Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99769013_99776930del | CA1139660679 | VPS13B | c.7322+2043_7478del n.7392+2043_7548del c.*3004+2043_*3160del c.7247+2043_7403del n.377+2043_378-1752del c.7319+2043_7475del c.7244+2043_7400del c.6944+2043_7100del c.4208+2043_4364del c.3101+2043_3257del n.1830+5550_2065+1677del c.7127+2043_7283del c.2879+2043_3035del c.6107+2043_6263del | ClinVar |
8 | g.99776775C>A | CA371875534 | VPS13B | c.7323C>A (p.Ser2441Arg) n.7393C>A c.*3005C>A (n.*3005C>A) c.7248C>A (p.Ser2416Arg) n.378-1907C>A c.7320C>A (p.Ser2440Arg) c.7245C>A (p.Ser2415Arg) c.6945C>A (p.Ser2315Arg) c.4209C>A (p.Ser1403Arg) c.3102C>A (p.Ser1034Arg) n.1830+5703G>T c.7128C>A (p.Ser2376Arg) c.2880C>A (p.Ser960Arg) c.6108C>A (p.Ser2036Arg) | |
8 | g.99776775C>G | CA371875535 | VPS13B | c.7323C>G (p.Ser2441Arg) n.7393C>G c.*3005C>G (n.*3005C>G) c.7248C>G (p.Ser2416Arg) n.378-1907C>G c.7320C>G (p.Ser2440Arg) c.7245C>G (p.Ser2415Arg) c.6945C>G (p.Ser2315Arg) c.4209C>G (p.Ser1403Arg) c.3102C>G (p.Ser1034Arg) n.1830+5703G>C c.7128C>G (p.Ser2376Arg) c.2880C>G (p.Ser960Arg) c.6108C>G (p.Ser2036Arg) | |
8 | g.99776775C>T | CA10605252 | VPS13B | c.7323C>T (p.Ser2441=) n.7393C>T c.*3005C>T (n.*3005C>T) c.7248C>T (p.Ser2416=) n.378-1907C>T c.7320C>T (p.Ser2440=) c.7245C>T (p.Ser2415=) c.6945C>T (p.Ser2315=) c.4209C>T (p.Ser1403=) c.3102C>T (p.Ser1034=) n.1830+5703G>A c.7128C>T (p.Ser2376=) c.2880C>T (p.Ser960=) c.6108C>T (p.Ser2036=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776776T>A | CA371875536 | VPS13B | c.7324T>A (p.Ser2442Thr) n.7394T>A c.*3006T>A (n.*3006T>A) c.7249T>A (p.Ser2417Thr) n.378-1906T>A c.7321T>A (p.Ser2441Thr) c.7246T>A (p.Ser2416Thr) c.6946T>A (p.Ser2316Thr) c.4210T>A (p.Ser1404Thr) c.3103T>A (p.Ser1035Thr) n.1830+5702A>T c.7129T>A (p.Ser2377Thr) c.2881T>A (p.Ser961Thr) c.6109T>A (p.Ser2037Thr) | |
8 | g.99776776T>C | CA371875538 | VPS13B | c.7324T>C (p.Ser2442Pro) n.7394T>C c.*3006T>C (n.*3006T>C) c.7249T>C (p.Ser2417Pro) n.378-1906T>C c.7321T>C (p.Ser2441Pro) c.7246T>C (p.Ser2416Pro) c.6946T>C (p.Ser2316Pro) c.4210T>C (p.Ser1404Pro) c.3103T>C (p.Ser1035Pro) n.1830+5702A>G c.7129T>C (p.Ser2377Pro) c.2881T>C (p.Ser961Pro) c.6109T>C (p.Ser2037Pro) | |
8 | g.99776776T>G | CA371875537 | VPS13B | c.7324T>G (p.Ser2442Ala) n.7394T>G c.*3006T>G (n.*3006T>G) c.7249T>G (p.Ser2417Ala) n.378-1906T>G c.7321T>G (p.Ser2441Ala) c.7246T>G (p.Ser2416Ala) c.6946T>G (p.Ser2316Ala) c.4210T>G (p.Ser1404Ala) c.3103T>G (p.Ser1035Ala) n.1830+5702A>C c.7129T>G (p.Ser2377Ala) c.2881T>G (p.Ser961Ala) c.6109T>G (p.Ser2037Ala) | |
8 | g.99776777C>A | CA371875539 | VPS13B | c.7325C>A (p.Ser2442Tyr) n.7395C>A c.*3007C>A (n.*3007C>A) c.7250C>A (p.Ser2417Tyr) n.378-1905C>A c.7322C>A (p.Ser2441Tyr) c.7247C>A (p.Ser2416Tyr) c.6947C>A (p.Ser2316Tyr) c.4211C>A (p.Ser1404Tyr) c.3104C>A (p.Ser1035Tyr) n.1830+5701G>T c.7130C>A (p.Ser2377Tyr) c.2882C>A (p.Ser961Tyr) c.6110C>A (p.Ser2037Tyr) | dbSNP gnomAD v4 COSMIC COSMIC |
8 | g.99776777C>G | CA371875540 | VPS13B | c.7325C>G (p.Ser2442Cys) n.7395C>G c.*3007C>G (n.*3007C>G) c.7250C>G (p.Ser2417Cys) n.378-1905C>G c.7322C>G (p.Ser2441Cys) c.7247C>G (p.Ser2416Cys) c.6947C>G (p.Ser2316Cys) c.4211C>G (p.Ser1404Cys) c.3104C>G (p.Ser1035Cys) n.1830+5701G>C c.7130C>G (p.Ser2377Cys) c.2882C>G (p.Ser961Cys) c.6110C>G (p.Ser2037Cys) | |
8 | g.99776777C>T | CA371875541 | VPS13B | c.7325C>T (p.Ser2442Phe) n.7395C>T c.*3007C>T (n.*3007C>T) c.7250C>T (p.Ser2417Phe) n.378-1905C>T c.7322C>T (p.Ser2441Phe) c.7247C>T (p.Ser2416Phe) c.6947C>T (p.Ser2316Phe) c.4211C>T (p.Ser1404Phe) c.3104C>T (p.Ser1035Phe) n.1830+5701G>A c.7130C>T (p.Ser2377Phe) c.2882C>T (p.Ser961Phe) c.6110C>T (p.Ser2037Phe) | ClinVar |
8 | g.99776778T>A | CA462449130 | VPS13B | c.7326T>A (p.Ser2442=) n.7396T>A c.*3008T>A (n.*3008T>A) c.7251T>A (p.Ser2417=) n.378-1904T>A c.7323T>A (p.Ser2441=) c.7248T>A (p.Ser2416=) c.6948T>A (p.Ser2316=) c.4212T>A (p.Ser1404=) c.3105T>A (p.Ser1035=) n.1830+5700A>T c.7131T>A (p.Ser2377=) c.2883T>A (p.Ser961=) c.6111T>A (p.Ser2037=) | |
8 | g.99776778T>C | CA462449131 | VPS13B | c.7326T>C (p.Ser2442=) n.7396T>C c.*3008T>C (n.*3008T>C) c.7251T>C (p.Ser2417=) n.378-1904T>C c.7323T>C (p.Ser2441=) c.7248T>C (p.Ser2416=) c.6948T>C (p.Ser2316=) c.4212T>C (p.Ser1404=) c.3105T>C (p.Ser1035=) n.1830+5700A>G c.7131T>C (p.Ser2377=) c.2883T>C (p.Ser961=) c.6111T>C (p.Ser2037=) | |
8 | g.99776778T>G | CA462449132 | VPS13B | c.7326T>G (p.Ser2442=) n.7396T>G c.*3008T>G (n.*3008T>G) c.7251T>G (p.Ser2417=) n.378-1904T>G c.7323T>G (p.Ser2441=) c.7248T>G (p.Ser2416=) c.6948T>G (p.Ser2316=) c.4212T>G (p.Ser1404=) c.3105T>G (p.Ser1035=) n.1830+5700A>C c.7131T>G (p.Ser2377=) c.2883T>G (p.Ser961=) c.6111T>G (p.Ser2037=) | |
8 | g.99776779G>A | CA371875542 | VPS13B | c.7327G>A (p.Ala2443Thr) n.7397G>A c.*3009G>A (n.*3009G>A) c.7252G>A (p.Ala2418Thr) n.378-1903G>A c.7324G>A (p.Ala2442Thr) c.7249G>A (p.Ala2417Thr) c.6949G>A (p.Ala2317Thr) c.4213G>A (p.Ala1405Thr) c.3106G>A (p.Ala1036Thr) n.1830+5699C>T c.7132G>A (p.Ala2378Thr) c.2884G>A (p.Ala962Thr) c.6112G>A (p.Ala2038Thr) | |
8 | g.99776779G>C | CA371875543 | VPS13B | c.7327G>C (p.Ala2443Pro) n.7397G>C c.*3009G>C (n.*3009G>C) c.7252G>C (p.Ala2418Pro) n.378-1903G>C c.7324G>C (p.Ala2442Pro) c.7249G>C (p.Ala2417Pro) c.6949G>C (p.Ala2317Pro) c.4213G>C (p.Ala1405Pro) c.3106G>C (p.Ala1036Pro) n.1830+5699C>G c.7132G>C (p.Ala2378Pro) c.2884G>C (p.Ala962Pro) c.6112G>C (p.Ala2038Pro) | |
8 | g.99776779G>T | CA371875544 | VPS13B | c.7327G>T (p.Ala2443Ser) n.7397G>T c.*3009G>T (n.*3009G>T) c.7252G>T (p.Ala2418Ser) n.378-1903G>T c.7324G>T (p.Ala2442Ser) c.7249G>T (p.Ala2417Ser) c.6949G>T (p.Ala2317Ser) c.4213G>T (p.Ala1405Ser) c.3106G>T (p.Ala1036Ser) n.1830+5699C>A c.7132G>T (p.Ala2378Ser) c.2884G>T (p.Ala962Ser) c.6112G>T (p.Ala2038Ser) | gnomAD v4 |
8 | g.99776780C>A | CA371875545 | VPS13B | c.7328C>A (p.Ala2443Glu) n.7398C>A c.*3010C>A (n.*3010C>A) c.7253C>A (p.Ala2418Glu) n.378-1902C>A c.7325C>A (p.Ala2442Glu) c.7250C>A (p.Ala2417Glu) c.6950C>A (p.Ala2317Glu) c.4214C>A (p.Ala1405Glu) c.3107C>A (p.Ala1036Glu) n.1830+5698G>T c.7133C>A (p.Ala2378Glu) c.2885C>A (p.Ala962Glu) c.6113C>A (p.Ala2038Glu) | |
8 | g.99776780C>G | CA371875546 | VPS13B | c.7328C>G (p.Ala2443Gly) n.7398C>G c.*3010C>G (n.*3010C>G) c.7253C>G (p.Ala2418Gly) n.378-1902C>G c.7325C>G (p.Ala2442Gly) c.7250C>G (p.Ala2417Gly) c.6950C>G (p.Ala2317Gly) c.4214C>G (p.Ala1405Gly) c.3107C>G (p.Ala1036Gly) n.1830+5698G>C c.7133C>G (p.Ala2378Gly) c.2885C>G (p.Ala962Gly) c.6113C>G (p.Ala2038Gly) | |
8 | g.99776780C>T | CA371875547 | VPS13B | c.7328C>T (p.Ala2443Val) n.7398C>T c.*3010C>T (n.*3010C>T) c.7253C>T (p.Ala2418Val) n.378-1902C>T c.7325C>T (p.Ala2442Val) c.7250C>T (p.Ala2417Val) c.6950C>T (p.Ala2317Val) c.4214C>T (p.Ala1405Val) c.3107C>T (p.Ala1036Val) n.1830+5698G>A c.7133C>T (p.Ala2378Val) c.2885C>T (p.Ala962Val) c.6113C>T (p.Ala2038Val) | |
8 | g.99776781A>C | CA462449133 | VPS13B | c.7329A>C (p.Ala2443=) n.7399A>C c.*3011A>C (n.*3011A>C) c.7254A>C (p.Ala2418=) n.378-1901A>C c.7326A>C (p.Ala2442=) c.7251A>C (p.Ala2417=) c.6951A>C (p.Ala2317=) c.4215A>C (p.Ala1405=) c.3108A>C (p.Ala1036=) n.1830+5697T>G c.7134A>C (p.Ala2378=) c.2886A>C (p.Ala962=) c.6114A>C (p.Ala2038=) | |
8 | g.99776781A>G | CA462449134 | VPS13B | c.7329A>G (p.Ala2443=) n.7399A>G c.*3011A>G (n.*3011A>G) c.7254A>G (p.Ala2418=) n.378-1901A>G c.7326A>G (p.Ala2442=) c.7251A>G (p.Ala2417=) c.6951A>G (p.Ala2317=) c.4215A>G (p.Ala1405=) c.3108A>G (p.Ala1036=) n.1830+5697T>C c.7134A>G (p.Ala2378=) c.2886A>G (p.Ala962=) c.6114A>G (p.Ala2038=) | |
8 | g.99776781A>T | CA462449135 | VPS13B | c.7329A>T (p.Ala2443=) n.7399A>T c.*3011A>T (n.*3011A>T) c.7254A>T (p.Ala2418=) n.378-1901A>T c.7326A>T (p.Ala2442=) c.7251A>T (p.Ala2417=) c.6951A>T (p.Ala2317=) c.4215A>T (p.Ala1405=) c.3108A>T (p.Ala1036=) n.1830+5697T>A c.7134A>T (p.Ala2378=) c.2886A>T (p.Ala962=) c.6114A>T (p.Ala2038=) | |
8 | g.99776782A>C | CA371875548 | VPS13B | c.7330A>C (p.Ser2444Arg) n.7400A>C c.*3012A>C (n.*3012A>C) c.7255A>C (p.Ser2419Arg) n.378-1900A>C c.7327A>C (p.Ser2443Arg) c.7252A>C (p.Ser2418Arg) c.6952A>C (p.Ser2318Arg) c.4216A>C (p.Ser1406Arg) c.3109A>C (p.Ser1037Arg) n.1830+5696T>G c.7135A>C (p.Ser2379Arg) c.2887A>C (p.Ser963Arg) c.6115A>C (p.Ser2039Arg) | |
8 | g.99776782A>G | CA371875549 | VPS13B | c.7330A>G (p.Ser2444Gly) n.7400A>G c.*3012A>G (n.*3012A>G) c.7255A>G (p.Ser2419Gly) n.378-1900A>G c.7327A>G (p.Ser2443Gly) c.7252A>G (p.Ser2418Gly) c.6952A>G (p.Ser2318Gly) c.4216A>G (p.Ser1406Gly) c.3109A>G (p.Ser1037Gly) n.1830+5696T>C c.7135A>G (p.Ser2379Gly) c.2887A>G (p.Ser963Gly) c.6115A>G (p.Ser2039Gly) | dbSNP |
8 | g.99776782A>T | CA371875550 | VPS13B | c.7330A>T (p.Ser2444Cys) n.7400A>T c.*3012A>T (n.*3012A>T) c.7255A>T (p.Ser2419Cys) n.378-1900A>T c.7327A>T (p.Ser2443Cys) c.7252A>T (p.Ser2418Cys) c.6952A>T (p.Ser2318Cys) c.4216A>T (p.Ser1406Cys) c.3109A>T (p.Ser1037Cys) n.1830+5696T>A c.7135A>T (p.Ser2379Cys) c.2887A>T (p.Ser963Cys) c.6115A>T (p.Ser2039Cys) | |
8 | g.99776783G>A | CA183041700 | VPS13B | c.7331G>A (p.Ser2444Asn) n.7401G>A c.*3013G>A (n.*3013G>A) c.7256G>A (p.Ser2419Asn) n.378-1899G>A c.7328G>A (p.Ser2443Asn) c.7253G>A (p.Ser2418Asn) c.6953G>A (p.Ser2318Asn) c.4217G>A (p.Ser1406Asn) c.3110G>A (p.Ser1037Asn) n.1830+5695C>T c.7136G>A (p.Ser2379Asn) c.2888G>A (p.Ser963Asn) c.6116G>A (p.Ser2039Asn) | dbSNP |
8 | g.99776783G>C | CA371875552 | VPS13B | c.7331G>C (p.Ser2444Thr) n.7401G>C c.*3013G>C (n.*3013G>C) c.7256G>C (p.Ser2419Thr) n.378-1899G>C c.7328G>C (p.Ser2443Thr) c.7253G>C (p.Ser2418Thr) c.6953G>C (p.Ser2318Thr) c.4217G>C (p.Ser1406Thr) c.3110G>C (p.Ser1037Thr) n.1830+5695C>G c.7136G>C (p.Ser2379Thr) c.2888G>C (p.Ser963Thr) c.6116G>C (p.Ser2039Thr) | |
8 | g.99776783G>T | CA371875551 | VPS13B | c.7331G>T (p.Ser2444Ile) n.7401G>T c.*3013G>T (n.*3013G>T) c.7256G>T (p.Ser2419Ile) n.378-1899G>T c.7328G>T (p.Ser2443Ile) c.7253G>T (p.Ser2418Ile) c.6953G>T (p.Ser2318Ile) c.4217G>T (p.Ser1406Ile) c.3110G>T (p.Ser1037Ile) n.1830+5695C>A c.7136G>T (p.Ser2379Ile) c.2888G>T (p.Ser963Ile) c.6116G>T (p.Ser2039Ile) | gnomAD v4 |
8 | g.99776784T>A | CA371875553 | VPS13B | c.7332T>A (p.Ser2444Arg) n.7402T>A c.*3014T>A (n.*3014T>A) c.7257T>A (p.Ser2419Arg) n.378-1898T>A c.7329T>A (p.Ser2443Arg) c.7254T>A (p.Ser2418Arg) c.6954T>A (p.Ser2318Arg) c.4218T>A (p.Ser1406Arg) c.3111T>A (p.Ser1037Arg) n.1830+5694A>T c.7137T>A (p.Ser2379Arg) c.2889T>A (p.Ser963Arg) c.6117T>A (p.Ser2039Arg) | |
8 | g.99776784T>C | CA462449136 | VPS13B | c.7332T>C (p.Ser2444=) n.7402T>C c.*3014T>C (n.*3014T>C) c.7257T>C (p.Ser2419=) n.378-1898T>C c.7329T>C (p.Ser2443=) c.7254T>C (p.Ser2418=) c.6954T>C (p.Ser2318=) c.4218T>C (p.Ser1406=) c.3111T>C (p.Ser1037=) n.1830+5694A>G c.7137T>C (p.Ser2379=) c.2889T>C (p.Ser963=) c.6117T>C (p.Ser2039=) | |
8 | g.99776784T>G | CA371875554 | VPS13B | c.7332T>G (p.Ser2444Arg) n.7402T>G c.*3014T>G (n.*3014T>G) c.7257T>G (p.Ser2419Arg) n.378-1898T>G c.7329T>G (p.Ser2443Arg) c.7254T>G (p.Ser2418Arg) c.6954T>G (p.Ser2318Arg) c.4218T>G (p.Ser1406Arg) c.3111T>G (p.Ser1037Arg) n.1830+5694A>C c.7137T>G (p.Ser2379Arg) c.2889T>G (p.Ser963Arg) c.6117T>G (p.Ser2039Arg) | gnomAD v4 |
8 | g.99776785G>A | CA371875555 | VPS13B | c.7333G>A (p.Glu2445Lys) n.7403G>A c.*3015G>A (n.*3015G>A) c.7258G>A (p.Glu2420Lys) n.378-1897G>A c.7330G>A (p.Glu2444Lys) c.7255G>A (p.Glu2419Lys) c.6955G>A (p.Glu2319Lys) c.4219G>A (p.Glu1407Lys) c.3112G>A (p.Glu1038Lys) n.1830+5693C>T c.7138G>A (p.Glu2380Lys) c.2890G>A (p.Glu964Lys) c.6118G>A (p.Glu2040Lys) | dbSNP gnomAD v4 |
8 | g.99776785G>C | CA371875556 | VPS13B | c.7333G>C (p.Glu2445Gln) n.7403G>C c.*3015G>C (n.*3015G>C) c.7258G>C (p.Glu2420Gln) n.378-1897G>C c.7330G>C (p.Glu2444Gln) c.7255G>C (p.Glu2419Gln) c.6955G>C (p.Glu2319Gln) c.4219G>C (p.Glu1407Gln) c.3112G>C (p.Glu1038Gln) n.1830+5693C>G c.7138G>C (p.Glu2380Gln) c.2890G>C (p.Glu964Gln) c.6118G>C (p.Glu2040Gln) | |
8 | g.99776785G>T | CA371875557 | VPS13B | c.7333G>T (p.Glu2445Ter) n.7403G>T c.*3015G>T (n.*3015G>T) c.7258G>T (p.Glu2420Ter) n.378-1897G>T c.7330G>T (p.Glu2444Ter) c.7255G>T (p.Glu2419Ter) c.6955G>T (p.Glu2319Ter) c.4219G>T (p.Glu1407Ter) c.3112G>T (p.Glu1038Ter) n.1830+5693C>A c.7138G>T (p.Glu2380Ter) c.2890G>T (p.Glu964Ter) c.6118G>T (p.Glu2040Ter) | gnomAD v4 |
8 | g.99776786A>C | CA371875560 | VPS13B | c.7334A>C (p.Glu2445Ala) n.7404A>C c.*3016A>C (n.*3016A>C) c.7259A>C (p.Glu2420Ala) n.378-1896A>C c.7331A>C (p.Glu2444Ala) c.7256A>C (p.Glu2419Ala) c.6956A>C (p.Glu2319Ala) c.4220A>C (p.Glu1407Ala) c.3113A>C (p.Glu1038Ala) n.1830+5692T>G c.7139A>C (p.Glu2380Ala) c.2891A>C (p.Glu964Ala) c.6119A>C (p.Glu2040Ala) | |
8 | g.99776786A>G | CA371875558 | VPS13B | c.7334A>G (p.Glu2445Gly) n.7404A>G c.*3016A>G (n.*3016A>G) c.7259A>G (p.Glu2420Gly) n.378-1896A>G c.7331A>G (p.Glu2444Gly) c.7256A>G (p.Glu2419Gly) c.6956A>G (p.Glu2319Gly) c.4220A>G (p.Glu1407Gly) c.3113A>G (p.Glu1038Gly) n.1830+5692T>C c.7139A>G (p.Glu2380Gly) c.2891A>G (p.Glu964Gly) c.6119A>G (p.Glu2040Gly) | ClinVar dbSNP gnomAD v4 |
8 | g.99776786A>T | CA371875559 | VPS13B | c.7334A>T (p.Glu2445Val) n.7404A>T c.*3016A>T (n.*3016A>T) c.7259A>T (p.Glu2420Val) n.378-1896A>T c.7331A>T (p.Glu2444Val) c.7256A>T (p.Glu2419Val) c.6956A>T (p.Glu2319Val) c.4220A>T (p.Glu1407Val) c.3113A>T (p.Glu1038Val) n.1830+5692T>A c.7139A>T (p.Glu2380Val) c.2891A>T (p.Glu964Val) c.6119A>T (p.Glu2040Val) | |
8 | g.99776787G>A | CA462449137 | VPS13B | c.7335G>A (p.Glu2445=) n.7405G>A c.*3017G>A (n.*3017G>A) c.7260G>A (p.Glu2420=) n.378-1895G>A c.7332G>A (p.Glu2444=) c.7257G>A (p.Glu2419=) c.6957G>A (p.Glu2319=) c.4221G>A (p.Glu1407=) c.3114G>A (p.Glu1038=) n.1830+5691C>T c.7140G>A (p.Glu2380=) c.2892G>A (p.Glu964=) c.6120G>A (p.Glu2040=) | |
8 | g.99776787G>C | CA371875561 | VPS13B | c.7335G>C (p.Glu2445Asp) n.7405G>C c.*3017G>C (n.*3017G>C) c.7260G>C (p.Glu2420Asp) n.378-1895G>C c.7332G>C (p.Glu2444Asp) c.7257G>C (p.Glu2419Asp) c.6957G>C (p.Glu2319Asp) c.4221G>C (p.Glu1407Asp) c.3114G>C (p.Glu1038Asp) n.1830+5691C>G c.7140G>C (p.Glu2380Asp) c.2892G>C (p.Glu964Asp) c.6120G>C (p.Glu2040Asp) | |
8 | g.99776787G>T | CA371875562 | VPS13B | c.7335G>T (p.Glu2445Asp) n.7405G>T c.*3017G>T (n.*3017G>T) c.7260G>T (p.Glu2420Asp) n.378-1895G>T c.7332G>T (p.Glu2444Asp) c.7257G>T (p.Glu2419Asp) c.6957G>T (p.Glu2319Asp) c.4221G>T (p.Glu1407Asp) c.3114G>T (p.Glu1038Asp) n.1830+5691C>A c.7140G>T (p.Glu2380Asp) c.2892G>T (p.Glu964Asp) c.6120G>T (p.Glu2040Asp) | gnomAD v4 |
