WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.87894025_87894109del | CA645559004 | PTEN | c.80_164del n.899+13587_899+13671del c.*115_*199del c.*275+13587_*275+13671del (n.*275+13587_*275+13671del) c.599_683del n.82_166del c.-23_62del c.-626_-542del c.68+13587_68+13671del (n.68+13587_68+13671del) n.792_876del | COSMIC |
| 10 | g.87894071_87894114del | CA2695200938 | PTEN | c.126_164+5del n.899+13633_899+13676del c.*161_*199+5del c.*275+13633_*275+13676del (n.*275+13633_*275+13676del) c.645_683+5del n.128_171del c.24_62+5del c.-580_-542+5del c.68+13633_68+13676del (n.68+13633_68+13676del) n.838_876+5del | ClinVar |
| 10 | g.87894076_87894082del | CA645559017 | PTEN | c.131_137del (p.Gly44AlafsTer8) n.899+13638_899+13644del c.*166_*172del (n.*166_*172del) c.*275+13638_*275+13644del (n.*275+13638_*275+13644del) c.650_656del (p.Gly217AlafsTer8) n.133_139del c.29_35del (p.Gly10AlafsTer8) c.-575_-569del (n.-575_-569del) c.68+13638_68+13644del (n.68+13638_68+13644del) n.843_849del | COSMIC |
| 10 | g.87894081_87894084dup | CA645559020 | PTEN | c.136_139dup (p.Arg47IlefsTer6) n.899+13643_899+13646dup c.*171_*174dup (n.*171_*174dup) c.*275+13643_*275+13646dup (n.*275+13643_*275+13646dup) c.5_8dup c.655_658dup (p.Arg220IlefsTer6) n.138_141dup c.34_37dup (p.Arg13IlefsTer6) c.-570_-567dup (n.-570_-567dup) c.68+13643_68+13646dup (n.68+13643_68+13646dup) n.848_851dup | COSMIC |
| 10 | g.87894081_87894082delinsAC | CA891840578 | PTEN | c.136_137delinsAC (p.Tyr46Thr) n.899+13643_899+13644delinsAC c.*171_*172delinsAC (n.*171_*172delinsAC) c.*275+13643_*275+13644delinsAC (n.*275+13643_*275+13644delinsAC) c.5_6delinsAC c.655_656delinsAC (p.Tyr219Thr) n.138_139delinsAC c.34_35delinsAC (p.Tyr12Thr) c.-570_-569delinsAC (n.-570_-569delinsAC) c.68+13643_68+13644delinsAC (n.68+13643_68+13644delinsAC) n.848_849delinsAC | |
| 10 | g.87894081_87894082delinsAT | CA891840579 | PTEN | c.136_137delinsAT (p.Tyr46Ile) n.899+13643_899+13644delinsAT c.*171_*172delinsAT (n.*171_*172delinsAT) c.*275+13643_*275+13644delinsAT (n.*275+13643_*275+13644delinsAT) c.5_6delinsAT c.655_656delinsAT (p.Tyr219Ile) n.138_139delinsAT c.34_35delinsAT (p.Tyr12Ile) c.-570_-569delinsAT (n.-570_-569delinsAT) c.68+13643_68+13644delinsAT (n.68+13643_68+13644delinsAT) n.848_849delinsAT | |
| 10 | g.87894081_87894082delinsGC | CA891840581 | PTEN | c.136_137delinsGC (p.Tyr46Ala) n.899+13643_899+13644delinsGC c.*171_*172delinsGC (n.*171_*172delinsGC) c.*275+13643_*275+13644delinsGC (n.*275+13643_*275+13644delinsGC) c.5_6delinsGC c.655_656delinsGC (p.Tyr219Ala) n.138_139delinsGC c.34_35delinsGC (p.Tyr12Ala) c.-570_-569delinsGC (n.-570_-569delinsGC) c.68+13643_68+13644delinsGC (n.68+13643_68+13644delinsGC) n.848_849delinsGC | |
