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 |
|---|---|---|---|---|---|
| 3 | g.143724283T>A | CA85303906 | SLC9A9 | c.534-30976A>T (n.534-30976A>T) c.*145-30976A>T (n.*145-30976A>T) c.183-30976A>T (n.183-30976A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724283T= | CA1407538440 | SLC9A9 | c.534-30976A= (n.534-30976A=) c.*145-30976A= (n.*145-30976A=) c.183-30976A= (n.183-30976A=) | |
| 3 | g.143724285A= | CA1407538442 | SLC9A9 | c.534-30978T= (n.534-30978T=) c.*145-30978T= (n.*145-30978T=) c.183-30978T= (n.183-30978T=) | |
| 3 | g.143724285A>T | CA900041061 | SLC9A9 | c.534-30978T>A (n.534-30978T>A) c.*145-30978T>A (n.*145-30978T>A) c.183-30978T>A (n.183-30978T>A) | dbSNP |
| 3 | g.143724287G>A | CA900041066 | SLC9A9 | c.534-30980C>T (n.534-30980C>T) c.*145-30980C>T (n.*145-30980C>T) c.183-30980C>T (n.183-30980C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724287G= | CA1407538443 | SLC9A9 | c.534-30980C= (n.534-30980C=) c.*145-30980C= (n.*145-30980C=) c.183-30980C= (n.183-30980C=) | |
| 3 | g.143724291T>G | CA11575653 | SLC9A9 | c.534-30984A>C (n.534-30984A>C) c.*145-30984A>C (n.*145-30984A>C) c.183-30984A>C (n.183-30984A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724291T= | CA1407538445 | SLC9A9 | c.534-30984A= (n.534-30984A=) c.*145-30984A= (n.*145-30984A=) c.183-30984A= (n.183-30984A=) | |
| 3 | g.143724291_143724292insAC | CA1054423700 | SLC9A9 | c.534-30985_534-30984insGT (n.534-30985_534-30984insGT) c.*145-30985_*145-30984insGT (n.*145-30985_*145-30984insGT) c.183-30985_183-30984insGT (n.183-30985_183-30984insGT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724291_143724292insACTAGAGCAA | CA1054423701 | SLC9A9 | c.534-30985_534-30984insTTGCTCTAGT (n.534-30985_534-30984insTTGCTCTAGT) c.*145-30985_*145-30984insTTGCTCTAGT (n.*145-30985_*145-30984insTTGCTCTAGT) c.183-30985_183-30984insTTGCTCTAGT (n.183-30985_183-30984insTTGCTCTAGT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACA | CA546827022 | SLC9A9 | c.534-30985_534-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insTGTTATATGTGAGGGGTGATTGCTCTAGT) | gnomAD v2 |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTG | CA1054423697 | SLC9A9 | c.534-30985_534-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insCACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGG | CA1054423699 | SLC9A9 | c.534-30985_534-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insCCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) | dbSNP |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAA | CA1054423689 | SLC9A9 | c.534-30985_534-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insTTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724291_143724292insACTAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCC | CA1054423686 | SLC9A9 | c.534-30985_534-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.534-30985_534-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.*145-30985_*145-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.*145-30985_*145-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) c.183-30985_183-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT (n.183-30985_183-30984insGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCTAGT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724292T>A | CA1054423682 | SLC9A9 | c.534-30985A>T (n.534-30985A>T) c.*145-30985A>T (n.*145-30985A>T) c.183-30985A>T (n.183-30985A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724292T= | CA1407538451 | SLC9A9 | c.534-30985A= (n.534-30985A=) c.*145-30985A= (n.*145-30985A=) c.183-30985A= (n.183-30985A=) | |