8 | g.99776788T>A | CA371875563 | VPS13B | c.7336T>A (p.Ser2446Thr) n.7406T>A c.*3018T>A (n.*3018T>A) c.7261T>A (p.Ser2421Thr) n.378-1894T>A c.7333T>A (p.Ser2445Thr) c.7258T>A (p.Ser2420Thr) c.6958T>A (p.Ser2320Thr) c.4222T>A (p.Ser1408Thr) c.3115T>A (p.Ser1039Thr) n.1830+5690A>T c.7141T>A (p.Ser2381Thr) c.2893T>A (p.Ser965Thr) c.6121T>A (p.Ser2041Thr) | |
8 | g.99776788T>C | CA371875564 | VPS13B | c.7336T>C (p.Ser2446Pro) n.7406T>C c.*3018T>C (n.*3018T>C) c.7261T>C (p.Ser2421Pro) n.378-1894T>C c.7333T>C (p.Ser2445Pro) c.7258T>C (p.Ser2420Pro) c.6958T>C (p.Ser2320Pro) c.4222T>C (p.Ser1408Pro) c.3115T>C (p.Ser1039Pro) n.1830+5690A>G c.7141T>C (p.Ser2381Pro) c.2893T>C (p.Ser965Pro) c.6121T>C (p.Ser2041Pro) | |
8 | g.99776788T>G | CA371875565 | VPS13B | c.7336T>G (p.Ser2446Ala) n.7406T>G c.*3018T>G (n.*3018T>G) c.7261T>G (p.Ser2421Ala) n.378-1894T>G c.7333T>G (p.Ser2445Ala) c.7258T>G (p.Ser2420Ala) c.6958T>G (p.Ser2320Ala) c.4222T>G (p.Ser1408Ala) c.3115T>G (p.Ser1039Ala) n.1830+5690A>C c.7141T>G (p.Ser2381Ala) c.2893T>G (p.Ser965Ala) c.6121T>G (p.Ser2041Ala) | |
8 | g.99776789C>A | CA371875566 | VPS13B | c.7337C>A (p.Ser2446Tyr) n.7407C>A c.*3019C>A (n.*3019C>A) c.7262C>A (p.Ser2421Tyr) n.378-1893C>A c.7334C>A (p.Ser2445Tyr) c.7259C>A (p.Ser2420Tyr) c.6959C>A (p.Ser2320Tyr) c.4223C>A (p.Ser1408Tyr) c.3116C>A (p.Ser1039Tyr) n.1830+5689G>T c.7142C>A (p.Ser2381Tyr) c.2894C>A (p.Ser965Tyr) c.6122C>A (p.Ser2041Tyr) | |
8 | g.99776789C>G | CA183041702 | VPS13B | c.7337C>G (p.Ser2446Cys) n.7407C>G c.*3019C>G (n.*3019C>G) c.7262C>G (p.Ser2421Cys) n.378-1893C>G c.7334C>G (p.Ser2445Cys) c.7259C>G (p.Ser2420Cys) c.6959C>G (p.Ser2320Cys) c.4223C>G (p.Ser1408Cys) c.3116C>G (p.Ser1039Cys) n.1830+5689G>C c.7142C>G (p.Ser2381Cys) c.2894C>G (p.Ser965Cys) c.6122C>G (p.Ser2041Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776789C>T | CA371875567 | VPS13B | c.7337C>T (p.Ser2446Phe) n.7407C>T c.*3019C>T (n.*3019C>T) c.7262C>T (p.Ser2421Phe) n.378-1893C>T c.7334C>T (p.Ser2445Phe) c.7259C>T (p.Ser2420Phe) c.6959C>T (p.Ser2320Phe) c.4223C>T (p.Ser1408Phe) c.3116C>T (p.Ser1039Phe) n.1830+5689G>A c.7142C>T (p.Ser2381Phe) c.2894C>T (p.Ser965Phe) c.6122C>T (p.Ser2041Phe) | |
8 | g.99776790T>A | CA462449138 | VPS13B | c.7338T>A (p.Ser2446=) n.7408T>A c.*3020T>A (n.*3020T>A) c.7263T>A (p.Ser2421=) n.378-1892T>A c.7335T>A (p.Ser2445=) c.7260T>A (p.Ser2420=) c.6960T>A (p.Ser2320=) c.4224T>A (p.Ser1408=) c.3117T>A (p.Ser1039=) n.1830+5688A>T c.7143T>A (p.Ser2381=) c.2895T>A (p.Ser965=) c.6123T>A (p.Ser2041=) | |
8 | g.99776790T>C | CA462449139 | VPS13B | c.7338T>C (p.Ser2446=) n.7408T>C c.*3020T>C (n.*3020T>C) c.7263T>C (p.Ser2421=) n.378-1892T>C c.7335T>C (p.Ser2445=) c.7260T>C (p.Ser2420=) c.6960T>C (p.Ser2320=) c.4224T>C (p.Ser1408=) c.3117T>C (p.Ser1039=) n.1830+5688A>G c.7143T>C (p.Ser2381=) c.2895T>C (p.Ser965=) c.6123T>C (p.Ser2041=) | ClinVar |
8 | g.99776790T>G | CA462449140 | VPS13B | c.7338T>G (p.Ser2446=) n.7408T>G c.*3020T>G (n.*3020T>G) c.7263T>G (p.Ser2421=) n.378-1892T>G c.7335T>G (p.Ser2445=) c.7260T>G (p.Ser2420=) c.6960T>G (p.Ser2320=) c.4224T>G (p.Ser1408=) c.3117T>G (p.Ser1039=) n.1830+5688A>C c.7143T>G (p.Ser2381=) c.2895T>G (p.Ser965=) c.6123T>G (p.Ser2041=) | |
8 | g.99776791G>A | CA371875568 | VPS13B | c.7339G>A (p.Gly2447Ser) n.7409G>A c.*3021G>A (n.*3021G>A) c.7264G>A (p.Gly2422Ser) n.378-1891G>A c.7336G>A (p.Gly2446Ser) c.7261G>A (p.Gly2421Ser) c.6961G>A (p.Gly2321Ser) c.4225G>A (p.Gly1409Ser) c.3118G>A (p.Gly1040Ser) n.1830+5687C>T c.7144G>A (p.Gly2382Ser) c.2896G>A (p.Gly966Ser) c.6124G>A (p.Gly2042Ser) | |
8 | g.99776791G>C | CA371875570 | VPS13B | c.7339G>C (p.Gly2447Arg) n.7409G>C c.*3021G>C (n.*3021G>C) c.7264G>C (p.Gly2422Arg) n.378-1891G>C c.7336G>C (p.Gly2446Arg) c.7261G>C (p.Gly2421Arg) c.6961G>C (p.Gly2321Arg) c.4225G>C (p.Gly1409Arg) c.3118G>C (p.Gly1040Arg) n.1830+5687C>G c.7144G>C (p.Gly2382Arg) c.2896G>C (p.Gly966Arg) c.6124G>C (p.Gly2042Arg) | |
8 | g.99776791G>T | CA371875569 | VPS13B | c.7339G>T (p.Gly2447Cys) n.7409G>T c.*3021G>T (n.*3021G>T) c.7264G>T (p.Gly2422Cys) n.378-1891G>T c.7336G>T (p.Gly2446Cys) c.7261G>T (p.Gly2421Cys) c.6961G>T (p.Gly2321Cys) c.4225G>T (p.Gly1409Cys) c.3118G>T (p.Gly1040Cys) n.1830+5687C>A c.7144G>T (p.Gly2382Cys) c.2896G>T (p.Gly966Cys) c.6124G>T (p.Gly2042Cys) | |
8 | g.99776792G>A | CA371875571 | VPS13B | c.7340G>A (p.Gly2447Asp) n.7410G>A c.*3022G>A (n.*3022G>A) c.7265G>A (p.Gly2422Asp) n.378-1890G>A c.7337G>A (p.Gly2446Asp) c.7262G>A (p.Gly2421Asp) c.6962G>A (p.Gly2321Asp) c.4226G>A (p.Gly1409Asp) c.3119G>A (p.Gly1040Asp) n.1830+5686C>T c.7145G>A (p.Gly2382Asp) c.2897G>A (p.Gly966Asp) c.6125G>A (p.Gly2042Asp) | |
8 | g.99776792G>C | CA371875572 | VPS13B | c.7340G>C (p.Gly2447Ala) n.7410G>C c.*3022G>C (n.*3022G>C) c.7265G>C (p.Gly2422Ala) n.378-1890G>C c.7337G>C (p.Gly2446Ala) c.7262G>C (p.Gly2421Ala) c.6962G>C (p.Gly2321Ala) c.4226G>C (p.Gly1409Ala) c.3119G>C (p.Gly1040Ala) n.1830+5686C>G c.7145G>C (p.Gly2382Ala) c.2897G>C (p.Gly966Ala) c.6125G>C (p.Gly2042Ala) | |
8 | g.99776792G>T | CA371875573 | VPS13B | c.7340G>T (p.Gly2447Val) n.7410G>T c.*3022G>T (n.*3022G>T) c.7265G>T (p.Gly2422Val) n.378-1890G>T c.7337G>T (p.Gly2446Val) c.7262G>T (p.Gly2421Val) c.6962G>T (p.Gly2321Val) c.4226G>T (p.Gly1409Val) c.3119G>T (p.Gly1040Val) n.1830+5686C>A c.7145G>T (p.Gly2382Val) c.2897G>T (p.Gly966Val) c.6125G>T (p.Gly2042Val) | |
8 | g.99776793T>A | CA462449141 | VPS13B | c.7341T>A (p.Gly2447=) n.7411T>A c.*3023T>A (n.*3023T>A) c.7266T>A (p.Gly2422=) n.378-1889T>A c.7338T>A (p.Gly2446=) c.7263T>A (p.Gly2421=) c.6963T>A (p.Gly2321=) c.4227T>A (p.Gly1409=) c.3120T>A (p.Gly1040=) n.1830+5685A>T c.7146T>A (p.Gly2382=) c.2898T>A (p.Gly966=) c.6126T>A (p.Gly2042=) | |
8 | g.99776793T>C | CA4824186 | VPS13B | c.7341T>C (p.Gly2447=) n.7411T>C c.*3023T>C (n.*3023T>C) c.7266T>C (p.Gly2422=) n.378-1889T>C c.7338T>C (p.Gly2446=) c.7263T>C (p.Gly2421=) c.6963T>C (p.Gly2321=) c.4227T>C (p.Gly1409=) c.3120T>C (p.Gly1040=) n.1830+5685A>G c.7146T>C (p.Gly2382=) c.2898T>C (p.Gly966=) c.6126T>C (p.Gly2042=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776793T>G | CA462449142 | VPS13B | c.7341T>G (p.Gly2447=) n.7411T>G c.*3023T>G (n.*3023T>G) c.7266T>G (p.Gly2422=) n.378-1889T>G c.7338T>G (p.Gly2446=) c.7263T>G (p.Gly2421=) c.6963T>G (p.Gly2321=) c.4227T>G (p.Gly1409=) c.3120T>G (p.Gly1040=) n.1830+5685A>C c.7146T>G (p.Gly2382=) c.2898T>G (p.Gly966=) c.6126T>G (p.Gly2042=) | |
8 | g.99776794T>A | CA371875574 | VPS13B | c.7342T>A (p.Ser2448Thr) n.7412T>A c.*3024T>A (n.*3024T>A) c.7267T>A (p.Ser2423Thr) n.378-1888T>A c.7339T>A (p.Ser2447Thr) c.7264T>A (p.Ser2422Thr) c.6964T>A (p.Ser2322Thr) c.4228T>A (p.Ser1410Thr) c.3121T>A (p.Ser1041Thr) n.1830+5684A>T c.7147T>A (p.Ser2383Thr) c.2899T>A (p.Ser967Thr) c.6127T>A (p.Ser2043Thr) | |
8 | g.99776794T>C | CA371875575 | VPS13B | c.7342T>C (p.Ser2448Pro) n.7412T>C c.*3024T>C (n.*3024T>C) c.7267T>C (p.Ser2423Pro) n.378-1888T>C c.7339T>C (p.Ser2447Pro) c.7264T>C (p.Ser2422Pro) c.6964T>C (p.Ser2322Pro) c.4228T>C (p.Ser1410Pro) c.3121T>C (p.Ser1041Pro) n.1830+5684A>G c.7147T>C (p.Ser2383Pro) c.2899T>C (p.Ser967Pro) c.6127T>C (p.Ser2043Pro) | |
8 | g.99776794T>G | CA371875576 | VPS13B | c.7342T>G (p.Ser2448Ala) n.7412T>G c.*3024T>G (n.*3024T>G) c.7267T>G (p.Ser2423Ala) n.378-1888T>G c.7339T>G (p.Ser2447Ala) c.7264T>G (p.Ser2422Ala) c.6964T>G (p.Ser2322Ala) c.4228T>G (p.Ser1410Ala) c.3121T>G (p.Ser1041Ala) n.1830+5684A>C c.7147T>G (p.Ser2383Ala) c.2899T>G (p.Ser967Ala) c.6127T>G (p.Ser2043Ala) | |
8 | g.99776795C>A | CA371875577 | VPS13B | c.7343C>A (p.Ser2448Tyr) n.7413C>A c.*3025C>A (n.*3025C>A) c.7268C>A (p.Ser2423Tyr) n.378-1887C>A c.7340C>A (p.Ser2447Tyr) c.7265C>A (p.Ser2422Tyr) c.6965C>A (p.Ser2322Tyr) c.4229C>A (p.Ser1410Tyr) c.3122C>A (p.Ser1041Tyr) n.1830+5683G>T c.7148C>A (p.Ser2383Tyr) c.2900C>A (p.Ser967Tyr) c.6128C>A (p.Ser2043Tyr) | |
8 | g.99776795C>G | CA371875578 | VPS13B | c.7343C>G (p.Ser2448Cys) n.7413C>G c.*3025C>G (n.*3025C>G) c.7268C>G (p.Ser2423Cys) n.378-1887C>G c.7340C>G (p.Ser2447Cys) c.7265C>G (p.Ser2422Cys) c.6965C>G (p.Ser2322Cys) c.4229C>G (p.Ser1410Cys) c.3122C>G (p.Ser1041Cys) n.1830+5683G>C c.7148C>G (p.Ser2383Cys) c.2900C>G (p.Ser967Cys) c.6128C>G (p.Ser2043Cys) | |
8 | g.99776795C>T | CA371875579 | VPS13B | c.7343C>T (p.Ser2448Phe) n.7413C>T c.*3025C>T (n.*3025C>T) c.7268C>T (p.Ser2423Phe) n.378-1887C>T c.7340C>T (p.Ser2447Phe) c.7265C>T (p.Ser2422Phe) c.6965C>T (p.Ser2322Phe) c.4229C>T (p.Ser1410Phe) c.3122C>T (p.Ser1041Phe) n.1830+5683G>A c.7148C>T (p.Ser2383Phe) c.2900C>T (p.Ser967Phe) c.6128C>T (p.Ser2043Phe) | |
8 | g.99776796T>A | CA462449143 | VPS13B | c.7344T>A (p.Ser2448=) n.7414T>A c.*3026T>A (n.*3026T>A) c.7269T>A (p.Ser2423=) n.378-1886T>A c.7341T>A (p.Ser2447=) c.7266T>A (p.Ser2422=) c.6966T>A (p.Ser2322=) c.4230T>A (p.Ser1410=) c.3123T>A (p.Ser1041=) n.1830+5682A>T c.7149T>A (p.Ser2383=) c.2901T>A (p.Ser967=) c.6129T>A (p.Ser2043=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776796T>C | CA462449144 | VPS13B | c.7344T>C (p.Ser2448=) n.7414T>C c.*3026T>C (n.*3026T>C) c.7269T>C (p.Ser2423=) n.378-1886T>C c.7341T>C (p.Ser2447=) c.7266T>C (p.Ser2422=) c.6966T>C (p.Ser2322=) c.4230T>C (p.Ser1410=) c.3123T>C (p.Ser1041=) n.1830+5682A>G c.7149T>C (p.Ser2383=) c.2901T>C (p.Ser967=) c.6129T>C (p.Ser2043=) | |
8 | g.99776796T>G | CA462449145 | VPS13B | c.7344T>G (p.Ser2448=) n.7414T>G c.*3026T>G (n.*3026T>G) c.7269T>G (p.Ser2423=) n.378-1886T>G c.7341T>G (p.Ser2447=) c.7266T>G (p.Ser2422=) c.6966T>G (p.Ser2322=) c.4230T>G (p.Ser1410=) c.3123T>G (p.Ser1041=) n.1830+5682A>C c.7149T>G (p.Ser2383=) c.2901T>G (p.Ser967=) c.6129T>G (p.Ser2043=) | |
8 | g.99776797C>A | CA371875582 | VPS13B | c.7345C>A (p.Gln2449Lys) n.7415C>A c.*3027C>A (n.*3027C>A) c.7270C>A (p.Gln2424Lys) n.378-1885C>A c.7342C>A (p.Gln2448Lys) c.7267C>A (p.Gln2423Lys) c.6967C>A (p.Gln2323Lys) c.4231C>A (p.Gln1411Lys) c.3124C>A (p.Gln1042Lys) n.1830+5681G>T c.7150C>A (p.Gln2384Lys) c.2902C>A (p.Gln968Lys) c.6130C>A (p.Gln2044Lys) | |
8 | g.99776797C>G | CA371875581 | VPS13B | c.7345C>G (p.Gln2449Glu) n.7415C>G c.*3027C>G (n.*3027C>G) c.7270C>G (p.Gln2424Glu) n.378-1885C>G c.7342C>G (p.Gln2448Glu) c.7267C>G (p.Gln2423Glu) c.6967C>G (p.Gln2323Glu) c.4231C>G (p.Gln1411Glu) c.3124C>G (p.Gln1042Glu) n.1830+5681G>C c.7150C>G (p.Gln2384Glu) c.2902C>G (p.Gln968Glu) c.6130C>G (p.Gln2044Glu) | |
8 | g.99776797C>T | CA371875580 | VPS13B | c.7345C>T (p.Gln2449Ter) n.7415C>T c.*3027C>T (n.*3027C>T) c.7270C>T (p.Gln2424Ter) n.378-1885C>T c.7342C>T (p.Gln2448Ter) c.7267C>T (p.Gln2423Ter) c.6967C>T (p.Gln2323Ter) c.4231C>T (p.Gln1411Ter) c.3124C>T (p.Gln1042Ter) n.1830+5681G>A c.7150C>T (p.Gln2384Ter) c.2902C>T (p.Gln968Ter) c.6130C>T (p.Gln2044Ter) | dbSNP gnomAD v4 |
8 | g.99776798A>C | CA371875583 | VPS13B | c.7346A>C (p.Gln2449Pro) n.7416A>C c.*3028A>C (n.*3028A>C) c.7271A>C (p.Gln2424Pro) n.378-1884A>C c.7343A>C (p.Gln2448Pro) c.7268A>C (p.Gln2423Pro) c.6968A>C (p.Gln2323Pro) c.4232A>C (p.Gln1411Pro) c.3125A>C (p.Gln1042Pro) n.1830+5680T>G c.7151A>C (p.Gln2384Pro) c.2903A>C (p.Gln968Pro) c.6131A>C (p.Gln2044Pro) | |
8 | g.99776798A>G | CA371875584 | VPS13B | c.7346A>G (p.Gln2449Arg) n.7416A>G c.*3028A>G (n.*3028A>G) c.7271A>G (p.Gln2424Arg) n.378-1884A>G c.7343A>G (p.Gln2448Arg) c.7268A>G (p.Gln2423Arg) c.6968A>G (p.Gln2323Arg) c.4232A>G (p.Gln1411Arg) c.3125A>G (p.Gln1042Arg) n.1830+5680T>C c.7151A>G (p.Gln2384Arg) c.2903A>G (p.Gln968Arg) c.6131A>G (p.Gln2044Arg) | |
8 | g.99776798A>T | CA371875585 | VPS13B | c.7346A>T (p.Gln2449Leu) n.7416A>T c.*3028A>T (n.*3028A>T) c.7271A>T (p.Gln2424Leu) n.378-1884A>T c.7343A>T (p.Gln2448Leu) c.7268A>T (p.Gln2423Leu) c.6968A>T (p.Gln2323Leu) c.4232A>T (p.Gln1411Leu) c.3125A>T (p.Gln1042Leu) n.1830+5680T>A c.7151A>T (p.Gln2384Leu) c.2903A>T (p.Gln968Leu) c.6131A>T (p.Gln2044Leu) | |
8 | g.99776800del | CA2497230828 | VPS13B | c.7348del (p.Ser2450AlafsTer7) n.7418del c.*3030del (n.*3030del) c.7273del (p.Ser2425AlafsTer7) n.378-1882del c.7345del (p.Ser2449AlafsTer7) c.7270del (p.Ser2424AlafsTer7) c.6970del (p.Ser2324AlafsTer7) c.4234del (p.Ser1412AlafsTer7) c.3127del (p.Ser1043AlafsTer7) n.1830+5680del c.7153del (p.Ser2385AlafsTer7) c.2905del (p.Ser969AlafsTer7) c.6133del (p.Ser2045AlafsTer7) | dbSNP |
8 | g.99776799A>C | CA371875586 | VPS13B | c.7347A>C (p.Gln2449His) n.7417A>C c.*3029A>C (n.*3029A>C) c.7272A>C (p.Gln2424His) n.378-1883A>C c.7344A>C (p.Gln2448His) c.7269A>C (p.Gln2423His) c.6969A>C (p.Gln2323His) c.4233A>C (p.Gln1411His) c.3126A>C (p.Gln1042His) n.1830+5679T>G c.7152A>C (p.Gln2384His) c.2904A>C (p.Gln968His) c.6132A>C (p.Gln2044His) | |
8 | g.99776799A>G | CA462449146 | VPS13B | c.7347A>G (p.Gln2449=) n.7417A>G c.*3029A>G (n.*3029A>G) c.7272A>G (p.Gln2424=) n.378-1883A>G c.7344A>G (p.Gln2448=) c.7269A>G (p.Gln2423=) c.6969A>G (p.Gln2323=) c.4233A>G (p.Gln1411=) c.3126A>G (p.Gln1042=) n.1830+5679T>C c.7152A>G (p.Gln2384=) c.2904A>G (p.Gln968=) c.6132A>G (p.Gln2044=) | gnomAD v4 |
8 | g.99776799A>T | CA371875587 | VPS13B | c.7347A>T (p.Gln2449His) n.7417A>T c.*3029A>T (n.*3029A>T) c.7272A>T (p.Gln2424His) n.378-1883A>T c.7344A>T (p.Gln2448His) c.7269A>T (p.Gln2423His) c.6969A>T (p.Gln2323His) c.4233A>T (p.Gln1411His) c.3126A>T (p.Gln1042His) n.1830+5679T>A c.7152A>T (p.Gln2384His) c.2904A>T (p.Gln968His) c.6132A>T (p.Gln2044His) | |
8 | g.99776800A>C | CA371875588 | VPS13B | c.7348A>C (p.Ser2450Arg) n.7418A>C c.*3030A>C (n.*3030A>C) c.7273A>C (p.Ser2425Arg) n.378-1882A>C c.7345A>C (p.Ser2449Arg) c.7270A>C (p.Ser2424Arg) c.6970A>C (p.Ser2324Arg) c.4234A>C (p.Ser1412Arg) c.3127A>C (p.Ser1043Arg) n.1830+5678T>G c.7153A>C (p.Ser2385Arg) c.2905A>C (p.Ser969Arg) c.6133A>C (p.Ser2045Arg) | ClinVar |
8 | g.99776800A>G | CA371875589 | VPS13B | c.7348A>G (p.Ser2450Gly) n.7418A>G c.*3030A>G (n.*3030A>G) c.7273A>G (p.Ser2425Gly) n.378-1882A>G c.7345A>G (p.Ser2449Gly) c.7270A>G (p.Ser2424Gly) c.6970A>G (p.Ser2324Gly) c.4234A>G (p.Ser1412Gly) c.3127A>G (p.Ser1043Gly) n.1830+5678T>C c.7153A>G (p.Ser2385Gly) c.2905A>G (p.Ser969Gly) c.6133A>G (p.Ser2045Gly) | |
8 | g.99776800A>T | CA371875590 | VPS13B | c.7348A>T (p.Ser2450Cys) n.7418A>T c.*3030A>T (n.*3030A>T) c.7273A>T (p.Ser2425Cys) n.378-1882A>T c.7345A>T (p.Ser2449Cys) c.7270A>T (p.Ser2424Cys) c.6970A>T (p.Ser2324Cys) c.4234A>T (p.Ser1412Cys) c.3127A>T (p.Ser1043Cys) n.1830+5678T>A c.7153A>T (p.Ser2385Cys) c.2905A>T (p.Ser969Cys) c.6133A>T (p.Ser2045Cys) | |
