NM_000255.4(MMUT):c.277C>T (p.Arg93Cys)
|
rs746274670
|
0.00006
|
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys)
|
rs201741770
|
0.00005
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
NM_000255.4(MMUT):c.1108A>C (p.Thr370Pro)
|
rs368790885
|
0.00001
|
NM_000255.4(MMUT):c.1130C>A (p.Ala377Glu)
|
rs121918250
|
0.00001
|
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)
|
rs769922244
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.295A>G (p.Met99Val)
|
rs1467385866
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.571G>A (p.Ala191Thr)
|
rs1313120333
|
0.00001
|
NM_000255.4(MMUT):c.1083+1G>A
|
rs1554160198
|
|
NM_000255.4(MMUT):c.1083+1G>T
|
|
|
NM_000255.4(MMUT):c.1108A>G (p.Thr370Ala)
|
|
|
NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)
|
|
|
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
|
rs1767553642
|
|
NM_000255.4(MMUT):c.1279G>A (p.Gly427Ser)
|
|
|
NM_000255.4(MMUT):c.1296A>C (p.Glu432Asp)
|
|
|
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro)
|
rs1554159871
|
|
NM_000255.4(MMUT):c.1332+1G>C
|
|
|
NM_000255.4(MMUT):c.1333-8_1333-3del
|
|
|
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro)
|
rs368746965
|
|
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro)
|
rs864309738
|
|
NM_000255.4(MMUT):c.1664C>T (p.Ala555Val)
|
|
|
NM_000255.4(MMUT):c.1675A>G (p.Arg559Gly)
|
|
|
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser)
|
rs775593146
|
|
NM_000255.4(MMUT):c.1760A>C (p.Tyr587Ser)
|
rs1767285693
|
|
NM_000255.4(MMUT):c.1792_1808+6del
|
rs2127415155
|
|
NM_000255.4(MMUT):c.1809-1G>C
|
|
|
NM_000255.4(MMUT):c.1809-2A>T
|
rs1767243474
|
|
NM_000255.4(MMUT):c.1870C>A (p.Gln624Lys)
|
|
|
NM_000255.4(MMUT):c.1873G>A (p.Asp625Asn)
|
|
|
NM_000255.4(MMUT):c.1875T>A (p.Asp625Glu)
|
|
|
NM_000255.4(MMUT):c.1897G>C (p.Val633Leu)
|
|
|
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
|
|
|
NM_000255.4(MMUT):c.1943G>C (p.Gly648Ala)
|
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1957-899A>G
|
rs1767133183
|
|
NM_000255.4(MMUT):c.2008G>C (p.Gly670Arg)
|
|
|
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val)
|
rs1164271240
|
|
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe)
|
rs1164271240
|
|
NM_000255.4(MMUT):c.2081G>A (p.Arg694Gln)
|
|
|
NM_000255.4(MMUT):c.2150G>A (p.Gly717Asp)
|
|
|
NM_000255.4(MMUT):c.2167G>A (p.Gly723Ser)
|
|
|
NM_000255.4(MMUT):c.2168G>A (p.Gly723Asp)
|
|
|
NM_000255.4(MMUT):c.256C>A (p.Pro86Thr)
|
|
|
NM_000255.4(MMUT):c.257C>G (p.Pro86Arg)
|
|
|
NM_000255.4(MMUT):c.296T>C (p.Met99Thr)
|
rs1767770379
|
|
NM_000255.4(MMUT):c.322C>G (p.Arg108Gly)
|
rs121918257
|
|
NM_000255.4(MMUT):c.323G>T (p.Arg108Leu)
|
|
|
NM_000255.4(MMUT):c.360T>G (p.Asn120Lys)
|
|
|
NM_000255.4(MMUT):c.372_374dup (p.Lys124_Asp125insGlu)
|
rs796052009
|
|
NM_000255.4(MMUT):c.410C>G (p.Ala137Gly)
|
rs941483851
|
|
NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)
|
rs565348836
|
|
NM_000255.4(MMUT):c.446A>G (p.Asp149Gly)
|
|
|
NM_000255.4(MMUT):c.457G>A (p.Val153Ile)
|
|
|
NM_000255.4(MMUT):c.466G>A (p.Asp156Asn)
|
|
|
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys)
|
rs1561959114
|
|
NM_000255.4(MMUT):c.571G>T (p.Ala191Ser)
|
|
|
NM_000255.4(MMUT):c.590C>A (p.Ala197Glu)
|
|
|
NM_000255.4(MMUT):c.61G>T (p.Glu21Ter)
|
rs1767780776
|
|
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)
|
rs121918258
|
|
NM_000255.4(MMUT):c.688A>G (p.Thr230Ala)
|
|
|
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg)
|
rs879253833
|
|
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)
|
rs864309736
|
|
NM_000255.4(MMUT):c.793C>T (p.His265Tyr)
|
|
|
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro)
|
rs1179778233
|
|
NM_000255.4(MMUT):c.912-1G>A
|
rs1561957527
|
|
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr)
|
rs1085307929
|
|
NM_000255.4(MMUT):c.925T>G (p.Trp309Gly)
|
rs2127418704
|
|
NM_000255.4(MMUT):c.927G>C (p.Trp309Cys)
|
|
|
NM_000255.4(MMUT):c.970G>T (p.Ala324Ser)
|
|
|
NM_000255.4(MMUT):c.976A>G (p.Arg326Gly)
|
rs1085308002
|
|