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 |
|---|---|---|---|---|---|
| 9 | g.77360540T>A | CA373860633 | VPS13A | c.8110T>A (p.Phe2704Ile) c.7993T>A (p.Phe2665Ile) n.8462T>A | |
| 9 | g.77360540T>C | CA373860634 | VPS13A | c.8110T>C (p.Phe2704Leu) c.7993T>C (p.Phe2665Leu) n.8462T>C | |
| 9 | g.77360540T>G | CA373860635 | VPS13A | c.8110T>G (p.Phe2704Val) c.7993T>G (p.Phe2665Val) n.8462T>G | |
| 9 | g.77360541T>A | CA373860637 | VPS13A | c.8111T>A (p.Phe2704Tyr) c.7994T>A (p.Phe2665Tyr) n.8463T>A | gnomAD v4 |
| 9 | g.77360541T>C | CA373860641 | VPS13A | c.8111T>C (p.Phe2704Ser) c.7994T>C (p.Phe2665Ser) n.8463T>C | |
| 9 | g.77360541T>G | CA373860644 | VPS13A | c.8111T>G (p.Phe2704Cys) c.7994T>G (p.Phe2665Cys) n.8463T>G | |
| 9 | g.77360542C>A | CA373860647 | VPS13A | c.8112C>A (p.Phe2704Leu) c.7995C>A (p.Phe2665Leu) n.8464C>A | |
| 9 | g.77360542C>G | CA373860651 | VPS13A | c.8112C>G (p.Phe2704Leu) c.7995C>G (p.Phe2665Leu) n.8464C>G | |
| 9 | g.77360542C>T | CA465540700 | VPS13A | c.8112C>T (p.Phe2704=) c.7995C>T (p.Phe2665=) n.8464C>T | |
| 9 | g.77360543A>C | CA373860660 | VPS13A | c.8113A>C (p.Lys2705Gln) c.7996A>C (p.Lys2666Gln) n.8465A>C | |
| 9 | g.77360543A>G | CA373860663 | VPS13A | c.8113A>G (p.Lys2705Glu) c.7996A>G (p.Lys2666Glu) n.8465A>G | |
| 9 | g.77360543A>T | CA373860656 | VPS13A | c.8113A>T (p.Lys2705Ter) c.7996A>T (p.Lys2666Ter) n.8465A>T | |
| 9 | g.77360545dup | CA2697557833 | VPS13A | c.8115dup (p.Val2706SerfsTer26) c.7998dup (p.Val2667SerfsTer26) n.8467dup | ClinVar |
| 9 | g.77360544A>C | CA373860670 | VPS13A | c.8114A>C (p.Lys2705Thr) c.7997A>C (p.Lys2666Thr) n.8466A>C | |
| 9 | g.77360544A>G | CA373860667 | VPS13A | c.8114A>G (p.Lys2705Arg) c.7997A>G (p.Lys2666Arg) n.8466A>G | |
| 9 | g.77360544A>T | CA373860671 | VPS13A | c.8114A>T (p.Lys2705Ile) c.7997A>T (p.Lys2666Ile) n.8466A>T | |
| 9 | g.77360545A>C | CA373860672 | VPS13A | c.8115A>C (p.Lys2705Asn) c.7998A>C (p.Lys2666Asn) n.8467A>C | |
| 9 | g.77360545A>G | CA465540701 | VPS13A | c.8115A>G (p.Lys2705=) c.7998A>G (p.Lys2666=) n.8467A>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.77360545A>T | CA373860673 | VPS13A | c.8115A>T (p.Lys2705Asn) c.7998A>T (p.Lys2666Asn) n.8467A>T | |
| 9 | g.77360546G>A | CA373860675 | VPS13A | c.8116G>A (p.Val2706Ile) c.7999G>A (p.Val2667Ile) n.8468G>A | gnomAD v4 |
| 9 | g.77360546G>C | CA373860680 | VPS13A | c.8116G>C (p.Val2706Leu) c.7999G>C (p.Val2667Leu) n.8468G>C | |
| 9 | g.77360546G>T | CA373860681 | VPS13A | c.8116G>T (p.Val2706Leu) c.7999G>T (p.Val2667Leu) n.8468G>T | |
| 9 | g.77360547T>A | CA373860687 | VPS13A | c.8117T>A (p.Val2706Glu) c.8000T>A (p.Val2667Glu) n.8469T>A | |
| 9 | g.77360547T>C | CA373860689 | VPS13A | c.8117T>C (p.Val2706Ala) c.8000T>C (p.Val2667Ala) n.8469T>C | |
| 9 | g.77360547T>G | CA373860703 | VPS13A | c.8117T>G (p.Val2706Gly) c.8000T>G (p.Val2667Gly) n.8469T>G | |
| 9 | g.77360548A= | CA1857216846 | VPS13A | c.8118A= (p.Val2706=) c.8001A= (p.Val2667=) n.8470A= | |
| 9 | g.77360548A>C | CA465540702 | VPS13A | c.8118A>C (p.Val2706=) c.8001A>C (p.Val2667=) n.8470A>C | |
| 9 | g.77360548A>G | CA465540703 | VPS13A | c.8118A>G (p.Val2706=) c.8001A>G (p.Val2667=) n.8470A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.77360548A>T | CA465540704 | VPS13A | c.8118A>T (p.Val2706=) c.8001A>T (p.Val2667=) n.8470A>T | |
| 9 | g.77360549T>A | CA373860708 | VPS13A | c.8119T>A (p.Leu2707Met) c.8002T>A (p.Leu2668Met) n.8471T>A | gnomAD v4 |
| 9 | g.77360549T>C | CA465540705 | VPS13A | c.8119T>C (p.Leu2707=) c.8002T>C (p.Leu2668=) n.8471T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.77360549T>G | CA373860717 | VPS13A | c.8119T>G (p.Leu2707Val) c.8002T>G (p.Leu2668Val) n.8471T>G | |
| 9 | g.77360549T= | CA1857216847 | VPS13A | c.8119T= (p.Leu2707=) c.8002T= (p.Leu2668=) n.8471T= | |
| 9 | g.77360550T>A | CA373860738 | VPS13A | c.8120T>A (p.Leu2707Ter) c.8003T>A (p.Leu2668Ter) n.8472T>A | |
| 9 | g.77360550T>C | CA373860739 | VPS13A | c.8120T>C (p.Leu2707Ser) c.8003T>C (p.Leu2668Ser) n.8472T>C | |
| 9 | g.77360550T>G | CA373860740 | VPS13A | c.8120T>G (p.Leu2707Trp) c.8003T>G (p.Leu2668Trp) n.8472T>G | |
| 9 | g.77360551G>A | CA465540706 | VPS13A | c.8121G>A (p.Leu2707=) c.8004G>A (p.Leu2668=) n.8473G>A | |
| 9 | g.77360551G>C | CA373860744 | VPS13A | c.8121G>C (p.Leu2707Phe) c.8004G>C (p.Leu2668Phe) n.8473G>C | |
| 9 | g.77360551G>T | CA373860742 | VPS13A | c.8121G>T (p.Leu2707Phe) c.8004G>T (p.Leu2668Phe) n.8473G>T | |
| 9 | g.77360552A>C | CA373860747 | VPS13A | c.8122A>C (p.Ile2708Leu) c.8005A>C (p.Ile2669Leu) n.8474A>C | |
| 9 | g.77360552A>G | CA373860750 | VPS13A | c.8122A>G (p.Ile2708Val) c.8005A>G (p.Ile2669Val) n.8474A>G | gnomAD v4 |
| 9 | g.77360552A>T | CA373860751 | VPS13A | c.8122A>T (p.Ile2708Phe) c.8005A>T (p.Ile2669Phe) n.8474A>T | |
