Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47283450C>A | CA500429557 | ITGB3 | c.262C>A (p.Arg88=) c.227C>A | gnomAD v4 |
17 | g.47283450C= | CA2262604864 | ITGB3 | c.262C= (p.Arg88=) c.227C= | |
17 | g.47283450C>G | CA400020702 | ITGB3 | c.262C>G (p.Arg88Gly) c.227C>G | dbSNP |
17 | g.47283450C>T | CA400020703 | ITGB3 | c.262C>T (p.Arg88Ter) c.227C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283451G>A | CA8622904 | ITGB3 | c.263G>A (p.Arg88Gln) c.228G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283451G>C | CA400020706 | ITGB3 | c.263G>C (p.Arg88Pro) c.228G>C | gnomAD v4 |
17 | g.47283451G= | CA2262604865 | ITGB3 | c.263G= (p.Arg88=) c.228G= | |
17 | g.47283451G>T | CA400020707 | ITGB3 | c.263G>T (p.Arg88Leu) c.228G>T | gnomAD v4 |
17 | g.47283452A= | CA2262604866 | ITGB3 | c.264A= (p.Arg88=) c.229A= | |
17 | g.47283452A>C | CA291224499 | ITGB3 | c.264A>C (p.Arg88=) c.229A>C | ClinVar dbSNP gnomAD v4 |
17 | g.47283452A>G | CA500429558 | ITGB3 | c.264A>G (p.Arg88=) c.229A>G | |
17 | g.47283452A>T | CA500429559 | ITGB3 | c.264A>T (p.Arg88=) c.229A>T | |
17 | g.47283453G>A | CA400020709 | ITGB3 | c.265G>A (p.Val89Ile) c.230G>A | |
17 | g.47283453G>C | CA400020710 | ITGB3 | c.265G>C (p.Val89Leu) c.230G>C | |
17 | g.47283453G>T | CA400020708 | ITGB3 | c.265G>T (p.Val89Leu) c.230G>T | |
17 | g.47283454T>A | CA400020713 | ITGB3 | c.266T>A (p.Val89Glu) c.231T>A | |
17 | g.47283454T>C | CA400020711 | ITGB3 | c.266T>C (p.Val89Ala) c.231T>C | |
17 | g.47283454T>G | CA400020712 | ITGB3 | c.266T>G (p.Val89Gly) c.231T>G | |
17 | g.47283455A>C | CA500429562 | ITGB3 | c.267A>C (p.Val89=) c.232A>C | |
17 | g.47283455A>G | CA500429560 | ITGB3 | c.267A>G (p.Val89=) c.232A>G | |
17 | g.47283455A>T | CA500429561 | ITGB3 | c.267A>T (p.Val89=) c.232A>T | ClinVar gnomAD v4 |
17 | g.47283456C>A | CA400020714 | ITGB3 | c.268C>A (p.Leu90Ile) c.233C>A | |
17 | g.47283456C>G | CA400020715 | ITGB3 | c.268C>G (p.Leu90Val) c.233C>G | gnomAD v4 |
17 | g.47283456C>T | CA500429563 | ITGB3 | c.268C>T (p.Leu90=) c.233C>T | |
17 | g.47283457T>A | CA400020716 | ITGB3 | c.269T>A (p.Leu90Gln) c.234T>A | |
17 | g.47283457T>C | CA400020717 | ITGB3 | c.269T>C (p.Leu90Pro) c.234T>C | |
17 | g.47283457T>G | CA400020718 | ITGB3 | c.269T>G (p.Leu90Arg) c.234T>G | |
17 | g.47283458A= | CA2262604867 | ITGB3 | c.270A= (p.Leu90=) c.235A= | |
17 | g.47283458A>C | CA500429565 | ITGB3 | c.270A>C (p.Leu90=) c.235A>C | |
17 | g.47283458A>G | CA8622905 | ITGB3 | c.270A>G (p.Leu90=) c.235A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283458A>T | CA500429564 | ITGB3 | c.270A>T (p.Leu90=) c.235A>T | |
17 | g.47283459G>A | CA400020719 | ITGB3 | c.271G>A (p.Glu91Lys) c.236G>A | |
17 | g.47283459G>C | CA8622906 | ITGB3 | c.271G>C (p.Glu91Gln) c.236G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283459G= | CA2262604868 | ITGB3 | c.271G= (p.Glu91=) c.236G= | |
17 | g.47283459G>T | CA400020720 | ITGB3 | c.271G>T (p.Glu91Ter) c.236G>T | |
17 | g.47283460A>C | CA400020724 | ITGB3 | c.272A>C (p.Glu91Ala) c.237A>C | |