| 3 | g.143724292_143724293insAGAGCAATCACCC | CA1054423705 | SLC9A9 | c.534-30986_534-30985insGGGTGATTGCTCT (n.534-30986_534-30985insGGGTGATTGCTCT) c.*145-30986_*145-30985insGGGTGATTGCTCT (n.*145-30986_*145-30985insGGGTGATTGCTCT) c.183-30986_183-30985insGGGTGATTGCTCT (n.183-30986_183-30985insGGGTGATTGCTCT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724293C>A | CA85303907 | SLC9A9 | c.534-30986G>T (n.534-30986G>T) c.*145-30986G>T (n.*145-30986G>T) c.183-30986G>T (n.183-30986G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724293C= | CA1407538456 | SLC9A9 | c.534-30986G= (n.534-30986G=) c.*145-30986G= (n.*145-30986G=) c.183-30986G= (n.183-30986G=) | |
| 3 | g.143724293_143724294insACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTT | CA1054423707 | SLC9A9 | c.534-30987_534-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT (n.534-30987_534-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT) c.*145-30987_*145-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT (n.*145-30987_*145-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT) c.183-30987_183-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT (n.183-30987_183-30986insAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724294T>C | CA1407538460 | SLC9A9 | c.534-30987A>G (n.534-30987A>G) c.*145-30987A>G (n.*145-30987A>G) c.183-30987A>G (n.183-30987A>G) | dbSNP |
| 3 | g.143724294T= | CA1407538459 | SLC9A9 | c.534-30987A= (n.534-30987A=) c.*145-30987A= (n.*145-30987A=) c.183-30987A= (n.183-30987A=) | |
| 3 | g.143724294_143724295insAGAGCAATCACCC | CA1054423712 | SLC9A9 | c.534-30988_534-30987insGGGTGATTGCTCT (n.534-30988_534-30987insGGGTGATTGCTCT) c.*145-30988_*145-30987insGGGTGATTGCTCT (n.*145-30988_*145-30987insGGGTGATTGCTCT) c.183-30988_183-30987insGGGTGATTGCTCT (n.183-30988_183-30987insGGGTGATTGCTCT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724294_143724295insAGAGCAATCACCCCTCACATATAA | CA1054423713 | SLC9A9 | c.534-30988_534-30987insTTATATGTGAGGGGTGATTGCTCT (n.534-30988_534-30987insTTATATGTGAGGGGTGATTGCTCT) c.*145-30988_*145-30987insTTATATGTGAGGGGTGATTGCTCT (n.*145-30988_*145-30987insTTATATGTGAGGGGTGATTGCTCT) c.183-30988_183-30987insTTATATGTGAGGGGTGATTGCTCT (n.183-30988_183-30987insTTATATGTGAGGGGTGATTGCTCT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724294_143724295insAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCATGATA | CA2519941707 | SLC9A9 | c.534-30988_534-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.534-30988_534-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.*145-30988_*145-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.*145-30988_*145-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.183-30988_183-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.183-30988_183-30987insTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724294_143724295insAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCATGATACAGCCATGAAAACCAGGA | CA1054423718 | SLC9A9 | c.534-30988_534-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.534-30988_534-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.*145-30988_*145-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.*145-30988_*145-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.183-30988_183-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.183-30988_183-30987insTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724294_143724295insAGAGCAATCACCCCTCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCATGATACAGCCATGAAAACCAGGACA | CA1054423721 | SLC9A9 | c.534-30988_534-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.534-30988_534-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.*145-30988_*145-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.*145-30988_*145-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) c.183-30988_183-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT (n.183-30988_183-30987insTGTCCTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTGAGGGGTGATTGCTCT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724295C= | CA1407538463 | SLC9A9 | c.534-30988G= (n.534-30988G=) c.*145-30988G= (n.*145-30988G=) c.183-30988G= (n.183-30988G=) | |
