UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.37772766C>A | CA370667689 | PLPBP | c.331C>A (p.Leu111Ile) c.*183C>A (n.*183C>A) n.14C>A c.175C>A (p.Leu59Ile) c.88C>A (p.Leu30Ile) c.325C>A (p.Leu109Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772766C= | CA1777240032 | PLPBP | c.331C= (p.Leu111=) c.*183C= (n.*183C=) n.14C= c.175C= (p.Leu59=) c.88C= (p.Leu30=) c.325C= (p.Leu109=) | |
| 8 | g.37772766C>G | CA370667688 | PLPBP | c.331C>G (p.Leu111Val) c.*183C>G (n.*183C>G) n.14C>G c.175C>G (p.Leu59Val) c.88C>G (p.Leu30Val) c.325C>G (p.Leu109Val) | dbSNP |
| 8 | g.37772766C>T | CA4711215 | PLPBP | c.331C>T (p.Leu111Phe) c.*183C>T (n.*183C>T) n.14C>T c.175C>T (p.Leu59Phe) c.88C>T (p.Leu30Phe) c.325C>T (p.Leu109Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772767T>A | CA370667690 | PLPBP | c.332T>A (p.Leu111His) c.*184T>A (n.*184T>A) n.15T>A c.176T>A (p.Leu59His) c.89T>A (p.Leu30His) c.326T>A (p.Leu109His) | |
| 8 | g.37772767T>C | CA370667691 | PLPBP | c.332T>C (p.Leu111Pro) c.*184T>C (n.*184T>C) n.15T>C c.176T>C (p.Leu59Pro) c.89T>C (p.Leu30Pro) c.326T>C (p.Leu109Pro) | |
| 8 | g.37772767T>G | CA370667692 | PLPBP | c.332T>G (p.Leu111Arg) c.*184T>G (n.*184T>G) n.15T>G c.176T>G (p.Leu59Arg) c.89T>G (p.Leu30Arg) c.326T>G (p.Leu109Arg) | |
| 8 | g.37772768C>A | CA460359099 | PLPBP | c.333C>A (p.Leu111=) c.*185C>A (n.*185C>A) n.16C>A c.177C>A (p.Leu59=) c.90C>A (p.Leu30=) c.327C>A (p.Leu109=) | |
| 8 | g.37772768C>G | CA460359100 | PLPBP | c.333C>G (p.Leu111=) c.*185C>G (n.*185C>G) n.16C>G c.177C>G (p.Leu59=) c.90C>G (p.Leu30=) c.327C>G (p.Leu109=) | |
| 8 | g.37772768C>T | CA460359098 | PLPBP | c.333C>T (p.Leu111=) c.*185C>T (n.*185C>T) n.16C>T c.177C>T (p.Leu59=) c.90C>T (p.Leu30=) c.327C>T (p.Leu109=) | |
| 8 | g.37772769T>A | CA370667693 | PLPBP | c.334T>A (p.Phe112Ile) c.*186T>A (n.*186T>A) n.17T>A c.178T>A (p.Phe60Ile) c.91T>A (p.Phe31Ile) c.328T>A (p.Phe110Ile) | |
| 8 | g.37772769T>C | CA370667694 | PLPBP | c.334T>C (p.Phe112Leu) c.*186T>C (n.*186T>C) n.17T>C c.178T>C (p.Phe60Leu) c.91T>C (p.Phe31Leu) c.328T>C (p.Phe110Leu) | |
| 8 | g.37772769T>G | CA370667695 | PLPBP | c.334T>G (p.Phe112Val) c.*186T>G (n.*186T>G) n.17T>G c.178T>G (p.Phe60Val) c.91T>G (p.Phe31Val) c.328T>G (p.Phe110Val) | |
| 8 | g.37772769T= | CA1777240033 | PLPBP | c.334T= (p.Phe112=) c.*186T= (n.*186T=) n.17T= c.178T= (p.Phe60=) c.91T= (p.Phe31=) c.328T= (p.Phe110=) | |
| 8 | g.37772769_37772770insGACTTG | CA1777240034 | PLPBP | c.334_335insGACTTG (p.Phe112Ter) c.*186_*187insGACTTG (n.*186_*187insGACTTG) n.17_18insGACTTG c.178_179insGACTTG (p.Phe60Ter) c.91_92insGACTTG (p.Phe31Ter) c.328_329insGACTTG (p.Phe110Ter) | dbSNP |
| 8 | g.37772770T>A | CA370667696 | PLPBP | c.335T>A (p.Phe112Tyr) c.*187T>A (n.*187T>A) n.18T>A c.179T>A (p.Phe60Tyr) c.92T>A (p.Phe31Tyr) c.329T>A (p.Phe110Tyr) | |
| 8 | g.37772770T>C | CA4711216 | PLPBP | c.335T>C (p.Phe112Ser) c.*187T>C (n.*187T>C) n.18T>C c.179T>C (p.Phe60Ser) c.92T>C (p.Phe31Ser) c.329T>C (p.Phe110Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772770T>G | CA370667697 | PLPBP | c.335T>G (p.Phe112Cys) c.*187T>G (n.*187T>G) n.18T>G c.179T>G (p.Phe60Cys) c.92T>G (p.Phe31Cys) c.329T>G (p.Phe110Cys) | |
| 8 | g.37772770T= | CA1777240035 | PLPBP | c.335T= (p.Phe112=) c.*187T= (n.*187T=) n.18T= c.179T= (p.Phe60=) c.92T= (p.Phe31=) c.329T= (p.Phe110=) | |
| 8 | g.37772771C>A | CA370667698 | PLPBP | c.336C>A (p.Phe112Leu) c.*188C>A (n.*188C>A) n.19C>A c.180C>A (p.Phe60Leu) c.93C>A (p.Phe31Leu) c.330C>A (p.Phe110Leu) | |
| 8 | g.37772771C>G | CA370667699 | PLPBP | c.336C>G (p.Phe112Leu) c.*188C>G (n.*188C>G) n.19C>G c.180C>G (p.Phe60Leu) c.93C>G (p.Phe31Leu) c.330C>G (p.Phe110Leu) | |
| 8 | g.37772771C>T | CA460359102 | PLPBP | c.336C>T (p.Phe112=) c.*188C>T (n.*188C>T) n.19C>T c.180C>T (p.Phe60=) c.93C>T (p.Phe31=) c.330C>T (p.Phe110=) | ClinVar |
| 8 | g.37772772A= | CA1777240036 | PLPBP | c.337A= (p.Met113=) c.*189A= (n.*189A=) n.20A= c.181A= (p.Met61=) c.94A= (p.Met32=) c.331A= (p.Met111=) | |
| 8 | g.37772772A>C | CA370667702 | PLPBP | c.337A>C (p.Met113Leu) c.*189A>C (n.*189A>C) n.20A>C c.181A>C (p.Met61Leu) c.94A>C (p.Met32Leu) c.331A>C (p.Met111Leu) | |
| 8 | g.37772772A>G | CA370667701 | PLPBP | c.337A>G (p.Met113Val) c.*189A>G (n.*189A>G) n.20A>G c.181A>G (p.Met61Val) c.94A>G (p.Met32Val) c.331A>G (p.Met111Val) | dbSNP |
| 8 | g.37772772A>T | CA370667700 | PLPBP | c.337A>T (p.Met113Leu) c.*189A>T (n.*189A>T) n.20A>T c.181A>T (p.Met61Leu) c.94A>T (p.Met32Leu) c.331A>T (p.Met111Leu) | |
| 8 | g.37772773T>A | CA370667703 | PLPBP | c.338T>A (p.Met113Lys) c.*190T>A (n.*190T>A) n.21T>A c.182T>A (p.Met61Lys) c.95T>A (p.Met32Lys) c.332T>A (p.Met111Lys) | |
| 8 | g.37772773T>C | CA370667704 | PLPBP | c.338T>C (p.Met113Thr) c.*190T>C (n.*190T>C) n.21T>C c.182T>C (p.Met61Thr) c.95T>C (p.Met32Thr) c.332T>C (p.Met111Thr) | |
| 8 | g.37772773T>G | CA370667705 | PLPBP | c.338T>G (p.Met113Arg) c.*190T>G (n.*190T>G) n.21T>G c.182T>G (p.Met61Arg) c.95T>G (p.Met32Arg) c.332T>G (p.Met111Arg) | |
| 8 | g.37772774G>A | CA370667706 | PLPBP | c.339G>A (p.Met113Ile) c.*191G>A (n.*191G>A) n.22G>A c.183G>A (p.Met61Ile) c.96G>A (p.Met32Ile) c.333G>A (p.Met111Ile) | |
| 8 | g.37772774G>C | CA370667707 | PLPBP | c.339G>C (p.Met113Ile) c.*191G>C (n.*191G>C) n.22G>C c.183G>C (p.Met61Ile) c.96G>C (p.Met32Ile) c.333G>C (p.Met111Ile) | |
| 8 | g.37772774G>T | CA370667708 | PLPBP | c.339G>T (p.Met113Ile) c.*191G>T (n.*191G>T) n.22G>T c.183G>T (p.Met61Ile) c.96G>T (p.Met32Ile) c.333G>T (p.Met111Ile) | gnomAD v4 |
| 8 | g.37772775C>A | CA4711217 | PLPBP | c.340C>A (p.Leu114Met) c.*192C>A (n.*192C>A) n.23C>A c.184C>A (p.Leu62Met) c.97C>A (p.Leu33Met) c.334C>A (p.Leu112Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772775C= | CA1777240037 | PLPBP | c.340C= (p.Leu114=) c.*192C= (n.*192C=) n.23C= c.184C= (p.Leu62=) c.97C= (p.Leu33=) c.334C= (p.Leu112=) | |
| 8 | g.37772775C>G | CA370667709 | PLPBP | c.340C>G (p.Leu114Val) c.*192C>G (n.*192C>G) n.23C>G c.184C>G (p.Leu62Val) c.97C>G (p.Leu33Val) c.334C>G (p.Leu112Val) | |
| 8 | g.37772775C>T | CA460359103 | PLPBP | c.340C>T (p.Leu114=) c.*192C>T (n.*192C>T) n.23C>T c.184C>T (p.Leu62=) c.97C>T (p.Leu33=) c.334C>T (p.Leu112=) | |
| 8 | g.37772776T>A | CA370667710 | PLPBP | c.341T>A (p.Leu114Gln) c.*193T>A (n.*193T>A) n.24T>A c.185T>A (p.Leu62Gln) c.98T>A (p.Leu33Gln) c.335T>A (p.Leu112Gln) | |
| 8 | g.37772776T>C | CA370667711 | PLPBP | c.341T>C (p.Leu114Pro) c.*193T>C (n.*193T>C) n.24T>C c.185T>C (p.Leu62Pro) c.98T>C (p.Leu33Pro) c.335T>C (p.Leu112Pro) | |
| 8 | g.37772776T>G | CA370667712 | PLPBP | c.341T>G (p.Leu114Arg) c.*193T>G (n.*193T>G) n.24T>G c.185T>G (p.Leu62Arg) c.98T>G (p.Leu33Arg) c.335T>G (p.Leu112Arg) | |
| 8 | g.37772777G>A | CA460359104 | PLPBP | c.342G>A (p.Leu114=) c.*194G>A (n.*194G>A) n.25G>A c.186G>A (p.Leu62=) c.99G>A (p.Leu33=) c.336G>A (p.Leu112=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37772777G>C | CA460359105 | PLPBP | c.342G>C (p.Leu114=) c.*194G>C (n.*194G>C) n.25G>C c.186G>C (p.Leu62=) c.99G>C (p.Leu33=) c.336G>C (p.Leu112=) | |
| 8 | g.37772777G= | CA1777240038 | PLPBP | c.342G= (p.Leu114=) c.*194G= (n.*194G=) n.25G= c.186G= (p.Leu62=) c.99G= (p.Leu33=) c.336G= (p.Leu112=) | |
| 8 | g.37772777G>T | CA460359106 | PLPBP | c.342G>T (p.Leu114=) c.*194G>T (n.*194G>T) n.25G>T c.186G>T (p.Leu62=) c.99G>T (p.Leu33=) c.336G>T (p.Leu112=) | |
| 8 | g.37772778G>A | CA370667713 | PLPBP | c.343G>A (p.Glu115Lys) c.*195G>A (n.*195G>A) n.26G>A c.187G>A (p.Glu63Lys) c.100G>A (p.Glu34Lys) c.337G>A (p.Glu113Lys) | dbSNP |
