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 |
|---|---|---|---|---|---|
| 8 | g.60741506G>A | CA371295398 | CHD7 | n.587G>A c.74G>A (p.Gly25Glu) | COSMIC |
| 8 | g.60741506G>C | CA371295400 | CHD7 | n.587G>C c.74G>C (p.Gly25Ala) | |
| 8 | g.60741506G>T | CA371295403 | CHD7 | n.587G>T c.74G>T (p.Gly25Val) | |
| 8 | g.60741507A>C | CA460837605 | CHD7 | n.588A>C c.75A>C (p.Gly25=) | |
| 8 | g.60741507A>G | CA460837606 | CHD7 | n.588A>G c.75A>G (p.Gly25=) | |
| 8 | g.60741507A>T | CA460837603 | CHD7 | n.588A>T c.75A>T (p.Gly25=) | |
| 8 | g.60741508G>A | CA371295409 | CHD7 | n.589G>A c.76G>A (p.Glu26Lys) | |
| 8 | g.60741508G>C | CA371295414 | CHD7 | n.589G>C c.76G>C (p.Glu26Gln) | |
| 8 | g.60741508G>T | CA371295415 | CHD7 | n.589G>T c.76G>T (p.Glu26Ter) | COSMIC |
| 8 | g.60741509A>C | CA371295421 | CHD7 | n.590A>C c.77A>C (p.Glu26Ala) | |
| 8 | g.60741509A>G | CA371295418 | CHD7 | n.590A>G c.77A>G (p.Glu26Gly) | |
| 8 | g.60741509A>T | CA371295420 | CHD7 | n.590A>T c.77A>T (p.Glu26Val) | |
| 8 | g.60741509_60741510del | CA2695209535 | CHD7 | n.590_591del c.77_78del (p.Glu26ValfsTer?) | |
| 8 | g.60741510A>C | CA371295423 | CHD7 | n.591A>C c.78A>C (p.Glu26Asp) | |
| 8 | g.60741510A>G | CA460837614 | CHD7 | n.591A>G c.78A>G (p.Glu26=) | |
| 8 | g.60741510A>T | CA371295425 | CHD7 | n.591A>T c.78A>T (p.Glu26Asp) | |
| 8 | g.60741511T>A | CA371295429 | CHD7 | n.592T>A c.79T>A (p.Cys27Ser) | |
| 8 | g.60741511T>C | CA371295433 | CHD7 | n.592T>C c.79T>C (p.Cys27Arg) | gnomAD v4 |
| 8 | g.60741511T>G | CA371295436 | CHD7 | n.592T>G c.79T>G (p.Cys27Gly) | |
| 8 | g.60741512G>A | CA371295441 | CHD7 | n.593G>A c.80G>A (p.Cys27Tyr) | gnomAD v4 |
| 8 | g.60741512G>C | CA371295443 | CHD7 | n.593G>C c.80G>C (p.Cys27Ser) | |
| 8 | g.60741512G>T | CA371295446 | CHD7 | n.593G>T c.80G>T (p.Cys27Phe) | |
| 8 | g.60741513T>A | CA371295450 | CHD7 | n.594T>A c.81T>A (p.Cys27Ter) | |
| 8 | g.60741513T>C | CA460837624 | CHD7 | n.594T>C c.81T>C (p.Cys27=) | ClinVar |
| 8 | g.60741513T>G | CA371295454 | CHD7 | n.594T>G c.81T>G (p.Cys27Trp) | |
| 8 | g.60741514G>A | CA371295474 | CHD7 | n.595G>A c.82G>A (p.Gly28Ser) | |
| 8 | g.60741514G>C | CA371295480 | CHD7 | n.595G>C c.82G>C (p.Gly28Arg) | dbSNP gnomAD v4 |
| 8 | g.60741514G= | CA1788094407 | CHD7 | n.595G= c.82G= (p.Gly28=) | |
| 8 | g.60741514G>T | CA371295470 | CHD7 | n.595G>T c.82G>T (p.Gly28Cys) | |
| 8 | g.60741515G>A | CA371295482 | CHD7 | n.596G>A c.83G>A (p.Gly28Asp) | ClinVar dbSNP |
| 8 | g.60741515G>C | CA371295485 | CHD7 | n.596G>C c.83G>C (p.Gly28Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741515G= | CA1788094411 | CHD7 | n.596G= c.83G= (p.Gly28=) | |
| 8 | g.60741515G>T | CA371295487 | CHD7 | n.596G>T c.83G>T (p.Gly28Val) | |
| 8 | g.60741516T>A | CA460837631 | CHD7 | n.597T>A c.84T>A (p.Gly28=) | gnomAD v4 |
| 8 | g.60741516T>C | CA460837632 | CHD7 | n.597T>C c.84T>C (p.Gly28=) | COSMIC |
| 8 | g.60741516T>G | CA460837634 | CHD7 | n.597T>G c.84T>G (p.Gly28=) | |
| 8 | g.60741517T>A | CA371295491 | CHD7 | n.598T>A c.85T>A (p.Tyr29Asn) | |
| 8 | g.60741517T>C | CA371295492 | CHD7 | n.598T>C c.85T>C (p.Tyr29His) | |
| 8 | g.60741517T>G | CA371295493 | CHD7 | n.598T>G c.85T>G (p.Tyr29Asp) | |
| 8 | g.60741518A>C | CA371295497 | CHD7 | n.599A>C c.86A>C (p.Tyr29Ser) | |
| 8 | g.60741518A>G | CA371295494 | CHD7 | n.599A>G c.86A>G (p.Tyr29Cys) | |
| 8 | g.60741518A>T | CA371295495 | CHD7 | n.599A>T c.86A>T (p.Tyr29Phe) | |
| 8 | g.60741519C>A | CA371295499 | CHD7 | n.600C>A c.87C>A (p.Tyr29Ter) | |
| 8 | g.60741519C>G | CA371295500 | CHD7 | n.600C>G c.87C>G (p.Tyr29Ter) | |
