Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47283281del | CA2638435186 | ITGB3 | c.166-73del (n.166-73del) c.131-73del | gnomAD v4 |
17 | g.47283281G>A | CA2576302201 | ITGB3 | c.166-73G>A (n.166-73G>A) c.131-73G>A | |
17 | g.47283282T>C | CA2638435188 | ITGB3 | c.166-72T>C (n.166-72T>C) c.131-72T>C | gnomAD v4 |
17 | g.47283283A>G | CA2638435189 | ITGB3 | c.166-71A>G (n.166-71A>G) c.131-71A>G | gnomAD v4 |
17 | g.47283284G>A | CA2576302202 | ITGB3 | c.166-70G>A (n.166-70G>A) c.131-70G>A | |
17 | g.47283285G>A | CA626684820 | ITGB3 | c.166-69G>A (n.166-69G>A) c.131-69G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283285G= | CA2262604773 | ITGB3 | c.166-69G= (n.166-69G=) c.131-69G= | |
17 | g.47283286G= | CA2262604774 | ITGB3 | c.166-68G= (n.166-68G=) c.131-68G= | |
17 | g.47283286G>T | CA2741538249 | ITGB3 | c.166-68G>T (n.166-68G>T) c.131-68G>T | |
17 | g.47283287C>A | CA2638435190 | ITGB3 | c.166-67C>A (n.166-67C>A) c.131-67C>A | gnomAD v4 |
17 | g.47283287C>T | CA2638435191 | ITGB3 | c.166-67C>T (n.166-67C>T) c.131-67C>T | gnomAD v4 |
17 | g.47283291_47283292insCTACCTGC | CA2262604775 | ITGB3 | c.166-63_166-62insCTACCTGC (n.166-63_166-62insCTACCTGC) c.131-63_131-62insCTACCTGC | dbSNP gnomAD v4 |
17 | g.47283290G>A | CA2576302203 | ITGB3 | c.166-64G>A (n.166-64G>A) c.131-64G>A | gnomAD v4 |
17 | g.47283291C>A | CA2576302204 | ITGB3 | c.166-63C>A (n.166-63C>A) c.131-63C>A | gnomAD v4 |
17 | g.47283291C= | CA2262604776 | ITGB3 | c.166-63C= (n.166-63C=) c.131-63C= | |
17 | g.47283291C>T | CA291224470 | ITGB3 | c.166-63C>T (n.166-63C>T) c.131-63C>T | dbSNP |
17 | g.47283291_47283302delinsCAGGAGGTAGAG | CA2262604777 | ITGB3 | c.166-63_166-52delinsCAGGAGGTAGAG (n.166-63_166-52delinsCAGGAGGTAGAG) c.131-63_131-52delinsCAGGAGGTAGAG | |
17 | g.47283292A>G | CA2638435192 | ITGB3 | c.166-62A>G (n.166-62A>G) c.131-62A>G | gnomAD v4 |
17 | g.47283292A>T | CA2638435193 | ITGB3 | c.166-62A>T (n.166-62A>T) c.131-62A>T | gnomAD v4 |
17 | g.47283292_47283293delinsAG | CA2262604779 | ITGB3 | c.166-62_166-61delinsAG (n.166-62_166-61delinsAG) c.131-62_131-61delinsAG | |
17 | g.47283294_47283304del | CA2262604778 | ITGB3 | c.166-60_166-50del (n.166-60_166-50del) c.131-60_131-50del | dbSNP gnomAD v4 |
17 | g.47283293G>T | CA2576302205 | ITGB3 | c.166-61G>T (n.166-61G>T) c.131-61G>T | |
17 | g.47283294del | CA291224472 | ITGB3 | c.166-60del (n.166-60del) c.131-60del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283294G>A | CA2638435194 | ITGB3 | c.166-60G>A (n.166-60G>A) c.131-60G>A | gnomAD v4 |
17 | g.47283294G>T | CA2638435195 | ITGB3 | c.166-60G>T (n.166-60G>T) c.131-60G>T | gnomAD v4 |
17 | g.47283294_47283298delinsGAGGT | CA2262604780 | ITGB3 | c.166-60_166-56delinsGAGGT (n.166-60_166-56delinsGAGGT) c.131-60_131-56delinsGAGGT | |
