Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47283477_47283532dup | CA2638435215 | ITGB3 | c.289_344dup (p.Leu116ThrfsTer47) c.254_309dup | gnomAD v4 |
17 | g.47283480A= | CA2262604879 | ITGB3 | c.292A= (p.Lys98=) c.257A= | |
17 | g.47283480A>C | CA400020839 | ITGB3 | c.292A>C (p.Lys98Gln) c.257A>C | |
17 | g.47283480A>G | CA400020845 | ITGB3 | c.292A>G (p.Lys98Glu) c.257A>G | dbSNP |
17 | g.47283480A>T | CA400020842 | ITGB3 | c.292A>T (p.Lys98Ter) c.257A>T | |
17 | g.47283481A>C | CA400020848 | ITGB3 | c.293A>C (p.Lys98Thr) c.258A>C | |
17 | g.47283481A>G | CA400020854 | ITGB3 | c.293A>G (p.Lys98Arg) c.258A>G | |
17 | g.47283481A>T | CA400020851 | ITGB3 | c.293A>T (p.Lys98Met) c.258A>T | |
17 | g.47283482G>A | CA500429575 | ITGB3 | c.294G>A (p.Lys98=) c.259G>A | |
17 | g.47283482G>C | CA400020857 | ITGB3 | c.294G>C (p.Lys98Asn) c.259G>C | |
17 | g.47283482G>T | CA400020859 | ITGB3 | c.294G>T (p.Lys98Asn) c.259G>T | |
17 | g.47283483G>A | CA8622910 | ITGB3 | c.295G>A (p.Gly99Ser) c.260G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283483G>C | CA400020864 | ITGB3 | c.295G>C (p.Gly99Arg) c.260G>C | |
17 | g.47283483G= | CA2262604880 | ITGB3 | c.295G= (p.Gly99=) c.260G= | |
17 | g.47283483G>T | CA400020862 | ITGB3 | c.295G>T (p.Gly99Cys) c.260G>T | |
17 | g.47283484G>A | CA400020865 | ITGB3 | c.296G>A (p.Gly99Asp) c.261G>A | |
17 | g.47283484G>C | CA400020869 | ITGB3 | c.296G>C (p.Gly99Ala) c.261G>C | gnomAD v4 |
17 | g.47283484G>T | CA400020867 | ITGB3 | c.296G>T (p.Gly99Val) c.261G>T | |
17 | g.47283485C>A | CA500429577 | ITGB3 | c.297C>A (p.Gly99=) c.262C>A | |
17 | g.47283485C= | CA2262604881 | ITGB3 | c.297C= (p.Gly99=) c.262C= | |
17 | g.47283485C>G | CA500429576 | ITGB3 | c.297C>G (p.Gly99=) c.262C>G | |
17 | g.47283485C>T | CA500429578 | ITGB3 | c.297C>T (p.Gly99=) c.262C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283486T>A | CA400020871 | ITGB3 | c.298T>A (p.Ser100Thr) c.263T>A | |
17 | g.47283486T>C | CA400020872 | ITGB3 | c.298T>C (p.Ser100Pro) c.263T>C | gnomAD v4 |
17 | g.47283486T>G | CA400020875 | ITGB3 | c.298T>G (p.Ser100Ala) c.263T>G | |
17 | g.47283487C>A | CA400020877 | ITGB3 | c.299C>A (p.Ser100Tyr) c.264C>A | |
17 | g.47283487C>G | CA400020879 | ITGB3 | c.299C>G (p.Ser100Cys) c.264C>G | gnomAD v4 |
17 | g.47283487C>T | CA400020881 | ITGB3 | c.299C>T (p.Ser100Phe) c.264C>T | |
17 | g.47283487_47283488insAG | CA2638435216 | ITGB3 | c.299_300insAG (p.Gly101ValfsTer?) c.264_265insAG | gnomAD v4 |
17 | g.47283488T>A | CA500429579 | ITGB3 | c.300T>A (p.Ser100=) c.265T>A | |
17 | g.47283488T>C | CA500429580 | ITGB3 | c.300T>C (p.Ser100=) c.265T>C | |
17 | g.47283488T>G | CA500429581 | ITGB3 | c.300T>G (p.Ser100=) c.265T>G | |
17 | g.47283489G>A | CA400020882 | ITGB3 | c.301G>A (p.Gly101Arg) c.266G>A | |
17 | g.47283489G>C | CA400020884 | ITGB3 | c.301G>C (p.Gly101Arg) c.266G>C | |
17 | g.47283489G>T | CA400020886 | ITGB3 | c.301G>T (p.Gly101Ter) c.266G>T | |
17 | g.47283490G>A | CA400020889 | ITGB3 | c.302G>A (p.Gly101Glu) c.267G>A | |
17 | g.47283490G>C | CA400020891 | ITGB3 | c.302G>C (p.Gly101Ala) c.267G>C | |
17 | g.47283490G>T | CA400020893 | ITGB3 | c.302G>T (p.Gly101Val) c.267G>T | |
