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 |
|---|---|---|---|---|---|
| Y | g.8707845C= | CA2470007430 | c.139+8813C= (n.139+8813C=) c.-57+40871G= (n.-57+40871G=) | ||
| Y | g.8707847_8707849dup | CA1138937615 | c.139+8815_139+8817dup (n.139+8815_139+8817dup) c.-57+40868_-57+40870dup (n.-57+40868_-57+40870dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707848G>A | CA1138937617 | c.139+8816G>A (n.139+8816G>A) c.-57+40868C>T (n.-57+40868C>T) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707848G= | CA2470007432 | c.139+8816G= (n.139+8816G=) c.-57+40868C= (n.-57+40868C=) | ||
| Y | g.8707873G>T | CA2824552546 | c.139+8841G>T (n.139+8841G>T) c.-57+40843C>A (n.-57+40843C>A) | ||
| Y | g.8707878T= | CA2470007433 | c.139+8846T= (n.139+8846T=) c.-57+40838A= (n.-57+40838A=) | ||
| Y | g.8707886_8707890dup | CA1138937629 | c.139+8854_139+8858dup (n.139+8854_139+8858dup) c.-57+40833_-57+40837dup (n.-57+40833_-57+40837dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707891C>T | CA2526182902 | c.139+8859C>T (n.139+8859C>T) c.-57+40825G>A (n.-57+40825G>A) | ||
| Y | g.8707896C= | CA2470007435 | c.139+8864C= (n.139+8864C=) c.-57+40820G= (n.-57+40820G=) | ||
| Y | g.8707896C>T | CA2470007436 | c.139+8864C>T (n.139+8864C>T) c.-57+40820G>A (n.-57+40820G>A) | dbSNP | |
| Y | g.8707899C>A | CA2607962877 | c.139+8867C>A (n.139+8867C>A) c.-57+40817G>T (n.-57+40817G>T) | gnomAD v4 | |
| Y | g.8707899C= | CA2470007437 | c.139+8867C= (n.139+8867C=) c.-57+40817G= (n.-57+40817G=) | ||
| Y | g.8707899C>T | CA2470007439 | c.139+8867C>T (n.139+8867C>T) c.-57+40817G>A (n.-57+40817G>A) | dbSNP | |
| Y | g.8707902T>C | CA1138937632 | c.139+8870T>C (n.139+8870T>C) c.-57+40814A>G (n.-57+40814A>G) | gnomAD v3 gnomAD v4 | |
| Y | g.8707903C>T | CA1138937642 | c.139+8871C>T (n.139+8871C>T) c.-57+40813G>A (n.-57+40813G>A) | gnomAD v3 gnomAD v4 | |
| Y | g.8707905A>T | CA2824552547 | c.139+8873A>T (n.139+8873A>T) c.-57+40811T>A (n.-57+40811T>A) | ||
| Y | g.8707906G>T | CA2824552548 | c.139+8874G>T (n.139+8874G>T) c.-57+40810C>A (n.-57+40810C>A) | ||
| Y | g.8707908A>T | CA2501920596 | c.139+8876A>T (n.139+8876A>T) c.-57+40808T>A (n.-57+40808T>A) | ||
| Y | g.8707911G>T | CA2824552549 | c.139+8879G>T (n.139+8879G>T) c.-57+40805C>A (n.-57+40805C>A) | ||
| Y | g.8707913G>T | CA2516584805 | c.139+8881G>T (n.139+8881G>T) c.-57+40803C>A (n.-57+40803C>A) | ||
| Y | g.8707914G>T | CA2824552551 | c.139+8882G>T (n.139+8882G>T) c.-57+40802C>A (n.-57+40802C>A) | ||
| Y | g.8707914_8707915del | CA2824552550 | c.139+8882_139+8883del (n.139+8882_139+8883del) c.-57+40801_-57+40802del (n.-57+40801_-57+40802del) | ||
| Y | g.8707914_8707915insT | CA2540984055 | c.139+8882_139+8883insT (n.139+8882_139+8883insT) c.-57+40801_-57+40802insA (n.-57+40801_-57+40802insA) | ||
| Y | g.8707914_8707915insTTT | CA2507961079 | c.139+8882_139+8883insTTT (n.139+8882_139+8883insTTT) c.-57+40801_-57+40802insAAA (n.-57+40801_-57+40802insAAA) | ||
| Y | g.8707914_8707915insTTTTTTTTT | CA1138937648 | c.139+8882_139+8883insTTTTTTTTT (n.139+8882_139+8883insTTTTTTTTT) c.-57+40801_-57+40802insAAAAAAAAA (n.-57+40801_-57+40802insAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707914_8707915insTTTTTTTTTT | CA1138937649 | c.139+8882_139+8883insTTTTTTTTTT (n.139+8882_139+8883insTTTTTTTTTT) c.-57+40801_-57+40802insAAAAAAAAAA (n.-57+40801_-57+40802insAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707914_8707915insTTTTTTTTTTT | CA2536545979 | c.139+8882_139+8883insTTTTTTTTTTT (n.139+8882_139+8883insTTTTTTTTTTT) c.-57+40801_-57+40802insAAAAAAAAAAA (n.-57+40801_-57+40802insAAAAAAAAAAA) | ||