17 | g.47283295A= | CA2262604781 | ITGB3 | c.166-59A= (n.166-59A=) c.131-59A= | |
17 | g.47283295A>T | CA772535224 | ITGB3 | c.166-59A>T (n.166-59A>T) c.131-59A>T | dbSNP gnomAD v4 |
17 | g.47283297_47283300del | CA772535225 | ITGB3 | c.166-57_166-54del (n.166-57_166-54del) c.131-57_131-54del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283296G>A | CA2638435197 | ITGB3 | c.166-58G>A (n.166-58G>A) c.131-58G>A | gnomAD v4 |
17 | g.47283296G>T | CA2638435196 | ITGB3 | c.166-58G>T (n.166-58G>T) c.131-58G>T | gnomAD v4 |
17 | g.47283297G>A | CA2638435198 | ITGB3 | c.166-57G>A (n.166-57G>A) c.131-57G>A | gnomAD v4 |
17 | g.47283298T>C | CA2262604783 | ITGB3 | c.166-56T>C (n.166-56T>C) c.131-56T>C | dbSNP gnomAD v4 |
17 | g.47283298T= | CA2262604782 | ITGB3 | c.166-56T= (n.166-56T=) c.131-56T= | |
17 | g.47283299A>C | CA2638435200 | ITGB3 | c.166-55A>C (n.166-55A>C) c.131-55A>C | gnomAD v4 |
17 | g.47283299A>G | CA2638435201 | ITGB3 | c.166-55A>G (n.166-55A>G) c.131-55A>G | gnomAD v4 |
17 | g.47283303_47283304del | CA2638435199 | ITGB3 | c.166-51_166-50del (n.166-51_166-50del) c.131-51_131-50del | gnomAD v4 |
17 | g.47283300G>A | CA772535226 | ITGB3 | c.166-54G>A (n.166-54G>A) c.131-54G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283300G= | CA2262604784 | ITGB3 | c.166-54G= (n.166-54G=) c.131-54G= | |
17 | g.47283300G>T | CA2638435202 | ITGB3 | c.166-54G>T (n.166-54G>T) c.131-54G>T | gnomAD v4 |
17 | g.47283301A= | CA2262604785 | ITGB3 | c.166-53A= (n.166-53A=) c.131-53A= | |
17 | g.47283301A>G | CA772535228 | ITGB3 | c.166-53A>G (n.166-53A>G) c.131-53A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283302G>A | CA2262604787 | ITGB3 | c.166-52G>A (n.166-52G>A) c.131-52G>A | dbSNP |
17 | g.47283302G= | CA2262604786 | ITGB3 | c.166-52G= (n.166-52G=) c.131-52G= | |
17 | g.47283303A= | CA2262604788 | ITGB3 | c.166-51A= (n.166-51A=) c.131-51A= | |
17 | g.47283303A>T | CA2262604789 | ITGB3 | c.166-51A>T (n.166-51A>T) c.131-51A>T | dbSNP |
17 | g.47283304del | CA2809686249 | ITGB3 | c.166-50del (n.166-50del) c.131-50del | |
17 | g.47283304G>A | CA2638435203 | ITGB3 | c.166-50G>A (n.166-50G>A) c.131-50G>A | gnomAD v4 |
17 | g.47283305T>C | CA626684821 | ITGB3 | c.166-49T>C (n.166-49T>C) c.131-49T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283305T>G | CA2638435204 | ITGB3 | c.166-49T>G (n.166-49T>G) c.131-49T>G | gnomAD v4 |
17 | g.47283305T= | CA2262604790 | ITGB3 | c.166-49T= (n.166-49T=) c.131-49T= | |
17 | g.47283306C>A | CA2576302206 | ITGB3 | c.166-48C>A (n.166-48C>A) c.131-48C>A | gnomAD v4 |
17 | g.47283306C= | CA2262604791 | ITGB3 | c.166-48C= (n.166-48C=) c.131-48C= | |