17 | g.47283491A= | CA2262604882 | ITGB3 | c.303A= (p.Gly101=) c.268A= | |
17 | g.47283491A>C | CA500429583 | ITGB3 | c.303A>C (p.Gly101=) c.268A>C | |
17 | g.47283491A>G | CA8622911 | ITGB3 | c.303A>G (p.Gly101=) c.268A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283491A>T | CA500429582 | ITGB3 | c.303A>T (p.Gly101=) c.268A>T | |
17 | g.47283492G>A | CA400020897 | ITGB3 | c.304G>A (p.Asp102Asn) c.269G>A | |
17 | g.47283492G>C | CA400020899 | ITGB3 | c.304G>C (p.Asp102His) c.269G>C | |
17 | g.47283492G= | CA2262604883 | ITGB3 | c.304G= (p.Asp102=) c.269G= | |
17 | g.47283492G>T | CA291224505 | ITGB3 | c.304G>T (p.Asp102Tyr) c.269G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283493A>C | CA400020901 | ITGB3 | c.305A>C (p.Asp102Ala) c.270A>C | |
17 | g.47283493A>G | CA400020903 | ITGB3 | c.305A>G (p.Asp102Gly) c.270A>G | |
17 | g.47283493A>T | CA400020905 | ITGB3 | c.305A>T (p.Asp102Val) c.270A>T | |
17 | g.47283494C>A | CA400020908 | ITGB3 | c.306C>A (p.Asp102Glu) c.271C>A | dbSNP |
17 | g.47283494C= | CA2262604884 | ITGB3 | c.306C= (p.Asp102=) c.271C= | |
17 | g.47283494C>G | CA400020909 | ITGB3 | c.306C>G (p.Asp102Glu) c.271C>G | dbSNP |
17 | g.47283494C>T | CA500429584 | ITGB3 | c.306C>T (p.Asp102=) c.271C>T | |
17 | g.47283495A>C | CA400020913 | ITGB3 | c.307A>C (p.Ser103Arg) c.272A>C | |
17 | g.47283495A>G | CA400020914 | ITGB3 | c.307A>G (p.Ser103Gly) c.272A>G | gnomAD v4 |
17 | g.47283495A>T | CA400020917 | ITGB3 | c.307A>T (p.Ser103Cys) c.272A>T | |
17 | g.47283496G>A | CA400020922 | ITGB3 | c.308G>A (p.Ser103Asn) c.273G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283496G>C | CA400020924 | ITGB3 | c.308G>C (p.Ser103Thr) c.273G>C | |
17 | g.47283496G= | CA2262604885 | ITGB3 | c.308G= (p.Ser103=) c.273G= | |
17 | g.47283496G>T | CA400020919 | ITGB3 | c.308G>T (p.Ser103Ile) c.273G>T | |
17 | g.47283497C>A | CA400020927 | ITGB3 | c.309C>A (p.Ser103Arg) c.274C>A | |
17 | g.47283497C>G | CA400020928 | ITGB3 | c.309C>G (p.Ser103Arg) c.274C>G | |
17 | g.47283497C>T | CA500429585 | ITGB3 | c.309C>T (p.Ser103=) c.274C>T | |
17 | g.47283498T>A | CA400020932 | ITGB3 | c.310T>A (p.Ser104Thr) c.275T>A | |
17 | g.47283498T>C | CA400020934 | ITGB3 | c.310T>C (p.Ser104Pro) c.275T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283498T>G | CA400020936 | ITGB3 | c.310T>G (p.Ser104Ala) c.275T>G | |
17 | g.47283498T= | CA2262604886 | ITGB3 | c.310T= (p.Ser104=) c.275T= | |
17 | g.47283499C>A | CA400020941 | ITGB3 | c.311C>A (p.Ser104Tyr) c.276C>A | |
17 | g.47283499C= | CA2262604887 | ITGB3 | c.311C= (p.Ser104=) c.276C= | |
17 | g.47283499C>G | CA400020945 | ITGB3 | c.311C>G (p.Ser104Cys) c.276C>G | |
17 | g.47283499C>T | CA400020950 | ITGB3 | c.311C>T (p.Ser104Phe) c.276C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283500C>A | CA500429586 | ITGB3 | c.312C>A (p.Ser104=) c.277C>A | |
17 | g.47283500C>G | CA500429588 | ITGB3 | c.312C>G (p.Ser104=) c.277C>G | |
17 | g.47283500C>T | CA500429587 | ITGB3 | c.312C>T (p.Ser104=) c.277C>T | |
17 | g.47283501C>A | CA400020954 | ITGB3 | c.313C>A (p.Gln105Lys) c.278C>A | |
