OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.58576541G>A | CA340524358 | TACSTD2 | c.616C>T (p.Arg206Trp) | |
| 1 | g.58576541G>C | CA340524357 | TACSTD2 | c.616C>G (p.Arg206Gly) | |
| 1 | g.58576541G>T | CA418183259 | TACSTD2 | c.616C>A (p.Arg206=) | gnomAD v4 |
| 1 | g.58576542C>A | CA418183262 | TACSTD2 | c.615G>T (p.Leu205=) | |
| 1 | g.58576542C= | CA1169462382 | TACSTD2 | c.615G= (p.Leu205=) | |
| 1 | g.58576542C>G | CA418183261 | TACSTD2 | c.615G>C (p.Leu205=) | |
| 1 | g.58576542C>T | CA22878284 | TACSTD2 | c.615G>A (p.Leu205=) | dbSNP gnomAD v4 |
| 1 | g.58576543A>C | CA340524360 | TACSTD2 | c.614T>G (p.Leu205Arg) | gnomAD v4 |
| 1 | g.58576543A>G | CA340524366 | TACSTD2 | c.614T>C (p.Leu205Pro) | gnomAD v4 |
| 1 | g.58576543A>T | CA340524369 | TACSTD2 | c.614T>A (p.Leu205Gln) | |
| 1 | g.58576544G>A | CA418183263 | TACSTD2 | c.613C>T (p.Leu205=) | |
| 1 | g.58576544G>C | CA340524370 | TACSTD2 | c.613C>G (p.Leu205Val) | |
| 1 | g.58576544G>T | CA340524371 | TACSTD2 | c.613C>A (p.Leu205Met) | gnomAD v4 |
| 1 | g.58576545C>A | CA340524374 | TACSTD2 | c.612G>T (p.Glu204Asp) | gnomAD v4 |
| 1 | g.58576545C>G | CA340524386 | TACSTD2 | c.612G>C (p.Glu204Asp) | |
| 1 | g.58576545C>T | CA418183266 | TACSTD2 | c.612G>A (p.Glu204=) | |
| 1 | g.58576546T>A | CA340524391 | TACSTD2 | c.611A>T (p.Glu204Val) | |
| 1 | g.58576546T>C | CA340524403 | TACSTD2 | c.611A>G (p.Glu204Gly) | |
| 1 | g.58576546T>G | CA340524399 | TACSTD2 | c.611A>C (p.Glu204Ala) | |
| 1 | g.58576547C>A | CA340524405 | TACSTD2 | c.610G>T (p.Glu204Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576547C= | CA1169462383 | TACSTD2 | c.610G= (p.Glu204=) | |
| 1 | g.58576547C>G | CA340524406 | TACSTD2 | c.610G>C (p.Glu204Gln) | |
| 1 | g.58576547C>T | CA340524407 | TACSTD2 | c.610G>A (p.Glu204Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576548G>A | CA418183270 | TACSTD2 | c.609C>T (p.Ile203=) | |
| 1 | g.58576548G>C | CA340524409 | TACSTD2 | c.609C>G (p.Ile203Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576548G= | CA1169462384 | TACSTD2 | c.609C= (p.Ile203=) | |
| 1 | g.58576548G>T | CA418183272 | TACSTD2 | c.609C>A (p.Ile203=) | |
| 1 | g.58576549A>C | CA340524416 | TACSTD2 | c.608T>G (p.Ile203Ser) | |
| 1 | g.58576549A>G | CA340524420 | TACSTD2 | c.608T>C (p.Ile203Thr) | |
| 1 | g.58576549A>T | CA340524421 | TACSTD2 | c.608T>A (p.Ile203Asn) | |
| 1 | g.58576550T>A | CA340524422 | TACSTD2 | c.607A>T (p.Ile203Phe) | |
| 1 | g.58576550T>C | CA877382 | TACSTD2 | c.607A>G (p.Ile203Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576550T>G | CA340524429 | TACSTD2 | c.607A>C (p.Ile203Leu) | |
| 1 | g.58576550T= | CA1169462385 | TACSTD2 | c.607A= (p.Ile203=) | |
| 1 | g.58576551C>A | CA340524433 | TACSTD2 | c.606G>T (p.Gln202His) | gnomAD v4 |
| 1 | g.58576551C= | CA1169462386 | TACSTD2 | c.606G= (p.Gln202=) | |
| 1 | g.58576551C>G | CA340524437 | TACSTD2 | c.606G>C (p.Gln202His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576551C>T | CA418183281 | TACSTD2 | c.606G>A (p.Gln202=) | |
| 1 | g.58576552T>A | CA340524445 | TACSTD2 | c.605A>T (p.Gln202Leu) | |
| 1 | g.58576552T>C | CA340524462 | TACSTD2 | c.605A>G (p.Gln202Arg) | |
| 1 | g.58576552T>G | CA340524449 | TACSTD2 | c.605A>C (p.Gln202Pro) | |
| 1 | g.58576553G>A | CA340524466 | TACSTD2 | c.604C>T (p.Gln202Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576553G>C | CA340524469 | TACSTD2 | c.604C>G (p.Gln202Glu) | |
| 1 | g.58576553G= | CA1169462387 | TACSTD2 | c.604C= (p.Gln202=) | |
| 1 | g.58576553G>T | CA340524478 | TACSTD2 | c.604C>A (p.Gln202Lys) | |
| 1 | g.58576554G>A | CA418183286 | TACSTD2 | c.603C>T (p.Ile201=) | |