| 8 | g.37772778G>C | CA370667714 | PLPBP | c.343G>C (p.Glu115Gln) c.*195G>C (n.*195G>C) n.26G>C c.187G>C (p.Glu63Gln) c.100G>C (p.Glu34Gln) c.337G>C (p.Glu113Gln) | |
| 8 | g.37772778G= | CA1777240039 | PLPBP | c.343G= (p.Glu115=) c.*195G= (n.*195G=) n.26G= c.187G= (p.Glu63=) c.100G= (p.Glu34=) c.337G= (p.Glu113=) | |
| 8 | g.37772778G>T | CA370667715 | PLPBP | c.343G>T (p.Glu115Ter) c.*195G>T (n.*195G>T) n.26G>T c.187G>T (p.Glu63Ter) c.100G>T (p.Glu34Ter) c.337G>T (p.Glu113Ter) | |
| 8 | g.37772779A= | CA1777240040 | PLPBP | c.344A= (p.Glu115=) c.*196A= (n.*196A=) n.27A= c.188A= (p.Glu63=) c.101A= (p.Glu34=) c.338A= (p.Glu113=) | |
| 8 | g.37772779A>C | CA370667716 | PLPBP | c.344A>C (p.Glu115Ala) c.*196A>C (n.*196A>C) n.27A>C c.188A>C (p.Glu63Ala) c.101A>C (p.Glu34Ala) c.338A>C (p.Glu113Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37772779A>G | CA370667718 | PLPBP | c.344A>G (p.Glu115Gly) c.*196A>G (n.*196A>G) n.27A>G c.188A>G (p.Glu63Gly) c.101A>G (p.Glu34Gly) c.338A>G (p.Glu113Gly) | |
| 8 | g.37772779A>T | CA370667717 | PLPBP | c.344A>T (p.Glu115Val) c.*196A>T (n.*196A>T) n.27A>T c.188A>T (p.Glu63Val) c.101A>T (p.Glu34Val) c.338A>T (p.Glu113Val) | |
| 8 | g.37772780A>C | CA370667719 | PLPBP | c.345A>C (p.Glu115Asp) c.*197A>C (n.*197A>C) n.28A>C c.189A>C (p.Glu63Asp) c.102A>C (p.Glu34Asp) c.339A>C (p.Glu113Asp) | |
| 8 | g.37772780A>G | CA460359107 | PLPBP | c.345A>G (p.Glu115=) c.*197A>G (n.*197A>G) n.28A>G c.189A>G (p.Glu63=) c.102A>G (p.Glu34=) c.339A>G (p.Glu113=) | |
| 8 | g.37772780A>T | CA370667720 | PLPBP | c.345A>T (p.Glu115Asp) c.*197A>T (n.*197A>T) n.28A>T c.189A>T (p.Glu63Asp) c.102A>T (p.Glu34Asp) c.339A>T (p.Glu113Asp) | |
| 8 | g.37772781A>C | CA370667721 | PLPBP | c.346A>C (p.Thr116Pro) c.*198A>C (n.*198A>C) n.29A>C c.190A>C (p.Thr64Pro) c.103A>C (p.Thr35Pro) c.340A>C (p.Thr114Pro) | |
| 8 | g.37772781A>G | CA370667722 | PLPBP | c.346A>G (p.Thr116Ala) c.*198A>G (n.*198A>G) n.29A>G c.190A>G (p.Thr64Ala) c.103A>G (p.Thr35Ala) c.340A>G (p.Thr114Ala) | gnomAD v4 |
| 8 | g.37772781A>T | CA370667723 | PLPBP | c.346A>T (p.Thr116Ser) c.*198A>T (n.*198A>T) n.29A>T c.190A>T (p.Thr64Ser) c.103A>T (p.Thr35Ser) c.340A>T (p.Thr114Ser) | gnomAD v4 |
| 8 | g.37772782C>A | CA370667724 | PLPBP | c.347C>A (p.Thr116Lys) c.*199C>A (n.*199C>A) n.30C>A c.191C>A (p.Thr64Lys) c.104C>A (p.Thr35Lys) c.341C>A (p.Thr114Lys) | |
| 8 | g.37772782C= | CA1777240041 | PLPBP | c.347C= (p.Thr116=) c.*199C= (n.*199C=) n.30C= c.191C= (p.Thr64=) c.104C= (p.Thr35=) c.341C= (p.Thr114=) | |
| 8 | g.37772782C>G | CA370667725 | PLPBP | c.347C>G (p.Thr116Arg) c.*199C>G (n.*199C>G) n.30C>G c.191C>G (p.Thr64Arg) c.104C>G (p.Thr35Arg) c.341C>G (p.Thr114Arg) | |
| 8 | g.37772782C>T | CA370667726 | PLPBP | c.347C>T (p.Thr116Ile) c.*199C>T (n.*199C>T) n.30C>T c.191C>T (p.Thr64Ile) c.104C>T (p.Thr35Ile) c.341C>T (p.Thr114Ile) | ClinVar dbSNP |
| 8 | g.37772783A>C | CA460359108 | PLPBP | c.348A>C (p.Thr116=) c.*200A>C (n.*200A>C) n.31A>C c.192A>C (p.Thr64=) c.105A>C (p.Thr35=) c.342A>C (p.Thr114=) | |
| 8 | g.37772783A>G | CA460359109 | PLPBP | c.348A>G (p.Thr116=) c.*200A>G (n.*200A>G) n.31A>G c.192A>G (p.Thr64=) c.105A>G (p.Thr35=) c.342A>G (p.Thr114=) | |
| 8 | g.37772783A>T | CA460359110 | PLPBP | c.348A>T (p.Thr116=) c.*200A>T (n.*200A>T) n.31A>T c.192A>T (p.Thr64=) c.105A>T (p.Thr35=) c.342A>T (p.Thr114=) | gnomAD v4 |
| 8 | g.37772783_37772784del | CA2686900863 | PLPBP | c.348_349del (p.Val117GlyfsTer20) c.*200_*201del (n.*200_*201del) n.31_32del c.192_193del (p.Val65GlyfsTer20) c.105_106del (p.Val36GlyfsTer20) c.342_343del (p.Val115GlyfsTer20) | gnomAD v4 |
| 8 | g.37772784G>A | CA370667727 | PLPBP | c.349G>A (p.Val117Met) c.*201G>A (n.*201G>A) n.32G>A c.193G>A (p.Val65Met) c.106G>A (p.Val36Met) c.343G>A (p.Val115Met) | |
| 8 | g.37772784G>C | CA370667728 | PLPBP | c.349G>C (p.Val117Leu) c.*201G>C (n.*201G>C) n.32G>C c.193G>C (p.Val65Leu) c.106G>C (p.Val36Leu) c.343G>C (p.Val115Leu) | |
| 8 | g.37772784G>T | CA370667729 | PLPBP | c.349G>T (p.Val117Leu) c.*201G>T (n.*201G>T) n.32G>T c.193G>T (p.Val65Leu) c.106G>T (p.Val36Leu) c.343G>T (p.Val115Leu) | |
| 8 | g.37772785T>A | CA370667730 | PLPBP | c.350T>A (p.Val117Glu) c.*202T>A (n.*202T>A) n.33T>A c.194T>A (p.Val65Glu) c.107T>A (p.Val36Glu) c.344T>A (p.Val115Glu) | |
| 8 | g.37772785T>C | CA370667732 | PLPBP | c.350T>C (p.Val117Ala) c.*202T>C (n.*202T>C) n.33T>C c.194T>C (p.Val65Ala) c.107T>C (p.Val36Ala) c.344T>C (p.Val115Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37772785T>G | CA370667731 | PLPBP | c.350T>G (p.Val117Gly) c.*202T>G (n.*202T>G) n.33T>G c.194T>G (p.Val65Gly) c.107T>G (p.Val36Gly) c.344T>G (p.Val115Gly) | |
| 8 | g.37772785T= | CA1777240042 | PLPBP | c.350T= (p.Val117=) c.*202T= (n.*202T=) n.33T= c.194T= (p.Val65=) c.107T= (p.Val36=) c.344T= (p.Val115=) | |
| 8 | g.37772786G>A | CA460359111 | PLPBP | c.351G>A (p.Val117=) c.*203G>A (n.*203G>A) n.34G>A c.195G>A (p.Val65=) c.108G>A (p.Val36=) c.345G>A (p.Val115=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37772786G>C | CA460359112 | PLPBP | c.351G>C (p.Val117=) c.*203G>C (n.*203G>C) n.34G>C c.195G>C (p.Val65=) c.108G>C (p.Val36=) c.345G>C (p.Val115=) | |
| 8 | g.37772786G= | CA1777240043 | PLPBP | c.351G= (p.Val117=) c.*203G= (n.*203G=) n.34G= c.195G= (p.Val65=) c.108G= (p.Val36=) c.345G= (p.Val115=) | |
| 8 | g.37772786G>T | CA460359113 | PLPBP | c.351G>T (p.Val117=) c.*203G>T (n.*203G>T) n.34G>T c.195G>T (p.Val65=) c.108G>T (p.Val36=) c.345G>T (p.Val115=) | |
| 8 | g.37772787G>A | CA370667733 | PLPBP | c.352G>A (p.Asp118Asn) c.*204G>A (n.*204G>A) n.35G>A c.196G>A (p.Asp66Asn) c.109G>A (p.Asp37Asn) c.346G>A (p.Asp116Asn) | COSMIC |
| 8 | g.37772787G>C | CA370667735 | PLPBP | c.352G>C (p.Asp118His) c.*204G>C (n.*204G>C) n.35G>C c.196G>C (p.Asp66His) c.109G>C (p.Asp37His) c.346G>C (p.Asp116His) | |
| 8 | g.37772787G>T | CA370667734 | PLPBP | c.352G>T (p.Asp118Tyr) c.*204G>T (n.*204G>T) n.35G>T c.196G>T (p.Asp66Tyr) c.109G>T (p.Asp37Tyr) c.346G>T (p.Asp116Tyr) | |
| 8 | g.37772788A>C | CA370667736 | PLPBP | c.353A>C (p.Asp118Ala) c.*205A>C (n.*205A>C) n.36A>C c.197A>C (p.Asp66Ala) c.110A>C (p.Asp37Ala) c.347A>C (p.Asp116Ala) | gnomAD v4 |
| 8 | g.37772788A>G | CA370667738 | PLPBP | c.353A>G (p.Asp118Gly) c.*205A>G (n.*205A>G) n.36A>G c.197A>G (p.Asp66Gly) c.110A>G (p.Asp37Gly) c.347A>G (p.Asp116Gly) | gnomAD v4 |
| 8 | g.37772788A>T | CA370667737 | PLPBP | c.353A>T (p.Asp118Val) c.*205A>T (n.*205A>T) n.36A>T c.197A>T (p.Asp66Val) c.110A>T (p.Asp37Val) c.347A>T (p.Asp116Val) | |
| 8 | g.37772789T>A | CA370667739 | PLPBP | c.354T>A (p.Asp118Glu) c.*206T>A (n.*206T>A) n.37T>A c.198T>A (p.Asp66Glu) c.111T>A (p.Asp37Glu) c.348T>A (p.Asp116Glu) | |
| 8 | g.37772789T>C | CA460359114 | PLPBP | c.354T>C (p.Asp118=) c.*206T>C (n.*206T>C) n.37T>C c.198T>C (p.Asp66=) c.111T>C (p.Asp37=) c.348T>C (p.Asp116=) | COSMIC |
| 8 | g.37772789T>G | CA370667740 | PLPBP | c.354T>G (p.Asp118Glu) c.*206T>G (n.*206T>G) n.37T>G c.198T>G (p.Asp66Glu) c.111T>G (p.Asp37Glu) c.348T>G (p.Asp116Glu) | |
| 8 | g.37772790T>A | CA370667741 | PLPBP | c.355T>A (p.Ser119Thr) c.*207T>A (n.*207T>A) n.38T>A c.199T>A (p.Ser67Thr) c.112T>A (p.Ser38Thr) c.349T>A (p.Ser117Thr) | |
| 8 | g.37772790T>C | CA370667743 | PLPBP | c.355T>C (p.Ser119Pro) c.*207T>C (n.*207T>C) n.38T>C c.199T>C (p.Ser67Pro) c.112T>C (p.Ser38Pro) c.349T>C (p.Ser117Pro) | |
| 8 | g.37772790T>G | CA370667742 | PLPBP | c.355T>G (p.Ser119Ala) c.*207T>G (n.*207T>G) n.38T>G c.199T>G (p.Ser67Ala) c.112T>G (p.Ser38Ala) c.349T>G (p.Ser117Ala) | |
| 8 | g.37772791C>A | CA370667744 | PLPBP | c.356C>A (p.Ser119Tyr) c.*208C>A (n.*208C>A) n.39C>A c.200C>A (p.Ser67Tyr) c.113C>A (p.Ser38Tyr) c.350C>A (p.Ser117Tyr) | |
