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 |
|---|---|---|---|---|---|
| 1 | g.115033312G>A | CA2647270329 | TSHB | c.-1-50G>A (n.-1-50G>A) c.-51G>A (n.-51G>A) | gnomAD v4 |
| 1 | g.115033315C= | CA1141216706 | TSHB | c.-1-47C= (n.-1-47C=) c.-48C= (n.-48C=) | |
| 1 | g.115033315C>T | CA1022507 | TSHB | c.-1-47C>T (n.-1-47C>T) c.-48C>T (n.-48C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115033317T>C | CA2574036556 | TSHB | c.-1-45T>C (n.-1-45T>C) c.-46T>C (n.-46T>C) | gnomAD v4 |
| 1 | g.115033318T>G | CA525631184 | TSHB | c.-1-44T>G (n.-1-44T>G) c.-45T>G (n.-45T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115033318T= | CA1190425170 | TSHB | c.-1-44T= (n.-1-44T=) c.-45T= (n.-45T=) | |
| 1 | g.115033320T>C | CA2574036557 | TSHB | c.-1-42T>C (n.-1-42T>C) c.-43T>C (n.-43T>C) | gnomAD v4 |
| 1 | g.115033321G>A | CA2647270330 | TSHB | c.-1-41G>A (n.-1-41G>A) c.-42G>A (n.-42G>A) | gnomAD v4 |
| 1 | g.115033321G= | CA1190425171 | TSHB | c.-1-41G= (n.-1-41G=) c.-42G= (n.-42G=) | |
| 1 | g.115033321G>T | CA525631185 | TSHB | c.-1-41G>T (n.-1-41G>T) c.-42G>T (n.-42G>T) | dbSNP gnomAD v2 |
| 1 | g.115033327A>G | CA2647270331 | TSHB | c.-1-35A>G (n.-1-35A>G) c.-36A>G (n.-36A>G) | gnomAD v4 |
| 1 | g.115033328A>G | CA2647270332 | TSHB | c.-1-34A>G (n.-1-34A>G) c.-35A>G (n.-35A>G) | gnomAD v4 |
| 1 | g.115033332A= | CA1190425172 | TSHB | c.-1-30A= (n.-1-30A=) c.-31A= (n.-31A=) | |
| 1 | g.115033332A>G | CA1022508 | TSHB | c.-1-30A>G (n.-1-30A>G) c.-31A>G (n.-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115033334A= | CA1146940654 | TSHB | c.-1-28A= (n.-1-28A=) c.-29A= (n.-29A=) | |
| 1 | g.115033334A>G | CA1022509 | TSHB | c.-1-28A>G (n.-1-28A>G) c.-29A>G (n.-29A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.115033335G>A | CA1022510 | TSHB | c.-1-27G>A (n.-1-27G>A) c.-28G>A (n.-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115033335G>C | CA885864996 | TSHB | c.-1-27G>C (n.-1-27G>C) c.-28G>C (n.-28G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115033335G= | CA1190425173 | TSHB | c.-1-27G= (n.-1-27G=) c.-28G= (n.-28G=) | |
| 1 | g.115033336_115033340delinsGTTCT | CA1190425174 | TSHB | c.-1-26_-1-22delinsGTTCT (n.-1-26_-1-22delinsGTTCT) c.-27_-23delinsGTTCT (n.-27_-23delinsGTTCT) | |
| 1 | g.115033337T>C | CA2745142336 | TSHB | c.-1-25T>C (n.-1-25T>C) c.-26T>C (n.-26T>C) | |
| 1 | g.115033339_115033342del | CA1006029892 | TSHB | c.-1-23_-1-20del (n.-1-23_-1-20del) c.-24_-21del (n.-24_-21del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115033338T>A | CA525631186 | TSHB | c.-1-24T>A (n.-1-24T>A) c.-25T>A (n.-25T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115033338T= | CA1190425175 | TSHB | c.-1-24T= (n.-1-24T=) c.-25T= (n.-25T=) | |
