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.99818117_99818414del | CA2781475913 | VPS13B | c.8436+314_8437-37del (n.8436+314_8437-37del) n.8506+314_8507-37del c.*4118+314_*4119-37del (n.*4118+314_*4119-37del) c.8361+314_8362-37del (n.8361+314_8362-37del) c.8433+314_8434-37del (n.8433+314_8434-37del) c.8358+314_8359-37del (n.8358+314_8359-37del) c.8058+314_8059-37del (n.8058+314_8059-37del) c.5322+314_5323-37del (n.5322+314_5323-37del) c.4215+314_4216-37del (n.4215+314_4216-37del) c.8241+314_8242-37del (n.8241+314_8242-37del) c.3993+314_3994-37del (n.3993+314_3994-37del) c.7221+314_7222-37del (n.7221+314_7222-37del) | |
| 8 | g.99818228_99818391del | CA2781475917 | VPS13B | c.8437-223_8437-60del (n.8437-223_8437-60del) n.8507-223_8507-60del c.*4119-223_*4119-60del (n.*4119-223_*4119-60del) c.8362-223_8362-60del (n.8362-223_8362-60del) c.8434-223_8434-60del (n.8434-223_8434-60del) c.8359-223_8359-60del (n.8359-223_8359-60del) c.8059-223_8059-60del (n.8059-223_8059-60del) c.5323-223_5323-60del (n.5323-223_5323-60del) c.4216-223_4216-60del (n.4216-223_4216-60del) c.8242-223_8242-60del (n.8242-223_8242-60del) c.3994-223_3994-60del (n.3994-223_3994-60del) c.7222-223_7222-60del (n.7222-223_7222-60del) | |
| 8 | g.99818388T>C | CA2688069407 | VPS13B | c.8437-63T>C (n.8437-63T>C) n.8507-63T>C c.*4119-63T>C (n.*4119-63T>C) c.8362-63T>C (n.8362-63T>C) c.8434-63T>C (n.8434-63T>C) c.8359-63T>C (n.8359-63T>C) c.8059-63T>C (n.8059-63T>C) c.5323-63T>C (n.5323-63T>C) c.4216-63T>C (n.4216-63T>C) c.8242-63T>C (n.8242-63T>C) c.3994-63T>C (n.3994-63T>C) c.7222-63T>C (n.7222-63T>C) | gnomAD v4 |
| 8 | g.99818390A>T | CA2561554621 | VPS13B | c.8437-61A>T (n.8437-61A>T) n.8507-61A>T c.*4119-61A>T (n.*4119-61A>T) c.8362-61A>T (n.8362-61A>T) c.8434-61A>T (n.8434-61A>T) c.8359-61A>T (n.8359-61A>T) c.8059-61A>T (n.8059-61A>T) c.5323-61A>T (n.5323-61A>T) c.4216-61A>T (n.4216-61A>T) c.8242-61A>T (n.8242-61A>T) c.3994-61A>T (n.3994-61A>T) c.7222-61A>T (n.7222-61A>T) | |
| 8 | g.99818391T>C | CA2688069409 | VPS13B | c.8437-60T>C (n.8437-60T>C) n.8507-60T>C c.*4119-60T>C (n.*4119-60T>C) c.8362-60T>C (n.8362-60T>C) c.8434-60T>C (n.8434-60T>C) c.8359-60T>C (n.8359-60T>C) c.8059-60T>C (n.8059-60T>C) c.5323-60T>C (n.5323-60T>C) c.4216-60T>C (n.4216-60T>C) c.8242-60T>C (n.8242-60T>C) c.3994-60T>C (n.3994-60T>C) c.7222-60T>C (n.7222-60T>C) | gnomAD v4 |
| 8 | g.99818394del | CA2688069408 | VPS13B | c.8437-57del (n.8437-57del) n.8507-57del c.*4119-57del (n.*4119-57del) c.8362-57del (n.8362-57del) c.8434-57del (n.8434-57del) c.8359-57del (n.8359-57del) c.8059-57del (n.8059-57del) c.5323-57del (n.5323-57del) c.4216-57del (n.4216-57del) c.8242-57del (n.8242-57del) c.3994-57del (n.3994-57del) c.7222-57del (n.7222-57del) | gnomAD v4 |
| 8 | g.99818395G>A | CA2688069410 | VPS13B | c.8437-56G>A (n.8437-56G>A) n.8507-56G>A c.*4119-56G>A (n.*4119-56G>A) c.8362-56G>A (n.8362-56G>A) c.8434-56G>A (n.8434-56G>A) c.8359-56G>A (n.8359-56G>A) c.8059-56G>A (n.8059-56G>A) c.5323-56G>A (n.5323-56G>A) c.4216-56G>A (n.4216-56G>A) c.8242-56G>A (n.8242-56G>A) c.3994-56G>A (n.3994-56G>A) c.7222-56G>A (n.7222-56G>A) | dbSNP gnomAD v4 |
| 8 | g.99818395G>C | CA2688069411 | VPS13B | c.8437-56G>C (n.8437-56G>C) n.8507-56G>C c.*4119-56G>C (n.*4119-56G>C) c.8362-56G>C (n.8362-56G>C) c.8434-56G>C (n.8434-56G>C) c.8359-56G>C (n.8359-56G>C) c.8059-56G>C (n.8059-56G>C) c.5323-56G>C (n.5323-56G>C) c.4216-56G>C (n.4216-56G>C) c.8242-56G>C (n.8242-56G>C) c.3994-56G>C (n.3994-56G>C) c.7222-56G>C (n.7222-56G>C) | gnomAD v4 |
| 8 | g.99818395G>T | CA2688069412 | VPS13B | c.8437-56G>T (n.8437-56G>T) n.8507-56G>T c.*4119-56G>T (n.*4119-56G>T) c.8362-56G>T (n.8362-56G>T) c.8434-56G>T (n.8434-56G>T) c.8359-56G>T (n.8359-56G>T) c.8059-56G>T (n.8059-56G>T) c.5323-56G>T (n.5323-56G>T) c.4216-56G>T (n.4216-56G>T) c.8242-56G>T (n.8242-56G>T) c.3994-56G>T (n.3994-56G>T) c.7222-56G>T (n.7222-56G>T) | gnomAD v4 |
| 8 | g.99818396A>G | CA2688069413 | VPS13B | c.8437-55A>G (n.8437-55A>G) n.8507-55A>G c.*4119-55A>G (n.*4119-55A>G) c.8362-55A>G (n.8362-55A>G) c.8434-55A>G (n.8434-55A>G) c.8359-55A>G (n.8359-55A>G) c.8059-55A>G (n.8059-55A>G) c.5323-55A>G (n.5323-55A>G) c.4216-55A>G (n.4216-55A>G) c.8242-55A>G (n.8242-55A>G) c.3994-55A>G (n.3994-55A>G) c.7222-55A>G (n.7222-55A>G) | gnomAD v4 |
| 8 | g.99818396A>T | CA182327840 | VPS13B | c.8437-55A>T (n.8437-55A>T) n.8507-55A>T c.*4119-55A>T (n.*4119-55A>T) c.8362-55A>T (n.8362-55A>T) c.8434-55A>T (n.8434-55A>T) c.8359-55A>T (n.8359-55A>T) c.8059-55A>T (n.8059-55A>T) c.5323-55A>T (n.5323-55A>T) c.4216-55A>T (n.4216-55A>T) c.8242-55A>T (n.8242-55A>T) c.3994-55A>T (n.3994-55A>T) c.7222-55A>T (n.7222-55A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818398T>C | CA2781475923 | VPS13B | c.8437-53T>C (n.8437-53T>C) n.8507-53T>C c.*4119-53T>C (n.*4119-53T>C) c.8362-53T>C (n.8362-53T>C) c.8434-53T>C (n.8434-53T>C) c.8359-53T>C (n.8359-53T>C) c.8059-53T>C (n.8059-53T>C) c.5323-53T>C (n.5323-53T>C) c.4216-53T>C (n.4216-53T>C) c.8242-53T>C (n.8242-53T>C) c.3994-53T>C (n.3994-53T>C) c.7222-53T>C (n.7222-53T>C) | |
| 8 | g.99818399A>G | CA2718037271 | VPS13B | c.8437-52A>G (n.8437-52A>G) n.8507-52A>G c.*4119-52A>G (n.*4119-52A>G) c.8362-52A>G (n.8362-52A>G) c.8434-52A>G (n.8434-52A>G) c.8359-52A>G (n.8359-52A>G) c.8059-52A>G (n.8059-52A>G) c.5323-52A>G (n.5323-52A>G) c.4216-52A>G (n.4216-52A>G) c.8242-52A>G (n.8242-52A>G) c.3994-52A>G (n.3994-52A>G) c.7222-52A>G (n.7222-52A>G) | dbSNP |
| 8 | g.99818404G>T | CA1117126062 | VPS13B | c.8437-47G>T (n.8437-47G>T) n.8507-47G>T c.*4119-47G>T (n.*4119-47G>T) c.8362-47G>T (n.8362-47G>T) c.8434-47G>T (n.8434-47G>T) c.8359-47G>T (n.8359-47G>T) c.8059-47G>T (n.8059-47G>T) c.5323-47G>T (n.5323-47G>T) c.4216-47G>T (n.4216-47G>T) c.8242-47G>T (n.8242-47G>T) c.3994-47G>T (n.3994-47G>T) c.7222-47G>T (n.7222-47G>T) | dbSNP |
| 8 | g.99818406A>C | CA2688069414 | VPS13B | c.8437-45A>C (n.8437-45A>C) n.8507-45A>C c.*4119-45A>C (n.*4119-45A>C) c.8362-45A>C (n.8362-45A>C) c.8434-45A>C (n.8434-45A>C) c.8359-45A>C (n.8359-45A>C) c.8059-45A>C (n.8059-45A>C) c.5323-45A>C (n.5323-45A>C) c.4216-45A>C (n.4216-45A>C) c.8242-45A>C (n.8242-45A>C) c.3994-45A>C (n.3994-45A>C) c.7222-45A>C (n.7222-45A>C) | gnomAD v4 |
| 8 | g.99818406A>G | CA2579216251 | VPS13B | c.8437-45A>G (n.8437-45A>G) n.8507-45A>G c.*4119-45A>G (n.*4119-45A>G) c.8362-45A>G (n.8362-45A>G) c.8434-45A>G (n.8434-45A>G) c.8359-45A>G (n.8359-45A>G) c.8059-45A>G (n.8059-45A>G) c.5323-45A>G (n.5323-45A>G) c.4216-45A>G (n.4216-45A>G) c.8242-45A>G (n.8242-45A>G) c.3994-45A>G (n.3994-45A>G) c.7222-45A>G (n.7222-45A>G) | gnomAD v4 |
| 8 | g.99818406A>T | CA2688069415 | VPS13B | c.8437-45A>T (n.8437-45A>T) n.8507-45A>T c.*4119-45A>T (n.*4119-45A>T) c.8362-45A>T (n.8362-45A>T) c.8434-45A>T (n.8434-45A>T) c.8359-45A>T (n.8359-45A>T) c.8059-45A>T (n.8059-45A>T) c.5323-45A>T (n.5323-45A>T) c.4216-45A>T (n.4216-45A>T) c.8242-45A>T (n.8242-45A>T) c.3994-45A>T (n.3994-45A>T) c.7222-45A>T (n.7222-45A>T) | gnomAD v4 |
| 8 | g.99818408A>C | CA2688069416 | VPS13B | c.8437-43A>C (n.8437-43A>C) n.8507-43A>C c.*4119-43A>C (n.*4119-43A>C) c.8362-43A>C (n.8362-43A>C) c.8434-43A>C (n.8434-43A>C) c.8359-43A>C (n.8359-43A>C) c.8059-43A>C (n.8059-43A>C) c.5323-43A>C (n.5323-43A>C) c.4216-43A>C (n.4216-43A>C) c.8242-43A>C (n.8242-43A>C) c.3994-43A>C (n.3994-43A>C) c.7222-43A>C (n.7222-43A>C) | gnomAD v4 |
| 8 | g.99818408A>G | CA2688069417 | VPS13B | c.8437-43A>G (n.8437-43A>G) n.8507-43A>G c.*4119-43A>G (n.*4119-43A>G) c.8362-43A>G (n.8362-43A>G) c.8434-43A>G (n.8434-43A>G) c.8359-43A>G (n.8359-43A>G) c.8059-43A>G (n.8059-43A>G) c.5323-43A>G (n.5323-43A>G) c.4216-43A>G (n.4216-43A>G) c.8242-43A>G (n.8242-43A>G) c.3994-43A>G (n.3994-43A>G) c.7222-43A>G (n.7222-43A>G) | gnomAD v4 |
| 8 | g.99818410T>A | CA2688069418 | VPS13B | c.8437-41T>A (n.8437-41T>A) n.8507-41T>A c.*4119-41T>A (n.*4119-41T>A) c.8362-41T>A (n.8362-41T>A) c.8434-41T>A (n.8434-41T>A) c.8359-41T>A (n.8359-41T>A) c.8059-41T>A (n.8059-41T>A) c.5323-41T>A (n.5323-41T>A) c.4216-41T>A (n.4216-41T>A) c.8242-41T>A (n.8242-41T>A) c.3994-41T>A (n.3994-41T>A) c.7222-41T>A (n.7222-41T>A) | gnomAD v4 |