| 8 | g.37772791C>G | CA370667745 | PLPBP | c.356C>G (p.Ser119Cys) c.*208C>G (n.*208C>G) n.39C>G c.200C>G (p.Ser67Cys) c.113C>G (p.Ser38Cys) c.350C>G (p.Ser117Cys) | |
| 8 | g.37772791C>T | CA370667746 | PLPBP | c.356C>T (p.Ser119Phe) c.*208C>T (n.*208C>T) n.39C>T c.200C>T (p.Ser67Phe) c.113C>T (p.Ser38Phe) c.350C>T (p.Ser117Phe) | |
| 8 | g.37772792T>A | CA460359115 | PLPBP | c.357T>A (p.Ser119=) c.*209T>A (n.*209T>A) n.40T>A c.201T>A (p.Ser67=) c.114T>A (p.Ser38=) c.351T>A (p.Ser117=) | |
| 8 | g.37772792T>C | CA460359116 | PLPBP | c.357T>C (p.Ser119=) c.*209T>C (n.*209T>C) n.40T>C c.201T>C (p.Ser67=) c.114T>C (p.Ser38=) c.351T>C (p.Ser117=) | |
| 8 | g.37772792T>G | CA460359117 | PLPBP | c.357T>G (p.Ser119=) c.*209T>G (n.*209T>G) n.40T>G c.201T>G (p.Ser67=) c.114T>G (p.Ser38=) c.351T>G (p.Ser117=) | |
| 8 | g.37772793G>A | CA370667747 | PLPBP | c.358G>A (p.Val120Met) c.*210G>A (n.*210G>A) n.41G>A c.202G>A (p.Val68Met) c.115G>A (p.Val39Met) c.352G>A (p.Val118Met) | |
| 8 | g.37772793G>C | CA370667748 | PLPBP | c.358G>C (p.Val120Leu) c.*210G>C (n.*210G>C) n.41G>C c.202G>C (p.Val68Leu) c.115G>C (p.Val39Leu) c.352G>C (p.Val118Leu) | |
| 8 | g.37772793G>T | CA370667749 | PLPBP | c.358G>T (p.Val120Leu) c.*210G>T (n.*210G>T) n.41G>T c.202G>T (p.Val68Leu) c.115G>T (p.Val39Leu) c.352G>T (p.Val118Leu) | |
| 8 | g.37772794T>A | CA370667750 | PLPBP | c.359T>A (p.Val120Glu) c.*211T>A (n.*211T>A) n.42T>A c.203T>A (p.Val68Glu) c.116T>A (p.Val39Glu) c.353T>A (p.Val118Glu) | |
| 8 | g.37772794T>C | CA370667751 | PLPBP | c.359T>C (p.Val120Ala) c.*211T>C (n.*211T>C) n.42T>C c.203T>C (p.Val68Ala) c.116T>C (p.Val39Ala) c.353T>C (p.Val118Ala) | |
| 8 | g.37772794T>G | CA370667752 | PLPBP | c.359T>G (p.Val120Gly) c.*211T>G (n.*211T>G) n.42T>G c.203T>G (p.Val68Gly) c.116T>G (p.Val39Gly) c.353T>G (p.Val118Gly) | |
| 8 | g.37772795G>A | CA460359120 | PLPBP | c.360G>A (p.Val120=) c.*212G>A (n.*212G>A) n.43G>A c.204G>A (p.Val68=) c.117G>A (p.Val39=) c.354G>A (p.Val118=) | |
| 8 | g.37772795G>C | CA460359119 | PLPBP | c.360G>C (p.Val120=) c.*212G>C (n.*212G>C) n.43G>C c.204G>C (p.Val68=) c.117G>C (p.Val39=) c.354G>C (p.Val118=) | |
| 8 | g.37772795G>T | CA460359118 | PLPBP | c.360G>T (p.Val120=) c.*212G>T (n.*212G>T) n.43G>T c.204G>T (p.Val68=) c.117G>T (p.Val39=) c.354G>T (p.Val118=) | |
| 8 | g.37772796A= | CA1777240044 | PLPBP | c.361A= (p.Lys121=) c.*213A= (n.*213A=) n.44A= c.205A= (p.Lys69=) c.118A= (p.Lys40=) c.355A= (p.Lys119=) | |
| 8 | g.37772796A>C | CA4711218 | PLPBP | c.361A>C (p.Lys121Gln) c.*213A>C (n.*213A>C) n.44A>C c.205A>C (p.Lys69Gln) c.118A>C (p.Lys40Gln) c.355A>C (p.Lys119Gln) | dbSNP ExAC |
| 8 | g.37772796A>G | CA370667753 | PLPBP | c.361A>G (p.Lys121Glu) c.*213A>G (n.*213A>G) n.44A>G c.205A>G (p.Lys69Glu) c.118A>G (p.Lys40Glu) c.355A>G (p.Lys119Glu) | |
| 8 | g.37772796A>T | CA370667754 | PLPBP | c.361A>T (p.Lys121Ter) c.*213A>T (n.*213A>T) n.44A>T c.205A>T (p.Lys69Ter) c.118A>T (p.Lys40Ter) c.355A>T (p.Lys119Ter) | |
| 8 | g.37772797A= | CA1777240045 | PLPBP | c.362A= (p.Lys121=) c.*214A= (n.*214A=) n.45A= c.206A= (p.Lys69=) c.119A= (p.Lys40=) c.356A= (p.Lys119=) | |
| 8 | g.37772797A>C | CA370667755 | PLPBP | c.362A>C (p.Lys121Thr) c.*214A>C (n.*214A>C) n.45A>C c.206A>C (p.Lys69Thr) c.119A>C (p.Lys40Thr) c.356A>C (p.Lys119Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37772797A>G | CA4711219 | PLPBP | c.362A>G (p.Lys121Arg) c.*214A>G (n.*214A>G) n.45A>G c.206A>G (p.Lys69Arg) c.119A>G (p.Lys40Arg) c.356A>G (p.Lys119Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772797A>T | CA370667756 | PLPBP | c.362A>T (p.Lys121Met) c.*214A>T (n.*214A>T) n.45A>T c.206A>T (p.Lys69Met) c.119A>T (p.Lys40Met) c.356A>T (p.Lys119Met) | |
| 8 | g.37772798G>A | CA460359121 | PLPBP | c.363G>A (p.Lys121=) c.*215G>A (n.*215G>A) n.46G>A c.207G>A (p.Lys69=) c.120G>A (p.Lys40=) c.357G>A (p.Lys119=) | |
| 8 | g.37772798G>C | CA370667757 | PLPBP | c.363G>C (p.Lys121Asn) c.*215G>C (n.*215G>C) n.46G>C c.207G>C (p.Lys69Asn) c.120G>C (p.Lys40Asn) c.357G>C (p.Lys119Asn) | |
| 8 | g.37772798G>T | CA370667758 | PLPBP | c.363G>T (p.Lys121Asn) c.*215G>T (n.*215G>T) n.46G>T c.207G>T (p.Lys69Asn) c.120G>T (p.Lys40Asn) c.357G>T (p.Lys119Asn) | |
| 8 | g.37772799T>A | CA370667759 | PLPBP | c.364T>A (p.Leu122Met) c.*216T>A (n.*216T>A) n.47T>A c.208T>A (p.Leu70Met) c.121T>A (p.Leu41Met) c.358T>A (p.Leu120Met) | |
| 8 | g.37772799T>C | CA460359122 | PLPBP | c.364T>C (p.Leu122=) c.*216T>C (n.*216T>C) n.47T>C c.208T>C (p.Leu70=) c.121T>C (p.Leu41=) c.358T>C (p.Leu120=) | gnomAD v4 |
| 8 | g.37772799T>G | CA370667760 | PLPBP | c.364T>G (p.Leu122Val) c.*216T>G (n.*216T>G) n.47T>G c.208T>G (p.Leu70Val) c.121T>G (p.Leu41Val) c.358T>G (p.Leu120Val) | gnomAD v4 |
| 8 | g.37772800T>A | CA4711220 | PLPBP | c.365T>A (p.Leu122Ter) c.*217T>A (n.*217T>A) n.48T>A c.209T>A (p.Leu70Ter) c.122T>A (p.Leu41Ter) c.359T>A (p.Leu120Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772800T>C | CA370667761 | PLPBP | c.365T>C (p.Leu122Ser) c.*217T>C (n.*217T>C) n.48T>C c.209T>C (p.Leu70Ser) c.122T>C (p.Leu41Ser) c.359T>C (p.Leu120Ser) | |
| 8 | g.37772800T>G | CA370667762 | PLPBP | c.365T>G (p.Leu122Trp) c.*217T>G (n.*217T>G) n.48T>G c.209T>G (p.Leu70Trp) c.122T>G (p.Leu41Trp) c.359T>G (p.Leu120Trp) | |
| 8 | g.37772800T= | CA1777240046 | PLPBP | c.365T= (p.Leu122=) c.*217T= (n.*217T=) n.48T= c.209T= (p.Leu70=) c.122T= (p.Leu41=) c.359T= (p.Leu120=) | |
| 8 | g.37772801G>A | CA460359123 | PLPBP | c.366G>A (p.Leu122=) c.*218G>A (n.*218G>A) n.49G>A c.210G>A (p.Leu70=) c.123G>A (p.Leu41=) c.360G>A (p.Leu120=) | |
| 8 | g.37772801G>C | CA370667763 | PLPBP | c.366G>C (p.Leu122Phe) c.*218G>C (n.*218G>C) n.49G>C c.210G>C (p.Leu70Phe) c.123G>C (p.Leu41Phe) c.360G>C (p.Leu120Phe) | |
| 8 | g.37772801G>T | CA370667764 | PLPBP | c.366G>T (p.Leu122Phe) c.*218G>T (n.*218G>T) n.49G>T c.210G>T (p.Leu70Phe) c.123G>T (p.Leu41Phe) c.360G>T (p.Leu120Phe) | |
| 8 | g.37772802G>A | CA370667766 | PLPBP | c.367G>A (p.Ala123Thr) c.*219G>A (n.*219G>A) n.50G>A c.211G>A (p.Ala71Thr) c.124G>A (p.Ala42Thr) c.361G>A (p.Ala121Thr) | COSMIC |
| 8 | g.37772802G>C | CA370667767 | PLPBP | c.367G>C (p.Ala123Pro) c.*219G>C (n.*219G>C) n.50G>C c.211G>C (p.Ala71Pro) c.124G>C (p.Ala42Pro) c.361G>C (p.Ala121Pro) | |
| 8 | g.37772802G>T | CA370667765 | PLPBP | c.367G>T (p.Ala123Ser) c.*219G>T (n.*219G>T) n.50G>T c.211G>T (p.Ala71Ser) c.124G>T (p.Ala42Ser) c.361G>T (p.Ala121Ser) | |
| 8 | g.37772802_37772806delinsGCAGA | CA1777240047 | PLPBP | c.367_371delinsGCAGA (p.Ala123=) c.*219_*223delinsGCAGA (n.*219_*223delinsGCAGA) n.50_54delinsGCAGA c.211_215delinsGCAGA (p.Ala71=) c.124_128delinsGCAGA (p.Ala42=) c.361_365delinsGCAGA (p.Ala121=) | |
| 8 | g.37772803C>A | CA4711222 | PLPBP | c.368C>A (p.Ala123Glu) c.*220C>A (n.*220C>A) n.51C>A c.212C>A (p.Ala71Glu) c.125C>A (p.Ala42Glu) c.362C>A (p.Ala121Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772803C= | CA1777240048 | PLPBP | c.368C= (p.Ala123=) c.*220C= (n.*220C=) n.51C= c.212C= (p.Ala71=) c.125C= (p.Ala42=) c.362C= (p.Ala121=) | |
| 8 | g.37772803C>G | CA370667768 | PLPBP | c.368C>G (p.Ala123Gly) c.*220C>G (n.*220C>G) n.51C>G c.212C>G (p.Ala71Gly) c.125C>G (p.Ala42Gly) c.362C>G (p.Ala121Gly) | |
| 8 | g.37772803C>T | CA370667769 | PLPBP | c.368C>T (p.Ala123Val) c.*220C>T (n.*220C>T) n.51C>T c.212C>T (p.Ala71Val) c.125C>T (p.Ala42Val) c.362C>T (p.Ala121Val) | COSMIC |