| 3 | g.143724295C>T | CA546827025 | SLC9A9 | c.534-30988G>A (n.534-30988G>A) c.*145-30988G>A (n.*145-30988G>A) c.183-30988G>A (n.183-30988G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724295_143724296insACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCA | CA1054423727 | SLC9A9 | c.534-30989_534-30988insTGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGT (n.534-30989_534-30988insTGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGT) c.*145-30989_*145-30988insTGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGT (n.*145-30989_*145-30988insTGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGT) c.183-30989_183-30988insTGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGT (n.183-30989_183-30988insTGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGT) | gnomAD v3 gnomAD v4 |
| 3 | g.143724296_143724297insCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCATGATACA | CA1054423732 | SLC9A9 | c.534-30990_534-30989insTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG (n.534-30990_534-30989insTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG) c.*145-30990_*145-30989insTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG (n.*145-30990_*145-30989insTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG) c.183-30990_183-30989insTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG (n.183-30990_183-30989insTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG) | gnomAD v3 gnomAD v4 |
| 3 | g.143724296_143724297insCACATATAACATCAAAGGTAGGATGCCAGGAGAGCCTTTCAGTGTCAGGTGGCTCAAAATCCTCATGATACAGCCATGAAAACCA | CA1054423733 | SLC9A9 | c.534-30990_534-30989insTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG (n.534-30990_534-30989insTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG) c.*145-30990_*145-30989insTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG (n.*145-30990_*145-30989insTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG) c.183-30990_183-30989insTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG (n.183-30990_183-30989insTGGTTTTCATGGCTGTATCATGAGGATTTTGAGCCACCTGACACTGAAAGGCTCTCCTGGCATCCTACCTTTGATGTTATATGTG) | gnomAD v3 gnomAD v4 |
| 3 | g.143724297_143724298delinsGC | CA1407538466 | SLC9A9 | c.534-30991_534-30990delinsGC (n.534-30991_534-30990delinsGC) c.*145-30991_*145-30990delinsGC (n.*145-30991_*145-30990delinsGC) c.183-30991_183-30990delinsGC (n.183-30991_183-30990delinsGC) | |
| 3 | g.143724298del | CA900041087 | SLC9A9 | c.534-30991del (n.534-30991del) c.*145-30991del (n.*145-30991del) c.183-30991del (n.183-30991del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724301C= | CA1407538471 | SLC9A9 | c.534-30994G= (n.534-30994G=) c.*145-30994G= (n.*145-30994G=) c.183-30994G= (n.183-30994G=) | |
| 3 | g.143724301C>G | CA546827028 | SLC9A9 | c.534-30994G>C (n.534-30994G>C) c.*145-30994G>C (n.*145-30994G>C) c.183-30994G>C (n.183-30994G>C) | dbSNP gnomAD v2 |
| 3 | g.143724301C>T | CA900041093 | SLC9A9 | c.534-30994G>A (n.534-30994G>A) c.*145-30994G>A (n.*145-30994G>A) c.183-30994G>A (n.183-30994G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724302C= | CA1407538474 | SLC9A9 | c.534-30995G= (n.534-30995G=) c.*145-30995G= (n.*145-30995G=) c.183-30995G= (n.183-30995G=) | |
| 3 | g.143724302C>T | CA1407538475 | SLC9A9 | c.534-30995G>A (n.534-30995G>A) c.*145-30995G>A (n.*145-30995G>A) c.183-30995G>A (n.183-30995G>A) | dbSNP |
| 3 | g.143724303C= | CA1407538479 | SLC9A9 | c.534-30996G= (n.534-30996G=) c.*145-30996G= (n.*145-30996G=) c.183-30996G= (n.183-30996G=) | |
| 3 | g.143724303C>T | CA85303908 | SLC9A9 | c.534-30996G>A (n.534-30996G>A) c.*145-30996G>A (n.*145-30996G>A) c.183-30996G>A (n.183-30996G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724304C= | CA1407538481 | SLC9A9 | c.534-30997G= (n.534-30997G=) c.*145-30997G= (n.*145-30997G=) c.183-30997G= (n.183-30997G=) | |