| 8 | g.99818411G>A | CA857598779 | VPS13B | c.8437-40G>A (n.8437-40G>A) n.8507-40G>A c.*4119-40G>A (n.*4119-40G>A) c.8362-40G>A (n.8362-40G>A) c.8434-40G>A (n.8434-40G>A) c.8359-40G>A (n.8359-40G>A) c.8059-40G>A (n.8059-40G>A) c.5323-40G>A (n.5323-40G>A) c.4216-40G>A (n.4216-40G>A) c.8242-40G>A (n.8242-40G>A) c.3994-40G>A (n.3994-40G>A) c.7222-40G>A (n.7222-40G>A) | dbSNP gnomAD v4 |
| 8 | g.99818411G>T | CA2531321029 | VPS13B | c.8437-40G>T (n.8437-40G>T) n.8507-40G>T c.*4119-40G>T (n.*4119-40G>T) c.8362-40G>T (n.8362-40G>T) c.8434-40G>T (n.8434-40G>T) c.8359-40G>T (n.8359-40G>T) c.8059-40G>T (n.8059-40G>T) c.5323-40G>T (n.5323-40G>T) c.4216-40G>T (n.4216-40G>T) c.8242-40G>T (n.8242-40G>T) c.3994-40G>T (n.3994-40G>T) c.7222-40G>T (n.7222-40G>T) | dbSNP |
| 8 | g.99818412C>A | CA2688069419 | VPS13B | c.8437-39C>A (n.8437-39C>A) n.8507-39C>A c.*4119-39C>A (n.*4119-39C>A) c.8362-39C>A (n.8362-39C>A) c.8434-39C>A (n.8434-39C>A) c.8359-39C>A (n.8359-39C>A) c.8059-39C>A (n.8059-39C>A) c.5323-39C>A (n.5323-39C>A) c.4216-39C>A (n.4216-39C>A) c.8242-39C>A (n.8242-39C>A) c.3994-39C>A (n.3994-39C>A) c.7222-39C>A (n.7222-39C>A) | gnomAD v4 |
| 8 | g.99818412C>T | CA2544100842 | VPS13B | c.8437-39C>T (n.8437-39C>T) n.8507-39C>T c.*4119-39C>T (n.*4119-39C>T) c.8362-39C>T (n.8362-39C>T) c.8434-39C>T (n.8434-39C>T) c.8359-39C>T (n.8359-39C>T) c.8059-39C>T (n.8059-39C>T) c.5323-39C>T (n.5323-39C>T) c.4216-39C>T (n.4216-39C>T) c.8242-39C>T (n.8242-39C>T) c.3994-39C>T (n.3994-39C>T) c.7222-39C>T (n.7222-39C>T) | |
| 8 | g.99818413T>A | CA857598785 | VPS13B | c.8437-38T>A (n.8437-38T>A) n.8507-38T>A c.*4119-38T>A (n.*4119-38T>A) c.8362-38T>A (n.8362-38T>A) c.8434-38T>A (n.8434-38T>A) c.8359-38T>A (n.8359-38T>A) c.8059-38T>A (n.8059-38T>A) c.5323-38T>A (n.5323-38T>A) c.4216-38T>A (n.4216-38T>A) c.8242-38T>A (n.8242-38T>A) c.3994-38T>A (n.3994-38T>A) c.7222-38T>A (n.7222-38T>A) | dbSNP |
| 8 | g.99818413T>C | CA4824433 | VPS13B | c.8437-38T>C (n.8437-38T>C) n.8507-38T>C c.*4119-38T>C (n.*4119-38T>C) c.8362-38T>C (n.8362-38T>C) c.8434-38T>C (n.8434-38T>C) c.8359-38T>C (n.8359-38T>C) c.8059-38T>C (n.8059-38T>C) c.5323-38T>C (n.5323-38T>C) c.4216-38T>C (n.4216-38T>C) c.8242-38T>C (n.8242-38T>C) c.3994-38T>C (n.3994-38T>C) c.7222-38T>C (n.7222-38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818414T>C | CA4824434 | VPS13B | c.8437-37T>C (n.8437-37T>C) n.8507-37T>C c.*4119-37T>C (n.*4119-37T>C) c.8362-37T>C (n.8362-37T>C) c.8434-37T>C (n.8434-37T>C) c.8359-37T>C (n.8359-37T>C) c.8059-37T>C (n.8059-37T>C) c.5323-37T>C (n.5323-37T>C) c.4216-37T>C (n.4216-37T>C) c.8242-37T>C (n.8242-37T>C) c.3994-37T>C (n.3994-37T>C) c.7222-37T>C (n.7222-37T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818415A>C | CA2688069420 | VPS13B | c.8437-36A>C (n.8437-36A>C) n.8507-36A>C c.*4119-36A>C (n.*4119-36A>C) c.8362-36A>C (n.8362-36A>C) c.8434-36A>C (n.8434-36A>C) c.8359-36A>C (n.8359-36A>C) c.8059-36A>C (n.8059-36A>C) c.5323-36A>C (n.5323-36A>C) c.4216-36A>C (n.4216-36A>C) c.8242-36A>C (n.8242-36A>C) c.3994-36A>C (n.3994-36A>C) c.7222-36A>C (n.7222-36A>C) | gnomAD v4 |
| 8 | g.99818416G>A | CA2688069421 | VPS13B | c.8437-35G>A (n.8437-35G>A) n.8507-35G>A c.*4119-35G>A (n.*4119-35G>A) c.8362-35G>A (n.8362-35G>A) c.8434-35G>A (n.8434-35G>A) c.8359-35G>A (n.8359-35G>A) c.8059-35G>A (n.8059-35G>A) c.5323-35G>A (n.5323-35G>A) c.4216-35G>A (n.4216-35G>A) c.8242-35G>A (n.8242-35G>A) c.3994-35G>A (n.3994-35G>A) c.7222-35G>A (n.7222-35G>A) | gnomAD v4 |
| 8 | g.99818417T>C | CA4824435 | VPS13B | c.8437-34T>C (n.8437-34T>C) n.8507-34T>C c.*4119-34T>C (n.*4119-34T>C) c.8362-34T>C (n.8362-34T>C) c.8434-34T>C (n.8434-34T>C) c.8359-34T>C (n.8359-34T>C) c.8059-34T>C (n.8059-34T>C) c.5323-34T>C (n.5323-34T>C) c.4216-34T>C (n.4216-34T>C) c.8242-34T>C (n.8242-34T>C) c.3994-34T>C (n.3994-34T>C) c.7222-34T>C (n.7222-34T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818418A>G | CA2579216252 | VPS13B | c.8437-33A>G (n.8437-33A>G) n.8507-33A>G c.*4119-33A>G (n.*4119-33A>G) c.8362-33A>G (n.8362-33A>G) c.8434-33A>G (n.8434-33A>G) c.8359-33A>G (n.8359-33A>G) c.8059-33A>G (n.8059-33A>G) c.5323-33A>G (n.5323-33A>G) c.4216-33A>G (n.4216-33A>G) c.8242-33A>G (n.8242-33A>G) c.3994-33A>G (n.3994-33A>G) c.7222-33A>G (n.7222-33A>G) | |
| 8 | g.99818418A>T | CA4824436 | VPS13B | c.8437-33A>T (n.8437-33A>T) n.8507-33A>T c.*4119-33A>T (n.*4119-33A>T) c.8362-33A>T (n.8362-33A>T) c.8434-33A>T (n.8434-33A>T) c.8359-33A>T (n.8359-33A>T) c.8059-33A>T (n.8059-33A>T) c.5323-33A>T (n.5323-33A>T) c.4216-33A>T (n.4216-33A>T) c.8242-33A>T (n.8242-33A>T) c.3994-33A>T (n.3994-33A>T) c.7222-33A>T (n.7222-33A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818419T>C | CA2688069422 | VPS13B | c.8437-32T>C (n.8437-32T>C) n.8507-32T>C c.*4119-32T>C (n.*4119-32T>C) c.8362-32T>C (n.8362-32T>C) c.8434-32T>C (n.8434-32T>C) c.8359-32T>C (n.8359-32T>C) c.8059-32T>C (n.8059-32T>C) c.5323-32T>C (n.5323-32T>C) c.4216-32T>C (n.4216-32T>C) c.8242-32T>C (n.8242-32T>C) c.3994-32T>C (n.3994-32T>C) c.7222-32T>C (n.7222-32T>C) | gnomAD v4 |
| 8 | g.99818421del | CA2781475924 | VPS13B | c.8437-30del (n.8437-30del) n.8507-30del c.*4119-30del (n.*4119-30del) c.8362-30del (n.8362-30del) c.8434-30del (n.8434-30del) c.8359-30del (n.8359-30del) c.8059-30del (n.8059-30del) c.5323-30del (n.5323-30del) c.4216-30del (n.4216-30del) c.8242-30del (n.8242-30del) c.3994-30del (n.3994-30del) c.7222-30del (n.7222-30del) | |
| 8 | g.99818421C>A | CA583855078 | VPS13B | c.8437-30C>A (n.8437-30C>A) n.8507-30C>A c.*4119-30C>A (n.*4119-30C>A) c.8362-30C>A (n.8362-30C>A) c.8434-30C>A (n.8434-30C>A) c.8359-30C>A (n.8359-30C>A) c.8059-30C>A (n.8059-30C>A) c.5323-30C>A (n.5323-30C>A) c.4216-30C>A (n.4216-30C>A) c.8242-30C>A (n.8242-30C>A) c.3994-30C>A (n.3994-30C>A) c.7222-30C>A (n.7222-30C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818421C>T | CA2539093532 | VPS13B | c.8437-30C>T (n.8437-30C>T) n.8507-30C>T c.*4119-30C>T (n.*4119-30C>T) c.8362-30C>T (n.8362-30C>T) c.8434-30C>T (n.8434-30C>T) c.8359-30C>T (n.8359-30C>T) c.8059-30C>T (n.8059-30C>T) c.5323-30C>T (n.5323-30C>T) c.4216-30C>T (n.4216-30C>T) c.8242-30C>T (n.8242-30C>T) c.3994-30C>T (n.3994-30C>T) c.7222-30C>T (n.7222-30C>T) | |
| 8 | g.99818423del | CA1117126066 | VPS13B | c.8437-28del (n.8437-28del) n.8507-28del c.*4119-28del (n.*4119-28del) c.8362-28del (n.8362-28del) c.8434-28del (n.8434-28del) c.8359-28del (n.8359-28del) c.8059-28del (n.8059-28del) c.5323-28del (n.5323-28del) c.4216-28del (n.4216-28del) c.8242-28del (n.8242-28del) c.3994-28del (n.3994-28del) c.7222-28del (n.7222-28del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818423A>G | CA583855079 | VPS13B | c.8437-28A>G (n.8437-28A>G) n.8507-28A>G c.*4119-28A>G (n.*4119-28A>G) c.8362-28A>G (n.8362-28A>G) c.8434-28A>G (n.8434-28A>G) c.8359-28A>G (n.8359-28A>G) c.8059-28A>G (n.8059-28A>G) c.5323-28A>G (n.5323-28A>G) c.4216-28A>G (n.4216-28A>G) c.8242-28A>G (n.8242-28A>G) c.3994-28A>G (n.3994-28A>G) c.7222-28A>G (n.7222-28A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818425A>T | CA2781475925 | VPS13B | c.8437-26A>T (n.8437-26A>T) n.8507-26A>T c.*4119-26A>T (n.*4119-26A>T) c.8362-26A>T (n.8362-26A>T) c.8434-26A>T (n.8434-26A>T) c.8359-26A>T (n.8359-26A>T) c.8059-26A>T (n.8059-26A>T) c.5323-26A>T (n.5323-26A>T) c.4216-26A>T (n.4216-26A>T) c.8242-26A>T (n.8242-26A>T) c.3994-26A>T (n.3994-26A>T) c.7222-26A>T (n.7222-26A>T) | |
| 8 | g.99818426G>A | CA2717813724 | VPS13B | c.8437-25G>A (n.8437-25G>A) n.8507-25G>A c.*4119-25G>A (n.*4119-25G>A) c.8362-25G>A (n.8362-25G>A) c.8434-25G>A (n.8434-25G>A) c.8359-25G>A (n.8359-25G>A) c.8059-25G>A (n.8059-25G>A) c.5323-25G>A (n.5323-25G>A) c.4216-25G>A (n.4216-25G>A) c.8242-25G>A (n.8242-25G>A) c.3994-25G>A (n.3994-25G>A) c.7222-25G>A (n.7222-25G>A) | dbSNP |
| 8 | g.99818427G>A | CA857598796 | VPS13B | c.8437-24G>A (n.8437-24G>A) n.8507-24G>A c.*4119-24G>A (n.*4119-24G>A) c.8362-24G>A (n.8362-24G>A) c.8434-24G>A (n.8434-24G>A) c.8359-24G>A (n.8359-24G>A) c.8059-24G>A (n.8059-24G>A) c.5323-24G>A (n.5323-24G>A) c.4216-24G>A (n.4216-24G>A) c.8242-24G>A (n.8242-24G>A) c.3994-24G>A (n.3994-24G>A) c.7222-24G>A (n.7222-24G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818428A>T | CA2717813725 | VPS13B | c.8437-23A>T (n.8437-23A>T) n.8507-23A>T c.*4119-23A>T (n.*4119-23A>T) c.8362-23A>T (n.8362-23A>T) c.8434-23A>T (n.8434-23A>T) c.8359-23A>T (n.8359-23A>T) c.8059-23A>T (n.8059-23A>T) c.5323-23A>T (n.5323-23A>T) c.4216-23A>T (n.4216-23A>T) c.8242-23A>T (n.8242-23A>T) c.3994-23A>T (n.3994-23A>T) c.7222-23A>T (n.7222-23A>T) | dbSNP |