| 1 | g.58576554G>C | CA340524479 | TACSTD2 | c.603C>G (p.Ile201Met) | |
| 1 | g.58576554G>T | CA418183289 | TACSTD2 | c.603C>A (p.Ile201=) | |
| 1 | g.58576555A>C | CA340524485 | TACSTD2 | c.602T>G (p.Ile201Ser) | |
| 1 | g.58576555A>G | CA340524489 | TACSTD2 | c.602T>C (p.Ile201Thr) | |
| 1 | g.58576555A>T | CA340524493 | TACSTD2 | c.602T>A (p.Ile201Asn) | |
| 1 | g.58576556T>A | CA340524498 | TACSTD2 | c.601A>T (p.Ile201Phe) | |
| 1 | g.58576556T>C | CA340524505 | TACSTD2 | c.601A>G (p.Ile201Val) | |
| 1 | g.58576556T>G | CA340524508 | TACSTD2 | c.601A>C (p.Ile201Leu) | |
| 1 | g.58576557G>A | CA418183294 | TACSTD2 | c.600C>T (p.Thr200=) | |
| 1 | g.58576557G>C | CA418183296 | TACSTD2 | c.600C>G (p.Thr200=) | |
| 1 | g.58576557G>T | CA418183299 | TACSTD2 | c.600C>A (p.Thr200=) | |
| 1 | g.58576558G>A | CA340524511 | TACSTD2 | c.599C>T (p.Thr200Ile) | |
| 1 | g.58576558G>C | CA340524513 | TACSTD2 | c.599C>G (p.Thr200Ser) | dbSNP gnomAD v4 |
| 1 | g.58576558G= | CA1169462388 | TACSTD2 | c.599C= (p.Thr200=) | |
| 1 | g.58576558G>T | CA340524514 | TACSTD2 | c.599C>A (p.Thr200Asn) | |
| 1 | g.58576559T>A | CA340524524 | TACSTD2 | c.598A>T (p.Thr200Ser) | |
| 1 | g.58576559T>C | CA340524516 | TACSTD2 | c.598A>G (p.Thr200Ala) | |
| 1 | g.58576559T>G | CA340524523 | TACSTD2 | c.598A>C (p.Thr200Pro) | |
| 1 | g.58576560G>A | CA418183303 | TACSTD2 | c.597C>T (p.Pro199=) | |
| 1 | g.58576560G>C | CA418183306 | TACSTD2 | c.597C>G (p.Pro199=) | |
| 1 | g.58576560G>T | CA418183305 | TACSTD2 | c.597C>A (p.Pro199=) | |
| 1 | g.58576561G>A | CA340524530 | TACSTD2 | c.596C>T (p.Pro199Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576561G>C | CA340524533 | TACSTD2 | c.596C>G (p.Pro199Arg) | gnomAD v4 |
| 1 | g.58576561G= | CA1169462389 | TACSTD2 | c.596C= (p.Pro199=) | |
| 1 | g.58576561G>T | CA340524538 | TACSTD2 | c.596C>A (p.Pro199His) | |
| 1 | g.58576562G>A | CA340524547 | TACSTD2 | c.595C>T (p.Pro199Ser) | gnomAD v4 |
| 1 | g.58576562G>C | CA340524555 | TACSTD2 | c.595C>G (p.Pro199Ala) | |
| 1 | g.58576562G>T | CA340524560 | TACSTD2 | c.595C>A (p.Pro199Thr) | |
| 1 | g.58576563C>A | CA340524562 | TACSTD2 | c.594G>T (p.Gln198His) | |
| 1 | g.58576563C>G | CA340524567 | TACSTD2 | c.594G>C (p.Gln198His) | |
| 1 | g.58576563C>T | CA418183308 | TACSTD2 | c.594G>A (p.Gln198=) | |
| 1 | g.58576564T>A | CA340524572 | TACSTD2 | c.593A>T (p.Gln198Leu) | |
| 1 | g.58576564T>C | CA340524582 | TACSTD2 | c.593A>G (p.Gln198Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576564T>G | CA340524586 | TACSTD2 | c.593A>C (p.Gln198Pro) | |
| 1 | g.58576564T= | CA1169462390 | TACSTD2 | c.593A= (p.Gln198=) | |
| 1 | g.58576565G>A | CA877383 | TACSTD2 | c.592C>T (p.Gln198Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576565G>C | CA340524601 | TACSTD2 | c.592C>G (p.Gln198Glu) | |
| 1 | g.58576565G= | CA1169462391 | TACSTD2 | c.592C= (p.Gln198=) | |
| 1 | g.58576565G>T | CA340524596 | TACSTD2 | c.592C>A (p.Gln198Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576566C>A | CA340524615 | TACSTD2 | c.591G>T (p.Glu197Asp) | |
| 1 | g.58576566C= | CA1169462392 | TACSTD2 | c.591G= (p.Glu197=) | |
| 1 | g.58576566C>G | CA340524617 | TACSTD2 | c.591G>C (p.Glu197Asp) | |
| 1 | g.58576566C>T | CA418183312 | TACSTD2 | c.591G>A (p.Glu197=) | dbSNP |
| 1 | g.58576567T>A | CA340524621 | TACSTD2 | c.590A>T (p.Glu197Val) | gnomAD v4 |
| 1 | g.58576567T>C | CA340524625 | TACSTD2 | c.590A>G (p.Glu197Gly) | gnomAD v4 |
| 1 | g.58576567T>G | CA340524628 | TACSTD2 | c.590A>C (p.Glu197Ala) | |
| 1 | g.58576568C>A | CA340524632 | TACSTD2 | c.589G>T (p.Glu197Ter) | dbSNP gnomAD v2 |