| 1 | g.115033340T>C | CA2647270334 | TSHB | c.-1-22T>C (n.-1-22T>C) c.-23T>C (n.-23T>C) | gnomAD v4 |
| 1 | g.115033344_115033349del | CA2647270333 | TSHB | c.-1-18_-1-13del (n.-1-18_-1-13del) c.-19_-14del (n.-19_-14del) | gnomAD v4 |
| 1 | g.115033342T>C | CA1022511 | TSHB | c.-1-20T>C (n.-1-20T>C) c.-21T>C (n.-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115033342T= | CA1144691214 | TSHB | c.-1-20T= (n.-1-20T=) c.-21T= (n.-21T=) | |
| 1 | g.115033343A= | CA1190425176 | TSHB | c.-1-19A= (n.-1-19A=) c.-20A= (n.-20A=) | |
| 1 | g.115033343A>C | CA1190425177 | TSHB | c.-1-19A>C (n.-1-19A>C) c.-20A>C (n.-20A>C) | dbSNP gnomAD v4 |
| 1 | g.115033344A>G | CA2647270335 | TSHB | c.-1-18A>G (n.-1-18A>G) c.-19A>G (n.-19A>G) | gnomAD v4 |
| 1 | g.115033345T>G | CA2566239771 | TSHB | c.-1-17T>G (n.-1-17T>G) c.-18T>G (n.-18T>G) | |
| 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.115033349A>G | CA2574036558 | TSHB | c.-1-13A>G (n.-1-13A>G) c.-14A>G (n.-14A>G) | gnomAD v4 |
| 1 | g.115033350T>G | CA2647270337 | TSHB | c.-1-12T>G (n.-1-12T>G) c.-13T>G (n.-13T>G) | gnomAD v4 |
| 1 | g.115033354del | CA2696606536 | TSHB | c.-1-8del (n.-1-8del) c.-9del (n.-9del) | dbSNP |
| 1 | g.115033355G>A | CA2745142337 | TSHB | c.-1-7G>A (n.-1-7G>A) c.-8G>A (n.-8G>A) | |
| 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=) | |
| 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) | |
| 1 | g.115033379T>C | CA341754567 | TSHB | c.17T>C (p.Leu6Pro) | |
| 1 | g.115033379T>G | CA341754569 | TSHB | c.17T>G (p.Leu6Arg) | |
| 1 | g.115033380G>A | CA419891278 | TSHB | c.18G>A (p.Leu6=) | |
| 1 | g.115033380G>C | CA419891279 | TSHB | c.18G>C (p.Leu6=) | |
| 1 | g.115033380G>T | CA419891280 | TSHB | c.18G>T (p.Leu6=) | |
| 1 | g.115033381A>C | CA341754572 | TSHB | c.19A>C (p.Met7Leu) | |
| 1 | g.115033381A>G | CA341754573 | TSHB | c.19A>G (p.Met7Val) | |
| 1 | g.115033381A>T | CA341754576 | TSHB | c.19A>T (p.Met7Leu) | |
| 1 | g.115033382del | CA2647270342 | TSHB | c.20del (p.Met7SerfsTer?) | gnomAD v4 |
| 1 | g.115033382T>A | CA341754578 | TSHB | c.20T>A (p.Met7Lys) | |
| 1 | g.115033382T>C | CA341754579 | TSHB | c.20T>C (p.Met7Thr) | dbSNP |
| 1 | g.115033382T>G | CA341754580 | TSHB | c.20T>G (p.Met7Arg) | |
| 1 | g.115033382T= | CA1190425187 | TSHB | c.20T= (p.Met7=) | |
| 1 | g.115033383G>A | CA341754581 | TSHB | c.21G>A (p.Met7Ile) | dbSNP |
| 1 | g.115033383G>C | CA341754582 | TSHB | c.21G>C (p.Met7Ile) | |
| 1 | g.115033383G= | CA1190425188 | TSHB | c.21G= (p.Met7=) | |
| 1 | g.115033383G>T | CA341754583 | TSHB | c.21G>T (p.Met7Ile) | |