| 8 | g.99818429C>A | CA2688069423 | VPS13B | c.8437-22C>A (n.8437-22C>A) n.8507-22C>A c.*4119-22C>A (n.*4119-22C>A) c.8362-22C>A (n.8362-22C>A) c.8434-22C>A (n.8434-22C>A) c.8359-22C>A (n.8359-22C>A) c.8059-22C>A (n.8059-22C>A) c.5323-22C>A (n.5323-22C>A) c.4216-22C>A (n.4216-22C>A) c.8242-22C>A (n.8242-22C>A) c.3994-22C>A (n.3994-22C>A) c.7222-22C>A (n.7222-22C>A) | gnomAD v4 |
| 8 | g.99818429C>T | CA1117126067 | VPS13B | c.8437-22C>T (n.8437-22C>T) n.8507-22C>T c.*4119-22C>T (n.*4119-22C>T) c.8362-22C>T (n.8362-22C>T) c.8434-22C>T (n.8434-22C>T) c.8359-22C>T (n.8359-22C>T) c.8059-22C>T (n.8059-22C>T) c.5323-22C>T (n.5323-22C>T) c.4216-22C>T (n.4216-22C>T) c.8242-22C>T (n.8242-22C>T) c.3994-22C>T (n.3994-22C>T) c.7222-22C>T (n.7222-22C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818430C>T | CA2579216253 | VPS13B | c.8437-21C>T (n.8437-21C>T) n.8507-21C>T c.*4119-21C>T (n.*4119-21C>T) c.8362-21C>T (n.8362-21C>T) c.8434-21C>T (n.8434-21C>T) c.8359-21C>T (n.8359-21C>T) c.8059-21C>T (n.8059-21C>T) c.5323-21C>T (n.5323-21C>T) c.4216-21C>T (n.4216-21C>T) c.8242-21C>T (n.8242-21C>T) c.3994-21C>T (n.3994-21C>T) c.7222-21C>T (n.7222-21C>T) | gnomAD v4 |
| 8 | g.99818435del | CA2688069424 | VPS13B | c.8437-16del (n.8437-16del) n.8507-16del c.*4119-16del (n.*4119-16del) c.8362-16del (n.8362-16del) c.8434-16del (n.8434-16del) c.8359-16del (n.8359-16del) c.8059-16del (n.8059-16del) c.5323-16del (n.5323-16del) c.4216-16del (n.4216-16del) c.8242-16del (n.8242-16del) c.3994-16del (n.3994-16del) c.7222-16del (n.7222-16del) | gnomAD v4 |
| 8 | g.99818435G>T | CA583872643 | VPS13B | c.8437-16G>T (n.8437-16G>T) n.8507-16G>T c.*4119-16G>T (n.*4119-16G>T) c.8362-16G>T (n.8362-16G>T) c.8434-16G>T (n.8434-16G>T) c.8359-16G>T (n.8359-16G>T) c.8059-16G>T (n.8059-16G>T) c.5323-16G>T (n.5323-16G>T) c.4216-16G>T (n.4216-16G>T) c.8242-16G>T (n.8242-16G>T) c.3994-16G>T (n.3994-16G>T) c.7222-16G>T (n.7222-16G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818438A>C | CA2579216254 | VPS13B | c.8437-13A>C (n.8437-13A>C) n.8507-13A>C c.*4119-13A>C (n.*4119-13A>C) c.8362-13A>C (n.8362-13A>C) c.8434-13A>C (n.8434-13A>C) c.8359-13A>C (n.8359-13A>C) c.8059-13A>C (n.8059-13A>C) c.5323-13A>C (n.5323-13A>C) c.4216-13A>C (n.4216-13A>C) c.8242-13A>C (n.8242-13A>C) c.3994-13A>C (n.3994-13A>C) c.7222-13A>C (n.7222-13A>C) | |
| 8 | g.99818438A>G | CA2688069425 | VPS13B | c.8437-13A>G (n.8437-13A>G) n.8507-13A>G c.*4119-13A>G (n.*4119-13A>G) c.8362-13A>G (n.8362-13A>G) c.8434-13A>G (n.8434-13A>G) c.8359-13A>G (n.8359-13A>G) c.8059-13A>G (n.8059-13A>G) c.5323-13A>G (n.5323-13A>G) c.4216-13A>G (n.4216-13A>G) c.8242-13A>G (n.8242-13A>G) c.3994-13A>G (n.3994-13A>G) c.7222-13A>G (n.7222-13A>G) | dbSNP gnomAD v4 |
| 8 | g.99818439T>C | CA4824437 | VPS13B | c.8437-12T>C (n.8437-12T>C) n.8507-12T>C c.*4119-12T>C (n.*4119-12T>C) c.8362-12T>C (n.8362-12T>C) c.8434-12T>C (n.8434-12T>C) c.8359-12T>C (n.8359-12T>C) c.8059-12T>C (n.8059-12T>C) c.5323-12T>C (n.5323-12T>C) c.4216-12T>C (n.4216-12T>C) c.8242-12T>C (n.8242-12T>C) c.3994-12T>C (n.3994-12T>C) c.7222-12T>C (n.7222-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818440T>C | CA2527631260 | VPS13B | c.8437-11T>C (n.8437-11T>C) n.8507-11T>C c.*4119-11T>C (n.*4119-11T>C) c.8362-11T>C (n.8362-11T>C) c.8434-11T>C (n.8434-11T>C) c.8359-11T>C (n.8359-11T>C) c.8059-11T>C (n.8059-11T>C) c.5323-11T>C (n.5323-11T>C) c.4216-11T>C (n.4216-11T>C) c.8242-11T>C (n.8242-11T>C) c.3994-11T>C (n.3994-11T>C) c.7222-11T>C (n.7222-11T>C) | |
| 8 | g.99818442C>T | CA857598805 | VPS13B | c.8437-9C>T (n.8437-9C>T) n.8507-9C>T c.*4119-9C>T (n.*4119-9C>T) c.8362-9C>T (n.8362-9C>T) c.8434-9C>T (n.8434-9C>T) c.8359-9C>T (n.8359-9C>T) c.8059-9C>T (n.8059-9C>T) c.5323-9C>T (n.5323-9C>T) c.4216-9C>T (n.4216-9C>T) c.8242-9C>T (n.8242-9C>T) c.3994-9C>T (n.3994-9C>T) c.7222-9C>T (n.7222-9C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818443A>C | CA182327875 | VPS13B | c.8437-8A>C (n.8437-8A>C) n.8507-8A>C c.*4119-8A>C (n.*4119-8A>C) c.8362-8A>C (n.8362-8A>C) c.8434-8A>C (n.8434-8A>C) c.8359-8A>C (n.8359-8A>C) c.8059-8A>C (n.8059-8A>C) c.5323-8A>C (n.5323-8A>C) c.4216-8A>C (n.4216-8A>C) c.8242-8A>C (n.8242-8A>C) c.3994-8A>C (n.3994-8A>C) c.7222-8A>C (n.7222-8A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818443A>G | CA4824438 | VPS13B | c.8437-8A>G (n.8437-8A>G) n.8507-8A>G c.*4119-8A>G (n.*4119-8A>G) c.8362-8A>G (n.8362-8A>G) c.8434-8A>G (n.8434-8A>G) c.8359-8A>G (n.8359-8A>G) c.8059-8A>G (n.8059-8A>G) c.5323-8A>G (n.5323-8A>G) c.4216-8A>G (n.4216-8A>G) c.8242-8A>G (n.8242-8A>G) c.3994-8A>G (n.3994-8A>G) c.7222-8A>G (n.7222-8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818443A>T | CA2499219486 | VPS13B | c.8437-8A>T (n.8437-8A>T) n.8507-8A>T c.*4119-8A>T (n.*4119-8A>T) c.8362-8A>T (n.8362-8A>T) c.8434-8A>T (n.8434-8A>T) c.8359-8A>T (n.8359-8A>T) c.8059-8A>T (n.8059-8A>T) c.5323-8A>T (n.5323-8A>T) c.4216-8A>T (n.4216-8A>T) c.8242-8A>T (n.8242-8A>T) c.3994-8A>T (n.3994-8A>T) c.7222-8A>T (n.7222-8A>T) | ClinVar dbSNP |
| 8 | g.99818444T>A | CA2688069426 | VPS13B | c.8437-7T>A (n.8437-7T>A) n.8507-7T>A c.*4119-7T>A (n.*4119-7T>A) c.8362-7T>A (n.8362-7T>A) c.8434-7T>A (n.8434-7T>A) c.8359-7T>A (n.8359-7T>A) c.8059-7T>A (n.8059-7T>A) c.5323-7T>A (n.5323-7T>A) c.4216-7T>A (n.4216-7T>A) c.8242-7T>A (n.8242-7T>A) c.3994-7T>A (n.3994-7T>A) c.7222-7T>A (n.7222-7T>A) | gnomAD v4 |
| 8 | g.99818444T>C | CA2688069427 | VPS13B | c.8437-7T>C (n.8437-7T>C) n.8507-7T>C c.*4119-7T>C (n.*4119-7T>C) c.8362-7T>C (n.8362-7T>C) c.8434-7T>C (n.8434-7T>C) c.8359-7T>C (n.8359-7T>C) c.8059-7T>C (n.8059-7T>C) c.5323-7T>C (n.5323-7T>C) c.4216-7T>C (n.4216-7T>C) c.8242-7T>C (n.8242-7T>C) c.3994-7T>C (n.3994-7T>C) c.7222-7T>C (n.7222-7T>C) | gnomAD v4 |
| 8 | g.99818446_99818447del | CA2580617210 | VPS13B | c.8437-5_8437-4del (n.8437-5_8437-4del) n.8507-5_8507-4del c.*4119-5_*4119-4del (n.*4119-5_*4119-4del) c.8362-5_8362-4del (n.8362-5_8362-4del) c.8434-5_8434-4del (n.8434-5_8434-4del) c.8359-5_8359-4del (n.8359-5_8359-4del) c.8059-5_8059-4del (n.8059-5_8059-4del) c.5323-5_5323-4del (n.5323-5_5323-4del) c.4216-5_4216-4del (n.4216-5_4216-4del) c.8242-5_8242-4del (n.8242-5_8242-4del) c.3994-5_3994-4del (n.3994-5_3994-4del) c.7222-5_7222-4del (n.7222-5_7222-4del) | ClinVar dbSNP |
| 8 | g.99818445G>A | CA583872647 | VPS13B | c.8437-6G>A (n.8437-6G>A) n.8507-6G>A c.*4119-6G>A (n.*4119-6G>A) c.8362-6G>A (n.8362-6G>A) c.8434-6G>A (n.8434-6G>A) c.8359-6G>A (n.8359-6G>A) c.8059-6G>A (n.8059-6G>A) c.5323-6G>A (n.5323-6G>A) c.4216-6G>A (n.4216-6G>A) c.8242-6G>A (n.8242-6G>A) c.3994-6G>A (n.3994-6G>A) c.7222-6G>A (n.7222-6G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818445G>T | CA645563669 | VPS13B | c.8437-6G>T (n.8437-6G>T) n.8507-6G>T c.*4119-6G>T (n.*4119-6G>T) c.8362-6G>T (n.8362-6G>T) c.8434-6G>T (n.8434-6G>T) c.8359-6G>T (n.8359-6G>T) c.8059-6G>T (n.8059-6G>T) c.5323-6G>T (n.5323-6G>T) c.4216-6G>T (n.4216-6G>T) c.8242-6G>T (n.8242-6G>T) c.3994-6G>T (n.3994-6G>T) c.7222-6G>T (n.7222-6G>T) | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.99818447G>T | CA4824439 | VPS13B | c.8437-4G>T (n.8437-4G>T) n.8507-4G>T c.*4119-4G>T (n.*4119-4G>T) c.8362-4G>T (n.8362-4G>T) c.8434-4G>T (n.8434-4G>T) c.8359-4G>T (n.8359-4G>T) c.8059-4G>T (n.8059-4G>T) c.5323-4G>T (n.5323-4G>T) c.4216-4G>T (n.4216-4G>T) c.8242-4G>T (n.8242-4G>T) c.3994-4G>T (n.3994-4G>T) c.7222-4G>T (n.7222-4G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818448C>T | CA2579216255 | VPS13B | c.8437-3C>T (n.8437-3C>T) n.8507-3C>T c.*4119-3C>T (n.*4119-3C>T) c.8362-3C>T (n.8362-3C>T) c.8434-3C>T (n.8434-3C>T) c.8359-3C>T (n.8359-3C>T) c.8059-3C>T (n.8059-3C>T) c.5323-3C>T (n.5323-3C>T) c.4216-3C>T (n.4216-3C>T) c.8242-3C>T (n.8242-3C>T) c.3994-3C>T (n.3994-3C>T) c.7222-3C>T (n.7222-3C>T) | gnomAD v4 |
| 8 | g.99818449A>C | CA371773529 | VPS13B | c.8437-2A>C (n.8437-2A>C) n.8507-2A>C c.*4119-2A>C (n.*4119-2A>C) c.8362-2A>C (n.8362-2A>C) c.8434-2A>C (n.8434-2A>C) c.8359-2A>C (n.8359-2A>C) c.8059-2A>C (n.8059-2A>C) c.5323-2A>C (n.5323-2A>C) c.4216-2A>C (n.4216-2A>C) c.8242-2A>C (n.8242-2A>C) c.3994-2A>C (n.3994-2A>C) c.7222-2A>C (n.7222-2A>C) | |
