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 |
|---|---|---|---|---|---|
| 15 | g.73323896C>A | CA393089459 | HCN4 | c.2197G>T (p.Val733Phe) c.979G>T (p.Val327Phe) | |
| 15 | g.73323896C= | CA2187188785 | HCN4 | c.2197G= (p.Val733=) c.979G= (p.Val327=) | |
| 15 | g.73323896C>G | CA393089457 | HCN4 | c.2197G>C (p.Val733Leu) c.979G>C (p.Val327Leu) | |
| 15 | g.73323896C>T | CA068221 | HCN4 | c.2197G>A (p.Val733Ile) c.979G>A (p.Val327Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323898_73323912del | CA2629370904 | HCN4 | c.2183_2197del (p.Asp728_Gly732del) c.965_979del (p.Asp322_Gly326del) | gnomAD v4 |
| 15 | g.73323897G>A | CA7649078 | HCN4 | c.2196C>T (p.Gly732=) c.978C>T (p.Gly326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323897G>C | CA491478689 | HCN4 | c.2196C>G (p.Gly732=) c.978C>G (p.Gly326=) | |
| 15 | g.73323897G= | CA2187188787 | HCN4 | c.2196C= (p.Gly732=) c.978C= (p.Gly326=) | |
| 15 | g.73323897G>T | CA491478690 | HCN4 | c.2196C>A (p.Gly732=) c.978C>A (p.Gly326=) | gnomAD v4 |
| 15 | g.73323898C>A | CA393089461 | HCN4 | c.2195G>T (p.Gly732Val) c.977G>T (p.Gly326Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323898C= | CA2187188790 | HCN4 | c.2195G= (p.Gly732=) c.977G= (p.Gly326=) | |
| 15 | g.73323898C>G | CA16622142 | HCN4 | c.2195G>C (p.Gly732Ala) c.977G>C (p.Gly326Ala) | |
| 15 | g.73323898C>T | CA393089462 | HCN4 | c.2195G>A (p.Gly732Asp) c.977G>A (p.Gly326Asp) | |
| 15 | g.73323899C>A | CA393089465 | HCN4 | c.2194G>T (p.Gly732Cys) c.976G>T (p.Gly326Cys) | |
| 15 | g.73323899C= | CA2187188792 | HCN4 | c.2194G= (p.Gly732=) c.976G= (p.Gly326=) | |
| 15 | g.73323899C>G | CA393089466 | HCN4 | c.2194G>C (p.Gly732Arg) c.976G>C (p.Gly326Arg) | |
| 15 | g.73323899C>T | CA236701 | HCN4 | c.2194G>A (p.Gly732Ser) c.976G>A (p.Gly326Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323900G>A | CA272665122 | HCN4 | c.2193C>T (p.Ser731=) c.975C>T (p.Ser325=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73323900G>C | CA491478698 | HCN4 | c.2193C>G (p.Ser731=) c.975C>G (p.Ser325=) | |
| 15 | g.73323900G= | CA2187188797 | HCN4 | c.2193C= (p.Ser731=) c.975C= (p.Ser325=) | |
| 15 | g.73323900G>T | CA491478699 | HCN4 | c.2193C>A (p.Ser731=) c.975C>A (p.Ser325=) | gnomAD v4 |
| 15 | g.73323901G>A | CA393089469 | HCN4 | c.2192C>T (p.Ser731Phe) c.974C>T (p.Ser325Phe) | |
| 15 | g.73323901G>C | CA393089471 | HCN4 | c.2192C>G (p.Ser731Cys) c.974C>G (p.Ser325Cys) | |
| 15 | g.73323901G>T | CA393089472 | HCN4 | c.2192C>A (p.Ser731Tyr) c.974C>A (p.Ser325Tyr) | gnomAD v4 |
| 15 | g.73323902A>C | CA393089474 | HCN4 | c.2191T>G (p.Ser731Ala) c.973T>G (p.Ser325Ala) | |
| 15 | g.73323902A>G | CA393089476 | HCN4 | c.2191T>C (p.Ser731Pro) c.973T>C (p.Ser325Pro) | |
| 15 | g.73323902A>T | CA393089477 | HCN4 | c.2191T>A (p.Ser731Thr) c.973T>A (p.Ser325Thr) | |
| 15 | g.73323903G>A | CA491478703 | HCN4 | c.2190C>T (p.Asn730=) c.972C>T (p.Asn324=) | gnomAD v4 |
| 15 | g.73323903G>C | CA393089479 | HCN4 | c.2190C>G (p.Asn730Lys) c.972C>G (p.Asn324Lys) | gnomAD v4 |
| 15 | g.73323903G>T | CA393089478 | HCN4 | c.2190C>A (p.Asn730Lys) c.972C>A (p.Asn324Lys) | gnomAD v4 |
| 15 | g.73323904T>A | CA393089482 | HCN4 | c.2189A>T (p.Asn730Ile) c.971A>T (p.Asn324Ile) | |
| 15 | g.73323904T>C | CA393089483 | HCN4 | c.2189A>G (p.Asn730Ser) c.971A>G (p.Asn324Ser) | |
| 15 | g.73323904T>G | CA393089484 | HCN4 | c.2189A>C (p.Asn730Thr) c.971A>C (p.Asn324Thr) | |
| 15 | g.73323905T>A | CA393089487 | HCN4 | c.2188A>T (p.Asn730Tyr) c.970A>T (p.Asn324Tyr) | |