| 10 | g.87894081_87894082delinsGG | CA891840575 | PTEN | c.136_137delinsGG (p.Tyr46Gly) n.899+13643_899+13644delinsGG c.*171_*172delinsGG (n.*171_*172delinsGG) c.*275+13643_*275+13644delinsGG (n.*275+13643_*275+13644delinsGG) c.5_6delinsGG c.655_656delinsGG (p.Tyr219Gly) n.138_139delinsGG c.34_35delinsGG (p.Tyr12Gly) c.-570_-569delinsGG (n.-570_-569delinsGG) c.68+13643_68+13644delinsGG (n.68+13643_68+13644delinsGG) n.848_849delinsGG | |
| 10 | g.87894081_87894082delinsGT | CA891840577 | PTEN | c.136_137delinsGT (p.Tyr46Val) n.899+13643_899+13644delinsGT c.*171_*172delinsGT (n.*171_*172delinsGT) c.*275+13643_*275+13644delinsGT (n.*275+13643_*275+13644delinsGT) c.5_6delinsGT c.655_656delinsGT (p.Tyr219Val) n.138_139delinsGT c.34_35delinsGT (p.Tyr12Val) c.-570_-569delinsGT (n.-570_-569delinsGT) c.68+13643_68+13644delinsGT (n.68+13643_68+13644delinsGT) n.848_849delinsGT | |
| 10 | g.87894081_87894083del | CA2579927100 | PTEN | c.136_138del (p.Tyr46del) n.899+13643_899+13645del c.*171_*173del (n.*171_*173del) c.*275+13643_*275+13645del (n.*275+13643_*275+13645del) c.5_7del c.655_657del (p.Tyr219del) n.138_140del c.34_36del (p.Tyr12del) c.-570_-568del (n.-570_-568del) c.68+13643_68+13645del (n.68+13643_68+13645del) n.848_850del | |
| 10 | g.87894081_87894083delinsAAA | CA891835226 | PTEN | c.136_138delinsAAA (p.Tyr46Lys) n.899+13643_899+13645delinsAAA c.*171_*173delinsAAA (n.*171_*173delinsAAA) c.*275+13643_*275+13645delinsAAA (n.*275+13643_*275+13645delinsAAA) c.5_7delinsAAA c.655_657delinsAAA (p.Tyr219Lys) n.138_140delinsAAA c.34_36delinsAAA (p.Tyr12Lys) c.-570_-568delinsAAA (n.-570_-568delinsAAA) c.68+13643_68+13645delinsAAA (n.68+13643_68+13645delinsAAA) n.848_850delinsAAA | |
| 10 | g.87894081_87894083delinsACT | CA891835223 | PTEN | c.136_138delinsACT (p.Tyr46Thr) n.899+13643_899+13645delinsACT c.*171_*173delinsACT (n.*171_*173delinsACT) c.*275+13643_*275+13645delinsACT (n.*275+13643_*275+13645delinsACT) c.5_7delinsACT c.655_657delinsACT (p.Tyr219Thr) n.138_140delinsACT c.34_36delinsACT (p.Tyr12Thr) c.-570_-568delinsACT (n.-570_-568delinsACT) c.68+13643_68+13645delinsACT (n.68+13643_68+13645delinsACT) n.848_850delinsACT | |
| 10 | g.87894081_87894083delinsAGA | CA891835209 | PTEN | c.136_138delinsAGA (p.Tyr46Arg) n.899+13643_899+13645delinsAGA c.*171_*173delinsAGA (n.*171_*173delinsAGA) c.*275+13643_*275+13645delinsAGA (n.*275+13643_*275+13645delinsAGA) c.5_7delinsAGA c.655_657delinsAGA (p.Tyr219Arg) n.138_140delinsAGA c.34_36delinsAGA (p.Tyr12Arg) c.-570_-568delinsAGA (n.-570_-568delinsAGA) c.68+13643_68+13645delinsAGA (n.68+13643_68+13645delinsAGA) n.848_850delinsAGA | |
| 10 | g.87894081_87894083delinsATG | CA891835232 | PTEN | c.136_138delinsATG (p.Tyr46Met) n.899+13643_899+13645delinsATG c.*171_*173delinsATG (n.*171_*173delinsATG) c.*275+13643_*275+13645delinsATG (n.*275+13643_*275+13645delinsATG) c.5_7delinsATG c.655_657delinsATG (p.Tyr219Met) n.138_140delinsATG c.34_36delinsATG (p.Tyr12Met) c.-570_-568delinsATG (n.-570_-568delinsATG) c.68+13643_68+13645delinsATG (n.68+13643_68+13645delinsATG) n.848_850delinsATG | |