| Y | g.8707914_8707915insGTTTTTTTTTTT | CA2824552553 | c.139+8882_139+8883insGTTTTTTTTTTT (n.139+8882_139+8883insGTTTTTTTTTTT) c.-57+40801_-57+40802insAAAAAAAAAAAC (n.-57+40801_-57+40802insAAAAAAAAAAAC) | ||
| Y | g.8707914_8707915insGTGTGTTTTTTTTTTTT | CA2571198738 | c.139+8882_139+8883insGTGTGTTTTTTTTTTTT (n.139+8882_139+8883insGTGTGTTTTTTTTTTTT) c.-57+40801_-57+40802insAAAAAAAAAAAACACAC (n.-57+40801_-57+40802insAAAAAAAAAAAACACAC) | ||
| Y | g.8707915A= | CA2470007440 | c.139+8883A= (n.139+8883A=) c.-57+40801T= (n.-57+40801T=) | ||
| Y | g.8707915A>T | CA1138937660 | c.139+8883A>T (n.139+8883A>T) c.-57+40801T>A (n.-57+40801T>A) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707915_8707916del | CA2824552552 | c.139+8883_139+8884del (n.139+8883_139+8884del) c.-57+40800_-57+40801del (n.-57+40800_-57+40801del) | ||
| Y | g.8707915_8707926delinsATTTTTTTTTTT | CA2470007441 | c.139+8883_139+8894delinsATTTTTTTTTTT (n.139+8883_139+8894delinsATTTTTTTTTTT) c.-57+40790_-57+40801delinsAAAAAAAAAAAT (n.-57+40790_-57+40801delinsAAAAAAAAAAAT) | ||
| Y | g.8707915_8707916insGTTTTTTTTTT | CA1138937896 | c.139+8883_139+8884insGTTTTTTTTTT (n.139+8883_139+8884insGTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAC (n.-57+40800_-57+40801insAAAAAAAAAAC) | gnomAD v3 gnomAD v4 | |
| Y | g.8707916T>A | CA337625450 | c.139+8884T>A (n.139+8884T>A) c.-57+40800A>T (n.-57+40800A>T) | dbSNP | |
| Y | g.8707916T>C | CA2551297712 | c.139+8884T>C (n.139+8884T>C) c.-57+40800A>G (n.-57+40800A>G) | ||
| Y | g.8707916T= | CA2470007447 | c.139+8884T= (n.139+8884T=) c.-57+40800A= (n.-57+40800A=) | ||
| Y | g.8707916_8707917insGTTTTTTTTTTTTT | CA2544189656 | c.139+8884_139+8885insGTTTTTTTTTTTTT (n.139+8884_139+8885insGTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAACA (n.-57+40800_-57+40801insAAAAAAAAAAAACA) | ||
| Y | g.8707919_8707920insGTTTTTTTTTTTTTTT | CA2500665764 | c.139+8887_139+8888insGTTTTTTTTTTTTTTT (n.139+8887_139+8888insGTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAACAAAA (n.-57+40800_-57+40801insAAAAAAAAAAACAAAA) | ||
| Y | g.8707920_8707921insCTTTTTTTTTTTTTTTT | CA2501011613 | c.139+8888_139+8889insCTTTTTTTTTTTTTTTT (n.139+8888_139+8889insCTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAGAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAGAAAAA) | ||
| Y | g.8707926_8707927insGTTTTTTTTTTTTTTTTTTTTTTT | CA2520482979 | c.139+8894_139+8895insGTTTTTTTTTTTTTTTTTTTTTTT (n.139+8894_139+8895insGTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAACAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAACAAAAAAAAAAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937724 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937727 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937729 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937741 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937746 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937750 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937751 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937756 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1138937765 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (n.-57+40800_-57+40801insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943dup | CA880388257 | c.139+8911dup (n.139+8911dup) c.-57+40800dup (n.