Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.3664718A= | CA2243984106 | P2RX5-TAX1BP3,TAX1BP3 | c.120T= (p.Asp40=) c.*3477T= (n.*3477T=) n.5175T= | |
17 | g.3664718A>C | CA397696728 | P2RX5-TAX1BP3,TAX1BP3 | c.120T>G (p.Asp40Glu) c.*3477T>G (n.*3477T>G) n.5175T>G | |
17 | g.3664718A>G | CA8292234 | P2RX5-TAX1BP3,TAX1BP3 | c.120T>C (p.Asp40=) c.*3477T>C (n.*3477T>C) n.5175T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3664718A>T | CA397696729 | P2RX5-TAX1BP3,TAX1BP3 | c.120T>A (p.Asp40Glu) c.*3477T>A (n.*3477T>A) n.5175T>A | dbSNP |
17 | g.3664719T>A | CA397696731 | P2RX5-TAX1BP3,TAX1BP3 | c.119A>T (p.Asp40Val) c.*3476A>T (n.*3476A>T) n.5174A>T | |
17 | g.3664719T>C | CA397696732 | P2RX5-TAX1BP3,TAX1BP3 | c.119A>G (p.Asp40Gly) c.*3476A>G (n.*3476A>G) n.5174A>G | |
17 | g.3664719T>G | CA397696730 | P2RX5-TAX1BP3,TAX1BP3 | c.119A>C (p.Asp40Ala) c.*3476A>C (n.*3476A>C) n.5174A>C | |
17 | g.3664720C>A | CA397696735 | P2RX5-TAX1BP3,TAX1BP3 | c.118G>T (p.Asp40Tyr) c.*3475G>T (n.*3475G>T) n.5173G>T | gnomAD v4 |
17 | g.3664720C>G | CA397696733 | P2RX5-TAX1BP3,TAX1BP3 | c.118G>C (p.Asp40His) c.*3475G>C (n.*3475G>C) n.5173G>C | |
17 | g.3664720C>T | CA397696734 | P2RX5-TAX1BP3,TAX1BP3 | c.118G>A (p.Asp40Asn) c.*3475G>A (n.*3475G>A) n.5173G>A | |
17 | g.3664721C>A | CA397696736 | P2RX5-TAX1BP3,TAX1BP3 | c.117G>T (p.Gln39His) c.*3474G>T (n.*3474G>T) n.5172G>T | |
17 | g.3664721C= | CA2243984110 | P2RX5-TAX1BP3,TAX1BP3 | c.117G= (p.Gln39=) c.*3474G= (n.*3474G=) n.5172G= | |
17 | g.3664721C>G | CA397696737 | P2RX5-TAX1BP3,TAX1BP3 | c.117G>C (p.Gln39His) c.*3474G>C (n.*3474G>C) n.5172G>C | |
17 | g.3664721C>T | CA497467355 | P2RX5-TAX1BP3,TAX1BP3 | c.117G>A (p.Gln39=) c.*3474G>A (n.*3474G>A) n.5172G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664722T>A | CA397696738 | P2RX5-TAX1BP3,TAX1BP3 | c.116A>T (p.Gln39Leu) c.*3473A>T (n.*3473A>T) n.5171A>T | |
17 | g.3664722T>C | CA397696739 | P2RX5-TAX1BP3,TAX1BP3 | c.116A>G (p.Gln39Arg) c.*3473A>G (n.*3473A>G) n.5171A>G | |
17 | g.3664722T>G | CA397696740 | P2RX5-TAX1BP3,TAX1BP3 | c.116A>C (p.Gln39Pro) c.*3473A>C (n.*3473A>C) n.5171A>C | |
17 | g.3664723G>A | CA8292236 | P2RX5-TAX1BP3,TAX1BP3 | c.115C>T (p.Gln39Ter) c.*3472C>T (n.*3472C>T) n.5170C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.3664723G>C | CA8292235 | P2RX5-TAX1BP3,TAX1BP3 | c.115C>G (p.Gln39Glu) c.*3472C>G (n.*3472C>G) n.5170C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3664723G= | CA2243984117 | P2RX5-TAX1BP3,TAX1BP3 | c.115C= (p.Gln39=) c.*3472C= (n.*3472C=) n.5170C= | |
17 | g.3664723G>T | CA397696741 | P2RX5-TAX1BP3,TAX1BP3 | c.115C>A (p.Gln39Lys) c.*3472C>A (n.*3472C>A) n.5170C>A | |
17 | g.3664724del | CA2576124040 | P2RX5-TAX1BP3,TAX1BP3 | c.115del (p.Gln39ArgfsTer?) c.*3472del (n.*3472del) c.115del (p.Gln39ArgfsTer16) n.5170del | |
17 | g.3664724G>A | CA497467356 | P2RX5-TAX1BP3,TAX1BP3 | c.114C>T (p.Asp38=) c.*3471C>T (n.*3471C>T) n.5169C>T | |
17 | g.3664724G>C | CA397696742 | P2RX5-TAX1BP3,TAX1BP3 | c.114C>G (p.Asp38Glu) c.*3471C>G (n.*3471C>G) n.5169C>G | |
17 | g.3664724G>T | CA397696743 | P2RX5-TAX1BP3,TAX1BP3 | c.114C>A (p.Asp38Glu) c.*3471C>A (n.*3471C>A) n.5169C>A | |
17 | g.3664725T>A | CA397696745 | P2RX5-TAX1BP3,TAX1BP3 | c.113A>T (p.Asp38Val) c.*3470A>T (n.*3470A>T) n.5168A>T | |
17 | g.3664725T>C | CA397696746 | P2RX5-TAX1BP3,TAX1BP3 | c.113A>G (p.Asp38Gly) c.*3470A>G (n.*3470A>G) n.5168A>G | |
17 | g.3664725T>G | CA397696744 | P2RX5-TAX1BP3,TAX1BP3 | c.113A>C (p.Asp38Ala) c.*3470A>C (n.*3470A>C) n.5168A>C | |
17 | g.3664726C>A | CA397696747 | P2RX5-TAX1BP3,TAX1BP3 | c.112G>T (p.Asp38Tyr) c.*3469G>T (n.*3469G>T) n.5167G>T | gnomAD v4 |
17 | g.3664726C= | CA2243984122 | P2RX5-TAX1BP3,TAX1BP3 | c.112G= (p.Asp38=) c.*3469G= (n.*3469G=) n.5167G= | |
17 | g.3664726C>G | CA397696748 | P2RX5-TAX1BP3,TAX1BP3 | c.112G>C (p.Asp38His) c.*3469G>C (n.*3469G>C) n.5167G>C | gnomAD v4 |
17 | g.3664726C>T | CA8292237 | P2RX5-TAX1BP3,TAX1BP3 | c.112G>A (p.Asp38Asn) c.*3469G>A (n.*3469G>A) n.5167G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3664727G>A | CA497467358 | P2RX5-TAX1BP3,TAX1BP3 | c.111C>T (p.Ile37=) c.*3468C>T (n.*3468C>T) n.5166C>T | gnomAD v4 |
17 | g.3664727G>C | CA397696749 | P2RX5-TAX1BP3,TAX1BP3 | c.111C>G (p.Ile37Met) c.*3468C>G (n.*3468C>G) n.5166C>G | |
17 | g.3664727G>T | CA497467357 | P2RX5-TAX1BP3,TAX1BP3 | c.111C>A (p.Ile37=) c.*3468C>A (n.*3468C>A) n.5166C>A | gnomAD v4 |
17 | g.3664728A>C | CA397696752 | P2RX5-TAX1BP3,TAX1BP3 | c.110T>G (p.Ile37Ser) c.*3467T>G (n.*3467T>G) n.5165T>G | |
17 | g.3664728A>G | CA397696751 | P2RX5-TAX1BP3,TAX1BP3 | c.110T>C (p.Ile37Thr) c.*3467T>C (n.*3467T>C) n.5165T>C | |
17 | g.3664728A>T | CA397696750 | P2RX5-TAX1BP3,TAX1BP3 | c.110T>A (p.Ile37Asn) c.*3467T>A (n.*3467T>A) n.5165T>A | |
17 | g.3664729T>A | CA397696753 | P2RX5-TAX1BP3,TAX1BP3 | c.109A>T (p.Ile37Phe) c.*3466A>T (n.*3466A>T) n.5164A>T | |
17 | g.3664729T>C | CA397696754 | P2RX5-TAX1BP3,TAX1BP3 | c.109A>G (p.Ile37Val) c.*3466A>G (n.*3466A>G) n.5164A>G | |