| 8 | g.60741519C>T | CA460837643 | CHD7 | n.600C>T c.87C>T (p.Tyr29=) | |
| 8 | g.60741520C>A | CA371295502 | CHD7 | n.601C>A c.88C>A (p.Pro30Thr) | gnomAD v4 |
| 8 | g.60741520C>G | CA371295504 | CHD7 | n.601C>G c.88C>G (p.Pro30Ala) | |
| 8 | g.60741520C>T | CA371295506 | CHD7 | n.601C>T c.88C>T (p.Pro30Ser) | gnomAD v4 |
| 8 | g.60741521C>A | CA371295508 | CHD7 | n.602C>A c.89C>A (p.Pro30Gln) | |
| 8 | g.60741521C= | CA1788094418 | CHD7 | n.602C= c.89C= (p.Pro30=) | |
| 8 | g.60741521C>G | CA371295519 | CHD7 | n.602C>G c.89C>G (p.Pro30Arg) | gnomAD v4 |
| 8 | g.60741521C>T | CA4759261 | CHD7 | n.602C>T c.89C>T (p.Pro30Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60741522G>A | CA241699 | CHD7 | n.603G>A c.90G>A (p.Pro30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741522G>C | CA460837653 | CHD7 | n.603G>C c.90G>C (p.Pro30=) | |
| 8 | g.60741522G= | CA1788094428 | CHD7 | n.603G= c.90G= (p.Pro30=) | |
| 8 | g.60741522G>T | CA460837655 | CHD7 | n.603G>T c.90G>T (p.Pro30=) | |
| 8 | g.60741523G>A | CA371295521 | CHD7 | n.604G>A c.91G>A (p.Glu31Lys) | |
| 8 | g.60741523G>C | CA371295522 | CHD7 | n.604G>C c.91G>C (p.Glu31Gln) | gnomAD v4 |
| 8 | g.60741523G>T | CA371295523 | CHD7 | n.604G>T c.91G>T (p.Glu31Ter) | ClinVar |
| 8 | g.60741524A>C | CA371295525 | CHD7 | n.605A>C c.92A>C (p.Glu31Ala) | |
| 8 | g.60741524A>G | CA371295529 | CHD7 | n.605A>G c.92A>G (p.Glu31Gly) | |
| 8 | g.60741524A>T | CA371295533 | CHD7 | n.605A>T c.92A>T (p.Glu31Val) | |
| 8 | g.60741525A= | CA1788094433 | CHD7 | n.606A= c.93A= (p.Glu31=) | |
| 8 | g.60741525A>C | CA371295536 | CHD7 | n.606A>C c.93A>C (p.Glu31Asp) | |
| 8 | g.60741525A>G | CA460837664 | CHD7 | n.606A>G c.93A>G (p.Glu31=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741525A>T | CA371295540 | CHD7 | n.606A>T c.93A>T (p.Glu31Asp) | |
| 8 | g.60741526A>C | CA371295544 | CHD7 | n.607A>C c.94A>C (p.Asn32His) | |
| 8 | g.60741526A>G | CA371295547 | CHD7 | n.607A>G c.94A>G (p.Asn32Asp) | gnomAD v4 |
| 8 | g.60741526A>T | CA371295549 | CHD7 | n.607A>T c.94A>T (p.Asn32Tyr) | |
| 8 | g.60741527A= | CA1788094436 | CHD7 | n.608A= c.95A= (p.Asn32=) | |
| 8 | g.60741527A>C | CA371295558 | CHD7 | n.608A>C c.95A>C (p.Asn32Thr) | |
| 8 | g.60741527A>G | CA4759262 | CHD7 | n.608A>G c.95A>G (p.Asn32Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60741527A>T | CA371295554 | CHD7 | n.608A>T c.95A>T (p.Asn32Ile) | |
| 8 | g.60741528T>A | CA371295561 | CHD7 | n.609T>A c.96T>A (p.Asn32Lys) | |
| 8 | g.60741528T>C | CA460837674 | CHD7 | n.609T>C c.96T>C (p.Asn32=) | |
| 8 | g.60741528T>G | CA371295563 | CHD7 | n.609T>G c.96T>G (p.Asn32Lys) | |
| 8 | g.60741529C>A | CA371295564 | CHD7 | n.610C>A c.97C>A (p.Pro33Thr) c.97C>A | |
| 8 | g.60741529C>G | CA371295565 | CHD7 | n.610C>G c.97C>G (p.Pro33Ala) c.97C>G | |
| 8 | g.60741529C>T | CA371295566 | CHD7 | n.610C>T c.97C>T (p.Pro33Ser) c.97C>T | |
| 8 | g.60741530C>A | CA371295573 | CHD7 | n.611C>A c.98C>A (p.Pro33Gln) c.98C>A | |
| 8 | g.60741530C= | CA1788094439 | CHD7 | n.611C= c.98C= (p.Pro33=) c.98C= | |
| 8 | g.60741530C>G | CA4759263 | CHD7 | n.611C>G c.98C>G (p.Pro33Arg) c.98C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741530C>T | CA371295568 | CHD7 | n.611C>T c.98C>T (p.Pro33Leu) c.98C>T | |
| 8 | g.60741531A= | CA1788094444 | CHD7 | n.612A= c.99A= (p.Pro33=) | |
| 8 | g.60741531A>C | CA460837682 | CHD7 | n.612A>C c.99A>C (p.Pro33=) | |
| 8 | g.60741531A>G | CA460837684 | CHD7 | n.612A>G c.99A>G (p.Pro33=) | |
| 8 | g.60741531A>T | CA460837685 | CHD7 | n.612A>T c.99A>T (p.Pro33=) | dbSNP |