| 3 | g.143724304C>G | CA900041107 | SLC9A9 | c.534-30997G>C (n.534-30997G>C) c.*145-30997G>C (n.*145-30997G>C) c.183-30997G>C (n.183-30997G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724304C>T | CA85303909 | SLC9A9 | c.534-30997G>A (n.534-30997G>A) c.*145-30997G>A (n.*145-30997G>A) c.183-30997G>A (n.183-30997G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724308G>A | CA900041109 | SLC9A9 | c.534-31001C>T (n.534-31001C>T) c.*145-31001C>T (n.*145-31001C>T) c.183-31001C>T (n.183-31001C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724308G= | CA1407538485 | SLC9A9 | c.534-31001C= (n.534-31001C=) c.*145-31001C= (n.*145-31001C=) c.183-31001C= (n.183-31001C=) | |
| 3 | g.143724309C>A | CA1407538487 | SLC9A9 | c.534-31002G>T (n.534-31002G>T) c.*145-31002G>T (n.*145-31002G>T) c.183-31002G>T (n.183-31002G>T) | dbSNP |
| 3 | g.143724309C= | CA1407538486 | SLC9A9 | c.534-31002G= (n.534-31002G=) c.*145-31002G= (n.*145-31002G=) c.183-31002G= (n.183-31002G=) | |
| 3 | g.143724309C>T | CA85303910 | SLC9A9 | c.534-31002G>A (n.534-31002G>A) c.*145-31002G>A (n.*145-31002G>A) c.183-31002G>A (n.183-31002G>A) | dbSNP |
| 3 | g.143724315A= | CA1407538489 | SLC9A9 | c.534-31008T= (n.534-31008T=) c.*145-31008T= (n.*145-31008T=) c.183-31008T= (n.183-31008T=) | |
| 3 | g.143724315A>G | CA546827030 | SLC9A9 | c.534-31008T>C (n.534-31008T>C) c.*145-31008T>C (n.*145-31008T>C) c.183-31008T>C (n.183-31008T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724317C= | CA1407538494 | SLC9A9 | c.534-31010G= (n.534-31010G=) c.*145-31010G= (n.*145-31010G=) c.183-31010G= (n.183-31010G=) | |
| 3 | g.143724317C>T | CA900041118 | SLC9A9 | c.534-31010G>A (n.534-31010G>A) c.*145-31010G>A (n.*145-31010G>A) c.183-31010G>A (n.183-31010G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724321A= | CA1407538496 | SLC9A9 | c.534-31014T= (n.534-31014T=) c.*145-31014T= (n.*145-31014T=) c.183-31014T= (n.183-31014T=) | |
| 3 | g.143724321A>G | CA900041121 | SLC9A9 | c.534-31014T>C (n.534-31014T>C) c.*145-31014T>C (n.*145-31014T>C) c.183-31014T>C (n.183-31014T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724321A>T | CA1407538497 | SLC9A9 | c.534-31014T>A (n.534-31014T>A) c.*145-31014T>A (n.*145-31014T>A) c.183-31014T>A (n.183-31014T>A) | dbSNP |
| 3 | g.143724323T>G | CA2740467351 | SLC9A9 | c.534-31016A>C (n.534-31016A>C) c.*145-31016A>C (n.*145-31016A>C) c.183-31016A>C (n.183-31016A>C) | |
| 3 | g.143724325T>C | CA1407538501 | SLC9A9 | c.534-31018A>G (n.534-31018A>G) c.*145-31018A>G (n.*145-31018A>G) c.183-31018A>G (n.183-31018A>G) | dbSNP |
| 3 | g.143724325T= | CA1407538499 | SLC9A9 | c.534-31018A= (n.534-31018A=) c.*145-31018A= (n.*145-31018A=) c.183-31018A= (n.183-31018A=) | |
| 3 | g.143724331T>A | CA546827031 | SLC9A9 | c.534-31024A>T (n.534-31024A>T) c.*145-31024A>T (n.*145-31024A>T) c.183-31024A>T (n.183-31024A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724331T= | CA1407538502 | SLC9A9 | c.534-31024A= (n.534-31024A=) c.*145-31024A= (n.*145-31024A=) c.183-31024A= (n.183-31024A=) | |
| 3 | g.143724337G= | CA1407538503 | SLC9A9 | c.534-31030C= (n.534-31030C=) c.*145-31030C= (n.*145-31030C=) c.183-31030C= (n.183-31030C=) | |
| 3 | g.143724337G>T | CA900041124 | SLC9A9 | c.534-31030C>A (n.534-31030C>A) c.*145-31030C>A (n.*145-31030C>A) c.183-31030C>A (n.183-31030C>A) | dbSNP |
| 3 | g.143724338A= | CA1407538505 | SLC9A9 | c.534-31031T= (n.534-31031T=) c.*145-31031T= (n.*145-31031T=) c.183-31031T= (n.183-31031T=) | |
| 3 | g.143724338A>T | CA85303911 | SLC9A9 | c.534-31031T>A (n.534-31031T>A) c.*145-31031T>A (n.*145-31031T>A) c.183-31031T>A (n.183-31031T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724339C>A | CA1407538510 | SLC9A9 | c.534-31032G>T (n.534-31032G>T) c.*145-31032G>T (n.*145-31032G>T) c.183-31032G>T (n.183-31032G>T) | dbSNP |
| 3 | g.143724339C= | CA1407538509 | SLC9A9 | c.534-31032G= (n.534-31032G=) c.*145-31032G= (n.*145-31032G=) c.183-31032G= (n.183-31032G=) | |
| 3 | g.143724340C>A | CA85303912 | SLC9A9 | c.534-31033G>T (n.534-31033G>T) c.*145-31033G>T (n.*145-31033G>T) c.183-31033G>T (n.183-31033G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724340C= | CA1407538511 | SLC9A9 | c.534-31033G= (n.534-31033G=) c.*145-31033G= (n.*145-31033G=) c.183-31033G= (n.183-31033G=) | |
