Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39872335A>C | CA499931629 | ZPBP2 | c.472A>C (p.Arg158=) c.406A>C (p.Arg136=) c.118A>C (p.Arg40=) c.407-709A>C (n.407-709A>C) n.663A>C | |
17 | g.39872335A>G | CA399279532 | ZPBP2 | c.472A>G (p.Arg158Gly) c.406A>G (p.Arg136Gly) c.118A>G (p.Arg40Gly) c.407-709A>G (n.407-709A>G) n.663A>G | gnomAD v3 gnomAD v4 |
17 | g.39872335A>T | CA399279535 | ZPBP2 | c.472A>T (p.Arg158Ter) c.406A>T (p.Arg136Ter) c.118A>T (p.Arg40Ter) c.407-709A>T (n.407-709A>T) n.663A>T | |
17 | g.39872336G>A | CA399279538 | ZPBP2 | c.473G>A (p.Arg158Lys) c.407G>A (p.Arg136Lys) c.119G>A (p.Arg40Lys) c.407-708G>A (n.407-708G>A) n.664G>A | |
17 | g.39872336G>C | CA399279541 | ZPBP2 | c.473G>C (p.Arg158Thr) c.407G>C (p.Arg136Thr) c.119G>C (p.Arg40Thr) c.407-708G>C (n.407-708G>C) n.664G>C | |
17 | g.39872336G>T | CA399279543 | ZPBP2 | c.473G>T (p.Arg158Ile) c.407G>T (p.Arg136Ile) c.119G>T (p.Arg40Ile) c.407-708G>T (n.407-708G>T) n.664G>T | |
17 | g.39872337A>C | CA399279546 | ZPBP2 | c.474A>C (p.Arg158Ser) c.408A>C (p.Arg136Ser) c.120A>C (p.Arg40Ser) c.407-707A>C (n.407-707A>C) n.665A>C | |
17 | g.39872337A>G | CA499931630 | ZPBP2 | c.474A>G (p.Arg158=) c.408A>G (p.Arg136=) c.120A>G (p.Arg40=) c.407-707A>G (n.407-707A>G) n.665A>G | |
17 | g.39872337A>T | CA399279550 | ZPBP2 | c.474A>T (p.Arg158Ser) c.408A>T (p.Arg136Ser) c.120A>T (p.Arg40Ser) c.407-707A>T (n.407-707A>T) n.665A>T | |
17 | g.39872338T>A | CA399279553 | ZPBP2 | c.475T>A (p.Tyr159Asn) c.409T>A (p.Tyr137Asn) c.121T>A (p.Tyr41Asn) c.407-706T>A (n.407-706T>A) n.666T>A | |
17 | g.39872338T>C | CA399279556 | ZPBP2 | c.475T>C (p.Tyr159His) c.409T>C (p.Tyr137His) c.121T>C (p.Tyr41His) c.407-706T>C (n.407-706T>C) n.666T>C | gnomAD v4 |
17 | g.39872338T>G | CA399279558 | ZPBP2 | c.475T>G (p.Tyr159Asp) c.409T>G (p.Tyr137Asp) c.121T>G (p.Tyr41Asp) c.407-706T>G (n.407-706T>G) n.666T>G | |
17 | g.39872339A>C | CA399279559 | ZPBP2 | c.476A>C (p.Tyr159Ser) c.410A>C (p.Tyr137Ser) c.122A>C (p.Tyr41Ser) c.407-705A>C (n.407-705A>C) n.667A>C | gnomAD v4 |
17 | g.39872339A>G | CA399279563 | ZPBP2 | c.476A>G (p.Tyr159Cys) c.410A>G (p.Tyr137Cys) c.122A>G (p.Tyr41Cys) c.407-705A>G (n.407-705A>G) n.667A>G | |
17 | g.39872339A>T | CA399279560 | ZPBP2 | c.476A>T (p.Tyr159Phe) c.410A>T (p.Tyr137Phe) c.122A>T (p.Tyr41Phe) c.407-705A>T (n.407-705A>T) n.667A>T | COSMIC |
17 | g.39872339_39872340delinsAC | CA2259290864 | ZPBP2 | c.476_477delinsAC (p.Tyr159=) c.410_411delinsAC (p.Tyr137=) c.122_123delinsAC (p.Tyr41=) c.407-705_407-704delinsAC (n.407-705_407-704delinsAC) n.667_668delinsAC | |
17 | g.39872340del | CA2259290865 | ZPBP2 | c.477del (p.Tyr159Ter) c.411del (p.Tyr137Ter) c.123del (p.Tyr41Ter) c.407-704del (n.407-704del) n.668del | dbSNP gnomAD v4 |
17 | g.39872340C>A | CA399279565 | ZPBP2 | c.477C>A (p.Tyr159Ter) c.411C>A (p.Tyr137Ter) c.123C>A (p.Tyr41Ter) c.407-704C>A (n.407-704C>A) n.668C>A | gnomAD v4 |
17 | g.39872340C= | CA2259290866 | ZPBP2 | c.477C= (p.Tyr159=) c.411C= (p.Tyr137=) c.123C= (p.Tyr41=) c.407-704C= (n.407-704C=) n.668C= | |
17 | g.39872340C>G | CA399279568 | ZPBP2 | c.477C>G (p.Tyr159Ter) c.411C>G (p.Tyr137Ter) c.123C>G (p.Tyr41Ter) c.407-704C>G (n.407-704C>G) n.668C>G | |
17 | g.39872340C>T | CA499931631 | ZPBP2 | c.477C>T (p.Tyr159=) c.411C>T (p.Tyr137=) c.123C>T (p.Tyr41=) c.407-704C>T (n.407-704C>T) n.668C>T | dbSNP gnomAD v4 |
17 | g.39872341A= | CA2259290867 | ZPBP2 | c.478A= (p.Asn160=) c.412A= (p.Asn138=) c.124A= (p.Asn42=) c.407-703A= (n.407-703A=) n.669A= | |
17 | g.39872341A>C | CA399279570 | ZPBP2 | c.478A>C (p.Asn160His) c.412A>C (p.Asn138His) c.124A>C (p.Asn42His) c.407-703A>C (n.407-703A>C) n.669A>C | |
17 | g.39872341A>G | CA399279573 | ZPBP2 | c.478A>G (p.Asn160Asp) c.412A>G (p.Asn138Asp) c.124A>G (p.Asn42Asp) c.407-703A>G (n.407-703A>G) n.669A>G | dbSNP gnomAD v4 |
17 | g.39872341A>T | CA399279576 | ZPBP2 | c.478A>T (p.Asn160Tyr) c.412A>T (p.Asn138Tyr) c.124A>T (p.Asn42Tyr) c.407-703A>T (n.407-703A>T) n.669A>T | |
17 | g.39872342A>C | CA399279580 | ZPBP2 | c.479A>C (p.Asn160Thr) c.413A>C (p.Asn138Thr) c.125A>C (p.Asn42Thr) c.407-702A>C (n.407-702A>C) n.670A>C | |
17 | g.39872342A>G | CA399279581 | ZPBP2 | c.479A>G (p.Asn160Ser) c.413A>G (p.Asn138Ser) c.125A>G (p.Asn42Ser) c.407-702A>G (n.407-702A>G) n.670A>G | |
17 | g.39872342A>T | CA399279584 | ZPBP2 | c.479A>T (p.Asn160Ile) c.413A>T (p.Asn138Ile) c.125A>T (p.Asn42Ile) c.407-702A>T (n.407-702A>T) n.670A>T | |
17 | g.39872343T>A | CA399279586 | ZPBP2 | c.480T>A (p.Asn160Lys) c.414T>A (p.Asn138Lys) c.126T>A (p.Asn42Lys) c.407-701T>A (n.407-701T>A) n.671T>A | |
17 | g.39872343T>C | CA499931632 | ZPBP2 | c.480T>C (p.Asn160=) c.414T>C (p.Asn138=) c.126T>C (p.Asn42=) c.407-701T>C (n.407-701T>C) n.671T>C | |
17 | g.39872343T>G | CA399279589 | ZPBP2 | c.480T>G (p.Asn160Lys) c.414T>G (p.Asn138Lys) c.126T>G (p.Asn42Lys) c.407-701T>G (n.407-701T>G) n.671T>G | |
17 | g.39872344G>A | CA399279594 | ZPBP2 | c.481G>A (p.Asp161Asn) c.415G>A (p.Asp139Asn) c.127G>A (p.Asp43Asn) c.407-700G>A (n.407-700G>A) n.672G>A | |
17 | g.39872344G>C | CA399279598 | ZPBP2 | c.481G>C (p.Asp161His) c.415G>C (p.Asp139His) c.127G>C (p.Asp43His) c.407-700G>C (n.407-700G>C) n.672G>C | |
17 | g.39872344G>T | CA399279592 | ZPBP2 | c.481G>T (p.Asp161Tyr) c.415G>T (p.Asp139Tyr) c.127G>T (p.Asp43Tyr) c.407-700G>T (n.407-700G>T) n.672G>T | |
17 | g.39872345A= | CA2259290868 | ZPBP2 | c.482A= (p.Asp161=) c.416A= (p.Asp139=) c.128A= (p.Asp43=) c.407-699A= (n.407-699A=) n.673A= | |
17 | g.39872345A>C | CA399279602 | ZPBP2 | c.482A>C (p.Asp161Ala) c.416A>C (p.Asp139Ala) c.128A>C (p.Asp43Ala) c.407-699A>C (n.407-699A>C) n.673A>C | |
17 | g.39872345A>G | CA8535966 | ZPBP2 | c.482A>G (p.Asp161Gly) c.416A>G (p.Asp139Gly) c.128A>G (p.Asp43Gly) c.407-699A>G (n.407-699A>G) n.673A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872345A>T | CA399279604 | ZPBP2 | c.482A>T (p.Asp161Val) c.416A>T (p.Asp139Val) c.128A>T (p.Asp43Val) c.407-699A>T (n.407-699A>T) n.673A>T | |
17 | g.39872346T>A | CA399279605 | ZPBP2 | c.483T>A (p.Asp161Glu) c.417T>A (p.Asp139Glu) c.129T>A (p.Asp43Glu) c.407-698T>A (n.407-698T>A) n.674T>A | |
17 | g.39872346T>C | CA499931633 | ZPBP2 | c.483T>C (p.Asp161=) c.417T>C (p.Asp139=) c.129T>C (p.Asp43=) c.407-698T>C (n.407-698T>C) n.674T>C | gnomAD v4 |
17 | g.39872346T>G | CA399279607 | ZPBP2 | c.483T>G (p.Asp161Glu) c.417T>G (p.Asp139Glu) c.129T>G (p.Asp43Glu) c.407-698T>G (n.407-698T>G) n.674T>G | |
17 | g.39872347G>A | CA399279609 | ZPBP2 | c.484G>A (p.Val162Ile) c.418G>A (p.Val140Ile) c.130G>A (p.Val44Ile) c.407-697G>A (n.407-697G>A) n.675G>A | gnomAD v4 |
17 | g.39872347G>C | CA399279610 | ZPBP2 | c.484G>C (p.Val162Leu) c.418G>C (p.Val140Leu) c.130G>C (p.Val44Leu) c.407-697G>C (n.407-697G>C) n.675G>C | |
17 | g.39872347G>T | CA399279612 | ZPBP2 | c.484G>T (p.Val162Leu) c.418G>T (p.Val140Leu) c.130G>T (p.Val44Leu) c.407-697G>T (n.407-697G>T) n.675G>T | |
17 | g.39872348T>A | CA399279613 | ZPBP2 | c.485T>A (p.Val162Glu) c.419T>A (p.Val140Glu) c.131T>A (p.Val44Glu) c.407-696T>A (n.407-696T>A) n.676T>A | |
