Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47310169T>A | CA400034762 | EFCAB13-DT,ITGB3 | c.2332T>A (p.Ser778Thr) c.2266+2532T>A n.363-6387A>T n.227-6387A>T | |
17 | g.47310169T>C | CA123230 | EFCAB13-DT,ITGB3 | c.2332T>C (p.Ser778Pro) c.2266+2532T>C n.363-6387A>G n.227-6387A>G | ClinVar dbSNP |
17 | g.47310169T>G | CA400034764 | EFCAB13-DT,ITGB3 | c.2332T>G (p.Ser778Ala) c.2266+2532T>G n.363-6387A>C n.227-6387A>C | |
17 | g.47310169T= | CA2262615955 | EFCAB13-DT,ITGB3 | c.2332T= (p.Ser778=) c.2266+2532T= n.363-6387A= n.227-6387A= | |
17 | g.47310170C>A | CA400034767 | EFCAB13-DT,ITGB3 | c.2333C>A (p.Ser778Tyr) c.2266+2533C>A n.363-6388G>T n.227-6388G>T | |
17 | g.47310170C= | CA2262615956 | EFCAB13-DT,ITGB3 | c.2333C= (p.Ser778=) c.2266+2533C= n.363-6388G= n.227-6388G= | |
17 | g.47310170C>G | CA400034769 | EFCAB13-DT,ITGB3 | c.2333C>G (p.Ser778Cys) c.2266+2533C>G n.363-6388G>C n.227-6388G>C | |
17 | g.47310170C>T | CA8623519 | EFCAB13-DT,ITGB3 | c.2333C>T (p.Ser778Phe) c.2266+2533C>T n.363-6388G>A n.227-6388G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310171T>A | CA500439077 | EFCAB13-DT,ITGB3 | c.2334T>A (p.Ser778=) c.2266+2534T>A n.363-6389A>T n.227-6389A>T | |
17 | g.47310171T>C | CA500439079 | EFCAB13-DT,ITGB3 | c.2334T>C (p.Ser778=) c.2266+2534T>C n.363-6389A>G n.227-6389A>G | gnomAD v4 |
17 | g.47310171T>G | CA500439081 | EFCAB13-DT,ITGB3 | c.2334T>G (p.Ser778=) c.2266+2534T>G n.363-6389A>C n.227-6389A>C | |
17 | g.47310172A= | CA2262615957 | EFCAB13-DT,ITGB3 | c.2335A= (p.Thr779=) c.2266+2535A= n.363-6390T= n.227-6390T= | |
17 | g.47310172A>C | CA400034772 | EFCAB13-DT,ITGB3 | c.2335A>C (p.Thr779Pro) c.2266+2535A>C n.363-6390T>G n.227-6390T>G | |
17 | g.47310172A>G | CA8623520 | EFCAB13-DT,ITGB3 | c.2335A>G (p.Thr779Ala) c.2266+2535A>G n.363-6390T>C n.227-6390T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310172A>T | CA400034773 | EFCAB13-DT,ITGB3 | c.2335A>T (p.Thr779Ser) c.2266+2535A>T n.363-6390T>A n.227-6390T>A | |
17 | g.47310173C>A | CA400034775 | EFCAB13-DT,ITGB3 | c.2336C>A (p.Thr779Asn) c.2266+2536C>A n.363-6391G>T n.227-6391G>T | |
17 | g.47310173C>G | CA400034777 | EFCAB13-DT,ITGB3 | c.2336C>G (p.Thr779Ser) c.2266+2536C>G n.363-6391G>C n.227-6391G>C | |
17 | g.47310173C>T | CA400034779 | EFCAB13-DT,ITGB3 | c.2336C>T (p.Thr779Ile) c.2266+2536C>T n.363-6391G>A n.227-6391G>A | gnomAD v4 |
17 | g.47310174C>A | CA500439085 | EFCAB13-DT,ITGB3 | c.2337C>A (p.Thr779=) c.2266+2537C>A n.363-6392G>T n.227-6392G>T | COSMIC COSMIC |
17 | g.47310174C>G | CA500439083 | EFCAB13-DT,ITGB3 | c.2337C>G (p.Thr779=) c.2266+2537C>G n.363-6392G>C n.227-6392G>C | |
17 | g.47310174C>T | CA500439082 | EFCAB13-DT,ITGB3 | c.2337C>T (p.Thr779=) c.2266+2537C>T n.363-6392G>A n.227-6392G>A | gnomAD v4 |
17 | g.47310175T>A | CA400034781 | EFCAB13-DT,ITGB3 | c.2338T>A (p.Phe780Ile) c.2266+2538T>A n.363-6393A>T n.227-6393A>T | |
17 | g.47310175T>C | CA400034783 | EFCAB13-DT,ITGB3 | c.2338T>C (p.Phe780Leu) c.2266+2538T>C n.363-6393A>G n.227-6393A>G | |
17 | g.47310175T>G | CA400034785 | EFCAB13-DT,ITGB3 | c.2338T>G (p.Phe780Val) c.2266+2538T>G n.363-6393A>C n.227-6393A>C | |
17 | g.47310176T>A | CA400034787 | EFCAB13-DT,ITGB3 | c.2339T>A (p.Phe780Tyr) c.2266+2539T>A n.363-6394A>T n.227-6394A>T | |
