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.87894067_87894080del | CA2695200933 | PTEN | c.122_135del (p.Arg41IlefsTer6) n.899+13629_899+13642del c.*157_*170del (n.*157_*170del) c.*275+13629_*275+13642del (n.*275+13629_*275+13642del) c.641_654del (p.Arg214IlefsTer6) n.124_137del c.20_33del (p.Arg7IlefsTer6) c.-584_-571del (n.-584_-571del) c.68+13629_68+13642del (n.68+13629_68+13642del) n.834_847del | ClinVar |
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.87894075_87894076delinsAC | CA891840533 | PTEN | c.130_131delinsAC (p.Gly44Thr) n.899+13637_899+13638delinsAC c.*165_*166delinsAC (n.*165_*166delinsAC) c.*275+13637_*275+13638delinsAC (n.*275+13637_*275+13638delinsAC) c.649_650delinsAC (p.Gly217Thr) n.132_133delinsAC c.28_29delinsAC (p.Gly10Thr) c.-576_-575delinsAC (n.-576_-575delinsAC) c.68+13637_68+13638delinsAC (n.68+13637_68+13638delinsAC) n.842_843delinsAC | |
10 | g.87894075_87894076delinsAT | CA891840538 | PTEN | c.130_131delinsAT (p.Gly44Ile) n.899+13637_899+13638delinsAT c.*165_*166delinsAT (n.*165_*166delinsAT) c.*275+13637_*275+13638delinsAT (n.*275+13637_*275+13638delinsAT) c.649_650delinsAT (p.Gly217Ile) n.132_133delinsAT c.28_29delinsAT (p.Gly10Ile) c.-576_-575delinsAT (n.-576_-575delinsAT) c.68+13637_68+13638delinsAT (n.68+13637_68+13638delinsAT) n.842_843delinsAT | |
10 | g.87894075_87894076delinsCA | CA891840539 | PTEN | c.130_131delinsCA (p.Gly44His) n.899+13637_899+13638delinsCA c.*165_*166delinsCA (n.*165_*166delinsCA) c.*275+13637_*275+13638delinsCA (n.*275+13637_*275+13638delinsCA) c.649_650delinsCA (p.Gly217His) n.132_133delinsCA c.28_29delinsCA (p.Gly10His) c.-576_-575delinsCA (n.-576_-575delinsCA) c.68+13637_68+13638delinsCA (n.68+13637_68+13638delinsCA) n.842_843delinsCA | |
10 | g.87894075_87894076delinsCT | CA891840536 | PTEN | c.130_131delinsCT (p.Gly44Leu) n.899+13637_899+13638delinsCT c.*165_*166delinsCT (n.*165_*166delinsCT) c.*275+13637_*275+13638delinsCT (n.*275+13637_*275+13638delinsCT) c.649_650delinsCT (p.Gly217Leu) n.132_133delinsCT c.28_29delinsCT (p.Gly10Leu) c.-576_-575delinsCT (n.-576_-575delinsCT) c.68+13637_68+13638delinsCT (n.68+13637_68+13638delinsCT) n.842_843delinsCT | |
10 | g.87894075_87894076delinsTA | CA891840532 | PTEN | c.130_131delinsTA (p.Gly44Tyr) n.899+13637_899+13638delinsTA c.*165_*166delinsTA (n.*165_*166delinsTA) c.*275+13637_*275+13638delinsTA (n.*275+13637_*275+13638delinsTA) c.649_650delinsTA (p.Gly217Tyr) n.132_133delinsTA c.28_29delinsTA (p.Gly10Tyr) c.-576_-575delinsTA (n.-576_-575delinsTA) c.68+13637_68+13638delinsTA (n.68+13637_68+13638delinsTA) n.842_843delinsTA | |
10 | g.87894076dup | CA891842738 | PTEN | c.131dup (p.Val45ArgfsTer7) n.899+13638dup c.*166dup (n.*166dup) c.*275+13638dup (n.*275+13638dup) c.650dup (p.Val218ArgfsTer7) n.133dup c.29dup (p.Val11ArgfsTer7) c.-575dup (n.-575dup) c.68+13638dup (n.68+13638dup) n.843dup | ClinVar dbSNP |