| 8 | g.99818449A>G | CA371773531 | VPS13B | c.8437-2A>G (n.8437-2A>G) n.8507-2A>G c.*4119-2A>G (n.*4119-2A>G) c.8362-2A>G (n.8362-2A>G) c.8434-2A>G (n.8434-2A>G) c.8359-2A>G (n.8359-2A>G) c.8059-2A>G (n.8059-2A>G) c.5323-2A>G (n.5323-2A>G) c.4216-2A>G (n.4216-2A>G) c.8242-2A>G (n.8242-2A>G) c.3994-2A>G (n.3994-2A>G) c.7222-2A>G (n.7222-2A>G) | |
| 8 | g.99818449A>T | CA371773533 | VPS13B | c.8437-2A>T (n.8437-2A>T) n.8507-2A>T c.*4119-2A>T (n.*4119-2A>T) c.8362-2A>T (n.8362-2A>T) c.8434-2A>T (n.8434-2A>T) c.8359-2A>T (n.8359-2A>T) c.8059-2A>T (n.8059-2A>T) c.5323-2A>T (n.5323-2A>T) c.4216-2A>T (n.4216-2A>T) c.8242-2A>T (n.8242-2A>T) c.3994-2A>T (n.3994-2A>T) c.7222-2A>T (n.7222-2A>T) | |
| 8 | g.99818450G>A | CA371773539 | VPS13B | c.8437-1G>A (n.8437-1G>A) n.8507-1G>A c.*4119-1G>A (n.*4119-1G>A) c.8362-1G>A (n.8362-1G>A) c.8434-1G>A (n.8434-1G>A) c.8359-1G>A (n.8359-1G>A) c.8059-1G>A (n.8059-1G>A) c.5323-1G>A (n.5323-1G>A) c.4216-1G>A (n.4216-1G>A) c.8242-1G>A (n.8242-1G>A) c.3994-1G>A (n.3994-1G>A) c.7222-1G>A (n.7222-1G>A) | |
| 8 | g.99818450G>C | CA371773537 | VPS13B | c.8437-1G>C (n.8437-1G>C) n.8507-1G>C c.*4119-1G>C (n.*4119-1G>C) c.8362-1G>C (n.8362-1G>C) c.8434-1G>C (n.8434-1G>C) c.8359-1G>C (n.8359-1G>C) c.8059-1G>C (n.8059-1G>C) c.5323-1G>C (n.5323-1G>C) c.4216-1G>C (n.4216-1G>C) c.8242-1G>C (n.8242-1G>C) c.3994-1G>C (n.3994-1G>C) c.7222-1G>C (n.7222-1G>C) | ClinVar |
| 8 | g.99818450G>T | CA371773535 | VPS13B | c.8437-1G>T (n.8437-1G>T) n.8507-1G>T c.*4119-1G>T (n.*4119-1G>T) c.8362-1G>T (n.8362-1G>T) c.8434-1G>T (n.8434-1G>T) c.8359-1G>T (n.8359-1G>T) c.8059-1G>T (n.8059-1G>T) c.5323-1G>T (n.5323-1G>T) c.4216-1G>T (n.4216-1G>T) c.8242-1G>T (n.8242-1G>T) c.3994-1G>T (n.3994-1G>T) c.7222-1G>T (n.7222-1G>T) | |
| 8 | g.99818451G>A | CA371773541 | VPS13B | c.8437G>A (p.Val2813Met) n.8507G>A c.*4119G>A (n.*4119G>A) c.8362G>A (p.Val2788Met) c.8434G>A (p.Val2812Met) c.8359G>A (p.Val2787Met) c.8059G>A (p.Val2687Met) c.5323G>A (p.Val1775Met) c.4216G>A (p.Val1406Met) c.8242G>A (p.Val2748Met) c.3994G>A (p.Val1332Met) c.7222G>A (p.Val2408Met) | |
| 8 | g.99818451G>C | CA371773543 | VPS13B | c.8437G>C (p.Val2813Leu) n.8507G>C c.*4119G>C (n.*4119G>C) c.8362G>C (p.Val2788Leu) c.8434G>C (p.Val2812Leu) c.8359G>C (p.Val2787Leu) c.8059G>C (p.Val2687Leu) c.5323G>C (p.Val1775Leu) c.4216G>C (p.Val1406Leu) c.8242G>C (p.Val2748Leu) c.3994G>C (p.Val1332Leu) c.7222G>C (p.Val2408Leu) | |
| 8 | g.99818451G>T | CA371773545 | VPS13B | c.8437G>T (p.Val2813Leu) n.8507G>T c.*4119G>T (n.*4119G>T) c.8362G>T (p.Val2788Leu) c.8434G>T (p.Val2812Leu) c.8359G>T (p.Val2787Leu) c.8059G>T (p.Val2687Leu) c.5323G>T (p.Val1775Leu) c.4216G>T (p.Val1406Leu) c.8242G>T (p.Val2748Leu) c.3994G>T (p.Val1332Leu) c.7222G>T (p.Val2408Leu) | ClinVar gnomAD v4 |
| 8 | g.99818452T>A | CA371773547 | VPS13B | c.8438T>A (p.Val2813Glu) n.8508T>A c.*4120T>A (n.*4120T>A) c.8363T>A (p.Val2788Glu) c.8435T>A (p.Val2812Glu) c.8360T>A (p.Val2787Glu) c.8060T>A (p.Val2687Glu) c.5324T>A (p.Val1775Glu) c.4217T>A (p.Val1406Glu) c.8243T>A (p.Val2748Glu) c.3995T>A (p.Val1332Glu) c.7223T>A (p.Val2408Glu) | |
| 8 | g.99818452T>C | CA371773549 | VPS13B | c.8438T>C (p.Val2813Ala) n.8508T>C c.*4120T>C (n.*4120T>C) c.8363T>C (p.Val2788Ala) c.8435T>C (p.Val2812Ala) c.8360T>C (p.Val2787Ala) c.8060T>C (p.Val2687Ala) c.5324T>C (p.Val1775Ala) c.4217T>C (p.Val1406Ala) c.8243T>C (p.Val2748Ala) c.3995T>C (p.Val1332Ala) c.7223T>C (p.Val2408Ala) | |
| 8 | g.99818452T>G | CA371773551 | VPS13B | c.8438T>G (p.Val2813Gly) n.8508T>G c.*4120T>G (n.*4120T>G) c.8363T>G (p.Val2788Gly) c.8435T>G (p.Val2812Gly) c.8360T>G (p.Val2787Gly) c.8060T>G (p.Val2687Gly) c.5324T>G (p.Val1775Gly) c.4217T>G (p.Val1406Gly) c.8243T>G (p.Val2748Gly) c.3995T>G (p.Val1332Gly) c.7223T>G (p.Val2408Gly) | |
| 8 | g.99818453G>A | CA462457373 | VPS13B | c.8439G>A (p.Val2813=) n.8509G>A c.*4121G>A (n.*4121G>A) c.8364G>A (p.Val2788=) c.8436G>A (p.Val2812=) c.8361G>A (p.Val2787=) c.8061G>A (p.Val2687=) c.5325G>A (p.Val1775=) c.4218G>A (p.Val1406=) c.8244G>A (p.Val2748=) c.3996G>A (p.Val1332=) c.7224G>A (p.Val2408=) | |
| 8 | g.99818453G>C | CA462457375 | VPS13B | c.8439G>C (p.Val2813=) n.8509G>C c.*4121G>C (n.*4121G>C) c.8364G>C (p.Val2788=) c.8436G>C (p.Val2812=) c.8361G>C (p.Val2787=) c.8061G>C (p.Val2687=) c.5325G>C (p.Val1775=) c.4218G>C (p.Val1406=) c.8244G>C (p.Val2748=) c.3996G>C (p.Val1332=) c.7224G>C (p.Val2408=) | |
| 8 | g.99818453G>T | CA462457376 | VPS13B | c.8439G>T (p.Val2813=) n.8509G>T c.*4121G>T (n.*4121G>T) c.8364G>T (p.Val2788=) c.8436G>T (p.Val2812=) c.8361G>T (p.Val2787=) c.8061G>T (p.Val2687=) c.5325G>T (p.Val1775=) c.4218G>T (p.Val1406=) c.8244G>T (p.Val2748=) c.3996G>T (p.Val1332=) c.7224G>T (p.Val2408=) | |
| 8 | g.99818454C>A | CA371773552 | VPS13B | c.8440C>A (p.Pro2814Thr) n.8510C>A c.*4122C>A (n.*4122C>A) c.8365C>A (p.Pro2789Thr) c.8437C>A (p.Pro2813Thr) c.8362C>A (p.Pro2788Thr) c.8062C>A (p.Pro2688Thr) c.5326C>A (p.Pro1776Thr) c.4219C>A (p.Pro1407Thr) c.8245C>A (p.Pro2749Thr) c.3997C>A (p.Pro1333Thr) c.7225C>A (p.Pro2409Thr) | |
| 8 | g.99818454C>G | CA371773553 | VPS13B | c.8440C>G (p.Pro2814Ala) n.8510C>G c.*4122C>G (n.*4122C>G) c.8365C>G (p.Pro2789Ala) c.8437C>G (p.Pro2813Ala) c.8362C>G (p.Pro2788Ala) c.8062C>G (p.Pro2688Ala) c.5326C>G (p.Pro1776Ala) c.4219C>G (p.Pro1407Ala) c.8245C>G (p.Pro2749Ala) c.3997C>G (p.Pro1333Ala) c.7225C>G (p.Pro2409Ala) | |
| 8 | g.99818454C>T | CA371773554 | VPS13B | c.8440C>T (p.Pro2814Ser) n.8510C>T c.*4122C>T (n.*4122C>T) c.8365C>T (p.Pro2789Ser) c.8437C>T (p.Pro2813Ser) c.8362C>T (p.Pro2788Ser) c.8062C>T (p.Pro2688Ser) c.5326C>T (p.Pro1776Ser) c.4219C>T (p.Pro1407Ser) c.8245C>T (p.Pro2749Ser) c.3997C>T (p.Pro1333Ser) c.7225C>T (p.Pro2409Ser) | ClinVar dbSNP COSMIC |
| 8 | g.99818455C>A | CA371773555 | VPS13B | c.8441C>A (p.Pro2814Gln) n.8511C>A c.*4123C>A (n.*4123C>A) c.8366C>A (p.Pro2789Gln) c.8438C>A (p.Pro2813Gln) c.8363C>A (p.Pro2788Gln) c.8063C>A (p.Pro2688Gln) c.5327C>A (p.Pro1776Gln) c.4220C>A (p.Pro1407Gln) c.8246C>A (p.Pro2749Gln) c.3998C>A (p.Pro1333Gln) c.7226C>A (p.Pro2409Gln) | |
| 8 | g.99818455C>G | CA371773556 | VPS13B | c.8441C>G (p.Pro2814Arg) n.8511C>G c.*4123C>G (n.*4123C>G) c.8366C>G (p.Pro2789Arg) c.8438C>G (p.Pro2813Arg) c.8363C>G (p.Pro2788Arg) c.8063C>G (p.Pro2688Arg) c.5327C>G (p.Pro1776Arg) c.4220C>G (p.Pro1407Arg) c.8246C>G (p.Pro2749Arg) c.3998C>G (p.Pro1333Arg) c.7226C>G (p.Pro2409Arg) | |
| 8 | g.99818455C>T | CA371773557 | VPS13B | c.8441C>T (p.Pro2814Leu) n.8511C>T c.*4123C>T (n.*4123C>T) c.8366C>T (p.Pro2789Leu) c.8438C>T (p.Pro2813Leu) c.8363C>T (p.Pro2788Leu) c.8063C>T (p.Pro2688Leu) c.5327C>T (p.Pro1776Leu) c.4220C>T (p.Pro1407Leu) c.8246C>T (p.Pro2749Leu) c.3998C>T (p.Pro1333Leu) c.7226C>T (p.Pro2409Leu) | |
| 8 | g.99818456A>C | CA462457380 | VPS13B | c.8442A>C (p.Pro2814=) n.8512A>C c.*4124A>C (n.*4124A>C) c.8367A>C (p.Pro2789=) c.8439A>C (p.Pro2813=) c.8364A>C (p.Pro2788=) c.8064A>C (p.Pro2688=) c.5328A>C (p.Pro1776=) c.4221A>C (p.Pro1407=) c.8247A>C (p.Pro2749=) c.3999A>C (p.Pro1333=) c.7227A>C (p.Pro2409=) | dbSNP |
| 8 | g.99818456A>G | CA462457381 | VPS13B | c.8442A>G (p.Pro2814=) n.8512A>G c.*4124A>G (n.*4124A>G) c.8367A>G (p.Pro2789=) c.8439A>G (p.Pro2813=) c.8364A>G (p.Pro2788=) c.8064A>G (p.Pro2688=) c.5328A>G (p.Pro1776=) c.4221A>G (p.Pro1407=) c.8247A>G (p.Pro2749=) c.3999A>G (p.Pro1333=) c.7227A>G (p.Pro2409=) | ClinVar gnomAD v4 |
| 8 | g.99818456A>T | CA462457383 | VPS13B | c.8442A>T (p.Pro2814=) n.8512A>T c.*4124A>T (n.*4124A>T) c.8367A>T (p.Pro2789=) c.8439A>T (p.Pro2813=) c.8364A>T (p.Pro2788=) c.8064A>T (p.Pro2688=) c.5328A>T (p.Pro1776=) c.4221A>T (p.Pro1407=) c.8247A>T (p.Pro2749=) c.3999A>T (p.Pro1333=) c.7227A>T (p.Pro2409=) | |
| 8 | g.99818457T>A | CA371773564 | VPS13B | c.8443T>A (p.Ser2815Thr) n.8513T>A c.*4125T>A (n.*4125T>A) c.8368T>A (p.Ser2790Thr) c.8440T>A (p.Ser2814Thr) c.8365T>A (p.Ser2789Thr) c.8065T>A (p.Ser2689Thr) c.5329T>A (p.Ser1777Thr) c.4222T>A (p.Ser1408Thr) c.8248T>A (p.Ser2750Thr) c.4000T>A (p.Ser1334Thr) c.7228T>A (p.Ser2410Thr) | |
