Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47310110T>C | CA2638437948 | EFCAB13-DT,ITGB3 | c.2302-29T>C (n.2302-29T>C) c.2266+2473T>C n.363-6328A>G n.227-6328A>G | gnomAD v4 |
17 | g.47310111G>A | CA2528315539 | EFCAB13-DT,ITGB3 | c.2302-28G>A (n.2302-28G>A) c.2266+2474G>A n.363-6329C>T n.227-6329C>T | gnomAD v4 |
17 | g.47310112T>C | CA2576302367 | EFCAB13-DT,ITGB3 | c.2302-27T>C (n.2302-27T>C) c.2266+2475T>C n.363-6330A>G n.227-6330A>G | gnomAD v4 |
17 | g.47310113A= | CA2262615928 | EFCAB13-DT,ITGB3 | c.2302-26A= (n.2302-26A=) c.2266+2476A= n.363-6331T= n.227-6331T= | |
17 | g.47310113A>G | CA8623503 | EFCAB13-DT,ITGB3 | c.2302-26A>G (n.2302-26A>G) c.2266+2476A>G n.363-6331T>C n.227-6331T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310114A= | CA2262615929 | EFCAB13-DT,ITGB3 | c.2302-25A= (n.2302-25A=) c.2266+2477A= n.363-6332T= n.227-6332T= | |
17 | g.47310114A>C | CA772534053 | EFCAB13-DT,ITGB3 | c.2302-25A>C (n.2302-25A>C) c.2266+2477A>C n.363-6332T>G n.227-6332T>G | dbSNP gnomAD v4 |
17 | g.47310115G>C | CA8623504 | EFCAB13-DT,ITGB3 | c.2302-24G>C (n.2302-24G>C) c.2266+2478G>C n.363-6333C>G n.227-6333C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310115G= | CA2262615930 | EFCAB13-DT,ITGB3 | c.2302-24G= (n.2302-24G=) c.2266+2478G= n.363-6333C= n.227-6333C= | |
17 | g.47310116del | CA2576302368 | EFCAB13-DT,ITGB3 | c.2302-23del (n.2302-23del) c.2266+2479del n.363-6334del n.227-6334del | |
17 | g.47310117T>A | CA2638437949 | EFCAB13-DT,ITGB3 | c.2302-22T>A (n.2302-22T>A) c.2266+2480T>A n.363-6335A>T n.227-6335A>T | gnomAD v4 |
17 | g.47310118G>A | CA984236252 | EFCAB13-DT,ITGB3 | c.2302-21G>A (n.2302-21G>A) c.2266+2481G>A n.363-6336C>T n.227-6336C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47310118G= | CA2262615931 | EFCAB13-DT,ITGB3 | c.2302-21G= (n.2302-21G=) c.2266+2481G= n.363-6336C= n.227-6336C= | |
17 | g.47310119C>A | CA2638437950 | EFCAB13-DT,ITGB3 | c.2302-20C>A (n.2302-20C>A) c.2266+2482C>A n.363-6337G>T n.227-6337G>T | gnomAD v4 |
17 | g.47310119C= | CA2262615932 | EFCAB13-DT,ITGB3 | c.2302-20C= (n.2302-20C=) c.2266+2482C= n.363-6337G= n.227-6337G= | |
17 | g.47310119C>T | CA626383748 | EFCAB13-DT,ITGB3 | c.2302-20C>T (n.2302-20C>T) c.2266+2482C>T n.363-6337G>A n.227-6337G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47310124C>A | CA2576302369 | EFCAB13-DT,ITGB3 | c.2302-15C>A (n.2302-15C>A) c.2266+2487C>A n.363-6342G>T n.227-6342G>T | |