| 9 | g.77360553T>A | CA373860752 | VPS13A | c.8123T>A (p.Ile2708Asn) c.8006T>A (p.Ile2669Asn) n.8475T>A | |
| 9 | g.77360553T>C | CA373860755 | VPS13A | c.8123T>C (p.Ile2708Thr) c.8006T>C (p.Ile2669Thr) n.8475T>C | gnomAD v4 |
| 9 | g.77360553T>G | CA373860765 | VPS13A | c.8123T>G (p.Ile2708Ser) c.8006T>G (p.Ile2669Ser) n.8475T>G | |
| 9 | g.77360554T>A | CA465540707 | VPS13A | c.8124T>A (p.Ile2708=) c.8007T>A (p.Ile2669=) n.8476T>A | |
| 9 | g.77360554T>C | CA465540708 | VPS13A | c.8124T>C (p.Ile2708=) c.8007T>C (p.Ile2669=) n.8476T>C | |
| 9 | g.77360554T>G | CA373860781 | VPS13A | c.8124T>G (p.Ile2708Met) c.8007T>G (p.Ile2669Met) n.8476T>G | |
| 9 | g.77360555C>A | CA373860794 | VPS13A | c.8125C>A (p.Gln2709Lys) c.8008C>A (p.Gln2670Lys) n.8477C>A | |
| 9 | g.77360555C>G | CA373860797 | VPS13A | c.8125C>G (p.Gln2709Glu) c.8008C>G (p.Gln2670Glu) n.8477C>G | |
| 9 | g.77360555C>T | CA373860799 | VPS13A | c.8125C>T (p.Gln2709Ter) c.8008C>T (p.Gln2670Ter) n.8477C>T | |
| 9 | g.77360556A>C | CA373860802 | VPS13A | c.8126A>C (p.Gln2709Pro) c.8009A>C (p.Gln2670Pro) n.8478A>C | |
| 9 | g.77360556A>G | CA373860805 | VPS13A | c.8126A>G (p.Gln2709Arg) c.8009A>G (p.Gln2670Arg) n.8478A>G | |
| 9 | g.77360556A>T | CA373860809 | VPS13A | c.8126A>T (p.Gln2709Leu) c.8009A>T (p.Gln2670Leu) n.8478A>T | |
| 9 | g.77360557A= | CA1857216848 | VPS13A | c.8127A= (p.Gln2709=) c.8010A= (p.Gln2670=) n.8479A= | |
| 9 | g.77360557A>C | CA373860811 | VPS13A | c.8127A>C (p.Gln2709His) c.8010A>C (p.Gln2670His) n.8479A>C | |
| 9 | g.77360557A>G | CA465540709 | VPS13A | c.8127A>G (p.Gln2709=) c.8010A>G (p.Gln2670=) n.8479A>G | dbSNP |
| 9 | g.77360557A>T | CA373860810 | VPS13A | c.8127A>T (p.Gln2709His) c.8010A>T (p.Gln2670His) n.8479A>T | |
| 9 | g.77360558G>A | CA373860814 | VPS13A | c.8128G>A (p.Glu2710Lys) c.8011G>A (p.Glu2671Lys) n.8480G>A | |
| 9 | g.77360558G>C | CA373860816 | VPS13A | c.8128G>C (p.Glu2710Gln) c.8011G>C (p.Glu2671Gln) n.8480G>C | |
| 9 | g.77360558G>T | CA373860825 | VPS13A | c.8128G>T (p.Glu2710Ter) c.8011G>T (p.Glu2671Ter) n.8480G>T | |
| 9 | g.77360559A>C | CA373860830 | VPS13A | c.8129A>C (p.Glu2710Ala) c.8012A>C (p.Glu2671Ala) n.8481A>C | |
| 9 | g.77360559A>G | CA373860834 | VPS13A | c.8129A>G (p.Glu2710Gly) c.8012A>G (p.Glu2671Gly) n.8481A>G | |
| 9 | g.77360559A>T | CA373860835 | VPS13A | c.8129A>T (p.Glu2710Val) c.8012A>T (p.Glu2671Val) n.8481A>T | |
| 9 | g.77360560A= | CA1857216849 | VPS13A | c.8130A= (p.Glu2710=) c.8013A= (p.Glu2671=) n.8482A= | |
| 9 | g.77360560A>C | CA373860846 | VPS13A | c.8130A>C (p.Glu2710Asp) c.8013A>C (p.Glu2671Asp) n.8482A>C | |
| 9 | g.77360560A>G | CA5093551 | VPS13A | c.8130A>G (p.Glu2710=) c.8013A>G (p.Glu2671=) n.8482A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.77360560A>T | CA373860836 | VPS13A | c.8130A>T (p.Glu2710Asp) c.8013A>T (p.Glu2671Asp) n.8482A>T | |
| 9 | g.77360561A>C | CA373860850 | VPS13A | c.8131A>C (p.Met2711Leu) c.8014A>C (p.Met2672Leu) n.8483A>C | |
| 9 | g.77360561A>G | CA373860855 | VPS13A | c.8131A>G (p.Met2711Val) c.8014A>G (p.Met2672Val) n.8483A>G | gnomAD v4 |
| 9 | g.77360561A>T | CA373860868 | VPS13A | c.8131A>T (p.Met2711Leu) c.8014A>T (p.Met2672Leu) n.8483A>T | |
| 9 | g.77360562T>A | CA373860874 | VPS13A | c.8132T>A (p.Met2711Lys) c.8015T>A (p.Met2672Lys) n.8484T>A | |
| 9 | g.77360562T>C | CA373860875 | VPS13A | c.8132T>C (p.Met2711Thr) c.8015T>C (p.Met2672Thr) n.8484T>C | |
| 9 | g.77360562T>G | CA373860877 | VPS13A | c.8132T>G (p.Met2711Arg) c.8015T>G (p.Met2672Arg) n.8484T>G | |
| 9 | g.77360563G>A | CA373860880 | VPS13A | c.8133G>A (p.Met2711Ile) c.8016G>A (p.Met2672Ile) n.8485G>A | |
| 9 | g.77360563G>C | CA373860884 | VPS13A | c.8133G>C (p.Met2711Ile) c.8016G>C (p.Met2672Ile) n.8485G>C | dbSNP |
| 9 | g.77360563G= | CA1857216850 | VPS13A | c.8133G= (p.Met2711=) c.8016G= (p.Met2672=) n.8485G= | |
| 9 | g.77360563G>T | CA373860883 | VPS13A | c.8133G>T (p.Met2711Ile) c.8016G>T (p.Met2672Ile) n.8485G>T | |
| 9 | g.77360564G>A | CA373860887 | VPS13A | c.8134G>A (p.Asp2712Asn) c.8017G>A (p.Asp2673Asn) n.8486G>A | |
| 9 | g.77360564G>C | CA373860897 | VPS13A | c.8134G>C (p.Asp2712His) c.8017G>C (p.Asp2673His) n.8486G>C | |
| 9 | g.77360564G>T | CA373860914 | VPS13A | c.8134G>T (p.Asp2712Tyr) c.8017G>T (p.Asp2673Tyr) n.8486G>T | gnomAD v4 |
| 9 | g.77360565A= | CA1857216851 | VPS13A | c.8135A= (p.Asp2712=) c.8018A= (p.Asp2673=) n.8487A= | |
| 9 | g.77360565A>C | CA373860917 | VPS13A | c.8135A>C (p.Asp2712Ala) c.8018A>C (p.Asp2673Ala) n.8487A>C | |
| 9 | g.77360565A>G | CA373860923 | VPS13A | c.8135A>G (p.Asp2712Gly) c.8018A>G (p.Asp2673Gly) n.8487A>G | |
| 9 | g.77360565A>T | CA373860926 | VPS13A | c.8135A>T (p.Asp2712Val) c.8018A>T (p.Asp2673Val) n.8487A>T | dbSNP |
| 9 | g.77360566T>A | CA373860928 | VPS13A | c.8136T>A (p.Asp2712Glu) c.8019T>A (p.Asp2673Glu) n.8488T>A | |
