Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99819410_99819433del | CA2688070069 | VPS13B | c.8697-2_8718del n.8767-2_8788del c.*4379-2_*4400del c.8622-2_8643del c.8694-2_8715del c.8619-2_8640del c.8319-2_8340del c.5583-2_5604del c.4476-2_4497del c.8502-2_8523del c.4254-2_4275del c.7482-2_7503del | gnomAD v4 |
8 | g.99819433T>A | CA371776106 | VPS13B | c.8718T>A (p.Asp2906Glu) n.8788T>A c.*4400T>A (n.*4400T>A) c.8643T>A (p.Asp2881Glu) c.8715T>A (p.Asp2905Glu) c.8640T>A (p.Asp2880Glu) c.8340T>A (p.Asp2780Glu) c.5604T>A (p.Asp1868Glu) c.4497T>A (p.Asp1499Glu) c.8523T>A (p.Asp2841Glu) c.4275T>A (p.Asp1425Glu) c.7503T>A (p.Asp2501Glu) | |
8 | g.99819433T>C | CA462339367 | VPS13B | c.8718T>C (p.Asp2906=) n.8788T>C c.*4400T>C (n.*4400T>C) c.8643T>C (p.Asp2881=) c.8715T>C (p.Asp2905=) c.8640T>C (p.Asp2880=) c.8340T>C (p.Asp2780=) c.5604T>C (p.Asp1868=) c.4497T>C (p.Asp1499=) c.8523T>C (p.Asp2841=) c.4275T>C (p.Asp1425=) c.7503T>C (p.Asp2501=) | ClinVar dbSNP gnomAD v4 |
8 | g.99819433T>G | CA371776107 | VPS13B | c.8718T>G (p.Asp2906Glu) n.8788T>G c.*4400T>G (n.*4400T>G) c.8643T>G (p.Asp2881Glu) c.8715T>G (p.Asp2905Glu) c.8640T>G (p.Asp2880Glu) c.8340T>G (p.Asp2780Glu) c.5604T>G (p.Asp1868Glu) c.4497T>G (p.Asp1499Glu) c.8523T>G (p.Asp2841Glu) c.4275T>G (p.Asp1425Glu) c.7503T>G (p.Asp2501Glu) | |
8 | g.99819434T>A | CA371776109 | VPS13B | c.8719T>A (p.Cys2907Ser) n.8789T>A c.*4401T>A (n.*4401T>A) c.8644T>A (p.Cys2882Ser) c.8716T>A (p.Cys2906Ser) c.8641T>A (p.Cys2881Ser) c.8341T>A (p.Cys2781Ser) c.5605T>A (p.Cys1869Ser) c.4498T>A (p.Cys1500Ser) c.8524T>A (p.Cys2842Ser) c.4276T>A (p.Cys1426Ser) c.7504T>A (p.Cys2502Ser) | |
8 | g.99819434T>C | CA371776110 | VPS13B | c.8719T>C (p.Cys2907Arg) n.8789T>C c.*4401T>C (n.*4401T>C) c.8644T>C (p.Cys2882Arg) c.8716T>C (p.Cys2906Arg) c.8641T>C (p.Cys2881Arg) c.8341T>C (p.Cys2781Arg) c.5605T>C (p.Cys1869Arg) c.4498T>C (p.Cys1500Arg) c.8524T>C (p.Cys2842Arg) c.4276T>C (p.Cys1426Arg) c.7504T>C (p.Cys2502Arg) | |
8 | g.99819434T>G | CA371776112 | VPS13B | c.8719T>G (p.Cys2907Gly) n.8789T>G c.*4401T>G (n.*4401T>G) c.8644T>G (p.Cys2882Gly) c.8716T>G (p.Cys2906Gly) c.8641T>G (p.Cys2881Gly) c.8341T>G (p.Cys2781Gly) c.5605T>G (p.Cys1869Gly) c.4498T>G (p.Cys1500Gly) c.8524T>G (p.Cys2842Gly) c.4276T>G (p.Cys1426Gly) c.7504T>G (p.Cys2502Gly) | |
8 | g.99819435G>A | CA371776114 | VPS13B | c.8720G>A (p.Cys2907Tyr) n.8790G>A c.*4402G>A (n.*4402G>A) c.8645G>A (p.Cys2882Tyr) c.8717G>A (p.Cys2906Tyr) c.8642G>A (p.Cys2881Tyr) c.8342G>A (p.Cys2781Tyr) c.5606G>A (p.Cys1869Tyr) c.4499G>A (p.Cys1500Tyr) c.8525G>A (p.Cys2842Tyr) c.4277G>A (p.Cys1426Tyr) c.7505G>A (p.Cys2502Tyr) | |
8 | g.99819435G>C | CA371776115 | VPS13B | c.8720G>C (p.Cys2907Ser) n.8790G>C c.*4402G>C (n.*4402G>C) c.8645G>C (p.Cys2882Ser) c.8717G>C (p.Cys2906Ser) c.8642G>C (p.Cys2881Ser) c.8342G>C (p.Cys2781Ser) c.5606G>C (p.Cys1869Ser) c.4499G>C (p.Cys1500Ser) c.8525G>C (p.Cys2842Ser) c.4277G>C (p.Cys1426Ser) c.7505G>C (p.Cys2502Ser) | |
8 | g.99819435G>T | CA182328627 | VPS13B | c.8720G>T (p.Cys2907Phe) n.8790G>T c.*4402G>T (n.*4402G>T) c.8645G>T (p.Cys2882Phe) c.8717G>T (p.Cys2906Phe) c.8642G>T (p.Cys2881Phe) c.8342G>T (p.Cys2781Phe) c.5606G>T (p.Cys1869Phe) c.4499G>T (p.Cys1500Phe) c.8525G>T (p.Cys2842Phe) c.4277G>T (p.Cys1426Phe) c.7505G>T (p.Cys2502Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819436T>A | CA371776116 | VPS13B | c.8721T>A (p.Cys2907Ter) n.8791T>A c.*4403T>A (n.*4403T>A) c.8646T>A (p.Cys2882Ter) c.8718T>A (p.Cys2906Ter) c.8643T>A (p.Cys2881Ter) c.8343T>A (p.Cys2781Ter) c.5607T>A (p.Cys1869Ter) c.4500T>A (p.Cys1500Ter) c.8526T>A (p.Cys2842Ter) c.4278T>A (p.Cys1426Ter) c.7506T>A (p.Cys2502Ter) | |
8 | g.99819436T>C | CA462339370 | VPS13B | c.8721T>C (p.Cys2907=) n.8791T>C c.*4403T>C (n.*4403T>C) c.8646T>C (p.Cys2882=) c.8718T>C (p.Cys2906=) c.8643T>C (p.Cys2881=) c.8343T>C (p.Cys2781=) c.5607T>C (p.Cys1869=) c.4500T>C (p.Cys1500=) c.8526T>C (p.Cys2842=) c.4278T>C (p.Cys1426=) c.7506T>C (p.Cys2502=) | ClinVar gnomAD v4 |
8 | g.99819436T>G | CA371776117 | VPS13B | c.8721T>G (p.Cys2907Trp) n.8791T>G c.*4403T>G (n.*4403T>G) c.8646T>G (p.Cys2882Trp) c.8718T>G (p.Cys2906Trp) c.8643T>G (p.Cys2881Trp) c.8343T>G (p.Cys2781Trp) c.5607T>G (p.Cys1869Trp) c.4500T>G (p.Cys1500Trp) c.8526T>G (p.Cys2842Trp) c.4278T>G (p.Cys1426Trp) c.7506T>G (p.Cys2502Trp) | |
8 | g.99819437G>A | CA371776118 | VPS13B | c.8722G>A (p.Ala2908Thr) n.8792G>A c.*4404G>A (n.*4404G>A) c.8647G>A (p.Ala2883Thr) c.8719G>A (p.Ala2907Thr) c.8644G>A (p.Ala2882Thr) c.8344G>A (p.Ala2782Thr) c.5608G>A (p.Ala1870Thr) c.4501G>A (p.Ala1501Thr) c.8527G>A (p.Ala2843Thr) c.4279G>A (p.Ala1427Thr) c.7507G>A (p.Ala2503Thr) | |
8 | g.99819437G>C | CA371776119 | VPS13B | c.8722G>C (p.Ala2908Pro) n.8792G>C c.*4404G>C (n.*4404G>C) c.8647G>C (p.Ala2883Pro) c.8719G>C (p.Ala2907Pro) c.8644G>C (p.Ala2882Pro) c.8344G>C (p.Ala2782Pro) c.5608G>C (p.Ala1870Pro) c.4501G>C (p.Ala1501Pro) c.8527G>C (p.Ala2843Pro) c.4279G>C (p.Ala1427Pro) c.7507G>C (p.Ala2503Pro) | |
8 | g.99819437G>T | CA371776120 | VPS13B | c.8722G>T (p.Ala2908Ser) n.8792G>T c.*4404G>T (n.*4404G>T) c.8647G>T (p.Ala2883Ser) c.8719G>T (p.Ala2907Ser) c.8644G>T (p.Ala2882Ser) c.8344G>T (p.Ala2782Ser) c.5608G>T (p.Ala1870Ser) c.4501G>T (p.Ala1501Ser) c.8527G>T (p.Ala2843Ser) c.4279G>T (p.Ala1427Ser) c.7507G>T (p.Ala2503Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819438C>A | CA371776121 | VPS13B | c.8723C>A (p.Ala2908Glu) n.8793C>A c.*4405C>A (n.*4405C>A) c.8648C>A (p.Ala2883Glu) c.8720C>A (p.Ala2907Glu) c.8645C>A (p.Ala2882Glu) c.8345C>A (p.Ala2782Glu) c.5609C>A (p.Ala1870Glu) c.4502C>A (p.Ala1501Glu) c.8528C>A (p.Ala2843Glu) c.4280C>A (p.Ala1427Glu) c.7508C>A (p.Ala2503Glu) | |
8 | g.99819438C>G | CA371776122 | VPS13B | c.8723C>G (p.Ala2908Gly) n.8793C>G c.*4405C>G (n.*4405C>G) c.8648C>G (p.Ala2883Gly) c.8720C>G (p.Ala2907Gly) c.8645C>G (p.Ala2882Gly) c.8345C>G (p.Ala2782Gly) c.5609C>G (p.Ala1870Gly) c.4502C>G (p.Ala1501Gly) c.8528C>G (p.Ala2843Gly) c.4280C>G (p.Ala1427Gly) c.7508C>G (p.Ala2503Gly) | |
8 | g.99819438C>T | CA182328628 | VPS13B | c.8723C>T (p.Ala2908Val) n.8793C>T c.*4405C>T (n.*4405C>T) c.8648C>T (p.Ala2883Val) c.8720C>T (p.Ala2907Val) c.8645C>T (p.Ala2882Val) c.8345C>T (p.Ala2782Val) c.5609C>T (p.Ala1870Val) c.4502C>T (p.Ala1501Val) c.8528C>T (p.Ala2843Val) c.4280C>T (p.Ala1427Val) c.7508C>T (p.Ala2503Val) | dbSNP |
8 | g.99819439A>C | CA462339376 | VPS13B | c.8724A>C (p.Ala2908=) n.8794A>C c.*4406A>C (n.*4406A>C) c.8649A>C (p.Ala2883=) c.8721A>C (p.Ala2907=) c.8646A>C (p.Ala2882=) c.8346A>C (p.Ala2782=) c.5610A>C (p.Ala1870=) c.4503A>C (p.Ala1501=) c.8529A>C (p.Ala2843=) c.4281A>C (p.Ala1427=) c.7509A>C (p.Ala2503=) | |
8 | g.99819439A>G | CA462339378 | VPS13B | c.8724A>G (p.Ala2908=) n.8794A>G c.*4406A>G (n.*4406A>G) c.8649A>G (p.Ala2883=) c.8721A>G (p.Ala2907=) c.8646A>G (p.Ala2882=) c.8346A>G (p.Ala2782=) c.5610A>G (p.Ala1870=) c.4503A>G (p.Ala1501=) c.8529A>G (p.Ala2843=) c.4281A>G (p.Ala1427=) c.7509A>G (p.Ala2503=) | |
8 | g.99819439A>T | CA462339379 | VPS13B | c.8724A>T (p.Ala2908=) n.8794A>T c.*4406A>T (n.*4406A>T) c.8649A>T (p.Ala2883=) c.8721A>T (p.Ala2907=) c.8646A>T (p.Ala2882=) c.8346A>T (p.Ala2782=) c.5610A>T (p.Ala1870=) c.4503A>T (p.Ala1501=) c.8529A>T (p.Ala2843=) c.4281A>T (p.Ala1427=) c.7509A>T (p.Ala2503=) | |
8 | g.99819440G>A | CA371776123 | VPS13B | c.8725G>A (p.Val2909Ile) n.8795G>A c.*4407G>A (n.*4407G>A) c.8650G>A (p.Val2884Ile) c.8722G>A (p.Val2908Ile) c.8647G>A (p.Val2883Ile) c.8347G>A (p.Val2783Ile) c.5611G>A (p.Val1871Ile) c.4504G>A (p.Val1502Ile) c.8530G>A (p.Val2844Ile) c.4282G>A (p.Val1428Ile) c.7510G>A (p.Val2504Ile) | gnomAD v4 |
8 | g.99819440G>C | CA371776124 | VPS13B | c.8725G>C (p.Val2909Leu) n.8795G>C c.*4407G>C (n.*4407G>C) c.8650G>C (p.Val2884Leu) c.8722G>C (p.Val2908Leu) c.8647G>C (p.Val2883Leu) c.8347G>C (p.Val2783Leu) c.5611G>C (p.Val1871Leu) c.4504G>C (p.Val1502Leu) c.8530G>C (p.Val2844Leu) c.4282G>C (p.Val1428Leu) c.7510G>C (p.Val2504Leu) | |
8 | g.99819440G>T | CA371776126 | VPS13B | c.8725G>T (p.Val2909Phe) n.8795G>T c.*4407G>T (n.*4407G>T) c.8650G>T (p.Val2884Phe) c.8722G>T (p.Val2908Phe) c.8647G>T (p.Val2883Phe) c.8347G>T (p.Val2783Phe) c.5611G>T (p.Val1871Phe) c.4504G>T (p.Val1502Phe) c.8530G>T (p.Val2844Phe) c.4282G>T (p.Val1428Phe) c.7510G>T (p.Val2504Phe) | |
8 | g.99819441T>A | CA371776128 | VPS13B | c.8726T>A (p.Val2909Asp) n.8796T>A c.*4408T>A (n.*4408T>A) c.8651T>A (p.Val2884Asp) c.8723T>A (p.Val2908Asp) c.8648T>A (p.Val2883Asp) c.8348T>A (p.Val2783Asp) c.5612T>A (p.Val1871Asp) c.4505T>A (p.Val1502Asp) c.8531T>A (p.Val2844Asp) c.4283T>A (p.Val1428Asp) c.7511T>A (p.Val2504Asp) | |
8 | g.99819441T>C | CA4824520 | VPS13B | c.8726T>C (p.Val2909Ala) n.8796T>C c.*4408T>C (n.*4408T>C) c.8651T>C (p.Val2884Ala) c.8723T>C (p.Val2908Ala) c.8648T>C (p.Val2883Ala) c.8348T>C (p.Val2783Ala) c.5612T>C (p.Val1871Ala) c.4505T>C (p.Val1502Ala) c.8531T>C (p.Val2844Ala) c.4283T>C (p.Val1428Ala) c.7511T>C (p.Val2504Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819441T>G | CA371776130 | VPS13B | c.8726T>G (p.Val2909Gly) n.8796T>G c.*4408T>G (n.*4408T>G) c.8651T>G (p.Val2884Gly) c.8723T>G (p.Val2908Gly) c.8648T>G (p.Val2883Gly) c.8348T>G (p.Val2783Gly) c.5612T>G (p.Val1871Gly) c.4505T>G (p.Val1502Gly) c.8531T>G (p.Val2844Gly) c.4283T>G (p.Val1428Gly) c.7511T>G (p.Val2504Gly) | |
8 | g.99819442T>A | CA462339383 | VPS13B | c.8727T>A (p.Val2909=) n.8797T>A c.*4409T>A (n.*4409T>A) c.8652T>A (p.Val2884=) c.8724T>A (p.Val2908=) c.8649T>A (p.Val2883=) c.8349T>A (p.Val2783=) c.5613T>A (p.Val1871=) c.4506T>A (p.Val1502=) c.8532T>A (p.Val2844=) c.4284T>A (p.Val1428=) c.7512T>A (p.Val2504=) | |
8 | g.99819442T>C | CA462339384 | VPS13B | c.8727T>C (p.Val2909=) n.8797T>C c.*4409T>C (n.*4409T>C) c.8652T>C (p.Val2884=) c.8724T>C (p.Val2908=) c.8649T>C (p.Val2883=) c.8349T>C (p.Val2783=) c.5613T>C (p.Val1871=) c.4506T>C (p.Val1502=) c.8532T>C (p.Val2844=) c.4284T>C (p.Val1428=) c.7512T>C (p.Val2504=) | |
8 | g.99819442T>G | CA462339385 | VPS13B | c.8727T>G (p.Val2909=) n.8797T>G c.*4409T>G (n.*4409T>G) c.8652T>G (p.Val2884=) c.8724T>G (p.Val2908=) c.8649T>G (p.Val2883=) c.8349T>G (p.Val2783=) c.5613T>G (p.Val1871=) c.4506T>G (p.Val1502=) c.8532T>G (p.Val2844=) c.4284T>G (p.Val1428=) c.7512T>G (p.Val2504=) | |
8 | g.99819443C>A | CA371776136 | VPS13B | c.8728C>A (p.Pro2910Thr) n.8798C>A c.*4410C>A (n.*4410C>A) c.8653C>A (p.Pro2885Thr) c.8725C>A (p.Pro2909Thr) c.8650C>A (p.Pro2884Thr) c.8350C>A (p.Pro2784Thr) c.5614C>A (p.Pro1872Thr) c.4507C>A (p.Pro1503Thr) c.8533C>A (p.Pro2845Thr) c.4285C>A (p.Pro1429Thr) c.7513C>A (p.Pro2505Thr) | |
8 | g.99819443C>G | CA371776134 | VPS13B | c.8728C>G (p.Pro2910Ala) n.8798C>G c.*4410C>G (n.*4410C>G) c.8653C>G (p.Pro2885Ala) c.8725C>G (p.Pro2909Ala) c.8650C>G (p.Pro2884Ala) c.8350C>G (p.Pro2784Ala) c.5614C>G (p.Pro1872Ala) c.4507C>G (p.Pro1503Ala) c.8533C>G (p.Pro2845Ala) c.4285C>G (p.Pro1429Ala) c.7513C>G (p.Pro2505Ala) | |
8 | g.99819443C>T | CA371776133 | VPS13B | c.8728C>T (p.Pro2910Ser) n.8798C>T c.*4410C>T (n.*4410C>T) c.8653C>T (p.Pro2885Ser) c.8725C>T (p.Pro2909Ser) c.8650C>T (p.Pro2884Ser) c.8350C>T (p.Pro2784Ser) c.5614C>T (p.Pro1872Ser) c.4507C>T (p.Pro1503Ser) c.8533C>T (p.Pro2845Ser) c.4285C>T (p.Pro1429Ser) c.7513C>T (p.Pro2505Ser) | COSMIC COSMIC |
8 | g.99819444C>A | CA371776139 | VPS13B | c.8729C>A (p.Pro2910His) n.8799C>A c.*4411C>A (n.*4411C>A) c.8654C>A (p.Pro2885His) c.8726C>A (p.Pro2909His) c.8651C>A (p.Pro2884His) c.8351C>A (p.Pro2784His) c.5615C>A (p.Pro1872His) c.4508C>A (p.Pro1503His) c.8534C>A (p.Pro2845His) c.4286C>A (p.Pro1429His) c.7514C>A (p.Pro2505His) | |
8 | g.99819444C>G | CA371776140 | VPS13B | c.8729C>G (p.Pro2910Arg) n.8799C>G c.*4411C>G (n.*4411C>G) c.8654C>G (p.Pro2885Arg) c.8726C>G (p.Pro2909Arg) c.8651C>G (p.Pro2884Arg) c.8351C>G (p.Pro2784Arg) c.5615C>G (p.Pro1872Arg) c.4508C>G (p.Pro1503Arg) c.8534C>G (p.Pro2845Arg) c.4286C>G (p.Pro1429Arg) c.7514C>G (p.Pro2505Arg) | |
8 | g.99819444C>T | CA371776141 | VPS13B | c.8729C>T (p.Pro2910Leu) n.8799C>T c.*4411C>T (n.*4411C>T) c.8654C>T (p.Pro2885Leu) c.8726C>T (p.Pro2909Leu) c.8651C>T (p.Pro2884Leu) c.8351C>T (p.Pro2784Leu) c.5615C>T (p.Pro1872Leu) c.4508C>T (p.Pro1503Leu) c.8534C>T (p.Pro2845Leu) c.4286C>T (p.Pro1429Leu) c.7514C>T (p.Pro2505Leu) | ClinVar |
8 | g.99819445C>A | CA462339387 | VPS13B | c.8730C>A (p.Pro2910=) n.8800C>A c.*4412C>A (n.*4412C>A) c.8655C>A (p.Pro2885=) c.8727C>A (p.Pro2909=) c.8652C>A (p.Pro2884=) c.8352C>A (p.Pro2784=) c.5616C>A (p.Pro1872=) c.4509C>A (p.Pro1503=) c.8535C>A (p.Pro2845=) c.4287C>A (p.Pro1429=) c.7515C>A (p.Pro2505=) | |
8 | g.99819445C>G | CA462339388 | VPS13B | c.8730C>G (p.Pro2910=) n.8800C>G c.*4412C>G (n.*4412C>G) c.8655C>G (p.Pro2885=) c.8727C>G (p.Pro2909=) c.8652C>G (p.Pro2884=) c.8352C>G (p.Pro2784=) c.5616C>G (p.Pro1872=) c.4509C>G (p.Pro1503=) c.8535C>G (p.Pro2845=) c.4287C>G (p.Pro1429=) c.7515C>G (p.Pro2505=) | |