17 | g.47283306C>T | CA8622872 | ITGB3 | c.166-48C>T (n.166-48C>T) c.131-48C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283307G>A | CA8622873 | ITGB3 | c.166-47G>A (n.166-47G>A) c.131-47G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283307G= | CA2262604792 | ITGB3 | c.166-47G= (n.166-47G=) c.131-47G= | |
17 | g.47283307G>T | CA2638435205 | ITGB3 | c.166-47G>T (n.166-47G>T) c.131-47G>T | gnomAD v4 |
17 | g.47283308C= | CA2262604793 | ITGB3 | c.166-46C= (n.166-46C=) c.131-46C= | |
17 | g.47283308C>G | CA8622874 | ITGB3 | c.166-46C>G (n.166-46C>G) c.131-46C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283309C= | CA2262604794 | ITGB3 | c.166-45C= (n.166-45C=) c.131-45C= | |
17 | g.47283310A= | CA2262604795 | ITGB3 | c.166-44A= (n.166-44A=) c.131-44A= | |
17 | g.47283310A>G | CA772535239 | ITGB3 | c.166-44A>G (n.166-44A>G) c.131-44A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283311_47283312dup | CA8622875 | ITGB3 | c.166-43_166-42dup (n.166-43_166-42dup) c.131-43_131-42dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283311T>C | CA8622876 | ITGB3 | c.166-43T>C (n.166-43T>C) c.131-43T>C | dbSNP ExAC |
17 | g.47283311T= | CA2262604796 | ITGB3 | c.166-43T= (n.166-43T=) c.131-43T= | |
17 | g.47283313G= | CA2262604797 | ITGB3 | c.166-41G= (n.166-41G=) c.131-41G= | |
17 | g.47283313G>T | CA772535241 | ITGB3 | c.166-41G>T (n.166-41G>T) c.131-41G>T | dbSNP |
17 | g.47283314C>A | CA2581311752 | ITGB3 | c.166-40C>A (n.166-40C>A) c.131-40C>A | |
17 | g.47283314C= | CA2262604798 | ITGB3 | c.166-40C= (n.166-40C=) c.131-40C= | |
17 | g.47283314C>G | CA2262604799 | ITGB3 | c.166-40C>G (n.166-40C>G) c.131-40C>G | dbSNP gnomAD v4 |
17 | g.47283314C>T | CA8622877 | ITGB3 | c.166-40C>T (n.166-40C>T) c.131-40C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283316C>A | CA626684822 | ITGB3 | c.166-38C>A (n.166-38C>A) c.131-38C>A | dbSNP gnomAD v2 |
17 | g.47283316C= | CA2262604800 | ITGB3 | c.166-38C= (n.166-38C=) c.131-38C= | |
17 | g.47283316C>T | CA2638435206 | ITGB3 | c.166-38C>T (n.166-38C>T) c.131-38C>T | gnomAD v4 |
17 | g.47283317T>C | CA2843078781 | ITGB3 | c.166-37T>C (n.166-37T>C) c.131-37T>C | |
17 | g.47283318G>T | CA2843078782 | ITGB3 | c.166-36G>T (n.166-36G>T) c.131-36G>T | |
17 | g.47283319A>G | CA2576302207 | ITGB3 | c.166-35A>G (n.166-35A>G) c.131-35A>G | |
17 | g.47283320T>C | CA291224476 | ITGB3 | c.166-34T>C (n.166-34T>C) c.131-34T>C | dbSNP gnomAD v4 |
17 | g.47283320T= | CA2262604801 | ITGB3 | c.166-34T= (n.166-34T=) c.131-34T= | |
17 | g.47283322_47283323delinsGC | CA2262604802 | ITGB3 | c.166-32_166-31delinsGC (n.166-32_166-31delinsGC) c.131-32_131-31delinsGC | |
17 | g.47283323del | CA2262604803 | ITGB3 | c.166-31del (n.166-31del) c.131-31del | dbSNP gnomAD v4 |
