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 |
|---|---|---|---|---|---|
| 9 | g.135765024C= | CA1883866277 | KCNT1 | c.1036-7C= (n.1036-7C=) c.877-7C= (n.877-7C=) c.784-7C= (n.784-7C=) c.793-7C= (n.793-7C=) c.937-7C= (n.937-7C=) c.*646-7C= (n.*646-7C=) c.919-7C= (n.919-7C=) c.979-7C= (n.979-7C=) n.855-7C= c.901-7C= (n.901-7C=) c.1171-7C= (n.1171-7C=) c.1180-7C= (n.1180-7C=) c.526-7C= (n.526-7C=) c.970-7C= (n.970-7C=) | |
| 9 | g.135765024C>T | CA5326757 | KCNT1 | c.1036-7C>T (n.1036-7C>T) c.877-7C>T (n.877-7C>T) c.784-7C>T (n.784-7C>T) c.793-7C>T (n.793-7C>T) c.937-7C>T (n.937-7C>T) c.*646-7C>T (n.*646-7C>T) c.919-7C>T (n.919-7C>T) c.979-7C>T (n.979-7C>T) n.855-7C>T c.901-7C>T (n.901-7C>T) c.1171-7C>T (n.1171-7C>T) c.1180-7C>T (n.1180-7C>T) c.526-7C>T (n.526-7C>T) c.970-7C>T (n.970-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.135765025C>T | CA2579510778 | KCNT1 | c.1036-6C>T (n.1036-6C>T) c.877-6C>T (n.877-6C>T) c.784-6C>T (n.784-6C>T) c.793-6C>T (n.793-6C>T) c.937-6C>T (n.937-6C>T) c.*646-6C>T (n.*646-6C>T) c.919-6C>T (n.919-6C>T) c.979-6C>T (n.979-6C>T) n.855-6C>T c.901-6C>T (n.901-6C>T) c.1171-6C>T (n.1171-6C>T) c.1180-6C>T (n.1180-6C>T) c.526-6C>T (n.526-6C>T) c.970-6C>T (n.970-6C>T) | |
| 9 | g.135765026T>C | CA2692516068 | KCNT1 | c.1036-5T>C (n.1036-5T>C) c.877-5T>C (n.877-5T>C) c.784-5T>C (n.784-5T>C) c.793-5T>C (n.793-5T>C) c.937-5T>C (n.937-5T>C) c.*646-5T>C (n.*646-5T>C) c.919-5T>C (n.919-5T>C) c.979-5T>C (n.979-5T>C) n.855-5T>C c.901-5T>C (n.901-5T>C) c.1171-5T>C (n.1171-5T>C) c.1180-5T>C (n.1180-5T>C) c.526-5T>C (n.526-5T>C) c.970-5T>C (n.970-5T>C) | gnomAD v4 |
| 9 | g.135765028C= | CA1883866278 | KCNT1 | c.1036-3C= (n.1036-3C=) c.877-3C= (n.877-3C=) c.784-3C= (n.784-3C=) c.793-3C= (n.793-3C=) c.937-3C= (n.937-3C=) c.*646-3C= (n.*646-3C=) c.919-3C= (n.919-3C=) c.979-3C= (n.979-3C=) n.855-3C= c.901-3C= (n.901-3C=) c.1171-3C= (n.1171-3C=) c.1180-3C= (n.1180-3C=) c.526-3C= (n.526-3C=) c.970-3C= (n.970-3C=) | |