17 | g.47283460A>G | CA400020722 | ITGB3 | c.272A>G (p.Glu91Gly) c.237A>G | |
17 | g.47283460A>T | CA400020721 | ITGB3 | c.272A>T (p.Glu91Val) c.237A>T | |
17 | g.47283461G>A | CA8622907 | ITGB3 | c.273G>A (p.Glu91=) c.238G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283461G>C | CA400020727 | ITGB3 | c.273G>C (p.Glu91Asp) c.238G>C | dbSNP |
17 | g.47283461G= | CA2262604869 | ITGB3 | c.273G= (p.Glu91=) c.238G= | |
17 | g.47283461G>T | CA400020728 | ITGB3 | c.273G>T (p.Glu91Asp) c.238G>T | |
17 | g.47283462G>A | CA400020731 | ITGB3 | c.274G>A (p.Asp92Asn) c.239G>A | gnomAD v4 |
17 | g.47283462G>C | CA400020733 | ITGB3 | c.274G>C (p.Asp92His) c.239G>C | |
17 | g.47283462G>T | CA400020736 | ITGB3 | c.274G>T (p.Asp92Tyr) c.239G>T | |
17 | g.47283463A>C | CA400020739 | ITGB3 | c.275A>C (p.Asp92Ala) c.240A>C | |
17 | g.47283463A>G | CA400020741 | ITGB3 | c.275A>G (p.Asp92Gly) c.240A>G | |
17 | g.47283463A>T | CA400020743 | ITGB3 | c.275A>T (p.Asp92Val) c.240A>T | |
17 | g.47283464C>A | CA400020744 | ITGB3 | c.276C>A (p.Asp92Glu) c.241C>A | |
17 | g.47283464C= | CA2262604870 | ITGB3 | c.276C= (p.Asp92=) c.241C= | |
17 | g.47283464C>G | CA400020746 | ITGB3 | c.276C>G (p.Asp92Glu) c.241C>G | |
17 | g.47283464C>T | CA500429566 | ITGB3 | c.276C>T (p.Asp92=) c.241C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283465A>C | CA500429567 | ITGB3 | c.277A>C (p.Arg93=) c.242A>C | |
17 | g.47283465A>G | CA400020748 | ITGB3 | c.277A>G (p.Arg93Gly) c.242A>G | |
17 | g.47283465A>T | CA400020750 | ITGB3 | c.277A>T (p.Arg93Trp) c.242A>T | |
17 | g.47283466G>A | CA400020756 | ITGB3 | c.278G>A (p.Arg93Lys) c.243G>A | |
17 | g.47283466G>C | CA400020757 | ITGB3 | c.278G>C (p.Arg93Thr) c.243G>C | |
17 | g.47283466G>T | CA400020753 | ITGB3 | c.278G>T (p.Arg93Met) c.243G>T | |
17 | g.47283467G>A | CA500429568 | ITGB3 | c.279G>A (p.Arg93=) c.244G>A | |
17 | g.47283467G>C | CA400020760 | ITGB3 | c.279G>C (p.Arg93Ser) c.244G>C | |
17 | g.47283467G= | CA2262604871 | ITGB3 | c.279G= (p.Arg93=) c.244G= | |
17 | g.47283467G>T | CA400020762 | ITGB3 | c.279G>T (p.Arg93Ser) c.244G>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283468C>A | CA400020764 | ITGB3 | c.280C>A (p.Pro94Thr) c.245C>A | |
17 | g.47283468C>G | CA400020766 | ITGB3 | c.280C>G (p.Pro94Ala) c.245C>G | |
17 | g.47283468C>T | CA400020771 | ITGB3 | c.280C>T (p.Pro94Ser) c.245C>T | |
17 | g.47283471del | CA2638435214 | ITGB3 | c.283del (p.Leu95SerfsTer?) c.248del | gnomAD v4 |
17 | g.47283469C>A | CA400020775 | ITGB3 | c.281C>A (p.Pro94His) c.246C>A | |
17 | g.47283469C= | CA2262604872 | ITGB3 | c.281C= (p.Pro94=) c.246C= | |
17 | g.47283469C>G | CA400020777 | ITGB3 | c.281C>G (p.Pro94Arg) c.246C>G | gnomAD v4 |
17 | g.47283469C>T | CA400020779 | ITGB3 | c.281C>T (p.Pro94Leu) c.246C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283470C>A | CA500429571 | ITGB3 | c.282C>A (p.Pro94=) c.247C>A | |
17 | g.47283470C= | CA2262604873 | ITGB3 | c.282C= (p.Pro94=) c.247C= | |
17 | g.47283470C>G | CA500429569 | ITGB3 | c.282C>G (p.Pro94=) c.247C>G | gnomAD v4 |
