Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99861836_99861845del | CA16041272 | VPS13B | c.*274_*283del (n.*274_*283del) n.11250_11259del c.*6862_*6871del (n.*6862_*6871del) c.11105_11114del (p.Ser3702TrpfsTer?) c.11180_11189del (p.Ser3727TrpfsTer?) c.11177_11186del (p.Ser3726TrpfsTer?) c.11102_11111del (p.Ser3701TrpfsTer?) c.10802_10811del (p.Ser3601TrpfsTer?) c.8066_8075del (p.Ser2689TrpfsTer?) c.6959_6968del (p.Ser2320TrpfsTer?) c.10985_10994del (p.Ser3662TrpfsTer?) c.6737_6746del (p.Ser2246TrpfsTer?) c.9965_9974del (p.Ser3322TrpfsTer?) | ClinVar dbSNP |
8 | g.99861841G>A | CA371790457 | VPS13B | c.*279G>A (n.*279G>A) n.11255G>A c.*6867G>A (n.*6867G>A) c.11110G>A (p.Asp3704Asn) c.11185G>A (p.Asp3729Asn) c.11182G>A (p.Asp3728Asn) c.11107G>A (p.Asp3703Asn) c.10807G>A (p.Asp3603Asn) c.8071G>A (p.Asp2691Asn) c.6964G>A (p.Asp2322Asn) c.10990G>A (p.Asp3664Asn) c.6742G>A (p.Asp2248Asn) c.9970G>A (p.Asp3324Asn) | COSMIC COSMIC |
8 | g.99861841G>C | CA371790455 | VPS13B | c.*279G>C (n.*279G>C) n.11255G>C c.*6867G>C (n.*6867G>C) c.11110G>C (p.Asp3704His) c.11185G>C (p.Asp3729His) c.11182G>C (p.Asp3728His) c.11107G>C (p.Asp3703His) c.10807G>C (p.Asp3603His) c.8071G>C (p.Asp2691His) c.6964G>C (p.Asp2322His) c.10990G>C (p.Asp3664His) c.6742G>C (p.Asp2248His) c.9970G>C (p.Asp3324His) | |
8 | g.99861841G>T | CA371790453 | VPS13B | c.*279G>T (n.*279G>T) n.11255G>T c.*6867G>T (n.*6867G>T) c.11110G>T (p.Asp3704Tyr) c.11185G>T (p.Asp3729Tyr) c.11182G>T (p.Asp3728Tyr) c.11107G>T (p.Asp3703Tyr) c.10807G>T (p.Asp3603Tyr) c.8071G>T (p.Asp2691Tyr) c.6964G>T (p.Asp2322Tyr) c.10990G>T (p.Asp3664Tyr) c.6742G>T (p.Asp2248Tyr) c.9970G>T (p.Asp3324Tyr) | gnomAD v4 |
8 | g.99861842A>C | CA371790460 | VPS13B | c.*280A>C (n.*280A>C) n.11256A>C c.*6868A>C (n.*6868A>C) c.11111A>C (p.Asp3704Ala) c.11186A>C (p.Asp3729Ala) c.11183A>C (p.Asp3728Ala) c.11108A>C (p.Asp3703Ala) c.10808A>C (p.Asp3603Ala) c.8072A>C (p.Asp2691Ala) c.6965A>C (p.Asp2322Ala) c.10991A>C (p.Asp3664Ala) c.6743A>C (p.Asp2248Ala) c.9971A>C (p.Asp3324Ala) | |
8 | g.99861842A>G | CA371790461 | VPS13B | c.*280A>G (n.*280A>G) n.11256A>G c.*6868A>G (n.*6868A>G) c.11111A>G (p.Asp3704Gly) c.11186A>G (p.Asp3729Gly) c.11183A>G (p.Asp3728Gly) c.11108A>G (p.Asp3703Gly) c.10808A>G (p.Asp3603Gly) c.8072A>G (p.Asp2691Gly) c.6965A>G (p.Asp2322Gly) c.10991A>G (p.Asp3664Gly) c.6743A>G (p.Asp2248Gly) c.9971A>G (p.Asp3324Gly) | gnomAD v4 |
8 | g.99861842A>T | CA371790462 | VPS13B | c.*280A>T (n.*280A>T) n.11256A>T c.*6868A>T (n.*6868A>T) c.11111A>T (p.Asp3704Val) c.11186A>T (p.Asp3729Val) c.11183A>T (p.Asp3728Val) c.11108A>T (p.Asp3703Val) c.10808A>T (p.Asp3603Val) c.8072A>T (p.Asp2691Val) c.6965A>T (p.Asp2322Val) c.10991A>T (p.Asp3664Val) c.6743A>T (p.Asp2248Val) c.9971A>T (p.Asp3324Val) | |
8 | g.99861843T>A | CA371790465 | VPS13B | c.*281T>A (n.*281T>A) n.11257T>A c.*6869T>A (n.*6869T>A) c.11112T>A (p.Asp3704Glu) c.11187T>A (p.Asp3729Glu) c.11184T>A (p.Asp3728Glu) c.11109T>A (p.Asp3703Glu) c.10809T>A (p.Asp3603Glu) c.8073T>A (p.Asp2691Glu) c.6966T>A (p.Asp2322Glu) c.10992T>A (p.Asp3664Glu) c.6744T>A (p.Asp2248Glu) c.9972T>A (p.Asp3324Glu) | |
8 | g.99861843T>C | CA462338074 | VPS13B | c.*281T>C (n.*281T>C) n.11257T>C c.*6869T>C (n.*6869T>C) c.11112T>C (p.Asp3704=) c.11187T>C (p.Asp3729=) c.11184T>C (p.Asp3728=) c.11109T>C (p.Asp3703=) c.10809T>C (p.Asp3603=) c.8073T>C (p.Asp2691=) c.6966T>C (p.Asp2322=) c.10992T>C (p.Asp3664=) c.6744T>C (p.Asp2248=) c.9972T>C (p.Asp3324=) | |
8 | g.99861843T>G | CA371790467 | VPS13B | c.*281T>G (n.*281T>G) n.11257T>G c.*6869T>G (n.*6869T>G) c.11112T>G (p.Asp3704Glu) c.11187T>G (p.Asp3729Glu) c.11184T>G (p.Asp3728Glu) c.11109T>G (p.Asp3703Glu) c.10809T>G (p.Asp3603Glu) c.8073T>G (p.Asp2691Glu) c.6966T>G (p.Asp2322Glu) c.10992T>G (p.Asp3664Glu) c.6744T>G (p.Asp2248Glu) c.9972T>G (p.Asp3324Glu) | gnomAD v4 |
8 | g.99861844G>A | CA4825146 | VPS13B | c.*282G>A (n.*282G>A) n.11258G>A c.*6870G>A (n.*6870G>A) c.11113G>A (p.Glu3705Lys) c.11188G>A (p.Glu3730Lys) c.11185G>A (p.Glu3729Lys) c.11110G>A (p.Glu3704Lys) c.10810G>A (p.Glu3604Lys) c.8074G>A (p.Glu2692Lys) c.6967G>A (p.Glu2323Lys) c.10993G>A (p.Glu3665Lys) c.6745G>A (p.Glu2249Lys) c.9973G>A (p.Glu3325Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861844G>C | CA371790470 | VPS13B | c.*282G>C (n.*282G>C) n.11258G>C c.*6870G>C (n.*6870G>C) c.11113G>C (p.Glu3705Gln) c.11188G>C (p.Glu3730Gln) c.11185G>C (p.Glu3729Gln) c.11110G>C (p.Glu3704Gln) c.10810G>C (p.Glu3604Gln) c.8074G>C (p.Glu2692Gln) c.6967G>C (p.Glu2323Gln) c.10993G>C (p.Glu3665Gln) c.6745G>C (p.Glu2249Gln) c.9973G>C (p.Glu3325Gln) | |
8 | g.99861844G>T | CA182321424 | VPS13B | c.*282G>T (n.*282G>T) n.11258G>T c.*6870G>T (n.*6870G>T) c.11113G>T (p.Glu3705Ter) c.11188G>T (p.Glu3730Ter) c.11185G>T (p.Glu3729Ter) c.11110G>T (p.Glu3704Ter) c.10810G>T (p.Glu3604Ter) c.8074G>T (p.Glu2692Ter) c.6967G>T (p.Glu2323Ter) c.10993G>T (p.Glu3665Ter) c.6745G>T (p.Glu2249Ter) c.9973G>T (p.Glu3325Ter) | dbSNP gnomAD v4 |
8 | g.99861845A>C | CA371790474 | VPS13B | c.*283A>C (n.*283A>C) n.11259A>C c.*6871A>C (n.*6871A>C) c.11114A>C (p.Glu3705Ala) c.11189A>C (p.Glu3730Ala) c.11186A>C (p.Glu3729Ala) c.11111A>C (p.Glu3704Ala) c.10811A>C (p.Glu3604Ala) c.8075A>C (p.Glu2692Ala) c.6968A>C (p.Glu2323Ala) c.10994A>C (p.Glu3665Ala) c.6746A>C (p.Glu2249Ala) c.9974A>C (p.Glu3325Ala) | |
8 | g.99861845A>G | CA371790476 | VPS13B | c.*283A>G (n.*283A>G) n.11259A>G c.*6871A>G (n.*6871A>G) c.11114A>G (p.Glu3705Gly) c.11189A>G (p.Glu3730Gly) c.11186A>G (p.Glu3729Gly) c.11111A>G (p.Glu3704Gly) c.10811A>G (p.Glu3604Gly) c.8075A>G (p.Glu2692Gly) c.6968A>G (p.Glu2323Gly) c.10994A>G (p.Glu3665Gly) c.6746A>G (p.Glu2249Gly) c.9974A>G (p.Glu3325Gly) | |
8 | g.99861845A>T | CA4825147 | VPS13B | c.*283A>T (n.*283A>T) n.11259A>T c.*6871A>T (n.*6871A>T) c.11114A>T (p.Glu3705Val) c.11189A>T (p.Glu3730Val) c.11186A>T (p.Glu3729Val) c.11111A>T (p.Glu3704Val) c.10811A>T (p.Glu3604Val) c.8075A>T (p.Glu2692Val) c.6968A>T (p.Glu2323Val) c.10994A>T (p.Glu3665Val) c.6746A>T (p.Glu2249Val) c.9974A>T (p.Glu3325Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861846G>A | CA462338075 | VPS13B | c.*284G>A (n.*284G>A) n.11260G>A c.*6872G>A (n.*6872G>A) c.11115G>A (p.Glu3705=) c.11190G>A (p.Glu3730=) c.11187G>A (p.Glu3729=) c.11112G>A (p.Glu3704=) c.10812G>A (p.Glu3604=) c.8076G>A (p.Glu2692=) c.6969G>A (p.Glu2323=) c.10995G>A (p.Glu3665=) c.6747G>A (p.Glu2249=) c.9975G>A (p.Glu3325=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861846G>C | CA371790478 | VPS13B | c.*284G>C (n.*284G>C) n.11260G>C c.*6872G>C (n.*6872G>C) c.11115G>C (p.Glu3705Asp) c.11190G>C (p.Glu3730Asp) c.11187G>C (p.Glu3729Asp) c.11112G>C (p.Glu3704Asp) c.10812G>C (p.Glu3604Asp) c.8076G>C (p.Glu2692Asp) c.6969G>C (p.Glu2323Asp) c.10995G>C (p.Glu3665Asp) c.6747G>C (p.Glu2249Asp) c.9975G>C (p.Glu3325Asp) | |