| 9 | g.77360566T>C | CA465540710 | VPS13A | c.8136T>C (p.Asp2712=) c.8019T>C (p.Asp2673=) n.8488T>C | gnomAD v4 |
| 9 | g.77360566T>G | CA373860930 | VPS13A | c.8136T>G (p.Asp2712Glu) c.8019T>G (p.Asp2673Glu) n.8488T>G | |
| 9 | g.77360567C>A | CA373860933 | VPS13A | c.8137C>A (p.Leu2713Ile) c.8020C>A (p.Leu2674Ile) n.8489C>A | |
| 9 | g.77360567C= | CA1857216852 | VPS13A | c.8137C= (p.Leu2713=) c.8020C= (p.Leu2674=) n.8489C= | |
| 9 | g.77360567C>G | CA373860936 | VPS13A | c.8137C>G (p.Leu2713Val) c.8020C>G (p.Leu2674Val) n.8489C>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.77360567C>T | CA373860941 | VPS13A | c.8137C>T (p.Leu2713Phe) c.8020C>T (p.Leu2674Phe) n.8489C>T | |
| 9 | g.77360568T>A | CA373860944 | VPS13A | c.8138T>A (p.Leu2713His) c.8021T>A (p.Leu2674His) n.8490T>A | |
| 9 | g.77360568T>C | CA373860965 | VPS13A | c.8138T>C (p.Leu2713Pro) c.8021T>C (p.Leu2674Pro) n.8490T>C | |
| 9 | g.77360568T>G | CA373860960 | VPS13A | c.8138T>G (p.Leu2713Arg) c.8021T>G (p.Leu2674Arg) n.8490T>G | |
| 9 | g.77360569C>A | CA465540713 | VPS13A | c.8139C>A (p.Leu2713=) c.8022C>A (p.Leu2674=) n.8491C>A | |
| 9 | g.77360569C>G | CA465540711 | VPS13A | c.8139C>G (p.Leu2713=) c.8022C>G (p.Leu2674=) n.8491C>G | |
| 9 | g.77360569C>T | CA465540712 | VPS13A | c.8139C>T (p.Leu2713=) c.8022C>T (p.Leu2674=) n.8491C>T | |
| 9 | g.77360570A= | CA1857216853 | VPS13A | c.8140A= (p.Arg2714=) c.8023A= (p.Arg2675=) n.8492A= | |
| 9 | g.77360570A>C | CA5093552 | VPS13A | c.8140A>C (p.Arg2714=) c.8023A>C (p.Arg2675=) n.8492A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.77360570A>G | CA373860970 | VPS13A | c.8140A>G (p.Arg2714Gly) c.8023A>G (p.Arg2675Gly) n.8492A>G | |
| 9 | g.77360570A>T | CA373860971 | VPS13A | c.8140A>T (p.Arg2714Trp) c.8023A>T (p.Arg2675Trp) n.8492A>T | |
| 9 | g.77360571G>A | CA373860975 | VPS13A | c.8141G>A (p.Arg2714Lys) c.8024G>A (p.Arg2675Lys) n.8493G>A | |
| 9 | g.77360571G>C | CA373860976 | VPS13A | c.8141G>C (p.Arg2714Thr) c.8024G>C (p.Arg2675Thr) n.8493G>C | |
| 9 | g.77360571G>T | CA373860977 | VPS13A | c.8141G>T (p.Arg2714Met) c.8024G>T (p.Arg2675Met) n.8493G>T | |
| 9 | g.77360572G>A | CA465540714 | VPS13A | c.8142G>A (p.Arg2714=) c.8025G>A (p.Arg2675=) n.8494G>A | gnomAD v4 |
| 9 | g.77360572G>C | CA373860978 | VPS13A | c.8142G>C (p.Arg2714Ser) c.8025G>C (p.Arg2675Ser) n.8494G>C | |
| 9 | g.77360572G= | CA1857216854 | VPS13A | c.8142G= (p.Arg2714=) c.8025G= (p.Arg2675=) n.8494G= | |
| 9 | g.77360572G>T | CA5093553 | VPS13A | c.8142G>T (p.Arg2714Ser) c.8025G>T (p.Arg2675Ser) n.8494G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.77360573T>A | CA373860981 | VPS13A | c.8143T>A (p.Leu2715Ile) c.8026T>A (p.Leu2676Ile) n.8495T>A | |
| 9 | g.77360573T>C | CA465540715 | VPS13A | c.8143T>C (p.Leu2715=) c.8026T>C (p.Leu2676=) n.8495T>C | |
| 9 | g.77360573T>G | CA373860984 | VPS13A | c.8143T>G (p.Leu2715Val) c.8026T>G (p.Leu2676Val) n.8495T>G | |
| 9 | g.77360574T>A | CA373860991 | VPS13A | c.8144T>A (p.Leu2715Ter) c.8027T>A (p.Leu2676Ter) n.8496T>A | |
| 9 | g.77360574T>C | CA373860993 | VPS13A | c.8144T>C (p.Leu2715Ser) c.8027T>C (p.Leu2676Ser) n.8496T>C | |
| 9 | g.77360574T>G | CA373860994 | VPS13A | c.8144T>G (p.Leu2715Ter) c.8027T>G (p.Leu2676Ter) n.8496T>G | |
| 9 | g.77360575A= | CA1857216855 | VPS13A | c.8145A= (p.Leu2715=) c.8028A= (p.Leu2676=) n.8497A= | |
| 9 | g.77360575A>C | CA373860997 | VPS13A | c.8145A>C (p.Leu2715Phe) c.8028A>C (p.Leu2676Phe) n.8497A>C | |
| 9 | g.77360575A>G | CA465540716 | VPS13A | c.8145A>G (p.Leu2715=) c.8028A>G (p.Leu2676=) n.8497A>G | ClinVar dbSNP |
| 9 | g.77360575A>T | CA373861014 | VPS13A | c.8145A>T (p.Leu2715Phe) c.8028A>T (p.Leu2676Phe) n.8497A>T | |
| 9 | g.77360576G>A | CA373861015 | VPS13A | c.8146G>A (p.Asp2716Asn) c.8029G>A (p.Asp2677Asn) n.8498G>A | |
| 9 | g.77360576G>C | CA373861021 | VPS13A | c.8146G>C (p.Asp2716His) c.8029G>C (p.Asp2677His) n.8498G>C | |
| 9 | g.77360576G>T | CA373861019 | VPS13A | c.8146G>T (p.Asp2716Tyr) c.8029G>T (p.Asp2677Tyr) n.8498G>T | |
| 9 | g.77360577A>C | CA373861023 | VPS13A | c.8147A>C (p.Asp2716Ala) c.8030A>C (p.Asp2677Ala) n.8499A>C | |
| 9 | g.77360577A>G | CA373861025 | VPS13A | c.8147A>G (p.Asp2716Gly) c.8030A>G (p.Asp2677Gly) n.8499A>G | |
| 9 | g.77360577A>T | CA373861026 | VPS13A | c.8147A>T (p.Asp2716Val) c.8030A>T (p.Asp2677Val) n.8499A>T | |
| 9 | g.77360578del | CA2582341997 | VPS13A | c.8148del (p.Phe2719LeufsTer5) c.8031del (p.Phe2680LeufsTer5) n.8500del | ClinVar |
| 9 | g.77360578T>A | CA373861029 | VPS13A | c.8148T>A (p.Asp2716Glu) c.8031T>A (p.Asp2677Glu) n.8500T>A | |
| 9 | g.77360578T>C | CA465540717 | VPS13A | c.8148T>C (p.Asp2716=) c.8031T>C (p.Asp2677=) n.8500T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.77360578T>G | CA373861030 | VPS13A | c.8148T>G (p.Asp2716Glu) c.8031T>G (p.Asp2677Glu) n.8500T>G | |