10 | g.87894076del | CA2573334575 | PTEN | c.131del (p.Gly44AlafsTer10) n.899+13638del c.*166del (n.*166del) c.*275+13638del (n.*275+13638del) c.650del (p.Gly217AlafsTer10) n.133del c.29del (p.Gly10AlafsTer10) c.-575del (n.-575del) c.68+13638del (n.68+13638del) n.843del | |
10 | g.87894075_87894077delinsAAA | CA891835119 | PTEN | c.130_132delinsAAA (p.Gly44Lys) n.899+13637_899+13639delinsAAA c.*165_*167delinsAAA (n.*165_*167delinsAAA) c.*275+13637_*275+13639delinsAAA (n.*275+13637_*275+13639delinsAAA) c.649_651delinsAAA (p.Gly217Lys) n.132_134delinsAAA c.28_30delinsAAA (p.Gly10Lys) c.-576_-574delinsAAA (n.-576_-574delinsAAA) c.68+13637_68+13639delinsAAA (n.68+13637_68+13639delinsAAA) n.842_844delinsAAA | |
10 | g.87894075_87894077delinsAAT | CA891835136 | PTEN | c.130_132delinsAAT (p.Gly44Asn) n.899+13637_899+13639delinsAAT c.*165_*167delinsAAT (n.*165_*167delinsAAT) c.*275+13637_*275+13639delinsAAT (n.*275+13637_*275+13639delinsAAT) c.649_651delinsAAT (p.Gly217Asn) n.132_134delinsAAT c.28_30delinsAAT (p.Gly10Asn) c.-576_-574delinsAAT (n.-576_-574delinsAAT) c.68+13637_68+13639delinsAAT (n.68+13637_68+13639delinsAAT) n.842_844delinsAAT | |
10 | g.87894075_87894077delinsACT | CA891835117 | PTEN | c.130_132delinsACT (p.Gly44Thr) n.899+13637_899+13639delinsACT c.*165_*167delinsACT (n.*165_*167delinsACT) c.*275+13637_*275+13639delinsACT (n.*275+13637_*275+13639delinsACT) c.649_651delinsACT (p.Gly217Thr) n.132_134delinsACT c.28_30delinsACT (p.Gly10Thr) c.-576_-574delinsACT (n.-576_-574delinsACT) c.68+13637_68+13639delinsACT (n.68+13637_68+13639delinsACT) n.842_844delinsACT | |
10 | g.87894075_87894077delinsAGA | CA891835133 | PTEN | c.130_132delinsAGA (p.Gly44Arg) n.899+13637_899+13639delinsAGA c.*165_*167delinsAGA (n.*165_*167delinsAGA) c.*275+13637_*275+13639delinsAGA (n.*275+13637_*275+13639delinsAGA) c.649_651delinsAGA (p.Gly217Arg) n.132_134delinsAGA c.28_30delinsAGA (p.Gly10Arg) c.-576_-574delinsAGA (n.-576_-574delinsAGA) c.68+13637_68+13639delinsAGA (n.68+13637_68+13639delinsAGA) n.842_844delinsAGA | |
10 | g.87894075_87894077delinsATG | CA891835143 | PTEN | c.130_132delinsATG (p.Gly44Met) n.899+13637_899+13639delinsATG c.*165_*167delinsATG (n.*165_*167delinsATG) c.*275+13637_*275+13639delinsATG (n.*275+13637_*275+13639delinsATG) c.649_651delinsATG (p.Gly217Met) n.132_134delinsATG c.28_30delinsATG (p.Gly10Met) c.-576_-574delinsATG (n.-576_-574delinsATG) c.68+13637_68+13639delinsATG (n.68+13637_68+13639delinsATG) n.842_844delinsATG | |
10 | g.87894075_87894077delinsATT | CA2579927106 | PTEN | c.130_132delinsATT (p.Gly44Ile) n.899+13637_899+13639delinsATT c.*165_*167delinsATT (n.*165_*167delinsATT) c.*275+13637_*275+13639delinsATT (n.*275+13637_*275+13639delinsATT) c.649_651delinsATT (p.Gly217Ile) n.132_134delinsATT c.28_30delinsATT (p.Gly10Ile) c.-576_-574delinsATT (n.-576_-574delinsATT) c.68+13637_68+13639delinsATT (n.68+13637_68+13639delinsATT) n.842_844delinsATT | |