| 8 | g.60741532G>A | CA177312394 | CHD7 | n.613G>A c.100G>A (p.Val34Ile) | dbSNP gnomAD v4 |
| 8 | g.60741532G>C | CA371295576 | CHD7 | n.613G>C c.100G>C (p.Val34Leu) | |
| 8 | g.60741532G= | CA1788094448 | CHD7 | n.613G= c.100G= (p.Val34=) | |
| 8 | g.60741532G>T | CA371295578 | CHD7 | n.613G>T c.100G>T (p.Val34Leu) | gnomAD v4 |
| 8 | g.60741533T>A | CA371295582 | CHD7 | n.614T>A c.101T>A (p.Val34Glu) | |
| 8 | g.60741533T>C | CA371295585 | CHD7 | n.614T>C c.101T>C (p.Val34Ala) | gnomAD v4 |
| 8 | g.60741533T>G | CA371295587 | CHD7 | n.614T>G c.101T>G (p.Val34Gly) | |
| 8 | g.60741534A= | CA1788094456 | CHD7 | n.615A= c.102A= (p.Val34=) | |
| 8 | g.60741534A>C | CA460837695 | CHD7 | n.615A>C c.102A>C (p.Val34=) | |
| 8 | g.60741534A>G | CA460837697 | CHD7 | n.615A>G c.102A>G (p.Val34=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741534A>T | CA460837699 | CHD7 | n.615A>T c.102A>T (p.Val34=) | |
| 8 | g.60741535A>C | CA371295592 | CHD7 | n.616A>C c.103A>C (p.Asn35His) | |
| 8 | g.60741535A>G | CA371295589 | CHD7 | n.616A>G c.103A>G (p.Asn35Asp) | |
| 8 | g.60741535A>T | CA371295590 | CHD7 | n.616A>T c.103A>T (p.Asn35Tyr) | |
| 8 | g.60741536A>C | CA371295594 | CHD7 | n.617A>C c.104A>C (p.Asn35Thr) | |
| 8 | g.60741536A>G | CA371295597 | CHD7 | n.617A>G c.104A>G (p.Asn35Ser) | |
| 8 | g.60741536A>T | CA371295609 | CHD7 | n.617A>T c.104A>T (p.Asn35Ile) | |
| 8 | g.60741537T>A | CA371295613 | CHD7 | n.618T>A c.105T>A (p.Asn35Lys) | dbSNP gnomAD v4 |
| 8 | g.60741537T>C | CA460837708 | CHD7 | n.618T>C c.105T>C (p.Asn35=) | |
| 8 | g.60741537T>G | CA371295616 | CHD7 | n.618T>G c.105T>G (p.Asn35Lys) | |
| 8 | g.60741537T= | CA1788094461 | CHD7 | n.618T= c.105T= (p.Asn35=) | |
| 8 | g.60741538C>A | CA371295628 | CHD7 | n.619C>A c.106C>A (p.Pro36Thr) | |
| 8 | g.60741538C= | CA1788094464 | CHD7 | n.619C= c.106C= (p.Pro36=) | |
| 8 | g.60741538C>G | CA371295625 | CHD7 | n.619C>G c.106C>G (p.Pro36Ala) | |
| 8 | g.60741538C>T | CA371295620 | CHD7 | n.619C>T c.106C>T (p.Pro36Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741539C>A | CA371295632 | CHD7 | n.620C>A c.107C>A (p.Pro36His) | |
| 8 | g.60741539C>G | CA371295634 | CHD7 | n.620C>G c.107C>G (p.Pro36Arg) | ClinVar dbSNP |
| 8 | g.60741539C>T | CA371295638 | CHD7 | n.620C>T c.107C>T (p.Pro36Leu) | gnomAD v4 |
| 8 | g.60741540T>A | CA460837717 | CHD7 | n.621T>A c.108T>A (p.Pro36=) | |
| 8 | g.60741540T>C | CA460837718 | CHD7 | n.621T>C c.108T>C (p.Pro36=) | |
| 8 | g.60741540T>G | CA460837719 | CHD7 | n.621T>G c.108T>G (p.Pro36=) | |
| 8 | g.60741541A= | CA1788094466 | CHD7 | n.622A= c.109A= (p.Met37=) | |
| 8 | g.60741541A>C | CA371295641 | CHD7 | n.622A>C c.109A>C (p.Met37Leu) | |
| 8 | g.60741541A>G | CA371295642 | CHD7 | n.622A>G c.109A>G (p.Met37Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741541A>T | CA371295644 | CHD7 | n.622A>T c.109A>T (p.Met37Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741542T>A | CA371295648 | CHD7 | n.623T>A c.110T>A (p.Met37Lys) | |
| 8 | g.60741542T>C | CA371295654 | CHD7 | n.623T>C c.110T>C (p.Met37Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60741542T>G | CA371295651 | CHD7 | n.623T>G c.110T>G (p.Met37Arg) | |
| 8 | g.60741542T= | CA1788094470 | CHD7 | n.623T= c.110T= (p.Met37=) | |
| 8 | g.60741543G>A | CA371295655 | CHD7 | n.624G>A c.111G>A (p.Met37Ile) | |
| 8 | g.60741543G>C | CA371295656 | CHD7 | n.624G>C c.111G>C (p.Met37Ile) | |
| 8 | g.60741543G>T | CA371295660 | CHD7 | n.624G>T c.111G>T (p.Met37Ile) | |