| 9 | g.77360578T= | CA1857216856 | VPS13A | c.8148T= (p.Asp2716=) c.8031T= (p.Asp2677=) n.8500T= | |
| 9 | g.77360579C>A | CA373861034 | VPS13A | c.8149C>A (p.Leu2717Ile) c.8032C>A (p.Leu2678Ile) n.8501C>A | gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.77360579C>G | CA373861037 | VPS13A | c.8149C>G (p.Leu2717Val) c.8032C>G (p.Leu2678Val) n.8501C>G | |
| 9 | g.77360579C>T | CA373861038 | VPS13A | c.8149C>T (p.Leu2717Phe) c.8032C>T (p.Leu2678Phe) n.8501C>T | gnomAD v4 |
| 9 | g.77360580T>A | CA373861051 | VPS13A | c.8150T>A (p.Leu2717His) c.8033T>A (p.Leu2678His) n.8502T>A | |
| 9 | g.77360580T>C | CA373861053 | VPS13A | c.8150T>C (p.Leu2717Pro) c.8033T>C (p.Leu2678Pro) n.8502T>C | |
| 9 | g.77360580T>G | CA373861055 | VPS13A | c.8150T>G (p.Leu2717Arg) c.8033T>G (p.Leu2678Arg) n.8502T>G | |
| 9 | g.77360581T>A | CA465540718 | VPS13A | c.8151T>A (p.Leu2717=) c.8034T>A (p.Leu2678=) n.8503T>A | |
| 9 | g.77360581T>C | CA465540719 | VPS13A | c.8151T>C (p.Leu2717=) c.8034T>C (p.Leu2678=) n.8503T>C | ClinVar dbSNP |
| 9 | g.77360581T>G | CA465540720 | VPS13A | c.8151T>G (p.Leu2717=) c.8034T>G (p.Leu2678=) n.8503T>G | |
| 9 | g.77360581T= | CA1857216857 | VPS13A | c.8151T= (p.Leu2717=) c.8034T= (p.Leu2678=) n.8503T= | |
| 9 | g.77360582G>A | CA5093554 | VPS13A | c.8152G>A (p.Gly2718Arg) c.8035G>A (p.Gly2679Arg) n.8504G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.77360582G>C | CA373861070 | VPS13A | c.8152G>C (p.Gly2718Arg) c.8035G>C (p.Gly2679Arg) n.8504G>C | |
| 9 | g.77360582G= | CA1857216858 | VPS13A | c.8152G= (p.Gly2718=) c.8035G= (p.Gly2679=) n.8504G= | |
| 9 | g.77360582G>T | CA373861066 | VPS13A | c.8152G>T (p.Gly2718Trp) c.8035G>T (p.Gly2679Trp) n.8504G>T | gnomAD v4 |
| 9 | g.77360583G>A | CA373861071 | VPS13A | c.8153G>A (p.Gly2718Glu) c.8036G>A (p.Gly2679Glu) n.8505G>A | |
| 9 | g.77360583G>C | CA373861073 | VPS13A | c.8153G>C (p.Gly2718Ala) c.8036G>C (p.Gly2679Ala) n.8505G>C | dbSNP |
| 9 | g.77360583G= | CA1857216859 | VPS13A | c.8153G= (p.Gly2718=) c.8036G= (p.Gly2679=) n.8505G= | |
| 9 | g.77360583G>T | CA373861074 | VPS13A | c.8153G>T (p.Gly2718Val) c.8036G>T (p.Gly2679Val) n.8505G>T | |
| 9 | g.77360584G>A | CA465540721 | VPS13A | c.8154G>A (p.Gly2718=) c.8037G>A (p.Gly2679=) n.8506G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.77360584G>C | CA465540722 | VPS13A | c.8154G>C (p.Gly2718=) c.8037G>C (p.Gly2679=) n.8506G>C | |
| 9 | g.77360584G= | CA1857216860 | VPS13A | c.8154G= (p.Gly2718=) c.8037G= (p.Gly2679=) n.8506G= | |
| 9 | g.77360584G>T | CA465540723 | VPS13A | c.8154G>T (p.Gly2718=) c.8037G>T (p.Gly2679=) n.8506G>T | gnomAD v4 |
| 9 | g.77360585T>A | CA373861077 | VPS13A | c.8155T>A (p.Phe2719Ile) c.8038T>A (p.Phe2680Ile) n.8507T>A | |
| 9 | g.77360585T>C | CA373861078 | VPS13A | c.8155T>C (p.Phe2719Leu) c.8038T>C (p.Phe2680Leu) n.8507T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.77360585T>G | CA373861080 | VPS13A | c.8155T>G (p.Phe2719Val) c.8038T>G (p.Phe2680Val) n.8507T>G | |
| 9 | g.77360585T= | CA1857216861 | VPS13A | c.8155T= (p.Phe2719=) c.8038T= (p.Phe2680=) n.8507T= | |
| 9 | g.77360587dup | CA2579360696 | VPS13A | c.8157dup (p.Ile2720TyrfsTer12) c.8040dup (p.Ile2681TyrfsTer12) n.8509dup | |
| 9 | g.77360586T>A | CA373861085 | VPS13A | c.8156T>A (p.Phe2719Tyr) c.8039T>A (p.Phe2680Tyr) n.8508T>A | |
| 9 | g.77360586T>C | CA373861105 | VPS13A | c.8156T>C (p.Phe2719Ser) c.8039T>C (p.Phe2680Ser) n.8508T>C | |
| 9 | g.77360586T>G | CA373861110 | VPS13A | c.8156T>G (p.Phe2719Cys) c.8039T>G (p.Phe2680Cys) n.8508T>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.77360586T= | CA1857216862 | VPS13A | c.8156T= (p.Phe2719=) c.8039T= (p.Phe2680=) n.8508T= | |
| 9 | g.77360587T>A | CA373861111 | VPS13A | c.8157T>A (p.Phe2719Leu) c.8040T>A (p.Phe2680Leu) n.8509T>A | |
| 9 | g.77360587T>C | CA5093555 | VPS13A | c.8157T>C (p.Phe2719=) c.8040T>C (p.Phe2680=) n.8509T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.77360587T>G | CA373861112 | VPS13A | c.8157T>G (p.Phe2719Leu) c.8040T>G (p.Phe2680Leu) n.8509T>G | |
| 9 | g.77360587T= | CA1857216863 | VPS13A | c.8157T= (p.Phe2719=) c.8040T= (p.Phe2680=) n.8509T= | |
| 9 | g.77360588A= | CA1857216864 | VPS13A | c.8158A= (p.Ile2720=) c.8041A= (p.Ile2681=) n.8510A= | |
| 9 | g.77360588A>C | CA373861116 | VPS13A | c.8158A>C (p.Ile2720Leu) c.8041A>C (p.Ile2681Leu) n.8510A>C | |
| 9 | g.77360588A>G | CA373861113 | VPS13A | c.8158A>G (p.Ile2720Val) c.8041A>G (p.Ile2681Val) n.8510A>G | dbSNP |
| 9 | g.77360588A>T | CA194400399 | VPS13A | c.8158A>T (p.Ile2720Phe) c.8041A>T (p.Ile2681Phe) n.8510A>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.77360589T>A | CA373861121 | VPS13A | c.8159T>A (p.Ile2720Asn) c.8042T>A (p.Ile2681Asn) n.8511T>A | |
| 9 | g.77360589T>C | CA373861125 | VPS13A | c.8159T>C (p.Ile2720Thr) c.8042T>C (p.Ile2681Thr) n.8511T>C | |