8 | g.99861846G>T | CA371790480 | VPS13B | c.*284G>T (n.*284G>T) n.11260G>T c.*6872G>T (n.*6872G>T) c.11115G>T (p.Glu3705Asp) c.11190G>T (p.Glu3730Asp) c.11187G>T (p.Glu3729Asp) c.11112G>T (p.Glu3704Asp) c.10812G>T (p.Glu3604Asp) c.8076G>T (p.Glu2692Asp) c.6969G>T (p.Glu2323Asp) c.10995G>T (p.Glu3665Asp) c.6747G>T (p.Glu2249Asp) c.9975G>T (p.Glu3325Asp) | |
8 | g.99861847G>A | CA371790486 | VPS13B | c.*285G>A (n.*285G>A) n.11261G>A c.*6873G>A (n.*6873G>A) c.11116G>A (p.Glu3706Lys) c.11191G>A (p.Glu3731Lys) c.11188G>A (p.Glu3730Lys) c.11113G>A (p.Glu3705Lys) c.10813G>A (p.Glu3605Lys) c.8077G>A (p.Glu2693Lys) c.6970G>A (p.Glu2324Lys) c.10996G>A (p.Glu3666Lys) c.6748G>A (p.Glu2250Lys) c.9976G>A (p.Glu3326Lys) | gnomAD v4 |
8 | g.99861847G>C | CA371790484 | VPS13B | c.*285G>C (n.*285G>C) n.11261G>C c.*6873G>C (n.*6873G>C) c.11116G>C (p.Glu3706Gln) c.11191G>C (p.Glu3731Gln) c.11188G>C (p.Glu3730Gln) c.11113G>C (p.Glu3705Gln) c.10813G>C (p.Glu3605Gln) c.8077G>C (p.Glu2693Gln) c.6970G>C (p.Glu2324Gln) c.10996G>C (p.Glu3666Gln) c.6748G>C (p.Glu2250Gln) c.9976G>C (p.Glu3326Gln) | |
8 | g.99861847G>T | CA371790482 | VPS13B | c.*285G>T (n.*285G>T) n.11261G>T c.*6873G>T (n.*6873G>T) c.11116G>T (p.Glu3706Ter) c.11191G>T (p.Glu3731Ter) c.11188G>T (p.Glu3730Ter) c.11113G>T (p.Glu3705Ter) c.10813G>T (p.Glu3605Ter) c.8077G>T (p.Glu2693Ter) c.6970G>T (p.Glu2324Ter) c.10996G>T (p.Glu3666Ter) c.6748G>T (p.Glu2250Ter) c.9976G>T (p.Glu3326Ter) | |
8 | g.99861848A>C | CA371790487 | VPS13B | c.*286A>C (n.*286A>C) n.11262A>C c.*6874A>C (n.*6874A>C) c.11117A>C (p.Glu3706Ala) c.11192A>C (p.Glu3731Ala) c.11189A>C (p.Glu3730Ala) c.11114A>C (p.Glu3705Ala) c.10814A>C (p.Glu3605Ala) c.8078A>C (p.Glu2693Ala) c.6971A>C (p.Glu2324Ala) c.10997A>C (p.Glu3666Ala) c.6749A>C (p.Glu2250Ala) c.9977A>C (p.Glu3326Ala) | |
8 | g.99861848A>G | CA371790489 | VPS13B | c.*286A>G (n.*286A>G) n.11262A>G c.*6874A>G (n.*6874A>G) c.11117A>G (p.Glu3706Gly) c.11192A>G (p.Glu3731Gly) c.11189A>G (p.Glu3730Gly) c.11114A>G (p.Glu3705Gly) c.10814A>G (p.Glu3605Gly) c.8078A>G (p.Glu2693Gly) c.6971A>G (p.Glu2324Gly) c.10997A>G (p.Glu3666Gly) c.6749A>G (p.Glu2250Gly) c.9977A>G (p.Glu3326Gly) | gnomAD v4 |
8 | g.99861848A>T | CA371790491 | VPS13B | c.*286A>T (n.*286A>T) n.11262A>T c.*6874A>T (n.*6874A>T) c.11117A>T (p.Glu3706Val) c.11192A>T (p.Glu3731Val) c.11189A>T (p.Glu3730Val) c.11114A>T (p.Glu3705Val) c.10814A>T (p.Glu3605Val) c.8078A>T (p.Glu2693Val) c.6971A>T (p.Glu2324Val) c.10997A>T (p.Glu3666Val) c.6749A>T (p.Glu2250Val) c.9977A>T (p.Glu3326Val) | gnomAD v4 |
8 | g.99861849G>A | CA4825148 | VPS13B | c.*287G>A (n.*287G>A) n.11263G>A c.*6875G>A (n.*6875G>A) c.11118G>A (p.Glu3706=) c.11193G>A (p.Glu3731=) c.11190G>A (p.Glu3730=) c.11115G>A (p.Glu3705=) c.10815G>A (p.Glu3605=) c.8079G>A (p.Glu2693=) c.6972G>A (p.Glu2324=) c.10998G>A (p.Glu3666=) c.6750G>A (p.Glu2250=) c.9978G>A (p.Glu3326=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861849G>C | CA371790495 | VPS13B | c.*287G>C (n.*287G>C) n.11263G>C c.*6875G>C (n.*6875G>C) c.11118G>C (p.Glu3706Asp) c.11193G>C (p.Glu3731Asp) c.11190G>C (p.Glu3730Asp) c.11115G>C (p.Glu3705Asp) c.10815G>C (p.Glu3605Asp) c.8079G>C (p.Glu2693Asp) c.6972G>C (p.Glu2324Asp) c.10998G>C (p.Glu3666Asp) c.6750G>C (p.Glu2250Asp) c.9978G>C (p.Glu3326Asp) | |
8 | g.99861849G>T | CA371790497 | VPS13B | c.*287G>T (n.*287G>T) n.11263G>T c.*6875G>T (n.*6875G>T) c.11118G>T (p.Glu3706Asp) c.11193G>T (p.Glu3731Asp) c.11190G>T (p.Glu3730Asp) c.11115G>T (p.Glu3705Asp) c.10815G>T (p.Glu3605Asp) c.8079G>T (p.Glu2693Asp) c.6972G>T (p.Glu2324Asp) c.10998G>T (p.Glu3666Asp) c.6750G>T (p.Glu2250Asp) c.9978G>T (p.Glu3326Asp) | gnomAD v4 |
8 | g.99861850C>A | CA371790499 | VPS13B | c.*288C>A (n.*288C>A) n.11264C>A c.*6876C>A (n.*6876C>A) c.11119C>A (p.His3707Asn) c.11194C>A (p.His3732Asn) c.11191C>A (p.His3731Asn) c.11116C>A (p.His3706Asn) c.10816C>A (p.His3606Asn) c.8080C>A (p.His2694Asn) c.6973C>A (p.His2325Asn) c.10999C>A (p.His3667Asn) c.6751C>A (p.His2251Asn) c.9979C>A (p.His3327Asn) | gnomAD v4 |
8 | g.99861850C>G | CA371790500 | VPS13B | c.*288C>G (n.*288C>G) n.11264C>G c.*6876C>G (n.*6876C>G) c.11119C>G (p.His3707Asp) c.11194C>G (p.His3732Asp) c.11191C>G (p.His3731Asp) c.11116C>G (p.His3706Asp) c.10816C>G (p.His3606Asp) c.8080C>G (p.His2694Asp) c.6973C>G (p.His2325Asp) c.10999C>G (p.His3667Asp) c.6751C>G (p.His2251Asp) c.9979C>G (p.His3327Asp) | |
8 | g.99861850C>T | CA371790502 | VPS13B | c.*288C>T (n.*288C>T) n.11264C>T c.*6876C>T (n.*6876C>T) c.11119C>T (p.His3707Tyr) c.11194C>T (p.His3732Tyr) c.11191C>T (p.His3731Tyr) c.11116C>T (p.His3706Tyr) c.10816C>T (p.His3606Tyr) c.8080C>T (p.His2694Tyr) c.6973C>T (p.His2325Tyr) c.10999C>T (p.His3667Tyr) c.6751C>T (p.His2251Tyr) c.9979C>T (p.His3327Tyr) | |
8 | g.99861851A>C | CA371790504 | VPS13B | c.*289A>C (n.*289A>C) n.11265A>C c.*6877A>C (n.*6877A>C) c.11120A>C (p.His3707Pro) c.11195A>C (p.His3732Pro) c.11192A>C (p.His3731Pro) c.11117A>C (p.His3706Pro) c.10817A>C (p.His3606Pro) c.8081A>C (p.His2694Pro) c.6974A>C (p.His2325Pro) c.11000A>C (p.His3667Pro) c.6752A>C (p.His2251Pro) c.9980A>C (p.His3327Pro) | |
8 | g.99861851A>G | CA371790506 | VPS13B | c.*289A>G (n.*289A>G) n.11265A>G c.*6877A>G (n.*6877A>G) c.11120A>G (p.His3707Arg) c.11195A>G (p.His3732Arg) c.11192A>G (p.His3731Arg) c.11117A>G (p.His3706Arg) c.10817A>G (p.His3606Arg) c.8081A>G (p.His2694Arg) c.6974A>G (p.His2325Arg) c.11000A>G (p.His3667Arg) c.6752A>G (p.His2251Arg) c.9980A>G (p.His3327Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861851A>T | CA371790508 | VPS13B | c.*289A>T (n.*289A>T) n.11265A>T c.*6877A>T (n.*6877A>T) c.11120A>T (p.His3707Leu) c.11195A>T (p.His3732Leu) c.11192A>T (p.His3731Leu) c.11117A>T (p.His3706Leu) c.10817A>T (p.His3606Leu) c.8081A>T (p.His2694Leu) c.6974A>T (p.His2325Leu) c.11000A>T (p.His3667Leu) c.6752A>T (p.His2251Leu) c.9980A>T (p.His3327Leu) | |
8 | g.99861852C>A | CA371790509 | VPS13B | c.*290C>A (n.*290C>A) n.11266C>A c.*6878C>A (n.*6878C>A) c.11121C>A (p.His3707Gln) c.11196C>A (p.His3732Gln) c.11193C>A (p.His3731Gln) c.11118C>A (p.His3706Gln) c.10818C>A (p.His3606Gln) c.8082C>A (p.His2694Gln) c.6975C>A (p.His2325Gln) c.11001C>A (p.His3667Gln) c.6753C>A (p.His2251Gln) c.9981C>A (p.His3327Gln) | gnomAD v4 |
8 | g.99861852C>G | CA371790511 | VPS13B | c.*290C>G (n.*290C>G) n.11266C>G c.*6878C>G (n.*6878C>G) c.11121C>G (p.His3707Gln) c.11196C>G (p.His3732Gln) c.11193C>G (p.His3731Gln) c.11118C>G (p.His3706Gln) c.10818C>G (p.His3606Gln) c.8082C>G (p.His2694Gln) c.6975C>G (p.His2325Gln) c.11001C>G (p.His3667Gln) c.6753C>G (p.His2251Gln) c.9981C>G (p.His3327Gln) | |
8 | g.99861852C>T | CA462338076 | VPS13B | c.*290C>T (n.*290C>T) n.11266C>T c.*6878C>T (n.*6878C>T) c.11121C>T (p.His3707=) c.11196C>T (p.His3732=) c.11193C>T (p.His3731=) c.11118C>T (p.His3706=) c.10818C>T (p.His3606=) c.8082C>T (p.His2694=) c.6975C>T (p.His2325=) c.11001C>T (p.His3667=) c.6753C>T (p.His2251=) c.9981C>T (p.His3327=) | gnomAD v4 |