10 | g.87894075_87894077delinsCAA | CA891835135 | PTEN | c.130_132delinsCAA (p.Gly44Gln) n.899+13637_899+13639delinsCAA c.*165_*167delinsCAA (n.*165_*167delinsCAA) c.*275+13637_*275+13639delinsCAA (n.*275+13637_*275+13639delinsCAA) c.649_651delinsCAA (p.Gly217Gln) n.132_134delinsCAA c.28_30delinsCAA (p.Gly10Gln) c.-576_-574delinsCAA (n.-576_-574delinsCAA) c.68+13637_68+13639delinsCAA (n.68+13637_68+13639delinsCAA) n.842_844delinsCAA | |
10 | g.87894075_87894077delinsCAT | CA891835132 | PTEN | c.130_132delinsCAT (p.Gly44His) n.899+13637_899+13639delinsCAT c.*165_*167delinsCAT (n.*165_*167delinsCAT) c.*275+13637_*275+13639delinsCAT (n.*275+13637_*275+13639delinsCAT) c.649_651delinsCAT (p.Gly217His) n.132_134delinsCAT c.28_30delinsCAT (p.Gly10His) c.-576_-574delinsCAT (n.-576_-574delinsCAT) c.68+13637_68+13639delinsCAT (n.68+13637_68+13639delinsCAT) n.842_844delinsCAT | |
10 | g.87894075_87894077delinsCCA | CA2579927105 | PTEN | c.130_132delinsCCA (p.Gly44Pro) n.899+13637_899+13639delinsCCA c.*165_*167delinsCCA (n.*165_*167delinsCCA) c.*275+13637_*275+13639delinsCCA (n.*275+13637_*275+13639delinsCCA) c.649_651delinsCCA (p.Gly217Pro) n.132_134delinsCCA c.28_30delinsCCA (p.Gly10Pro) c.-576_-574delinsCCA (n.-576_-574delinsCCA) c.68+13637_68+13639delinsCCA (n.68+13637_68+13639delinsCCA) n.842_844delinsCCA | |
10 | g.87894075_87894077delinsGGC | CA891840542 | PTEN | c.130_132delinsGGC (p.Gly44=) n.899+13637_899+13639delinsGGC c.*165_*167delinsGGC (n.*165_*167delinsGGC) c.*275+13637_*275+13639delinsGGC (n.*275+13637_*275+13639delinsGGC) c.649_651delinsGGC (p.Gly217=) n.132_134delinsGGC c.28_30delinsGGC (p.Gly10=) c.-576_-574delinsGGC (n.-576_-574delinsGGC) c.68+13637_68+13639delinsGGC (n.68+13637_68+13639delinsGGC) n.842_844delinsGGC | |
10 | g.87894075_87894077delinsTAA | CA2579927102 | PTEN | c.130_132delinsTAA (p.Gly44Ter) n.899+13637_899+13639delinsTAA c.*165_*167delinsTAA (n.*165_*167delinsTAA) c.*275+13637_*275+13639delinsTAA (n.*275+13637_*275+13639delinsTAA) c.649_651delinsTAA (p.Gly217Ter) n.132_134delinsTAA c.28_30delinsTAA (p.Gly10Ter) c.-576_-574delinsTAA (n.-576_-574delinsTAA) c.68+13637_68+13639delinsTAA (n.68+13637_68+13639delinsTAA) n.842_844delinsTAA | |
10 | g.87894075_87894077delinsTAT | CA891835139 | PTEN | c.130_132delinsTAT (p.Gly44Tyr) n.899+13637_899+13639delinsTAT c.*165_*167delinsTAT (n.*165_*167delinsTAT) c.*275+13637_*275+13639delinsTAT (n.*275+13637_*275+13639delinsTAT) c.649_651delinsTAT (p.Gly217Tyr) n.132_134delinsTAT c.28_30delinsTAT (p.Gly10Tyr) c.-576_-574delinsTAT (n.-576_-574delinsTAT) c.68+13637_68+13639delinsTAT (n.68+13637_68+13639delinsTAT) n.842_844delinsTAT | |
10 | g.87894075_87894077delinsTCT | CA891835137 | PTEN | c.130_132delinsTCT (p.Gly44Ser) n.899+13637_899+13639delinsTCT c.*165_*167delinsTCT (n.*165_*167delinsTCT) c.*275+13637_*275+13639delinsTCT (n.*275+13637_*275+13639delinsTCT) c.649_651delinsTCT (p.Gly217Ser) n.132_134delinsTCT c.28_30delinsTCT (p.Gly10Ser) c.-576_-574delinsTCT (n.-576_-574delinsTCT) c.68+13637_68+13639delinsTCT (n.68+13637_68+13639delinsTCT) n.842_844delinsTCT | |
