NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
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NM_032040.5(CCDC8):c.963del (p.Ala323fs)
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rs746873023
|
0.00004
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NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp)
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rs1295466248
|
0.00001
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NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro)
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rs759300846
|
0.00001
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NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter)
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rs1561892336
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NM_014780.5(CUL7):c.1563_1569+5del
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NM_014780.5(CUL7):c.1838del (p.Pro613fs)
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NM_014780.5(CUL7):c.206dup (p.Met69fs)
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rs1561898352
|
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NM_014780.5(CUL7):c.2398-2A>G
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|
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NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs)
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NM_014780.5(CUL7):c.2862+1G>A
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NM_014780.5(CUL7):c.2862+2T>G
|
rs2150321832
|
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NM_014780.5(CUL7):c.2863-1G>C
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NM_014780.5(CUL7):c.3061G>A (p.Glu1021Lys)
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rs2150320060
|
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NM_014780.5(CUL7):c.3089del (p.Pro1030fs)
|
rs1561881909
|
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NM_014780.5(CUL7):c.3247del (p.Gln1083fs)
|
rs1763636120
|
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NM_014780.5(CUL7):c.3295del (p.Leu1099fs)
|
rs2150317151
|
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NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
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NM_014780.5(CUL7):c.3645+1G>A
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NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter)
|
rs1561875767
|
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NM_014780.5(CUL7):c.3722_3749dup (p.Val1252fs)
|
rs766471384
|
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NM_014780.5(CUL7):c.4115del (p.Glu1372fs)
|
rs1561873941
|
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NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del)
|
rs1340929933
|
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NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)
|
rs1559155954
|
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NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)
|
rs1559155800
|
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NM_015311.3(OBSL1):c.1277_1282+5del
|
rs760929207
|
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NM_015311.3(OBSL1):c.1534+5G>C
|
rs775172922
|
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NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
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NM_015311.3(OBSL1):c.2292_2320dup (p.Ile774delinsArgArgTrpMetGlyAlaAsnThrValTer)
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NM_015311.3(OBSL1):c.2635del (p.Cys879fs)
|
rs1696644780
|
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NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
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NM_015311.3(OBSL1):c.4085del (p.Leu1362fs)
|
rs2106028466
|
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NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
|
|
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NM_015311.3(OBSL1):c.5556_5557insTC (p.Lys1853fs)
|
|
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NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
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|
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NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter)
|
rs559473497
|
|
NM_032040.5(CCDC8):c.203_204del (p.Gln68fs)
|
rs1973248576
|
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NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
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|
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NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
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|
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NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs)
|
rs1973237748
|
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NM_032040.5(CCDC8):c.817_829del (p.Ser273fs)
|
rs774464372
|
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NM_032040.5(CCDC8):c.860del (p.Gln287fs)
|
rs778999067
|
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NM_032040.5(CCDC8):c.976del (p.Asp326fs)
|
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