17 | g.47283501C>G | CA400020957 | ITGB3 | c.313C>G (p.Gln105Glu) c.278C>G | |
17 | g.47283501C>T | CA400020960 | ITGB3 | c.313C>T (p.Gln105Ter) c.278C>T | |
17 | g.47283502A>C | CA400020966 | ITGB3 | c.314A>C (p.Gln105Pro) c.279A>C | |
17 | g.47283502A>G | CA400020969 | ITGB3 | c.314A>G (p.Gln105Arg) c.279A>G | |
17 | g.47283502A>T | CA400020972 | ITGB3 | c.314A>T (p.Gln105Leu) c.279A>T | |
17 | g.47283503G>A | CA500429589 | ITGB3 | c.315G>A (p.Gln105=) c.280G>A | |
17 | g.47283503G>C | CA400020976 | ITGB3 | c.315G>C (p.Gln105His) c.280G>C | |
17 | g.47283503G= | CA2262604888 | ITGB3 | c.315G= (p.Gln105=) c.280G= | |
17 | g.47283503G>T | CA8622912 | ITGB3 | c.315G>T (p.Gln105His) c.280G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283504G>A | CA400020981 | ITGB3 | c.316G>A (p.Val106Ile) c.281G>A | dbSNP gnomAD v4 |
17 | g.47283504G>C | CA400020984 | ITGB3 | c.316G>C (p.Val106Leu) c.281G>C | |
17 | g.47283504G= | CA2262604889 | ITGB3 | c.316G= (p.Val106=) c.281G= | |
17 | g.47283504G>T | CA400020987 | ITGB3 | c.316G>T (p.Val106Phe) c.281G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283505T>A | CA400020990 | ITGB3 | c.317T>A (p.Val106Asp) c.282T>A | |
17 | g.47283505T>C | CA400020993 | ITGB3 | c.317T>C (p.Val106Ala) c.282T>C | |
17 | g.47283505T>G | CA400020996 | ITGB3 | c.317T>G (p.Val106Gly) c.282T>G | |
17 | g.47283506C>A | CA500429592 | ITGB3 | c.318C>A (p.Val106=) c.283C>A | |
17 | g.47283506C>G | CA500429591 | ITGB3 | c.318C>G (p.Val106=) c.283C>G | |
17 | g.47283506C>T | CA500429590 | ITGB3 | c.318C>T (p.Val106=) c.283C>T | |
17 | g.47283507A>C | CA400020999 | ITGB3 | c.319A>C (p.Thr107Pro) c.284A>C | |
17 | g.47283507A>G | CA400021003 | ITGB3 | c.319A>G (p.Thr107Ala) c.284A>G | |
17 | g.47283507A>T | CA400021006 | ITGB3 | c.319A>T (p.Thr107Ser) c.284A>T | |
17 | g.47283508C>A | CA400021009 | ITGB3 | c.320C>A (p.Thr107Asn) c.285C>A | |
17 | g.47283508C>G | CA400021011 | ITGB3 | c.320C>G (p.Thr107Ser) c.285C>G | |
17 | g.47283508C>T | CA400021013 | ITGB3 | c.320C>T (p.Thr107Ile) c.285C>T | |
17 | g.47283509T>A | CA500429595 | ITGB3 | c.321T>A (p.Thr107=) c.286T>A | |
17 | g.47283509T>C | CA500429593 | ITGB3 | c.321T>C (p.Thr107=) c.286T>C | dbSNP |
17 | g.47283509T>G | CA500429594 | ITGB3 | c.321T>G (p.Thr107=) c.286T>G | |
17 | g.47283509T= | CA2262604890 | ITGB3 | c.321T= (p.Thr107=) c.286T= | |
17 | g.47283510C>A | CA400021025 | ITGB3 | c.322C>A (p.Gln108Lys) c.287C>A | |
17 | g.47283510C>G | CA400021021 | ITGB3 | c.322C>G (p.Gln108Glu) c.287C>G | |
17 | g.47283510C>T | CA400021017 | ITGB3 | c.322C>T (p.Gln108Ter) c.287C>T | |
17 | g.47283511A>C | CA400021028 | ITGB3 | c.323A>C (p.Gln108Pro) c.288A>C | |
17 | g.47283511A>G | CA400021035 | ITGB3 | c.323A>G (p.Gln108Arg) c.288A>G | COSMIC COSMIC COSMIC |
17 | g.47283511A>T | CA400021031 | ITGB3 | c.323A>T (p.Gln108Leu) c.288A>T | |
17 | g.47283512A>C | CA400021037 | ITGB3 | c.324A>C (p.Gln108His) c.289A>C | gnomAD v4 |
17 | g.47283512A>G | CA500429596 | ITGB3 | c.324A>G (p.Gln108=) c.289A>G | |
17 | g.47283512A>T | CA400021040 | ITGB3 | c.324A>T (p.Gln108His) c.289A>T | |
17 | g.47283512_47283513delinsAG | CA2262604891 | ITGB3 | c.324_325delinsAG (p.Gln108=) c.289_290delinsAG | |