| 8 | g.37772805_37772808del | CA4711221 | PLPBP | c.370_373del (p.Asp124LysfsTer2) c.*222_*225del (n.*222_*225del) n.53_56del c.214_217del (p.Asp72LysfsTer2) c.127_130del (p.Asp43LysfsTer2) c.364_367del (p.Asp122LysfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772804A>C | CA460359124 | PLPBP | c.369A>C (p.Ala123=) c.*221A>C (n.*221A>C) n.52A>C c.213A>C (p.Ala71=) c.126A>C (p.Ala42=) c.363A>C (p.Ala121=) | |
| 8 | g.37772804A>G | CA460359125 | PLPBP | c.369A>G (p.Ala123=) c.*221A>G (n.*221A>G) n.52A>G c.213A>G (p.Ala71=) c.126A>G (p.Ala42=) c.363A>G (p.Ala121=) | |
| 8 | g.37772804A>T | CA460359126 | PLPBP | c.369A>T (p.Ala123=) c.*221A>T (n.*221A>T) n.52A>T c.213A>T (p.Ala71=) c.126A>T (p.Ala42=) c.363A>T (p.Ala121=) | |
| 8 | g.37772805G>A | CA370667770 | PLPBP | c.370G>A (p.Asp124Asn) c.*222G>A (n.*222G>A) n.53G>A c.214G>A (p.Asp72Asn) c.127G>A (p.Asp43Asn) c.364G>A (p.Asp122Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772805G>C | CA370667771 | PLPBP | c.370G>C (p.Asp124His) c.*222G>C (n.*222G>C) n.53G>C c.214G>C (p.Asp72His) c.127G>C (p.Asp43His) c.364G>C (p.Asp122His) | |
| 8 | g.37772805G= | CA1777240049 | PLPBP | c.370G= (p.Asp124=) c.*222G= (n.*222G=) n.53G= c.214G= (p.Asp72=) c.127G= (p.Asp43=) c.364G= (p.Asp122=) | |
| 8 | g.37772805G>T | CA370667772 | PLPBP | c.370G>T (p.Asp124Tyr) c.*222G>T (n.*222G>T) n.53G>T c.214G>T (p.Asp72Tyr) c.127G>T (p.Asp43Tyr) c.364G>T (p.Asp122Tyr) | |
| 8 | g.37772806A>C | CA370667773 | PLPBP | c.371A>C (p.Asp124Ala) c.*223A>C (n.*223A>C) n.54A>C c.215A>C (p.Asp72Ala) c.128A>C (p.Asp43Ala) c.365A>C (p.Asp122Ala) | gnomAD v4 |
| 8 | g.37772806A>G | CA370667774 | PLPBP | c.371A>G (p.Asp124Gly) c.*223A>G (n.*223A>G) n.54A>G c.215A>G (p.Asp72Gly) c.128A>G (p.Asp43Gly) c.365A>G (p.Asp122Gly) | |
| 8 | g.37772806A>T | CA370667775 | PLPBP | c.371A>T (p.Asp124Val) c.*223A>T (n.*223A>T) n.54A>T c.215A>T (p.Asp72Val) c.128A>T (p.Asp43Val) c.365A>T (p.Asp122Val) | |
| 8 | g.37772807C>A | CA370667776 | PLPBP | c.372C>A (p.Asp124Glu) c.*224C>A (n.*224C>A) n.55C>A c.216C>A (p.Asp72Glu) c.129C>A (p.Asp43Glu) c.366C>A (p.Asp122Glu) | |
| 8 | g.37772807C>G | CA370667777 | PLPBP | c.372C>G (p.Asp124Glu) c.*224C>G (n.*224C>G) n.55C>G c.216C>G (p.Asp72Glu) c.129C>G (p.Asp43Glu) c.366C>G (p.Asp122Glu) | |
| 8 | g.37772807C>T | CA460359127 | PLPBP | c.372C>T (p.Asp124=) c.*224C>T (n.*224C>T) n.55C>T c.216C>T (p.Asp72=) c.129C>T (p.Asp43=) c.366C>T (p.Asp122=) | |
| 8 | g.37772808A>C | CA370667780 | PLPBP | c.373A>C (p.Lys125Gln) c.*225A>C (n.*225A>C) n.56A>C c.217A>C (p.Lys73Gln) c.130A>C (p.Lys44Gln) c.367A>C (p.Lys123Gln) | |
| 8 | g.37772808A>G | CA370667779 | PLPBP | c.373A>G (p.Lys125Glu) c.*225A>G (n.*225A>G) n.56A>G c.217A>G (p.Lys73Glu) c.130A>G (p.Lys44Glu) c.367A>G (p.Lys123Glu) | |
| 8 | g.37772808A>T | CA370667778 | PLPBP | c.373A>T (p.Lys125Ter) c.*225A>T (n.*225A>T) n.56A>T c.217A>T (p.Lys73Ter) c.130A>T (p.Lys44Ter) c.367A>T (p.Lys123Ter) | |
| 8 | g.37772809A>C | CA370667781 | PLPBP | c.374A>C (p.Lys125Thr) c.*226A>C (n.*226A>C) n.57A>C c.218A>C (p.Lys73Thr) c.131A>C (p.Lys44Thr) c.368A>C (p.Lys123Thr) | |
| 8 | g.37772809A>G | CA370667782 | PLPBP | c.374A>G (p.Lys125Arg) c.*226A>G (n.*226A>G) n.57A>G c.218A>G (p.Lys73Arg) c.131A>G (p.Lys44Arg) c.368A>G (p.Lys123Arg) | |
| 8 | g.37772809A>T | CA370667783 | PLPBP | c.374A>T (p.Lys125Ile) c.*226A>T (n.*226A>T) n.57A>T c.218A>T (p.Lys73Ile) c.131A>T (p.Lys44Ile) c.368A>T (p.Lys123Ile) | |
| 8 | g.37772810A>C | CA370667784 | PLPBP | c.375A>C (p.Lys125Asn) c.*227A>C (n.*227A>C) n.58A>C c.219A>C (p.Lys73Asn) c.132A>C (p.Lys44Asn) c.369A>C (p.Lys123Asn) | |
| 8 | g.37772810A>G | CA460359128 | PLPBP | c.375A>G (p.Lys125=) c.*227A>G (n.*227A>G) n.58A>G c.219A>G (p.Lys73=) c.132A>G (p.Lys44=) c.369A>G (p.Lys123=) | |
| 8 | g.37772810A>T | CA370667785 | PLPBP | c.375A>T (p.Lys125Asn) c.*227A>T (n.*227A>T) n.58A>T c.219A>T (p.Lys73Asn) c.132A>T (p.Lys44Asn) c.369A>T (p.Lys123Asn) | |
| 8 | g.37772811G>A | CA370667786 | PLPBP | c.376G>A (p.Val126Met) c.*228G>A (n.*228G>A) n.59G>A c.220G>A (p.Val74Met) c.133G>A (p.Val45Met) c.370G>A (p.Val124Met) | |
| 8 | g.37772811G>C | CA370667787 | PLPBP | c.376G>C (p.Val126Leu) c.*228G>C (n.*228G>C) n.59G>C c.220G>C (p.Val74Leu) c.133G>C (p.Val45Leu) c.370G>C (p.Val124Leu) | |
| 8 | g.37772811G>T | CA370667788 | PLPBP | c.376G>T (p.Val126Leu) c.*228G>T (n.*228G>T) n.59G>T c.220G>T (p.Val74Leu) c.133G>T (p.Val45Leu) c.370G>T (p.Val124Leu) | |
| 8 | g.37772812T>A | CA370667789 | PLPBP | c.377T>A (p.Val126Glu) c.*229T>A (n.*229T>A) n.60T>A c.221T>A (p.Val74Glu) c.134T>A (p.Val45Glu) c.371T>A (p.Val124Glu) | |
| 8 | g.37772812T>C | CA370667790 | PLPBP | c.377T>C (p.Val126Ala) c.*229T>C (n.*229T>C) n.60T>C c.221T>C (p.Val74Ala) c.134T>C (p.Val45Ala) c.371T>C (p.Val124Ala) | |
| 8 | g.37772812T>G | CA370667791 | PLPBP | c.377T>G (p.Val126Gly) c.*229T>G (n.*229T>G) n.60T>G c.221T>G (p.Val74Gly) c.134T>G (p.Val45Gly) c.371T>G (p.Val124Gly) | |
| 8 | g.37772813G>A | CA4711223 | PLPBP | c.378G>A (p.Val126=) c.*230G>A (n.*230G>A) n.61G>A c.222G>A (p.Val74=) c.135G>A (p.Val45=) c.372G>A (p.Val124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772813G>C | CA460359129 | PLPBP | c.378G>C (p.Val126=) c.*230G>C (n.*230G>C) n.61G>C c.222G>C (p.Val74=) c.135G>C (p.Val45=) c.372G>C (p.Val124=) | |
| 8 | g.37772813G= | CA1777240050 | PLPBP | c.378G= (p.Val126=) c.*230G= (n.*230G=) n.61G= c.222G= (p.Val74=) c.135G= (p.Val45=) c.372G= (p.Val124=) | |
| 8 | g.37772813G>T | CA460359130 | PLPBP | c.378G>T (p.Val126=) c.*230G>T (n.*230G>T) n.61G>T c.222G>T (p.Val74=) c.135G>T (p.Val45=) c.372G>T (p.Val124=) | |
| 8 | g.37772814A>C | CA370667794 | PLPBP | c.379A>C (p.Asn127His) c.*231A>C (n.*231A>C) n.62A>C c.223A>C (p.Asn75His) c.136A>C (p.Asn46His) c.373A>C (p.Asn125His) | |
| 8 | g.37772814A>G | CA370667793 | PLPBP | c.379A>G (p.Asn127Asp) c.*231A>G (n.*231A>G) n.62A>G c.223A>G (p.Asn75Asp) c.136A>G (p.Asn46Asp) c.373A>G (p.Asn125Asp) | |
| 8 | g.37772814A>T | CA370667792 | PLPBP | c.379A>T (p.Asn127Tyr) c.*231A>T (n.*231A>T) n.62A>T c.223A>T (p.Asn75Tyr) c.136A>T (p.Asn46Tyr) c.373A>T (p.Asn125Tyr) | |
| 8 | g.37772815A>C | CA370667795 | PLPBP | c.380A>C (p.Asn127Thr) c.*232A>C (n.*232A>C) n.63A>C c.224A>C (p.Asn75Thr) c.137A>C (p.Asn46Thr) c.374A>C (p.Asn125Thr) | |
| 8 | g.37772815A>G | CA370667797 | PLPBP | c.380A>G (p.Asn127Ser) c.*232A>G (n.*232A>G) n.63A>G c.224A>G (p.Asn75Ser) c.137A>G (p.Asn46Ser) c.374A>G (p.Asn125Ser) | |
| 8 | g.37772815A>T | CA370667796 | PLPBP | c.380A>T (p.Asn127Ile) c.*232A>T (n.*232A>T) n.63A>T c.224A>T (p.Asn75Ile) c.137A>T (p.Asn46Ile) c.374A>T (p.Asn125Ile) | |
| 8 | g.37772816C>A | CA370667798 | PLPBP | c.381C>A (p.Asn127Lys) c.*233C>A (n.*233C>A) n.64C>A c.225C>A (p.Asn75Lys) c.138C>A (p.Asn46Lys) c.375C>A (p.Asn125Lys) | |
| 8 | g.37772816C>G | CA370667799 | PLPBP | c.381C>G (p.Asn127Lys) c.*233C>G (n.*233C>G) n.64C>G c.225C>G (p.Asn75Lys) c.138C>G (p.Asn46Lys) c.375C>G (p.Asn125Lys) | |
| 8 | g.37772816C>T | CA460359131 | PLPBP | c.381C>T (p.Asn127=) c.*233C>T (n.*233C>T) n.64C>T c.225C>T (p.Asn75=) c.138C>T (p.Asn46=) c.375C>T (p.Asn125=) | |
| 8 | g.37772817A>C | CA370667800 | PLPBP | c.382A>C (p.Ser128Arg) c.*234A>C (n.*234A>C) n.65A>C c.226A>C (p.Ser76Arg) c.139A>C (p.Ser47Arg) c.376A>C (p.Ser126Arg) | |
| 8 | g.37772817A>G | CA370667801 | PLPBP | c.382A>G (p.Ser128Gly) c.*234A>G (n.*234A>G) n.65A>G c.226A>G (p.Ser76Gly) c.139A>G (p.Ser47Gly) c.376A>G (p.Ser126Gly) | |
| 8 | g.37772817A>T | CA370667802 | PLPBP | c.382A>T (p.Ser128Cys) c.*234A>T (n.*234A>T) n.65A>T c.226A>T (p.Ser76Cys) c.139A>T (p.Ser47Cys) c.376A>T (p.Ser126Cys) | |