17 | g.47310124C>T | CA2638437951 | EFCAB13-DT,ITGB3 | c.2302-15C>T (n.2302-15C>T) c.2266+2487C>T n.363-6342G>A n.227-6342G>A | gnomAD v4 |
17 | g.47310129del | CA2576302370 | EFCAB13-DT,ITGB3 | c.2302-10del (n.2302-10del) c.2266+2492del n.363-6345del n.227-6345del | |
17 | g.47310130C>A | CA8623505 | EFCAB13-DT,ITGB3 | c.2302-9C>A (n.2302-9C>A) c.2266+2493C>A n.363-6348G>T n.227-6348G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310130C= | CA2262615933 | EFCAB13-DT,ITGB3 | c.2302-9C= (n.2302-9C=) c.2266+2493C= n.363-6348G= n.227-6348G= | |
17 | g.47310130C>G | CA2262615934 | EFCAB13-DT,ITGB3 | c.2302-9C>G (n.2302-9C>G) c.2266+2493C>G n.363-6348G>C n.227-6348G>C | dbSNP |
17 | g.47310131del | CA2697560388 | EFCAB13-DT,ITGB3 | c.2302-8del (n.2302-8del) c.2266+2494del n.363-6348del n.227-6348del | ClinVar |
17 | g.47310132T>C | CA772534056 | EFCAB13-DT,ITGB3 | c.2302-7T>C (n.2302-7T>C) c.2266+2495T>C n.363-6350A>G n.227-6350A>G | dbSNP |
17 | g.47310132T>G | CA2262615936 | EFCAB13-DT,ITGB3 | c.2302-7T>G (n.2302-7T>G) c.2266+2495T>G n.363-6350A>C n.227-6350A>C | dbSNP |
17 | g.47310132T= | CA2262615935 | EFCAB13-DT,ITGB3 | c.2302-7T= (n.2302-7T=) c.2266+2495T= n.363-6350A= n.227-6350A= | |
17 | g.47310135A>G | CA2638437952 | EFCAB13-DT,ITGB3 | c.2302-4A>G (n.2302-4A>G) c.2266+2498A>G n.363-6353T>C n.227-6353T>C | gnomAD v4 |
17 | g.47310136C>G | CA915940814 | EFCAB13-DT,ITGB3 | c.2302-3C>G (n.2302-3C>G) c.2266+2499C>G n.363-6354G>C n.227-6354G>C | |
17 | g.47310136C>T | CA2576302371 | EFCAB13-DT,ITGB3 | c.2302-3C>T (n.2302-3C>T) c.2266+2499C>T n.363-6354G>A n.227-6354G>A | gnomAD v4 |
17 | g.47310137A>C | CA400034621 | EFCAB13-DT,ITGB3 | c.2302-2A>C (n.2302-2A>C) c.2266+2500A>C n.363-6355T>G n.227-6355T>G | |
17 | g.47310137A>G | CA400034623 | EFCAB13-DT,ITGB3 | c.2302-2A>G (n.2302-2A>G) c.2266+2500A>G n.363-6355T>C n.227-6355T>C | |
17 | g.47310137A>T | CA400034625 | EFCAB13-DT,ITGB3 | c.2302-2A>T (n.2302-2A>T) c.2266+2500A>T n.363-6355T>A n.227-6355T>A | |
17 | g.47310138G>A | CA400034626 | EFCAB13-DT,ITGB3 | c.2302-1G>A (n.2302-1G>A) c.2266+2501G>A n.363-6356C>T n.227-6356C>T | ClinVar dbSNP |
17 | g.47310138G>C | CA400034628 | EFCAB13-DT,ITGB3 | c.2302-1G>C (n.2302-1G>C) c.2266+2501G>C n.363-6356C>G n.227-6356C>G | |
17 | g.47310138G>T | CA400034630 | EFCAB13-DT,ITGB3 | c.2302-1G>T (n.2302-1G>T) c.2266+2501G>T n.363-6356C>A n.227-6356C>A | gnomAD v4 |
17 | g.47310139G>A | CA400034636 | EFCAB13-DT,ITGB3 | c.2302G>A (p.Ala768Thr) c.2266+2502G>A n.363-6357C>T n.227-6357C>T | |