| 15 | g.73323905T>C | CA393089489 | HCN4 | c.2188A>G (p.Asn730Asp) c.970A>G (p.Asn324Asp) | |
| 15 | g.73323905T>G | CA393089490 | HCN4 | c.2188A>C (p.Asn730His) c.970A>C (p.Asn324His) | |
| 15 | g.73323906G>A | CA491478712 | HCN4 | c.2187C>T (p.Leu729=) c.969C>T (p.Leu323=) | |
| 15 | g.73323906G>C | CA7649079 | HCN4 | c.2187C>G (p.Leu729=) c.969C>G (p.Leu323=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323906G= | CA2187188802 | HCN4 | c.2187C= (p.Leu729=) c.969C= (p.Leu323=) | |
| 15 | g.73323906G>T | CA491478713 | HCN4 | c.2187C>A (p.Leu729=) c.969C>A (p.Leu323=) | |
| 15 | g.73323907A>C | CA393089493 | HCN4 | c.2186T>G (p.Leu729Arg) c.968T>G (p.Leu323Arg) | |
| 15 | g.73323907A>G | CA393089494 | HCN4 | c.2186T>C (p.Leu729Pro) c.968T>C (p.Leu323Pro) | |
| 15 | g.73323907A>T | CA393089496 | HCN4 | c.2186T>A (p.Leu729His) c.968T>A (p.Leu323His) | |
| 15 | g.73323908G>A | CA393089498 | HCN4 | c.2185C>T (p.Leu729Phe) c.967C>T (p.Leu323Phe) | gnomAD v4 |
| 15 | g.73323908G>C | CA393089500 | HCN4 | c.2185C>G (p.Leu729Val) c.967C>G (p.Leu323Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323908G= | CA2187188805 | HCN4 | c.2185C= (p.Leu729=) c.967C= (p.Leu323=) | |
| 15 | g.73323908G>T | CA393089502 | HCN4 | c.2185C>A (p.Leu729Ile) c.967C>A (p.Leu323Ile) | gnomAD v4 |
| 15 | g.73323909G>A | CA7649080 | HCN4 | c.2184C>T (p.Asp728=) c.966C>T (p.Asp322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323909G>C | CA393089504 | HCN4 | c.2184C>G (p.Asp728Glu) c.966C>G (p.Asp322Glu) | |
| 15 | g.73323909G= | CA2187188807 | HCN4 | c.2184C= (p.Asp728=) c.966C= (p.Asp322=) | |
| 15 | g.73323909G>T | CA393089506 | HCN4 | c.2184C>A (p.Asp728Glu) c.966C>A (p.Asp322Glu) | gnomAD v4 |
| 15 | g.73323910T>A | CA393089511 | HCN4 | c.2183A>T (p.Asp728Val) c.965A>T (p.Asp322Val) | |
| 15 | g.73323910T>C | CA393089515 | HCN4 | c.2183A>G (p.Asp728Gly) c.965A>G (p.Asp322Gly) | |
| 15 | g.73323910T>G | CA393089513 | HCN4 | c.2183A>C (p.Asp728Ala) c.965A>C (p.Asp322Ala) | |
| 15 | g.73323911C>A | CA393089517 | HCN4 | c.2182G>T (p.Asp728Tyr) c.964G>T (p.Asp322Tyr) | gnomAD v4 |
| 15 | g.73323911C= | CA2187188813 | HCN4 | c.2182G= (p.Asp728=) c.964G= (p.Asp322=) | |
| 15 | g.73323911C>G | CA393089519 | HCN4 | c.2182G>C (p.Asp728His) c.964G>C (p.Asp322His) | |
| 15 | g.73323911C>T | CA7649081 | HCN4 | c.2182G>A (p.Asp728Asn) c.964G>A (p.Asp322Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.73323912G>A | CA7649082 | HCN4 | c.2181C>T (p.His727=) c.963C>T (p.His321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323912G>C | CA393089523 | HCN4 | c.2181C>G (p.His727Gln) c.963C>G (p.His321Gln) | |
| 15 | g.73323912G= | CA2187188820 | HCN4 | c.2181C= (p.His727=) c.963C= (p.His321=) | |
| 15 | g.73323912G>T | CA393089524 | HCN4 | c.2181C>A (p.His727Gln) c.963C>A (p.His321Gln) | gnomAD v4 |
| 15 | g.73323913T>A | CA393089526 | HCN4 | c.2180A>T (p.His727Leu) c.962A>T (p.His321Leu) | |
| 15 | g.73323913T>C | CA393089527 | HCN4 | c.2180A>G (p.His727Arg) c.962A>G (p.His321Arg) | |
| 15 | g.73323913T>G | CA393089529 | HCN4 | c.2180A>C (p.His727Pro) c.962A>C (p.His321Pro) | gnomAD v4 |
| 15 | g.73323914G>A | CA393089531 | HCN4 | c.2179C>T (p.His727Tyr) c.961C>T (p.His321Tyr) | |
| 15 | g.73323914G>C | CA393089532 | HCN4 | c.2179C>G (p.His727Asp) c.961C>G (p.His321Asp) | |
| 15 | g.73323914G>T | CA393089534 | HCN4 | c.2179C>A (p.His727Asn) c.961C>A (p.His321Asn) | |