-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707942_8707943dup | CA1138937904 | c.139+8910_139+8911dup (n.139+8910_139+8911dup) c.-57+40799_-57+40800dup (n.-57+40799_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707941_8707943dup | CA1138937912 | c.139+8909_139+8911dup (n.139+8909_139+8911dup) c.-57+40798_-57+40800dup (n.-57+40798_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707940_8707943dup | CA1138937917 | c.139+8908_139+8911dup (n.139+8908_139+8911dup) c.-57+40797_-57+40800dup (n.-57+40797_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707939_8707943dup | CA2524878545 | c.139+8907_139+8911dup (n.139+8907_139+8911dup) c.-57+40796_-57+40800dup (n.-57+40796_-57+40800dup) | ||
| Y | g.8707938_8707943dup | CA1138937923 | c.139+8906_139+8911dup (n.139+8906_139+8911dup) c.-57+40795_-57+40800dup (n.-57+40795_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707937_8707943dup | CA1138937929 | c.139+8905_139+8911dup (n.139+8905_139+8911dup) c.-57+40794_-57+40800dup (n.-57+40794_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707936_8707943dup | CA1138937933 | c.139+8904_139+8911dup (n.139+8904_139+8911dup) c.-57+40793_-57+40800dup (n.-57+40793_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707935_8707943dup | CA1138937956 | c.139+8903_139+8911dup (n.139+8903_139+8911dup) c.-57+40792_-57+40800dup (n.-57+40792_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707934_8707943dup | CA880388258 | c.139+8902_139+8911dup (n.139+8902_139+8911dup) c.-57+40791_-57+40800dup (n.-57+40791_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707933_8707943dup | CA880388259 | c.139+8901_139+8911dup (n.139+8901_139+8911dup) c.-57+40790_-57+40800dup (n.-57+40790_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707932_8707943dup | CA880388260 | c.139+8900_139+8911dup (n.139+8900_139+8911dup) c.-57+40789_-57+40800dup (n.-57+40789_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707931_8707943dup | CA1138937961 | c.139+8899_139+8911dup (n.139+8899_139+8911dup) c.-57+40788_-57+40800dup (n.-57+40788_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707930_8707943dup | CA1138938023 | c.139+8898_139+8911dup (n.139+8898_139+8911dup) c.-57+40787_-57+40800dup (n.-57+40787_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707929_8707943dup | CA880388261 | c.139+8897_139+8911dup (n.139+8897_139+8911dup) c.-57+40786_-57+40800dup (n.-57+40786_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707928_8707943dup | CA880388262 | c.139+8896_139+8911dup (n.139+8896_139+8911dup) c.-57+40785_-57+40800dup (n.-57+40785_-57+40800dup) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707927_8707943dup | CA1138938008 | c.139+8895_139+8911dup (n.139+8895_139+8911dup) c.-57+40784_-57+40800dup (n.-57+40784_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707926_8707943dup | CA1138938014 | c.139+8894_139+8911dup (n.139+8894_139+8911dup) c.-57+40783_-57+40800dup (n.-57+40783_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707925_8707943dup | CA1138938002 | c.139+8893_139+8911dup (n.139+8893_139+8911dup) c.-57+40782_-57+40800dup (n.-57+40782_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707924_8707943dup | CA1138937997 | c.139+8892_139+8911dup (n.139+8892_139+8911dup) c.-57+40781_-57+40800dup (n.-57+40781_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707923_8707943dup | CA1138937981 | c.139+8891_139+8911dup (n.139+8891_139+8911dup) c.-57+40780_-57+40800dup (n.