| 1 | g.115033384T>A | CA341754590 | TSHB | c.22T>A (p.Ser8Thr) | |
| 1 | g.115033384T>C | CA341754586 | TSHB | c.22T>C (p.Ser8Pro) | |
| 1 | g.115033384T>G | CA341754588 | TSHB | c.22T>G (p.Ser8Ala) | |
| 1 | g.115033384_115033386del | CA2647270343 | TSHB | c.22_24del (p.Ser8del) | gnomAD v4 |
| 1 | g.115033385C>A | CA341754592 | TSHB | c.23C>A (p.Ser8Tyr) | |
| 1 | g.115033385C>G | CA341754593 | TSHB | c.23C>G (p.Ser8Cys) | |
| 1 | g.115033385C>T | CA341754594 | TSHB | c.23C>T (p.Ser8Phe) | COSMIC |
| 1 | g.115033386C>A | CA419891281 | TSHB | c.24C>A (p.Ser8=) | |
| 1 | g.115033386C= | CA1190425189 | TSHB | c.24C= (p.Ser8=) | |
| 1 | g.115033386C>G | CA419891282 | TSHB | c.24C>G (p.Ser8=) | |
| 1 | g.115033386C>T | CA419891283 | TSHB | c.24C>T (p.Ser8=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115033387A>C | CA341754597 | TSHB | c.25A>C (p.Met9Leu) | |
| 1 | g.115033387A>G | CA341754598 | TSHB | c.25A>G (p.Met9Val) | dbSNP |
| 1 | g.115033387A>T | CA341754599 | TSHB | c.25A>T (p.Met9Leu) | |
| 1 | g.115033388del | CA2647270344 | TSHB | c.26del (p.Met9SerfsTer?) | gnomAD v4 |
| 1 | g.115033388T>A | CA341754601 | TSHB | c.26T>A (p.Met9Lys) | gnomAD v4 |
| 1 | g.115033388T>C | CA341754603 | TSHB | c.26T>C (p.Met9Thr) | gnomAD v4 |
| 1 | g.115033388T>G | CA341754604 | TSHB | c.26T>G (p.Met9Arg) | |
| 1 | g.115033389G>A | CA341754606 | TSHB | c.27G>A (p.Met9Ile) | gnomAD v4 |
| 1 | g.115033389G>C | CA341754607 | TSHB | c.27G>C (p.Met9Ile) | |
| 1 | g.115033389G>T | CA341754608 | TSHB | c.27G>T (p.Met9Ile) | |
| 1 | g.115033390del | CA2697554468 | TSHB | c.28del (p.Leu10PhefsTer?) | ClinVar |
| 1 | g.115033390C>A | CA341754611 | TSHB | c.28C>A (p.Leu10Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115033390C= | CA1141756700 | TSHB | c.28C= (p.Leu10=) | |
| 1 | g.115033390C>G | CA341754613 | TSHB | c.28C>G (p.Leu10Val) | |
| 1 | g.115033390C>T | CA1022515 | TSHB | c.28C>T (p.Leu10Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115033391T>A | CA341754620 | TSHB | c.29T>A (p.Leu10His) | |
| 1 | g.115033391T>C | CA341754615 | TSHB | c.29T>C (p.Leu10Pro) | |
| 1 | g.115033391T>G | CA341754617 | TSHB | c.29T>G (p.Leu10Arg) | |
| 1 | g.115033395del | CA2647270345 | TSHB | c.33del (p.Phe11LeufsTer30) | gnomAD v4 |
| 1 | g.115033392T>A | CA419891284 | TSHB | c.30T>A (p.Leu10=) | |
| 1 | g.115033392T>C | CA419891285 | TSHB | c.30T>C (p.Leu10=) | |
| 1 | g.115033392T>G | CA419891286 | TSHB | c.30T>G (p.Leu10=) | |
| 1 | g.115033393T>A | CA341754623 | TSHB | c.31T>A (p.Phe11Ile) | |
| 1 | g.115033393T>C | CA341754625 | TSHB | c.31T>C (p.Phe11Leu) | |