17 | g.39872348T>C | CA399279614 | ZPBP2 | c.485T>C (p.Val162Ala) c.419T>C (p.Val140Ala) c.131T>C (p.Val44Ala) c.407-696T>C (n.407-696T>C) n.676T>C | |
17 | g.39872348T>G | CA399279615 | ZPBP2 | c.485T>G (p.Val162Gly) c.419T>G (p.Val140Gly) c.131T>G (p.Val44Gly) c.407-696T>G (n.407-696T>G) n.676T>G | |
17 | g.39872349A>C | CA499931701 | ZPBP2 | c.486A>C (p.Val162=) c.420A>C (p.Val140=) c.132A>C (p.Val44=) c.407-695A>C (n.407-695A>C) n.677A>C | |
17 | g.39872349A>G | CA499931703 | ZPBP2 | c.486A>G (p.Val162=) c.420A>G (p.Val140=) c.132A>G (p.Val44=) c.407-695A>G (n.407-695A>G) n.677A>G | |
17 | g.39872349A>T | CA499931702 | ZPBP2 | c.486A>T (p.Val162=) c.420A>T (p.Val140=) c.132A>T (p.Val44=) c.407-695A>T (n.407-695A>T) n.677A>T | |
17 | g.39872350T>A | CA399279617 | ZPBP2 | c.487T>A (p.Phe163Ile) c.421T>A (p.Phe141Ile) c.133T>A (p.Phe45Ile) c.407-694T>A (n.407-694T>A) n.678T>A | |
17 | g.39872350T>C | CA399279619 | ZPBP2 | c.487T>C (p.Phe163Leu) c.421T>C (p.Phe141Leu) c.133T>C (p.Phe45Leu) c.407-694T>C (n.407-694T>C) n.678T>C | |
17 | g.39872350T>G | CA399279620 | ZPBP2 | c.487T>G (p.Phe163Val) c.421T>G (p.Phe141Val) c.133T>G (p.Phe45Val) c.407-694T>G (n.407-694T>G) n.678T>G | gnomAD v4 |
17 | g.39872351T>A | CA399279622 | ZPBP2 | c.488T>A (p.Phe163Tyr) c.422T>A (p.Phe141Tyr) c.134T>A (p.Phe45Tyr) c.407-693T>A (n.407-693T>A) n.679T>A | |
17 | g.39872351T>C | CA399279624 | ZPBP2 | c.488T>C (p.Phe163Ser) c.422T>C (p.Phe141Ser) c.134T>C (p.Phe45Ser) c.407-693T>C (n.407-693T>C) n.679T>C | |
17 | g.39872351T>G | CA399279625 | ZPBP2 | c.488T>G (p.Phe163Cys) c.422T>G (p.Phe141Cys) c.134T>G (p.Phe45Cys) c.407-693T>G (n.407-693T>G) n.679T>G | |
17 | g.39872352C>A | CA399279627 | ZPBP2 | c.489C>A (p.Phe163Leu) c.423C>A (p.Phe141Leu) c.135C>A (p.Phe45Leu) c.407-692C>A (n.407-692C>A) n.680C>A | |
17 | g.39872352C>G | CA399279628 | ZPBP2 | c.489C>G (p.Phe163Leu) c.423C>G (p.Phe141Leu) c.135C>G (p.Phe45Leu) c.407-692C>G (n.407-692C>G) n.680C>G | |
17 | g.39872352C>T | CA499931707 | ZPBP2 | c.489C>T (p.Phe163=) c.423C>T (p.Phe141=) c.135C>T (p.Phe45=) c.407-692C>T (n.407-692C>T) n.680C>T | |
17 | g.39872353T>A | CA399279634 | ZPBP2 | c.490T>A (p.Phe164Ile) c.424T>A (p.Phe142Ile) c.136T>A (p.Phe46Ile) c.407-691T>A (n.407-691T>A) n.681T>A | |
17 | g.39872353T>C | CA399279635 | ZPBP2 | c.490T>C (p.Phe164Leu) c.424T>C (p.Phe142Leu) c.136T>C (p.Phe46Leu) c.407-691T>C (n.407-691T>C) n.681T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872353T>G | CA399279636 | ZPBP2 | c.490T>G (p.Phe164Val) c.424T>G (p.Phe142Val) c.136T>G (p.Phe46Val) c.407-691T>G (n.407-691T>G) n.681T>G | |
17 | g.39872353T= | CA2259290869 | ZPBP2 | c.490T= (p.Phe164=) c.424T= (p.Phe142=) c.136T= (p.Phe46=) c.407-691T= (n.407-691T=) n.681T= | |
17 | g.39872354T>A | CA399279639 | ZPBP2 | c.491T>A (p.Phe164Tyr) c.425T>A (p.Phe142Tyr) c.137T>A (p.Phe46Tyr) c.407-690T>A (n.407-690T>A) n.682T>A | dbSNP |
17 | g.39872354T>C | CA399279643 | ZPBP2 | c.491T>C (p.Phe164Ser) c.425T>C (p.Phe142Ser) c.137T>C (p.Phe46Ser) c.407-690T>C (n.407-690T>C) n.682T>C | |
17 | g.39872354T>G | CA399279644 | ZPBP2 | c.491T>G (p.Phe164Cys) c.425T>G (p.Phe142Cys) c.137T>G (p.Phe46Cys) c.407-690T>G (n.407-690T>G) n.682T>G | |
17 | g.39872354T= | CA2259290870 | ZPBP2 | c.491T= (p.Phe164=) c.425T= (p.Phe142=) c.137T= (p.Phe46=) c.407-690T= (n.407-690T=) n.682T= | |
17 | g.39872355T>A | CA399279646 | ZPBP2 | c.492T>A (p.Phe164Leu) c.426T>A (p.Phe142Leu) c.138T>A (p.Phe46Leu) c.407-689T>A (n.407-689T>A) n.683T>A | |
17 | g.39872355T>C | CA8535967 | ZPBP2 | c.492T>C (p.Phe164=) c.426T>C (p.Phe142=) c.138T>C (p.Phe46=) c.407-689T>C (n.407-689T>C) n.683T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872355T>G | CA399279650 | ZPBP2 | c.492T>G (p.Phe164Leu) c.426T>G (p.Phe142Leu) c.138T>G (p.Phe46Leu) c.407-689T>G (n.407-689T>G) n.683T>G | |
17 | g.39872355T= | CA2259290871 | ZPBP2 | c.492T= (p.Phe164=) c.426T= (p.Phe142=) c.138T= (p.Phe46=) c.407-689T= (n.407-689T=) n.683T= | |
17 | g.39872356A>C | CA499931708 | ZPBP2 | c.493A>C (p.Arg165=) c.427A>C (p.Arg143=) c.139A>C (p.Arg47=) c.407-688A>C (n.407-688A>C) n.684A>C | |
17 | g.39872356A>G | CA399279652 | ZPBP2 | c.493A>G (p.Arg165Gly) c.427A>G (p.Arg143Gly) c.139A>G (p.Arg47Gly) c.407-688A>G (n.407-688A>G) n.684A>G | |
17 | g.39872356A>T | CA399279653 | ZPBP2 | c.493A>T (p.Arg165Ter) c.427A>T (p.Arg143Ter) c.139A>T (p.Arg47Ter) c.407-688A>T (n.407-688A>T) n.684A>T | |
17 | g.39872357G>A | CA399279656 | ZPBP2 | c.494G>A (p.Arg165Lys) c.428G>A (p.Arg143Lys) c.140G>A (p.Arg47Lys) c.407-687G>A (n.407-687G>A) n.685G>A | |
17 | g.39872357G>C | CA399279655 | ZPBP2 | c.494G>C (p.Arg165Thr) c.428G>C (p.Arg143Thr) c.140G>C (p.Arg47Thr) c.407-687G>C (n.407-687G>C) n.685G>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.39872357G= | CA2259290872 | ZPBP2 | c.494G= (p.Arg165=) c.428G= (p.Arg143=) c.140G= (p.Arg47=) c.407-687G= (n.407-687G=) n.685G= | |
17 | g.39872357G>T | CA399279654 | ZPBP2 | c.494G>T (p.Arg165Ile) c.428G>T (p.Arg143Ile) c.140G>T (p.Arg47Ile) c.407-687G>T (n.407-687G>T) n.685G>T | |
17 | g.39872358A>C | CA399279657 | ZPBP2 | c.495A>C (p.Arg165Ser) c.429A>C (p.Arg143Ser) c.141A>C (p.Arg47Ser) c.407-686A>C (n.407-686A>C) n.686A>C | |
17 | g.39872358A>G | CA499931709 | ZPBP2 | c.495A>G (p.Arg165=) c.429A>G (p.Arg143=) c.141A>G (p.Arg47=) c.407-686A>G (n.407-686A>G) n.686A>G | |
17 | g.39872358A>T | CA399279658 | ZPBP2 | c.495A>T (p.Arg165Ser) c.429A>T (p.Arg143Ser) c.141A>T (p.Arg47Ser) c.407-686A>T (n.407-686A>T) n.686A>T | |
17 | g.39872359G>A | CA399279659 | ZPBP2 | c.496G>A (p.Val166Met) c.430G>A (p.Val144Met) c.142G>A (p.Val48Met) c.407-685G>A (n.407-685G>A) n.687G>A | |
17 | g.39872359G>C | CA399279660 | ZPBP2 | c.496G>C (p.Val166Leu) c.430G>C (p.Val144Leu) c.142G>C (p.Val48Leu) c.407-685G>C (n.407-685G>C) n.687G>C | |
17 | g.39872359G>T | CA399279661 | ZPBP2 | c.496G>T (p.Val166Leu) c.430G>T (p.Val144Leu) c.142G>T (p.Val48Leu) c.407-685G>T (n.407-685G>T) n.687G>T | |
17 | g.39872360T>A | CA399279663 | ZPBP2 | c.497T>A (p.Val166Glu) c.431T>A (p.Val144Glu) c.143T>A (p.Val48Glu) c.407-684T>A (n.407-684T>A) n.688T>A | |
17 | g.39872360T>C | CA399279662 | ZPBP2 | c.497T>C (p.Val166Ala) c.431T>C (p.Val144Ala) c.143T>C (p.Val48Ala) c.407-684T>C (n.407-684T>C) n.688T>C | |
17 | g.39872360T>G | CA8535968 | ZPBP2 | c.497T>G (p.Val166Gly) c.431T>G (p.Val144Gly) c.143T>G (p.Val48Gly) c.407-684T>G (n.407-684T>G) n.688T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872360T= | CA2259290873 | ZPBP2 | c.497T= (p.Val166=) c.431T= (p.Val144=) c.143T= (p.Val48=) c.407-684T= (n.407-684T=) n.688T= | |
17 | g.39872361G>A | CA8535969 | ZPBP2 | c.498G>A (p.Val166=) c.432G>A (p.Val144=) c.144G>A (p.Val48=) c.407-683G>A (n.407-683G>A) n.689G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872361G>C | CA499931711 | ZPBP2 | c.498G>C (p.Val166=) c.432G>C (p.Val144=) c.144G>C (p.Val48=) c.407-683G>C (n.407-683G>C) n.689G>C | |
