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    Carboxypeptidase A1 (CPA1)

    For citations click on nucleotide change

    Last modified: DEC/17/2017

    Region
    Nucleotide change
    Amino acid change
    Number of CP carriers reported
    Number of non-CP carriers reported
    Clinical significance
    5 prime c.-128C>T 1 Uncertain
    5 prime c.-127G>A 4 13 Benign
    5 prime c.-104G>A 1 Uncertain
    5 prime c.-48C>T 1 Uncertain
    exon 1 c.5G>A p.R2Q 8 Benign
    exon 1 c.14T>C p.L5P 1 Likely pathogenic
    intron 1 c.65+44delG 1 Uncertain
    intron 1 c.65+70_72delGAG 3 8 Benign
    intron 1 c.65+82_85delCAGA 1 Uncertain
    intron 1 c.65+143A>G common variant common variant Benign
    intron 1 c.65+174C>T 38 (1 hm) 170 (1 hm) Benign
    intron 1 c.66-210C>T 2 1 Uncertain
    intron 1 c.66-195insTT 1 Uncertain
    intron 1 c.66-104A>G 10 Benign
    exon 2 c.79C>T p.R27X 1 10 Benign
    exon 2 c.80G>A p.R27Q 1 Benign
    exon 2 c.80G>C p.R27P 1 Likely pathogenic
    exon 2 c.94G>C p.D32H 1 Benign
    exon 2 c.101C>T p.A34V 1 Benign
    intron 2 c.147+23C>T 3 28 Benign
    intron 2 c.147+69G>A 3 Benign
    intron 2 c.147+76T>C 1 Uncertain
    intron 2 c.147+157C>G 2 Likely benign
    intron 2 c.147+195C>T 1 Uncertain
    intron 2 c.147+227C>T 1 13 Benign
    intron 2 c.148-73 G>A 1 Uncertain
    intron 2 c.148-49G>A 1 Uncertain
    intron 2 c.148-41C>T 1 Uncertain
    intron 2 c.148-21G>A 1 Uncertain
    intron 2 c.148-19C>T 1 Uncertain
    intron 2 c.148-14C>T 1 Uncertain
    intron 2 c.148-11G>A 1 Uncertain
    intron 2 c.148-6C>T 1 Uncertain
    intron 2 c.148-1G>A p.L50_E127del 1 Likely pathogenic
    exon 3 c.165G>C p.G55= common variant common variant Benign
    exon 3 c.197G>A p.R66Q 1 3 Benign
    exon 3 c.241T>C p.S81P 1 Benign
    exon 3 c.281A>G p.Q94R 1 22 Benign
    exon 3 c.298G>A p.E100K 1 Likely pathogenic
    exon 3 c.313T>C p.F105L 1 Benign
    exon 3 c.321C>G p.F107L 1 Benign
    exon 3 c.323G>A p.R108Q 2 Benign
    exon 3 c.334C>T p.R112C 1 Benign
    exon 3 c.357C>A p.Y119X 1 Uncertain
    exon 3 c.371C>T p.T124I 11 59 Benign
    intron 3 c.381+57T>C 1 9 Benign
    intron 3 c.382-23T>A 1 Uncertain
    exon 4 c.389A>C p.D130A 1 Benign
    exon 4 c.397G>C p.D133H 1 Likely pathogenic
    exon 4 c.410C>G p.A137G 10 12 Benign
    exon 4 c.411G>A p.A137= 1 Likely benign
    exon 4 c.474C>T p.Y158= common variant common variant Benign
    intron 4 c.483+12A>G 1 1 Uncertain
    intron 4 c.483+28G>A 1 Uncertain
    intron 4 c.483+28G>C 4 3 Benign
    exon 5 c.486C>T p.F162= 2 Likely benign
    exon 5 c.491C>T p.T164M 2 Likely pathogenic
    exon 5 c.492G>A p.T164= 2 6 Benign
    exon 5 c.497G>A p.G166D 6 31 Benign
    exon 5 c.506G>A p.R169H 8 2 Uncertain
    exon 5 c.527C>T p.T176M 1 1 Benign
    exon 5 c.531C>A p.G177= 2 Likely benign
    exon 5 c.542G>A p.R181Q 1 Likely benign
    intron 5 c.586-15C>G 3 11 Benign
    intron 5 c.586-8C>T 1 Uncertain
    exon 6 c.600C>T p.Y200= common variant common variant Benign
    exon 6 c.604C>A p.Q202K 1 Benign
    exon 6 c.621C>T p.T207= 2 Benign
    exon 6 c.622G>A p.A208T 124 (2 hm) 418 (2 hm) Benign
    exon 6 c.622G>T p.A208S 1 Benign
    exon 6 c.630C>T p.L210= 1 Likely benign
    exon 6 c.673G>A p.G225S 2 Pathogenic
    exon 6 c.686C>T p.T229M 1 Pathogenic
    exon 6 c.687G>T p.T229= 1 Likely benign
