Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47286414G>A | CA8623035 | ITGB3 | c.769G>A (p.Val257Ile) c.734G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47286414G>C | CA400023693 | ITGB3 | c.769G>C (p.Val257Leu) c.734G>C | |
17 | g.47286414G= | CA2262606031 | ITGB3 | c.769G= (p.Val257=) c.734G= | |
17 | g.47286414G>T | CA400023694 | ITGB3 | c.769G>T (p.Val257Phe) c.734G>T | |
17 | g.47286415T>A | CA400023695 | ITGB3 | c.770T>A (p.Val257Asp) c.735T>A | |
17 | g.47286415T>C | CA400023696 | ITGB3 | c.770T>C (p.Val257Ala) c.735T>C | |
17 | g.47286415T>G | CA400023697 | ITGB3 | c.770T>G (p.Val257Gly) c.735T>G | |
17 | g.47286416C>A | CA500432049 | ITGB3 | c.771C>A (p.Val257=) c.736C>A | gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47286416C>G | CA500432048 | ITGB3 | c.771C>G (p.Val257=) c.736C>G | |
17 | g.47286416C>T | CA500432050 | ITGB3 | c.771C>T (p.Val257=) c.736C>T | gnomAD v4 COSMIC |
17 | g.47286416_47286418delinsCTG | CA2262606032 | ITGB3 | c.771_773delinsCTG (p.Val257=) c.736_738delinsCTG | |
17 | g.47286417T>A | CA400023700 | ITGB3 | c.772T>A (p.Cys258Ser) c.737T>A | |
17 | g.47286417T>C | CA400023698 | ITGB3 | c.772T>C (p.Cys258Arg) c.737T>C | |
17 | g.47286417T>G | CA400023699 | ITGB3 | c.772T>G (p.Cys258Gly) c.737T>G | |
17 | g.47286419_47286420del | CA915940285 | ITGB3 | c.774_775del (p.Cys258Ter) c.739_740del | ClinVar dbSNP |
17 | g.47286418G>A | CA400023701 | ITGB3 | c.773G>A (p.Cys258Tyr) c.738G>A | gnomAD v4 |
17 | g.47286418G>C | CA400023702 | ITGB3 | c.773G>C (p.Cys258Ser) c.738G>C | ClinVar |
17 | g.47286418G>T | CA400023703 | ITGB3 | c.773G>T (p.Cys258Phe) c.738G>T | |
17 | g.47286419T>A | CA400023704 | ITGB3 | c.774T>A (p.Cys258Ter) c.739T>A | ClinVar dbSNP |
17 | g.47286419T>C | CA500432051 | ITGB3 | c.774T>C (p.Cys258=) c.739T>C | |
17 | g.47286419T>G | CA400023705 | ITGB3 | c.774T>G (p.Cys258Trp) c.739T>G | |
17 | g.47286420G>A | CA400023706 | ITGB3 | c.775G>A (p.Asp259Asn) c.740G>A | |
17 | g.47286420G>C | CA400023707 | ITGB3 | c.775G>C (p.Asp259His) c.740G>C | |
17 | g.47286420G>T | CA400023708 | ITGB3 | c.775G>T (p.Asp259Tyr) c.740G>T | |
17 | g.47286421A= | CA2262606033 | ITGB3 | c.776A= (p.Asp259=) c.741A= | |
17 | g.47286421A>C | CA400023709 | ITGB3 | c.776A>C (p.Asp259Ala) c.741A>C | |
17 | g.47286421A>G | CA400023710 | ITGB3 | c.776A>G (p.Asp259Gly) c.741A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286421A>T | CA400023711 | ITGB3 | c.776A>T (p.Asp259Val) c.741A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286422T>A | CA400023712 | ITGB3 | c.777T>A (p.Asp259Glu) c.742T>A | |
17 | g.47286422T>C | CA500432052 | ITGB3 | c.777T>C (p.Asp259=) c.742T>C | dbSNP |
17 | g.47286422T>G | CA400023713 | ITGB3 | c.777T>G (p.Asp259Glu) c.742T>G | |
17 | g.47286422T= | CA2262606034 | ITGB3 | c.777T= (p.Asp259=) c.742T= | |
17 | g.47286423G>A | CA8623036 | ITGB3 | c.777+1G>A (n.777+1G>A) c.742+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286423G>C | CA400023714 | ITGB3 | c.777+1G>C (n.777+1G>C) c.742+1G>C | |