| 8 | g.37772818G>A | CA4711224 | PLPBP | c.383G>A (p.Ser128Asn) c.*235G>A (n.*235G>A) n.66G>A c.227G>A (p.Ser76Asn) c.140G>A (p.Ser47Asn) c.377G>A (p.Ser126Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772818G>C | CA370667803 | PLPBP | c.383G>C (p.Ser128Thr) c.*235G>C (n.*235G>C) n.66G>C c.227G>C (p.Ser76Thr) c.140G>C (p.Ser47Thr) c.377G>C (p.Ser126Thr) | |
| 8 | g.37772818G= | CA1777240051 | PLPBP | c.383G= (p.Ser128=) c.*235G= (n.*235G=) n.66G= c.227G= (p.Ser76=) c.140G= (p.Ser47=) c.377G= (p.Ser126=) | |
| 8 | g.37772818G>T | CA370667804 | PLPBP | c.383G>T (p.Ser128Ile) c.*235G>T (n.*235G>T) n.66G>T c.227G>T (p.Ser76Ile) c.140G>T (p.Ser47Ile) c.377G>T (p.Ser126Ile) | |
| 8 | g.37772819T>A | CA370667805 | PLPBP | c.384T>A (p.Ser128Arg) c.*236T>A (n.*236T>A) n.67T>A c.228T>A (p.Ser76Arg) c.141T>A (p.Ser47Arg) c.378T>A (p.Ser126Arg) | |
| 8 | g.37772819T>C | CA460359132 | PLPBP | c.384T>C (p.Ser128=) c.*236T>C (n.*236T>C) n.67T>C c.228T>C (p.Ser76=) c.141T>C (p.Ser47=) c.378T>C (p.Ser126=) | |
| 8 | g.37772819T>G | CA370667806 | PLPBP | c.384T>G (p.Ser128Arg) c.*236T>G (n.*236T>G) n.67T>G c.228T>G (p.Ser76Arg) c.141T>G (p.Ser47Arg) c.378T>G (p.Ser126Arg) | |
| 8 | g.37772820T>A | CA370667807 | PLPBP | c.385T>A (p.Ser129Thr) c.*237T>A (n.*237T>A) n.68T>A c.229T>A (p.Ser77Thr) c.142T>A (p.Ser48Thr) c.379T>A (p.Ser127Thr) | |
| 8 | g.37772820T>C | CA370667808 | PLPBP | c.385T>C (p.Ser129Pro) c.*237T>C (n.*237T>C) n.68T>C c.229T>C (p.Ser77Pro) c.142T>C (p.Ser48Pro) c.379T>C (p.Ser127Pro) | |
| 8 | g.37772820T>G | CA370667809 | PLPBP | c.385T>G (p.Ser129Ala) c.*237T>G (n.*237T>G) n.68T>G c.229T>G (p.Ser77Ala) c.142T>G (p.Ser48Ala) c.379T>G (p.Ser127Ala) | |
| 8 | g.37772820_37772821delinsTC | CA1777240052 | PLPBP | c.385_386delinsTC (p.Ser129=) c.*237_*238delinsTC (n.*237_*238delinsTC) n.68_69delinsTC c.229_230delinsTC (p.Ser77=) c.142_143delinsTC (p.Ser48=) c.379_380delinsTC (p.Ser127=) | |
| 8 | g.37772821C>A | CA370667810 | PLPBP | c.386C>A (p.Ser129Tyr) c.*238C>A (n.*238C>A) n.69C>A c.230C>A (p.Ser77Tyr) c.143C>A (p.Ser48Tyr) c.380C>A (p.Ser127Tyr) | |
| 8 | g.37772821C= | CA1777240053 | PLPBP | c.386C= (p.Ser129=) c.*238C= (n.*238C=) n.69C= c.230C= (p.Ser77=) c.143C= (p.Ser48=) c.380C= (p.Ser127=) | |
| 8 | g.37772821C>G | CA4711225 | PLPBP | c.386C>G (p.Ser129Cys) c.*238C>G (n.*238C>G) n.69C>G c.230C>G (p.Ser77Cys) c.143C>G (p.Ser48Cys) c.380C>G (p.Ser127Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772821C>T | CA370667811 | PLPBP | c.386C>T (p.Ser129Phe) c.*238C>T (n.*238C>T) n.69C>T c.230C>T (p.Ser77Phe) c.143C>T (p.Ser48Phe) c.380C>T (p.Ser127Phe) | |
| 8 | g.37772822del | CA581101719 | PLPBP | c.387del (p.Trp130GlyfsTer10) c.*239del (n.*239del) n.70del c.231del (p.Trp78GlyfsTer10) c.144del (p.Trp49GlyfsTer10) c.381del (p.Trp128GlyfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37772822C>A | CA460359133 | PLPBP | c.387C>A (p.Ser129=) c.*239C>A (n.*239C>A) n.70C>A c.231C>A (p.Ser77=) c.144C>A (p.Ser48=) c.381C>A (p.Ser127=) | |
| 8 | g.37772822C>G | CA460359134 | PLPBP | c.387C>G (p.Ser129=) c.*239C>G (n.*239C>G) n.70C>G c.231C>G (p.Ser77=) c.144C>G (p.Ser48=) c.381C>G (p.Ser127=) | |
| 8 | g.37772822C>T | CA460359135 | PLPBP | c.387C>T (p.Ser129=) c.*239C>T (n.*239C>T) n.70C>T c.231C>T (p.Ser77=) c.144C>T (p.Ser48=) c.381C>T (p.Ser127=) | |
| 8 | g.37772823T>A | CA370667812 | PLPBP | c.388T>A (p.Trp130Arg) c.*240T>A (n.*240T>A) n.71T>A c.232T>A (p.Trp78Arg) c.145T>A (p.Trp49Arg) c.382T>A (p.Trp128Arg) | |
| 8 | g.37772823T>C | CA370667813 | PLPBP | c.388T>C (p.Trp130Arg) c.*240T>C (n.*240T>C) n.71T>C c.232T>C (p.Trp78Arg) c.145T>C (p.Trp49Arg) c.382T>C (p.Trp128Arg) | gnomAD v4 |
| 8 | g.37772823T>G | CA370667814 | PLPBP | c.388T>G (p.Trp130Gly) c.*240T>G (n.*240T>G) n.71T>G c.232T>G (p.Trp78Gly) c.145T>G (p.Trp49Gly) c.382T>G (p.Trp128Gly) | |
| 8 | g.37772824G>A | CA370667815 | PLPBP | c.389G>A (p.Trp130Ter) c.*241G>A (n.*241G>A) n.72G>A c.233G>A (p.Trp78Ter) c.146G>A (p.Trp49Ter) c.383G>A (p.Trp128Ter) | ClinVar dbSNP |
| 8 | g.37772824G>C | CA370667816 | PLPBP | c.389G>C (p.Trp130Ser) c.*241G>C (n.*241G>C) n.72G>C c.233G>C (p.Trp78Ser) c.146G>C (p.Trp49Ser) c.383G>C (p.Trp128Ser) | |
| 8 | g.37772824G= | CA1777240054 | PLPBP | c.389G= (p.Trp130=) c.*241G= (n.*241G=) n.72G= c.233G= (p.Trp78=) c.146G= (p.Trp49=) c.383G= (p.Trp128=) | |
| 8 | g.37772824G>T | CA370667817 | PLPBP | c.389G>T (p.Trp130Leu) c.*241G>T (n.*241G>T) n.72G>T c.233G>T (p.Trp78Leu) c.146G>T (p.Trp49Leu) c.383G>T (p.Trp128Leu) | |
| 8 | g.37772824_37772844del | CA2686900916 | PLPBP | c.389_409del (p.Trp130Ter) c.*241_*261del (n.*241_*261del) n.72_92del c.233_253del (p.Trp78Ter) c.146_166del (p.Trp49Ter) c.383_403del (p.Trp128Ter) | gnomAD v4 |
| 8 | g.37772825G>A | CA370667818 | PLPBP | c.390G>A (p.Trp130Ter) c.*242G>A (n.*242G>A) n.73G>A c.234G>A (p.Trp78Ter) c.147G>A (p.Trp49Ter) c.384G>A (p.Trp128Ter) | |
| 8 | g.37772825G>C | CA370667819 | PLPBP | c.390G>C (p.Trp130Cys) c.*242G>C (n.*242G>C) n.73G>C c.234G>C (p.Trp78Cys) c.147G>C (p.Trp49Cys) c.384G>C (p.Trp128Cys) | |
| 8 | g.37772825G>T | CA370667820 | PLPBP | c.390G>T (p.Trp130Cys) c.*242G>T (n.*242G>T) n.73G>T c.234G>T (p.Trp78Cys) c.147G>T (p.Trp49Cys) c.384G>T (p.Trp128Cys) | |
| 8 | g.37772826C>A | CA370667823 | PLPBP | c.391C>A (p.Gln131Lys) c.*243C>A (n.*243C>A) n.74C>A c.235C>A (p.Gln79Lys) c.148C>A (p.Gln50Lys) c.385C>A (p.Gln129Lys) | |
| 8 | g.37772826C>G | CA370667822 | PLPBP | c.391C>G (p.Gln131Glu) c.*243C>G (n.*243C>G) n.74C>G c.235C>G (p.Gln79Glu) c.148C>G (p.Gln50Glu) c.385C>G (p.Gln129Glu) | |
| 8 | g.37772826C>T | CA370667821 | PLPBP | c.391C>T (p.Gln131Ter) c.*243C>T (n.*243C>T) n.74C>T c.235C>T (p.Gln79Ter) c.148C>T (p.Gln50Ter) c.385C>T (p.Gln129Ter) | |
| 8 | g.37772827A>C | CA370667824 | PLPBP | c.392A>C (p.Gln131Pro) c.*244A>C (n.*244A>C) n.75A>C c.236A>C (p.Gln79Pro) c.149A>C (p.Gln50Pro) c.386A>C (p.Gln129Pro) | |
| 8 | g.37772827A>G | CA370667825 | PLPBP | c.392A>G (p.Gln131Arg) c.*244A>G (n.*244A>G) n.75A>G c.236A>G (p.Gln79Arg) c.149A>G (p.Gln50Arg) c.386A>G (p.Gln129Arg) | |
| 8 | g.37772827A>T | CA370667826 | PLPBP | c.392A>T (p.Gln131Leu) c.*244A>T (n.*244A>T) n.75A>T c.236A>T (p.Gln79Leu) c.149A>T (p.Gln50Leu) c.386A>T (p.Gln129Leu) | |
| 8 | g.37772828G>A | CA460359136 | PLPBP | c.393G>A (p.Gln131=) c.*245G>A (n.*245G>A) n.76G>A c.237G>A (p.Gln79=) c.150G>A (p.Gln50=) c.387G>A (p.Gln129=) | |
| 8 | g.37772828G>C | CA370667827 | PLPBP | c.393G>C (p.Gln131His) c.*245G>C (n.*245G>C) n.76G>C c.237G>C (p.Gln79His) c.150G>C (p.Gln50His) c.387G>C (p.Gln129His) | |
| 8 | g.37772828G= | CA1777240055 | PLPBP | c.393G= (p.Gln131=) c.*245G= (n.*245G=) n.76G= c.237G= (p.Gln79=) c.150G= (p.Gln50=) c.387G= (p.Gln129=) | |
| 8 | g.37772828G>T | CA370667828 | PLPBP | c.393G>T (p.Gln131His) c.*245G>T (n.*245G>T) n.76G>T c.237G>T (p.Gln79His) c.150G>T (p.Gln50His) c.387G>T (p.Gln129His) | |
| 8 | g.37772828_37772829insC | CA175037993 | PLPBP | c.393_394insC (p.Arg132GlnfsTer6) c.*245_*246insC (n.*245_*246insC) n.76_77insC c.237_238insC (p.Arg80GlnfsTer6) c.150_151insC (p.Arg51GlnfsTer6) c.387_388insC (p.Arg130GlnfsTer6) | dbSNP |
| 8 | g.37772829A>C | CA460359137 | PLPBP | c.394A>C (p.Arg132=) c.*246A>C (n.*246A>C) n.77A>C c.238A>C (p.Arg80=) c.151A>C (p.Arg51=) c.388A>C (p.Arg130=) | |
| 8 | g.37772829A>G | CA370667829 | PLPBP | c.394A>G (p.Arg132Gly) c.*246A>G (n.*246A>G) n.77A>G c.238A>G (p.Arg80Gly) c.151A>G (p.Arg51Gly) c.388A>G (p.Arg130Gly) | |
| 8 | g.37772829A>T | CA370667830 | PLPBP | c.394A>T (p.Arg132Ter) c.*246A>T (n.*246A>T) n.77A>T c.238A>T (p.Arg80Ter) c.151A>T (p.Arg51Ter) c.388A>T (p.Arg130Ter) | |
| 8 | g.37772830G>A | CA370667831 | PLPBP | c.395G>A (p.Arg132Lys) c.*247G>A (n.*247G>A) n.78G>A c.239G>A (p.Arg80Lys) c.152G>A (p.Arg51Lys) c.389G>A (p.Arg130Lys) | dbSNP |