8 | g.99776801G>A | CA371875591 | VPS13B | c.7349G>A (p.Ser2450Asn) n.7419G>A c.*3031G>A (n.*3031G>A) c.7274G>A (p.Ser2425Asn) n.378-1881G>A c.7346G>A (p.Ser2449Asn) c.7271G>A (p.Ser2424Asn) c.6971G>A (p.Ser2324Asn) c.4235G>A (p.Ser1412Asn) c.3128G>A (p.Ser1043Asn) n.1830+5677C>T c.7154G>A (p.Ser2385Asn) c.2906G>A (p.Ser969Asn) c.6134G>A (p.Ser2045Asn) | |
8 | g.99776801G>C | CA371875592 | VPS13B | c.7349G>C (p.Ser2450Thr) n.7419G>C c.*3031G>C (n.*3031G>C) c.7274G>C (p.Ser2425Thr) n.378-1881G>C c.7346G>C (p.Ser2449Thr) c.7271G>C (p.Ser2424Thr) c.6971G>C (p.Ser2324Thr) c.4235G>C (p.Ser1412Thr) c.3128G>C (p.Ser1043Thr) n.1830+5677C>G c.7154G>C (p.Ser2385Thr) c.2906G>C (p.Ser969Thr) c.6134G>C (p.Ser2045Thr) | |
8 | g.99776801G>T | CA371875593 | VPS13B | c.7349G>T (p.Ser2450Ile) n.7419G>T c.*3031G>T (n.*3031G>T) c.7274G>T (p.Ser2425Ile) n.378-1881G>T c.7346G>T (p.Ser2449Ile) c.7271G>T (p.Ser2424Ile) c.6971G>T (p.Ser2324Ile) c.4235G>T (p.Ser1412Ile) c.3128G>T (p.Ser1043Ile) n.1830+5677C>A c.7154G>T (p.Ser2385Ile) c.2906G>T (p.Ser969Ile) c.6134G>T (p.Ser2045Ile) | |
8 | g.99776802C>A | CA183041705 | VPS13B | c.7350C>A (p.Ser2450Arg) n.7420C>A c.*3032C>A (n.*3032C>A) c.7275C>A (p.Ser2425Arg) n.378-1880C>A c.7347C>A (p.Ser2449Arg) c.7272C>A (p.Ser2424Arg) c.6972C>A (p.Ser2324Arg) c.4236C>A (p.Ser1412Arg) c.3129C>A (p.Ser1043Arg) n.1830+5676G>T c.7155C>A (p.Ser2385Arg) c.2907C>A (p.Ser969Arg) c.6135C>A (p.Ser2045Arg) | dbSNP |
8 | g.99776802C>G | CA371875594 | VPS13B | c.7350C>G (p.Ser2450Arg) n.7420C>G c.*3032C>G (n.*3032C>G) c.7275C>G (p.Ser2425Arg) n.378-1880C>G c.7347C>G (p.Ser2449Arg) c.7272C>G (p.Ser2424Arg) c.6972C>G (p.Ser2324Arg) c.4236C>G (p.Ser1412Arg) c.3129C>G (p.Ser1043Arg) n.1830+5676G>C c.7155C>G (p.Ser2385Arg) c.2907C>G (p.Ser969Arg) c.6135C>G (p.Ser2045Arg) | |
8 | g.99776802C>T | CA4824187 | VPS13B | c.7350C>T (p.Ser2450=) n.7420C>T c.*3032C>T (n.*3032C>T) c.7275C>T (p.Ser2425=) n.378-1880C>T c.7347C>T (p.Ser2449=) c.7272C>T (p.Ser2424=) c.6972C>T (p.Ser2324=) c.4236C>T (p.Ser1412=) c.3129C>T (p.Ser1043=) n.1830+5676G>A c.7155C>T (p.Ser2385=) c.2907C>T (p.Ser969=) c.6135C>T (p.Ser2045=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776811_99776821dup | CA2497230829 | VPS13B | c.7359_7369dup (p.Thr2457IlefsTer4) n.7429_7439dup c.*3041_*3051dup (n.*3041_*3051dup) c.7284_7294dup (p.Thr2432IlefsTer4) n.378-1871_378-1861dup c.7356_7366dup (p.Thr2456IlefsTer4) c.7281_7291dup (p.Thr2431IlefsTer4) c.6981_6991dup (p.Thr2331IlefsTer4) c.4245_4255dup (p.Thr1419IlefsTer4) c.3138_3148dup (p.Thr1050IlefsTer4) n.1830+5666_1830+5676dup c.7164_7174dup (p.Thr2392IlefsTer4) c.2916_2926dup (p.Thr976IlefsTer4) c.6144_6154dup (p.Thr2052IlefsTer4) | dbSNP |
8 | g.99776803A>C | CA371875595 | VPS13B | c.7351A>C (p.Thr2451Pro) n.7421A>C c.*3033A>C (n.*3033A>C) c.7276A>C (p.Thr2426Pro) n.378-1879A>C c.7348A>C (p.Thr2450Pro) c.7273A>C (p.Thr2425Pro) c.6973A>C (p.Thr2325Pro) c.4237A>C (p.Thr1413Pro) c.3130A>C (p.Thr1044Pro) n.1830+5675T>G c.7156A>C (p.Thr2386Pro) c.2908A>C (p.Thr970Pro) c.6136A>C (p.Thr2046Pro) | |
8 | g.99776803A>G | CA371875596 | VPS13B | c.7351A>G (p.Thr2451Ala) n.7421A>G c.*3033A>G (n.*3033A>G) c.7276A>G (p.Thr2426Ala) n.378-1879A>G c.7348A>G (p.Thr2450Ala) c.7273A>G (p.Thr2425Ala) c.6973A>G (p.Thr2325Ala) c.4237A>G (p.Thr1413Ala) c.3130A>G (p.Thr1044Ala) n.1830+5675T>C c.7156A>G (p.Thr2386Ala) c.2908A>G (p.Thr970Ala) c.6136A>G (p.Thr2046Ala) | ClinVar dbSNP gnomAD v4 |
8 | g.99776803A>T | CA371875597 | VPS13B | c.7351A>T (p.Thr2451Ser) n.7421A>T c.*3033A>T (n.*3033A>T) c.7276A>T (p.Thr2426Ser) n.378-1879A>T c.7348A>T (p.Thr2450Ser) c.7273A>T (p.Thr2425Ser) c.6973A>T (p.Thr2325Ser) c.4237A>T (p.Thr1413Ser) c.3130A>T (p.Thr1044Ser) n.1830+5675T>A c.7156A>T (p.Thr2386Ser) c.2908A>T (p.Thr970Ser) c.6136A>T (p.Thr2046Ser) | |
8 | g.99776804C>A | CA371875598 | VPS13B | c.7352C>A (p.Thr2451Asn) n.7422C>A c.*3034C>A (n.*3034C>A) c.7277C>A (p.Thr2426Asn) n.378-1878C>A c.7349C>A (p.Thr2450Asn) c.7274C>A (p.Thr2425Asn) c.6974C>A (p.Thr2325Asn) c.4238C>A (p.Thr1413Asn) c.3131C>A (p.Thr1044Asn) n.1830+5674G>T c.7157C>A (p.Thr2386Asn) c.2909C>A (p.Thr970Asn) c.6137C>A (p.Thr2046Asn) | |
8 | g.99776804C>G | CA371875599 | VPS13B | c.7352C>G (p.Thr2451Ser) n.7422C>G c.*3034C>G (n.*3034C>G) c.7277C>G (p.Thr2426Ser) n.378-1878C>G c.7349C>G (p.Thr2450Ser) c.7274C>G (p.Thr2425Ser) c.6974C>G (p.Thr2325Ser) c.4238C>G (p.Thr1413Ser) c.3131C>G (p.Thr1044Ser) n.1830+5674G>C c.7157C>G (p.Thr2386Ser) c.2909C>G (p.Thr970Ser) c.6137C>G (p.Thr2046Ser) | ClinVar dbSNP |
8 | g.99776804C>T | CA371875600 | VPS13B | c.7352C>T (p.Thr2451Ile) n.7422C>T c.*3034C>T (n.*3034C>T) c.7277C>T (p.Thr2426Ile) n.378-1878C>T c.7349C>T (p.Thr2450Ile) c.7274C>T (p.Thr2425Ile) c.6974C>T (p.Thr2325Ile) c.4238C>T (p.Thr1413Ile) c.3131C>T (p.Thr1044Ile) n.1830+5674G>A c.7157C>T (p.Thr2386Ile) c.2909C>T (p.Thr970Ile) c.6137C>T (p.Thr2046Ile) | |
8 | g.99776805T>A | CA462449147 | VPS13B | c.7353T>A (p.Thr2451=) n.7423T>A c.*3035T>A (n.*3035T>A) c.7278T>A (p.Thr2426=) n.378-1877T>A c.7350T>A (p.Thr2450=) c.7275T>A (p.Thr2425=) c.6975T>A (p.Thr2325=) c.4239T>A (p.Thr1413=) c.3132T>A (p.Thr1044=) n.1830+5673A>T c.7158T>A (p.Thr2386=) c.2910T>A (p.Thr970=) c.6138T>A (p.Thr2046=) | |
8 | g.99776805T>C | CA462449149 | VPS13B | c.7353T>C (p.Thr2451=) n.7423T>C c.*3035T>C (n.*3035T>C) c.7278T>C (p.Thr2426=) n.378-1877T>C c.7350T>C (p.Thr2450=) c.7275T>C (p.Thr2425=) c.6975T>C (p.Thr2325=) c.4239T>C (p.Thr1413=) c.3132T>C (p.Thr1044=) n.1830+5673A>G c.7158T>C (p.Thr2386=) c.2910T>C (p.Thr970=) c.6138T>C (p.Thr2046=) | |
8 | g.99776805T>G | CA462449148 | VPS13B | c.7353T>G (p.Thr2451=) n.7423T>G c.*3035T>G (n.*3035T>G) c.7278T>G (p.Thr2426=) n.378-1877T>G c.7350T>G (p.Thr2450=) c.7275T>G (p.Thr2425=) c.6975T>G (p.Thr2325=) c.4239T>G (p.Thr1413=) c.3132T>G (p.Thr1044=) n.1830+5673A>C c.7158T>G (p.Thr2386=) c.2910T>G (p.Thr970=) c.6138T>G (p.Thr2046=) | |
8 | g.99776806T>A | CA371875603 | VPS13B | c.7354T>A (p.Cys2452Ser) n.7424T>A c.*3036T>A (n.*3036T>A) c.7279T>A (p.Cys2427Ser) n.378-1876T>A c.7351T>A (p.Cys2451Ser) c.7276T>A (p.Cys2426Ser) c.6976T>A (p.Cys2326Ser) c.4240T>A (p.Cys1414Ser) c.3133T>A (p.Cys1045Ser) n.1830+5672A>T c.7159T>A (p.Cys2387Ser) c.2911T>A (p.Cys971Ser) c.6139T>A (p.Cys2047Ser) | |
8 | g.99776806T>C | CA371875601 | VPS13B | c.7354T>C (p.Cys2452Arg) n.7424T>C c.*3036T>C (n.*3036T>C) c.7279T>C (p.Cys2427Arg) n.378-1876T>C c.7351T>C (p.Cys2451Arg) c.7276T>C (p.Cys2426Arg) c.6976T>C (p.Cys2326Arg) c.4240T>C (p.Cys1414Arg) c.3133T>C (p.Cys1045Arg) n.1830+5672A>G c.7159T>C (p.Cys2387Arg) c.2911T>C (p.Cys971Arg) c.6139T>C (p.Cys2047Arg) | |
8 | g.99776806T>G | CA371875602 | VPS13B | c.7354T>G (p.Cys2452Gly) n.7424T>G c.*3036T>G (n.*3036T>G) c.7279T>G (p.Cys2427Gly) n.378-1876T>G c.7351T>G (p.Cys2451Gly) c.7276T>G (p.Cys2426Gly) c.6976T>G (p.Cys2326Gly) c.4240T>G (p.Cys1414Gly) c.3133T>G (p.Cys1045Gly) n.1830+5672A>C c.7159T>G (p.Cys2387Gly) c.2911T>G (p.Cys971Gly) c.6139T>G (p.Cys2047Gly) | |
8 | g.99776807G>A | CA371875604 | VPS13B | c.7355G>A (p.Cys2452Tyr) n.7425G>A c.*3037G>A (n.*3037G>A) c.7280G>A (p.Cys2427Tyr) n.378-1875G>A c.7352G>A (p.Cys2451Tyr) c.7277G>A (p.Cys2426Tyr) c.6977G>A (p.Cys2326Tyr) c.4241G>A (p.Cys1414Tyr) c.3134G>A (p.Cys1045Tyr) n.1830+5671C>T c.7160G>A (p.Cys2387Tyr) c.2912G>A (p.Cys971Tyr) c.6140G>A (p.Cys2047Tyr) | |
8 | g.99776807G>C | CA371875605 | VPS13B | c.7355G>C (p.Cys2452Ser) n.7425G>C c.*3037G>C (n.*3037G>C) c.7280G>C (p.Cys2427Ser) n.378-1875G>C c.7352G>C (p.Cys2451Ser) c.7277G>C (p.Cys2426Ser) c.6977G>C (p.Cys2326Ser) c.4241G>C (p.Cys1414Ser) c.3134G>C (p.Cys1045Ser) n.1830+5671C>G c.7160G>C (p.Cys2387Ser) c.2912G>C (p.Cys971Ser) c.6140G>C (p.Cys2047Ser) | |
8 | g.99776807G>T | CA371875606 | VPS13B | c.7355G>T (p.Cys2452Phe) n.7425G>T c.*3037G>T (n.*3037G>T) c.7280G>T (p.Cys2427Phe) n.378-1875G>T c.7352G>T (p.Cys2451Phe) c.7277G>T (p.Cys2426Phe) c.6977G>T (p.Cys2326Phe) c.4241G>T (p.Cys1414Phe) c.3134G>T (p.Cys1045Phe) n.1830+5671C>A c.7160G>T (p.Cys2387Phe) c.2912G>T (p.Cys971Phe) c.6140G>T (p.Cys2047Phe) | |
8 | g.99776808T>A | CA371875607 | VPS13B | c.7356T>A (p.Cys2452Ter) n.7426T>A c.*3038T>A (n.*3038T>A) c.7281T>A (p.Cys2427Ter) n.378-1874T>A c.7353T>A (p.Cys2451Ter) c.7278T>A (p.Cys2426Ter) c.6978T>A (p.Cys2326Ter) c.4242T>A (p.Cys1414Ter) c.3135T>A (p.Cys1045Ter) n.1830+5670A>T c.7161T>A (p.Cys2387Ter) c.2913T>A (p.Cys971Ter) c.6141T>A (p.Cys2047Ter) | |
8 | g.99776808T>C | CA462449150 | VPS13B | c.7356T>C (p.Cys2452=) n.7426T>C c.*3038T>C (n.*3038T>C) c.7281T>C (p.Cys2427=) n.378-1874T>C c.7353T>C (p.Cys2451=) c.7278T>C (p.Cys2426=) c.6978T>C (p.Cys2326=) c.4242T>C (p.Cys1414=) c.3135T>C (p.Cys1045=) n.1830+5670A>G c.7161T>C (p.Cys2387=) c.2913T>C (p.Cys971=) c.6141T>C (p.Cys2047=) | |
8 | g.99776808T>G | CA371875608 | VPS13B | c.7356T>G (p.Cys2452Trp) n.7426T>G c.*3038T>G (n.*3038T>G) c.7281T>G (p.Cys2427Trp) n.378-1874T>G c.7353T>G (p.Cys2451Trp) c.7278T>G (p.Cys2426Trp) c.6978T>G (p.Cys2326Trp) c.4242T>G (p.Cys1414Trp) c.3135T>G (p.Cys1045Trp) n.1830+5670A>C c.7161T>G (p.Cys2387Trp) c.2913T>G (p.Cys971Trp) c.6141T>G (p.Cys2047Trp) | |
8 | g.99776809G>A | CA371875609 | VPS13B | c.7357G>A (p.Asp2453Asn) n.7427G>A c.*3039G>A (n.*3039G>A) c.7282G>A (p.Asp2428Asn) n.378-1873G>A c.7354G>A (p.Asp2452Asn) c.7279G>A (p.Asp2427Asn) c.6979G>A (p.Asp2327Asn) c.4243G>A (p.Asp1415Asn) c.3136G>A (p.Asp1046Asn) n.1830+5669C>T c.7162G>A (p.Asp2388Asn) c.2914G>A (p.Asp972Asn) c.6142G>A (p.Asp2048Asn) | |
8 | g.99776809G>C | CA371875611 | VPS13B | c.7357G>C (p.Asp2453His) n.7427G>C c.*3039G>C (n.*3039G>C) c.7282G>C (p.Asp2428His) n.378-1873G>C c.7354G>C (p.Asp2452His) c.7279G>C (p.Asp2427His) c.6979G>C (p.Asp2327His) c.4243G>C (p.Asp1415His) c.3136G>C (p.Asp1046His) n.1830+5669C>G c.7162G>C (p.Asp2388His) c.2914G>C (p.Asp972His) c.6142G>C (p.Asp2048His) | |
8 | g.99776809G>T | CA371875610 | VPS13B | c.7357G>T (p.Asp2453Tyr) n.7427G>T c.*3039G>T (n.*3039G>T) c.7282G>T (p.Asp2428Tyr) n.378-1873G>T c.7354G>T (p.Asp2452Tyr) c.7279G>T (p.Asp2427Tyr) c.6979G>T (p.Asp2327Tyr) c.4243G>T (p.Asp1415Tyr) c.3136G>T (p.Asp1046Tyr) n.1830+5669C>A c.7162G>T (p.Asp2388Tyr) c.2914G>T (p.Asp972Tyr) c.6142G>T (p.Asp2048Tyr) | |
8 | g.99776810del | CA2688068075 | VPS13B | c.7358del (p.Asp2453ValfsTer4) n.7428del c.*3040del (n.*3040del) c.7283del (p.Asp2428ValfsTer4) n.378-1872del c.7355del (p.Asp2452ValfsTer4) c.7280del (p.Asp2427ValfsTer4) c.6980del (p.Asp2327ValfsTer4) c.4244del (p.Asp1415ValfsTer4) c.3137del (p.Asp1046ValfsTer4) n.1830+5668del c.7163del (p.Asp2388ValfsTer4) c.2915del (p.Asp972ValfsTer4) c.6143del (p.Asp2048ValfsTer4) | gnomAD v4 |
8 | g.99776810A>C | CA371875612 | VPS13B | c.7358A>C (p.Asp2453Ala) n.7428A>C c.*3040A>C (n.*3040A>C) c.7283A>C (p.Asp2428Ala) n.378-1872A>C c.7355A>C (p.Asp2452Ala) c.7280A>C (p.Asp2427Ala) c.6980A>C (p.Asp2327Ala) c.4244A>C (p.Asp1415Ala) c.3137A>C (p.Asp1046Ala) n.1830+5668T>G c.7163A>C (p.Asp2388Ala) c.2915A>C (p.Asp972Ala) c.6143A>C (p.Asp2048Ala) | |
8 | g.99776810A>G | CA371875613 | VPS13B | c.7358A>G (p.Asp2453Gly) n.7428A>G c.*3040A>G (n.*3040A>G) c.7283A>G (p.Asp2428Gly) n.378-1872A>G c.7355A>G (p.Asp2452Gly) c.7280A>G (p.Asp2427Gly) c.6980A>G (p.Asp2327Gly) c.4244A>G (p.Asp1415Gly) c.3137A>G (p.Asp1046Gly) n.1830+5668T>C c.7163A>G (p.Asp2388Gly) c.2915A>G (p.Asp972Gly) c.6143A>G (p.Asp2048Gly) | gnomAD v4 |
8 | g.99776810A>T | CA371875614 | VPS13B | c.7358A>T (p.Asp2453Val) n.7428A>T c.*3040A>T (n.*3040A>T) c.7283A>T (p.Asp2428Val) n.378-1872A>T c.7355A>T (p.Asp2452Val) c.7280A>T (p.Asp2427Val) c.6980A>T (p.Asp2327Val) c.4244A>T (p.Asp1415Val) c.3137A>T (p.Asp1046Val) n.1830+5668T>A c.7163A>T (p.Asp2388Val) c.2915A>T (p.Asp972Val) c.6143A>T (p.Asp2048Val) | |
8 | g.99776811T>A | CA371875615 | VPS13B | c.7359T>A (p.Asp2453Glu) n.7429T>A c.*3041T>A (n.*3041T>A) c.7284T>A (p.Asp2428Glu) n.378-1871T>A c.7356T>A (p.Asp2452Glu) c.7281T>A (p.Asp2427Glu) c.6981T>A (p.Asp2327Glu) c.4245T>A (p.Asp1415Glu) c.3138T>A (p.Asp1046Glu) n.1830+5667A>T c.7164T>A (p.Asp2388Glu) c.2916T>A (p.Asp972Glu) c.6144T>A (p.Asp2048Glu) | |
8 | g.99776811T>C | CA462449151 | VPS13B | c.7359T>C (p.Asp2453=) n.7429T>C c.*3041T>C (n.*3041T>C) c.7284T>C (p.Asp2428=) n.378-1871T>C c.7356T>C (p.Asp2452=) c.7281T>C (p.Asp2427=) c.6981T>C (p.Asp2327=) c.4245T>C (p.Asp1415=) c.3138T>C (p.Asp1046=) n.1830+5667A>G c.7164T>C (p.Asp2388=) c.2916T>C (p.Asp972=) c.6144T>C (p.Asp2048=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776811T>G | CA371875616 | VPS13B | c.7359T>G (p.Asp2453Glu) n.7429T>G c.*3041T>G (n.*3041T>G) c.7284T>G (p.Asp2428Glu) n.378-1871T>G c.7356T>G (p.Asp2452Glu) c.7281T>G (p.Asp2427Glu) c.6981T>G (p.Asp2327Glu) c.4245T>G (p.Asp1415Glu) c.3138T>G (p.Asp1046Glu) n.1830+5667A>C c.7164T>G (p.Asp2388Glu) c.2916T>G (p.Asp972Glu) c.6144T>G (p.Asp2048Glu) | |
8 | g.99776812C>A | CA371875617 | VPS13B | c.7360C>A (p.Pro2454Thr) n.7430C>A c.*3042C>A (n.*3042C>A) c.7285C>A (p.Pro2429Thr) n.378-1870C>A c.7357C>A (p.Pro2453Thr) c.7282C>A (p.Pro2428Thr) c.6982C>A (p.Pro2328Thr) c.4246C>A (p.Pro1416Thr) c.3139C>A (p.Pro1047Thr) n.1830+5666G>T c.7165C>A (p.Pro2389Thr) c.2917C>A (p.Pro973Thr) c.6145C>A (p.Pro2049Thr) | |
8 | g.99776812C>G | CA371875618 | VPS13B | c.7360C>G (p.Pro2454Ala) n.7430C>G c.*3042C>G (n.*3042C>G) c.7285C>G (p.Pro2429Ala) n.378-1870C>G c.7357C>G (p.Pro2453Ala) c.7282C>G (p.Pro2428Ala) c.6982C>G (p.Pro2328Ala) c.4246C>G (p.Pro1416Ala) c.3139C>G (p.Pro1047Ala) n.1830+5666G>C c.7165C>G (p.Pro2389Ala) c.2917C>G (p.Pro973Ala) c.6145C>G (p.Pro2049Ala) | |
8 | g.99776812C>T | CA371875619 | VPS13B | c.7360C>T (p.Pro2454Ser) n.7430C>T c.*3042C>T (n.*3042C>T) c.7285C>T (p.Pro2429Ser) n.378-1870C>T c.7357C>T (p.Pro2453Ser) c.7282C>T (p.Pro2428Ser) c.6982C>T (p.Pro2328Ser) c.4246C>T (p.Pro1416Ser) c.3139C>T (p.Pro1047Ser) n.1830+5666G>A c.7165C>T (p.Pro2389Ser) c.2917C>T (p.Pro973Ser) c.6145C>T (p.Pro2049Ser) | |
8 | g.99776813C>A | CA371875620 | VPS13B | c.7361C>A (p.Pro2454Gln) n.7431C>A c.*3043C>A (n.*3043C>A) c.7286C>A (p.Pro2429Gln) n.378-1869C>A c.7358C>A (p.Pro2453Gln) c.7283C>A (p.Pro2428Gln) c.6983C>A (p.Pro2328Gln) c.4247C>A (p.Pro1416Gln) c.3140C>A (p.Pro1047Gln) n.1830+5665G>T c.7166C>A (p.Pro2389Gln) c.2918C>A (p.Pro973Gln) c.6146C>A (p.Pro2049Gln) | |
8 | g.99776813C>G | CA371875621 | VPS13B | c.7361C>G (p.Pro2454Arg) n.7431C>G c.*3043C>G (n.*3043C>G) c.7286C>G (p.Pro2429Arg) n.378-1869C>G c.7358C>G (p.Pro2453Arg) c.7283C>G (p.Pro2428Arg) c.6983C>G (p.Pro2328Arg) c.4247C>G (p.Pro1416Arg) c.3140C>G (p.Pro1047Arg) n.1830+5665G>C c.7166C>G (p.Pro2389Arg) c.2918C>G (p.Pro973Arg) c.6146C>G (p.Pro2049Arg) | |