8 | g.99819445C>T | CA462339389 | VPS13B | c.8730C>T (p.Pro2910=) n.8800C>T c.*4412C>T (n.*4412C>T) c.8655C>T (p.Pro2885=) c.8727C>T (p.Pro2909=) c.8652C>T (p.Pro2884=) c.8352C>T (p.Pro2784=) c.5616C>T (p.Pro1872=) c.4509C>T (p.Pro1503=) c.8535C>T (p.Pro2845=) c.4287C>T (p.Pro1429=) c.7515C>T (p.Pro2505=) | ClinVar COSMIC COSMIC |
8 | g.99819446A>C | CA371776144 | VPS13B | c.8731A>C (p.Ile2911Leu) n.8801A>C c.*4413A>C (n.*4413A>C) c.8656A>C (p.Ile2886Leu) c.8728A>C (p.Ile2910Leu) c.8653A>C (p.Ile2885Leu) c.8353A>C (p.Ile2785Leu) c.5617A>C (p.Ile1873Leu) c.4510A>C (p.Ile1504Leu) c.8536A>C (p.Ile2846Leu) c.4288A>C (p.Ile1430Leu) c.7516A>C (p.Ile2506Leu) | |
8 | g.99819446A>G | CA371776146 | VPS13B | c.8731A>G (p.Ile2911Val) n.8801A>G c.*4413A>G (n.*4413A>G) c.8656A>G (p.Ile2886Val) c.8728A>G (p.Ile2910Val) c.8653A>G (p.Ile2885Val) c.8353A>G (p.Ile2785Val) c.5617A>G (p.Ile1873Val) c.4510A>G (p.Ile1504Val) c.8536A>G (p.Ile2846Val) c.4288A>G (p.Ile1430Val) c.7516A>G (p.Ile2506Val) | |
8 | g.99819446A>T | CA371776148 | VPS13B | c.8731A>T (p.Ile2911Phe) n.8801A>T c.*4413A>T (n.*4413A>T) c.8656A>T (p.Ile2886Phe) c.8728A>T (p.Ile2910Phe) c.8653A>T (p.Ile2885Phe) c.8353A>T (p.Ile2785Phe) c.5617A>T (p.Ile1873Phe) c.4510A>T (p.Ile1504Phe) c.8536A>T (p.Ile2846Phe) c.4288A>T (p.Ile1430Phe) c.7516A>T (p.Ile2506Phe) | |
8 | g.99819447T>A | CA371776150 | VPS13B | c.8732T>A (p.Ile2911Asn) n.8802T>A c.*4414T>A (n.*4414T>A) c.8657T>A (p.Ile2886Asn) c.8729T>A (p.Ile2910Asn) c.8654T>A (p.Ile2885Asn) c.8354T>A (p.Ile2785Asn) c.5618T>A (p.Ile1873Asn) c.4511T>A (p.Ile1504Asn) c.8537T>A (p.Ile2846Asn) c.4289T>A (p.Ile1430Asn) c.7517T>A (p.Ile2506Asn) | |
8 | g.99819447T>C | CA371776153 | VPS13B | c.8732T>C (p.Ile2911Thr) n.8802T>C c.*4414T>C (n.*4414T>C) c.8657T>C (p.Ile2886Thr) c.8729T>C (p.Ile2910Thr) c.8654T>C (p.Ile2885Thr) c.8354T>C (p.Ile2785Thr) c.5618T>C (p.Ile1873Thr) c.4511T>C (p.Ile1504Thr) c.8537T>C (p.Ile2846Thr) c.4289T>C (p.Ile1430Thr) c.7517T>C (p.Ile2506Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819447T>G | CA371776151 | VPS13B | c.8732T>G (p.Ile2911Ser) n.8802T>G c.*4414T>G (n.*4414T>G) c.8657T>G (p.Ile2886Ser) c.8729T>G (p.Ile2910Ser) c.8654T>G (p.Ile2885Ser) c.8354T>G (p.Ile2785Ser) c.5618T>G (p.Ile1873Ser) c.4511T>G (p.Ile1504Ser) c.8537T>G (p.Ile2846Ser) c.4289T>G (p.Ile1430Ser) c.7517T>G (p.Ile2506Ser) | |
8 | g.99819448C>A | CA462339393 | VPS13B | c.8733C>A (p.Ile2911=) n.8803C>A c.*4415C>A (n.*4415C>A) c.8658C>A (p.Ile2886=) c.8730C>A (p.Ile2910=) c.8655C>A (p.Ile2885=) c.8355C>A (p.Ile2785=) c.5619C>A (p.Ile1873=) c.4512C>A (p.Ile1504=) c.8538C>A (p.Ile2846=) c.4290C>A (p.Ile1430=) c.7518C>A (p.Ile2506=) | |
8 | g.99819448C>G | CA371776156 | VPS13B | c.8733C>G (p.Ile2911Met) n.8803C>G c.*4415C>G (n.*4415C>G) c.8658C>G (p.Ile2886Met) c.8730C>G (p.Ile2910Met) c.8655C>G (p.Ile2885Met) c.8355C>G (p.Ile2785Met) c.5619C>G (p.Ile1873Met) c.4512C>G (p.Ile1504Met) c.8538C>G (p.Ile2846Met) c.4290C>G (p.Ile1430Met) c.7518C>G (p.Ile2506Met) | |
8 | g.99819448C>T | CA462339395 | VPS13B | c.8733C>T (p.Ile2911=) n.8803C>T c.*4415C>T (n.*4415C>T) c.8658C>T (p.Ile2886=) c.8730C>T (p.Ile2910=) c.8655C>T (p.Ile2885=) c.8355C>T (p.Ile2785=) c.5619C>T (p.Ile1873=) c.4512C>T (p.Ile1504=) c.8538C>T (p.Ile2846=) c.4290C>T (p.Ile1430=) c.7518C>T (p.Ile2506=) | |
8 | g.99819449T>A | CA371776158 | VPS13B | c.8734T>A (p.Ser2912Thr) n.8804T>A c.*4416T>A (n.*4416T>A) c.8659T>A (p.Ser2887Thr) c.8731T>A (p.Ser2911Thr) c.8656T>A (p.Ser2886Thr) c.8356T>A (p.Ser2786Thr) c.5620T>A (p.Ser1874Thr) c.4513T>A (p.Ser1505Thr) c.8539T>A (p.Ser2847Thr) c.4291T>A (p.Ser1431Thr) c.7519T>A (p.Ser2507Thr) | |
8 | g.99819449T>C | CA371776159 | VPS13B | c.8734T>C (p.Ser2912Pro) n.8804T>C c.*4416T>C (n.*4416T>C) c.8659T>C (p.Ser2887Pro) c.8731T>C (p.Ser2911Pro) c.8656T>C (p.Ser2886Pro) c.8356T>C (p.Ser2786Pro) c.5620T>C (p.Ser1874Pro) c.4513T>C (p.Ser1505Pro) c.8539T>C (p.Ser2847Pro) c.4291T>C (p.Ser1431Pro) c.7519T>C (p.Ser2507Pro) | |
8 | g.99819449T>G | CA371776160 | VPS13B | c.8734T>G (p.Ser2912Ala) n.8804T>G c.*4416T>G (n.*4416T>G) c.8659T>G (p.Ser2887Ala) c.8731T>G (p.Ser2911Ala) c.8656T>G (p.Ser2886Ala) c.8356T>G (p.Ser2786Ala) c.5620T>G (p.Ser1874Ala) c.4513T>G (p.Ser1505Ala) c.8539T>G (p.Ser2847Ala) c.4291T>G (p.Ser1431Ala) c.7519T>G (p.Ser2507Ala) | |
8 | g.99819450C>A | CA371776161 | VPS13B | c.8735C>A (p.Ser2912Ter) n.8805C>A c.*4417C>A (n.*4417C>A) c.8660C>A (p.Ser2887Ter) c.8732C>A (p.Ser2911Ter) c.8657C>A (p.Ser2886Ter) c.8357C>A (p.Ser2786Ter) c.5621C>A (p.Ser1874Ter) c.4514C>A (p.Ser1505Ter) c.8540C>A (p.Ser2847Ter) c.4292C>A (p.Ser1431Ter) c.7520C>A (p.Ser2507Ter) | |
8 | g.99819450C>G | CA371776162 | VPS13B | c.8735C>G (p.Ser2912Ter) n.8805C>G c.*4417C>G (n.*4417C>G) c.8660C>G (p.Ser2887Ter) c.8732C>G (p.Ser2911Ter) c.8657C>G (p.Ser2886Ter) c.8357C>G (p.Ser2786Ter) c.5621C>G (p.Ser1874Ter) c.4514C>G (p.Ser1505Ter) c.8540C>G (p.Ser2847Ter) c.4292C>G (p.Ser1431Ter) c.7520C>G (p.Ser2507Ter) | dbSNP |
8 | g.99819450C>T | CA371776164 | VPS13B | c.8735C>T (p.Ser2912Leu) n.8805C>T c.*4417C>T (n.*4417C>T) c.8660C>T (p.Ser2887Leu) c.8732C>T (p.Ser2911Leu) c.8657C>T (p.Ser2886Leu) c.8357C>T (p.Ser2786Leu) c.5621C>T (p.Ser1874Leu) c.4514C>T (p.Ser1505Leu) c.8540C>T (p.Ser2847Leu) c.4292C>T (p.Ser1431Leu) c.7520C>T (p.Ser2507Leu) | gnomAD v4 |
8 | g.99819451A>C | CA462339398 | VPS13B | c.8736A>C (p.Ser2912=) n.8806A>C c.*4418A>C (n.*4418A>C) c.8661A>C (p.Ser2887=) c.8733A>C (p.Ser2911=) c.8658A>C (p.Ser2886=) c.8358A>C (p.Ser2786=) c.5622A>C (p.Ser1874=) c.4515A>C (p.Ser1505=) c.8541A>C (p.Ser2847=) c.4293A>C (p.Ser1431=) c.7521A>C (p.Ser2507=) | |
8 | g.99819451A>G | CA4824521 | VPS13B | c.8736A>G (p.Ser2912=) n.8806A>G c.*4418A>G (n.*4418A>G) c.8661A>G (p.Ser2887=) c.8733A>G (p.Ser2911=) c.8658A>G (p.Ser2886=) c.8358A>G (p.Ser2786=) c.5622A>G (p.Ser1874=) c.4515A>G (p.Ser1505=) c.8541A>G (p.Ser2847=) c.4293A>G (p.Ser1431=) c.7521A>G (p.Ser2507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819451A>T | CA462339400 | VPS13B | c.8736A>T (p.Ser2912=) n.8806A>T c.*4418A>T (n.*4418A>T) c.8661A>T (p.Ser2887=) c.8733A>T (p.Ser2911=) c.8658A>T (p.Ser2886=) c.8358A>T (p.Ser2786=) c.5622A>T (p.Ser1874=) c.4515A>T (p.Ser1505=) c.8541A>T (p.Ser2847=) c.4293A>T (p.Ser1431=) c.7521A>T (p.Ser2507=) | |
8 | g.99819452A>C | CA371776167 | VPS13B | c.8737A>C (p.Thr2913Pro) n.8807A>C c.*4419A>C (n.*4419A>C) c.8662A>C (p.Thr2888Pro) c.8734A>C (p.Thr2912Pro) c.8659A>C (p.Thr2887Pro) c.8359A>C (p.Thr2787Pro) c.5623A>C (p.Thr1875Pro) c.4516A>C (p.Thr1506Pro) c.8542A>C (p.Thr2848Pro) c.4294A>C (p.Thr1432Pro) c.7522A>C (p.Thr2508Pro) | |
8 | g.99819452A>G | CA371776169 | VPS13B | c.8737A>G (p.Thr2913Ala) n.8807A>G c.*4419A>G (n.*4419A>G) c.8662A>G (p.Thr2888Ala) c.8734A>G (p.Thr2912Ala) c.8659A>G (p.Thr2887Ala) c.8359A>G (p.Thr2787Ala) c.5623A>G (p.Thr1875Ala) c.4516A>G (p.Thr1506Ala) c.8542A>G (p.Thr2848Ala) c.4294A>G (p.Thr1432Ala) c.7522A>G (p.Thr2508Ala) | COSMIC COSMIC |
8 | g.99819452A>T | CA371776171 | VPS13B | c.8737A>T (p.Thr2913Ser) n.8807A>T c.*4419A>T (n.*4419A>T) c.8662A>T (p.Thr2888Ser) c.8734A>T (p.Thr2912Ser) c.8659A>T (p.Thr2887Ser) c.8359A>T (p.Thr2787Ser) c.5623A>T (p.Thr1875Ser) c.4516A>T (p.Thr1506Ser) c.8542A>T (p.Thr2848Ser) c.4294A>T (p.Thr1432Ser) c.7522A>T (p.Thr2508Ser) | |
8 | g.99819453C>A | CA371776172 | VPS13B | c.8738C>A (p.Thr2913Lys) n.8808C>A c.*4420C>A (n.*4420C>A) c.8663C>A (p.Thr2888Lys) c.8735C>A (p.Thr2912Lys) c.8660C>A (p.Thr2887Lys) c.8360C>A (p.Thr2787Lys) c.5624C>A (p.Thr1875Lys) c.4517C>A (p.Thr1506Lys) c.8543C>A (p.Thr2848Lys) c.4295C>A (p.Thr1432Lys) c.7523C>A (p.Thr2508Lys) | |
8 | g.99819453C>G | CA371776176 | VPS13B | c.8738C>G (p.Thr2913Arg) n.8808C>G c.*4420C>G (n.*4420C>G) c.8663C>G (p.Thr2888Arg) c.8735C>G (p.Thr2912Arg) c.8660C>G (p.Thr2887Arg) c.8360C>G (p.Thr2787Arg) c.5624C>G (p.Thr1875Arg) c.4517C>G (p.Thr1506Arg) c.8543C>G (p.Thr2848Arg) c.4295C>G (p.Thr1432Arg) c.7523C>G (p.Thr2508Arg) | |
8 | g.99819453C>T | CA371776174 | VPS13B | c.8738C>T (p.Thr2913Ile) n.8808C>T c.*4420C>T (n.*4420C>T) c.8663C>T (p.Thr2888Ile) c.8735C>T (p.Thr2912Ile) c.8660C>T (p.Thr2887Ile) c.8360C>T (p.Thr2787Ile) c.5624C>T (p.Thr1875Ile) c.4517C>T (p.Thr1506Ile) c.8543C>T (p.Thr2848Ile) c.4295C>T (p.Thr1432Ile) c.7523C>T (p.Thr2508Ile) | |
8 | g.99819454A>C | CA462339460 | VPS13B | c.8739A>C (p.Thr2913=) n.8809A>C c.*4421A>C (n.*4421A>C) c.8664A>C (p.Thr2888=) c.8736A>C (p.Thr2912=) c.8661A>C (p.Thr2887=) c.8361A>C (p.Thr2787=) c.5625A>C (p.Thr1875=) c.4518A>C (p.Thr1506=) c.8544A>C (p.Thr2848=) c.4296A>C (p.Thr1432=) c.7524A>C (p.Thr2508=) | |
8 | g.99819454A>G | CA4824522 | VPS13B | c.8739A>G (p.Thr2913=) n.8809A>G c.*4421A>G (n.*4421A>G) c.8664A>G (p.Thr2888=) c.8736A>G (p.Thr2912=) c.8661A>G (p.Thr2887=) c.8361A>G (p.Thr2787=) c.5625A>G (p.Thr1875=) c.4518A>G (p.Thr1506=) c.8544A>G (p.Thr2848=) c.4296A>G (p.Thr1432=) c.7524A>G (p.Thr2508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819454A>T | CA462339461 | VPS13B | c.8739A>T (p.Thr2913=) n.8809A>T c.*4421A>T (n.*4421A>T) c.8664A>T (p.Thr2888=) c.8736A>T (p.Thr2912=) c.8661A>T (p.Thr2887=) c.8361A>T (p.Thr2787=) c.5625A>T (p.Thr1875=) c.4518A>T (p.Thr1506=) c.8544A>T (p.Thr2848=) c.4296A>T (p.Thr1432=) c.7524A>T (p.Thr2508=) | |
8 | g.99819455T>A | CA371776179 | VPS13B | c.8740T>A (p.Ser2914Thr) n.8810T>A c.*4422T>A (n.*4422T>A) c.8665T>A (p.Ser2889Thr) c.8737T>A (p.Ser2913Thr) c.8662T>A (p.Ser2888Thr) c.8362T>A (p.Ser2788Thr) c.5626T>A (p.Ser1876Thr) c.4519T>A (p.Ser1507Thr) c.8545T>A (p.Ser2849Thr) c.4297T>A (p.Ser1433Thr) c.7525T>A (p.Ser2509Thr) | |
8 | g.99819455T>C | CA371776181 | VPS13B | c.8740T>C (p.Ser2914Pro) n.8810T>C c.*4422T>C (n.*4422T>C) c.8665T>C (p.Ser2889Pro) c.8737T>C (p.Ser2913Pro) c.8662T>C (p.Ser2888Pro) c.8362T>C (p.Ser2788Pro) c.5626T>C (p.Ser1876Pro) c.4519T>C (p.Ser1507Pro) c.8545T>C (p.Ser2849Pro) c.4297T>C (p.Ser1433Pro) c.7525T>C (p.Ser2509Pro) | |
8 | g.99819455T>G | CA371776183 | VPS13B | c.8740T>G (p.Ser2914Ala) n.8810T>G c.*4422T>G (n.*4422T>G) c.8665T>G (p.Ser2889Ala) c.8737T>G (p.Ser2913Ala) c.8662T>G (p.Ser2888Ala) c.8362T>G (p.Ser2788Ala) c.5626T>G (p.Ser1876Ala) c.4519T>G (p.Ser1507Ala) c.8545T>G (p.Ser2849Ala) c.4297T>G (p.Ser1433Ala) c.7525T>G (p.Ser2509Ala) | |
8 | g.99819456C>A | CA371776185 | VPS13B | c.8741C>A (p.Ser2914Tyr) n.8811C>A c.*4423C>A (n.*4423C>A) c.8666C>A (p.Ser2889Tyr) c.8738C>A (p.Ser2913Tyr) c.8663C>A (p.Ser2888Tyr) c.8363C>A (p.Ser2788Tyr) c.5627C>A (p.Ser1876Tyr) c.4520C>A (p.Ser1507Tyr) c.8546C>A (p.Ser2849Tyr) c.4298C>A (p.Ser1433Tyr) c.7526C>A (p.Ser2509Tyr) | |
8 | g.99819456C>G | CA371776187 | VPS13B | c.8741C>G (p.Ser2914Cys) n.8811C>G c.*4423C>G (n.*4423C>G) c.8666C>G (p.Ser2889Cys) c.8738C>G (p.Ser2913Cys) c.8663C>G (p.Ser2888Cys) c.8363C>G (p.Ser2788Cys) c.5627C>G (p.Ser1876Cys) c.4520C>G (p.Ser1507Cys) c.8546C>G (p.Ser2849Cys) c.4298C>G (p.Ser1433Cys) c.7526C>G (p.Ser2509Cys) | |
8 | g.99819456C>T | CA371776189 | VPS13B | c.8741C>T (p.Ser2914Phe) n.8811C>T c.*4423C>T (n.*4423C>T) c.8666C>T (p.Ser2889Phe) c.8738C>T (p.Ser2913Phe) c.8663C>T (p.Ser2888Phe) c.8363C>T (p.Ser2788Phe) c.5627C>T (p.Ser1876Phe) c.4520C>T (p.Ser1507Phe) c.8546C>T (p.Ser2849Phe) c.4298C>T (p.Ser1433Phe) c.7526C>T (p.Ser2509Phe) | |
8 | g.99819457C>A | CA462339462 | VPS13B | c.8742C>A (p.Ser2914=) n.8812C>A c.*4424C>A (n.*4424C>A) c.8667C>A (p.Ser2889=) c.8739C>A (p.Ser2913=) c.8664C>A (p.Ser2888=) c.8364C>A (p.Ser2788=) c.5628C>A (p.Ser1876=) c.4521C>A (p.Ser1507=) c.8547C>A (p.Ser2849=) c.4299C>A (p.Ser1433=) c.7527C>A (p.Ser2509=) | |
8 | g.99819457C>G | CA462339463 | VPS13B | c.8742C>G (p.Ser2914=) n.8812C>G c.*4424C>G (n.*4424C>G) c.8667C>G (p.Ser2889=) c.8739C>G (p.Ser2913=) c.8664C>G (p.Ser2888=) c.8364C>G (p.Ser2788=) c.5628C>G (p.Ser1876=) c.4521C>G (p.Ser1507=) c.8547C>G (p.Ser2849=) c.4299C>G (p.Ser1433=) c.7527C>G (p.Ser2509=) | |
8 | g.99819457C>T | CA462339464 | VPS13B | c.8742C>T (p.Ser2914=) n.8812C>T c.*4424C>T (n.*4424C>T) c.8667C>T (p.Ser2889=) c.8739C>T (p.Ser2913=) c.8664C>T (p.Ser2888=) c.8364C>T (p.Ser2788=) c.5628C>T (p.Ser1876=) c.4521C>T (p.Ser1507=) c.8547C>T (p.Ser2849=) c.4299C>T (p.Ser1433=) c.7527C>T (p.Ser2509=) | ClinVar dbSNP |
8 | g.99819458C>A | CA371776192 | VPS13B | c.8743C>A (p.Leu2915Ile) n.8813C>A c.*4425C>A (n.*4425C>A) c.8668C>A (p.Leu2890Ile) c.8740C>A (p.Leu2914Ile) c.8665C>A (p.Leu2889Ile) c.8365C>A (p.Leu2789Ile) c.5629C>A (p.Leu1877Ile) c.4522C>A (p.Leu1508Ile) c.8548C>A (p.Leu2850Ile) c.4300C>A (p.Leu1434Ile) c.7528C>A (p.Leu2510Ile) | |
8 | g.99819458C>G | CA4824523 | VPS13B | c.8743C>G (p.Leu2915Val) n.8813C>G c.*4425C>G (n.*4425C>G) c.8668C>G (p.Leu2890Val) c.8740C>G (p.Leu2914Val) c.8665C>G (p.Leu2889Val) c.8365C>G (p.Leu2789Val) c.5629C>G (p.Leu1877Val) c.4522C>G (p.Leu1508Val) c.8548C>G (p.Leu2850Val) c.4300C>G (p.Leu1434Val) c.7528C>G (p.Leu2510Val) | dbSNP ExAC gnomAD v2 |