17 | g.47310176T>C | CA400034789 | EFCAB13-DT,ITGB3 | c.2339T>C (p.Phe780Ser) c.2266+2539T>C n.363-6394A>G n.227-6394A>G | |
17 | g.47310176T>G | CA400034791 | EFCAB13-DT,ITGB3 | c.2339T>G (p.Phe780Cys) c.2266+2539T>G n.363-6394A>C n.227-6394A>C | |
17 | g.47310177C>A | CA400034793 | EFCAB13-DT,ITGB3 | c.2340C>A (p.Phe780Leu) c.2266+2540C>A n.363-6395G>T n.227-6395G>T | ClinVar |
17 | g.47310177C>G | CA400034795 | EFCAB13-DT,ITGB3 | c.2340C>G (p.Phe780Leu) c.2266+2540C>G n.363-6395G>C n.227-6395G>C | |
17 | g.47310177C>T | CA500439087 | EFCAB13-DT,ITGB3 | c.2340C>T (p.Phe780=) c.2266+2540C>T n.363-6395G>A n.227-6395G>A | |
17 | g.47310178A>C | CA400034800 | EFCAB13-DT,ITGB3 | c.2341A>C (p.Thr781Pro) c.2266+2541A>C n.363-6396T>G n.227-6396T>G | |
17 | g.47310178A>G | CA400034799 | EFCAB13-DT,ITGB3 | c.2341A>G (p.Thr781Ala) c.2266+2541A>G n.363-6396T>C n.227-6396T>C | |
17 | g.47310178A>T | CA400034797 | EFCAB13-DT,ITGB3 | c.2341A>T (p.Thr781Ser) c.2266+2541A>T n.363-6396T>A n.227-6396T>A | |
17 | g.47310179C>A | CA400034802 | EFCAB13-DT,ITGB3 | c.2342C>A (p.Thr781Asn) c.2266+2542C>A n.363-6397G>T n.227-6397G>T | |
17 | g.47310179C= | CA2262615958 | EFCAB13-DT,ITGB3 | c.2342C= (p.Thr781=) c.2266+2542C= n.363-6397G= n.227-6397G= | |
17 | g.47310179C>G | CA400034805 | EFCAB13-DT,ITGB3 | c.2342C>G (p.Thr781Ser) c.2266+2542C>G n.363-6397G>C n.227-6397G>C | |
17 | g.47310179C>T | CA8623521 | EFCAB13-DT,ITGB3 | c.2342C>T (p.Thr781Ile) c.2266+2542C>T n.363-6397G>A n.227-6397G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310180C>A | CA500439092 | EFCAB13-DT,ITGB3 | c.2343C>A (p.Thr781=) c.2266+2543C>A n.363-6398G>T n.227-6398G>T | gnomAD v4 |
17 | g.47310180C>G | CA500439091 | EFCAB13-DT,ITGB3 | c.2343C>G (p.Thr781=) c.2266+2543C>G n.363-6398G>C n.227-6398G>C | gnomAD v4 |
17 | g.47310180C>T | CA500439093 | EFCAB13-DT,ITGB3 | c.2343C>T (p.Thr781=) c.2266+2543C>T n.363-6398G>A n.227-6398G>A | |
17 | g.47310181A>C | CA400034807 | EFCAB13-DT,ITGB3 | c.2344A>C (p.Asn782His) c.2266+2544A>C n.363-6399T>G n.227-6399T>G | |
17 | g.47310181A>G | CA400034808 | EFCAB13-DT,ITGB3 | c.2344A>G (p.Asn782Asp) c.2266+2544A>G n.363-6399T>C n.227-6399T>C | |
17 | g.47310181A>T | CA400034811 | EFCAB13-DT,ITGB3 | c.2344A>T (p.Asn782Tyr) c.2266+2544A>T n.363-6399T>A n.227-6399T>A | |
17 | g.47310182A= | CA2262615959 | EFCAB13-DT,ITGB3 | c.2345A= (p.Asn782=) c.2266+2545A= n.363-6400T= n.227-6400T= | |
17 | g.47310182A>C | CA400034814 | EFCAB13-DT,ITGB3 | c.2345A>C (p.Asn782Thr) c.2266+2545A>C n.363-6400T>G n.227-6400T>G | |
17 | g.47310182A>G | CA400034816 | EFCAB13-DT,ITGB3 | c.2345A>G (p.Asn782Ser) c.2266+2545A>G n.363-6400T>C n.227-6400T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310182A>T | CA400034818 | EFCAB13-DT,ITGB3 | c.2345A>T (p.Asn782Ile) c.2266+2545A>T n.363-6400T>A n.227-6400T>A | |
17 | g.47310183T>A | CA400034820 | EFCAB13-DT,ITGB3 | c.2346T>A (p.Asn782Lys) c.2266+2546T>A n.363-6401A>T n.227-6401A>T | |
17 | g.47310183T>C | CA500439097 | EFCAB13-DT,ITGB3 | c.2346T>C (p.Asn782=) c.2266+2546T>C n.363-6401A>G n.227-6401A>G | COSMIC COSMIC |
17 | g.47310183T>G | CA400034821 | EFCAB13-DT,ITGB3 | c.2346T>G (p.Asn782Lys) c.2266+2546T>G n.363-6401A>C n.227-6401A>C |