Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47283291_47283302delinsCAGGAGGTAGAG | CA2262604777 | ITGB3 | c.166-63_166-52delinsCAGGAGGTAGAG (n.166-63_166-52delinsCAGGAGGTAGAG) c.131-63_131-52delinsCAGGAGGTAGAG | |
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.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.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 | |
17 | g.47283382A>C | CA400020479 | ITGB3 | c.194A>C (p.Asp65Ala) c.159A>C | |
17 | g.47283382A>G | CA400020480 | ITGB3 | c.194A>G (p.Asp65Gly) c.159A>G | |
17 | g.47283382A>T | CA400020481 | ITGB3 | c.194A>T (p.Asp65Val) c.159A>T | |
17 | g.47283383C>A | CA400020484 | ITGB3 | c.195C>A (p.Asp65Glu) c.160C>A | |
17 | g.47283383C= | CA2262604838 | ITGB3 | c.195C= (p.Asp65=) c.160C= | |
17 | g.47283383C>G | CA400020486 | ITGB3 | c.195C>G (p.Asp65Glu) c.160C>G | |
17 | g.47283383C>T | CA8622894 | ITGB3 | c.195C>T (p.Asp65=) c.160C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283384C>A | CA400020489 | ITGB3 | c.196C>A (p.Leu66Met) c.161C>A | |
17 | g.47283384C>G | CA400020490 | ITGB3 | c.196C>G (p.Leu66Val) c.161C>G | |
17 | g.47283384C>T | CA500429514 | ITGB3 | c.196C>T (p.Leu66=) c.161C>T | |
17 | g.47283385T>A | CA400020494 | ITGB3 | c.197T>A (p.Leu66Gln) c.162T>A | |
17 | g.47283385T>C | CA400020495 | ITGB3 | c.197T>C (p.Leu66Pro) c.162T>C | gnomAD v4 |
17 | g.47283385T>G | CA8622895 | ITGB3 | c.197T>G (p.Leu66Arg) c.162T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283385T= | CA2262604839 | ITGB3 | c.197T= (p.Leu66=) c.162T= | |
17 | g.47283386G>A | CA500429516 | ITGB3 | c.198G>A (p.Leu66=) c.163G>A | |
17 | g.47283386G>C | CA500429518 | ITGB3 | c.198G>C (p.Leu66=) c.163G>C | |
17 | g.47283386G>T | CA500429517 | ITGB3 | c.198G>T (p.Leu66=) c.163G>T | |
17 | g.47283387A>C | CA400020498 | ITGB3 | c.199A>C (p.Lys67Gln) c.164A>C | |
17 | g.47283387A>G | CA400020499 | ITGB3 | c.199A>G (p.Lys67Glu) c.164A>G | |
17 | g.47283387A>T | CA400020501 | ITGB3 | c.199A>T (p.Lys67Ter) c.164A>T | |
17 | g.47283388A>C | CA400020504 | ITGB3 | c.200A>C (p.Lys67Thr) c.165A>C | |
17 | g.47283388A>G | CA400020506 | ITGB3 | c.200A>G (p.Lys67Arg) c.165A>G | |
17 | g.47283388A>T | CA400020507 | ITGB3 | c.200A>T (p.Lys67Met) c.165A>T | |
17 | g.47283389G>A | CA8622896 | ITGB3 | c.201G>A (p.Lys67=) c.166G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283389G>C | CA400020510 | ITGB3 | c.201G>C (p.Lys67Asn) c.166G>C | |
17 | g.47283389G= | CA2262604840 | ITGB3 | c.201G= (p.Lys67=) c.166G= | |
17 | g.47283389G>T | CA400020511 | ITGB3 | c.201G>T (p.Lys67Asn) c.166G>T | |
17 | g.47283390G>A | CA400020513 | ITGB3 | c.202G>A (p.Glu68Lys) c.167G>A | |
17 | g.47283390G>C | CA400020517 | ITGB3 | c.202G>C (p.Glu68Gln) c.167G>C | |
17 | g.47283390G>T | CA400020515 | ITGB3 | c.202G>T (p.Glu68Ter) c.167G>T | |