8 | g.99861853T>A | CA371790515 | VPS13B | c.*291T>A (n.*291T>A) n.11267T>A c.*6879T>A (n.*6879T>A) c.11122T>A (p.Tyr3708Asn) c.11197T>A (p.Tyr3733Asn) c.11194T>A (p.Tyr3732Asn) c.11119T>A (p.Tyr3707Asn) c.10819T>A (p.Tyr3607Asn) c.8083T>A (p.Tyr2695Asn) c.6976T>A (p.Tyr2326Asn) c.11002T>A (p.Tyr3668Asn) c.6754T>A (p.Tyr2252Asn) c.9982T>A (p.Tyr3328Asn) | |
8 | g.99861853T>C | CA371790516 | VPS13B | c.*291T>C (n.*291T>C) n.11267T>C c.*6879T>C (n.*6879T>C) c.11122T>C (p.Tyr3708His) c.11197T>C (p.Tyr3733His) c.11194T>C (p.Tyr3732His) c.11119T>C (p.Tyr3707His) c.10819T>C (p.Tyr3607His) c.8083T>C (p.Tyr2695His) c.6976T>C (p.Tyr2326His) c.11002T>C (p.Tyr3668His) c.6754T>C (p.Tyr2252His) c.9982T>C (p.Tyr3328His) | gnomAD v4 |
8 | g.99861853T>G | CA371790514 | VPS13B | c.*291T>G (n.*291T>G) n.11267T>G c.*6879T>G (n.*6879T>G) c.11122T>G (p.Tyr3708Asp) c.11197T>G (p.Tyr3733Asp) c.11194T>G (p.Tyr3732Asp) c.11119T>G (p.Tyr3707Asp) c.10819T>G (p.Tyr3607Asp) c.8083T>G (p.Tyr2695Asp) c.6976T>G (p.Tyr2326Asp) c.11002T>G (p.Tyr3668Asp) c.6754T>G (p.Tyr2252Asp) c.9982T>G (p.Tyr3328Asp) | |
8 | g.99861854A>C | CA371790517 | VPS13B | c.*292A>C (n.*292A>C) n.11268A>C c.*6880A>C (n.*6880A>C) c.11123A>C (p.Tyr3708Ser) c.11198A>C (p.Tyr3733Ser) c.11195A>C (p.Tyr3732Ser) c.11120A>C (p.Tyr3707Ser) c.10820A>C (p.Tyr3607Ser) c.8084A>C (p.Tyr2695Ser) c.6977A>C (p.Tyr2326Ser) c.11003A>C (p.Tyr3668Ser) c.6755A>C (p.Tyr2252Ser) c.9983A>C (p.Tyr3328Ser) | |
8 | g.99861854A>G | CA371790520 | VPS13B | c.*292A>G (n.*292A>G) n.11268A>G c.*6880A>G (n.*6880A>G) c.11123A>G (p.Tyr3708Cys) c.11198A>G (p.Tyr3733Cys) c.11195A>G (p.Tyr3732Cys) c.11120A>G (p.Tyr3707Cys) c.10820A>G (p.Tyr3607Cys) c.8084A>G (p.Tyr2695Cys) c.6977A>G (p.Tyr2326Cys) c.11003A>G (p.Tyr3668Cys) c.6755A>G (p.Tyr2252Cys) c.9983A>G (p.Tyr3328Cys) | dbSNP |
8 | g.99861854A>T | CA371790522 | VPS13B | c.*292A>T (n.*292A>T) n.11268A>T c.*6880A>T (n.*6880A>T) c.11123A>T (p.Tyr3708Phe) c.11198A>T (p.Tyr3733Phe) c.11195A>T (p.Tyr3732Phe) c.11120A>T (p.Tyr3707Phe) c.10820A>T (p.Tyr3607Phe) c.8084A>T (p.Tyr2695Phe) c.6977A>T (p.Tyr2326Phe) c.11003A>T (p.Tyr3668Phe) c.6755A>T (p.Tyr2252Phe) c.9983A>T (p.Tyr3328Phe) | |
8 | g.99861855C>A | CA371790524 | VPS13B | c.*293C>A (n.*293C>A) n.11269C>A c.*6881C>A (n.*6881C>A) c.11124C>A (p.Tyr3708Ter) c.11199C>A (p.Tyr3733Ter) c.11196C>A (p.Tyr3732Ter) c.11121C>A (p.Tyr3707Ter) c.10821C>A (p.Tyr3607Ter) c.8085C>A (p.Tyr2695Ter) c.6978C>A (p.Tyr2326Ter) c.11004C>A (p.Tyr3668Ter) c.6756C>A (p.Tyr2252Ter) c.9984C>A (p.Tyr3328Ter) | gnomAD v4 |
8 | g.99861855C>G | CA371790526 | VPS13B | c.*293C>G (n.*293C>G) n.11269C>G c.*6881C>G (n.*6881C>G) c.11124C>G (p.Tyr3708Ter) c.11199C>G (p.Tyr3733Ter) c.11196C>G (p.Tyr3732Ter) c.11121C>G (p.Tyr3707Ter) c.10821C>G (p.Tyr3607Ter) c.8085C>G (p.Tyr2695Ter) c.6978C>G (p.Tyr2326Ter) c.11004C>G (p.Tyr3668Ter) c.6756C>G (p.Tyr2252Ter) c.9984C>G (p.Tyr3328Ter) | ClinVar dbSNP |
8 | g.99861855C>T | CA462338079 | VPS13B | c.*293C>T (n.*293C>T) n.11269C>T c.*6881C>T (n.*6881C>T) c.11124C>T (p.Tyr3708=) c.11199C>T (p.Tyr3733=) c.11196C>T (p.Tyr3732=) c.11121C>T (p.Tyr3707=) c.10821C>T (p.Tyr3607=) c.8085C>T (p.Tyr2695=) c.6978C>T (p.Tyr2326=) c.11004C>T (p.Tyr3668=) c.6756C>T (p.Tyr2252=) c.9984C>T (p.Tyr3328=) | ClinVar dbSNP |
8 | g.99861855_99861856delinsT | CA16618724 | VPS13B | c.*293_*294delinsT (n.*293_*294delinsT) n.11269_11270delinsT c.*6881_*6882delinsT (n.*6881_*6882delinsT) c.11124_11125delinsT (p.Asn3709ThrfsTer?) c.11199_11200delinsT (p.Asn3734ThrfsTer?) c.11196_11197delinsT (p.Asn3733ThrfsTer?) c.11121_11122delinsT (p.Asn3708ThrfsTer?) c.10821_10822delinsT (p.Asn3608ThrfsTer?) c.8085_8086delinsT (p.Asn2696ThrfsTer?) c.6978_6979delinsT (p.Asn2327ThrfsTer?) c.11004_11005delinsT (p.Asn3669ThrfsTer?) c.6756_6757delinsT (p.Asn2253ThrfsTer?) c.9984_9985delinsT (p.Asn3329ThrfsTer?) | ClinVar dbSNP |
8 | g.99861856A>C | CA371790529 | VPS13B | c.*294A>C (n.*294A>C) n.11270A>C c.*6882A>C (n.*6882A>C) c.11125A>C (p.Asn3709His) c.11200A>C (p.Asn3734His) c.11197A>C (p.Asn3733His) c.11122A>C (p.Asn3708His) c.10822A>C (p.Asn3608His) c.8086A>C (p.Asn2696His) c.6979A>C (p.Asn2327His) c.11005A>C (p.Asn3669His) c.6757A>C (p.Asn2253His) c.9985A>C (p.Asn3329His) | |
8 | g.99861856A>G | CA371790531 | VPS13B | c.*294A>G (n.*294A>G) n.11270A>G c.*6882A>G (n.*6882A>G) c.11125A>G (p.Asn3709Asp) c.11200A>G (p.Asn3734Asp) c.11197A>G (p.Asn3733Asp) c.11122A>G (p.Asn3708Asp) c.10822A>G (p.Asn3608Asp) c.8086A>G (p.Asn2696Asp) c.6979A>G (p.Asn2327Asp) c.11005A>G (p.Asn3669Asp) c.6757A>G (p.Asn2253Asp) c.9985A>G (p.Asn3329Asp) | |
8 | g.99861856A>T | CA371790532 | VPS13B | c.*294A>T (n.*294A>T) n.11270A>T c.*6882A>T (n.*6882A>T) c.11125A>T (p.Asn3709Tyr) c.11200A>T (p.Asn3734Tyr) c.11197A>T (p.Asn3733Tyr) c.11122A>T (p.Asn3708Tyr) c.10822A>T (p.Asn3608Tyr) c.8086A>T (p.Asn2696Tyr) c.6979A>T (p.Asn2327Tyr) c.11005A>T (p.Asn3669Tyr) c.6757A>T (p.Asn2253Tyr) c.9985A>T (p.Asn3329Tyr) | |
8 | g.99861857A>C | CA371790534 | VPS13B | c.*295A>C (n.*295A>C) n.11271A>C c.*6883A>C (n.*6883A>C) c.11126A>C (p.Asn3709Thr) c.11201A>C (p.Asn3734Thr) c.11198A>C (p.Asn3733Thr) c.11123A>C (p.Asn3708Thr) c.10823A>C (p.Asn3608Thr) c.8087A>C (p.Asn2696Thr) c.6980A>C (p.Asn2327Thr) c.11006A>C (p.Asn3669Thr) c.6758A>C (p.Asn2253Thr) c.9986A>C (p.Asn3329Thr) | |
8 | g.99861857A>G | CA371790536 | VPS13B | c.*295A>G (n.*295A>G) n.11271A>G c.*6883A>G (n.*6883A>G) c.11126A>G (p.Asn3709Ser) c.11201A>G (p.Asn3734Ser) c.11198A>G (p.Asn3733Ser) c.11123A>G (p.Asn3708Ser) c.10823A>G (p.Asn3608Ser) c.8087A>G (p.Asn2696Ser) c.6980A>G (p.Asn2327Ser) c.11006A>G (p.Asn3669Ser) c.6758A>G (p.Asn2253Ser) c.9986A>G (p.Asn3329Ser) | gnomAD v4 |
8 | g.99861857A>T | CA371790538 | VPS13B | c.*295A>T (n.*295A>T) n.11271A>T c.*6883A>T (n.*6883A>T) c.11126A>T (p.Asn3709Ile) c.11201A>T (p.Asn3734Ile) c.11198A>T (p.Asn3733Ile) c.11123A>T (p.Asn3708Ile) c.10823A>T (p.Asn3608Ile) c.8087A>T (p.Asn2696Ile) c.6980A>T (p.Asn2327Ile) c.11006A>T (p.Asn3669Ile) c.6758A>T (p.Asn2253Ile) c.9986A>T (p.Asn3329Ile) | |
8 | g.99861858C>A | CA4825149 | VPS13B | c.*296C>A (n.*296C>A) n.11272C>A c.*6884C>A (n.*6884C>A) c.11127C>A (p.Asn3709Lys) c.11202C>A (p.Asn3734Lys) c.11199C>A (p.Asn3733Lys) c.11124C>A (p.Asn3708Lys) c.10824C>A (p.Asn3608Lys) c.8088C>A (p.Asn2696Lys) c.6981C>A (p.Asn2327Lys) c.11007C>A (p.Asn3669Lys) c.6759C>A (p.Asn2253Lys) c.9987C>A (p.Asn3329Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861858C>G | CA371790542 | VPS13B | c.*296C>G (n.*296C>G) n.11272C>G c.*6884C>G (n.*6884C>G) c.11127C>G (p.Asn3709Lys) c.11202C>G (p.Asn3734Lys) c.11199C>G (p.Asn3733Lys) c.11124C>G (p.Asn3708Lys) c.10824C>G (p.Asn3608Lys) c.8088C>G (p.Asn2696Lys) c.6981C>G (p.Asn2327Lys) c.11007C>G (p.Asn3669Lys) c.6759C>G (p.Asn2253Lys) c.9987C>G (p.Asn3329Lys) | |