17 | g.3664729T>G | CA397696755 | P2RX5-TAX1BP3,TAX1BP3 | c.109A>C (p.Ile37Leu) c.*3466A>C (n.*3466A>C) n.5164A>C | |
17 | g.3664730T>A | CA497467359 | P2RX5-TAX1BP3,TAX1BP3 | c.108A>T (p.Gly36=) c.*3465A>T (n.*3465A>T) n.5163A>T | |
17 | g.3664730T>C | CA497467361 | P2RX5-TAX1BP3,TAX1BP3 | c.108A>G (p.Gly36=) c.*3465A>G (n.*3465A>G) n.5163A>G | |
17 | g.3664730T>G | CA497467360 | P2RX5-TAX1BP3,TAX1BP3 | c.108A>C (p.Gly36=) c.*3465A>C (n.*3465A>C) n.5163A>C | |
17 | g.3664731C>A | CA8292238 | P2RX5-TAX1BP3,TAX1BP3 | c.107G>T (p.Gly36Val) c.*3464G>T (n.*3464G>T) n.5162G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3664731C= | CA2243984128 | P2RX5-TAX1BP3,TAX1BP3 | c.107G= (p.Gly36=) c.*3464G= (n.*3464G=) n.5162G= | |
17 | g.3664731C>G | CA8292239 | P2RX5-TAX1BP3,TAX1BP3 | c.107G>C (p.Gly36Ala) c.*3464G>C (n.*3464G>C) n.5162G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3664731C>T | CA397696756 | P2RX5-TAX1BP3,TAX1BP3 | c.107G>A (p.Gly36Glu) c.*3464G>A (n.*3464G>A) n.5162G>A | gnomAD v4 |
17 | g.3664732C>A | CA397696759 | P2RX5-TAX1BP3,TAX1BP3 | c.106G>T (p.Gly36Ter) c.*3463G>T (n.*3463G>T) n.5161G>T | |
17 | g.3664732C>G | CA397696758 | P2RX5-TAX1BP3,TAX1BP3 | c.106G>C (p.Gly36Arg) c.*3463G>C (n.*3463G>C) n.5161G>C | |
17 | g.3664732C>T | CA397696757 | P2RX5-TAX1BP3,TAX1BP3 | c.106G>A (p.Gly36Arg) c.*3463G>A (n.*3463G>A) n.5161G>A | gnomAD v4 |
17 | g.3664733A>C | CA497467362 | P2RX5-TAX1BP3,TAX1BP3 | c.105T>G (p.Gly35=) c.*3462T>G (n.*3462T>G) n.5160T>G | |
17 | g.3664733A>G | CA497467363 | P2RX5-TAX1BP3,TAX1BP3 | c.105T>C (p.Gly35=) c.*3462T>C (n.*3462T>C) n.5160T>C | |
17 | g.3664733A>T | CA497467364 | P2RX5-TAX1BP3,TAX1BP3 | c.105T>A (p.Gly35=) c.*3462T>A (n.*3462T>A) n.5160T>A | |
17 | g.3664734C>A | CA397696760 | P2RX5-TAX1BP3,TAX1BP3 | c.104G>T (p.Gly35Val) c.*3461G>T (n.*3461G>T) n.5159G>T | |
17 | g.3664734C>G | CA397696761 | P2RX5-TAX1BP3,TAX1BP3 | c.104G>C (p.Gly35Ala) c.*3461G>C (n.*3461G>C) n.5159G>C | |
17 | g.3664734C>T | CA397696762 | P2RX5-TAX1BP3,TAX1BP3 | c.104G>A (p.Gly35Asp) c.*3461G>A (n.*3461G>A) n.5159G>A | gnomAD v4 |
17 | g.3664735del | CA2635427598 | P2RX5-TAX1BP3,TAX1BP3 | c.104del (p.Gly35ValfsTer?) c.*3461del (n.*3461del) c.104del (p.Gly35ValfsTer20) n.5159del | gnomAD v4 |
17 | g.3664735C>A | CA397696763 | P2RX5-TAX1BP3,TAX1BP3 | c.103G>T (p.Gly35Cys) c.*3460G>T (n.*3460G>T) n.5158G>T | |
17 | g.3664735C>G | CA397696764 | P2RX5-TAX1BP3,TAX1BP3 | c.103G>C (p.Gly35Arg) c.*3460G>C (n.*3460G>C) n.5158G>C | |
17 | g.3664735C>T | CA397696765 | P2RX5-TAX1BP3,TAX1BP3 | c.103G>A (p.Gly35Ser) c.*3460G>A (n.*3460G>A) n.5158G>A | |
17 | g.3664736T>A | CA497467365 | P2RX5-TAX1BP3,TAX1BP3 | c.102A>T (p.Gly34=) c.*3459A>T (n.*3459A>T) n.5157A>T | |
17 | g.3664736T>C | CA287025190 | P2RX5-TAX1BP3,TAX1BP3 | c.102A>G (p.Gly34=) c.*3459A>G (n.*3459A>G) n.5157A>G | dbSNP |
17 | g.3664736T>G | CA497467366 | P2RX5-TAX1BP3,TAX1BP3 | c.102A>C (p.Gly34=) c.*3459A>C (n.*3459A>C) n.5157A>C | |
17 | g.3664736T= | CA2243984132 | P2RX5-TAX1BP3,TAX1BP3 | c.102A= (p.Gly34=) c.*3459A= (n.*3459A=) n.5157A= | |
17 | g.3664737C>A | CA397696766 | P2RX5-TAX1BP3,TAX1BP3 | c.101G>T (p.Gly34Val) c.*3458G>T (n.*3458G>T) n.5156G>T | |
17 | g.3664737C>G | CA397696767 | P2RX5-TAX1BP3,TAX1BP3 | c.101G>C (p.Gly34Ala) c.*3458G>C (n.*3458G>C) n.5156G>C | |
17 | g.3664737C>T | CA397696768 | P2RX5-TAX1BP3,TAX1BP3 | c.101G>A (p.Gly34Glu) c.*3458G>A (n.*3458G>A) n.5156G>A | COSMIC |
17 | g.3664738C>A | CA397696769 | P2RX5-TAX1BP3,TAX1BP3 | c.100G>T (p.Gly34Ter) c.*3457G>T (n.*3457G>T) n.5155G>T | |
17 | g.3664738C>G | CA397696770 | P2RX5-TAX1BP3,TAX1BP3 | c.100G>C (p.Gly34Arg) c.*3457G>C (n.*3457G>C) n.5155G>C | |
17 | g.3664738C>T | CA397696771 | P2RX5-TAX1BP3,TAX1BP3 | c.100G>A (p.Gly34Arg) c.*3457G>A (n.*3457G>A) n.5155G>A | |
17 | g.3664739A>C | CA397696772 | P2RX5-TAX1BP3,TAX1BP3 | c.99T>G (p.Ile33Met) c.*3456T>G (n.*3456T>G) n.5154T>G | |
17 | g.3664739A>G | CA497467367 | P2RX5-TAX1BP3,TAX1BP3 | c.99T>C (p.Ile33=) c.*3456T>C (n.*3456T>C) n.5154T>C | |
17 | g.3664739A>T | CA497467368 | P2RX5-TAX1BP3,TAX1BP3 | c.99T>A (p.Ile33=) c.*3456T>A (n.*3456T>A) n.5154T>A | |
17 | g.3664740A= | CA2243984139 | P2RX5-TAX1BP3,TAX1BP3 | c.98T= (p.Ile33=) c.*3455T= (n.*3455T=) n.5153T= | |
17 | g.3664740A>C | CA397696774 | P2RX5-TAX1BP3,TAX1BP3 | c.98T>G (p.Ile33Ser) c.*3455T>G (n.*3455T>G) n.5153T>G | |
17 | g.3664740A>G | CA16042268 | P2RX5-TAX1BP3,TAX1BP3 | c.98T>C (p.Ile33Thr) c.*3455T>C (n.*3455T>C) n.5153T>C | ClinVar dbSNP |
17 | g.3664740A>T | CA397696773 | P2RX5-TAX1BP3,TAX1BP3 | c.98T>A (p.Ile33Asn) c.*3455T>A (n.*3455T>A) n.5153T>A | |
17 | g.3664741T>A | CA397696775 | P2RX5-TAX1BP3,TAX1BP3 | c.97A>T (p.Ile33Phe) c.*3454A>T (n.*3454A>T) n.5152A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3664741T>C | CA397696776 | P2RX5-TAX1BP3,TAX1BP3 | c.97A>G (p.Ile33Val) c.*3454A>G (n.*3454A>G) n.5152A>G | gnomAD v4 |
