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.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.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.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.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 | |
| 10 | g.87894078_87894079delinsAA | CA891840561 | PTEN | c.133_134delinsAA (p.Val45Lys) n.899+13640_899+13641delinsAA c.*168_*169delinsAA (n.*168_*169delinsAA) c.*275+13640_*275+13641delinsAA (n.*275+13640_*275+13641delinsAA) c.2_3delinsAA c.652_653delinsAA (p.Val218Lys) n.135_136delinsAA c.31_32delinsAA (p.Val11Lys) c.-573_-572delinsAA (n.-573_-572delinsAA) c.68+13640_68+13641delinsAA (n.68+13640_68+13641delinsAA) n.845_846delinsAA | |
| 10 | g.87894078_87894079delinsAC | CA891840555 | PTEN | c.133_134delinsAC (p.Val45Thr) n.899+13640_899+13641delinsAC c.*168_*169delinsAC (n.*168_*169delinsAC) c.*275+13640_*275+13641delinsAC (n.*275+13640_*275+13641delinsAC) c.2_3delinsAC c.652_653delinsAC (p.Val218Thr) n.135_136delinsAC c.31_32delinsAC (p.Val11Thr) c.-573_-572delinsAC (n.-573_-572delinsAC) c.68+13640_68+13641delinsAC (n.68+13640_68+13641delinsAC) n.845_846delinsAC | |
| 10 | g.87894078_87894079delinsAG | CA891835179 | PTEN | c.133_134delinsAG (p.Val45Arg) n.899+13640_899+13641delinsAG c.*168_*169delinsAG (n.*168_*169delinsAG) c.*275+13640_*275+13641delinsAG (n.*275+13640_*275+13641delinsAG) c.2_3delinsAG c.652_653delinsAG (p.Val218Arg) n.135_136delinsAG c.31_32delinsAG (p.Val11Arg) c.-573_-572delinsAG (n.-573_-572delinsAG) c.68+13640_68+13641delinsAG (n.68+13640_68+13641delinsAG) n.845_846delinsAG | |
| 10 | g.87894078_87894079delinsCA | CA891840552 | PTEN | c.133_134delinsCA (p.Val45Gln) n.899+13640_899+13641delinsCA c.*168_*169delinsCA (n.*168_*169delinsCA) c.*275+13640_*275+13641delinsCA (n.*275+13640_*275+13641delinsCA) c.2_3delinsCA c.652_653delinsCA (p.Val218Gln) n.135_136delinsCA c.31_32delinsCA (p.Val11Gln) c.-573_-572delinsCA (n.-573_-572delinsCA) c.68+13640_68+13641delinsCA (n.68+13640_68+13641delinsCA) n.845_846delinsCA | |
| 10 | g.87894078_87894079delinsCC | CA891835180 | PTEN | c.133_134delinsCC (p.Val45Pro) n.899+13640_899+13641delinsCC c.*168_*169delinsCC (n.*168_*169delinsCC) c.*275+13640_*275+13641delinsCC (n.*275+13640_*275+13641delinsCC) c.2_3delinsCC c.652_653delinsCC (p.Val218Pro) n.135_136delinsCC c.31_32delinsCC (p.Val11Pro) c.-573_-572delinsCC (n.-573_-572delinsCC) c.68+13640_68+13641delinsCC (n.68+13640_68+13641delinsCC) n.845_846delinsCC | |
| 10 | g.87894078_87894079delinsCG | CA891840553 | PTEN | c.133_134delinsCG (p.Val45Arg) n.899+13640_899+13641delinsCG c.*168_*169delinsCG (n.*168_*169delinsCG) c.*275+13640_*275+13641delinsCG (n.*275+13640_*275+13641delinsCG) c.2_3delinsCG c.652_653delinsCG (p.Val218Arg) n.135_136delinsCG c.31_32delinsCG (p.Val11Arg) c.-573_-572delinsCG (n.-573_-572delinsCG) c.68+13640_68+13641delinsCG (n.68+13640_68+13641delinsCG) n.845_846delinsCG | |