| 9 | g.135765028C>T | CA5326758 | KCNT1 | c.1036-3C>T (n.1036-3C>T) c.877-3C>T (n.877-3C>T) c.784-3C>T (n.784-3C>T) c.793-3C>T (n.793-3C>T) c.937-3C>T (n.937-3C>T) c.*646-3C>T (n.*646-3C>T) c.919-3C>T (n.919-3C>T) c.979-3C>T (n.979-3C>T) n.855-3C>T c.901-3C>T (n.901-3C>T) c.1171-3C>T (n.1171-3C>T) c.1180-3C>T (n.1180-3C>T) c.526-3C>T (n.526-3C>T) c.970-3C>T (n.970-3C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765029A>C | CA375499782 | KCNT1 | c.1036-2A>C (n.1036-2A>C) c.877-2A>C (n.877-2A>C) c.784-2A>C (n.784-2A>C) c.793-2A>C (n.793-2A>C) c.937-2A>C (n.937-2A>C) c.*646-2A>C (n.*646-2A>C) c.919-2A>C (n.919-2A>C) c.979-2A>C (n.979-2A>C) n.855-2A>C c.901-2A>C (n.901-2A>C) c.1171-2A>C (n.1171-2A>C) c.1180-2A>C (n.1180-2A>C) c.526-2A>C (n.526-2A>C) c.970-2A>C (n.970-2A>C) | |
| 9 | g.135765029A>G | CA375499778 | KCNT1 | c.1036-2A>G (n.1036-2A>G) c.877-2A>G (n.877-2A>G) c.784-2A>G (n.784-2A>G) c.793-2A>G (n.793-2A>G) c.937-2A>G (n.937-2A>G) c.*646-2A>G (n.*646-2A>G) c.919-2A>G (n.919-2A>G) c.979-2A>G (n.979-2A>G) n.855-2A>G c.901-2A>G (n.901-2A>G) c.1171-2A>G (n.1171-2A>G) c.1180-2A>G (n.1180-2A>G) c.526-2A>G (n.526-2A>G) c.970-2A>G (n.970-2A>G) | |
| 9 | g.135765029A>T | CA375499780 | KCNT1 | c.1036-2A>T (n.1036-2A>T) c.877-2A>T (n.877-2A>T) c.784-2A>T (n.784-2A>T) c.793-2A>T (n.793-2A>T) c.937-2A>T (n.937-2A>T) c.*646-2A>T (n.*646-2A>T) c.919-2A>T (n.919-2A>T) c.979-2A>T (n.979-2A>T) n.855-2A>T c.901-2A>T (n.901-2A>T) c.1171-2A>T (n.1171-2A>T) c.1180-2A>T (n.1180-2A>T) c.526-2A>T (n.526-2A>T) c.970-2A>T (n.970-2A>T) | |
| 9 | g.135765030G>A | CA375499783 | KCNT1 | c.1036-1G>A (n.1036-1G>A) c.877-1G>A (n.877-1G>A) c.784-1G>A (n.784-1G>A) c.793-1G>A (n.793-1G>A) c.937-1G>A (n.937-1G>A) c.*646-1G>A (n.*646-1G>A) c.919-1G>A (n.919-1G>A) c.979-1G>A (n.979-1G>A) n.855-1G>A c.901-1G>A (n.901-1G>A) c.1171-1G>A (n.1171-1G>A) c.1180-1G>A (n.1180-1G>A) c.526-1G>A (n.526-1G>A) c.970-1G>A (n.970-1G>A) | |
| 9 | g.135765030G>C | CA375499785 | KCNT1 | c.1036-1G>C (n.1036-1G>C) c.877-1G>C (n.877-1G>C) c.784-1G>C (n.784-1G>C) c.793-1G>C (n.793-1G>C) c.937-1G>C (n.937-1G>C) c.*646-1G>C (n.*646-1G>C) c.919-1G>C (n.919-1G>C) c.979-1G>C (n.979-1G>C) n.855-1G>C c.901-1G>C (n.901-1G>C) c.1171-1G>C (n.1171-1G>C) c.1180-1G>C (n.1180-1G>C) c.526-1G>C (n.526-1G>C) c.970-1G>C (n.970-1G>C) | |
| 9 | g.135765030G>T | CA375499787 | KCNT1 | c.1036-1G>T (n.1036-1G>T) c.877-1G>T (n.877-1G>T) c.784-1G>T (n.784-1G>T) c.793-1G>T (n.793-1G>T) c.937-1G>T (n.937-1G>T) c.*646-1G>T (n.*646-1G>T) c.919-1G>T (n.919-1G>T) c.979-1G>T (n.979-1G>T) n.855-1G>T c.901-1G>T (n.901-1G>T) c.1171-1G>T (n.1171-1G>T) c.1180-1G>T (n.1180-1G>T) c.526-1G>T (n.526-1G>T) c.970-1G>T (n.970-1G>T) | |