17 | g.3664741T>G | CA397696777 | P2RX5-TAX1BP3,TAX1BP3 | c.97A>C (p.Ile33Leu) c.*3454A>C (n.*3454A>C) n.5152A>C | |
17 | g.3664741T= | CA2243984147 | P2RX5-TAX1BP3,TAX1BP3 | c.97A= (p.Ile33=) c.*3454A= (n.*3454A=) n.5152A= | |
17 | g.3664742G>A | CA497467369 | P2RX5-TAX1BP3,TAX1BP3 | c.96C>T (p.Ser32=) c.*3453C>T (n.*3453C>T) n.5151C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664742G>C | CA397696778 | P2RX5-TAX1BP3,TAX1BP3 | c.96C>G (p.Ser32Arg) c.*3453C>G (n.*3453C>G) n.5151C>G | |
17 | g.3664742G= | CA2243984152 | P2RX5-TAX1BP3,TAX1BP3 | c.96C= (p.Ser32=) c.*3453C= (n.*3453C=) n.5151C= | |
17 | g.3664742G>T | CA397696779 | P2RX5-TAX1BP3,TAX1BP3 | c.96C>A (p.Ser32Arg) c.*3453C>A (n.*3453C>A) n.5151C>A | |
17 | g.3664743C>A | CA397696780 | P2RX5-TAX1BP3,TAX1BP3 | c.95G>T (p.Ser32Ile) c.*3452G>T (n.*3452G>T) n.5150G>T | gnomAD v4 |
17 | g.3664743C>G | CA397696781 | P2RX5-TAX1BP3,TAX1BP3 | c.95G>C (p.Ser32Thr) c.*3452G>C (n.*3452G>C) n.5150G>C | |
17 | g.3664743C>T | CA397696782 | P2RX5-TAX1BP3,TAX1BP3 | c.95G>A (p.Ser32Asn) c.*3452G>A (n.*3452G>A) n.5150G>A | |
17 | g.3664744T>A | CA397696783 | P2RX5-TAX1BP3,TAX1BP3 | c.94A>T (p.Ser32Cys) c.*3451A>T (n.*3451A>T) n.5149A>T | |
17 | g.3664744T>C | CA397696784 | P2RX5-TAX1BP3,TAX1BP3 | c.94A>G (p.Ser32Gly) c.*3451A>G (n.*3451A>G) n.5149A>G | |
17 | g.3664744T>G | CA397696785 | P2RX5-TAX1BP3,TAX1BP3 | c.94A>C (p.Ser32Arg) c.*3451A>C (n.*3451A>C) n.5149A>C | |
17 | g.3664745G>A | CA497467370 | P2RX5-TAX1BP3,TAX1BP3 | c.93C>T (p.Phe31=) c.*3450C>T (n.*3450C>T) n.5148C>T | |
17 | g.3664745G>C | CA397696786 | P2RX5-TAX1BP3,TAX1BP3 | c.93C>G (p.Phe31Leu) c.*3450C>G (n.*3450C>G) n.5148C>G | gnomAD v4 |
17 | g.3664745G>T | CA397696787 | P2RX5-TAX1BP3,TAX1BP3 | c.93C>A (p.Phe31Leu) c.*3450C>A (n.*3450C>A) n.5148C>A | |
17 | g.3664746A>C | CA397696790 | P2RX5-TAX1BP3,TAX1BP3 | c.92T>G (p.Phe31Cys) c.*3449T>G (n.*3449T>G) n.5147T>G | |
17 | g.3664746A>G | CA397696789 | P2RX5-TAX1BP3,TAX1BP3 | c.92T>C (p.Phe31Ser) c.*3449T>C (n.*3449T>C) n.5147T>C | |
17 | g.3664746A>T | CA397696788 | P2RX5-TAX1BP3,TAX1BP3 | c.92T>A (p.Phe31Tyr) c.*3449T>A (n.*3449T>A) n.5147T>A | |
17 | g.3664747A>C | CA397696792 | P2RX5-TAX1BP3,TAX1BP3 | c.91T>G (p.Phe31Val) c.*3448T>G (n.*3448T>G) n.5146T>G | |
17 | g.3664747A>G | CA397696791 | P2RX5-TAX1BP3,TAX1BP3 | c.91T>C (p.Phe31Leu) c.*3448T>C (n.*3448T>C) n.5146T>C | |
17 | g.3664747A>T | CA397696793 | P2RX5-TAX1BP3,TAX1BP3 | c.91T>A (p.Phe31Ile) c.*3448T>A (n.*3448T>A) n.5146T>A | |
17 | g.3664748A>C | CA497467371 | P2RX5-TAX1BP3,TAX1BP3 | c.90T>G (p.Gly30=) c.*3447T>G (n.*3447T>G) n.5145T>G | |
17 | g.3664748A>G | CA497467372 | P2RX5-TAX1BP3,TAX1BP3 | c.90T>C (p.Gly30=) c.*3447T>C (n.*3447T>C) n.5145T>C | |
17 | g.3664748A>T | CA497467373 | P2RX5-TAX1BP3,TAX1BP3 | c.90T>A (p.Gly30=) c.*3447T>A (n.*3447T>A) n.5145T>A | |
17 | g.3664749C>A | CA397696794 | P2RX5-TAX1BP3,TAX1BP3 | c.89G>T (p.Gly30Val) c.*3446G>T (n.*3446G>T) n.5144G>T | |
17 | g.3664749C= | CA2243984156 | P2RX5-TAX1BP3,TAX1BP3 | c.89G= (p.Gly30=) c.*3446G= (n.*3446G=) n.5144G= | |
17 | g.3664749C>G | CA397696796 | P2RX5-TAX1BP3,TAX1BP3 | c.89G>C (p.Gly30Ala) c.*3446G>C (n.*3446G>C) n.5144G>C | |
17 | g.3664749C>T | CA397696795 | P2RX5-TAX1BP3,TAX1BP3 | c.89G>A (p.Gly30Asp) c.*3446G>A (n.*3446G>A) n.5144G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664750C>A | CA397696797 | P2RX5-TAX1BP3,TAX1BP3 | c.88G>T (p.Gly30Cys) c.*3445G>T (n.*3445G>T) n.5143G>T | |
17 | g.3664750C>G | CA397696798 | P2RX5-TAX1BP3,TAX1BP3 | c.88G>C (p.Gly30Arg) c.*3445G>C (n.*3445G>C) n.5143G>C | |
17 | g.3664750C>T | CA397696799 | P2RX5-TAX1BP3,TAX1BP3 | c.88G>A (p.Gly30Ser) c.*3445G>A (n.*3445G>A) n.5143G>A | |
17 | g.3664751C>A | CA497467374 | P2RX5-TAX1BP3,TAX1BP3 | c.87G>T (p.Leu29=) c.*3444G>T (n.*3444G>T) n.5142G>T | |
17 | g.3664751C= | CA2243984161 | P2RX5-TAX1BP3,TAX1BP3 | c.87G= (p.Leu29=) c.*3444G= (n.*3444G=) n.5142G= | |
17 | g.3664751C>G | CA497467375 | P2RX5-TAX1BP3,TAX1BP3 | c.87G>C (p.Leu29=) c.*3444G>C (n.*3444G>C) n.5142G>C | gnomAD v4 |
17 | g.3664751C>T | CA287025193 | P2RX5-TAX1BP3,TAX1BP3 | c.87G>A (p.Leu29=) c.*3444G>A (n.*3444G>A) n.5142G>A | dbSNP gnomAD v4 |
17 | g.3664752A>C | CA397696800 | P2RX5-TAX1BP3,TAX1BP3 | c.86T>G (p.Leu29Arg) c.*3443T>G (n.*3443T>G) n.5141T>G | |
17 | g.3664752A>G | CA397696801 | P2RX5-TAX1BP3,TAX1BP3 | c.86T>C (p.Leu29Pro) c.*3443T>C (n.*3443T>C) n.5141T>C | |
17 | g.3664752A>T | CA397696802 | P2RX5-TAX1BP3,TAX1BP3 | c.86T>A (p.Leu29Gln) c.*3443T>A (n.*3443T>A) n.5141T>A | |
17 | g.3664753G>A | CA497467376 | P2RX5-TAX1BP3,TAX1BP3 | c.85C>T (p.Leu29=) c.*3442C>T (n.*3442C>T) n.5140C>T | COSMIC |
17 | g.3664753G>C | CA397696803 | P2RX5-TAX1BP3,TAX1BP3 | c.85C>G (p.Leu29Val) c.*3442C>G (n.*3442C>G) n.5140C>G | |
17 | g.3664753G>T | CA397696804 | P2RX5-TAX1BP3,TAX1BP3 | c.85C>A (p.Leu29Met) c.*3442C>A (n.*3442C>A) n.5140C>A | |
17 | g.3664754G>A | CA497467377 | P2RX5-TAX1BP3,TAX1BP3 | c.84C>T (p.Ile28=) c.*3441C>T (n.*3441C>T) n.5139C>T | |