| 8 | g.37772830G>C | CA370667832 | PLPBP | c.395G>C (p.Arg132Thr) c.*247G>C (n.*247G>C) n.78G>C c.239G>C (p.Arg80Thr) c.152G>C (p.Arg51Thr) c.389G>C (p.Arg130Thr) | COSMIC |
| 8 | g.37772830G>T | CA370667833 | PLPBP | c.395G>T (p.Arg132Ile) c.*247G>T (n.*247G>T) n.78G>T c.239G>T (p.Arg80Ile) c.152G>T (p.Arg51Ile) c.389G>T (p.Arg130Ile) | |
| 8 | g.37772831A>C | CA370667834 | PLPBP | c.396A>C (p.Arg132Ser) c.*248A>C (n.*248A>C) n.79A>C c.240A>C (p.Arg80Ser) c.153A>C (p.Arg51Ser) c.390A>C (p.Arg130Ser) | gnomAD v4 |
| 8 | g.37772831A>G | CA460359138 | PLPBP | c.396A>G (p.Arg132=) c.*248A>G (n.*248A>G) n.79A>G c.240A>G (p.Arg80=) c.153A>G (p.Arg51=) c.390A>G (p.Arg130=) | |
| 8 | g.37772831A>T | CA370667835 | PLPBP | c.396A>T (p.Arg132Ser) c.*248A>T (n.*248A>T) n.79A>T c.240A>T (p.Arg80Ser) c.153A>T (p.Arg51Ser) c.390A>T (p.Arg130Ser) | |
| 8 | g.37772832A>C | CA370667838 | PLPBP | c.397A>C (p.Lys133Gln) c.*249A>C (n.*249A>C) n.80A>C c.241A>C (p.Lys81Gln) c.154A>C (p.Lys52Gln) c.391A>C (p.Lys131Gln) | |
| 8 | g.37772832A>G | CA370667836 | PLPBP | c.397A>G (p.Lys133Glu) c.*249A>G (n.*249A>G) n.80A>G c.241A>G (p.Lys81Glu) c.154A>G (p.Lys52Glu) c.391A>G (p.Lys131Glu) | |
| 8 | g.37772832A>T | CA370667837 | PLPBP | c.397A>T (p.Lys133Ter) c.*249A>T (n.*249A>T) n.80A>T c.241A>T (p.Lys81Ter) c.154A>T (p.Lys52Ter) c.391A>T (p.Lys131Ter) | |
| 8 | g.37772833A>C | CA370667839 | PLPBP | c.398A>C (p.Lys133Thr) c.*250A>C (n.*250A>C) n.81A>C c.242A>C (p.Lys81Thr) c.155A>C (p.Lys52Thr) c.392A>C (p.Lys131Thr) | |
| 8 | g.37772833A>G | CA370667840 | PLPBP | c.398A>G (p.Lys133Arg) c.*250A>G (n.*250A>G) n.81A>G c.242A>G (p.Lys81Arg) c.155A>G (p.Lys52Arg) c.392A>G (p.Lys131Arg) | |
| 8 | g.37772833A>T | CA370667841 | PLPBP | c.398A>T (p.Lys133Ile) c.*250A>T (n.*250A>T) n.81A>T c.242A>T (p.Lys81Ile) c.155A>T (p.Lys52Ile) c.392A>T (p.Lys131Ile) | |
| 8 | g.37772834A= | CA1777240056 | PLPBP | c.399A= (p.Lys133=) c.*251A= (n.*251A=) n.82A= c.243A= (p.Lys81=) c.156A= (p.Lys52=) c.393A= (p.Lys131=) | |
| 8 | g.37772834A>C | CA370667842 | PLPBP | c.399A>C (p.Lys133Asn) c.*251A>C (n.*251A>C) n.82A>C c.243A>C (p.Lys81Asn) c.156A>C (p.Lys52Asn) c.393A>C (p.Lys131Asn) | |
| 8 | g.37772834A>G | CA460359139 | PLPBP | c.399A>G (p.Lys133=) c.*251A>G (n.*251A>G) n.82A>G c.243A>G (p.Lys81=) c.156A>G (p.Lys52=) c.393A>G (p.Lys131=) | dbSNP |
| 8 | g.37772834A>T | CA370667843 | PLPBP | c.399A>T (p.Lys133Asn) c.*251A>T (n.*251A>T) n.82A>T c.243A>T (p.Lys81Asn) c.156A>T (p.Lys52Asn) c.393A>T (p.Lys131Asn) | |
| 8 | g.37772835G>A | CA370667844 | PLPBP | c.400G>A (p.Gly134Ser) c.*252G>A (n.*252G>A) n.83G>A c.244G>A (p.Gly82Ser) c.157G>A (p.Gly53Ser) c.394G>A (p.Gly132Ser) | gnomAD v4 |
| 8 | g.37772835G>C | CA370667845 | PLPBP | c.400G>C (p.Gly134Arg) c.*252G>C (n.*252G>C) n.83G>C c.244G>C (p.Gly82Arg) c.157G>C (p.Gly53Arg) c.394G>C (p.Gly132Arg) | gnomAD v4 |
| 8 | g.37772835G>T | CA370667846 | PLPBP | c.400G>T (p.Gly134Cys) c.*252G>T (n.*252G>T) n.83G>T c.244G>T (p.Gly82Cys) c.157G>T (p.Gly53Cys) c.394G>T (p.Gly132Cys) | gnomAD v4 |
| 8 | g.37772836G>A | CA175037995 | PLPBP | c.401G>A (p.Gly134Asp) c.*253G>A (n.*253G>A) n.84G>A c.245G>A (p.Gly82Asp) c.158G>A (p.Gly53Asp) c.395G>A (p.Gly132Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37772836G>C | CA370667847 | PLPBP | c.401G>C (p.Gly134Ala) c.*253G>C (n.*253G>C) n.84G>C c.245G>C (p.Gly82Ala) c.158G>C (p.Gly53Ala) c.395G>C (p.Gly132Ala) | |
| 8 | g.37772836G= | CA1777240057 | PLPBP | c.401G= (p.Gly134=) c.*253G= (n.*253G=) n.84G= c.245G= (p.Gly82=) c.158G= (p.Gly53=) c.395G= (p.Gly132=) | |
| 8 | g.37772836G>T | CA370667848 | PLPBP | c.401G>T (p.Gly134Val) c.*253G>T (n.*253G>T) n.84G>T c.245G>T (p.Gly82Val) c.158G>T (p.Gly53Val) c.395G>T (p.Gly132Val) | |
| 8 | g.37772837T>A | CA460359141 | PLPBP | c.402T>A (p.Gly134=) c.*254T>A (n.*254T>A) n.85T>A c.246T>A (p.Gly82=) c.159T>A (p.Gly53=) c.396T>A (p.Gly132=) | |
| 8 | g.37772837T>C | CA460359142 | PLPBP | c.402T>C (p.Gly134=) c.*254T>C (n.*254T>C) n.85T>C c.246T>C (p.Gly82=) c.159T>C (p.Gly53=) c.396T>C (p.Gly132=) | |
| 8 | g.37772837T>G | CA460359140 | PLPBP | c.402T>G (p.Gly134=) c.*254T>G (n.*254T>G) n.85T>G c.246T>G (p.Gly82=) c.159T>G (p.Gly53=) c.396T>G (p.Gly132=) | |
| 8 | g.37772838T>A | CA370667851 | PLPBP | c.403T>A (p.Ser135Thr) c.*255T>A (n.*255T>A) n.86T>A c.247T>A (p.Ser83Thr) c.160T>A (p.Ser54Thr) c.397T>A (p.Ser133Thr) | |
| 8 | g.37772838T>C | CA370667850 | PLPBP | c.403T>C (p.Ser135Pro) c.*255T>C (n.*255T>C) n.86T>C c.247T>C (p.Ser83Pro) c.160T>C (p.Ser54Pro) c.397T>C (p.Ser133Pro) | |
| 8 | g.37772838T>G | CA370667849 | PLPBP | c.403T>G (p.Ser135Ala) c.*255T>G (n.*255T>G) n.86T>G c.247T>G (p.Ser83Ala) c.160T>G (p.Ser54Ala) c.397T>G (p.Ser133Ala) | |
| 8 | g.37772838_37772841delinsTCTC | CA1777240058 | PLPBP | c.403_406delinsTCTC (p.Ser135=) c.*255_*258delinsTCTC (n.*255_*258delinsTCTC) n.86_89delinsTCTC c.247_250delinsTCTC (p.Ser83=) c.160_163delinsTCTC (p.Ser54=) c.397_400delinsTCTC (p.Ser133=) | |
| 8 | g.37772839C>A | CA370667852 | PLPBP | c.404C>A (p.Ser135Tyr) c.*256C>A (n.*256C>A) n.87C>A c.248C>A (p.Ser83Tyr) c.161C>A (p.Ser54Tyr) c.398C>A (p.Ser133Tyr) | dbSNP |
| 8 | g.37772839C= | CA1777240059 | PLPBP | c.404C= (p.Ser135=) c.*256C= (n.*256C=) n.87C= c.248C= (p.Ser83=) c.161C= (p.Ser54=) c.398C= (p.Ser133=) | |
| 8 | g.37772839C>G | CA370667853 | PLPBP | c.404C>G (p.Ser135Cys) c.*256C>G (n.*256C>G) n.87C>G c.248C>G (p.Ser83Cys) c.161C>G (p.Ser54Cys) c.398C>G (p.Ser133Cys) | gnomAD v4 |
| 8 | g.37772839C>T | CA370667854 | PLPBP | c.404C>T (p.Ser135Phe) c.*256C>T (n.*256C>T) n.87C>T c.248C>T (p.Ser83Phe) c.161C>T (p.Ser54Phe) c.398C>T (p.Ser133Phe) | |
| 8 | g.37772841_37772843del | CA4711226 | PLPBP | c.406_408del (p.Pro136del) c.*258_*260del (n.*258_*260del) n.89_91del c.250_252del (p.Pro84del) c.163_165del (p.Pro55del) c.400_402del (p.Pro134del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772840T>A | CA460359143 | PLPBP | c.405T>A (p.Ser135=) c.*257T>A (n.*257T>A) n.88T>A c.249T>A (p.Ser83=) c.162T>A (p.Ser54=) c.399T>A (p.Ser133=) | |
| 8 | g.37772840T>C | CA460359144 | PLPBP | c.405T>C (p.Ser135=) c.*257T>C (n.*257T>C) n.88T>C c.249T>C (p.Ser83=) c.162T>C (p.Ser54=) c.399T>C (p.Ser133=) | |
| 8 | g.37772840T>G | CA460359145 | PLPBP | c.405T>G (p.Ser135=) c.*257T>G (n.*257T>G) n.88T>G c.249T>G (p.Ser83=) c.162T>G (p.Ser54=) c.399T>G (p.Ser133=) | |
| 8 | g.37772841C>A | CA370667855 | PLPBP | c.406C>A (p.Pro136Thr) c.*258C>A (n.*258C>A) n.89C>A c.250C>A (p.Pro84Thr) c.163C>A (p.Pro55Thr) c.400C>A (p.Pro134Thr) | |
| 8 | g.37772841C>G | CA370667856 | PLPBP | c.406C>G (p.Pro136Ala) c.*258C>G (n.*258C>G) n.89C>G c.250C>G (p.Pro84Ala) c.163C>G (p.Pro55Ala) c.400C>G (p.Pro134Ala) | dbSNP |
| 8 | g.37772841C>T | CA370667857 | PLPBP | c.406C>T (p.Pro136Ser) c.*258C>T (n.*258C>T) n.89C>T c.250C>T (p.Pro84Ser) c.163C>T (p.Pro55Ser) c.400C>T (p.Pro134Ser) | gnomAD v4 |
| 8 | g.37772842C>A | CA370667858 | PLPBP | c.407C>A (p.Pro136His) c.*259C>A (n.*259C>A) n.90C>A c.251C>A (p.Pro84His) c.164C>A (p.Pro55His) c.401C>A (p.Pro134His) | |
| 8 | g.37772842C= | CA1777240060 | PLPBP | c.407C= (p.Pro136=) c.*259C= (n.*259C=) n.90C= c.251C= (p.Pro84=) c.164C= (p.Pro55=) c.401C= (p.Pro134=) | |
| 8 | g.37772842C>G | CA370667859 | PLPBP | c.407C>G (p.Pro136Arg) c.*259C>G (n.*259C>G) n.90C>G c.251C>G (p.Pro84Arg) c.164C>G (p.Pro55Arg) c.401C>G (p.Pro134Arg) | |
| 8 | g.37772842C>T | CA4711227 | PLPBP | c.407C>T (p.Pro136Leu) c.*259C>T (n.*259C>T) n.90C>T c.251C>T (p.Pro84Leu) c.164C>T (p.Pro55Leu) c.401C>T (p.Pro134Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772843T>A | CA460359146 | PLPBP | c.408T>A (p.Pro136=) c.*260T>A (n.*260T>A) n.91T>A c.252T>A (p.Pro84=) c.165T>A (p.Pro55=) c.402T>A (p.Pro134=) | |