17 | g.47283513del | CA913190317 | ITGB3 | c.325del (p.Val109SerfsTer?) c.290del | ClinVar dbSNP |
17 | g.47283513G>A | CA400021043 | ITGB3 | c.325G>A (p.Val109Ile) c.290G>A | gnomAD v4 |
17 | g.47283513G>C | CA400021047 | ITGB3 | c.325G>C (p.Val109Leu) c.290G>C | |
17 | g.47283513G>T | CA400021050 | ITGB3 | c.325G>T (p.Val109Phe) c.290G>T | |
17 | g.47283514T>A | CA400021054 | ITGB3 | c.326T>A (p.Val109Asp) c.291T>A | |
17 | g.47283514T>C | CA400021058 | ITGB3 | c.326T>C (p.Val109Ala) c.291T>C | |
17 | g.47283514T>G | CA400021061 | ITGB3 | c.326T>G (p.Val109Gly) c.291T>G | COSMIC |
17 | g.47283515C>A | CA500429597 | ITGB3 | c.327C>A (p.Val109=) c.292C>A | |
17 | g.47283515C>G | CA500429599 | ITGB3 | c.327C>G (p.Val109=) c.292C>G | |
17 | g.47283515C>T | CA500429598 | ITGB3 | c.327C>T (p.Val109=) c.292C>T | |
17 | g.47283518_47283524del | CA915940806 | ITGB3 | c.330_336del (p.Ser110ArgfsTer?) c.295_301del | ClinVar |
17 | g.47283516A>C | CA400021068 | ITGB3 | c.328A>C (p.Ser110Arg) c.293A>C | gnomAD v4 |
17 | g.47283516A>G | CA400021071 | ITGB3 | c.328A>G (p.Ser110Gly) c.293A>G | |
17 | g.47283516A>T | CA400021075 | ITGB3 | c.328A>T (p.Ser110Cys) c.293A>T | |
17 | g.47283517G>A | CA400021093 | ITGB3 | c.329G>A (p.Ser110Asn) c.294G>A | |
17 | g.47283517G>C | CA400021086 | ITGB3 | c.329G>C (p.Ser110Thr) c.294G>C | |
17 | g.47283517G>T | CA400021090 | ITGB3 | c.329G>T (p.Ser110Ile) c.294G>T | |
17 | g.47283518T>A | CA8622913 | ITGB3 | c.330T>A (p.Ser110Arg) c.295T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283518T>C | CA500429600 | ITGB3 | c.330T>C (p.Ser110=) c.295T>C | |
17 | g.47283518T>G | CA400021096 | ITGB3 | c.330T>G (p.Ser110Arg) c.295T>G | |
17 | g.47283518T= | CA2262604892 | ITGB3 | c.330T= (p.Ser110=) c.295T= | |
17 | g.47283519C>A | CA400021098 | ITGB3 | c.331C>A (p.Pro111Thr) c.296C>A | |
17 | g.47283519C>G | CA400021099 | ITGB3 | c.331C>G (p.Pro111Ala) c.296C>G | |
17 | g.47283519C>T | CA400021101 | ITGB3 | c.331C>T (p.Pro111Ser) c.296C>T | |
17 | g.47283520C>A | CA400021103 | ITGB3 | c.332C>A (p.Pro111His) c.297C>A | gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47283520C>G | CA400021105 | ITGB3 | c.332C>G (p.Pro111Arg) c.297C>G | |
17 | g.47283520C>T | CA400021109 | ITGB3 | c.332C>T (p.Pro111Leu) c.297C>T | |
17 | g.47283521C>A | CA500429602 | ITGB3 | c.333C>A (p.Pro111=) c.298C>A | |
17 | g.47283521C>G | CA500429601 | ITGB3 | c.333C>G (p.Pro111=) c.298C>G | gnomAD v4 |
17 | g.47283521C>T | CA500429603 | ITGB3 | c.333C>T (p.Pro111=) c.298C>T | |
17 | g.47283522C>A | CA400021116 | ITGB3 | c.334C>A (p.Gln112Lys) c.299C>A | |
17 | g.47283522C>G | CA400021118 | ITGB3 | c.334C>G (p.Gln112Glu) c.299C>G | |
17 | g.47283522C>T | CA400021122 | ITGB3 | c.334C>T (p.Gln112Ter) c.299C>T | |
17 | g.47283523A= | CA2262604893 | ITGB3 | c.335A= (p.Gln112=) c.300A= | |
17 | g.47283523A>C | CA400021128 | ITGB3 | c.335A>C (p.Gln112Pro) c.300A>C | |
17 | g.47283523A>G | CA8622914 | ITGB3 | c.335A>G (p.Gln112Arg) c.300A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283523A>T | CA400021124 | ITGB3 | c.335A>T (p.Gln112Leu) c.300A>T | |