-57+40780_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707922_8707943dup | CA1138937976 | c.139+8890_139+8911dup (n.139+8890_139+8911dup) c.-57+40779_-57+40800dup (n.-57+40779_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707921_8707943dup | CA1138937965 | c.139+8889_139+8911dup (n.139+8889_139+8911dup) c.-57+40778_-57+40800dup (n.-57+40778_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707920_8707943dup | CA1138937861 | c.139+8888_139+8911dup (n.139+8888_139+8911dup) c.-57+40777_-57+40800dup (n.-57+40777_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707919_8707943dup | CA1138937871 | c.139+8887_139+8911dup (n.139+8887_139+8911dup) c.-57+40776_-57+40800dup (n.-57+40776_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707918_8707943dup | CA1138937707 | c.139+8886_139+8911dup (n.139+8886_139+8911dup) c.-57+40775_-57+40800dup (n.-57+40775_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707917_8707943dup | CA1138937711 | c.139+8885_139+8911dup (n.139+8885_139+8911dup) c.-57+40774_-57+40800dup (n.-57+40774_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707916_8707943dup | CA2589281081 | c.139+8884_139+8911dup (n.139+8884_139+8911dup) c.-57+40773_-57+40800dup (n.-57+40773_-57+40800dup) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943del | CA1138937776 | c.139+8911del (n.139+8911del) c.-57+40800del (n.-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707942_8707943del | CA1138937777 | c.139+8910_139+8911del (n.139+8910_139+8911del) c.-57+40799_-57+40800del (n.-57+40799_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707941_8707943del | CA1138937798 | c.139+8909_139+8911del (n.139+8909_139+8911del) c.-57+40798_-57+40800del (n.-57+40798_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707940_8707943del | CA1138937806 | c.139+8908_139+8911del (n.139+8908_139+8911del) c.-57+40797_-57+40800del (n.-57+40797_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707939_8707943del | CA1138937809 | c.139+8907_139+8911del (n.139+8907_139+8911del) c.-57+40796_-57+40800del (n.-57+40796_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707938_8707943del | CA1138937814 | c.139+8906_139+8911del (n.139+8906_139+8911del) c.-57+40795_-57+40800del (n.-57+40795_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707936_8707943del | CA1138937821 | c.139+8904_139+8911del (n.139+8904_139+8911del) c.-57+40793_-57+40800del (n.-57+40793_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707935_8707943del | CA1138937827 | c.139+8903_139+8911del (n.139+8903_139+8911del) c.-57+40792_-57+40800del (n.-57+40792_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707934_8707943del | CA1138937835 | c.139+8902_139+8911del (n.139+8902_139+8911del) c.-57+40791_-57+40800del (n.-57+40791_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707933_8707943del | CA1138937846 | c.139+8901_139+8911del (n.139+8901_139+8911del) c.-57+40790_-57+40800del (n.-57+40790_-57+40800del) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707932_8707943del | CA1138937852 | c.139+8900_139+8911del (n.139+8900_139+8911del) c.-57+40789_-57+40800del (n.-57+40789_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707931_8707943del | CA1138937855 | c.139+8899_139+8911del (n.139+8899_139+8911del) c.-57+40788_-57+40800del (n.-57+40788_-57+40800del) | gnomAD v3 gnomAD v4 | |
| Y | g.8707920_8707921insAT | CA2824552554 | c.139+8888_139+8889insAT (n.139+8888_139+8889insAT) c.-57+40796_-57+40797insTA (n.-57+40796_-57+40797insTA) | ||