| 9 | g.135765031T>A | CA375499789 | KCNT1 | c.1036T>A (p.Phe346Ile) c.877T>A (p.Phe293Ile) c.784T>A (p.Phe262Ile) c.793T>A (p.Phe265Ile) c.937T>A (p.Phe313Ile) c.*646T>A (n.*646T>A) c.919T>A (p.Phe307Ile) c.979T>A (p.Phe327Ile) n.855T>A c.901T>A (p.Phe301Ile) c.1171T>A (p.Phe391Ile) c.1180T>A (p.Phe394Ile) c.526T>A (p.Phe176Ile) c.970T>A (p.Phe324Ile) | |
| 9 | g.135765031T>C | CA375499790 | KCNT1 | c.1036T>C (p.Phe346Leu) c.877T>C (p.Phe293Leu) c.784T>C (p.Phe262Leu) c.793T>C (p.Phe265Leu) c.937T>C (p.Phe313Leu) c.*646T>C (n.*646T>C) c.919T>C (p.Phe307Leu) c.979T>C (p.Phe327Leu) n.855T>C c.901T>C (p.Phe301Leu) c.1171T>C (p.Phe391Leu) c.1180T>C (p.Phe394Leu) c.526T>C (p.Phe176Leu) c.970T>C (p.Phe324Leu) | |
| 9 | g.135765031T>G | CA375499791 | KCNT1 | c.1036T>G (p.Phe346Val) c.877T>G (p.Phe293Val) c.784T>G (p.Phe262Val) c.793T>G (p.Phe265Val) c.937T>G (p.Phe313Val) c.*646T>G (n.*646T>G) c.919T>G (p.Phe307Val) c.979T>G (p.Phe327Val) n.855T>G c.901T>G (p.Phe301Val) c.1171T>G (p.Phe391Val) c.1180T>G (p.Phe394Val) c.526T>G (p.Phe176Val) c.970T>G (p.Phe324Val) | |
| 9 | g.135765032T>A | CA375499792 | KCNT1 | c.1037T>A (p.Phe346Tyr) c.878T>A (p.Phe293Tyr) c.785T>A (p.Phe262Tyr) c.794T>A (p.Phe265Tyr) c.938T>A (p.Phe313Tyr) c.*647T>A (n.*647T>A) c.920T>A (p.Phe307Tyr) c.980T>A (p.Phe327Tyr) n.856T>A c.902T>A (p.Phe301Tyr) c.1172T>A (p.Phe391Tyr) c.1181T>A (p.Phe394Tyr) c.527T>A (p.Phe176Tyr) c.971T>A (p.Phe324Tyr) | |
| 9 | g.135765032T>C | CA375499793 | KCNT1 | c.1037T>C (p.Phe346Ser) c.878T>C (p.Phe293Ser) c.785T>C (p.Phe262Ser) c.794T>C (p.Phe265Ser) c.938T>C (p.Phe313Ser) c.*647T>C (n.*647T>C) c.920T>C (p.Phe307Ser) c.980T>C (p.Phe327Ser) n.856T>C c.902T>C (p.Phe301Ser) c.1172T>C (p.Phe391Ser) c.1181T>C (p.Phe394Ser) c.527T>C (p.Phe176Ser) c.971T>C (p.Phe324Ser) | |
| 9 | g.135765032T>G | CA375499794 | KCNT1 | c.1037T>G (p.Phe346Cys) c.878T>G (p.Phe293Cys) c.785T>G (p.Phe262Cys) c.794T>G (p.Phe265Cys) c.938T>G (p.Phe313Cys) c.*647T>G (n.*647T>G) c.920T>G (p.Phe307Cys) c.980T>G (p.Phe327Cys) n.856T>G c.902T>G (p.Phe301Cys) c.1172T>G (p.Phe391Cys) c.1181T>G (p.Phe394Cys) c.527T>G (p.Phe176Cys) c.971T>G (p.Phe324Cys) | |