| 8 | g.60741544G>A | CA371295667 | CHD7 | n.625G>A c.112G>A (p.Gly38Ser) | |
| 8 | g.60741544G>C | CA371295670 | CHD7 | n.625G>C c.112G>C (p.Gly38Arg) | |
| 8 | g.60741544G>T | CA371295679 | CHD7 | n.625G>T c.112G>T (p.Gly38Cys) | |
| 8 | g.60741545G>A | CA371295683 | CHD7 | n.626G>A c.113G>A (p.Gly38Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741545G>C | CA371295684 | CHD7 | n.626G>C c.113G>C (p.Gly38Ala) | |
| 8 | g.60741545G= | CA1788094474 | CHD7 | n.626G= c.113G= (p.Gly38=) | |
| 8 | g.60741545G>T | CA371295685 | CHD7 | n.626G>T c.113G>T (p.Gly38Val) | |
| 8 | g.60741546T>A | CA460837736 | CHD7 | n.627T>A c.114T>A (p.Gly38=) | |
| 8 | g.60741546T>C | CA460837739 | CHD7 | n.627T>C c.114T>C (p.Gly38=) | |
| 8 | g.60741546T>G | CA460837740 | CHD7 | n.627T>G c.114T>G (p.Gly38=) | |
| 8 | g.60741547C>A | CA371295686 | CHD7 | n.628C>A c.115C>A (p.Gln39Lys) | |
| 8 | g.60741547C>G | CA371295688 | CHD7 | n.628C>G c.115C>G (p.Gln39Glu) | |
| 8 | g.60741547C>T | CA371295694 | CHD7 | n.628C>T c.115C>T (p.Gln39Ter) | |
| 8 | g.60741548A>C | CA371295702 | CHD7 | n.629A>C c.116A>C (p.Gln39Pro) | |
| 8 | g.60741548A>G | CA371295705 | CHD7 | n.629A>G c.116A>G (p.Gln39Arg) | |
| 8 | g.60741548A>T | CA371295697 | CHD7 | n.629A>T c.116A>T (p.Gln39Leu) | gnomAD v4 |
| 8 | g.60741549G>A | CA460837749 | CHD7 | n.630G>A c.117G>A (p.Gln39=) | |
| 8 | g.60741549G>C | CA371295709 | CHD7 | n.630G>C c.117G>C (p.Gln39His) | |
| 8 | g.60741549G>T | CA371295712 | CHD7 | n.630G>T c.117G>T (p.Gln39His) | gnomAD v4 |
| 8 | g.60741550C>A | CA371295716 | CHD7 | n.631C>A c.118C>A (p.Gln40Lys) | |
| 8 | g.60741550C>G | CA371295719 | CHD7 | n.631C>G c.118C>G (p.Gln40Glu) | |
| 8 | g.60741550C>T | CA371295722 | CHD7 | n.631C>T c.118C>T (p.Gln40Ter) | |
| 8 | g.60741551A>C | CA371295726 | CHD7 | n.632A>C c.119A>C (p.Gln40Pro) | |
| 8 | g.60741551A>G | CA371295724 | CHD7 | n.632A>G c.119A>G (p.Gln40Arg) | gnomAD v4 |
| 8 | g.60741551A>T | CA371295725 | CHD7 | n.632A>T c.119A>T (p.Gln40Leu) | |
| 8 | g.60741552A= | CA1788094478 | CHD7 | n.633A= c.120A= (p.Gln40=) | |
| 8 | g.60741552A>C | CA4759264 | CHD7 | n.633A>C c.120A>C (p.Gln40His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741552A>G | CA460837756 | CHD7 | n.633A>G c.120A>G (p.Gln40=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741552A>T | CA371295728 | CHD7 | n.633A>T c.120A>T (p.Gln40His) | |
| 8 | g.60741553A>C | CA371295729 | CHD7 | n.634A>C c.121A>C (p.Met41Leu) | |
| 8 | g.60741553A>G | CA371295732 | CHD7 | n.634A>G c.121A>G (p.Met41Val) | |
| 8 | g.60741553A>T | CA371295734 | CHD7 | n.634A>T c.121A>T (p.Met41Leu) | |
| 8 | g.60741554T>A | CA371295735 | CHD7 | n.635T>A c.122T>A (p.Met41Lys) | |
| 8 | g.60741554T>C | CA371295740 | CHD7 | n.635T>C c.122T>C (p.Met41Thr) | ClinVar |
| 8 | g.60741554T>G | CA371295737 | CHD7 | n.635T>G c.122T>G (p.Met41Arg) | |
| 8 | g.60741555G>A | CA4759265 | CHD7 | n.636G>A c.123G>A (p.Met41Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741555G>C | CA371295748 | CHD7 | n.636G>C c.123G>C (p.Met41Ile) | |
| 8 | g.60741555G= | CA1788094482 | CHD7 | n.636G= c.123G= (p.Met41=) | |
| 8 | g.60741555G>T | CA371295744 | CHD7 | n.636G>T c.123G>T (p.Met41Ile) | |
| 8 | g.60741556C>A | CA371295751 | CHD7 | n.637C>A c.124C>A (p.Pro42Thr) | |
| 8 | g.60741556C= | CA1788094485 | CHD7 | n.637C= c.124C= (p.Pro42=) | |
| 8 | g.60741556C>G | CA371295754 | CHD7 | n.637C>G c.124C>G (p.Pro42Ala) | |
| 8 | g.60741556C>T | CA371295756 | CHD7 | n.637C>T c.124C>T (p.Pro42Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741556_60741560del | CA2687395191 | CHD7 | n.637_641del c.124_128del (p.Pro42ArgfsTer17) | gnomAD v4 |