| 8 | g.99818457T>C | CA371773566 | VPS13B | c.8443T>C (p.Ser2815Pro) n.8513T>C c.*4125T>C (n.*4125T>C) c.8368T>C (p.Ser2790Pro) c.8440T>C (p.Ser2814Pro) c.8365T>C (p.Ser2789Pro) c.8065T>C (p.Ser2689Pro) c.5329T>C (p.Ser1777Pro) c.4222T>C (p.Ser1408Pro) c.8248T>C (p.Ser2750Pro) c.4000T>C (p.Ser1334Pro) c.7228T>C (p.Ser2410Pro) | |
| 8 | g.99818457T>G | CA371773562 | VPS13B | c.8443T>G (p.Ser2815Ala) n.8513T>G c.*4125T>G (n.*4125T>G) c.8368T>G (p.Ser2790Ala) c.8440T>G (p.Ser2814Ala) c.8365T>G (p.Ser2789Ala) c.8065T>G (p.Ser2689Ala) c.5329T>G (p.Ser1777Ala) c.4222T>G (p.Ser1408Ala) c.8248T>G (p.Ser2750Ala) c.4000T>G (p.Ser1334Ala) c.7228T>G (p.Ser2410Ala) | |
| 8 | g.99818458C>A | CA371773573 | VPS13B | c.8444C>A (p.Ser2815Tyr) n.8514C>A c.*4126C>A (n.*4126C>A) c.8369C>A (p.Ser2790Tyr) c.8441C>A (p.Ser2814Tyr) c.8366C>A (p.Ser2789Tyr) c.8066C>A (p.Ser2689Tyr) c.5330C>A (p.Ser1777Tyr) c.4223C>A (p.Ser1408Tyr) c.8249C>A (p.Ser2750Tyr) c.4001C>A (p.Ser1334Tyr) c.7229C>A (p.Ser2410Tyr) | |
| 8 | g.99818458C>G | CA371773569 | VPS13B | c.8444C>G (p.Ser2815Cys) n.8514C>G c.*4126C>G (n.*4126C>G) c.8369C>G (p.Ser2790Cys) c.8441C>G (p.Ser2814Cys) c.8366C>G (p.Ser2789Cys) c.8066C>G (p.Ser2689Cys) c.5330C>G (p.Ser1777Cys) c.4223C>G (p.Ser1408Cys) c.8249C>G (p.Ser2750Cys) c.4001C>G (p.Ser1334Cys) c.7229C>G (p.Ser2410Cys) | |
| 8 | g.99818458C>T | CA371773572 | VPS13B | c.8444C>T (p.Ser2815Phe) n.8514C>T c.*4126C>T (n.*4126C>T) c.8369C>T (p.Ser2790Phe) c.8441C>T (p.Ser2814Phe) c.8366C>T (p.Ser2789Phe) c.8066C>T (p.Ser2689Phe) c.5330C>T (p.Ser1777Phe) c.4223C>T (p.Ser1408Phe) c.8249C>T (p.Ser2750Phe) c.4001C>T (p.Ser1334Phe) c.7229C>T (p.Ser2410Phe) | ClinVar COSMIC COSMIC |
| 8 | g.99818459T>A | CA462457386 | VPS13B | c.8445T>A (p.Ser2815=) n.8515T>A c.*4127T>A (n.*4127T>A) c.8370T>A (p.Ser2790=) c.8442T>A (p.Ser2814=) c.8367T>A (p.Ser2789=) c.8067T>A (p.Ser2689=) c.5331T>A (p.Ser1777=) c.4224T>A (p.Ser1408=) c.8250T>A (p.Ser2750=) c.4002T>A (p.Ser1334=) c.7230T>A (p.Ser2410=) | |
| 8 | g.99818459T>C | CA462457387 | VPS13B | c.8445T>C (p.Ser2815=) n.8515T>C c.*4127T>C (n.*4127T>C) c.8370T>C (p.Ser2790=) c.8442T>C (p.Ser2814=) c.8367T>C (p.Ser2789=) c.8067T>C (p.Ser2689=) c.5331T>C (p.Ser1777=) c.4224T>C (p.Ser1408=) c.8250T>C (p.Ser2750=) c.4002T>C (p.Ser1334=) c.7230T>C (p.Ser2410=) | |
| 8 | g.99818459T>G | CA462457388 | VPS13B | c.8445T>G (p.Ser2815=) n.8515T>G c.*4127T>G (n.*4127T>G) c.8370T>G (p.Ser2790=) c.8442T>G (p.Ser2814=) c.8367T>G (p.Ser2789=) c.8067T>G (p.Ser2689=) c.5331T>G (p.Ser1777=) c.4224T>G (p.Ser1408=) c.8250T>G (p.Ser2750=) c.4002T>G (p.Ser1334=) c.7230T>G (p.Ser2410=) | |
| 8 | g.99818460T>A | CA371773579 | VPS13B | c.8446T>A (p.Ser2816Thr) n.8516T>A c.*4128T>A (n.*4128T>A) c.8371T>A (p.Ser2791Thr) c.8443T>A (p.Ser2815Thr) c.8368T>A (p.Ser2790Thr) c.8068T>A (p.Ser2690Thr) c.5332T>A (p.Ser1778Thr) c.4225T>A (p.Ser1409Thr) c.8251T>A (p.Ser2751Thr) c.4003T>A (p.Ser1335Thr) c.7231T>A (p.Ser2411Thr) | |
| 8 | g.99818460T>C | CA371773581 | VPS13B | c.8446T>C (p.Ser2816Pro) n.8516T>C c.*4128T>C (n.*4128T>C) c.8371T>C (p.Ser2791Pro) c.8443T>C (p.Ser2815Pro) c.8368T>C (p.Ser2790Pro) c.8068T>C (p.Ser2690Pro) c.5332T>C (p.Ser1778Pro) c.4225T>C (p.Ser1409Pro) c.8251T>C (p.Ser2751Pro) c.4003T>C (p.Ser1335Pro) c.7231T>C (p.Ser2411Pro) | |
| 8 | g.99818460T>G | CA371773582 | VPS13B | c.8446T>G (p.Ser2816Ala) n.8516T>G c.*4128T>G (n.*4128T>G) c.8371T>G (p.Ser2791Ala) c.8443T>G (p.Ser2815Ala) c.8368T>G (p.Ser2790Ala) c.8068T>G (p.Ser2690Ala) c.5332T>G (p.Ser1778Ala) c.4225T>G (p.Ser1409Ala) c.8251T>G (p.Ser2751Ala) c.4003T>G (p.Ser1335Ala) c.7231T>G (p.Ser2411Ala) | |
| 8 | g.99818461C>A | CA371773586 | VPS13B | c.8447C>A (p.Ser2816Ter) n.8517C>A c.*4129C>A (n.*4129C>A) c.8372C>A (p.Ser2791Ter) c.8444C>A (p.Ser2815Ter) c.8369C>A (p.Ser2790Ter) c.8069C>A (p.Ser2690Ter) c.5333C>A (p.Ser1778Ter) c.4226C>A (p.Ser1409Ter) c.8252C>A (p.Ser2751Ter) c.4004C>A (p.Ser1335Ter) c.7232C>A (p.Ser2411Ter) | |
| 8 | g.99818461C>G | CA371773589 | VPS13B | c.8447C>G (p.Ser2816Ter) n.8517C>G c.*4129C>G (n.*4129C>G) c.8372C>G (p.Ser2791Ter) c.8444C>G (p.Ser2815Ter) c.8369C>G (p.Ser2790Ter) c.8069C>G (p.Ser2690Ter) c.5333C>G (p.Ser1778Ter) c.4226C>G (p.Ser1409Ter) c.8252C>G (p.Ser2751Ter) c.4004C>G (p.Ser1335Ter) c.7232C>G (p.Ser2411Ter) | |
| 8 | g.99818461C>T | CA371773591 | VPS13B | c.8447C>T (p.Ser2816Leu) n.8517C>T c.*4129C>T (n.*4129C>T) c.8372C>T (p.Ser2791Leu) c.8444C>T (p.Ser2815Leu) c.8369C>T (p.Ser2790Leu) c.8069C>T (p.Ser2690Leu) c.5333C>T (p.Ser1778Leu) c.4226C>T (p.Ser1409Leu) c.8252C>T (p.Ser2751Leu) c.4004C>T (p.Ser1335Leu) c.7232C>T (p.Ser2411Leu) | |
| 8 | g.99818462A>C | CA462457393 | VPS13B | c.8448A>C (p.Ser2816=) n.8518A>C c.*4130A>C (n.*4130A>C) c.8373A>C (p.Ser2791=) c.8445A>C (p.Ser2815=) c.8370A>C (p.Ser2790=) c.8070A>C (p.Ser2690=) c.5334A>C (p.Ser1778=) c.4227A>C (p.Ser1409=) c.8253A>C (p.Ser2751=) c.4005A>C (p.Ser1335=) c.7233A>C (p.Ser2411=) | |
| 8 | g.99818462A>G | CA462457395 | VPS13B | c.8448A>G (p.Ser2816=) n.8518A>G c.*4130A>G (n.*4130A>G) c.8373A>G (p.Ser2791=) c.8445A>G (p.Ser2815=) c.8370A>G (p.Ser2790=) c.8070A>G (p.Ser2690=) c.5334A>G (p.Ser1778=) c.4227A>G (p.Ser1409=) c.8253A>G (p.Ser2751=) c.4005A>G (p.Ser1335=) c.7233A>G (p.Ser2411=) | |
| 8 | g.99818462A>T | CA462457396 | VPS13B | c.8448A>T (p.Ser2816=) n.8518A>T c.*4130A>T (n.*4130A>T) c.8373A>T (p.Ser2791=) c.8445A>T (p.Ser2815=) c.8370A>T (p.Ser2790=) c.8070A>T (p.Ser2690=) c.5334A>T (p.Ser1778=) c.4227A>T (p.Ser1409=) c.8253A>T (p.Ser2751=) c.4005A>T (p.Ser1335=) c.7233A>T (p.Ser2411=) | |
| 8 | g.99818463A>C | CA371773593 | VPS13B | c.8449A>C (p.Asn2817His) n.8519A>C c.*4131A>C (n.*4131A>C) c.8374A>C (p.Asn2792His) c.8446A>C (p.Asn2816His) c.8371A>C (p.Asn2791His) c.8071A>C (p.Asn2691His) c.5335A>C (p.Asn1779His) c.4228A>C (p.Asn1410His) c.8254A>C (p.Asn2752His) c.4006A>C (p.Asn1336His) c.7234A>C (p.Asn2412His) | |
| 8 | g.99818463A>G | CA371773595 | VPS13B | c.8449A>G (p.Asn2817Asp) n.8519A>G c.*4131A>G (n.*4131A>G) c.8374A>G (p.Asn2792Asp) c.8446A>G (p.Asn2816Asp) c.8371A>G (p.Asn2791Asp) c.8071A>G (p.Asn2691Asp) c.5335A>G (p.Asn1779Asp) c.4228A>G (p.Asn1410Asp) c.8254A>G (p.Asn2752Asp) c.4006A>G (p.Asn1336Asp) c.7234A>G (p.Asn2412Asp) | |
| 8 | g.99818463A>T | CA4824440 | VPS13B | c.8449A>T (p.Asn2817Tyr) n.8519A>T c.*4131A>T (n.*4131A>T) c.8374A>T (p.Asn2792Tyr) c.8446A>T (p.Asn2816Tyr) c.8371A>T (p.Asn2791Tyr) c.8071A>T (p.Asn2691Tyr) c.5335A>T (p.Asn1779Tyr) c.4228A>T (p.Asn1410Tyr) c.8254A>T (p.Asn2752Tyr) c.4006A>T (p.Asn1336Tyr) c.7234A>T (p.Asn2412Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818464A>C | CA371773596 | VPS13B | c.8450A>C (p.Asn2817Thr) n.8520A>C c.*4132A>C (n.*4132A>C) c.8375A>C (p.Asn2792Thr) c.8447A>C (p.Asn2816Thr) c.8372A>C (p.Asn2791Thr) c.8072A>C (p.Asn2691Thr) c.5336A>C (p.Asn1779Thr) c.4229A>C (p.Asn1410Thr) c.8255A>C (p.Asn2752Thr) c.4007A>C (p.Asn1336Thr) c.7235A>C (p.Asn2412Thr) | |
| 8 | g.99818464A>G | CA371773598 | VPS13B | c.8450A>G (p.Asn2817Ser) n.8520A>G c.*4132A>G (n.*4132A>G) c.8375A>G (p.Asn2792Ser) c.8447A>G (p.Asn2816Ser) c.8372A>G (p.Asn2791Ser) c.8072A>G (p.Asn2691Ser) c.5336A>G (p.Asn1779Ser) c.4229A>G (p.Asn1410Ser) c.8255A>G (p.Asn2752Ser) c.4007A>G (p.Asn1336Ser) c.7235A>G (p.Asn2412Ser) | |
| 8 | g.99818464A>T | CA371773599 | VPS13B | c.8450A>T (p.Asn2817Ile) n.8520A>T c.*4132A>T (n.*4132A>T) c.8375A>T (p.Asn2792Ile) c.8447A>T (p.Asn2816Ile) c.8372A>T (p.Asn2791Ile) c.8072A>T (p.Asn2691Ile) c.5336A>T (p.Asn1779Ile) c.4229A>T (p.Asn1410Ile) c.8255A>T (p.Asn2752Ile) c.4007A>T (p.Asn1336Ile) c.7235A>T (p.Asn2412Ile) | |
| 8 | g.99818465C>A | CA371773600 | VPS13B | c.8451C>A (p.Asn2817Lys) n.8521C>A c.*4133C>A (n.*4133C>A) c.8376C>A (p.Asn2792Lys) c.8448C>A (p.Asn2816Lys) c.8373C>A (p.Asn2791Lys) c.8073C>A (p.Asn2691Lys) c.5337C>A (p.Asn1779Lys) c.4230C>A (p.Asn1410Lys) c.8256C>A (p.Asn2752Lys) c.4008C>A (p.Asn1336Lys) c.7236C>A (p.Asn2412Lys) | |
| 8 | g.99818465C>G | CA371773601 | VPS13B | c.8451C>G (p.Asn2817Lys) n.8521C>G c.*4133C>G (n.*4133C>G) c.8376C>G (p.Asn2792Lys) c.8448C>G (p.Asn2816Lys) c.8373C>G (p.Asn2791Lys) c.8073C>G (p.Asn2691Lys) c.5337C>G (p.Asn1779Lys) c.4230C>G (p.Asn1410Lys) c.8256C>G (p.Asn2752Lys) c.4008C>G (p.Asn1336Lys) c.7236C>G (p.Asn2412Lys) | |