| 9 | g.135765033C>A | CA375499795 | KCNT1 | c.1038C>A (p.Phe346Leu) c.879C>A (p.Phe293Leu) c.786C>A (p.Phe262Leu) c.795C>A (p.Phe265Leu) c.939C>A (p.Phe313Leu) c.*648C>A (n.*648C>A) c.921C>A (p.Phe307Leu) c.981C>A (p.Phe327Leu) n.857C>A c.903C>A (p.Phe301Leu) c.1173C>A (p.Phe391Leu) c.1182C>A (p.Phe394Leu) c.528C>A (p.Phe176Leu) c.972C>A (p.Phe324Leu) | ClinVar dbSNP |
| 9 | g.135765033C= | CA1883866279 | KCNT1 | c.1038C= (p.Phe346=) c.879C= (p.Phe293=) c.786C= (p.Phe262=) c.795C= (p.Phe265=) c.939C= (p.Phe313=) c.*648C= (n.*648C=) c.921C= (p.Phe307=) c.981C= (p.Phe327=) n.857C= c.903C= (p.Phe301=) c.1173C= (p.Phe391=) c.1182C= (p.Phe394=) c.528C= (p.Phe176=) c.972C= (p.Phe324=) | |
| 9 | g.135765033C>G | CA375499796 | KCNT1 | c.1038C>G (p.Phe346Leu) c.879C>G (p.Phe293Leu) c.786C>G (p.Phe262Leu) c.795C>G (p.Phe265Leu) c.939C>G (p.Phe313Leu) c.*648C>G (n.*648C>G) c.921C>G (p.Phe307Leu) c.981C>G (p.Phe327Leu) n.857C>G c.903C>G (p.Phe301Leu) c.1173C>G (p.Phe391Leu) c.1182C>G (p.Phe394Leu) c.528C>G (p.Phe176Leu) c.972C>G (p.Phe324Leu) | ClinVar dbSNP |
| 9 | g.135765033C>T | CA5326759 | KCNT1 | c.1038C>T (p.Phe346=) c.879C>T (p.Phe293=) c.786C>T (p.Phe262=) c.795C>T (p.Phe265=) c.939C>T (p.Phe313=) c.*648C>T (n.*648C>T) c.921C>T (p.Phe307=) c.981C>T (p.Phe327=) n.857C>T c.903C>T (p.Phe301=) c.1173C>T (p.Phe391=) c.1182C>T (p.Phe394=) c.528C>T (p.Phe176=) c.972C>T (p.Phe324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.135765034G>A | CA201465084 | KCNT1 | c.1039G>A (p.Glu347Lys) c.880G>A (p.Glu294Lys) c.787G>A (p.Glu263Lys) c.796G>A (p.Glu266Lys) c.940G>A (p.Glu314Lys) c.*649G>A (n.*649G>A) c.922G>A (p.Glu308Lys) c.982G>A (p.Glu328Lys) n.858G>A c.904G>A (p.Glu302Lys) c.1174G>A (p.Glu392Lys) c.1183G>A (p.Glu395Lys) c.529G>A (p.Glu177Lys) c.973G>A (p.Glu325Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.135765034G>C | CA375499798 | KCNT1 | c.1039G>C (p.Glu347Gln) c.880G>C (p.Glu294Gln) c.787G>C (p.Glu263Gln) c.796G>C (p.Glu266Gln) c.940G>C (p.Glu314Gln) c.*649G>C (n.*649G>C) c.922G>C (p.Glu308Gln) c.982G>C (p.Glu328Gln) n.858G>C c.904G>C (p.Glu302Gln) c.1174G>C (p.Glu392Gln) c.1183G>C (p.Glu395Gln) c.529G>C (p.Glu177Gln) c.973G>C (p.Glu325Gln) | |
