Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
17 | g.47310184A>C | CA400034823 | EFCAB13-DT,ITGB3 | c.2347A>C (p.Ile783Leu) c.2266+2547A>C n.363-6402T>G n.227-6402T>G | |
17 | g.47310184A>G | CA400034825 | EFCAB13-DT,ITGB3 | c.2347A>G (p.Ile783Val) c.2266+2547A>G n.363-6402T>C n.227-6402T>C | gnomAD v4 |
17 | g.47310184A>T | CA400034827 | EFCAB13-DT,ITGB3 | c.2347A>T (p.Ile783Phe) c.2266+2547A>T n.363-6402T>A n.227-6402T>A | |
17 | g.47310185T>A | CA400034834 | EFCAB13-DT,ITGB3 | c.2348T>A (p.Ile783Asn) c.2266+2548T>A n.363-6403A>T n.227-6403A>T | |
17 | g.47310185T>C | CA400034829 | EFCAB13-DT,ITGB3 | c.2348T>C (p.Ile783Thr) c.2266+2548T>C n.363-6403A>G n.227-6403A>G | |
17 | g.47310185T>G | CA400034831 | EFCAB13-DT,ITGB3 | c.2348T>G (p.Ile783Ser) c.2266+2548T>G n.363-6403A>C n.227-6403A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47310185T= | CA2262615960 | EFCAB13-DT,ITGB3 | c.2348T= (p.Ile783=) c.2266+2548T= n.363-6403A= n.227-6403A= | |
17 | g.47310186C>A | CA500439102 | EFCAB13-DT,ITGB3 | c.2349C>A (p.Ile783=) c.2266+2549C>A n.363-6404G>T n.227-6404G>T | |
17 | g.47310186C>G | CA400034835 | EFCAB13-DT,ITGB3 | c.2349C>G (p.Ile783Met) c.2266+2549C>G n.363-6404G>C n.227-6404G>C | |
17 | g.47310186C>T | CA500439101 | EFCAB13-DT,ITGB3 | c.2349C>T (p.Ile783=) c.2266+2549C>T n.363-6404G>A n.227-6404G>A | |
17 | g.47310187A>C | CA400034837 | EFCAB13-DT,ITGB3 | c.2350A>C (p.Thr784Pro) c.2266+2550A>C n.363-6405T>G n.227-6405T>G | gnomAD v4 |
17 | g.47310187A>G | CA400034839 | EFCAB13-DT,ITGB3 | c.2350A>G (p.Thr784Ala) c.2266+2550A>G n.363-6405T>C n.227-6405T>C | |
17 | g.47310187A>T | CA400034840 | EFCAB13-DT,ITGB3 | c.2350A>T (p.Thr784Ser) c.2266+2550A>T n.363-6405T>A n.227-6405T>A | |
17 | g.47310189_47310192dup | CA645595642 | EFCAB13-DT,ITGB3 | c.2352_2355dup (p.Arg786ValfsTer?) c.2266+2552_2266+2555dup n.363-6408_363-6405dup n.227-6408_227-6405dup | COSMIC COSMIC |
17 | g.47310188C>A | CA400034843 | EFCAB13-DT,ITGB3 | c.2351C>A (p.Thr784Lys) c.2266+2551C>A n.363-6406G>T n.227-6406G>T | |
17 | g.47310188C= | CA2262615961 | EFCAB13-DT,ITGB3 | c.2351C= (p.Thr784=) c.2266+2551C= n.363-6406G= n.227-6406G= | |
17 | g.47310188C>G | CA400034844 | EFCAB13-DT,ITGB3 | c.2351C>G (p.Thr784Arg) c.2266+2551C>G n.363-6406G>C n.227-6406G>C | |
17 | g.47310188C>T | CA8623522 | EFCAB13-DT,ITGB3 | c.2351C>T (p.Thr784Met) c.2266+2551C>T n.363-6406G>A n.227-6406G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310189G>A | CA8623523 | EFCAB13-DT,ITGB3 | c.2352G>A (p.Thr784=) c.2266+2552G>A n.363-6407C>T n.227-6407C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310189G>C | CA500439105 | EFCAB13-DT,ITGB3 | c.2352G>C (p.Thr784=) c.2266+2552G>C n.363-6407C>G n.227-6407C>G | COSMIC COSMIC |