8 | g.99776813C>T | CA183041708 | VPS13B | c.7361C>T (p.Pro2454Leu) n.7431C>T c.*3043C>T (n.*3043C>T) c.7286C>T (p.Pro2429Leu) n.378-1869C>T c.7358C>T (p.Pro2453Leu) c.7283C>T (p.Pro2428Leu) c.6983C>T (p.Pro2328Leu) c.4247C>T (p.Pro1416Leu) c.3140C>T (p.Pro1047Leu) n.1830+5665G>A c.7166C>T (p.Pro2389Leu) c.2918C>T (p.Pro973Leu) c.6146C>T (p.Pro2049Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776814A>C | CA462449153 | VPS13B | c.7362A>C (p.Pro2454=) n.7432A>C c.*3044A>C (n.*3044A>C) c.7287A>C (p.Pro2429=) n.378-1868A>C c.7359A>C (p.Pro2453=) c.7284A>C (p.Pro2428=) c.6984A>C (p.Pro2328=) c.4248A>C (p.Pro1416=) c.3141A>C (p.Pro1047=) n.1830+5664T>G c.7167A>C (p.Pro2389=) c.2919A>C (p.Pro973=) c.6147A>C (p.Pro2049=) | |
8 | g.99776814A>G | CA462449154 | VPS13B | c.7362A>G (p.Pro2454=) n.7432A>G c.*3044A>G (n.*3044A>G) c.7287A>G (p.Pro2429=) n.378-1868A>G c.7359A>G (p.Pro2453=) c.7284A>G (p.Pro2428=) c.6984A>G (p.Pro2328=) c.4248A>G (p.Pro1416=) c.3141A>G (p.Pro1047=) n.1830+5664T>C c.7167A>G (p.Pro2389=) c.2919A>G (p.Pro973=) c.6147A>G (p.Pro2049=) | gnomAD v4 |
8 | g.99776814A>T | CA462449152 | VPS13B | c.7362A>T (p.Pro2454=) n.7432A>T c.*3044A>T (n.*3044A>T) c.7287A>T (p.Pro2429=) n.378-1868A>T c.7359A>T (p.Pro2453=) c.7284A>T (p.Pro2428=) c.6984A>T (p.Pro2328=) c.4248A>T (p.Pro1416=) c.3141A>T (p.Pro1047=) n.1830+5664T>A c.7167A>T (p.Pro2389=) c.2919A>T (p.Pro973=) c.6147A>T (p.Pro2049=) | |
8 | g.99776815C>A | CA371875624 | VPS13B | c.7363C>A (p.Leu2455Ile) n.7433C>A c.*3045C>A (n.*3045C>A) c.7288C>A (p.Leu2430Ile) n.378-1867C>A c.7360C>A (p.Leu2454Ile) c.7285C>A (p.Leu2429Ile) c.6985C>A (p.Leu2329Ile) c.4249C>A (p.Leu1417Ile) c.3142C>A (p.Leu1048Ile) n.1830+5663G>T c.7168C>A (p.Leu2390Ile) c.2920C>A (p.Leu974Ile) c.6148C>A (p.Leu2050Ile) | |
8 | g.99776815C>G | CA371875623 | VPS13B | c.7363C>G (p.Leu2455Val) n.7433C>G c.*3045C>G (n.*3045C>G) c.7288C>G (p.Leu2430Val) n.378-1867C>G c.7360C>G (p.Leu2454Val) c.7285C>G (p.Leu2429Val) c.6985C>G (p.Leu2329Val) c.4249C>G (p.Leu1417Val) c.3142C>G (p.Leu1048Val) n.1830+5663G>C c.7168C>G (p.Leu2390Val) c.2920C>G (p.Leu974Val) c.6148C>G (p.Leu2050Val) | |
8 | g.99776815C>T | CA371875622 | VPS13B | c.7363C>T (p.Leu2455Phe) n.7433C>T c.*3045C>T (n.*3045C>T) c.7288C>T (p.Leu2430Phe) n.378-1867C>T c.7360C>T (p.Leu2454Phe) c.7285C>T (p.Leu2429Phe) c.6985C>T (p.Leu2329Phe) c.4249C>T (p.Leu1417Phe) c.3142C>T (p.Leu1048Phe) n.1830+5663G>A c.7168C>T (p.Leu2390Phe) c.2920C>T (p.Leu974Phe) c.6148C>T (p.Leu2050Phe) | |
8 | g.99776816T>A | CA371875625 | VPS13B | c.7364T>A (p.Leu2455His) n.7434T>A c.*3046T>A (n.*3046T>A) c.7289T>A (p.Leu2430His) n.378-1866T>A c.7361T>A (p.Leu2454His) c.7286T>A (p.Leu2429His) c.6986T>A (p.Leu2329His) c.4250T>A (p.Leu1417His) c.3143T>A (p.Leu1048His) n.1830+5662A>T c.7169T>A (p.Leu2390His) c.2921T>A (p.Leu974His) c.6149T>A (p.Leu2050His) | |
8 | g.99776816T>C | CA371875627 | VPS13B | c.7364T>C (p.Leu2455Pro) n.7434T>C c.*3046T>C (n.*3046T>C) c.7289T>C (p.Leu2430Pro) n.378-1866T>C c.7361T>C (p.Leu2454Pro) c.7286T>C (p.Leu2429Pro) c.6986T>C (p.Leu2329Pro) c.4250T>C (p.Leu1417Pro) c.3143T>C (p.Leu1048Pro) n.1830+5662A>G c.7169T>C (p.Leu2390Pro) c.2921T>C (p.Leu974Pro) c.6149T>C (p.Leu2050Pro) | gnomAD v4 |
8 | g.99776816T>G | CA371875626 | VPS13B | c.7364T>G (p.Leu2455Arg) n.7434T>G c.*3046T>G (n.*3046T>G) c.7289T>G (p.Leu2430Arg) n.378-1866T>G c.7361T>G (p.Leu2454Arg) c.7286T>G (p.Leu2429Arg) c.6986T>G (p.Leu2329Arg) c.4250T>G (p.Leu1417Arg) c.3143T>G (p.Leu1048Arg) n.1830+5662A>C c.7169T>G (p.Leu2390Arg) c.2921T>G (p.Leu974Arg) c.6149T>G (p.Leu2050Arg) | |
8 | g.99776817T>A | CA462449155 | VPS13B | c.7365T>A (p.Leu2455=) n.7435T>A c.*3047T>A (n.*3047T>A) c.7290T>A (p.Leu2430=) n.378-1865T>A c.7362T>A (p.Leu2454=) c.7287T>A (p.Leu2429=) c.6987T>A (p.Leu2329=) c.4251T>A (p.Leu1417=) c.3144T>A (p.Leu1048=) n.1830+5661A>T c.7170T>A (p.Leu2390=) c.2922T>A (p.Leu974=) c.6150T>A (p.Leu2050=) | |
8 | g.99776817T>C | CA462449156 | VPS13B | c.7365T>C (p.Leu2455=) n.7435T>C c.*3047T>C (n.*3047T>C) c.7290T>C (p.Leu2430=) n.378-1865T>C c.7362T>C (p.Leu2454=) c.7287T>C (p.Leu2429=) c.6987T>C (p.Leu2329=) c.4251T>C (p.Leu1417=) c.3144T>C (p.Leu1048=) n.1830+5661A>G c.7170T>C (p.Leu2390=) c.2922T>C (p.Leu974=) c.6150T>C (p.Leu2050=) | |
8 | g.99776817T>G | CA462449157 | VPS13B | c.7365T>G (p.Leu2455=) n.7435T>G c.*3047T>G (n.*3047T>G) c.7290T>G (p.Leu2430=) n.378-1865T>G c.7362T>G (p.Leu2454=) c.7287T>G (p.Leu2429=) c.6987T>G (p.Leu2329=) c.4251T>G (p.Leu1417=) c.3144T>G (p.Leu1048=) n.1830+5661A>C c.7170T>G (p.Leu2390=) c.2922T>G (p.Leu974=) c.6150T>G (p.Leu2050=) | |
8 | g.99776818G>A | CA4824188 | VPS13B | c.7366G>A (p.Val2456Met) n.7436G>A c.*3048G>A (n.*3048G>A) c.7291G>A (p.Val2431Met) n.378-1864G>A c.7363G>A (p.Val2455Met) c.7288G>A (p.Val2430Met) c.6988G>A (p.Val2330Met) c.4252G>A (p.Val1418Met) c.3145G>A (p.Val1049Met) n.1830+5660C>T c.7171G>A (p.Val2391Met) c.2923G>A (p.Val975Met) c.6151G>A (p.Val2051Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776818G>C | CA371875629 | VPS13B | c.7366G>C (p.Val2456Leu) n.7436G>C c.*3048G>C (n.*3048G>C) c.7291G>C (p.Val2431Leu) n.378-1864G>C c.7363G>C (p.Val2455Leu) c.7288G>C (p.Val2430Leu) c.6988G>C (p.Val2330Leu) c.4252G>C (p.Val1418Leu) c.3145G>C (p.Val1049Leu) n.1830+5660C>G c.7171G>C (p.Val2391Leu) c.2923G>C (p.Val975Leu) c.6151G>C (p.Val2051Leu) | |
8 | g.99776818G>T | CA371875628 | VPS13B | c.7366G>T (p.Val2456Leu) n.7436G>T c.*3048G>T (n.*3048G>T) c.7291G>T (p.Val2431Leu) n.378-1864G>T c.7363G>T (p.Val2455Leu) c.7288G>T (p.Val2430Leu) c.6988G>T (p.Val2330Leu) c.4252G>T (p.Val1418Leu) c.3145G>T (p.Val1049Leu) n.1830+5660C>A c.7171G>T (p.Val2391Leu) c.2923G>T (p.Val975Leu) c.6151G>T (p.Val2051Leu) | |
8 | g.99776819T>A | CA371875630 | VPS13B | c.7367T>A (p.Val2456Glu) n.7437T>A c.*3049T>A (n.*3049T>A) c.7292T>A (p.Val2431Glu) n.378-1863T>A c.7364T>A (p.Val2455Glu) c.7289T>A (p.Val2430Glu) c.6989T>A (p.Val2330Glu) c.4253T>A (p.Val1418Glu) c.3146T>A (p.Val1049Glu) n.1830+5659A>T c.7172T>A (p.Val2391Glu) c.2924T>A (p.Val975Glu) c.6152T>A (p.Val2051Glu) | |
8 | g.99776819T>C | CA183041712 | VPS13B | c.7367T>C (p.Val2456Ala) n.7437T>C c.*3049T>C (n.*3049T>C) c.7292T>C (p.Val2431Ala) n.378-1863T>C c.7364T>C (p.Val2455Ala) c.7289T>C (p.Val2430Ala) c.6989T>C (p.Val2330Ala) c.4253T>C (p.Val1418Ala) c.3146T>C (p.Val1049Ala) n.1830+5659A>G c.7172T>C (p.Val2391Ala) c.2924T>C (p.Val975Ala) c.6152T>C (p.Val2051Ala) | dbSNP |
8 | g.99776819T>G | CA371875631 | VPS13B | c.7367T>G (p.Val2456Gly) n.7437T>G c.*3049T>G (n.*3049T>G) c.7292T>G (p.Val2431Gly) n.378-1863T>G c.7364T>G (p.Val2455Gly) c.7289T>G (p.Val2430Gly) c.6989T>G (p.Val2330Gly) c.4253T>G (p.Val1418Gly) c.3146T>G (p.Val1049Gly) n.1830+5659A>C c.7172T>G (p.Val2391Gly) c.2924T>G (p.Val975Gly) c.6152T>G (p.Val2051Gly) | |
8 | g.99776820G>A | CA462449158 | VPS13B | c.7368G>A (p.Val2456=) n.7438G>A c.*3050G>A (n.*3050G>A) c.7293G>A (p.Val2431=) n.378-1862G>A c.7365G>A (p.Val2455=) c.7290G>A (p.Val2430=) c.6990G>A (p.Val2330=) c.4254G>A (p.Val1418=) c.3147G>A (p.Val1049=) n.1830+5658C>T c.7173G>A (p.Val2391=) c.2925G>A (p.Val975=) c.6153G>A (p.Val2051=) | ClinVar |
8 | g.99776820G>C | CA462449159 | VPS13B | c.7368G>C (p.Val2456=) n.7438G>C c.*3050G>C (n.*3050G>C) c.7293G>C (p.Val2431=) n.378-1862G>C c.7365G>C (p.Val2455=) c.7290G>C (p.Val2430=) c.6990G>C (p.Val2330=) c.4254G>C (p.Val1418=) c.3147G>C (p.Val1049=) n.1830+5658C>G c.7173G>C (p.Val2391=) c.2925G>C (p.Val975=) c.6153G>C (p.Val2051=) | |
8 | g.99776820G>T | CA462449160 | VPS13B | c.7368G>T (p.Val2456=) n.7438G>T c.*3050G>T (n.*3050G>T) c.7293G>T (p.Val2431=) n.378-1862G>T c.7365G>T (p.Val2455=) c.7290G>T (p.Val2430=) c.6990G>T (p.Val2330=) c.4254G>T (p.Val1418=) c.3147G>T (p.Val1049=) n.1830+5658C>A c.7173G>T (p.Val2391=) c.2925G>T (p.Val975=) c.6153G>T (p.Val2051=) | |
8 | g.99776821A>C | CA371875632 | VPS13B | c.7369A>C (p.Thr2457Pro) n.7439A>C c.*3051A>C (n.*3051A>C) c.7294A>C (p.Thr2432Pro) n.378-1861A>C c.7366A>C (p.Thr2456Pro) c.7291A>C (p.Thr2431Pro) c.6991A>C (p.Thr2331Pro) c.4255A>C (p.Thr1419Pro) c.3148A>C (p.Thr1050Pro) n.1830+5657T>G c.7174A>C (p.Thr2392Pro) c.2926A>C (p.Thr976Pro) c.6154A>C (p.Thr2052Pro) | |
8 | g.99776821A>G | CA371875633 | VPS13B | c.7369A>G (p.Thr2457Ala) n.7439A>G c.*3051A>G (n.*3051A>G) c.7294A>G (p.Thr2432Ala) n.378-1861A>G c.7366A>G (p.Thr2456Ala) c.7291A>G (p.Thr2431Ala) c.6991A>G (p.Thr2331Ala) c.4255A>G (p.Thr1419Ala) c.3148A>G (p.Thr1050Ala) n.1830+5657T>C c.7174A>G (p.Thr2392Ala) c.2926A>G (p.Thr976Ala) c.6154A>G (p.Thr2052Ala) | |
8 | g.99776821A>T | CA371875634 | VPS13B | c.7369A>T (p.Thr2457Ser) n.7439A>T c.*3051A>T (n.*3051A>T) c.7294A>T (p.Thr2432Ser) n.378-1861A>T c.7366A>T (p.Thr2456Ser) c.7291A>T (p.Thr2431Ser) c.6991A>T (p.Thr2331Ser) c.4255A>T (p.Thr1419Ser) c.3148A>T (p.Thr1050Ser) n.1830+5657T>A c.7174A>T (p.Thr2392Ser) c.2926A>T (p.Thr976Ser) c.6154A>T (p.Thr2052Ser) | |
8 | g.99776822C>A | CA371875635 | VPS13B | c.7370C>A (p.Thr2457Asn) n.7440C>A c.*3052C>A (n.*3052C>A) c.7295C>A (p.Thr2432Asn) n.378-1860C>A c.7367C>A (p.Thr2456Asn) c.7292C>A (p.Thr2431Asn) c.6992C>A (p.Thr2331Asn) c.4256C>A (p.Thr1419Asn) c.3149C>A (p.Thr1050Asn) n.1830+5656G>T c.7175C>A (p.Thr2392Asn) c.2927C>A (p.Thr976Asn) c.6155C>A (p.Thr2052Asn) | |
8 | g.99776822C>G | CA371875636 | VPS13B | c.7370C>G (p.Thr2457Ser) n.7440C>G c.*3052C>G (n.*3052C>G) c.7295C>G (p.Thr2432Ser) n.378-1860C>G c.7367C>G (p.Thr2456Ser) c.7292C>G (p.Thr2431Ser) c.6992C>G (p.Thr2331Ser) c.4256C>G (p.Thr1419Ser) c.3149C>G (p.Thr1050Ser) n.1830+5656G>C c.7175C>G (p.Thr2392Ser) c.2927C>G (p.Thr976Ser) c.6155C>G (p.Thr2052Ser) | |
8 | g.99776822C>T | CA371875637 | VPS13B | c.7370C>T (p.Thr2457Ile) n.7440C>T c.*3052C>T (n.*3052C>T) c.7295C>T (p.Thr2432Ile) n.378-1860C>T c.7367C>T (p.Thr2456Ile) c.7292C>T (p.Thr2431Ile) c.6992C>T (p.Thr2331Ile) c.4256C>T (p.Thr1419Ile) c.3149C>T (p.Thr1050Ile) n.1830+5656G>A c.7175C>T (p.Thr2392Ile) c.2927C>T (p.Thr976Ile) c.6155C>T (p.Thr2052Ile) | ClinVar dbSNP |
8 | g.99776823T>A | CA462449161 | VPS13B | c.7371T>A (p.Thr2457=) n.7441T>A c.*3053T>A (n.*3053T>A) c.7296T>A (p.Thr2432=) n.378-1859T>A c.7368T>A (p.Thr2456=) c.7293T>A (p.Thr2431=) c.6993T>A (p.Thr2331=) c.4257T>A (p.Thr1419=) c.3150T>A (p.Thr1050=) n.1830+5655A>T c.7176T>A (p.Thr2392=) c.2928T>A (p.Thr976=) c.6156T>A (p.Thr2052=) | |
8 | g.99776823T>C | CA462449162 | VPS13B | c.7371T>C (p.Thr2457=) n.7441T>C c.*3053T>C (n.*3053T>C) c.7296T>C (p.Thr2432=) n.378-1859T>C c.7368T>C (p.Thr2456=) c.7293T>C (p.Thr2431=) c.6993T>C (p.Thr2331=) c.4257T>C (p.Thr1419=) c.3150T>C (p.Thr1050=) n.1830+5655A>G c.7176T>C (p.Thr2392=) c.2928T>C (p.Thr976=) c.6156T>C (p.Thr2052=) | |
8 | g.99776823T>G | CA462449163 | VPS13B | c.7371T>G (p.Thr2457=) n.7441T>G c.*3053T>G (n.*3053T>G) c.7296T>G (p.Thr2432=) n.378-1859T>G c.7368T>G (p.Thr2456=) c.7293T>G (p.Thr2431=) c.6993T>G (p.Thr2331=) c.4257T>G (p.Thr1419=) c.3150T>G (p.Thr1050=) n.1830+5655A>C c.7176T>G (p.Thr2392=) c.2928T>G (p.Thr976=) c.6156T>G (p.Thr2052=) | |
8 | g.99776824C>A | CA371875638 | VPS13B | c.7372C>A (p.Pro2458Thr) n.7442C>A c.*3054C>A (n.*3054C>A) c.7297C>A (p.Pro2433Thr) n.378-1858C>A c.7369C>A (p.Pro2457Thr) c.7294C>A (p.Pro2432Thr) c.6994C>A (p.Pro2332Thr) c.4258C>A (p.Pro1420Thr) c.3151C>A (p.Pro1051Thr) n.1830+5654G>T c.7177C>A (p.Pro2393Thr) c.2929C>A (p.Pro977Thr) c.6157C>A (p.Pro2053Thr) | |
8 | g.99776824C>G | CA371875639 | VPS13B | c.7372C>G (p.Pro2458Ala) n.7442C>G c.*3054C>G (n.*3054C>G) c.7297C>G (p.Pro2433Ala) n.378-1858C>G c.7369C>G (p.Pro2457Ala) c.7294C>G (p.Pro2432Ala) c.6994C>G (p.Pro2332Ala) c.4258C>G (p.Pro1420Ala) c.3151C>G (p.Pro1051Ala) n.1830+5654G>C c.7177C>G (p.Pro2393Ala) c.2929C>G (p.Pro977Ala) c.6157C>G (p.Pro2053Ala) | |
8 | g.99776824C>T | CA183041714 | VPS13B | c.7372C>T (p.Pro2458Ser) n.7442C>T c.*3054C>T (n.*3054C>T) c.7297C>T (p.Pro2433Ser) n.378-1858C>T c.7369C>T (p.Pro2457Ser) c.7294C>T (p.Pro2432Ser) c.6994C>T (p.Pro2332Ser) c.4258C>T (p.Pro1420Ser) c.3151C>T (p.Pro1051Ser) n.1830+5654G>A c.7177C>T (p.Pro2393Ser) c.2929C>T (p.Pro977Ser) c.6157C>T (p.Pro2053Ser) | dbSNP |
8 | g.99776825dup | CA2688068076 | VPS13B | c.7373dup (p.Thr2459AsnfsTer10) n.7443dup c.*3055dup (n.*3055dup) c.7298dup (p.Thr2434AsnfsTer10) n.378-1857dup c.7370dup (p.Thr2458AsnfsTer10) c.7295dup (p.Thr2433AsnfsTer10) c.6995dup (p.Thr2333AsnfsTer10) c.4259dup (p.Thr1421AsnfsTer10) c.3152dup (p.Thr1052AsnfsTer10) n.1830+5654dup c.7178dup (p.Thr2394AsnfsTer10) c.2930dup (p.Thr978AsnfsTer10) c.6158dup (p.Thr2054AsnfsTer10) | gnomAD v4 |
8 | g.99776825C>A | CA371875640 | VPS13B | c.7373C>A (p.Pro2458Gln) n.7443C>A c.*3055C>A (n.*3055C>A) c.7298C>A (p.Pro2433Gln) n.378-1857C>A c.7370C>A (p.Pro2457Gln) c.7295C>A (p.Pro2432Gln) c.6995C>A (p.Pro2332Gln) c.4259C>A (p.Pro1420Gln) c.3152C>A (p.Pro1051Gln) n.1830+5653G>T c.7178C>A (p.Pro2393Gln) c.2930C>A (p.Pro977Gln) c.6158C>A (p.Pro2053Gln) | |
8 | g.99776825C>G | CA371875641 | VPS13B | c.7373C>G (p.Pro2458Arg) n.7443C>G c.*3055C>G (n.*3055C>G) c.7298C>G (p.Pro2433Arg) n.378-1857C>G c.7370C>G (p.Pro2457Arg) c.7295C>G (p.Pro2432Arg) c.6995C>G (p.Pro2332Arg) c.4259C>G (p.Pro1420Arg) c.3152C>G (p.Pro1051Arg) n.1830+5653G>C c.7178C>G (p.Pro2393Arg) c.2930C>G (p.Pro977Arg) c.6158C>G (p.Pro2053Arg) | |
8 | g.99776825C>T | CA371875642 | VPS13B | c.7373C>T (p.Pro2458Leu) n.7443C>T c.*3055C>T (n.*3055C>T) c.7298C>T (p.Pro2433Leu) n.378-1857C>T c.7370C>T (p.Pro2457Leu) c.7295C>T (p.Pro2432Leu) c.6995C>T (p.Pro2332Leu) c.4259C>T (p.Pro1420Leu) c.3152C>T (p.Pro1051Leu) n.1830+5653G>A c.7178C>T (p.Pro2393Leu) c.2930C>T (p.Pro977Leu) c.6158C>T (p.Pro2053Leu) | |
8 | g.99776826A>C | CA462449164 | VPS13B | c.7374A>C (p.Pro2458=) n.7444A>C c.*3056A>C (n.*3056A>C) c.7299A>C (p.Pro2433=) n.378-1856A>C c.7371A>C (p.Pro2457=) c.7296A>C (p.Pro2432=) c.6996A>C (p.Pro2332=) c.4260A>C (p.Pro1420=) c.3153A>C (p.Pro1051=) n.1830+5652T>G c.7179A>C (p.Pro2393=) c.2931A>C (p.Pro977=) c.6159A>C (p.Pro2053=) | |
8 | g.99776826A>G | CA462449165 | VPS13B | c.7374A>G (p.Pro2458=) n.7444A>G c.*3056A>G (n.*3056A>G) c.7299A>G (p.Pro2433=) n.378-1856A>G c.7371A>G (p.Pro2457=) c.7296A>G (p.Pro2432=) c.6996A>G (p.Pro2332=) c.4260A>G (p.Pro1420=) c.3153A>G (p.Pro1051=) n.1830+5652T>C c.7179A>G (p.Pro2393=) c.2931A>G (p.Pro977=) c.6159A>G (p.Pro2053=) | ClinVar dbSNP |