| 9 | g.77360589T>G | CA373861136 | VPS13A | c.8159T>G (p.Ile2720Ser) c.8042T>G (p.Ile2681Ser) n.8511T>G | |
| 9 | g.77360590C>A | CA465540724 | VPS13A | c.8160C>A (p.Ile2720=) c.8043C>A (p.Ile2681=) n.8512C>A | |
| 9 | g.77360590C= | CA1857216865 | VPS13A | c.8160C= (p.Ile2720=) c.8043C= (p.Ile2681=) n.8512C= | |
| 9 | g.77360590C>G | CA373861139 | VPS13A | c.8160C>G (p.Ile2720Met) c.8043C>G (p.Ile2681Met) n.8512C>G | gnomAD v4 |
| 9 | g.77360590C>T | CA194400404 | VPS13A | c.8160C>T (p.Ile2720=) c.8043C>T (p.Ile2681=) n.8512C>T | dbSNP |
| 9 | g.77360591T>A | CA373861140 | VPS13A | c.8161T>A (p.Tyr2721Asn) c.8044T>A (p.Tyr2682Asn) n.8513T>A | |
| 9 | g.77360591T>C | CA373861141 | VPS13A | c.8161T>C (p.Tyr2721His) c.8044T>C (p.Tyr2682His) n.8513T>C | |
| 9 | g.77360591T>G | CA373861142 | VPS13A | c.8161T>G (p.Tyr2721Asp) c.8044T>G (p.Tyr2682Asp) n.8513T>G | |
| 9 | g.77360592A= | CA1857216866 | VPS13A | c.8162A= (p.Tyr2721=) c.8045A= (p.Tyr2682=) n.8514A= | |
| 9 | g.77360592A>C | CA373861145 | VPS13A | c.8162A>C (p.Tyr2721Ser) c.8045A>C (p.Tyr2682Ser) n.8514A>C | |
| 9 | g.77360592A>G | CA5093556 | VPS13A | c.8162A>G (p.Tyr2721Cys) c.8045A>G (p.Tyr2682Cys) n.8514A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.77360592A>T | CA373861147 | VPS13A | c.8162A>T (p.Tyr2721Phe) c.8045A>T (p.Tyr2682Phe) n.8514A>T | |
| 9 | g.77360593T>A | CA373861148 | VPS13A | c.8163T>A (p.Tyr2721Ter) c.8046T>A (p.Tyr2682Ter) n.8515T>A | |
| 9 | g.77360593T>C | CA465540725 | VPS13A | c.8163T>C (p.Tyr2721=) c.8046T>C (p.Tyr2682=) n.8515T>C | gnomAD v4 |
| 9 | g.77360593T>G | CA373861149 | VPS13A | c.8163T>G (p.Tyr2721Ter) c.8046T>G (p.Tyr2682Ter) n.8515T>G | |
| 9 | g.77360594G>A | CA373861154 | VPS13A | c.8164G>A (p.Ala2722Thr) c.8047G>A (p.Ala2683Thr) n.8516G>A | |
| 9 | g.77360594G>C | CA373861157 | VPS13A | c.8164G>C (p.Ala2722Pro) c.8047G>C (p.Ala2683Pro) n.8516G>C | |
| 9 | g.77360594G>T | CA373861151 | VPS13A | c.8164G>T (p.Ala2722Ser) c.8047G>T (p.Ala2683Ser) n.8516G>T | |
| 9 | g.77360595C>A | CA373861170 | VPS13A | c.8165C>A (p.Ala2722Asp) c.8048C>A (p.Ala2683Asp) n.8517C>A | |
| 9 | g.77360595C>G | CA373861173 | VPS13A | c.8165C>G (p.Ala2722Gly) c.8048C>G (p.Ala2683Gly) n.8517C>G | |
| 9 | g.77360595C>T | CA373861181 | VPS13A | c.8165C>T (p.Ala2722Val) c.8048C>T (p.Ala2683Val) n.8517C>T | gnomAD v4 |
| 9 | g.77360596T>A | CA465540728 | VPS13A | c.8166T>A (p.Ala2722=) c.8049T>A (p.Ala2683=) n.8518T>A | |
| 9 | g.77360596T>C | CA465540727 | VPS13A | c.8166T>C (p.Ala2722=) c.8049T>C (p.Ala2683=) n.8518T>C | |
| 9 | g.77360596T>G | CA465540726 | VPS13A | c.8166T>G (p.Ala2722=) c.8049T>G (p.Ala2683=) n.8518T>G | |
| 9 | g.77360597T>A | CA373861190 | VPS13A | c.8167T>A (p.Leu2723Ile) c.8050T>A (p.Leu2684Ile) n.8519T>A | |
| 9 | g.77360597T>C | CA465540729 | VPS13A | c.8167T>C (p.Leu2723=) c.8050T>C (p.Leu2684=) n.8519T>C | gnomAD v4 |
| 9 | g.77360597T>G | CA373861192 | VPS13A | c.8167T>G (p.Leu2723Val) c.8050T>G (p.Leu2684Val) n.8519T>G | |
| 9 | g.77360598T>A | CA373861203 | VPS13A | c.8168T>A (p.Leu2723Ter) c.8051T>A (p.Leu2684Ter) n.8520T>A | |
| 9 | g.77360598T>C | CA373861204 | VPS13A | c.8168T>C (p.Leu2723Ser) c.8051T>C (p.Leu2684Ser) n.8520T>C | |
| 9 | g.77360598T>G | CA373861205 | VPS13A | c.8168T>G (p.Leu2723Ter) c.8051T>G (p.Leu2684Ter) n.8520T>G | |
| 9 | g.77360599A= | CA1857216867 | VPS13A | c.8169A= (p.Leu2723=) c.8052A= (p.Leu2684=) n.8521A= | |
| 9 | g.77360599A>C | CA5093557 | VPS13A | c.8169A>C (p.Leu2723Phe) c.8052A>C (p.Leu2684Phe) n.8521A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.77360599A>G | CA465540730 | VPS13A | c.8169A>G (p.Leu2723=) c.8052A>G (p.Leu2684=) n.8521A>G | |
| 9 | g.77360599A>T | CA373861210 | VPS13A | c.8169A>T (p.Leu2723Phe) c.8052A>T (p.Leu2684Phe) n.8521A>T | gnomAD v4 |
| 9 | g.77360600A>C | CA373861216 | VPS13A | c.8170A>C (p.Thr2724Pro) c.8053A>C (p.Thr2685Pro) n.8522A>C | |
| 9 | g.77360600A>G | CA373861218 | VPS13A | c.8170A>G (p.Thr2724Ala) c.8053A>G (p.Thr2685Ala) n.8522A>G | |
| 9 | g.77360600A>T | CA373861221 | VPS13A | c.8170A>T (p.Thr2724Ser) c.8053A>T (p.Thr2685Ser) n.8522A>T | |
| 9 | g.77360601C>A | CA373861228 | VPS13A | c.8171C>A (p.Thr2724Lys) c.8054C>A (p.Thr2685Lys) n.8523C>A | |
| 9 | g.77360601C= | CA1857216868 | VPS13A | c.8171C= (p.Thr2724=) c.8054C= (p.Thr2685=) n.8523C= | |
| 9 | g.77360601C>G | CA373861227 | VPS13A | c.8171C>G (p.Thr2724Arg) c.8054C>G (p.Thr2685Arg) n.8523C>G | |
| 9 | g.77360601C>T | CA373861224 | VPS13A | c.8171C>T (p.Thr2724Ile) c.8054C>T (p.Thr2685Ile) n.8523C>T | dbSNP |
| 9 | g.77360602A>C | CA465540733 | VPS13A | c.8172A>C (p.Thr2724=) c.8055A>C (p.Thr2685=) n.8524A>C | |
| 9 | g.77360602A>G | CA465540732 | VPS13A | c.8172A>G (p.Thr2724=) c.8055A>G (p.Thr2685=) n.8524A>G | |
| 9 | g.77360602A>T | CA465540731 | VPS13A | c.8172A>T (p.Thr2724=) c.8055A>T (p.Thr2685=) n.8524A>T | |
