Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
17 | g.47283401G>A | CA500429529 | ITGB3 | c.213G>A (p.Leu71=) c.178G>A | |
17 | g.47283401G>C | CA500429526 | ITGB3 | c.213G>C (p.Leu71=) c.178G>C | |
17 | g.47283401G>T | CA500429528 | ITGB3 | c.213G>T (p.Leu71=) c.178G>T | |
17 | g.47283402A>C | CA400020551 | ITGB3 | c.214A>C (p.Lys72Gln) c.179A>C | |
17 | g.47283402A>G | CA400020552 | ITGB3 | c.214A>G (p.Lys72Glu) c.179A>G | |
17 | g.47283402A>T | CA400020550 | ITGB3 | c.214A>T (p.Lys72Ter) c.179A>T | |
17 | g.47283403A>C | CA400020555 | ITGB3 | c.215A>C (p.Lys72Thr) c.180A>C | |
17 | g.47283403A>G | CA400020553 | ITGB3 | c.215A>G (p.Lys72Arg) c.180A>G | |
17 | g.47283403A>T | CA400020554 | ITGB3 | c.215A>T (p.Lys72Met) c.180A>T | |
17 | g.47283404G>A | CA500429530 | ITGB3 | c.216G>A (p.Lys72=) c.181G>A | |
17 | g.47283404G>C | CA400020556 | ITGB3 | c.216G>C (p.Lys72Asn) c.181G>C | |
17 | g.47283404G>T | CA400020557 | ITGB3 | c.216G>T (p.Lys72Asn) c.181G>T | |
17 | g.47283405G>A | CA8622898 | ITGB3 | c.217G>A (p.Asp73Asn) c.182G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283405G>C | CA400020558 | ITGB3 | c.217G>C (p.Asp73His) c.182G>C | |
17 | g.47283405G= | CA2262604845 | ITGB3 | c.217G= (p.Asp73=) c.182G= | |
17 | g.47283405G>T | CA400020559 | ITGB3 | c.217G>T (p.Asp73Tyr) c.182G>T | |
17 | g.47283406A= | CA2262604846 | ITGB3 | c.218A= (p.Asp73=) c.183A= | |
17 | g.47283406A>C | CA400020560 | ITGB3 | c.218A>C (p.Asp73Ala) c.183A>C | |
17 | g.47283406A>G | CA400020561 | ITGB3 | c.218A>G (p.Asp73Gly) c.183A>G | |
17 | g.47283406A>T | CA400020562 | ITGB3 | c.218A>T (p.Asp73Val) c.183A>T | dbSNP |
17 | g.47283407T>A | CA400020563 | ITGB3 | c.219T>A (p.Asp73Glu) c.184T>A | |
17 | g.47283407T>C | CA500429531 | ITGB3 | c.219T>C (p.Asp73=) c.184T>C | gnomAD v4 |
17 | g.47283407T>G | CA400020564 | ITGB3 | c.219T>G (p.Asp73Glu) c.184T>G | |
17 | g.47283407dup | CA2638435213 | ITGB3 | c.219dup (p.Asn74Ter) c.184dup | gnomAD v4 |
17 | g.47283408A= | CA2262604847 | ITGB3 | c.220A= (p.Asn74=) c.185A= | |
17 | g.47283408A>C | CA400020567 | ITGB3 | c.220A>C (p.Asn74His) c.185A>C | |
17 | g.47283408A>G | CA400020565 | ITGB3 | c.220A>G (p.Asn74Asp) c.185A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283408A>T | CA400020566 | ITGB3 | c.220A>T (p.Asn74Tyr) c.185A>T | |
17 | g.47283409A>C | CA400020568 | ITGB3 | c.221A>C (p.Asn74Thr) c.186A>C | |
17 | g.47283409A>G | CA400020569 | ITGB3 | c.221A>G (p.Asn74Ser) c.186A>G | |
17 | g.47283409A>T | CA400020570 | ITGB3 | c.221A>T (p.Asn74Ile) c.186A>T | |
17 | g.47283410C>A | CA400020571 | ITGB3 | c.222C>A (p.Asn74Lys) c.187C>A | |
17 | g.47283410C= | CA2262604849 | ITGB3 | c.222C= (p.Asn74=) c.187C= | |
17 | g.47283410C>G | CA400020572 | ITGB3 | c.222C>G (p.Asn74Lys) c.187C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283410C>T | CA500429532 | ITGB3 | c.222C>T (p.Asn74=) c.187C>T | |