| 8 | g.60741557C>A | CA371295765 | CHD7 | n.638C>A c.125C>A (p.Pro42Gln) | |
| 8 | g.60741557C>G | CA371295767 | CHD7 | n.638C>G c.125C>G (p.Pro42Arg) | |
| 8 | g.60741557C>T | CA371295771 | CHD7 | n.638C>T c.125C>T (p.Pro42Leu) | gnomAD v4 |
| 8 | g.60741558A>C | CA460837768 | CHD7 | n.639A>C c.126A>C (p.Pro42=) | |
| 8 | g.60741558A>G | CA460837769 | CHD7 | n.639A>G c.126A>G (p.Pro42=) | |
| 8 | g.60741558A>T | CA460837770 | CHD7 | n.639A>T c.126A>T (p.Pro42=) | |
| 8 | g.60741559A= | CA1788094501 | CHD7 | n.640A= c.127A= (p.Ile43=) | |
| 8 | g.60741559A>C | CA371295775 | CHD7 | n.640A>C c.127A>C (p.Ile43Leu) | |
| 8 | g.60741559A>G | CA4759266 | CHD7 | n.640A>G c.127A>G (p.Ile43Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741559A>T | CA371295780 | CHD7 | n.640A>T c.127A>T (p.Ile43Leu) | |
| 8 | g.60741560T>A | CA371295784 | CHD7 | n.641T>A c.128T>A (p.Ile43Lys) | |
| 8 | g.60741560T>C | CA371295786 | CHD7 | n.641T>C c.128T>C (p.Ile43Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741560T>G | CA371295790 | CHD7 | n.641T>G c.128T>G (p.Ile43Arg) | |
| 8 | g.60741560T= | CA1788094505 | CHD7 | n.641T= c.128T= (p.Ile43=) | |
| 8 | g.60741561A>C | CA460837776 | CHD7 | n.642A>C c.129A>C (p.Ile43=) | gnomAD v4 |
| 8 | g.60741561A>G | CA371295792 | CHD7 | n.642A>G c.129A>G (p.Ile43Met) | |
| 8 | g.60741561A>T | CA460837779 | CHD7 | n.642A>T c.129A>T (p.Ile43=) | |
| 8 | g.60741562G>A | CA371295795 | CHD7 | n.643G>A c.130G>A (p.Asp44Asn) | |
| 8 | g.60741562G>C | CA371295797 | CHD7 | n.643G>C c.130G>C (p.Asp44His) | |
| 8 | g.60741562G>T | CA371295796 | CHD7 | n.643G>T c.130G>T (p.Asp44Tyr) | |
| 8 | g.60741563A>C | CA371295798 | CHD7 | n.644A>C c.131A>C (p.Asp44Ala) | |
| 8 | g.60741563A>G | CA371295800 | CHD7 | n.644A>G c.131A>G (p.Asp44Gly) | gnomAD v4 |
| 8 | g.60741563A>T | CA371295803 | CHD7 | n.644A>T c.131A>T (p.Asp44Val) | |
| 8 | g.60741563_60741573del | CA2687395192 | CHD7 | n.644_654del c.131_141del (p.Asp44GlyfsTer13) | gnomAD v4 |
| 8 | g.60741564C>A | CA371295815 | CHD7 | n.645C>A c.132C>A (p.Asp44Glu) | gnomAD v4 |
| 8 | g.60741564C>G | CA371295819 | CHD7 | n.645C>G c.132C>G (p.Asp44Glu) | |
| 8 | g.60741564C>T | CA461102903 | CHD7 | n.645C>T c.132C>T (p.Asp44=) | |
| 8 | g.60741565C>A | CA371295822 | CHD7 | n.646C>A c.133C>A (p.Gln45Lys) | |
| 8 | g.60741565C>G | CA371295823 | CHD7 | n.646C>G c.133C>G (p.Gln45Glu) | |
| 8 | g.60741565C>T | CA371295830 | CHD7 | n.646C>T c.133C>T (p.Gln45Ter) | |
| 8 | g.60741566A= | CA1788094506 | CHD7 | n.647A= c.134A= (p.Gln45=) | |
| 8 | g.60741566A>C | CA371295833 | CHD7 | n.647A>C c.134A>C (p.Gln45Pro) | |
| 8 | g.60741566A>G | CA4759267 | CHD7 | n.647A>G c.134A>G (p.Gln45Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60741566A>T | CA371295849 | CHD7 | n.647A>T c.134A>T (p.Gln45Leu) | COSMIC |
| 8 | g.60741567A>C | CA371295858 | CHD7 | n.648A>C c.135A>C (p.Gln45His) | |
| 8 | g.60741567A>G | CA461102910 | CHD7 | n.648A>G c.135A>G (p.Gln45=) | |
| 8 | g.60741567A>T | CA371295860 | CHD7 | n.648A>T c.135A>T (p.Gln45His) | |
| 8 | g.60741568G>A | CA371295863 | CHD7 | n.649G>A c.136G>A (p.Gly46Ser) | |
| 8 | g.60741568G>C | CA4759268 | CHD7 | n.649G>C c.136G>C (p.Gly46Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.60741568G= | CA1788094507 | CHD7 | n.649G= c.136G= (p.Gly46=) | |
| 8 | g.60741568G>T | CA371295870 | CHD7 | n.649G>T c.136G>T (p.Gly46Cys) | dbSNP |
| 8 | g.60741569G>A | CA371295872 | CHD7 | n.650G>A c.137G>A (p.Gly46Asp) | |