| 9 | g.135765034G= | CA1883866280 | KCNT1 | c.1039G= (p.Glu347=) c.880G= (p.Glu294=) c.787G= (p.Glu263=) c.796G= (p.Glu266=) c.940G= (p.Glu314=) c.*649G= (n.*649G=) c.922G= (p.Glu308=) c.982G= (p.Glu328=) n.858G= c.904G= (p.Glu302=) c.1174G= (p.Glu392=) c.1183G= (p.Glu395=) c.529G= (p.Glu177=) c.973G= (p.Glu325=) | |
| 9 | g.135765034G>T | CA375499797 | KCNT1 | c.1039G>T (p.Glu347Ter) c.880G>T (p.Glu294Ter) c.787G>T (p.Glu263Ter) c.796G>T (p.Glu266Ter) c.940G>T (p.Glu314Ter) c.*649G>T (n.*649G>T) c.922G>T (p.Glu308Ter) c.982G>T (p.Glu328Ter) n.858G>T c.904G>T (p.Glu302Ter) c.1174G>T (p.Glu392Ter) c.1183G>T (p.Glu395Ter) c.529G>T (p.Glu177Ter) c.973G>T (p.Glu325Ter) | |
| 9 | g.135765035A>C | CA375499801 | KCNT1 | c.1040A>C (p.Glu347Ala) c.881A>C (p.Glu294Ala) c.788A>C (p.Glu263Ala) c.797A>C (p.Glu266Ala) c.941A>C (p.Glu314Ala) c.*650A>C (n.*650A>C) c.923A>C (p.Glu308Ala) c.983A>C (p.Glu328Ala) n.859A>C c.905A>C (p.Glu302Ala) c.1175A>C (p.Glu392Ala) c.1184A>C (p.Glu395Ala) c.530A>C (p.Glu177Ala) c.974A>C (p.Glu325Ala) | |
| 9 | g.135765035A>G | CA375499799 | KCNT1 | c.1040A>G (p.Glu347Gly) c.881A>G (p.Glu294Gly) c.788A>G (p.Glu263Gly) c.797A>G (p.Glu266Gly) c.941A>G (p.Glu314Gly) c.*650A>G (n.*650A>G) c.923A>G (p.Glu308Gly) c.983A>G (p.Glu328Gly) n.859A>G c.905A>G (p.Glu302Gly) c.1175A>G (p.Glu392Gly) c.1184A>G (p.Glu395Gly) c.530A>G (p.Glu177Gly) c.974A>G (p.Glu325Gly) | |
| 9 | g.135765035A>T | CA375499800 | KCNT1 | c.1040A>T (p.Glu347Val) c.881A>T (p.Glu294Val) c.788A>T (p.Glu263Val) c.797A>T (p.Glu266Val) c.941A>T (p.Glu314Val) c.*650A>T (n.*650A>T) c.923A>T (p.Glu308Val) c.983A>T (p.Glu328Val) n.859A>T c.905A>T (p.Glu302Val) c.1175A>T (p.Glu392Val) c.1184A>T (p.Glu395Val) c.530A>T (p.Glu177Val) c.974A>T (p.Glu325Val) | |
| 9 | g.135765036G>A | CA467697913 | KCNT1 | c.1041G>A (p.Glu347=) c.882G>A (p.Glu294=) c.789G>A (p.Glu263=) c.798G>A (p.Glu266=) c.942G>A (p.Glu314=) c.*651G>A (n.*651G>A) c.924G>A (p.Glu308=) c.984G>A (p.Glu328=) n.860G>A c.906G>A (p.Glu302=) c.1176G>A (p.Glu392=) c.1185G>A (p.Glu395=) c.531G>A (p.Glu177=) c.975G>A (p.Glu325=) | |
| 9 | g.135765036G>C | CA375499802 | KCNT1 | c.1041G>C (p.Glu347Asp) c.882G>C (p.Glu294Asp) c.789G>C (p.Glu263Asp) c.798G>C (p.Glu266Asp) c.942G>C (p.Glu314Asp) c.*651G>C (n.*651G>C) c.924G>C (p.Glu308Asp) c.984G>C (p.Glu328Asp) n.860G>C c.906G>C (p.Glu302Asp) c.1176G>C (p.Glu392Asp) c.1185G>C (p.Glu395Asp) c.531G>C (p.Glu177Asp) c.975G>C (p.Glu325Asp) | |
