Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
17 | g.47283430A>C | CA400020628 | ITGB3 | c.242A>C (p.Glu81Ala) c.207A>C | |
17 | g.47283430A>G | CA400020630 | ITGB3 | c.242A>G (p.Glu81Gly) c.207A>G | |
17 | g.47283430A>T | CA400020632 | ITGB3 | c.242A>T (p.Glu81Val) c.207A>T | |
17 | g.47283431G>A | CA500429546 | ITGB3 | c.243G>A (p.Glu81=) c.208G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47283431G>C | CA400020634 | ITGB3 | c.243G>C (p.Glu81Asp) c.208G>C | |
17 | g.47283431G= | CA2262604859 | ITGB3 | c.243G= (p.Glu81=) c.208G= | |
17 | g.47283431G>T | CA400020636 | ITGB3 | c.243G>T (p.Glu81Asp) c.208G>T | |
17 | g.47283432T>A | CA400020638 | ITGB3 | c.244T>A (p.Phe82Ile) c.209T>A | |
17 | g.47283432T>C | CA400020639 | ITGB3 | c.244T>C (p.Phe82Leu) c.209T>C | |
17 | g.47283432T>G | CA400020640 | ITGB3 | c.244T>G (p.Phe82Val) c.209T>G | gnomAD v4 |
17 | g.47283433T>A | CA400020643 | ITGB3 | c.245T>A (p.Phe82Tyr) c.210T>A | |
17 | g.47283433T>C | CA400020645 | ITGB3 | c.245T>C (p.Phe82Ser) c.210T>C | |
17 | g.47283433T>G | CA400020646 | ITGB3 | c.245T>G (p.Phe82Cys) c.210T>G | |
17 | g.47283434C>A | CA400020648 | ITGB3 | c.246C>A (p.Phe82Leu) c.211C>A | dbSNP gnomAD v4 |
17 | g.47283434C= | CA2262604860 | ITGB3 | c.246C= (p.Phe82=) c.211C= | |
17 | g.47283434C>G | CA400020650 | ITGB3 | c.246C>G (p.Phe82Leu) c.211C>G | |
17 | g.47283434C>T | CA500429547 | ITGB3 | c.246C>T (p.Phe82=) c.211C>T | dbSNP |
17 | g.47283435C>A | CA400020652 | ITGB3 | c.247C>A (p.Pro83Thr) c.212C>A | |
17 | g.47283435C>G | CA400020657 | ITGB3 | c.247C>G (p.Pro83Ala) c.212C>G | |
17 | g.47283435C>T | CA400020655 | ITGB3 | c.247C>T (p.Pro83Ser) c.212C>T | gnomAD v4 |
17 | g.47283436C>A | CA400020659 | ITGB3 | c.248C>A (p.Pro83Gln) c.213C>A | gnomAD v4 |
17 | g.47283436C>G | CA400020661 | ITGB3 | c.248C>G (p.Pro83Arg) c.213C>G | |
17 | g.47283436C>T | CA400020663 | ITGB3 | c.248C>T (p.Pro83Leu) c.213C>T | |
17 | g.47283437A>C | CA500429549 | ITGB3 | c.249A>C (p.Pro83=) c.214A>C | gnomAD v4 |
17 | g.47283437A>G | CA500429548 | ITGB3 | c.249A>G (p.Pro83=) c.214A>G | |
17 | g.47283437A>T | CA500429550 | ITGB3 | c.249A>T (p.Pro83=) c.214A>T | |
17 | g.47283438G>A | CA400020665 | ITGB3 | c.250G>A (p.Val84Met) c.215G>A | gnomAD v4 |
17 | g.47283438G>C | CA400020667 | ITGB3 | c.250G>C (p.Val84Leu) c.215G>C | |
17 | g.47283438G>T | CA400020668 | ITGB3 | c.250G>T (p.Val84Leu) c.215G>T | |
17 | g.47283439T>A | CA400020671 | ITGB3 | c.251T>A (p.Val84Glu) c.216T>A | |
17 | g.47283439T>C | CA400020673 | ITGB3 | c.251T>C (p.Val84Ala) c.216T>C | |
17 | g.47283439T>G | CA400020675 | ITGB3 | c.251T>G (p.Val84Gly) c.216T>G | |
17 | g.47283440G>A | CA500429551 | ITGB3 | c.252G>A (p.Val84=) c.217G>A | gnomAD v4 |