| 9 | g.77360603G>A | CA373861233 | VPS13A | c.8173G>A (p.Asp2725Asn) c.8056G>A (p.Asp2686Asn) n.8525G>A | |
| 9 | g.77360603G>C | CA373861246 | VPS13A | c.8173G>C (p.Asp2725His) c.8056G>C (p.Asp2686His) n.8525G>C | |
| 9 | g.77360603G>T | CA373861247 | VPS13A | c.8173G>T (p.Asp2725Tyr) c.8056G>T (p.Asp2686Tyr) n.8525G>T | gnomAD v4 |
| 9 | g.77360604A= | CA1857216869 | VPS13A | c.8174A= (p.Asp2725=) c.8057A= (p.Asp2686=) n.8526A= | |
| 9 | g.77360604A>C | CA373861250 | VPS13A | c.8174A>C (p.Asp2725Ala) c.8057A>C (p.Asp2686Ala) n.8526A>C | |
| 9 | g.77360604A>G | CA373861252 | VPS13A | c.8174A>G (p.Asp2725Gly) c.8057A>G (p.Asp2686Gly) n.8526A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.77360604A>T | CA373861255 | VPS13A | c.8174A>T (p.Asp2725Val) c.8057A>T (p.Asp2686Val) n.8526A>T | |
| 9 | g.77360605C>A | CA373861257 | VPS13A | c.8175C>A (p.Asp2725Glu) c.8058C>A (p.Asp2686Glu) n.8527C>A | |
| 9 | g.77360605C>G | CA373861260 | VPS13A | c.8175C>G (p.Asp2725Glu) c.8058C>G (p.Asp2686Glu) n.8527C>G | |
| 9 | g.77360605C>T | CA465540734 | VPS13A | c.8175C>T (p.Asp2725=) c.8058C>T (p.Asp2686=) n.8527C>T | |
| 9 | g.77360606C>A | CA373861262 | VPS13A | c.8176C>A (p.Leu2726Ile) c.8059C>A (p.Leu2687Ile) n.8528C>A | gnomAD v4 |
| 9 | g.77360606C>G | CA373861265 | VPS13A | c.8176C>G (p.Leu2726Val) c.8059C>G (p.Leu2687Val) n.8528C>G | |
| 9 | g.77360606C>T | CA373861266 | VPS13A | c.8176C>T (p.Leu2726Phe) c.8059C>T (p.Leu2687Phe) n.8528C>T | |
| 9 | g.77360607T>A | CA373861267 | VPS13A | c.8177T>A (p.Leu2726His) c.8060T>A (p.Leu2687His) n.8529T>A | |
| 9 | g.77360607T>C | CA373861268 | VPS13A | c.8177T>C (p.Leu2726Pro) c.8060T>C (p.Leu2687Pro) n.8529T>C | |
| 9 | g.77360607T>G | CA373861269 | VPS13A | c.8177T>G (p.Leu2726Arg) c.8060T>G (p.Leu2687Arg) n.8529T>G | |
| 9 | g.77360608T>A | CA465540736 | VPS13A | c.8178T>A (p.Leu2726=) c.8061T>A (p.Leu2687=) n.8530T>A | |
| 9 | g.77360608T>C | CA465540737 | VPS13A | c.8178T>C (p.Leu2726=) c.8061T>C (p.Leu2687=) n.8530T>C | |
| 9 | g.77360608T>G | CA465540735 | VPS13A | c.8178T>G (p.Leu2726=) c.8061T>G (p.Leu2687=) n.8530T>G | |
| 9 | g.77360609A>C | CA373861276 | VPS13A | c.8179A>C (p.Met2727Leu) c.8062A>C (p.Met2688Leu) n.8531A>C | |
| 9 | g.77360609A>G | CA373861274 | VPS13A | c.8179A>G (p.Met2727Val) c.8062A>G (p.Met2688Val) n.8531A>G | |
| 9 | g.77360609A>T | CA373861271 | VPS13A | c.8179A>T (p.Met2727Leu) c.8062A>T (p.Met2688Leu) n.8531A>T | |
| 9 | g.77360610T>A | CA373861279 | VPS13A | c.8180T>A (p.Met2727Lys) c.8063T>A (p.Met2688Lys) n.8532T>A | |
| 9 | g.77360610T>C | CA373861295 | VPS13A | c.8180T>C (p.Met2727Thr) c.8063T>C (p.Met2688Thr) n.8532T>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.77360610T>G | CA373861300 | VPS13A | c.8180T>G (p.Met2727Arg) c.8063T>G (p.Met2688Arg) n.8532T>G | |
| 9 | g.77360610T= | CA1857216870 | VPS13A | c.8180T= (p.Met2727=) c.8063T= (p.Met2688=) n.8532T= | |
| 9 | g.77360611G>A | CA373861304 | VPS13A | c.8181G>A (p.Met2727Ile) c.8064G>A (p.Met2688Ile) n.8533G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.77360611G>C | CA373861307 | VPS13A | c.8181G>C (p.Met2727Ile) c.8064G>C (p.Met2688Ile) n.8533G>C | |
| 9 | g.77360611G= | CA1857216871 | VPS13A | c.8181G= (p.Met2727=) c.8064G= (p.Met2688=) n.8533G= | |
| 9 | g.77360611G>T | CA373861308 | VPS13A | c.8181G>T (p.Met2727Ile) c.8064G>T (p.Met2688Ile) n.8533G>T | |
| 9 | g.77360612A= | CA1857216872 | VPS13A | c.8182A= (p.Thr2728=) c.8065A= (p.Thr2689=) n.8534A= | |
| 9 | g.77360612A>C | CA373861321 | VPS13A | c.8182A>C (p.Thr2728Pro) c.8065A>C (p.Thr2689Pro) n.8534A>C | |
| 9 | g.77360612A>G | CA373861319 | VPS13A | c.8182A>G (p.Thr2728Ala) c.8065A>G (p.Thr2689Ala) n.8534A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.77360612A>T | CA373861311 | VPS13A | c.8182A>T (p.Thr2728Ser) c.8065A>T (p.Thr2689Ser) n.8534A>T | |
| 9 | g.77360613C>A | CA373861326 | VPS13A | c.8183C>A (p.Thr2728Lys) c.8066C>A (p.Thr2689Lys) n.8535C>A | |
| 9 | g.77360613C>G | CA373861329 | VPS13A | c.8183C>G (p.Thr2728Arg) c.8066C>G (p.Thr2689Arg) n.8535C>G | |
| 9 | g.77360613C>T | CA373861331 | VPS13A | c.8183C>T (p.Thr2728Ile) c.8066C>T (p.Thr2689Ile) n.8535C>T | |
| 9 | g.77360614A= | CA1857216873 | VPS13A | c.8184A= (p.Thr2728=) c.8067A= (p.Thr2689=) n.8536A= | |
| 9 | g.77360614A>C | CA465540738 | VPS13A | c.8184A>C (p.Thr2728=) c.8067A>C (p.Thr2689=) n.8536A>C | |
| 9 | g.77360614A>G | CA465540740 | VPS13A | c.8184A>G (p.Thr2728=) c.8067A>G (p.Thr2689=) n.8536A>G | ClinVar dbSNP |
| 9 | g.77360614A>T | CA465540739 | VPS13A | c.8184A>T (p.Thr2728=) c.8067A>T (p.Thr2689=) n.8536A>T | |
| 9 | g.77360615_77360616del | CA2690376081 | VPS13A | c.8185_8186del (p.Glu2729SerfsTer2) c.8068_8069del (p.Glu2690SerfsTer2) n.8537_8538del | gnomAD v4 |
| 9 | g.77360615G>A | CA373861336 | VPS13A | c.8185G>A (p.Glu2729Lys) c.8068G>A (p.Glu2690Lys) n.8537G>A | COSMIC COSMIC |