| 10 | g.87894081_87894083delinsATT | CA891835239 | PTEN | c.136_138delinsATT (p.Tyr46Ile) n.899+13643_899+13645delinsATT c.*171_*173delinsATT (n.*171_*173delinsATT) c.*275+13643_*275+13645delinsATT (n.*275+13643_*275+13645delinsATT) c.5_7delinsATT c.655_657delinsATT (p.Tyr219Ile) n.138_140delinsATT c.34_36delinsATT (p.Tyr12Ile) c.-570_-568delinsATT (n.-570_-568delinsATT) c.68+13643_68+13645delinsATT (n.68+13643_68+13645delinsATT) n.848_850delinsATT | |
| 10 | g.87894081_87894083delinsCAA | CA891835221 | PTEN | c.136_138delinsCAA (p.Tyr46Gln) n.899+13643_899+13645delinsCAA c.*171_*173delinsCAA (n.*171_*173delinsCAA) c.*275+13643_*275+13645delinsCAA (n.*275+13643_*275+13645delinsCAA) c.5_7delinsCAA c.655_657delinsCAA (p.Tyr219Gln) n.138_140delinsCAA c.34_36delinsCAA (p.Tyr12Gln) c.-570_-568delinsCAA (n.-570_-568delinsCAA) c.68+13643_68+13645delinsCAA (n.68+13643_68+13645delinsCAA) n.848_850delinsCAA | |
| 10 | g.87894081_87894083delinsCAT | CA891835219 | PTEN | c.136_138delinsCAT (p.Tyr46His) n.899+13643_899+13645delinsCAT c.*171_*173delinsCAT (n.*171_*173delinsCAT) c.*275+13643_*275+13645delinsCAT (n.*275+13643_*275+13645delinsCAT) c.5_7delinsCAT c.655_657delinsCAT (p.Tyr219His) n.138_140delinsCAT c.34_36delinsCAT (p.Tyr12His) c.-570_-568delinsCAT (n.-570_-568delinsCAT) c.68+13643_68+13645delinsCAT (n.68+13643_68+13645delinsCAT) n.848_850delinsCAT | |
| 10 | g.87894081_87894083delinsCCA | CA891835212 | PTEN | c.136_138delinsCCA (p.Tyr46Pro) n.899+13643_899+13645delinsCCA c.*171_*173delinsCCA (n.*171_*173delinsCCA) c.*275+13643_*275+13645delinsCCA (n.*275+13643_*275+13645delinsCCA) c.5_7delinsCCA c.655_657delinsCCA (p.Tyr219Pro) n.138_140delinsCCA c.34_36delinsCCA (p.Tyr12Pro) c.-570_-568delinsCCA (n.-570_-568delinsCCA) c.68+13643_68+13645delinsCCA (n.68+13643_68+13645delinsCCA) n.848_850delinsCCA | |
| 10 | g.87894081_87894083delinsGAA | CA891835234 | PTEN | c.136_138delinsGAA (p.Tyr46Glu) n.899+13643_899+13645delinsGAA c.*171_*173delinsGAA (n.*171_*173delinsGAA) c.*275+13643_*275+13645delinsGAA (n.*275+13643_*275+13645delinsGAA) c.5_7delinsGAA c.655_657delinsGAA (p.Tyr219Glu) n.138_140delinsGAA c.34_36delinsGAA (p.Tyr12Glu) c.-570_-568delinsGAA (n.-570_-568delinsGAA) c.68+13643_68+13645delinsGAA (n.68+13643_68+13645delinsGAA) n.848_850delinsGAA | |
| 10 | g.87894081_87894083delinsGAT | CA891835231 | PTEN | c.136_138delinsGAT (p.Tyr46Asp) n.899+13643_899+13645delinsGAT c.*171_*173delinsGAT (n.*171_*173delinsGAT) c.*275+13643_*275+13645delinsGAT (n.*275+13643_*275+13645delinsGAT) c.5_7delinsGAT c.655_657delinsGAT (p.Tyr219Asp) n.138_140delinsGAT c.34_36delinsGAT (p.Tyr12Asp) c.-570_-568delinsGAT (n.-570_-568delinsGAT) c.68+13643_68+13645delinsGAT (n.68+13643_68+13645delinsGAT) n.848_850delinsGAT | |