10 | g.87894075_87894077delinsTGG | CA891835138 | PTEN | c.130_132delinsTGG (p.Gly44Trp) n.899+13637_899+13639delinsTGG c.*165_*167delinsTGG (n.*165_*167delinsTGG) c.*275+13637_*275+13639delinsTGG (n.*275+13637_*275+13639delinsTGG) c.649_651delinsTGG (p.Gly217Trp) n.132_134delinsTGG c.28_30delinsTGG (p.Gly10Trp) c.-576_-574delinsTGG (n.-576_-574delinsTGG) c.68+13637_68+13639delinsTGG (n.68+13637_68+13639delinsTGG) n.842_844delinsTGG | |
10 | g.87894075_87894077delinsTGT | CA891835134 | PTEN | c.130_132delinsTGT (p.Gly44Cys) n.899+13637_899+13639delinsTGT c.*165_*167delinsTGT (n.*165_*167delinsTGT) c.*275+13637_*275+13639delinsTGT (n.*275+13637_*275+13639delinsTGT) c.649_651delinsTGT (p.Gly217Cys) n.132_134delinsTGT c.28_30delinsTGT (p.Gly10Cys) c.-576_-574delinsTGT (n.-576_-574delinsTGT) c.68+13637_68+13639delinsTGT (n.68+13637_68+13639delinsTGT) n.842_844delinsTGT | |
10 | g.87894075_87894077delinsTTG | CA891835144 | PTEN | c.130_132delinsTTG (p.Gly44Leu) n.899+13637_899+13639delinsTTG c.*165_*167delinsTTG (n.*165_*167delinsTTG) c.*275+13637_*275+13639delinsTTG (n.*275+13637_*275+13639delinsTTG) c.649_651delinsTTG (p.Gly217Leu) n.132_134delinsTTG c.28_30delinsTTG (p.Gly10Leu) c.-576_-574delinsTTG (n.-576_-574delinsTTG) c.68+13637_68+13639delinsTTG (n.68+13637_68+13639delinsTTG) n.842_844delinsTTG | |
10 | g.87894075_87894077delinsTTT | CA891835141 | PTEN | c.130_132delinsTTT (p.Gly44Phe) n.899+13637_899+13639delinsTTT c.*165_*167delinsTTT (n.*165_*167delinsTTT) c.*275+13637_*275+13639delinsTTT (n.*275+13637_*275+13639delinsTTT) c.649_651delinsTTT (p.Gly217Phe) n.132_134delinsTTT c.28_30delinsTTT (p.Gly10Phe) c.-576_-574delinsTTT (n.-576_-574delinsTTT) c.68+13637_68+13639delinsTTT (n.68+13637_68+13639delinsTTT) n.842_844delinsTTT | |
10 | g.87894076_87894078del | CA2579927103 | PTEN | c.131_133del (p.Gly44del) n.899+13638_899+13640del c.*166_*168del (n.*166_*168del) c.*275+13638_*275+13640del (n.*275+13638_*275+13640del) c.650_652del (p.Gly217del) n.133_135del c.29_31del (p.Gly10del) c.-575_-573del (n.-575_-573del) c.68+13638_68+13640del (n.68+13638_68+13640del) n.843_845del | |
10 | g.87894076G>A | CA377784538 | PTEN | c.131G>A (p.Gly44Asp) n.899+13638G>A c.*166G>A (n.*166G>A) c.*275+13638G>A (n.*275+13638G>A) c.650G>A (p.Gly217Asp) n.133G>A c.29G>A (p.Gly10Asp) c.-575G>A (n.-575G>A) c.68+13638G>A (n.68+13638G>A) n.843G>A | ClinVar dbSNP COSMIC |
10 | g.87894076G>C | CA377784539 | PTEN | c.131G>C (p.Gly44Ala) n.899+13638G>C c.*166G>C (n.*166G>C) c.*275+13638G>C (n.*275+13638G>C) c.650G>C (p.Gly217Ala) n.133G>C c.29G>C (p.Gly10Ala) c.-575G>C (n.-575G>C) c.68+13638G>C (n.68+13638G>C) n.843G>C | dbSNP |
10 | g.87894076G= | CA1926157229 | PTEN | c.131G= (p.Gly44=) n.899+13638G= c.*166G= (n.*166G=) c.*275+13638G= (n.*275+13638G=) c.650G= (p.Gly217=) n.133G= c.29G= (p.Gly10=) c.-575G= (n.-575G=) c.68+13638G= (n.68+13638G=) n.843G= | |