8 | g.99861858C>T | CA462338084 | VPS13B | c.*296C>T (n.*296C>T) n.11272C>T c.*6884C>T (n.*6884C>T) c.11127C>T (p.Asn3709=) c.11202C>T (p.Asn3734=) c.11199C>T (p.Asn3733=) c.11124C>T (p.Asn3708=) c.10824C>T (p.Asn3608=) c.8088C>T (p.Asn2696=) c.6981C>T (p.Asn2327=) c.11007C>T (p.Asn3669=) c.6759C>T (p.Asn2253=) c.9987C>T (p.Asn3329=) | |
8 | g.99861859C>A | CA462338089 | VPS13B | c.*297C>A (n.*297C>A) n.11273C>A c.*6885C>A (n.*6885C>A) c.11128C>A (p.Arg3710=) c.11203C>A (p.Arg3735=) c.11200C>A (p.Arg3734=) c.11125C>A (p.Arg3709=) c.10825C>A (p.Arg3609=) c.8089C>A (p.Arg2697=) c.6982C>A (p.Arg2328=) c.11008C>A (p.Arg3670=) c.6760C>A (p.Arg2254=) c.9988C>A (p.Arg3330=) | gnomAD v4 COSMIC COSMIC |
8 | g.99861859C>G | CA371790545 | VPS13B | c.*297C>G (n.*297C>G) n.11273C>G c.*6885C>G (n.*6885C>G) c.11128C>G (p.Arg3710Gly) c.11203C>G (p.Arg3735Gly) c.11200C>G (p.Arg3734Gly) c.11125C>G (p.Arg3709Gly) c.10825C>G (p.Arg3609Gly) c.8089C>G (p.Arg2697Gly) c.6982C>G (p.Arg2328Gly) c.11008C>G (p.Arg3670Gly) c.6760C>G (p.Arg2254Gly) c.9988C>G (p.Arg3330Gly) | |
8 | g.99861859C>T | CA4825150 | VPS13B | c.*297C>T (n.*297C>T) n.11273C>T c.*6885C>T (n.*6885C>T) c.11128C>T (p.Arg3710Trp) c.11203C>T (p.Arg3735Trp) c.11200C>T (p.Arg3734Trp) c.11125C>T (p.Arg3709Trp) c.10825C>T (p.Arg3609Trp) c.8089C>T (p.Arg2697Trp) c.6982C>T (p.Arg2328Trp) c.11008C>T (p.Arg3670Trp) c.6760C>T (p.Arg2254Trp) c.9988C>T (p.Arg3330Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99861860G>A | CA182321452 | VPS13B | c.*298G>A (n.*298G>A) n.11274G>A c.*6886G>A (n.*6886G>A) c.11129G>A (p.Arg3710Gln) c.11204G>A (p.Arg3735Gln) c.11201G>A (p.Arg3734Gln) c.11126G>A (p.Arg3709Gln) c.10826G>A (p.Arg3609Gln) c.8090G>A (p.Arg2697Gln) c.6983G>A (p.Arg2328Gln) c.11009G>A (p.Arg3670Gln) c.6761G>A (p.Arg2254Gln) c.9989G>A (p.Arg3330Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99861860G>C | CA182321460 | VPS13B | c.*298G>C (n.*298G>C) n.11274G>C c.*6886G>C (n.*6886G>C) c.11129G>C (p.Arg3710Pro) c.11204G>C (p.Arg3735Pro) c.11201G>C (p.Arg3734Pro) c.11126G>C (p.Arg3709Pro) c.10826G>C (p.Arg3609Pro) c.8090G>C (p.Arg2697Pro) c.6983G>C (p.Arg2328Pro) c.11009G>C (p.Arg3670Pro) c.6761G>C (p.Arg2254Pro) c.9989G>C (p.Arg3330Pro) | dbSNP |
8 | g.99861860G>T | CA371790550 | VPS13B | c.*298G>T (n.*298G>T) n.11274G>T c.*6886G>T (n.*6886G>T) c.11129G>T (p.Arg3710Leu) c.11204G>T (p.Arg3735Leu) c.11201G>T (p.Arg3734Leu) c.11126G>T (p.Arg3709Leu) c.10826G>T (p.Arg3609Leu) c.8090G>T (p.Arg2697Leu) c.6983G>T (p.Arg2328Leu) c.11009G>T (p.Arg3670Leu) c.6761G>T (p.Arg2254Leu) c.9989G>T (p.Arg3330Leu) | gnomAD v4 |
8 | g.99861862_99861865del | CA913128146 | VPS13B | c.*300_*303del (n.*300_*303del) n.11276_11279del c.*6888_*6891del (n.*6888_*6891del) c.11131_11134del (p.Gln3711ArgfsTer?) c.11206_11209del (p.Gln3736ArgfsTer?) c.11203_11206del (p.Gln3735ArgfsTer?) c.11128_11131del (p.Gln3710ArgfsTer?) c.10828_10831del (p.Gln3610ArgfsTer?) c.8092_8095del (p.Gln2698ArgfsTer?) c.6985_6988del (p.Gln2329ArgfsTer?) c.11011_11014del (p.Gln3671ArgfsTer?) c.6763_6766del (p.Gln2255ArgfsTer?) c.9991_9994del (p.Gln3331ArgfsTer?) | |
8 | g.99861861G>A | CA462338098 | VPS13B | c.*299G>A (n.*299G>A) n.11275G>A c.*6887G>A (n.*6887G>A) c.11130G>A (p.Arg3710=) c.11205G>A (p.Arg3735=) c.11202G>A (p.Arg3734=) c.11127G>A (p.Arg3709=) c.10827G>A (p.Arg3609=) c.8091G>A (p.Arg2697=) c.6984G>A (p.Arg2328=) c.11010G>A (p.Arg3670=) c.6762G>A (p.Arg2254=) c.9990G>A (p.Arg3330=) | gnomAD v4 |
8 | g.99861861G>C | CA462338101 | VPS13B | c.*299G>C (n.*299G>C) n.11275G>C c.*6887G>C (n.*6887G>C) c.11130G>C (p.Arg3710=) c.11205G>C (p.Arg3735=) c.11202G>C (p.Arg3734=) c.11127G>C (p.Arg3709=) c.10827G>C (p.Arg3609=) c.8091G>C (p.Arg2697=) c.6984G>C (p.Arg2328=) c.11010G>C (p.Arg3670=) c.6762G>C (p.Arg2254=) c.9990G>C (p.Arg3330=) | |
8 | g.99861861G>T | CA462338104 | VPS13B | c.*299G>T (n.*299G>T) n.11275G>T c.*6887G>T (n.*6887G>T) c.11130G>T (p.Arg3710=) c.11205G>T (p.Arg3735=) c.11202G>T (p.Arg3734=) c.11127G>T (p.Arg3709=) c.10827G>T (p.Arg3609=) c.8091G>T (p.Arg2697=) c.6984G>T (p.Arg2328=) c.11010G>T (p.Arg3670=) c.6762G>T (p.Arg2254=) c.9990G>T (p.Arg3330=) | gnomAD v4 |
8 | g.99861862C>A | CA371790552 | VPS13B | c.*300C>A (n.*300C>A) n.11276C>A c.*6888C>A (n.*6888C>A) c.11131C>A (p.Gln3711Lys) c.11206C>A (p.Gln3736Lys) c.11203C>A (p.Gln3735Lys) c.11128C>A (p.Gln3710Lys) c.10828C>A (p.Gln3610Lys) c.8092C>A (p.Gln2698Lys) c.6985C>A (p.Gln2329Lys) c.11011C>A (p.Gln3671Lys) c.6763C>A (p.Gln2255Lys) c.9991C>A (p.Gln3331Lys) | gnomAD v4 |
8 | g.99861862C>G | CA371790554 | VPS13B | c.*300C>G (n.*300C>G) n.11276C>G c.*6888C>G (n.*6888C>G) c.11131C>G (p.Gln3711Glu) c.11206C>G (p.Gln3736Glu) c.11203C>G (p.Gln3735Glu) c.11128C>G (p.Gln3710Glu) c.10828C>G (p.Gln3610Glu) c.8092C>G (p.Gln2698Glu) c.6985C>G (p.Gln2329Glu) c.11011C>G (p.Gln3671Glu) c.6763C>G (p.Gln2255Glu) c.9991C>G (p.Gln3331Glu) | |
8 | g.99861862C>T | CA371790555 | VPS13B | c.*300C>T (n.*300C>T) n.11276C>T c.*6888C>T (n.*6888C>T) c.11131C>T (p.Gln3711Ter) c.11206C>T (p.Gln3736Ter) c.11203C>T (p.Gln3735Ter) c.11128C>T (p.Gln3710Ter) c.10828C>T (p.Gln3610Ter) c.8092C>T (p.Gln2698Ter) c.6985C>T (p.Gln2329Ter) c.11011C>T (p.Gln3671Ter) c.6763C>T (p.Gln2255Ter) c.9991C>T (p.Gln3331Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861862_99861863insTGG | CA2688071998 | VPS13B | c.*300_*301insTGG (n.*300_*301insTGG) n.11276_11277insTGG c.*6888_*6889insTGG (n.*6888_*6889insTGG) c.11131_11132insTGG (p.Gln3711delinsLeuGlu) c.11206_11207insTGG (p.Gln3736delinsLeuGlu) c.11203_11204insTGG (p.Gln3735delinsLeuGlu) c.11128_11129insTGG (p.Gln3710delinsLeuGlu) c.10828_10829insTGG (p.Gln3610delinsLeuGlu) c.8092_8093insTGG (p.Gln2698delinsLeuGlu) c.6985_6986insTGG (p.Gln2329delinsLeuGlu) c.11011_11012insTGG (p.Gln3671delinsLeuGlu) c.6763_6764insTGG (p.Gln2255delinsLeuGlu) c.9991_9992insTGG (p.Gln3331delinsLeuGlu) | gnomAD v4 |
8 | g.99861863A>C | CA371790557 | VPS13B | c.*301A>C (n.*301A>C) n.11277A>C c.*6889A>C (n.*6889A>C) c.11132A>C (p.Gln3711Pro) c.11207A>C (p.Gln3736Pro) c.11204A>C (p.Gln3735Pro) c.11129A>C (p.Gln3710Pro) c.10829A>C (p.Gln3610Pro) c.8093A>C (p.Gln2698Pro) c.6986A>C (p.Gln2329Pro) c.11012A>C (p.Gln3671Pro) c.6764A>C (p.Gln2255Pro) c.9992A>C (p.Gln3331Pro) | |
8 | g.99861863A>G | CA371790560 | VPS13B | c.*301A>G (n.*301A>G) n.11277A>G c.*6889A>G (n.*6889A>G) c.11132A>G (p.Gln3711Arg) c.11207A>G (p.Gln3736Arg) c.11204A>G (p.Gln3735Arg) c.11129A>G (p.Gln3710Arg) c.10829A>G (p.Gln3610Arg) c.8093A>G (p.Gln2698Arg) c.6986A>G (p.Gln2329Arg) c.11012A>G (p.Gln3671Arg) c.6764A>G (p.Gln2255Arg) c.9992A>G (p.Gln3331Arg) | |