| 10 | g.87894081_87894083delinsGCT | CA891835244 | PTEN | c.136_138delinsGCT (p.Tyr46Ala) n.899+13643_899+13645delinsGCT c.*171_*173delinsGCT (n.*171_*173delinsGCT) c.*275+13643_*275+13645delinsGCT (n.*275+13643_*275+13645delinsGCT) c.5_7delinsGCT c.655_657delinsGCT (p.Tyr219Ala) n.138_140delinsGCT c.34_36delinsGCT (p.Tyr12Ala) c.-570_-568delinsGCT (n.-570_-568delinsGCT) c.68+13643_68+13645delinsGCT (n.68+13643_68+13645delinsGCT) n.848_850delinsGCT | |
| 10 | g.87894081_87894083delinsGGT | CA891835217 | PTEN | c.136_138delinsGGT (p.Tyr46Gly) n.899+13643_899+13645delinsGGT c.*171_*173delinsGGT (n.*171_*173delinsGGT) c.*275+13643_*275+13645delinsGGT (n.*275+13643_*275+13645delinsGGT) c.5_7delinsGGT c.655_657delinsGGT (p.Tyr219Gly) n.138_140delinsGGT c.34_36delinsGGT (p.Tyr12Gly) c.-570_-568delinsGGT (n.-570_-568delinsGGT) c.68+13643_68+13645delinsGGT (n.68+13643_68+13645delinsGGT) n.848_850delinsGGT | |
| 10 | g.87894081_87894083delinsGTT | CA891835241 | PTEN | c.136_138delinsGTT (p.Tyr46Val) n.899+13643_899+13645delinsGTT c.*171_*173delinsGTT (n.*171_*173delinsGTT) c.*275+13643_*275+13645delinsGTT (n.*275+13643_*275+13645delinsGTT) c.5_7delinsGTT c.655_657delinsGTT (p.Tyr219Val) n.138_140delinsGTT c.34_36delinsGTT (p.Tyr12Val) c.-570_-568delinsGTT (n.-570_-568delinsGTT) c.68+13643_68+13645delinsGTT (n.68+13643_68+13645delinsGTT) n.848_850delinsGTT | |
| 10 | g.87894082A= | CA1926157290 | PTEN | c.137A= (p.Tyr46=) n.899+13644A= c.*172A= (n.*172A=) c.*275+13644A= (n.*275+13644A=) c.6A= c.656A= (p.Tyr219=) n.139A= c.35A= (p.Tyr12=) c.-569A= (n.-569A=) c.68+13644A= (n.68+13644A=) n.849A= | |
| 10 | g.87894082A>C | CA377784549 | PTEN | c.137A>C (p.Tyr46Ser) n.899+13644A>C c.*172A>C (n.*172A>C) c.*275+13644A>C (n.*275+13644A>C) c.6A>C c.656A>C (p.Tyr219Ser) n.139A>C c.35A>C (p.Tyr12Ser) c.-569A>C (n.-569A>C) c.68+13644A>C (n.68+13644A>C) n.849A>C | |
| 10 | g.87894082A>G | CA000320 | PTEN | c.137A>G (p.Tyr46Cys) n.899+13644A>G c.*172A>G (n.*172A>G) c.*275+13644A>G (n.*275+13644A>G) c.6A>G c.656A>G (p.Tyr219Cys) n.139A>G c.35A>G (p.Tyr12Cys) c.-569A>G (n.-569A>G) c.68+13644A>G (n.68+13644A>G) n.849A>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 10 | g.87894082A>T | CA377784550 | PTEN | c.137A>T (p.Tyr46Phe) n.899+13644A>T c.*172A>T (n.*172A>T) c.*275+13644A>T (n.*275+13644A>T) c.6A>T c.656A>T (p.Tyr219Phe) n.139A>T c.35A>T (p.Tyr12Phe) c.-569A>T (n.-569A>T) c.68+13644A>T (n.68+13644A>T) n.849A>T | dbSNP |
| 10 | g.87894082_87894083delinsCT | CA891835250 | PTEN | c.137_138delinsCT (p.Tyr46Ser) n.899+13644_899+13645delinsCT c.*172_*173delinsCT (n.*172_*173delinsCT) c.*275+13644_*275+13645delinsCT (n.*275+13644_*275+13645delinsCT) c.6_7delinsCT c.656_657delinsCT (p.Tyr219Ser) n.139_140delinsCT c.35_36delinsCT (p.Tyr12Ser) c.-569_-568delinsCT (n.-569_-568delinsCT) c.68+13644_68+13645delinsCT (n.68+13644_68+13645delinsCT) n.849_850delinsCT | |