17 | g.47283324T>C | CA2638435207 | ITGB3 | c.166-30T>C (n.166-30T>C) c.131-30T>C | gnomAD v4 |
17 | g.47283325G>A | CA2638435208 | ITGB3 | c.166-29G>A (n.166-29G>A) c.131-29G>A | gnomAD v4 |
17 | g.47283326G>A | CA2638435209 | ITGB3 | c.166-28G>A (n.166-28G>A) c.131-28G>A | gnomAD v4 |
17 | g.47283326G= | CA2262604804 | ITGB3 | c.166-28G= (n.166-28G=) c.131-28G= | |
17 | g.47283326G>T | CA8622878 | ITGB3 | c.166-28G>T (n.166-28G>T) c.131-28G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283327A= | CA2262604805 | ITGB3 | c.166-27A= (n.166-27A=) c.131-27A= | |
17 | g.47283327A>C | CA2262604806 | ITGB3 | c.166-27A>C (n.166-27A>C) c.131-27A>C | dbSNP |
17 | g.47283327A>T | CA2638435210 | ITGB3 | c.166-27A>T (n.166-27A>T) c.131-27A>T | gnomAD v4 |
17 | g.47283328C= | CA2262604807 | ITGB3 | c.166-26C= (n.166-26C=) c.131-26C= | |
17 | g.47283328C>T | CA8622879 | ITGB3 | c.166-26C>T (n.166-26C>T) c.131-26C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283330T>A | CA2638435211 | ITGB3 | c.166-24T>A (n.166-24T>A) c.131-24T>A | gnomAD v4 |
17 | g.47283331C= | CA2262604808 | ITGB3 | c.166-23C= (n.166-23C=) c.131-23C= | |
17 | g.47283331C>T | CA772535253 | ITGB3 | c.166-23C>T (n.166-23C>T) c.131-23C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283333C= | CA2262604809 | ITGB3 | c.166-21C= (n.166-21C=) c.131-21C= | |
17 | g.47283333C>T | CA2262604810 | ITGB3 | c.166-21C>T (n.166-21C>T) c.131-21C>T | dbSNP |
17 | g.47283336T>C | CA291224479 | ITGB3 | c.166-18T>C (n.166-18T>C) c.131-18T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283336T>G | CA2262604811 | ITGB3 | c.166-18T>G (n.166-18T>G) c.131-18T>G | dbSNP |
17 | g.47283336T= | CA2262604812 | ITGB3 | c.166-18T= (n.166-18T=) c.131-18T= | |
17 | g.47283337G>T | CA2843078783 | ITGB3 | c.166-17G>T (n.166-17G>T) c.131-17G>T | |
17 | g.47283338G>A | CA8622880 | ITGB3 | c.166-16G>A (n.166-16G>A) c.131-16G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283338G= | CA2262604813 | ITGB3 | c.166-16G= (n.166-16G=) c.131-16G= | |
17 | g.47283338G>T | CA2843078784 | ITGB3 | c.166-16G>T (n.166-16G>T) c.131-16G>T | |
17 | g.47283339G>T | CA2809686250 | ITGB3 | c.166-15G>T (n.166-15G>T) c.131-15G>T | |
17 | g.47283340C>A | CA8622881 | ITGB3 | c.166-14C>A (n.166-14C>A) c.131-14C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283340C= | CA2262604814 | ITGB3 | c.166-14C= (n.166-14C=) c.131-14C= | |
17 | g.47283341T>C | CA2739268187 | ITGB3 | c.166-13T>C (n.166-13T>C) c.131-13T>C | ClinVar |
17 | g.47283341T>G | CA2552546832 | ITGB3 | c.166-13T>G (n.166-13T>G) c.131-13T>G | ClinVar gnomAD v4 |
17 | g.47283342C>A | CA2843078785 | ITGB3 | c.166-12C>A (n.166-12C>A) c.131-12C>A | |