8 | g.99861863A>T | CA371790561 | VPS13B | c.*301A>T (n.*301A>T) n.11277A>T c.*6889A>T (n.*6889A>T) c.11132A>T (p.Gln3711Leu) c.11207A>T (p.Gln3736Leu) c.11204A>T (p.Gln3735Leu) c.11129A>T (p.Gln3710Leu) c.10829A>T (p.Gln3610Leu) c.8093A>T (p.Gln2698Leu) c.6986A>T (p.Gln2329Leu) c.11012A>T (p.Gln3671Leu) c.6764A>T (p.Gln2255Leu) c.9992A>T (p.Gln3331Leu) | |
8 | g.99861868_99861870del | CA4825151 | VPS13B | c.*306_*308del (n.*306_*308del) n.11282_11284del c.*6894_*6896del (n.*6894_*6896del) c.11137_11139del (p.Glu3713del) c.11212_11214del (p.Glu3738del) c.11209_11211del (p.Glu3737del) c.11134_11136del (p.Glu3712del) c.10834_10836del (p.Glu3612del) c.8098_8100del (p.Glu2700del) c.6991_6993del (p.Glu2331del) c.11017_11019del (p.Glu3673del) c.6769_6771del (p.Glu2257del) c.9997_9999del (p.Glu3333del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861864G>A | CA462338139 | VPS13B | c.*302G>A (n.*302G>A) n.11278G>A c.*6890G>A (n.*6890G>A) c.11133G>A (p.Gln3711=) c.11208G>A (p.Gln3736=) c.11205G>A (p.Gln3735=) c.11130G>A (p.Gln3710=) c.10830G>A (p.Gln3610=) c.8094G>A (p.Gln2698=) c.6987G>A (p.Gln2329=) c.11013G>A (p.Gln3671=) c.6765G>A (p.Gln2255=) c.9993G>A (p.Gln3331=) | dbSNP gnomAD v4 |
8 | g.99861864G>C | CA371790566 | VPS13B | c.*302G>C (n.*302G>C) n.11278G>C c.*6890G>C (n.*6890G>C) c.11133G>C (p.Gln3711His) c.11208G>C (p.Gln3736His) c.11205G>C (p.Gln3735His) c.11130G>C (p.Gln3710His) c.10830G>C (p.Gln3610His) c.8094G>C (p.Gln2698His) c.6987G>C (p.Gln2329His) c.11013G>C (p.Gln3671His) c.6765G>C (p.Gln2255His) c.9993G>C (p.Gln3331His) | |
8 | g.99861864G>T | CA371790568 | VPS13B | c.*302G>T (n.*302G>T) n.11278G>T c.*6890G>T (n.*6890G>T) c.11133G>T (p.Gln3711His) c.11208G>T (p.Gln3736His) c.11205G>T (p.Gln3735His) c.11130G>T (p.Gln3710His) c.10830G>T (p.Gln3610His) c.8094G>T (p.Gln2698His) c.6987G>T (p.Gln2329His) c.11013G>T (p.Gln3671His) c.6765G>T (p.Gln2255His) c.9993G>T (p.Gln3331His) | gnomAD v4 |
8 | g.99861865G>A | CA371790569 | VPS13B | c.*303G>A (n.*303G>A) n.11279G>A c.*6891G>A (n.*6891G>A) c.11134G>A (p.Glu3712Lys) c.11209G>A (p.Glu3737Lys) c.11206G>A (p.Glu3736Lys) c.11131G>A (p.Glu3711Lys) c.10831G>A (p.Glu3611Lys) c.8095G>A (p.Glu2699Lys) c.6988G>A (p.Glu2330Lys) c.11014G>A (p.Glu3672Lys) c.6766G>A (p.Glu2256Lys) c.9994G>A (p.Glu3332Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861865G>C | CA371790572 | VPS13B | c.*303G>C (n.*303G>C) n.11279G>C c.*6891G>C (n.*6891G>C) c.11134G>C (p.Glu3712Gln) c.11209G>C (p.Glu3737Gln) c.11206G>C (p.Glu3736Gln) c.11131G>C (p.Glu3711Gln) c.10831G>C (p.Glu3611Gln) c.8095G>C (p.Glu2699Gln) c.6988G>C (p.Glu2330Gln) c.11014G>C (p.Glu3672Gln) c.6766G>C (p.Glu2256Gln) c.9994G>C (p.Glu3332Gln) | |
8 | g.99861865G>T | CA371790571 | VPS13B | c.*303G>T (n.*303G>T) n.11279G>T c.*6891G>T (n.*6891G>T) c.11134G>T (p.Glu3712Ter) c.11209G>T (p.Glu3737Ter) c.11206G>T (p.Glu3736Ter) c.11131G>T (p.Glu3711Ter) c.10831G>T (p.Glu3611Ter) c.8095G>T (p.Glu2699Ter) c.6988G>T (p.Glu2330Ter) c.11014G>T (p.Glu3672Ter) c.6766G>T (p.Glu2256Ter) c.9994G>T (p.Glu3332Ter) | |
8 | g.99861866A>C | CA371790573 | VPS13B | c.*304A>C (n.*304A>C) n.11280A>C c.*6892A>C (n.*6892A>C) c.11135A>C (p.Glu3712Ala) c.11210A>C (p.Glu3737Ala) c.11207A>C (p.Glu3736Ala) c.11132A>C (p.Glu3711Ala) c.10832A>C (p.Glu3611Ala) c.8096A>C (p.Glu2699Ala) c.6989A>C (p.Glu2330Ala) c.11015A>C (p.Glu3672Ala) c.6767A>C (p.Glu2256Ala) c.9995A>C (p.Glu3332Ala) | |
8 | g.99861866A>G | CA371790578 | VPS13B | c.*304A>G (n.*304A>G) n.11280A>G c.*6892A>G (n.*6892A>G) c.11135A>G (p.Glu3712Gly) c.11210A>G (p.Glu3737Gly) c.11207A>G (p.Glu3736Gly) c.11132A>G (p.Glu3711Gly) c.10832A>G (p.Glu3611Gly) c.8096A>G (p.Glu2699Gly) c.6989A>G (p.Glu2330Gly) c.11015A>G (p.Glu3672Gly) c.6767A>G (p.Glu2256Gly) c.9995A>G (p.Glu3332Gly) | |
8 | g.99861866A>T | CA371790576 | VPS13B | c.*304A>T (n.*304A>T) n.11280A>T c.*6892A>T (n.*6892A>T) c.11135A>T (p.Glu3712Val) c.11210A>T (p.Glu3737Val) c.11207A>T (p.Glu3736Val) c.11132A>T (p.Glu3711Val) c.10832A>T (p.Glu3611Val) c.8096A>T (p.Glu2699Val) c.6989A>T (p.Glu2330Val) c.11015A>T (p.Glu3672Val) c.6767A>T (p.Glu2256Val) c.9995A>T (p.Glu3332Val) | gnomAD v4 |
8 | g.99861867G>A | CA462338154 | VPS13B | c.*305G>A (n.*305G>A) n.11281G>A c.*6893G>A (n.*6893G>A) c.11136G>A (p.Glu3712=) c.11211G>A (p.Glu3737=) c.11208G>A (p.Glu3736=) c.11133G>A (p.Glu3711=) c.10833G>A (p.Glu3611=) c.8097G>A (p.Glu2699=) c.6990G>A (p.Glu2330=) c.11016G>A (p.Glu3672=) c.6768G>A (p.Glu2256=) c.9996G>A (p.Glu3332=) | dbSNP |
8 | g.99861867G>C | CA371790580 | VPS13B | c.*305G>C (n.*305G>C) n.11281G>C c.*6893G>C (n.*6893G>C) c.11136G>C (p.Glu3712Asp) c.11211G>C (p.Glu3737Asp) c.11208G>C (p.Glu3736Asp) c.11133G>C (p.Glu3711Asp) c.10833G>C (p.Glu3611Asp) c.8097G>C (p.Glu2699Asp) c.6990G>C (p.Glu2330Asp) c.11016G>C (p.Glu3672Asp) c.6768G>C (p.Glu2256Asp) c.9996G>C (p.Glu3332Asp) | |
8 | g.99861867G>T | CA371790582 | VPS13B | c.*305G>T (n.*305G>T) n.11281G>T c.*6893G>T (n.*6893G>T) c.11136G>T (p.Glu3712Asp) c.11211G>T (p.Glu3737Asp) c.11208G>T (p.Glu3736Asp) c.11133G>T (p.Glu3711Asp) c.10833G>T (p.Glu3611Asp) c.8097G>T (p.Glu2699Asp) c.6990G>T (p.Glu2330Asp) c.11016G>T (p.Glu3672Asp) c.6768G>T (p.Glu2256Asp) c.9996G>T (p.Glu3332Asp) | |
8 | g.99861868G>A | CA371790583 | VPS13B | c.*306G>A (n.*306G>A) n.11282G>A c.*6894G>A (n.*6894G>A) c.11137G>A (p.Glu3713Lys) c.11212G>A (p.Glu3738Lys) c.11209G>A (p.Glu3737Lys) c.11134G>A (p.Glu3712Lys) c.10834G>A (p.Glu3612Lys) c.8098G>A (p.Glu2700Lys) c.6991G>A (p.Glu2331Lys) c.11017G>A (p.Glu3673Lys) c.6769G>A (p.Glu2257Lys) c.9997G>A (p.Glu3333Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861868G>C | CA371790587 | VPS13B | c.*306G>C (n.*306G>C) n.11282G>C c.*6894G>C (n.*6894G>C) c.11137G>C (p.Glu3713Gln) c.11212G>C (p.Glu3738Gln) c.11209G>C (p.Glu3737Gln) c.11134G>C (p.Glu3712Gln) c.10834G>C (p.Glu3612Gln) c.8098G>C (p.Glu2700Gln) c.6991G>C (p.Glu2331Gln) c.11017G>C (p.Glu3673Gln) c.6769G>C (p.Glu2257Gln) c.9997G>C (p.Glu3333Gln) | gnomAD v4 |
8 | g.99861868G>T | CA371790585 | VPS13B | c.*306G>T (n.*306G>T) n.11282G>T c.*6894G>T (n.*6894G>T) c.11137G>T (p.Glu3713Ter) c.11212G>T (p.Glu3738Ter) c.11209G>T (p.Glu3737Ter) c.11134G>T (p.Glu3712Ter) c.10834G>T (p.Glu3612Ter) c.8098G>T (p.Glu2700Ter) c.6991G>T (p.Glu2331Ter) c.11017G>T (p.Glu3673Ter) c.6769G>T (p.Glu2257Ter) c.9997G>T (p.Glu3333Ter) | gnomAD v4 |
8 | g.99861869A>C | CA371790589 | VPS13B | c.*307A>C (n.*307A>C) n.11283A>C c.*6895A>C (n.*6895A>C) c.11138A>C (p.Glu3713Ala) c.11213A>C (p.Glu3738Ala) c.11210A>C (p.Glu3737Ala) c.11135A>C (p.Glu3712Ala) c.10835A>C (p.Glu3612Ala) c.8099A>C (p.Glu2700Ala) c.6992A>C (p.Glu2331Ala) c.11018A>C (p.Glu3673Ala) c.6770A>C (p.Glu2257Ala) c.9998A>C (p.Glu3333Ala) | |
8 | g.99861869A>G | CA371790591 | VPS13B | c.*307A>G (n.*307A>G) n.11283A>G c.*6895A>G (n.*6895A>G) c.11138A>G (p.Glu3713Gly) c.11213A>G (p.Glu3738Gly) c.11210A>G (p.Glu3737Gly) c.11135A>G (p.Glu3712Gly) c.10835A>G (p.Glu3612Gly) c.8099A>G (p.Glu2700Gly) c.6992A>G (p.Glu2331Gly) c.11018A>G (p.Glu3673Gly) c.6770A>G (p.Glu2257Gly) c.9998A>G (p.Glu3333Gly) | dbSNP gnomAD v4 |