| 10 | g.87894082_87894083delinsGG | CA891835252 | PTEN | c.137_138delinsGG (p.Tyr46Trp) n.899+13644_899+13645delinsGG c.*172_*173delinsGG (n.*172_*173delinsGG) c.*275+13644_*275+13645delinsGG (n.*275+13644_*275+13645delinsGG) c.6_7delinsGG c.656_657delinsGG (p.Tyr219Trp) n.139_140delinsGG c.35_36delinsGG (p.Tyr12Trp) c.-569_-568delinsGG (n.-569_-568delinsGG) c.68+13644_68+13645delinsGG (n.68+13644_68+13645delinsGG) n.849_850delinsGG | |
| 10 | g.87894082_87894083delinsGT | CA891835251 | PTEN | c.137_138delinsGT (p.Tyr46Cys) n.899+13644_899+13645delinsGT c.*172_*173delinsGT (n.*172_*173delinsGT) c.*275+13644_*275+13645delinsGT (n.*275+13644_*275+13645delinsGT) c.6_7delinsGT c.656_657delinsGT (p.Tyr219Cys) n.139_140delinsGT c.35_36delinsGT (p.Tyr12Cys) c.-569_-568delinsGT (n.-569_-568delinsGT) c.68+13644_68+13645delinsGT (n.68+13644_68+13645delinsGT) n.849_850delinsGT | |
| 10 | g.87894082_87894083delinsTA | CA891840587 | PTEN | c.137_138delinsTA (p.Tyr46Leu) n.899+13644_899+13645delinsTA c.*172_*173delinsTA (n.*172_*173delinsTA) c.*275+13644_*275+13645delinsTA (n.*275+13644_*275+13645delinsTA) c.6_7delinsTA c.656_657delinsTA (p.Tyr219Leu) n.139_140delinsTA c.35_36delinsTA (p.Tyr12Leu) c.-569_-568delinsTA (n.-569_-568delinsTA) c.68+13644_68+13645delinsTA (n.68+13644_68+13645delinsTA) n.849_850delinsTA | |
| 10 | g.87894082_87894083delinsTG | CA891835254 | PTEN | c.137_138delinsTG (p.Tyr46Leu) n.899+13644_899+13645delinsTG c.*172_*173delinsTG (n.*172_*173delinsTG) c.*275+13644_*275+13645delinsTG (n.*275+13644_*275+13645delinsTG) c.6_7delinsTG c.656_657delinsTG (p.Tyr219Leu) n.139_140delinsTG c.35_36delinsTG (p.Tyr12Leu) c.-569_-568delinsTG (n.-569_-568delinsTG) c.68+13644_68+13645delinsTG (n.68+13644_68+13645delinsTG) n.849_850delinsTG | |
| 10 | g.87894082_87894083delinsTT | CA891835253 | PTEN | c.137_138delinsTT (p.Tyr46Phe) n.899+13644_899+13645delinsTT c.*172_*173delinsTT (n.*172_*173delinsTT) c.*275+13644_*275+13645delinsTT (n.*275+13644_*275+13645delinsTT) c.6_7delinsTT c.656_657delinsTT (p.Tyr219Phe) n.139_140delinsTT c.35_36delinsTT (p.Tyr12Phe) c.-569_-568delinsTT (n.-569_-568delinsTT) c.68+13644_68+13645delinsTT (n.68+13644_68+13645delinsTT) n.849_850delinsTT | |
| 10 | g.87894082_87894084dup | CA2695212328 | PTEN | c.137_139dup (p.Tyr46_Arg47insAsn) n.899+13644_899+13646dup c.*172_*174dup (n.*172_*174dup) c.*275+13644_*275+13646dup (n.*275+13644_*275+13646dup) c.6_8dup c.656_658dup (p.Tyr219_Arg220insAsn) n.139_141dup c.35_37dup (p.Tyr12_Arg13insAsn) c.-569_-567dup (n.-569_-567dup) c.68+13644_68+13646dup (n.68+13644_68+13646dup) n.849_851dup | |