| Y | g.8707922T>A | CA2532234457 | c.139+8890T>A (n.139+8890T>A) c.-57+40794A>T (n.-57+40794A>T) | ||
| Y | g.8707924_8707925insGC | CA2546397765 | c.139+8892_139+8893insGC (n.139+8892_139+8893insGC) c.-57+40791_-57+40792insGC (n.-57+40791_-57+40792insGC) | ||
| Y | g.8707943_8707944insTTTTGT | CA2824552555 | c.139+8911_139+8912insTTTTGT (n.139+8911_139+8912insTTTTGT) c.-57+40773_-57+40774insCAAAAA (n.-57+40773_-57+40774insCAAAAA) | ||
| Y | g.8707943_8707944del | CA2824552556 | c.139+8911_139+8912del (n.139+8911_139+8912del) c.-57+40772_-57+40773del (n.-57+40772_-57+40773del) | ||
| Y | g.8707943_8707944insTGG | CA2824552557 | c.139+8911_139+8912insTGG (n.139+8911_139+8912insTGG) c.-57+40772_-57+40773insCCA (n.-57+40772_-57+40773insCCA) | ||
| Y | g.8707943_8707944insTTGA | CA2517928356 | c.139+8911_139+8912insTTGA (n.139+8911_139+8912insTTGA) c.-57+40772_-57+40773insTCAA (n.-57+40772_-57+40773insTCAA) | ||
| Y | g.8707943_8707944insTTTA | CA2548430824 | c.139+8911_139+8912insTTTA (n.139+8911_139+8912insTTTA) c.-57+40772_-57+40773insTAAA (n.-57+40772_-57+40773insTAAA) | ||
| Y | g.8707943_8707944insTTTTG | CA2516897223 | c.139+8911_139+8912insTTTTG (n.139+8911_139+8912insTTTTG) c.-57+40772_-57+40773insCAAAA (n.-57+40772_-57+40773insCAAAA) | ||
| Y | g.8707943_8707944insTTTCTA | CA2556524954 | c.139+8911_139+8912insTTTCTA (n.139+8911_139+8912insTTTCTA) c.-57+40772_-57+40773insTAGAAA (n.-57+40772_-57+40773insTAGAAA) | ||
| Y | g.8707943_8707944insTTTTTA | CA2525312529 | c.139+8911_139+8912insTTTTTA (n.139+8911_139+8912insTTTTTA) c.-57+40772_-57+40773insTAAAAA (n.-57+40772_-57+40773insTAAAAA) | ||
| Y | g.8707943_8707944insTTTTTG | CA2540369699 | c.139+8911_139+8912insTTTTTG (n.139+8911_139+8912insTTTTTG) c.-57+40772_-57+40773insCAAAAA (n.-57+40772_-57+40773insCAAAAA) | ||
| Y | g.8707943_8707944insTTTATAG | CA2540367648 | c.139+8911_139+8912insTTTATAG (n.139+8911_139+8912insTTTATAG) c.-57+40772_-57+40773insCTATAAA (n.-57+40772_-57+40773insCTATAAA) | ||
| Y | g.8707943_8707944insTTTTGGG | CA2530633451 | c.139+8911_139+8912insTTTTGGG (n.139+8911_139+8912insTTTTGGG) c.-57+40772_-57+40773insCCCAAAA (n.-57+40772_-57+40773insCCCAAAA) | ||
| Y | g.8707943_8707944insTTTTGTG | CA2537206017 | c.139+8911_139+8912insTTTTGTG (n.139+8911_139+8912insTTTTGTG) c.-57+40772_-57+40773insCACAAAA (n.-57+40772_-57+40773insCACAAAA) | ||
| Y | g.8707943_8707944insTTGAGAGG | CA2824552563 | c.139+8911_139+8912insTTGAGAGG (n.139+8911_139+8912insTTGAGAGG) c.-57+40772_-57+40773insCCTCTCAA (n.-57+40772_-57+40773insCCTCTCAA) | ||
| Y | g.8707943_8707944insTTTTTGGG | CA2565281205 | c.139+8911_139+8912insTTTTTGGG (n.139+8911_139+8912insTTTTTGGG) c.-57+40772_-57+40773insCCCAAAAA (n.-57+40772_-57+40773insCCCAAAAA) | ||
| Y | g.8707943_8707944insTTTTTGGGG | CA2523230335 | c.139+8911_139+8912insTTTTTGGGG (n.139+8911_139+8912insTTTTTGGGG) c.-57+40772_-57+40773insCCCCAAAAA (n.-57+40772_-57+40773insCCCCAAAAA) | ||
| Y | g.8707943_8707944insTTGGGTGGGG | CA2824552562 | c.139+8911_139+8912insTTGGGTGGGG (n.139+8911_139+8912insTTGGGTGGGG) c.-57+40772_-57+40773insCCCCACCCAA (n.-57+40772_-57+40773insCCCCACCCAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTTG | CA2589281099 | c.139+8911_139+8912insTTTTTTTTTTG (n.139+8911_139+8912insTTTTTTTTTTG) c.-57+40772_-57+40773insCAAAAAAAAAA (n.-57+40772_-57+40773insCAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTGA | CA2572665883 | c.139+8911_139+8912insTTTTTTTTTTTGA (n.139+8911_139+8912insTTTTTTTTTTTGA) c.