17 | g.47283524G>A | CA500429604 | ITGB3 | c.336G>A (p.Gln112=) c.301G>A | |
17 | g.47283524G>C | CA400021134 | ITGB3 | c.336G>C (p.Gln112His) c.301G>C | |
17 | g.47283524G>T | CA400021137 | ITGB3 | c.336G>T (p.Gln112His) c.301G>T | |
17 | g.47283525A>C | CA500429605 | ITGB3 | c.337A>C (p.Arg113=) c.302A>C | |
17 | g.47283525A>G | CA400021141 | ITGB3 | c.337A>G (p.Arg113Gly) c.302A>G | |
17 | g.47283525A>T | CA400021143 | ITGB3 | c.337A>T (p.Arg113Trp) c.302A>T | |
17 | g.47283526G>A | CA400021153 | ITGB3 | c.338G>A (p.Arg113Lys) c.303G>A | dbSNP gnomAD v4 |
17 | g.47283526G>C | CA400021155 | ITGB3 | c.338G>C (p.Arg113Thr) c.303G>C | |
17 | g.47283526G= | CA2262604894 | ITGB3 | c.338G= (p.Arg113=) c.303G= | |
17 | g.47283526G>T | CA400021159 | ITGB3 | c.338G>T (p.Arg113Met) c.303G>T | |
17 | g.47283527G>A | CA500429606 | ITGB3 | c.339G>A (p.Arg113=) c.304G>A | |
17 | g.47283527G>C | CA400021165 | ITGB3 | c.339G>C (p.Arg113Ser) c.304G>C | |
17 | g.47283527G>T | CA400021168 | ITGB3 | c.339G>T (p.Arg113Ser) c.304G>T | gnomAD v4 |
17 | g.47283528A>C | CA400021174 | ITGB3 | c.340A>C (p.Ile114Leu) c.305A>C | |
17 | g.47283528A>G | CA400021177 | ITGB3 | c.340A>G (p.Ile114Val) c.305A>G | |
17 | g.47283528A>T | CA400021180 | ITGB3 | c.340A>T (p.Ile114Phe) c.305A>T | |
17 | g.47283529T>A | CA400021189 | ITGB3 | c.341T>A (p.Ile114Asn) c.306T>A | |
17 | g.47283529T>C | CA8622915 | ITGB3 | c.341T>C (p.Ile114Thr) c.306T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283529T>G | CA400021185 | ITGB3 | c.341T>G (p.Ile114Ser) c.306T>G | |
17 | g.47283529T= | CA2262604895 | ITGB3 | c.341T= (p.Ile114=) c.306T= | |
17 | g.47283530T>A | CA500429607 | ITGB3 | c.342T>A (p.Ile114=) c.307T>A | gnomAD v4 |
17 | g.47283530T>C | CA8622916 | ITGB3 | c.342T>C (p.Ile114=) c.307T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283530T>G | CA400021199 | ITGB3 | c.342T>G (p.Ile114Met) c.307T>G | dbSNP |
17 | g.47283530T= | CA2262604896 | ITGB3 | c.342T= (p.Ile114=) c.307T= | |
17 | g.47283531G>A | CA400021206 | ITGB3 | c.343G>A (p.Ala115Thr) c.308G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283531G>C | CA400021209 | ITGB3 | c.343G>C (p.Ala115Pro) c.308G>C | |
17 | g.47283531G= | CA2262604897 | ITGB3 | c.343G= (p.Ala115=) c.308G= | |
17 | g.47283531G>T | CA400021210 | ITGB3 | c.343G>T (p.Ala115Ser) c.308G>T | |
17 | g.47283532C>A | CA400021218 | ITGB3 | c.344C>A (p.Ala115Glu) c.309C>A | |
17 | g.47283532C>G | CA400021214 | ITGB3 | c.344C>G (p.Ala115Gly) c.309C>G | |
17 | g.47283532C>T | CA400021215 | ITGB3 | c.344C>T (p.Ala115Val) c.309C>T | gnomAD v4 |
17 | g.47283533A>C | CA500429609 | ITGB3 | c.345A>C (p.Ala115=) c.310A>C | |
17 | g.47283533A>G | CA500429608 | ITGB3 | c.345A>G (p.Ala115=) c.310A>G | |
17 | g.47283533A>T | CA500429610 | ITGB3 | c.345A>T (p.Ala115=) c.310A>T | |
17 | g.47283534C>A | CA400021223 | ITGB3 | c.346C>A (p.Leu116Ile) c.311C>A | |
17 | g.47283534C= | CA2262604898 | ITGB3 | c.346C= (p.Leu116=) c.311C= | |
17 | g.47283534C>G | CA8622918 | ITGB3 | c.346C>G (p.Leu116Val) c.311C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283534C>T | CA8622917 | ITGB3 | c.346C>T (p.Leu116Phe) c.311C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283535T>A | CA400021233 | ITGB3 | c.347T>A (p.Leu116His) c.312T>A | |