| 15 | g.73323915C>A | CA393089537 | HCN4 | c.2178G>T (p.Gln726His) c.960G>T (p.Gln320His) | |
| 15 | g.73323915C>G | CA393089536 | HCN4 | c.2178G>C (p.Gln726His) c.960G>C (p.Gln320His) | |
| 15 | g.73323915C>T | CA491478730 | HCN4 | c.2178G>A (p.Gln726=) c.960G>A (p.Gln320=) | |
| 15 | g.73323916T>A | CA393089539 | HCN4 | c.2177A>T (p.Gln726Leu) c.959A>T (p.Gln320Leu) | |
| 15 | g.73323916T>C | CA393089541 | HCN4 | c.2177A>G (p.Gln726Arg) c.959A>G (p.Gln320Arg) | |
| 15 | g.73323916T>G | CA393089543 | HCN4 | c.2177A>C (p.Gln726Pro) c.959A>C (p.Gln320Pro) | |
| 15 | g.73323917G>A | CA393089544 | HCN4 | c.2176C>T (p.Gln726Ter) c.958C>T (p.Gln320Ter) | |
| 15 | g.73323917G>C | CA393089545 | HCN4 | c.2176C>G (p.Gln726Glu) c.958C>G (p.Gln320Glu) | |
| 15 | g.73323917G>T | CA393089547 | HCN4 | c.2176C>A (p.Gln726Lys) c.958C>A (p.Gln320Lys) | |
| 15 | g.73323918G>A | CA491478732 | HCN4 | c.2175C>T (p.Val725=) c.957C>T (p.Val319=) | |
| 15 | g.73323918G>C | CA491478733 | HCN4 | c.2175C>G (p.Val725=) c.957C>G (p.Val319=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.73323918G= | CA2187188825 | HCN4 | c.2175C= (p.Val725=) c.957C= (p.Val319=) | |
| 15 | g.73323918G>T | CA491478734 | HCN4 | c.2175C>A (p.Val725=) c.957C>A (p.Val319=) | gnomAD v4 |
| 15 | g.73323919A>C | CA393089552 | HCN4 | c.2174T>G (p.Val725Gly) c.956T>G (p.Val319Gly) | |
| 15 | g.73323919A>G | CA393089549 | HCN4 | c.2174T>C (p.Val725Ala) c.956T>C (p.Val319Ala) | |
| 15 | g.73323919A>T | CA393089550 | HCN4 | c.2174T>A (p.Val725Asp) c.956T>A (p.Val319Asp) | gnomAD v4 |
| 15 | g.73323920C>A | CA393089554 | HCN4 | c.2173G>T (p.Val725Phe) c.955G>T (p.Val319Phe) | |
| 15 | g.73323920C= | CA2187188829 | HCN4 | c.2173G= (p.Val725=) c.955G= (p.Val319=) | |
| 15 | g.73323920C>G | CA393089556 | HCN4 | c.2173G>C (p.Val725Leu) c.955G>C (p.Val319Leu) | |
| 15 | g.73323920C>T | CA393089557 | HCN4 | c.2173G>A (p.Val725Ile) c.955G>A (p.Val319Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323921T>A | CA393089559 | HCN4 | c.2172A>T (p.Lys724Asn) c.954A>T (p.Lys318Asn) | |
| 15 | g.73323921T>C | CA491478742 | HCN4 | c.2172A>G (p.Lys724=) c.954A>G (p.Lys318=) | |
| 15 | g.73323921T>G | CA393089561 | HCN4 | c.2172A>C (p.Lys724Asn) c.954A>C (p.Lys318Asn) | |
| 15 | g.73323922T>A | CA393089563 | HCN4 | c.2171A>T (p.Lys724Ile) c.953A>T (p.Lys318Ile) | |
| 15 | g.73323922T>C | CA393089566 | HCN4 | c.2171A>G (p.Lys724Arg) c.953A>G (p.Lys318Arg) | |
| 15 | g.73323922T>G | CA393089565 | HCN4 | c.2171A>C (p.Lys724Thr) c.953A>C (p.Lys318Thr) | |
| 15 | g.73323923T>A | CA393089568 | HCN4 | c.2170A>T (p.Lys724Ter) c.952A>T (p.Lys318Ter) | |
| 15 | g.73323923T>C | CA393089570 | HCN4 | c.2170A>G (p.Lys724Glu) c.952A>G (p.Lys318Glu) | dbSNP gnomAD v4 |
| 15 | g.73323923T>G | CA393089571 | HCN4 | c.2170A>C (p.Lys724Gln) c.952A>C (p.Lys318Gln) | |
| 15 | g.73323923T= | CA2187188832 | HCN4 | c.2170A= (p.Lys724=) c.952A= (p.Lys318=) | |
| 15 | g.73323924G>A | CA491478750 | HCN4 | c.2169C>T (p.His723=) c.951C>T (p.His317=) | gnomAD v4 |
| 15 | g.73323924G>C | CA393089572 | HCN4 | c.2169C>G (p.His723Gln) c.951C>G (p.His317Gln) | |
| 15 | g.73323924G>T | CA393089573 | HCN4 | c.2169C>A (p.His723Gln) c.951C>A (p.His317Gln) | |
| 15 | g.73323925T>A | CA393089578 | HCN4 | c.2168A>T (p.His723Leu) c.950A>T (p.His317Leu) | |
| 15 | g.73323925T>C | CA393089577 | HCN4 | c.2168A>G (p.His723Arg) c.950A>G (p.His317Arg) | |
| 15 | g.73323925T>G | CA393089576 | HCN4 | c.2168A>C (p.His723Pro) c.950A>C (p.His317Pro) | |