17 | g.47283342C= | CA2262604815 | ITGB3 | c.166-12C= (n.166-12C=) c.131-12C= | |
17 | g.47283342C>T | CA8622882 | ITGB3 | c.166-12C>T (n.166-12C>T) c.131-12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283343C= | CA2262604816 | ITGB3 | c.166-11C= (n.166-11C=) c.131-11C= | |
17 | g.47283343C>T | CA626684823 | ITGB3 | c.166-11C>T (n.166-11C>T) c.131-11C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283345_47283348del | CA2741538250 | ITGB3 | c.166-9_166-6del (n.166-9_166-6del) c.131-9_131-6del | |
17 | g.47283345_47283346del | CA2638435212 | ITGB3 | c.166-9_166-8del (n.166-9_166-8del) c.131-9_131-8del | gnomAD v4 |
17 | g.47283345G>T | CA2843078786 | ITGB3 | c.166-9G>T (n.166-9G>T) c.131-9G>T | |
17 | g.47283346T>C | CA626684824 | ITGB3 | c.166-8T>C (n.166-8T>C) c.131-8T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283346T= | CA2262604817 | ITGB3 | c.166-8T= (n.166-8T=) c.131-8T= | |
17 | g.47283347C>T | CA2739268188 | ITGB3 | c.166-7C>T (n.166-7C>T) c.131-7C>T | ClinVar |
17 | g.47283348T>A | CA2843078787 | ITGB3 | c.166-6T>A (n.166-6T>A) c.131-6T>A | |
17 | g.47283350A= | CA2262604818 | ITGB3 | c.166-4A= (n.166-4A=) c.131-4A= | |
17 | g.47283350A>T | CA291224482 | ITGB3 | c.166-4A>T (n.166-4A>T) c.131-4A>T | dbSNP gnomAD v4 |
17 | g.47283351C= | CA2262604819 | ITGB3 | c.166-3C= (n.166-3C=) c.131-3C= | |
17 | g.47283351C>T | CA8622883 | ITGB3 | c.166-3C>T (n.166-3C>T) c.131-3C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283352A= | CA2262604820 | ITGB3 | c.166-2A= (n.166-2A=) c.131-2A= | |
17 | g.47283352A>C | CA400020352 | ITGB3 | c.166-2A>C (n.166-2A>C) c.131-2A>C | |
17 | g.47283352A>G | CA291224483 | ITGB3 | c.166-2A>G (n.166-2A>G) c.131-2A>G | ClinVar dbSNP |
17 | g.47283352A>T | CA400020355 | ITGB3 | c.166-2A>T (n.166-2A>T) c.131-2A>T | |
17 | g.47283353G>A | CA400020357 | ITGB3 | c.166-1G>A (n.166-1G>A) c.131-1G>A | |
17 | g.47283353G>C | CA400020360 | ITGB3 | c.166-1G>C (n.166-1G>C) c.131-1G>C | gnomAD v4 |
17 | g.47283353G>T | CA400020361 | ITGB3 | c.166-1G>T (n.166-1G>T) c.131-1G>T | |
17 | g.47283354G>A | CA400020367 | ITGB3 | c.166G>A (p.Ala56Thr) c.131G>A | |
17 | g.47283354G>C | CA400020363 | ITGB3 | c.166G>C (p.Ala56Pro) c.131G>C | dbSNP gnomAD v4 |
17 | g.47283354G= | CA2262604821 | ITGB3 | c.166G= (p.Ala56=) c.131G= | |
17 | g.47283354G>T | CA400020365 | ITGB3 | c.166G>T (p.Ala56Ser) c.131G>T | |
17 | g.47283355C>A | CA8622884 | ITGB3 | c.167C>A (p.Ala56Asp) c.132C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283355C= | CA2262604822 | ITGB3 | c.167C= (p.Ala56=) c.132C= | |
17 | g.47283355C>G | CA400020369 | ITGB3 | c.167C>G (p.Ala56Gly) c.132C>G | |