17 | g.47283410_47283412delinsCTG | CA2262604848 | ITGB3 | c.222_224delinsCTG (p.Asn74=) c.187_189delinsCTG | |
17 | g.47283411_47283415del | CA645597062 | ITGB3 | c.223_227del (p.Cys75ProfsTer10) c.188_192del | COSMIC COSMIC COSMIC |
17 | g.47283411T>A | CA400020573 | ITGB3 | c.223T>A (p.Cys75Ser) c.188T>A | |
17 | g.47283411T>C | CA400020574 | ITGB3 | c.223T>C (p.Cys75Arg) c.188T>C | gnomAD v4 |
17 | g.47283411T>G | CA400020575 | ITGB3 | c.223T>G (p.Cys75Gly) c.188T>G | |
17 | g.47283411_47283412delinsTG | CA2262604850 | ITGB3 | c.223_224delinsTG (p.Cys75=) c.188_189delinsTG | |
17 | g.47283413_47283414del | CA626684825 | ITGB3 | c.225_226del (p.Ala76ProfsTer10) c.190_191del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283412del | CA8622899 | ITGB3 | c.224del (p.Cys75LeufsTer10) c.189del | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.47283412G>A | CA400020576 | ITGB3 | c.224G>A (p.Cys75Tyr) c.189G>A | |
17 | g.47283412G>C | CA400020577 | ITGB3 | c.224G>C (p.Cys75Ser) c.189G>C | |
17 | g.47283412G>T | CA400020578 | ITGB3 | c.224G>T (p.Cys75Phe) c.189G>T | |
17 | g.47283413T>A | CA400020580 | ITGB3 | c.225T>A (p.Cys75Ter) c.190T>A | |
17 | g.47283413T>C | CA500429533 | ITGB3 | c.225T>C (p.Cys75=) c.190T>C | dbSNP |
17 | g.47283413T>G | CA400020579 | ITGB3 | c.225T>G (p.Cys75Trp) c.190T>G | |
17 | g.47283413T= | CA2262604851 | ITGB3 | c.225T= (p.Cys75=) c.190T= | |
17 | g.47283414G>A | CA400020581 | ITGB3 | c.226G>A (p.Ala76Thr) c.191G>A | |
17 | g.47283414G>C | CA400020582 | ITGB3 | c.226G>C (p.Ala76Pro) c.191G>C | |
17 | g.47283414G>T | CA400020583 | ITGB3 | c.226G>T (p.Ala76Ser) c.191G>T | |
17 | g.47283415C>A | CA400020584 | ITGB3 | c.227C>A (p.Ala76Asp) c.192C>A | |
17 | g.47283415C= | CA2262604852 | ITGB3 | c.227C= (p.Ala76=) c.192C= | |
17 | g.47283415C>G | CA400020585 | ITGB3 | c.227C>G (p.Ala76Gly) c.192C>G | |
17 | g.47283415C>T | CA400020586 | ITGB3 | c.227C>T (p.Ala76Val) c.192C>T | dbSNP gnomAD v2 |
17 | g.47283416C>A | CA500429534 | ITGB3 | c.228C>A (p.Ala76=) c.193C>A | |
17 | g.47283416C>G | CA500429536 | ITGB3 | c.228C>G (p.Ala76=) c.193C>G | |
17 | g.47283416C>T | CA500429535 | ITGB3 | c.228C>T (p.Ala76=) c.193C>T | |
17 | g.47283417C>A | CA400020589 | ITGB3 | c.229C>A (p.Pro77Thr) c.194C>A | |
17 | g.47283417C>G | CA400020588 | ITGB3 | c.229C>G (p.Pro77Ala) c.194C>G | |
17 | g.47283417C>T | CA400020587 | ITGB3 | c.229C>T (p.Pro77Ser) c.194C>T | |
17 | g.47283418C>A | CA400020590 | ITGB3 | c.230C>A (p.Pro77Gln) c.195C>A | |
17 | g.47283418C= | CA2262604853 | ITGB3 | c.230C= (p.Pro77=) c.195C= | |
17 | g.47283418C>G | CA8622900 | ITGB3 | c.230C>G (p.Pro77Arg) c.195C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283418C>T | CA400020591 | ITGB3 | c.230C>T (p.Pro77Leu) c.195C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283419A= | CA2262604854 | ITGB3 | c.231A= (p.Pro77=) c.196A= | |
17 | g.47283419A>C | CA500429539 | ITGB3 | c.231A>C (p.Pro77=) c.196A>C | |