17 | g.47310139G>C | CA400034634 | EFCAB13-DT,ITGB3 | c.2302G>C (p.Ala768Pro) c.2266+2502G>C n.363-6357C>G n.227-6357C>G | |
17 | g.47310139G>T | CA400034632 | EFCAB13-DT,ITGB3 | c.2302G>T (p.Ala768Ser) c.2266+2502G>T n.363-6357C>A n.227-6357C>A | |
17 | g.47310140C>A | CA8623506 | EFCAB13-DT,ITGB3 | c.2303C>A (p.Ala768Asp) c.2266+2503C>A n.363-6358G>T n.227-6358G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310140C= | CA2262615937 | EFCAB13-DT,ITGB3 | c.2303C= (p.Ala768=) c.2266+2503C= n.363-6358G= n.227-6358G= | |
17 | g.47310140C>G | CA400034638 | EFCAB13-DT,ITGB3 | c.2303C>G (p.Ala768Gly) c.2266+2503C>G n.363-6358G>C n.227-6358G>C | |
17 | g.47310140C>T | CA400034640 | EFCAB13-DT,ITGB3 | c.2303C>T (p.Ala768Val) c.2266+2503C>T n.363-6358G>A n.227-6358G>A | gnomAD v4 |
17 | g.47310140_47310141insACCGTT | CA2524282882 | EFCAB13-DT,ITGB3 | c.2303_2304insACCGTT (p.Ala768_Asn769insProPhe) c.2266+2503_2266+2504insACCGTT n.363-6359_363-6358insAACGGT n.227-6359_227-6358insAACGGT | |
17 | g.47310141C>A | CA500439047 | EFCAB13-DT,ITGB3 | c.2304C>A (p.Ala768=) c.2266+2504C>A n.363-6359G>T n.227-6359G>T | |
17 | g.47310141C>G | CA500439046 | EFCAB13-DT,ITGB3 | c.2304C>G (p.Ala768=) c.2266+2504C>G n.363-6359G>C n.227-6359G>C | |
17 | g.47310141C>T | CA500439045 | EFCAB13-DT,ITGB3 | c.2304C>T (p.Ala768=) c.2266+2504C>T n.363-6359G>A n.227-6359G>A | |
17 | g.47310142A>C | CA400034642 | EFCAB13-DT,ITGB3 | c.2305A>C (p.Asn769His) c.2266+2505A>C n.363-6360T>G n.227-6360T>G | gnomAD v4 |
17 | g.47310142A>G | CA400034644 | EFCAB13-DT,ITGB3 | c.2305A>G (p.Asn769Asp) c.2266+2505A>G n.363-6360T>C n.227-6360T>C | |
17 | g.47310142A>T | CA400034646 | EFCAB13-DT,ITGB3 | c.2305A>T (p.Asn769Tyr) c.2266+2505A>T n.363-6360T>A n.227-6360T>A | |
17 | g.47310143A= | CA2262615938 | EFCAB13-DT,ITGB3 | c.2306A= (p.Asn769=) c.2266+2506A= n.363-6361T= n.227-6361T= | |
17 | g.47310143A>C | CA400034651 | EFCAB13-DT,ITGB3 | c.2306A>C (p.Asn769Thr) c.2266+2506A>C n.363-6361T>G n.227-6361T>G | |
17 | g.47310143A>G | CA8623507 | EFCAB13-DT,ITGB3 | c.2306A>G (p.Asn769Ser) c.2266+2506A>G n.363-6361T>C n.227-6361T>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.47310143A>T | CA400034649 | EFCAB13-DT,ITGB3 | c.2306A>T (p.Asn769Ile) c.2266+2506A>T n.363-6361T>A n.227-6361T>A | |
17 | g.47310144C>A | CA400034653 | EFCAB13-DT,ITGB3 | c.2307C>A (p.Asn769Lys) c.2266+2507C>A n.363-6362G>T n.227-6362G>T | |