17 | g.47283355C>T | CA400020371 | ITGB3 | c.167C>T (p.Ala56Val) c.132C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283356C>A | CA500429492 | ITGB3 | c.168C>A (p.Ala56=) c.133C>A | |
17 | g.47283356C= | CA2262604823 | ITGB3 | c.168C= (p.Ala56=) c.133C= | |
17 | g.47283356C>G | CA500429493 | ITGB3 | c.168C>G (p.Ala56=) c.133C>G | |
17 | g.47283356C>T | CA8622885 | ITGB3 | c.168C>T (p.Ala56=) c.133C>T | dbSNP ExAC |
17 | g.47283357C>A | CA400020374 | ITGB3 | c.169C>A (p.Leu57Met) c.134C>A | |
17 | g.47283357C= | CA2262604824 | ITGB3 | c.169C= (p.Leu57=) c.134C= | |
17 | g.47283357C>G | CA400020376 | ITGB3 | c.169C>G (p.Leu57Val) c.134C>G | |
17 | g.47283357C>T | CA8622886 | ITGB3 | c.169C>T (p.Leu57=) c.134C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283358T>A | CA400020379 | ITGB3 | c.170T>A (p.Leu57Gln) c.135T>A | |
17 | g.47283358T>C | CA400020381 | ITGB3 | c.170T>C (p.Leu57Pro) c.135T>C | |
17 | g.47283358T>G | CA400020383 | ITGB3 | c.170T>G (p.Leu57Arg) c.135T>G | |
17 | g.47283359G>A | CA8622887 | ITGB3 | c.171G>A (p.Leu57=) c.136G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283359G>C | CA500429494 | ITGB3 | c.171G>C (p.Leu57=) c.136G>C | |
17 | g.47283359G= | CA2262604825 | ITGB3 | c.171G= (p.Leu57=) c.136G= | |
17 | g.47283359G>T | CA500429495 | ITGB3 | c.171G>T (p.Leu57=) c.136G>T | |
17 | g.47283360C>A | CA400020390 | ITGB3 | c.172C>A (p.Pro58Thr) c.137C>A | |
17 | g.47283360C>G | CA400020388 | ITGB3 | c.172C>G (p.Pro58Ala) c.137C>G | |
17 | g.47283360C>T | CA400020387 | ITGB3 | c.172C>T (p.Pro58Ser) c.137C>T | |
17 | g.47283361del | CA2580094045 | ITGB3 | c.173del (p.Pro58LeufsTer9) c.138del | ClinVar dbSNP |
17 | g.47283361C>A | CA400020393 | ITGB3 | c.173C>A (p.Pro58His) c.138C>A | |
17 | g.47283361C>G | CA400020395 | ITGB3 | c.173C>G (p.Pro58Arg) c.138C>G | |
17 | g.47283361C>T | CA400020397 | ITGB3 | c.173C>T (p.Pro58Leu) c.138C>T | gnomAD v4 |
17 | g.47283362del | CA2809686251 | ITGB3 | c.174del (p.Leu59TrpfsTer8) c.139del | |
17 | g.47283362T>A | CA500429496 | ITGB3 | c.174T>A (p.Pro58=) c.139T>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283362T>C | CA500429497 | ITGB3 | c.174T>C (p.Pro58=) c.139T>C | ClinVar |
17 | g.47283362T>G | CA500429498 | ITGB3 | c.174T>G (p.Pro58=) c.139T>G | |
17 | g.47283362T= | CA2262604826 | ITGB3 | c.174T= (p.Pro58=) c.139T= | |
17 | g.47283363C>A | CA400020399 | ITGB3 | c.175C>A (p.Leu59Met) c.140C>A | |
17 | g.47283363C= | CA2262604827 | ITGB3 | c.175C= (p.Leu59=) c.140C= | |
17 | g.47283363C>G | CA400020401 | ITGB3 | c.175C>G (p.Leu59Val) c.140C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283363C>T | CA500429499 | ITGB3 | c.175C>T (p.Leu59=) c.140C>T | COSMIC COSMIC COSMIC |
17 | g.47283364T>A | CA400020404 | ITGB3 | c.176T>A (p.Leu59Gln) c.141T>A | |