8 | g.99819458C>T | CA371776194 | VPS13B | c.8743C>T (p.Leu2915Phe) n.8813C>T c.*4425C>T (n.*4425C>T) c.8668C>T (p.Leu2890Phe) c.8740C>T (p.Leu2914Phe) c.8665C>T (p.Leu2889Phe) c.8365C>T (p.Leu2789Phe) c.5629C>T (p.Leu1877Phe) c.4522C>T (p.Leu1508Phe) c.8548C>T (p.Leu2850Phe) c.4300C>T (p.Leu1434Phe) c.7528C>T (p.Leu2510Phe) | |
8 | g.99819459T>A | CA371776196 | VPS13B | c.8744T>A (p.Leu2915His) n.8814T>A c.*4426T>A (n.*4426T>A) c.8669T>A (p.Leu2890His) c.8741T>A (p.Leu2914His) c.8666T>A (p.Leu2889His) c.8366T>A (p.Leu2789His) c.5630T>A (p.Leu1877His) c.4523T>A (p.Leu1508His) c.8549T>A (p.Leu2850His) c.4301T>A (p.Leu1434His) c.7529T>A (p.Leu2510His) | |
8 | g.99819459T>C | CA371776198 | VPS13B | c.8744T>C (p.Leu2915Pro) n.8814T>C c.*4426T>C (n.*4426T>C) c.8669T>C (p.Leu2890Pro) c.8741T>C (p.Leu2914Pro) c.8666T>C (p.Leu2889Pro) c.8366T>C (p.Leu2789Pro) c.5630T>C (p.Leu1877Pro) c.4523T>C (p.Leu1508Pro) c.8549T>C (p.Leu2850Pro) c.4301T>C (p.Leu1434Pro) c.7529T>C (p.Leu2510Pro) | |
8 | g.99819459T>G | CA371776199 | VPS13B | c.8744T>G (p.Leu2915Arg) n.8814T>G c.*4426T>G (n.*4426T>G) c.8669T>G (p.Leu2890Arg) c.8741T>G (p.Leu2914Arg) c.8666T>G (p.Leu2889Arg) c.8366T>G (p.Leu2789Arg) c.5630T>G (p.Leu1877Arg) c.4523T>G (p.Leu1508Arg) c.8549T>G (p.Leu2850Arg) c.4301T>G (p.Leu1434Arg) c.7529T>G (p.Leu2510Arg) | |
8 | g.99819460C>A | CA462339465 | VPS13B | c.8745C>A (p.Leu2915=) n.8815C>A c.*4427C>A (n.*4427C>A) c.8670C>A (p.Leu2890=) c.8742C>A (p.Leu2914=) c.8667C>A (p.Leu2889=) c.8367C>A (p.Leu2789=) c.5631C>A (p.Leu1877=) c.4524C>A (p.Leu1508=) c.8550C>A (p.Leu2850=) c.4302C>A (p.Leu1434=) c.7530C>A (p.Leu2510=) | |
8 | g.99819460C>G | CA462339466 | VPS13B | c.8745C>G (p.Leu2915=) n.8815C>G c.*4427C>G (n.*4427C>G) c.8670C>G (p.Leu2890=) c.8742C>G (p.Leu2914=) c.8667C>G (p.Leu2889=) c.8367C>G (p.Leu2789=) c.5631C>G (p.Leu1877=) c.4524C>G (p.Leu1508=) c.8550C>G (p.Leu2850=) c.4302C>G (p.Leu1434=) c.7530C>G (p.Leu2510=) | |
8 | g.99819460C>T | CA462339467 | VPS13B | c.8745C>T (p.Leu2915=) n.8815C>T c.*4427C>T (n.*4427C>T) c.8670C>T (p.Leu2890=) c.8742C>T (p.Leu2914=) c.8667C>T (p.Leu2889=) c.8367C>T (p.Leu2789=) c.5631C>T (p.Leu1877=) c.4524C>T (p.Leu1508=) c.8550C>T (p.Leu2850=) c.4302C>T (p.Leu1434=) c.7530C>T (p.Leu2510=) | COSMIC |
8 | g.99819461A>C | CA371776202 | VPS13B | c.8746A>C (p.Ile2916Leu) n.8816A>C c.*4428A>C (n.*4428A>C) c.8671A>C (p.Ile2891Leu) c.8743A>C (p.Ile2915Leu) c.8668A>C (p.Ile2890Leu) c.8368A>C (p.Ile2790Leu) c.5632A>C (p.Ile1878Leu) c.4525A>C (p.Ile1509Leu) c.8551A>C (p.Ile2851Leu) c.4303A>C (p.Ile1435Leu) c.7531A>C (p.Ile2511Leu) | |
8 | g.99819461A>G | CA371776205 | VPS13B | c.8746A>G (p.Ile2916Val) n.8816A>G c.*4428A>G (n.*4428A>G) c.8671A>G (p.Ile2891Val) c.8743A>G (p.Ile2915Val) c.8668A>G (p.Ile2890Val) c.8368A>G (p.Ile2790Val) c.5632A>G (p.Ile1878Val) c.4525A>G (p.Ile1509Val) c.8551A>G (p.Ile2851Val) c.4303A>G (p.Ile1435Val) c.7531A>G (p.Ile2511Val) | ClinVar dbSNP |
8 | g.99819461A>T | CA371776204 | VPS13B | c.8746A>T (p.Ile2916Phe) n.8816A>T c.*4428A>T (n.*4428A>T) c.8671A>T (p.Ile2891Phe) c.8743A>T (p.Ile2915Phe) c.8668A>T (p.Ile2890Phe) c.8368A>T (p.Ile2790Phe) c.5632A>T (p.Ile1878Phe) c.4525A>T (p.Ile1509Phe) c.8551A>T (p.Ile2851Phe) c.4303A>T (p.Ile1435Phe) c.7531A>T (p.Ile2511Phe) | |
8 | g.99819462T>A | CA371776207 | VPS13B | c.8747T>A (p.Ile2916Asn) n.8817T>A c.*4429T>A (n.*4429T>A) c.8672T>A (p.Ile2891Asn) c.8744T>A (p.Ile2915Asn) c.8669T>A (p.Ile2890Asn) c.8369T>A (p.Ile2790Asn) c.5633T>A (p.Ile1878Asn) c.4526T>A (p.Ile1509Asn) c.8552T>A (p.Ile2851Asn) c.4304T>A (p.Ile1435Asn) c.7532T>A (p.Ile2511Asn) | |
8 | g.99819462T>C | CA371776210 | VPS13B | c.8747T>C (p.Ile2916Thr) n.8817T>C c.*4429T>C (n.*4429T>C) c.8672T>C (p.Ile2891Thr) c.8744T>C (p.Ile2915Thr) c.8669T>C (p.Ile2890Thr) c.8369T>C (p.Ile2790Thr) c.5633T>C (p.Ile1878Thr) c.4526T>C (p.Ile1509Thr) c.8552T>C (p.Ile2851Thr) c.4304T>C (p.Ile1435Thr) c.7532T>C (p.Ile2511Thr) | |
8 | g.99819462T>G | CA371776211 | VPS13B | c.8747T>G (p.Ile2916Ser) n.8817T>G c.*4429T>G (n.*4429T>G) c.8672T>G (p.Ile2891Ser) c.8744T>G (p.Ile2915Ser) c.8669T>G (p.Ile2890Ser) c.8369T>G (p.Ile2790Ser) c.5633T>G (p.Ile1878Ser) c.4526T>G (p.Ile1509Ser) c.8552T>G (p.Ile2851Ser) c.4304T>G (p.Ile1435Ser) c.7532T>G (p.Ile2511Ser) | dbSNP gnomAD v4 |
8 | g.99819463T>A | CA462339468 | VPS13B | c.8748T>A (p.Ile2916=) n.8818T>A c.*4430T>A (n.*4430T>A) c.8673T>A (p.Ile2891=) c.8745T>A (p.Ile2915=) c.8670T>A (p.Ile2890=) c.8370T>A (p.Ile2790=) c.5634T>A (p.Ile1878=) c.4527T>A (p.Ile1509=) c.8553T>A (p.Ile2851=) c.4305T>A (p.Ile1435=) c.7533T>A (p.Ile2511=) | |
8 | g.99819463T>C | CA462339469 | VPS13B | c.8748T>C (p.Ile2916=) n.8818T>C c.*4430T>C (n.*4430T>C) c.8673T>C (p.Ile2891=) c.8745T>C (p.Ile2915=) c.8670T>C (p.Ile2890=) c.8370T>C (p.Ile2790=) c.5634T>C (p.Ile1878=) c.4527T>C (p.Ile1509=) c.8553T>C (p.Ile2851=) c.4305T>C (p.Ile1435=) c.7533T>C (p.Ile2511=) | |
8 | g.99819463T>G | CA371776213 | VPS13B | c.8748T>G (p.Ile2916Met) n.8818T>G c.*4430T>G (n.*4430T>G) c.8673T>G (p.Ile2891Met) c.8745T>G (p.Ile2915Met) c.8670T>G (p.Ile2890Met) c.8370T>G (p.Ile2790Met) c.5634T>G (p.Ile1878Met) c.4527T>G (p.Ile1509Met) c.8553T>G (p.Ile2851Met) c.4305T>G (p.Ile1435Met) c.7533T>G (p.Ile2511Met) | |
8 | g.99819464A>C | CA371776216 | VPS13B | c.8749A>C (p.Lys2917Gln) n.8819A>C c.*4431A>C (n.*4431A>C) c.8674A>C (p.Lys2892Gln) c.8746A>C (p.Lys2916Gln) c.8671A>C (p.Lys2891Gln) c.8371A>C (p.Lys2791Gln) c.5635A>C (p.Lys1879Gln) c.4528A>C (p.Lys1510Gln) c.8554A>C (p.Lys2852Gln) c.4306A>C (p.Lys1436Gln) c.7534A>C (p.Lys2512Gln) | |
8 | g.99819464A>G | CA371776217 | VPS13B | c.8749A>G (p.Lys2917Glu) n.8819A>G c.*4431A>G (n.*4431A>G) c.8674A>G (p.Lys2892Glu) c.8746A>G (p.Lys2916Glu) c.8671A>G (p.Lys2891Glu) c.8371A>G (p.Lys2791Glu) c.5635A>G (p.Lys1879Glu) c.4528A>G (p.Lys1510Glu) c.8554A>G (p.Lys2852Glu) c.4306A>G (p.Lys1436Glu) c.7534A>G (p.Lys2512Glu) | gnomAD v4 |
8 | g.99819464A>T | CA371776219 | VPS13B | c.8749A>T (p.Lys2917Ter) n.8819A>T c.*4431A>T (n.*4431A>T) c.8674A>T (p.Lys2892Ter) c.8746A>T (p.Lys2916Ter) c.8671A>T (p.Lys2891Ter) c.8371A>T (p.Lys2791Ter) c.5635A>T (p.Lys1879Ter) c.4528A>T (p.Lys1510Ter) c.8554A>T (p.Lys2852Ter) c.4306A>T (p.Lys1436Ter) c.7534A>T (p.Lys2512Ter) | |
8 | g.99819465A>C | CA371776221 | VPS13B | c.8750A>C (p.Lys2917Thr) n.8820A>C c.*4432A>C (n.*4432A>C) c.8675A>C (p.Lys2892Thr) c.8747A>C (p.Lys2916Thr) c.8672A>C (p.Lys2891Thr) c.8372A>C (p.Lys2791Thr) c.5636A>C (p.Lys1879Thr) c.4529A>C (p.Lys1510Thr) c.8555A>C (p.Lys2852Thr) c.4307A>C (p.Lys1436Thr) c.7535A>C (p.Lys2512Thr) | |
8 | g.99819465A>G | CA371776223 | VPS13B | c.8750A>G (p.Lys2917Arg) n.8820A>G c.*4432A>G (n.*4432A>G) c.8675A>G (p.Lys2892Arg) c.8747A>G (p.Lys2916Arg) c.8672A>G (p.Lys2891Arg) c.8372A>G (p.Lys2791Arg) c.5636A>G (p.Lys1879Arg) c.4529A>G (p.Lys1510Arg) c.8555A>G (p.Lys2852Arg) c.4307A>G (p.Lys1436Arg) c.7535A>G (p.Lys2512Arg) | gnomAD v4 |
8 | g.99819465A>T | CA371776225 | VPS13B | c.8750A>T (p.Lys2917Met) n.8820A>T c.*4432A>T (n.*4432A>T) c.8675A>T (p.Lys2892Met) c.8747A>T (p.Lys2916Met) c.8672A>T (p.Lys2891Met) c.8372A>T (p.Lys2791Met) c.5636A>T (p.Lys1879Met) c.4529A>T (p.Lys1510Met) c.8555A>T (p.Lys2852Met) c.4307A>T (p.Lys1436Met) c.7535A>T (p.Lys2512Met) | |
8 | g.99819466G>A | CA462339470 | VPS13B | c.8751G>A (p.Lys2917=) n.8821G>A c.*4433G>A (n.*4433G>A) c.8676G>A (p.Lys2892=) c.8748G>A (p.Lys2916=) c.8673G>A (p.Lys2891=) c.8373G>A (p.Lys2791=) c.5637G>A (p.Lys1879=) c.4530G>A (p.Lys1510=) c.8556G>A (p.Lys2852=) c.4308G>A (p.Lys1436=) c.7536G>A (p.Lys2512=) | |
8 | g.99819466G>C | CA371776229 | VPS13B | c.8751G>C (p.Lys2917Asn) n.8821G>C c.*4433G>C (n.*4433G>C) c.8676G>C (p.Lys2892Asn) c.8748G>C (p.Lys2916Asn) c.8673G>C (p.Lys2891Asn) c.8373G>C (p.Lys2791Asn) c.5637G>C (p.Lys1879Asn) c.4530G>C (p.Lys1510Asn) c.8556G>C (p.Lys2852Asn) c.4308G>C (p.Lys1436Asn) c.7536G>C (p.Lys2512Asn) | |
8 | g.99819466G>T | CA371776227 | VPS13B | c.8751G>T (p.Lys2917Asn) n.8821G>T c.*4433G>T (n.*4433G>T) c.8676G>T (p.Lys2892Asn) c.8748G>T (p.Lys2916Asn) c.8673G>T (p.Lys2891Asn) c.8373G>T (p.Lys2791Asn) c.5637G>T (p.Lys1879Asn) c.4530G>T (p.Lys1510Asn) c.8556G>T (p.Lys2852Asn) c.4308G>T (p.Lys1436Asn) c.7536G>T (p.Lys2512Asn) | |
8 | g.99819467C>A | CA182328672 | VPS13B | c.8752C>A (p.Gln2918Lys) n.8822C>A c.*4434C>A (n.*4434C>A) c.8677C>A (p.Gln2893Lys) c.8749C>A (p.Gln2917Lys) c.8674C>A (p.Gln2892Lys) c.8374C>A (p.Gln2792Lys) c.5638C>A (p.Gln1880Lys) c.4531C>A (p.Gln1511Lys) c.8557C>A (p.Gln2853Lys) c.4309C>A (p.Gln1437Lys) c.7537C>A (p.Gln2513Lys) | dbSNP |
8 | g.99819467C>G | CA371776234 | VPS13B | c.8752C>G (p.Gln2918Glu) n.8822C>G c.*4434C>G (n.*4434C>G) c.8677C>G (p.Gln2893Glu) c.8749C>G (p.Gln2917Glu) c.8674C>G (p.Gln2892Glu) c.8374C>G (p.Gln2792Glu) c.5638C>G (p.Gln1880Glu) c.4531C>G (p.Gln1511Glu) c.8557C>G (p.Gln2853Glu) c.4309C>G (p.Gln1437Glu) c.7537C>G (p.Gln2513Glu) | |
8 | g.99819467C>T | CA371776232 | VPS13B | c.8752C>T (p.Gln2918Ter) n.8822C>T c.*4434C>T (n.*4434C>T) c.8677C>T (p.Gln2893Ter) c.8749C>T (p.Gln2917Ter) c.8674C>T (p.Gln2892Ter) c.8374C>T (p.Gln2792Ter) c.5638C>T (p.Gln1880Ter) c.4531C>T (p.Gln1511Ter) c.8557C>T (p.Gln2853Ter) c.4309C>T (p.Gln1437Ter) c.7537C>T (p.Gln2513Ter) | |
8 | g.99819468A>C | CA371776236 | VPS13B | c.8753A>C (p.Gln2918Pro) n.8823A>C c.*4435A>C (n.*4435A>C) c.8678A>C (p.Gln2893Pro) c.8750A>C (p.Gln2917Pro) c.8675A>C (p.Gln2892Pro) c.8375A>C (p.Gln2792Pro) c.5639A>C (p.Gln1880Pro) c.4532A>C (p.Gln1511Pro) c.8558A>C (p.Gln2853Pro) c.4310A>C (p.Gln1437Pro) c.7538A>C (p.Gln2513Pro) | |
8 | g.99819468A>G | CA371776239 | VPS13B | c.8753A>G (p.Gln2918Arg) n.8823A>G c.*4435A>G (n.*4435A>G) c.8678A>G (p.Gln2893Arg) c.8750A>G (p.Gln2917Arg) c.8675A>G (p.Gln2892Arg) c.8375A>G (p.Gln2792Arg) c.5639A>G (p.Gln1880Arg) c.4532A>G (p.Gln1511Arg) c.8558A>G (p.Gln2853Arg) c.4310A>G (p.Gln1437Arg) c.7538A>G (p.Gln2513Arg) | |
8 | g.99819468A>T | CA371776238 | VPS13B | c.8753A>T (p.Gln2918Leu) n.8823A>T c.*4435A>T (n.*4435A>T) c.8678A>T (p.Gln2893Leu) c.8750A>T (p.Gln2917Leu) c.8675A>T (p.Gln2892Leu) c.8375A>T (p.Gln2792Leu) c.5639A>T (p.Gln1880Leu) c.4532A>T (p.Gln1511Leu) c.8558A>T (p.Gln2853Leu) c.4310A>T (p.Gln1437Leu) c.7538A>T (p.Gln2513Leu) | |
8 | g.99819469A>C | CA371776241 | VPS13B | c.8754A>C (p.Gln2918His) n.8824A>C c.*4436A>C (n.*4436A>C) c.8679A>C (p.Gln2893His) c.8751A>C (p.Gln2917His) c.8676A>C (p.Gln2892His) c.8376A>C (p.Gln2792His) c.5640A>C (p.Gln1880His) c.4533A>C (p.Gln1511His) c.8559A>C (p.Gln2853His) c.4311A>C (p.Gln1437His) c.7539A>C (p.Gln2513His) | |
8 | g.99819469A>G | CA462339471 | VPS13B | c.8754A>G (p.Gln2918=) n.8824A>G c.*4436A>G (n.*4436A>G) c.8679A>G (p.Gln2893=) c.8751A>G (p.Gln2917=) c.8676A>G (p.Gln2892=) c.8376A>G (p.Gln2792=) c.5640A>G (p.Gln1880=) c.4533A>G (p.Gln1511=) c.8559A>G (p.Gln2853=) c.4311A>G (p.Gln1437=) c.7539A>G (p.Gln2513=) | gnomAD v4 |
8 | g.99819469A>T | CA371776242 | VPS13B | c.8754A>T (p.Gln2918His) n.8824A>T c.*4436A>T (n.*4436A>T) c.8679A>T (p.Gln2893His) c.8751A>T (p.Gln2917His) c.8676A>T (p.Gln2892His) c.8376A>T (p.Gln2792His) c.5640A>T (p.Gln1880His) c.4533A>T (p.Gln1511His) c.8559A>T (p.Gln2853His) c.4311A>T (p.Gln1437His) c.7539A>T (p.Gln2513His) | |
8 | g.99819470A>C | CA371776244 | VPS13B | c.8755A>C (p.Ile2919Leu) n.8825A>C c.*4437A>C (n.*4437A>C) c.8680A>C (p.Ile2894Leu) c.8752A>C (p.Ile2918Leu) c.8677A>C (p.Ile2893Leu) c.8377A>C (p.Ile2793Leu) c.5641A>C (p.Ile1881Leu) c.4534A>C (p.Ile1512Leu) c.8560A>C (p.Ile2854Leu) c.4312A>C (p.Ile1438Leu) c.7540A>C (p.Ile2514Leu) | |
8 | g.99819470A>G | CA371776246 | VPS13B | c.8755A>G (p.Ile2919Val) n.8825A>G c.*4437A>G (n.*4437A>G) c.8680A>G (p.Ile2894Val) c.8752A>G (p.Ile2918Val) c.8677A>G (p.Ile2893Val) c.8377A>G (p.Ile2793Val) c.5641A>G (p.Ile1881Val) c.4534A>G (p.Ile1512Val) c.8560A>G (p.Ile2854Val) c.4312A>G (p.Ile1438Val) c.7540A>G (p.Ile2514Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819470A>T | CA371776248 | VPS13B | c.8755A>T (p.Ile2919Leu) n.8825A>T c.*4437A>T (n.*4437A>T) c.8680A>T (p.Ile2894Leu) c.8752A>T (p.Ile2918Leu) c.8677A>T (p.Ile2893Leu) c.8377A>T (p.Ile2793Leu) c.5641A>T (p.Ile1881Leu) c.4534A>T (p.Ile1512Leu) c.8560A>T (p.Ile2854Leu) c.4312A>T (p.Ile1438Leu) c.7540A>T (p.Ile2514Leu) | |
8 | g.99819471T>A | CA371776251 | VPS13B | c.8756T>A (p.Ile2919Lys) n.8826T>A c.*4438T>A (n.*4438T>A) c.8681T>A (p.Ile2894Lys) c.8753T>A (p.Ile2918Lys) c.8678T>A (p.Ile2893Lys) c.8378T>A (p.Ile2793Lys) c.5642T>A (p.Ile1881Lys) c.4535T>A (p.Ile1512Lys) c.8561T>A (p.Ile2854Lys) c.4313T>A (p.Ile1438Lys) c.7541T>A (p.Ile2514Lys) | |
8 | g.99819471T>C | CA371776252 | VPS13B | c.8756T>C (p.Ile2919Thr) n.8826T>C c.*4438T>C (n.*4438T>C) c.8681T>C (p.Ile2894Thr) c.8753T>C (p.Ile2918Thr) c.8678T>C (p.Ile2893Thr) c.8378T>C (p.Ile2793Thr) c.5642T>C (p.Ile1881Thr) c.4535T>C (p.Ile1512Thr) c.8561T>C (p.Ile2854Thr) c.4313T>C (p.Ile1438Thr) c.7541T>C (p.Ile2514Thr) | gnomAD v4 |