17 | g.47286423G= | CA2262606035 | ITGB3 | c.777+1G= (n.777+1G=) c.742+1G= | |
17 | g.47286423G>T | CA400023715 | ITGB3 | c.777+1G>T (n.777+1G>T) c.742+1G>T | |
17 | g.47286424T>A | CA400023716 | ITGB3 | c.777+2T>A (n.777+2T>A) c.742+2T>A | |
17 | g.47286424T>C | CA400023717 | ITGB3 | c.777+2T>C (n.777+2T>C) c.742+2T>C | |
17 | g.47286424T>G | CA400023718 | ITGB3 | c.777+2T>G (n.777+2T>G) c.742+2T>G | ClinVar gnomAD v4 |
17 | g.47286425G>C | CA291224901 | ITGB3 | c.777+3G>C (n.777+3G>C) c.742+3G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286425G= | CA2262606036 | ITGB3 | c.777+3G= (n.777+3G=) c.742+3G= | |
17 | g.47286427G>A | CA2638435538 | ITGB3 | c.777+5G>A (n.777+5G>A) c.742+5G>A | gnomAD v4 |
17 | g.47286429T>C | CA984234764 | ITGB3 | c.777+7T>C (n.777+7T>C) c.742+7T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286429T= | CA2262606037 | ITGB3 | c.777+7T= (n.777+7T=) c.742+7T= | |
17 | g.47286434G>A | CA2638435539 | ITGB3 | c.777+12G>A (n.777+12G>A) c.742+12G>A | gnomAD v4 |
17 | g.47286434G= | CA2262606038 | ITGB3 | c.777+12G= (n.777+12G=) c.742+12G= | |
17 | g.47286434G>T | CA626684844 | ITGB3 | c.777+12G>T (n.777+12G>T) c.742+12G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286437C>T | CA2638435540 | ITGB3 | c.777+15C>T (n.777+15C>T) c.742+15C>T | gnomAD v4 |
17 | g.47286440G>A | CA2638435541 | ITGB3 | c.777+18G>A (n.777+18G>A) c.742+18G>A | gnomAD v4 |
17 | g.47286440G>C | CA2739268195 | ITGB3 | c.777+18G>C (n.777+18G>C) c.742+18G>C | ClinVar |
17 | g.47286440_47286451delinsGGAGTGCCAGGT | CA2262606039 | ITGB3 | c.777+18_777+29delinsGGAGTGCCAGGT (n.777+18_777+29delinsGGAGTGCCAGGT) c.742+18_742+29delinsGGAGTGCCAGGT | |
17 | g.47286442_47286452del | CA626684845 | ITGB3 | c.777+20_777+30del (n.777+20_777+30del) c.742+20_742+30del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286442A= | CA2262606040 | ITGB3 | c.777+20A= (n.777+20A=) c.742+20A= | |
17 | g.47286442A>G | CA626684846 | ITGB3 | c.777+20A>G (n.777+20A>G) c.742+20A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286443G= | CA2262606041 | ITGB3 | c.777+21G= (n.777+21G=) c.742+21G= | |
17 | g.47286443G>T | CA8623037 | ITGB3 | c.777+21G>T (n.777+21G>T) c.742+21G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286444T>C | CA8623038 | ITGB3 | c.777+22T>C (n.777+22T>C) c.742+22T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286444T>G | CA291224903 | ITGB3 | c.777+22T>G (n.777+22T>G) c.742+22T>G | dbSNP |
17 | g.47286444T= | CA2262606042 | ITGB3 | c.777+22T= (n.777+22T=) c.742+22T= | |
17 | g.47286445G>C | CA8623039 | ITGB3 | c.777+23G>C (n.777+23G>C) c.742+23G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286445G= | CA2262606043 | ITGB3 | c.777+23G= (n.777+23G=) c.742+23G= | |
17 | g.47286445G>T | CA2638435542 | ITGB3 | c.777+23G>T (n.777+23G>T) c.742+23G>T | gnomAD v4 |
17 | g.47286446C= | CA2262606044 | ITGB3 | c.777+24C= (n.777+24C=) c.742+24C= | |
17 | g.47286446C>T | CA8623040 | ITGB3 | c.777+24C>T (n.777+24C>T) c.742+24C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286447C= | CA2262606045 | ITGB3 | c.777+25C= (n.777+25C=) c.742+25C= | |