17 | g.47283470C>T | CA500429570 | ITGB3 | c.282C>T (p.Pro94=) c.247C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283471C>A | CA400020783 | ITGB3 | c.283C>A (p.Leu95Ile) c.248C>A | |
17 | g.47283471C>G | CA400020784 | ITGB3 | c.283C>G (p.Leu95Val) c.248C>G | |
17 | g.47283471C>T | CA400020786 | ITGB3 | c.283C>T (p.Leu95Phe) c.248C>T | |
17 | g.47283472T>A | CA400020789 | ITGB3 | c.284T>A (p.Leu95His) c.249T>A | |
17 | g.47283472T>C | CA400020791 | ITGB3 | c.284T>C (p.Leu95Pro) c.249T>C | |
17 | g.47283472T>G | CA400020793 | ITGB3 | c.284T>G (p.Leu95Arg) c.249T>G | |
17 | g.47283473C>A | CA500429573 | ITGB3 | c.285C>A (p.Leu95=) c.250C>A | dbSNP |
17 | g.47283473C= | CA2262604874 | ITGB3 | c.285C= (p.Leu95=) c.250C= | |
17 | g.47283473C>G | CA500429572 | ITGB3 | c.285C>G (p.Leu95=) c.250C>G | |
17 | g.47283473C>T | CA8622908 | ITGB3 | c.285C>T (p.Leu95=) c.250C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283474A>C | CA400020798 | ITGB3 | c.286A>C (p.Ser96Arg) c.251A>C | |
17 | g.47283474A>G | CA400020800 | ITGB3 | c.286A>G (p.Ser96Gly) c.251A>G | |
17 | g.47283474A>T | CA400020803 | ITGB3 | c.286A>T (p.Ser96Cys) c.251A>T | |
17 | g.47283475G>A | CA400020806 | ITGB3 | c.287G>A (p.Ser96Asn) c.252G>A | |
17 | g.47283475G>C | CA400020808 | ITGB3 | c.287G>C (p.Ser96Thr) c.252G>C | |
17 | g.47283475G>T | CA400020810 | ITGB3 | c.287G>T (p.Ser96Ile) c.252G>T | |
17 | g.47283477_47283532dup | CA2638435215 | ITGB3 | c.289_344dup (p.Leu116ThrfsTer47) c.254_309dup | gnomAD v4 |
17 | g.47283476C>A | CA400020812 | ITGB3 | c.288C>A (p.Ser96Arg) c.253C>A | |
17 | g.47283476C= | CA2262604875 | ITGB3 | c.288C= (p.Ser96=) c.253C= | |
17 | g.47283476C>G | CA400020815 | ITGB3 | c.288C>G (p.Ser96Arg) c.253C>G | |
17 | g.47283476C>T | CA8622909 | ITGB3 | c.288C>T (p.Ser96=) c.253C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283477G>A | CA400020818 | ITGB3 | c.289G>A (p.Asp97Asn) c.254G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.47283477G>C | CA400020820 | ITGB3 | c.289G>C (p.Asp97His) c.254G>C | |
17 | g.47283477G= | CA2262604876 | ITGB3 | c.289G= (p.Asp97=) c.254G= | |
17 | g.47283477G>T | CA400020822 | ITGB3 | c.289G>T (p.Asp97Tyr) c.254G>T | |
17 | g.47283478A= | CA2262604877 | ITGB3 | c.290A= (p.Asp97=) c.255A= | |
17 | g.47283478A>C | CA400020826 | ITGB3 | c.290A>C (p.Asp97Ala) c.255A>C | |
17 | g.47283478A>G | CA400020827 | ITGB3 | c.290A>G (p.Asp97Gly) c.255A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283478A>T | CA400020829 | ITGB3 | c.290A>T (p.Asp97Val) c.255A>T | |
17 | g.47283479C>A | CA400020832 | ITGB3 | c.291C>A (p.Asp97Glu) c.256C>A | |
17 | g.47283479C= | CA2262604878 | ITGB3 | c.291C= (p.Asp97=) c.256C= | |
17 | g.47283479C>G | CA291224502 | ITGB3 | c.291C>G (p.Asp97Glu) c.256C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283479C>T | CA500429574 | ITGB3 | c.291C>T (p.Asp97=) c.256C>T | dbSNP |
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.47283543dup | CA2843078788 | ITGB3 | c.355dup (p.Arg119ProfsTer4) c.320dup | |
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 |