| 8 | g.99818465C>T | CA462457400 | VPS13B | c.8451C>T (p.Asn2817=) n.8521C>T c.*4133C>T (n.*4133C>T) c.8376C>T (p.Asn2792=) c.8448C>T (p.Asn2816=) c.8373C>T (p.Asn2791=) c.8073C>T (p.Asn2691=) c.5337C>T (p.Asn1779=) c.4230C>T (p.Asn1410=) c.8256C>T (p.Asn2752=) c.4008C>T (p.Asn1336=) c.7236C>T (p.Asn2412=) | |
| 8 | g.99818466A>C | CA371773602 | VPS13B | c.8452A>C (p.Ser2818Arg) n.8522A>C c.*4134A>C (n.*4134A>C) c.8377A>C (p.Ser2793Arg) c.8449A>C (p.Ser2817Arg) c.8374A>C (p.Ser2792Arg) c.8074A>C (p.Ser2692Arg) c.5338A>C (p.Ser1780Arg) c.4231A>C (p.Ser1411Arg) c.8257A>C (p.Ser2753Arg) c.4009A>C (p.Ser1337Arg) c.7237A>C (p.Ser2413Arg) | gnomAD v4 |
| 8 | g.99818466A>G | CA371773604 | VPS13B | c.8452A>G (p.Ser2818Gly) n.8522A>G c.*4134A>G (n.*4134A>G) c.8377A>G (p.Ser2793Gly) c.8449A>G (p.Ser2817Gly) c.8374A>G (p.Ser2792Gly) c.8074A>G (p.Ser2692Gly) c.5338A>G (p.Ser1780Gly) c.4231A>G (p.Ser1411Gly) c.8257A>G (p.Ser2753Gly) c.4009A>G (p.Ser1337Gly) c.7237A>G (p.Ser2413Gly) | dbSNP |
| 8 | g.99818466A>T | CA371773606 | VPS13B | c.8452A>T (p.Ser2818Cys) n.8522A>T c.*4134A>T (n.*4134A>T) c.8377A>T (p.Ser2793Cys) c.8449A>T (p.Ser2817Cys) c.8374A>T (p.Ser2792Cys) c.8074A>T (p.Ser2692Cys) c.5338A>T (p.Ser1780Cys) c.4231A>T (p.Ser1411Cys) c.8257A>T (p.Ser2753Cys) c.4009A>T (p.Ser1337Cys) c.7237A>T (p.Ser2413Cys) | |
| 8 | g.99818467G>A | CA371773607 | VPS13B | c.8453G>A (p.Ser2818Asn) n.8523G>A c.*4135G>A (n.*4135G>A) c.8378G>A (p.Ser2793Asn) c.8450G>A (p.Ser2817Asn) c.8375G>A (p.Ser2792Asn) c.8075G>A (p.Ser2692Asn) c.5339G>A (p.Ser1780Asn) c.4232G>A (p.Ser1411Asn) c.8258G>A (p.Ser2753Asn) c.4010G>A (p.Ser1337Asn) c.7238G>A (p.Ser2413Asn) | |
| 8 | g.99818467G>C | CA371773609 | VPS13B | c.8453G>C (p.Ser2818Thr) n.8523G>C c.*4135G>C (n.*4135G>C) c.8378G>C (p.Ser2793Thr) c.8450G>C (p.Ser2817Thr) c.8375G>C (p.Ser2792Thr) c.8075G>C (p.Ser2692Thr) c.5339G>C (p.Ser1780Thr) c.4232G>C (p.Ser1411Thr) c.8258G>C (p.Ser2753Thr) c.4010G>C (p.Ser1337Thr) c.7238G>C (p.Ser2413Thr) | |
| 8 | g.99818467G>T | CA371773611 | VPS13B | c.8453G>T (p.Ser2818Ile) n.8523G>T c.*4135G>T (n.*4135G>T) c.8378G>T (p.Ser2793Ile) c.8450G>T (p.Ser2817Ile) c.8375G>T (p.Ser2792Ile) c.8075G>T (p.Ser2692Ile) c.5339G>T (p.Ser1780Ile) c.4232G>T (p.Ser1411Ile) c.8258G>T (p.Ser2753Ile) c.4010G>T (p.Ser1337Ile) c.7238G>T (p.Ser2413Ile) | gnomAD v4 |
| 8 | g.99818468T>A | CA371773614 | VPS13B | c.8454T>A (p.Ser2818Arg) n.8524T>A c.*4136T>A (n.*4136T>A) c.8379T>A (p.Ser2793Arg) c.8451T>A (p.Ser2817Arg) c.8376T>A (p.Ser2792Arg) c.8076T>A (p.Ser2692Arg) c.5340T>A (p.Ser1780Arg) c.4233T>A (p.Ser1411Arg) c.8259T>A (p.Ser2753Arg) c.4011T>A (p.Ser1337Arg) c.7239T>A (p.Ser2413Arg) | |
| 8 | g.99818468T>C | CA462457404 | VPS13B | c.8454T>C (p.Ser2818=) n.8524T>C c.*4136T>C (n.*4136T>C) c.8379T>C (p.Ser2793=) c.8451T>C (p.Ser2817=) c.8376T>C (p.Ser2792=) c.8076T>C (p.Ser2692=) c.5340T>C (p.Ser1780=) c.4233T>C (p.Ser1411=) c.8259T>C (p.Ser2753=) c.4011T>C (p.Ser1337=) c.7239T>C (p.Ser2413=) | |
| 8 | g.99818468T>G | CA371773616 | VPS13B | c.8454T>G (p.Ser2818Arg) n.8524T>G c.*4136T>G (n.*4136T>G) c.8379T>G (p.Ser2793Arg) c.8451T>G (p.Ser2817Arg) c.8376T>G (p.Ser2792Arg) c.8076T>G (p.Ser2692Arg) c.5340T>G (p.Ser1780Arg) c.4233T>G (p.Ser1411Arg) c.8259T>G (p.Ser2753Arg) c.4011T>G (p.Ser1337Arg) c.7239T>G (p.Ser2413Arg) | |
| 8 | g.99818469T>A | CA371773617 | VPS13B | c.8455T>A (p.Ser2819Thr) n.8525T>A c.*4137T>A (n.*4137T>A) c.8380T>A (p.Ser2794Thr) c.8452T>A (p.Ser2818Thr) c.8377T>A (p.Ser2793Thr) c.8077T>A (p.Ser2693Thr) c.5341T>A (p.Ser1781Thr) c.4234T>A (p.Ser1412Thr) c.8260T>A (p.Ser2754Thr) c.4012T>A (p.Ser1338Thr) c.7240T>A (p.Ser2414Thr) | |
| 8 | g.99818469T>C | CA371773619 | VPS13B | c.8455T>C (p.Ser2819Pro) n.8525T>C c.*4137T>C (n.*4137T>C) c.8380T>C (p.Ser2794Pro) c.8452T>C (p.Ser2818Pro) c.8377T>C (p.Ser2793Pro) c.8077T>C (p.Ser2693Pro) c.5341T>C (p.Ser1781Pro) c.4234T>C (p.Ser1412Pro) c.8260T>C (p.Ser2754Pro) c.4012T>C (p.Ser1338Pro) c.7240T>C (p.Ser2414Pro) | |
| 8 | g.99818469T>G | CA371773621 | VPS13B | c.8455T>G (p.Ser2819Ala) n.8525T>G c.*4137T>G (n.*4137T>G) c.8380T>G (p.Ser2794Ala) c.8452T>G (p.Ser2818Ala) c.8377T>G (p.Ser2793Ala) c.8077T>G (p.Ser2693Ala) c.5341T>G (p.Ser1781Ala) c.4234T>G (p.Ser1412Ala) c.8260T>G (p.Ser2754Ala) c.4012T>G (p.Ser1338Ala) c.7240T>G (p.Ser2414Ala) | |
| 8 | g.99818469_99818470insTTTATG | CA2688069428 | VPS13B | c.8455_8456insTTTATG (p.Ser2819delinsPheTyrAla) n.8525_8526insTTTATG c.*4137_*4138insTTTATG (n.*4137_*4138insTTTATG) c.8380_8381insTTTATG (p.Ser2794delinsPheTyrAla) c.8452_8453insTTTATG (p.Ser2818delinsPheTyrAla) c.8377_8378insTTTATG (p.Ser2793delinsPheTyrAla) c.8077_8078insTTTATG (p.Ser2693delinsPheTyrAla) c.5341_5342insTTTATG (p.Ser1781delinsPheTyrAla) c.4234_4235insTTTATG (p.Ser1412delinsPheTyrAla) c.8260_8261insTTTATG (p.Ser2754delinsPheTyrAla) c.4012_4013insTTTATG (p.Ser1338delinsPheTyrAla) c.7240_7241insTTTATG (p.Ser2414delinsPheTyrAla) | gnomAD v4 |
| 8 | g.99818470C>A | CA4824441 | VPS13B | c.8456C>A (p.Ser2819Tyr) n.8526C>A c.*4138C>A (n.*4138C>A) c.8381C>A (p.Ser2794Tyr) c.8453C>A (p.Ser2818Tyr) c.8378C>A (p.Ser2793Tyr) c.8078C>A (p.Ser2693Tyr) c.5342C>A (p.Ser1781Tyr) c.4235C>A (p.Ser1412Tyr) c.8261C>A (p.Ser2754Tyr) c.4013C>A (p.Ser1338Tyr) c.7241C>A (p.Ser2414Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818470C>G | CA371773624 | VPS13B | c.8456C>G (p.Ser2819Cys) n.8526C>G c.*4138C>G (n.*4138C>G) c.8381C>G (p.Ser2794Cys) c.8453C>G (p.Ser2818Cys) c.8378C>G (p.Ser2793Cys) c.8078C>G (p.Ser2693Cys) c.5342C>G (p.Ser1781Cys) c.4235C>G (p.Ser1412Cys) c.8261C>G (p.Ser2754Cys) c.4013C>G (p.Ser1338Cys) c.7241C>G (p.Ser2414Cys) | |
| 8 | g.99818470C>T | CA371773622 | VPS13B | c.8456C>T (p.Ser2819Phe) n.8526C>T c.*4138C>T (n.*4138C>T) c.8381C>T (p.Ser2794Phe) c.8453C>T (p.Ser2818Phe) c.8378C>T (p.Ser2793Phe) c.8078C>T (p.Ser2693Phe) c.5342C>T (p.Ser1781Phe) c.4235C>T (p.Ser1412Phe) c.8261C>T (p.Ser2754Phe) c.4013C>T (p.Ser1338Phe) c.7241C>T (p.Ser2414Phe) | |
| 8 | g.99818471C>A | CA462457408 | VPS13B | c.8457C>A (p.Ser2819=) n.8527C>A c.*4139C>A (n.*4139C>A) c.8382C>A (p.Ser2794=) c.8454C>A (p.Ser2818=) c.8379C>A (p.Ser2793=) c.8079C>A (p.Ser2693=) c.5343C>A (p.Ser1781=) c.4236C>A (p.Ser1412=) c.8262C>A (p.Ser2754=) c.4014C>A (p.Ser1338=) c.7242C>A (p.Ser2414=) | |
| 8 | g.99818471C>G | CA462457410 | VPS13B | c.8457C>G (p.Ser2819=) n.8527C>G c.*4139C>G (n.*4139C>G) c.8382C>G (p.Ser2794=) c.8454C>G (p.Ser2818=) c.8379C>G (p.Ser2793=) c.8079C>G (p.Ser2693=) c.5343C>G (p.Ser1781=) c.4236C>G (p.Ser1412=) c.8262C>G (p.Ser2754=) c.4014C>G (p.Ser1338=) c.7242C>G (p.Ser2414=) | ClinVar dbSNP |
| 8 | g.99818471C>T | CA462457411 | VPS13B | c.8457C>T (p.Ser2819=) n.8527C>T c.*4139C>T (n.*4139C>T) c.8382C>T (p.Ser2794=) c.8454C>T (p.Ser2818=) c.8379C>T (p.Ser2793=) c.8079C>T (p.Ser2693=) c.5343C>T (p.Ser1781=) c.4236C>T (p.Ser1412=) c.8262C>T (p.Ser2754=) c.4014C>T (p.Ser1338=) c.7242C>T (p.Ser2414=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818472A>C | CA371773627 | VPS13B | c.8458A>C (p.Ile2820Leu) n.8528A>C c.*4140A>C (n.*4140A>C) c.8383A>C (p.Ile2795Leu) c.8455A>C (p.Ile2819Leu) c.8380A>C (p.Ile2794Leu) c.8080A>C (p.Ile2694Leu) c.5344A>C (p.Ile1782Leu) c.4237A>C (p.Ile1413Leu) c.8263A>C (p.Ile2755Leu) c.4015A>C (p.Ile1339Leu) c.7243A>C (p.Ile2415Leu) | |
| 8 | g.99818472A>G | CA182327904 | VPS13B | c.8458A>G (p.Ile2820Val) n.8528A>G c.*4140A>G (n.*4140A>G) c.8383A>G (p.Ile2795Val) c.8455A>G (p.Ile2819Val) c.8380A>G (p.Ile2794Val) c.8080A>G (p.Ile2694Val) c.5344A>G (p.Ile1782Val) c.4237A>G (p.Ile1413Val) c.8263A>G (p.Ile2755Val) c.4015A>G (p.Ile1339Val) c.7243A>G (p.Ile2415Val) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99818472A>T | CA371773634 | VPS13B | c.8458A>T (p.Ile2820Phe) n.8528A>T c.*4140A>T (n.*4140A>T) c.8383A>T (p.Ile2795Phe) c.8455A>T (p.Ile2819Phe) c.8380A>T (p.Ile2794Phe) c.8080A>T (p.Ile2694Phe) c.5344A>T (p.Ile1782Phe) c.4237A>T (p.Ile1413Phe) c.8263A>T (p.Ile2755Phe) c.4015A>T (p.Ile1339Phe) c.7243A>T (p.Ile2415Phe) | |
| 8 | g.99818473T>A | CA371773641 | VPS13B | c.8459T>A (p.Ile2820Asn) n.8529T>A c.*4141T>A (n.*4141T>A) c.8384T>A (p.Ile2795Asn) c.8456T>A (p.Ile2819Asn) c.8381T>A (p.Ile2794Asn) c.8081T>A (p.Ile2694Asn) c.5345T>A (p.Ile1782Asn) c.4238T>A (p.Ile1413Asn) c.8264T>A (p.Ile2755Asn) c.4016T>A (p.Ile1339Asn) c.7244T>A (p.Ile2415Asn) | |