| 8 | g.37772843T>C | CA460359147 | PLPBP | c.408T>C (p.Pro136=) c.*260T>C (n.*260T>C) n.91T>C c.252T>C (p.Pro84=) c.165T>C (p.Pro55=) c.402T>C (p.Pro134=) | |
| 8 | g.37772843T>G | CA460359148 | PLPBP | c.408T>G (p.Pro136=) c.*260T>G (n.*260T>G) n.91T>G c.252T>G (p.Pro84=) c.165T>G (p.Pro55=) c.402T>G (p.Pro134=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37772843T= | CA1777240061 | PLPBP | c.408T= (p.Pro136=) c.*260T= (n.*260T=) n.91T= c.252T= (p.Pro84=) c.165T= (p.Pro55=) c.402T= (p.Pro134=) | |
| 8 | g.37772844del | CA2686900947 | PLPBP | c.409del (p.Glu137LysfsTer3) c.*261del (n.*261del) n.92del c.253del (p.Glu85LysfsTer3) c.166del (p.Glu56LysfsTer3) c.403del (p.Glu135LysfsTer3) | gnomAD v4 |
| 8 | g.37772844G>A | CA370667860 | PLPBP | c.409G>A (p.Glu137Lys) c.*261G>A (n.*261G>A) n.92G>A c.253G>A (p.Glu85Lys) c.166G>A (p.Glu56Lys) c.403G>A (p.Glu135Lys) | dbSNP COSMIC |
| 8 | g.37772844G>C | CA370667861 | PLPBP | c.409G>C (p.Glu137Gln) c.*261G>C (n.*261G>C) n.92G>C c.253G>C (p.Glu85Gln) c.166G>C (p.Glu56Gln) c.403G>C (p.Glu135Gln) | |
| 8 | g.37772844G= | CA1777240062 | PLPBP | c.409G= (p.Glu137=) c.*261G= (n.*261G=) n.92G= c.253G= (p.Glu85=) c.166G= (p.Glu56=) c.403G= (p.Glu135=) | |
| 8 | g.37772844G>T | CA370667862 | PLPBP | c.409G>T (p.Glu137Ter) c.*261G>T (n.*261G>T) n.92G>T c.253G>T (p.Glu85Ter) c.166G>T (p.Glu56Ter) c.403G>T (p.Glu135Ter) | |
| 8 | g.37772845A>C | CA370667863 | PLPBP | c.410A>C (p.Glu137Ala) c.*262A>C (n.*262A>C) n.93A>C c.254A>C (p.Glu85Ala) c.167A>C (p.Glu56Ala) c.404A>C (p.Glu135Ala) | |
| 8 | g.37772845A>G | CA370667864 | PLPBP | c.410A>G (p.Glu137Gly) c.*262A>G (n.*262A>G) n.93A>G c.254A>G (p.Glu85Gly) c.167A>G (p.Glu56Gly) c.404A>G (p.Glu135Gly) | |
| 8 | g.37772845A>T | CA370667865 | PLPBP | c.410A>T (p.Glu137Val) c.*262A>T (n.*262A>T) n.93A>T c.254A>T (p.Glu85Val) c.167A>T (p.Glu56Val) c.404A>T (p.Glu135Val) | |
| 8 | g.37772853_37772859del | CA2579141999 | PLPBP | c.418_424del (p.Lys140TrpfsTer21) c.*270_*276del (n.*270_*276del) n.101_107del c.262_268del (p.Lys88TrpfsTer21) c.418_424del (p.Lys140TrpfsTer?) c.175_181del (p.Lys59TrpfsTer?) c.412_418del (p.Lys138TrpfsTer21) | |
| 8 | g.37772846A>C | CA370667867 | PLPBP | c.411A>C (p.Glu137Asp) c.*263A>C (n.*263A>C) n.94A>C c.255A>C (p.Glu85Asp) c.168A>C (p.Glu56Asp) c.405A>C (p.Glu135Asp) | gnomAD v4 |
| 8 | g.37772846A>G | CA460359149 | PLPBP | c.411A>G (p.Glu137=) c.*263A>G (n.*263A>G) n.94A>G c.255A>G (p.Glu85=) c.168A>G (p.Glu56=) c.405A>G (p.Glu135=) | |
| 8 | g.37772846A>T | CA370667866 | PLPBP | c.411A>T (p.Glu137Asp) c.*263A>T (n.*263A>T) n.94A>T c.255A>T (p.Glu85Asp) c.168A>T (p.Glu56Asp) c.405A>T (p.Glu135Asp) | |
| 8 | g.37772847A= | CA1777240063 | PLPBP | c.412A= (p.Arg138=) c.*264A= (n.*264A=) n.95A= c.256A= (p.Arg86=) c.169A= (p.Arg57=) c.406A= (p.Arg136=) | |
| 8 | g.37772847A>C | CA460359150 | PLPBP | c.412A>C (p.Arg138=) c.*264A>C (n.*264A>C) n.95A>C c.256A>C (p.Arg86=) c.169A>C (p.Arg57=) c.406A>C (p.Arg136=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.37772847A>G | CA370667868 | PLPBP | c.412A>G (p.Arg138Gly) c.*264A>G (n.*264A>G) n.95A>G c.256A>G (p.Arg86Gly) c.169A>G (p.Arg57Gly) c.406A>G (p.Arg136Gly) | |
| 8 | g.37772847A>T | CA370667869 | PLPBP | c.412A>T (p.Arg138Trp) c.*264A>T (n.*264A>T) n.95A>T c.256A>T (p.Arg86Trp) c.169A>T (p.Arg57Trp) c.406A>T (p.Arg136Trp) | |
| 8 | g.37772848G>A | CA370667870 | PLPBP | c.413G>A (p.Arg138Lys) c.*265G>A (n.*265G>A) n.96G>A c.257G>A (p.Arg86Lys) c.170G>A (p.Arg57Lys) c.407G>A (p.Arg136Lys) | |
| 8 | g.37772848G>C | CA370667871 | PLPBP | c.413G>C (p.Arg138Thr) c.*265G>C (n.*265G>C) n.96G>C c.257G>C (p.Arg86Thr) c.170G>C (p.Arg57Thr) c.407G>C (p.Arg136Thr) | |
| 8 | g.37772848G>T | CA370667872 | PLPBP | c.413G>T (p.Arg138Met) c.*265G>T (n.*265G>T) n.96G>T c.257G>T (p.Arg86Met) c.170G>T (p.Arg57Met) c.407G>T (p.Arg136Met) | |
| 8 | g.37772849G>A | CA4711228 | PLPBP | c.414G>A (p.Arg138=) c.*266G>A (n.*266G>A) n.97G>A c.258G>A (p.Arg86=) c.171G>A (p.Arg57=) c.408G>A (p.Arg136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772849G>C | CA370667873 | PLPBP | c.414G>C (p.Arg138Ser) c.*266G>C (n.*266G>C) n.97G>C c.258G>C (p.Arg86Ser) c.171G>C (p.Arg57Ser) c.408G>C (p.Arg136Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37772849G= | CA1777240064 | PLPBP | c.414G= (p.Arg138=) c.*266G= (n.*266G=) n.97G= c.258G= (p.Arg86=) c.171G= (p.Arg57=) c.408G= (p.Arg136=) | |
| 8 | g.37772849G>T | CA370667874 | PLPBP | c.414G>T (p.Arg138Ser) c.*266G>T (n.*266G>T) n.97G>T c.258G>T (p.Arg86Ser) c.171G>T (p.Arg57Ser) c.408G>T (p.Arg136Ser) | |
| 8 | g.37772850T>A | CA370667875 | PLPBP | c.415T>A (p.Leu139Ile) c.*267T>A (n.*267T>A) n.98T>A c.259T>A (p.Leu87Ile) c.172T>A (p.Leu58Ile) c.409T>A (p.Leu137Ile) | |
| 8 | g.37772850T>C | CA460359151 | PLPBP | c.415T>C (p.Leu139=) c.*267T>C (n.*267T>C) n.98T>C c.259T>C (p.Leu87=) c.172T>C (p.Leu58=) c.409T>C (p.Leu137=) | |
| 8 | g.37772850T>G | CA370667876 | PLPBP | c.415T>G (p.Leu139Val) c.*267T>G (n.*267T>G) n.98T>G c.259T>G (p.Leu87Val) c.172T>G (p.Leu58Val) c.409T>G (p.Leu137Val) | |
| 8 | g.37772851T>A | CA370667877 | PLPBP | c.416T>A (p.Leu139Ter) c.*268T>A (n.*268T>A) n.99T>A c.260T>A (p.Leu87Ter) c.173T>A (p.Leu58Ter) c.410T>A (p.Leu137Ter) | |
| 8 | g.37772851T>C | CA370667878 | PLPBP | c.416T>C (p.Leu139Ser) c.*268T>C (n.*268T>C) n.99T>C c.260T>C (p.Leu87Ser) c.173T>C (p.Leu58Ser) c.410T>C (p.Leu137Ser) | COSMIC |
| 8 | g.37772851T>G | CA370667879 | PLPBP | c.416T>G (p.Leu139Ter) c.*268T>G (n.*268T>G) n.99T>G c.260T>G (p.Leu87Ter) c.173T>G (p.Leu58Ter) c.410T>G (p.Leu137Ter) | |
| 8 | g.37772852A= | CA1777240065 | PLPBP | c.417A= (p.Leu139=) c.*269A= (n.*269A=) n.100A= c.261A= (p.Leu87=) c.174A= (p.Leu58=) c.411A= (p.Leu137=) | |
| 8 | g.37772852A>C | CA370667880 | PLPBP | c.417A>C (p.Leu139Phe) c.*269A>C (n.*269A>C) n.100A>C c.261A>C (p.Leu87Phe) c.174A>C (p.Leu58Phe) c.411A>C (p.Leu137Phe) | |
| 8 | g.37772852A>G | CA460359152 | PLPBP | c.417A>G (p.Leu139=) c.*269A>G (n.*269A>G) n.100A>G c.261A>G (p.Leu87=) c.174A>G (p.Leu58=) c.411A>G (p.Leu137=) | |
| 8 | g.37772852A>T | CA370667881 | PLPBP | c.417A>T (p.Leu139Phe) c.*269A>T (n.*269A>T) n.100A>T c.261A>T (p.Leu87Phe) c.174A>T (p.Leu58Phe) c.411A>T (p.Leu137Phe) | dbSNP |
| 8 | g.37772854del | CA2579142000 | PLPBP | c.419del (p.Lys140ArgfsTer23) c.*271del (n.*271del) n.102del c.263del (p.Lys88ArgfsTer23) c.419del (p.Lys140ArgfsTer?) c.176del (p.Lys59ArgfsTer?) c.413del (p.Lys138ArgfsTer23) | |
| 8 | g.37772853A>C | CA370667882 | PLPBP | c.418A>C (p.Lys140Gln) c.*270A>C (n.*270A>C) n.101A>C c.262A>C (p.Lys88Gln) c.175A>C (p.Lys59Gln) c.412A>C (p.Lys138Gln) | |
| 8 | g.37772853A>G | CA370667884 | PLPBP | c.418A>G (p.Lys140Glu) c.*270A>G (n.*270A>G) n.101A>G c.262A>G (p.Lys88Glu) c.175A>G (p.Lys59Glu) c.412A>G (p.Lys138Glu) | |
| 8 | g.37772853A>T | CA370667883 | PLPBP | c.418A>T (p.Lys140Ter) c.*270A>T (n.*270A>T) n.101A>T c.262A>T (p.Lys88Ter) c.175A>T (p.Lys59Ter) c.412A>T (p.Lys138Ter) | |
| 8 | g.37772854A= | CA1777240066 | PLPBP | c.419A= (p.Lys140=) c.*271A= (n.*271A=) n.102A= c.263A= (p.Lys88=) c.176A= (p.Lys59=) c.413A= (p.Lys138=) | |
| 8 | g.37772854A>C | CA370667885 | PLPBP | c.419A>C (p.Lys140Thr) c.*271A>C (n.*271A>C) n.102A>C c.263A>C (p.Lys88Thr) c.176A>C (p.Lys59Thr) c.413A>C (p.Lys138Thr) | |