10 | g.87894076G>T | CA377784540 | PTEN | c.131G>T (p.Gly44Val) n.899+13638G>T c.*166G>T (n.*166G>T) c.*275+13638G>T (n.*275+13638G>T) c.650G>T (p.Gly217Val) n.133G>T c.29G>T (p.Gly10Val) c.-575G>T (n.-575G>T) c.68+13638G>T (n.68+13638G>T) n.843G>T | dbSNP gnomAD v4 |
10 | g.87894076_87894077delinsAA | CA891835162 | PTEN | c.131_132delinsAA (p.Gly44Glu) n.899+13638_899+13639delinsAA c.*166_*167delinsAA (n.*166_*167delinsAA) c.*275+13638_*275+13639delinsAA (n.*275+13638_*275+13639delinsAA) c.650_651delinsAA (p.Gly217Glu) n.133_134delinsAA c.29_30delinsAA (p.Gly10Glu) c.-575_-574delinsAA (n.-575_-574delinsAA) c.68+13638_68+13639delinsAA (n.68+13638_68+13639delinsAA) n.843_844delinsAA | |
10 | g.87894076_87894077delinsAT | CA2579927104 | PTEN | c.131_132delinsAT (p.Gly44Asp) n.899+13638_899+13639delinsAT c.*166_*167delinsAT (n.*166_*167delinsAT) c.*275+13638_*275+13639delinsAT (n.*275+13638_*275+13639delinsAT) c.650_651delinsAT (p.Gly217Asp) n.133_134delinsAT c.29_30delinsAT (p.Gly10Asp) c.-575_-574delinsAT (n.-575_-574delinsAT) c.68+13638_68+13639delinsAT (n.68+13638_68+13639delinsAT) n.843_844delinsAT | |
10 | g.87894076_87894077delinsCT | CA891835164 | PTEN | c.131_132delinsCT (p.Gly44Ala) n.899+13638_899+13639delinsCT c.*166_*167delinsCT (n.*166_*167delinsCT) c.*275+13638_*275+13639delinsCT (n.*275+13638_*275+13639delinsCT) c.650_651delinsCT (p.Gly217Ala) n.133_134delinsCT c.29_30delinsCT (p.Gly10Ala) c.-575_-574delinsCT (n.-575_-574delinsCT) c.68+13638_68+13639delinsCT (n.68+13638_68+13639delinsCT) n.843_844delinsCT | |
10 | g.87894076_87894077delinsTT | CA891835159 | PTEN | c.131_132delinsTT (p.Gly44Val) n.899+13638_899+13639delinsTT c.*166_*167delinsTT (n.*166_*167delinsTT) c.*275+13638_*275+13639delinsTT (n.*275+13638_*275+13639delinsTT) c.650_651delinsTT (p.Gly217Val) n.133_134delinsTT c.29_30delinsTT (p.Gly10Val) c.-575_-574delinsTT (n.-575_-574delinsTT) c.68+13638_68+13639delinsTT (n.68+13638_68+13639delinsTT) n.843_844delinsTT | |
10 | g.87894076_87894079dup | CA194636 | PTEN | c.131_134dup (p.Tyr46ArgfsTer7) n.899+13638_899+13641dup c.*166_*169dup (n.*166_*169dup) c.*275+13638_*275+13641dup (n.*275+13638_*275+13641dup) c.650_653dup (p.Tyr219ArgfsTer7) n.133_136dup c.29_32dup (p.Tyr12ArgfsTer7) c.-575_-572dup (n.-575_-572dup) c.68+13638_68+13641dup (n.68+13638_68+13641dup) n.843_846dup | ClinVar dbSNP |
10 | g.87894076_87894081delinsACAGAAAG | CA645559018 | PTEN | c.131_136delinsACAGAAAG (p.Gly44AspfsTer11) n.899+13638_899+13643delinsACAGAAAG c.*166_*171delinsACAGAAAG (n.*166_*171delinsACAGAAAG) c.*275+13638_*275+13643delinsACAGAAAG (n.*275+13638_*275+13643delinsACAGAAAG) c.650_655delinsACAGAAAG (p.Gly217AspfsTer11) n.133_138delinsACAGAAAG c.29_34delinsACAGAAAG (p.Gly10AspfsTer11) c.-575_-570delinsACAGAAAG (n.-575_-570delinsACAGAAAG) c.68+13638_68+13643delinsACAGAAAG (n.68+13638_68+13643delinsACAGAAAG) n.843_848delinsACAGAAAG | COSMIC |