8 | g.99819471T>G | CA371776254 | VPS13B | c.8756T>G (p.Ile2919Arg) n.8826T>G c.*4438T>G (n.*4438T>G) c.8681T>G (p.Ile2894Arg) c.8753T>G (p.Ile2918Arg) c.8678T>G (p.Ile2893Arg) c.8378T>G (p.Ile2793Arg) c.5642T>G (p.Ile1881Arg) c.4535T>G (p.Ile1512Arg) c.8561T>G (p.Ile2854Arg) c.4313T>G (p.Ile1438Arg) c.7541T>G (p.Ile2514Arg) | gnomAD v4 |
8 | g.99819472A>C | CA462339472 | VPS13B | c.8757A>C (p.Ile2919=) n.8827A>C c.*4439A>C (n.*4439A>C) c.8682A>C (p.Ile2894=) c.8754A>C (p.Ile2918=) c.8679A>C (p.Ile2893=) c.8379A>C (p.Ile2793=) c.5643A>C (p.Ile1881=) c.4536A>C (p.Ile1512=) c.8562A>C (p.Ile2854=) c.4314A>C (p.Ile1438=) c.7542A>C (p.Ile2514=) | |
8 | g.99819472A>G | CA371776257 | VPS13B | c.8757A>G (p.Ile2919Met) n.8827A>G c.*4439A>G (n.*4439A>G) c.8682A>G (p.Ile2894Met) c.8754A>G (p.Ile2918Met) c.8679A>G (p.Ile2893Met) c.8379A>G (p.Ile2793Met) c.5643A>G (p.Ile1881Met) c.4536A>G (p.Ile1512Met) c.8562A>G (p.Ile2854Met) c.4314A>G (p.Ile1438Met) c.7542A>G (p.Ile2514Met) | |
8 | g.99819472A>T | CA462339473 | VPS13B | c.8757A>T (p.Ile2919=) n.8827A>T c.*4439A>T (n.*4439A>T) c.8682A>T (p.Ile2894=) c.8754A>T (p.Ile2918=) c.8679A>T (p.Ile2893=) c.8379A>T (p.Ile2793=) c.5643A>T (p.Ile1881=) c.4536A>T (p.Ile1512=) c.8562A>T (p.Ile2854=) c.4314A>T (p.Ile1438=) c.7542A>T (p.Ile2514=) | |
8 | g.99819473G>A | CA371776259 | VPS13B | c.8758G>A (p.Ala2920Thr) n.8828G>A c.*4440G>A (n.*4440G>A) c.8683G>A (p.Ala2895Thr) c.8755G>A (p.Ala2919Thr) c.8680G>A (p.Ala2894Thr) c.8380G>A (p.Ala2794Thr) c.5644G>A (p.Ala1882Thr) c.4537G>A (p.Ala1513Thr) c.8563G>A (p.Ala2855Thr) c.4315G>A (p.Ala1439Thr) c.7543G>A (p.Ala2515Thr) | |
8 | g.99819473G>C | CA371776261 | VPS13B | c.8758G>C (p.Ala2920Pro) n.8828G>C c.*4440G>C (n.*4440G>C) c.8683G>C (p.Ala2895Pro) c.8755G>C (p.Ala2919Pro) c.8680G>C (p.Ala2894Pro) c.8380G>C (p.Ala2794Pro) c.5644G>C (p.Ala1882Pro) c.4537G>C (p.Ala1513Pro) c.8563G>C (p.Ala2855Pro) c.4315G>C (p.Ala1439Pro) c.7543G>C (p.Ala2515Pro) | |
8 | g.99819473G>T | CA371776263 | VPS13B | c.8758G>T (p.Ala2920Ser) n.8828G>T c.*4440G>T (n.*4440G>T) c.8683G>T (p.Ala2895Ser) c.8755G>T (p.Ala2919Ser) c.8680G>T (p.Ala2894Ser) c.8380G>T (p.Ala2794Ser) c.5644G>T (p.Ala1882Ser) c.4537G>T (p.Ala1513Ser) c.8563G>T (p.Ala2855Ser) c.4315G>T (p.Ala1439Ser) c.7543G>T (p.Ala2515Ser) | gnomAD v4 |
8 | g.99819474C>A | CA371776268 | VPS13B | c.8759C>A (p.Ala2920Asp) n.8829C>A c.*4441C>A (n.*4441C>A) c.8684C>A (p.Ala2895Asp) c.8756C>A (p.Ala2919Asp) c.8681C>A (p.Ala2894Asp) c.8381C>A (p.Ala2794Asp) c.5645C>A (p.Ala1882Asp) c.4538C>A (p.Ala1513Asp) c.8564C>A (p.Ala2855Asp) c.4316C>A (p.Ala1439Asp) c.7544C>A (p.Ala2515Asp) | gnomAD v4 |
8 | g.99819474C>G | CA371776264 | VPS13B | c.8759C>G (p.Ala2920Gly) n.8829C>G c.*4441C>G (n.*4441C>G) c.8684C>G (p.Ala2895Gly) c.8756C>G (p.Ala2919Gly) c.8681C>G (p.Ala2894Gly) c.8381C>G (p.Ala2794Gly) c.5645C>G (p.Ala1882Gly) c.4538C>G (p.Ala1513Gly) c.8564C>G (p.Ala2855Gly) c.4316C>G (p.Ala1439Gly) c.7544C>G (p.Ala2515Gly) | |
8 | g.99819474C>T | CA371776266 | VPS13B | c.8759C>T (p.Ala2920Val) n.8829C>T c.*4441C>T (n.*4441C>T) c.8684C>T (p.Ala2895Val) c.8756C>T (p.Ala2919Val) c.8681C>T (p.Ala2894Val) c.8381C>T (p.Ala2794Val) c.5645C>T (p.Ala1882Val) c.4538C>T (p.Ala1513Val) c.8564C>T (p.Ala2855Val) c.4316C>T (p.Ala1439Val) c.7544C>T (p.Ala2515Val) | |
8 | g.99819475C>A | CA462339474 | VPS13B | c.8760C>A (p.Ala2920=) n.8830C>A c.*4442C>A (n.*4442C>A) c.8685C>A (p.Ala2895=) c.8757C>A (p.Ala2919=) c.8682C>A (p.Ala2894=) c.8382C>A (p.Ala2794=) c.5646C>A (p.Ala1882=) c.4539C>A (p.Ala1513=) c.8565C>A (p.Ala2855=) c.4317C>A (p.Ala1439=) c.7545C>A (p.Ala2515=) | |
8 | g.99819475C>G | CA462339475 | VPS13B | c.8760C>G (p.Ala2920=) n.8830C>G c.*4442C>G (n.*4442C>G) c.8685C>G (p.Ala2895=) c.8757C>G (p.Ala2919=) c.8682C>G (p.Ala2894=) c.8382C>G (p.Ala2794=) c.5646C>G (p.Ala1882=) c.4539C>G (p.Ala1513=) c.8565C>G (p.Ala2855=) c.4317C>G (p.Ala1439=) c.7545C>G (p.Ala2515=) | |
8 | g.99819475C>T | CA462339476 | VPS13B | c.8760C>T (p.Ala2920=) n.8830C>T c.*4442C>T (n.*4442C>T) c.8685C>T (p.Ala2895=) c.8757C>T (p.Ala2919=) c.8682C>T (p.Ala2894=) c.8382C>T (p.Ala2794=) c.5646C>T (p.Ala1882=) c.4539C>T (p.Ala1513=) c.8565C>T (p.Ala2855=) c.4317C>T (p.Ala1439=) c.7545C>T (p.Ala2515=) | |
8 | g.99819476A>C | CA371776269 | VPS13B | c.8761A>C (p.Thr2921Pro) n.8831A>C c.*4443A>C (n.*4443A>C) c.8686A>C (p.Thr2896Pro) c.8758A>C (p.Thr2920Pro) c.8683A>C (p.Thr2895Pro) c.8383A>C (p.Thr2795Pro) c.5647A>C (p.Thr1883Pro) c.4540A>C (p.Thr1514Pro) c.8566A>C (p.Thr2856Pro) c.4318A>C (p.Thr1440Pro) c.7546A>C (p.Thr2516Pro) | |
8 | g.99819476A>G | CA371776271 | VPS13B | c.8761A>G (p.Thr2921Ala) n.8831A>G c.*4443A>G (n.*4443A>G) c.8686A>G (p.Thr2896Ala) c.8758A>G (p.Thr2920Ala) c.8683A>G (p.Thr2895Ala) c.8383A>G (p.Thr2795Ala) c.5647A>G (p.Thr1883Ala) c.4540A>G (p.Thr1514Ala) c.8566A>G (p.Thr2856Ala) c.4318A>G (p.Thr1440Ala) c.7546A>G (p.Thr2516Ala) | |
8 | g.99819476A>T | CA371776273 | VPS13B | c.8761A>T (p.Thr2921Ser) n.8831A>T c.*4443A>T (n.*4443A>T) c.8686A>T (p.Thr2896Ser) c.8758A>T (p.Thr2920Ser) c.8683A>T (p.Thr2895Ser) c.8383A>T (p.Thr2795Ser) c.5647A>T (p.Thr1883Ser) c.4540A>T (p.Thr1514Ser) c.8566A>T (p.Thr2856Ser) c.4318A>T (p.Thr1440Ser) c.7546A>T (p.Thr2516Ser) | |
8 | g.99819477C>A | CA371776275 | VPS13B | c.8762C>A (p.Thr2921Asn) n.8832C>A c.*4444C>A (n.*4444C>A) c.8687C>A (p.Thr2896Asn) c.8759C>A (p.Thr2920Asn) c.8684C>A (p.Thr2895Asn) c.8384C>A (p.Thr2795Asn) c.5648C>A (p.Thr1883Asn) c.4541C>A (p.Thr1514Asn) c.8567C>A (p.Thr2856Asn) c.4319C>A (p.Thr1440Asn) c.7547C>A (p.Thr2516Asn) | |
8 | g.99819477C>G | CA371776277 | VPS13B | c.8762C>G (p.Thr2921Ser) n.8832C>G c.*4444C>G (n.*4444C>G) c.8687C>G (p.Thr2896Ser) c.8759C>G (p.Thr2920Ser) c.8684C>G (p.Thr2895Ser) c.8384C>G (p.Thr2795Ser) c.5648C>G (p.Thr1883Ser) c.4541C>G (p.Thr1514Ser) c.8567C>G (p.Thr2856Ser) c.4319C>G (p.Thr1440Ser) c.7547C>G (p.Thr2516Ser) | |
8 | g.99819477C>T | CA182328678 | VPS13B | c.8762C>T (p.Thr2921Ile) n.8832C>T c.*4444C>T (n.*4444C>T) c.8687C>T (p.Thr2896Ile) c.8759C>T (p.Thr2920Ile) c.8684C>T (p.Thr2895Ile) c.8384C>T (p.Thr2795Ile) c.5648C>T (p.Thr1883Ile) c.4541C>T (p.Thr1514Ile) c.8567C>T (p.Thr2856Ile) c.4319C>T (p.Thr1440Ile) c.7547C>T (p.Thr2516Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819478T>A | CA462339477 | VPS13B | c.8763T>A (p.Thr2921=) n.8833T>A c.*4445T>A (n.*4445T>A) c.8688T>A (p.Thr2896=) c.8760T>A (p.Thr2920=) c.8685T>A (p.Thr2895=) c.8385T>A (p.Thr2795=) c.5649T>A (p.Thr1883=) c.4542T>A (p.Thr1514=) c.8568T>A (p.Thr2856=) c.4320T>A (p.Thr1440=) c.7548T>A (p.Thr2516=) | |
8 | g.99819478T>C | CA462339478 | VPS13B | c.8763T>C (p.Thr2921=) n.8833T>C c.*4445T>C (n.*4445T>C) c.8688T>C (p.Thr2896=) c.8760T>C (p.Thr2920=) c.8685T>C (p.Thr2895=) c.8385T>C (p.Thr2795=) c.5649T>C (p.Thr1883=) c.4542T>C (p.Thr1514=) c.8568T>C (p.Thr2856=) c.4320T>C (p.Thr1440=) c.7548T>C (p.Thr2516=) | |
8 | g.99819478T>G | CA462339479 | VPS13B | c.8763T>G (p.Thr2921=) n.8833T>G c.*4445T>G (n.*4445T>G) c.8688T>G (p.Thr2896=) c.8760T>G (p.Thr2920=) c.8685T>G (p.Thr2895=) c.8385T>G (p.Thr2795=) c.5649T>G (p.Thr1883=) c.4542T>G (p.Thr1514=) c.8568T>G (p.Thr2856=) c.4320T>G (p.Thr1440=) c.7548T>G (p.Thr2516=) | |
8 | g.99819478dup | CA2497231222 | VPS13B | c.8763dup (p.Lys2922Ter) n.8833dup c.*4445dup (n.*4445dup) c.8688dup (p.Lys2897Ter) c.8760dup (p.Lys2921Ter) c.8685dup (p.Lys2896Ter) c.8385dup (p.Lys2796Ter) c.5649dup (p.Lys1884Ter) c.4542dup (p.Lys1515Ter) c.8568dup (p.Lys2857Ter) c.4320dup (p.Lys1441Ter) c.7548dup (p.Lys2517Ter) | dbSNP |
8 | g.99819479A>C | CA371776279 | VPS13B | c.8764A>C (p.Lys2922Gln) n.8834A>C c.*4446A>C (n.*4446A>C) c.8689A>C (p.Lys2897Gln) c.8761A>C (p.Lys2921Gln) c.8686A>C (p.Lys2896Gln) c.8386A>C (p.Lys2796Gln) c.5650A>C (p.Lys1884Gln) c.4543A>C (p.Lys1515Gln) c.8569A>C (p.Lys2857Gln) c.4321A>C (p.Lys1441Gln) c.7549A>C (p.Lys2517Gln) | |
8 | g.99819479A>G | CA371776281 | VPS13B | c.8764A>G (p.Lys2922Glu) n.8834A>G c.*4446A>G (n.*4446A>G) c.8689A>G (p.Lys2897Glu) c.8761A>G (p.Lys2921Glu) c.8686A>G (p.Lys2896Glu) c.8386A>G (p.Lys2796Glu) c.5650A>G (p.Lys1884Glu) c.4543A>G (p.Lys1515Glu) c.8569A>G (p.Lys2857Glu) c.4321A>G (p.Lys1441Glu) c.7549A>G (p.Lys2517Glu) | |
8 | g.99819479A>T | CA371776283 | VPS13B | c.8764A>T (p.Lys2922Ter) n.8834A>T c.*4446A>T (n.*4446A>T) c.8689A>T (p.Lys2897Ter) c.8761A>T (p.Lys2921Ter) c.8686A>T (p.Lys2896Ter) c.8386A>T (p.Lys2796Ter) c.5650A>T (p.Lys1884Ter) c.4543A>T (p.Lys1515Ter) c.8569A>T (p.Lys2857Ter) c.4321A>T (p.Lys1441Ter) c.7549A>T (p.Lys2517Ter) | |
8 | g.99819480A>C | CA371776291 | VPS13B | c.8765A>C (p.Lys2922Thr) n.8835A>C c.*4447A>C (n.*4447A>C) c.8690A>C (p.Lys2897Thr) c.8762A>C (p.Lys2921Thr) c.8687A>C (p.Lys2896Thr) c.8387A>C (p.Lys2796Thr) c.5651A>C (p.Lys1884Thr) c.4544A>C (p.Lys1515Thr) c.8570A>C (p.Lys2857Thr) c.4322A>C (p.Lys1441Thr) c.7550A>C (p.Lys2517Thr) | |
8 | g.99819480A>G | CA371776293 | VPS13B | c.8765A>G (p.Lys2922Arg) n.8835A>G c.*4447A>G (n.*4447A>G) c.8690A>G (p.Lys2897Arg) c.8762A>G (p.Lys2921Arg) c.8687A>G (p.Lys2896Arg) c.8387A>G (p.Lys2796Arg) c.5651A>G (p.Lys1884Arg) c.4544A>G (p.Lys1515Arg) c.8570A>G (p.Lys2857Arg) c.4322A>G (p.Lys1441Arg) c.7550A>G (p.Lys2517Arg) | |
8 | g.99819480A>T | CA371776295 | VPS13B | c.8765A>T (p.Lys2922Met) n.8835A>T c.*4447A>T (n.*4447A>T) c.8690A>T (p.Lys2897Met) c.8762A>T (p.Lys2921Met) c.8687A>T (p.Lys2896Met) c.8387A>T (p.Lys2796Met) c.5651A>T (p.Lys1884Met) c.4544A>T (p.Lys1515Met) c.8570A>T (p.Lys2857Met) c.4322A>T (p.Lys1441Met) c.7550A>T (p.Lys2517Met) | COSMIC COSMIC |
8 | g.99819481G>A | CA462339480 | VPS13B | c.8766G>A (p.Lys2922=) n.8836G>A c.*4448G>A (n.*4448G>A) c.8691G>A (p.Lys2897=) c.8763G>A (p.Lys2921=) c.8688G>A (p.Lys2896=) c.8388G>A (p.Lys2796=) c.5652G>A (p.Lys1884=) c.4545G>A (p.Lys1515=) c.8571G>A (p.Lys2857=) c.4323G>A (p.Lys1441=) c.7551G>A (p.Lys2517=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819481G>C | CA371776298 | VPS13B | c.8766G>C (p.Lys2922Asn) n.8836G>C c.*4448G>C (n.*4448G>C) c.8691G>C (p.Lys2897Asn) c.8763G>C (p.Lys2921Asn) c.8688G>C (p.Lys2896Asn) c.8388G>C (p.Lys2796Asn) c.5652G>C (p.Lys1884Asn) c.4545G>C (p.Lys1515Asn) c.8571G>C (p.Lys2857Asn) c.4323G>C (p.Lys1441Asn) c.7551G>C (p.Lys2517Asn) | gnomAD v4 |
8 | g.99819481G>T | CA371776299 | VPS13B | c.8766G>T (p.Lys2922Asn) n.8836G>T c.*4448G>T (n.*4448G>T) c.8691G>T (p.Lys2897Asn) c.8763G>T (p.Lys2921Asn) c.8688G>T (p.Lys2896Asn) c.8388G>T (p.Lys2796Asn) c.5652G>T (p.Lys1884Asn) c.4545G>T (p.Lys1515Asn) c.8571G>T (p.Lys2857Asn) c.4323G>T (p.Lys1441Asn) c.7551G>T (p.Lys2517Asn) | |
8 | g.99819482G>A | CA182328680 | VPS13B | c.8767G>A (p.Val2923Ile) n.8837G>A c.*4449G>A (n.*4449G>A) c.8692G>A (p.Val2898Ile) c.8764G>A (p.Val2922Ile) c.8689G>A (p.Val2897Ile) c.8389G>A (p.Val2797Ile) c.5653G>A (p.Val1885Ile) c.4546G>A (p.Val1516Ile) c.8572G>A (p.Val2858Ile) c.4324G>A (p.Val1442Ile) c.7552G>A (p.Val2518Ile) | ClinVar dbSNP gnomAD v4 |
8 | g.99819482G>C | CA371776303 | VPS13B | c.8767G>C (p.Val2923Leu) n.8837G>C c.*4449G>C (n.*4449G>C) c.8692G>C (p.Val2898Leu) c.8764G>C (p.Val2922Leu) c.8689G>C (p.Val2897Leu) c.8389G>C (p.Val2797Leu) c.5653G>C (p.Val1885Leu) c.4546G>C (p.Val1516Leu) c.8572G>C (p.Val2858Leu) c.4324G>C (p.Val1442Leu) c.7552G>C (p.Val2518Leu) | |
8 | g.99819482G>T | CA371776304 | VPS13B | c.8767G>T (p.Val2923Leu) n.8837G>T c.*4449G>T (n.*4449G>T) c.8692G>T (p.Val2898Leu) c.8764G>T (p.Val2922Leu) c.8689G>T (p.Val2897Leu) c.8389G>T (p.Val2797Leu) c.5653G>T (p.Val1885Leu) c.4546G>T (p.Val1516Leu) c.8572G>T (p.Val2858Leu) c.4324G>T (p.Val1442Leu) c.7552G>T (p.Val2518Leu) | |
8 | g.99819483T>A | CA371776307 | VPS13B | c.8768T>A (p.Val2923Glu) n.8838T>A c.*4450T>A (n.*4450T>A) c.8693T>A (p.Val2898Glu) c.8765T>A (p.Val2922Glu) c.8690T>A (p.Val2897Glu) c.8390T>A (p.Val2797Glu) c.5654T>A (p.Val1885Glu) c.4547T>A (p.Val1516Glu) c.8573T>A (p.Val2858Glu) c.4325T>A (p.Val1442Glu) c.7553T>A (p.Val2518Glu) | |
8 | g.99819483T>C | CA371776309 | VPS13B | c.8768T>C (p.Val2923Ala) n.8838T>C c.*4450T>C (n.*4450T>C) c.8693T>C (p.Val2898Ala) c.8765T>C (p.Val2922Ala) c.8690T>C (p.Val2897Ala) c.8390T>C (p.Val2797Ala) c.5654T>C (p.Val1885Ala) c.4547T>C (p.Val1516Ala) c.8573T>C (p.Val2858Ala) c.4325T>C (p.Val1442Ala) c.7553T>C (p.Val2518Ala) | |
8 | g.99819483T>G | CA371776310 | VPS13B | c.8768T>G (p.Val2923Gly) n.8838T>G c.*4450T>G (n.*4450T>G) c.8693T>G (p.Val2898Gly) c.8765T>G (p.Val2922Gly) c.8690T>G (p.Val2897Gly) c.8390T>G (p.Val2797Gly) c.5654T>G (p.Val1885Gly) c.4547T>G (p.Val1516Gly) c.8573T>G (p.Val2858Gly) c.4325T>G (p.Val1442Gly) c.7553T>G (p.Val2518Gly) | |
