| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24127696C>A | CA351888895 | THRB | c.947G>T (p.Arg316Leu) c.*1576G>T (n.*1576G>T) c.992G>T (p.Arg331Leu) c.854G>T (p.Arg285Leu) | |
| 3 | g.24127696C= | CA1351825357 | THRB | c.947G= (p.Arg316=) c.*1576G= (n.*1576G=) c.992G= (p.Arg331=) c.854G= (p.Arg285=) | |
| 3 | g.24127696C>G | CA351888896 | THRB | c.947G>C (p.Arg316Pro) c.*1576G>C (n.*1576G>C) c.992G>C (p.Arg331Pro) c.854G>C (p.Arg285Pro) | |
| 3 | g.24127696C>T | CA122491 | THRB | c.947G>A (p.Arg316His) c.*1576G>A (n.*1576G>A) c.992G>A (p.Arg331His) c.854G>A (p.Arg285His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127697G>A | CA351888897 | THRB | c.946C>T (p.Arg316Cys) c.*1575C>T (n.*1575C>T) c.991C>T (p.Arg331Cys) c.853C>T (p.Arg285Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127697G>C | CA351888898 | THRB | c.946C>G (p.Arg316Gly) c.*1575C>G (n.*1575C>G) c.991C>G (p.Arg331Gly) c.853C>G (p.Arg285Gly) | |
| 3 | g.24127697G= | CA1351825359 | THRB | c.946C= (p.Arg316=) c.*1575C= (n.*1575C=) c.991C= (p.Arg331=) c.853C= (p.Arg285=) | |
| 3 | g.24127697G>T | CA351888899 | THRB | c.946C>A (p.Arg316Ser) c.*1575C>A (n.*1575C>A) c.991C>A (p.Arg331Ser) c.853C>A (p.Arg285Ser) | |
| 3 | g.24127698A>C | CA432916289 | THRB | c.945T>G (p.Leu315=) c.*1574T>G (n.*1574T>G) c.990T>G (p.Leu330=) c.852T>G (p.Leu284=) | |
| 3 | g.24127698A>G | CA432916290 | THRB | c.945T>C (p.Leu315=) c.*1574T>C (n.*1574T>C) c.990T>C (p.Leu330=) c.852T>C (p.Leu284=) | |
| 3 | g.24127698A>T | CA432916292 | THRB | c.945T>A (p.Leu315=) c.*1574T>A (n.*1574T>A) c.990T>A (p.Leu330=) c.852T>A (p.Leu284=) | |
| 3 | g.24127699A>C | CA351888900 | THRB | c.944T>G (p.Leu315Arg) c.*1573T>G (n.*1573T>G) c.989T>G (p.Leu330Arg) c.851T>G (p.Leu284Arg) | |
| 3 | g.24127699A>G | CA351888901 | THRB | c.944T>C (p.Leu315Pro) c.*1573T>C (n.*1573T>C) c.989T>C (p.Leu330Pro) c.851T>C (p.Leu284Pro) | |
| 3 | g.24127699A>T | CA351888902 | THRB | c.944T>A (p.Leu315His) c.*1573T>A (n.*1573T>A) c.989T>A (p.Leu330His) c.851T>A (p.Leu284His) | |
| 3 | g.24127700G>A | CA351888904 | THRB | c.943C>T (p.Leu315Phe) c.*1572C>T (n.*1572C>T) c.988C>T (p.Leu330Phe) c.850C>T (p.Leu284Phe) | |
| 3 | g.24127700G>C | CA351888905 | THRB | c.943C>G (p.Leu315Val) c.*1572C>G (n.*1572C>G) c.988C>G (p.Leu330Val) c.850C>G (p.Leu284Val) | |