17 | g.47283440G>C | CA500429553 | ITGB3 | c.252G>C (p.Val84=) c.217G>C | |
17 | g.47283440G>T | CA500429552 | ITGB3 | c.252G>T (p.Val84=) c.217G>T | |
17 | g.47283441A>C | CA400020681 | ITGB3 | c.253A>C (p.Ser85Arg) c.218A>C | |
17 | g.47283441A>G | CA400020679 | ITGB3 | c.253A>G (p.Ser85Gly) c.218A>G | |
17 | g.47283441A>T | CA400020677 | ITGB3 | c.253A>T (p.Ser85Cys) c.218A>T | |
17 | g.47283442G>A | CA400020683 | ITGB3 | c.254G>A (p.Ser85Asn) c.219G>A | gnomAD v4 |
17 | g.47283442G>C | CA400020684 | ITGB3 | c.254G>C (p.Ser85Thr) c.219G>C | |
17 | g.47283442G>T | CA400020685 | ITGB3 | c.254G>T (p.Ser85Ile) c.219G>T | |
17 | g.47283443T>A | CA400020686 | ITGB3 | c.255T>A (p.Ser85Arg) c.220T>A | |
17 | g.47283443T>C | CA500429554 | ITGB3 | c.255T>C (p.Ser85=) c.220T>C | |
17 | g.47283443T>G | CA400020687 | ITGB3 | c.255T>G (p.Ser85Arg) c.220T>G | |
17 | g.47283444G>A | CA400020688 | ITGB3 | c.256G>A (p.Glu86Lys) c.221G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.47283444G>C | CA400020689 | ITGB3 | c.256G>C (p.Glu86Gln) c.221G>C | |
17 | g.47283444G= | CA2262604861 | ITGB3 | c.256G= (p.Glu86=) c.221G= | |
17 | g.47283444G>T | CA400020690 | ITGB3 | c.256G>T (p.Glu86Ter) c.221G>T | |
17 | g.47283445A>C | CA400020691 | ITGB3 | c.257A>C (p.Glu86Ala) c.222A>C | |
17 | g.47283445A>G | CA400020692 | ITGB3 | c.257A>G (p.Glu86Gly) c.222A>G | |
17 | g.47283445A>T | CA400020693 | ITGB3 | c.257A>T (p.Glu86Val) c.222A>T | |
17 | g.47283446G>A | CA500429555 | ITGB3 | c.258G>A (p.Glu86=) c.223G>A | |
17 | g.47283446G>C | CA400020694 | ITGB3 | c.258G>C (p.Glu86Asp) c.223G>C | |
17 | g.47283446G>T | CA400020695 | ITGB3 | c.258G>T (p.Glu86Asp) c.223G>T | |
17 | g.47283447G>A | CA400020696 | ITGB3 | c.259G>A (p.Ala87Thr) c.224G>A | gnomAD v4 |
17 | g.47283447G>C | CA400020698 | ITGB3 | c.259G>C (p.Ala87Pro) c.224G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283447G= | CA2262604862 | ITGB3 | c.259G= (p.Ala87=) c.224G= | |
17 | g.47283447G>T | CA400020697 | ITGB3 | c.259G>T (p.Ala87Ser) c.224G>T | |
17 | g.47283448C>A | CA400020699 | ITGB3 | c.260C>A (p.Ala87Asp) c.225C>A | gnomAD v4 |
17 | g.47283448C>G | CA400020700 | ITGB3 | c.260C>G (p.Ala87Gly) c.225C>G | |
17 | g.47283448C>T | CA400020701 | ITGB3 | c.260C>T (p.Ala87Val) c.225C>T | |
17 | g.47283449C>A | CA8622903 | ITGB3 | c.261C>A (p.Ala87=) c.226C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47283449C= | CA2262604863 | ITGB3 | c.261C= (p.Ala87=) c.226C= | |
17 | g.47283449C>G | CA8622902 | ITGB3 | c.261C>G (p.Ala87=) c.226C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47283449C>T | CA500429556 | ITGB3 | c.261C>T (p.Ala87=) c.226C>T | |
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 |