17 | g.47283364T>C | CA123235 | ITGB3 | c.176T>C (p.Leu59Pro) c.141T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283364T>G | CA400020405 | ITGB3 | c.176T>G (p.Leu59Arg) c.141T>G | |
17 | g.47283364T= | CA2262604828 | ITGB3 | c.176T= (p.Leu59=) c.141T= | |
17 | g.47283365G>A | CA8622888 | ITGB3 | c.177G>A (p.Leu59=) c.142G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283365G>C | CA500429501 | ITGB3 | c.177G>C (p.Leu59=) c.142G>C | |
17 | g.47283365G= | CA2262604829 | ITGB3 | c.177G= (p.Leu59=) c.142G= | |
17 | g.47283365G>T | CA500429500 | ITGB3 | c.177G>T (p.Leu59=) c.142G>T | |
17 | g.47283367dup | CA2839596051 | ITGB3 | c.179dup (p.Ser61LeufsTer5) c.144dup | |
17 | g.47283366G>A | CA400020409 | ITGB3 | c.178G>A (p.Gly60Ser) c.143G>A | gnomAD v4 |
17 | g.47283366G>C | CA400020410 | ITGB3 | c.178G>C (p.Gly60Arg) c.143G>C | |
17 | g.47283366G>T | CA400020413 | ITGB3 | c.178G>T (p.Gly60Cys) c.143G>T | |
17 | g.47283367G>A | CA400020416 | ITGB3 | c.179G>A (p.Gly60Asp) c.144G>A | |
17 | g.47283367G>C | CA400020417 | ITGB3 | c.179G>C (p.Gly60Ala) c.144G>C | |
17 | g.47283367G= | CA2262604830 | ITGB3 | c.179G= (p.Gly60=) c.144G= | |
17 | g.47283367G>T | CA400020415 | ITGB3 | c.179G>T (p.Gly60Val) c.144G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283368C>A | CA500429503 | ITGB3 | c.180C>A (p.Gly60=) c.145C>A | |
17 | g.47283368C= | CA2262604831 | ITGB3 | c.180C= (p.Gly60=) c.145C= | |
17 | g.47283368C>G | CA500429502 | ITGB3 | c.180C>G (p.Gly60=) c.145C>G | |
17 | g.47283368C>T | CA8622889 | ITGB3 | c.180C>T (p.Gly60=) c.145C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283369T>A | CA400020420 | ITGB3 | c.181T>A (p.Ser61Thr) c.146T>A | |
17 | g.47283369T>C | CA8622890 | ITGB3 | c.181T>C (p.Ser61Pro) c.146T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283369T>G | CA400020422 | ITGB3 | c.181T>G (p.Ser61Ala) c.146T>G | |
17 | g.47283369T= | CA2262604832 | ITGB3 | c.181T= (p.Ser61=) c.146T= | |
17 | g.47283370C>A | CA400020434 | ITGB3 | c.182C>A (p.Ser61Ter) c.147C>A | |
17 | g.47283370C= | CA2262604833 | ITGB3 | c.182C= (p.Ser61=) c.147C= | |
17 | g.47283370C>G | CA8622891 | ITGB3 | c.182C>G (p.Ser61Ter) c.147C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283370C>T | CA400020424 | ITGB3 | c.182C>T (p.Ser61Leu) c.147C>T | gnomAD v4 |
17 | g.47283371A= | CA2262604834 | ITGB3 | c.183A= (p.Ser61=) c.148A= | |
17 | g.47283371A>C | CA500429505 | ITGB3 | c.183A>C (p.Ser61=) c.148A>C | |
17 | g.47283371A>G | CA500429504 | ITGB3 | c.183A>G (p.Ser61=) c.148A>G | ClinVar dbSNP gnomAD v4 |
17 | g.47283371A>T | CA500429506 | ITGB3 | c.183A>T (p.Ser61=) c.148A>T | |
17 | g.47283372C>A | CA400020437 | ITGB3 | c.184C>A (p.Pro62Thr) c.149C>A | gnomAD v4 |