8 | g.99819484A>C | CA462339481 | VPS13B | c.8769A>C (p.Val2923=) n.8839A>C c.*4451A>C (n.*4451A>C) c.8694A>C (p.Val2898=) c.8766A>C (p.Val2922=) c.8691A>C (p.Val2897=) c.8391A>C (p.Val2797=) c.5655A>C (p.Val1885=) c.4548A>C (p.Val1516=) c.8574A>C (p.Val2858=) c.4326A>C (p.Val1442=) c.7554A>C (p.Val2518=) | |
8 | g.99819484A>G | CA462339484 | VPS13B | c.8769A>G (p.Val2923=) n.8839A>G c.*4451A>G (n.*4451A>G) c.8694A>G (p.Val2898=) c.8766A>G (p.Val2922=) c.8691A>G (p.Val2897=) c.8391A>G (p.Val2797=) c.5655A>G (p.Val1885=) c.4548A>G (p.Val1516=) c.8574A>G (p.Val2858=) c.4326A>G (p.Val1442=) c.7554A>G (p.Val2518=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819484A>T | CA462339482 | VPS13B | c.8769A>T (p.Val2923=) n.8839A>T c.*4451A>T (n.*4451A>T) c.8694A>T (p.Val2898=) c.8766A>T (p.Val2922=) c.8691A>T (p.Val2897=) c.8391A>T (p.Val2797=) c.5655A>T (p.Val1885=) c.4548A>T (p.Val1516=) c.8574A>T (p.Val2858=) c.4326A>T (p.Val1442=) c.7554A>T (p.Val2518=) | ClinVar |
8 | g.99819485C>A | CA371776312 | VPS13B | c.8770C>A (p.His2924Asn) n.8840C>A c.*4452C>A (n.*4452C>A) c.8695C>A (p.His2899Asn) c.8767C>A (p.His2923Asn) c.8692C>A (p.His2898Asn) c.8392C>A (p.His2798Asn) c.5656C>A (p.His1886Asn) c.4549C>A (p.His1517Asn) c.8575C>A (p.His2859Asn) c.4327C>A (p.His1443Asn) c.7555C>A (p.His2519Asn) | |
8 | g.99819485C>G | CA371776313 | VPS13B | c.8770C>G (p.His2924Asp) n.8840C>G c.*4452C>G (n.*4452C>G) c.8695C>G (p.His2899Asp) c.8767C>G (p.His2923Asp) c.8692C>G (p.His2898Asp) c.8392C>G (p.His2798Asp) c.5656C>G (p.His1886Asp) c.4549C>G (p.His1517Asp) c.8575C>G (p.His2859Asp) c.4327C>G (p.His1443Asp) c.7555C>G (p.His2519Asp) | |
8 | g.99819485C>T | CA182328681 | VPS13B | c.8770C>T (p.His2924Tyr) n.8840C>T c.*4452C>T (n.*4452C>T) c.8695C>T (p.His2899Tyr) c.8767C>T (p.His2923Tyr) c.8692C>T (p.His2898Tyr) c.8392C>T (p.His2798Tyr) c.5656C>T (p.His1886Tyr) c.4549C>T (p.His1517Tyr) c.8575C>T (p.His2859Tyr) c.4327C>T (p.His1443Tyr) c.7555C>T (p.His2519Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819486A>C | CA371776316 | VPS13B | c.8771A>C (p.His2924Pro) n.8841A>C c.*4453A>C (n.*4453A>C) c.8696A>C (p.His2899Pro) c.8768A>C (p.His2923Pro) c.8693A>C (p.His2898Pro) c.8393A>C (p.His2798Pro) c.5657A>C (p.His1886Pro) c.4550A>C (p.His1517Pro) c.8576A>C (p.His2859Pro) c.4328A>C (p.His1443Pro) c.7556A>C (p.His2519Pro) | |
8 | g.99819486A>G | CA371776318 | VPS13B | c.8771A>G (p.His2924Arg) n.8841A>G c.*4453A>G (n.*4453A>G) c.8696A>G (p.His2899Arg) c.8768A>G (p.His2923Arg) c.8693A>G (p.His2898Arg) c.8393A>G (p.His2798Arg) c.5657A>G (p.His1886Arg) c.4550A>G (p.His1517Arg) c.8576A>G (p.His2859Arg) c.4328A>G (p.His1443Arg) c.7556A>G (p.His2519Arg) | |
8 | g.99819486A>T | CA371776320 | VPS13B | c.8771A>T (p.His2924Leu) n.8841A>T c.*4453A>T (n.*4453A>T) c.8696A>T (p.His2899Leu) c.8768A>T (p.His2923Leu) c.8693A>T (p.His2898Leu) c.8393A>T (p.His2798Leu) c.5657A>T (p.His1886Leu) c.4550A>T (p.His1517Leu) c.8576A>T (p.His2859Leu) c.4328A>T (p.His1443Leu) c.7556A>T (p.His2519Leu) | |
8 | g.99819487C>A | CA371776325 | VPS13B | c.8772C>A (p.His2924Gln) n.8842C>A c.*4454C>A (n.*4454C>A) c.8697C>A (p.His2899Gln) c.8769C>A (p.His2923Gln) c.8694C>A (p.His2898Gln) c.8394C>A (p.His2798Gln) c.5658C>A (p.His1886Gln) c.4551C>A (p.His1517Gln) c.8577C>A (p.His2859Gln) c.4329C>A (p.His1443Gln) c.7557C>A (p.His2519Gln) | ClinVar dbSNP |
8 | g.99819487C>G | CA371776323 | VPS13B | c.8772C>G (p.His2924Gln) n.8842C>G c.*4454C>G (n.*4454C>G) c.8697C>G (p.His2899Gln) c.8769C>G (p.His2923Gln) c.8694C>G (p.His2898Gln) c.8394C>G (p.His2798Gln) c.5658C>G (p.His1886Gln) c.4551C>G (p.His1517Gln) c.8577C>G (p.His2859Gln) c.4329C>G (p.His1443Gln) c.7557C>G (p.His2519Gln) | |
8 | g.99819487C>T | CA4824524 | VPS13B | c.8772C>T (p.His2924=) n.8842C>T c.*4454C>T (n.*4454C>T) c.8697C>T (p.His2899=) c.8769C>T (p.His2923=) c.8694C>T (p.His2898=) c.8394C>T (p.His2798=) c.5658C>T (p.His1886=) c.4551C>T (p.His1517=) c.8577C>T (p.His2859=) c.4329C>T (p.His1443=) c.7557C>T (p.His2519=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819488C>A | CA371776326 | VPS13B | c.8773C>A (p.Pro2925Thr) n.8843C>A c.*4455C>A (n.*4455C>A) c.8698C>A (p.Pro2900Thr) c.8770C>A (p.Pro2924Thr) c.8695C>A (p.Pro2899Thr) c.8395C>A (p.Pro2799Thr) c.5659C>A (p.Pro1887Thr) c.4552C>A (p.Pro1518Thr) c.8578C>A (p.Pro2860Thr) c.4330C>A (p.Pro1444Thr) c.7558C>A (p.Pro2520Thr) | |
8 | g.99819488C>G | CA371776328 | VPS13B | c.8773C>G (p.Pro2925Ala) n.8843C>G c.*4455C>G (n.*4455C>G) c.8698C>G (p.Pro2900Ala) c.8770C>G (p.Pro2924Ala) c.8695C>G (p.Pro2899Ala) c.8395C>G (p.Pro2799Ala) c.5659C>G (p.Pro1887Ala) c.4552C>G (p.Pro1518Ala) c.8578C>G (p.Pro2860Ala) c.4330C>G (p.Pro1444Ala) c.7558C>G (p.Pro2520Ala) | |
8 | g.99819488C>T | CA371776330 | VPS13B | c.8773C>T (p.Pro2925Ser) n.8843C>T c.*4455C>T (n.*4455C>T) c.8698C>T (p.Pro2900Ser) c.8770C>T (p.Pro2924Ser) c.8695C>T (p.Pro2899Ser) c.8395C>T (p.Pro2799Ser) c.5659C>T (p.Pro1887Ser) c.4552C>T (p.Pro1518Ser) c.8578C>T (p.Pro2860Ser) c.4330C>T (p.Pro1444Ser) c.7558C>T (p.Pro2520Ser) | |
8 | g.99819489C>A | CA371776332 | VPS13B | c.8774C>A (p.Pro2925His) n.8844C>A c.*4456C>A (n.*4456C>A) c.8699C>A (p.Pro2900His) c.8771C>A (p.Pro2924His) c.8696C>A (p.Pro2899His) c.8396C>A (p.Pro2799His) c.5660C>A (p.Pro1887His) c.4553C>A (p.Pro1518His) c.8579C>A (p.Pro2860His) c.4331C>A (p.Pro1444His) c.7559C>A (p.Pro2520His) | |
8 | g.99819489C>G | CA371776334 | VPS13B | c.8774C>G (p.Pro2925Arg) n.8844C>G c.*4456C>G (n.*4456C>G) c.8699C>G (p.Pro2900Arg) c.8771C>G (p.Pro2924Arg) c.8696C>G (p.Pro2899Arg) c.8396C>G (p.Pro2799Arg) c.5660C>G (p.Pro1887Arg) c.4553C>G (p.Pro1518Arg) c.8579C>G (p.Pro2860Arg) c.4331C>G (p.Pro1444Arg) c.7559C>G (p.Pro2520Arg) | |
8 | g.99819489C>T | CA371776336 | VPS13B | c.8774C>T (p.Pro2925Leu) n.8844C>T c.*4456C>T (n.*4456C>T) c.8699C>T (p.Pro2900Leu) c.8771C>T (p.Pro2924Leu) c.8696C>T (p.Pro2899Leu) c.8396C>T (p.Pro2799Leu) c.5660C>T (p.Pro1887Leu) c.4553C>T (p.Pro1518Leu) c.8579C>T (p.Pro2860Leu) c.4331C>T (p.Pro1444Leu) c.7559C>T (p.Pro2520Leu) | |
8 | g.99819490T>A | CA462339485 | VPS13B | c.8775T>A (p.Pro2925=) n.8845T>A c.*4457T>A (n.*4457T>A) c.8700T>A (p.Pro2900=) c.8772T>A (p.Pro2924=) c.8697T>A (p.Pro2899=) c.8397T>A (p.Pro2799=) c.5661T>A (p.Pro1887=) c.4554T>A (p.Pro1518=) c.8580T>A (p.Pro2860=) c.4332T>A (p.Pro1444=) c.7560T>A (p.Pro2520=) | |
8 | g.99819490T>C | CA462339486 | VPS13B | c.8775T>C (p.Pro2925=) n.8845T>C c.*4457T>C (n.*4457T>C) c.8700T>C (p.Pro2900=) c.8772T>C (p.Pro2924=) c.8697T>C (p.Pro2899=) c.8397T>C (p.Pro2799=) c.5661T>C (p.Pro1887=) c.4554T>C (p.Pro1518=) c.8580T>C (p.Pro2860=) c.4332T>C (p.Pro1444=) c.7560T>C (p.Pro2520=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819490T>G | CA462339487 | VPS13B | c.8775T>G (p.Pro2925=) n.8845T>G c.*4457T>G (n.*4457T>G) c.8700T>G (p.Pro2900=) c.8772T>G (p.Pro2924=) c.8697T>G (p.Pro2899=) c.8397T>G (p.Pro2799=) c.5661T>G (p.Pro1887=) c.4554T>G (p.Pro1518=) c.8580T>G (p.Pro2860=) c.4332T>G (p.Pro1444=) c.7560T>G (p.Pro2520=) | |
8 | g.99819491G>A | CA371776338 | VPS13B | c.8776G>A (p.Gly2926Arg) n.8846G>A c.*4458G>A (n.*4458G>A) c.8701G>A (p.Gly2901Arg) c.8773G>A (p.Gly2925Arg) c.8698G>A (p.Gly2900Arg) c.8398G>A (p.Gly2800Arg) c.5662G>A (p.Gly1888Arg) c.4555G>A (p.Gly1519Arg) c.8581G>A (p.Gly2861Arg) c.4333G>A (p.Gly1445Arg) c.7561G>A (p.Gly2521Arg) | gnomAD v4 |
8 | g.99819491G>C | CA371776340 | VPS13B | c.8776G>C (p.Gly2926Arg) n.8846G>C c.*4458G>C (n.*4458G>C) c.8701G>C (p.Gly2901Arg) c.8773G>C (p.Gly2925Arg) c.8698G>C (p.Gly2900Arg) c.8398G>C (p.Gly2800Arg) c.5662G>C (p.Gly1888Arg) c.4555G>C (p.Gly1519Arg) c.8581G>C (p.Gly2861Arg) c.4333G>C (p.Gly1445Arg) c.7561G>C (p.Gly2521Arg) | gnomAD v4 |
8 | g.99819491G>T | CA371776342 | VPS13B | c.8776G>T (p.Gly2926Ter) n.8846G>T c.*4458G>T (n.*4458G>T) c.8701G>T (p.Gly2901Ter) c.8773G>T (p.Gly2925Ter) c.8698G>T (p.Gly2900Ter) c.8398G>T (p.Gly2800Ter) c.5662G>T (p.Gly1888Ter) c.4555G>T (p.Gly1519Ter) c.8581G>T (p.Gly2861Ter) c.4333G>T (p.Gly1445Ter) c.7561G>T (p.Gly2521Ter) | |
8 | g.99819492G>A | CA371776344 | VPS13B | c.8777G>A (p.Gly2926Glu) n.8847G>A c.*4459G>A (n.*4459G>A) c.8702G>A (p.Gly2901Glu) c.8774G>A (p.Gly2925Glu) c.8699G>A (p.Gly2900Glu) c.8399G>A (p.Gly2800Glu) c.5663G>A (p.Gly1888Glu) c.4556G>A (p.Gly1519Glu) c.8582G>A (p.Gly2861Glu) c.4334G>A (p.Gly1445Glu) c.7562G>A (p.Gly2521Glu) | |
8 | g.99819492G>C | CA371776346 | VPS13B | c.8777G>C (p.Gly2926Ala) n.8847G>C c.*4459G>C (n.*4459G>C) c.8702G>C (p.Gly2901Ala) c.8774G>C (p.Gly2925Ala) c.8699G>C (p.Gly2900Ala) c.8399G>C (p.Gly2800Ala) c.5663G>C (p.Gly1888Ala) c.4556G>C (p.Gly1519Ala) c.8582G>C (p.Gly2861Ala) c.4334G>C (p.Gly1445Ala) c.7562G>C (p.Gly2521Ala) | |
8 | g.99819492G>T | CA371776348 | VPS13B | c.8777G>T (p.Gly2926Val) n.8847G>T c.*4459G>T (n.*4459G>T) c.8702G>T (p.Gly2901Val) c.8774G>T (p.Gly2925Val) c.8699G>T (p.Gly2900Val) c.8399G>T (p.Gly2800Val) c.5663G>T (p.Gly1888Val) c.4556G>T (p.Gly1519Val) c.8582G>T (p.Gly2861Val) c.4334G>T (p.Gly1445Val) c.7562G>T (p.Gly2521Val) | COSMIC COSMIC |
8 | g.99819493A>C | CA462339489 | VPS13B | c.8778A>C (p.Gly2926=) n.8848A>C c.*4460A>C (n.*4460A>C) c.8703A>C (p.Gly2901=) c.8775A>C (p.Gly2925=) c.8700A>C (p.Gly2900=) c.8400A>C (p.Gly2800=) c.5664A>C (p.Gly1888=) c.4557A>C (p.Gly1519=) c.8583A>C (p.Gly2861=) c.4335A>C (p.Gly1445=) c.7563A>C (p.Gly2521=) | |
8 | g.99819493A>G | CA462339490 | VPS13B | c.8778A>G (p.Gly2926=) n.8848A>G c.*4460A>G (n.*4460A>G) c.8703A>G (p.Gly2901=) c.8775A>G (p.Gly2925=) c.8700A>G (p.Gly2900=) c.8400A>G (p.Gly2800=) c.5664A>G (p.Gly1888=) c.4557A>G (p.Gly1519=) c.8583A>G (p.Gly2861=) c.4335A>G (p.Gly1445=) c.7563A>G (p.Gly2521=) | ClinVar dbSNP gnomAD v4 |
8 | g.99819493A>T | CA462339491 | VPS13B | c.8778A>T (p.Gly2926=) n.8848A>T c.*4460A>T (n.*4460A>T) c.8703A>T (p.Gly2901=) c.8775A>T (p.Gly2925=) c.8700A>T (p.Gly2900=) c.8400A>T (p.Gly2800=) c.5664A>T (p.Gly1888=) c.4557A>T (p.Gly1519=) c.8583A>T (p.Gly2861=) c.4335A>T (p.Gly1445=) c.7563A>T (p.Gly2521=) | |
8 | g.99819494G>A | CA371776353 | VPS13B | c.8779G>A (p.Gly2927Ser) n.8849G>A c.*4461G>A (n.*4461G>A) c.8704G>A (p.Gly2902Ser) c.8776G>A (p.Gly2926Ser) c.8701G>A (p.Gly2901Ser) c.8401G>A (p.Gly2801Ser) c.5665G>A (p.Gly1889Ser) c.4558G>A (p.Gly1520Ser) c.8584G>A (p.Gly2862Ser) c.4336G>A (p.Gly1446Ser) c.7564G>A (p.Gly2522Ser) | |
8 | g.99819494G>C | CA371776351 | VPS13B | c.8779G>C (p.Gly2927Arg) n.8849G>C c.*4461G>C (n.*4461G>C) c.8704G>C (p.Gly2902Arg) c.8776G>C (p.Gly2926Arg) c.8701G>C (p.Gly2901Arg) c.8401G>C (p.Gly2801Arg) c.5665G>C (p.Gly1889Arg) c.4558G>C (p.Gly1520Arg) c.8584G>C (p.Gly2862Arg) c.4336G>C (p.Gly1446Arg) c.7564G>C (p.Gly2522Arg) | |
8 | g.99819494G>T | CA371776350 | VPS13B | c.8779G>T (p.Gly2927Cys) n.8849G>T c.*4461G>T (n.*4461G>T) c.8704G>T (p.Gly2902Cys) c.8776G>T (p.Gly2926Cys) c.8701G>T (p.Gly2901Cys) c.8401G>T (p.Gly2801Cys) c.5665G>T (p.Gly1889Cys) c.4558G>T (p.Gly1520Cys) c.8584G>T (p.Gly2862Cys) c.4336G>T (p.Gly1446Cys) c.7564G>T (p.Gly2522Cys) | |
8 | g.99819495G>A | CA4824525 | VPS13B | c.8780G>A (p.Gly2927Asp) n.8850G>A c.*4462G>A (n.*4462G>A) c.8705G>A (p.Gly2902Asp) c.8777G>A (p.Gly2926Asp) c.8702G>A (p.Gly2901Asp) c.8402G>A (p.Gly2801Asp) c.5666G>A (p.Gly1889Asp) c.4559G>A (p.Gly1520Asp) c.8585G>A (p.Gly2862Asp) c.4337G>A (p.Gly1446Asp) c.7565G>A (p.Gly2522Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819495G>C | CA371776358 | VPS13B | c.8780G>C (p.Gly2927Ala) n.8850G>C c.*4462G>C (n.*4462G>C) c.8705G>C (p.Gly2902Ala) c.8777G>C (p.Gly2926Ala) c.8702G>C (p.Gly2901Ala) c.8402G>C (p.Gly2801Ala) c.5666G>C (p.Gly1889Ala) c.4559G>C (p.Gly1520Ala) c.8585G>C (p.Gly2862Ala) c.4337G>C (p.Gly1446Ala) c.7565G>C (p.Gly2522Ala) | |
8 | g.99819495G>T | CA371776357 | VPS13B | c.8780G>T (p.Gly2927Val) n.8850G>T c.*4462G>T (n.*4462G>T) c.8705G>T (p.Gly2902Val) c.8777G>T (p.Gly2926Val) c.8702G>T (p.Gly2901Val) c.8402G>T (p.Gly2801Val) c.5666G>T (p.Gly1889Val) c.4559G>T (p.Gly1520Val) c.8585G>T (p.Gly2862Val) c.4337G>T (p.Gly1446Val) c.7565G>T (p.Gly2522Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819496C>A | CA462339492 | VPS13B | c.8781C>A (p.Gly2927=) n.8851C>A c.*4463C>A (n.*4463C>A) c.8706C>A (p.Gly2902=) c.8778C>A (p.Gly2926=) c.8703C>A (p.Gly2901=) c.8403C>A (p.Gly2801=) c.5667C>A (p.Gly1889=) c.4560C>A (p.Gly1520=) c.8586C>A (p.Gly2862=) c.4338C>A (p.Gly1446=) c.7566C>A (p.Gly2522=) | |
8 | g.99819496C>G | CA462339493 | VPS13B | c.8781C>G (p.Gly2927=) n.8851C>G c.*4463C>G (n.*4463C>G) c.8706C>G (p.Gly2902=) c.8778C>G (p.Gly2926=) c.8703C>G (p.Gly2901=) c.8403C>G (p.Gly2801=) c.5667C>G (p.Gly1889=) c.4560C>G (p.Gly1520=) c.8586C>G (p.Gly2862=) c.4338C>G (p.Gly1446=) c.7566C>G (p.Gly2522=) | |
8 | g.99819496C>T | CA462339494 | VPS13B | c.8781C>T (p.Gly2927=) n.8851C>T c.*4463C>T (n.*4463C>T) c.8706C>T (p.Gly2902=) c.8778C>T (p.Gly2926=) c.8703C>T (p.Gly2901=) c.8403C>T (p.Gly2801=) c.5667C>T (p.Gly1889=) c.4560C>T (p.Gly1520=) c.8586C>T (p.Gly2862=) c.4338C>T (p.Gly1446=) c.7566C>T (p.Gly2522=) | ClinVar dbSNP |