| 1 | g.58576568C= | CA1142028414 | TACSTD2 | c.589G= (p.Glu197=) | |
| 1 | g.58576568C>G | CA340524635 | TACSTD2 | c.589G>C (p.Glu197Gln) | |
| 1 | g.58576568C>T | CA877384 | TACSTD2 | c.589G>A (p.Glu197Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576569G>A | CA418183317 | TACSTD2 | c.588C>T (p.Tyr196=) | |
| 1 | g.58576569G>C | CA340524642 | TACSTD2 | c.588C>G (p.Tyr196Ter) | |
| 1 | g.58576569G>T | CA340524646 | TACSTD2 | c.588C>A (p.Tyr196Ter) | gnomAD v4 |
| 1 | g.58576570T>A | CA340524651 | TACSTD2 | c.587A>T (p.Tyr196Phe) | |
| 1 | g.58576570T>C | CA340524656 | TACSTD2 | c.587A>G (p.Tyr196Cys) | |
| 1 | g.58576570T>G | CA340524664 | TACSTD2 | c.587A>C (p.Tyr196Ser) | |
| 1 | g.58576571A>C | CA340524670 | TACSTD2 | c.586T>G (p.Tyr196Asp) | |
| 1 | g.58576571A>G | CA340524671 | TACSTD2 | c.586T>C (p.Tyr196His) | gnomAD v4 |
| 1 | g.58576571A>T | CA340524673 | TACSTD2 | c.586T>A (p.Tyr196Asn) | |
| 1 | g.58576572G>A | CA418183323 | TACSTD2 | c.585C>T (p.His195=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576572G>C | CA340524682 | TACSTD2 | c.585C>G (p.His195Gln) | |
| 1 | g.58576572G= | CA1169462393 | TACSTD2 | c.585C= (p.His195=) | |
| 1 | g.58576572G>T | CA340524677 | TACSTD2 | c.585C>A (p.His195Gln) | |
| 1 | g.58576573T>A | CA340524693 | TACSTD2 | c.584A>T (p.His195Leu) | gnomAD v4 |
| 1 | g.58576573T>C | CA340524697 | TACSTD2 | c.584A>G (p.His195Arg) | |
| 1 | g.58576573T>G | CA340524699 | TACSTD2 | c.584A>C (p.His195Pro) | |
| 1 | g.58576574G>A | CA877385 | TACSTD2 | c.583C>T (p.His195Tyr) | dbSNP ExAC gnomAD v2 |
| 1 | g.58576574G>C | CA340524702 | TACSTD2 | c.583C>G (p.His195Asp) | |
| 1 | g.58576574G= | CA1148457738 | TACSTD2 | c.583C= (p.His195=) | |
| 1 | g.58576574G>T | CA340524703 | TACSTD2 | c.583C>A (p.His195Asn) | |
| 1 | g.58576575C>A | CA418183331 | TACSTD2 | c.582G>T (p.Val194=) | |
| 1 | g.58576575C>G | CA418183329 | TACSTD2 | c.582G>C (p.Val194=) | |
| 1 | g.58576575C>T | CA418183330 | TACSTD2 | c.582G>A (p.Val194=) | |
| 1 | g.58576576A= | CA1145261832 | TACSTD2 | c.581T= (p.Val194=) | |
| 1 | g.58576576A>C | CA340524710 | TACSTD2 | c.581T>G (p.Val194Gly) | |
| 1 | g.58576576A>G | CA877386 | TACSTD2 | c.581T>C (p.Val194Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576576A>T | CA340524707 | TACSTD2 | c.581T>A (p.Val194Glu) | |
| 1 | g.58576577C>A | CA340524715 | TACSTD2 | c.580G>T (p.Val194Leu) | dbSNP |
| 1 | g.58576577C= | CA1143874895 | TACSTD2 | c.580G= (p.Val194=) | |
| 1 | g.58576577C>G | CA877387 | TACSTD2 | c.580G>C (p.Val194Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576577C>T | CA340524724 | TACSTD2 | c.580G>A (p.Val194Met) | |
| 1 | g.58576578G>A | CA877389 | TACSTD2 | c.579C>T (p.Ala193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576578G>C | CA418183336 | TACSTD2 | c.579C>G (p.Ala193=) | dbSNP |
| 1 | g.58576578G= | CA1149051697 | TACSTD2 | c.579C= (p.Ala193=) | |
| 1 | g.58576578G>T | CA877388 | TACSTD2 | c.579C>A (p.Ala193=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576579G>A | CA340524737 | TACSTD2 | c.578C>T (p.Ala193Val) | gnomAD v4 |
| 1 | g.58576579G>C | CA340524746 | TACSTD2 | c.578C>G (p.Ala193Gly) | |
| 1 | g.58576579G>T | CA340524745 | TACSTD2 | c.578C>A (p.Ala193Asp) | |
| 1 | g.58576580C>A | CA340524754 | TACSTD2 | c.577G>T (p.Ala193Ser) | |
| 1 | g.58576580C>G | CA340524756 | TACSTD2 | c.577G>C (p.Ala193Pro) | |
| 1 | g.58576580C>T | CA340524759 | TACSTD2 | c.577G>A (p.Ala193Thr) | |
| 1 | g.58576581C>A | CA418183344 | TACSTD2 | c.576G>T (p.Ala192=) | dbSNP gnomAD v4 |
| 1 | g.58576581C= | CA1169462394 | TACSTD2 | c.576G= (p.Ala192=) | |