17 | g.39872361G= | CA2259290874 | ZPBP2 | c.498G= (p.Val166=) c.432G= (p.Val144=) c.144G= (p.Val48=) c.407-683G= (n.407-683G=) n.689G= | |
17 | g.39872361G>T | CA499931712 | ZPBP2 | c.498G>T (p.Val166=) c.432G>T (p.Val144=) c.144G>T (p.Val48=) c.407-683G>T (n.407-683G>T) n.689G>T | dbSNP |
17 | g.39872362C>A | CA399279666 | ZPBP2 | c.499C>A (p.Leu167Met) c.433C>A (p.Leu145Met) c.145C>A (p.Leu49Met) c.407-682C>A (n.407-682C>A) n.690C>A | |
17 | g.39872362C>G | CA399279669 | ZPBP2 | c.499C>G (p.Leu167Val) c.433C>G (p.Leu145Val) c.145C>G (p.Leu49Val) c.407-682C>G (n.407-682C>G) n.690C>G | |
17 | g.39872362C>T | CA499931713 | ZPBP2 | c.499C>T (p.Leu167=) c.433C>T (p.Leu145=) c.145C>T (p.Leu49=) c.407-682C>T (n.407-682C>T) n.690C>T | |
17 | g.39872363T>A | CA399279671 | ZPBP2 | c.500T>A (p.Leu167Gln) c.434T>A (p.Leu145Gln) c.146T>A (p.Leu49Gln) c.407-681T>A (n.407-681T>A) n.691T>A | |
17 | g.39872363T>C | CA399279674 | ZPBP2 | c.500T>C (p.Leu167Pro) c.434T>C (p.Leu145Pro) c.146T>C (p.Leu49Pro) c.407-681T>C (n.407-681T>C) n.691T>C | |
17 | g.39872363T>G | CA399279676 | ZPBP2 | c.500T>G (p.Leu167Arg) c.434T>G (p.Leu145Arg) c.146T>G (p.Leu49Arg) c.407-681T>G (n.407-681T>G) n.691T>G | dbSNP |
17 | g.39872364G>A | CA499931714 | ZPBP2 | c.501G>A (p.Leu167=) c.435G>A (p.Leu145=) c.147G>A (p.Leu49=) c.407-680G>A (n.407-680G>A) n.692G>A | dbSNP gnomAD v4 |
17 | g.39872364G>C | CA499931715 | ZPBP2 | c.501G>C (p.Leu167=) c.435G>C (p.Leu145=) c.147G>C (p.Leu49=) c.407-680G>C (n.407-680G>C) n.692G>C | |
17 | g.39872364G= | CA2259290875 | ZPBP2 | c.501G= (p.Leu167=) c.435G= (p.Leu145=) c.147G= (p.Leu49=) c.407-680G= (n.407-680G=) n.692G= | |
17 | g.39872364G>T | CA499931716 | ZPBP2 | c.501G>T (p.Leu167=) c.435G>T (p.Leu145=) c.147G>T (p.Leu49=) c.407-680G>T (n.407-680G>T) n.692G>T | |
17 | g.39872365A>C | CA399279677 | ZPBP2 | c.502A>C (p.Lys168Gln) c.436A>C (p.Lys146Gln) c.148A>C (p.Lys50Gln) c.407-679A>C (n.407-679A>C) n.693A>C | |
17 | g.39872365A>G | CA399279679 | ZPBP2 | c.502A>G (p.Lys168Glu) c.436A>G (p.Lys146Glu) c.148A>G (p.Lys50Glu) c.407-679A>G (n.407-679A>G) n.693A>G | |
17 | g.39872365A>T | CA399279678 | ZPBP2 | c.502A>T (p.Lys168Ter) c.436A>T (p.Lys146Ter) c.148A>T (p.Lys50Ter) c.407-679A>T (n.407-679A>T) n.693A>T | |
17 | g.39872366A= | CA2259290876 | ZPBP2 | c.503A= (p.Lys168=) c.437A= (p.Lys146=) c.149A= (p.Lys50=) c.407-678A= (n.407-678A=) n.694A= | |
17 | g.39872366A>C | CA399279680 | ZPBP2 | c.503A>C (p.Lys168Thr) c.437A>C (p.Lys146Thr) c.149A>C (p.Lys50Thr) c.407-678A>C (n.407-678A>C) n.694A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872366A>G | CA399279681 | ZPBP2 | c.503A>G (p.Lys168Arg) c.437A>G (p.Lys146Arg) c.149A>G (p.Lys50Arg) c.407-678A>G (n.407-678A>G) n.694A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872366A>T | CA399279683 | ZPBP2 | c.503A>T (p.Lys168Met) c.437A>T (p.Lys146Met) c.149A>T (p.Lys50Met) c.407-678A>T (n.407-678A>T) n.694A>T | |
17 | g.39872367G>A | CA499931717 | ZPBP2 | c.504G>A (p.Lys168=) c.438G>A (p.Lys146=) c.150G>A (p.Lys50=) c.407-677G>A (n.407-677G>A) n.695G>A | |
17 | g.39872367G>C | CA399279684 | ZPBP2 | c.504G>C (p.Lys168Asn) c.438G>C (p.Lys146Asn) c.150G>C (p.Lys50Asn) c.407-677G>C (n.407-677G>C) n.695G>C | |
17 | g.39872367G>T | CA399279686 | ZPBP2 | c.504G>T (p.Lys168Asn) c.438G>T (p.Lys146Asn) c.150G>T (p.Lys50Asn) c.407-677G>T (n.407-677G>T) n.695G>T | |
17 | g.39872368A>C | CA399279689 | ZPBP2 | c.505A>C (p.Lys169Gln) c.439A>C (p.Lys147Gln) c.151A>C (p.Lys51Gln) c.407-676A>C (n.407-676A>C) n.696A>C | gnomAD v4 |
17 | g.39872368A>G | CA399279693 | ZPBP2 | c.505A>G (p.Lys169Glu) c.439A>G (p.Lys147Glu) c.151A>G (p.Lys51Glu) c.407-676A>G (n.407-676A>G) n.696A>G | |
17 | g.39872368A>T | CA399279700 | ZPBP2 | c.505A>T (p.Lys169Ter) c.439A>T (p.Lys147Ter) c.151A>T (p.Lys51Ter) c.407-676A>T (n.407-676A>T) n.696A>T | |
17 | g.39872371dup | CA2841697867 | ZPBP2 | c.508dup (p.Ile170AsnfsTer4) c.442dup (p.Ile148AsnfsTer4) c.154dup (p.Ile52AsnfsTer4) c.407-673dup (n.407-673dup) n.699dup | |
17 | g.39872369A>C | CA399279704 | ZPBP2 | c.506A>C (p.Lys169Thr) c.440A>C (p.Lys147Thr) c.152A>C (p.Lys51Thr) c.407-675A>C (n.407-675A>C) n.697A>C | |
17 | g.39872369A>G | CA399279705 | ZPBP2 | c.506A>G (p.Lys169Arg) c.440A>G (p.Lys147Arg) c.152A>G (p.Lys51Arg) c.407-675A>G (n.407-675A>G) n.697A>G | |
17 | g.39872369A>T | CA399279706 | ZPBP2 | c.506A>T (p.Lys169Ile) c.440A>T (p.Lys147Ile) c.152A>T (p.Lys51Ile) c.407-675A>T (n.407-675A>T) n.697A>T | |
17 | g.39872370A>C | CA399279707 | ZPBP2 | c.507A>C (p.Lys169Asn) c.441A>C (p.Lys147Asn) c.153A>C (p.Lys51Asn) c.407-674A>C (n.407-674A>C) n.698A>C | |
17 | g.39872370A>G | CA499931718 | ZPBP2 | c.507A>G (p.Lys169=) c.441A>G (p.Lys147=) c.153A>G (p.Lys51=) c.407-674A>G (n.407-674A>G) n.698A>G | |
17 | g.39872370A>T | CA399279708 | ZPBP2 | c.507A>T (p.Lys169Asn) c.441A>T (p.Lys147Asn) c.153A>T (p.Lys51Asn) c.407-674A>T (n.407-674A>T) n.698A>T | |
17 | g.39872371A= | CA2259290877 | ZPBP2 | c.508A= (p.Ile170=) c.442A= (p.Ile148=) c.154A= (p.Ile52=) c.407-673A= (n.407-673A=) n.699A= | |
17 | g.39872371A>C | CA399279710 | ZPBP2 | c.508A>C (p.Ile170Leu) c.442A>C (p.Ile148Leu) c.154A>C (p.Ile52Leu) c.407-673A>C (n.407-673A>C) n.699A>C | |
17 | g.39872371A>G | CA399279718 | ZPBP2 | c.508A>G (p.Ile170Val) c.442A>G (p.Ile148Val) c.154A>G (p.Ile52Val) c.407-673A>G (n.407-673A>G) n.699A>G | dbSNP gnomAD v4 |
17 | g.39872371A>T | CA399279715 | ZPBP2 | c.508A>T (p.Ile170Phe) c.442A>T (p.Ile148Phe) c.154A>T (p.Ile52Phe) c.407-673A>T (n.407-673A>T) n.699A>T | |
17 | g.39872372T>A | CA399279719 | ZPBP2 | c.509T>A (p.Ile170Asn) c.443T>A (p.Ile148Asn) c.155T>A (p.Ile52Asn) c.407-672T>A (n.407-672T>A) n.700T>A | |
17 | g.39872372T>C | CA399279721 | ZPBP2 | c.509T>C (p.Ile170Thr) c.443T>C (p.Ile148Thr) c.155T>C (p.Ile52Thr) c.407-672T>C (n.407-672T>C) n.700T>C | |
17 | g.39872372T>G | CA399279723 | ZPBP2 | c.509T>G (p.Ile170Ser) c.443T>G (p.Ile148Ser) c.155T>G (p.Ile52Ser) c.407-672T>G (n.407-672T>G) n.700T>G | |
17 | g.39872373C>A | CA499931720 | ZPBP2 | c.510C>A (p.Ile170=) c.444C>A (p.Ile148=) c.156C>A (p.Ile52=) c.407-671C>A (n.407-671C>A) n.701C>A | |
17 | g.39872373C>G | CA399279726 | ZPBP2 | c.510C>G (p.Ile170Met) c.444C>G (p.Ile148Met) c.156C>G (p.Ile52Met) c.407-671C>G (n.407-671C>G) n.701C>G | |
17 | g.39872373C>T | CA499931719 | ZPBP2 | c.510C>T (p.Ile170=) c.444C>T (p.Ile148=) c.156C>T (p.Ile52=) c.407-671C>T (n.407-671C>T) n.701C>T | |
17 | g.39872374T>A | CA399279731 | ZPBP2 | c.511T>A (p.Leu171Met) c.445T>A (p.Leu149Met) c.157T>A (p.Leu53Met) c.407-670T>A (n.407-670T>A) n.702T>A | |
17 | g.39872374T>C | CA499931721 | ZPBP2 | c.511T>C (p.Leu171=) c.445T>C (p.Leu149=) c.157T>C (p.Leu53=) c.407-670T>C (n.407-670T>C) n.702T>C | |
17 | g.39872374T>G | CA399279733 | ZPBP2 | c.511T>G (p.Leu171Val) c.445T>G (p.Leu149Val) c.157T>G (p.Leu53Val) c.407-670T>G (n.407-670T>G) n.702T>G | gnomAD v4 |
17 | g.39872375T>A | CA399279736 | ZPBP2 | c.512T>A (p.Leu171Ter) c.446T>A (p.Leu149Ter) c.158T>A (p.Leu53Ter) c.407-669T>A (n.407-669T>A) n.703T>A | |