| 15 | g.73323926G>A | CA393089580 | HCN4 | c.2167C>T (p.His723Tyr) c.949C>T (p.His317Tyr) | gnomAD v4 |
| 15 | g.73323926G>C | CA393089581 | HCN4 | c.2167C>G (p.His723Asp) c.949C>G (p.His317Asp) | |
| 15 | g.73323926G>T | CA393089583 | HCN4 | c.2167C>A (p.His723Asn) c.949C>A (p.His317Asn) | gnomAD v4 |
| 15 | g.73323927G>A | CA491478759 | HCN4 | c.2166C>T (p.Leu722=) c.948C>T (p.Leu316=) | ClinVar |
| 15 | g.73323927G>C | CA491478761 | HCN4 | c.2166C>G (p.Leu722=) c.948C>G (p.Leu316=) | |
| 15 | g.73323927G>T | CA491478763 | HCN4 | c.2166C>A (p.Leu722=) c.948C>A (p.Leu316=) | |
| 15 | g.73323928A>C | CA393089585 | HCN4 | c.2165T>G (p.Leu722Arg) c.947T>G (p.Leu316Arg) | |
| 15 | g.73323928A>G | CA393089587 | HCN4 | c.2165T>C (p.Leu722Pro) c.947T>C (p.Leu316Pro) | |
| 15 | g.73323928A>T | CA393089588 | HCN4 | c.2165T>A (p.Leu722His) c.947T>A (p.Leu316His) | |
| 15 | g.73323929G>A | CA7649083 | HCN4 | c.2164C>T (p.Leu722Phe) c.946C>T (p.Leu316Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323929G>C | CA393089591 | HCN4 | c.2164C>G (p.Leu722Val) c.946C>G (p.Leu316Val) | |
| 15 | g.73323929G= | CA2187188834 | HCN4 | c.2164C= (p.Leu722=) c.946C= (p.Leu316=) | |
| 15 | g.73323929G>T | CA393089590 | HCN4 | c.2164C>A (p.Leu722Ile) c.946C>A (p.Leu316Ile) | |
| 15 | g.73323930G>A | CA491478770 | HCN4 | c.2163C>T (p.Leu721=) c.945C>T (p.Leu315=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323930G>C | CA491478771 | HCN4 | c.2163C>G (p.Leu721=) c.945C>G (p.Leu315=) | |
| 15 | g.73323930G= | CA2187188838 | HCN4 | c.2163C= (p.Leu721=) c.945C= (p.Leu315=) | |
| 15 | g.73323930G>T | CA491478773 | HCN4 | c.2163C>A (p.Leu721=) c.945C>A (p.Leu315=) | gnomAD v4 |
| 15 | g.73323931A>C | CA393089592 | HCN4 | c.2162T>G (p.Leu721Arg) c.944T>G (p.Leu315Arg) | |
| 15 | g.73323931A>G | CA393089595 | HCN4 | c.2162T>C (p.Leu721Pro) c.944T>C (p.Leu315Pro) | |
| 15 | g.73323931A>T | CA393089597 | HCN4 | c.2162T>A (p.Leu721His) c.944T>A (p.Leu315His) | |
| 15 | g.73323932G>A | CA393089598 | HCN4 | c.2161C>T (p.Leu721Phe) c.943C>T (p.Leu315Phe) | gnomAD v4 |
| 15 | g.73323932G>C | CA393089600 | HCN4 | c.2161C>G (p.Leu721Val) c.943C>G (p.Leu315Val) | |
| 15 | g.73323932G>T | CA393089602 | HCN4 | c.2161C>A (p.Leu721Ile) c.943C>A (p.Leu315Ile) | |
| 15 | g.73323933G>A | CA491478782 | HCN4 | c.2160C>T (p.Ile720=) c.942C>T (p.Ile314=) | |
| 15 | g.73323933G>C | CA393089603 | HCN4 | c.2160C>G (p.Ile720Met) c.942C>G (p.Ile314Met) | |
| 15 | g.73323933G>T | CA491478780 | HCN4 | c.2160C>A (p.Ile720=) c.942C>A (p.Ile314=) | ClinVar dbSNP |
| 15 | g.73323934A>C | CA393089605 | HCN4 | c.2159T>G (p.Ile720Ser) c.941T>G (p.Ile314Ser) | |
| 15 | g.73323934A>G | CA393089607 | HCN4 | c.2159T>C (p.Ile720Thr) c.941T>C (p.Ile314Thr) | |
| 15 | g.73323934A>T | CA393089609 | HCN4 | c.2159T>A (p.Ile720Asn) c.941T>A (p.Ile314Asn) | |
| 15 | g.73323935T>A | CA393089610 | HCN4 | c.2158A>T (p.Ile720Phe) c.940A>T (p.Ile314Phe) | |
| 15 | g.73323935T>C | CA393089614 | HCN4 | c.2158A>G (p.Ile720Val) c.940A>G (p.Ile314Val) | |
| 15 | g.73323935T>G | CA393089612 | HCN4 | c.2158A>C (p.Ile720Leu) c.940A>C (p.Ile314Leu) | gnomAD v4 COSMIC |
| 15 | g.73323936G>A | CA272665129 | HCN4 | c.2157C>T (p.Ser719=) c.939C>T (p.Ser313=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323936G>C | CA491478786 | HCN4 | c.2157C>G (p.Ser719=) c.939C>G (p.Ser313=) | |
| 15 | g.73323936G= | CA2187188842 | HCN4 | c.2157C= (p.Ser719=) c.939C= (p.Ser313=) | |
| 15 | g.73323936G>T | CA491478784 | HCN4 | c.2157C>A (p.Ser719=) c.939C>A (p.Ser313=) | gnomAD v4 |