17 | g.3664754G>C | CA397696805 | P2RX5-TAX1BP3,TAX1BP3 | c.84C>G (p.Ile28Met) c.*3441C>G (n.*3441C>G) n.5139C>G | |
17 | g.3664754G>T | CA497467378 | P2RX5-TAX1BP3,TAX1BP3 | c.84C>A (p.Ile28=) c.*3441C>A (n.*3441C>A) n.5139C>A | |
17 | g.3664755A= | CA2243984168 | P2RX5-TAX1BP3,TAX1BP3 | c.83T= (p.Ile28=) c.*3440T= (n.*3440T=) n.5138T= | |
17 | g.3664755A>C | CA397696806 | P2RX5-TAX1BP3,TAX1BP3 | c.83T>G (p.Ile28Ser) c.*3440T>G (n.*3440T>G) n.5138T>G | |
17 | g.3664755A>G | CA397696807 | P2RX5-TAX1BP3,TAX1BP3 | c.83T>C (p.Ile28Thr) c.*3440T>C (n.*3440T>C) n.5138T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3664755A>T | CA397696808 | P2RX5-TAX1BP3,TAX1BP3 | c.83T>A (p.Ile28Asn) c.*3440T>A (n.*3440T>A) n.5138T>A | |
17 | g.3664756T>A | CA397696809 | P2RX5-TAX1BP3,TAX1BP3 | c.82A>T (p.Ile28Phe) c.*3439A>T (n.*3439A>T) n.5137A>T | |
17 | g.3664756T>C | CA397696811 | P2RX5-TAX1BP3,TAX1BP3 | c.82A>G (p.Ile28Val) c.*3439A>G (n.*3439A>G) n.5137A>G | |
17 | g.3664756T>G | CA397696810 | P2RX5-TAX1BP3,TAX1BP3 | c.82A>C (p.Ile28Leu) c.*3439A>C (n.*3439A>C) n.5137A>C | |
17 | g.3664757T>A | CA397696812 | P2RX5-TAX1BP3,TAX1BP3 | c.81A>T (p.Leu27Phe) c.*3438A>T (n.*3438A>T) n.5136A>T | |
17 | g.3664757T>C | CA497467379 | P2RX5-TAX1BP3,TAX1BP3 | c.81A>G (p.Leu27=) c.*3438A>G (n.*3438A>G) n.5136A>G | |
17 | g.3664757T>G | CA397696813 | P2RX5-TAX1BP3,TAX1BP3 | c.81A>C (p.Leu27Phe) c.*3438A>C (n.*3438A>C) n.5136A>C | |
17 | g.3664758A>C | CA397696814 | P2RX5-TAX1BP3,TAX1BP3 | c.80T>G (p.Leu27Ter) c.*3437T>G (n.*3437T>G) n.5135T>G | |
17 | g.3664758A>G | CA397696815 | P2RX5-TAX1BP3,TAX1BP3 | c.80T>C (p.Leu27Ser) c.*3437T>C (n.*3437T>C) n.5135T>C | |
17 | g.3664758A>T | CA397696816 | P2RX5-TAX1BP3,TAX1BP3 | c.80T>A (p.Leu27Ter) c.*3437T>A (n.*3437T>A) n.5135T>A | |
17 | g.3664759A= | CA2243984171 | P2RX5-TAX1BP3,TAX1BP3 | c.79T= (p.Leu27=) c.*3436T= (n.*3436T=) n.5134T= | |
17 | g.3664759A>C | CA397696817 | P2RX5-TAX1BP3,TAX1BP3 | c.79T>G (p.Leu27Val) c.*3436T>G (n.*3436T>G) n.5134T>G | dbSNP |
17 | g.3664759A>G | CA497467380 | P2RX5-TAX1BP3,TAX1BP3 | c.79T>C (p.Leu27=) c.*3436T>C (n.*3436T>C) n.5134T>C | |
17 | g.3664759A>T | CA397696818 | P2RX5-TAX1BP3,TAX1BP3 | c.79T>A (p.Leu27Ile) c.*3436T>A (n.*3436T>A) n.5134T>A | |
17 | g.3664760G>A | CA497467381 | P2RX5-TAX1BP3,TAX1BP3 | c.78C>T (p.Asn26=) c.*3435C>T (n.*3435C>T) n.5133C>T | |
17 | g.3664760G>C | CA397696819 | P2RX5-TAX1BP3,TAX1BP3 | c.78C>G (p.Asn26Lys) c.*3435C>G (n.*3435C>G) n.5133C>G | |
17 | g.3664760G>T | CA397696820 | P2RX5-TAX1BP3,TAX1BP3 | c.78C>A (p.Asn26Lys) c.*3435C>A (n.*3435C>A) n.5133C>A | |
17 | g.3664761T>A | CA397696822 | P2RX5-TAX1BP3,TAX1BP3 | c.77A>T (p.Asn26Ile) c.*3434A>T (n.*3434A>T) n.5132A>T | |
17 | g.3664761T>C | CA397696823 | P2RX5-TAX1BP3,TAX1BP3 | c.77A>G (p.Asn26Ser) c.*3434A>G (n.*3434A>G) n.5132A>G | dbSNP |
17 | g.3664761T>G | CA397696821 | P2RX5-TAX1BP3,TAX1BP3 | c.77A>C (p.Asn26Thr) c.*3434A>C (n.*3434A>C) n.5132A>C | |
17 | g.3664761T= | CA2243984176 | P2RX5-TAX1BP3,TAX1BP3 | c.77A= (p.Asn26=) c.*3434A= (n.*3434A=) n.5132A= | |
17 | g.3664762T>A | CA397696824 | P2RX5-TAX1BP3,TAX1BP3 | c.76A>T (p.Asn26Tyr) c.*3433A>T (n.*3433A>T) n.5131A>T | |
17 | g.3664762T>C | CA397696825 | P2RX5-TAX1BP3,TAX1BP3 | c.76A>G (p.Asn26Asp) c.*3433A>G (n.*3433A>G) n.5131A>G | |
17 | g.3664762T>G | CA397696826 | P2RX5-TAX1BP3,TAX1BP3 | c.76A>C (p.Asn26His) c.*3433A>C (n.*3433A>C) n.5131A>C | |
17 | g.3664763C>A | CA397696827 | P2RX5-TAX1BP3,TAX1BP3 | c.75G>T (p.Glu25Asp) c.*3432G>T (n.*3432G>T) n.5130G>T | |
17 | g.3664763C>G | CA397696828 | P2RX5-TAX1BP3,TAX1BP3 | c.75G>C (p.Glu25Asp) c.*3432G>C (n.*3432G>C) n.5130G>C | gnomAD v4 |
17 | g.3664763C>T | CA497467382 | P2RX5-TAX1BP3,TAX1BP3 | c.75G>A (p.Glu25=) c.*3432G>A (n.*3432G>A) n.5130G>A | COSMIC |
17 | g.3664764T>A | CA397696829 | P2RX5-TAX1BP3,TAX1BP3 | c.74A>T (p.Glu25Val) c.*3431A>T (n.*3431A>T) n.5129A>T | |
17 | g.3664764T>C | CA397696830 | P2RX5-TAX1BP3,TAX1BP3 | c.74A>G (p.Glu25Gly) c.*3431A>G (n.*3431A>G) n.5129A>G | |
17 | g.3664764T>G | CA397696831 | P2RX5-TAX1BP3,TAX1BP3 | c.74A>C (p.Glu25Ala) c.*3431A>C (n.*3431A>C) n.5129A>C | |
17 | g.3664765C>A | CA397696832 | P2RX5-TAX1BP3,TAX1BP3 | c.73G>T (p.Glu25Ter) c.*3430G>T (n.*3430G>T) n.5128G>T | |
17 | g.3664765C>G | CA397696833 | P2RX5-TAX1BP3,TAX1BP3 | c.73G>C (p.Glu25Gln) c.*3430G>C (n.*3430G>C) n.5128G>C | |
17 | g.3664765C>T | CA397696834 | P2RX5-TAX1BP3,TAX1BP3 | c.73G>A (p.Glu25Lys) c.*3430G>A (n.*3430G>A) n.5128G>A | |
17 | g.3664766A>C | CA497467384 | P2RX5-TAX1BP3,TAX1BP3 | c.72T>G (p.Gly24=) c.*3429T>G (n.*3429T>G) n.5127T>G | |
17 | g.3664766A>G | CA497467383 | P2RX5-TAX1BP3,TAX1BP3 | c.72T>C (p.Gly24=) c.*3429T>C (n.*3429T>C) n.5127T>C | gnomAD v4 |
17 | g.3664766A>T | CA497467385 | P2RX5-TAX1BP3,TAX1BP3 | c.72T>A (p.Gly24=) c.*3429T>A (n.*3429T>A) n.5127T>A | |
17 | g.3664767C>A | CA397696836 | P2RX5-TAX1BP3,TAX1BP3 | c.71G>T (p.Gly24Val) c.*3428G>T (n.*3428G>T) n.5126G>T | |