17 | g.39872375T>C | CA399279737 | ZPBP2 | c.512T>C (p.Leu171Ser) c.446T>C (p.Leu149Ser) c.158T>C (p.Leu53Ser) c.407-669T>C (n.407-669T>C) n.703T>C | |
17 | g.39872375T>G | CA399279743 | ZPBP2 | c.512T>G (p.Leu171Trp) c.446T>G (p.Leu149Trp) c.158T>G (p.Leu53Trp) c.407-669T>G (n.407-669T>G) n.703T>G | gnomAD v4 |
17 | g.39872376G>A | CA499931722 | ZPBP2 | c.513G>A (p.Leu171=) c.447G>A (p.Leu149=) c.159G>A (p.Leu53=) c.407-668G>A (n.407-668G>A) n.704G>A | |
17 | g.39872376G>C | CA399279746 | ZPBP2 | c.513G>C (p.Leu171Phe) c.447G>C (p.Leu149Phe) c.159G>C (p.Leu53Phe) c.407-668G>C (n.407-668G>C) n.704G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872376G= | CA2259290878 | ZPBP2 | c.513G= (p.Leu171=) c.447G= (p.Leu149=) c.159G= (p.Leu53=) c.407-668G= (n.407-668G=) n.704G= | |
17 | g.39872376G>T | CA399279747 | ZPBP2 | c.513G>T (p.Leu171Phe) c.447G>T (p.Leu149Phe) c.159G>T (p.Leu53Phe) c.407-668G>T (n.407-668G>T) n.704G>T | |
17 | g.39872377G>A | CA399279752 | ZPBP2 | c.514G>A (p.Asp172Asn) c.448G>A (p.Asp150Asn) c.160G>A (p.Asp54Asn) c.407-667G>A (n.407-667G>A) n.705G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872377G>C | CA399279751 | ZPBP2 | c.514G>C (p.Asp172His) c.448G>C (p.Asp150His) c.160G>C (p.Asp54His) c.407-667G>C (n.407-667G>C) n.705G>C | |
17 | g.39872377G= | CA2259290879 | ZPBP2 | c.514G= (p.Asp172=) c.448G= (p.Asp150=) c.160G= (p.Asp54=) c.407-667G= (n.407-667G=) n.705G= | |
17 | g.39872377G>T | CA399279748 | ZPBP2 | c.514G>T (p.Asp172Tyr) c.448G>T (p.Asp150Tyr) c.160G>T (p.Asp54Tyr) c.407-667G>T (n.407-667G>T) n.705G>T | |
17 | g.39872378A>C | CA399279755 | ZPBP2 | c.515A>C (p.Asp172Ala) c.449A>C (p.Asp150Ala) c.161A>C (p.Asp54Ala) c.407-666A>C (n.407-666A>C) n.706A>C | |
17 | g.39872378A>G | CA399279756 | ZPBP2 | c.515A>G (p.Asp172Gly) c.449A>G (p.Asp150Gly) c.161A>G (p.Asp54Gly) c.407-666A>G (n.407-666A>G) n.706A>G | |
17 | g.39872378A>T | CA399279757 | ZPBP2 | c.515A>T (p.Asp172Val) c.449A>T (p.Asp150Val) c.161A>T (p.Asp54Val) c.407-666A>T (n.407-666A>T) n.706A>T | |
17 | g.39872379T>A | CA399279758 | ZPBP2 | c.516T>A (p.Asp172Glu) c.450T>A (p.Asp150Glu) c.162T>A (p.Asp54Glu) c.407-665T>A (n.407-665T>A) n.707T>A | |
17 | g.39872379T>C | CA499931723 | ZPBP2 | c.516T>C (p.Asp172=) c.450T>C (p.Asp150=) c.162T>C (p.Asp54=) c.407-665T>C (n.407-665T>C) n.707T>C | |
17 | g.39872379T>G | CA399279759 | ZPBP2 | c.516T>G (p.Asp172Glu) c.450T>G (p.Asp150Glu) c.162T>G (p.Asp54Glu) c.407-665T>G (n.407-665T>G) n.707T>G | |
17 | g.39872379_39872380delinsTA | CA2259290880 | ZPBP2 | c.516_517delinsTA (p.Asp172=) c.450_451delinsTA (p.Asp150=) c.162_163delinsTA (p.Asp54=) c.407-665_407-664delinsTA (n.407-665_407-664delinsTA) n.707_708delinsTA | |
17 | g.39872380del | CA290455842 | ZPBP2 | c.517del (p.Ser173ValfsTer2) c.451del (p.Ser151ValfsTer2) c.163del (p.Ser55ValfsTer2) c.407-664del (n.407-664del) n.708del | dbSNP gnomAD v4 |
17 | g.39872380A= | CA2259290882 | ZPBP2 | c.517A= (p.Ser173=) c.451A= (p.Ser151=) c.163A= (p.Ser55=) c.407-664A= (n.407-664A=) n.708A= | |
17 | g.39872380A>C | CA399279763 | ZPBP2 | c.517A>C (p.Ser173Arg) c.451A>C (p.Ser151Arg) c.163A>C (p.Ser55Arg) c.407-664A>C (n.407-664A>C) n.708A>C | dbSNP gnomAD v4 |
17 | g.39872380A>G | CA399279764 | ZPBP2 | c.517A>G (p.Ser173Gly) c.451A>G (p.Ser151Gly) c.163A>G (p.Ser55Gly) c.407-664A>G (n.407-664A>G) n.708A>G | |
17 | g.39872380A>T | CA399279766 | ZPBP2 | c.517A>T (p.Ser173Cys) c.451A>T (p.Ser151Cys) c.163A>T (p.Ser55Cys) c.407-664A>T (n.407-664A>T) n.708A>T | |
17 | g.39872380_39872381delinsAG | CA2259290881 | ZPBP2 | c.517_518delinsAG (p.Ser173=) c.451_452delinsAG (p.Ser151=) c.163_164delinsAG (p.Ser55=) c.407-664_407-663delinsAG (n.407-664_407-663delinsAG) n.708_709delinsAG | |
17 | g.39872381del | CA771906275 | ZPBP2 | c.518del (p.Ser173IlefsTer2) c.452del (p.Ser151IlefsTer2) c.164del (p.Ser55IlefsTer2) c.407-663del (n.407-663del) n.709del | dbSNP |
17 | g.39872381G>A | CA399279772 | ZPBP2 | c.518G>A (p.Ser173Asn) c.452G>A (p.Ser151Asn) c.164G>A (p.Ser55Asn) c.407-663G>A (n.407-663G>A) n.709G>A | |
17 | g.39872381G>C | CA399279773 | ZPBP2 | c.518G>C (p.Ser173Thr) c.452G>C (p.Ser151Thr) c.164G>C (p.Ser55Thr) c.407-663G>C (n.407-663G>C) n.709G>C | |
17 | g.39872381G= | CA2259290883 | ZPBP2 | c.518G= (p.Ser173=) c.452G= (p.Ser151=) c.164G= (p.Ser55=) c.407-663G= (n.407-663G=) n.709G= | |
17 | g.39872381G>T | CA8535970 | ZPBP2 | c.518G>T (p.Ser173Ile) c.452G>T (p.Ser151Ile) c.164G>T (p.Ser55Ile) c.407-663G>T (n.407-663G>T) n.709G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872381_39872382delinsGT | CA2259290884 | ZPBP2 | c.518_519delinsGT (p.Ser173=) c.452_453delinsGT (p.Ser151=) c.164_165delinsGT (p.Ser55=) c.407-663_407-662delinsGT (n.407-663_407-662delinsGT) n.709_710delinsGT | |
17 | g.39872381_39872382delinsTC | CA290455854 | ZPBP2 | c.518_519delinsTC (p.Ser173Ile) c.452_453delinsTC (p.Ser151Ile) c.164_165delinsTC (p.Ser55Ile) c.407-663_407-662delinsTC (n.407-663_407-662delinsTC) n.709_710delinsTC | dbSNP |
17 | g.39872382T>A | CA399279778 | ZPBP2 | c.519T>A (p.Ser173Arg) c.453T>A (p.Ser151Arg) c.165T>A (p.Ser55Arg) c.407-662T>A (n.407-662T>A) n.710T>A | |
17 | g.39872382T>C | CA8535971 | ZPBP2 | c.519T>C (p.Ser173=) c.453T>C (p.Ser151=) c.165T>C (p.Ser55=) c.407-662T>C (n.407-662T>C) n.710T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872382T>G | CA399279776 | ZPBP2 | c.519T>G (p.Ser173Arg) c.453T>G (p.Ser151Arg) c.165T>G (p.Ser55Arg) c.407-662T>G (n.407-662T>G) n.710T>G | |
17 | g.39872382T= | CA2259290885 | ZPBP2 | c.519T= (p.Ser173=) c.453T= (p.Ser151=) c.165T= (p.Ser55=) c.407-662T= (n.407-662T=) n.710T= | |
17 | g.39872383C>A | CA399279783 | ZPBP2 | c.520C>A (p.Leu174Ile) c.454C>A (p.Leu152Ile) c.166C>A (p.Leu56Ile) c.407-661C>A (n.407-661C>A) n.711C>A | gnomAD v4 |
17 | g.39872383C= | CA2259290886 | ZPBP2 | c.520C= (p.Leu174=) c.454C= (p.Leu152=) c.166C= (p.Leu56=) c.407-661C= (n.407-661C=) n.711C= | |
17 | g.39872383C>G | CA399279784 | ZPBP2 | c.520C>G (p.Leu174Val) c.454C>G (p.Leu152Val) c.166C>G (p.Leu56Val) c.407-661C>G (n.407-661C>G) n.711C>G | |
17 | g.39872383C>T | CA8535972 | ZPBP2 | c.520C>T (p.Leu174=) c.454C>T (p.Leu152=) c.166C>T (p.Leu56=) c.407-661C>T (n.407-661C>T) n.711C>T | dbSNP ExAC gnomAD v2 |
17 | g.39872384T>A | CA399279788 | ZPBP2 | c.521T>A (p.Leu174Gln) c.455T>A (p.Leu152Gln) c.167T>A (p.Leu56Gln) c.407-660T>A (n.407-660T>A) n.712T>A | |
17 | g.39872384T>C | CA399279789 | ZPBP2 | c.521T>C (p.Leu174Pro) c.455T>C (p.Leu152Pro) c.167T>C (p.Leu56Pro) c.407-660T>C (n.407-660T>C) n.712T>C | |
17 | g.39872384T>G | CA399279792 | ZPBP2 | c.521T>G (p.Leu174Arg) c.455T>G (p.Leu152Arg) c.167T>G (p.Leu56Arg) c.407-660T>G (n.407-660T>G) n.712T>G | gnomAD v4 |
17 | g.39872384dup | CA8535973 | ZPBP2 | c.521dup (p.Ile175AsnfsTer3) c.455dup (p.Ile153AsnfsTer3) c.167dup (p.Ile57AsnfsTer3) c.407-660dup (n.407-660dup) n.712dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872385A= | CA2259290887 | ZPBP2 | c.522A= (p.Leu174=) c.456A= (p.Leu152=) c.168A= (p.Leu56=) c.407-659A= (n.407-659A=) n.713A= | |