| 9 | g.135765036G>T | CA375499803 | KCNT1 | c.1041G>T (p.Glu347Asp) c.882G>T (p.Glu294Asp) c.789G>T (p.Glu263Asp) c.798G>T (p.Glu266Asp) c.942G>T (p.Glu314Asp) c.*651G>T (n.*651G>T) c.924G>T (p.Glu308Asp) c.984G>T (p.Glu328Asp) n.860G>T c.906G>T (p.Glu302Asp) c.1176G>T (p.Glu392Asp) c.1185G>T (p.Glu395Asp) c.531G>T (p.Glu177Asp) c.975G>T (p.Glu325Asp) | |
| 9 | g.135765037G>A | CA375499805 | KCNT1 | c.1042G>A (p.Glu348Lys) c.883G>A (p.Glu295Lys) c.790G>A (p.Glu264Lys) c.799G>A (p.Glu267Lys) c.943G>A (p.Glu315Lys) c.*652G>A (n.*652G>A) c.925G>A (p.Glu309Lys) c.985G>A (p.Glu329Lys) n.861G>A c.907G>A (p.Glu303Lys) c.1177G>A (p.Glu393Lys) c.1186G>A (p.Glu396Lys) c.532G>A (p.Glu178Lys) c.976G>A (p.Glu326Lys) | |
| 9 | g.135765037G>C | CA375499806 | KCNT1 | c.1042G>C (p.Glu348Gln) c.883G>C (p.Glu295Gln) c.790G>C (p.Glu264Gln) c.799G>C (p.Glu267Gln) c.943G>C (p.Glu315Gln) c.*652G>C (n.*652G>C) c.925G>C (p.Glu309Gln) c.985G>C (p.Glu329Gln) n.861G>C c.907G>C (p.Glu303Gln) c.1177G>C (p.Glu393Gln) c.1186G>C (p.Glu396Gln) c.532G>C (p.Glu178Gln) c.976G>C (p.Glu326Gln) | |
| 9 | g.135765037G>T | CA375499807 | KCNT1 | c.1042G>T (p.Glu348Ter) c.883G>T (p.Glu295Ter) c.790G>T (p.Glu264Ter) c.799G>T (p.Glu267Ter) c.943G>T (p.Glu315Ter) c.*652G>T (n.*652G>T) c.925G>T (p.Glu309Ter) c.985G>T (p.Glu329Ter) n.861G>T c.907G>T (p.Glu303Ter) c.1177G>T (p.Glu393Ter) c.1186G>T (p.Glu396Ter) c.532G>T (p.Glu178Ter) c.976G>T (p.Glu326Ter) | |
| 9 | g.135765038A>C | CA375499809 | KCNT1 | c.1043A>C (p.Glu348Ala) c.884A>C (p.Glu295Ala) c.791A>C (p.Glu264Ala) c.800A>C (p.Glu267Ala) c.944A>C (p.Glu315Ala) c.*653A>C (n.*653A>C) c.926A>C (p.Glu309Ala) c.986A>C (p.Glu329Ala) n.862A>C c.908A>C (p.Glu303Ala) c.1178A>C (p.Glu393Ala) c.1187A>C (p.Glu396Ala) c.533A>C (p.Glu178Ala) c.977A>C (p.Glu326Ala) | |
| 9 | g.135765038A>G | CA375499811 | KCNT1 | c.1043A>G (p.Glu348Gly) c.884A>G (p.Glu295Gly) c.791A>G (p.Glu264Gly) c.800A>G (p.Glu267Gly) c.944A>G (p.Glu315Gly) c.*653A>G (n.*653A>G) c.926A>G (p.Glu309Gly) c.986A>G (p.Glu329Gly) n.862A>G c.908A>G (p.Glu303Gly) c.1178A>G (p.Glu393Gly) c.1187A>G (p.Glu396Gly) c.533A>G (p.Glu178Gly) c.977A>G (p.Glu326Gly) | |