| 8 | g.99818473T>C | CA252457 | VPS13B | c.8459T>C (p.Ile2820Thr) n.8529T>C c.*4141T>C (n.*4141T>C) c.8384T>C (p.Ile2795Thr) c.8456T>C (p.Ile2819Thr) c.8381T>C (p.Ile2794Thr) c.8081T>C (p.Ile2694Thr) c.5345T>C (p.Ile1782Thr) c.4238T>C (p.Ile1413Thr) c.8264T>C (p.Ile2755Thr) c.4016T>C (p.Ile1339Thr) c.7244T>C (p.Ile2415Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99818473T>G | CA371773643 | VPS13B | c.8459T>G (p.Ile2820Ser) n.8529T>G c.*4141T>G (n.*4141T>G) c.8384T>G (p.Ile2795Ser) c.8456T>G (p.Ile2819Ser) c.8381T>G (p.Ile2794Ser) c.8081T>G (p.Ile2694Ser) c.5345T>G (p.Ile1782Ser) c.4238T>G (p.Ile1413Ser) c.8264T>G (p.Ile2755Ser) c.4016T>G (p.Ile1339Ser) c.7244T>G (p.Ile2415Ser) | |
| 8 | g.99818474T>A | CA462457416 | VPS13B | c.8460T>A (p.Ile2820=) n.8530T>A c.*4142T>A (n.*4142T>A) c.8385T>A (p.Ile2795=) c.8457T>A (p.Ile2819=) c.8382T>A (p.Ile2794=) c.8082T>A (p.Ile2694=) c.5346T>A (p.Ile1782=) c.4239T>A (p.Ile1413=) c.8265T>A (p.Ile2755=) c.4017T>A (p.Ile1339=) c.7245T>A (p.Ile2415=) | |
| 8 | g.99818474T>C | CA462457417 | VPS13B | c.8460T>C (p.Ile2820=) n.8530T>C c.*4142T>C (n.*4142T>C) c.8385T>C (p.Ile2795=) c.8457T>C (p.Ile2819=) c.8382T>C (p.Ile2794=) c.8082T>C (p.Ile2694=) c.5346T>C (p.Ile1782=) c.4239T>C (p.Ile1413=) c.8265T>C (p.Ile2755=) c.4017T>C (p.Ile1339=) c.7245T>C (p.Ile2415=) | |
| 8 | g.99818474T>G | CA371773645 | VPS13B | c.8460T>G (p.Ile2820Met) n.8530T>G c.*4142T>G (n.*4142T>G) c.8385T>G (p.Ile2795Met) c.8457T>G (p.Ile2819Met) c.8382T>G (p.Ile2794Met) c.8082T>G (p.Ile2694Met) c.5346T>G (p.Ile1782Met) c.4239T>G (p.Ile1413Met) c.8265T>G (p.Ile2755Met) c.4017T>G (p.Ile1339Met) c.7245T>G (p.Ile2415Met) | |
| 8 | g.99818475A>C | CA371773647 | VPS13B | c.8461A>C (p.Ile2821Leu) n.8531A>C c.*4143A>C (n.*4143A>C) c.8386A>C (p.Ile2796Leu) c.8458A>C (p.Ile2820Leu) c.8383A>C (p.Ile2795Leu) c.8083A>C (p.Ile2695Leu) c.5347A>C (p.Ile1783Leu) c.4240A>C (p.Ile1414Leu) c.8266A>C (p.Ile2756Leu) c.4018A>C (p.Ile1340Leu) c.7246A>C (p.Ile2416Leu) | |
| 8 | g.99818475A>G | CA4824442 | VPS13B | c.8461A>G (p.Ile2821Val) n.8531A>G c.*4143A>G (n.*4143A>G) c.8386A>G (p.Ile2796Val) c.8458A>G (p.Ile2820Val) c.8383A>G (p.Ile2795Val) c.8083A>G (p.Ile2695Val) c.5347A>G (p.Ile1783Val) c.4240A>G (p.Ile1414Val) c.8266A>G (p.Ile2756Val) c.4018A>G (p.Ile1340Val) c.7246A>G (p.Ile2416Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.99818475A>T | CA371773649 | VPS13B | c.8461A>T (p.Ile2821Phe) n.8531A>T c.*4143A>T (n.*4143A>T) c.8386A>T (p.Ile2796Phe) c.8458A>T (p.Ile2820Phe) c.8383A>T (p.Ile2795Phe) c.8083A>T (p.Ile2695Phe) c.5347A>T (p.Ile1783Phe) c.4240A>T (p.Ile1414Phe) c.8266A>T (p.Ile2756Phe) c.4018A>T (p.Ile1340Phe) c.7246A>T (p.Ile2416Phe) | gnomAD v4 |
| 8 | g.99818475dup | CA2697550095 | VPS13B | c.8461dup (p.Ile2821AsnfsTer?) n.8531dup c.*4143dup (n.*4143dup) c.8386dup (p.Ile2796AsnfsTer?) c.8458dup (p.Ile2820AsnfsTer?) c.8383dup (p.Ile2795AsnfsTer?) c.8083dup (p.Ile2695AsnfsTer?) c.5347dup (p.Ile1783AsnfsTer?) c.4240dup (p.Ile1414AsnfsTer?) c.8266dup (p.Ile2756AsnfsTer?) c.4018dup (p.Ile1340AsnfsTer?) c.7246dup (p.Ile2416AsnfsTer?) | ClinVar |
| 8 | g.99818476T>A | CA371773652 | VPS13B | c.8462T>A (p.Ile2821Asn) n.8532T>A c.*4144T>A (n.*4144T>A) c.8387T>A (p.Ile2796Asn) c.8459T>A (p.Ile2820Asn) c.8384T>A (p.Ile2795Asn) c.8084T>A (p.Ile2695Asn) c.5348T>A (p.Ile1783Asn) c.4241T>A (p.Ile1414Asn) c.8267T>A (p.Ile2756Asn) c.4019T>A (p.Ile1340Asn) c.7247T>A (p.Ile2416Asn) | |
| 8 | g.99818476T>C | CA371773655 | VPS13B | c.8462T>C (p.Ile2821Thr) n.8532T>C c.*4144T>C (n.*4144T>C) c.8387T>C (p.Ile2796Thr) c.8459T>C (p.Ile2820Thr) c.8384T>C (p.Ile2795Thr) c.8084T>C (p.Ile2695Thr) c.5348T>C (p.Ile1783Thr) c.4241T>C (p.Ile1414Thr) c.8267T>C (p.Ile2756Thr) c.4019T>C (p.Ile1340Thr) c.7247T>C (p.Ile2416Thr) | |
| 8 | g.99818476T>G | CA371773657 | VPS13B | c.8462T>G (p.Ile2821Ser) n.8532T>G c.*4144T>G (n.*4144T>G) c.8387T>G (p.Ile2796Ser) c.8459T>G (p.Ile2820Ser) c.8384T>G (p.Ile2795Ser) c.8084T>G (p.Ile2695Ser) c.5348T>G (p.Ile1783Ser) c.4241T>G (p.Ile1414Ser) c.8267T>G (p.Ile2756Ser) c.4019T>G (p.Ile1340Ser) c.7247T>G (p.Ile2416Ser) | |
| 8 | g.99818477T>A | CA462457418 | VPS13B | c.8463T>A (p.Ile2821=) n.8533T>A c.*4145T>A (n.*4145T>A) c.8388T>A (p.Ile2796=) c.8460T>A (p.Ile2820=) c.8385T>A (p.Ile2795=) c.8085T>A (p.Ile2695=) c.5349T>A (p.Ile1783=) c.4242T>A (p.Ile1414=) c.8268T>A (p.Ile2756=) c.4020T>A (p.Ile1340=) c.7248T>A (p.Ile2416=) | |
| 8 | g.99818477T>C | CA462457419 | VPS13B | c.8463T>C (p.Ile2821=) n.8533T>C c.*4145T>C (n.*4145T>C) c.8388T>C (p.Ile2796=) c.8460T>C (p.Ile2820=) c.8385T>C (p.Ile2795=) c.8085T>C (p.Ile2695=) c.5349T>C (p.Ile1783=) c.4242T>C (p.Ile1414=) c.8268T>C (p.Ile2756=) c.4020T>C (p.Ile1340=) c.7248T>C (p.Ile2416=) | |
| 8 | g.99818477T>G | CA371773659 | VPS13B | c.8463T>G (p.Ile2821Met) n.8533T>G c.*4145T>G (n.*4145T>G) c.8388T>G (p.Ile2796Met) c.8460T>G (p.Ile2820Met) c.8385T>G (p.Ile2795Met) c.8085T>G (p.Ile2695Met) c.5349T>G (p.Ile1783Met) c.4242T>G (p.Ile1414Met) c.8268T>G (p.Ile2756Met) c.4020T>G (p.Ile1340Met) c.7248T>G (p.Ile2416Met) | |
| 8 | g.99818478T>A | CA371773661 | VPS13B | c.8464T>A (p.Tyr2822Asn) n.8534T>A c.*4146T>A (n.*4146T>A) c.8389T>A (p.Tyr2797Asn) c.8461T>A (p.Tyr2821Asn) c.8386T>A (p.Tyr2796Asn) c.8086T>A (p.Tyr2696Asn) c.5350T>A (p.Tyr1784Asn) c.4243T>A (p.Tyr1415Asn) c.8269T>A (p.Tyr2757Asn) c.4021T>A (p.Tyr1341Asn) c.7249T>A (p.Tyr2417Asn) | |
| 8 | g.99818478T>C | CA371773665 | VPS13B | c.8464T>C (p.Tyr2822His) n.8534T>C c.*4146T>C (n.*4146T>C) c.8389T>C (p.Tyr2797His) c.8461T>C (p.Tyr2821His) c.8386T>C (p.Tyr2796His) c.8086T>C (p.Tyr2696His) c.5350T>C (p.Tyr1784His) c.4243T>C (p.Tyr1415His) c.8269T>C (p.Tyr2757His) c.4021T>C (p.Tyr1341His) c.7249T>C (p.Tyr2417His) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818478T>G | CA371773663 | VPS13B | c.8464T>G (p.Tyr2822Asp) n.8534T>G c.*4146T>G (n.*4146T>G) c.8389T>G (p.Tyr2797Asp) c.8461T>G (p.Tyr2821Asp) c.8386T>G (p.Tyr2796Asp) c.8086T>G (p.Tyr2696Asp) c.5350T>G (p.Tyr1784Asp) c.4243T>G (p.Tyr1415Asp) c.8269T>G (p.Tyr2757Asp) c.4021T>G (p.Tyr1341Asp) c.7249T>G (p.Tyr2417Asp) | |
| 8 | g.99818479A>C | CA371773667 | VPS13B | c.8465A>C (p.Tyr2822Ser) n.8535A>C c.*4147A>C (n.*4147A>C) c.8390A>C (p.Tyr2797Ser) c.8462A>C (p.Tyr2821Ser) c.8387A>C (p.Tyr2796Ser) c.8087A>C (p.Tyr2696Ser) c.5351A>C (p.Tyr1784Ser) c.4244A>C (p.Tyr1415Ser) c.8270A>C (p.Tyr2757Ser) c.4022A>C (p.Tyr1341Ser) c.7250A>C (p.Tyr2417Ser) | gnomAD v4 |
| 8 | g.99818479A>G | CA4824443 | VPS13B | c.8465A>G (p.Tyr2822Cys) n.8535A>G c.*4147A>G (n.*4147A>G) c.8390A>G (p.Tyr2797Cys) c.8462A>G (p.Tyr2821Cys) c.8387A>G (p.Tyr2796Cys) c.8087A>G (p.Tyr2696Cys) c.5351A>G (p.Tyr1784Cys) c.4244A>G (p.Tyr1415Cys) c.8270A>G (p.Tyr2757Cys) c.4022A>G (p.Tyr1341Cys) c.7250A>G (p.Tyr2417Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818479A>T | CA371773668 | VPS13B | c.8465A>T (p.Tyr2822Phe) n.8535A>T c.*4147A>T (n.*4147A>T) c.8390A>T (p.Tyr2797Phe) c.8462A>T (p.Tyr2821Phe) c.8387A>T (p.Tyr2796Phe) c.8087A>T (p.Tyr2696Phe) c.5351A>T (p.Tyr1784Phe) c.4244A>T (p.Tyr1415Phe) c.8270A>T (p.Tyr2757Phe) c.4022A>T (p.Tyr1341Phe) c.7250A>T (p.Tyr2417Phe) | |
| 8 | g.99818480T>A | CA371773669 | VPS13B | c.8466T>A (p.Tyr2822Ter) n.8536T>A c.*4148T>A (n.*4148T>A) c.8391T>A (p.Tyr2797Ter) c.8463T>A (p.Tyr2821Ter) c.8388T>A (p.Tyr2796Ter) c.8088T>A (p.Tyr2696Ter) c.5352T>A (p.Tyr1784Ter) c.4245T>A (p.Tyr1415Ter) c.8271T>A (p.Tyr2757Ter) c.4023T>A (p.Tyr1341Ter) c.7251T>A (p.Tyr2417Ter) | |
| 8 | g.99818480T>C | CA462457426 | VPS13B | c.8466T>C (p.Tyr2822=) n.8536T>C c.*4148T>C (n.*4148T>C) c.8391T>C (p.Tyr2797=) c.8463T>C (p.Tyr2821=) c.8388T>C (p.Tyr2796=) c.8088T>C (p.Tyr2696=) c.5352T>C (p.Tyr1784=) c.4245T>C (p.Tyr1415=) c.8271T>C (p.Tyr2757=) c.4023T>C (p.Tyr1341=) c.7251T>C (p.Tyr2417=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818480T>G | CA371773670 | VPS13B | c.8466T>G (p.Tyr2822Ter) n.8536T>G c.*4148T>G (n.*4148T>G) c.8391T>G (p.Tyr2797Ter) c.8463T>G (p.Tyr2821Ter) c.8388T>G (p.Tyr2796Ter) c.8088T>G (p.Tyr2696Ter) c.5352T>G (p.Tyr1784Ter) c.4245T>G (p.Tyr1415Ter) c.8271T>G (p.Tyr2757Ter) c.4023T>G (p.Tyr1341Ter) c.7251T>G (p.Tyr2417Ter) | |