17 | g.47310144C= | CA2262615939 | EFCAB13-DT,ITGB3 | c.2307C= (p.Asn769=) c.2266+2507C= n.363-6362G= n.227-6362G= | |
17 | g.47310144C>G | CA400034655 | EFCAB13-DT,ITGB3 | c.2307C>G (p.Asn769Lys) c.2266+2507C>G n.363-6362G>C n.227-6362G>C | dbSNP gnomAD v4 |
17 | g.47310144C>T | CA500439050 | EFCAB13-DT,ITGB3 | c.2307C>T (p.Asn769=) c.2266+2507C>T n.363-6362G>A n.227-6362G>A | dbSNP gnomAD v4 |
17 | g.47310145_47310148dup | CA2576302372 | EFCAB13-DT,ITGB3 | c.2308_2311dup (p.Pro771GlnfsTer5) c.2266+2508_2266+2511dup n.363-6365_363-6362dup n.227-6365_227-6362dup | |
17 | g.47310145A= | CA2262615940 | EFCAB13-DT,ITGB3 | c.2308A= (p.Asn770=) c.2266+2508A= n.363-6363T= n.227-6363T= | |
17 | g.47310145A>C | CA400034657 | EFCAB13-DT,ITGB3 | c.2308A>C (p.Asn770His) c.2266+2508A>C n.363-6363T>G n.227-6363T>G | dbSNP |
17 | g.47310145A>G | CA400034659 | EFCAB13-DT,ITGB3 | c.2308A>G (p.Asn770Asp) c.2266+2508A>G n.363-6363T>C n.227-6363T>C | |
17 | g.47310145A>T | CA400034661 | EFCAB13-DT,ITGB3 | c.2308A>T (p.Asn770Tyr) c.2266+2508A>T n.363-6363T>A n.227-6363T>A | |
17 | g.47310146A>C | CA400034663 | EFCAB13-DT,ITGB3 | c.2309A>C (p.Asn770Thr) c.2266+2509A>C n.363-6364T>G n.227-6364T>G | |
17 | g.47310146A>G | CA400034666 | EFCAB13-DT,ITGB3 | c.2309A>G (p.Asn770Ser) c.2266+2509A>G n.363-6364T>C n.227-6364T>C | COSMIC |
17 | g.47310146A>T | CA400034664 | EFCAB13-DT,ITGB3 | c.2309A>T (p.Asn770Ile) c.2266+2509A>T n.363-6364T>A n.227-6364T>A | |
17 | g.47310147C>A | CA400034668 | EFCAB13-DT,ITGB3 | c.2310C>A (p.Asn770Lys) c.2266+2510C>A n.363-6365G>T n.227-6365G>T | |
17 | g.47310147C= | CA2262615941 | EFCAB13-DT,ITGB3 | c.2310C= (p.Asn770=) c.2266+2510C= n.363-6365G= n.227-6365G= | |
17 | g.47310147C>G | CA400034670 | EFCAB13-DT,ITGB3 | c.2310C>G (p.Asn770Lys) c.2266+2510C>G n.363-6365G>C n.227-6365G>C | |
17 | g.47310147C>T | CA500439054 | EFCAB13-DT,ITGB3 | c.2310C>T (p.Asn770=) c.2266+2510C>T n.363-6365G>A n.227-6365G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.47310148C>A | CA400034671 | EFCAB13-DT,ITGB3 | c.2311C>A (p.Pro771Thr) c.2266+2511C>A n.363-6366G>T n.227-6366G>T | |
17 | g.47310148C= | CA2262615942 | EFCAB13-DT,ITGB3 | c.2311C= (p.Pro771=) c.2266+2511C= n.363-6366G= n.227-6366G= | |
17 | g.47310148C>G | CA400034673 | EFCAB13-DT,ITGB3 | c.2311C>G (p.Pro771Ala) c.2266+2511C>G n.363-6366G>C n.227-6366G>C | |