| 8 | g.60741569G>C | CA371295875 | CHD7 | n.650G>C c.137G>C (p.Gly46Ala) | |
| 8 | g.60741569G= | CA1788094509 | CHD7 | n.650G= c.137G= (p.Gly46=) | |
| 8 | g.60741569G>T | CA4759269 | CHD7 | n.650G>T c.137G>T (p.Gly46Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741570C>A | CA461102918 | CHD7 | n.651C>A c.138C>A (p.Gly46=) | |
| 8 | g.60741570C>G | CA461102921 | CHD7 | n.651C>G c.138C>G (p.Gly46=) | |
| 8 | g.60741570C>T | CA461102922 | CHD7 | n.651C>T c.138C>T (p.Gly46=) | gnomAD v4 |
| 8 | g.60741571T>A | CA371295907 | CHD7 | n.652T>A c.139T>A (p.Phe47Ile) | |
| 8 | g.60741571T>C | CA371295880 | CHD7 | n.652T>C c.139T>C (p.Phe47Leu) | |
| 8 | g.60741571T>G | CA371295903 | CHD7 | n.652T>G c.139T>G (p.Phe47Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741571T= | CA1788094513 | CHD7 | n.652T= c.139T= (p.Phe47=) | |
| 8 | g.60741572T>A | CA371295909 | CHD7 | n.653T>A c.140T>A (p.Phe47Tyr) | |
| 8 | g.60741572T>C | CA371295910 | CHD7 | n.653T>C c.140T>C (p.Phe47Ser) | |
| 8 | g.60741572T>G | CA371295912 | CHD7 | n.653T>G c.140T>G (p.Phe47Cys) | |
| 8 | g.60741573T>A | CA371295915 | CHD7 | n.654T>A c.141T>A (p.Phe47Leu) | |
| 8 | g.60741573T>C | CA461102924 | CHD7 | n.654T>C c.141T>C (p.Phe47=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60741573T>G | CA371295917 | CHD7 | n.654T>G c.141T>G (p.Phe47Leu) | |
| 8 | g.60741574G>A | CA371295919 | CHD7 | n.655G>A c.142G>A (p.Ala48Thr) | gnomAD v4 |
| 8 | g.60741574G>C | CA371295925 | CHD7 | n.655G>C c.142G>C (p.Ala48Pro) | |
| 8 | g.60741574G>T | CA371295922 | CHD7 | n.655G>T c.142G>T (p.Ala48Ser) | |
| 8 | g.60741575C>A | CA371295929 | CHD7 | n.656C>A c.143C>A (p.Ala48Asp) | |
| 8 | g.60741575C>G | CA371295932 | CHD7 | n.656C>G c.143C>G (p.Ala48Gly) | |
| 8 | g.60741575C>T | CA371295937 | CHD7 | n.656C>T c.143C>T (p.Ala48Val) | |
| 8 | g.60741576C>A | CA461102930 | CHD7 | n.657C>A c.144C>A (p.Ala48=) | |
| 8 | g.60741576C= | CA1788094531 | CHD7 | n.657C= c.144C= (p.Ala48=) | |
| 8 | g.60741576C>G | CA461102928 | CHD7 | n.657C>G c.144C>G (p.Ala48=) | |
| 8 | g.60741576C>T | CA461102927 | CHD7 | n.657C>T c.144C>T (p.Ala48=) | dbSNP gnomAD v4 |
| 8 | g.60741577T>A | CA371295943 | CHD7 | n.658T>A c.145T>A (p.Ser49Thr) | |
| 8 | g.60741577T>C | CA371295946 | CHD7 | n.658T>C c.145T>C (p.Ser49Pro) | |
| 8 | g.60741577T>G | CA371295949 | CHD7 | n.658T>G c.145T>G (p.Ser49Ala) | |
| 8 | g.60741578C>A | CA371295952 | CHD7 | n.659C>A c.146C>A (p.Ser49Tyr) | |
| 8 | g.60741578C>G | CA371295955 | CHD7 | n.659C>G c.146C>G (p.Ser49Cys) | |
| 8 | g.60741578C>T | CA371295957 | CHD7 | n.659C>T c.146C>T (p.Ser49Phe) | |
| 8 | g.60741579T>A | CA461102936 | CHD7 | n.660T>A c.147T>A (p.Ser49=) | |
| 8 | g.60741579T>C | CA461102937 | CHD7 | n.660T>C c.147T>C (p.Ser49=) | |
| 8 | g.60741579T>G | CA461102938 | CHD7 | n.660T>G c.147T>G (p.Ser49=) | |
| 8 | g.60741580T>A | CA371295960 | CHD7 | n.661T>A c.148T>A (p.Leu50Ile) | |
| 8 | g.60741580T>C | CA461102941 | CHD7 | n.661T>C c.148T>C (p.Leu50=) | |
| 8 | g.60741580T>G | CA371295972 | CHD7 | n.661T>G c.148T>G (p.Leu50Val) | |
| 8 | g.60741581T>A | CA371295974 | CHD7 | n.662T>A c.149T>A (p.Leu50Ter) | |
| 8 | g.60741581T>C | CA371295979 | CHD7 | n.662T>C c.149T>C (p.Leu50Ser) | |
| 8 | g.60741581T>G | CA371295977 | CHD7 | n.662T>G c.149T>G (p.Leu50Ter) | |
| 8 | g.60741582A>C | CA371295982 | CHD7 | n.663A>C c.150A>C (p.Leu50Phe) | |
| 8 | g.60741582A>G | CA461102948 | CHD7 | n.663A>G c.150A>G (p.Leu50=) | |
| 8 | g.60741582A>T | CA371295983 | CHD7 | n.663A>T c.150A>T (p.Leu50Phe) | |
| 8 | g.60741583C>A | CA371295987 | CHD7 | n.664C>A c.151C>A (p.Gln51Lys) | |