| 8 | g.99818481G>A | CA371773671 | VPS13B | c.8467G>A (p.Val2823Ile) n.8537G>A c.*4149G>A (n.*4149G>A) c.8392G>A (p.Val2798Ile) c.8464G>A (p.Val2822Ile) c.8389G>A (p.Val2797Ile) c.8089G>A (p.Val2697Ile) c.5353G>A (p.Val1785Ile) c.4246G>A (p.Val1416Ile) c.8272G>A (p.Val2758Ile) c.4024G>A (p.Val1342Ile) c.7252G>A (p.Val2418Ile) | |
| 8 | g.99818481G>C | CA371773672 | VPS13B | c.8467G>C (p.Val2823Leu) n.8537G>C c.*4149G>C (n.*4149G>C) c.8392G>C (p.Val2798Leu) c.8464G>C (p.Val2822Leu) c.8389G>C (p.Val2797Leu) c.8089G>C (p.Val2697Leu) c.5353G>C (p.Val1785Leu) c.4246G>C (p.Val1416Leu) c.8272G>C (p.Val2758Leu) c.4024G>C (p.Val1342Leu) c.7252G>C (p.Val2418Leu) | |
| 8 | g.99818481G>T | CA371773673 | VPS13B | c.8467G>T (p.Val2823Phe) n.8537G>T c.*4149G>T (n.*4149G>T) c.8392G>T (p.Val2798Phe) c.8464G>T (p.Val2822Phe) c.8389G>T (p.Val2797Phe) c.8089G>T (p.Val2697Phe) c.5353G>T (p.Val1785Phe) c.4246G>T (p.Val1416Phe) c.8272G>T (p.Val2758Phe) c.4024G>T (p.Val1342Phe) c.7252G>T (p.Val2418Phe) | |
| 8 | g.99818482T>A | CA371773675 | VPS13B | c.8468T>A (p.Val2823Asp) n.8538T>A c.*4150T>A (n.*4150T>A) c.8393T>A (p.Val2798Asp) c.8465T>A (p.Val2822Asp) c.8390T>A (p.Val2797Asp) c.8090T>A (p.Val2697Asp) c.5354T>A (p.Val1785Asp) c.4247T>A (p.Val1416Asp) c.8273T>A (p.Val2758Asp) c.4025T>A (p.Val1342Asp) c.7253T>A (p.Val2418Asp) | |
| 8 | g.99818482T>C | CA371773676 | VPS13B | c.8468T>C (p.Val2823Ala) n.8538T>C c.*4150T>C (n.*4150T>C) c.8393T>C (p.Val2798Ala) c.8465T>C (p.Val2822Ala) c.8390T>C (p.Val2797Ala) c.8090T>C (p.Val2697Ala) c.5354T>C (p.Val1785Ala) c.4247T>C (p.Val1416Ala) c.8273T>C (p.Val2758Ala) c.4025T>C (p.Val1342Ala) c.7253T>C (p.Val2418Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818482T>G | CA371773677 | VPS13B | c.8468T>G (p.Val2823Gly) n.8538T>G c.*4150T>G (n.*4150T>G) c.8393T>G (p.Val2798Gly) c.8465T>G (p.Val2822Gly) c.8390T>G (p.Val2797Gly) c.8090T>G (p.Val2697Gly) c.5354T>G (p.Val1785Gly) c.4247T>G (p.Val1416Gly) c.8273T>G (p.Val2758Gly) c.4025T>G (p.Val1342Gly) c.7253T>G (p.Val2418Gly) | gnomAD v4 |
| 8 | g.99818483C>A | CA462457430 | VPS13B | c.8469C>A (p.Val2823=) n.8539C>A c.*4151C>A (n.*4151C>A) c.8394C>A (p.Val2798=) c.8466C>A (p.Val2822=) c.8391C>A (p.Val2797=) c.8091C>A (p.Val2697=) c.5355C>A (p.Val1785=) c.4248C>A (p.Val1416=) c.8274C>A (p.Val2758=) c.4026C>A (p.Val1342=) c.7254C>A (p.Val2418=) | ClinVar |
| 8 | g.99818483C>G | CA462457431 | VPS13B | c.8469C>G (p.Val2823=) n.8539C>G c.*4151C>G (n.*4151C>G) c.8394C>G (p.Val2798=) c.8466C>G (p.Val2822=) c.8391C>G (p.Val2797=) c.8091C>G (p.Val2697=) c.5355C>G (p.Val1785=) c.4248C>G (p.Val1416=) c.8274C>G (p.Val2758=) c.4026C>G (p.Val1342=) c.7254C>G (p.Val2418=) | |
| 8 | g.99818483C>T | CA462457432 | VPS13B | c.8469C>T (p.Val2823=) n.8539C>T c.*4151C>T (n.*4151C>T) c.8394C>T (p.Val2798=) c.8466C>T (p.Val2822=) c.8391C>T (p.Val2797=) c.8091C>T (p.Val2697=) c.5355C>T (p.Val1785=) c.4248C>T (p.Val1416=) c.8274C>T (p.Val2758=) c.4026C>T (p.Val1342=) c.7254C>T (p.Val2418=) | |
| 8 | g.99818484T>A | CA371773680 | VPS13B | c.8470T>A (p.Trp2824Arg) n.8540T>A c.*4152T>A (n.*4152T>A) c.8395T>A (p.Trp2799Arg) c.8467T>A (p.Trp2823Arg) c.8392T>A (p.Trp2798Arg) c.8092T>A (p.Trp2698Arg) c.5356T>A (p.Trp1786Arg) c.4249T>A (p.Trp1417Arg) c.8275T>A (p.Trp2759Arg) c.4027T>A (p.Trp1343Arg) c.7255T>A (p.Trp2419Arg) | |
| 8 | g.99818484T>C | CA371773679 | VPS13B | c.8470T>C (p.Trp2824Arg) n.8540T>C c.*4152T>C (n.*4152T>C) c.8395T>C (p.Trp2799Arg) c.8467T>C (p.Trp2823Arg) c.8392T>C (p.Trp2798Arg) c.8092T>C (p.Trp2698Arg) c.5356T>C (p.Trp1786Arg) c.4249T>C (p.Trp1417Arg) c.8275T>C (p.Trp2759Arg) c.4027T>C (p.Trp1343Arg) c.7255T>C (p.Trp2419Arg) | |
| 8 | g.99818484T>G | CA371773678 | VPS13B | c.8470T>G (p.Trp2824Gly) n.8540T>G c.*4152T>G (n.*4152T>G) c.8395T>G (p.Trp2799Gly) c.8467T>G (p.Trp2823Gly) c.8392T>G (p.Trp2798Gly) c.8092T>G (p.Trp2698Gly) c.5356T>G (p.Trp1786Gly) c.4249T>G (p.Trp1417Gly) c.8275T>G (p.Trp2759Gly) c.4027T>G (p.Trp1343Gly) c.7255T>G (p.Trp2419Gly) | |
| 8 | g.99818485G>A | CA16041253 | VPS13B | c.8471G>A (p.Trp2824Ter) n.8541G>A c.*4153G>A (n.*4153G>A) c.8396G>A (p.Trp2799Ter) c.8468G>A (p.Trp2823Ter) c.8393G>A (p.Trp2798Ter) c.8093G>A (p.Trp2698Ter) c.5357G>A (p.Trp1786Ter) c.4250G>A (p.Trp1417Ter) c.8276G>A (p.Trp2759Ter) c.4028G>A (p.Trp1343Ter) c.7256G>A (p.Trp2419Ter) | ClinVar dbSNP |
| 8 | g.99818485G>C | CA371773686 | VPS13B | c.8471G>C (p.Trp2824Ser) n.8541G>C c.*4153G>C (n.*4153G>C) c.8396G>C (p.Trp2799Ser) c.8468G>C (p.Trp2823Ser) c.8393G>C (p.Trp2798Ser) c.8093G>C (p.Trp2698Ser) c.5357G>C (p.Trp1786Ser) c.4250G>C (p.Trp1417Ser) c.8276G>C (p.Trp2759Ser) c.4028G>C (p.Trp1343Ser) c.7256G>C (p.Trp2419Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.99818485G>T | CA371773683 | VPS13B | c.8471G>T (p.Trp2824Leu) n.8541G>T c.*4153G>T (n.*4153G>T) c.8396G>T (p.Trp2799Leu) c.8468G>T (p.Trp2823Leu) c.8393G>T (p.Trp2798Leu) c.8093G>T (p.Trp2698Leu) c.5357G>T (p.Trp1786Leu) c.4250G>T (p.Trp1417Leu) c.8276G>T (p.Trp2759Leu) c.4028G>T (p.Trp1343Leu) c.7256G>T (p.Trp2419Leu) | gnomAD v4 |
| 8 | g.99818486G>A | CA264138 | VPS13B | c.8472G>A (p.Trp2824Ter) n.8542G>A c.*4154G>A (n.*4154G>A) c.8397G>A (p.Trp2799Ter) c.8469G>A (p.Trp2823Ter) c.8394G>A (p.Trp2798Ter) c.8094G>A (p.Trp2698Ter) c.5358G>A (p.Trp1786Ter) c.4251G>A (p.Trp1417Ter) c.8277G>A (p.Trp2759Ter) c.4029G>A (p.Trp1343Ter) c.7257G>A (p.Trp2419Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99818486G>C | CA371773690 | VPS13B | c.8472G>C (p.Trp2824Cys) n.8542G>C c.*4154G>C (n.*4154G>C) c.8397G>C (p.Trp2799Cys) c.8469G>C (p.Trp2823Cys) c.8394G>C (p.Trp2798Cys) c.8094G>C (p.Trp2698Cys) c.5358G>C (p.Trp1786Cys) c.4251G>C (p.Trp1417Cys) c.8277G>C (p.Trp2759Cys) c.4029G>C (p.Trp1343Cys) c.7257G>C (p.Trp2419Cys) | gnomAD v4 |
| 8 | g.99818486G>T | CA371773688 | VPS13B | c.8472G>T (p.Trp2824Cys) n.8542G>T c.*4154G>T (n.*4154G>T) c.8397G>T (p.Trp2799Cys) c.8469G>T (p.Trp2823Cys) c.8394G>T (p.Trp2798Cys) c.8094G>T (p.Trp2698Cys) c.5358G>T (p.Trp1786Cys) c.4251G>T (p.Trp1417Cys) c.8277G>T (p.Trp2759Cys) c.4029G>T (p.Trp1343Cys) c.7257G>T (p.Trp2419Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99818487T>A | CA371773693 | VPS13B | c.8473T>A (p.Cys2825Ser) n.8543T>A c.*4155T>A (n.*4155T>A) c.8398T>A (p.Cys2800Ser) c.8470T>A (p.Cys2824Ser) c.8395T>A (p.Cys2799Ser) c.8095T>A (p.Cys2699Ser) c.5359T>A (p.Cys1787Ser) c.4252T>A (p.Cys1418Ser) c.8278T>A (p.Cys2760Ser) c.4030T>A (p.Cys1344Ser) c.7258T>A (p.Cys2420Ser) | |
| 8 | g.99818487T>C | CA4824444 | VPS13B | c.8473T>C (p.Cys2825Arg) n.8543T>C c.*4155T>C (n.*4155T>C) c.8398T>C (p.Cys2800Arg) c.8470T>C (p.Cys2824Arg) c.8395T>C (p.Cys2799Arg) c.8095T>C (p.Cys2699Arg) c.5359T>C (p.Cys1787Arg) c.4252T>C (p.Cys1418Arg) c.8278T>C (p.Cys2760Arg) c.4030T>C (p.Cys1344Arg) c.7258T>C (p.Cys2420Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99818487T>G | CA371773695 | VPS13B | c.8473T>G (p.Cys2825Gly) n.8543T>G c.*4155T>G (n.*4155T>G) c.8398T>G (p.Cys2800Gly) c.8470T>G (p.Cys2824Gly) c.8395T>G (p.Cys2799Gly) c.8095T>G (p.Cys2699Gly) c.5359T>G (p.Cys1787Gly) c.4252T>G (p.Cys1418Gly) c.8278T>G (p.Cys2760Gly) c.4030T>G (p.Cys1344Gly) c.7258T>G (p.Cys2420Gly) | dbSNP |
| 8 | g.99818488G>A | CA371773698 | VPS13B | c.8474G>A (p.Cys2825Tyr) n.8544G>A c.*4156G>A (n.*4156G>A) c.8399G>A (p.Cys2800Tyr) c.8471G>A (p.Cys2824Tyr) c.8396G>A (p.Cys2799Tyr) c.8096G>A (p.Cys2699Tyr) c.5360G>A (p.Cys1787Tyr) c.4253G>A (p.Cys1418Tyr) c.8279G>A (p.Cys2760Tyr) c.4031G>A (p.Cys1344Tyr) c.7259G>A (p.Cys2420Tyr) | |
| 8 | g.99818488G>C | CA371773699 | VPS13B | c.8474G>C (p.Cys2825Ser) n.8544G>C c.*4156G>C (n.*4156G>C) c.8399G>C (p.Cys2800Ser) c.8471G>C (p.Cys2824Ser) c.8396G>C (p.Cys2799Ser) c.8096G>C (p.Cys2699Ser) c.5360G>C (p.Cys1787Ser) c.4253G>C (p.Cys1418Ser) c.8279G>C (p.Cys2760Ser) c.4031G>C (p.Cys1344Ser) c.7259G>C (p.Cys2420Ser) | |
| 8 | g.99818488G>T | CA371773701 | VPS13B | c.8474G>T (p.Cys2825Phe) n.8544G>T c.*4156G>T (n.*4156G>T) c.8399G>T (p.Cys2800Phe) c.8471G>T (p.Cys2824Phe) c.8396G>T (p.Cys2799Phe) c.8096G>T (p.Cys2699Phe) c.5360G>T (p.Cys1787Phe) c.4253G>T (p.Cys1418Phe) c.8279G>T (p.Cys2760Phe) c.4031G>T (p.Cys1344Phe) c.7259G>T (p.Cys2420Phe) | gnomAD v4 |