17 | g.47310148C>T | CA8623508 | EFCAB13-DT,ITGB3 | c.2311C>T (p.Pro771Ser) c.2266+2511C>T n.363-6366G>A n.227-6366G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310149C>A | CA400034677 | EFCAB13-DT,ITGB3 | c.2312C>A (p.Pro771Gln) c.2266+2512C>A n.363-6367G>T n.227-6367G>T | |
17 | g.47310149C>G | CA400034678 | EFCAB13-DT,ITGB3 | c.2312C>G (p.Pro771Arg) c.2266+2512C>G n.363-6367G>C n.227-6367G>C | |
17 | g.47310149C>T | CA400034679 | EFCAB13-DT,ITGB3 | c.2312C>T (p.Pro771Leu) c.2266+2512C>T n.363-6367G>A n.227-6367G>A | |
17 | g.47310150A= | CA2262615943 | EFCAB13-DT,ITGB3 | c.2313A= (p.Pro771=) c.2266+2513A= n.363-6368T= n.227-6368T= | |
17 | g.47310150A>C | CA500439057 | EFCAB13-DT,ITGB3 | c.2313A>C (p.Pro771=) c.2266+2513A>C n.363-6368T>G n.227-6368T>G | gnomAD v4 |
17 | g.47310150A>G | CA500439058 | EFCAB13-DT,ITGB3 | c.2313A>G (p.Pro771=) c.2266+2513A>G n.363-6368T>C n.227-6368T>C | gnomAD v4 |
17 | g.47310150A>T | CA8623509 | EFCAB13-DT,ITGB3 | c.2313A>T (p.Pro771=) c.2266+2513A>T n.363-6368T>A n.227-6368T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310151C>A | CA400034683 | EFCAB13-DT,ITGB3 | c.2314C>A (p.Leu772Met) c.2266+2514C>A n.363-6369G>T n.227-6369G>T | |
17 | g.47310151C>G | CA400034685 | EFCAB13-DT,ITGB3 | c.2314C>G (p.Leu772Val) c.2266+2514C>G n.363-6369G>C n.227-6369G>C | |
17 | g.47310151C>T | CA500439059 | EFCAB13-DT,ITGB3 | c.2314C>T (p.Leu772=) c.2266+2514C>T n.363-6369G>A n.227-6369G>A | |
17 | g.47310152T>A | CA400034689 | EFCAB13-DT,ITGB3 | c.2315T>A (p.Leu772Gln) c.2266+2515T>A n.363-6370A>T n.227-6370A>T | |
17 | g.47310152T>C | CA400034691 | EFCAB13-DT,ITGB3 | c.2315T>C (p.Leu772Pro) c.2266+2515T>C n.363-6370A>G n.227-6370A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310152T>G | CA400034687 | EFCAB13-DT,ITGB3 | c.2315T>G (p.Leu772Arg) c.2266+2515T>G n.363-6370A>C n.227-6370A>C | |
17 | g.47310152T= | CA2262615944 | EFCAB13-DT,ITGB3 | c.2315T= (p.Leu772=) c.2266+2515T= n.363-6370A= n.227-6370A= | |
17 | g.47310153G>A | CA500439061 | EFCAB13-DT,ITGB3 | c.2316G>A (p.Leu772=) c.2266+2516G>A n.363-6371C>T n.227-6371C>T | |
17 | g.47310153G>C | CA8623510 | EFCAB13-DT,ITGB3 | c.2316G>C (p.Leu772=) c.2266+2516G>C n.363-6371C>G n.227-6371C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310153G= | CA2262615945 | EFCAB13-DT,ITGB3 | c.2316G= (p.Leu772=) c.2266+2516G= n.363-6371C= n.227-6371C= | |
17 | g.47310153G>T | CA500439060 | EFCAB13-DT,ITGB3 | c.2316G>T (p.Leu772=) c.2266+2516G>T n.363-6371C>A n.227-6371C>A | |
17 | g.47310154T>A | CA400034695 | EFCAB13-DT,ITGB3 | c.2317T>A (p.Tyr773Asn) c.2266+2517T>A n.363-6372A>T n.227-6372A>T | |