17 | g.47310189G= | CA2262615962 | EFCAB13-DT,ITGB3 | c.2352G= (p.Thr784=) c.2266+2552G= n.363-6407C= n.227-6407C= | |
17 | g.47310189G>T | CA500439104 | EFCAB13-DT,ITGB3 | c.2352G>T (p.Thr784=) c.2266+2552G>T n.363-6407C>A n.227-6407C>A | |
17 | g.47310190T>A | CA400034849 | EFCAB13-DT,ITGB3 | c.2353T>A (p.Tyr785Asn) c.2266+2553T>A n.363-6408A>T n.227-6408A>T | |
17 | g.47310190T>C | CA400034851 | EFCAB13-DT,ITGB3 | c.2353T>C (p.Tyr785His) c.2266+2553T>C n.363-6408A>G n.227-6408A>G | gnomAD v4 |
17 | g.47310190T>G | CA400034853 | EFCAB13-DT,ITGB3 | c.2353T>G (p.Tyr785Asp) c.2266+2553T>G n.363-6408A>C n.227-6408A>C | |
17 | g.47310191A= | CA2262615963 | EFCAB13-DT,ITGB3 | c.2354A= (p.Tyr785=) c.2266+2554A= n.363-6409T= n.227-6409T= | |
17 | g.47310191A>C | CA400034857 | EFCAB13-DT,ITGB3 | c.2354A>C (p.Tyr785Ser) c.2266+2554A>C n.363-6409T>G n.227-6409T>G | |
17 | g.47310191A>G | CA400034859 | EFCAB13-DT,ITGB3 | c.2354A>G (p.Tyr785Cys) c.2266+2554A>G n.363-6409T>C n.227-6409T>C | dbSNP |
17 | g.47310191A>T | CA400034855 | EFCAB13-DT,ITGB3 | c.2354A>T (p.Tyr785Phe) c.2266+2554A>T n.363-6409T>A n.227-6409T>A | |
17 | g.47310192C>A | CA400034861 | EFCAB13-DT,ITGB3 | c.2355C>A (p.Tyr785Ter) c.2266+2555C>A n.363-6410G>T n.227-6410G>T | |
17 | g.47310192C>G | CA400034862 | EFCAB13-DT,ITGB3 | c.2355C>G (p.Tyr785Ter) c.2266+2555C>G n.363-6410G>C n.227-6410G>C | |
17 | g.47310192C>T | CA500439109 | EFCAB13-DT,ITGB3 | c.2355C>T (p.Tyr785=) c.2266+2555C>T n.363-6410G>A n.227-6410G>A | |
17 | g.47310193C>A | CA500439110 | EFCAB13-DT,ITGB3 | c.2356C>A (p.Arg786=) c.2266+2556C>A n.363-6411G>T n.227-6411G>T | |
17 | g.47310193C= | CA2262615964 | EFCAB13-DT,ITGB3 | c.2356C= (p.Arg786=) c.2266+2556C= n.363-6411G= n.227-6411G= | |
17 | g.47310193C>G | CA400034865 | EFCAB13-DT,ITGB3 | c.2356C>G (p.Arg786Gly) c.2266+2556C>G n.363-6411G>C n.227-6411G>C | gnomAD v4 |
17 | g.47310193C>T | CA400034866 | EFCAB13-DT,ITGB3 | c.2356C>T (p.Arg786Trp) c.2266+2556C>T n.363-6411G>A n.227-6411G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310194G>A | CA8623524 | EFCAB13-DT,ITGB3 | c.2357G>A (p.Arg786Gln) c.2266+2557G>A n.363-6412C>T n.227-6412C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.47310194G>C | CA400034869 | EFCAB13-DT,ITGB3 | c.2357G>C (p.Arg786Pro) c.2266+2557G>C n.363-6412C>G n.227-6412C>G | |
17 | g.47310194G= | CA2262615965 | EFCAB13-DT,ITGB3 | c.2357G= (p.Arg786=) c.2266+2557G= n.363-6412C= n.227-6412C= | |
17 | g.47310194G>T | CA400034871 | EFCAB13-DT,ITGB3 | c.2357G>T (p.Arg786Leu) c.2266+2557G>T n.363-6412C>A n.227-6412C>A | |
17 | g.47310195G>A | CA500439116 | EFCAB13-DT,ITGB3 | c.2358G>A (p.Arg786=) c.2266+2558G>A n.363-6413C>T n.227-6413C>T | |
17 | g.47310195G>C | CA500439117 | EFCAB13-DT,ITGB3 | c.2358G>C (p.Arg786=) c.2266+2558G>C n.363-6413C>G n.227-6413C>G | |
