NM_001082971.2(DDC):c.714+4A>T
|
rs200362242
|
0.00005
|
NM_001082971.2(DDC):c.272C>T (p.Ala91Val)
|
rs137853211
|
0.00004
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
NM_001082971.2(DDC):c.823G>A (p.Ala275Thr)
|
rs137853212
|
0.00003
|
NM_001082971.2(DDC):c.206C>T (p.Thr69Met)
|
rs777956037
|
0.00002
|
NM_001082971.2(DDC):c.260C>T (p.Pro87Leu)
|
rs746244631
|
0.00002
|
NM_001082971.2(DDC):c.446G>C (p.Ser149Thr)
|
rs971183744
|
0.00002
|
NM_001082971.2(DDC):c.1234C>T (p.Arg412Trp)
|
rs542063660
|
0.00001
|
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys)
|
rs142110773
|
0.00001
|
NM_001082971.2(DDC):c.304G>A (p.Gly102Ser)
|
rs137853207
|
0.00001
|
NM_001082971.2(DDC):c.82C>T (p.Gln28Ter)
|
rs755511752
|
0.00001
|
NM_001082971.2(DDC):c.853C>T (p.Arg285Trp)
|
rs886062372
|
0.00001
|
NC_000007.13:g.(?_50563038)_(50563125_?)del
|
|
|
NC_000007.13:g.(?_50571671)_(50571777_?)del
|
|
|
NC_000007.13:g.(?_50605538)_(50611783_?)del
|
|
|
NM_000790.4(DDC):c.316del
|
rs1364054304
|
|
NM_001082971.2(DDC):c.1013_1016dup (p.Asp339fs)
|
|
|
NM_001082971.2(DDC):c.1055del (p.Pro352fs)
|
rs2042497215
|
|
NM_001082971.2(DDC):c.1107T>A (p.Tyr369Ter)
|
|
|
NM_001082971.2(DDC):c.1123C>T (p.Gln375Ter)
|
rs777681757
|
|
NM_001082971.2(DDC):c.1228T>G (p.Cys410Gly)
|
rs2042419194
|
|
NM_001082971.2(DDC):c.1233del (p.Arg412fs)
|
rs1344017069
|
|
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
|
|
|
NM_001082971.2(DDC):c.128del (p.Pro43fs)
|
|
|
NM_001082971.2(DDC):c.1297dup (p.Ile433fs)
|
rs760629324
|
|
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
|
|
|
NM_001082971.2(DDC):c.1340G>A (p.Arg447His)
|
|
|
NM_001082971.2(DDC):c.1385G>C (p.Arg462Pro)
|
|
|
NM_001082971.2(DDC):c.140C>A (p.Pro47His)
|
|
|
NM_001082971.2(DDC):c.175G>A (p.Asp59Asn)
|
rs931702374
|
|
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter)
|
rs138828136
|
|
NM_001082971.2(DDC):c.201+5G>C
|
rs2044715580
|
|
NM_001082971.2(DDC):c.254C>A (p.Ser85Ter)
|
|
|
NM_001082971.2(DDC):c.362G>A (p.Trp121Ter)
|
|
|
NM_001082971.2(DDC):c.439A>C (p.Ser147Arg)
|
rs137853210
|
|
NM_001082971.2(DDC):c.480del (p.Thr161fs)
|
rs2044130662
|
|
NM_001082971.2(DDC):c.48_49delinsAG (p.Tyr16_Met17delinsTer)
|
rs2153550461
|
|
NM_001082971.2(DDC):c.526C>T (p.Gln176Ter)
|
rs773004040
|
|
NM_001082971.2(DDC):c.564_568dup (p.Gln190fs)
|
rs2044127544
|
|
NM_001082971.2(DDC):c.568C>T (p.Gln190Ter)
|
rs2153545926
|
|
NM_001082971.2(DDC):c.665T>C (p.Leu222Pro)
|
|
|
NM_001082971.2(DDC):c.749C>T (p.Ser250Phe)
|
rs137853208
|
|
NM_001082971.2(DDC):c.764T>A (p.Leu255Ter)
|
|
|
NM_001082971.2(DDC):c.801G>A (p.Trp267Ter)
|
|
|
NM_001082971.2(DDC):c.867_871TGGAG[1] (p.Glu292fs)
|
|
|
NM_001082971.2(DDC):c.925T>C (p.Phe309Leu)
|
rs137853209
|
|
NM_001082971.2(DDC):c.995A>G (p.Tyr332Cys)
|
rs2153536214
|
|
NM_001242889.2(DDC):c.435+8518_435+8519del
|
|
|