| 10 | g.87894078_87894079delinsTA | CA891835177 | PTEN | c.133_134delinsTA (p.Val45Ter) n.899+13640_899+13641delinsTA c.*168_*169delinsTA (n.*168_*169delinsTA) c.*275+13640_*275+13641delinsTA (n.*275+13640_*275+13641delinsTA) c.2_3delinsTA c.652_653delinsTA (p.Val218Ter) n.135_136delinsTA c.31_32delinsTA (p.Val11Ter) c.-573_-572delinsTA (n.-573_-572delinsTA) c.68+13640_68+13641delinsTA (n.68+13640_68+13641delinsTA) n.845_846delinsTA | |
| 10 | g.87894078_87894079delinsTC | CA891840559 | PTEN | c.133_134delinsTC (p.Val45Ser) n.899+13640_899+13641delinsTC c.*168_*169delinsTC (n.*168_*169delinsTC) c.*275+13640_*275+13641delinsTC (n.*275+13640_*275+13641delinsTC) c.2_3delinsTC c.652_653delinsTC (p.Val218Ser) n.135_136delinsTC c.31_32delinsTC (p.Val11Ser) c.-573_-572delinsTC (n.-573_-572delinsTC) c.68+13640_68+13641delinsTC (n.68+13640_68+13641delinsTC) n.845_846delinsTC | |
| 10 | g.87894078_87894080del | CA2579927101 | PTEN | c.133_135del (p.Val45del) n.899+13640_899+13642del c.*168_*170del (n.*168_*170del) c.*275+13640_*275+13642del (n.*275+13640_*275+13642del) c.2_4del c.652_654del (p.Val218del) n.135_137del c.31_33del (p.Val11del) c.-573_-571del (n.-573_-571del) c.68+13640_68+13642del (n.68+13640_68+13642del) n.845_847del | |
| 10 | g.87894078_87894080delinsAAT | CA891835182 | PTEN | c.133_135delinsAAT (p.Val45Asn) n.899+13640_899+13642delinsAAT c.*168_*170delinsAAT (n.*168_*170delinsAAT) c.*275+13640_*275+13642delinsAAT (n.*275+13640_*275+13642delinsAAT) c.2_4delinsAAT c.652_654delinsAAT (p.Val218Asn) n.135_137delinsAAT c.31_33delinsAAT (p.Val11Asn) c.-573_-571delinsAAT (n.-573_-571delinsAAT) c.68+13640_68+13642delinsAAT (n.68+13640_68+13642delinsAAT) n.845_847delinsAAT | |
| 10 | g.87894078_87894080delinsACT | CA891835183 | PTEN | c.133_135delinsACT (p.Val45Thr) n.899+13640_899+13642delinsACT c.*168_*170delinsACT (n.*168_*170delinsACT) c.*275+13640_*275+13642delinsACT (n.*275+13640_*275+13642delinsACT) c.2_4delinsACT c.652_654delinsACT (p.Val218Thr) n.135_137delinsACT c.31_33delinsACT (p.Val11Thr) c.-573_-571delinsACT (n.-573_-571delinsACT) c.68+13640_68+13642delinsACT (n.68+13640_68+13642delinsACT) n.845_847delinsACT | |
| 10 | g.87894078_87894080delinsATG | CA891835188 | PTEN | c.133_135delinsATG (p.Val45Met) n.899+13640_899+13642delinsATG c.*168_*170delinsATG (n.*168_*170delinsATG) c.*275+13640_*275+13642delinsATG (n.*275+13640_*275+13642delinsATG) c.2_4delinsATG c.652_654delinsATG (p.Val218Met) n.135_137delinsATG c.31_33delinsATG (p.Val11Met) c.-573_-571delinsATG (n.-573_-571delinsATG) c.68+13640_68+13642delinsATG (n.68+13640_68+13642delinsATG) n.845_847delinsATG | |