| 9 | g.77360615G>C | CA373861338 | VPS13A | c.8185G>C (p.Glu2729Gln) c.8068G>C (p.Glu2690Gln) n.8537G>C | |
| 9 | g.77360615G>T | CA373861340 | VPS13A | c.8185G>T (p.Glu2729Ter) c.8068G>T (p.Glu2690Ter) n.8537G>T | |
| 9 | g.77360616A= | CA1857216874 | VPS13A | c.8186A= (p.Glu2729=) c.8069A= (p.Glu2690=) n.8538A= | |
| 9 | g.77360616A>C | CA373861345 | VPS13A | c.8186A>C (p.Glu2729Ala) c.8069A>C (p.Glu2690Ala) n.8538A>C | |
| 9 | g.77360616A>G | CA373861359 | VPS13A | c.8186A>G (p.Glu2729Gly) c.8069A>G (p.Glu2690Gly) n.8538A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.77360616A>T | CA373861347 | VPS13A | c.8186A>T (p.Glu2729Val) c.8069A>T (p.Glu2690Val) n.8538A>T | |
| 9 | g.77360617A= | CA1857216875 | VPS13A | c.8187A= (p.Glu2729=) c.8070A= (p.Glu2690=) n.8539A= | |
| 9 | g.77360617A>C | CA373861363 | VPS13A | c.8187A>C (p.Glu2729Asp) c.8070A>C (p.Glu2690Asp) n.8539A>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.77360617A>G | CA465540741 | VPS13A | c.8187A>G (p.Glu2729=) c.8070A>G (p.Glu2690=) n.8539A>G | |
| 9 | g.77360617A>T | CA373861364 | VPS13A | c.8187A>T (p.Glu2729Asp) c.8070A>T (p.Glu2690Asp) n.8539A>T | |
| 9 | g.77360618G>A | CA373861365 | VPS13A | c.8188G>A (p.Ala2730Thr) c.8071G>A (p.Ala2691Thr) n.8540G>A | |
| 9 | g.77360618G>C | CA373861366 | VPS13A | c.8188G>C (p.Ala2730Pro) c.8071G>C (p.Ala2691Pro) n.8540G>C | |
| 9 | g.77360618G>T | CA373861368 | VPS13A | c.8188G>T (p.Ala2730Ser) c.8071G>T (p.Ala2691Ser) n.8540G>T | |
| 9 | g.77360619C>A | CA373861369 | VPS13A | c.8189C>A (p.Ala2730Asp) c.8072C>A (p.Ala2691Asp) n.8541C>A | |
| 9 | g.77360619C= | CA1857216876 | VPS13A | c.8189C= (p.Ala2730=) c.8072C= (p.Ala2691=) n.8541C= | |
| 9 | g.77360619C>G | CA373861372 | VPS13A | c.8189C>G (p.Ala2730Gly) c.8072C>G (p.Ala2691Gly) n.8541C>G | |
| 9 | g.77360619C>T | CA5093558 | VPS13A | c.8189C>T (p.Ala2730Val) c.8072C>T (p.Ala2691Val) n.8541C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.77360620T>A | CA465540742 | VPS13A | c.8190T>A (p.Ala2730=) c.8073T>A (p.Ala2691=) n.8542T>A | |
| 9 | g.77360620T>C | CA465540744 | VPS13A | c.8190T>C (p.Ala2730=) c.8073T>C (p.Ala2691=) n.8542T>C | ClinVar dbSNP |
| 9 | g.77360620T>G | CA465540743 | VPS13A | c.8190T>G (p.Ala2730=) c.8073T>G (p.Ala2691=) n.8542T>G | |
| 9 | g.77360621G>A | CA373861381 | VPS13A | c.8191G>A (p.Glu2731Lys) c.8074G>A (p.Glu2692Lys) n.8543G>A | dbSNP gnomAD v2 |
| 9 | g.77360621G>C | CA373861384 | VPS13A | c.8191G>C (p.Glu2731Gln) c.8074G>C (p.Glu2692Gln) n.8543G>C | |
| 9 | g.77360621G= | CA1857216877 | VPS13A | c.8191G= (p.Glu2731=) c.8074G= (p.Glu2692=) n.8543G= | |
| 9 | g.77360621G>T | CA373861387 | VPS13A | c.8191G>T (p.Glu2731Ter) c.8074G>T (p.Glu2692Ter) n.8543G>T | gnomAD v4 |
| 9 | g.77360622del | CA2580080667 | VPS13A | c.8192del (p.Glu2731GlyfsTer2) c.8075del (p.Glu2692GlyfsTer2) n.8544del | ClinVar |
| 9 | g.77360622A>C | CA373861395 | VPS13A | c.8192A>C (p.Glu2731Ala) c.8075A>C (p.Glu2692Ala) n.8544A>C | |
| 9 | g.77360622A>G | CA373861413 | VPS13A | c.8192A>G (p.Glu2731Gly) c.8075A>G (p.Glu2692Gly) n.8544A>G | gnomAD v4 |
| 9 | g.77360622A>T | CA373861410 | VPS13A | c.8192A>T (p.Glu2731Val) c.8075A>T (p.Glu2692Val) n.8544A>T | |
| 9 | g.77360623G>A | CA465540745 | VPS13A | c.8193G>A (p.Glu2731=) c.8076G>A (p.Glu2692=) n.8545G>A | |
| 9 | g.77360623G>C | CA373861414 | VPS13A | c.8193G>C (p.Glu2731Asp) c.8076G>C (p.Glu2692Asp) n.8545G>C | |
| 9 | g.77360623G>T | CA373861415 | VPS13A | c.8193G>T (p.Glu2731Asp) c.8076G>T (p.Glu2692Asp) n.8545G>T | |
| 9 | g.77360624G>A | CA373861418 | VPS13A | c.8194G>A (p.Val2732Met) c.8077G>A (p.Val2693Met) n.8546G>A | |
| 9 | g.77360624G>C | CA373861420 | VPS13A | c.8194G>C (p.Val2732Leu) c.8077G>C (p.Val2693Leu) n.8546G>C | |
| 9 | g.77360624G>T | CA373861423 | VPS13A | c.8194G>T (p.Val2732Leu) c.8077G>T (p.Val2693Leu) n.8546G>T | |
| 9 | g.77360625T>A | CA373861426 | VPS13A | c.8195T>A (p.Val2732Glu) c.8078T>A (p.Val2693Glu) n.8547T>A | |
| 9 | g.77360625T>C | CA373861425 | VPS13A | c.8195T>C (p.Val2732Ala) c.8078T>C (p.Val2693Ala) n.8547T>C | |
| 9 | g.77360625T>G | CA373861424 | VPS13A | c.8195T>G (p.Val2732Gly) c.8078T>G (p.Val2693Gly) n.8547T>G | |
| 9 | g.77360626G>A | CA465540746 | VPS13A | c.8196G>A (p.Val2732=) c.8079G>A (p.Val2693=) n.8548G>A | |
| 9 | g.77360626G>C | CA465540747 | VPS13A | c.8196G>C (p.Val2732=) c.8079G>C (p.Val2693=) n.8548G>C | ClinVar |
| 9 | g.77360626G>T | CA465540748 | VPS13A | c.8196G>T (p.Val2732=) c.8079G>T (p.Val2693=) n.8548G>T | |
| 9 | g.77360627A>C | CA373861429 | VPS13A | c.8197A>C (p.Thr2733Pro) c.8080A>C (p.Thr2694Pro) n.8549A>C | |
| 9 | g.77360627A>G | CA373861434 | VPS13A | c.8197A>G (p.Thr2733Ala) c.8080A>G (p.Thr2694Ala) n.8549A>G | |
| 9 | g.77360627A>T | CA373861437 | VPS13A | c.8197A>T (p.Thr2733Ser) c.8080A>T (p.Thr2694Ser) n.8549A>T | |
