Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.115033362_115033367del | CA2647270339 | TSHB | c.-1_5del | gnomAD v4 |
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=) | |
1 | g.115033374C>T | CA419891274 | TSHB | c.12C>T (p.Leu4=) | ClinVar |
1 | g.115033375T>A | CA341754537 | TSHB | c.13T>A (p.Phe5Ile) | |
1 | g.115033375T>C | CA341754539 | TSHB | c.13T>C (p.Phe5Leu) | dbSNP gnomAD v4 |
1 | g.115033375T>G | CA341754543 | TSHB | c.13T>G (p.Phe5Val) | |
1 | g.115033375T= | CA1190425186 | TSHB | c.13T= (p.Phe5=) | |
1 | g.115033376T>A | CA341754545 | TSHB | c.14T>A (p.Phe5Tyr) | |
1 | g.115033376T>C | CA341754547 | TSHB | c.14T>C (p.Phe5Ser) | gnomAD v4 |
1 | g.115033376T>G | CA341754549 | TSHB | c.14T>G (p.Phe5Cys) | |
1 | g.115033377T>A | CA341754553 | TSHB | c.15T>A (p.Phe5Leu) | |
1 | g.115033377T>C | CA419891276 | TSHB | c.15T>C (p.Phe5=) | |
1 | g.115033377T>G | CA341754554 | TSHB | c.15T>G (p.Phe5Leu) | |
1 | g.115033379_115033385del | CA2647270341 | TSHB | c.17_23del (p.Leu6ProfsTer?) | gnomAD v4 |
1 | g.115033378C>A | CA341754556 | TSHB | c.16C>A (p.Leu6Met) | gnomAD v4 |
1 | g.115033378C>G | CA341754561 | TSHB | c.16C>G (p.Leu6Val) | |
1 | g.115033378C>T | CA419891277 | TSHB | c.16C>T (p.Leu6=) | |
1 | g.115033379T>A | CA341754565 | TSHB | c.17T>A (p.Leu6Gln) |