8 | g.99819497A>C | CA371776360 | VPS13B | c.8782A>C (p.Thr2928Pro) n.8852A>C c.*4464A>C (n.*4464A>C) c.8707A>C (p.Thr2903Pro) c.8779A>C (p.Thr2927Pro) c.8704A>C (p.Thr2902Pro) c.8404A>C (p.Thr2802Pro) c.5668A>C (p.Thr1890Pro) c.4561A>C (p.Thr1521Pro) c.8587A>C (p.Thr2863Pro) c.4339A>C (p.Thr1447Pro) c.7567A>C (p.Thr2523Pro) | |
8 | g.99819497A>G | CA371776362 | VPS13B | c.8782A>G (p.Thr2928Ala) n.8852A>G c.*4464A>G (n.*4464A>G) c.8707A>G (p.Thr2903Ala) c.8779A>G (p.Thr2927Ala) c.8704A>G (p.Thr2902Ala) c.8404A>G (p.Thr2802Ala) c.5668A>G (p.Thr1890Ala) c.4561A>G (p.Thr1521Ala) c.8587A>G (p.Thr2863Ala) c.4339A>G (p.Thr1447Ala) c.7567A>G (p.Thr2523Ala) | |
8 | g.99819497A>T | CA371776363 | VPS13B | c.8782A>T (p.Thr2928Ser) n.8852A>T c.*4464A>T (n.*4464A>T) c.8707A>T (p.Thr2903Ser) c.8779A>T (p.Thr2927Ser) c.8704A>T (p.Thr2902Ser) c.8404A>T (p.Thr2802Ser) c.5668A>T (p.Thr1890Ser) c.4561A>T (p.Thr1521Ser) c.8587A>T (p.Thr2863Ser) c.4339A>T (p.Thr1447Ser) c.7567A>T (p.Thr2523Ser) | |
8 | g.99819498C>A | CA371776365 | VPS13B | c.8783C>A (p.Thr2928Lys) n.8853C>A c.*4465C>A (n.*4465C>A) c.8708C>A (p.Thr2903Lys) c.8780C>A (p.Thr2927Lys) c.8705C>A (p.Thr2902Lys) c.8405C>A (p.Thr2802Lys) c.5669C>A (p.Thr1890Lys) c.4562C>A (p.Thr1521Lys) c.8588C>A (p.Thr2863Lys) c.4340C>A (p.Thr1447Lys) c.7568C>A (p.Thr2523Lys) | |
8 | g.99819498C>G | CA182328700 | VPS13B | c.8783C>G (p.Thr2928Arg) n.8853C>G c.*4465C>G (n.*4465C>G) c.8708C>G (p.Thr2903Arg) c.8780C>G (p.Thr2927Arg) c.8705C>G (p.Thr2902Arg) c.8405C>G (p.Thr2802Arg) c.5669C>G (p.Thr1890Arg) c.4562C>G (p.Thr1521Arg) c.8588C>G (p.Thr2863Arg) c.4340C>G (p.Thr1447Arg) c.7568C>G (p.Thr2523Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819498C>T | CA371776368 | VPS13B | c.8783C>T (p.Thr2928Ile) n.8853C>T c.*4465C>T (n.*4465C>T) c.8708C>T (p.Thr2903Ile) c.8780C>T (p.Thr2927Ile) c.8705C>T (p.Thr2902Ile) c.8405C>T (p.Thr2802Ile) c.5669C>T (p.Thr1890Ile) c.4562C>T (p.Thr1521Ile) c.8588C>T (p.Thr2863Ile) c.4340C>T (p.Thr1447Ile) c.7568C>T (p.Thr2523Ile) | dbSNP |
8 | g.99819499A>C | CA462339495 | VPS13B | c.8784A>C (p.Thr2928=) n.8854A>C c.*4466A>C (n.*4466A>C) c.8709A>C (p.Thr2903=) c.8781A>C (p.Thr2927=) c.8706A>C (p.Thr2902=) c.8406A>C (p.Thr2802=) c.5670A>C (p.Thr1890=) c.4563A>C (p.Thr1521=) c.8589A>C (p.Thr2863=) c.4341A>C (p.Thr1447=) c.7569A>C (p.Thr2523=) | |
8 | g.99819499A>G | CA4824526 | VPS13B | c.8784A>G (p.Thr2928=) n.8854A>G c.*4466A>G (n.*4466A>G) c.8709A>G (p.Thr2903=) c.8781A>G (p.Thr2927=) c.8706A>G (p.Thr2902=) c.8406A>G (p.Thr2802=) c.5670A>G (p.Thr1890=) c.4563A>G (p.Thr1521=) c.8589A>G (p.Thr2863=) c.4341A>G (p.Thr1447=) c.7569A>G (p.Thr2523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819499A>T | CA462339496 | VPS13B | c.8784A>T (p.Thr2928=) n.8854A>T c.*4466A>T (n.*4466A>T) c.8709A>T (p.Thr2903=) c.8781A>T (p.Thr2927=) c.8706A>T (p.Thr2902=) c.8406A>T (p.Thr2802=) c.5670A>T (p.Thr1890=) c.4563A>T (p.Thr1521=) c.8589A>T (p.Thr2863=) c.4341A>T (p.Thr1447=) c.7569A>T (p.Thr2523=) | ClinVar gnomAD v4 |
8 | g.99819500del | CA2580079246 | VPS13B | c.8785del (p.Val2929LeufsTer?) n.8855del c.*4467del (n.*4467del) c.8710del (p.Val2904LeufsTer?) c.8782del (p.Val2928LeufsTer?) c.8707del (p.Val2903LeufsTer?) c.8407del (p.Val2803LeufsTer?) c.5671del (p.Val1891LeufsTer?) c.4564del (p.Val1522LeufsTer?) c.8590del (p.Val2864LeufsTer?) c.4342del (p.Val1448LeufsTer?) c.7570del (p.Val2524LeufsTer?) | ClinVar |
8 | g.99819500G>A | CA4824527 | VPS13B | c.8785G>A (p.Val2929Ile) n.8855G>A c.*4467G>A (n.*4467G>A) c.8710G>A (p.Val2904Ile) c.8782G>A (p.Val2928Ile) c.8707G>A (p.Val2903Ile) c.8407G>A (p.Val2803Ile) c.5671G>A (p.Val1891Ile) c.4564G>A (p.Val1522Ile) c.8590G>A (p.Val2864Ile) c.4342G>A (p.Val1448Ile) c.7570G>A (p.Val2524Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819500G>C | CA371776372 | VPS13B | c.8785G>C (p.Val2929Leu) n.8855G>C c.*4467G>C (n.*4467G>C) c.8710G>C (p.Val2904Leu) c.8782G>C (p.Val2928Leu) c.8707G>C (p.Val2903Leu) c.8407G>C (p.Val2803Leu) c.5671G>C (p.Val1891Leu) c.4564G>C (p.Val1522Leu) c.8590G>C (p.Val2864Leu) c.4342G>C (p.Val1448Leu) c.7570G>C (p.Val2524Leu) | |
8 | g.99819500G>T | CA371776374 | VPS13B | c.8785G>T (p.Val2929Phe) n.8855G>T c.*4467G>T (n.*4467G>T) c.8710G>T (p.Val2904Phe) c.8782G>T (p.Val2928Phe) c.8707G>T (p.Val2903Phe) c.8407G>T (p.Val2803Phe) c.5671G>T (p.Val1891Phe) c.4564G>T (p.Val1522Phe) c.8590G>T (p.Val2864Phe) c.4342G>T (p.Val1448Phe) c.7570G>T (p.Val2524Phe) | |
8 | g.99819501T>A | CA4824528 | VPS13B | c.8786T>A (p.Val2929Asp) n.8856T>A c.*4468T>A (n.*4468T>A) c.8711T>A (p.Val2904Asp) c.8783T>A (p.Val2928Asp) c.8708T>A (p.Val2903Asp) c.8408T>A (p.Val2803Asp) c.5672T>A (p.Val1891Asp) c.4565T>A (p.Val1522Asp) c.8591T>A (p.Val2864Asp) c.4343T>A (p.Val1448Asp) c.7571T>A (p.Val2524Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99819501T>C | CA371776376 | VPS13B | c.8786T>C (p.Val2929Ala) n.8856T>C c.*4468T>C (n.*4468T>C) c.8711T>C (p.Val2904Ala) c.8783T>C (p.Val2928Ala) c.8708T>C (p.Val2903Ala) c.8408T>C (p.Val2803Ala) c.5672T>C (p.Val1891Ala) c.4565T>C (p.Val1522Ala) c.8591T>C (p.Val2864Ala) c.4343T>C (p.Val1448Ala) c.7571T>C (p.Val2524Ala) | |
8 | g.99819501T>G | CA371776377 | VPS13B | c.8786T>G (p.Val2929Gly) n.8856T>G c.*4468T>G (n.*4468T>G) c.8711T>G (p.Val2904Gly) c.8783T>G (p.Val2928Gly) c.8708T>G (p.Val2903Gly) c.8408T>G (p.Val2803Gly) c.5672T>G (p.Val1891Gly) c.4565T>G (p.Val1522Gly) c.8591T>G (p.Val2864Gly) c.4343T>G (p.Val1448Gly) c.7571T>G (p.Val2524Gly) | |
8 | g.99819502T>A | CA462339497 | VPS13B | c.8787T>A (p.Val2929=) n.8857T>A c.*4469T>A (n.*4469T>A) c.8712T>A (p.Val2904=) c.8784T>A (p.Val2928=) c.8709T>A (p.Val2903=) c.8409T>A (p.Val2803=) c.5673T>A (p.Val1891=) c.4566T>A (p.Val1522=) c.8592T>A (p.Val2864=) c.4344T>A (p.Val1448=) c.7572T>A (p.Val2524=) | |
8 | g.99819502T>C | CA462339498 | VPS13B | c.8787T>C (p.Val2929=) n.8857T>C c.*4469T>C (n.*4469T>C) c.8712T>C (p.Val2904=) c.8784T>C (p.Val2928=) c.8709T>C (p.Val2903=) c.8409T>C (p.Val2803=) c.5673T>C (p.Val1891=) c.4566T>C (p.Val1522=) c.8592T>C (p.Val2864=) c.4344T>C (p.Val1448=) c.7572T>C (p.Val2524=) | |
8 | g.99819502T>G | CA462339499 | VPS13B | c.8787T>G (p.Val2929=) n.8857T>G c.*4469T>G (n.*4469T>G) c.8712T>G (p.Val2904=) c.8784T>G (p.Val2928=) c.8709T>G (p.Val2903=) c.8409T>G (p.Val2803=) c.5673T>G (p.Val1891=) c.4566T>G (p.Val1522=) c.8592T>G (p.Val2864=) c.4344T>G (p.Val1448=) c.7572T>G (p.Val2524=) | |
8 | g.99819503A>C | CA4824529 | VPS13B | c.8788A>C (p.Asn2930His) n.8858A>C c.*4470A>C (n.*4470A>C) c.8713A>C (p.Asn2905His) c.8785A>C (p.Asn2929His) c.8710A>C (p.Asn2904His) c.8410A>C (p.Asn2804His) c.5674A>C (p.Asn1892His) c.4567A>C (p.Asn1523His) c.8593A>C (p.Asn2865His) c.4345A>C (p.Asn1449His) c.7573A>C (p.Asn2525His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819503A>G | CA371776382 | VPS13B | c.8788A>G (p.Asn2930Asp) n.8858A>G c.*4470A>G (n.*4470A>G) c.8713A>G (p.Asn2905Asp) c.8785A>G (p.Asn2929Asp) c.8710A>G (p.Asn2904Asp) c.8410A>G (p.Asn2804Asp) c.5674A>G (p.Asn1892Asp) c.4567A>G (p.Asn1523Asp) c.8593A>G (p.Asn2865Asp) c.4345A>G (p.Asn1449Asp) c.7573A>G (p.Asn2525Asp) | dbSNP gnomAD v4 |
8 | g.99819503A>T | CA371776381 | VPS13B | c.8788A>T (p.Asn2930Tyr) n.8858A>T c.*4470A>T (n.*4470A>T) c.8713A>T (p.Asn2905Tyr) c.8785A>T (p.Asn2929Tyr) c.8710A>T (p.Asn2904Tyr) c.8410A>T (p.Asn2804Tyr) c.5674A>T (p.Asn1892Tyr) c.4567A>T (p.Asn1523Tyr) c.8593A>T (p.Asn2865Tyr) c.4345A>T (p.Asn1449Tyr) c.7573A>T (p.Asn2525Tyr) | |
8 | g.99819504A>C | CA371776385 | VPS13B | c.8789A>C (p.Asn2930Thr) n.8859A>C c.*4471A>C (n.*4471A>C) c.8714A>C (p.Asn2905Thr) c.8786A>C (p.Asn2929Thr) c.8711A>C (p.Asn2904Thr) c.8411A>C (p.Asn2804Thr) c.5675A>C (p.Asn1892Thr) c.4568A>C (p.Asn1523Thr) c.8594A>C (p.Asn2865Thr) c.4346A>C (p.Asn1449Thr) c.7574A>C (p.Asn2525Thr) | |
8 | g.99819504A>G | CA371776386 | VPS13B | c.8789A>G (p.Asn2930Ser) n.8859A>G c.*4471A>G (n.*4471A>G) c.8714A>G (p.Asn2905Ser) c.8786A>G (p.Asn2929Ser) c.8711A>G (p.Asn2904Ser) c.8411A>G (p.Asn2804Ser) c.5675A>G (p.Asn1892Ser) c.4568A>G (p.Asn1523Ser) c.8594A>G (p.Asn2865Ser) c.4346A>G (p.Asn1449Ser) c.7574A>G (p.Asn2525Ser) | gnomAD v4 |
8 | g.99819504A>T | CA371776388 | VPS13B | c.8789A>T (p.Asn2930Ile) n.8859A>T c.*4471A>T (n.*4471A>T) c.8714A>T (p.Asn2905Ile) c.8786A>T (p.Asn2929Ile) c.8711A>T (p.Asn2904Ile) c.8411A>T (p.Asn2804Ile) c.5675A>T (p.Asn1892Ile) c.4568A>T (p.Asn1523Ile) c.8594A>T (p.Asn2865Ile) c.4346A>T (p.Asn1449Ile) c.7574A>T (p.Asn2525Ile) | |
8 | g.99819505T>A | CA371776391 | VPS13B | c.8790T>A (p.Asn2930Lys) n.8860T>A c.*4472T>A (n.*4472T>A) c.8715T>A (p.Asn2905Lys) c.8787T>A (p.Asn2929Lys) c.8712T>A (p.Asn2904Lys) c.8412T>A (p.Asn2804Lys) c.5676T>A (p.Asn1892Lys) c.4569T>A (p.Asn1523Lys) c.8595T>A (p.Asn2865Lys) c.4347T>A (p.Asn1449Lys) c.7575T>A (p.Asn2525Lys) | |
8 | g.99819505T>C | CA462339501 | VPS13B | c.8790T>C (p.Asn2930=) n.8860T>C c.*4472T>C (n.*4472T>C) c.8715T>C (p.Asn2905=) c.8787T>C (p.Asn2929=) c.8712T>C (p.Asn2904=) c.8412T>C (p.Asn2804=) c.5676T>C (p.Asn1892=) c.4569T>C (p.Asn1523=) c.8595T>C (p.Asn2865=) c.4347T>C (p.Asn1449=) c.7575T>C (p.Asn2525=) | gnomAD v4 |
8 | g.99819505T>G | CA371776392 | VPS13B | c.8790T>G (p.Asn2930Lys) n.8860T>G c.*4472T>G (n.*4472T>G) c.8715T>G (p.Asn2905Lys) c.8787T>G (p.Asn2929Lys) c.8712T>G (p.Asn2904Lys) c.8412T>G (p.Asn2804Lys) c.5676T>G (p.Asn1892Lys) c.4569T>G (p.Asn1523Lys) c.8595T>G (p.Asn2865Lys) c.4347T>G (p.Asn1449Lys) c.7575T>G (p.Asn2525Lys) | |
8 | g.99819506C>A | CA371776394 | VPS13B | c.8791C>A (p.Gln2931Lys) n.8861C>A c.*4473C>A (n.*4473C>A) c.8716C>A (p.Gln2906Lys) c.8788C>A (p.Gln2930Lys) c.8713C>A (p.Gln2905Lys) c.8413C>A (p.Gln2805Lys) c.5677C>A (p.Gln1893Lys) c.4570C>A (p.Gln1524Lys) c.8596C>A (p.Gln2866Lys) c.4348C>A (p.Gln1450Lys) c.7576C>A (p.Gln2526Lys) | |
8 | g.99819506C>G | CA371776396 | VPS13B | c.8791C>G (p.Gln2931Glu) n.8861C>G c.*4473C>G (n.*4473C>G) c.8716C>G (p.Gln2906Glu) c.8788C>G (p.Gln2930Glu) c.8713C>G (p.Gln2905Glu) c.8413C>G (p.Gln2805Glu) c.5677C>G (p.Gln1893Glu) c.4570C>G (p.Gln1524Glu) c.8596C>G (p.Gln2866Glu) c.4348C>G (p.Gln1450Glu) c.7576C>G (p.Gln2526Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819506C>T | CA371776397 | VPS13B | c.8791C>T (p.Gln2931Ter) n.8861C>T c.*4473C>T (n.*4473C>T) c.8716C>T (p.Gln2906Ter) c.8788C>T (p.Gln2930Ter) c.8713C>T (p.Gln2905Ter) c.8413C>T (p.Gln2805Ter) c.5677C>T (p.Gln1893Ter) c.4570C>T (p.Gln1524Ter) c.8596C>T (p.Gln2866Ter) c.4348C>T (p.Gln1450Ter) c.7576C>T (p.Gln2526Ter) | |
8 | g.99819507A>C | CA371776399 | VPS13B | c.8792A>C (p.Gln2931Pro) n.8862A>C c.*4474A>C (n.*4474A>C) c.8717A>C (p.Gln2906Pro) c.8789A>C (p.Gln2930Pro) c.8714A>C (p.Gln2905Pro) c.8414A>C (p.Gln2805Pro) c.5678A>C (p.Gln1893Pro) c.4571A>C (p.Gln1524Pro) c.8597A>C (p.Gln2866Pro) c.4349A>C (p.Gln1450Pro) c.7577A>C (p.Gln2526Pro) | |
8 | g.99819507A>G | CA371776401 | VPS13B | c.8792A>G (p.Gln2931Arg) n.8862A>G c.*4474A>G (n.*4474A>G) c.8717A>G (p.Gln2906Arg) c.8789A>G (p.Gln2930Arg) c.8714A>G (p.Gln2905Arg) c.8414A>G (p.Gln2805Arg) c.5678A>G (p.Gln1893Arg) c.4571A>G (p.Gln1524Arg) c.8597A>G (p.Gln2866Arg) c.4349A>G (p.Gln1450Arg) c.7577A>G (p.Gln2526Arg) | gnomAD v4 |
8 | g.99819507A>T | CA371776403 | VPS13B | c.8792A>T (p.Gln2931Leu) n.8862A>T c.*4474A>T (n.*4474A>T) c.8717A>T (p.Gln2906Leu) c.8789A>T (p.Gln2930Leu) c.8714A>T (p.Gln2905Leu) c.8414A>T (p.Gln2805Leu) c.5678A>T (p.Gln1893Leu) c.4571A>T (p.Gln1524Leu) c.8597A>T (p.Gln2866Leu) c.4349A>T (p.Gln1450Leu) c.7577A>T (p.Gln2526Leu) | |
8 | g.99819508G>A | CA462339502 | VPS13B | c.8793G>A (p.Gln2931=) n.8863G>A c.*4475G>A (n.*4475G>A) c.8718G>A (p.Gln2906=) c.8790G>A (p.Gln2930=) c.8715G>A (p.Gln2905=) c.8415G>A (p.Gln2805=) c.5679G>A (p.Gln1893=) c.4572G>A (p.Gln1524=) c.8598G>A (p.Gln2866=) c.4350G>A (p.Gln1450=) c.7578G>A (p.Gln2526=) | ClinVar |
8 | g.99819508G>C | CA371776404 | VPS13B | c.8793G>C (p.Gln2931His) n.8863G>C c.*4475G>C (n.*4475G>C) c.8718G>C (p.Gln2906His) c.8790G>C (p.Gln2930His) c.8715G>C (p.Gln2905His) c.8415G>C (p.Gln2805His) c.5679G>C (p.Gln1893His) c.4572G>C (p.Gln1524His) c.8598G>C (p.Gln2866His) c.4350G>C (p.Gln1450His) c.7578G>C (p.Gln2526His) | |
8 | g.99819508G>T | CA371776405 | VPS13B | c.8793G>T (p.Gln2931His) n.8863G>T c.*4475G>T (n.*4475G>T) c.8718G>T (p.Gln2906His) c.8790G>T (p.Gln2930His) c.8715G>T (p.Gln2905His) c.8415G>T (p.Gln2805His) c.5679G>T (p.Gln1893His) c.4572G>T (p.Gln1524His) c.8598G>T (p.Gln2866His) c.4350G>T (p.Gln1450His) c.7578G>T (p.Gln2526His) | gnomAD v4 |
8 | g.99819509A>C | CA371776408 | VPS13B | c.8794A>C (p.Ile2932Leu) n.8864A>C c.*4476A>C (n.*4476A>C) c.8719A>C (p.Ile2907Leu) c.8791A>C (p.Ile2931Leu) c.8716A>C (p.Ile2906Leu) c.8416A>C (p.Ile2806Leu) c.5680A>C (p.Ile1894Leu) c.4573A>C (p.Ile1525Leu) c.8599A>C (p.Ile2867Leu) c.4351A>C (p.Ile1451Leu) c.7579A>C (p.Ile2527Leu) | ClinVar gnomAD v4 |