17 | g.47310154T>C | CA400034698 | EFCAB13-DT,ITGB3 | c.2317T>C (p.Tyr773His) c.2266+2517T>C n.363-6372A>G n.227-6372A>G | COSMIC |
17 | g.47310154T>G | CA400034696 | EFCAB13-DT,ITGB3 | c.2317T>G (p.Tyr773Asp) c.2266+2517T>G n.363-6372A>C n.227-6372A>C | |
17 | g.47310155A= | CA2262615946 | EFCAB13-DT,ITGB3 | c.2318A= (p.Tyr773=) c.2266+2518A= n.363-6373T= n.227-6373T= | |
17 | g.47310155A>C | CA400034701 | EFCAB13-DT,ITGB3 | c.2318A>C (p.Tyr773Ser) c.2266+2518A>C n.363-6373T>G n.227-6373T>G | |
17 | g.47310155A>G | CA400034702 | EFCAB13-DT,ITGB3 | c.2318A>G (p.Tyr773Cys) c.2266+2518A>G n.363-6373T>C n.227-6373T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310155A>T | CA400034704 | EFCAB13-DT,ITGB3 | c.2318A>T (p.Tyr773Phe) c.2266+2518A>T n.363-6373T>A n.227-6373T>A | |
17 | g.47310156T>A | CA400034707 | EFCAB13-DT,ITGB3 | c.2319T>A (p.Tyr773Ter) c.2266+2519T>A n.363-6374A>T n.227-6374A>T | |
17 | g.47310156T>C | CA8623511 | EFCAB13-DT,ITGB3 | c.2319T>C (p.Tyr773=) c.2266+2519T>C n.363-6374A>G n.227-6374A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310156T>G | CA400034709 | EFCAB13-DT,ITGB3 | c.2319T>G (p.Tyr773Ter) c.2266+2519T>G n.363-6374A>C n.227-6374A>C | |
17 | g.47310156T= | CA2262615947 | EFCAB13-DT,ITGB3 | c.2319T= (p.Tyr773=) c.2266+2519T= n.363-6374A= n.227-6374A= | |
17 | g.47310157A>C | CA400034711 | EFCAB13-DT,ITGB3 | c.2320A>C (p.Lys774Gln) c.2266+2520A>C n.363-6375T>G n.227-6375T>G | |
17 | g.47310157A>G | CA400034713 | EFCAB13-DT,ITGB3 | c.2320A>G (p.Lys774Glu) c.2266+2520A>G n.363-6375T>C n.227-6375T>C | |
17 | g.47310157A>T | CA400034715 | EFCAB13-DT,ITGB3 | c.2320A>T (p.Lys774Ter) c.2266+2520A>T n.363-6375T>A n.227-6375T>A | |
17 | g.47310159dup | CA772534097 | EFCAB13-DT,ITGB3 | c.2322dup (p.Glu775ArgfsTer?) c.2266+2522dup n.363-6375dup n.227-6375dup | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47310158A>C | CA400034718 | EFCAB13-DT,ITGB3 | c.2321A>C (p.Lys774Thr) c.2266+2521A>C n.363-6376T>G n.227-6376T>G | |
17 | g.47310158A>G | CA400034720 | EFCAB13-DT,ITGB3 | c.2321A>G (p.Lys774Arg) c.2266+2521A>G n.363-6376T>C n.227-6376T>C | |
17 | g.47310158A>T | CA400034721 | EFCAB13-DT,ITGB3 | c.2321A>T (p.Lys774Ile) c.2266+2521A>T n.363-6376T>A n.227-6376T>A | |
17 | g.47310159A>C | CA400034725 | EFCAB13-DT,ITGB3 | c.2322A>C (p.Lys774Asn) c.2266+2522A>C n.363-6377T>G n.227-6377T>G | |