17 | g.47283372C>G | CA400020439 | ITGB3 | c.184C>G (p.Pro62Ala) c.149C>G | gnomAD v4 |
17 | g.47283372C>T | CA400020441 | ITGB3 | c.184C>T (p.Pro62Ser) c.149C>T | gnomAD v4 |
17 | g.47283373C>A | CA400020443 | ITGB3 | c.185C>A (p.Pro62His) c.150C>A | |
17 | g.47283373C>G | CA400020445 | ITGB3 | c.185C>G (p.Pro62Arg) c.150C>G | |
17 | g.47283373C>T | CA400020446 | ITGB3 | c.185C>T (p.Pro62Leu) c.150C>T | |
17 | g.47283374T>A | CA500429507 | ITGB3 | c.186T>A (p.Pro62=) c.151T>A | |
17 | g.47283374T>C | CA500429508 | ITGB3 | c.186T>C (p.Pro62=) c.151T>C | |
17 | g.47283374T>G | CA500429509 | ITGB3 | c.186T>G (p.Pro62=) c.151T>G | |
17 | g.47283375C>A | CA400020448 | ITGB3 | c.187C>A (p.Arg63Ser) c.152C>A | |
17 | g.47283375C= | CA2262604835 | ITGB3 | c.187C= (p.Arg63=) c.152C= | |
17 | g.47283375C>G | CA400020451 | ITGB3 | c.187C>G (p.Arg63Gly) c.152C>G | |
17 | g.47283375C>T | CA8622892 | ITGB3 | c.187C>T (p.Arg63Cys) c.152C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47283376G>A | CA8622893 | ITGB3 | c.188G>A (p.Arg63His) c.153G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283376G>C | CA400020456 | ITGB3 | c.188G>C (p.Arg63Pro) c.153G>C | |
17 | g.47283376G= | CA2262604836 | ITGB3 | c.188G= (p.Arg63=) c.153G= | |
17 | g.47283376G>T | CA400020454 | ITGB3 | c.188G>T (p.Arg63Leu) c.153G>T | |
17 | g.47283377C>A | CA500429510 | ITGB3 | c.189C>A (p.Arg63=) c.154C>A | |
17 | g.47283377C>G | CA500429512 | ITGB3 | c.189C>G (p.Arg63=) c.154C>G | |
17 | g.47283377C>T | CA500429511 | ITGB3 | c.189C>T (p.Arg63=) c.154C>T | |
17 | g.47283378T>A | CA400020458 | ITGB3 | c.190T>A (p.Cys64Ser) c.155T>A | |
17 | g.47283378T>C | CA400020461 | ITGB3 | c.190T>C (p.Cys64Arg) c.155T>C | |
17 | g.47283378T>G | CA400020460 | ITGB3 | c.190T>G (p.Cys64Gly) c.155T>G | |
17 | g.47283380_47283381del | CA2839596052 | ITGB3 | c.192_193del (p.Cys64Ter) c.157_158del | |
17 | g.47283379G>A | CA291224490 | ITGB3 | c.191G>A (p.Cys64Tyr) c.156G>A | ClinVar dbSNP |
17 | g.47283379G>C | CA400020463 | ITGB3 | c.191G>C (p.Cys64Ser) c.156G>C | COSMIC COSMIC COSMIC |
17 | g.47283379G= | CA2262604837 | ITGB3 | c.191G= (p.Cys64=) c.156G= | |
17 | g.47283379G>T | CA400020465 | ITGB3 | c.191G>T (p.Cys64Phe) c.156G>T | dbSNP |
17 | g.47283380T>A | CA400020468 | ITGB3 | c.192T>A (p.Cys64Ter) c.157T>A | |
17 | g.47283380T>C | CA500429513 | ITGB3 | c.192T>C (p.Cys64=) c.157T>C | |
17 | g.47283380T>G | CA400020470 | ITGB3 | c.192T>G (p.Cys64Trp) c.157T>G | gnomAD v4 |
17 | g.47283381G>A | CA400020473 | ITGB3 | c.193G>A (p.Asp65Asn) c.158G>A | |
17 | g.47283381G>C | CA400020474 | ITGB3 | c.193G>C (p.Asp65His) c.158G>C | |
17 | g.47283381G>T | CA400020476 | ITGB3 | c.193G>T (p.Asp65Tyr) c.158G>T |