8 | g.99776826A>T | CA462449166 | VPS13B | c.7374A>T (p.Pro2458=) n.7444A>T c.*3056A>T (n.*3056A>T) c.7299A>T (p.Pro2433=) n.378-1856A>T c.7371A>T (p.Pro2457=) c.7296A>T (p.Pro2432=) c.6996A>T (p.Pro2332=) c.4260A>T (p.Pro1420=) c.3153A>T (p.Pro1051=) n.1830+5652T>A c.7179A>T (p.Pro2393=) c.2931A>T (p.Pro977=) c.6159A>T (p.Pro2053=) | |
8 | g.99776827A>C | CA371875643 | VPS13B | c.7375A>C (p.Thr2459Pro) n.7445A>C c.*3057A>C (n.*3057A>C) c.7300A>C (p.Thr2434Pro) n.378-1855A>C c.7372A>C (p.Thr2458Pro) c.7297A>C (p.Thr2433Pro) c.6997A>C (p.Thr2333Pro) c.4261A>C (p.Thr1421Pro) c.3154A>C (p.Thr1052Pro) n.1830+5651T>G c.7180A>C (p.Thr2394Pro) c.2932A>C (p.Thr978Pro) c.6160A>C (p.Thr2054Pro) | |
8 | g.99776827A>G | CA4824189 | VPS13B | c.7375A>G (p.Thr2459Ala) n.7445A>G c.*3057A>G (n.*3057A>G) c.7300A>G (p.Thr2434Ala) n.378-1855A>G c.7372A>G (p.Thr2458Ala) c.7297A>G (p.Thr2433Ala) c.6997A>G (p.Thr2333Ala) c.4261A>G (p.Thr1421Ala) c.3154A>G (p.Thr1052Ala) n.1830+5651T>C c.7180A>G (p.Thr2394Ala) c.2932A>G (p.Thr978Ala) c.6160A>G (p.Thr2054Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99776827A>T | CA371875644 | VPS13B | c.7375A>T (p.Thr2459Ser) n.7445A>T c.*3057A>T (n.*3057A>T) c.7300A>T (p.Thr2434Ser) n.378-1855A>T c.7372A>T (p.Thr2458Ser) c.7297A>T (p.Thr2433Ser) c.6997A>T (p.Thr2333Ser) c.4261A>T (p.Thr1421Ser) c.3154A>T (p.Thr1052Ser) n.1830+5651T>A c.7180A>T (p.Thr2394Ser) c.2932A>T (p.Thr978Ser) c.6160A>T (p.Thr2054Ser) | |
8 | g.99776828C>A | CA371875645 | VPS13B | c.7376C>A (p.Thr2459Lys) n.7446C>A c.*3058C>A (n.*3058C>A) c.7301C>A (p.Thr2434Lys) n.378-1854C>A c.7373C>A (p.Thr2458Lys) c.7298C>A (p.Thr2433Lys) c.6998C>A (p.Thr2333Lys) c.4262C>A (p.Thr1421Lys) c.3155C>A (p.Thr1052Lys) n.1830+5650G>T c.7181C>A (p.Thr2394Lys) c.2933C>A (p.Thr978Lys) c.6161C>A (p.Thr2054Lys) | |
8 | g.99776828C>G | CA371875646 | VPS13B | c.7376C>G (p.Thr2459Arg) n.7446C>G c.*3058C>G (n.*3058C>G) c.7301C>G (p.Thr2434Arg) n.378-1854C>G c.7373C>G (p.Thr2458Arg) c.7298C>G (p.Thr2433Arg) c.6998C>G (p.Thr2333Arg) c.4262C>G (p.Thr1421Arg) c.3155C>G (p.Thr1052Arg) n.1830+5650G>C c.7181C>G (p.Thr2394Arg) c.2933C>G (p.Thr978Arg) c.6161C>G (p.Thr2054Arg) | dbSNP gnomAD v4 |
8 | g.99776828C>T | CA371875647 | VPS13B | c.7376C>T (p.Thr2459Ile) n.7446C>T c.*3058C>T (n.*3058C>T) c.7301C>T (p.Thr2434Ile) n.378-1854C>T c.7373C>T (p.Thr2458Ile) c.7298C>T (p.Thr2433Ile) c.6998C>T (p.Thr2333Ile) c.4262C>T (p.Thr1421Ile) c.3155C>T (p.Thr1052Ile) n.1830+5650G>A c.7181C>T (p.Thr2394Ile) c.2933C>T (p.Thr978Ile) c.6161C>T (p.Thr2054Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99776829A>C | CA462449167 | VPS13B | c.7377A>C (p.Thr2459=) n.7447A>C c.*3059A>C (n.*3059A>C) c.7302A>C (p.Thr2434=) n.378-1853A>C c.7374A>C (p.Thr2458=) c.7299A>C (p.Thr2433=) c.6999A>C (p.Thr2333=) c.4263A>C (p.Thr1421=) c.3156A>C (p.Thr1052=) n.1830+5649T>G c.7182A>C (p.Thr2394=) c.2934A>C (p.Thr978=) c.6162A>C (p.Thr2054=) | |
8 | g.99776829A>G | CA462449168 | VPS13B | c.7377A>G (p.Thr2459=) n.7447A>G c.*3059A>G (n.*3059A>G) c.7302A>G (p.Thr2434=) n.378-1853A>G c.7374A>G (p.Thr2458=) c.7299A>G (p.Thr2433=) c.6999A>G (p.Thr2333=) c.4263A>G (p.Thr1421=) c.3156A>G (p.Thr1052=) n.1830+5649T>C c.7182A>G (p.Thr2394=) c.2934A>G (p.Thr978=) c.6162A>G (p.Thr2054=) | ClinVar dbSNP |
8 | g.99776829A>T | CA462449169 | VPS13B | c.7377A>T (p.Thr2459=) n.7447A>T c.*3059A>T (n.*3059A>T) c.7302A>T (p.Thr2434=) n.378-1853A>T c.7374A>T (p.Thr2458=) c.7299A>T (p.Thr2433=) c.6999A>T (p.Thr2333=) c.4263A>T (p.Thr1421=) c.3156A>T (p.Thr1052=) n.1830+5649T>A c.7182A>T (p.Thr2394=) c.2934A>T (p.Thr978=) c.6162A>T (p.Thr2054=) | |
8 | g.99776830G>A | CA371875648 | VPS13B | c.7378G>A (p.Ala2460Thr) n.7448G>A c.*3060G>A (n.*3060G>A) c.7303G>A (p.Ala2435Thr) n.378-1852G>A c.7375G>A (p.Ala2459Thr) c.7300G>A (p.Ala2434Thr) c.7000G>A (p.Ala2334Thr) c.4264G>A (p.Ala1422Thr) c.3157G>A (p.Ala1053Thr) n.1830+5648C>T c.7183G>A (p.Ala2395Thr) c.2935G>A (p.Ala979Thr) c.6163G>A (p.Ala2055Thr) | gnomAD v4 |
8 | g.99776830G>C | CA371875649 | VPS13B | c.7378G>C (p.Ala2460Pro) n.7448G>C c.*3060G>C (n.*3060G>C) c.7303G>C (p.Ala2435Pro) n.378-1852G>C c.7375G>C (p.Ala2459Pro) c.7300G>C (p.Ala2434Pro) c.7000G>C (p.Ala2334Pro) c.4264G>C (p.Ala1422Pro) c.3157G>C (p.Ala1053Pro) n.1830+5648C>G c.7183G>C (p.Ala2395Pro) c.2935G>C (p.Ala979Pro) c.6163G>C (p.Ala2055Pro) | |
8 | g.99776830G>T | CA371875650 | VPS13B | c.7378G>T (p.Ala2460Ser) n.7448G>T c.*3060G>T (n.*3060G>T) c.7303G>T (p.Ala2435Ser) n.378-1852G>T c.7375G>T (p.Ala2459Ser) c.7300G>T (p.Ala2434Ser) c.7000G>T (p.Ala2334Ser) c.4264G>T (p.Ala1422Ser) c.3157G>T (p.Ala1053Ser) n.1830+5648C>A c.7183G>T (p.Ala2395Ser) c.2935G>T (p.Ala979Ser) c.6163G>T (p.Ala2055Ser) | |
8 | g.99776831C>A | CA371875651 | VPS13B | c.7379C>A (p.Ala2460Asp) n.7449C>A c.*3061C>A (n.*3061C>A) c.7304C>A (p.Ala2435Asp) n.378-1851C>A c.7376C>A (p.Ala2459Asp) c.7301C>A (p.Ala2434Asp) c.7001C>A (p.Ala2334Asp) c.4265C>A (p.Ala1422Asp) c.3158C>A (p.Ala1053Asp) n.1830+5647G>T c.7184C>A (p.Ala2395Asp) c.2936C>A (p.Ala979Asp) c.6164C>A (p.Ala2055Asp) | |
8 | g.99776831C>G | CA371875652 | VPS13B | c.7379C>G (p.Ala2460Gly) n.7449C>G c.*3061C>G (n.*3061C>G) c.7304C>G (p.Ala2435Gly) n.378-1851C>G c.7376C>G (p.Ala2459Gly) c.7301C>G (p.Ala2434Gly) c.7001C>G (p.Ala2334Gly) c.4265C>G (p.Ala1422Gly) c.3158C>G (p.Ala1053Gly) n.1830+5647G>C c.7184C>G (p.Ala2395Gly) c.2936C>G (p.Ala979Gly) c.6164C>G (p.Ala2055Gly) | |
8 | g.99776831C>T | CA4824190 | VPS13B | c.7379C>T (p.Ala2460Val) n.7449C>T c.*3061C>T (n.*3061C>T) c.7304C>T (p.Ala2435Val) n.378-1851C>T c.7376C>T (p.Ala2459Val) c.7301C>T (p.Ala2434Val) c.7001C>T (p.Ala2334Val) c.4265C>T (p.Ala1422Val) c.3158C>T (p.Ala1053Val) n.1830+5647G>A c.7184C>T (p.Ala2395Val) c.2936C>T (p.Ala979Val) c.6164C>T (p.Ala2055Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776832C>A | CA183041719 | VPS13B | c.7380C>A (p.Ala2460=) n.7450C>A c.*3062C>A (n.*3062C>A) c.7305C>A (p.Ala2435=) n.378-1850C>A c.7377C>A (p.Ala2459=) c.7302C>A (p.Ala2434=) c.7002C>A (p.Ala2334=) c.4266C>A (p.Ala1422=) c.3159C>A (p.Ala1053=) n.1830+5646G>T c.7185C>A (p.Ala2395=) c.2937C>A (p.Ala979=) c.6165C>A (p.Ala2055=) | dbSNP |
8 | g.99776832C>G | CA462449170 | VPS13B | c.7380C>G (p.Ala2460=) n.7450C>G c.*3062C>G (n.*3062C>G) c.7305C>G (p.Ala2435=) n.378-1850C>G c.7377C>G (p.Ala2459=) c.7302C>G (p.Ala2434=) c.7002C>G (p.Ala2334=) c.4266C>G (p.Ala1422=) c.3159C>G (p.Ala1053=) n.1830+5646G>C c.7185C>G (p.Ala2395=) c.2937C>G (p.Ala979=) c.6165C>G (p.Ala2055=) | |
8 | g.99776832C>T | CA462449171 | VPS13B | c.7380C>T (p.Ala2460=) n.7450C>T c.*3062C>T (n.*3062C>T) c.7305C>T (p.Ala2435=) n.378-1850C>T c.7377C>T (p.Ala2459=) c.7302C>T (p.Ala2434=) c.7002C>T (p.Ala2334=) c.4266C>T (p.Ala1422=) c.3159C>T (p.Ala1053=) n.1830+5646G>A c.7185C>T (p.Ala2395=) c.2937C>T (p.Ala979=) c.6165C>T (p.Ala2055=) | ClinVar gnomAD v4 |
8 | g.99776833C>A | CA371875654 | VPS13B | c.7381C>A (p.Leu2461Met) n.7451C>A c.*3063C>A (n.*3063C>A) c.7306C>A (p.Leu2436Met) n.378-1849C>A c.7378C>A (p.Leu2460Met) c.7303C>A (p.Leu2435Met) c.7003C>A (p.Leu2335Met) c.4267C>A (p.Leu1423Met) c.3160C>A (p.Leu1054Met) n.1830+5645G>T c.7186C>A (p.Leu2396Met) c.2938C>A (p.Leu980Met) c.6166C>A (p.Leu2056Met) | |
8 | g.99776833C>G | CA371875653 | VPS13B | c.7381C>G (p.Leu2461Val) n.7451C>G c.*3063C>G (n.*3063C>G) c.7306C>G (p.Leu2436Val) n.378-1849C>G c.7378C>G (p.Leu2460Val) c.7303C>G (p.Leu2435Val) c.7003C>G (p.Leu2335Val) c.4267C>G (p.Leu1423Val) c.3160C>G (p.Leu1054Val) n.1830+5645G>C c.7186C>G (p.Leu2396Val) c.2938C>G (p.Leu980Val) c.6166C>G (p.Leu2056Val) | |
8 | g.99776833C>T | CA4824191 | VPS13B | c.7381C>T (p.Leu2461=) n.7451C>T c.*3063C>T (n.*3063C>T) c.7306C>T (p.Leu2436=) n.378-1849C>T c.7378C>T (p.Leu2460=) c.7303C>T (p.Leu2435=) c.7003C>T (p.Leu2335=) c.4267C>T (p.Leu1423=) c.3160C>T (p.Leu1054=) n.1830+5645G>A c.7186C>T (p.Leu2396=) c.2938C>T (p.Leu980=) c.6166C>T (p.Leu2056=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776834T>A | CA371875655 | VPS13B | c.7382T>A (p.Leu2461Gln) n.7452T>A c.*3064T>A (n.*3064T>A) c.7307T>A (p.Leu2436Gln) n.378-1848T>A c.7379T>A (p.Leu2460Gln) c.7304T>A (p.Leu2435Gln) c.7004T>A (p.Leu2335Gln) c.4268T>A (p.Leu1423Gln) c.3161T>A (p.Leu1054Gln) n.1830+5644A>T c.7187T>A (p.Leu2396Gln) c.2939T>A (p.Leu980Gln) c.6167T>A (p.Leu2056Gln) | |
8 | g.99776834T>C | CA371875656 | VPS13B | c.7382T>C (p.Leu2461Pro) n.7452T>C c.*3064T>C (n.*3064T>C) c.7307T>C (p.Leu2436Pro) n.378-1848T>C c.7379T>C (p.Leu2460Pro) c.7304T>C (p.Leu2435Pro) c.7004T>C (p.Leu2335Pro) c.4268T>C (p.Leu1423Pro) c.3161T>C (p.Leu1054Pro) n.1830+5644A>G c.7187T>C (p.Leu2396Pro) c.2939T>C (p.Leu980Pro) c.6167T>C (p.Leu2056Pro) | |
8 | g.99776834T>G | CA371875657 | VPS13B | c.7382T>G (p.Leu2461Arg) n.7452T>G c.*3064T>G (n.*3064T>G) c.7307T>G (p.Leu2436Arg) n.378-1848T>G c.7379T>G (p.Leu2460Arg) c.7304T>G (p.Leu2435Arg) c.7004T>G (p.Leu2335Arg) c.4268T>G (p.Leu1423Arg) c.3161T>G (p.Leu1054Arg) n.1830+5644A>C c.7187T>G (p.Leu2396Arg) c.2939T>G (p.Leu980Arg) c.6167T>G (p.Leu2056Arg) | |
8 | g.99776835G>A | CA462449172 | VPS13B | c.7383G>A (p.Leu2461=) n.7453G>A c.*3065G>A (n.*3065G>A) c.7308G>A (p.Leu2436=) n.378-1847G>A c.7380G>A (p.Leu2460=) c.7305G>A (p.Leu2435=) c.7005G>A (p.Leu2335=) c.4269G>A (p.Leu1423=) c.3162G>A (p.Leu1054=) n.1830+5643C>T c.7188G>A (p.Leu2396=) c.2940G>A (p.Leu980=) c.6168G>A (p.Leu2056=) | gnomAD v4 |
8 | g.99776835G>C | CA462449174 | VPS13B | c.7383G>C (p.Leu2461=) n.7453G>C c.*3065G>C (n.*3065G>C) c.7308G>C (p.Leu2436=) n.378-1847G>C c.7380G>C (p.Leu2460=) c.7305G>C (p.Leu2435=) c.7005G>C (p.Leu2335=) c.4269G>C (p.Leu1423=) c.3162G>C (p.Leu1054=) n.1830+5643C>G c.7188G>C (p.Leu2396=) c.2940G>C (p.Leu980=) c.6168G>C (p.Leu2056=) | |
8 | g.99776835G>T | CA462449173 | VPS13B | c.7383G>T (p.Leu2461=) n.7453G>T c.*3065G>T (n.*3065G>T) c.7308G>T (p.Leu2436=) n.378-1847G>T c.7380G>T (p.Leu2460=) c.7305G>T (p.Leu2435=) c.7005G>T (p.Leu2335=) c.4269G>T (p.Leu1423=) c.3162G>T (p.Leu1054=) n.1830+5643C>A c.7188G>T (p.Leu2396=) c.2940G>T (p.Leu980=) c.6168G>T (p.Leu2056=) | ClinVar |
8 | g.99776836G>A | CA371875658 | VPS13B | c.7384G>A (p.Ala2462Thr) n.7454G>A c.*3066G>A (n.*3066G>A) c.7309G>A (p.Ala2437Thr) n.378-1846G>A c.7381G>A (p.Ala2461Thr) c.7306G>A (p.Ala2436Thr) c.7006G>A (p.Ala2336Thr) c.4270G>A (p.Ala1424Thr) c.3163G>A (p.Ala1055Thr) n.1830+5642C>T c.7189G>A (p.Ala2397Thr) c.2941G>A (p.Ala981Thr) c.6169G>A (p.Ala2057Thr) | |
8 | g.99776836G>C | CA371875659 | VPS13B | c.7384G>C (p.Ala2462Pro) n.7454G>C c.*3066G>C (n.*3066G>C) c.7309G>C (p.Ala2437Pro) n.378-1846G>C c.7381G>C (p.Ala2461Pro) c.7306G>C (p.Ala2436Pro) c.7006G>C (p.Ala2336Pro) c.4270G>C (p.Ala1424Pro) c.3163G>C (p.Ala1055Pro) n.1830+5642C>G c.7189G>C (p.Ala2397Pro) c.2941G>C (p.Ala981Pro) c.6169G>C (p.Ala2057Pro) | |
8 | g.99776836G>T | CA371875660 | VPS13B | c.7384G>T (p.Ala2462Ser) n.7454G>T c.*3066G>T (n.*3066G>T) c.7309G>T (p.Ala2437Ser) n.378-1846G>T c.7381G>T (p.Ala2461Ser) c.7306G>T (p.Ala2436Ser) c.7006G>T (p.Ala2336Ser) c.4270G>T (p.Ala1424Ser) c.3163G>T (p.Ala1055Ser) n.1830+5642C>A c.7189G>T (p.Ala2397Ser) c.2941G>T (p.Ala981Ser) c.6169G>T (p.Ala2057Ser) | |
8 | g.99776837C>A | CA371875661 | VPS13B | c.7385C>A (p.Ala2462Asp) n.7455C>A c.*3067C>A (n.*3067C>A) c.7310C>A (p.Ala2437Asp) n.378-1845C>A c.7382C>A (p.Ala2461Asp) c.7307C>A (p.Ala2436Asp) c.7007C>A (p.Ala2336Asp) c.4271C>A (p.Ala1424Asp) c.3164C>A (p.Ala1055Asp) n.1830+5641G>T c.7190C>A (p.Ala2397Asp) c.2942C>A (p.Ala981Asp) c.6170C>A (p.Ala2057Asp) | |
8 | g.99776837C>G | CA371875662 | VPS13B | c.7385C>G (p.Ala2462Gly) n.7455C>G c.*3067C>G (n.*3067C>G) c.7310C>G (p.Ala2437Gly) n.378-1845C>G c.7382C>G (p.Ala2461Gly) c.7307C>G (p.Ala2436Gly) c.7007C>G (p.Ala2336Gly) c.4271C>G (p.Ala1424Gly) c.3164C>G (p.Ala1055Gly) n.1830+5641G>C c.7190C>G (p.Ala2397Gly) c.2942C>G (p.Ala981Gly) c.6170C>G (p.Ala2057Gly) | gnomAD v4 |
8 | g.99776837C>T | CA371875663 | VPS13B | c.7385C>T (p.Ala2462Val) n.7455C>T c.*3067C>T (n.*3067C>T) c.7310C>T (p.Ala2437Val) n.378-1845C>T c.7382C>T (p.Ala2461Val) c.7307C>T (p.Ala2436Val) c.7007C>T (p.Ala2336Val) c.4271C>T (p.Ala1424Val) c.3164C>T (p.Ala1055Val) n.1830+5641G>A c.7190C>T (p.Ala2397Val) c.2942C>T (p.Ala981Val) c.6170C>T (p.Ala2057Val) | gnomAD v4 |
8 | g.99776838T>A | CA462449175 | VPS13B | c.7386T>A (p.Ala2462=) n.7456T>A c.*3068T>A (n.*3068T>A) c.7311T>A (p.Ala2437=) n.378-1844T>A c.7383T>A (p.Ala2461=) c.7308T>A (p.Ala2436=) c.7008T>A (p.Ala2336=) c.4272T>A (p.Ala1424=) c.3165T>A (p.Ala1055=) n.1830+5640A>T c.7191T>A (p.Ala2397=) c.2943T>A (p.Ala981=) c.6171T>A (p.Ala2057=) | |
8 | g.99776838T>C | CA462449176 | VPS13B | c.7386T>C (p.Ala2462=) n.7456T>C c.*3068T>C (n.*3068T>C) c.7311T>C (p.Ala2437=) n.378-1844T>C c.7383T>C (p.Ala2461=) c.7308T>C (p.Ala2436=) c.7008T>C (p.Ala2336=) c.4272T>C (p.Ala1424=) c.3165T>C (p.Ala1055=) n.1830+5640A>G c.7191T>C (p.Ala2397=) c.2943T>C (p.Ala981=) c.6171T>C (p.Ala2057=) | |
8 | g.99776838T>G | CA462449177 | VPS13B | c.7386T>G (p.Ala2462=) n.7456T>G c.*3068T>G (n.*3068T>G) c.7311T>G (p.Ala2437=) n.378-1844T>G c.7383T>G (p.Ala2461=) c.7308T>G (p.Ala2436=) c.7008T>G (p.Ala2336=) c.4272T>G (p.Ala1424=) c.3165T>G (p.Ala1055=) n.1830+5640A>C c.7191T>G (p.Ala2397=) c.2943T>G (p.Ala981=) c.6171T>G (p.Ala2057=) | ClinVar dbSNP |
8 | g.99776838_99776839insAGGCA | CA915946659 | VPS13B | c.7386_7387insAGGCA (p.Ala2463ArgfsTer?) n.7456_7457insAGGCA c.*3068_*3069insAGGCA (n.*3068_*3069insAGGCA) c.7311_7312insAGGCA (p.Ala2438ArgfsTer?) n.378-1844_378-1843insAGGCA c.7383_7384insAGGCA (p.Ala2462ArgfsTer?) c.7308_7309insAGGCA (p.Ala2437ArgfsTer?) c.7008_7009insAGGCA (p.Ala2337ArgfsTer?) c.4272_4273insAGGCA (p.Ala1425ArgfsTer?) c.3165_3166insAGGCA (p.Ala1056ArgfsTer?) n.1830+5639_1830+5640insTGCCT c.7191_7192insAGGCA (p.Ala2398ArgfsTer?) c.2943_2944insAGGCA (p.Ala982ArgfsTer?) c.6171_6172insAGGCA (p.Ala2058ArgfsTer?) | ClinVar dbSNP |
8 | g.99776839G>A | CA371875664 | VPS13B | c.7387G>A (p.Ala2463Thr) n.7457G>A c.*3069G>A (n.*3069G>A) c.7312G>A (p.Ala2438Thr) n.378-1843G>A c.7384G>A (p.Ala2462Thr) c.7309G>A (p.Ala2437Thr) c.7009G>A (p.Ala2337Thr) c.4273G>A (p.Ala1425Thr) c.3166G>A (p.Ala1056Thr) n.1830+5639C>T c.7192G>A (p.Ala2398Thr) c.2944G>A (p.Ala982Thr) c.6172G>A (p.Ala2058Thr) | gnomAD v4 |
