| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115033346_115033359dup | CA2647270336 | TSHB | c.-1-16_-1-3dup (n.-1-16_-1-3dup) c.-17_-4dup (n.-17_-4dup) | gnomAD v4 |
| 1 | g.115033356A>G | CA2647270338 | TSHB | c.-1-6A>G (n.-1-6A>G) c.-7A>G (n.-7A>G) | gnomAD v4 |
| 1 | g.115033357T>A | CA2696606667 | TSHB | c.-1-5T>A (n.-1-5T>A) c.-6T>A (n.-6T>A) | dbSNP |
| 1 | g.115033358T>G | CA1022512 | TSHB | c.-1-4T>G (n.-1-4T>G) c.-5T>G (n.-5T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115033358T= | CA1190425178 | TSHB | c.-1-4T= (n.-1-4T=) c.-5T= (n.-5T=) | |
| 1 | g.115033360A= | CA1190425179 | TSHB | c.-1-2A= (n.-1-2A=) c.-3A= (n.-3A=) | |
| 1 | g.115033360A>T | CA1190425180 | TSHB | c.-1-2A>T (n.-1-2A>T) c.-3A>T (n.-3A>T) | dbSNP |
| 1 | g.115033361G>A | CA1190425182 | TSHB | c.-1-1G>A (n.-1-1G>A) c.-2G>A (n.-2G>A) | dbSNP gnomAD v4 |
| 1 | g.115033361G= | CA1190425181 | TSHB | c.-1-1G= (n.-1-1G=) c.-2G= (n.-2G=) | |
| 1 | g.115033362C>T | CA2647270340 | TSHB | c.-1C>T (n.-1C>T) | gnomAD v4 |
| 1 | g.115033362_115033367del | CA2647270339 | TSHB | c.-1_5del | gnomAD v4 |
| 1 | g.115033363A>C | CA341754448 | TSHB | c.1A>C (p.Met1Leu) | |
| 1 | g.115033363A>G | CA341754449 | TSHB | c.1A>G (p.Met1Val) | gnomAD v4 |
| 1 | g.115033363A>T | CA341754453 | TSHB | c.1A>T (p.Met1Leu) | |
| 1 | g.115033364T>A | CA341754457 | TSHB | c.2T>A (p.Met1Lys) | |
| 1 | g.115033364T>C | CA341754464 | TSHB | c.2T>C (p.Met1Thr) | gnomAD v4 |
| 1 | g.115033364T>G | CA341754459 | TSHB | c.2T>G (p.Met1Arg) | |
| 1 | g.115033365G>A | CA341754468 | TSHB | c.3G>A (p.Met1Ile) | |
| 1 | g.115033365G>C | CA341754474 | TSHB | c.3G>C (p.Met1Ile) | |
| 1 | g.115033365G>T | CA341754471 | TSHB | c.3G>T (p.Met1Ile) | |
| 1 | g.115033366A>C | CA341754480 | TSHB | c.4A>C (p.Thr2Pro) | |
| 1 | g.115033366A>G | CA341754483 | TSHB | c.4A>G (p.Thr2Ala) | |
| 1 | g.115033366A>T | CA341754485 | TSHB | c.4A>T (p.Thr2Ser) | |
| 1 | g.115033367C>A | CA341754489 | TSHB | c.5C>A (p.Thr2Asn) | |
| 1 | g.115033367C= | CA1190425183 | TSHB | c.5C= (p.Thr2=) | |
| 1 | g.115033367C>G | CA341754493 | TSHB | c.5C>G (p.Thr2Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115033367C>T | CA341754495 | TSHB | c.5C>T (p.Thr2Ile) | |
| 1 | g.115033368T>A | CA419891266 | TSHB | c.6T>A (p.Thr2=) | |
| 1 | g.115033368T>C | CA419891268 | TSHB | c.6T>C (p.Thr2=) | |
| 1 | g.115033368T>G | CA419891267 | TSHB | c.6T>G (p.Thr2=) | gnomAD v4 |
| 1 | g.115033369G>A | CA341754498 | TSHB | c.7G>A (p.Ala3Thr) | |
| 1 | g.115033369G>C | CA341754500 | TSHB | c.7G>C (p.Ala3Pro) | |
| 1 | g.115033369G>T | CA341754502 | TSHB | c.7G>T (p.Ala3Ser) | |
| 1 | g.115033370C>A | CA341754505 | TSHB | c.8C>A (p.Ala3Asp) | |
| 1 | g.115033370C= | CA1143871176 | TSHB | c.8C= (p.Ala3=) | |
| 1 | g.115033370C>G | CA341754507 | TSHB | c.8C>G (p.Ala3Gly) | |
| 1 | g.115033370C>T | CA1022513 | TSHB | c.8C>T (p.Ala3Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115033371T>A | CA419891269 | TSHB | c.9T>A (p.Ala3=) | |
| 1 | g.115033371T>C | CA419891270 | TSHB | c.9T>C (p.Ala3=) | |
| 1 | g.115033371T>G | CA419891271 | TSHB | c.9T>G (p.Ala3=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115033371T= | CA1190425184 | TSHB | c.9T= (p.Ala3=) | |
| 1 | g.115033372C>A | CA341754519 | TSHB | c.10C>A (p.Leu4Ile) | |
| 1 | g.115033372C= | CA1190425185 | TSHB | c.10C= (p.Leu4=) | |
| 1 | g.115033372C>G | CA341754514 | TSHB | c.10C>G (p.Leu4Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115033372C>T | CA1022514 | TSHB | c.10C>T (p.Leu4Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115033373T>A | CA341754524 | TSHB | c.11T>A (p.Leu4His) | |
| 1 | g.115033373T>C | CA341754528 | TSHB | c.11T>C (p.Leu4Pro) | |
| 1 | g.115033373T>G | CA341754531 | TSHB | c.11T>G (p.Leu4Arg) | |
| 1 | g.115033374C>A | CA419891272 | TSHB | c.12C>A (p.Leu4=) | |
| 1 | g.115033374C>G | CA419891273 | TSHB | c.12C>G (p.Leu4=) |