8 | g.99861869A>T | CA371790593 | VPS13B | c.*307A>T (n.*307A>T) n.11283A>T c.*6895A>T (n.*6895A>T) c.11138A>T (p.Glu3713Val) c.11213A>T (p.Glu3738Val) c.11210A>T (p.Glu3737Val) c.11135A>T (p.Glu3712Val) c.10835A>T (p.Glu3612Val) c.8099A>T (p.Glu2700Val) c.6992A>T (p.Glu2331Val) c.11018A>T (p.Glu3673Val) c.6770A>T (p.Glu2257Val) c.9998A>T (p.Glu3333Val) | |
8 | g.99861870G>A | CA462338175 | VPS13B | c.*308G>A (n.*308G>A) n.11284G>A c.*6896G>A (n.*6896G>A) c.11139G>A (p.Glu3713=) c.11214G>A (p.Glu3738=) c.11211G>A (p.Glu3737=) c.11136G>A (p.Glu3712=) c.10836G>A (p.Glu3612=) c.8100G>A (p.Glu2700=) c.6993G>A (p.Glu2331=) c.11019G>A (p.Glu3673=) c.6771G>A (p.Glu2257=) c.9999G>A (p.Glu3333=) | ClinVar dbSNP gnomAD v4 |
8 | g.99861870G>C | CA371790595 | VPS13B | c.*308G>C (n.*308G>C) n.11284G>C c.*6896G>C (n.*6896G>C) c.11139G>C (p.Glu3713Asp) c.11214G>C (p.Glu3738Asp) c.11211G>C (p.Glu3737Asp) c.11136G>C (p.Glu3712Asp) c.10836G>C (p.Glu3612Asp) c.8100G>C (p.Glu2700Asp) c.6993G>C (p.Glu2331Asp) c.11019G>C (p.Glu3673Asp) c.6771G>C (p.Glu2257Asp) c.9999G>C (p.Glu3333Asp) | |
8 | g.99861870G>T | CA371790597 | VPS13B | c.*308G>T (n.*308G>T) n.11284G>T c.*6896G>T (n.*6896G>T) c.11139G>T (p.Glu3713Asp) c.11214G>T (p.Glu3738Asp) c.11211G>T (p.Glu3737Asp) c.11136G>T (p.Glu3712Asp) c.10836G>T (p.Glu3612Asp) c.8100G>T (p.Glu2700Asp) c.6993G>T (p.Glu2331Asp) c.11019G>T (p.Glu3673Asp) c.6771G>T (p.Glu2257Asp) c.9999G>T (p.Glu3333Asp) | |
8 | g.99861871T>A | CA371790600 | VPS13B | c.*309T>A (n.*309T>A) n.11285T>A c.*6897T>A (n.*6897T>A) c.11140T>A (p.Trp3714Arg) c.11215T>A (p.Trp3739Arg) c.11212T>A (p.Trp3738Arg) c.11137T>A (p.Trp3713Arg) c.10837T>A (p.Trp3613Arg) c.8101T>A (p.Trp2701Arg) c.6994T>A (p.Trp2332Arg) c.11020T>A (p.Trp3674Arg) c.6772T>A (p.Trp2258Arg) c.10000T>A (p.Trp3334Arg) | |
8 | g.99861871T>C | CA371790602 | VPS13B | c.*309T>C (n.*309T>C) n.11285T>C c.*6897T>C (n.*6897T>C) c.11140T>C (p.Trp3714Arg) c.11215T>C (p.Trp3739Arg) c.11212T>C (p.Trp3738Arg) c.11137T>C (p.Trp3713Arg) c.10837T>C (p.Trp3613Arg) c.8101T>C (p.Trp2701Arg) c.6994T>C (p.Trp2332Arg) c.11020T>C (p.Trp3674Arg) c.6772T>C (p.Trp2258Arg) c.10000T>C (p.Trp3334Arg) | |
8 | g.99861871T>G | CA371790604 | VPS13B | c.*309T>G (n.*309T>G) n.11285T>G c.*6897T>G (n.*6897T>G) c.11140T>G (p.Trp3714Gly) c.11215T>G (p.Trp3739Gly) c.11212T>G (p.Trp3738Gly) c.11137T>G (p.Trp3713Gly) c.10837T>G (p.Trp3613Gly) c.8101T>G (p.Trp2701Gly) c.6994T>G (p.Trp2332Gly) c.11020T>G (p.Trp3674Gly) c.6772T>G (p.Trp2258Gly) c.10000T>G (p.Trp3334Gly) | gnomAD v3 gnomAD v4 |
8 | g.99861872G>A | CA264003 | VPS13B | c.*310G>A (n.*310G>A) n.11286G>A c.*6898G>A (n.*6898G>A) c.11141G>A (p.Trp3714Ter) c.11216G>A (p.Trp3739Ter) c.11213G>A (p.Trp3738Ter) c.11138G>A (p.Trp3713Ter) c.10838G>A (p.Trp3613Ter) c.8102G>A (p.Trp2701Ter) c.6995G>A (p.Trp2332Ter) c.11021G>A (p.Trp3674Ter) c.6773G>A (p.Trp2258Ter) c.10001G>A (p.Trp3334Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.99861872G>C | CA371790608 | VPS13B | c.*310G>C (n.*310G>C) n.11286G>C c.*6898G>C (n.*6898G>C) c.11141G>C (p.Trp3714Ser) c.11216G>C (p.Trp3739Ser) c.11213G>C (p.Trp3738Ser) c.11138G>C (p.Trp3713Ser) c.10838G>C (p.Trp3613Ser) c.8102G>C (p.Trp2701Ser) c.6995G>C (p.Trp2332Ser) c.11021G>C (p.Trp3674Ser) c.6773G>C (p.Trp2258Ser) c.10001G>C (p.Trp3334Ser) | |
8 | g.99861872G>T | CA371790610 | VPS13B | c.*310G>T (n.*310G>T) n.11286G>T c.*6898G>T (n.*6898G>T) c.11141G>T (p.Trp3714Leu) c.11216G>T (p.Trp3739Leu) c.11213G>T (p.Trp3738Leu) c.11138G>T (p.Trp3713Leu) c.10838G>T (p.Trp3613Leu) c.8102G>T (p.Trp2701Leu) c.6995G>T (p.Trp2332Leu) c.11021G>T (p.Trp3674Leu) c.6773G>T (p.Trp2258Leu) c.10001G>T (p.Trp3334Leu) | gnomAD v4 |
8 | g.99861873dup | CA2843184870 | VPS13B | c.*311dup (n.*311dup) n.11287dup c.*6899dup (n.*6899dup) c.11142dup (p.Arg3715AlafsTer?) c.11217dup (p.Arg3740AlafsTer?) c.11214dup (p.Arg3739AlafsTer?) c.11139dup (p.Arg3714AlafsTer?) c.10839dup (p.Arg3614AlafsTer?) c.8103dup (p.Arg2702AlafsTer?) c.6996dup (p.Arg2333AlafsTer?) c.11022dup (p.Arg3675AlafsTer?) c.6774dup (p.Arg2259AlafsTer?) c.10002dup (p.Arg3335AlafsTer?) | |
8 | g.99861873G>A | CA371790617 | VPS13B | c.*311G>A (n.*311G>A) n.11287G>A c.*6899G>A (n.*6899G>A) c.11142G>A (p.Trp3714Ter) c.11217G>A (p.Trp3739Ter) c.11214G>A (p.Trp3738Ter) c.11139G>A (p.Trp3713Ter) c.10839G>A (p.Trp3613Ter) c.8103G>A (p.Trp2701Ter) c.6996G>A (p.Trp2332Ter) c.11022G>A (p.Trp3674Ter) c.6774G>A (p.Trp2258Ter) c.10002G>A (p.Trp3334Ter) | gnomAD v4 |
8 | g.99861873G>C | CA371790613 | VPS13B | c.*311G>C (n.*311G>C) n.11287G>C c.*6899G>C (n.*6899G>C) c.11142G>C (p.Trp3714Cys) c.11217G>C (p.Trp3739Cys) c.11214G>C (p.Trp3738Cys) c.11139G>C (p.Trp3713Cys) c.10839G>C (p.Trp3613Cys) c.8103G>C (p.Trp2701Cys) c.6996G>C (p.Trp2332Cys) c.11022G>C (p.Trp3674Cys) c.6774G>C (p.Trp2258Cys) c.10002G>C (p.Trp3334Cys) | |
8 | g.99861873G>T | CA371790615 | VPS13B | c.*311G>T (n.*311G>T) n.11287G>T c.*6899G>T (n.*6899G>T) c.11142G>T (p.Trp3714Cys) c.11217G>T (p.Trp3739Cys) c.11214G>T (p.Trp3738Cys) c.11139G>T (p.Trp3713Cys) c.10839G>T (p.Trp3613Cys) c.8103G>T (p.Trp2701Cys) c.6996G>T (p.Trp2332Cys) c.11022G>T (p.Trp3674Cys) c.6774G>T (p.Trp2258Cys) c.10002G>T (p.Trp3334Cys) | |
8 | g.99861874C>A | CA462338193 | VPS13B | c.*312C>A (n.*312C>A) n.11288C>A c.*6900C>A (n.*6900C>A) c.11143C>A (p.Arg3715=) c.11218C>A (p.Arg3740=) c.11215C>A (p.Arg3739=) c.11140C>A (p.Arg3714=) c.10840C>A (p.Arg3614=) c.8104C>A (p.Arg2702=) c.6997C>A (p.Arg2333=) c.11023C>A (p.Arg3675=) c.6775C>A (p.Arg2259=) c.10003C>A (p.Arg3335=) | dbSNP gnomAD v4 |
8 | g.99861874C>G | CA371790618 | VPS13B | c.*312C>G (n.*312C>G) n.11288C>G c.*6900C>G (n.*6900C>G) c.11143C>G (p.Arg3715Gly) c.11218C>G (p.Arg3740Gly) c.11215C>G (p.Arg3739Gly) c.11140C>G (p.Arg3714Gly) c.10840C>G (p.Arg3614Gly) c.8104C>G (p.Arg2702Gly) c.6997C>G (p.Arg2333Gly) c.11023C>G (p.Arg3675Gly) c.6775C>G (p.Arg2259Gly) c.10003C>G (p.Arg3335Gly) | |
8 | g.99861874C>T | CA182321480 | VPS13B | c.*312C>T (n.*312C>T) n.11288C>T c.*6900C>T (n.*6900C>T) c.11143C>T (p.Arg3715Trp) c.11218C>T (p.Arg3740Trp) c.11215C>T (p.Arg3739Trp) c.11140C>T (p.Arg3714Trp) c.10840C>T (p.Arg3614Trp) c.8104C>T (p.Arg2702Trp) c.6997C>T (p.Arg2333Trp) c.11023C>T (p.Arg3675Trp) c.6775C>T (p.Arg2259Trp) c.10003C>T (p.Arg3335Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99861875G>A | CA4825152 | VPS13B | c.*313G>A (n.*313G>A) n.11289G>A c.*6901G>A (n.*6901G>A) c.11144G>A (p.Arg3715Gln) c.11219G>A (p.Arg3740Gln) c.11216G>A (p.Arg3739Gln) c.11141G>A (p.Arg3714Gln) c.10841G>A (p.Arg3614Gln) c.8105G>A (p.Arg2702Gln) c.6998G>A (p.Arg2333Gln) c.11024G>A (p.Arg3675Gln) c.6776G>A (p.Arg2259Gln) c.10004G>A (p.Arg3335Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861875G>C | CA371790619 | VPS13B | c.*313G>C (n.*313G>C) n.11289G>C c.*6901G>C (n.*6901G>C) c.11144G>C (p.Arg3715Pro) c.11219G>C (p.Arg3740Pro) c.11216G>C (p.Arg3739Pro) c.11141G>C (p.Arg3714Pro) c.10841G>C (p.Arg3614Pro) c.8105G>C (p.Arg2702Pro) c.6998G>C (p.Arg2333Pro) c.11024G>C (p.Arg3675Pro) c.6776G>C (p.Arg2259Pro) c.10004G>C (p.Arg3335Pro) | |
