NM_000466.3(PEX1):c.-53C>G
|
rs12386703
|
0.07798
|
NM_000466.3(PEX1):c.-43T>G
|
rs572810743
|
0.00058
|
NM_000466.3(PEX1):c.-19A>G
|
rs368326503
|
0.00016
|
NM_000466.3(PEX1):c.23C>A (p.Ala8Glu)
|
rs537242377
|
0.00007
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
NM_000466.3(PEX1):c.-45T>C
|
rs886062509
|
0.00001
|
NM_000466.3(PEX1):c.-77C>G
|
rs1301449696
|
0.00001
|
NM_000466.3(PEX1):c.15T>A (p.Asp5Glu)
|
rs201385649
|
0.00001
|
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)
|
rs1057517501
|
0.00001
|
NM_000466.3(PEX1):c.35G>A (p.Gly12Glu)
|
rs747408581
|
0.00001
|
NM_000466.3(PEX1):c.39C>G (p.Gly13=)
|
rs746171089
|
0.00001
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
NM_000466.3(PEX1):c.87C>T (p.Leu29=)
|
rs1348692744
|
0.00001
|
NC_000007.14:g.92528411_92528711del
|
rs2116299216
|
|
NM_000466.3(PEX1):c.-74A>G
|
rs886062510
|
|
NM_000466.3(PEX1):c.-82C>G
|
rs1169565016
|
|
NM_000466.3(PEX1):c.12C>T (p.Ser4=)
|
rs1793405237
|
|
NM_000466.3(PEX1):c.17G>T (p.Arg6Leu)
|
rs1261327878
|
|
NM_000466.3(PEX1):c.19C>T (p.Leu7=)
|
|
|
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)
|
rs1057517501
|
|
NM_000466.3(PEX1):c.21G>A (p.Leu7=)
|
|
|
NM_000466.3(PEX1):c.24G>T (p.Ala8=)
|
rs1334167324
|
|
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)
|
rs766020928
|
|
NM_000466.3(PEX1):c.31G>T (p.Gly11Trp)
|
|
|
NM_000466.3(PEX1):c.32G>T (p.Gly11Val)
|
|
|
NM_000466.3(PEX1):c.33G>A (p.Gly11=)
|
|
|
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter)
|
rs1793402720
|
|
NM_000466.3(PEX1):c.35G>C (p.Gly12Ala)
|
rs747408581
|
|
NM_000466.3(PEX1):c.36A>G (p.Gly12=)
|
rs775940490
|
|
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup)
|
rs1554378403
|
|
NM_000466.3(PEX1):c.38G>A (p.Gly13Asp)
|
|
|
NM_000466.3(PEX1):c.39C>A (p.Gly13=)
|
rs746171089
|
|
NM_000466.3(PEX1):c.39C>T (p.Gly13=)
|
|
|
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)
|
rs786204704
|
|
NM_000466.3(PEX1):c.42G>A (p.Gly14=)
|
rs1793401122
|
|
NM_000466.3(PEX1):c.43del (p.Ala15fs)
|
|
|
NM_000466.3(PEX1):c.46del (p.Ala16fs)
|
|
|
NM_000466.3(PEX1):c.53C>T (p.Thr18Ile)
|
|
|
NM_000466.3(PEX1):c.54T>C (p.Thr18=)
|
rs2116298890
|
|
NM_000466.3(PEX1):c.54T>G (p.Thr18=)
|
|
|
NM_000466.3(PEX1):c.56_57del (p.Val19fs)
|
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
NM_000466.3(PEX1):c.57G>A (p.Val19=)
|
rs934266708
|
|
NM_000466.3(PEX1):c.60C>G (p.Ala20=)
|
rs2116298824
|
|
NM_000466.3(PEX1):c.61T>C (p.Phe21Leu)
|
|
|
NM_000466.3(PEX1):c.66dup (p.Asn23fs)
|
|
|
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser)
|
rs1793399605
|
|
NM_000466.3(PEX1):c.69C>T (p.Asn23=)
|
|
|
NM_000466.3(PEX1):c.74G>A (p.Arg25His)
|
|
|
NM_000466.3(PEX1):c.75C>A (p.Arg25=)
|
rs2116298678
|
|
NM_000466.3(PEX1):c.75C>T (p.Arg25=)
|
|
|
NM_000466.3(PEX1):c.78C>T (p.Asp26=)
|
|
|
NM_000466.3(PEX1):c.84C>T (p.Phe28=)
|
rs1263087011
|
|
NM_000466.3(PEX1):c.8dup (p.Ser4fs)
|
|
|