17 | g.47310195G>T | CA500439118 | EFCAB13-DT,ITGB3 | c.2358G>T (p.Arg786=) c.2266+2558G>T n.363-6413C>A n.227-6413C>A | |
17 | g.47310196G>A | CA400034873 | EFCAB13-DT,ITGB3 | c.2359G>A (p.Gly787Ser) c.2266+2559G>A n.363-6414C>T n.227-6414C>T | |
17 | g.47310196G>C | CA400034874 | EFCAB13-DT,ITGB3 | c.2359G>C (p.Gly787Arg) c.2266+2559G>C n.363-6414C>G n.227-6414C>G | |
17 | g.47310196G>T | CA400034876 | EFCAB13-DT,ITGB3 | c.2359G>T (p.Gly787Cys) c.2266+2559G>T n.363-6414C>A n.227-6414C>A | |
17 | g.47310196_47310198del | CA2638437953 | EFCAB13-DT,ITGB3 | c.2359_2361del (p.Gly787del) c.2266+2559_2266+2561del n.363-6416_363-6414del n.227-6416_227-6414del | gnomAD v4 |
17 | g.47310197G>A | CA400034879 | EFCAB13-DT,ITGB3 | c.2360G>A (p.Gly787Asp) c.2266+2560G>A n.363-6415C>T n.227-6415C>T | ClinVar dbSNP |
17 | g.47310197G>C | CA400034881 | EFCAB13-DT,ITGB3 | c.2360G>C (p.Gly787Ala) c.2266+2560G>C n.363-6415C>G n.227-6415C>G | |
17 | g.47310197G= | CA2262615966 | EFCAB13-DT,ITGB3 | c.2360G= (p.Gly787=) c.2266+2560G= n.363-6415C= n.227-6415C= | |
17 | g.47310197G>T | CA8623525 | EFCAB13-DT,ITGB3 | c.2360G>T (p.Gly787Val) c.2266+2560G>T n.363-6415C>A n.227-6415C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310198C>A | CA500439120 | EFCAB13-DT,ITGB3 | c.2361C>A (p.Gly787=) c.2266+2561C>A n.363-6416G>T n.227-6416G>T | |
17 | g.47310198C>G | CA500439122 | EFCAB13-DT,ITGB3 | c.2361C>G (p.Gly787=) c.2266+2561C>G n.363-6416G>C n.227-6416G>C | |
17 | g.47310198C>T | CA500439121 | EFCAB13-DT,ITGB3 | c.2361C>T (p.Gly787=) c.2266+2561C>T n.363-6416G>A n.227-6416G>A | |
17 | g.47310199A>C | CA400034907 | EFCAB13-DT,ITGB3 | c.2362A>C (p.Thr788Pro) c.2266+2562A>C n.363-6417T>G n.227-6417T>G | |
17 | g.47310199A>G | CA400034905 | EFCAB13-DT,ITGB3 | c.2362A>G (p.Thr788Ala) c.2266+2562A>G n.363-6417T>C n.227-6417T>C | |
17 | g.47310199A>T | CA400034884 | EFCAB13-DT,ITGB3 | c.2362A>T (p.Thr788Ser) c.2266+2562A>T n.363-6417T>A n.227-6417T>A | |
17 | g.47310200C>A | CA400034909 | EFCAB13-DT,ITGB3 | c.2363C>A (p.Thr788Asn) c.2266+2563C>A n.363-6418G>T n.227-6418G>T | |
17 | g.47310200C>G | CA400034910 | EFCAB13-DT,ITGB3 | c.2363C>G (p.Thr788Ser) c.2266+2563C>G n.363-6418G>C n.227-6418G>C | |
17 | g.47310200C>T | CA400034911 | EFCAB13-DT,ITGB3 | c.2363C>T (p.Thr788Ile) c.2266+2563C>T n.363-6418G>A n.227-6418G>A | |
17 | g.47310201T>A | CA500439126 | EFCAB13-DT,ITGB3 | c.2364T>A (p.Thr788=) c.2266+2564T>A n.363-6419A>T n.227-6419A>T | |
17 | g.47310201T>C | CA500439128 | EFCAB13-DT,ITGB3 | c.2364T>C (p.Thr788=) c.2266+2564T>C n.363-6419A>G n.227-6419A>G | |
17 | g.47310201T>G | CA500439124 | EFCAB13-DT,ITGB3 | c.2364T>G (p.Thr788=) c.2266+2564T>G n.363-6419A>C n.227-6419A>C | |