| 10 | g.87894078_87894080delinsATT | CA891835190 | PTEN | c.133_135delinsATT (p.Val45Ile) n.899+13640_899+13642delinsATT c.*168_*170delinsATT (n.*168_*170delinsATT) c.*275+13640_*275+13642delinsATT (n.*275+13640_*275+13642delinsATT) c.2_4delinsATT c.652_654delinsATT (p.Val218Ile) n.135_137delinsATT c.31_33delinsATT (p.Val11Ile) c.-573_-571delinsATT (n.-573_-571delinsATT) c.68+13640_68+13642delinsATT (n.68+13640_68+13642delinsATT) n.845_847delinsATT | |
| 10 | g.87894078_87894080delinsCAT | CA891835178 | PTEN | c.133_135delinsCAT (p.Val45His) n.899+13640_899+13642delinsCAT c.*168_*170delinsCAT (n.*168_*170delinsCAT) c.*275+13640_*275+13642delinsCAT (n.*275+13640_*275+13642delinsCAT) c.2_4delinsCAT c.652_654delinsCAT (p.Val218His) n.135_137delinsCAT c.31_33delinsCAT (p.Val11His) c.-573_-571delinsCAT (n.-573_-571delinsCAT) c.68+13640_68+13642delinsCAT (n.68+13640_68+13642delinsCAT) n.845_847delinsCAT | |
| 10 | g.87894078_87894080delinsGTA | CA891840556 | PTEN | c.133_135delinsGTA (p.Val45=) n.899+13640_899+13642delinsGTA c.*168_*170delinsGTA (n.*168_*170delinsGTA) c.*275+13640_*275+13642delinsGTA (n.*275+13640_*275+13642delinsGTA) c.2_4delinsGTA c.652_654delinsGTA (p.Val218=) n.135_137delinsGTA c.31_33delinsGTA (p.Val11=) c.-573_-571delinsGTA (n.-573_-571delinsGTA) c.68+13640_68+13642delinsGTA (n.68+13640_68+13642delinsGTA) n.845_847delinsGTA | |
| 10 | g.87894078_87894080delinsTAT | CA891835185 | PTEN | c.133_135delinsTAT (p.Val45Tyr) n.899+13640_899+13642delinsTAT c.*168_*170delinsTAT (n.*168_*170delinsTAT) c.*275+13640_*275+13642delinsTAT (n.*275+13640_*275+13642delinsTAT) c.2_4delinsTAT c.652_654delinsTAT (p.Val218Tyr) n.135_137delinsTAT c.31_33delinsTAT (p.Val11Tyr) c.-573_-571delinsTAT (n.-573_-571delinsTAT) c.68+13640_68+13642delinsTAT (n.68+13640_68+13642delinsTAT) n.845_847delinsTAT | |
| 10 | g.87894078_87894080delinsTCT | CA891835192 | PTEN | c.133_135delinsTCT (p.Val45Ser) n.899+13640_899+13642delinsTCT c.*168_*170delinsTCT (n.*168_*170delinsTCT) c.*275+13640_*275+13642delinsTCT (n.*275+13640_*275+13642delinsTCT) c.2_4delinsTCT c.652_654delinsTCT (p.Val218Ser) n.135_137delinsTCT c.31_33delinsTCT (p.Val11Ser) c.-573_-571delinsTCT (n.-573_-571delinsTCT) c.68+13640_68+13642delinsTCT (n.68+13640_68+13642delinsTCT) n.845_847delinsTCT | |
| 10 | g.87894078_87894080delinsTGG | CA891835184 | PTEN | c.133_135delinsTGG (p.Val45Trp) n.899+13640_899+13642delinsTGG c.*168_*170delinsTGG (n.*168_*170delinsTGG) c.*275+13640_*275+13642delinsTGG (n.*275+13640_*275+13642delinsTGG) c.2_4delinsTGG c.652_654delinsTGG (p.Val218Trp) n.135_137delinsTGG c.31_33delinsTGG (p.Val11Trp) c.-573_-571delinsTGG (n.-573_-571delinsTGG) c.68+13640_68+13642delinsTGG (n.68+13640_68+13642delinsTGG) n.845_847delinsTGG | |
| 10 | g.87894078_87894080delinsTGT | CA891835181 | PTEN | c.133_135delinsTGT (p.Val45Cys) n.899+13640_899+13642delinsTGT c.*168_*170delinsTGT (n.*168_*170delinsTGT) c.*275+13640_*275+13642delinsTGT (n.*275+13640_*275+13642delinsTGT) c.2_4delinsTGT c.652_654delinsTGT (p.Val218Cys) n.135_137delinsTGT c.31_33delinsTGT (p.Val11Cys) c.-573_-571delinsTGT (n.-573_-571delinsTGT) c.68+13640_68+13642delinsTGT (n.68+13640_68+13642delinsTGT) n.845_847delinsTGT | |