17 | g.47310159A>G | CA500439064 | EFCAB13-DT,ITGB3 | c.2322A>G (p.Lys774=) c.2266+2522A>G n.363-6377T>C n.227-6377T>C | ClinVar |
17 | g.47310159A>T | CA400034723 | EFCAB13-DT,ITGB3 | c.2322A>T (p.Lys774Asn) c.2266+2522A>T n.363-6377T>A n.227-6377T>A | |
17 | g.47310160G>A | CA400034727 | EFCAB13-DT,ITGB3 | c.2323G>A (p.Glu775Lys) c.2266+2523G>A n.363-6378C>T n.227-6378C>T | COSMIC |
17 | g.47310160G>C | CA400034729 | EFCAB13-DT,ITGB3 | c.2323G>C (p.Glu775Gln) c.2266+2523G>C n.363-6378C>G n.227-6378C>G | |
17 | g.47310160G>T | CA400034730 | EFCAB13-DT,ITGB3 | c.2323G>T (p.Glu775Ter) c.2266+2523G>T n.363-6378C>A n.227-6378C>A | |
17 | g.47310161A>C | CA400034731 | EFCAB13-DT,ITGB3 | c.2324A>C (p.Glu775Ala) c.2266+2524A>C n.363-6379T>G n.227-6379T>G | |
17 | g.47310161A>G | CA400034733 | EFCAB13-DT,ITGB3 | c.2324A>G (p.Glu775Gly) c.2266+2524A>G n.363-6379T>C n.227-6379T>C | |
17 | g.47310161A>T | CA400034734 | EFCAB13-DT,ITGB3 | c.2324A>T (p.Glu775Val) c.2266+2524A>T n.363-6379T>A n.227-6379T>A | |
17 | g.47310162G>A | CA8623512 | EFCAB13-DT,ITGB3 | c.2325G>A (p.Glu775=) c.2266+2525G>A n.363-6380C>T n.227-6380C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310162G>C | CA400034737 | EFCAB13-DT,ITGB3 | c.2325G>C (p.Glu775Asp) c.2266+2525G>C n.363-6380C>G n.227-6380C>G | gnomAD v4 |
17 | g.47310162G= | CA2262615948 | EFCAB13-DT,ITGB3 | c.2325G= (p.Glu775=) c.2266+2525G= n.363-6380C= n.227-6380C= | |
17 | g.47310162G>T | CA400034739 | EFCAB13-DT,ITGB3 | c.2325G>T (p.Glu775Asp) c.2266+2525G>T n.363-6380C>A n.227-6380C>A | |
17 | g.47310163G>A | CA8623513 | EFCAB13-DT,ITGB3 | c.2326G>A (p.Ala776Thr) c.2266+2526G>A n.363-6381C>T n.227-6381C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310163G>C | CA400034743 | EFCAB13-DT,ITGB3 | c.2326G>C (p.Ala776Pro) c.2266+2526G>C n.363-6381C>G n.227-6381C>G | |
17 | g.47310163G= | CA2262615949 | EFCAB13-DT,ITGB3 | c.2326G= (p.Ala776=) c.2266+2526G= n.363-6381C= n.227-6381C= | |
17 | g.47310163G>T | CA8623514 | EFCAB13-DT,ITGB3 | c.2326G>T (p.Ala776Ser) c.2266+2526G>T n.363-6381C>A n.227-6381C>A | dbSNP ExAC gnomAD v2 |
17 | g.47310164C>A | CA8623515 | EFCAB13-DT,ITGB3 | c.2327C>A (p.Ala776Asp) c.2266+2527C>A n.363-6382G>T n.227-6382G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47310164C= | CA2262615950 | EFCAB13-DT,ITGB3 | c.2327C= (p.Ala776=) c.2266+2527C= n.363-6382G= n.227-6382G= | |
17 | g.47310164C>G | CA400034747 | EFCAB13-DT,ITGB3 | c.2327C>G (p.Ala776Gly) c.2266+2527C>G n.363-6382G>C n.227-6382G>C | |