17 | g.47310202T>A | CA400034913 | EFCAB13-DT,ITGB3 | c.2365T>A (p.Ter789Lys) c.2266+2565T>A n.363-6420A>T n.227-6420A>T | |
17 | g.47310202T>C | CA400034915 | EFCAB13-DT,ITGB3 | c.2365T>C (p.Ter789Gln) c.2266+2565T>C n.363-6420A>G n.227-6420A>G | |
17 | g.47310202T>G | CA400034917 | EFCAB13-DT,ITGB3 | c.2365T>G (p.Ter789Glu) c.2266+2565T>G n.363-6420A>C n.227-6420A>C | |
17 | g.47310205_47310210del | CA2638437954 | EFCAB13-DT,ITGB3 | c.*1_*6del (n.*1_*6del) c.2266+2568_2266+2573del n.363-6425_363-6420del n.227-6425_227-6420del | gnomAD v4 |
17 | g.47310203A>C | CA400034918 | EFCAB13-DT,ITGB3 | c.2366A>C (p.Ter789Ser) c.2266+2566A>C n.363-6421T>G n.227-6421T>G | |
17 | g.47310203A>G | CA500439129 | EFCAB13-DT,ITGB3 | c.2366A>G (p.Ter789=) c.2266+2566A>G n.363-6421T>C n.227-6421T>C | |
17 | g.47310203A>T | CA400034919 | EFCAB13-DT,ITGB3 | c.2366A>T (p.Ter789Leu) c.2266+2566A>T n.363-6421T>A n.227-6421T>A | |
17 | g.47310204A= | CA2262615967 | EFCAB13-DT,ITGB3 | c.2367A= (p.Ter789=) c.2266+2567A= n.363-6422T= n.227-6422T= | |
17 | g.47310204A>C | CA400034920 | EFCAB13-DT,ITGB3 | c.2367A>C (p.Ter789Tyr) c.2266+2567A>C n.363-6422T>G n.227-6422T>G | |
17 | g.47310204A>G | CA500439131 | EFCAB13-DT,ITGB3 | c.2367A>G (p.Ter789=) c.2266+2567A>G n.363-6422T>C n.227-6422T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47310204A>T | CA400034921 | EFCAB13-DT,ITGB3 | c.2367A>T (p.Ter789Tyr) c.2266+2567A>T n.363-6422T>A n.227-6422T>A | |
17 | g.47310205T>A | CA2638437955 | EFCAB13-DT,ITGB3 | c.*1T>A (n.*1T>A) c.2266+2568T>A n.363-6423A>T n.227-6423A>T | gnomAD v4 |
17 | g.47310205T>C | CA2638437956 | EFCAB13-DT,ITGB3 | c.*1T>C (n.*1T>C) c.2266+2568T>C n.363-6423A>G n.227-6423A>G | gnomAD v4 |
17 | g.47310206G>A | CA2638437957 | EFCAB13-DT,ITGB3 | c.*2G>A (n.*2G>A) c.2266+2569G>A n.363-6424C>T n.227-6424C>T | gnomAD v4 |
17 | g.47310206G>T | CA2576302377 | EFCAB13-DT,ITGB3 | c.*2G>T (n.*2G>T) c.2266+2569G>T n.363-6424C>A n.227-6424C>A | |
17 | g.47310208_47310209delinsTA | CA2262615968 | EFCAB13-DT,ITGB3 | c.*4_*5delinsTA (n.*4_*5delinsTA) c.2266+2571_2266+2572delinsTA n.363-6427_363-6426delinsTA n.227-6427_227-6426delinsTA | |
17 | g.47310210del | CA626383749 | EFCAB13-DT,ITGB3 | c.*6del (n.*6del) c.2266+2573del n.363-6427del n.227-6427del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47310212C= | CA2262615969 | EFCAB13-DT,ITGB3 | c.*8C= (n.*8C=) c.2266+2575C= n.363-6430G= n.227-6430G= | |
17 | g.47310212C>T | CA626383750 | EFCAB13-DT,ITGB3 | c.*8C>T (n.*8C>T) c.2266+2575C>T n.363-6430G>A n.227-6430G>A | dbSNP gnomAD v2 |
17 | g.47310213A= | CA2262615970 | EFCAB13-DT,ITGB3 | c.*9A= (n.*9A=) c.2266+2576A= n.363-6431T= n.227-6431T= | |
17 | g.47310213A>G | CA2262615971 | EFCAB13-DT,ITGB3 | c.*9A>G (n.*9A>G) c.2266+2576A>G n.363-6431T>C n.227-6431T>C | dbSNP |
