Case 1
|
8 |
c.1023T>G/p.Tyr341
|
Nonsense |
Pathogenic |
0,517 |
0,334 |
0,149 |
Gastric cancer (McVean et al., 2012McVean GA, Donnelly P, Lunter G, Marchini JL, Myers S, Gupta-Hinch A, Iqbal Z, Mathieson I, Rimmer A, Xifara DK, et al. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56-65.) |
Unavailable |
|
13 |
rs1801552 |
Silent |
– |
|
|
|
Populational studies (Adzhubei et al., 2010Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.) |
Unavailable |
|
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c.2076T>C/p.Ala692= |
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|
Case 2 |
12 |
rs33935154 |
Missense |
Benign
|
0,520 |
0,167 |
0,313 |
Endometrial cancer (Risinger et al., 2010)
|
Unavailable |
|
|
|
|
(SIFT score 0.19) |
|
|
|
Sporadic diffuse gastric cancer (Guilford et al., 2010Guilford P, Humar B and Blair V (2010) Hereditary diffuse gastric cancer: Translation of CDH1 germline mutations into clinical practice. Gastric Cancer 13:1-10.) |
African-American |
|
|
|
|
(PSIC score 0.04) |
|
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Early onset diffuse gastric cancer (Risinger et al., 1994Risinger J, Berchuck A, Kohler M and Boyd J (1994) Mutations of the E-cadherin gene in human gynecologic cancers. Nat Genet 7:98-102.) |
African-American |
|
|
c.1849G>A/p.Ala617Thr |
|
|
|
|
|
Populational studies (Adzhubei et al., 2010Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.
|
Unavailable |
|
13 |
rs1801552 |
Silent |
– |
|
|
|
|
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|
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c.2076T>C/p.Ala692= |
|
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Case 3
|
8 |
c.1023T>G/p.Tyr341
|
Nonsense |
Pathogenic |
0,391 |
0,385 |
0,224 |
Gastric cancer (McVean et al., 2012McVean GA, Donnelly P, Lunter G, Marchini JL, Myers S, Gupta-Hinch A, Iqbal Z, Mathieson I, Rimmer A, Xifara DK, et al. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56-65.) |
Unavailable |
|
13 |
rs1801552 |
Silent |
– |
|
|
|
Populational studies (Adzhubei et al., 2010Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.) |
Unavailable |
|
|
c.2076T>C/p.Ala692= |
|
|
|
|
|
|
|
Case 4 |
13 |
rs1801552 |
Silent |
– |
0,392 |
0,356 |
0,252 |
Populational studies (Adzhubei et al., 2010Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.) |
Unavailable |
|
|
c.2076T>C/p.Ala692= |
|
|
|
|
|
|
|
Case 5 |
13 |
rs1801552 |
Silent |
– |
0,511 |
0,399 |
0,090 |
Populational studies (Adzhubei et al., 2010Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.) |
Unavailable |
|
|
c.2076T>C/p.Ala692= |
|
|
|
|
|
|
|
|
16 |
rs2229044 |
Silent |
– |
|
|
|
Populational studies (Adzhubei et al., 2010Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.) |
|
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c.2634C>T/p.Gly878= |
|
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|
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|
|
Case 6 |
13 |
rs1801552 |
Silent |
– |
0,656 |
0,186 |
0,158 |
Populational studies (Adzhubei et al., 2010Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249.) |
Unavailable |
|
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c.2076T>C/p.Ala692= |
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