17 | g.47283535T>C | CA400021235 | ITGB3 | c.347T>C (p.Leu116Pro) c.312T>C | |
17 | g.47283535T>G | CA400021239 | ITGB3 | c.347T>G (p.Leu116Arg) c.312T>G | |
17 | g.47283536C>A | CA8622919 | ITGB3 | c.348C>A (p.Leu116=) c.313C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283536C= | CA2262604899 | ITGB3 | c.348C= (p.Leu116=) c.313C= | |
17 | g.47283536C>G | CA500429611 | ITGB3 | c.348C>G (p.Leu116=) c.313C>G | |
17 | g.47283536C>T | CA8622920 | ITGB3 | c.348C>T (p.Leu116=) c.313C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47283537C>A | CA500429612 | ITGB3 | c.349C>A (p.Arg117=) c.314C>A | ClinVar |
17 | g.47283537C= | CA2262604900 | ITGB3 | c.349C= (p.Arg117=) c.314C= | |
17 | g.47283537C>G | CA400021247 | ITGB3 | c.349C>G (p.Arg117Gly) c.314C>G | |
17 | g.47283537C>T | CA8622921 | ITGB3 | c.349C>T (p.Arg117Trp) c.314C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47283538G>A | CA8622922 | ITGB3 | c.350G>A (p.Arg117Gln) c.315G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47283538G>C | CA400021258 | ITGB3 | c.350G>C (p.Arg117Pro) c.315G>C | |
17 | g.47283538G= | CA2262604901 | ITGB3 | c.350G= (p.Arg117=) c.315G= | |
17 | g.47283538G>T | CA400021256 | ITGB3 | c.350G>T (p.Arg117Leu) c.315G>T | |
17 | g.47283539G>A | CA500429613 | ITGB3 | c.351G>A (p.Arg117=) c.316G>A | |
17 | g.47283539G>C | CA500429614 | ITGB3 | c.351G>C (p.Arg117=) c.316G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283539G= | CA2262604902 | ITGB3 | c.351G= (p.Arg117=) c.316G= | |
17 | g.47283539G>T | CA500429615 | ITGB3 | c.351G>T (p.Arg117=) c.316G>T | |
17 | g.47283540C>A | CA400021259 | ITGB3 | c.352C>A (p.Leu118Ile) c.317C>A | |
17 | g.47283540C>G | CA400021260 | ITGB3 | c.352C>G (p.Leu118Val) c.317C>G | |
17 | g.47283540C>T | CA400021262 | ITGB3 | c.352C>T (p.Leu118Phe) c.317C>T | gnomAD v4 |
17 | g.47283541T>A | CA291224511 | ITGB3 | c.353T>A (p.Leu118His) c.318T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283541T>C | CA400021267 | ITGB3 | c.353T>C (p.Leu118Pro) c.318T>C | |
17 | g.47283541T>G | CA400021270 | ITGB3 | c.353T>G (p.Leu118Arg) c.318T>G | |
17 | g.47283541T= | CA2262604903 | ITGB3 | c.353T= (p.Leu118=) c.318T= | |
17 | g.47283542C>A | CA500429618 | ITGB3 | c.354C>A (p.Leu118=) c.319C>A | |
17 | g.47283542C= | CA2262604904 | ITGB3 | c.354C= (p.Leu118=) c.319C= | |
17 | g.47283542C>G | CA8622923 | ITGB3 | c.354C>G (p.Leu118=) c.319C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283542C>T | CA291224513 | ITGB3 | c.354C>T (p.Leu118=) c.319C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283543C>A | CA500429619 | ITGB3 | c.355C>A (p.Arg119=) c.320C>A | |
17 | g.47283543C= | CA2262604905 | ITGB3 | c.355C= (p.Arg119=) c.320C= | |
17 | g.47283543C>G | CA400021275 | ITGB3 | c.355C>G (p.Arg119Gly) c.320C>G | |
17 | g.47283543C>T | CA8622924 | ITGB3 | c.355C>T (p.Arg119Trp) c.320C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.47283544G>A | CA8622925 | ITGB3 | c.356G>A (p.Arg119Gln) c.321G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283544G>C | CA400021284 | ITGB3 | c.356G>C (p.Arg119Pro) c.321G>C | gnomAD v4 |
