Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.77360539T>A | CA373860626 | VPS13A | c.8109T>A (p.Tyr2703Ter) c.7992T>A (p.Tyr2664Ter) n.8461T>A | |
9 | g.77360539T>C | CA465540699 | VPS13A | c.8109T>C (p.Tyr2703=) c.7992T>C (p.Tyr2664=) n.8461T>C | |
9 | g.77360539T>G | CA373860631 | VPS13A | c.8109T>G (p.Tyr2703Ter) c.7992T>G (p.Tyr2664Ter) n.8461T>G | |
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 |