8 | g.99776839G>C | CA371875665 | VPS13B | c.7387G>C (p.Ala2463Pro) n.7457G>C c.*3069G>C (n.*3069G>C) c.7312G>C (p.Ala2438Pro) n.378-1843G>C c.7384G>C (p.Ala2462Pro) c.7309G>C (p.Ala2437Pro) c.7009G>C (p.Ala2337Pro) c.4273G>C (p.Ala1425Pro) c.3166G>C (p.Ala1056Pro) n.1830+5639C>G c.7192G>C (p.Ala2398Pro) c.2944G>C (p.Ala982Pro) c.6172G>C (p.Ala2058Pro) | |
8 | g.99776839G>T | CA371875666 | VPS13B | c.7387G>T (p.Ala2463Ser) n.7457G>T c.*3069G>T (n.*3069G>T) c.7312G>T (p.Ala2438Ser) n.378-1843G>T c.7384G>T (p.Ala2462Ser) c.7309G>T (p.Ala2437Ser) c.7009G>T (p.Ala2337Ser) c.4273G>T (p.Ala1425Ser) c.3166G>T (p.Ala1056Ser) n.1830+5639C>A c.7192G>T (p.Ala2398Ser) c.2944G>T (p.Ala982Ser) c.6172G>T (p.Ala2058Ser) | gnomAD v4 |
8 | g.99776839dup | CA913128137 | VPS13B | c.7387dup (p.Ala2463GlyfsTer6) n.7457dup c.*3069dup (n.*3069dup) c.7312dup (p.Ala2438GlyfsTer6) n.378-1843dup c.7384dup (p.Ala2462GlyfsTer6) c.7309dup (p.Ala2437GlyfsTer6) c.7009dup (p.Ala2337GlyfsTer6) c.4273dup (p.Ala1425GlyfsTer6) c.3166dup (p.Ala1056GlyfsTer6) n.1830+5639dup c.7192dup (p.Ala2398GlyfsTer6) c.2944dup (p.Ala982GlyfsTer6) c.6172dup (p.Ala2058GlyfsTer6) | |
8 | g.99776840C>A | CA371875669 | VPS13B | c.7388C>A (p.Ala2463Asp) n.7458C>A c.*3070C>A (n.*3070C>A) c.7313C>A (p.Ala2438Asp) n.378-1842C>A c.7385C>A (p.Ala2462Asp) c.7310C>A (p.Ala2437Asp) c.7010C>A (p.Ala2337Asp) c.4274C>A (p.Ala1425Asp) c.3167C>A (p.Ala1056Asp) n.1830+5638G>T c.7193C>A (p.Ala2398Asp) c.2945C>A (p.Ala982Asp) c.6173C>A (p.Ala2058Asp) | |
8 | g.99776840C>G | CA371875667 | VPS13B | c.7388C>G (p.Ala2463Gly) n.7458C>G c.*3070C>G (n.*3070C>G) c.7313C>G (p.Ala2438Gly) n.378-1842C>G c.7385C>G (p.Ala2462Gly) c.7310C>G (p.Ala2437Gly) c.7010C>G (p.Ala2337Gly) c.4274C>G (p.Ala1425Gly) c.3167C>G (p.Ala1056Gly) n.1830+5638G>C c.7193C>G (p.Ala2398Gly) c.2945C>G (p.Ala982Gly) c.6173C>G (p.Ala2058Gly) | |
8 | g.99776840C>T | CA371875668 | VPS13B | c.7388C>T (p.Ala2463Val) n.7458C>T c.*3070C>T (n.*3070C>T) c.7313C>T (p.Ala2438Val) n.378-1842C>T c.7385C>T (p.Ala2462Val) c.7310C>T (p.Ala2437Val) c.7010C>T (p.Ala2337Val) c.4274C>T (p.Ala1425Val) c.3167C>T (p.Ala1056Val) n.1830+5638G>A c.7193C>T (p.Ala2398Val) c.2945C>T (p.Ala982Val) c.6173C>T (p.Ala2058Val) | |
8 | g.99776841dup | CA658821174 | VPS13B | c.7389dup (p.Cys2464LeufsTer5) n.7459dup c.*3071dup (n.*3071dup) c.7314dup (p.Cys2439LeufsTer5) n.378-1841dup c.7386dup (p.Cys2463LeufsTer5) c.7311dup (p.Cys2438LeufsTer5) c.7011dup (p.Cys2338LeufsTer5) c.4275dup (p.Cys1426LeufsTer5) c.3168dup (p.Cys1057LeufsTer5) n.1830+5638dup c.7194dup (p.Cys2399LeufsTer5) c.2946dup (p.Cys983LeufsTer5) c.6174dup (p.Cys2059LeufsTer5) | ClinVar dbSNP gnomAD v4 |
8 | g.99776841C>A | CA462449178 | VPS13B | c.7389C>A (p.Ala2463=) n.7459C>A c.*3071C>A (n.*3071C>A) c.7314C>A (p.Ala2438=) n.378-1841C>A c.7386C>A (p.Ala2462=) c.7311C>A (p.Ala2437=) c.7011C>A (p.Ala2337=) c.4275C>A (p.Ala1425=) c.3168C>A (p.Ala1056=) n.1830+5637G>T c.7194C>A (p.Ala2398=) c.2946C>A (p.Ala982=) c.6174C>A (p.Ala2058=) | |
8 | g.99776841C>G | CA462449179 | VPS13B | c.7389C>G (p.Ala2463=) n.7459C>G c.*3071C>G (n.*3071C>G) c.7314C>G (p.Ala2438=) n.378-1841C>G c.7386C>G (p.Ala2462=) c.7311C>G (p.Ala2437=) c.7011C>G (p.Ala2337=) c.4275C>G (p.Ala1425=) c.3168C>G (p.Ala1056=) n.1830+5637G>C c.7194C>G (p.Ala2398=) c.2946C>G (p.Ala982=) c.6174C>G (p.Ala2058=) | |
8 | g.99776841C>T | CA462449180 | VPS13B | c.7389C>T (p.Ala2463=) n.7459C>T c.*3071C>T (n.*3071C>T) c.7314C>T (p.Ala2438=) n.378-1841C>T c.7386C>T (p.Ala2462=) c.7311C>T (p.Ala2437=) c.7011C>T (p.Ala2337=) c.4275C>T (p.Ala1425=) c.3168C>T (p.Ala1056=) n.1830+5637G>A c.7194C>T (p.Ala2398=) c.2946C>T (p.Ala982=) c.6174C>T (p.Ala2058=) | |
8 | g.99776842T>A | CA371875670 | VPS13B | c.7390T>A (p.Cys2464Ser) n.7460T>A c.*3072T>A (n.*3072T>A) c.7315T>A (p.Cys2439Ser) n.378-1840T>A c.7387T>A (p.Cys2463Ser) c.7312T>A (p.Cys2438Ser) c.7012T>A (p.Cys2338Ser) c.4276T>A (p.Cys1426Ser) c.3169T>A (p.Cys1057Ser) n.1830+5636A>T c.7195T>A (p.Cys2399Ser) c.2947T>A (p.Cys983Ser) c.6175T>A (p.Cys2059Ser) | |
8 | g.99776842T>C | CA371875671 | VPS13B | c.7390T>C (p.Cys2464Arg) n.7460T>C c.*3072T>C (n.*3072T>C) c.7315T>C (p.Cys2439Arg) n.378-1840T>C c.7387T>C (p.Cys2463Arg) c.7312T>C (p.Cys2438Arg) c.7012T>C (p.Cys2338Arg) c.4276T>C (p.Cys1426Arg) c.3169T>C (p.Cys1057Arg) n.1830+5636A>G c.7195T>C (p.Cys2399Arg) c.2947T>C (p.Cys983Arg) c.6175T>C (p.Cys2059Arg) | |
8 | g.99776842T>G | CA371875672 | VPS13B | c.7390T>G (p.Cys2464Gly) n.7460T>G c.*3072T>G (n.*3072T>G) c.7315T>G (p.Cys2439Gly) n.378-1840T>G c.7387T>G (p.Cys2463Gly) c.7312T>G (p.Cys2438Gly) c.7012T>G (p.Cys2338Gly) c.4276T>G (p.Cys1426Gly) c.3169T>G (p.Cys1057Gly) n.1830+5636A>C c.7195T>G (p.Cys2399Gly) c.2947T>G (p.Cys983Gly) c.6175T>G (p.Cys2059Gly) | |
8 | g.99776843G>A | CA371875673 | VPS13B | c.7391G>A (p.Cys2464Tyr) n.7461G>A c.*3073G>A (n.*3073G>A) c.7316G>A (p.Cys2439Tyr) n.378-1839G>A c.7388G>A (p.Cys2463Tyr) c.7313G>A (p.Cys2438Tyr) c.7013G>A (p.Cys2338Tyr) c.4277G>A (p.Cys1426Tyr) c.3170G>A (p.Cys1057Tyr) n.1830+5635C>T c.7196G>A (p.Cys2399Tyr) c.2948G>A (p.Cys983Tyr) c.6176G>A (p.Cys2059Tyr) | dbSNP |
8 | g.99776843G>C | CA371875674 | VPS13B | c.7391G>C (p.Cys2464Ser) n.7461G>C c.*3073G>C (n.*3073G>C) c.7316G>C (p.Cys2439Ser) n.378-1839G>C c.7388G>C (p.Cys2463Ser) c.7313G>C (p.Cys2438Ser) c.7013G>C (p.Cys2338Ser) c.4277G>C (p.Cys1426Ser) c.3170G>C (p.Cys1057Ser) n.1830+5635C>G c.7196G>C (p.Cys2399Ser) c.2948G>C (p.Cys983Ser) c.6176G>C (p.Cys2059Ser) | |
8 | g.99776843G>T | CA371875675 | VPS13B | c.7391G>T (p.Cys2464Phe) n.7461G>T c.*3073G>T (n.*3073G>T) c.7316G>T (p.Cys2439Phe) n.378-1839G>T c.7388G>T (p.Cys2463Phe) c.7313G>T (p.Cys2438Phe) c.7013G>T (p.Cys2338Phe) c.4277G>T (p.Cys1426Phe) c.3170G>T (p.Cys1057Phe) n.1830+5635C>A c.7196G>T (p.Cys2399Phe) c.2948G>T (p.Cys983Phe) c.6176G>T (p.Cys2059Phe) | |
8 | g.99776844T>A | CA371875676 | VPS13B | c.7392T>A (p.Cys2464Ter) n.7462T>A c.*3074T>A (n.*3074T>A) c.7317T>A (p.Cys2439Ter) n.378-1838T>A c.7389T>A (p.Cys2463Ter) c.7314T>A (p.Cys2438Ter) c.7014T>A (p.Cys2338Ter) c.4278T>A (p.Cys1426Ter) c.3171T>A (p.Cys1057Ter) n.1830+5634A>T c.7197T>A (p.Cys2399Ter) c.2949T>A (p.Cys983Ter) c.6177T>A (p.Cys2059Ter) | ClinVar |
8 | g.99776844T>C | CA462449181 | VPS13B | c.7392T>C (p.Cys2464=) n.7462T>C c.*3074T>C (n.*3074T>C) c.7317T>C (p.Cys2439=) n.378-1838T>C c.7389T>C (p.Cys2463=) c.7314T>C (p.Cys2438=) c.7014T>C (p.Cys2338=) c.4278T>C (p.Cys1426=) c.3171T>C (p.Cys1057=) n.1830+5634A>G c.7197T>C (p.Cys2399=) c.2949T>C (p.Cys983=) c.6177T>C (p.Cys2059=) | |
8 | g.99776844T>G | CA371875677 | VPS13B | c.7392T>G (p.Cys2464Trp) n.7462T>G c.*3074T>G (n.*3074T>G) c.7317T>G (p.Cys2439Trp) n.378-1838T>G c.7389T>G (p.Cys2463Trp) c.7314T>G (p.Cys2438Trp) c.7014T>G (p.Cys2338Trp) c.4278T>G (p.Cys1426Trp) c.3171T>G (p.Cys1057Trp) n.1830+5634A>C c.7197T>G (p.Cys2399Trp) c.2949T>G (p.Cys983Trp) c.6177T>G (p.Cys2059Trp) | |
8 | g.99776845A>C | CA371875678 | VPS13B | c.7393A>C (p.Thr2465Pro) n.7463A>C c.*3075A>C (n.*3075A>C) c.7318A>C (p.Thr2440Pro) n.378-1837A>C c.7390A>C (p.Thr2464Pro) c.7315A>C (p.Thr2439Pro) c.7015A>C (p.Thr2339Pro) c.4279A>C (p.Thr1427Pro) c.3172A>C (p.Thr1058Pro) n.1830+5633T>G c.7198A>C (p.Thr2400Pro) c.2950A>C (p.Thr984Pro) c.6178A>C (p.Thr2060Pro) | |
8 | g.99776845A>G | CA371875679 | VPS13B | c.7393A>G (p.Thr2465Ala) n.7463A>G c.*3075A>G (n.*3075A>G) c.7318A>G (p.Thr2440Ala) n.378-1837A>G c.7390A>G (p.Thr2464Ala) c.7315A>G (p.Thr2439Ala) c.7015A>G (p.Thr2339Ala) c.4279A>G (p.Thr1427Ala) c.3172A>G (p.Thr1058Ala) n.1830+5633T>C c.7198A>G (p.Thr2400Ala) c.2950A>G (p.Thr984Ala) c.6178A>G (p.Thr2060Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776845A>T | CA371875680 | VPS13B | c.7393A>T (p.Thr2465Ser) n.7463A>T c.*3075A>T (n.*3075A>T) c.7318A>T (p.Thr2440Ser) n.378-1837A>T c.7390A>T (p.Thr2464Ser) c.7315A>T (p.Thr2439Ser) c.7015A>T (p.Thr2339Ser) c.4279A>T (p.Thr1427Ser) c.3172A>T (p.Thr1058Ser) n.1830+5633T>A c.7198A>T (p.Thr2400Ser) c.2950A>T (p.Thr984Ser) c.6178A>T (p.Thr2060Ser) | |
8 | g.99776846C>A | CA371875681 | VPS13B | c.7394C>A (p.Thr2465Asn) n.7464C>A c.*3076C>A (n.*3076C>A) c.7319C>A (p.Thr2440Asn) n.378-1836C>A c.7391C>A (p.Thr2464Asn) c.7316C>A (p.Thr2439Asn) c.7016C>A (p.Thr2339Asn) c.4280C>A (p.Thr1427Asn) c.3173C>A (p.Thr1058Asn) n.1830+5632G>T c.7199C>A (p.Thr2400Asn) c.2951C>A (p.Thr984Asn) c.6179C>A (p.Thr2060Asn) | gnomAD v4 |
8 | g.99776846C>G | CA371875682 | VPS13B | c.7394C>G (p.Thr2465Ser) n.7464C>G c.*3076C>G (n.*3076C>G) c.7319C>G (p.Thr2440Ser) n.378-1836C>G c.7391C>G (p.Thr2464Ser) c.7316C>G (p.Thr2439Ser) c.7016C>G (p.Thr2339Ser) c.4280C>G (p.Thr1427Ser) c.3173C>G (p.Thr1058Ser) n.1830+5632G>C c.7199C>G (p.Thr2400Ser) c.2951C>G (p.Thr984Ser) c.6179C>G (p.Thr2060Ser) | gnomAD v4 |
8 | g.99776846C>T | CA4824192 | VPS13B | c.7394C>T (p.Thr2465Ile) n.7464C>T c.*3076C>T (n.*3076C>T) c.7319C>T (p.Thr2440Ile) n.378-1836C>T c.7391C>T (p.Thr2464Ile) c.7316C>T (p.Thr2439Ile) c.7016C>T (p.Thr2339Ile) c.4280C>T (p.Thr1427Ile) c.3173C>T (p.Thr1058Ile) n.1830+5632G>A c.7199C>T (p.Thr2400Ile) c.2951C>T (p.Thr984Ile) c.6179C>T (p.Thr2060Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776847C>A | CA462449182 | VPS13B | c.7395C>A (p.Thr2465=) n.7465C>A c.*3077C>A (n.*3077C>A) c.7320C>A (p.Thr2440=) n.378-1835C>A c.7392C>A (p.Thr2464=) c.7317C>A (p.Thr2439=) c.7017C>A (p.Thr2339=) c.4281C>A (p.Thr1427=) c.3174C>A (p.Thr1058=) n.1830+5631G>T c.7200C>A (p.Thr2400=) c.2952C>A (p.Thr984=) c.6180C>A (p.Thr2060=) | |
8 | g.99776847C>G | CA462449183 | VPS13B | c.7395C>G (p.Thr2465=) n.7465C>G c.*3077C>G (n.*3077C>G) c.7320C>G (p.Thr2440=) n.378-1835C>G c.7392C>G (p.Thr2464=) c.7317C>G (p.Thr2439=) c.7017C>G (p.Thr2339=) c.4281C>G (p.Thr1427=) c.3174C>G (p.Thr1058=) n.1830+5631G>C c.7200C>G (p.Thr2400=) c.2952C>G (p.Thr984=) c.6180C>G (p.Thr2060=) | |
8 | g.99776847C>T | CA462449184 | VPS13B | c.7395C>T (p.Thr2465=) n.7465C>T c.*3077C>T (n.*3077C>T) c.7320C>T (p.Thr2440=) n.378-1835C>T c.7392C>T (p.Thr2464=) c.7317C>T (p.Thr2439=) c.7017C>T (p.Thr2339=) c.4281C>T (p.Thr1427=) c.3174C>T (p.Thr1058=) n.1830+5631G>A c.7200C>T (p.Thr2400=) c.2952C>T (p.Thr984=) c.6180C>T (p.Thr2060=) | |
8 | g.99776848A>C | CA462449185 | VPS13B | c.7396A>C (p.Arg2466=) n.7466A>C c.*3078A>C (n.*3078A>C) c.7321A>C (p.Arg2441=) n.378-1834A>C c.7393A>C (p.Arg2465=) c.7318A>C (p.Arg2440=) c.7018A>C (p.Arg2340=) c.4282A>C (p.Arg1428=) c.3175A>C (p.Arg1059=) n.1830+5630T>G c.7201A>C (p.Arg2401=) c.2953A>C (p.Arg985=) c.6181A>C (p.Arg2061=) | |
8 | g.99776848A>G | CA371875683 | VPS13B | c.7396A>G (p.Arg2466Gly) n.7466A>G c.*3078A>G (n.*3078A>G) c.7321A>G (p.Arg2441Gly) n.378-1834A>G c.7393A>G (p.Arg2465Gly) c.7318A>G (p.Arg2440Gly) c.7018A>G (p.Arg2340Gly) c.4282A>G (p.Arg1428Gly) c.3175A>G (p.Arg1059Gly) n.1830+5630T>C c.7201A>G (p.Arg2401Gly) c.2953A>G (p.Arg985Gly) c.6181A>G (p.Arg2061Gly) | |
8 | g.99776848A>T | CA371875684 | VPS13B | c.7396A>T (p.Arg2466Ter) n.7466A>T c.*3078A>T (n.*3078A>T) c.7321A>T (p.Arg2441Ter) n.378-1834A>T c.7393A>T (p.Arg2465Ter) c.7318A>T (p.Arg2440Ter) c.7018A>T (p.Arg2340Ter) c.4282A>T (p.Arg1428Ter) c.3175A>T (p.Arg1059Ter) n.1830+5630T>A c.7201A>T (p.Arg2401Ter) c.2953A>T (p.Arg985Ter) c.6181A>T (p.Arg2061Ter) | |
8 | g.99776849G>A | CA371875685 | VPS13B | c.7397G>A (p.Arg2466Lys) n.7467G>A c.*3079G>A (n.*3079G>A) c.7322G>A (p.Arg2441Lys) n.378-1833G>A c.7394G>A (p.Arg2465Lys) c.7319G>A (p.Arg2440Lys) c.7019G>A (p.Arg2340Lys) c.4283G>A (p.Arg1428Lys) c.3176G>A (p.Arg1059Lys) n.1830+5629C>T c.7202G>A (p.Arg2401Lys) c.2954G>A (p.Arg985Lys) c.6182G>A (p.Arg2061Lys) | |
8 | g.99776849G>C | CA371875686 | VPS13B | c.7397G>C (p.Arg2466Thr) n.7467G>C c.*3079G>C (n.*3079G>C) c.7322G>C (p.Arg2441Thr) n.378-1833G>C c.7394G>C (p.Arg2465Thr) c.7319G>C (p.Arg2440Thr) c.7019G>C (p.Arg2340Thr) c.4283G>C (p.Arg1428Thr) c.3176G>C (p.Arg1059Thr) n.1830+5629C>G c.7202G>C (p.Arg2401Thr) c.2954G>C (p.Arg985Thr) c.6182G>C (p.Arg2061Thr) | gnomAD v4 |
8 | g.99776849G>T | CA371875687 | VPS13B | c.7397G>T (p.Arg2466Ile) n.7467G>T c.*3079G>T (n.*3079G>T) c.7322G>T (p.Arg2441Ile) n.378-1833G>T c.7394G>T (p.Arg2465Ile) c.7319G>T (p.Arg2440Ile) c.7019G>T (p.Arg2340Ile) c.4283G>T (p.Arg1428Ile) c.3176G>T (p.Arg1059Ile) n.1830+5629C>A c.7202G>T (p.Arg2401Ile) c.2954G>T (p.Arg985Ile) c.6182G>T (p.Arg2061Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99776850A>C | CA371875688 | VPS13B | c.7398A>C (p.Arg2466Ser) n.7468A>C c.*3080A>C (n.*3080A>C) c.7323A>C (p.Arg2441Ser) n.378-1832A>C c.7395A>C (p.Arg2465Ser) c.7320A>C (p.Arg2440Ser) c.7020A>C (p.Arg2340Ser) c.4284A>C (p.Arg1428Ser) c.3177A>C (p.Arg1059Ser) n.1830+5628T>G c.7203A>C (p.Arg2401Ser) c.2955A>C (p.Arg985Ser) c.6183A>C (p.Arg2061Ser) | |
8 | g.99776850A>G | CA462449186 | VPS13B | c.7398A>G (p.Arg2466=) n.7468A>G c.*3080A>G (n.*3080A>G) c.7323A>G (p.Arg2441=) n.378-1832A>G c.7395A>G (p.Arg2465=) c.7320A>G (p.Arg2440=) c.7020A>G (p.Arg2340=) c.4284A>G (p.Arg1428=) c.3177A>G (p.Arg1059=) n.1830+5628T>C c.7203A>G (p.Arg2401=) c.2955A>G (p.Arg985=) c.6183A>G (p.Arg2061=) | |
8 | g.99776850A>T | CA371875689 | VPS13B | c.7398A>T (p.Arg2466Ser) n.7468A>T c.*3080A>T (n.*3080A>T) c.7323A>T (p.Arg2441Ser) n.378-1832A>T c.7395A>T (p.Arg2465Ser) c.7320A>T (p.Arg2440Ser) c.7020A>T (p.Arg2340Ser) c.4284A>T (p.Arg1428Ser) c.3177A>T (p.Arg1059Ser) n.1830+5628T>A c.7203A>T (p.Arg2401Ser) c.2955A>T (p.Arg985Ser) c.6183A>T (p.Arg2061Ser) | |
8 | g.99776851G>A | CA371875690 | VPS13B | c.7399G>A (p.Val2467Ile) n.7469G>A c.*3081G>A (n.*3081G>A) c.7324G>A (p.Val2442Ile) n.378-1831G>A c.7396G>A (p.Val2466Ile) c.7321G>A (p.Val2441Ile) c.7021G>A (p.Val2341Ile) c.4285G>A (p.Val1429Ile) c.3178G>A (p.Val1060Ile) n.1830+5627C>T c.7204G>A (p.Val2402Ile) c.2956G>A (p.Val986Ile) c.6184G>A (p.Val2062Ile) | gnomAD v4 COSMIC COSMIC |
8 | g.99776851G>C | CA371875691 | VPS13B | c.7399G>C (p.Val2467Leu) n.7469G>C c.*3081G>C (n.*3081G>C) c.7324G>C (p.Val2442Leu) n.378-1831G>C c.7396G>C (p.Val2466Leu) c.7321G>C (p.Val2441Leu) c.7021G>C (p.Val2341Leu) c.4285G>C (p.Val1429Leu) c.3178G>C (p.Val1060Leu) n.1830+5627C>G c.7204G>C (p.Val2402Leu) c.2956G>C (p.Val986Leu) c.6184G>C (p.Val2062Leu) | |
8 | g.99776851G>T | CA371875692 | VPS13B | c.7399G>T (p.Val2467Phe) n.7469G>T c.*3081G>T (n.*3081G>T) c.7324G>T (p.Val2442Phe) n.378-1831G>T c.7396G>T (p.Val2466Phe) c.7321G>T (p.Val2441Phe) c.7021G>T (p.Val2341Phe) c.4285G>T (p.Val1429Phe) c.3178G>T (p.Val1060Phe) n.1830+5627C>A c.7204G>T (p.Val2402Phe) c.2956G>T (p.Val986Phe) c.6184G>T (p.Val2062Phe) | |