| 3 | g.143724346G>A | CA85303913 | SLC9A9 | c.534-31039C>T (n.534-31039C>T) c.*145-31039C>T (n.*145-31039C>T) c.183-31039C>T (n.183-31039C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724346G= | CA1407538513 | SLC9A9 | c.534-31039C= (n.534-31039C=) c.*145-31039C= (n.*145-31039C=) c.183-31039C= (n.183-31039C=) | |
| 3 | g.143724348C= | CA1407538514 | SLC9A9 | c.534-31041G= (n.534-31041G=) c.*145-31041G= (n.*145-31041G=) c.183-31041G= (n.183-31041G=) | |
| 3 | g.143724348C>T | CA1407538515 | SLC9A9 | c.534-31041G>A (n.534-31041G>A) c.*145-31041G>A (n.*145-31041G>A) c.183-31041G>A (n.183-31041G>A) | dbSNP |
| 3 | g.143724350T>C | CA900041129 | SLC9A9 | c.534-31043A>G (n.534-31043A>G) c.*145-31043A>G (n.*145-31043A>G) c.183-31043A>G (n.183-31043A>G) | dbSNP |
| 3 | g.143724350T= | CA1407538516 | SLC9A9 | c.534-31043A= (n.534-31043A=) c.*145-31043A= (n.*145-31043A=) c.183-31043A= (n.183-31043A=) | |
| 3 | g.143724357T>A | CA648213351 | SLC9A9 | c.534-31050A>T (n.534-31050A>T) c.*145-31050A>T (n.*145-31050A>T) c.183-31050A>T (n.183-31050A>T) | COSMIC |
| 3 | g.143724358G>A | CA85303914 | SLC9A9 | c.534-31051C>T (n.534-31051C>T) c.*145-31051C>T (n.*145-31051C>T) c.183-31051C>T (n.183-31051C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724358G= | CA1407538518 | SLC9A9 | c.534-31051C= (n.534-31051C=) c.*145-31051C= (n.*145-31051C=) c.183-31051C= (n.183-31051C=) | |
| 3 | g.143724364C>A | CA2758731843 | SLC9A9 | c.534-31057G>T (n.534-31057G>T) c.*145-31057G>T (n.*145-31057G>T) c.183-31057G>T (n.183-31057G>T) | |
| 3 | g.143724364C= | CA1407538520 | SLC9A9 | c.534-31057G= (n.534-31057G=) c.*145-31057G= (n.*145-31057G=) c.183-31057G= (n.183-31057G=) | |
| 3 | g.143724364C>T | CA1054423753 | SLC9A9 | c.534-31057G>A (n.534-31057G>A) c.*145-31057G>A (n.*145-31057G>A) c.183-31057G>A (n.183-31057G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724365C>A | CA2544359061 | SLC9A9 | c.534-31058G>T (n.534-31058G>T) c.*145-31058G>T (n.*145-31058G>T) c.183-31058G>T (n.183-31058G>T) | |
| 3 | g.143724368C>A | CA546827042 | SLC9A9 | c.534-31061G>T (n.534-31061G>T) c.*145-31061G>T (n.*145-31061G>T) c.183-31061G>T (n.183-31061G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724368C= | CA1407538522 | SLC9A9 | c.534-31061G= (n.534-31061G=) c.*145-31061G= (n.*145-31061G=) c.183-31061G= (n.183-31061G=) | |
| 3 | g.143724368C>T | CA85303915 | SLC9A9 | c.534-31061G>A (n.534-31061G>A) c.*145-31061G>A (n.*145-31061G>A) c.183-31061G>A (n.183-31061G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.143724369G>A | CA85303916 | SLC9A9 | c.534-31062C>T (n.534-31062C>T) c.*145-31062C>T (n.*145-31062C>T) c.183-31062C>T (n.183-31062C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724369G= | CA1407538524 | SLC9A9 | c.534-31062C= (n.534-31062C=) c.*145-31062C= (n.*145-31062C=) c.183-31062C= (n.183-31062C=) | |
| 3 | g.143724369G>T | CA2605098721 | SLC9A9 | c.534-31062C>A (n.534-31062C>A) c.*145-31062C>A (n.*145-31062C>A) c.183-31062C>A (n.183-31062C>A) | gnomAD v3 gnomAD v4 |
| 3 | g.143724370G>A | CA2704325039 | SLC9A9 | c.534-31063C>T (n.534-31063C>T) c.*145-31063C>T (n.*145-31063C>T) c.183-31063C>T (n.183-31063C>T) | dbSNP |
| 3 | g.143724372A= | CA1407538527 | SLC9A9 | c.534-31065T= (n.534-31065T=) c.*145-31065T= (n.*145-31065T=) c.183-31065T= (n.183-31065T=) | |
| 3 | g.143724372A>G | CA900041137 | SLC9A9 | c.534-31065T>C (n.534-31065T>C) c.*145-31065T>C (n.*145-31065T>C) c.183-31065T>C (n.183-31065T>C) | dbSNP |
| 3 | g.143724377G>A | CA546827044 | SLC9A9 | c.534-31070C>T (n.534-31070C>T) c.*145-31070C>T (n.*145-31070C>T) c.183-31070C>T (n.183-31070C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.143724377G= | CA1407538530 | SLC9A9 | c.534-31070C= (n.534-31070C=) c.*145-31070C= (n.*145-31070C=) c.183-31070C= (n.183-31070C=) |