17 | g.47286447C>T | CA8623041 | ITGB3 | c.777+25C>T (n.777+25C>T) c.742+25C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286449G>A | CA8623042 | ITGB3 | c.777+27G>A (n.777+27G>A) c.742+27G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286449G= | CA2262606046 | ITGB3 | c.777+27G= (n.777+27G=) c.742+27G= | |
17 | g.47286450G>A | CA626684847 | ITGB3 | c.777+28G>A (n.777+28G>A) c.742+28G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286450G= | CA2262606047 | ITGB3 | c.777+28G= (n.777+28G=) c.742+28G= | |
17 | g.47286452G>A | CA2638435543 | ITGB3 | c.777+30G>A (n.777+30G>A) c.742+30G>A | gnomAD v4 |
17 | g.47286453T>G | CA8623043 | ITGB3 | c.777+31T>G (n.777+31T>G) c.742+31T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286453T= | CA2262606048 | ITGB3 | c.777+31T= (n.777+31T=) c.742+31T= | |
17 | g.47286454G>A | CA8623045 | ITGB3 | c.777+32G>A (n.777+32G>A) c.742+32G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286454G= | CA2262606049 | ITGB3 | c.777+32G= (n.777+32G=) c.742+32G= | |
17 | g.47286454G>T | CA8623044 | ITGB3 | c.777+32G>T (n.777+32G>T) c.742+32G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286456C>T | CA2638435544 | ITGB3 | c.777+34C>T (n.777+34C>T) c.742+34C>T | gnomAD v4 |
17 | g.47286459G>C | CA8623046 | ITGB3 | c.777+37G>C (n.777+37G>C) c.742+37G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286459G= | CA2262606050 | ITGB3 | c.777+37G= (n.777+37G=) c.742+37G= | |
17 | g.47286460C= | CA2262606051 | ITGB3 | c.777+38C= (n.777+38C=) c.742+38C= | |
17 | g.47286460C>G | CA2262606052 | ITGB3 | c.777+38C>G (n.777+38C>G) c.742+38C>G | dbSNP |
17 | g.47286461A= | CA2262606053 | ITGB3 | c.777+39A= (n.777+39A=) c.742+39A= | |
17 | g.47286461A>G | CA2262606054 | ITGB3 | c.777+39A>G (n.777+39A>G) c.742+39A>G | dbSNP gnomAD v4 |
17 | g.47286467C>A | CA2638435545 | ITGB3 | c.777+45C>A (n.777+45C>A) c.742+45C>A | gnomAD v4 |
17 | g.47286467C= | CA2262606055 | ITGB3 | c.777+45C= (n.777+45C=) c.742+45C= | |
17 | g.47286467C>G | CA291224907 | ITGB3 | c.777+45C>G (n.777+45C>G) c.742+45C>G | dbSNP |
17 | g.47286467_47286468delinsCA | CA2262606056 | ITGB3 | c.777+45_777+46delinsCA (n.777+45_777+46delinsCA) c.742+45_742+46delinsCA | |
17 | g.47286468A= | CA2262606057 | ITGB3 | c.777+46A= (n.777+46A=) c.742+46A= | |
17 | g.47286468A>C | CA626684848 | ITGB3 | c.777+46A>C (n.777+46A>C) c.742+46A>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47286471del | CA984234772 | ITGB3 | c.777+49del (n.777+49del) c.742+49del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286472T>C | CA2638435546 | ITGB3 | c.777+50T>C (n.777+50T>C) c.742+50T>C | gnomAD v4 |
17 | g.47286473G>A | CA8623047 | ITGB3 | c.777+51G>A (n.777+51G>A) c.742+51G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47286473G= | CA2262606058 | ITGB3 | c.777+51G= (n.777+51G=) c.742+51G= | |
17 | g.47286474G>A | CA2576302269 | ITGB3 | c.777+52G>A (n.777+52G>A) c.742+52G>A | gnomAD v4 |
17 | g.47286476A= | CA2262606059 | ITGB3 | c.777+54A= (n.777+54A=) c.742+54A= | |