| 8 | g.60741583C= | CA1788094536 | CHD7 | n.664C= c.151C= (p.Gln51=) | |
| 8 | g.60741583C>G | CA371296004 | CHD7 | n.664C>G c.151C>G (p.Gln51Glu) | |
| 8 | g.60741583C>T | CA10588456 | CHD7 | n.664C>T c.151C>T (p.Gln51Ter) | ClinVar dbSNP |
| 8 | g.60741584A= | CA1788094539 | CHD7 | n.665A= c.152A= (p.Gln51=) | |
| 8 | g.60741584A>C | CA371296008 | CHD7 | n.665A>C c.152A>C (p.Gln51Pro) | |
| 8 | g.60741584A>G | CA371296017 | CHD7 | n.665A>G c.152A>G (p.Gln51Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.60741584A>T | CA371296014 | CHD7 | n.665A>T c.152A>T (p.Gln51Leu) | |
| 8 | g.60741585G>A | CA461102956 | CHD7 | n.666G>A c.153G>A (p.Gln51=) | |
| 8 | g.60741585G>C | CA371296020 | CHD7 | n.666G>C c.153G>C (p.Gln51His) | |
| 8 | g.60741585G= | CA1788094543 | CHD7 | n.666G= c.153G= (p.Gln51=) | |
| 8 | g.60741585G>T | CA177312416 | CHD7 | n.666G>T c.153G>T (p.Gln51His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.60741586C>A | CA371296029 | CHD7 | n.667C>A c.154C>A (p.Pro52Thr) | |
| 8 | g.60741586C= | CA1788094546 | CHD7 | n.667C= c.154C= (p.Pro52=) | |
| 8 | g.60741586C>G | CA371296032 | CHD7 | n.667C>G c.154C>G (p.Pro52Ala) | |
| 8 | g.60741586C>T | CA371296035 | CHD7 | n.667C>T c.154C>T (p.Pro52Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741587C>A | CA371296036 | CHD7 | n.668C>A c.155C>A (p.Pro52Gln) | |
| 8 | g.60741587C= | CA1788094549 | CHD7 | n.668C= c.155C= (p.Pro52=) | |
| 8 | g.60741587C>G | CA177312424 | CHD7 | n.668C>G c.155C>G (p.Pro52Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741587C>T | CA371296037 | CHD7 | n.668C>T c.155C>T (p.Pro52Leu) | |
| 8 | g.60741588A= | CA1788094554 | CHD7 | n.669A= c.156A= (p.Pro52=) | |
| 8 | g.60741588A>C | CA461102967 | CHD7 | n.669A>C c.156A>C (p.Pro52=) | |
| 8 | g.60741588A>G | CA223273 | CHD7 | n.669A>G c.156A>G (p.Pro52=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741588A>T | CA461102968 | CHD7 | n.669A>T c.156A>T (p.Pro52=) | |
| 8 | g.60741589T>A | CA371296041 | CHD7 | n.670T>A c.157T>A (p.Ser53Thr) | dbSNP gnomAD v4 |
| 8 | g.60741589T>C | CA371296044 | CHD7 | n.670T>C c.157T>C (p.Ser53Pro) | dbSNP |
| 8 | g.60741589T>G | CA371296047 | CHD7 | n.670T>G c.157T>G (p.Ser53Ala) | |
| 8 | g.60741589T= | CA1788094558 | CHD7 | n.670T= c.157T= (p.Ser53=) | |
| 8 | g.60741590C>A | CA371296062 | CHD7 | n.671C>A c.158C>A (p.Ser53Tyr) | |
| 8 | g.60741590C>G | CA371296055 | CHD7 | n.671C>G c.158C>G (p.Ser53Cys) | |
| 8 | g.60741590C>T | CA371296052 | CHD7 | n.671C>T c.158C>T (p.Ser53Phe) | |
| 8 | g.60741592del | CA2695209541 | CHD7 | n.673del c.160del (p.Leu54PhefsTer13) | |
| 8 | g.60741591C>A | CA461102975 | CHD7 | n.672C>A c.159C>A (p.Ser53=) | |
| 8 | g.60741591C>G | CA461102977 | CHD7 | n.672C>G c.159C>G (p.Ser53=) | |
| 8 | g.60741591C>T | CA461102980 | CHD7 | n.672C>T c.159C>T (p.Ser53=) | |
| 8 | g.60741592C>A | CA371296071 | CHD7 | n.673C>A c.160C>A (p.Leu54Ile) | |
| 8 | g.60741592C>G | CA371296072 | CHD7 | n.673C>G c.160C>G (p.Leu54Val) | ClinVar gnomAD v4 |
| 8 | g.60741592C>T | CA371296077 | CHD7 | n.673C>T c.160C>T (p.Leu54Phe) | gnomAD v4 |
| 8 | g.60741593T>A | CA371296079 | CHD7 | n.674T>A c.161T>A (p.Leu54His) | |
| 8 | g.60741593T>C | CA371296080 | CHD7 | n.674T>C c.161T>C (p.Leu54Pro) | |
| 8 | g.60741593T>G | CA371296083 | CHD7 | n.674T>G c.161T>G (p.Leu54Arg) | |
| 8 | g.60741594T>A | CA461102986 | CHD7 | n.675T>A c.162T>A (p.Leu54=) | |
| 8 | g.60741594T>C | CA461102987 | CHD7 | n.675T>C c.162T>C (p.Leu54=) | |
| 8 | g.60741594T>G | CA461102988 | CHD7 | n.675T>G c.162T>G (p.Leu54=) | |