17 | g.47310214G>A | CA8623526 | EFCAB13-DT,ITGB3 | c.*10G>A (n.*10G>A) c.2266+2577G>A n.363-6432C>T n.227-6432C>T | dbSNP ExAC gnomAD v4 |
17 | g.47310214G= | CA2262615972 | EFCAB13-DT,ITGB3 | c.*10G= (n.*10G=) c.2266+2577G= n.363-6432C= n.227-6432C= | |
17 | g.47310215T>G | CA984236294 | EFCAB13-DT,ITGB3 | c.*11T>G (n.*11T>G) c.2266+2578T>G n.363-6433A>C n.227-6433A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47310215T= | CA2262615973 | EFCAB13-DT,ITGB3 | c.*11T= (n.*11T=) c.2266+2578T= n.363-6433A= n.227-6433A= | |
17 | g.47310216C= | CA2262615974 | EFCAB13-DT,ITGB3 | c.*12C= (n.*12C=) c.2266+2579C= n.363-6434G= n.227-6434G= | |
17 | g.47310216C>T | CA8623527 | EFCAB13-DT,ITGB3 | c.*12C>T (n.*12C>T) c.2266+2579C>T n.363-6434G>A n.227-6434G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310218T>A | CA2576302378 | EFCAB13-DT,ITGB3 | c.*14T>A (n.*14T>A) c.2266+2581T>A n.363-6436A>T n.227-6436A>T | |
17 | g.47310218T= | CA2262615975 | EFCAB13-DT,ITGB3 | c.*14T= (n.*14T=) c.2266+2581T= n.363-6436A= n.227-6436A= | |
17 | g.47310219C>T | CA2638437958 | EFCAB13-DT,ITGB3 | c.*15C>T (n.*15C>T) c.2266+2582C>T n.363-6437G>A n.227-6437G>A | gnomAD v4 |
17 | g.47310220_47310237dup | CA626383751 | EFCAB13-DT,ITGB3 | c.*16_*33dup (n.*16_*33dup) c.2266+2583_2266+2600dup n.363-6454_363-6437dup n.227-6454_227-6437dup | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47310226T>C | CA291229233 | EFCAB13-DT,ITGB3 | c.*22T>C (n.*22T>C) c.2266+2589T>C n.363-6444A>G n.227-6444A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310226T= | CA2262615976 | EFCAB13-DT,ITGB3 | c.*22T= (n.*22T=) c.2266+2589T= n.363-6444A= n.227-6444A= | |
17 | g.47310228A>C | CA2576302379 | EFCAB13-DT,ITGB3 | c.*24A>C (n.*24A>C) c.2266+2591A>C n.363-6446T>G n.227-6446T>G | gnomAD v4 |
17 | g.47310229T>C | CA2638437959 | EFCAB13-DT,ITGB3 | c.*25T>C (n.*25T>C) c.2266+2592T>C n.363-6447A>G n.227-6447A>G | gnomAD v4 |
17 | g.47310230T>C | CA2638437960 | EFCAB13-DT,ITGB3 | c.*26T>C (n.*26T>C) c.2266+2593T>C n.363-6448A>G n.227-6448A>G | gnomAD v4 |
17 | g.47310231A>G | CA2576302381 | EFCAB13-DT,ITGB3 | c.*27A>G (n.*27A>G) c.2266+2594A>G n.363-6449T>C n.227-6449T>C | gnomAD v4 |
17 | g.47310233C>A | CA2638437961 | EFCAB13-DT,ITGB3 | c.*29C>A (n.*29C>A) c.2266+2596C>A n.363-6451G>T n.227-6451G>T | gnomAD v4 |
17 | g.47310235G>A | CA2576302382 | EFCAB13-DT,ITGB3 | c.*31G>A (n.*31G>A) c.2266+2598G>A n.363-6453C>T n.227-6453C>T | |
17 | g.47310236C>A | CA2638437962 | EFCAB13-DT,ITGB3 | c.*32C>A (n.*32C>A) c.2266+2599C>A n.363-6454G>T n.227-6454G>T | gnomAD v4 |
17 | g.47310236C= | CA2262615977 | EFCAB13-DT,ITGB3 | c.*32C= (n.*32C=) c.2266+2599C= n.363-6454G= n.227-6454G= | |