| 3 | g.24127700G>T | CA351888903 | THRB | c.943C>A (p.Leu315Ile) c.*1572C>A (n.*1572C>A) c.988C>A (p.Leu330Ile) c.850C>A (p.Leu284Ile) | |
| 3 | g.24127702del | CA2577530547 | THRB | c.943del (p.Leu315PhefsTer14) c.*1572del (n.*1572del) c.988del (p.Leu330PhefsTer14) c.850del (p.Leu284PhefsTer14) c.943del (p.Leu315PhefsTer21) | |
| 3 | g.24127701G>A | CA432916298 | THRB | c.942C>T (p.Ser314=) c.*1571C>T (n.*1571C>T) c.987C>T (p.Ser329=) c.849C>T (p.Ser283=) | |
| 3 | g.24127701G>C | CA432916299 | THRB | c.942C>G (p.Ser314=) c.*1571C>G (n.*1571C>G) c.987C>G (p.Ser329=) c.849C>G (p.Ser283=) | |
| 3 | g.24127701G>T | CA432916300 | THRB | c.942C>A (p.Ser314=) c.*1571C>A (n.*1571C>A) c.987C>A (p.Ser329=) c.849C>A (p.Ser283=) | |
| 3 | g.24127702G>A | CA351888908 | THRB | c.941C>T (p.Ser314Phe) c.*1570C>T (n.*1570C>T) c.986C>T (p.Ser329Phe) c.848C>T (p.Ser283Phe) | ClinVar dbSNP |
| 3 | g.24127702G>C | CA351888906 | THRB | c.941C>G (p.Ser314Cys) c.*1570C>G (n.*1570C>G) c.986C>G (p.Ser329Cys) c.848C>G (p.Ser283Cys) | |
| 3 | g.24127702G= | CA1351825360 | THRB | c.941C= (p.Ser314=) c.*1570C= (n.*1570C=) c.986C= (p.Ser329=) c.848C= (p.Ser283=) | |
| 3 | g.24127702G>T | CA351888907 | THRB | c.941C>A (p.Ser314Tyr) c.*1570C>A (n.*1570C>A) c.986C>A (p.Ser329Tyr) c.848C>A (p.Ser283Tyr) | |
| 3 | g.24127703A>C | CA351888909 | THRB | c.940T>G (p.Ser314Ala) c.*1569T>G (n.*1569T>G) c.985T>G (p.Ser329Ala) c.847T>G (p.Ser283Ala) | |
| 3 | g.24127703A>G | CA351888910 | THRB | c.940T>C (p.Ser314Pro) c.*1569T>C (n.*1569T>C) c.985T>C (p.Ser329Pro) c.847T>C (p.Ser283Pro) | COSMIC |
| 3 | g.24127703A>T | CA351888911 | THRB | c.940T>A (p.Ser314Thr) c.*1569T>A (n.*1569T>A) c.985T>A (p.Ser329Thr) c.847T>A (p.Ser283Thr) | |
| 3 | g.24127704C>A | CA351888912 | THRB | c.939G>T (p.Met313Ile) c.*1568G>T (n.*1568G>T) c.984G>T (p.Met328Ile) c.846G>T (p.Met282Ile) | |
| 3 | g.24127704C>G | CA351888913 | THRB | c.939G>C (p.Met313Ile) c.*1568G>C (n.*1568G>C) c.984G>C (p.Met328Ile) c.846G>C (p.Met282Ile) | |
| 3 | g.24127704C>T | CA351888914 | THRB | c.939G>A (p.Met313Ile) c.*1568G>A (n.*1568G>A) c.984G>A (p.Met328Ile) c.846G>A (p.Met282Ile) | |
| 3 | g.24127705A= | CA1351825361 | THRB | c.938T= (p.Met313=) c.*1567T= (n.*1567T=) c.983T= (p.Met328=) c.845T= (p.Met282=) | |
| 3 | g.24127705A>C | CA351888915 | THRB | c.938T>G (p.Met313Arg) c.*1567T>G (n.*1567T>G) c.983T>G (p.Met328Arg) c.845T>G (p.Met282Arg) | |