| 8 | g.60741595C>A | CA371296086 | CHD7 | n.676C>A c.163C>A (p.His55Asn) | |
| 8 | g.60741595C>G | CA371296097 | CHD7 | n.676C>G c.163C>G (p.His55Asp) | |
| 8 | g.60741595C>T | CA371296101 | CHD7 | n.676C>T c.163C>T (p.His55Tyr) | |
| 8 | g.60741596A= | CA1788094563 | CHD7 | n.677A= c.164A= (p.His55=) | |
| 8 | g.60741596A>C | CA371296113 | CHD7 | n.677A>C c.164A>C (p.His55Pro) | |
| 8 | g.60741596A>G | CA252065 | CHD7 | n.677A>G c.164A>G (p.His55Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741596A>T | CA371296121 | CHD7 | n.677A>T c.164A>T (p.His55Leu) | |
| 8 | g.60741597T>A | CA371296128 | CHD7 | n.678T>A c.165T>A (p.His55Gln) | |
| 8 | g.60741597T>C | CA461102992 | CHD7 | n.678T>C c.165T>C (p.His55=) | ClinVar |
| 8 | g.60741597T>G | CA371296124 | CHD7 | n.678T>G c.165T>G (p.His55Gln) | |
| 8 | g.60741598C>A | CA371296130 | CHD7 | n.679C>A c.166C>A (p.His56Asn) | |
| 8 | g.60741598C= | CA1788094565 | CHD7 | n.679C= c.166C= (p.His56=) | |
| 8 | g.60741598C>G | CA371296132 | CHD7 | n.679C>G c.166C>G (p.His56Asp) | |
| 8 | g.60741598C>T | CA371296135 | CHD7 | n.679C>T c.166C>T (p.His56Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.60741599A>C | CA371296137 | CHD7 | n.680A>C c.167A>C (p.His56Pro) | |
| 8 | g.60741599A>G | CA371296139 | CHD7 | n.680A>G c.167A>G (p.His56Arg) | gnomAD v4 |
| 8 | g.60741599A>T | CA371296140 | CHD7 | n.680A>T c.167A>T (p.His56Leu) | |
| 8 | g.60741600T>A | CA371296141 | CHD7 | n.681T>A c.168T>A (p.His56Gln) | |
| 8 | g.60741600T>C | CA177312439 | CHD7 | n.681T>C c.168T>C (p.His56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.60741600T>G | CA371296143 | CHD7 | n.681T>G c.168T>G (p.His56Gln) | |
| 8 | g.60741600T= | CA1788094569 | CHD7 | n.681T= c.168T= (p.His56=) | |
| 8 | g.60741600_60741609del | CA2695209542 | CHD7 | n.681_690del c.168_177del (p.His56GlnfsTer8) | |
| 8 | g.60741601C>A | CA371296149 | CHD7 | n.682C>A c.169C>A (p.Pro57Thr) | |
| 8 | g.60741601C>G | CA371296151 | CHD7 | n.682C>G c.169C>G (p.Pro57Ala) | |
| 8 | g.60741601C>T | CA371296153 | CHD7 | n.682C>T c.169C>T (p.Pro57Ser) | |
| 8 | g.60741602_60741603insCCC | CA2568224014 | CHD7 | n.683_684insCCC c.170_171insCCC (p.Pro57_Ser58insPro) | |
| 8 | g.60741602C>A | CA371296167 | CHD7 | n.683C>A c.170C>A (p.Pro57His) | |
| 8 | g.60741602C>G | CA371296163 | CHD7 | n.683C>G c.170C>G (p.Pro57Arg) | |
| 8 | g.60741602C>T | CA371296161 | CHD7 | n.683C>T c.170C>T (p.Pro57Leu) | |
| 8 | g.60741603T>A | CA461103003 | CHD7 | n.684T>A c.171T>A (p.Pro57=) | |
| 8 | g.60741603T>C | CA461103004 | CHD7 | n.684T>C c.171T>C (p.Pro57=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.60741603T>G | CA461103005 | CHD7 | n.684T>G c.171T>G (p.Pro57=) | |
| 8 | g.60741603T= | CA1788094572 | CHD7 | n.684T= c.171T= (p.Pro57=) | |
| 8 | g.60741604T>A | CA371296168 | CHD7 | n.685T>A c.172T>A (p.Ser58Thr) | |
| 8 | g.60741604T>C | CA371296169 | CHD7 | n.685T>C c.172T>C (p.Ser58Pro) | |
| 8 | g.60741604T>G | CA371296172 | CHD7 | n.685T>G c.172T>G (p.Ser58Ala) | |
| 8 | g.60741605C>A | CA371296174 | CHD7 | n.686C>A c.173C>A (p.Ser58Ter) | |
| 8 | g.60741605C>G | CA371296178 | CHD7 | n.686C>G c.173C>G (p.Ser58Ter) | |
| 8 | g.60741605C>T | CA371296180 | CHD7 | n.686C>T c.173C>T (p.Ser58Leu) | |
| 8 | g.60741606A= | CA1788094575 | CHD7 | n.687A= c.174A= (p.Ser58=) | |
| 8 | g.60741606A>C | CA461103010 | CHD7 | n.687A>C c.174A>C (p.Ser58=) | |
| 8 | g.60741606A>G | CA461103011 | CHD7 | n.687A>G c.174A>G (p.Ser58=) | dbSNP |
| 8 | g.60741606A>T | CA461103012 | CHD7 | n.687A>T c.174A>T (p.Ser58=) |