| 9 | g.135765038A>T | CA375499813 | KCNT1 | c.1043A>T (p.Glu348Val) c.884A>T (p.Glu295Val) c.791A>T (p.Glu264Val) c.800A>T (p.Glu267Val) c.944A>T (p.Glu315Val) c.*653A>T (n.*653A>T) c.926A>T (p.Glu309Val) c.986A>T (p.Glu329Val) n.862A>T c.908A>T (p.Glu303Val) c.1178A>T (p.Glu393Val) c.1187A>T (p.Glu396Val) c.533A>T (p.Glu178Val) c.977A>T (p.Glu326Val) | |
| 9 | g.135765039G>A | CA467697931 | KCNT1 | c.1044G>A (p.Glu348=) c.885G>A (p.Glu295=) c.792G>A (p.Glu264=) c.801G>A (p.Glu267=) c.945G>A (p.Glu315=) c.*654G>A (n.*654G>A) c.927G>A (p.Glu309=) c.987G>A (p.Glu329=) n.863G>A c.909G>A (p.Glu303=) c.1179G>A (p.Glu393=) c.1188G>A (p.Glu396=) c.534G>A (p.Glu178=) c.978G>A (p.Glu326=) | dbSNP gnomAD v4 |
| 9 | g.135765039G>C | CA375499815 | KCNT1 | c.1044G>C (p.Glu348Asp) c.885G>C (p.Glu295Asp) c.792G>C (p.Glu264Asp) c.801G>C (p.Glu267Asp) c.945G>C (p.Glu315Asp) c.*654G>C (n.*654G>C) c.927G>C (p.Glu309Asp) c.987G>C (p.Glu329Asp) n.863G>C c.909G>C (p.Glu303Asp) c.1179G>C (p.Glu393Asp) c.1188G>C (p.Glu396Asp) c.534G>C (p.Glu178Asp) c.978G>C (p.Glu326Asp) | |
| 9 | g.135765039G= | CA1883866281 | KCNT1 | c.1044G= (p.Glu348=) c.885G= (p.Glu295=) c.792G= (p.Glu264=) c.801G= (p.Glu267=) c.945G= (p.Glu315=) c.*654G= (n.*654G=) c.927G= (p.Glu309=) c.987G= (p.Glu329=) n.863G= c.909G= (p.Glu303=) c.1179G= (p.Glu393=) c.1188G= (p.Glu396=) c.534G= (p.Glu178=) c.978G= (p.Glu326=) | |
| 9 | g.135765039G>T | CA375499816 | KCNT1 | c.1044G>T (p.Glu348Asp) c.885G>T (p.Glu295Asp) c.792G>T (p.Glu264Asp) c.801G>T (p.Glu267Asp) c.945G>T (p.Glu315Asp) c.*654G>T (n.*654G>T) c.927G>T (p.Glu309Asp) c.987G>T (p.Glu329Asp) n.863G>T c.909G>T (p.Glu303Asp) c.1179G>T (p.Glu393Asp) c.1188G>T (p.Glu396Asp) c.534G>T (p.Glu178Asp) c.978G>T (p.Glu326Asp) | |
| 9 | g.135765040C>A | CA375499821 | KCNT1 | c.1045C>A (p.Leu349Ile) c.886C>A (p.Leu296Ile) c.793C>A (p.Leu265Ile) c.802C>A (p.Leu268Ile) c.946C>A (p.Leu316Ile) c.*655C>A (n.*655C>A) c.928C>A (p.Leu310Ile) c.988C>A (p.Leu330Ile) n.864C>A c.910C>A (p.Leu304Ile) c.1180C>A (p.Leu394Ile) c.1189C>A (p.Leu397Ile) c.535C>A (p.Leu179Ile) c.979C>A (p.Leu327Ile) | gnomAD v4 |
| 9 | g.135765040C>G | CA375499820 | KCNT1 | c.1045C>G (p.Leu349Val) c.886C>G (p.Leu296Val) c.793C>G (p.Leu265Val) c.802C>G (p.Leu268Val) c.946C>G (p.Leu316Val) c.*655C>G (n.*655C>G) c.928C>G (p.Leu310Val) c.988C>G (p.Leu330Val) n.864C>G c.910C>G (p.Leu304Val) c.1180C>G (p.Leu394Val) c.1189C>G (p.Leu397Val) c.535C>G (p.Leu179Val) c.979C>G (p.Leu327Val) | |