| 8 | g.37772854A>G | CA4711229 | PLPBP | c.419A>G (p.Lys140Arg) c.*271A>G (n.*271A>G) n.102A>G c.263A>G (p.Lys88Arg) c.176A>G (p.Lys59Arg) c.413A>G (p.Lys138Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.37772854A>T | CA370667886 | PLPBP | c.419A>T (p.Lys140Met) c.*271A>T (n.*271A>T) n.102A>T c.263A>T (p.Lys88Met) c.176A>T (p.Lys59Met) c.413A>T (p.Lys138Met) | |
| 8 | g.37772855G>A | CA460359153 | PLPBP | c.420G>A (p.Lys140=) c.*272G>A (n.*272G>A) n.103G>A c.264G>A (p.Lys88=) c.177G>A (p.Lys59=) c.414G>A (p.Lys138=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772855G>C | CA370667887 | PLPBP | c.420G>C (p.Lys140Asn) c.*272G>C (n.*272G>C) n.103G>C c.264G>C (p.Lys88Asn) c.177G>C (p.Lys59Asn) c.414G>C (p.Lys138Asn) | |
| 8 | g.37772855G= | CA1777240067 | PLPBP | c.420G= (p.Lys140=) c.*272G= (n.*272G=) n.103G= c.264G= (p.Lys88=) c.177G= (p.Lys59=) c.414G= (p.Lys138=) | |
| 8 | g.37772855G>T | CA370667888 | PLPBP | c.420G>T (p.Lys140Asn) c.*272G>T (n.*272G>T) n.103G>T c.264G>T (p.Lys88Asn) c.177G>T (p.Lys59Asn) c.414G>T (p.Lys138Asn) | |
| 8 | g.37772856G>A | CA4711230 | PLPBP | c.421G>A (p.Val141Ile) c.*273G>A (n.*273G>A) n.104G>A c.265G>A (p.Val89Ile) c.178G>A (p.Val60Ile) c.415G>A (p.Val139Ile) | dbSNP ExAC gnomAD v2 |
| 8 | g.37772856G>C | CA370667889 | PLPBP | c.421G>C (p.Val141Leu) c.*273G>C (n.*273G>C) n.104G>C c.265G>C (p.Val89Leu) c.178G>C (p.Val60Leu) c.415G>C (p.Val139Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.37772856G= | CA1777240068 | PLPBP | c.421G= (p.Val141=) c.*273G= (n.*273G=) n.104G= c.265G= (p.Val89=) c.178G= (p.Val60=) c.415G= (p.Val139=) | |
| 8 | g.37772856G>T | CA370667890 | PLPBP | c.421G>T (p.Val141Phe) c.*273G>T (n.*273G>T) n.104G>T c.265G>T (p.Val89Phe) c.178G>T (p.Val60Phe) c.415G>T (p.Val139Phe) | |
| 8 | g.37772857T>A | CA370667891 | PLPBP | c.422T>A (p.Val141Asp) c.*274T>A (n.*274T>A) n.105T>A c.266T>A (p.Val89Asp) c.179T>A (p.Val60Asp) c.416T>A (p.Val139Asp) | |
| 8 | g.37772857T>C | CA370667892 | PLPBP | c.422T>C (p.Val141Ala) c.*274T>C (n.*274T>C) n.105T>C c.266T>C (p.Val89Ala) c.179T>C (p.Val60Ala) c.416T>C (p.Val139Ala) | |
| 8 | g.37772857T>G | CA370667893 | PLPBP | c.422T>G (p.Val141Gly) c.*274T>G (n.*274T>G) n.105T>G c.266T>G (p.Val89Gly) c.179T>G (p.Val60Gly) c.416T>G (p.Val139Gly) | |
| 8 | g.37772858dup | CA2686900962 | PLPBP | c.423dup (p.Met142TyrfsTer5) c.*275dup (n.*275dup) n.106dup c.267dup (p.Met90TyrfsTer5) c.180dup (p.Met61TyrfsTer5) c.417dup (p.Met140TyrfsTer5) | gnomAD v4 |
| 8 | g.37772858T>A | CA460359156 | PLPBP | c.423T>A (p.Val141=) c.*275T>A (n.*275T>A) n.106T>A c.267T>A (p.Val89=) c.180T>A (p.Val60=) c.417T>A (p.Val139=) | |
| 8 | g.37772858T>C | CA460359155 | PLPBP | c.423T>C (p.Val141=) c.*275T>C (n.*275T>C) n.106T>C c.267T>C (p.Val89=) c.180T>C (p.Val60=) c.417T>C (p.Val139=) | |
| 8 | g.37772858T>G | CA460359154 | PLPBP | c.423T>G (p.Val141=) c.*275T>G (n.*275T>G) n.106T>G c.267T>G (p.Val89=) c.180T>G (p.Val60=) c.417T>G (p.Val139=) | |
| 8 | g.37772859A= | CA1777240069 | PLPBP | c.424A= (p.Met142=) c.*276A= (n.*276A=) n.107A= c.268A= (p.Met90=) c.181A= (p.Met61=) c.418A= (p.Met140=) | |
| 8 | g.37772859A>C | CA370667896 | PLPBP | c.424A>C (p.Met142Leu) c.*276A>C (n.*276A>C) n.107A>C c.268A>C (p.Met90Leu) c.181A>C (p.Met61Leu) c.418A>C (p.Met140Leu) | |
| 8 | g.37772859A>G | CA370667895 | PLPBP | c.424A>G (p.Met142Val) c.*276A>G (n.*276A>G) n.107A>G c.268A>G (p.Met90Val) c.181A>G (p.Met61Val) c.418A>G (p.Met140Val) | dbSNP |
| 8 | g.37772859A>T | CA370667894 | PLPBP | c.424A>T (p.Met142Leu) c.*276A>T (n.*276A>T) n.107A>T c.268A>T (p.Met90Leu) c.181A>T (p.Met61Leu) c.418A>T (p.Met140Leu) | |
| 8 | g.37772860T>A | CA370667897 | PLPBP | c.425T>A (p.Met142Lys) c.*277T>A (n.*277T>A) n.108T>A c.269T>A (p.Met90Lys) c.182T>A (p.Met61Lys) c.419T>A (p.Met140Lys) | |
| 8 | g.37772860T>C | CA370667898 | PLPBP | c.425T>C (p.Met142Thr) c.*277T>C (n.*277T>C) n.108T>C c.269T>C (p.Met90Thr) c.182T>C (p.Met61Thr) c.419T>C (p.Met140Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.37772860T>G | CA370667899 | PLPBP | c.425T>G (p.Met142Arg) c.*277T>G (n.*277T>G) n.108T>G c.269T>G (p.Met90Arg) c.182T>G (p.Met61Arg) c.419T>G (p.Met140Arg) | |
| 8 | g.37772860T= | CA1777240070 | PLPBP | c.425T= (p.Met142=) c.*277T= (n.*277T=) n.108T= c.269T= (p.Met90=) c.182T= (p.Met61=) c.419T= (p.Met140=) | |
| 8 | g.37772861G>A | CA370667900 | PLPBP | c.426G>A (p.Met142Ile) c.*278G>A (n.*278G>A) n.109G>A c.270G>A (p.Met90Ile) c.183G>A (p.Met61Ile) c.420G>A (p.Met140Ile) | |
| 8 | g.37772861G>C | CA370667901 | PLPBP | c.426G>C (p.Met142Ile) c.*278G>C (n.*278G>C) n.109G>C c.270G>C (p.Met90Ile) c.183G>C (p.Met61Ile) c.420G>C (p.Met140Ile) | dbSNP |
| 8 | g.37772861G= | CA1777240071 | PLPBP | c.426G= (p.Met142=) c.*278G= (n.*278G=) n.109G= c.270G= (p.Met90=) c.183G= (p.Met61=) c.420G= (p.Met140=) | |
| 8 | g.37772861G>T | CA370667902 | PLPBP | c.426G>T (p.Met142Ile) c.*278G>T (n.*278G>T) n.109G>T c.270G>T (p.Met90Ile) c.183G>T (p.Met61Ile) c.420G>T (p.Met140Ile) | |
| 8 | g.37772862G>A | CA370667903 | PLPBP | c.427G>A (p.Val143Ile) c.*279G>A (n.*279G>A) n.110G>A c.271G>A (p.Val91Ile) c.184G>A (p.Val62Ile) c.421G>A (p.Val141Ile) | |
| 8 | g.37772862G>C | CA370667904 | PLPBP | c.427G>C (p.Val143Leu) c.*279G>C (n.*279G>C) n.110G>C c.271G>C (p.Val91Leu) c.184G>C (p.Val62Leu) c.421G>C (p.Val141Leu) | |
| 8 | g.37772862G>T | CA370667905 | PLPBP | c.427G>T (p.Val143Phe) c.*279G>T (n.*279G>T) n.110G>T c.271G>T (p.Val91Phe) c.184G>T (p.Val62Phe) c.421G>T (p.Val141Phe) | |
| 8 | g.37772863T>A | CA370667906 | PLPBP | c.428T>A (p.Val143Asp) c.*280T>A (n.*280T>A) n.111T>A c.272T>A (p.Val91Asp) c.185T>A (p.Val62Asp) c.422T>A (p.Val141Asp) | |
| 8 | g.37772863T>C | CA370667907 | PLPBP | c.428T>C (p.Val143Ala) c.*280T>C (n.*280T>C) n.111T>C c.272T>C (p.Val91Ala) c.185T>C (p.Val62Ala) c.422T>C (p.Val141Ala) | |
| 8 | g.37772863T>G | CA370667908 | PLPBP | c.428T>G (p.Val143Gly) c.*280T>G (n.*280T>G) n.111T>G c.272T>G (p.Val91Gly) c.185T>G (p.Val62Gly) c.422T>G (p.Val141Gly) | |
| 8 | g.37772864C>A | CA460359157 | PLPBP | c.429C>A (p.Val143=) c.*281C>A (n.*281C>A) n.112C>A c.273C>A (p.Val91=) c.186C>A (p.Val62=) c.423C>A (p.Val141=) | ClinVar gnomAD v4 |
| 8 | g.37772864C>G | CA460359158 | PLPBP | c.429C>G (p.Val143=) c.*281C>G (n.*281C>G) n.112C>G c.273C>G (p.Val91=) c.186C>G (p.Val62=) c.423C>G (p.Val141=) | |
| 8 | g.37772864C>T | CA460359159 | PLPBP | c.429C>T (p.Val143=) c.*281C>T (n.*281C>T) n.112C>T c.273C>T (p.Val91=) c.186C>T (p.Val62=) c.423C>T (p.Val141=) | |
| 8 | g.37772865C>A | CA370667909 | PLPBP | c.430C>A (p.Gln144Lys) c.*282C>A (n.*282C>A) n.113C>A c.274C>A (p.Gln92Lys) c.187C>A (p.Gln63Lys) c.424C>A (p.Gln142Lys) | |
| 8 | g.37772865C= | CA1777240072 | PLPBP | c.430C= (p.Gln144=) c.*282C= (n.*282C=) n.113C= c.274C= (p.Gln92=) c.187C= (p.Gln63=) c.424C= (p.Gln142=) | |
| 8 | g.37772865C>G | CA370667911 | PLPBP | c.430C>G (p.Gln144Glu) c.*282C>G (n.*282C>G) n.113C>G c.274C>G (p.Gln92Glu) c.187C>G (p.Gln63Glu) c.424C>G (p.Gln142Glu) | |
| 8 | g.37772865C>T | CA370667910 | PLPBP | c.430C>T (p.Gln144Ter) c.*282C>T (n.*282C>T) n.113C>T c.274C>T (p.Gln92Ter) c.187C>T (p.Gln63Ter) c.424C>T (p.Gln142Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.37772866A>C | CA370667912 | PLPBP | c.431A>C (p.Gln144Pro) c.*283A>C (n.*283A>C) n.114A>C c.275A>C (p.Gln92Pro) c.188A>C (p.Gln63Pro) c.425A>C (p.Gln142Pro) | |
| 8 | g.37772866A>G | CA370667914 | PLPBP | c.431A>G (p.Gln144Arg) c.*283A>G (n.*283A>G) n.114A>G c.275A>G (p.Gln92Arg) c.188A>G (p.Gln63Arg) c.425A>G (p.Gln142Arg) | |
| 8 | g.37772866A>T | CA370667913 | PLPBP | c.431A>T (p.Gln144Leu) c.*283A>T (n.*283A>T) n.114A>T c.275A>T (p.Gln92Leu) c.188A>T (p.Gln63Leu) c.425A>T (p.Gln142Leu) |