8 | g.99819509A>G | CA371776409 | VPS13B | c.8794A>G (p.Ile2932Val) n.8864A>G c.*4476A>G (n.*4476A>G) c.8719A>G (p.Ile2907Val) c.8791A>G (p.Ile2931Val) c.8716A>G (p.Ile2906Val) c.8416A>G (p.Ile2806Val) c.5680A>G (p.Ile1894Val) c.4573A>G (p.Ile1525Val) c.8599A>G (p.Ile2867Val) c.4351A>G (p.Ile1451Val) c.7579A>G (p.Ile2527Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819509A>T | CA371776411 | VPS13B | c.8794A>T (p.Ile2932Phe) n.8864A>T c.*4476A>T (n.*4476A>T) c.8719A>T (p.Ile2907Phe) c.8791A>T (p.Ile2931Phe) c.8716A>T (p.Ile2906Phe) c.8416A>T (p.Ile2806Phe) c.5680A>T (p.Ile1894Phe) c.4573A>T (p.Ile1525Phe) c.8599A>T (p.Ile2867Phe) c.4351A>T (p.Ile1451Phe) c.7579A>T (p.Ile2527Phe) | |
8 | g.99819510T>A | CA371776414 | VPS13B | c.8795T>A (p.Ile2932Asn) n.8865T>A c.*4477T>A (n.*4477T>A) c.8720T>A (p.Ile2907Asn) c.8792T>A (p.Ile2931Asn) c.8717T>A (p.Ile2906Asn) c.8417T>A (p.Ile2806Asn) c.5681T>A (p.Ile1894Asn) c.4574T>A (p.Ile1525Asn) c.8600T>A (p.Ile2867Asn) c.4352T>A (p.Ile1451Asn) c.7580T>A (p.Ile2527Asn) | |
8 | g.99819510T>C | CA371776415 | VPS13B | c.8795T>C (p.Ile2932Thr) n.8865T>C c.*4477T>C (n.*4477T>C) c.8720T>C (p.Ile2907Thr) c.8792T>C (p.Ile2931Thr) c.8717T>C (p.Ile2906Thr) c.8417T>C (p.Ile2806Thr) c.5681T>C (p.Ile1894Thr) c.4574T>C (p.Ile1525Thr) c.8600T>C (p.Ile2867Thr) c.4352T>C (p.Ile1451Thr) c.7580T>C (p.Ile2527Thr) | |
8 | g.99819510T>G | CA371776417 | VPS13B | c.8795T>G (p.Ile2932Ser) n.8865T>G c.*4477T>G (n.*4477T>G) c.8720T>G (p.Ile2907Ser) c.8792T>G (p.Ile2931Ser) c.8717T>G (p.Ile2906Ser) c.8417T>G (p.Ile2806Ser) c.5681T>G (p.Ile1894Ser) c.4574T>G (p.Ile1525Ser) c.8600T>G (p.Ile2867Ser) c.4352T>G (p.Ile1451Ser) c.7580T>G (p.Ile2527Ser) | |
8 | g.99819511C>A | CA462339503 | VPS13B | c.8796C>A (p.Ile2932=) n.8866C>A c.*4478C>A (n.*4478C>A) c.8721C>A (p.Ile2907=) c.8793C>A (p.Ile2931=) c.8718C>A (p.Ile2906=) c.8418C>A (p.Ile2806=) c.5682C>A (p.Ile1894=) c.4575C>A (p.Ile1525=) c.8601C>A (p.Ile2867=) c.4353C>A (p.Ile1451=) c.7581C>A (p.Ile2527=) | ClinVar |
8 | g.99819511C>G | CA371776420 | VPS13B | c.8796C>G (p.Ile2932Met) n.8866C>G c.*4478C>G (n.*4478C>G) c.8721C>G (p.Ile2907Met) c.8793C>G (p.Ile2931Met) c.8718C>G (p.Ile2906Met) c.8418C>G (p.Ile2806Met) c.5682C>G (p.Ile1894Met) c.4575C>G (p.Ile1525Met) c.8601C>G (p.Ile2867Met) c.4353C>G (p.Ile1451Met) c.7581C>G (p.Ile2527Met) | |
8 | g.99819511C>T | CA4824530 | VPS13B | c.8796C>T (p.Ile2932=) n.8866C>T c.*4478C>T (n.*4478C>T) c.8721C>T (p.Ile2907=) c.8793C>T (p.Ile2931=) c.8718C>T (p.Ile2906=) c.8418C>T (p.Ile2806=) c.5682C>T (p.Ile1894=) c.4575C>T (p.Ile1525=) c.8601C>T (p.Ile2867=) c.4353C>T (p.Ile1451=) c.7581C>T (p.Ile2527=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819512C>A | CA371776422 | VPS13B | c.8797C>A (p.Leu2933Ile) n.8867C>A c.*4479C>A (n.*4479C>A) c.8722C>A (p.Leu2908Ile) c.8794C>A (p.Leu2932Ile) c.8719C>A (p.Leu2907Ile) c.8419C>A (p.Leu2807Ile) c.5683C>A (p.Leu1895Ile) c.4576C>A (p.Leu1526Ile) c.8602C>A (p.Leu2868Ile) c.4354C>A (p.Leu1452Ile) c.7582C>A (p.Leu2528Ile) | |
8 | g.99819512C>G | CA371776424 | VPS13B | c.8797C>G (p.Leu2933Val) n.8867C>G c.*4479C>G (n.*4479C>G) c.8722C>G (p.Leu2908Val) c.8794C>G (p.Leu2932Val) c.8719C>G (p.Leu2907Val) c.8419C>G (p.Leu2807Val) c.5683C>G (p.Leu1895Val) c.4576C>G (p.Leu1526Val) c.8602C>G (p.Leu2868Val) c.4354C>G (p.Leu1452Val) c.7582C>G (p.Leu2528Val) | |
8 | g.99819512C>T | CA371776426 | VPS13B | c.8797C>T (p.Leu2933Phe) n.8867C>T c.*4479C>T (n.*4479C>T) c.8722C>T (p.Leu2908Phe) c.8794C>T (p.Leu2932Phe) c.8719C>T (p.Leu2907Phe) c.8419C>T (p.Leu2807Phe) c.5683C>T (p.Leu1895Phe) c.4576C>T (p.Leu1526Phe) c.8602C>T (p.Leu2868Phe) c.4354C>T (p.Leu1452Phe) c.7582C>T (p.Leu2528Phe) | |
8 | g.99819513T>A | CA371776429 | VPS13B | c.8798T>A (p.Leu2933His) n.8868T>A c.*4480T>A (n.*4480T>A) c.8723T>A (p.Leu2908His) c.8795T>A (p.Leu2932His) c.8720T>A (p.Leu2907His) c.8420T>A (p.Leu2807His) c.5684T>A (p.Leu1895His) c.4577T>A (p.Leu1526His) c.8603T>A (p.Leu2868His) c.4355T>A (p.Leu1452His) c.7583T>A (p.Leu2528His) | |
8 | g.99819513T>C | CA371776430 | VPS13B | c.8798T>C (p.Leu2933Pro) n.8868T>C c.*4480T>C (n.*4480T>C) c.8723T>C (p.Leu2908Pro) c.8795T>C (p.Leu2932Pro) c.8720T>C (p.Leu2907Pro) c.8420T>C (p.Leu2807Pro) c.5684T>C (p.Leu1895Pro) c.4577T>C (p.Leu1526Pro) c.8603T>C (p.Leu2868Pro) c.4355T>C (p.Leu1452Pro) c.7583T>C (p.Leu2528Pro) | |
8 | g.99819513T>G | CA371776432 | VPS13B | c.8798T>G (p.Leu2933Arg) n.8868T>G c.*4480T>G (n.*4480T>G) c.8723T>G (p.Leu2908Arg) c.8795T>G (p.Leu2932Arg) c.8720T>G (p.Leu2907Arg) c.8420T>G (p.Leu2807Arg) c.5684T>G (p.Leu1895Arg) c.4577T>G (p.Leu1526Arg) c.8603T>G (p.Leu2868Arg) c.4355T>G (p.Leu1452Arg) c.7583T>G (p.Leu2528Arg) | |
8 | g.99819514T>A | CA462339504 | VPS13B | c.8799T>A (p.Leu2933=) n.8869T>A c.*4481T>A (n.*4481T>A) c.8724T>A (p.Leu2908=) c.8796T>A (p.Leu2932=) c.8721T>A (p.Leu2907=) c.8421T>A (p.Leu2807=) c.5685T>A (p.Leu1895=) c.4578T>A (p.Leu1526=) c.8604T>A (p.Leu2868=) c.4356T>A (p.Leu1452=) c.7584T>A (p.Leu2528=) | |
8 | g.99819514T>C | CA462339505 | VPS13B | c.8799T>C (p.Leu2933=) n.8869T>C c.*4481T>C (n.*4481T>C) c.8724T>C (p.Leu2908=) c.8796T>C (p.Leu2932=) c.8721T>C (p.Leu2907=) c.8421T>C (p.Leu2807=) c.5685T>C (p.Leu1895=) c.4578T>C (p.Leu1526=) c.8604T>C (p.Leu2868=) c.4356T>C (p.Leu1452=) c.7584T>C (p.Leu2528=) | |
8 | g.99819514T>G | CA462339506 | VPS13B | c.8799T>G (p.Leu2933=) n.8869T>G c.*4481T>G (n.*4481T>G) c.8724T>G (p.Leu2908=) c.8796T>G (p.Leu2932=) c.8721T>G (p.Leu2907=) c.8421T>G (p.Leu2807=) c.5685T>G (p.Leu1895=) c.4578T>G (p.Leu1526=) c.8604T>G (p.Leu2868=) c.4356T>G (p.Leu1452=) c.7584T>G (p.Leu2528=) | |
8 | g.99819515G>A | CA371776434 | VPS13B | c.8800G>A (p.Asp2934Asn) n.8870G>A c.*4482G>A (n.*4482G>A) c.8725G>A (p.Asp2909Asn) c.8797G>A (p.Asp2933Asn) c.8722G>A (p.Asp2908Asn) c.8422G>A (p.Asp2808Asn) c.5686G>A (p.Asp1896Asn) c.4579G>A (p.Asp1527Asn) c.8605G>A (p.Asp2869Asn) c.4357G>A (p.Asp1453Asn) c.7585G>A (p.Asp2529Asn) | ClinVar gnomAD v4 |
8 | g.99819515G>C | CA371776438 | VPS13B | c.8800G>C (p.Asp2934His) n.8870G>C c.*4482G>C (n.*4482G>C) c.8725G>C (p.Asp2909His) c.8797G>C (p.Asp2933His) c.8722G>C (p.Asp2908His) c.8422G>C (p.Asp2808His) c.5686G>C (p.Asp1896His) c.4579G>C (p.Asp1527His) c.8605G>C (p.Asp2869His) c.4357G>C (p.Asp1453His) c.7585G>C (p.Asp2529His) | |
8 | g.99819515G>T | CA371776436 | VPS13B | c.8800G>T (p.Asp2934Tyr) n.8870G>T c.*4482G>T (n.*4482G>T) c.8725G>T (p.Asp2909Tyr) c.8797G>T (p.Asp2933Tyr) c.8722G>T (p.Asp2908Tyr) c.8422G>T (p.Asp2808Tyr) c.5686G>T (p.Asp1896Tyr) c.4579G>T (p.Asp1527Tyr) c.8605G>T (p.Asp2869Tyr) c.4357G>T (p.Asp1453Tyr) c.7585G>T (p.Asp2529Tyr) | |
8 | g.99819516A>C | CA371776441 | VPS13B | c.8801A>C (p.Asp2934Ala) n.8871A>C c.*4483A>C (n.*4483A>C) c.8726A>C (p.Asp2909Ala) c.8798A>C (p.Asp2933Ala) c.8723A>C (p.Asp2908Ala) c.8423A>C (p.Asp2808Ala) c.5687A>C (p.Asp1896Ala) c.4580A>C (p.Asp1527Ala) c.8606A>C (p.Asp2869Ala) c.4358A>C (p.Asp1453Ala) c.7586A>C (p.Asp2529Ala) | |
8 | g.99819516A>G | CA371776443 | VPS13B | c.8801A>G (p.Asp2934Gly) n.8871A>G c.*4483A>G (n.*4483A>G) c.8726A>G (p.Asp2909Gly) c.8798A>G (p.Asp2933Gly) c.8723A>G (p.Asp2908Gly) c.8423A>G (p.Asp2808Gly) c.5687A>G (p.Asp1896Gly) c.4580A>G (p.Asp1527Gly) c.8606A>G (p.Asp2869Gly) c.4358A>G (p.Asp1453Gly) c.7586A>G (p.Asp2529Gly) | |
8 | g.99819516A>T | CA371776445 | VPS13B | c.8801A>T (p.Asp2934Val) n.8871A>T c.*4483A>T (n.*4483A>T) c.8726A>T (p.Asp2909Val) c.8798A>T (p.Asp2933Val) c.8723A>T (p.Asp2908Val) c.8423A>T (p.Asp2808Val) c.5687A>T (p.Asp1896Val) c.4580A>T (p.Asp1527Val) c.8606A>T (p.Asp2869Val) c.4358A>T (p.Asp1453Val) c.7586A>T (p.Asp2529Val) | |
8 | g.99819517C>A | CA371776447 | VPS13B | c.8802C>A (p.Asp2934Glu) n.8872C>A c.*4484C>A (n.*4484C>A) c.8727C>A (p.Asp2909Glu) c.8799C>A (p.Asp2933Glu) c.8724C>A (p.Asp2908Glu) c.8424C>A (p.Asp2808Glu) c.5688C>A (p.Asp1896Glu) c.4581C>A (p.Asp1527Glu) c.8607C>A (p.Asp2869Glu) c.4359C>A (p.Asp1453Glu) c.7587C>A (p.Asp2529Glu) | |
8 | g.99819517C>G | CA371776449 | VPS13B | c.8802C>G (p.Asp2934Glu) n.8872C>G c.*4484C>G (n.*4484C>G) c.8727C>G (p.Asp2909Glu) c.8799C>G (p.Asp2933Glu) c.8724C>G (p.Asp2908Glu) c.8424C>G (p.Asp2808Glu) c.5688C>G (p.Asp1896Glu) c.4581C>G (p.Asp1527Glu) c.8607C>G (p.Asp2869Glu) c.4359C>G (p.Asp1453Glu) c.7587C>G (p.Asp2529Glu) | |
8 | g.99819517C>T | CA4824531 | VPS13B | c.8802C>T (p.Asp2934=) n.8872C>T c.*4484C>T (n.*4484C>T) c.8727C>T (p.Asp2909=) c.8799C>T (p.Asp2933=) c.8724C>T (p.Asp2908=) c.8424C>T (p.Asp2808=) c.5688C>T (p.Asp1896=) c.4581C>T (p.Asp1527=) c.8607C>T (p.Asp2869=) c.4359C>T (p.Asp1453=) c.7587C>T (p.Asp2529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819518G>A | CA4824532 | VPS13B | c.8803G>A (p.Glu2935Lys) n.8873G>A c.*4485G>A (n.*4485G>A) c.8728G>A (p.Glu2910Lys) c.8800G>A (p.Glu2934Lys) c.8725G>A (p.Glu2909Lys) c.8425G>A (p.Glu2809Lys) c.5689G>A (p.Glu1897Lys) c.4582G>A (p.Glu1528Lys) c.8608G>A (p.Glu2870Lys) c.4360G>A (p.Glu1454Lys) c.7588G>A (p.Glu2530Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99819518G>C | CA371776453 | VPS13B | c.8803G>C (p.Glu2935Gln) n.8873G>C c.*4485G>C (n.*4485G>C) c.8728G>C (p.Glu2910Gln) c.8800G>C (p.Glu2934Gln) c.8725G>C (p.Glu2909Gln) c.8425G>C (p.Glu2809Gln) c.5689G>C (p.Glu1897Gln) c.4582G>C (p.Glu1528Gln) c.8608G>C (p.Glu2870Gln) c.4360G>C (p.Glu1454Gln) c.7588G>C (p.Glu2530Gln) | gnomAD v4 |
8 | g.99819518G>T | CA371776455 | VPS13B | c.8803G>T (p.Glu2935Ter) n.8873G>T c.*4485G>T (n.*4485G>T) c.8728G>T (p.Glu2910Ter) c.8800G>T (p.Glu2934Ter) c.8725G>T (p.Glu2909Ter) c.8425G>T (p.Glu2809Ter) c.5689G>T (p.Glu1897Ter) c.4582G>T (p.Glu1528Ter) c.8608G>T (p.Glu2870Ter) c.4360G>T (p.Glu1454Ter) c.7588G>T (p.Glu2530Ter) | COSMIC COSMIC |
8 | g.99819519A>C | CA371776456 | VPS13B | c.8804A>C (p.Glu2935Ala) n.8874A>C c.*4486A>C (n.*4486A>C) c.8729A>C (p.Glu2910Ala) c.8801A>C (p.Glu2934Ala) c.8726A>C (p.Glu2909Ala) c.8426A>C (p.Glu2809Ala) c.5690A>C (p.Glu1897Ala) c.4583A>C (p.Glu1528Ala) c.8609A>C (p.Glu2870Ala) c.4361A>C (p.Glu1454Ala) c.7589A>C (p.Glu2530Ala) | |
8 | g.99819519A>G | CA371776457 | VPS13B | c.8804A>G (p.Glu2935Gly) n.8874A>G c.*4486A>G (n.*4486A>G) c.8729A>G (p.Glu2910Gly) c.8801A>G (p.Glu2934Gly) c.8726A>G (p.Glu2909Gly) c.8426A>G (p.Glu2809Gly) c.5690A>G (p.Glu1897Gly) c.4583A>G (p.Glu1528Gly) c.8609A>G (p.Glu2870Gly) c.4361A>G (p.Glu1454Gly) c.7589A>G (p.Glu2530Gly) | |
8 | g.99819519A>T | CA371776458 | VPS13B | c.8804A>T (p.Glu2935Val) n.8874A>T c.*4486A>T (n.*4486A>T) c.8729A>T (p.Glu2910Val) c.8801A>T (p.Glu2934Val) c.8726A>T (p.Glu2909Val) c.8426A>T (p.Glu2809Val) c.5690A>T (p.Glu1897Val) c.4583A>T (p.Glu1528Val) c.8609A>T (p.Glu2870Val) c.4361A>T (p.Glu1454Val) c.7589A>T (p.Glu2530Val) | |
8 | g.99819520A>C | CA371776463 | VPS13B | c.8805A>C (p.Glu2935Asp) n.8875A>C c.*4487A>C (n.*4487A>C) c.8730A>C (p.Glu2910Asp) c.8802A>C (p.Glu2934Asp) c.8727A>C (p.Glu2909Asp) c.8427A>C (p.Glu2809Asp) c.5691A>C (p.Glu1897Asp) c.4584A>C (p.Glu1528Asp) c.8610A>C (p.Glu2870Asp) c.4362A>C (p.Glu1454Asp) c.7590A>C (p.Glu2530Asp) | |
8 | g.99819520A>G | CA462339507 | VPS13B | c.8805A>G (p.Glu2935=) n.8875A>G c.*4487A>G (n.*4487A>G) c.8730A>G (p.Glu2910=) c.8802A>G (p.Glu2934=) c.8727A>G (p.Glu2909=) c.8427A>G (p.Glu2809=) c.5691A>G (p.Glu1897=) c.4584A>G (p.Glu1528=) c.8610A>G (p.Glu2870=) c.4362A>G (p.Glu1454=) c.7590A>G (p.Glu2530=) | ClinVar dbSNP |
8 | g.99819520A>T | CA371776461 | VPS13B | c.8805A>T (p.Glu2935Asp) n.8875A>T c.*4487A>T (n.*4487A>T) c.8730A>T (p.Glu2910Asp) c.8802A>T (p.Glu2934Asp) c.8727A>T (p.Glu2909Asp) c.8427A>T (p.Glu2809Asp) c.5691A>T (p.Glu1897Asp) c.4584A>T (p.Glu1528Asp) c.8610A>T (p.Glu2870Asp) c.4362A>T (p.Glu1454Asp) c.7590A>T (p.Glu2530Asp) | |
8 | g.99819521T>A | CA371776465 | VPS13B | c.8806T>A (p.Phe2936Ile) n.8876T>A c.*4488T>A (n.*4488T>A) c.8731T>A (p.Phe2911Ile) c.8803T>A (p.Phe2935Ile) c.8728T>A (p.Phe2910Ile) c.8428T>A (p.Phe2810Ile) c.5692T>A (p.Phe1898Ile) c.4585T>A (p.Phe1529Ile) c.8611T>A (p.Phe2871Ile) c.4363T>A (p.Phe1455Ile) c.7591T>A (p.Phe2531Ile) | |
8 | g.99819521T>C | CA371776469 | VPS13B | c.8806T>C (p.Phe2936Leu) n.8876T>C c.*4488T>C (n.*4488T>C) c.8731T>C (p.Phe2911Leu) c.8803T>C (p.Phe2935Leu) c.8728T>C (p.Phe2910Leu) c.8428T>C (p.Phe2810Leu) c.5692T>C (p.Phe1898Leu) c.4585T>C (p.Phe1529Leu) c.8611T>C (p.Phe2871Leu) c.4363T>C (p.Phe1455Leu) c.7591T>C (p.Phe2531Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99819521T>G | CA371776467 | VPS13B | c.8806T>G (p.Phe2936Val) n.8876T>G c.*4488T>G (n.*4488T>G) c.8731T>G (p.Phe2911Val) c.8803T>G (p.Phe2935Val) c.8728T>G (p.Phe2910Val) c.8428T>G (p.Phe2810Val) c.5692T>G (p.Phe1898Val) c.4585T>G (p.Phe1529Val) c.8611T>G (p.Phe2871Val) c.4363T>G (p.Phe1455Val) c.7591T>G (p.Phe2531Val) | |