| 10 | g.87894083C>A | CA377784551 | PTEN | c.138C>A (p.Tyr46Ter) n.899+13645C>A c.*173C>A (n.*173C>A) c.*275+13645C>A (n.*275+13645C>A) c.7C>A c.657C>A (p.Tyr219Ter) n.140C>A c.36C>A (p.Tyr12Ter) c.-568C>A (n.-568C>A) c.68+13645C>A (n.68+13645C>A) n.850C>A | ClinVar dbSNP |
| 10 | g.87894083C= | CA1926157296 | PTEN | c.138C= (p.Tyr46=) n.899+13645C= c.*173C= (n.*173C=) c.*275+13645C= (n.*275+13645C=) c.7C= c.657C= (p.Tyr219=) n.140C= c.36C= (p.Tyr12=) c.-568C= (n.-568C=) c.68+13645C= (n.68+13645C=) n.850C= | |
| 10 | g.87894083C>G | CA377784552 | PTEN | c.138C>G (p.Tyr46Ter) n.899+13645C>G c.*173C>G (n.*173C>G) c.*275+13645C>G (n.*275+13645C>G) c.7C>G c.657C>G (p.Tyr219Ter) n.140C>G c.36C>G (p.Tyr12Ter) c.-568C>G (n.-568C>G) c.68+13645C>G (n.68+13645C>G) n.850C>G | ClinVar dbSNP COSMIC |
| 10 | g.87894083C>T | CA470879035 | PTEN | c.138C>T (p.Tyr46=) n.899+13645C>T c.*173C>T (n.*173C>T) c.*275+13645C>T (n.*275+13645C>T) c.7C>T c.657C>T (p.Tyr219=) n.140C>T c.36C>T (p.Tyr12=) c.-568C>T (n.-568C>T) c.68+13645C>T (n.68+13645C>T) n.850C>T | dbSNP |
| 10 | g.87894084A= | CA1926157303 | PTEN | c.139A= (p.Arg47=) n.899+13646A= c.*174A= (n.*174A=) c.*275+13646A= (n.*275+13646A=) c.8A= c.658A= (p.Arg220=) n.141A= c.37A= (p.Arg13=) c.-567A= (n.-567A=) c.68+13646A= (n.68+13646A=) n.851A= | |
| 10 | g.87894084A>C | CA470879036 | PTEN | c.139A>C (p.Arg47=) n.899+13646A>C c.*174A>C (n.*174A>C) c.*275+13646A>C (n.*275+13646A>C) c.8A>C c.658A>C (p.Arg220=) n.141A>C c.37A>C (p.Arg13=) c.-567A>C (n.-567A>C) c.68+13646A>C (n.68+13646A>C) n.851A>C | |
| 10 | g.87894084A>G | CA000322 | PTEN | c.139A>G (p.Arg47Gly) n.899+13646A>G c.*174A>G (n.*174A>G) c.*275+13646A>G (n.*275+13646A>G) c.8A>G c.658A>G (p.Arg220Gly) n.141A>G c.37A>G (p.Arg13Gly) c.-567A>G (n.-567A>G) c.68+13646A>G (n.68+13646A>G) n.851A>G | ClinVar dbSNP COSMIC |
| 10 | g.87894084A>T | CA377784553 | PTEN | c.139A>T (p.Arg47Trp) n.899+13646A>T c.*174A>T (n.*174A>T) c.*275+13646A>T (n.*275+13646A>T) c.8A>T c.658A>T (p.Arg220Trp) n.141A>T c.37A>T (p.Arg13Trp) c.-567A>T (n.-567A>T) c.68+13646A>T (n.68+13646A>T) n.851A>T | |
| 10 | g.87894084_87894085delinsAG | CA1926157305 | PTEN | c.139_140delinsAG (p.Arg47=) n.899+13646_899+13647delinsAG c.*174_*175delinsAG (n.*174_*175delinsAG) c.*275+13646_*275+13647delinsAG (n.*275+13646_*275+13647delinsAG) c.8_9delinsAG c.658_659delinsAG (p.Arg220=) n.141_142delinsAG c.37_38delinsAG (p.Arg13=) c.-567_-566delinsAG (n.-567_-566delinsAG) c.68+13646_68+13647delinsAG (n.68+13646_68+13647delinsAG) n.851_852delinsAG | |
| 10 | g.87894084_87894085delinsCA | CA891840591 | PTEN | c.139_140delinsCA (p.Arg47Gln) n.899+13646_899+13647delinsCA c.*174_*175delinsCA (n.*174_*175delinsCA) c.*275+13646_*275+13647delinsCA (n.*275+13646_*275+13647delinsCA) c.8_9delinsCA c.658_659delinsCA (p.Arg220Gln) n.141_142delinsCA c.37_38delinsCA (p.Arg13Gln) c.-567_-566delinsCA (n.-567_-566delinsCA) c.68+13646_68+13647delinsCA (n.68+13646_68+13647delinsCA) n.851_852delinsCA | |