| 1 | g.58576581C>G | CA418183342 | TACSTD2 | c.576G>C (p.Ala192=) | |
| 1 | g.58576581C>T | CA877390 | TACSTD2 | c.576G>A (p.Ala192=) | dbSNP ExAC gnomAD v2 |
| 1 | g.58576582_58576632del | CA2586966689 | TACSTD2 | c.526_576del (p.Leu176_Ala192del) | |
| 1 | g.58576582G>A | CA877391 | TACSTD2 | c.575C>T (p.Ala192Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576582G>C | CA340524760 | TACSTD2 | c.575C>G (p.Ala192Gly) | |
| 1 | g.58576582G= | CA1169462395 | TACSTD2 | c.575C= (p.Ala192=) | |
| 1 | g.58576582G>T | CA877392 | TACSTD2 | c.575C>A (p.Ala192Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576583C>A | CA340524765 | TACSTD2 | c.574G>T (p.Ala192Ser) | |
| 1 | g.58576583C>G | CA340524768 | TACSTD2 | c.574G>C (p.Ala192Pro) | |
| 1 | g.58576583C>T | CA340524771 | TACSTD2 | c.574G>A (p.Ala192Thr) | |
| 1 | g.58576584C>A | CA418183351 | TACSTD2 | c.573G>T (p.Val191=) | |
| 1 | g.58576584C>G | CA418183352 | TACSTD2 | c.573G>C (p.Val191=) | |
| 1 | g.58576584C>T | CA418183353 | TACSTD2 | c.573G>A (p.Val191=) | |
| 1 | g.58576585A>C | CA340524774 | TACSTD2 | c.572T>G (p.Val191Gly) | |
| 1 | g.58576585A>G | CA340524779 | TACSTD2 | c.572T>C (p.Val191Ala) | |
| 1 | g.58576585A>T | CA340524787 | TACSTD2 | c.572T>A (p.Val191Glu) | |
| 1 | g.58576586C>A | CA340524792 | TACSTD2 | c.571G>T (p.Val191Leu) | |
| 1 | g.58576586C>G | CA340524794 | TACSTD2 | c.571G>C (p.Val191Leu) | |
| 1 | g.58576586C>T | CA340524793 | TACSTD2 | c.571G>A (p.Val191Met) | gnomAD v4 |
| 1 | g.58576587G>A | CA418183359 | TACSTD2 | c.570C>T (p.Phe190=) | gnomAD v4 |
| 1 | g.58576587G>C | CA340524796 | TACSTD2 | c.570C>G (p.Phe190Leu) | |
| 1 | g.58576587G= | CA1142007598 | TACSTD2 | c.570C= (p.Phe190=) | |
| 1 | g.58576587G>T | CA877393 | TACSTD2 | c.570C>A (p.Phe190Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576588A>C | CA340524801 | TACSTD2 | c.569T>G (p.Phe190Cys) | |
| 1 | g.58576588A>G | CA340524804 | TACSTD2 | c.569T>C (p.Phe190Ser) | |
| 1 | g.58576588A>T | CA340524807 | TACSTD2 | c.569T>A (p.Phe190Tyr) | gnomAD v4 |
| 1 | g.58576589A>C | CA340524810 | TACSTD2 | c.568T>G (p.Phe190Val) | |
| 1 | g.58576589A>G | CA340524812 | TACSTD2 | c.568T>C (p.Phe190Leu) | |
| 1 | g.58576589A>T | CA340524815 | TACSTD2 | c.568T>A (p.Phe190Ile) | gnomAD v4 |
| 1 | g.58576590C>A | CA340524818 | TACSTD2 | c.567G>T (p.Lys189Asn) | |
| 1 | g.58576590C>G | CA340524819 | TACSTD2 | c.567G>C (p.Lys189Asn) | |
| 1 | g.58576590C>T | CA418183366 | TACSTD2 | c.567G>A (p.Lys189=) | gnomAD v4 |
| 1 | g.58576591T>A | CA340524823 | TACSTD2 | c.566A>T (p.Lys189Met) | |
| 1 | g.58576591T>C | CA877394 | TACSTD2 | c.566A>G (p.Lys189Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.58576591T>G | CA340524822 | TACSTD2 | c.566A>C (p.Lys189Thr) | gnomAD v4 |
| 1 | g.58576591T= | CA1169462396 | TACSTD2 | c.566A= (p.Lys189=) | |
| 1 | g.58576592T>A | CA340524825 | TACSTD2 | c.565A>T (p.Lys189Ter) | |
| 1 | g.58576592T>C | CA340524830 | TACSTD2 | c.565A>G (p.Lys189Glu) | |
| 1 | g.58576592T>G | CA340524827 | TACSTD2 | c.565A>C (p.Lys189Gln) | |
| 1 | g.58576592_58576593delinsTG | CA1169462397 | TACSTD2 | c.564_565delinsCA (p.Pro188=) | |
| 1 | g.58576593G>A | CA418183378 | TACSTD2 | c.564C>T (p.Pro188=) | |
| 1 | g.58576593G>C | CA877396 | TACSTD2 | c.564C>G (p.Pro188=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576593G= | CA1169462398 | TACSTD2 | c.564C= (p.Pro188=) | |
| 1 | g.58576593G>T | CA418183380 | TACSTD2 | c.564C>A (p.Pro188=) | |
| 1 | g.58576593_58576596delinsGGGG | CA1148729584 | TACSTD2 | c.561_564delinsCCCC (p.His187=) | |