| 9 | g.135765040C>T | CA375499819 | KCNT1 | c.1045C>T (p.Leu349Phe) c.886C>T (p.Leu296Phe) c.793C>T (p.Leu265Phe) c.802C>T (p.Leu268Phe) c.946C>T (p.Leu316Phe) c.*655C>T (n.*655C>T) c.928C>T (p.Leu310Phe) c.988C>T (p.Leu330Phe) n.864C>T c.910C>T (p.Leu304Phe) c.1180C>T (p.Leu394Phe) c.1189C>T (p.Leu397Phe) c.535C>T (p.Leu179Phe) c.979C>T (p.Leu327Phe) | |
| 9 | g.135765041T>A | CA375499824 | KCNT1 | c.1046T>A (p.Leu349His) c.887T>A (p.Leu296His) c.794T>A (p.Leu265His) c.803T>A (p.Leu268His) c.947T>A (p.Leu316His) c.*656T>A (n.*656T>A) c.929T>A (p.Leu310His) c.989T>A (p.Leu330His) n.865T>A c.911T>A (p.Leu304His) c.1181T>A (p.Leu394His) c.1190T>A (p.Leu397His) c.536T>A (p.Leu179His) c.980T>A (p.Leu327His) | |
| 9 | g.135765041T>C | CA375499826 | KCNT1 | c.1046T>C (p.Leu349Pro) c.887T>C (p.Leu296Pro) c.794T>C (p.Leu265Pro) c.803T>C (p.Leu268Pro) c.947T>C (p.Leu316Pro) c.*656T>C (n.*656T>C) c.929T>C (p.Leu310Pro) c.989T>C (p.Leu330Pro) n.865T>C c.911T>C (p.Leu304Pro) c.1181T>C (p.Leu394Pro) c.1190T>C (p.Leu397Pro) c.536T>C (p.Leu179Pro) c.980T>C (p.Leu327Pro) | gnomAD v4 |
| 9 | g.135765041T>G | CA375499827 | KCNT1 | c.1046T>G (p.Leu349Arg) c.887T>G (p.Leu296Arg) c.794T>G (p.Leu265Arg) c.803T>G (p.Leu268Arg) c.947T>G (p.Leu316Arg) c.*656T>G (n.*656T>G) c.929T>G (p.Leu310Arg) c.989T>G (p.Leu330Arg) n.865T>G c.911T>G (p.Leu304Arg) c.1181T>G (p.Leu394Arg) c.1190T>G (p.Leu397Arg) c.536T>G (p.Leu179Arg) c.980T>G (p.Leu327Arg) | |
| 9 | g.135765042C>A | CA467697950 | KCNT1 | c.1047C>A (p.Leu349=) c.888C>A (p.Leu296=) c.795C>A (p.Leu265=) c.804C>A (p.Leu268=) c.948C>A (p.Leu316=) c.*657C>A (n.*657C>A) c.930C>A (p.Leu310=) c.990C>A (p.Leu330=) n.866C>A c.912C>A (p.Leu304=) c.1182C>A (p.Leu394=) c.1191C>A (p.Leu397=) c.537C>A (p.Leu179=) c.981C>A (p.Leu327=) | |
| 9 | g.135765042C= | CA1883866282 | KCNT1 | c.1047C= (p.Leu349=) c.888C= (p.Leu296=) c.795C= (p.Leu265=) c.804C= (p.Leu268=) c.948C= (p.Leu316=) c.*657C= (n.*657C=) c.930C= (p.Leu310=) c.990C= (p.Leu330=) n.866C= c.912C= (p.Leu304=) c.1182C= (p.Leu394=) c.1191C= (p.Leu397=) c.537C= (p.Leu179=) c.981C= (p.Leu327=) |