17 | g.39872385A>C | CA290455880 | ZPBP2 | c.522A>C (p.Leu174=) c.456A>C (p.Leu152=) c.168A>C (p.Leu56=) c.407-659A>C (n.407-659A>C) n.713A>C | dbSNP gnomAD v4 |
17 | g.39872385A>G | CA499931724 | ZPBP2 | c.522A>G (p.Leu174=) c.456A>G (p.Leu152=) c.168A>G (p.Leu56=) c.407-659A>G (n.407-659A>G) n.713A>G | |
17 | g.39872385A>T | CA499931725 | ZPBP2 | c.522A>T (p.Leu174=) c.456A>T (p.Leu152=) c.168A>T (p.Leu56=) c.407-659A>T (n.407-659A>T) n.713A>T | |
17 | g.39872386A= | CA2259290888 | ZPBP2 | c.523A= (p.Ile175=) c.457A= (p.Ile153=) c.169A= (p.Ile57=) c.407-658A= (n.407-658A=) n.714A= | |
17 | g.39872386A>C | CA8535974 | ZPBP2 | c.523A>C (p.Ile175Leu) c.457A>C (p.Ile153Leu) c.169A>C (p.Ile57Leu) c.407-658A>C (n.407-658A>C) n.714A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872386A>G | CA399279794 | ZPBP2 | c.523A>G (p.Ile175Val) c.457A>G (p.Ile153Val) c.169A>G (p.Ile57Val) c.407-658A>G (n.407-658A>G) n.714A>G | |
17 | g.39872386A>T | CA399279796 | ZPBP2 | c.523A>T (p.Ile175Phe) c.457A>T (p.Ile153Phe) c.169A>T (p.Ile57Phe) c.407-658A>T (n.407-658A>T) n.714A>T | |
17 | g.39872386_39872387delinsAT | CA2259290889 | ZPBP2 | c.523_524delinsAT (p.Ile175=) c.457_458delinsAT (p.Ile153=) c.169_170delinsAT (p.Ile57=) c.407-658_407-657delinsAT (n.407-658_407-657delinsAT) n.714_715delinsAT | |
17 | g.39872387T>A | CA399279799 | ZPBP2 | c.524T>A (p.Ile175Asn) c.458T>A (p.Ile153Asn) c.170T>A (p.Ile57Asn) c.407-657T>A (n.407-657T>A) n.715T>A | |
17 | g.39872387T>C | CA399279802 | ZPBP2 | c.524T>C (p.Ile175Thr) c.458T>C (p.Ile153Thr) c.170T>C (p.Ile57Thr) c.407-657T>C (n.407-657T>C) n.715T>C | |
17 | g.39872387T>G | CA399279803 | ZPBP2 | c.524T>G (p.Ile175Ser) c.458T>G (p.Ile153Ser) c.170T>G (p.Ile57Ser) c.407-657T>G (n.407-657T>G) n.715T>G | |
17 | g.39872389del | CA8535975 | ZPBP2 | c.526del (p.Ser176LeufsTer8) c.460del (p.Ser154LeufsTer8) c.172del (p.Ser58LeufsTer8) c.407-655del (n.407-655del) n.717del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872388T>A | CA499931726 | ZPBP2 | c.525T>A (p.Ile175=) c.459T>A (p.Ile153=) c.171T>A (p.Ile57=) c.407-656T>A (n.407-656T>A) n.716T>A | |
17 | g.39872388T>C | CA499931727 | ZPBP2 | c.525T>C (p.Ile175=) c.459T>C (p.Ile153=) c.171T>C (p.Ile57=) c.407-656T>C (n.407-656T>C) n.716T>C | |
17 | g.39872388T>G | CA399279807 | ZPBP2 | c.525T>G (p.Ile175Met) c.459T>G (p.Ile153Met) c.171T>G (p.Ile57Met) c.407-656T>G (n.407-656T>G) n.716T>G | |
17 | g.39872389T>A | CA399279809 | ZPBP2 | c.526T>A (p.Ser176Thr) c.460T>A (p.Ser154Thr) c.172T>A (p.Ser58Thr) c.407-655T>A (n.407-655T>A) n.717T>A | |
17 | g.39872389T>C | CA399279810 | ZPBP2 | c.526T>C (p.Ser176Pro) c.460T>C (p.Ser154Pro) c.172T>C (p.Ser58Pro) c.407-655T>C (n.407-655T>C) n.717T>C | gnomAD v4 |
17 | g.39872389T>G | CA399279811 | ZPBP2 | c.526T>G (p.Ser176Ala) c.460T>G (p.Ser154Ala) c.172T>G (p.Ser58Ala) c.407-655T>G (n.407-655T>G) n.717T>G | |
17 | g.39872390C>A | CA399279812 | ZPBP2 | c.527C>A (p.Ser176Tyr) c.461C>A (p.Ser154Tyr) c.173C>A (p.Ser58Tyr) c.407-654C>A (n.407-654C>A) n.718C>A | |
17 | g.39872390C>G | CA399279813 | ZPBP2 | c.527C>G (p.Ser176Cys) c.461C>G (p.Ser154Cys) c.173C>G (p.Ser58Cys) c.407-654C>G (n.407-654C>G) n.718C>G | |
17 | g.39872390C>T | CA399279815 | ZPBP2 | c.527C>T (p.Ser176Phe) c.461C>T (p.Ser154Phe) c.173C>T (p.Ser58Phe) c.407-654C>T (n.407-654C>T) n.718C>T | |
17 | g.39872391T>A | CA499931728 | ZPBP2 | c.528T>A (p.Ser176=) c.462T>A (p.Ser154=) c.174T>A (p.Ser58=) c.407-653T>A (n.407-653T>A) n.719T>A | |
17 | g.39872391T>C | CA499931730 | ZPBP2 | c.528T>C (p.Ser176=) c.462T>C (p.Ser154=) c.174T>C (p.Ser58=) c.407-653T>C (n.407-653T>C) n.719T>C | |
17 | g.39872391T>G | CA499931729 | ZPBP2 | c.528T>G (p.Ser176=) c.462T>G (p.Ser154=) c.174T>G (p.Ser58=) c.407-653T>G (n.407-653T>G) n.719T>G | |
17 | g.39872392G>A | CA399279817 | ZPBP2 | c.529G>A (p.Asp177Asn) c.463G>A (p.Asp155Asn) c.175G>A (p.Asp59Asn) c.407-652G>A (n.407-652G>A) n.720G>A | |
17 | g.39872392G>C | CA399279819 | ZPBP2 | c.529G>C (p.Asp177His) c.463G>C (p.Asp155His) c.175G>C (p.Asp59His) c.407-652G>C (n.407-652G>C) n.720G>C | |
17 | g.39872392G>T | CA399279820 | ZPBP2 | c.529G>T (p.Asp177Tyr) c.463G>T (p.Asp155Tyr) c.175G>T (p.Asp59Tyr) c.407-652G>T (n.407-652G>T) n.720G>T | |
17 | g.39872393A>C | CA399279821 | ZPBP2 | c.530A>C (p.Asp177Ala) c.464A>C (p.Asp155Ala) c.176A>C (p.Asp59Ala) c.407-651A>C (n.407-651A>C) n.721A>C | |
17 | g.39872393A>G | CA399279822 | ZPBP2 | c.530A>G (p.Asp177Gly) c.464A>G (p.Asp155Gly) c.176A>G (p.Asp59Gly) c.407-651A>G (n.407-651A>G) n.721A>G | |
17 | g.39872393A>T | CA399279824 | ZPBP2 | c.530A>T (p.Asp177Val) c.464A>T (p.Asp155Val) c.176A>T (p.Asp59Val) c.407-651A>T (n.407-651A>T) n.721A>T | |
17 | g.39872394T>A | CA399279825 | ZPBP2 | c.531T>A (p.Asp177Glu) c.465T>A (p.Asp155Glu) c.177T>A (p.Asp59Glu) c.407-650T>A (n.407-650T>A) n.722T>A | |
17 | g.39872394T>C | CA499931731 | ZPBP2 | c.531T>C (p.Asp177=) c.465T>C (p.Asp155=) c.177T>C (p.Asp59=) c.407-650T>C (n.407-650T>C) n.722T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872394T>G | CA399279828 | ZPBP2 | c.531T>G (p.Asp177Glu) c.465T>G (p.Asp155Glu) c.177T>G (p.Asp59Glu) c.407-650T>G (n.407-650T>G) n.722T>G | |
17 | g.39872394T= | CA2259290890 | ZPBP2 | c.531T= (p.Asp177=) c.465T= (p.Asp155=) c.177T= (p.Asp59=) c.407-650T= (n.407-650T=) n.722T= | |
17 | g.39872395T>A | CA399279834 | ZPBP2 | c.532T>A (p.Leu178Met) c.466T>A (p.Leu156Met) c.178T>A (p.Leu60Met) c.407-649T>A (n.407-649T>A) n.723T>A | |
17 | g.39872395T>C | CA499931732 | ZPBP2 | c.532T>C (p.Leu178=) c.466T>C (p.Leu156=) c.178T>C (p.Leu60=) c.407-649T>C (n.407-649T>C) n.723T>C | |
17 | g.39872395T>G | CA399279831 | ZPBP2 | c.532T>G (p.Leu178Val) c.466T>G (p.Leu156Val) c.178T>G (p.Leu60Val) c.407-649T>G (n.407-649T>G) n.723T>G | |
17 | g.39872396T>A | CA399279837 | ZPBP2 | c.533T>A (p.Leu178Ter) c.467T>A (p.Leu156Ter) c.179T>A (p.Leu60Ter) c.407-648T>A (n.407-648T>A) n.724T>A | |
17 | g.39872396T>C | CA399279842 | ZPBP2 | c.533T>C (p.Leu178Ser) c.467T>C (p.Leu156Ser) c.179T>C (p.Leu60Ser) c.407-648T>C (n.407-648T>C) n.724T>C | |
17 | g.39872396T>G | CA399279839 | ZPBP2 | c.533T>G (p.Leu178Trp) c.467T>G (p.Leu156Trp) c.179T>G (p.Leu60Trp) c.407-648T>G (n.407-648T>G) n.724T>G | |
17 | g.39872397G>A | CA499931733 | ZPBP2 | c.534G>A (p.Leu178=) c.468G>A (p.Leu156=) c.180G>A (p.Leu60=) c.407-647G>A (n.407-647G>A) n.725G>A | |
17 | g.39872397G>C | CA399279848 | ZPBP2 | c.534G>C (p.Leu178Phe) c.468G>C (p.Leu156Phe) c.180G>C (p.Leu60Phe) c.407-647G>C (n.407-647G>C) n.725G>C | |
17 | g.39872397G>T | CA399279851 | ZPBP2 | c.534G>T (p.Leu178Phe) c.468G>T (p.Leu156Phe) c.180G>T (p.Leu60Phe) c.407-647G>T (n.407-647G>T) n.725G>T | COSMIC |
17 | g.39872398T>A | CA399279859 | ZPBP2 | c.535T>A (p.Ser179Thr) c.469T>A (p.Ser157Thr) c.181T>A (p.Ser61Thr) c.407-646T>A (n.407-646T>A) n.726T>A | |
17 | g.39872398T>C | CA399279861 | ZPBP2 | c.535T>C (p.Ser179Pro) c.469T>C (p.Ser157Pro) c.181T>C (p.Ser61Pro) c.407-646T>C (n.407-646T>C) n.726T>C | |