| 10 | g.87894078_87894080delinsTTG | CA891835189 | PTEN | c.133_135delinsTTG (p.Val45Leu) n.899+13640_899+13642delinsTTG c.*168_*170delinsTTG (n.*168_*170delinsTTG) c.*275+13640_*275+13642delinsTTG (n.*275+13640_*275+13642delinsTTG) c.2_4delinsTTG c.652_654delinsTTG (p.Val218Leu) n.135_137delinsTTG c.31_33delinsTTG (p.Val11Leu) c.-573_-571delinsTTG (n.-573_-571delinsTTG) c.68+13640_68+13642delinsTTG (n.68+13640_68+13642delinsTTG) n.845_847delinsTTG | |
| 10 | g.87894078_87894080delinsTTT | CA891835186 | PTEN | c.133_135delinsTTT (p.Val45Phe) n.899+13640_899+13642delinsTTT c.*168_*170delinsTTT (n.*168_*170delinsTTT) c.*275+13640_*275+13642delinsTTT (n.*275+13640_*275+13642delinsTTT) c.2_4delinsTTT c.652_654delinsTTT (p.Val218Phe) n.135_137delinsTTT c.31_33delinsTTT (p.Val11Phe) c.-573_-571delinsTTT (n.-573_-571delinsTTT) c.68+13640_68+13642delinsTTT (n.68+13640_68+13642delinsTTT) n.845_847delinsTTT | |
| 10 | g.87894079T>A | CA377784544 | PTEN | c.134T>A (p.Val45Glu) n.899+13641T>A c.*169T>A (n.*169T>A) c.*275+13641T>A (n.*275+13641T>A) c.3T>A c.653T>A (p.Val218Glu) n.136T>A c.32T>A (p.Val11Glu) c.-572T>A (n.-572T>A) c.68+13641T>A (n.68+13641T>A) n.846T>A | dbSNP |
| 10 | g.87894079T>C | CA377784545 | PTEN | c.134T>C (p.Val45Ala) n.899+13641T>C c.*169T>C (n.*169T>C) c.*275+13641T>C (n.*275+13641T>C) c.3T>C c.653T>C (p.Val218Ala) n.136T>C c.32T>C (p.Val11Ala) c.-572T>C (n.-572T>C) c.68+13641T>C (n.68+13641T>C) n.846T>C | dbSNP COSMIC |
| 10 | g.87894079T>G | CA377784546 | PTEN | c.134T>G (p.Val45Gly) n.899+13641T>G c.*169T>G (n.*169T>G) c.*275+13641T>G (n.*275+13641T>G) c.3T>G c.653T>G (p.Val218Gly) n.136T>G c.32T>G (p.Val11Gly) c.-572T>G (n.-572T>G) c.68+13641T>G (n.68+13641T>G) n.846T>G | dbSNP |
| 10 | g.87894079_87894080delinsAT | CA891840566 | PTEN | c.134_135delinsAT (p.Val45Asp) n.899+13641_899+13642delinsAT c.*169_*170delinsAT (n.*169_*170delinsAT) c.*275+13641_*275+13642delinsAT (n.*275+13641_*275+13642delinsAT) c.3_4delinsAT c.653_654delinsAT (p.Val218Asp) n.136_137delinsAT c.32_33delinsAT (p.Val11Asp) c.-572_-571delinsAT (n.-572_-571delinsAT) c.68+13641_68+13642delinsAT (n.68+13641_68+13642delinsAT) n.846_847delinsAT | |
| 10 | g.87894079_87894080delinsCT | CA891835195 | PTEN | c.134_135delinsCT (p.Val45Ala) n.899+13641_899+13642delinsCT c.*169_*170delinsCT (n.*169_*170delinsCT) c.*275+13641_*275+13642delinsCT (n.*275+13641_*275+13642delinsCT) c.3_4delinsCT c.653_654delinsCT (p.Val218Ala) n.136_137delinsCT c.32_33delinsCT (p.Val11Ala) c.-572_-571delinsCT (n.-572_-571delinsCT) c.68+13641_68+13642delinsCT (n.68+13641_68+13642delinsCT) n.846_847delinsCT | |