8 | g.99819522T>A | CA371776471 | VPS13B | c.8807T>A (p.Phe2936Tyr) n.8877T>A c.*4489T>A (n.*4489T>A) c.8732T>A (p.Phe2911Tyr) c.8804T>A (p.Phe2935Tyr) c.8729T>A (p.Phe2910Tyr) c.8429T>A (p.Phe2810Tyr) c.5693T>A (p.Phe1898Tyr) c.4586T>A (p.Phe1529Tyr) c.8612T>A (p.Phe2871Tyr) c.4364T>A (p.Phe1455Tyr) c.7592T>A (p.Phe2531Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99819522T>C | CA371776475 | VPS13B | c.8807T>C (p.Phe2936Ser) n.8877T>C c.*4489T>C (n.*4489T>C) c.8732T>C (p.Phe2911Ser) c.8804T>C (p.Phe2935Ser) c.8729T>C (p.Phe2910Ser) c.8429T>C (p.Phe2810Ser) c.5693T>C (p.Phe1898Ser) c.4586T>C (p.Phe1529Ser) c.8612T>C (p.Phe2871Ser) c.4364T>C (p.Phe1455Ser) c.7592T>C (p.Phe2531Ser) | |
8 | g.99819522T>G | CA371776473 | VPS13B | c.8807T>G (p.Phe2936Cys) n.8877T>G c.*4489T>G (n.*4489T>G) c.8732T>G (p.Phe2911Cys) c.8804T>G (p.Phe2935Cys) c.8729T>G (p.Phe2910Cys) c.8429T>G (p.Phe2810Cys) c.5693T>G (p.Phe1898Cys) c.4586T>G (p.Phe1529Cys) c.8612T>G (p.Phe2871Cys) c.4364T>G (p.Phe1455Cys) c.7592T>G (p.Phe2531Cys) | |
8 | g.99819523C>A | CA371776477 | VPS13B | c.8808C>A (p.Phe2936Leu) n.8878C>A c.*4490C>A (n.*4490C>A) c.8733C>A (p.Phe2911Leu) c.8805C>A (p.Phe2935Leu) c.8730C>A (p.Phe2910Leu) c.8430C>A (p.Phe2810Leu) c.5694C>A (p.Phe1898Leu) c.4587C>A (p.Phe1529Leu) c.8613C>A (p.Phe2871Leu) c.4365C>A (p.Phe1455Leu) c.7593C>A (p.Phe2531Leu) | ClinVar dbSNP COSMIC COSMIC |
8 | g.99819523C>G | CA371776478 | VPS13B | c.8808C>G (p.Phe2936Leu) n.8878C>G c.*4490C>G (n.*4490C>G) c.8733C>G (p.Phe2911Leu) c.8805C>G (p.Phe2935Leu) c.8730C>G (p.Phe2910Leu) c.8430C>G (p.Phe2810Leu) c.5694C>G (p.Phe1898Leu) c.4587C>G (p.Phe1529Leu) c.8613C>G (p.Phe2871Leu) c.4365C>G (p.Phe1455Leu) c.7593C>G (p.Phe2531Leu) | |
8 | g.99819523C>T | CA182328736 | VPS13B | c.8808C>T (p.Phe2936=) n.8878C>T c.*4490C>T (n.*4490C>T) c.8733C>T (p.Phe2911=) c.8805C>T (p.Phe2935=) c.8730C>T (p.Phe2910=) c.8430C>T (p.Phe2810=) c.5694C>T (p.Phe1898=) c.4587C>T (p.Phe1529=) c.8613C>T (p.Phe2871=) c.4365C>T (p.Phe1455=) c.7593C>T (p.Phe2531=) | ClinVar dbSNP COSMIC COSMIC |
8 | g.99819524T>A | CA371776481 | VPS13B | c.8809T>A (p.Tyr2937Asn) n.8879T>A c.*4491T>A (n.*4491T>A) c.8734T>A (p.Tyr2912Asn) c.8806T>A (p.Tyr2936Asn) c.8731T>A (p.Tyr2911Asn) c.8431T>A (p.Tyr2811Asn) c.5695T>A (p.Tyr1899Asn) c.4588T>A (p.Tyr1530Asn) c.8614T>A (p.Tyr2872Asn) c.4366T>A (p.Tyr1456Asn) c.7594T>A (p.Tyr2532Asn) | |
8 | g.99819524T>C | CA4824533 | VPS13B | c.8809T>C (p.Tyr2937His) n.8879T>C c.*4491T>C (n.*4491T>C) c.8734T>C (p.Tyr2912His) c.8806T>C (p.Tyr2936His) c.8731T>C (p.Tyr2911His) c.8431T>C (p.Tyr2811His) c.5695T>C (p.Tyr1899His) c.4588T>C (p.Tyr1530His) c.8614T>C (p.Tyr2872His) c.4366T>C (p.Tyr1456His) c.7594T>C (p.Tyr2532His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819524T>G | CA371776483 | VPS13B | c.8809T>G (p.Tyr2937Asp) n.8879T>G c.*4491T>G (n.*4491T>G) c.8734T>G (p.Tyr2912Asp) c.8806T>G (p.Tyr2936Asp) c.8731T>G (p.Tyr2911Asp) c.8431T>G (p.Tyr2811Asp) c.5695T>G (p.Tyr1899Asp) c.4588T>G (p.Tyr1530Asp) c.8614T>G (p.Tyr2872Asp) c.4366T>G (p.Tyr1456Asp) c.7594T>G (p.Tyr2532Asp) | |
8 | g.99819525A>C | CA371776486 | VPS13B | c.8810A>C (p.Tyr2937Ser) n.8880A>C c.*4492A>C (n.*4492A>C) c.8735A>C (p.Tyr2912Ser) c.8807A>C (p.Tyr2936Ser) c.8732A>C (p.Tyr2911Ser) c.8432A>C (p.Tyr2811Ser) c.5696A>C (p.Tyr1899Ser) c.4589A>C (p.Tyr1530Ser) c.8615A>C (p.Tyr2872Ser) c.4367A>C (p.Tyr1456Ser) c.7595A>C (p.Tyr2532Ser) | |
8 | g.99819525A>G | CA4824534 | VPS13B | c.8810A>G (p.Tyr2937Cys) n.8880A>G c.*4492A>G (n.*4492A>G) c.8735A>G (p.Tyr2912Cys) c.8807A>G (p.Tyr2936Cys) c.8732A>G (p.Tyr2911Cys) c.8432A>G (p.Tyr2811Cys) c.5696A>G (p.Tyr1899Cys) c.4589A>G (p.Tyr1530Cys) c.8615A>G (p.Tyr2872Cys) c.4367A>G (p.Tyr1456Cys) c.7595A>G (p.Tyr2532Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819525A>T | CA371776488 | VPS13B | c.8810A>T (p.Tyr2937Phe) n.8880A>T c.*4492A>T (n.*4492A>T) c.8735A>T (p.Tyr2912Phe) c.8807A>T (p.Tyr2936Phe) c.8732A>T (p.Tyr2911Phe) c.8432A>T (p.Tyr2811Phe) c.5696A>T (p.Tyr1899Phe) c.4589A>T (p.Tyr1530Phe) c.8615A>T (p.Tyr2872Phe) c.4367A>T (p.Tyr1456Phe) c.7595A>T (p.Tyr2532Phe) | |
8 | g.99819526T>A | CA371776490 | VPS13B | c.8811T>A (p.Tyr2937Ter) n.8881T>A c.*4493T>A (n.*4493T>A) c.8736T>A (p.Tyr2912Ter) c.8808T>A (p.Tyr2936Ter) c.8733T>A (p.Tyr2911Ter) c.8433T>A (p.Tyr2811Ter) c.5697T>A (p.Tyr1899Ter) c.4590T>A (p.Tyr1530Ter) c.8616T>A (p.Tyr2872Ter) c.4368T>A (p.Tyr1456Ter) c.7596T>A (p.Tyr2532Ter) | |
8 | g.99819526T>C | CA462339508 | VPS13B | c.8811T>C (p.Tyr2937=) n.8881T>C c.*4493T>C (n.*4493T>C) c.8736T>C (p.Tyr2912=) c.8808T>C (p.Tyr2936=) c.8733T>C (p.Tyr2911=) c.8433T>C (p.Tyr2811=) c.5697T>C (p.Tyr1899=) c.4590T>C (p.Tyr1530=) c.8616T>C (p.Tyr2872=) c.4368T>C (p.Tyr1456=) c.7596T>C (p.Tyr2532=) | gnomAD v4 |
8 | g.99819526T>G | CA371776492 | VPS13B | c.8811T>G (p.Tyr2937Ter) n.8881T>G c.*4493T>G (n.*4493T>G) c.8736T>G (p.Tyr2912Ter) c.8808T>G (p.Tyr2936Ter) c.8733T>G (p.Tyr2911Ter) c.8433T>G (p.Tyr2811Ter) c.5697T>G (p.Tyr1899Ter) c.4590T>G (p.Tyr1530Ter) c.8616T>G (p.Tyr2872Ter) c.4368T>G (p.Tyr1456Ter) c.7596T>G (p.Tyr2532Ter) | |
8 | g.99819527G>A | CA371776494 | VPS13B | c.8812G>A (p.Gly2938Arg) n.8882G>A c.*4494G>A (n.*4494G>A) c.8737G>A (p.Gly2913Arg) c.8809G>A (p.Gly2937Arg) c.8734G>A (p.Gly2912Arg) c.8434G>A (p.Gly2812Arg) c.5698G>A (p.Gly1900Arg) c.4591G>A (p.Gly1531Arg) c.8617G>A (p.Gly2873Arg) c.4369G>A (p.Gly1457Arg) c.7597G>A (p.Gly2533Arg) | |
8 | g.99819527G>C | CA371776496 | VPS13B | c.8812G>C (p.Gly2938Arg) n.8882G>C c.*4494G>C (n.*4494G>C) c.8737G>C (p.Gly2913Arg) c.8809G>C (p.Gly2937Arg) c.8734G>C (p.Gly2912Arg) c.8434G>C (p.Gly2812Arg) c.5698G>C (p.Gly1900Arg) c.4591G>C (p.Gly1531Arg) c.8617G>C (p.Gly2873Arg) c.4369G>C (p.Gly1457Arg) c.7597G>C (p.Gly2533Arg) | |
8 | g.99819527G>T | CA4824535 | VPS13B | c.8812G>T (p.Gly2938Trp) n.8882G>T c.*4494G>T (n.*4494G>T) c.8737G>T (p.Gly2913Trp) c.8809G>T (p.Gly2937Trp) c.8734G>T (p.Gly2912Trp) c.8434G>T (p.Gly2812Trp) c.5698G>T (p.Gly1900Trp) c.4591G>T (p.Gly1531Trp) c.8617G>T (p.Gly2873Trp) c.4369G>T (p.Gly1457Trp) c.7597G>T (p.Gly2533Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819528G>A | CA371776499 | VPS13B | c.8813G>A (p.Gly2938Glu) n.8883G>A c.*4495G>A (n.*4495G>A) c.8738G>A (p.Gly2913Glu) c.8810G>A (p.Gly2937Glu) c.8735G>A (p.Gly2912Glu) c.8435G>A (p.Gly2812Glu) c.5699G>A (p.Gly1900Glu) c.4592G>A (p.Gly1531Glu) c.8618G>A (p.Gly2873Glu) c.4370G>A (p.Gly1457Glu) c.7598G>A (p.Gly2533Glu) | COSMIC COSMIC |
8 | g.99819528G>C | CA371776501 | VPS13B | c.8813G>C (p.Gly2938Ala) n.8883G>C c.*4495G>C (n.*4495G>C) c.8738G>C (p.Gly2913Ala) c.8810G>C (p.Gly2937Ala) c.8735G>C (p.Gly2912Ala) c.8435G>C (p.Gly2812Ala) c.5699G>C (p.Gly1900Ala) c.4592G>C (p.Gly1531Ala) c.8618G>C (p.Gly2873Ala) c.4370G>C (p.Gly1457Ala) c.7598G>C (p.Gly2533Ala) | |
8 | g.99819528G>T | CA371776503 | VPS13B | c.8813G>T (p.Gly2938Val) n.8883G>T c.*4495G>T (n.*4495G>T) c.8738G>T (p.Gly2913Val) c.8810G>T (p.Gly2937Val) c.8735G>T (p.Gly2912Val) c.8435G>T (p.Gly2812Val) c.5699G>T (p.Gly1900Val) c.4592G>T (p.Gly1531Val) c.8618G>T (p.Gly2873Val) c.4370G>T (p.Gly1457Val) c.7598G>T (p.Gly2533Val) | |
8 | g.99819529G>A | CA462339509 | VPS13B | c.8814G>A (p.Gly2938=) n.8884G>A c.*4496G>A (n.*4496G>A) c.8739G>A (p.Gly2913=) c.8811G>A (p.Gly2937=) c.8736G>A (p.Gly2912=) c.8436G>A (p.Gly2812=) c.5700G>A (p.Gly1900=) c.4593G>A (p.Gly1531=) c.8619G>A (p.Gly2873=) c.4371G>A (p.Gly1457=) c.7599G>A (p.Gly2533=) | |
8 | g.99819529G>C | CA462339510 | VPS13B | c.8814G>C (p.Gly2938=) n.8884G>C c.*4496G>C (n.*4496G>C) c.8739G>C (p.Gly2913=) c.8811G>C (p.Gly2937=) c.8736G>C (p.Gly2912=) c.8436G>C (p.Gly2812=) c.5700G>C (p.Gly1900=) c.4593G>C (p.Gly1531=) c.8619G>C (p.Gly2873=) c.4371G>C (p.Gly1457=) c.7599G>C (p.Gly2533=) | |
8 | g.99819529G>T | CA207444 | VPS13B | c.8814G>T (p.Gly2938=) n.8884G>T c.*4496G>T (n.*4496G>T) c.8739G>T (p.Gly2913=) c.8811G>T (p.Gly2937=) c.8736G>T (p.Gly2912=) c.8436G>T (p.Gly2812=) c.5700G>T (p.Gly1900=) c.4593G>T (p.Gly1531=) c.8619G>T (p.Gly2873=) c.4371G>T (p.Gly1457=) c.7599G>T (p.Gly2533=) | ClinVar dbSNP gnomAD v4 |
8 | g.99819530C>A | CA371776507 | VPS13B | c.8815C>A (p.Pro2939Thr) n.8885C>A c.*4497C>A (n.*4497C>A) c.8740C>A (p.Pro2914Thr) c.8812C>A (p.Pro2938Thr) c.8737C>A (p.Pro2913Thr) c.8437C>A (p.Pro2813Thr) c.5701C>A (p.Pro1901Thr) c.4594C>A (p.Pro1532Thr) c.8620C>A (p.Pro2874Thr) c.4372C>A (p.Pro1458Thr) c.7600C>A (p.Pro2534Thr) | |
8 | g.99819530C>G | CA371776511 | VPS13B | c.8815C>G (p.Pro2939Ala) n.8885C>G c.*4497C>G (n.*4497C>G) c.8740C>G (p.Pro2914Ala) c.8812C>G (p.Pro2938Ala) c.8737C>G (p.Pro2913Ala) c.8437C>G (p.Pro2813Ala) c.5701C>G (p.Pro1901Ala) c.4594C>G (p.Pro1532Ala) c.8620C>G (p.Pro2874Ala) c.4372C>G (p.Pro1458Ala) c.7600C>G (p.Pro2534Ala) | |
8 | g.99819530C>T | CA371776509 | VPS13B | c.8815C>T (p.Pro2939Ser) n.8885C>T c.*4497C>T (n.*4497C>T) c.8740C>T (p.Pro2914Ser) c.8812C>T (p.Pro2938Ser) c.8737C>T (p.Pro2913Ser) c.8437C>T (p.Pro2813Ser) c.5701C>T (p.Pro1901Ser) c.4594C>T (p.Pro1532Ser) c.8620C>T (p.Pro2874Ser) c.4372C>T (p.Pro1458Ser) c.7600C>T (p.Pro2534Ser) | |
8 | g.99819531del | CA462339511 | VPS13B | c.8816del (p.Pro2939GlnfsTer22) n.8886del c.*4498del (n.*4498del) c.8741del (p.Pro2914GlnfsTer22) c.8813del (p.Pro2938GlnfsTer22) c.8738del (p.Pro2913GlnfsTer22) c.8438del (p.Pro2813GlnfsTer22) c.5702del (p.Pro1901GlnfsTer22) c.4595del (p.Pro1532GlnfsTer22) c.8621del (p.Pro2874GlnfsTer22) c.4373del (p.Pro1458GlnfsTer22) c.7601del (p.Pro2534GlnfsTer22) | |
8 | g.99819531C>A | CA371776513 | VPS13B | c.8816C>A (p.Pro2939Gln) n.8886C>A c.*4498C>A (n.*4498C>A) c.8741C>A (p.Pro2914Gln) c.8813C>A (p.Pro2938Gln) c.8738C>A (p.Pro2913Gln) c.8438C>A (p.Pro2813Gln) c.5702C>A (p.Pro1901Gln) c.4595C>A (p.Pro1532Gln) c.8621C>A (p.Pro2874Gln) c.4373C>A (p.Pro1458Gln) c.7601C>A (p.Pro2534Gln) | |
8 | g.99819531C>G | CA371776515 | VPS13B | c.8816C>G (p.Pro2939Arg) n.8886C>G c.*4498C>G (n.*4498C>G) c.8741C>G (p.Pro2914Arg) c.8813C>G (p.Pro2938Arg) c.8738C>G (p.Pro2913Arg) c.8438C>G (p.Pro2813Arg) c.5702C>G (p.Pro1901Arg) c.4595C>G (p.Pro1532Arg) c.8621C>G (p.Pro2874Arg) c.4373C>G (p.Pro1458Arg) c.7601C>G (p.Pro2534Arg) | |
8 | g.99819531C>T | CA4824536 | VPS13B | c.8816C>T (p.Pro2939Leu) n.8886C>T c.*4498C>T (n.*4498C>T) c.8741C>T (p.Pro2914Leu) c.8813C>T (p.Pro2938Leu) c.8738C>T (p.Pro2913Leu) c.8438C>T (p.Pro2813Leu) c.5702C>T (p.Pro1901Leu) c.4595C>T (p.Pro1532Leu) c.8621C>T (p.Pro2874Leu) c.4373C>T (p.Pro1458Leu) c.7601C>T (p.Pro2534Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99819531_99819546del | CA2697550098 | VPS13B | c.8816_8831del (p.Pro2939HisfsTer17) n.8886_8901del c.*4498_*4513del (n.*4498_*4513del) c.8741_8756del (p.Pro2914HisfsTer17) c.8813_8828del (p.Pro2938HisfsTer17) c.8738_8753del (p.Pro2913HisfsTer17) c.8438_8453del (p.Pro2813HisfsTer17) c.5702_5717del (p.Pro1901HisfsTer17) c.4595_4610del (p.Pro1532HisfsTer17) c.8621_8636del (p.Pro2874HisfsTer17) c.4373_4388del (p.Pro1458HisfsTer17) c.7601_7616del (p.Pro2534HisfsTer17) | ClinVar |
8 | g.99819532A>C | CA462339512 | VPS13B | c.8817A>C (p.Pro2939=) n.8887A>C c.*4499A>C (n.*4499A>C) c.8742A>C (p.Pro2914=) c.8814A>C (p.Pro2938=) c.8739A>C (p.Pro2913=) c.8439A>C (p.Pro2813=) c.5703A>C (p.Pro1901=) c.4596A>C (p.Pro1532=) c.8622A>C (p.Pro2874=) c.4374A>C (p.Pro1458=) c.7602A>C (p.Pro2534=) | |
8 | g.99819532A>G | CA182328755 | VPS13B | c.8817A>G (p.Pro2939=) n.8887A>G c.*4499A>G (n.*4499A>G) c.8742A>G (p.Pro2914=) c.8814A>G (p.Pro2938=) c.8739A>G (p.Pro2913=) c.8439A>G (p.Pro2813=) c.5703A>G (p.Pro1901=) c.4596A>G (p.Pro1532=) c.8622A>G (p.Pro2874=) c.4374A>G (p.Pro1458=) c.7602A>G (p.Pro2534=) | dbSNP |
8 | g.99819532A>T | CA462339513 | VPS13B | c.8817A>T (p.Pro2939=) n.8887A>T c.*4499A>T (n.*4499A>T) c.8742A>T (p.Pro2914=) c.8814A>T (p.Pro2938=) c.8739A>T (p.Pro2913=) c.8439A>T (p.Pro2813=) c.5703A>T (p.Pro1901=) c.4596A>T (p.Pro1532=) c.8622A>T (p.Pro2874=) c.4374A>T (p.Pro1458=) c.7602A>T (p.Pro2534=) | |
8 | g.99819533G>A | CA371776518 | VPS13B | c.8818G>A (p.Glu2940Lys) n.8888G>A c.*4500G>A (n.*4500G>A) c.8743G>A (p.Glu2915Lys) c.8815G>A (p.Glu2939Lys) c.8740G>A (p.Glu2914Lys) c.8440G>A (p.Glu2814Lys) c.5704G>A (p.Glu1902Lys) c.4597G>A (p.Glu1533Lys) c.8623G>A (p.Glu2875Lys) c.4375G>A (p.Glu1459Lys) c.7603G>A (p.Glu2535Lys) | |
8 | g.99819533G>C | CA371776520 | VPS13B | c.8818G>C (p.Glu2940Gln) n.8888G>C c.*4500G>C (n.*4500G>C) c.8743G>C (p.Glu2915Gln) c.8815G>C (p.Glu2939Gln) c.8740G>C (p.Glu2914Gln) c.8440G>C (p.Glu2814Gln) c.5704G>C (p.Glu1902Gln) c.4597G>C (p.Glu1533Gln) c.8623G>C (p.Glu2875Gln) c.4375G>C (p.Glu1459Gln) c.7603G>C (p.Glu2535Gln) | |
8 | g.99819533G>T | CA371776522 | VPS13B | c.8818G>T (p.Glu2940Ter) n.8888G>T c.*4500G>T (n.*4500G>T) c.8743G>T (p.Glu2915Ter) c.8815G>T (p.Glu2939Ter) c.8740G>T (p.Glu2914Ter) c.8440G>T (p.Glu2814Ter) c.5704G>T (p.Glu1902Ter) c.4597G>T (p.Glu1533Ter) c.8623G>T (p.Glu2875Ter) c.4375G>T (p.Glu1459Ter) c.7603G>T (p.Glu2535Ter) |