17 | g.39872398T>G | CA399279864 | ZPBP2 | c.535T>G (p.Ser179Ala) c.469T>G (p.Ser157Ala) c.181T>G (p.Ser61Ala) c.407-646T>G (n.407-646T>G) n.726T>G | |
17 | g.39872399C>A | CA399279867 | ZPBP2 | c.536C>A (p.Ser179Ter) c.470C>A (p.Ser157Ter) c.182C>A (p.Ser61Ter) c.407-645C>A (n.407-645C>A) n.727C>A | |
17 | g.39872399C>G | CA399279869 | ZPBP2 | c.536C>G (p.Ser179Ter) c.470C>G (p.Ser157Ter) c.182C>G (p.Ser61Ter) c.407-645C>G (n.407-645C>G) n.727C>G | |
17 | g.39872399C>T | CA399279872 | ZPBP2 | c.536C>T (p.Ser179Leu) c.470C>T (p.Ser157Leu) c.182C>T (p.Ser61Leu) c.407-645C>T (n.407-645C>T) n.727C>T | |
17 | g.39872400A= | CA2259290891 | ZPBP2 | c.537A= (p.Ser179=) c.471A= (p.Ser157=) c.183A= (p.Ser61=) c.407-644A= (n.407-644A=) n.728A= | |
17 | g.39872400A>C | CA499931734 | ZPBP2 | c.537A>C (p.Ser179=) c.471A>C (p.Ser157=) c.183A>C (p.Ser61=) c.407-644A>C (n.407-644A>C) n.728A>C | |
17 | g.39872400A>G | CA499931735 | ZPBP2 | c.537A>G (p.Ser179=) c.471A>G (p.Ser157=) c.183A>G (p.Ser61=) c.407-644A>G (n.407-644A>G) n.728A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.39872400A>T | CA499931736 | ZPBP2 | c.537A>T (p.Ser179=) c.471A>T (p.Ser157=) c.183A>T (p.Ser61=) c.407-644A>T (n.407-644A>T) n.728A>T | |
17 | g.39872401T>A | CA399279876 | ZPBP2 | c.538T>A (p.Cys180Ser) c.472T>A (p.Cys158Ser) c.184T>A (p.Cys62Ser) c.407-643T>A (n.407-643T>A) n.729T>A | |
17 | g.39872401T>C | CA399279878 | ZPBP2 | c.538T>C (p.Cys180Arg) c.472T>C (p.Cys158Arg) c.184T>C (p.Cys62Arg) c.407-643T>C (n.407-643T>C) n.729T>C | dbSNP gnomAD v4 |
17 | g.39872401T>G | CA399279881 | ZPBP2 | c.538T>G (p.Cys180Gly) c.472T>G (p.Cys158Gly) c.184T>G (p.Cys62Gly) c.407-643T>G (n.407-643T>G) n.729T>G | |
17 | g.39872401T= | CA2259290893 | ZPBP2 | c.538T= (p.Cys180=) c.472T= (p.Cys158=) c.184T= (p.Cys62=) c.407-643T= (n.407-643T=) n.729T= | |
17 | g.39872401_39872402delinsTG | CA2259290892 | ZPBP2 | c.538_539delinsTG (p.Cys180=) c.472_473delinsTG (p.Cys158=) c.184_185delinsTG (p.Cys62=) c.407-643_407-642delinsTG (n.407-643_407-642delinsTG) n.729_730delinsTG | |
17 | g.39872402del | CA8535976 | ZPBP2 | c.539del (p.Cys180SerfsTer4) c.473del (p.Cys158SerfsTer4) c.185del (p.Cys62SerfsTer4) c.407-642del (n.407-642del) n.730del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872402G>A | CA8535977 | ZPBP2 | c.539G>A (p.Cys180Tyr) c.473G>A (p.Cys158Tyr) c.185G>A (p.Cys62Tyr) c.407-642G>A (n.407-642G>A) n.730G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872402G>C | CA399279884 | ZPBP2 | c.539G>C (p.Cys180Ser) c.473G>C (p.Cys158Ser) c.185G>C (p.Cys62Ser) c.407-642G>C (n.407-642G>C) n.730G>C | |
17 | g.39872402G= | CA2259290894 | ZPBP2 | c.539G= (p.Cys180=) c.473G= (p.Cys158=) c.185G= (p.Cys62=) c.407-642G= (n.407-642G=) n.730G= | |
17 | g.39872402G>T | CA399279886 | ZPBP2 | c.539G>T (p.Cys180Phe) c.473G>T (p.Cys158Phe) c.185G>T (p.Cys62Phe) c.407-642G>T (n.407-642G>T) n.730G>T | dbSNP |
17 | g.39872407_39872419del | CA2637649650 | ZPBP2 | c.544_556del (p.Val182HisfsTer20) c.478_490del (p.Val160HisfsTer20) c.190_202del (p.Val64HisfsTer20) c.407-637_407-625del (n.407-637_407-625del) n.735_747del | gnomAD v4 |
17 | g.39872403C>A | CA399279888 | ZPBP2 | c.540C>A (p.Cys180Ter) c.474C>A (p.Cys158Ter) c.186C>A (p.Cys62Ter) c.407-641C>A (n.407-641C>A) n.731C>A | |
17 | g.39872403C>G | CA399279891 | ZPBP2 | c.540C>G (p.Cys180Trp) c.474C>G (p.Cys158Trp) c.186C>G (p.Cys62Trp) c.407-641C>G (n.407-641C>G) n.731C>G | |
17 | g.39872403C>T | CA499931737 | ZPBP2 | c.540C>T (p.Cys180=) c.474C>T (p.Cys158=) c.186C>T (p.Cys62=) c.407-641C>T (n.407-641C>T) n.731C>T | COSMIC |
17 | g.39872404C>A | CA399279894 | ZPBP2 | c.541C>A (p.His181Asn) c.475C>A (p.His159Asn) c.187C>A (p.His63Asn) c.407-640C>A (n.407-640C>A) n.732C>A | |
17 | g.39872404C>G | CA399279897 | ZPBP2 | c.541C>G (p.His181Asp) c.475C>G (p.His159Asp) c.187C>G (p.His63Asp) c.407-640C>G (n.407-640C>G) n.732C>G | gnomAD v4 |
17 | g.39872404C>T | CA399279899 | ZPBP2 | c.541C>T (p.His181Tyr) c.475C>T (p.His159Tyr) c.187C>T (p.His63Tyr) c.407-640C>T (n.407-640C>T) n.732C>T | |
17 | g.39872405A= | CA2259290895 | ZPBP2 | c.542A= (p.His181=) c.476A= (p.His159=) c.188A= (p.His63=) c.407-639A= (n.407-639A=) n.733A= | |
17 | g.39872405A>C | CA399279903 | ZPBP2 | c.542A>C (p.His181Pro) c.476A>C (p.His159Pro) c.188A>C (p.His63Pro) c.407-639A>C (n.407-639A>C) n.733A>C | |
17 | g.39872405A>G | CA399279905 | ZPBP2 | c.542A>G (p.His181Arg) c.476A>G (p.His159Arg) c.188A>G (p.His63Arg) c.407-639A>G (n.407-639A>G) n.733A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872405A>T | CA399279908 | ZPBP2 | c.542A>T (p.His181Leu) c.476A>T (p.His159Leu) c.188A>T (p.His63Leu) c.407-639A>T (n.407-639A>T) n.733A>T | |
17 | g.39872406T>A | CA399279910 | ZPBP2 | c.543T>A (p.His181Gln) c.477T>A (p.His159Gln) c.189T>A (p.His63Gln) c.407-638T>A (n.407-638T>A) n.734T>A | |
17 | g.39872406T>C | CA499931738 | ZPBP2 | c.543T>C (p.His181=) c.477T>C (p.His159=) c.189T>C (p.His63=) c.407-638T>C (n.407-638T>C) n.734T>C | dbSNP gnomAD v2 |
17 | g.39872406T>G | CA399279912 | ZPBP2 | c.543T>G (p.His181Gln) c.477T>G (p.His159Gln) c.189T>G (p.His63Gln) c.407-638T>G (n.407-638T>G) n.734T>G | |
17 | g.39872406T= | CA2259290896 | ZPBP2 | c.543T= (p.His181=) c.477T= (p.His159=) c.189T= (p.His63=) c.407-638T= (n.407-638T=) n.734T= | |
17 | g.39872407G>A | CA399279920 | ZPBP2 | c.544G>A (p.Val182Ile) c.478G>A (p.Val160Ile) c.190G>A (p.Val64Ile) c.407-637G>A (n.407-637G>A) n.735G>A | |
17 | g.39872407G>C | CA399279922 | ZPBP2 | c.544G>C (p.Val182Leu) c.478G>C (p.Val160Leu) c.190G>C (p.Val64Leu) c.407-637G>C (n.407-637G>C) n.735G>C | |
17 | g.39872407G>T | CA399279924 | ZPBP2 | c.544G>T (p.Val182Phe) c.478G>T (p.Val160Phe) c.190G>T (p.Val64Phe) c.407-637G>T (n.407-637G>T) n.735G>T | |
17 | g.39872408T>A | CA399279931 | ZPBP2 | c.545T>A (p.Val182Asp) c.479T>A (p.Val160Asp) c.191T>A (p.Val64Asp) c.407-636T>A (n.407-636T>A) n.736T>A | |
17 | g.39872408T>C | CA399279929 | ZPBP2 | c.545T>C (p.Val182Ala) c.479T>C (p.Val160Ala) c.191T>C (p.Val64Ala) c.407-636T>C (n.407-636T>C) n.736T>C | |
17 | g.39872408T>G | CA399279926 | ZPBP2 | c.545T>G (p.Val182Gly) c.479T>G (p.Val160Gly) c.191T>G (p.Val64Gly) c.407-636T>G (n.407-636T>G) n.736T>G | |
17 | g.39872409C>A | CA499931739 | ZPBP2 | c.546C>A (p.Val182=) c.480C>A (p.Val160=) c.192C>A (p.Val64=) c.407-635C>A (n.407-635C>A) n.737C>A | |
17 | g.39872409C= | CA2259290897 | ZPBP2 | c.546C= (p.Val182=) c.480C= (p.Val160=) c.192C= (p.Val64=) c.407-635C= (n.407-635C=) n.737C= | |
17 | g.39872409C>G | CA499931740 | ZPBP2 | c.546C>G (p.Val182=) c.480C>G (p.Val160=) c.192C>G (p.Val64=) c.407-635C>G (n.407-635C>G) n.737C>G | dbSNP gnomAD v4 |
17 | g.39872409C>T | CA499931741 | ZPBP2 | c.546C>T (p.Val182=) c.480C>T (p.Val160=) c.192C>T (p.Val64=) c.407-635C>T (n.407-635C>T) n.737C>T | |
17 | g.39872410A>C | CA399279933 | ZPBP2 | c.547A>C (p.Ile183Leu) c.481A>C (p.Ile161Leu) c.193A>C (p.Ile65Leu) c.407-634A>C (n.407-634A>C) n.738A>C | |