    exon 6 c.695C>T p.T232M 1 Benign
    exon 6 c.696G>A p.T232= 2 Benign
    intron 6 c.696+5C>T 1 Uncertain
    exon 7 c.710G>A p.R237H 2 Benign
    exon 7 c.713A>T p.K238M 1 Pathogenic
    exon 7 c.719G>A p.R240Q 1 Likely pathogenic
    exon 7 c.751G>A p.V251M 7 Pathogenic
    exon 7 c.758C>G p.P253R 1 Pathogenic
    exon 7 c.764G>T p.R255M 1 Likely benign
    exon 7 c.768C>G p.N256K 7 Pathogenic
    exon 7 c.775G>A p.A259T 1 Benign
    intron 7 c.787+35A>T 1 Uncertain
    intron 7 c.787+43G>A 1 Uncertain
    intron 7 c.787+56C>T 1 Uncertain
    intron 7 c.787+73C>T 1 Uncertain
    intron 7 c.787+74G>A 4 Benign
    intron 7 c.787+74G>C 1 Uncertain
    intron 7 c.787+115G>C 1 Uncertain
    intron 7 c.787+229A>G 2 Likely benign
    intron 7 c.787+234G>C common variant common variant Benign
    intron 7 c.787+261T>G 1 Uncertain
    intron 7 c.787+271C>T 1 1 Uncertain
    intron 7 c.788-29G>A 1 Uncertain
    intron 7 c.788-39T>C 1 Uncertain
    intron 7 c.788-5delC 1 Uncertain
    intron 7 c.788-5C>G 1 Uncertain
    exon 8 c.809C>G p.P270R 1 Pathogenic
    exon 8 c.811T>C p.C271R 2 Pathogenic
    exon 8 c.816G>A p.S272= 2 Benign
    exon 8 c.828C>T p.H276= 2 Benign
    exon 8 c.829G>A p.G277S 1 Pathogenic
    exon 8 c.839C>A p.A280D 1 Pathogenic
    exon 8 c.844T>C p.S282P 5 1 Pathogenic
    exon 8 c.847G>A p.E283K 2 Pathogenic
    exon 8 c.867T>C p.I289= 1 7 Benign
    exon 8 c.916C>T p.H306Y 1 Likely benign
    exon 8 c.922T>C p.Y308H 5 Pathogenic
    exon 8 c.941A>G p.Y314C 1 Likely pathogenic
    exon 8 c.954_955delCA p.Y318X 3 Pathogenic
    exon 8 c.982G>A p.E328K 1 Likely benign
    intron 8 c.987+46G>T 1 Uncertain
    intron 8 c.987+58G>A 1 Uncertain
    intron 8 c.987+144G>A 2 Likely benign
    intron 8 c.987+182G>C common variant common variant Benign
    intron 8 c.987+197C>A 1 Uncertain
    intron 8 c.987+237G>T 1 Uncertain
    intron 8 c.988-73C>G 1 Uncertain
    intron 8 c.988-38_47del 1 Uncertain
    intron 8 c.988-37G>C 1 Uncertain
    intron 8 c.988-10T>A 1 Uncertain
    exon 9 c.1009G>C p.V337L 1 Benign
    exon 9 c.1010T>C p.V337A 1 Benign
    exon 9 c.1021G>A p.A341T 38 55 Benign
    exon 9 c.1029C>T p.L343= 3 14 Benign
    intron 9 c.1072+1G>T p.D330fs 1 Likely pathogenic
    intron 9 c.1072+16G>C 3 Uncertain
    intron 9 c.1073-39G>A 1 Uncertain
    intron 9 c.1073-32A>G common variant common variant Benign
    intron 9 c.1073-2A>G p.Y358fs 4 Pathogenic
    exon 10 c.1079-27_1111dup60 p.T368_Y369ins20 1 Likely pathogenic
    exon 10 c.1085G>A p.G362E 1 Pathogenic
    exon 10 c.1091C>T p.T364I 1 Benign
    exon 10 c.1115G>A p.G372D 1 (1 hm) Likely benign
    exon 10 c.1126T>C p.S376P 2 Pathogenic
    exon 10 c.1138G>A p.E380K 1 Likely benign
    exon 10 c.1144C>T p.R382W 5 Pathogenic
    exon 10 c.1157G>A p.R386H 3 Benign
    exon 10 c.1193C>T p.P398L 1 Benign
    exon 10 c.1203G>C p.K401N 1 Benign
    exon 10 c.1203G>A p.K401= 1 1 Likely benign
    exon 10 c.1208C>T p.T403M 2 Likely benign
    exon 10 c.1209G>A p.T403= 2 Uncertain
    exon 10 c.1217C>T p.A406V 1 Likely benign
    exon 10 c.1217C>G p.A406G 1 Benign
    exon 10 c.1247delA p.N416fs 1 Uncertain
    exon 10 c.1251C>A p.H417Q 1 Uncertain
    exon 10 c.1253C>T p.P418L 1 Uncertain
    3 prime c.*8delC 1 1 Uncertain
    3 prime c.*16C>A 1 1 Uncertain
    3 prime c.*69G>A 1 4 Benign
    3 prime c.*101G>A 4 Benign