| 15 | g.73323937G>A | CA393089615 | HCN4 | c.2156C>T (p.Ser719Phe) c.938C>T (p.Ser313Phe) | |
| 15 | g.73323937G>C | CA393089617 | HCN4 | c.2156C>G (p.Ser719Cys) c.938C>G (p.Ser313Cys) | |
| 15 | g.73323937G= | CA2187188844 | HCN4 | c.2156C= (p.Ser719=) c.938C= (p.Ser313=) | |
| 15 | g.73323937G>T | CA7649084 | HCN4 | c.2156C>A (p.Ser719Tyr) c.938C>A (p.Ser313Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323938A>C | CA393089619 | HCN4 | c.2155T>G (p.Ser719Ala) c.937T>G (p.Ser313Ala) | |
| 15 | g.73323938A>G | CA393089623 | HCN4 | c.2155T>C (p.Ser719Pro) c.937T>C (p.Ser313Pro) | gnomAD v4 |
| 15 | g.73323938A>T | CA393089621 | HCN4 | c.2155T>A (p.Ser719Thr) c.937T>A (p.Ser313Thr) | |
| 15 | g.73323939G>A | CA7649085 | HCN4 | c.2154C>T (p.Asn718=) c.936C>T (p.Asn312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323939G>C | CA393089625 | HCN4 | c.2154C>G (p.Asn718Lys) c.936C>G (p.Asn312Lys) | |
| 15 | g.73323939G= | CA2187188848 | HCN4 | c.2154C= (p.Asn718=) c.936C= (p.Asn312=) | |
| 15 | g.73323939G>T | CA393089626 | HCN4 | c.2154C>A (p.Asn718Lys) c.936C>A (p.Asn312Lys) | gnomAD v4 |
| 15 | g.73323939_73323942delinsGTTC | CA2187188847 | HCN4 | c.2151_2154delinsGAAC (p.Lys717=) c.933_936delinsGAAC (p.Lys311=) | |
| 15 | g.73323940T>A | CA393089628 | HCN4 | c.2153A>T (p.Asn718Ile) c.935A>T (p.Asn312Ile) | |
| 15 | g.73323940T>C | CA393089630 | HCN4 | c.2153A>G (p.Asn718Ser) c.935A>G (p.Asn312Ser) | COSMIC |
| 15 | g.73323940T>G | CA393089631 | HCN4 | c.2153A>C (p.Asn718Thr) c.935A>C (p.Asn312Thr) | |
| 15 | g.73323945_73323947del | CA619410612 | HCN4 | c.2151_2153del (p.Lys717del) c.933_935del (p.Lys311del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323941T>A | CA393089633 | HCN4 | c.2152A>T (p.Asn718Tyr) c.934A>T (p.Asn312Tyr) | |
| 15 | g.73323941T>C | CA393089635 | HCN4 | c.2152A>G (p.Asn718Asp) c.934A>G (p.Asn312Asp) | |
| 15 | g.73323941T>G | CA393089636 | HCN4 | c.2152A>C (p.Asn718His) c.934A>C (p.Asn312His) | |
| 15 | g.73323942C>A | CA393089639 | HCN4 | c.2151G>T (p.Lys717Asn) c.933G>T (p.Lys311Asn) | |
| 15 | g.73323942C= | CA2187188851 | HCN4 | c.2151G= (p.Lys717=) c.933G= (p.Lys311=) | |
| 15 | g.73323942C>G | CA393089642 | HCN4 | c.2151G>C (p.Lys717Asn) c.933G>C (p.Lys311Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323942C>T | CA491478796 | HCN4 | c.2151G>A (p.Lys717=) c.933G>A (p.Lys311=) | |
| 15 | g.73323943T>A | CA393089644 | HCN4 | c.2150A>T (p.Lys717Met) c.932A>T (p.Lys311Met) | |
| 15 | g.73323943T>C | CA393089648 | HCN4 | c.2150A>G (p.Lys717Arg) c.932A>G (p.Lys311Arg) | |
| 15 | g.73323943T>G | CA393089646 | HCN4 | c.2150A>C (p.Lys717Thr) c.932A>C (p.Lys311Thr) | |
| 15 | g.73323944T>A | CA393089651 | HCN4 | c.2149A>T (p.Lys717Ter) c.931A>T (p.Lys311Ter) | |
| 15 | g.73323944T>C | CA393089654 | HCN4 | c.2149A>G (p.Lys717Glu) c.931A>G (p.Lys311Glu) | |
| 15 | g.73323944T>G | CA393089656 | HCN4 | c.2149A>C (p.Lys717Gln) c.931A>C (p.Lys311Gln) | |
| 15 | g.73323945C>A | CA393089658 | HCN4 | c.2148G>T (p.Lys716Asn) c.930G>T (p.Lys310Asn) | |
| 15 | g.73323945C= | CA2187188853 | HCN4 | c.2148G= (p.Lys716=) c.930G= (p.Lys310=) | |
| 15 | g.73323945C>G | CA393089661 | HCN4 | c.2148G>C (p.Lys716Asn) c.930G>C (p.Lys310Asn) | |
| 15 | g.73323945C>T | CA7649086 | HCN4 | c.2148G>A (p.Lys716=) c.930G>A (p.Lys310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323946T>A | CA393089667 | HCN4 | c.2147A>T (p.Lys716Met) c.929A>T (p.Lys310Met) | |