8 | g.99776852T>A | CA371875693 | VPS13B | c.7400T>A (p.Val2467Asp) n.7470T>A c.*3082T>A (n.*3082T>A) c.7325T>A (p.Val2442Asp) n.378-1830T>A c.7397T>A (p.Val2466Asp) c.7322T>A (p.Val2441Asp) c.7022T>A (p.Val2341Asp) c.4286T>A (p.Val1429Asp) c.3179T>A (p.Val1060Asp) n.1830+5626A>T c.7205T>A (p.Val2402Asp) c.2957T>A (p.Val986Asp) c.6185T>A (p.Val2062Asp) | gnomAD v4 |
8 | g.99776852T>C | CA371875694 | VPS13B | c.7400T>C (p.Val2467Ala) n.7470T>C c.*3082T>C (n.*3082T>C) c.7325T>C (p.Val2442Ala) n.378-1830T>C c.7397T>C (p.Val2466Ala) c.7322T>C (p.Val2441Ala) c.7022T>C (p.Val2341Ala) c.4286T>C (p.Val1429Ala) c.3179T>C (p.Val1060Ala) n.1830+5626A>G c.7205T>C (p.Val2402Ala) c.2957T>C (p.Val986Ala) c.6185T>C (p.Val2062Ala) | gnomAD v4 |
8 | g.99776852T>G | CA371875695 | VPS13B | c.7400T>G (p.Val2467Gly) n.7470T>G c.*3082T>G (n.*3082T>G) c.7325T>G (p.Val2442Gly) n.378-1830T>G c.7397T>G (p.Val2466Gly) c.7322T>G (p.Val2441Gly) c.7022T>G (p.Val2341Gly) c.4286T>G (p.Val1429Gly) c.3179T>G (p.Val1060Gly) n.1830+5626A>C c.7205T>G (p.Val2402Gly) c.2957T>G (p.Val986Gly) c.6185T>G (p.Val2062Gly) | |
8 | g.99776853T>A | CA462449187 | VPS13B | c.7401T>A (p.Val2467=) n.7471T>A c.*3083T>A (n.*3083T>A) c.7326T>A (p.Val2442=) n.378-1829T>A c.7398T>A (p.Val2466=) c.7323T>A (p.Val2441=) c.7023T>A (p.Val2341=) c.4287T>A (p.Val1429=) c.3180T>A (p.Val1060=) n.1830+5625A>T c.7206T>A (p.Val2402=) c.2958T>A (p.Val986=) c.6186T>A (p.Val2062=) | ClinVar dbSNP gnomAD v4 |
8 | g.99776853T>C | CA462449188 | VPS13B | c.7401T>C (p.Val2467=) n.7471T>C c.*3083T>C (n.*3083T>C) c.7326T>C (p.Val2442=) n.378-1829T>C c.7398T>C (p.Val2466=) c.7323T>C (p.Val2441=) c.7023T>C (p.Val2341=) c.4287T>C (p.Val1429=) c.3180T>C (p.Val1060=) n.1830+5625A>G c.7206T>C (p.Val2402=) c.2958T>C (p.Val986=) c.6186T>C (p.Val2062=) | ClinVar gnomAD v4 |
8 | g.99776853T>G | CA462449189 | VPS13B | c.7401T>G (p.Val2467=) n.7471T>G c.*3083T>G (n.*3083T>G) c.7326T>G (p.Val2442=) n.378-1829T>G c.7398T>G (p.Val2466=) c.7323T>G (p.Val2441=) c.7023T>G (p.Val2341=) c.4287T>G (p.Val1429=) c.3180T>G (p.Val1060=) n.1830+5625A>C c.7206T>G (p.Val2402=) c.2958T>G (p.Val986=) c.6186T>G (p.Val2062=) | gnomAD v4 |
8 | g.99776854G>A | CA371875698 | VPS13B | c.7402G>A (p.Asp2468Asn) n.7472G>A c.*3084G>A (n.*3084G>A) c.7327G>A (p.Asp2443Asn) n.378-1828G>A c.7399G>A (p.Asp2467Asn) c.7324G>A (p.Asp2442Asn) c.7024G>A (p.Asp2342Asn) c.4288G>A (p.Asp1430Asn) c.3181G>A (p.Asp1061Asn) n.1830+5624C>T c.7207G>A (p.Asp2403Asn) c.2959G>A (p.Asp987Asn) c.6187G>A (p.Asp2063Asn) | |
8 | g.99776854G>C | CA371875697 | VPS13B | c.7402G>C (p.Asp2468His) n.7472G>C c.*3084G>C (n.*3084G>C) c.7327G>C (p.Asp2443His) n.378-1828G>C c.7399G>C (p.Asp2467His) c.7324G>C (p.Asp2442His) c.7024G>C (p.Asp2342His) c.4288G>C (p.Asp1430His) c.3181G>C (p.Asp1061His) n.1830+5624C>G c.7207G>C (p.Asp2403His) c.2959G>C (p.Asp987His) c.6187G>C (p.Asp2063His) | |
8 | g.99776854G>T | CA371875696 | VPS13B | c.7402G>T (p.Asp2468Tyr) n.7472G>T c.*3084G>T (n.*3084G>T) c.7327G>T (p.Asp2443Tyr) n.378-1828G>T c.7399G>T (p.Asp2467Tyr) c.7324G>T (p.Asp2442Tyr) c.7024G>T (p.Asp2342Tyr) c.4288G>T (p.Asp1430Tyr) c.3181G>T (p.Asp1061Tyr) n.1830+5624C>A c.7207G>T (p.Asp2403Tyr) c.2959G>T (p.Asp987Tyr) c.6187G>T (p.Asp2063Tyr) | |
8 | g.99776855A>C | CA371875699 | VPS13B | c.7403A>C (p.Asp2468Ala) n.7473A>C c.*3085A>C (n.*3085A>C) c.7328A>C (p.Asp2443Ala) n.378-1827A>C c.7400A>C (p.Asp2467Ala) c.7325A>C (p.Asp2442Ala) c.7025A>C (p.Asp2342Ala) c.4289A>C (p.Asp1430Ala) c.3182A>C (p.Asp1061Ala) n.1830+5623T>G c.7208A>C (p.Asp2403Ala) c.2960A>C (p.Asp987Ala) c.6188A>C (p.Asp2063Ala) | gnomAD v4 |
8 | g.99776855A>G | CA371875700 | VPS13B | c.7403A>G (p.Asp2468Gly) n.7473A>G c.*3085A>G (n.*3085A>G) c.7328A>G (p.Asp2443Gly) n.378-1827A>G c.7400A>G (p.Asp2467Gly) c.7325A>G (p.Asp2442Gly) c.7025A>G (p.Asp2342Gly) c.4289A>G (p.Asp1430Gly) c.3182A>G (p.Asp1061Gly) n.1830+5623T>C c.7208A>G (p.Asp2403Gly) c.2960A>G (p.Asp987Gly) c.6188A>G (p.Asp2063Gly) | gnomAD v4 |
8 | g.99776855A>T | CA371875701 | VPS13B | c.7403A>T (p.Asp2468Val) n.7473A>T c.*3085A>T (n.*3085A>T) c.7328A>T (p.Asp2443Val) n.378-1827A>T c.7400A>T (p.Asp2467Val) c.7325A>T (p.Asp2442Val) c.7025A>T (p.Asp2342Val) c.4289A>T (p.Asp1430Val) c.3182A>T (p.Asp1061Val) n.1830+5623T>A c.7208A>T (p.Asp2403Val) c.2960A>T (p.Asp987Val) c.6188A>T (p.Asp2063Val) | |
8 | g.99776855_99776856insTTCTGGACAAGTTGGTGTGGAGCGAAATTT | CA2556541256 | VPS13B | c.7403_7404insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2468_Ser2469insSerGlyGlnValGlyValGluArgAsnPhe) n.7473_7474insTTCTGGACAAGTTGGTGTGGAGCGAAATTT c.*3085_*3086insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (n.*3085_*3086insTTCTGGACAAGTTGGTGTGGAGCGAAATTT) c.7328_7329insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2443_Ser2444insSerGlyGlnValGlyValGluArgAsnPhe) n.378-1827_378-1826insTTCTGGACAAGTTGGTGTGGAGCGAAATTT c.7400_7401insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2467_Ser2468insSerGlyGlnValGlyValGluArgAsnPhe) c.7325_7326insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2442_Ser2443insSerGlyGlnValGlyValGluArgAsnPhe) c.7025_7026insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2342_Ser2343insSerGlyGlnValGlyValGluArgAsnPhe) c.4289_4290insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp1430_Ser1431insSerGlyGlnValGlyValGluArgAsnPhe) c.3182_3183insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp1061_Ser1062insSerGlyGlnValGlyValGluArgAsnPhe) n.1830+5622_1830+5623insAAATTTCGCTCCACACCAACTTGTCCAGAA c.7208_7209insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2403_Ser2404insSerGlyGlnValGlyValGluArgAsnPhe) c.2960_2961insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp987_Ser988insSerGlyGlnValGlyValGluArgAsnPhe) c.6188_6189insTTCTGGACAAGTTGGTGTGGAGCGAAATTT (p.Asp2063_Ser2064insSerGlyGlnValGlyValGluArgAsnPhe) | |
8 | g.99776856C>A | CA371875702 | VPS13B | c.7404C>A (p.Asp2468Glu) n.7474C>A c.*3086C>A (n.*3086C>A) c.7329C>A (p.Asp2443Glu) n.378-1826C>A c.7401C>A (p.Asp2467Glu) c.7326C>A (p.Asp2442Glu) c.7026C>A (p.Asp2342Glu) c.4290C>A (p.Asp1430Glu) c.3183C>A (p.Asp1061Glu) n.1830+5622G>T c.7209C>A (p.Asp2403Glu) c.2961C>A (p.Asp987Glu) c.6189C>A (p.Asp2063Glu) | |
8 | g.99776856C>G | CA371875703 | VPS13B | c.7404C>G (p.Asp2468Glu) n.7474C>G c.*3086C>G (n.*3086C>G) c.7329C>G (p.Asp2443Glu) n.378-1826C>G c.7401C>G (p.Asp2467Glu) c.7326C>G (p.Asp2442Glu) c.7026C>G (p.Asp2342Glu) c.4290C>G (p.Asp1430Glu) c.3183C>G (p.Asp1061Glu) n.1830+5622G>C c.7209C>G (p.Asp2403Glu) c.2961C>G (p.Asp987Glu) c.6189C>G (p.Asp2063Glu) | |
8 | g.99776856C>T | CA462449190 | VPS13B | c.7404C>T (p.Asp2468=) n.7474C>T c.*3086C>T (n.*3086C>T) c.7329C>T (p.Asp2443=) n.378-1826C>T c.7401C>T (p.Asp2467=) c.7326C>T (p.Asp2442=) c.7026C>T (p.Asp2342=) c.4290C>T (p.Asp1430=) c.3183C>T (p.Asp1061=) n.1830+5622G>A c.7209C>T (p.Asp2403=) c.2961C>T (p.Asp987=) c.6189C>T (p.Asp2063=) | ClinVar dbSNP |
8 | g.99776857T>A | CA371875704 | VPS13B | c.7405T>A (p.Ser2469Thr) n.7475T>A c.*3087T>A (n.*3087T>A) c.7330T>A (p.Ser2444Thr) n.378-1825T>A c.7402T>A (p.Ser2468Thr) c.7327T>A (p.Ser2443Thr) c.7027T>A (p.Ser2343Thr) c.4291T>A (p.Ser1431Thr) c.3184T>A (p.Ser1062Thr) n.1830+5621A>T c.7210T>A (p.Ser2404Thr) c.2962T>A (p.Ser988Thr) c.6190T>A (p.Ser2064Thr) | ClinVar dbSNP |
8 | g.99776857T>C | CA4824193 | VPS13B | c.7405T>C (p.Ser2469Pro) n.7475T>C c.*3087T>C (n.*3087T>C) c.7330T>C (p.Ser2444Pro) n.378-1825T>C c.7402T>C (p.Ser2468Pro) c.7327T>C (p.Ser2443Pro) c.7027T>C (p.Ser2343Pro) c.4291T>C (p.Ser1431Pro) c.3184T>C (p.Ser1062Pro) n.1830+5621A>G c.7210T>C (p.Ser2404Pro) c.2962T>C (p.Ser988Pro) c.6190T>C (p.Ser2064Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776857T>G | CA371875705 | VPS13B | c.7405T>G (p.Ser2469Ala) n.7475T>G c.*3087T>G (n.*3087T>G) c.7330T>G (p.Ser2444Ala) n.378-1825T>G c.7402T>G (p.Ser2468Ala) c.7327T>G (p.Ser2443Ala) c.7027T>G (p.Ser2343Ala) c.4291T>G (p.Ser1431Ala) c.3184T>G (p.Ser1062Ala) n.1830+5621A>C c.7210T>G (p.Ser2404Ala) c.2962T>G (p.Ser988Ala) c.6190T>G (p.Ser2064Ala) | |
8 | g.99776858C>A | CA371875706 | VPS13B | c.7406C>A (p.Ser2469Tyr) n.7476C>A c.*3088C>A (n.*3088C>A) c.7331C>A (p.Ser2444Tyr) n.378-1824C>A c.7403C>A (p.Ser2468Tyr) c.7328C>A (p.Ser2443Tyr) c.7028C>A (p.Ser2343Tyr) c.4292C>A (p.Ser1431Tyr) c.3185C>A (p.Ser1062Tyr) n.1830+5620G>T c.7211C>A (p.Ser2404Tyr) c.2963C>A (p.Ser988Tyr) c.6191C>A (p.Ser2064Tyr) | |
8 | g.99776858C>G | CA371875707 | VPS13B | c.7406C>G (p.Ser2469Cys) n.7476C>G c.*3088C>G (n.*3088C>G) c.7331C>G (p.Ser2444Cys) n.378-1824C>G c.7403C>G (p.Ser2468Cys) c.7328C>G (p.Ser2443Cys) c.7028C>G (p.Ser2343Cys) c.4292C>G (p.Ser1431Cys) c.3185C>G (p.Ser1062Cys) n.1830+5620G>C c.7211C>G (p.Ser2404Cys) c.2963C>G (p.Ser988Cys) c.6191C>G (p.Ser2064Cys) | |
8 | g.99776858C>T | CA371875708 | VPS13B | c.7406C>T (p.Ser2469Phe) n.7476C>T c.*3088C>T (n.*3088C>T) c.7331C>T (p.Ser2444Phe) n.378-1824C>T c.7403C>T (p.Ser2468Phe) c.7328C>T (p.Ser2443Phe) c.7028C>T (p.Ser2343Phe) c.4292C>T (p.Ser1431Phe) c.3185C>T (p.Ser1062Phe) n.1830+5620G>A c.7211C>T (p.Ser2404Phe) c.2963C>T (p.Ser988Phe) c.6191C>T (p.Ser2064Phe) | |
8 | g.99776859C>A | CA462449193 | VPS13B | c.7407C>A (p.Ser2469=) n.7477C>A c.*3089C>A (n.*3089C>A) c.7332C>A (p.Ser2444=) n.378-1823C>A c.7404C>A (p.Ser2468=) c.7329C>A (p.Ser2443=) c.7029C>A (p.Ser2343=) c.4293C>A (p.Ser1431=) c.3186C>A (p.Ser1062=) n.1830+5619G>T c.7212C>A (p.Ser2404=) c.2964C>A (p.Ser988=) c.6192C>A (p.Ser2064=) | |
8 | g.99776859C>G | CA462449192 | VPS13B | c.7407C>G (p.Ser2469=) n.7477C>G c.*3089C>G (n.*3089C>G) c.7332C>G (p.Ser2444=) n.378-1823C>G c.7404C>G (p.Ser2468=) c.7329C>G (p.Ser2443=) c.7029C>G (p.Ser2343=) c.4293C>G (p.Ser1431=) c.3186C>G (p.Ser1062=) n.1830+5619G>C c.7212C>G (p.Ser2404=) c.2964C>G (p.Ser988=) c.6192C>G (p.Ser2064=) | |
8 | g.99776859C>T | CA462449191 | VPS13B | c.7407C>T (p.Ser2469=) n.7477C>T c.*3089C>T (n.*3089C>T) c.7332C>T (p.Ser2444=) n.378-1823C>T c.7404C>T (p.Ser2468=) c.7329C>T (p.Ser2443=) c.7029C>T (p.Ser2343=) c.4293C>T (p.Ser1431=) c.3186C>T (p.Ser1062=) n.1830+5619G>A c.7212C>T (p.Ser2404=) c.2964C>T (p.Ser988=) c.6192C>T (p.Ser2064=) | |
8 | g.99776859_99776860insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC | CA2550671528 | VPS13B | c.7407_7408insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2470GlyfsTer59) n.7477_7478insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC c.*3089_*3090insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (n.*3089_*3090insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC) c.7332_7333insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2445GlyfsTer59) n.378-1823_378-1822insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC c.7404_7405insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2469GlyfsTer59) c.7329_7330insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2444GlyfsTer59) c.7029_7030insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2344GlyfsTer59) c.4293_4294insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys1432GlyfsTer59) c.3186_3187insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys1063GlyfsTer59) n.1830+5619_1830+5620insTTTGACCGGAATTTCACGCACTGAGAATGCGTAAATTGTAGAGGTAAACGAGCTATGCCAACCGACATTCAGTGGTTCTTTTTGAAACTCACCG c.7212_7213insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2405GlyfsTer59) c.2964_2965insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys989GlyfsTer59) c.6192_6193insGGTGAGTTTCAAAAAGAACCACTGAATGTCGGTTGGCATAGCTCGTTTACCTCTACAATTTACGCATTCTCAGTGCGTGAAATTCCGGTCAAAC (p.Cys2065GlyfsTer59) | |
8 | g.99776860T>A | CA371875709 | VPS13B | c.7408T>A (p.Cys2470Ser) n.7478T>A c.*3090T>A (n.*3090T>A) c.7333T>A (p.Cys2445Ser) n.378-1822T>A c.7405T>A (p.Cys2469Ser) c.7330T>A (p.Cys2444Ser) c.7030T>A (p.Cys2344Ser) c.4294T>A (p.Cys1432Ser) c.3187T>A (p.Cys1063Ser) n.1830+5618A>T c.7213T>A (p.Cys2405Ser) c.2965T>A (p.Cys989Ser) c.6193T>A (p.Cys2065Ser) | |
8 | g.99776860T>C | CA371875710 | VPS13B | c.7408T>C (p.Cys2470Arg) n.7478T>C c.*3090T>C (n.*3090T>C) c.7333T>C (p.Cys2445Arg) n.378-1822T>C c.7405T>C (p.Cys2469Arg) c.7330T>C (p.Cys2444Arg) c.7030T>C (p.Cys2344Arg) c.4294T>C (p.Cys1432Arg) c.3187T>C (p.Cys1063Arg) n.1830+5618A>G c.7213T>C (p.Cys2405Arg) c.2965T>C (p.Cys989Arg) c.6193T>C (p.Cys2065Arg) | |
8 | g.99776860T>G | CA371875711 | VPS13B | c.7408T>G (p.Cys2470Gly) n.7478T>G c.*3090T>G (n.*3090T>G) c.7333T>G (p.Cys2445Gly) n.378-1822T>G c.7405T>G (p.Cys2469Gly) c.7330T>G (p.Cys2444Gly) c.7030T>G (p.Cys2344Gly) c.4294T>G (p.Cys1432Gly) c.3187T>G (p.Cys1063Gly) n.1830+5618A>C c.7213T>G (p.Cys2405Gly) c.2965T>G (p.Cys989Gly) c.6193T>G (p.Cys2065Gly) | |
8 | g.99776861G>A | CA371875713 | VPS13B | c.7409G>A (p.Cys2470Tyr) n.7479G>A c.*3091G>A (n.*3091G>A) c.7334G>A (p.Cys2445Tyr) n.378-1821G>A c.7406G>A (p.Cys2469Tyr) c.7331G>A (p.Cys2444Tyr) c.7031G>A (p.Cys2344Tyr) c.4295G>A (p.Cys1432Tyr) c.3188G>A (p.Cys1063Tyr) n.1830+5617C>T c.7214G>A (p.Cys2405Tyr) c.2966G>A (p.Cys989Tyr) c.6194G>A (p.Cys2065Tyr) | |
8 | g.99776861G>C | CA183041725 | VPS13B | c.7409G>C (p.Cys2470Ser) n.7479G>C c.*3091G>C (n.*3091G>C) c.7334G>C (p.Cys2445Ser) n.378-1821G>C c.7406G>C (p.Cys2469Ser) c.7331G>C (p.Cys2444Ser) c.7031G>C (p.Cys2344Ser) c.4295G>C (p.Cys1432Ser) c.3188G>C (p.Cys1063Ser) n.1830+5617C>G c.7214G>C (p.Cys2405Ser) c.2966G>C (p.Cys989Ser) c.6194G>C (p.Cys2065Ser) | ClinVar dbSNP gnomAD v4 |
8 | g.99776861G>T | CA371875712 | VPS13B | c.7409G>T (p.Cys2470Phe) n.7479G>T c.*3091G>T (n.*3091G>T) c.7334G>T (p.Cys2445Phe) n.378-1821G>T c.7406G>T (p.Cys2469Phe) c.7331G>T (p.Cys2444Phe) c.7031G>T (p.Cys2344Phe) c.4295G>T (p.Cys1432Phe) c.3188G>T (p.Cys1063Phe) n.1830+5617C>A c.7214G>T (p.Cys2405Phe) c.2966G>T (p.Cys989Phe) c.6194G>T (p.Cys2065Phe) | |
8 | g.99776862C>A | CA371875714 | VPS13B | c.7410C>A (p.Cys2470Ter) n.7480C>A c.*3092C>A (n.*3092C>A) c.7335C>A (p.Cys2445Ter) n.378-1820C>A c.7407C>A (p.Cys2469Ter) c.7332C>A (p.Cys2444Ter) c.7032C>A (p.Cys2344Ter) c.4296C>A (p.Cys1432Ter) c.3189C>A (p.Cys1063Ter) n.1830+5616G>T c.7215C>A (p.Cys2405Ter) c.2967C>A (p.Cys989Ter) c.6195C>A (p.Cys2065Ter) | |
8 | g.99776862C>G | CA371875715 | VPS13B | c.7410C>G (p.Cys2470Trp) n.7480C>G c.*3092C>G (n.*3092C>G) c.7335C>G (p.Cys2445Trp) n.378-1820C>G c.7407C>G (p.Cys2469Trp) c.7332C>G (p.Cys2444Trp) c.7032C>G (p.Cys2344Trp) c.4296C>G (p.Cys1432Trp) c.3189C>G (p.Cys1063Trp) n.1830+5616G>C c.7215C>G (p.Cys2405Trp) c.2967C>G (p.Cys989Trp) c.6195C>G (p.Cys2065Trp) | |