8 | g.99861875G>T | CA371790620 | VPS13B | c.*313G>T (n.*313G>T) n.11289G>T c.*6901G>T (n.*6901G>T) c.11144G>T (p.Arg3715Leu) c.11219G>T (p.Arg3740Leu) c.11216G>T (p.Arg3739Leu) c.11141G>T (p.Arg3714Leu) c.10841G>T (p.Arg3614Leu) c.8105G>T (p.Arg2702Leu) c.6998G>T (p.Arg2333Leu) c.11024G>T (p.Arg3675Leu) c.6776G>T (p.Arg2259Leu) c.10004G>T (p.Arg3335Leu) | dbSNP gnomAD v4 |
8 | g.99861876dup | CA2843184871 | VPS13B | c.*314dup (n.*314dup) n.11290dup c.*6902dup (n.*6902dup) c.11145dup (p.Arg3716AlafsTer?) c.11220dup (p.Arg3741AlafsTer?) c.11217dup (p.Arg3740AlafsTer?) c.11142dup (p.Arg3715AlafsTer?) c.10842dup (p.Arg3615AlafsTer?) c.8106dup (p.Arg2703AlafsTer?) c.6999dup (p.Arg2334AlafsTer?) c.11025dup (p.Arg3676AlafsTer?) c.6777dup (p.Arg2260AlafsTer?) c.10005dup (p.Arg3336AlafsTer?) | |
8 | g.99861876G>A | CA462338199 | VPS13B | c.*314G>A (n.*314G>A) n.11290G>A c.*6902G>A (n.*6902G>A) c.11145G>A (p.Arg3715=) c.11220G>A (p.Arg3740=) c.11217G>A (p.Arg3739=) c.11142G>A (p.Arg3714=) c.10842G>A (p.Arg3614=) c.8106G>A (p.Arg2702=) c.6999G>A (p.Arg2333=) c.11025G>A (p.Arg3675=) c.6777G>A (p.Arg2259=) c.10005G>A (p.Arg3335=) | gnomAD v4 |
8 | g.99861876G>C | CA462338202 | VPS13B | c.*314G>C (n.*314G>C) n.11290G>C c.*6902G>C (n.*6902G>C) c.11145G>C (p.Arg3715=) c.11220G>C (p.Arg3740=) c.11217G>C (p.Arg3739=) c.11142G>C (p.Arg3714=) c.10842G>C (p.Arg3614=) c.8106G>C (p.Arg2702=) c.6999G>C (p.Arg2333=) c.11025G>C (p.Arg3675=) c.6777G>C (p.Arg2259=) c.10005G>C (p.Arg3335=) | |
8 | g.99861876G>T | CA462338197 | VPS13B | c.*314G>T (n.*314G>T) n.11290G>T c.*6902G>T (n.*6902G>T) c.11145G>T (p.Arg3715=) c.11220G>T (p.Arg3740=) c.11217G>T (p.Arg3739=) c.11142G>T (p.Arg3714=) c.10842G>T (p.Arg3614=) c.8106G>T (p.Arg2702=) c.6999G>T (p.Arg2333=) c.11025G>T (p.Arg3675=) c.6777G>T (p.Arg2259=) c.10005G>T (p.Arg3335=) | COSMIC COSMIC |
8 | g.99861877C>A | CA462338205 | VPS13B | c.*315C>A (n.*315C>A) n.11291C>A c.*6903C>A (n.*6903C>A) c.11146C>A (p.Arg3716=) c.11221C>A (p.Arg3741=) c.11218C>A (p.Arg3740=) c.11143C>A (p.Arg3715=) c.10843C>A (p.Arg3615=) c.8107C>A (p.Arg2703=) c.7000C>A (p.Arg2334=) c.11026C>A (p.Arg3676=) c.6778C>A (p.Arg2260=) c.10006C>A (p.Arg3336=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861877C>G | CA371790622 | VPS13B | c.*315C>G (n.*315C>G) n.11291C>G c.*6903C>G (n.*6903C>G) c.11146C>G (p.Arg3716Gly) c.11221C>G (p.Arg3741Gly) c.11218C>G (p.Arg3740Gly) c.11143C>G (p.Arg3715Gly) c.10843C>G (p.Arg3615Gly) c.8107C>G (p.Arg2703Gly) c.7000C>G (p.Arg2334Gly) c.11026C>G (p.Arg3676Gly) c.6778C>G (p.Arg2260Gly) c.10006C>G (p.Arg3336Gly) | dbSNP gnomAD v4 |
8 | g.99861877C>T | CA4825153 | VPS13B | c.*315C>T (n.*315C>T) n.11291C>T c.*6903C>T (n.*6903C>T) c.11146C>T (p.Arg3716Trp) c.11221C>T (p.Arg3741Trp) c.11218C>T (p.Arg3740Trp) c.11143C>T (p.Arg3715Trp) c.10843C>T (p.Arg3615Trp) c.8107C>T (p.Arg2703Trp) c.7000C>T (p.Arg2334Trp) c.11026C>T (p.Arg3676Trp) c.6778C>T (p.Arg2260Trp) c.10006C>T (p.Arg3336Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99861878G>A | CA4825154 | VPS13B | c.*316G>A (n.*316G>A) n.11292G>A c.*6904G>A (n.*6904G>A) c.11147G>A (p.Arg3716Gln) c.11222G>A (p.Arg3741Gln) c.11219G>A (p.Arg3740Gln) c.11144G>A (p.Arg3715Gln) c.10844G>A (p.Arg3615Gln) c.8108G>A (p.Arg2703Gln) c.7001G>A (p.Arg2334Gln) c.11027G>A (p.Arg3676Gln) c.6779G>A (p.Arg2260Gln) c.10007G>A (p.Arg3336Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861878G>C | CA371790627 | VPS13B | c.*316G>C (n.*316G>C) n.11292G>C c.*6904G>C (n.*6904G>C) c.11147G>C (p.Arg3716Pro) c.11222G>C (p.Arg3741Pro) c.11219G>C (p.Arg3740Pro) c.11144G>C (p.Arg3715Pro) c.10844G>C (p.Arg3615Pro) c.8108G>C (p.Arg2703Pro) c.7001G>C (p.Arg2334Pro) c.11027G>C (p.Arg3676Pro) c.6779G>C (p.Arg2260Pro) c.10007G>C (p.Arg3336Pro) | |
8 | g.99861878G>T | CA371790629 | VPS13B | c.*316G>T (n.*316G>T) n.11292G>T c.*6904G>T (n.*6904G>T) c.11147G>T (p.Arg3716Leu) c.11222G>T (p.Arg3741Leu) c.11219G>T (p.Arg3740Leu) c.11144G>T (p.Arg3715Leu) c.10844G>T (p.Arg3615Leu) c.8108G>T (p.Arg2703Leu) c.7001G>T (p.Arg2334Leu) c.11027G>T (p.Arg3676Leu) c.6779G>T (p.Arg2260Leu) c.10007G>T (p.Arg3336Leu) | |
8 | g.99861879G>A | CA462338225 | VPS13B | c.*317G>A (n.*317G>A) n.11293G>A c.*6905G>A (n.*6905G>A) c.11148G>A (p.Arg3716=) c.11223G>A (p.Arg3741=) c.11220G>A (p.Arg3740=) c.11145G>A (p.Arg3715=) c.10845G>A (p.Arg3615=) c.8109G>A (p.Arg2703=) c.7002G>A (p.Arg2334=) c.11028G>A (p.Arg3676=) c.6780G>A (p.Arg2260=) c.10008G>A (p.Arg3336=) | ClinVar dbSNP gnomAD v4 |
8 | g.99861879G>C | CA462338227 | VPS13B | c.*317G>C (n.*317G>C) n.11293G>C c.*6905G>C (n.*6905G>C) c.11148G>C (p.Arg3716=) c.11223G>C (p.Arg3741=) c.11220G>C (p.Arg3740=) c.11145G>C (p.Arg3715=) c.10845G>C (p.Arg3615=) c.8109G>C (p.Arg2703=) c.7002G>C (p.Arg2334=) c.11028G>C (p.Arg3676=) c.6780G>C (p.Arg2260=) c.10008G>C (p.Arg3336=) | |
8 | g.99861879G>T | CA462338230 | VPS13B | c.*317G>T (n.*317G>T) n.11293G>T c.*6905G>T (n.*6905G>T) c.11148G>T (p.Arg3716=) c.11223G>T (p.Arg3741=) c.11220G>T (p.Arg3740=) c.11145G>T (p.Arg3715=) c.10845G>T (p.Arg3615=) c.8109G>T (p.Arg2703=) c.7002G>T (p.Arg2334=) c.11028G>T (p.Arg3676=) c.6780G>T (p.Arg2260=) c.10008G>T (p.Arg3336=) | |
8 | g.99861880C>A | CA371790634 | VPS13B | c.*318C>A (n.*318C>A) n.11294C>A c.*6906C>A (n.*6906C>A) c.11149C>A (p.Gln3717Lys) c.11224C>A (p.Gln3742Lys) c.11221C>A (p.Gln3741Lys) c.11146C>A (p.Gln3716Lys) c.10846C>A (p.Gln3616Lys) c.8110C>A (p.Gln2704Lys) c.7003C>A (p.Gln2335Lys) c.11029C>A (p.Gln3677Lys) c.6781C>A (p.Gln2261Lys) c.10009C>A (p.Gln3337Lys) | |
8 | g.99861880C>G | CA371790633 | VPS13B | c.*318C>G (n.*318C>G) n.11294C>G c.*6906C>G (n.*6906C>G) c.11149C>G (p.Gln3717Glu) c.11224C>G (p.Gln3742Glu) c.11221C>G (p.Gln3741Glu) c.11146C>G (p.Gln3716Glu) c.10846C>G (p.Gln3616Glu) c.8110C>G (p.Gln2704Glu) c.7003C>G (p.Gln2335Glu) c.11029C>G (p.Gln3677Glu) c.6781C>G (p.Gln2261Glu) c.10009C>G (p.Gln3337Glu) | dbSNP |
8 | g.99861880C>T | CA371790632 | VPS13B | c.*318C>T (n.*318C>T) n.11294C>T c.*6906C>T (n.*6906C>T) c.11149C>T (p.Gln3717Ter) c.11224C>T (p.Gln3742Ter) c.11221C>T (p.Gln3741Ter) c.11146C>T (p.Gln3716Ter) c.10846C>T (p.Gln3616Ter) c.8110C>T (p.Gln2704Ter) c.7003C>T (p.Gln2335Ter) c.11029C>T (p.Gln3677Ter) c.6781C>T (p.Gln2261Ter) c.10009C>T (p.Gln3337Ter) | |