17 | g.3664767C= | CA2243984182 | P2RX5-TAX1BP3,TAX1BP3 | c.71G= (p.Gly24=) c.*3428G= (n.*3428G=) n.5126G= | |
17 | g.3664767C>G | CA287025194 | P2RX5-TAX1BP3,TAX1BP3 | c.71G>C (p.Gly24Ala) c.*3428G>C (n.*3428G>C) n.5126G>C | dbSNP |
17 | g.3664767C>T | CA397696835 | P2RX5-TAX1BP3,TAX1BP3 | c.71G>A (p.Gly24Asp) c.*3428G>A (n.*3428G>A) n.5126G>A | |
17 | g.3664768C>A | CA397696837 | P2RX5-TAX1BP3,TAX1BP3 | c.70G>T (p.Gly24Cys) c.*3427G>T (n.*3427G>T) n.5125G>T | |
17 | g.3664768C= | CA2243984187 | P2RX5-TAX1BP3,TAX1BP3 | c.70G= (p.Gly24=) c.*3427G= (n.*3427G=) n.5125G= | |
17 | g.3664768C>G | CA397696838 | P2RX5-TAX1BP3,TAX1BP3 | c.70G>C (p.Gly24Arg) c.*3427G>C (n.*3427G>C) n.5125G>C | |
17 | g.3664768C>T | CA8292240 | P2RX5-TAX1BP3,TAX1BP3 | c.70G>A (p.Gly24Ser) c.*3427G>A (n.*3427G>A) n.5125G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3664769T>A | CA397696839 | P2RX5-TAX1BP3,TAX1BP3 | c.69A>T (p.Gln23His) c.*3426A>T (n.*3426A>T) n.5124A>T | |
17 | g.3664769T>C | CA497467386 | P2RX5-TAX1BP3,TAX1BP3 | c.69A>G (p.Gln23=) c.*3426A>G (n.*3426A>G) n.5124A>G | |
17 | g.3664769T>G | CA397696840 | P2RX5-TAX1BP3,TAX1BP3 | c.69A>C (p.Gln23His) c.*3426A>C (n.*3426A>C) n.5124A>C | |
17 | g.3664770T>A | CA397696843 | P2RX5-TAX1BP3,TAX1BP3 | c.68A>T (p.Gln23Leu) c.*3425A>T (n.*3425A>T) n.5123A>T | |
17 | g.3664770T>C | CA397696841 | P2RX5-TAX1BP3,TAX1BP3 | c.68A>G (p.Gln23Arg) c.*3425A>G (n.*3425A>G) n.5123A>G | gnomAD v4 |
17 | g.3664770T>G | CA397696842 | P2RX5-TAX1BP3,TAX1BP3 | c.68A>C (p.Gln23Pro) c.*3425A>C (n.*3425A>C) n.5123A>C | |
17 | g.3664771G>A | CA397696844 | P2RX5-TAX1BP3,TAX1BP3 | c.67C>T (p.Gln23Ter) c.*3424C>T (n.*3424C>T) n.5122C>T | |
17 | g.3664771G>C | CA397696845 | P2RX5-TAX1BP3,TAX1BP3 | c.67C>G (p.Gln23Glu) c.*3424C>G (n.*3424C>G) n.5122C>G | |
17 | g.3664771G>T | CA397696846 | P2RX5-TAX1BP3,TAX1BP3 | c.67C>A (p.Gln23Lys) c.*3424C>A (n.*3424C>A) n.5122C>A | |
17 | g.3664772A>C | CA497467387 | P2RX5-TAX1BP3,TAX1BP3 | c.66T>G (p.Arg22=) c.*3423T>G (n.*3423T>G) n.5121T>G | |
17 | g.3664772A>G | CA497467388 | P2RX5-TAX1BP3,TAX1BP3 | c.66T>C (p.Arg22=) c.*3423T>C (n.*3423T>C) n.5121T>C | |
17 | g.3664772A>T | CA497467389 | P2RX5-TAX1BP3,TAX1BP3 | c.66T>A (p.Arg22=) c.*3423T>A (n.*3423T>A) n.5121T>A | |
17 | g.3664773C>A | CA397696847 | P2RX5-TAX1BP3,TAX1BP3 | c.65G>T (p.Arg22Leu) c.*3422G>T (n.*3422G>T) n.5120G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664773C= | CA2243984193 | P2RX5-TAX1BP3,TAX1BP3 | c.65G= (p.Arg22=) c.*3422G= (n.*3422G=) n.5120G= | |
17 | g.3664773C>G | CA397696848 | P2RX5-TAX1BP3,TAX1BP3 | c.65G>C (p.Arg22Pro) c.*3422G>C (n.*3422G>C) n.5120G>C | gnomAD v4 |
17 | g.3664773C>T | CA8292241 | P2RX5-TAX1BP3,TAX1BP3 | c.65G>A (p.Arg22His) c.*3422G>A (n.*3422G>A) n.5120G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3664774G>A | CA8292242 | P2RX5-TAX1BP3,TAX1BP3 | c.64C>T (p.Arg22Cys) c.*3421C>T (n.*3421C>T) n.5119C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3664774G>C | CA397696850 | P2RX5-TAX1BP3,TAX1BP3 | c.64C>G (p.Arg22Gly) c.*3421C>G (n.*3421C>G) n.5119C>G | |
17 | g.3664774G= | CA2243984202 | P2RX5-TAX1BP3,TAX1BP3 | c.64C= (p.Arg22=) c.*3421C= (n.*3421C=) n.5119C= | |
17 | g.3664774G>T | CA397696849 | P2RX5-TAX1BP3,TAX1BP3 | c.64C>A (p.Arg22Ser) c.*3421C>A (n.*3421C>A) n.5119C>A | |
17 | g.3664775C>A | CA497467390 | P2RX5-TAX1BP3,TAX1BP3 | c.63G>T (p.Leu21=) c.*3420G>T (n.*3420G>T) n.5118G>T | |
17 | g.3664775C>G | CA497467391 | P2RX5-TAX1BP3,TAX1BP3 | c.63G>C (p.Leu21=) c.*3420G>C (n.*3420G>C) n.5118G>C | |
17 | g.3664775C>T | CA497467392 | P2RX5-TAX1BP3,TAX1BP3 | c.63G>A (p.Leu21=) c.*3420G>A (n.*3420G>A) n.5118G>A | gnomAD v4 |
17 | g.3664776A>C | CA397696851 | P2RX5-TAX1BP3,TAX1BP3 | c.62T>G (p.Leu21Arg) c.*3419T>G (n.*3419T>G) n.5117T>G | |
17 | g.3664776A>G | CA397696852 | P2RX5-TAX1BP3,TAX1BP3 | c.62T>C (p.Leu21Pro) c.*3419T>C (n.*3419T>C) n.5117T>C | |
17 | g.3664776A>T | CA397696853 | P2RX5-TAX1BP3,TAX1BP3 | c.62T>A (p.Leu21Gln) c.*3419T>A (n.*3419T>A) n.5117T>A | |
17 | g.3664777G>A | CA497467393 | P2RX5-TAX1BP3,TAX1BP3 | c.61C>T (p.Leu21=) c.*3418C>T (n.*3418C>T) n.5116C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664777G>C | CA397696854 | P2RX5-TAX1BP3,TAX1BP3 | c.61C>G (p.Leu21Val) c.*3418C>G (n.*3418C>G) n.5116C>G | |
17 | g.3664777G= | CA2243984209 | P2RX5-TAX1BP3,TAX1BP3 | c.61C= (p.Leu21=) c.*3418C= (n.*3418C=) n.5116C= | |
17 | g.3664777G>T | CA397696855 | P2RX5-TAX1BP3,TAX1BP3 | c.61C>A (p.Leu21Met) c.*3418C>A (n.*3418C>A) n.5116C>A | |
17 | g.3664778C>A | CA397696856 | P2RX5-TAX1BP3,TAX1BP3 | c.60G>T (p.Lys20Asn) c.*3417G>T (n.*3417G>T) n.5115G>T | |
17 | g.3664778C= | CA2243984222 | P2RX5-TAX1BP3,TAX1BP3 | c.60G= (p.Lys20=) c.*3417G= (n.*3417G=) n.5115G= | |
17 | g.3664778C>G | CA397696857 | P2RX5-TAX1BP3,TAX1BP3 | c.60G>C (p.Lys20Asn) c.*3417G>C (n.*3417G>C) n.5115G>C | gnomAD v4 |