| 15 | g.73323946T>C | CA393089669 | HCN4 | c.2147A>G (p.Lys716Arg) c.929A>G (p.Lys310Arg) | ClinVar |
| 15 | g.73323946T>G | CA393089671 | HCN4 | c.2147A>C (p.Lys716Thr) c.929A>C (p.Lys310Thr) | |
| 15 | g.73323947T>A | CA393089675 | HCN4 | c.2146A>T (p.Lys716Ter) c.928A>T (p.Lys310Ter) | |
| 15 | g.73323947T>C | CA393089676 | HCN4 | c.2146A>G (p.Lys716Glu) c.928A>G (p.Lys310Glu) | |
| 15 | g.73323947T>G | CA393089673 | HCN4 | c.2146A>C (p.Lys716Gln) c.928A>C (p.Lys310Gln) | |
| 15 | g.73323948G>A | CA491478806 | HCN4 | c.2145C>T (p.Gly715=) c.927C>T (p.Gly309=) | ClinVar dbSNP |
| 15 | g.73323948G>C | CA491478807 | HCN4 | c.2145C>G (p.Gly715=) c.927C>G (p.Gly309=) | |
| 15 | g.73323948G>T | CA491478808 | HCN4 | c.2145C>A (p.Gly715=) c.927C>A (p.Gly309=) | |
| 15 | g.73323949C>A | CA393089678 | HCN4 | c.2144G>T (p.Gly715Val) c.926G>T (p.Gly309Val) | |
| 15 | g.73323949C= | CA2187188857 | HCN4 | c.2144G= (p.Gly715=) c.926G= (p.Gly309=) | |
| 15 | g.73323949C>G | CA393089679 | HCN4 | c.2144G>C (p.Gly715Ala) c.926G>C (p.Gly309Ala) | |
| 15 | g.73323949C>T | CA393089689 | HCN4 | c.2144G>A (p.Gly715Asp) c.926G>A (p.Gly309Asp) | dbSNP gnomAD v2 |
| 15 | g.73323950C>A | CA393089692 | HCN4 | c.2144-1G>T (n.2144-1G>T) c.926-1G>T (n.926-1G>T) | |
| 15 | g.73323950C>G | CA393089694 | HCN4 | c.2144-1G>C (n.2144-1G>C) c.926-1G>C (n.926-1G>C) | |
| 15 | g.73323950C>T | CA393089697 | HCN4 | c.2144-1G>A (n.2144-1G>A) c.926-1G>A (n.926-1G>A) | |
| 15 | g.73323951T>A | CA393089701 | HCN4 | c.2144-2A>T (n.2144-2A>T) c.926-2A>T (n.926-2A>T) | |
| 15 | g.73323951T>C | CA393089703 | HCN4 | c.2144-2A>G (n.2144-2A>G) c.926-2A>G (n.926-2A>G) | ClinVar |
| 15 | g.73323951T>G | CA393089707 | HCN4 | c.2144-2A>C (n.2144-2A>C) c.926-2A>C (n.926-2A>C) | |
| 15 | g.73323952G>A | CA619410613 | HCN4 | c.2144-3C>T (n.2144-3C>T) c.926-3C>T (n.926-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323952G= | CA2187188859 | HCN4 | c.2144-3C= (n.2144-3C=) c.926-3C= (n.926-3C=) | |
| 15 | g.73323953G>C | CA2187188862 | HCN4 | c.2144-4C>G (n.2144-4C>G) c.926-4C>G (n.926-4C>G) | dbSNP |
| 15 | g.73323953G= | CA2187188861 | HCN4 | c.2144-4C= (n.2144-4C=) c.926-4C= (n.926-4C=) | |
| 15 | g.73323953G>T | CA2804714158 | HCN4 | c.2144-4C>A (n.2144-4C>A) c.926-4C>A (n.926-4C>A) | |
| 15 | g.73323954G>A | CA2629370905 | HCN4 | c.2144-5C>T (n.2144-5C>T) c.926-5C>T (n.926-5C>T) | dbSNP gnomAD v4 |
| 15 | g.73323955C>T | CA2629370906 | HCN4 | c.2144-6G>A (n.2144-6G>A) c.926-6G>A (n.926-6G>A) | ClinVar gnomAD v4 |
| 15 | g.73323958C>T | CA2575783837 | HCN4 | c.2144-9G>A (n.2144-9G>A) c.926-9G>A (n.926-9G>A) | |
| 15 | g.73323960G>C | CA2575783838 | HCN4 | c.2144-11C>G (n.2144-11C>G) c.926-11C>G (n.926-11C>G) | gnomAD v4 |
| 15 | g.73323961A>T | CA2575783839 | HCN4 | c.2144-12T>A (n.2144-12T>A) c.926-12T>A (n.926-12T>A) | |
| 15 | g.73323962A>T | CA2804714159 | HCN4 | c.2144-13T>A (n.2144-13T>A) c.926-13T>A (n.926-13T>A) | |
| 15 | g.73323963C>A | CA2575783840 | HCN4 | c.2144-14G>T (n.2144-14G>T) c.926-14G>T (n.926-14G>T) | |
| 15 | g.73323966_73323968del | CA2697549180 | HCN4 | c.2144-17_2144-15del (n.2144-17_2144-15del) c.926-17_926-15del (n.926-17_926-15del) | ClinVar |
| 15 | g.73323965A= | CA2187188863 | HCN4 | c.2144-16T= (n.2144-16T=) c.926-16T= (n.926-16T=) | |
| 15 | g.73323965A>C | CA2697549181 | HCN4 | c.2144-16T>G (n.2144-16T>G) c.926-16T>G (n.926-16T>G) | ClinVar |