-57+40772_-57+40773insTCAAAAAAAAAAA (n.-57+40772_-57+40773insTCAAAAAAAAAAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTTTGG | CA2824552561 | c.139+8911_139+8912insTTTTTTTTTTTGG (n.139+8911_139+8912insTTTTTTTTTTTGG) c.-57+40772_-57+40773insCCAAAAAAAAAAA (n.-57+40772_-57+40773insCCAAAAAAAAAAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTTTTG | CA1138938049 | c.139+8911_139+8912insTTTTTTTTTTTTG (n.139+8911_139+8912insTTTTTTTTTTTTG) c.-57+40772_-57+40773insCAAAAAAAAAAAA (n.-57+40772_-57+40773insCAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTG | CA2550215284 | c.139+8911_139+8912insTTTTTTTTTTTTTG (n.139+8911_139+8912insTTTTTTTTTTTTTG) c.-57+40772_-57+40773insCAAAAAAAAAAAAA (n.-57+40772_-57+40773insCAAAAAAAAAAAAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTGGGGGG | CA2566570444 | c.139+8911_139+8912insTTTTTTTTTGGGGGG (n.139+8911_139+8912insTTTTTTTTTGGGGGG) c.-57+40772_-57+40773insCCCCCCAAAAAAAAA (n.-57+40772_-57+40773insCCCCCCAAAAAAAAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTTTTTTG | CA2589281100 | c.139+8911_139+8912insTTTTTTTTTTTTTTG (n.139+8911_139+8912insTTTTTTTTTTTTTTG) c.-57+40772_-57+40773insCAAAAAAAAAAAAAA (n.-57+40772_-57+40773insCAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTGGGTG | CA1138938039 | c.139+8911_139+8912insTTTTTTTTTTTGGGTG (n.139+8911_139+8912insTTTTTTTTTTTGGGTG) c.-57+40772_-57+40773insCACCCAAAAAAAAAAA (n.-57+40772_-57+40773insCACCCAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTGTGG | CA2824552564 | c.139+8911_139+8912insTTTTTTTTTTTTGTGG (n.139+8911_139+8912insTTTTTTTTTTTTGTGG) c.-57+40772_-57+40773insCCACAAAAAAAAAAAA (n.-57+40772_-57+40773insCCACAAAAAAAAAAAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTTTTGTGTG | CA2824552560 | c.139+8911_139+8912insTTTTTTTTTTTTGTGTG (n.139+8911_139+8912insTTTTTTTTTTTTGTGTG) c.-57+40772_-57+40773insCACACAAAAAAAAAAAA (n.-57+40772_-57+40773insCACACAAAAAAAAAAAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTG | CA1138938055 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTG (n.139+8911_139+8912insTTTTTTTTTTTTTTTTG) c.-57+40772_-57+40773insCAAAAAAAAAAAAAAAA (n.-57+40772_-57+40773insCAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTGTTG | CA2824552559 | c.139+8911_139+8912insTTTTTTTTTTTTTTGTTG (n.139+8911_139+8912insTTTTTTTTTTTTTTGTTG) c.-57+40772_-57+40773insCAACAAAAAAAAAAAAAA (n.-57+40772_-57+40773insCAACAAAAAAAAAAAAAA) | ||
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTGG | CA2589281101 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTGG (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTGG) c.-57+40772_-57+40773insCCAAAAAAAAAAAAAAAAA (n.-57+40772_-57+40773insCCAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707943_8707944insTTTTTTTTTTTTTTTTTGA | CA1138938057 | c.139+8911_139+8912insTTTTTTTTTTTTTTTTTGA (n.139+8911_139+8912insTTTTTTTTTTTTTTTTTGA) c.-57+40772_-57+40773insTCAAAAAAAAAAAAAAAAA (n.-57+40772_-57+40773insTCAAAAAAAAAAAAAAAAA) | gnomAD v3 gnomAD v4 | |
| Y | g.8707944G= | CA2470007448 | c.139+8912G= (n.139+8912G=) c.-57+40772C= (n.-57+40772C=) | ||
| Y | g.8707944G>T | CA1138938058 | c.139+8912G>T (n.139+8912G>T) c.-57+40772C>A (n.-57+40772C>A) | dbSNP gnomAD v3 gnomAD v4 | |
| Y | g.8707944_8707945del | CA2541385449 | c.139+8912_139+8913del (n.139+8912_139+8913del) c.-57+40771_-57+40772del (n.-57+40771_-57+40772del) | ||
| Y | g.8707945_8707949del | CA2824552558 | c.139+8913_139+8917del (n.139+8913_139+8917del) c.-57+40768_-57+40772del (n.-57+40768_-57+40772del) |