17 | g.3664778C>T | CA497467395 | P2RX5-TAX1BP3,TAX1BP3 | c.60G>A (p.Lys20=) c.*3417G>A (n.*3417G>A) n.5115G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664779T>A | CA397696858 | P2RX5-TAX1BP3,TAX1BP3 | c.59A>T (p.Lys20Met) c.*3416A>T (n.*3416A>T) n.5114A>T | |
17 | g.3664779T>C | CA397696860 | P2RX5-TAX1BP3,TAX1BP3 | c.59A>G (p.Lys20Arg) c.*3416A>G (n.*3416A>G) n.5114A>G | |
17 | g.3664779T>G | CA397696859 | P2RX5-TAX1BP3,TAX1BP3 | c.59A>C (p.Lys20Thr) c.*3416A>C (n.*3416A>C) n.5114A>C | |
17 | g.3664780T>A | CA397696861 | P2RX5-TAX1BP3,TAX1BP3 | c.58A>T (p.Lys20Ter) c.*3415A>T (n.*3415A>T) n.5113A>T | |
17 | g.3664780T>C | CA397696862 | P2RX5-TAX1BP3,TAX1BP3 | c.58A>G (p.Lys20Glu) c.*3415A>G (n.*3415A>G) n.5113A>G | |
17 | g.3664780T>G | CA397696863 | P2RX5-TAX1BP3,TAX1BP3 | c.58A>C (p.Lys20Gln) c.*3415A>C (n.*3415A>C) n.5113A>C | |
17 | g.3664781G>A | CA497467399 | P2RX5-TAX1BP3,TAX1BP3 | c.57C>T (p.His19=) c.*3414C>T (n.*3414C>T) n.5112C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3664781G>C | CA397696864 | P2RX5-TAX1BP3,TAX1BP3 | c.57C>G (p.His19Gln) c.*3414C>G (n.*3414C>G) n.5112C>G | |
17 | g.3664781G= | CA2243984225 | P2RX5-TAX1BP3,TAX1BP3 | c.57C= (p.His19=) c.*3414C= (n.*3414C=) n.5112C= | |
17 | g.3664781G>T | CA397696865 | P2RX5-TAX1BP3,TAX1BP3 | c.57C>A (p.His19Gln) c.*3414C>A (n.*3414C>A) n.5112C>A | |
17 | g.3664782T>A | CA397696866 | P2RX5-TAX1BP3,TAX1BP3 | c.56A>T (p.His19Leu) c.*3413A>T (n.*3413A>T) n.5111A>T | |
17 | g.3664782T>C | CA397696868 | P2RX5-TAX1BP3,TAX1BP3 | c.56A>G (p.His19Arg) c.*3413A>G (n.*3413A>G) n.5111A>G | |
17 | g.3664782T>G | CA397696867 | P2RX5-TAX1BP3,TAX1BP3 | c.56A>C (p.His19Pro) c.*3413A>C (n.*3413A>C) n.5111A>C | |
17 | g.3664783G>A | CA397696869 | P2RX5-TAX1BP3,TAX1BP3 | c.55C>T (p.His19Tyr) c.*3412C>T (n.*3412C>T) n.5110C>T | dbSNP gnomAD v4 |
17 | g.3664783G>C | CA397696870 | P2RX5-TAX1BP3,TAX1BP3 | c.55C>G (p.His19Asp) c.*3412C>G (n.*3412C>G) n.5110C>G | |
17 | g.3664783G= | CA2243984231 | P2RX5-TAX1BP3,TAX1BP3 | c.55C= (p.His19=) c.*3412C= (n.*3412C=) n.5110C= | |
17 | g.3664783G>T | CA397696871 | P2RX5-TAX1BP3,TAX1BP3 | c.55C>A (p.His19Asn) c.*3412C>A (n.*3412C>A) n.5110C>A | |
17 | g.3664784A>C | CA397696872 | P2RX5-TAX1BP3,TAX1BP3 | c.54T>G (p.Ile18Met) c.*3411T>G (n.*3411T>G) n.5109T>G | |
17 | g.3664784A>G | CA497467403 | P2RX5-TAX1BP3,TAX1BP3 | c.54T>C (p.Ile18=) c.*3411T>C (n.*3411T>C) n.5109T>C | |
17 | g.3664784A>T | CA497467404 | P2RX5-TAX1BP3,TAX1BP3 | c.54T>A (p.Ile18=) c.*3411T>A (n.*3411T>A) n.5109T>A | |
17 | g.3664785A>C | CA397696873 | P2RX5-TAX1BP3,TAX1BP3 | c.53T>G (p.Ile18Ser) c.*3410T>G (n.*3410T>G) n.5108T>G | |
17 | g.3664785A>G | CA397696874 | P2RX5-TAX1BP3,TAX1BP3 | c.53T>C (p.Ile18Thr) c.*3410T>C (n.*3410T>C) n.5108T>C | |
17 | g.3664785A>T | CA397696875 | P2RX5-TAX1BP3,TAX1BP3 | c.53T>A (p.Ile18Asn) c.*3410T>A (n.*3410T>A) n.5108T>A | |
17 | g.3664786T>A | CA397696876 | P2RX5-TAX1BP3,TAX1BP3 | c.52A>T (p.Ile18Phe) c.*3409A>T (n.*3409A>T) n.5107A>T | |
17 | g.3664786T>C | CA397696877 | P2RX5-TAX1BP3,TAX1BP3 | c.52A>G (p.Ile18Val) c.*3409A>G (n.*3409A>G) n.5107A>G | gnomAD v4 |
17 | g.3664786T>G | CA397696878 | P2RX5-TAX1BP3,TAX1BP3 | c.52A>C (p.Ile18Leu) c.*3409A>C (n.*3409A>C) n.5107A>C | |
17 | g.3664787T>A | CA397696879 | P2RX5-TAX1BP3,TAX1BP3 | c.51A>T (p.Glu17Asp) c.*3408A>T (n.*3408A>T) n.5106A>T | gnomAD v4 |
17 | g.3664787T>C | CA497467408 | P2RX5-TAX1BP3,TAX1BP3 | c.51A>G (p.Glu17=) c.*3408A>G (n.*3408A>G) n.5106A>G | |
17 | g.3664787T>G | CA397696880 | P2RX5-TAX1BP3,TAX1BP3 | c.51A>C (p.Glu17Asp) c.*3408A>C (n.*3408A>C) n.5106A>C | |
17 | g.3664788T>A | CA397696881 | P2RX5-TAX1BP3,TAX1BP3 | c.50A>T (p.Glu17Val) c.*3407A>T (n.*3407A>T) n.5105A>T | |
17 | g.3664788T>C | CA397696883 | P2RX5-TAX1BP3,TAX1BP3 | c.50A>G (p.Glu17Gly) c.*3407A>G (n.*3407A>G) n.5105A>G | |
17 | g.3664788T>G | CA397696882 | P2RX5-TAX1BP3,TAX1BP3 | c.50A>C (p.Glu17Ala) c.*3407A>C (n.*3407A>C) n.5105A>C | |
17 | g.3664789C>A | CA397696884 | P2RX5-TAX1BP3,TAX1BP3 | c.49G>T (p.Glu17Ter) c.*3406G>T (n.*3406G>T) n.5104G>T | |
17 | g.3664789C>G | CA397696885 | P2RX5-TAX1BP3,TAX1BP3 | c.49G>C (p.Glu17Gln) c.*3406G>C (n.*3406G>C) n.5104G>C | |
17 | g.3664789C>T | CA397696886 | P2RX5-TAX1BP3,TAX1BP3 | c.49G>A (p.Glu17Lys) c.*3406G>A (n.*3406G>A) n.5104G>A | |
17 | g.3664790A>C | CA497467410 | P2RX5-TAX1BP3,TAX1BP3 | c.48T>G (p.Val16=) c.*3405T>G (n.*3405T>G) n.5103T>G | gnomAD v4 |
17 | g.3664790A>G | CA497467411 | P2RX5-TAX1BP3,TAX1BP3 | c.48T>C (p.Val16=) c.*3405T>C (n.*3405T>C) n.5103T>C | |
17 | g.3664790A>T | CA497467412 | P2RX5-TAX1BP3,TAX1BP3 | c.48T>A (p.Val16=) c.*3405T>A (n.*3405T>A) n.5103T>A | |
17 | g.3664791del | CA497467414 | P2RX5-TAX1BP3,TAX1BP3 | c.48del (p.Glu17LysfsTer11) c.*3405del (n.*3405del) n.5103del | COSMIC |
17 | g.3664791A= | CA2243984240 | P2RX5-TAX1BP3,TAX1BP3 | c.47T= (p.Val16=) c.*3404T= (n.*3404T=) n.5102T= | |
