NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
NM_000282.4(PCCA):c.627A>G (p.Ala209=)
|
rs538229
|
0.14245
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_000282.4(PCCA):c.1429+7A>G
|
rs16957276
|
0.01356
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_000282.4(PCCA):c.300+3930C>T
|
rs767934206
|
0.00105
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
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.2118+988G>A
|
rs556040424
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
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.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
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.437T>C (p.Leu146Pro)
|
rs774457925
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
|
|
|
NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
|
|
|
NC_000013.10:g.(101077986_101101505)_(101101560_101167680)dup
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)
|
rs2152894046
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.2061T>G (p.Ile687Met)
|
|
|
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
|
|
|
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys)
|
rs936088423
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.720T>C (p.Asp240=)
|
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|