17 | g.47283544G= | CA2262604906 | ITGB3 | c.356G= (p.Arg119=) c.321G= | |
17 | g.47283544G>T | CA400021289 | ITGB3 | c.356G>T (p.Arg119Leu) c.321G>T | |
17 | g.47283545G>A | CA500429622 | ITGB3 | c.357G>A (p.Arg119=) c.322G>A | |
17 | g.47283545G>C | CA500429623 | ITGB3 | c.357G>C (p.Arg119=) c.322G>C | |
17 | g.47283545G>T | CA500429624 | ITGB3 | c.357G>T (p.Arg119=) c.322G>T | |
17 | g.47283546C>A | CA400021292 | ITGB3 | c.358C>A (p.Pro120Thr) c.323C>A | |
17 | g.47283546C>G | CA400021298 | ITGB3 | c.358C>G (p.Pro120Ala) c.323C>G | |
17 | g.47283546C>T | CA400021295 | ITGB3 | c.358C>T (p.Pro120Ser) c.323C>T | gnomAD v4 |
17 | g.47283547C>A | CA400021304 | ITGB3 | c.359C>A (p.Pro120Gln) c.324C>A | |
17 | g.47283547C>G | CA400021307 | ITGB3 | c.359C>G (p.Pro120Arg) c.324C>G | gnomAD v4 |
17 | g.47283547C>T | CA400021310 | ITGB3 | c.359C>T (p.Pro120Leu) c.324C>T | gnomAD v4 |
17 | g.47283548A= | CA2262604907 | ITGB3 | c.360A= (p.Pro120=) c.325A= | |
17 | g.47283548A>C | CA500430189 | ITGB3 | c.360A>C (p.Pro120=) c.325A>C | |
17 | g.47283548A>G | CA8622926 | ITGB3 | c.360A>G (p.Pro120=) c.325A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283548A>T | CA500430190 | ITGB3 | c.360A>T (p.Pro120=) c.325A>T | |
17 | g.47283549G>A | CA400021316 | ITGB3 | c.361G>A (p.Asp121Asn) c.326G>A | |
17 | g.47283549G>C | CA400021320 | ITGB3 | c.361G>C (p.Asp121His) c.326G>C | |
17 | g.47283549G>T | CA400021324 | ITGB3 | c.361G>T (p.Asp121Tyr) c.326G>T | |
17 | g.47283550G>A | CA400021329 | ITGB3 | c.361+1G>A (n.361+1G>A) c.326+1G>A | ClinVar dbSNP gnomAD v4 |
17 | g.47283550G>C | CA400021332 | ITGB3 | c.361+1G>C (n.361+1G>C) c.326+1G>C | |
17 | g.47283550G>T | CA400021336 | ITGB3 | c.361+1G>T (n.361+1G>T) c.326+1G>T | |
17 | g.47283551T>A | CA400021345 | ITGB3 | c.361+2T>A (n.361+2T>A) c.326+2T>A | |
17 | g.47283551T>C | CA400021349 | ITGB3 | c.361+2T>C (n.361+2T>C) c.326+2T>C | |
17 | g.47283551T>G | CA400021342 | ITGB3 | c.361+2T>G (n.361+2T>G) c.326+2T>G | |
17 | g.47283553G>A | CA8622927 | ITGB3 | c.361+4G>A (n.361+4G>A) c.326+4G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283553G= | CA2262604908 | ITGB3 | c.361+4G= (n.361+4G=) c.326+4G= | |
17 | g.47283555G>A | CA2262604910 | ITGB3 | c.361+6G>A (n.361+6G>A) c.326+6G>A | dbSNP |
17 | g.47283555G= | CA2262604909 | ITGB3 | c.361+6G= (n.361+6G=) c.326+6G= | |
17 | g.47283555G>T | CA626378165 | ITGB3 | c.361+6G>T (n.361+6G>T) c.326+6G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283557T>A | CA772535590 | ITGB3 | c.361+8T>A (n.361+8T>A) c.326+8T>A | dbSNP |
17 | g.47283557T= | CA2262604911 | ITGB3 | c.361+8T= (n.361+8T=) c.326+8T= | |
17 | g.47283560dup | CA2638435217 | ITGB3 | c.361+11dup (n.361+11dup) c.326+11dup | ClinVar gnomAD v4 |
17 | g.47283559G>C | CA8622928 | ITGB3 | c.361+10G>C (n.361+10G>C) c.326+10G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283559G= | CA2262604912 | ITGB3 | c.361+10G= (n.361+10G=) c.326+10G= | |
17 | g.47283561A>C | CA2697560132 | ITGB3 | c.361+12A>C (n.361+12A>C) c.326+12A>C | ClinVar |