17 | g.39872410A>G | CA399279935 | ZPBP2 | c.547A>G (p.Ile183Val) c.481A>G (p.Ile161Val) c.193A>G (p.Ile65Val) c.407-634A>G (n.407-634A>G) n.738A>G | gnomAD v4 |
17 | g.39872410A>T | CA399279938 | ZPBP2 | c.547A>T (p.Ile183Leu) c.481A>T (p.Ile161Leu) c.193A>T (p.Ile65Leu) c.407-634A>T (n.407-634A>T) n.738A>T | |
17 | g.39872411T>A | CA399279940 | ZPBP2 | c.548T>A (p.Ile183Lys) c.482T>A (p.Ile161Lys) c.194T>A (p.Ile65Lys) c.407-633T>A (n.407-633T>A) n.739T>A | |
17 | g.39872411T>C | CA399279942 | ZPBP2 | c.548T>C (p.Ile183Thr) c.482T>C (p.Ile161Thr) c.194T>C (p.Ile65Thr) c.407-633T>C (n.407-633T>C) n.739T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872411T>G | CA399279944 | ZPBP2 | c.548T>G (p.Ile183Arg) c.482T>G (p.Ile161Arg) c.194T>G (p.Ile65Arg) c.407-633T>G (n.407-633T>G) n.739T>G | |
17 | g.39872411T= | CA2259290898 | ZPBP2 | c.548T= (p.Ile183=) c.482T= (p.Ile161=) c.194T= (p.Ile65=) c.407-633T= (n.407-633T=) n.739T= | |
17 | g.39872412A>C | CA499931742 | ZPBP2 | c.549A>C (p.Ile183=) c.483A>C (p.Ile161=) c.195A>C (p.Ile65=) c.407-632A>C (n.407-632A>C) n.740A>C | |
17 | g.39872412A>G | CA399279947 | ZPBP2 | c.549A>G (p.Ile183Met) c.483A>G (p.Ile161Met) c.195A>G (p.Ile65Met) c.407-632A>G (n.407-632A>G) n.740A>G | |
17 | g.39872412A>T | CA499931743 | ZPBP2 | c.549A>T (p.Ile183=) c.483A>T (p.Ile161=) c.195A>T (p.Ile65=) c.407-632A>T (n.407-632A>T) n.740A>T | |
17 | g.39872413G>A | CA399279950 | ZPBP2 | c.550G>A (p.Glu184Lys) c.484G>A (p.Glu162Lys) c.196G>A (p.Glu66Lys) c.407-631G>A (n.407-631G>A) n.741G>A | |
17 | g.39872413G>C | CA399279951 | ZPBP2 | c.550G>C (p.Glu184Gln) c.484G>C (p.Glu162Gln) c.196G>C (p.Glu66Gln) c.407-631G>C (n.407-631G>C) n.741G>C | gnomAD v4 |
17 | g.39872413G>T | CA399279952 | ZPBP2 | c.550G>T (p.Glu184Ter) c.484G>T (p.Glu162Ter) c.196G>T (p.Glu66Ter) c.407-631G>T (n.407-631G>T) n.741G>T | |
17 | g.39872414A>C | CA399279953 | ZPBP2 | c.551A>C (p.Glu184Ala) c.485A>C (p.Glu162Ala) c.197A>C (p.Glu66Ala) c.407-630A>C (n.407-630A>C) n.742A>C | |
17 | g.39872414A>G | CA399279954 | ZPBP2 | c.551A>G (p.Glu184Gly) c.485A>G (p.Glu162Gly) c.197A>G (p.Glu66Gly) c.407-630A>G (n.407-630A>G) n.742A>G | |
17 | g.39872414A>T | CA399279956 | ZPBP2 | c.551A>T (p.Glu184Val) c.485A>T (p.Glu162Val) c.197A>T (p.Glu66Val) c.407-630A>T (n.407-630A>T) n.742A>T | |
17 | g.39872415G>A | CA499931745 | ZPBP2 | c.552G>A (p.Glu184=) c.486G>A (p.Glu162=) c.198G>A (p.Glu66=) c.407-629G>A (n.407-629G>A) n.743G>A | gnomAD v4 |
17 | g.39872415G>C | CA399279958 | ZPBP2 | c.552G>C (p.Glu184Asp) c.486G>C (p.Glu162Asp) c.198G>C (p.Glu66Asp) c.407-629G>C (n.407-629G>C) n.743G>C | |
17 | g.39872415G= | CA2259290899 | ZPBP2 | c.552G= (p.Glu184=) c.486G= (p.Glu162=) c.198G= (p.Glu66=) c.407-629G= (n.407-629G=) n.743G= | |
17 | g.39872415G>T | CA399279962 | ZPBP2 | c.552G>T (p.Glu184Asp) c.486G>T (p.Glu162Asp) c.198G>T (p.Glu66Asp) c.407-629G>T (n.407-629G>T) n.743G>T | dbSNP gnomAD v4 |
17 | g.39872416C>A | CA399279963 | ZPBP2 | c.553C>A (p.Pro185Thr) c.487C>A (p.Pro163Thr) c.199C>A (p.Pro67Thr) c.407-628C>A (n.407-628C>A) n.744C>A | |
17 | g.39872416C= | CA2259290900 | ZPBP2 | c.553C= (p.Pro185=) c.487C= (p.Pro163=) c.199C= (p.Pro67=) c.407-628C= (n.407-628C=) n.744C= | |
17 | g.39872416C>G | CA399279964 | ZPBP2 | c.553C>G (p.Pro185Ala) c.487C>G (p.Pro163Ala) c.199C>G (p.Pro67Ala) c.407-628C>G (n.407-628C>G) n.744C>G | |
17 | g.39872416C>T | CA8535978 | ZPBP2 | c.553C>T (p.Pro185Ser) c.487C>T (p.Pro163Ser) c.199C>T (p.Pro67Ser) c.407-628C>T (n.407-628C>T) n.744C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.39872417C>A | CA399279965 | ZPBP2 | c.554C>A (p.Pro185Gln) c.488C>A (p.Pro163Gln) c.200C>A (p.Pro67Gln) c.407-627C>A (n.407-627C>A) n.745C>A | |
17 | g.39872417C= | CA2259290901 | ZPBP2 | c.554C= (p.Pro185=) c.488C= (p.Pro163=) c.200C= (p.Pro67=) c.407-627C= (n.407-627C=) n.745C= | |
17 | g.39872417C>G | CA399279967 | ZPBP2 | c.554C>G (p.Pro185Arg) c.488C>G (p.Pro163Arg) c.200C>G (p.Pro67Arg) c.407-627C>G (n.407-627C>G) n.745C>G | dbSNP gnomAD v4 |
17 | g.39872417C>T | CA399279968 | ZPBP2 | c.554C>T (p.Pro185Leu) c.488C>T (p.Pro163Leu) c.200C>T (p.Pro67Leu) c.407-627C>T (n.407-627C>T) n.745C>T | gnomAD v4 |
17 | g.39872418A>C | CA499931746 | ZPBP2 | c.555A>C (p.Pro185=) c.489A>C (p.Pro163=) c.201A>C (p.Pro67=) c.407-626A>C (n.407-626A>C) n.746A>C | |
17 | g.39872418A>G | CA499931747 | ZPBP2 | c.555A>G (p.Pro185=) c.489A>G (p.Pro163=) c.201A>G (p.Pro67=) c.407-626A>G (n.407-626A>G) n.746A>G | |
17 | g.39872418A>T | CA499931748 | ZPBP2 | c.555A>T (p.Pro185=) c.489A>T (p.Pro163=) c.201A>T (p.Pro67=) c.407-626A>T (n.407-626A>T) n.746A>T | |
17 | g.39872419T>A | CA399279972 | ZPBP2 | c.556T>A (p.Ser186Thr) c.490T>A (p.Ser164Thr) c.202T>A (p.Ser68Thr) c.407-625T>A (n.407-625T>A) n.747T>A | |
17 | g.39872419T>C | CA399279974 | ZPBP2 | c.556T>C (p.Ser186Pro) c.490T>C (p.Ser164Pro) c.202T>C (p.Ser68Pro) c.407-625T>C (n.407-625T>C) n.747T>C | |
17 | g.39872419T>G | CA399279977 | ZPBP2 | c.556T>G (p.Ser186Ala) c.490T>G (p.Ser164Ala) c.202T>G (p.Ser68Ala) c.407-625T>G (n.407-625T>G) n.747T>G | |
17 | g.39872420C>A | CA399279978 | ZPBP2 | c.557C>A (p.Ser186Ter) c.491C>A (p.Ser164Ter) c.203C>A (p.Ser68Ter) c.407-624C>A (n.407-624C>A) n.748C>A | |
17 | g.39872420C>G | CA399279979 | ZPBP2 | c.557C>G (p.Ser186Ter) c.491C>G (p.Ser164Ter) c.203C>G (p.Ser68Ter) c.407-624C>G (n.407-624C>G) n.748C>G | |
17 | g.39872420C>T | CA399279980 | ZPBP2 | c.557C>T (p.Ser186Leu) c.491C>T (p.Ser164Leu) c.203C>T (p.Ser68Leu) c.407-624C>T (n.407-624C>T) n.748C>T | |
17 | g.39872421A>C | CA499931749 | ZPBP2 | c.558A>C (p.Ser186=) c.492A>C (p.Ser164=) c.204A>C (p.Ser68=) c.407-623A>C (n.407-623A>C) n.749A>C | |
17 | g.39872421A>G | CA499931750 | ZPBP2 | c.558A>G (p.Ser186=) c.492A>G (p.Ser164=) c.204A>G (p.Ser68=) c.407-623A>G (n.407-623A>G) n.749A>G | COSMIC |
17 | g.39872421A>T | CA499931751 | ZPBP2 | c.558A>T (p.Ser186=) c.492A>T (p.Ser164=) c.204A>T (p.Ser68=) c.407-623A>T (n.407-623A>T) n.749A>T | gnomAD v4 |
17 | g.39872422T>A | CA399279985 | ZPBP2 | c.559T>A (p.Tyr187Asn) c.493T>A (p.Tyr165Asn) c.205T>A (p.Tyr69Asn) c.407-622T>A (n.407-622T>A) n.750T>A | |
17 | g.39872422T>C | CA399279983 | ZPBP2 | c.559T>C (p.Tyr187His) c.493T>C (p.Tyr165His) c.205T>C (p.Tyr69His) c.407-622T>C (n.407-622T>C) n.750T>C | gnomAD v4 |
17 | g.39872422T>G | CA399279981 | ZPBP2 | c.559T>G (p.Tyr187Asp) c.493T>G (p.Tyr165Asp) c.205T>G (p.Tyr69Asp) c.407-622T>G (n.407-622T>G) n.750T>G | |
17 | g.39872423A>C | CA399279990 | ZPBP2 | c.560A>C (p.Tyr187Ser) c.494A>C (p.Tyr165Ser) c.206A>C (p.Tyr69Ser) c.407-621A>C (n.407-621A>C) n.751A>C | gnomAD v4 |
17 | g.39872423A>G | CA399279988 | ZPBP2 | c.560A>G (p.Tyr187Cys) c.494A>G (p.Tyr165Cys) c.206A>G (p.Tyr69Cys) c.407-621A>G (n.407-621A>G) n.751A>G | |
17 | g.39872423A>T | CA399279993 | ZPBP2 | c.560A>T (p.Tyr187Phe) c.494A>T (p.Tyr165Phe) c.206A>T (p.Tyr69Phe) c.407-621A>T (n.407-621A>T) n.751A>T | |
17 | g.39872424del | CA2576255762 | ZPBP2 | c.561del (p.Tyr187Ter) c.495del (p.Tyr165Ter) c.207del (p.Tyr69Ter) c.407-620del (n.407-620del) n.752del | |