| 1 | g.58576596del | CA877395 | TACSTD2 | c.564del (p.Lys189SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576594G>A | CA340524837 | TACSTD2 | c.563C>T (p.Pro188Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576594G>C | CA877397 | TACSTD2 | c.563C>G (p.Pro188Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576594G= | CA1169462399 | TACSTD2 | c.563C= (p.Pro188=) | |
| 1 | g.58576594G>T | CA340524842 | TACSTD2 | c.563C>A (p.Pro188His) | |
| 1 | g.58576595G>A | CA340524846 | TACSTD2 | c.562C>T (p.Pro188Ser) | |
| 1 | g.58576595G>C | CA340524849 | TACSTD2 | c.562C>G (p.Pro188Ala) | |
| 1 | g.58576595G>T | CA340524857 | TACSTD2 | c.562C>A (p.Pro188Thr) | |
| 1 | g.58576596G>A | CA418183390 | TACSTD2 | c.561C>T (p.His187=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576596G>C | CA340524862 | TACSTD2 | c.561C>G (p.His187Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576596G= | CA1169462400 | TACSTD2 | c.561C= (p.His187=) | |
| 1 | g.58576596G>T | CA340524864 | TACSTD2 | c.561C>A (p.His187Gln) | |
| 1 | g.58576597T>A | CA340524873 | TACSTD2 | c.560A>T (p.His187Leu) | |
| 1 | g.58576597T>C | CA340524871 | TACSTD2 | c.560A>G (p.His187Arg) | |
| 1 | g.58576597T>G | CA340524870 | TACSTD2 | c.560A>C (p.His187Pro) | |
| 1 | g.58576598G>A | CA340524878 | TACSTD2 | c.559C>T (p.His187Tyr) | gnomAD v4 |
| 1 | g.58576598G>C | CA340524881 | TACSTD2 | c.559C>G (p.His187Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576598G= | CA1169462401 | TACSTD2 | c.559C= (p.His187=) | |
| 1 | g.58576598G>T | CA340524882 | TACSTD2 | c.559C>A (p.His187Asn) | |
| 1 | g.58576599C>A | CA418183400 | TACSTD2 | c.558G>T (p.Leu186=) | |
| 1 | g.58576599C>G | CA418183401 | TACSTD2 | c.558G>C (p.Leu186=) | |
| 1 | g.58576599C>T | CA418183403 | TACSTD2 | c.558G>A (p.Leu186=) | |
| 1 | g.58576600A= | CA1141189045 | TACSTD2 | c.557T= (p.Leu186=) | |
| 1 | g.58576600A>C | CA340524885 | TACSTD2 | c.557T>G (p.Leu186Arg) | |
| 1 | g.58576600A>G | CA126254 | TACSTD2 | c.557T>C (p.Leu186Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.58576600A>T | CA340524890 | TACSTD2 | c.557T>A (p.Leu186Gln) | |
| 1 | g.58576601G>A | CA418183408 | TACSTD2 | c.556C>T (p.Leu186=) | |
| 1 | g.58576601G>C | CA340524894 | TACSTD2 | c.556C>G (p.Leu186Val) | gnomAD v4 |
| 1 | g.58576601G>T | CA340524899 | TACSTD2 | c.556C>A (p.Leu186Met) | gnomAD v4 |
| 1 | g.58576602C>A | CA418183409 | TACSTD2 | c.555G>T (p.Arg185=) | |
| 1 | g.58576602C= | CA1169462402 | TACSTD2 | c.555G= (p.Arg185=) | |
| 1 | g.58576602C>G | CA418183410 | TACSTD2 | c.555G>C (p.Arg185=) | |
| 1 | g.58576602C>T | CA418183411 | TACSTD2 | c.555G>A (p.Arg185=) | dbSNP gnomAD v2 |
| 1 | g.58576603C>A | CA340524901 | TACSTD2 | c.554G>T (p.Arg185Leu) | dbSNP |
| 1 | g.58576603C= | CA1169462403 | TACSTD2 | c.554G= (p.Arg185=) | |
| 1 | g.58576603C>G | CA340524905 | TACSTD2 | c.554G>C (p.Arg185Pro) | |
| 1 | g.58576603C>T | CA340524911 | TACSTD2 | c.554G>A (p.Arg185Gln) | dbSNP gnomAD v4 |
| 1 | g.58576604G>A | CA340524913 | TACSTD2 | c.553C>T (p.Arg185Trp) | dbSNP gnomAD v4 |
| 1 | g.58576604G>C | CA340524915 | TACSTD2 | c.553C>G (p.Arg185Gly) | COSMIC |
| 1 | g.58576604G= | CA1169462404 | TACSTD2 | c.553C= (p.Arg185=) | |
| 1 | g.58576604G>T | CA418183413 | TACSTD2 | c.553C>A (p.Arg185=) | gnomAD v4 |
| 1 | g.58576605A>C | CA340524918 | TACSTD2 | c.552T>G (p.Tyr184Ter) | |
| 1 | g.58576605A>G | CA418183418 | TACSTD2 | c.552T>C (p.Tyr184=) | gnomAD v4 |
| 1 | g.58576605A>T | CA340524922 | TACSTD2 | c.552T>A (p.Tyr184Ter) | |
| 1 | g.58576606T>A | CA340524927 | TACSTD2 | c.551A>T (p.Tyr184Phe) | |