| 9 | g.77360628C>A | CA373861439 | VPS13A | c.8198C>A (p.Thr2733Asn) c.8081C>A (p.Thr2694Asn) n.8550C>A | |
| 9 | g.77360628C= | CA1857216878 | VPS13A | c.8198C= (p.Thr2733=) c.8081C= (p.Thr2694=) n.8550C= | |
| 9 | g.77360628C>G | CA373861440 | VPS13A | c.8198C>G (p.Thr2733Ser) c.8081C>G (p.Thr2694Ser) n.8550C>G | |
| 9 | g.77360628C>T | CA373861441 | VPS13A | c.8198C>T (p.Thr2733Ile) c.8081C>T (p.Thr2694Ile) n.8550C>T | dbSNP |
| 9 | g.77360629T>A | CA465540749 | VPS13A | c.8199T>A (p.Thr2733=) c.8082T>A (p.Thr2694=) n.8551T>A | |
| 9 | g.77360629T>C | CA465540750 | VPS13A | c.8199T>C (p.Thr2733=) c.8082T>C (p.Thr2694=) n.8551T>C | ClinVar |
| 9 | g.77360629T>G | CA465540751 | VPS13A | c.8199T>G (p.Thr2733=) c.8082T>G (p.Thr2694=) n.8551T>G | |
| 9 | g.77360630G>A | CA373861446 | VPS13A | c.8200G>A (p.Glu2734Lys) c.8083G>A (p.Glu2695Lys) n.8552G>A | dbSNP gnomAD v4 |
| 9 | g.77360630G>C | CA373861442 | VPS13A | c.8200G>C (p.Glu2734Gln) c.8083G>C (p.Glu2695Gln) n.8552G>C | |
| 9 | g.77360630G>T | CA373861444 | VPS13A | c.8200G>T (p.Glu2734Ter) c.8083G>T (p.Glu2695Ter) n.8552G>T | |
| 9 | g.77360631A>C | CA373861448 | VPS13A | c.8201A>C (p.Glu2734Ala) c.8084A>C (p.Glu2695Ala) n.8553A>C | |
| 9 | g.77360631A>G | CA373861449 | VPS13A | c.8201A>G (p.Glu2734Gly) c.8084A>G (p.Glu2695Gly) n.8553A>G | gnomAD v4 |
| 9 | g.77360631A>T | CA373861450 | VPS13A | c.8201A>T (p.Glu2734Val) c.8084A>T (p.Glu2695Val) n.8553A>T | |
| 9 | g.77360632A>C | CA373861451 | VPS13A | c.8202A>C (p.Glu2734Asp) c.8085A>C (p.Glu2695Asp) n.8554A>C | gnomAD v4 |
| 9 | g.77360632A>G | CA465540752 | VPS13A | c.8202A>G (p.Glu2734=) c.8085A>G (p.Glu2695=) n.8554A>G | |
| 9 | g.77360632A>T | CA373861454 | VPS13A | c.8202A>T (p.Glu2734Asp) c.8085A>T (p.Glu2695Asp) n.8554A>T | |
| 9 | g.77360633A>C | CA373861455 | VPS13A | c.8203A>C (p.Asn2735His) c.8086A>C (p.Asn2696His) n.8555A>C | |
| 9 | g.77360633A>G | CA373861456 | VPS13A | c.8203A>G (p.Asn2735Asp) c.8086A>G (p.Asn2696Asp) n.8555A>G | |
| 9 | g.77360633A>T | CA373861457 | VPS13A | c.8203A>T (p.Asn2735Tyr) c.8086A>T (p.Asn2696Tyr) n.8555A>T | |
| 9 | g.77360634A>C | CA373861459 | VPS13A | c.8204A>C (p.Asn2735Thr) c.8087A>C (p.Asn2696Thr) n.8556A>C | |
| 9 | g.77360634A>G | CA373861460 | VPS13A | c.8204A>G (p.Asn2735Ser) c.8087A>G (p.Asn2696Ser) n.8556A>G | |
| 9 | g.77360634A>T | CA373861462 | VPS13A | c.8204A>T (p.Asn2735Ile) c.8087A>T (p.Asn2696Ile) n.8556A>T | COSMIC COSMIC COSMIC |
| 9 | g.77360635T>A | CA373861476 | VPS13A | c.8205T>A (p.Asn2735Lys) c.8088T>A (p.Asn2696Lys) n.8557T>A | |
| 9 | g.77360635T>C | CA465540753 | VPS13A | c.8205T>C (p.Asn2735=) c.8088T>C (p.Asn2696=) n.8557T>C | |
| 9 | g.77360635T>G | CA373861479 | VPS13A | c.8205T>G (p.Asn2735Lys) c.8088T>G (p.Asn2696Lys) n.8557T>G | |
| 9 | g.77360636A= | CA1857216879 | VPS13A | c.8206A= (p.Thr2736=) c.8089A= (p.Thr2697=) n.8558A= | |
| 9 | g.77360636A>C | CA373861482 | VPS13A | c.8206A>C (p.Thr2736Pro) c.8089A>C (p.Thr2697Pro) n.8558A>C | |
| 9 | g.77360636A>G | CA373861495 | VPS13A | c.8206A>G (p.Thr2736Ala) c.8089A>G (p.Thr2697Ala) n.8558A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.77360636A>T | CA373861494 | VPS13A | c.8206A>T (p.Thr2736Ser) c.8089A>T (p.Thr2697Ser) n.8558A>T | |
| 9 | g.77360637C>A | CA373861496 | VPS13A | c.8207C>A (p.Thr2736Lys) c.8090C>A (p.Thr2697Lys) n.8559C>A | gnomAD v4 |
| 9 | g.77360637C>G | CA373861497 | VPS13A | c.8207C>G (p.Thr2736Arg) c.8090C>G (p.Thr2697Arg) n.8559C>G | gnomAD v4 |
| 9 | g.77360637C>T | CA373861498 | VPS13A | c.8207C>T (p.Thr2736Ile) c.8090C>T (p.Thr2697Ile) n.8559C>T | |
| 9 | g.77360638A= | CA1857216880 | VPS13A | c.8208A= (p.Thr2736=) c.8091A= (p.Thr2697=) n.8560A= | |
| 9 | g.77360638A>C | CA465540754 | VPS13A | c.8208A>C (p.Thr2736=) c.8091A>C (p.Thr2697=) n.8560A>C | |
| 9 | g.77360638A>G | CA465540755 | VPS13A | c.8208A>G (p.Thr2736=) c.8091A>G (p.Thr2697=) n.8560A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.77360638A>T | CA465540756 | VPS13A | c.8208A>T (p.Thr2736=) c.8091A>T (p.Thr2697=) n.8560A>T | |
| 9 | g.77360639G>A | CA373861502 | VPS13A | c.8209G>A (p.Glu2737Lys) c.8092G>A (p.Glu2698Lys) n.8561G>A | gnomAD v4 |
| 9 | g.77360639G>C | CA373861504 | VPS13A | c.8209G>C (p.Glu2737Gln) c.8092G>C (p.Glu2698Gln) n.8561G>C | |
| 9 | g.77360639G= | CA1857216881 | VPS13A | c.8209G= (p.Glu2737=) c.8092G= (p.Glu2698=) n.8561G= | |
| 9 | g.77360639G>T | CA16603161 | VPS13A | c.8209G>T (p.Glu2737Ter) c.8092G>T (p.Glu2698Ter) n.8561G>T | ClinVar dbSNP |
| 9 | g.77360640A>C | CA373861511 | VPS13A | c.8210A>C (p.Glu2737Ala) c.8093A>C (p.Glu2698Ala) n.8562A>C | |
| 9 | g.77360640A>G | CA373861509 | VPS13A | c.8210A>G (p.Glu2737Gly) c.8093A>G (p.Glu2698Gly) n.8562A>G | |
| 9 | g.77360640A>T | CA373861510 | VPS13A | c.8210A>T (p.Glu2737Val) c.8093A>T (p.Glu2698Val) n.8562A>T |