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.87894077del | CA2573334574 | PTEN | c.132del (p.Val45TyrfsTer9) n.899+13639del c.*167del (n.*167del) c.*275+13639del (n.*275+13639del) c.1del c.651del (p.Val218TyrfsTer9) n.134del c.30del (p.Val11TyrfsTer9) c.-574del (n.-574del) c.68+13639del (n.68+13639del) n.844del | |
10 | g.87894077C>A | CA059244 | PTEN | c.132C>A (p.Gly44=) n.899+13639C>A c.*167C>A (n.*167C>A) c.*275+13639C>A (n.*275+13639C>A) c.1C>A c.651C>A (p.Gly217=) n.134C>A c.30C>A (p.Gly10=) c.-574C>A (n.-574C>A) c.68+13639C>A (n.68+13639C>A) n.844C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87894077C= | CA1926157243 | PTEN | c.132C= (p.Gly44=) n.899+13639C= c.*167C= (n.*167C=) c.*275+13639C= (n.*275+13639C=) c.1C= c.651C= (p.Gly217=) n.134C= c.30C= (p.Gly10=) c.-574C= (n.-574C=) c.68+13639C= (n.68+13639C=) n.844C= | |
10 | g.87894077C>G | CA470879031 | PTEN | c.132C>G (p.Gly44=) n.899+13639C>G c.*167C>G (n.*167C>G) c.*275+13639C>G (n.*275+13639C>G) c.1C>G c.651C>G (p.Gly217=) n.134C>G c.30C>G (p.Gly10=) c.-574C>G (n.-574C>G) c.68+13639C>G (n.68+13639C>G) n.844C>G | dbSNP |
10 | g.87894077C>T | CA000318 | PTEN | c.132C>T (p.Gly44=) n.899+13639C>T c.*167C>T (n.*167C>T) c.*275+13639C>T (n.*275+13639C>T) c.1C>T c.651C>T (p.Gly217=) n.134C>T c.30C>T (p.Gly10=) c.-574C>T (n.-574C>T) c.68+13639C>T (n.68+13639C>T) n.844C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.87894077dup | CA10582754 | PTEN | c.132dup (p.Val45ArgfsTer7) n.899+13639dup c.*167dup (n.*167dup) c.*275+13639dup (n.*275+13639dup) c.1dup c.651dup (p.Val218ArgfsTer7) n.134dup c.30dup (p.Val11ArgfsTer7) c.-574dup (n.-574dup) c.68+13639dup (n.68+13639dup) n.844dup | ClinVar dbSNP |
10 | g.87894078del | CA470879032 | PTEN | c.133del (p.Val45TyrfsTer9) n.899+13640del c.*168del (n.*168del) c.*275+13640del (n.*275+13640del) c.2del c.652del (p.Val218TyrfsTer9) n.135del c.31del (p.Val11TyrfsTer9) c.-573del (n.-573del) c.68+13640del (n.68+13640del) n.845del | COSMIC COSMIC |
10 | g.87894078G>A | CA377784541 | PTEN | c.133G>A (p.Val45Ile) n.899+13640G>A c.*168G>A (n.*168G>A) c.*275+13640G>A (n.*275+13640G>A) c.2G>A c.652G>A (p.Val218Ile) n.135G>A c.31G>A (p.Val11Ile) c.-573G>A (n.-573G>A) c.68+13640G>A (n.68+13640G>A) n.845G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.87894078G>C | CA377784542 | PTEN | c.133G>C (p.Val45Leu) n.899+13640G>C c.*168G>C (n.*168G>C) c.*275+13640G>C (n.*275+13640G>C) c.2G>C c.652G>C (p.Val218Leu) n.135G>C c.31G>C (p.Val11Leu) c.-573G>C (n.-573G>C) c.68+13640G>C (n.68+13640G>C) n.845G>C | dbSNP |
10 | g.87894078G= | CA1926157257 | PTEN | c.133G= (p.Val45=) n.899+13640G= c.*168G= (n.*168G=) c.*275+13640G= (n.*275+13640G=) c.2G= c.652G= (p.Val218=) n.135G= c.31G= (p.Val11=) c.-573G= (n.-573G=) c.68+13640G= (n.68+13640G=) n.845G= | |
10 | g.87894078G>T | CA377784543 | PTEN | c.133G>T (p.Val45Leu) n.899+13640G>T c.*168G>T (n.*168G>T) c.*275+13640G>T (n.*275+13640G>T) c.2G>T c.652G>T (p.Val218Leu) n.135G>T c.31G>T (p.Val11Leu) c.-573G>T (n.-573G>T) c.68+13640G>T (n.68+13640G>T) n.845G>T |