| 1 | g.58576606T>C | CA877398 | TACSTD2 | c.551A>G (p.Tyr184Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576606T>G | CA340524935 | TACSTD2 | c.551A>C (p.Tyr184Ser) | |
| 1 | g.58576606T= | CA1143170309 | TACSTD2 | c.551A= (p.Tyr184=) | |
| 1 | g.58576607A>C | CA340524941 | TACSTD2 | c.550T>G (p.Tyr184Asp) | |
| 1 | g.58576607A>G | CA340524943 | TACSTD2 | c.550T>C (p.Tyr184His) | |
| 1 | g.58576607A>T | CA340524948 | TACSTD2 | c.550T>A (p.Tyr184Asn) | |
| 1 | g.58576608G>A | CA418183429 | TACSTD2 | c.549C>T (p.Arg183=) | dbSNP gnomAD v2 |
| 1 | g.58576608G>C | CA418183430 | TACSTD2 | c.549C>G (p.Arg183=) | |
| 1 | g.58576608G= | CA1169462405 | TACSTD2 | c.549C= (p.Arg183=) | |
| 1 | g.58576608G>T | CA418183433 | TACSTD2 | c.549C>A (p.Arg183=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576609C>A | CA877399 | TACSTD2 | c.548G>T (p.Arg183Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576609C= | CA1146657930 | TACSTD2 | c.548G= (p.Arg183=) | |
| 1 | g.58576609C>G | CA340524952 | TACSTD2 | c.548G>C (p.Arg183Pro) | ClinVar |
| 1 | g.58576609C>T | CA340524956 | TACSTD2 | c.548G>A (p.Arg183His) | gnomAD v4 |
| 1 | g.58576610G>A | CA340524968 | TACSTD2 | c.547C>T (p.Arg183Cys) | gnomAD v4 |
| 1 | g.58576610G>C | CA340524984 | TACSTD2 | c.547C>G (p.Arg183Gly) | |
| 1 | g.58576610G>T | CA340524987 | TACSTD2 | c.547C>A (p.Arg183Ser) | |
| 1 | g.58576611C>A | CA340524988 | TACSTD2 | c.546G>T (p.Glu182Asp) | |
| 1 | g.58576611C= | CA1169462406 | TACSTD2 | c.546G= (p.Glu182=) | |
| 1 | g.58576611C>G | CA340524989 | TACSTD2 | c.546G>C (p.Glu182Asp) | |
| 1 | g.58576611C>T | CA418183442 | TACSTD2 | c.546G>A (p.Glu182=) | dbSNP |
| 1 | g.58576612T>A | CA340524992 | TACSTD2 | c.545A>T (p.Glu182Val) | dbSNP |
| 1 | g.58576612T>C | CA340524997 | TACSTD2 | c.545A>G (p.Glu182Gly) | |
| 1 | g.58576612T>G | CA340524994 | TACSTD2 | c.545A>C (p.Glu182Ala) | |
| 1 | g.58576612T= | CA1169462407 | TACSTD2 | c.545A= (p.Glu182=) | |
| 1 | g.58576613C>A | CA340525001 | TACSTD2 | c.544G>T (p.Glu182Ter) | |
| 1 | g.58576613C>G | CA340525005 | TACSTD2 | c.544G>C (p.Glu182Gln) | |
| 1 | g.58576613C>T | CA340525009 | TACSTD2 | c.544G>A (p.Glu182Lys) | gnomAD v4 |
| 1 | g.58576614G>A | CA418183450 | TACSTD2 | c.543C>T (p.Arg181=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576614G>C | CA418183451 | TACSTD2 | c.543C>G (p.Arg181=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576614G= | CA1169462408 | TACSTD2 | c.543C= (p.Arg181=) | |
| 1 | g.58576614G>T | CA418183452 | TACSTD2 | c.543C>A (p.Arg181=) | |
| 1 | g.58576615C>A | CA340525012 | TACSTD2 | c.542G>T (p.Arg181Leu) | |
| 1 | g.58576615C= | CA1143497160 | TACSTD2 | c.542G= (p.Arg181=) | |
| 1 | g.58576615C>G | CA340525015 | TACSTD2 | c.542G>C (p.Arg181Pro) | |
| 1 | g.58576615C>T | CA877400 | TACSTD2 | c.542G>A (p.Arg181His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576616G>A | CA340525021 | TACSTD2 | c.541C>T (p.Arg181Cys) | |
| 1 | g.58576616G>C | CA340525022 | TACSTD2 | c.541C>G (p.Arg181Gly) | |
| 1 | g.58576616G= | CA1145561266 | TACSTD2 | c.541C= (p.Arg181=) | |
| 1 | g.58576616G>T | CA877401 | TACSTD2 | c.541C>A (p.Arg181Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576617G>A | CA877402 | TACSTD2 | c.540C>T (p.Phe180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576617G>C | CA340525040 | TACSTD2 | c.540C>G (p.Phe180Leu) | |
| 1 | g.58576617G= | CA1169462409 | TACSTD2 | c.540C= (p.Phe180=) | |
| 1 | g.58576617G>T | CA340525042 | TACSTD2 | c.540C>A (p.Phe180Leu) | gnomAD v4 |
| 1 | g.58576618A>C | CA340525047 | TACSTD2 | c.539T>G (p.Phe180Cys) | |
| 1 | g.58576618A>G | CA340525048 | TACSTD2 | c.539T>C (p.Phe180Ser) | gnomAD v4 |