| 3 | g.24127705A>G | CA351888916 | THRB | c.938T>C (p.Met313Thr) c.*1567T>C (n.*1567T>C) c.983T>C (p.Met328Thr) c.845T>C (p.Met282Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.24127705A>T | CA351888917 | THRB | c.938T>A (p.Met313Lys) c.*1567T>A (n.*1567T>A) c.983T>A (p.Met328Lys) c.845T>A (p.Met282Lys) | |
| 3 | g.24127706T>A | CA351888920 | THRB | c.937A>T (p.Met313Leu) c.*1566A>T (n.*1566A>T) c.982A>T (p.Met328Leu) c.844A>T (p.Met282Leu) | |
| 3 | g.24127706T>C | CA351888919 | THRB | c.937A>G (p.Met313Val) c.*1566A>G (n.*1566A>G) c.982A>G (p.Met328Val) c.844A>G (p.Met282Val) | ClinVar dbSNP |
| 3 | g.24127706T>G | CA351888918 | THRB | c.937A>C (p.Met313Leu) c.*1566A>C (n.*1566A>C) c.982A>C (p.Met328Leu) c.844A>C (p.Met282Leu) | |
| 3 | g.24127706T= | CA1351825362 | THRB | c.937A= (p.Met313=) c.*1566A= (n.*1566A=) c.982A= (p.Met328=) c.844A= (p.Met282=) | |
| 3 | g.24127707G>A | CA432916305 | THRB | c.936C>T (p.Ile312=) c.*1565C>T (n.*1565C>T) c.981C>T (p.Ile327=) c.843C>T (p.Ile281=) | |
| 3 | g.24127707G>C | CA351888921 | THRB | c.936C>G (p.Ile312Met) c.*1565C>G (n.*1565C>G) c.981C>G (p.Ile327Met) c.843C>G (p.Ile281Met) | gnomAD v4 |
| 3 | g.24127707G>T | CA432916306 | THRB | c.936C>A (p.Ile312=) c.*1565C>A (n.*1565C>A) c.981C>A (p.Ile327=) c.843C>A (p.Ile281=) | |
| 3 | g.24127708A>C | CA351888922 | THRB | c.935T>G (p.Ile312Ser) c.*1564T>G (n.*1564T>G) c.980T>G (p.Ile327Ser) c.842T>G (p.Ile281Ser) | |
| 3 | g.24127708A>G | CA351888923 | THRB | c.935T>C (p.Ile312Thr) c.*1564T>C (n.*1564T>C) c.980T>C (p.Ile327Thr) c.842T>C (p.Ile281Thr) | |
| 3 | g.24127708A>T | CA351888924 | THRB | c.935T>A (p.Ile312Asn) c.*1564T>A (n.*1564T>A) c.980T>A (p.Ile327Asn) c.842T>A (p.Ile281Asn) | |
| 3 | g.24127709T>A | CA351888925 | THRB | c.934A>T (p.Ile312Phe) c.*1563A>T (n.*1563A>T) c.979A>T (p.Ile327Phe) c.841A>T (p.Ile281Phe) | |
| 3 | g.24127709T>C | CA351888926 | THRB | c.934A>G (p.Ile312Val) c.*1563A>G (n.*1563A>G) c.979A>G (p.Ile327Val) c.841A>G (p.Ile281Val) | |
| 3 | g.24127709T>G | CA351888927 | THRB | c.934A>C (p.Ile312Leu) c.*1563A>C (n.*1563A>C) c.979A>C (p.Ile327Leu) c.841A>C (p.Ile281Leu) | |
| 3 | g.24127710C>A | CA351888928 | THRB | c.933G>T (p.Glu311Asp) c.*1562G>T (n.*1562G>T) c.978G>T (p.Glu326Asp) c.840G>T (p.Glu280Asp) | |
| 3 | g.24127710C>G | CA351888929 | THRB | c.933G>C (p.Glu311Asp) c.*1562G>C (n.*1562G>C) c.978G>C (p.Glu326Asp) c.840G>C (p.Glu280Asp) |