| 10 | g.87894079_87894080delinsGT | CA891835194 | PTEN | c.134_135delinsGT (p.Val45Gly) n.899+13641_899+13642delinsGT c.*169_*170delinsGT (n.*169_*170delinsGT) c.*275+13641_*275+13642delinsGT (n.*275+13641_*275+13642delinsGT) c.3_4delinsGT c.653_654delinsGT (p.Val218Gly) n.136_137delinsGT c.32_33delinsGT (p.Val11Gly) c.-572_-571delinsGT (n.-572_-571delinsGT) c.68+13641_68+13642delinsGT (n.68+13641_68+13642delinsGT) n.846_847delinsGT | |
| 10 | g.87894079_87894080insCA | CA645559019 | PTEN | c.134_135insCA (p.Tyr46AsnfsTer9) n.899+13641_899+13642insCA c.*169_*170insCA (n.*169_*170insCA) c.*275+13641_*275+13642insCA (n.*275+13641_*275+13642insCA) c.3_4insCA c.653_654insCA (p.Tyr219AsnfsTer9) n.136_137insCA c.32_33insCA (p.Tyr12AsnfsTer9) c.-572_-571insCA (n.-572_-571insCA) c.68+13641_68+13642insCA (n.68+13641_68+13642insCA) n.846_847insCA | COSMIC |
| 10 | g.87894080A= | CA1926157268 | PTEN | c.135A= (p.Val45=) n.899+13642A= c.*170A= (n.*170A=) c.*275+13642A= (n.*275+13642A=) c.4A= c.654A= (p.Val218=) n.137A= c.33A= (p.Val11=) c.-571A= (n.-571A=) c.68+13642A= (n.68+13642A=) n.847A= | |
| 10 | g.87894080A>C | CA470879034 | PTEN | c.135A>C (p.Val45=) n.899+13642A>C c.*170A>C (n.*170A>C) c.*275+13642A>C (n.*275+13642A>C) c.4A>C c.654A>C (p.Val218=) n.137A>C c.33A>C (p.Val11=) c.-571A>C (n.-571A>C) c.68+13642A>C (n.68+13642A>C) n.847A>C | |
| 10 | g.87894080A>G | CA211469752 | PTEN | c.135A>G (p.Val45=) n.899+13642A>G c.*170A>G (n.*170A>G) c.*275+13642A>G (n.*275+13642A>G) c.4A>G c.654A>G (p.Val218=) n.137A>G c.33A>G (p.Val11=) c.-571A>G (n.-571A>G) c.68+13642A>G (n.68+13642A>G) n.847A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.87894080A>T | CA470879033 | PTEN | c.135A>T (p.Val45=) n.899+13642A>T c.*170A>T (n.*170A>T) c.*275+13642A>T (n.*275+13642A>T) c.4A>T c.654A>T (p.Val218=) n.137A>T c.33A>T (p.Val11=) c.-571A>T (n.-571A>T) c.68+13642A>T (n.68+13642A>T) n.847A>T | |
| 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.87894081T>A | CA377784547 | PTEN | c.136T>A (p.Tyr46Asn) n.899+13643T>A c.*171T>A (n.*171T>A) c.*275+13643T>A (n.*275+13643T>A) c.5T>A c.655T>A (p.Tyr219Asn) n.138T>A c.34T>A (p.Tyr12Asn) c.-570T>A (n.-570T>A) c.68+13643T>A (n.68+13643T>A) n.848T>A | |
| 10 | g.87894081T>C | CA377784548 | PTEN | c.136T>C (p.Tyr46His) n.899+13643T>C c.*171T>C (n.*171T>C) c.*275+13643T>C (n.*275+13643T>C) c.5T>C c.655T>C (p.Tyr219His) n.138T>C c.34T>C (p.Tyr12His) c.-570T>C (n.-570T>C) c.68+13643T>C (n.68+13643T>C) n.848T>C | ClinVar dbSNP COSMIC |
| 10 | g.87894081T>G | CA16619046 | PTEN | c.136T>G (p.Tyr46Asp) n.899+13643T>G c.*171T>G (n.*171T>G) c.*275+13643T>G (n.*275+13643T>G) c.5T>G c.655T>G (p.Tyr219Asp) n.138T>G c.34T>G (p.Tyr12Asp) c.-570T>G (n.-570T>G) c.68+13643T>G (n.68+13643T>G) n.848T>G | ClinVar dbSNP COSMIC |
| 10 | g.87894081T= | CA1926157278 | PTEN | c.136T= (p.Tyr46=) n.899+13643T= c.*171T= (n.*171T=) c.*275+13643T= (n.*275+13643T=) c.5T= c.655T= (p.Tyr219=) n.138T= c.34T= (p.Tyr12=) c.-570T= (n.-570T=) c.68+13643T= (n.68+13643T=) n.848T= | |
| 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 |