17 | g.3664791A>C | CA397696887 | P2RX5-TAX1BP3,TAX1BP3 | c.47T>G (p.Val16Gly) c.*3404T>G (n.*3404T>G) n.5102T>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664791A>G | CA8292243 | P2RX5-TAX1BP3,TAX1BP3 | c.47T>C (p.Val16Ala) c.*3404T>C (n.*3404T>C) n.5102T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3664791A>T | CA397696888 | P2RX5-TAX1BP3,TAX1BP3 | c.47T>A (p.Val16Asp) c.*3404T>A (n.*3404T>A) n.5102T>A | gnomAD v4 |
17 | g.3664792C>A | CA397696891 | P2RX5-TAX1BP3,TAX1BP3 | c.46G>T (p.Val16Phe) c.*3403G>T (n.*3403G>T) n.5101G>T | ClinVar dbSNP gnomAD v4 |
17 | g.3664792C= | CA2243984247 | P2RX5-TAX1BP3,TAX1BP3 | c.46G= (p.Val16=) c.*3403G= (n.*3403G=) n.5101G= | |
17 | g.3664792C>G | CA397696889 | P2RX5-TAX1BP3,TAX1BP3 | c.46G>C (p.Val16Leu) c.*3403G>C (n.*3403G>C) n.5101G>C | |
17 | g.3664792C>T | CA397696890 | P2RX5-TAX1BP3,TAX1BP3 | c.46G>A (p.Val16Ile) c.*3403G>A (n.*3403G>A) n.5101G>A | |
17 | g.3664793T>A | CA397696892 | P2RX5-TAX1BP3,TAX1BP3 | c.45A>T (p.Arg15Ser) c.*3402A>T (n.*3402A>T) n.5100A>T | |
17 | g.3664793T>C | CA497467416 | P2RX5-TAX1BP3,TAX1BP3 | c.45A>G (p.Arg15=) c.*3402A>G (n.*3402A>G) n.5100A>G | |
17 | g.3664793T>G | CA397696893 | P2RX5-TAX1BP3,TAX1BP3 | c.45A>C (p.Arg15Ser) c.*3402A>C (n.*3402A>C) n.5100A>C | |
17 | g.3664794C>A | CA397696894 | P2RX5-TAX1BP3,TAX1BP3 | c.44G>T (p.Arg15Ile) c.*3401G>T (n.*3401G>T) n.5099G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664794C= | CA2243984251 | P2RX5-TAX1BP3,TAX1BP3 | c.44G= (p.Arg15=) c.*3401G= (n.*3401G=) n.5099G= | |
17 | g.3664794C>G | CA397696895 | P2RX5-TAX1BP3,TAX1BP3 | c.44G>C (p.Arg15Thr) c.*3401G>C (n.*3401G>C) n.5099G>C | |
17 | g.3664794C>T | CA397696896 | P2RX5-TAX1BP3,TAX1BP3 | c.44G>A (p.Arg15Lys) c.*3401G>A (n.*3401G>A) n.5099G>A | |
17 | g.3664794_3664796delinsCTT | CA2243984253 | P2RX5-TAX1BP3,TAX1BP3 | c.42_44delinsAAG (p.Gln14=) c.*3399_*3401delinsAAG (n.*3399_*3401delinsAAG) n.5097_5099delinsAAG | |
17 | g.3664795T>A | CA397696897 | P2RX5-TAX1BP3,TAX1BP3 | c.43A>T (p.Arg15Ter) c.*3400A>T (n.*3400A>T) n.5098A>T | |
17 | g.3664795T>C | CA397696898 | P2RX5-TAX1BP3,TAX1BP3 | c.43A>G (p.Arg15Gly) c.*3400A>G (n.*3400A>G) n.5098A>G | |
17 | g.3664795T>G | CA497467418 | P2RX5-TAX1BP3,TAX1BP3 | c.43A>C (p.Arg15=) c.*3400A>C (n.*3400A>C) n.5098A>C | |
17 | g.3664796_3664797del | CA287025211 | P2RX5-TAX1BP3,TAX1BP3 | c.42_43del (p.Arg15SerfsTer2) c.*3399_*3400del (n.*3399_*3400del) n.5097_5098del | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.3664796T>A | CA397696899 | P2RX5-TAX1BP3,TAX1BP3 | c.42A>T (p.Gln14His) c.*3399A>T (n.*3399A>T) n.5097A>T | |
17 | g.3664796T>C | CA497467422 | P2RX5-TAX1BP3,TAX1BP3 | c.42A>G (p.Gln14=) c.*3399A>G (n.*3399A>G) n.5097A>G | |
17 | g.3664796T>G | CA397696900 | P2RX5-TAX1BP3,TAX1BP3 | c.42A>C (p.Gln14His) c.*3399A>C (n.*3399A>C) n.5097A>C | |
17 | g.3664797T>A | CA397696901 | P2RX5-TAX1BP3,TAX1BP3 | c.41A>T (p.Gln14Leu) c.*3398A>T (n.*3398A>T) n.5096A>T | |
17 | g.3664797T>C | CA397696902 | P2RX5-TAX1BP3,TAX1BP3 | c.41A>G (p.Gln14Arg) c.*3398A>G (n.*3398A>G) n.5096A>G | dbSNP |
17 | g.3664797T>G | CA397696903 | P2RX5-TAX1BP3,TAX1BP3 | c.41A>C (p.Gln14Pro) c.*3398A>C (n.*3398A>C) n.5096A>C | |
17 | g.3664797T= | CA2243984266 | P2RX5-TAX1BP3,TAX1BP3 | c.41A= (p.Gln14=) c.*3398A= (n.*3398A=) n.5096A= | |
17 | g.3664798G>A | CA397696904 | P2RX5-TAX1BP3,TAX1BP3 | c.40C>T (p.Gln14Ter) c.*3397C>T (n.*3397C>T) n.5095C>T | |
17 | g.3664798G>C | CA397696905 | P2RX5-TAX1BP3,TAX1BP3 | c.40C>G (p.Gln14Glu) c.*3397C>G (n.*3397C>G) n.5095C>G | |
17 | g.3664798G>T | CA397696906 | P2RX5-TAX1BP3,TAX1BP3 | c.40C>A (p.Gln14Lys) c.*3397C>A (n.*3397C>A) n.5095C>A | |
17 | g.3664799C>A | CA397696907 | P2RX5-TAX1BP3,TAX1BP3 | c.40-1G>T (n.40-1G>T) c.*3397-1G>T (n.*3397-1G>T) n.5095-1G>T | |
17 | g.3664799C= | CA2243984272 | P2RX5-TAX1BP3,TAX1BP3 | c.40-1G= (n.40-1G=) c.*3397-1G= (n.*3397-1G=) n.5095-1G= | |
17 | g.3664799C>G | CA8292244 | P2RX5-TAX1BP3,TAX1BP3 | c.40-1G>C (n.40-1G>C) c.*3397-1G>C (n.*3397-1G>C) n.5095-1G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3664799C>T | CA397696908 | P2RX5-TAX1BP3,TAX1BP3 | c.40-1G>A (n.40-1G>A) c.*3397-1G>A (n.*3397-1G>A) n.5095-1G>A | |
17 | g.3664799_3664803del | CA2635424479 | P2RX5-TAX1BP3,TAX1BP3 | c.40-5_40-1del (n.40-5_40-1del) c.*3397-5_*3397-1del (n.*3397-5_*3397-1del) n.5095-5_5095-1del | gnomAD v4 |
17 | g.3664799_3664800insACCACGGCGG | CA2733023732 | P2RX5-TAX1BP3,TAX1BP3 | c.40-2_40-1insCCGCCGTGGT (n.40-2_40-1insCCGCCGTGGT) c.*3397-2_*3397-1insCCGCCGTGGT (n.*3397-2_*3397-1insCCGCCGTGGT) n.5095-2_5095-1insCCGCCGTGGT | dbSNP |
17 | g.3664800T>A | CA397696910 | P2RX5-TAX1BP3,TAX1BP3 | c.40-2A>T (n.40-2A>T) c.*3397-2A>T (n.*3397-2A>T) n.5095-2A>T | |
17 | g.3664800T>C | CA397696911 | P2RX5-TAX1BP3,TAX1BP3 | c.40-2A>G (n.40-2A>G) c.*3397-2A>G (n.*3397-2A>G) n.5095-2A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664800T>G | CA397696909 | P2RX5-TAX1BP3,TAX1BP3 | c.40-2A>C (n.40-2A>C) c.*3397-2A>C (n.*3397-2A>C) n.5095-2A>C | |
17 | g.3664800T= | CA2243984277 | P2RX5-TAX1BP3,TAX1BP3 | c.40-2A= (n.40-2A=) c.*3397-2A= (n.*3397-2A=) n.5095-2A= | |