17 | g.47283419A>G | CA500429537 | ITGB3 | c.231A>G (p.Pro77=) c.196A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283419A>T | CA500429538 | ITGB3 | c.231A>T (p.Pro77=) c.196A>T | gnomAD v4 |
17 | g.47283420G>A | CA400020592 | ITGB3 | c.232G>A (p.Glu78Lys) c.197G>A | |
17 | g.47283420G>C | CA400020593 | ITGB3 | c.232G>C (p.Glu78Gln) c.197G>C | |
17 | g.47283420G>T | CA400020594 | ITGB3 | c.232G>T (p.Glu78Ter) c.197G>T | |
17 | g.47283421A>C | CA400020595 | ITGB3 | c.233A>C (p.Glu78Ala) c.198A>C | |
17 | g.47283421A>G | CA400020597 | ITGB3 | c.233A>G (p.Glu78Gly) c.198A>G | |
17 | g.47283421A>T | CA400020596 | ITGB3 | c.233A>T (p.Glu78Val) c.198A>T | |
17 | g.47283422A>C | CA400020598 | ITGB3 | c.234A>C (p.Glu78Asp) c.199A>C | |
17 | g.47283422A>G | CA500429541 | ITGB3 | c.234A>G (p.Glu78=) c.199A>G | |
17 | g.47283422A>T | CA400020599 | ITGB3 | c.234A>T (p.Glu78Asp) c.199A>T | |
17 | g.47283423T>A | CA400020600 | ITGB3 | c.235T>A (p.Ser79Thr) c.200T>A | |
17 | g.47283423T>C | CA400020601 | ITGB3 | c.235T>C (p.Ser79Pro) c.200T>C | |
17 | g.47283423T>G | CA291224495 | ITGB3 | c.235T>G (p.Ser79Ala) c.200T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283423T= | CA2262604855 | ITGB3 | c.235T= (p.Ser79=) c.200T= | |
17 | g.47283424C>A | CA400020604 | ITGB3 | c.236C>A (p.Ser79Tyr) c.201C>A | |
17 | g.47283424C>G | CA400020605 | ITGB3 | c.236C>G (p.Ser79Cys) c.201C>G | gnomAD v4 |
17 | g.47283424C>T | CA400020606 | ITGB3 | c.236C>T (p.Ser79Phe) c.201C>T | COSMIC COSMIC COSMIC |
17 | g.47283425C>A | CA500429544 | ITGB3 | c.237C>A (p.Ser79=) c.202C>A | |
17 | g.47283425C>G | CA500429542 | ITGB3 | c.237C>G (p.Ser79=) c.202C>G | |
17 | g.47283425C>T | CA500429543 | ITGB3 | c.237C>T (p.Ser79=) c.202C>T | |
17 | g.47283426A= | CA2262604856 | ITGB3 | c.238A= (p.Ile80=) c.203A= | |
17 | g.47283426A>C | CA400020608 | ITGB3 | c.238A>C (p.Ile80Leu) c.203A>C | |
17 | g.47283426A>G | CA400020610 | ITGB3 | c.238A>G (p.Ile80Val) c.203A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47283426A>T | CA400020612 | ITGB3 | c.238A>T (p.Ile80Phe) c.203A>T | |
17 | g.47283427T>A | CA400020617 | ITGB3 | c.239T>A (p.Ile80Asn) c.204T>A | gnomAD v4 |
17 | g.47283427T>C | CA400020615 | ITGB3 | c.239T>C (p.Ile80Thr) c.204T>C | |
17 | g.47283427T>G | CA400020613 | ITGB3 | c.239T>G (p.Ile80Ser) c.204T>G | |
17 | g.47283428C>A | CA500429545 | ITGB3 | c.240C>A (p.Ile80=) c.205C>A | dbSNP |
17 | g.47283428C= | CA2262604857 | ITGB3 | c.240C= (p.Ile80=) c.205C= | |
17 | g.47283428C>G | CA400020619 | ITGB3 | c.240C>G (p.Ile80Met) c.205C>G | |
17 | g.47283428C>T | CA8622901 | ITGB3 | c.240C>T (p.Ile80=) c.205C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.47283429G>A | CA400020622 | ITGB3 | c.241G>A (p.Glu81Lys) c.206G>A | dbSNP gnomAD v4 |
17 | g.47283429G>C | CA400020626 | ITGB3 | c.241G>C (p.Glu81Gln) c.206G>C | |
17 | g.47283429G= | CA2262604858 | ITGB3 | c.241G= (p.Glu81=) c.206G= | |
17 | g.47283429G>T | CA400020624 | ITGB3 | c.241G>T (p.Glu81Ter) c.206G>T |