.4(PCCA):c.1746+1G>A
|
rs2075369142
|
|
NM_000282.4(PCCA):c.1746+2T>C
|
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter)
|
|
|
NM_000282.4(PCCA):c.1772_1778dup (p.Ser594fs)
|
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)
|
rs2152894046
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
NM_000282.4(PCCA):c.1845+1G>A
|
rs1595860868
|
|
NM_000282.4(PCCA):c.1845+2T>G
|
|
|
NM_000282.4(PCCA):c.1846-2_1852del
|
rs2152925644
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
NM_000282.4(PCCA):c.184del (p.Thr62fs)
|
rs879253812
|
|
NM_000282.4(PCCA):c.1899+2_1899+3insCT
|
rs2081058900
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter)
|
|
|
NM_000282.4(PCCA):c.1920del (p.Arg641fs)
|
rs1594099731
|
|
NM_000282.4(PCCA):c.1977_1978dup (p.Ser660fs)
|
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
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.2098_2104del (p.Thr700fs)
|
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
NM_000282.4(PCCA):c.2119-1G>C
|
|
|
NM_000282.4(PCCA):c.2119-2A>G
|
rs867315913
|
|
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs)
|
rs1317003529
|
|
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)
|
rs2152278559
|
|
NM_000282.4(PCCA):c.234del (p.Ile79fs)
|
|
|
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs)
|
rs999936193
|
|
NM_000282.4(PCCA):c.270dup (p.Ala91fs)
|
|
|
NM_000282.4(PCCA):c.284A>G (p.Asp95Gly)
|
rs879253801
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.2T>A (p.Met1Lys)
|
rs372093520
|
|
NM_000282.4(PCCA):c.305del (p.His102fs)
|
rs1594413545
|
|
NM_000282.4(PCCA):c.322G>T (p.Glu108Ter)
|
|
|
NM_000282.4(PCCA):c.334_335del (p.Val112fs)
|
rs1594413897
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.415-1G>A
|
|
|
NM_000282.4(PCCA):c.415-2A>G
|
rs746286209
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.431G>T (p.Gly144Val)
|
rs879253808
|
|
NM_000282.4(PCCA):c.43G>T (p.Gly15Ter)
|
rs1593996636
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.446del (p.Asn149fs)
|
rs1206838893
|
|
NM_000282.4(PCCA):c.449_450del (p.Lys150fs)
|
|
|
NM_000282.4(PCCA):c.467T>A (p.Leu156Ter)
|
rs760387660
|
|
NM_000282.4(PCCA):c.468+1G>A
|
rs766139678
|
|
NM_000282.4(PCCA):c.497del (p.Pro166fs)
|
|
|
NM_000282.4(PCCA):c.49_53del (p.Arg17fs)
|
|
|
NM_000282.4(PCCA):c.505_506del (p.His169fs)
|
rs2152478652
|
|
NM_000282.4(PCCA):c.506dup (p.His169fs)
|
rs2152478688
|
|
NM_000282.4(PCCA):c.548T>G (p.Leu183Ter)
|
rs879253811
|
|
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
|
rs2059069232
|
|
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del)
|
rs2152478820
|
|
NM_000282.4(PCCA):c.600+1G>A
|
rs879253802
|
|
NM_000282.4(PCCA):c.600+1G>T
|
rs879253802
|
|
NM_000282.4(PCCA):c.615dup (p.Val206fs)
|
rs1566767338
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.656dup (p.Ala220fs)
|
rs1594961338
|
|
NM_000282.4(PCCA):c.672dup (p.Gly225fs)
|
rs1164986524
|
|
NM_000282.4(PCCA):c.699G>A (p.Trp233Ter)
|
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)
|
rs1594992191
|
|
NM_000282.4(PCCA):c.737dup (p.Gln247fs)
|
|
|
NM_000282.4(PCCA):c.789del (p.Phe263fs)
|
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000282.4(PCCA):c.85del (p.Ala29fs)
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.862A>T (p.Arg288Ter)
|
rs121964957
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
|
rs1595033018
|
|
NM_000282.4(PCCA):c.877C>G (p.Gln293Glu)
|
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
NM_000282.4(PCCA):c.891_892del (p.Lys298fs)
|
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000282.4(PCCA):c.955C>T (p.Gln319Ter)
|
|
|
NM_000282.4(PCCA):c.959C>A (p.Ala320Asp)
|
|
|
NM_000282.4(PCCA):c.978del (p.Ala326_Val327insTer)
|
|
|