17 | g.47310236C>T | CA626383752 | EFCAB13-DT,ITGB3 | c.*32C>T (n.*32C>T) c.2266+2599C>T n.363-6454G>A n.227-6454G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47310237C>A | CA2638437963 | EFCAB13-DT,ITGB3 | c.*33C>A (n.*33C>A) c.2266+2600C>A n.363-6455G>T n.227-6455G>T | gnomAD v4 |
17 | g.47310237C= | CA2262615978 | EFCAB13-DT,ITGB3 | c.*33C= (n.*33C=) c.2266+2600C= n.363-6455G= n.227-6455G= | |
17 | g.47310237C>T | CA626383753 | EFCAB13-DT,ITGB3 | c.*33C>T (n.*33C>T) c.2266+2600C>T n.363-6455G>A n.227-6455G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47310238T>C | CA2638437965 | EFCAB13-DT,ITGB3 | c.*34T>C (n.*34T>C) c.2266+2601T>C n.363-6456A>G n.227-6456A>G | gnomAD v4 |
17 | g.47310238T>G | CA2638437964 | EFCAB13-DT,ITGB3 | c.*34T>G (n.*34T>G) c.2266+2601T>G n.363-6456A>C n.227-6456A>C | gnomAD v4 |
17 | g.47310239G>A | CA2638437966 | EFCAB13-DT,ITGB3 | c.*35G>A (n.*35G>A) c.2266+2602G>A n.363-6457C>T n.227-6457C>T | gnomAD v4 |
17 | g.47310241G>C | CA2576302384 | EFCAB13-DT,ITGB3 | c.*37G>C (n.*37G>C) c.2266+2604G>C n.363-6459C>G n.227-6459C>G | gnomAD v4 |
17 | g.47310242C>A | CA2638437967 | EFCAB13-DT,ITGB3 | c.*38C>A (n.*38C>A) c.2266+2605C>A n.363-6460G>T n.227-6460G>T | gnomAD v4 |
17 | g.47310242C= | CA2262615979 | EFCAB13-DT,ITGB3 | c.*38C= (n.*38C=) c.2266+2605C= n.363-6460G= n.227-6460G= | |
17 | g.47310242C>T | CA8623528 | EFCAB13-DT,ITGB3 | c.*38C>T (n.*38C>T) c.2266+2605C>T n.363-6460G>A n.227-6460G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310243C= | CA2262615980 | EFCAB13-DT,ITGB3 | c.*39C= (n.*39C=) c.2266+2606C= n.363-6461G= n.227-6461G= | |
17 | g.47310243C>G | CA2638437968 | EFCAB13-DT,ITGB3 | c.*39C>G (n.*39C>G) c.2266+2606C>G n.363-6461G>C n.227-6461G>C | gnomAD v4 |
17 | g.47310243C>T | CA8623529 | EFCAB13-DT,ITGB3 | c.*39C>T (n.*39C>T) c.2266+2606C>T n.363-6461G>A n.227-6461G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310244_47310250del | CA2576302386 | EFCAB13-DT,ITGB3 | c.*40_*46del (n.*40_*46del) c.2266+2607_2266+2613del n.363-6468_363-6462del n.227-6468_227-6462del | |
17 | g.47310245C>A | CA2638437969 | EFCAB13-DT,ITGB3 | c.*41C>A (n.*41C>A) c.2266+2608C>A n.363-6463G>T n.227-6463G>T | gnomAD v4 |
17 | g.47310245C= | CA2262615981 | EFCAB13-DT,ITGB3 | c.*41C= (n.*41C=) c.2266+2608C= n.363-6463G= n.227-6463G= | |
17 | g.47310245C>G | CA291229236 | EFCAB13-DT,ITGB3 | c.*41C>G (n.*41C>G) c.2266+2608C>G n.363-6463G>C n.227-6463G>C | dbSNP |
17 | g.47310245C>T | CA291229237 | EFCAB13-DT,ITGB3 | c.*41C>T (n.*41C>T) c.2266+2608C>T n.363-6463G>A n.227-6463G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310246G>A | CA8623530 | EFCAB13-DT,ITGB3 | c.*42G>A (n.*42G>A) c.2266+2609G>A n.363-6464C>T n.227-6464C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310246G>C | CA8623531 | EFCAB13-DT,ITGB3 | c.*42G>C (n.*42G>C) c.2266+2609G>C n.363-6464C>G n.227-6464C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310246G= | CA2262615982 | EFCAB13-DT,ITGB3 | c.*42G= (n.*42G=) c.2266+2609G= n.363-6464C= n.227-6464C= | |