17 | g.47286476A>G | CA772537295 | ITGB3 | c.777+54A>G (n.777+54A>G) c.742+54A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47286480G>A | CA626684849 | ITGB3 | c.777+58G>A (n.777+58G>A) c.742+58G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47286480G= | CA2262606060 | ITGB3 | c.777+58G= (n.777+58G=) c.742+58G= | |
17 | g.47286483G>A | CA291224909 | ITGB3 | c.777+61G>A (n.777+61G>A) c.742+61G>A | dbSNP |
17 | g.47286483G= | CA2262606062 | ITGB3 | c.777+61G= (n.777+61G=) c.742+61G= | |
17 | g.47286483G>T | CA2262606061 | ITGB3 | c.777+61G>T (n.777+61G>T) c.742+61G>T | dbSNP |
17 | g.47286484T>C | CA2576302270 | ITGB3 | c.777+62T>C (n.777+62T>C) c.742+62T>C | gnomAD v4 |
17 | g.47286485G>A | CA2638435547 | ITGB3 | c.777+63G>A (n.777+63G>A) c.742+63G>A | gnomAD v4 |
17 | g.47286487C>A | CA2638435548 | ITGB3 | c.777+65C>A (n.777+65C>A) c.742+65C>A | gnomAD v4 |
17 | g.47286487C= | CA2262606064 | ITGB3 | c.777+65C= (n.777+65C=) c.742+65C= | |
17 | g.47286487C>G | CA2262606063 | ITGB3 | c.777+65C>G (n.777+65C>G) c.742+65C>G | dbSNP gnomAD v4 |
17 | g.47286488T>C | CA2576302272 | ITGB3 | c.777+66T>C (n.777+66T>C) c.742+66T>C | gnomAD v4 |
17 | g.47286491A>G | CA2638435549 | ITGB3 | c.777+69A>G (n.777+69A>G) c.742+69A>G | gnomAD v4 |
17 | g.47286492C>A | CA2262606066 | ITGB3 | c.777+70C>A (n.777+70C>A) c.742+70C>A | dbSNP gnomAD v4 |
17 | g.47286492C= | CA2262606065 | ITGB3 | c.777+70C= (n.777+70C=) c.742+70C= | |
17 | g.47286495T>C | CA2262606068 | ITGB3 | c.777+73T>C (n.777+73T>C) c.742+73T>C | dbSNP |
17 | g.47286495T= | CA2262606067 | ITGB3 | c.777+73T= (n.777+73T=) c.742+73T= | |
17 | g.47286496G>A | CA2638435550 | ITGB3 | c.777+74G>A (n.777+74G>A) c.742+74G>A | gnomAD v4 |
17 | g.47286498G>C | CA2576302274 | ITGB3 | c.777+76G>C (n.777+76G>C) c.742+76G>C | gnomAD v4 |
17 | g.47286499G>T | CA2638435551 | ITGB3 | c.777+77G>T (n.777+77G>T) c.742+77G>T | gnomAD v4 |
17 | g.47286500A= | CA2262606069 | ITGB3 | c.777+78A= (n.777+78A=) c.742+78A= | |
17 | g.47286500A>G | CA2262606070 | ITGB3 | c.777+78A>G (n.777+78A>G) c.742+78A>G | dbSNP |
17 | g.47286502_47286505del | CA2809686310 | ITGB3 | c.777+80_777+83del (n.777+80_777+83del) c.742+80_742+83del | |
17 | g.47286504_47286505insGGGA | CA2809686311 | ITGB3 | c.777+82_777+83insGGGA (n.777+82_777+83insGGGA) c.742+82_742+83insGGGA | |
17 | g.47286507G>T | CA2638435552 | ITGB3 | c.777+85G>T (n.777+85G>T) c.742+85G>T | gnomAD v4 |
17 | g.47286508T>C | CA772537310 | ITGB3 | c.777+86T>C (n.777+86T>C) c.742+86T>C | dbSNP |
17 | g.47286508T= | CA2262606071 | ITGB3 | c.777+86T= (n.777+86T=) c.742+86T= | |
17 | g.47286509G>A | CA2576302275 | ITGB3 | c.777+87G>A (n.777+87G>A) c.742+87G>A | gnomAD v4 |
17 | g.47286510T>A | CA2576302276 | ITGB3 | c.777+88T>A (n.777+88T>A) c.742+88T>A | gnomAD v4 |
17 | g.47286514del | CA2638435553 | ITGB3 | c.777+92del (n.777+92del) c.742+92del | gnomAD v4 |
17 | g.47286512A>G | CA2638435554 | ITGB3 | c.777+90A>G (n.777+90A>G) c.742+90A>G | gnomAD v4 |
17 | g.47286514A>G | CA2638435555 | ITGB3 | c.777+92A>G (n.777+92A>G) c.742+92A>G | gnomAD v4 |