| 15 | g.73323965A>T | CA7649087 | HCN4 | c.2144-16T>A (n.2144-16T>A) c.926-16T>A (n.926-16T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323966G>A | CA619410614 | HCN4 | c.2144-17C>T (n.2144-17C>T) c.926-17C>T (n.926-17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323966G= | CA2187188865 | HCN4 | c.2144-17C= (n.2144-17C=) c.926-17C= (n.926-17C=) | |
| 15 | g.73323966G>T | CA2629370907 | HCN4 | c.2144-17C>A (n.2144-17C>A) c.926-17C>A (n.926-17C>A) | gnomAD v4 |
| 15 | g.73323970A= | CA2187188866 | HCN4 | c.2144-21T= (n.2144-21T=) c.926-21T= (n.926-21T=) | |
| 15 | g.73323970A>G | CA2187188867 | HCN4 | c.2144-21T>C (n.2144-21T>C) c.926-21T>C (n.926-21T>C) | dbSNP |
| 15 | g.73323971G>A | CA7649088 | HCN4 | c.2144-22C>T (n.2144-22C>T) c.926-22C>T (n.926-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323971G= | CA2187188869 | HCN4 | c.2144-22C= (n.2144-22C=) c.926-22C= (n.926-22C=) | |
| 15 | g.73323973C>A | CA7649089 | HCN4 | c.2144-24G>T (n.2144-24G>T) c.926-24G>T (n.926-24G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323973C= | CA2187188872 | HCN4 | c.2144-24G= (n.2144-24G=) c.926-24G= (n.926-24G=) | |
| 15 | g.73323973C>T | CA2730916712 | HCN4 | c.2144-24G>A (n.2144-24G>A) c.926-24G>A (n.926-24G>A) | dbSNP |
| 15 | g.73323977C>T | CA2629370908 | HCN4 | c.2144-28G>A (n.2144-28G>A) c.926-28G>A (n.926-28G>A) | gnomAD v4 |
| 15 | g.73323977_73323979delinsCAG | CA2187188874 | HCN4 | c.2144-30_2144-28delinsCTG (n.2144-30_2144-28delinsCTG) c.926-30_926-28delinsCTG (n.926-30_926-28delinsCTG) | |
| 15 | g.73323978_73323979del | CA715546866 | HCN4 | c.2144-30_2144-29del (n.2144-30_2144-29del) c.926-30_926-29del (n.926-30_926-29del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323979G>A | CA619410615 | HCN4 | c.2144-30C>T (n.2144-30C>T) c.926-30C>T (n.926-30C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323979G>C | CA7649090 | HCN4 | c.2144-30C>G (n.2144-30C>G) c.926-30C>G (n.926-30C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323979G= | CA2187188877 | HCN4 | c.2144-30C= (n.2144-30C=) c.926-30C= (n.926-30C=) | |
| 15 | g.73323980G>A | CA2629370909 | HCN4 | c.2144-31C>T (n.2144-31C>T) c.926-31C>T (n.926-31C>T) | gnomAD v4 |
| 15 | g.73323980G>C | CA2629370910 | HCN4 | c.2144-31C>G (n.2144-31C>G) c.926-31C>G (n.926-31C>G) | gnomAD v4 |
| 15 | g.73323981G>A | CA7649091 | HCN4 | c.2144-32C>T (n.2144-32C>T) c.926-32C>T (n.926-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323981G>C | CA7649092 | HCN4 | c.2144-32C>G (n.2144-32C>G) c.926-32C>G (n.926-32C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323981G= | CA2187188878 | HCN4 | c.2144-32C= (n.2144-32C=) c.926-32C= (n.926-32C=) | |
| 15 | g.73323981G>T | CA2629370911 | HCN4 | c.2144-32C>A (n.2144-32C>A) c.926-32C>A (n.926-32C>A) | gnomAD v4 |
| 15 | g.73323982C>A | CA2629370912 | HCN4 | c.2144-33G>T (n.2144-33G>T) c.926-33G>T (n.926-33G>T) | gnomAD v4 |
| 15 | g.73323982C= | CA2187188879 | HCN4 | c.2144-33G= (n.2144-33G=) c.926-33G= (n.926-33G=) | |
| 15 | g.73323982C>T | CA7649093 | HCN4 | c.2144-33G>A (n.2144-33G>A) c.926-33G>A (n.926-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323983A= | CA2187188880 | HCN4 | c.2144-34T= (n.2144-34T=) c.926-34T= (n.926-34T=) | |
| 15 | g.73323983A>G | CA7649094 | HCN4 | c.2144-34T>C (n.2144-34T>C) c.926-34T>C (n.926-34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323983_73323990delinsAGAGCGGG | CA2187188881 | HCN4 | c.2144-41_2144-34delinsCCCGCTCT (n.2144-41_2144-34delinsCCCGCTCT) c.926-41_926-34delinsCCCGCTCT (n.926-41_926-34delinsCCCGCTCT) | |