8 | g.99776862C>T | CA462449194 | VPS13B | c.7410C>T (p.Cys2470=) n.7480C>T c.*3092C>T (n.*3092C>T) c.7335C>T (p.Cys2445=) n.378-1820C>T c.7407C>T (p.Cys2469=) c.7332C>T (p.Cys2444=) c.7032C>T (p.Cys2344=) c.4296C>T (p.Cys1432=) c.3189C>T (p.Cys1063=) n.1830+5616G>A c.7215C>T (p.Cys2405=) c.2967C>T (p.Cys989=) c.6195C>T (p.Cys2065=) | |
8 | g.99776863T>A | CA371875716 | VPS13B | c.7411T>A (p.Phe2471Ile) n.7481T>A c.*3093T>A (n.*3093T>A) c.7336T>A (p.Phe2446Ile) n.378-1819T>A c.7408T>A (p.Phe2470Ile) c.7333T>A (p.Phe2445Ile) c.7033T>A (p.Phe2345Ile) c.4297T>A (p.Phe1433Ile) c.3190T>A (p.Phe1064Ile) n.1830+5615A>T c.7216T>A (p.Phe2406Ile) c.2968T>A (p.Phe990Ile) c.6196T>A (p.Phe2066Ile) | |
8 | g.99776863T>C | CA371875717 | VPS13B | c.7411T>C (p.Phe2471Leu) n.7481T>C c.*3093T>C (n.*3093T>C) c.7336T>C (p.Phe2446Leu) n.378-1819T>C c.7408T>C (p.Phe2470Leu) c.7333T>C (p.Phe2445Leu) c.7033T>C (p.Phe2345Leu) c.4297T>C (p.Phe1433Leu) c.3190T>C (p.Phe1064Leu) n.1830+5615A>G c.7216T>C (p.Phe2406Leu) c.2968T>C (p.Phe990Leu) c.6196T>C (p.Phe2066Leu) | |
8 | g.99776863T>G | CA371875718 | VPS13B | c.7411T>G (p.Phe2471Val) n.7481T>G c.*3093T>G (n.*3093T>G) c.7336T>G (p.Phe2446Val) n.378-1819T>G c.7408T>G (p.Phe2470Val) c.7333T>G (p.Phe2445Val) c.7033T>G (p.Phe2345Val) c.4297T>G (p.Phe1433Val) c.3190T>G (p.Phe1064Val) n.1830+5615A>C c.7216T>G (p.Phe2406Val) c.2968T>G (p.Phe990Val) c.6196T>G (p.Phe2066Val) | |
8 | g.99776864T>A | CA371875721 | VPS13B | c.7412T>A (p.Phe2471Tyr) n.7482T>A c.*3094T>A (n.*3094T>A) c.7337T>A (p.Phe2446Tyr) n.378-1818T>A c.7409T>A (p.Phe2470Tyr) c.7334T>A (p.Phe2445Tyr) c.7034T>A (p.Phe2345Tyr) c.4298T>A (p.Phe1433Tyr) c.3191T>A (p.Phe1064Tyr) n.1830+5614A>T c.7217T>A (p.Phe2406Tyr) c.2969T>A (p.Phe990Tyr) c.6197T>A (p.Phe2066Tyr) | |
8 | g.99776864T>C | CA371875720 | VPS13B | c.7412T>C (p.Phe2471Ser) n.7482T>C c.*3094T>C (n.*3094T>C) c.7337T>C (p.Phe2446Ser) n.378-1818T>C c.7409T>C (p.Phe2470Ser) c.7334T>C (p.Phe2445Ser) c.7034T>C (p.Phe2345Ser) c.4298T>C (p.Phe1433Ser) c.3191T>C (p.Phe1064Ser) n.1830+5614A>G c.7217T>C (p.Phe2406Ser) c.2969T>C (p.Phe990Ser) c.6197T>C (p.Phe2066Ser) | |
8 | g.99776864T>G | CA371875719 | VPS13B | c.7412T>G (p.Phe2471Cys) n.7482T>G c.*3094T>G (n.*3094T>G) c.7337T>G (p.Phe2446Cys) n.378-1818T>G c.7409T>G (p.Phe2470Cys) c.7334T>G (p.Phe2445Cys) c.7034T>G (p.Phe2345Cys) c.4298T>G (p.Phe1433Cys) c.3191T>G (p.Phe1064Cys) n.1830+5614A>C c.7217T>G (p.Phe2406Cys) c.2969T>G (p.Phe990Cys) c.6197T>G (p.Phe2066Cys) | |
8 | g.99776865T>A | CA371875722 | VPS13B | c.7413T>A (p.Phe2471Leu) n.7483T>A c.*3095T>A (n.*3095T>A) c.7338T>A (p.Phe2446Leu) n.378-1817T>A c.7410T>A (p.Phe2470Leu) c.7335T>A (p.Phe2445Leu) c.7035T>A (p.Phe2345Leu) c.4299T>A (p.Phe1433Leu) c.3192T>A (p.Phe1064Leu) n.1830+5613A>T c.7218T>A (p.Phe2406Leu) c.2970T>A (p.Phe990Leu) c.6198T>A (p.Phe2066Leu) | |
8 | g.99776865T>C | CA202890 | VPS13B | c.7413T>C (p.Phe2471=) n.7483T>C c.*3095T>C (n.*3095T>C) c.7338T>C (p.Phe2446=) n.378-1817T>C c.7410T>C (p.Phe2470=) c.7335T>C (p.Phe2445=) c.7035T>C (p.Phe2345=) c.4299T>C (p.Phe1433=) c.3192T>C (p.Phe1064=) n.1830+5613A>G c.7218T>C (p.Phe2406=) c.2970T>C (p.Phe990=) c.6198T>C (p.Phe2066=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776865T>G | CA371875723 | VPS13B | c.7413T>G (p.Phe2471Leu) n.7483T>G c.*3095T>G (n.*3095T>G) c.7338T>G (p.Phe2446Leu) n.378-1817T>G c.7410T>G (p.Phe2470Leu) c.7335T>G (p.Phe2445Leu) c.7035T>G (p.Phe2345Leu) c.4299T>G (p.Phe1433Leu) c.3192T>G (p.Phe1064Leu) n.1830+5613A>C c.7218T>G (p.Phe2406Leu) c.2970T>G (p.Phe990Leu) c.6198T>G (p.Phe2066Leu) | |
8 | g.99776866A>C | CA371875724 | VPS13B | c.7414A>C (p.Thr2472Pro) n.7484A>C c.*3096A>C (n.*3096A>C) c.7339A>C (p.Thr2447Pro) n.378-1816A>C c.7411A>C (p.Thr2471Pro) c.7336A>C (p.Thr2446Pro) c.7036A>C (p.Thr2346Pro) c.4300A>C (p.Thr1434Pro) c.3193A>C (p.Thr1065Pro) n.1830+5612T>G c.7219A>C (p.Thr2407Pro) c.2971A>C (p.Thr991Pro) c.6199A>C (p.Thr2067Pro) | |
8 | g.99776866A>G | CA371875725 | VPS13B | c.7414A>G (p.Thr2472Ala) n.7484A>G c.*3096A>G (n.*3096A>G) c.7339A>G (p.Thr2447Ala) n.378-1816A>G c.7411A>G (p.Thr2471Ala) c.7336A>G (p.Thr2446Ala) c.7036A>G (p.Thr2346Ala) c.4300A>G (p.Thr1434Ala) c.3193A>G (p.Thr1065Ala) n.1830+5612T>C c.7219A>G (p.Thr2407Ala) c.2971A>G (p.Thr991Ala) c.6199A>G (p.Thr2067Ala) | |
8 | g.99776866A>T | CA371875726 | VPS13B | c.7414A>T (p.Thr2472Ser) n.7484A>T c.*3096A>T (n.*3096A>T) c.7339A>T (p.Thr2447Ser) n.378-1816A>T c.7411A>T (p.Thr2471Ser) c.7336A>T (p.Thr2446Ser) c.7036A>T (p.Thr2346Ser) c.4300A>T (p.Thr1434Ser) c.3193A>T (p.Thr1065Ser) n.1830+5612T>A c.7219A>T (p.Thr2407Ser) c.2971A>T (p.Thr991Ser) c.6199A>T (p.Thr2067Ser) | |
8 | g.99776867C>A | CA4824194 | VPS13B | c.7415C>A (p.Thr2472Asn) n.7485C>A c.*3097C>A (n.*3097C>A) c.7340C>A (p.Thr2447Asn) n.378-1815C>A c.7412C>A (p.Thr2471Asn) c.7337C>A (p.Thr2446Asn) c.7037C>A (p.Thr2346Asn) c.4301C>A (p.Thr1434Asn) c.3194C>A (p.Thr1065Asn) n.1830+5611G>T c.7220C>A (p.Thr2407Asn) c.2972C>A (p.Thr991Asn) c.6200C>A (p.Thr2067Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776867C>G | CA371875728 | VPS13B | c.7415C>G (p.Thr2472Ser) n.7485C>G c.*3097C>G (n.*3097C>G) c.7340C>G (p.Thr2447Ser) n.378-1815C>G c.7412C>G (p.Thr2471Ser) c.7337C>G (p.Thr2446Ser) c.7037C>G (p.Thr2346Ser) c.4301C>G (p.Thr1434Ser) c.3194C>G (p.Thr1065Ser) n.1830+5611G>C c.7220C>G (p.Thr2407Ser) c.2972C>G (p.Thr991Ser) c.6200C>G (p.Thr2067Ser) | |
8 | g.99776867C>T | CA371875727 | VPS13B | c.7415C>T (p.Thr2472Ile) n.7485C>T c.*3097C>T (n.*3097C>T) c.7340C>T (p.Thr2447Ile) n.378-1815C>T c.7412C>T (p.Thr2471Ile) c.7337C>T (p.Thr2446Ile) c.7037C>T (p.Thr2346Ile) c.4301C>T (p.Thr1434Ile) c.3194C>T (p.Thr1065Ile) n.1830+5611G>A c.7220C>T (p.Thr2407Ile) c.2972C>T (p.Thr991Ile) c.6200C>T (p.Thr2067Ile) | |
8 | g.99776868C>A | CA462449195 | VPS13B | c.7416C>A (p.Thr2472=) n.7486C>A c.*3098C>A (n.*3098C>A) c.7341C>A (p.Thr2447=) n.378-1814C>A c.7413C>A (p.Thr2471=) c.7338C>A (p.Thr2446=) c.7038C>A (p.Thr2346=) c.4302C>A (p.Thr1434=) c.3195C>A (p.Thr1065=) n.1830+5610G>T c.7221C>A (p.Thr2407=) c.2973C>A (p.Thr991=) c.6201C>A (p.Thr2067=) | |
8 | g.99776868C>G | CA462449196 | VPS13B | c.7416C>G (p.Thr2472=) n.7486C>G c.*3098C>G (n.*3098C>G) c.7341C>G (p.Thr2447=) n.378-1814C>G c.7413C>G (p.Thr2471=) c.7338C>G (p.Thr2446=) c.7038C>G (p.Thr2346=) c.4302C>G (p.Thr1434=) c.3195C>G (p.Thr1065=) n.1830+5610G>C c.7221C>G (p.Thr2407=) c.2973C>G (p.Thr991=) c.6201C>G (p.Thr2067=) | |
8 | g.99776868C>T | CA462449197 | VPS13B | c.7416C>T (p.Thr2472=) n.7486C>T c.*3098C>T (n.*3098C>T) c.7341C>T (p.Thr2447=) n.378-1814C>T c.7413C>T (p.Thr2471=) c.7338C>T (p.Thr2446=) c.7038C>T (p.Thr2346=) c.4302C>T (p.Thr1434=) c.3195C>T (p.Thr1065=) n.1830+5610G>A c.7221C>T (p.Thr2407=) c.2973C>T (p.Thr991=) c.6201C>T (p.Thr2067=) | gnomAD v4 COSMIC COSMIC |
8 | g.99776869C>A | CA371875729 | VPS13B | c.7417C>A (p.Pro2473Thr) n.7487C>A c.*3099C>A (n.*3099C>A) c.7342C>A (p.Pro2448Thr) n.378-1813C>A c.7414C>A (p.Pro2472Thr) c.7339C>A (p.Pro2447Thr) c.7039C>A (p.Pro2347Thr) c.4303C>A (p.Pro1435Thr) c.3196C>A (p.Pro1066Thr) n.1830+5609G>T c.7222C>A (p.Pro2408Thr) c.2974C>A (p.Pro992Thr) c.6202C>A (p.Pro2068Thr) | |
8 | g.99776869C>G | CA371875730 | VPS13B | c.7417C>G (p.Pro2473Ala) n.7487C>G c.*3099C>G (n.*3099C>G) c.7342C>G (p.Pro2448Ala) n.378-1813C>G c.7414C>G (p.Pro2472Ala) c.7339C>G (p.Pro2447Ala) c.7039C>G (p.Pro2347Ala) c.4303C>G (p.Pro1435Ala) c.3196C>G (p.Pro1066Ala) n.1830+5609G>C c.7222C>G (p.Pro2408Ala) c.2974C>G (p.Pro992Ala) c.6202C>G (p.Pro2068Ala) | |
8 | g.99776869C>T | CA371875731 | VPS13B | c.7417C>T (p.Pro2473Ser) n.7487C>T c.*3099C>T (n.*3099C>T) c.7342C>T (p.Pro2448Ser) n.378-1813C>T c.7414C>T (p.Pro2472Ser) c.7339C>T (p.Pro2447Ser) c.7039C>T (p.Pro2347Ser) c.4303C>T (p.Pro1435Ser) c.3196C>T (p.Pro1066Ser) n.1830+5609G>A c.7222C>T (p.Pro2408Ser) c.2974C>T (p.Pro992Ser) c.6202C>T (p.Pro2068Ser) | dbSNP COSMIC COSMIC |
8 | g.99776870C>A | CA371875732 | VPS13B | c.7418C>A (p.Pro2473Gln) n.7488C>A c.*3100C>A (n.*3100C>A) c.7343C>A (p.Pro2448Gln) n.378-1812C>A c.7415C>A (p.Pro2472Gln) c.7340C>A (p.Pro2447Gln) c.7040C>A (p.Pro2347Gln) c.4304C>A (p.Pro1435Gln) c.3197C>A (p.Pro1066Gln) n.1830+5608G>T c.7223C>A (p.Pro2408Gln) c.2975C>A (p.Pro992Gln) c.6203C>A (p.Pro2068Gln) | |
8 | g.99776870C>G | CA371875733 | VPS13B | c.7418C>G (p.Pro2473Arg) n.7488C>G c.*3100C>G (n.*3100C>G) c.7343C>G (p.Pro2448Arg) n.378-1812C>G c.7415C>G (p.Pro2472Arg) c.7340C>G (p.Pro2447Arg) c.7040C>G (p.Pro2347Arg) c.4304C>G (p.Pro1435Arg) c.3197C>G (p.Pro1066Arg) n.1830+5608G>C c.7223C>G (p.Pro2408Arg) c.2975C>G (p.Pro992Arg) c.6203C>G (p.Pro2068Arg) | |
8 | g.99776870C>T | CA371875734 | VPS13B | c.7418C>T (p.Pro2473Leu) n.7488C>T c.*3100C>T (n.*3100C>T) c.7343C>T (p.Pro2448Leu) n.378-1812C>T c.7415C>T (p.Pro2472Leu) c.7340C>T (p.Pro2447Leu) c.7040C>T (p.Pro2347Leu) c.4304C>T (p.Pro1435Leu) c.3197C>T (p.Pro1066Leu) n.1830+5608G>A c.7223C>T (p.Pro2408Leu) c.2975C>T (p.Pro992Leu) c.6203C>T (p.Pro2068Leu) | dbSNP COSMIC COSMIC |
8 | g.99776871A>C | CA462449198 | VPS13B | c.7419A>C (p.Pro2473=) n.7489A>C c.*3101A>C (n.*3101A>C) c.7344A>C (p.Pro2448=) n.378-1811A>C c.7416A>C (p.Pro2472=) c.7341A>C (p.Pro2447=) c.7041A>C (p.Pro2347=) c.4305A>C (p.Pro1435=) c.3198A>C (p.Pro1066=) n.1830+5607T>G c.7224A>C (p.Pro2408=) c.2976A>C (p.Pro992=) c.6204A>C (p.Pro2068=) | |
8 | g.99776871A>G | CA4824195 | VPS13B | c.7419A>G (p.Pro2473=) n.7489A>G c.*3101A>G (n.*3101A>G) c.7344A>G (p.Pro2448=) n.378-1811A>G c.7416A>G (p.Pro2472=) c.7341A>G (p.Pro2447=) c.7041A>G (p.Pro2347=) c.4305A>G (p.Pro1435=) c.3198A>G (p.Pro1066=) n.1830+5607T>C c.7224A>G (p.Pro2408=) c.2976A>G (p.Pro992=) c.6204A>G (p.Pro2068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99776871A>T | CA462449199 | VPS13B | c.7419A>T (p.Pro2473=) n.7489A>T c.*3101A>T (n.*3101A>T) c.7344A>T (p.Pro2448=) n.378-1811A>T c.7416A>T (p.Pro2472=) c.7341A>T (p.Pro2447=) c.7041A>T (p.Pro2347=) c.4305A>T (p.Pro1435=) c.3198A>T (p.Pro1066=) n.1830+5607T>A c.7224A>T (p.Pro2408=) c.2976A>T (p.Pro992=) c.6204A>T (p.Pro2068=) | ClinVar |
8 | g.99776872T>A | CA371875735 | VPS13B | c.7420T>A (p.Trp2474Arg) n.7490T>A c.*3102T>A (n.*3102T>A) c.7345T>A (p.Trp2449Arg) n.378-1810T>A c.7417T>A (p.Trp2473Arg) c.7342T>A (p.Trp2448Arg) c.7042T>A (p.Trp2348Arg) c.4306T>A (p.Trp1436Arg) c.3199T>A (p.Trp1067Arg) n.1830+5606A>T c.7225T>A (p.Trp2409Arg) c.2977T>A (p.Trp993Arg) c.6205T>A (p.Trp2069Arg) | |
8 | g.99776872T>C | CA183041732 | VPS13B | c.7420T>C (p.Trp2474Arg) n.7490T>C c.*3102T>C (n.*3102T>C) c.7345T>C (p.Trp2449Arg) n.378-1810T>C c.7417T>C (p.Trp2473Arg) c.7342T>C (p.Trp2448Arg) c.7042T>C (p.Trp2348Arg) c.4306T>C (p.Trp1436Arg) c.3199T>C (p.Trp1067Arg) n.1830+5606A>G c.7225T>C (p.Trp2409Arg) c.2977T>C (p.Trp993Arg) c.6205T>C (p.Trp2069Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99776872T>G | CA371875736 | VPS13B | c.7420T>G (p.Trp2474Gly) n.7490T>G c.*3102T>G (n.*3102T>G) c.7345T>G (p.Trp2449Gly) n.378-1810T>G c.7417T>G (p.Trp2473Gly) c.7342T>G (p.Trp2448Gly) c.7042T>G (p.Trp2348Gly) c.4306T>G (p.Trp1436Gly) c.3199T>G (p.Trp1067Gly) n.1830+5606A>C c.7225T>G (p.Trp2409Gly) c.2977T>G (p.Trp993Gly) c.6205T>G (p.Trp2069Gly) | |
8 | g.99776873G>A | CA371875739 | VPS13B | c.7421G>A (p.Trp2474Ter) n.7491G>A c.*3103G>A (n.*3103G>A) c.7346G>A (p.Trp2449Ter) n.378-1809G>A c.7418G>A (p.Trp2473Ter) c.7343G>A (p.Trp2448Ter) c.7043G>A (p.Trp2348Ter) c.4307G>A (p.Trp1436Ter) c.3200G>A (p.Trp1067Ter) n.1830+5605C>T c.7226G>A (p.Trp2409Ter) c.2978G>A (p.Trp993Ter) c.6206G>A (p.Trp2069Ter) | |
8 | g.99776873G>C | CA371875738 | VPS13B | c.7421G>C (p.Trp2474Ser) n.7491G>C c.*3103G>C (n.*3103G>C) c.7346G>C (p.Trp2449Ser) n.378-1809G>C c.7418G>C (p.Trp2473Ser) c.7343G>C (p.Trp2448Ser) c.7043G>C (p.Trp2348Ser) c.4307G>C (p.Trp1436Ser) c.3200G>C (p.Trp1067Ser) n.1830+5605C>G c.7226G>C (p.Trp2409Ser) c.2978G>C (p.Trp993Ser) c.6206G>C (p.Trp2069Ser) | |
8 | g.99776873G>T | CA371875737 | VPS13B | c.7421G>T (p.Trp2474Leu) n.7491G>T c.*3103G>T (n.*3103G>T) c.7346G>T (p.Trp2449Leu) n.378-1809G>T c.7418G>T (p.Trp2473Leu) c.7343G>T (p.Trp2448Leu) c.7043G>T (p.Trp2348Leu) c.4307G>T (p.Trp1436Leu) c.3200G>T (p.Trp1067Leu) n.1830+5605C>A c.7226G>T (p.Trp2409Leu) c.2978G>T (p.Trp993Leu) c.6206G>T (p.Trp2069Leu) | COSMIC COSMIC |
8 | g.99776874G>A | CA371875740 | VPS13B | c.7422G>A (p.Trp2474Ter) n.7492G>A c.*3104G>A (n.*3104G>A) c.7347G>A (p.Trp2449Ter) n.378-1808G>A c.7419G>A (p.Trp2473Ter) c.7344G>A (p.Trp2448Ter) c.7044G>A (p.Trp2348Ter) c.4308G>A (p.Trp1436Ter) c.3201G>A (p.Trp1067Ter) n.1830+5604C>T c.7227G>A (p.Trp2409Ter) c.2979G>A (p.Trp993Ter) c.6207G>A (p.Trp2069Ter) | |
8 | g.99776874G>C | CA371875742 | VPS13B | c.7422G>C (p.Trp2474Cys) n.7492G>C c.*3104G>C (n.*3104G>C) c.7347G>C (p.Trp2449Cys) n.378-1808G>C c.7419G>C (p.Trp2473Cys) c.7344G>C (p.Trp2448Cys) c.7044G>C (p.Trp2348Cys) c.4308G>C (p.Trp1436Cys) c.3201G>C (p.Trp1067Cys) n.1830+5604C>G c.7227G>C (p.Trp2409Cys) c.2979G>C (p.Trp993Cys) c.6207G>C (p.Trp2069Cys) | |
8 | g.99776874G>T | CA371875741 | VPS13B | c.7422G>T (p.Trp2474Cys) n.7492G>T c.*3104G>T (n.*3104G>T) c.7347G>T (p.Trp2449Cys) n.378-1808G>T c.7419G>T (p.Trp2473Cys) c.7344G>T (p.Trp2448Cys) c.7044G>T (p.Trp2348Cys) c.4308G>T (p.Trp1436Cys) c.3201G>T (p.Trp1067Cys) n.1830+5604C>A c.7227G>T (p.Trp2409Cys) c.2979G>T (p.Trp993Cys) c.6207G>T (p.Trp2069Cys) | ClinVar |
8 | g.99776875T>A | CA371875743 | VPS13B | c.7423T>A (p.Phe2475Ile) n.7493T>A c.*3105T>A (n.*3105T>A) c.7348T>A (p.Phe2450Ile) n.378-1807T>A c.7420T>A (p.Phe2474Ile) c.7345T>A (p.Phe2449Ile) c.7045T>A (p.Phe2349Ile) c.4309T>A (p.Phe1437Ile) c.3202T>A (p.Phe1068Ile) n.1830+5603A>T c.7228T>A (p.Phe2410Ile) c.2980T>A (p.Phe994Ile) c.6208T>A (p.Phe2070Ile) | |
8 | g.99776875T>C | CA371875745 | VPS13B | c.7423T>C (p.Phe2475Leu) n.7493T>C c.*3105T>C (n.*3105T>C) c.7348T>C (p.Phe2450Leu) n.378-1807T>C c.7420T>C (p.Phe2474Leu) c.7345T>C (p.Phe2449Leu) c.7045T>C (p.Phe2349Leu) c.4309T>C (p.Phe1437Leu) c.3202T>C (p.Phe1068Leu) n.1830+5603A>G c.7228T>C (p.Phe2410Leu) c.2980T>C (p.Phe994Leu) c.6208T>C (p.Phe2070Leu) | COSMIC COSMIC |
8 | g.99776875T>G | CA371875744 | VPS13B | c.7423T>G (p.Phe2475Val) n.7493T>G c.*3105T>G (n.*3105T>G) c.7348T>G (p.Phe2450Val) n.378-1807T>G c.7420T>G (p.Phe2474Val) c.7345T>G (p.Phe2449Val) c.7045T>G (p.Phe2349Val) c.4309T>G (p.Phe1437Val) c.3202T>G (p.Phe1068Val) n.1830+5603A>C c.7228T>G (p.Phe2410Val) c.2980T>G (p.Phe994Val) c.6208T>G (p.Phe2070Val) |