| 1 | g.115033393T>G | CA341754627 | TSHB | c.31T>G (p.Phe11Val) | |
| 1 | g.115033394T>A | CA341754630 | TSHB | c.32T>A (p.Phe11Tyr) | |
| 1 | g.115033394T>C | CA341754633 | TSHB | c.32T>C (p.Phe11Ser) | |
| 1 | g.115033394T>G | CA341754634 | TSHB | c.32T>G (p.Phe11Cys) | |
| 1 | g.115033395T>A | CA341754636 | TSHB | c.33T>A (p.Phe11Leu) | |
| 1 | g.115033395T>C | CA419891287 | TSHB | c.33T>C (p.Phe11=) | |
| 1 | g.115033395T>G | CA1022516 | TSHB | c.33T>G (p.Phe11Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115033395T= | CA1190425190 | TSHB | c.33T= (p.Phe11=) | |
| 1 | g.115033396G>A | CA341754640 | TSHB | c.34G>A (p.Gly12Ser) | gnomAD v4 |
| 1 | g.115033396G>C | CA341754641 | TSHB | c.34G>C (p.Gly12Arg) | |
| 1 | g.115033396G>T | CA341754642 | TSHB | c.34G>T (p.Gly12Cys) | |
| 1 | g.115033397del | CA2647270346 | TSHB | c.35del (p.Gly12AlafsTer29) | gnomAD v4 |
| 1 | g.115033397G>A | CA341754643 | TSHB | c.35G>A (p.Gly12Asp) | COSMIC |
| 1 | g.115033397G>C | CA341754644 | TSHB | c.35G>C (p.Gly12Ala) | |
| 1 | g.115033397G>T | CA341754646 | TSHB | c.35G>T (p.Gly12Val) | |
| 1 | g.115033398C>A | CA419891290 | TSHB | c.36C>A (p.Gly12=) | |
| 1 | g.115033398C>G | CA419891288 | TSHB | c.36C>G (p.Gly12=) | |
| 1 | g.115033398C>T | CA419891289 | TSHB | c.36C>T (p.Gly12=) | |
| 1 | g.115033399C>A | CA341754648 | TSHB | c.37C>A (p.Leu13Ile) | |
| 1 | g.115033399C= | CA1190425191 | TSHB | c.37C= (p.Leu13=) | |
| 1 | g.115033399C>G | CA341754652 | TSHB | c.37C>G (p.Leu13Val) | |
| 1 | g.115033399C>T | CA341754650 | TSHB | c.37C>T (p.Leu13Phe) | dbSNP gnomAD v4 |
| 1 | g.115033400T>A | CA341754654 | TSHB | c.38T>A (p.Leu13His) | |
| 1 | g.115033400T>C | CA341754656 | TSHB | c.38T>C (p.Leu13Pro) | |
| 1 | g.115033400T>G | CA341754657 | TSHB | c.38T>G (p.Leu13Arg) | gnomAD v4 |
| 1 | g.115033400_115033405del | CA2647270347 | TSHB | c.38_43del (p.Leu13_Cys15delinsArg) | gnomAD v4 |
| 1 | g.115033401T>A | CA419891291 | TSHB | c.39T>A (p.Leu13=) | |
| 1 | g.115033401T>C | CA419891292 | TSHB | c.39T>C (p.Leu13=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115033401T>G | CA419891293 | TSHB | c.39T>G (p.Leu13=) | |
| 1 | g.115033401T= | CA1190425192 | TSHB | c.39T= (p.Leu13=) | |
| 1 | g.115033402A= | CA1140198987 | TSHB | c.40A= (p.Thr14=) | |
| 1 | g.115033402A>C | CA29083430 | TSHB | c.40A>C (p.Thr14Pro) | dbSNP gnomAD v4 |
| 1 | g.115033402A>G | CA1022517 | TSHB | c.40A>G (p.Thr14Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115033402A>T | CA341754661 | TSHB | c.40A>T (p.Thr14Ser) | gnomAD v4 |
| 1 | g.115033403C>A | CA341754663 | TSHB | c.41C>A (p.Thr14Lys) | |
| 1 | g.115033403C>G | CA341754665 | TSHB | c.41C>G (p.Thr14Arg) | |