17 | g.3664801G>A | CA2576124041 | P2RX5-TAX1BP3,TAX1BP3 | c.40-3C>T (n.40-3C>T) c.*3397-3C>T (n.*3397-3C>T) n.5095-3C>T | |
17 | g.3664801_3664802insACCG | CA2733023733 | P2RX5-TAX1BP3,TAX1BP3 | c.40-3_40-2insGGTC (n.40-3_40-2insGGTC) c.*3397-3_*3397-2insGGTC (n.*3397-3_*3397-2insGGTC) n.5095-3_5095-2insGGTC | dbSNP |
17 | g.3664802G>A | CA2808256894 | P2RX5-TAX1BP3,TAX1BP3 | c.40-4C>T (n.40-4C>T) c.*3397-4C>T (n.*3397-4C>T) n.5095-4C>T | |
17 | g.3664803C>A | CA2635424481 | P2RX5-TAX1BP3,TAX1BP3 | c.40-5G>T (n.40-5G>T) c.*3397-5G>T (n.*3397-5G>T) n.5095-5G>T | gnomAD v4 |
17 | g.3664803C>T | CA2635424482 | P2RX5-TAX1BP3,TAX1BP3 | c.40-5G>A (n.40-5G>A) c.*3397-5G>A (n.*3397-5G>A) n.5095-5G>A | gnomAD v4 |
17 | g.3664804A= | CA2243984293 | P2RX5-TAX1BP3,TAX1BP3 | c.40-6T= (n.40-6T=) c.*3397-6T= (n.*3397-6T=) n.5095-6T= | |
17 | g.3664804A>C | CA8292245 | P2RX5-TAX1BP3,TAX1BP3 | c.40-6T>G (n.40-6T>G) c.*3397-6T>G (n.*3397-6T>G) n.5095-6T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3664804A>G | CA2635424486 | P2RX5-TAX1BP3,TAX1BP3 | c.40-6T>C (n.40-6T>C) c.*3397-6T>C (n.*3397-6T>C) n.5095-6T>C | gnomAD v4 |
17 | g.3664807_3664810del | CA2635424484 | P2RX5-TAX1BP3,TAX1BP3 | c.40-9_40-6del (n.40-9_40-6del) c.*3397-9_*3397-6del (n.*3397-9_*3397-6del) n.5095-9_5095-6del | gnomAD v4 |
17 | g.3664806A= | CA2243984297 | P2RX5-TAX1BP3,TAX1BP3 | c.40-8T= (n.40-8T=) c.*3397-8T= (n.*3397-8T=) n.5095-8T= | |
17 | g.3664806A>G | CA8292246 | P2RX5-TAX1BP3,TAX1BP3 | c.40-8T>C (n.40-8T>C) c.*3397-8T>C (n.*3397-8T>C) n.5095-8T>C | dbSNP ExAC gnomAD v2 |
17 | g.3664807G>A | CA2635424487 | P2RX5-TAX1BP3,TAX1BP3 | c.40-9C>T (n.40-9C>T) c.*3397-9C>T (n.*3397-9C>T) n.5095-9C>T | dbSNP gnomAD v4 |
17 | g.3664807G>C | CA8292247 | P2RX5-TAX1BP3,TAX1BP3 | c.40-9C>G (n.40-9C>G) c.*3397-9C>G (n.*3397-9C>G) n.5095-9C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3664807G= | CA2243984301 | P2RX5-TAX1BP3,TAX1BP3 | c.40-9C= (n.40-9C=) c.*3397-9C= (n.*3397-9C=) n.5095-9C= | |
17 | g.3664807G>T | CA2635424488 | P2RX5-TAX1BP3,TAX1BP3 | c.40-9C>A (n.40-9C>A) c.*3397-9C>A (n.*3397-9C>A) n.5095-9C>A | gnomAD v4 |
17 | g.3664807_3664811delinsGAAAA | CA2243984300 | P2RX5-TAX1BP3,TAX1BP3 | c.40-13_40-9delinsTTTTC (n.40-13_40-9delinsTTTTC) c.*3397-13_*3397-9delinsTTTTC (n.*3397-13_*3397-9delinsTTTTC) n.5095-13_5095-9delinsTTTTC | |
17 | g.3664808A>G | CA2808256895 | P2RX5-TAX1BP3,TAX1BP3 | c.40-10T>C (n.40-10T>C) c.*3397-10T>C (n.*3397-10T>C) n.5095-10T>C | |
17 | g.3664813dup | CA656313937 | P2RX5-TAX1BP3,TAX1BP3 | c.40-10dup (n.40-10dup) c.*3397-10dup (n.*3397-10dup) n.5095-10dup | COSMIC |
17 | g.3664813del | CA624543362 | P2RX5-TAX1BP3,TAX1BP3 | c.40-10del (n.40-10del) c.*3397-10del (n.*3397-10del) n.5095-10del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664811_3664813del | CA2243984304 | P2RX5-TAX1BP3,TAX1BP3 | c.40-12_40-10del (n.40-12_40-10del) c.*3397-12_*3397-10del (n.*3397-12_*3397-10del) n.5095-12_5095-10del | dbSNP |
17 | g.3664810_3664813del | CA728455911 | P2RX5-TAX1BP3,TAX1BP3 | c.40-13_40-10del (n.40-13_40-10del) c.*3397-13_*3397-10del (n.*3397-13_*3397-10del) n.5095-13_5095-10del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3664809A= | CA2243984307 | P2RX5-TAX1BP3,TAX1BP3 | c.40-11T= (n.40-11T=) c.*3397-11T= (n.*3397-11T=) n.5095-11T= | |
17 | g.3664809A>G | CA2243984310 | P2RX5-TAX1BP3,TAX1BP3 | c.40-11T>C (n.40-11T>C) c.*3397-11T>C (n.*3397-11T>C) n.5095-11T>C | dbSNP gnomAD v4 |
17 | g.3664812A= | CA2243984311 | P2RX5-TAX1BP3,TAX1BP3 | c.40-14T= (n.40-14T=) c.*3397-14T= (n.*3397-14T=) n.5095-14T= | |
17 | g.3664812A>T | CA8292248 | P2RX5-TAX1BP3,TAX1BP3 | c.40-14T>A (n.40-14T>A) c.*3397-14T>A (n.*3397-14T>A) n.5095-14T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3664813A= | CA2243984314 | P2RX5-TAX1BP3,TAX1BP3 | c.40-15T= (n.40-15T=) c.*3397-15T= (n.*3397-15T=) n.5095-15T= | |
17 | g.3664813A>C | CA2635424494 | P2RX5-TAX1BP3,TAX1BP3 | c.40-15T>G (n.40-15T>G) c.*3397-15T>G (n.*3397-15T>G) n.5095-15T>G | gnomAD v4 |
17 | g.3664813A>G | CA728455917 | P2RX5-TAX1BP3,TAX1BP3 | c.40-15T>C (n.40-15T>C) c.*3397-15T>C (n.*3397-15T>C) n.5095-15T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3664814G>A | CA2243984321 | P2RX5-TAX1BP3,TAX1BP3 | c.40-16C>T (n.40-16C>T) c.*3397-16C>T (n.*3397-16C>T) n.5095-16C>T | dbSNP gnomAD v4 |
17 | g.3664814G>C | CA728455921 | P2RX5-TAX1BP3,TAX1BP3 | c.40-16C>G (n.40-16C>G) c.*3397-16C>G (n.*3397-16C>G) n.5095-16C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3664814G= | CA2243984318 | P2RX5-TAX1BP3,TAX1BP3 | c.40-16C= (n.40-16C=) c.*3397-16C= (n.*3397-16C=) n.5095-16C= | |
17 | g.3664814G>T | CA624543363 | P2RX5-TAX1BP3,TAX1BP3 | c.40-16C>A (n.40-16C>A) c.*3397-16C>A (n.*3397-16C>A) n.5095-16C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3664815C>A | CA2635424495 | P2RX5-TAX1BP3,TAX1BP3 | c.40-17G>T (n.40-17G>T) c.*3397-17G>T (n.*3397-17G>T) n.5095-17G>T | gnomAD v4 |