17 | g.47283561A>G | CA2638435218 | ITGB3 | c.361+12A>G (n.361+12A>G) c.326+12A>G | gnomAD v4 |
17 | g.47283562C>T | CA2576302208 | ITGB3 | c.361+13C>T (n.361+13C>T) c.326+13C>T | |
17 | g.47283563T>C | CA2638435219 | ITGB3 | c.361+14T>C (n.361+14T>C) c.326+14T>C | gnomAD v4 |
17 | g.47283564C= | CA2262604914 | ITGB3 | c.361+15C= (n.361+15C=) c.326+15C= | |
17 | g.47283564C>G | CA626378166 | ITGB3 | c.361+15C>G (n.361+15C>G) c.326+15C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283564C>T | CA8622930 | ITGB3 | c.361+15C>T (n.361+15C>T) c.326+15C>T | dbSNP ExAC gnomAD v2 |
17 | g.47283564_47283566delinsCTT | CA2262604913 | ITGB3 | c.361+15_361+17delinsCTT (n.361+15_361+17delinsCTT) c.326+15_326+17delinsCTT | |
17 | g.47283566_47283567del | CA8622929 | ITGB3 | c.361+17_361+18del (n.361+17_361+18del) c.326+17_326+18del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283569C>A | CA8622933 | ITGB3 | c.361+20C>A (n.361+20C>A) c.326+20C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283569C= | CA2262604915 | ITGB3 | c.361+20C= (n.361+20C=) c.326+20C= | |
17 | g.47283569C>G | CA2697560133 | ITGB3 | c.361+20C>G (n.361+20C>G) c.326+20C>G | ClinVar |
17 | g.47283569C>T | CA8622932 | ITGB3 | c.361+20C>T (n.361+20C>T) c.326+20C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283569_47283570delinsCG | CA2262604916 | ITGB3 | c.361+20_361+21delinsCG (n.361+20_361+21delinsCG) c.326+20_326+21delinsCG | |
17 | g.47283570G>A | CA8622934 | ITGB3 | c.361+21G>A (n.361+21G>A) c.326+21G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283570G>C | CA2638435220 | ITGB3 | c.361+21G>C (n.361+21G>C) c.326+21G>C | gnomAD v4 |
17 | g.47283570G= | CA2262604917 | ITGB3 | c.361+21G= (n.361+21G=) c.326+21G= | |
17 | g.47283573del | CA8622931 | ITGB3 | c.361+24del (n.361+24del) c.326+24del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283572G>C | CA2262604918 | ITGB3 | c.361+23G>C (n.361+23G>C) c.326+23G>C | dbSNP |
17 | g.47283572G= | CA2262604919 | ITGB3 | c.361+23G= (n.361+23G=) c.326+23G= | |
17 | g.47283572G>T | CA772535600 | ITGB3 | c.361+23G>T (n.361+23G>T) c.326+23G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283573G>A | CA2262604921 | ITGB3 | c.361+24G>A (n.361+24G>A) c.326+24G>A | dbSNP gnomAD v4 |
17 | g.47283573G= | CA2262604920 | ITGB3 | c.361+24G= (n.361+24G=) c.326+24G= | |
17 | g.47283573G>T | CA656371663 | ITGB3 | c.361+24G>T (n.361+24G>T) c.326+24G>T | COSMIC |
17 | g.47283577_47283578del | CA2638435221 | ITGB3 | c.361+28_361+29del (n.361+28_361+29del) c.326+28_326+29del | gnomAD v4 |
17 | g.47283574A>G | CA2638435222 | ITGB3 | c.361+25A>G (n.361+25A>G) c.326+25A>G | gnomAD v4 |
17 | g.47283577G>A | CA291224520 | ITGB3 | c.361+28G>A (n.361+28G>A) c.326+28G>A | dbSNP gnomAD v4 |
17 | g.47283577G= | CA2262604922 | ITGB3 | c.361+28G= (n.361+28G=) c.326+28G= | |
17 | g.47283579C>A | CA2809686252 | ITGB3 | c.361+30C>A (n.361+30C>A) c.326+30C>A | |
17 | g.47283579C>G | CA2809686253 | ITGB3 | c.361+30C>G (n.361+30C>G) c.326+30C>G | |
17 | g.47283579C>T | CA2638435223 | ITGB3 | c.361+30C>T (n.361+30C>T) c.326+30C>T | gnomAD v4 |
17 | g.47283580C>G | CA2638435224 | ITGB3 | c.361+31C>G (n.361+31C>G) c.326+31C>G | gnomAD v4 |