| 1 | g.115033403C>T | CA341754666 | TSHB | c.41C>T (p.Thr14Ile) | ClinVar gnomAD v4 |
| 1 | g.115033404A>C | CA419891294 | TSHB | c.42A>C (p.Thr14=) | |
| 1 | g.115033404A>G | CA419891296 | TSHB | c.42A>G (p.Thr14=) | |
| 1 | g.115033404A>T | CA419891295 | TSHB | c.42A>T (p.Thr14=) | gnomAD v4 |
| 1 | g.115033405T>A | CA341754667 | TSHB | c.43T>A (p.Cys15Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115033405T>C | CA29083433 | TSHB | c.43T>C (p.Cys15Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115033405T>G | CA341754671 | TSHB | c.43T>G (p.Cys15Gly) | |
| 1 | g.115033405T= | CA1190425193 | TSHB | c.43T= (p.Cys15=) | |
| 1 | g.115033406G>A | CA341754674 | TSHB | c.44G>A (p.Cys15Tyr) | |
| 1 | g.115033406G>C | CA341754677 | TSHB | c.44G>C (p.Cys15Ser) | dbSNP |
| 1 | g.115033406G= | CA1190425194 | TSHB | c.44G= (p.Cys15=) | |
| 1 | g.115033406G>T | CA341754675 | TSHB | c.44G>T (p.Cys15Phe) | |
| 1 | g.115033407T>A | CA341754679 | TSHB | c.45T>A (p.Cys15Ter) | gnomAD v4 |
| 1 | g.115033407T>C | CA1022518 | TSHB | c.45T>C (p.Cys15=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.115033407T>G | CA341754682 | TSHB | c.45T>G (p.Cys15Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115033407T= | CA1190425195 | TSHB | c.45T= (p.Cys15=) | |
| 1 | g.115033408G>A | CA341754684 | TSHB | c.46G>A (p.Gly16Arg) | gnomAD v4 |
| 1 | g.115033408G>C | CA341754690 | TSHB | c.46G>C (p.Gly16Arg) | dbSNP gnomAD v4 |
| 1 | g.115033408G= | CA1190425196 | TSHB | c.46G= (p.Gly16=) | |
| 1 | g.115033408G>T | CA341754692 | TSHB | c.46G>T (p.Gly16Trp) | |
| 1 | g.115033409G>A | CA29083450 | TSHB | c.47G>A (p.Gly16Glu) | dbSNP gnomAD v4 |
| 1 | g.115033409G>C | CA341754695 | TSHB | c.47G>C (p.Gly16Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115033409G= | CA1190425197 | TSHB | c.47G= (p.Gly16=) | |
| 1 | g.115033409G>T | CA341754697 | TSHB | c.47G>T (p.Gly16Val) | |
| 1 | g.115033410G>A | CA419891299 | TSHB | c.48G>A (p.Gly16=) | |
| 1 | g.115033410G>C | CA419891298 | TSHB | c.48G>C (p.Gly16=) | |
| 1 | g.115033410G>T | CA419891297 | TSHB | c.48G>T (p.Gly16=) | dbSNP |
| 1 | g.115033411C>A | CA341754699 | TSHB | c.49C>A (p.Gln17Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115033411C= | CA1190425198 | TSHB | c.49C= (p.Gln17=) | |
| 1 | g.115033411C>G | CA341754701 | TSHB | c.49C>G (p.Gln17Glu) | |
| 1 | g.115033411C>T | CA341754704 | TSHB | c.49C>T (p.Gln17Ter) | |
| 1 | g.115033412A>C | CA341754710 | TSHB | c.50A>C (p.Gln17Pro) | |
| 1 | g.115033412A>G | CA341754708 | TSHB | c.50A>G (p.Gln17Arg) | gnomAD v4 |
| 1 | g.115033412A>T | CA341754706 | TSHB | c.50A>T (p.Gln17Leu) |