17 | g.47310247A>G | CA2638437970 | EFCAB13-DT,ITGB3 | c.*43A>G (n.*43A>G) c.2266+2610A>G n.363-6465T>C n.227-6465T>C | gnomAD v4 |
17 | g.47310248T>C | CA2638437971 | EFCAB13-DT,ITGB3 | c.*44T>C (n.*44T>C) c.2266+2611T>C n.363-6466A>G n.227-6466A>G | gnomAD v4 |
17 | g.47310249T>A | CA2638437972 | EFCAB13-DT,ITGB3 | c.*45T>A (n.*45T>A) c.2266+2612T>A n.363-6467A>T n.227-6467A>T | gnomAD v4 |
17 | g.47310249T>G | CA2638437973 | EFCAB13-DT,ITGB3 | c.*45T>G (n.*45T>G) c.2266+2612T>G n.363-6467A>C n.227-6467A>C | gnomAD v4 |
17 | g.47310250G>C | CA2638437974 | EFCAB13-DT,ITGB3 | c.*46G>C (n.*46G>C) c.2266+2613G>C n.363-6468C>G n.227-6468C>G | gnomAD v4 |
17 | g.47310250G>T | CA2638437975 | EFCAB13-DT,ITGB3 | c.*46G>T (n.*46G>T) c.2266+2613G>T n.363-6468C>A n.227-6468C>A | gnomAD v4 |
17 | g.47310251C= | CA2262615983 | EFCAB13-DT,ITGB3 | c.*47C= (n.*47C=) c.2266+2614C= n.363-6469G= n.227-6469G= | |
17 | g.47310251C>G | CA2262615984 | EFCAB13-DT,ITGB3 | c.*47C>G (n.*47C>G) c.2266+2614C>G n.363-6469G>C n.227-6469G>C | dbSNP |
17 | g.47310252A>G | CA2638437976 | EFCAB13-DT,ITGB3 | c.*48A>G (n.*48A>G) c.2266+2615A>G n.363-6470T>C n.227-6470T>C | gnomAD v4 |
17 | g.47310252A>T | CA2576302388 | EFCAB13-DT,ITGB3 | c.*48A>T (n.*48A>T) c.2266+2615A>T n.363-6470T>A n.227-6470T>A | |
17 | g.47310254dup | CA2638437977 | EFCAB13-DT,ITGB3 | c.*50dup (n.*50dup) c.2266+2617dup n.363-6471dup n.227-6471dup | gnomAD v4 |
17 | g.47310254G>A | CA2638437979 | EFCAB13-DT,ITGB3 | c.*50G>A (n.*50G>A) c.2266+2617G>A n.363-6472C>T n.227-6472C>T | gnomAD v4 |
17 | g.47310254_47310257dup | CA2638437978 | EFCAB13-DT,ITGB3 | c.*50_*53dup (n.*50_*53dup) c.2266+2617_2266+2620dup n.363-6475_363-6472dup n.227-6475_227-6472dup | gnomAD v4 |
17 | g.47310255del | CA2638437980 | EFCAB13-DT,ITGB3 | c.*51del (n.*51del) c.2266+2618del n.363-6473del n.227-6473del | gnomAD v4 |
17 | g.47310256G>C | CA2262615986 | EFCAB13-DT,ITGB3 | c.*52G>C (n.*52G>C) c.2266+2619G>C n.363-6474C>G n.227-6474C>G | dbSNP gnomAD v4 |
17 | g.47310256G= | CA2262615985 | EFCAB13-DT,ITGB3 | c.*52G= (n.*52G=) c.2266+2619G= n.363-6474C= n.227-6474C= | |
17 | g.47310257T>A | CA2638437981 | EFCAB13-DT,ITGB3 | c.*53T>A (n.*53T>A) c.2266+2620T>A n.363-6475A>T n.227-6475A>T | gnomAD v4 |
17 | g.47310258C>A | CA2638437982 | EFCAB13-DT,ITGB3 | c.*54C>A (n.*54C>A) c.2266+2621C>A n.363-6476G>T n.227-6476G>T | gnomAD v4 |
17 | g.47310258C>G | CA2638437983 | EFCAB13-DT,ITGB3 | c.*54C>G (n.*54C>G) c.2266+2621C>G n.363-6476G>C n.227-6476G>C | gnomAD v4 |