17 | g.47310164C>T | CA291229226 | EFCAB13-DT,ITGB3 | c.2327C>T (p.Ala776Val) c.2266+2527C>T n.363-6382G>A n.227-6382G>A | dbSNP gnomAD v2 COSMIC |
17 | g.47310165C>A | CA500439070 | EFCAB13-DT,ITGB3 | c.2328C>A (p.Ala776=) c.2266+2528C>A n.363-6383G>T n.227-6383G>T | |
17 | g.47310165C= | CA2262615951 | EFCAB13-DT,ITGB3 | c.2328C= (p.Ala776=) c.2266+2528C= n.363-6383G= n.227-6383G= | |
17 | g.47310165C>G | CA500439069 | EFCAB13-DT,ITGB3 | c.2328C>G (p.Ala776=) c.2266+2528C>G n.363-6383G>C n.227-6383G>C | |
17 | g.47310165C>T | CA8623516 | EFCAB13-DT,ITGB3 | c.2328C>T (p.Ala776=) c.2266+2528C>T n.363-6383G>A n.227-6383G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310166A= | CA2262615952 | EFCAB13-DT,ITGB3 | c.2329A= (p.Thr777=) c.2266+2529A= n.363-6384T= n.227-6384T= | |
17 | g.47310166A>C | CA400034751 | EFCAB13-DT,ITGB3 | c.2329A>C (p.Thr777Pro) c.2266+2529A>C n.363-6384T>G n.227-6384T>G | |
17 | g.47310166A>G | CA400034753 | EFCAB13-DT,ITGB3 | c.2329A>G (p.Thr777Ala) c.2266+2529A>G n.363-6384T>C n.227-6384T>C | dbSNP |
17 | g.47310166A>T | CA400034755 | EFCAB13-DT,ITGB3 | c.2329A>T (p.Thr777Ser) c.2266+2529A>T n.363-6384T>A n.227-6384T>A | |
17 | g.47310167C>A | CA400034756 | EFCAB13-DT,ITGB3 | c.2330C>A (p.Thr777Lys) c.2266+2530C>A n.363-6385G>T n.227-6385G>T | |
17 | g.47310167C= | CA2262615953 | EFCAB13-DT,ITGB3 | c.2330C= (p.Thr777=) c.2266+2530C= n.363-6385G= n.227-6385G= | |
17 | g.47310167C>G | CA400034759 | EFCAB13-DT,ITGB3 | c.2330C>G (p.Thr777Arg) c.2266+2530C>G n.363-6385G>C n.227-6385G>C | |
17 | g.47310167C>T | CA8623517 | EFCAB13-DT,ITGB3 | c.2330C>T (p.Thr777Met) c.2266+2530C>T n.363-6385G>A n.227-6385G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47310168G>A | CA8623518 | EFCAB13-DT,ITGB3 | c.2331G>A (p.Thr777=) c.2266+2531G>A n.363-6386C>T n.227-6386C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.47310168G>C | CA500439073 | EFCAB13-DT,ITGB3 | c.2331G>C (p.Thr777=) c.2266+2531G>C n.363-6386C>G n.227-6386C>G | gnomAD v4 |
17 | g.47310168G= | CA2262615954 | EFCAB13-DT,ITGB3 | c.2331G= (p.Thr777=) c.2266+2531G= n.363-6386C= n.227-6386C= | |
17 | g.47310168G>T | CA500439074 | EFCAB13-DT,ITGB3 | c.2331G>T (p.Thr777=) c.2266+2531G>T n.363-6386C>A n.227-6386C>A | |
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 | ClinVar 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 | ClinVar 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 | |
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 |