| 10 | g.87894084_87894085delinsCC | CA891840594 | PTEN | c.139_140delinsCC (p.Arg47Pro) n.899+13646_899+13647delinsCC c.*174_*175delinsCC (n.*174_*175delinsCC) c.*275+13646_*275+13647delinsCC (n.*275+13646_*275+13647delinsCC) c.8_9delinsCC c.658_659delinsCC (p.Arg220Pro) n.141_142delinsCC c.37_38delinsCC (p.Arg13Pro) c.-567_-566delinsCC (n.-567_-566delinsCC) c.68+13646_68+13647delinsCC (n.68+13646_68+13647delinsCC) n.851_852delinsCC | |
| 10 | g.87894084_87894085delinsGA | CA891840602 | PTEN | c.139_140delinsGA (p.Arg47Glu) n.899+13646_899+13647delinsGA c.*174_*175delinsGA (n.*174_*175delinsGA) c.*275+13646_*275+13647delinsGA (n.*275+13646_*275+13647delinsGA) c.8_9delinsGA c.658_659delinsGA (p.Arg220Glu) n.141_142delinsGA c.37_38delinsGA (p.Arg13Glu) c.-567_-566delinsGA (n.-567_-566delinsGA) c.68+13646_68+13647delinsGA (n.68+13646_68+13647delinsGA) n.851_852delinsGA | |
| 10 | g.87894084_87894085delinsGC | CA891840600 | PTEN | c.139_140delinsGC (p.Arg47Ala) n.899+13646_899+13647delinsGC c.*174_*175delinsGC (n.*174_*175delinsGC) c.*275+13646_*275+13647delinsGC (n.*275+13646_*275+13647delinsGC) c.8_9delinsGC c.658_659delinsGC (p.Arg220Ala) n.141_142delinsGC c.37_38delinsGC (p.Arg13Ala) c.-567_-566delinsGC (n.-567_-566delinsGC) c.68+13646_68+13647delinsGC (n.68+13646_68+13647delinsGC) n.851_852delinsGC | |
| 10 | g.87894084_87894085delinsGT | CA891840592 | PTEN | c.139_140delinsGT (p.Arg47Val) n.899+13646_899+13647delinsGT c.*174_*175delinsGT (n.*174_*175delinsGT) c.*275+13646_*275+13647delinsGT (n.*275+13646_*275+13647delinsGT) c.8_9delinsGT c.658_659delinsGT (p.Arg220Val) n.141_142delinsGT c.37_38delinsGT (p.Arg13Val) c.-567_-566delinsGT (n.-567_-566delinsGT) c.68+13646_68+13647delinsGT (n.68+13646_68+13647delinsGT) n.851_852delinsGT | |
| 10 | g.87894084_87894085delinsTT | CA891835285 | PTEN | c.139_140delinsTT (p.Arg47Leu) n.899+13646_899+13647delinsTT c.*174_*175delinsTT (n.*174_*175delinsTT) c.*275+13646_*275+13647delinsTT (n.*275+13646_*275+13647delinsTT) c.8_9delinsTT c.658_659delinsTT (p.Arg220Leu) n.141_142delinsTT c.37_38delinsTT (p.Arg13Leu) c.-567_-566delinsTT (n.-567_-566delinsTT) c.68+13646_68+13647delinsTT (n.68+13646_68+13647delinsTT) n.851_852delinsTT | |
| 10 | g.87894084_87894086delinsCAA | CA2579927098 | PTEN | c.139_141delinsCAA (p.Arg47Gln) n.899+13646_899+13648delinsCAA c.*174_*176delinsCAA (n.*174_*176delinsCAA) c.*275+13646_*275+13648delinsCAA (n.*275+13646_*275+13648delinsCAA) c.8_10delinsCAA c.658_660delinsCAA (p.Arg220Gln) n.141_143delinsCAA c.37_39delinsCAA (p.Arg13Gln) c.-567_-565delinsCAA (n.-567_-565delinsCAA) c.68+13646_68+13648delinsCAA (n.68+13646_68+13648delinsCAA) n.851_853delinsCAA |