| 15 | g.73323986_73323992del | CA2187188882 | HCN4 | c.2144-41_2144-35del (n.2144-41_2144-35del) c.926-41_926-35del (n.926-41_926-35del) | dbSNP |
| 15 | g.73323984_73323985insGGCTCCTTTATGCCTA | CA2804714160 | HCN4 | c.2144-36_2144-35insTAGGCATAAAGGAGCC (n.2144-36_2144-35insTAGGCATAAAGGAGCC) c.926-36_926-35insTAGGCATAAAGGAGCC (n.926-36_926-35insTAGGCATAAAGGAGCC) | |
| 15 | g.73323986G>A | CA2575783841 | HCN4 | c.2144-37C>T (n.2144-37C>T) c.926-37C>T (n.926-37C>T) | gnomAD v4 |
| 15 | g.73323986G= | CA2187188883 | HCN4 | c.2144-37C= (n.2144-37C=) c.926-37C= (n.926-37C=) | |
| 15 | g.73323986G>T | CA7649095 | HCN4 | c.2144-37C>A (n.2144-37C>A) c.926-37C>A (n.926-37C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323987C>A | CA7649097 | HCN4 | c.2144-38G>T (n.2144-38G>T) c.926-38G>T (n.926-38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323987C= | CA2187188884 | HCN4 | c.2144-38G= (n.2144-38G=) c.926-38G= (n.926-38G=) | |
| 15 | g.73323987C>G | CA2543644514 | HCN4 | c.2144-38G>C (n.2144-38G>C) c.926-38G>C (n.926-38G>C) | |
| 15 | g.73323987C>T | CA7649096 | HCN4 | c.2144-38G>A (n.2144-38G>A) c.926-38G>A (n.926-38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323987_73323988delinsCG | CA2187188885 | HCN4 | c.2144-39_2144-38delinsCG (n.2144-39_2144-38delinsCG) c.926-39_926-38delinsCG (n.926-39_926-38delinsCG) | |
| 15 | g.73323988G>A | CA7649098 | HCN4 | c.2144-39C>T (n.2144-39C>T) c.926-39C>T (n.926-39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.73323988G>C | CA2629370915 | HCN4 | c.2144-39C>G (n.2144-39C>G) c.926-39C>G (n.926-39C>G) | gnomAD v4 |
| 15 | g.73323988G= | CA2187188886 | HCN4 | c.2144-39C= (n.2144-39C=) c.926-39C= (n.926-39C=) | |
| 15 | g.73323991dup | CA2629370913 | HCN4 | c.2144-39dup (n.2144-39dup) c.926-39dup (n.926-39dup) | gnomAD v4 |
| 15 | g.73323991del | CA715546881 | HCN4 | c.2144-39del (n.2144-39del) c.926-39del (n.926-39del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323989_73323991del | CA2629370914 | HCN4 | c.2144-41_2144-39del (n.2144-41_2144-39del) c.926-41_926-39del (n.926-41_926-39del) | gnomAD v4 |
| 15 | g.73323989G>A | CA7649099 | HCN4 | c.2144-40C>T (n.2144-40C>T) c.926-40C>T (n.926-40C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.73323989G= | CA2187188887 | HCN4 | c.2144-40C= (n.2144-40C=) c.926-40C= (n.926-40C=) | |
| 15 | g.73323990G>A | CA2629370916 | HCN4 | c.2144-41C>T (n.2144-41C>T) c.926-41C>T (n.926-41C>T) | gnomAD v4 |
| 15 | g.73323991G>A | CA715546889 | HCN4 | c.2144-42C>T (n.2144-42C>T) c.926-42C>T (n.926-42C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.73323991G>C | CA656217060 | HCN4 | c.2144-42C>G (n.2144-42C>G) c.926-42C>G (n.926-42C>G) | gnomAD v4 COSMIC COSMIC |
| 15 | g.73323991G= | CA2187188888 | HCN4 | c.2144-42C= (n.2144-42C=) c.926-42C= (n.926-42C=) | |
| 15 | g.73323991G>T | CA619410616 | HCN4 | c.2144-42C>A (n.2144-42C>A) c.926-42C>A (n.926-42C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.73323995_73323997del | CA2629370917 | HCN4 | c.2144-46_2144-44del (n.2144-46_2144-44del) c.926-46_926-44del (n.926-46_926-44del) | gnomAD v4 |
| 15 | g.73323994G>A | CA2575783842 | HCN4 | c.2144-45C>T (n.2144-45C>T) c.926-45C>T (n.926-45C>T) | |
| 15 | g.73323996A= | CA2187188889 | HCN4 | c.2144-47T= (n.2144-47T=) c.926-47T= (n.926-47T=) | |
| 15 | g.73323996A>C | CA2502421781 | HCN4 | c.2144-47T>G (n.2144-47T>G) c.926-47T>G (n.926-47T>G) | |
| 15 | g.73323996A>T | CA715546898 | HCN4 | c.2144-47T>A (n.2144-47T>A) c.926-47T>A (n.926-47T>A) | dbSNP |