| 1 | g.58576618A>T | CA340525046 | TACSTD2 | c.539T>A (p.Phe180Tyr) | |
| 1 | g.58576619A>C | CA340525050 | TACSTD2 | c.538T>G (p.Phe180Val) | |
| 1 | g.58576619A>G | CA340525057 | TACSTD2 | c.538T>C (p.Phe180Leu) | |
| 1 | g.58576619A>T | CA340525055 | TACSTD2 | c.538T>A (p.Phe180Ile) | gnomAD v4 |
| 1 | g.58576620G>A | CA877403 | TACSTD2 | c.537C>T (p.Leu179=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576620G>C | CA418183462 | TACSTD2 | c.537C>G (p.Leu179=) | dbSNP |
| 1 | g.58576620G= | CA1169462410 | TACSTD2 | c.537C= (p.Leu179=) | |
| 1 | g.58576620G>T | CA418183464 | TACSTD2 | c.537C>A (p.Leu179=) | |
| 1 | g.58576621A= | CA1169462411 | TACSTD2 | c.536T= (p.Leu179=) | |
| 1 | g.58576621A>C | CA340525069 | TACSTD2 | c.536T>G (p.Leu179Arg) | |
| 1 | g.58576621A>G | CA877404 | TACSTD2 | c.536T>C (p.Leu179Pro) | dbSNP ExAC gnomAD v2 |
| 1 | g.58576621A>T | CA340525072 | TACSTD2 | c.536T>A (p.Leu179His) | |
| 1 | g.58576622G>A | CA340525073 | TACSTD2 | c.535C>T (p.Leu179Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576622G>C | CA340525075 | TACSTD2 | c.535C>G (p.Leu179Val) | |
| 1 | g.58576622G= | CA1169462412 | TACSTD2 | c.535C= (p.Leu179=) | |
| 1 | g.58576622G>T | CA340525074 | TACSTD2 | c.535C>A (p.Leu179Ile) | |
| 1 | g.58576623C>A | CA418183471 | TACSTD2 | c.534G>T (p.Arg178=) | |
| 1 | g.58576623C= | CA1169462413 | TACSTD2 | c.534G= (p.Arg178=) | |
| 1 | g.58576623C>G | CA418183474 | TACSTD2 | c.534G>C (p.Arg178=) | |
| 1 | g.58576623C>T | CA418183473 | TACSTD2 | c.534G>A (p.Arg178=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576624C>A | CA340525078 | TACSTD2 | c.533G>T (p.Arg178Leu) | gnomAD v4 |
| 1 | g.58576624C= | CA1146816599 | TACSTD2 | c.533G= (p.Arg178=) | |
| 1 | g.58576624C>G | CA340525081 | TACSTD2 | c.533G>C (p.Arg178Pro) | |
| 1 | g.58576624C>T | CA877405 | TACSTD2 | c.533G>A (p.Arg178Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576625G>A | CA340525090 | TACSTD2 | c.532C>T (p.Arg178Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576625G>C | CA340525093 | TACSTD2 | c.532C>G (p.Arg178Gly) | |
| 1 | g.58576625G= | CA1169462414 | TACSTD2 | c.532C= (p.Arg178=) | |
| 1 | g.58576625G>T | CA418183478 | TACSTD2 | c.532C>A (p.Arg178=) | gnomAD v4 |
| 1 | g.58576626C>A | CA340525096 | TACSTD2 | c.531G>T (p.Arg177Ser) | |
| 1 | g.58576626C= | CA1169462415 | TACSTD2 | c.531G= (p.Arg177=) | |
| 1 | g.58576626C>G | CA340525100 | TACSTD2 | c.531G>C (p.Arg177Ser) | |
| 1 | g.58576626C>T | CA418183482 | TACSTD2 | c.531G>A (p.Arg177=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576627C>A | CA340525112 | TACSTD2 | c.530G>T (p.Arg177Met) | gnomAD v4 |
| 1 | g.58576627C= | CA1148292941 | TACSTD2 | c.530G= (p.Arg177=) | |
| 1 | g.58576627C>G | CA340525119 | TACSTD2 | c.530G>C (p.Arg177Thr) | |
| 1 | g.58576627C>T | CA877406 | TACSTD2 | c.530G>A (p.Arg177Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576628T>A | CA340525125 | TACSTD2 | c.529A>T (p.Arg177Trp) | |
| 1 | g.58576628T>C | CA340525127 | TACSTD2 | c.529A>G (p.Arg177Gly) | |
| 1 | g.58576628T>G | CA418183490 | TACSTD2 | c.529A>C (p.Arg177=) | |
| 1 | g.58576629C>A | CA418183491 | TACSTD2 | c.528G>T (p.Leu176=) | |
| 1 | g.58576629C>G | CA418183492 | TACSTD2 | c.528G>C (p.Leu176=) | |
| 1 | g.58576629C>T | CA418183493 | TACSTD2 | c.528G>A (p.Leu176=) | |
| 1 | g.58576630A>C | CA340525134 | TACSTD2 | c.527T>G (p.Leu176Arg) | |
| 1 | g.58576630A>G | CA340525141 | TACSTD2 | c.527T>C (p.Leu176Pro) | |
| 1 | g.58576630A>T | CA340525137 | TACSTD2 | c.527T>A (p.Leu176Gln) | |
| 1 | g.58576631G>A | CA418183496 | TACSTD2 | c.526C>T (p.Leu176=) | |