17 | g.47283391A>C | CA400020518 | ITGB3 | c.203A>C (p.Glu68Ala) c.168A>C | |
17 | g.47283391A>G | CA400020520 | ITGB3 | c.203A>G (p.Glu68Gly) c.168A>G | |
17 | g.47283391A>T | CA400020522 | ITGB3 | c.203A>T (p.Glu68Val) c.168A>T | |
17 | g.47283392G>A | CA500429519 | ITGB3 | c.204G>A (p.Glu68=) c.169G>A | |
17 | g.47283392G>C | CA400020524 | ITGB3 | c.204G>C (p.Glu68Asp) c.169G>C | |
17 | g.47283392G= | CA2262604841 | ITGB3 | c.204G= (p.Glu68=) c.169G= | |
17 | g.47283392G>T | CA400020526 | ITGB3 | c.204G>T (p.Glu68Asp) c.169G>T | |
17 | g.47283393A= | CA2262604842 | ITGB3 | c.205A= (p.Asn69=) c.170A= | |
17 | g.47283393A>C | CA400020528 | ITGB3 | c.205A>C (p.Asn69His) c.170A>C | |
17 | g.47283393A>G | CA400020530 | ITGB3 | c.205A>G (p.Asn69Asp) c.170A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283393A>T | CA400020531 | ITGB3 | c.205A>T (p.Asn69Tyr) c.170A>T | |
17 | g.47283394dup | CA8622897 | ITGB3 | c.206dup (p.Asn69LysfsTer6) c.171dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283394A>C | CA400020533 | ITGB3 | c.206A>C (p.Asn69Thr) c.171A>C | |
17 | g.47283394A>G | CA400020535 | ITGB3 | c.206A>G (p.Asn69Ser) c.171A>G | |
17 | g.47283394A>T | CA400020537 | ITGB3 | c.206A>T (p.Asn69Ile) c.171A>T | |
17 | g.47283395T>A | CA400020538 | ITGB3 | c.207T>A (p.Asn69Lys) c.172T>A | |
17 | g.47283395T>C | CA500429521 | ITGB3 | c.207T>C (p.Asn69=) c.172T>C | |
17 | g.47283395T>G | CA400020539 | ITGB3 | c.207T>G (p.Asn69Lys) c.172T>G | |
17 | g.47283396C>A | CA400020540 | ITGB3 | c.208C>A (p.Leu70Met) c.173C>A | |
17 | g.47283396C>G | CA400020541 | ITGB3 | c.208C>G (p.Leu70Val) c.173C>G | |
17 | g.47283396C>T | CA500429522 | ITGB3 | c.208C>T (p.Leu70=) c.173C>T | |
17 | g.47283397T>A | CA400020542 | ITGB3 | c.209T>A (p.Leu70Gln) c.174T>A | |
17 | g.47283397T>C | CA400020543 | ITGB3 | c.209T>C (p.Leu70Pro) c.174T>C | |
17 | g.47283397T>G | CA400020544 | ITGB3 | c.209T>G (p.Leu70Arg) c.174T>G | |
17 | g.47283398G>A | CA291224493 | ITGB3 | c.210G>A (p.Leu70=) c.175G>A | dbSNP gnomAD v2 |
17 | g.47283398G>C | CA500429523 | ITGB3 | c.210G>C (p.Leu70=) c.175G>C | |
17 | g.47283398G= | CA2262604843 | ITGB3 | c.210G= (p.Leu70=) c.175G= | |
17 | g.47283398G>T | CA500429524 | ITGB3 | c.210G>T (p.Leu70=) c.175G>T | |
17 | g.47283399C>A | CA400020545 | ITGB3 | c.211C>A (p.Leu71Met) c.176C>A | |
17 | g.47283399C= | CA2262604844 | ITGB3 | c.211C= (p.Leu71=) c.176C= | |
17 | g.47283399C>G | CA400020546 | ITGB3 | c.211C>G (p.Leu71Val) c.176C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283399C>T | CA500429525 | ITGB3 | c.211C>T (p.Leu71=) c.176C>T | |
17 | g.47283400T>A | CA400020547 | ITGB3 | c.212T>A (p.Leu71Gln) c.177T>A | |
17 | g.47283400T>C | CA400020548 | ITGB3 | c.212T>C (p.Leu71Pro) c.177T>C | |
17 | g.47283400T>G | CA400020549 | ITGB3 | c.212T>G (p.Leu71Arg) c.177T>G |