17 | g.39872424T>A | CA399279997 | ZPBP2 | c.561T>A (p.Tyr187Ter) c.495T>A (p.Tyr165Ter) c.207T>A (p.Tyr69Ter) c.407-620T>A (n.407-620T>A) n.752T>A | |
17 | g.39872424T>C | CA499931752 | ZPBP2 | c.561T>C (p.Tyr187=) c.495T>C (p.Tyr165=) c.207T>C (p.Tyr69=) c.407-620T>C (n.407-620T>C) n.752T>C | |
17 | g.39872424T>G | CA399279999 | ZPBP2 | c.561T>G (p.Tyr187Ter) c.495T>G (p.Tyr165Ter) c.207T>G (p.Tyr69Ter) c.407-620T>G (n.407-620T>G) n.752T>G | |
17 | g.39872425A>C | CA399280000 | ZPBP2 | c.562A>C (p.Lys188Gln) c.496A>C (p.Lys166Gln) c.208A>C (p.Lys70Gln) c.407-619A>C (n.407-619A>C) n.753A>C | |
17 | g.39872425A>G | CA399280007 | ZPBP2 | c.562A>G (p.Lys188Glu) c.496A>G (p.Lys166Glu) c.208A>G (p.Lys70Glu) c.407-619A>G (n.407-619A>G) n.753A>G | |
17 | g.39872425A>T | CA399280010 | ZPBP2 | c.562A>T (p.Lys188Ter) c.496A>T (p.Lys166Ter) c.208A>T (p.Lys70Ter) c.407-619A>T (n.407-619A>T) n.753A>T | |
17 | g.39872426A>C | CA399280012 | ZPBP2 | c.563A>C (p.Lys188Thr) c.497A>C (p.Lys166Thr) c.209A>C (p.Lys70Thr) c.407-618A>C (n.407-618A>C) n.754A>C | |
17 | g.39872426A>G | CA399280015 | ZPBP2 | c.563A>G (p.Lys188Arg) c.497A>G (p.Lys166Arg) c.209A>G (p.Lys70Arg) c.407-618A>G (n.407-618A>G) n.754A>G | |
17 | g.39872426A>T | CA399280017 | ZPBP2 | c.563A>T (p.Lys188Ile) c.497A>T (p.Lys166Ile) c.209A>T (p.Lys70Ile) c.407-618A>T (n.407-618A>T) n.754A>T | |
17 | g.39872427A>C | CA399280019 | ZPBP2 | c.564A>C (p.Lys188Asn) c.498A>C (p.Lys166Asn) c.210A>C (p.Lys70Asn) c.407-617A>C (n.407-617A>C) n.755A>C | |
17 | g.39872427A>G | CA499931753 | ZPBP2 | c.564A>G (p.Lys188=) c.498A>G (p.Lys166=) c.210A>G (p.Lys70=) c.407-617A>G (n.407-617A>G) n.755A>G | |
17 | g.39872427A>T | CA399280020 | ZPBP2 | c.564A>T (p.Lys188Asn) c.498A>T (p.Lys166Asn) c.210A>T (p.Lys70Asn) c.407-617A>T (n.407-617A>T) n.755A>T | |
17 | g.39872428T>A | CA399280023 | ZPBP2 | c.565T>A (p.Cys189Ser) c.499T>A (p.Cys167Ser) c.211T>A (p.Cys71Ser) c.407-616T>A (n.407-616T>A) n.756T>A | |
17 | g.39872428T>C | CA399280025 | ZPBP2 | c.565T>C (p.Cys189Arg) c.499T>C (p.Cys167Arg) c.211T>C (p.Cys71Arg) c.407-616T>C (n.407-616T>C) n.756T>C | gnomAD v4 |
17 | g.39872428T>G | CA399280026 | ZPBP2 | c.565T>G (p.Cys189Gly) c.499T>G (p.Cys167Gly) c.211T>G (p.Cys71Gly) c.407-616T>G (n.407-616T>G) n.756T>G | |
17 | g.39872429G>A | CA399280027 | ZPBP2 | c.566G>A (p.Cys189Tyr) c.500G>A (p.Cys167Tyr) c.212G>A (p.Cys71Tyr) c.407-615G>A (n.407-615G>A) n.757G>A | dbSNP gnomAD v4 |
17 | g.39872429G>C | CA399280029 | ZPBP2 | c.566G>C (p.Cys189Ser) c.500G>C (p.Cys167Ser) c.212G>C (p.Cys71Ser) c.407-615G>C (n.407-615G>C) n.757G>C | |
17 | g.39872429G= | CA2259290902 | ZPBP2 | c.566G= (p.Cys189=) c.500G= (p.Cys167=) c.212G= (p.Cys71=) c.407-615G= (n.407-615G=) n.757G= | |
17 | g.39872429G>T | CA399280028 | ZPBP2 | c.566G>T (p.Cys189Phe) c.500G>T (p.Cys167Phe) c.212G>T (p.Cys71Phe) c.407-615G>T (n.407-615G>T) n.757G>T | |
17 | g.39872430C>A | CA399280030 | ZPBP2 | c.567C>A (p.Cys189Ter) c.501C>A (p.Cys167Ter) c.213C>A (p.Cys71Ter) c.407-614C>A (n.407-614C>A) n.758C>A | |
17 | g.39872430C>G | CA399280031 | ZPBP2 | c.567C>G (p.Cys189Trp) c.501C>G (p.Cys167Trp) c.213C>G (p.Cys71Trp) c.407-614C>G (n.407-614C>G) n.758C>G | |
17 | g.39872430C>T | CA499931754 | ZPBP2 | c.567C>T (p.Cys189=) c.501C>T (p.Cys167=) c.213C>T (p.Cys71=) c.407-614C>T (n.407-614C>T) n.758C>T | |
17 | g.39872430_39872434delinsCCATT | CA2259290903 | ZPBP2 | c.567_571delinsCCATT (p.Cys189=) c.501_505delinsCCATT (p.Cys167=) c.213_217delinsCCATT (p.Cys71=) c.407-614_407-610delinsCCATT (n.407-614_407-610delinsCCATT) n.758_762delinsCCATT | |
17 | g.39872431C>A | CA399280032 | ZPBP2 | c.568C>A (p.His190Asn) c.502C>A (p.His168Asn) c.214C>A (p.His72Asn) c.407-613C>A (n.407-613C>A) n.759C>A | |
17 | g.39872431C>G | CA399280033 | ZPBP2 | c.568C>G (p.His190Asp) c.502C>G (p.His168Asp) c.214C>G (p.His72Asp) c.407-613C>G (n.407-613C>G) n.759C>G | |
17 | g.39872431C>T | CA399280034 | ZPBP2 | c.568C>T (p.His190Tyr) c.502C>T (p.His168Tyr) c.214C>T (p.His72Tyr) c.407-613C>T (n.407-613C>T) n.759C>T | |
17 | g.39872432_39872435del | CA625946588 | ZPBP2 | c.569_572del (p.His190LeufsTer15) c.503_506del (p.His168LeufsTer15) c.215_218del (p.His72LeufsTer15) c.407-612_407-609del (n.407-612_407-609del) n.760_763del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872431_39872442delinsCATTCTGTTGAA | CA2259290904 | ZPBP2 | c.568_579delinsCATTCTGTTGAA (p.His190=) c.502_513delinsCATTCTGTTGAA (p.His168=) c.214_225delinsCATTCTGTTGAA (p.His72=) c.407-613_407-602delinsCATTCTGTTGAA (n.407-613_407-602delinsCATTCTGTTGAA) n.759_770delinsCATTCTGTTGAA | |
17 | g.39872432A= | CA2259290905 | ZPBP2 | c.569A= (p.His190=) c.503A= (p.His168=) c.215A= (p.His72=) c.407-612A= (n.407-612A=) n.760A= | |
17 | g.39872432A>C | CA399280035 | ZPBP2 | c.569A>C (p.His190Pro) c.503A>C (p.His168Pro) c.215A>C (p.His72Pro) c.407-612A>C (n.407-612A>C) n.760A>C | |
17 | g.39872432A>G | CA399280036 | ZPBP2 | c.569A>G (p.His190Arg) c.503A>G (p.His168Arg) c.215A>G (p.His72Arg) c.407-612A>G (n.407-612A>G) n.760A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872432A>T | CA399280037 | ZPBP2 | c.569A>T (p.His190Leu) c.503A>T (p.His168Leu) c.215A>T (p.His72Leu) c.407-612A>T (n.407-612A>T) n.760A>T | |
17 | g.39872436_39872446del | CA625946589 | ZPBP2 | c.573_583del (p.Val192ArgfsTer7) c.507_517del (p.Val170ArgfsTer7) c.219_229del (p.Val74ArgfsTer7) c.407-608_407-598del (n.407-608_407-598del) n.764_774del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.39872433T>A | CA399280038 | ZPBP2 | c.570T>A (p.His190Gln) c.504T>A (p.His168Gln) c.216T>A (p.His72Gln) c.407-611T>A (n.407-611T>A) n.761T>A | |
17 | g.39872433T>C | CA499931755 | ZPBP2 | c.570T>C (p.His190=) c.504T>C (p.His168=) c.216T>C (p.His72=) c.407-611T>C (n.407-611T>C) n.761T>C | |
17 | g.39872433T>G | CA399280039 | ZPBP2 | c.570T>G (p.His190Gln) c.504T>G (p.His168Gln) c.216T>G (p.His72Gln) c.407-611T>G (n.407-611T>G) n.761T>G | |
17 | g.39872434T>A | CA8535979 | ZPBP2 | c.571T>A (p.Ser191Thr) c.505T>A (p.Ser169Thr) c.217T>A (p.Ser73Thr) c.407-610T>A (n.407-610T>A) n.762T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.39872434T>C | CA399280041 | ZPBP2 | c.571T>C (p.Ser191Pro) c.505T>C (p.Ser169Pro) c.217T>C (p.Ser73Pro) c.407-610T>C (n.407-610T>C) n.762T>C | |
17 | g.39872434T>G | CA399280040 | ZPBP2 | c.571T>G (p.Ser191Ala) c.505T>G (p.Ser169Ala) c.217T>G (p.Ser73Ala) c.407-610T>G (n.407-610T>G) n.762T>G | |
17 | g.39872434T= | CA2259290906 | ZPBP2 | c.571T= (p.Ser191=) c.505T= (p.Ser169=) c.217T= (p.Ser73=) c.407-610T= (n.407-610T=) n.762T= | |
17 | g.39872435C>A | CA399280042 | ZPBP2 | c.572C>A (p.Ser191Tyr) c.506C>A (p.Ser169Tyr) c.218C>A (p.Ser73Tyr) c.407-609C>A (n.407-609C>A) n.763C>A | |
17 | g.39872435C>G | CA399280043 | ZPBP2 | c.572C>G (p.Ser191Cys) c.506C>G (p.Ser169Cys) c.218C>G (p.Ser73Cys) c.407-609C>G (n.407-609C>G) n.763C>G | |
17 | g.39872435C>T | CA399280044 | ZPBP2 | c.572C>T (p.Ser191Phe) c.506C>T (p.Ser169Phe) c.218C>T (p.Ser73Phe) c.407-609C>T (n.407-609C>T) n.763C>T |