| 1 | g.58576631G>C | CA877407 | TACSTD2 | c.526C>G (p.Leu176Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576631G= | CA1169462416 | TACSTD2 | c.526C= (p.Leu176=) | |
| 1 | g.58576631G>T | CA340525146 | TACSTD2 | c.526C>A (p.Leu176Met) | |
| 1 | g.58576632C>A | CA340525150 | TACSTD2 | c.525G>T (p.Glu175Asp) | gnomAD v4 |
| 1 | g.58576632C= | CA1169462417 | TACSTD2 | c.525G= (p.Glu175=) | |
| 1 | g.58576632C>G | CA340525151 | TACSTD2 | c.525G>C (p.Glu175Asp) | |
| 1 | g.58576632C>T | CA418183502 | TACSTD2 | c.525G>A (p.Glu175=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576633T>A | CA340525152 | TACSTD2 | c.524A>T (p.Glu175Val) | |
| 1 | g.58576633T>C | CA340525155 | TACSTD2 | c.524A>G (p.Glu175Gly) | |
| 1 | g.58576633T>G | CA340525158 | TACSTD2 | c.524A>C (p.Glu175Ala) | |
| 1 | g.58576634C>A | CA340525172 | TACSTD2 | c.523G>T (p.Glu175Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.58576634C= | CA1142043314 | TACSTD2 | c.523G= (p.Glu175=) | |
| 1 | g.58576634C>G | CA340525180 | TACSTD2 | c.523G>C (p.Glu175Gln) | dbSNP |
| 1 | g.58576634C>T | CA877408 | TACSTD2 | c.523G>A (p.Glu175Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576634_58576642delinsCGGCGTCCA | CA1169462418 | TACSTD2 | c.515_523delinsTGGACGCCG (p.Leu172=) | |
| 1 | g.58576635G>A | CA418183506 | TACSTD2 | c.522C>T (p.Ala174=) | |
| 1 | g.58576635G>C | CA877409 | TACSTD2 | c.522C>G (p.Ala174=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.58576635G= | CA1148475596 | TACSTD2 | c.522C= (p.Ala174=) | |
| 1 | g.58576635G>T | CA418183504 | TACSTD2 | c.522C>A (p.Ala174=) | gnomAD v4 |
| 1 | g.58576636dup | CA2586966690 | TACSTD2 | c.522dup (p.Glu175ArgfsTer?) | |
| 1 | g.58576637_58576644del | CA1002160443 | TACSTD2 | c.515_522del (p.Leu172ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576636G>A | CA340525187 | TACSTD2 | c.521C>T (p.Ala174Val) | |
| 1 | g.58576636G>C | CA340525183 | TACSTD2 | c.521C>G (p.Ala174Gly) | |
| 1 | g.58576636G>T | CA340525184 | TACSTD2 | c.521C>A (p.Ala174Asp) | |
| 1 | g.58576637C>A | CA340525188 | TACSTD2 | c.520G>T (p.Ala174Ser) | gnomAD v4 |
| 1 | g.58576637C= | CA1169462419 | TACSTD2 | c.520G= (p.Ala174=) | |
| 1 | g.58576637C>G | CA340525189 | TACSTD2 | c.520G>C (p.Ala174Pro) | |
| 1 | g.58576637C>T | CA340525190 | TACSTD2 | c.520G>A (p.Ala174Thr) | |
| 1 | g.58576638G>A | CA418183513 | TACSTD2 | c.519C>T (p.Asp173=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576638G>C | CA340525192 | TACSTD2 | c.519C>G (p.Asp173Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.58576638G= | CA1169462420 | TACSTD2 | c.519C= (p.Asp173=) | |
| 1 | g.58576638G>T | CA340525194 | TACSTD2 | c.519C>A (p.Asp173Glu) | gnomAD v4 |
| 1 | g.58576638dup | CA523276572 | TACSTD2 | c.519dup (p.Ala174ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576639T>A | CA22878394 | TACSTD2 | c.518A>T (p.Asp173Val) | dbSNP |
| 1 | g.58576639T>C | CA340525200 | TACSTD2 | c.518A>G (p.Asp173Gly) | |
| 1 | g.58576639T>G | CA877410 | TACSTD2 | c.518A>C (p.Asp173Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.58576639T= | CA1140553268 | TACSTD2 | c.518A= (p.Asp173=) | |
| 1 | g.58576640C>A | CA340525208 | TACSTD2 | c.517G>T (p.Asp173Tyr) | |
| 1 | g.58576640C>G | CA340525218 | TACSTD2 | c.517G>C (p.Asp173His) | |
| 1 | g.58576640C>T | CA340525221 | TACSTD2 | c.517G>A (p.Asp173Asn) | |
| 1 | g.58576641C>A | CA418182745 | TACSTD2 | c.516G>T (p.Leu172=) | |
| 1 | g.58576641C= | CA1169462421 | TACSTD2 | c.516G= (p.Leu172=) | |
| 1 | g.58576641C>G | CA418182747 | TACSTD2 | c.516G>C (p.Leu172=) | |
| 1 | g.58576641C>T | CA877411 | TACSTD2 | c.516G>A (p.Leu172=) | dbSNP ExAC gnomAD v2 |