17 | g.47310258_47310259insT | CA2638437984 | EFCAB13-DT,ITGB3 | c.*54_*55insT (n.*54_*55insT) c.2266+2621_2266+2622insT n.363-6477_363-6476insA n.227-6477_227-6476insA | gnomAD v4 |
17 | g.47310259C= | CA2262615987 | EFCAB13-DT,ITGB3 | c.*55C= (n.*55C=) c.2266+2622C= n.363-6477G= n.227-6477G= | |
17 | g.47310259C>T | CA291229240 | EFCAB13-DT,ITGB3 | c.*55C>T (n.*55C>T) c.2266+2622C>T n.363-6477G>A n.227-6477G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310260C>A | CA2576302390 | EFCAB13-DT,ITGB3 | c.*56C>A (n.*56C>A) c.2266+2623C>A n.363-6478G>T n.227-6478G>T | |
17 | g.47310260C>T | CA500439133 | EFCAB13-DT,ITGB3 | c.*56C>T (n.*56C>T) c.2266+2623C>T n.363-6478G>A n.227-6478G>A | |
17 | g.47310262G>T | CA2638437985 | EFCAB13-DT,ITGB3 | c.*58G>T (n.*58G>T) c.2266+2625G>T n.363-6480C>A n.227-6480C>A | gnomAD v4 |
17 | g.47310263C>A | CA2576302391 | EFCAB13-DT,ITGB3 | c.*59C>A (n.*59C>A) c.2266+2626C>A n.363-6481G>T n.227-6481G>T | gnomAD v4 |
17 | g.47310264C>A | CA2576302392 | EFCAB13-DT,ITGB3 | c.*60C>A (n.*60C>A) c.2266+2627C>A n.363-6482G>T n.227-6482G>T | gnomAD v4 |
17 | g.47310264C>T | CA2638437986 | EFCAB13-DT,ITGB3 | c.*60C>T (n.*60C>T) c.2266+2627C>T n.363-6482G>A n.227-6482G>A | gnomAD v4 |
17 | g.47310265A= | CA2262615988 | EFCAB13-DT,ITGB3 | c.*61A= (n.*61A=) c.2266+2628A= n.363-6483T= n.227-6483T= | |
17 | g.47310265A>G | CA291229242 | EFCAB13-DT,ITGB3 | c.*61A>G (n.*61A>G) c.2266+2628A>G n.363-6483T>C n.227-6483T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47310268A= | CA2262615989 | EFCAB13-DT,ITGB3 | c.*64A= (n.*64A=) c.2266+2631A= n.363-6486T= n.227-6486T= | |
17 | g.47310268A>G | CA2576302397 | EFCAB13-DT,ITGB3 | c.*64A>G (n.*64A>G) c.2266+2631A>G n.363-6486T>C n.227-6486T>C | |
17 | g.47310268A>T | CA772534220 | EFCAB13-DT,ITGB3 | c.*64A>T (n.*64A>T) c.2266+2631A>T n.363-6486T>A n.227-6486T>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47310270G>A | CA2262615991 | EFCAB13-DT,ITGB3 | c.*66G>A (n.*66G>A) c.2266+2633G>A n.363-6488C>T n.227-6488C>T | dbSNP |
17 | g.47310270G= | CA2262615990 | EFCAB13-DT,ITGB3 | c.*66G= (n.*66G=) c.2266+2633G= n.363-6488C= n.227-6488C= | |
17 | g.47310275C>A | CA2638437987 | EFCAB13-DT,ITGB3 | c.*71C>A (n.*71C>A) c.2266+2638C>A n.363-6493G>T n.227-6493G>T | gnomAD v4 |
17 | g.47310275C>T | CA2528349049 | EFCAB13-DT,ITGB3 | c.*71C>T (n.*71C>T) c.2266+2638C>T n.363-6493G>A n.227-6493G>A | gnomAD v4 |
17 | g.47310276A= | CA2262615992 | EFCAB13-DT,ITGB3 | c.*72A= (n.*72A=) c.2266+2639A= n.363-6494T= n.227-6494T= | |
17 | g.47310276A>G | CA984236318 | EFCAB13-DT,ITGB3 | c.*72A>G (n.*72A>G) c.2266+2639A>G n.363-6494T>C n.227-6494T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47310277G>A | CA2638437988 | EFCAB13-DT,ITGB3 | c.*73G>A (n.*73G>A) c.2266+2640G>A n.363-6495C>T n.227-6495C>T | gnomAD v4 |