8 | g.99861881A>C | CA371790635 | VPS13B | c.*319A>C (n.*319A>C) n.11295A>C c.*6907A>C (n.*6907A>C) c.11150A>C (p.Gln3717Pro) c.11225A>C (p.Gln3742Pro) c.11222A>C (p.Gln3741Pro) c.11147A>C (p.Gln3716Pro) c.10847A>C (p.Gln3616Pro) c.8111A>C (p.Gln2704Pro) c.7004A>C (p.Gln2335Pro) c.11030A>C (p.Gln3677Pro) c.6782A>C (p.Gln2261Pro) c.10010A>C (p.Gln3337Pro) | |
8 | g.99861881A>G | CA4825155 | VPS13B | c.*319A>G (n.*319A>G) n.11295A>G c.*6907A>G (n.*6907A>G) c.11150A>G (p.Gln3717Arg) c.11225A>G (p.Gln3742Arg) c.11222A>G (p.Gln3741Arg) c.11147A>G (p.Gln3716Arg) c.10847A>G (p.Gln3616Arg) c.8111A>G (p.Gln2704Arg) c.7004A>G (p.Gln2335Arg) c.11030A>G (p.Gln3677Arg) c.6782A>G (p.Gln2261Arg) c.10010A>G (p.Gln3337Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861881A>T | CA371790636 | VPS13B | c.*319A>T (n.*319A>T) n.11295A>T c.*6907A>T (n.*6907A>T) c.11150A>T (p.Gln3717Leu) c.11225A>T (p.Gln3742Leu) c.11222A>T (p.Gln3741Leu) c.11147A>T (p.Gln3716Leu) c.10847A>T (p.Gln3616Leu) c.8111A>T (p.Gln2704Leu) c.7004A>T (p.Gln2335Leu) c.11030A>T (p.Gln3677Leu) c.6782A>T (p.Gln2261Leu) c.10010A>T (p.Gln3337Leu) | |
8 | g.99861882G>A | CA462338245 | VPS13B | c.*320G>A (n.*320G>A) n.11296G>A c.*6908G>A (n.*6908G>A) c.11151G>A (p.Gln3717=) c.11226G>A (p.Gln3742=) c.11223G>A (p.Gln3741=) c.11148G>A (p.Gln3716=) c.10848G>A (p.Gln3616=) c.8112G>A (p.Gln2704=) c.7005G>A (p.Gln2335=) c.11031G>A (p.Gln3677=) c.6783G>A (p.Gln2261=) c.10011G>A (p.Gln3337=) | gnomAD v4 |
8 | g.99861882G>C | CA371790637 | VPS13B | c.*320G>C (n.*320G>C) n.11296G>C c.*6908G>C (n.*6908G>C) c.11151G>C (p.Gln3717His) c.11226G>C (p.Gln3742His) c.11223G>C (p.Gln3741His) c.11148G>C (p.Gln3716His) c.10848G>C (p.Gln3616His) c.8112G>C (p.Gln2704His) c.7005G>C (p.Gln2335His) c.11031G>C (p.Gln3677His) c.6783G>C (p.Gln2261His) c.10011G>C (p.Gln3337His) | |
8 | g.99861882G>T | CA371790638 | VPS13B | c.*320G>T (n.*320G>T) n.11296G>T c.*6908G>T (n.*6908G>T) c.11151G>T (p.Gln3717His) c.11226G>T (p.Gln3742His) c.11223G>T (p.Gln3741His) c.11148G>T (p.Gln3716His) c.10848G>T (p.Gln3616His) c.8112G>T (p.Gln2704His) c.7005G>T (p.Gln2335His) c.11031G>T (p.Gln3677His) c.6783G>T (p.Gln2261His) c.10011G>T (p.Gln3337His) | |
8 | g.99861883C>A | CA371790639 | VPS13B | c.*321C>A (n.*321C>A) n.11297C>A c.*6909C>A (n.*6909C>A) c.11152C>A (p.Leu3718Ile) c.11227C>A (p.Leu3743Ile) c.11224C>A (p.Leu3742Ile) c.11149C>A (p.Leu3717Ile) c.10849C>A (p.Leu3617Ile) c.8113C>A (p.Leu2705Ile) c.7006C>A (p.Leu2336Ile) c.11032C>A (p.Leu3678Ile) c.6784C>A (p.Leu2262Ile) c.10012C>A (p.Leu3338Ile) | gnomAD v4 |
8 | g.99861883C>G | CA371790640 | VPS13B | c.*321C>G (n.*321C>G) n.11297C>G c.*6909C>G (n.*6909C>G) c.11152C>G (p.Leu3718Val) c.11227C>G (p.Leu3743Val) c.11224C>G (p.Leu3742Val) c.11149C>G (p.Leu3717Val) c.10849C>G (p.Leu3617Val) c.8113C>G (p.Leu2705Val) c.7006C>G (p.Leu2336Val) c.11032C>G (p.Leu3678Val) c.6784C>G (p.Leu2262Val) c.10012C>G (p.Leu3338Val) | |
8 | g.99861883C>T | CA371790641 | VPS13B | c.*321C>T (n.*321C>T) n.11297C>T c.*6909C>T (n.*6909C>T) c.11152C>T (p.Leu3718Phe) c.11227C>T (p.Leu3743Phe) c.11224C>T (p.Leu3742Phe) c.11149C>T (p.Leu3717Phe) c.10849C>T (p.Leu3617Phe) c.8113C>T (p.Leu2705Phe) c.7006C>T (p.Leu2336Phe) c.11032C>T (p.Leu3678Phe) c.6784C>T (p.Leu2262Phe) c.10012C>T (p.Leu3338Phe) | |
8 | g.99861884T>A | CA371790642 | VPS13B | c.*322T>A (n.*322T>A) n.11298T>A c.*6910T>A (n.*6910T>A) c.11153T>A (p.Leu3718His) c.11228T>A (p.Leu3743His) c.11225T>A (p.Leu3742His) c.11150T>A (p.Leu3717His) c.10850T>A (p.Leu3617His) c.8114T>A (p.Leu2705His) c.7007T>A (p.Leu2336His) c.11033T>A (p.Leu3678His) c.6785T>A (p.Leu2262His) c.10013T>A (p.Leu3338His) | |
8 | g.99861884T>C | CA371790643 | VPS13B | c.*322T>C (n.*322T>C) n.11298T>C c.*6910T>C (n.*6910T>C) c.11153T>C (p.Leu3718Pro) c.11228T>C (p.Leu3743Pro) c.11225T>C (p.Leu3742Pro) c.11150T>C (p.Leu3717Pro) c.10850T>C (p.Leu3617Pro) c.8114T>C (p.Leu2705Pro) c.7007T>C (p.Leu2336Pro) c.11033T>C (p.Leu3678Pro) c.6785T>C (p.Leu2262Pro) c.10013T>C (p.Leu3338Pro) | |
8 | g.99861884T>G | CA371790644 | VPS13B | c.*322T>G (n.*322T>G) n.11298T>G c.*6910T>G (n.*6910T>G) c.11153T>G (p.Leu3718Arg) c.11228T>G (p.Leu3743Arg) c.11225T>G (p.Leu3742Arg) c.11150T>G (p.Leu3717Arg) c.10850T>G (p.Leu3617Arg) c.8114T>G (p.Leu2705Arg) c.7007T>G (p.Leu2336Arg) c.11033T>G (p.Leu3678Arg) c.6785T>G (p.Leu2262Arg) c.10013T>G (p.Leu3338Arg) | |
8 | g.99861885C>A | CA462338258 | VPS13B | c.*323C>A (n.*323C>A) n.11299C>A c.*6911C>A (n.*6911C>A) c.11154C>A (p.Leu3718=) c.11229C>A (p.Leu3743=) c.11226C>A (p.Leu3742=) c.11151C>A (p.Leu3717=) c.10851C>A (p.Leu3617=) c.8115C>A (p.Leu2705=) c.7008C>A (p.Leu2336=) c.11034C>A (p.Leu3678=) c.6786C>A (p.Leu2262=) c.10014C>A (p.Leu3338=) | |
8 | g.99861885C>G | CA462338261 | VPS13B | c.*323C>G (n.*323C>G) n.11299C>G c.*6911C>G (n.*6911C>G) c.11154C>G (p.Leu3718=) c.11229C>G (p.Leu3743=) c.11226C>G (p.Leu3742=) c.11151C>G (p.Leu3717=) c.10851C>G (p.Leu3617=) c.8115C>G (p.Leu2705=) c.7008C>G (p.Leu2336=) c.11034C>G (p.Leu3678=) c.6786C>G (p.Leu2262=) c.10014C>G (p.Leu3338=) | |
8 | g.99861885C>T | CA182321525 | VPS13B | c.*323C>T (n.*323C>T) n.11299C>T c.*6911C>T (n.*6911C>T) c.11154C>T (p.Leu3718=) c.11229C>T (p.Leu3743=) c.11226C>T (p.Leu3742=) c.11151C>T (p.Leu3717=) c.10851C>T (p.Leu3617=) c.8115C>T (p.Leu2705=) c.7008C>T (p.Leu2336=) c.11034C>T (p.Leu3678=) c.6786C>T (p.Leu2262=) c.10014C>T (p.Leu3338=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861886C>A | CA371790647 | VPS13B | c.*324C>A (n.*324C>A) n.11300C>A c.*6912C>A (n.*6912C>A) c.11155C>A (p.Pro3719Thr) c.11230C>A (p.Pro3744Thr) c.11227C>A (p.Pro3743Thr) c.11152C>A (p.Pro3718Thr) c.10852C>A (p.Pro3618Thr) c.8116C>A (p.Pro2706Thr) c.7009C>A (p.Pro2337Thr) c.11035C>A (p.Pro3679Thr) c.6787C>A (p.Pro2263Thr) c.10015C>A (p.Pro3339Thr) | gnomAD v4 |
8 | g.99861886C>G | CA371790646 | VPS13B | c.*324C>G (n.*324C>G) n.11300C>G c.*6912C>G (n.*6912C>G) c.11155C>G (p.Pro3719Ala) c.11230C>G (p.Pro3744Ala) c.11227C>G (p.Pro3743Ala) c.11152C>G (p.Pro3718Ala) c.10852C>G (p.Pro3618Ala) c.8116C>G (p.Pro2706Ala) c.7009C>G (p.Pro2337Ala) c.11035C>G (p.Pro3679Ala) c.6787C>G (p.Pro2263Ala) c.10015C>G (p.Pro3339Ala) | |
8 | g.99861886C>T | CA371790645 | VPS13B | c.*324C>T (n.*324C>T) n.11300C>T c.*6912C>T (n.*6912C>T) c.11155C>T (p.Pro3719Ser) c.11230C>T (p.Pro3744Ser) c.11227C>T (p.Pro3743Ser) c.11152C>T (p.Pro3718Ser) c.10852C>T (p.Pro3618Ser) c.8116C>T (p.Pro2706Ser) c.7009C>T (p.Pro2337Ser) c.11035C>T (p.Pro3679Ser) c.6787C>T (p.Pro2263Ser) c.10015C>T (p.Pro3339Ser) | |
8 | g.99861887C>A | CA371790648 | VPS13B | c.*325C>A (n.*325C>A) n.11301C>A c.*6913C>A (n.*6913C>A) c.11156C>A (p.Pro3719His) c.11231C>A (p.Pro3744His) c.11228C>A (p.Pro3743His) c.11153C>A (p.Pro3718His) c.10853C>A (p.Pro3618His) c.8117C>A (p.Pro2706His) c.7010C>A (p.Pro2337His) c.11036C>A (p.Pro3679His) c.6788C>A (p.Pro2263His) c.10016C>A (p.Pro3339His) | gnomAD v4 |
8 | g.99861887C>G | CA371790649 | VPS13B | c.*325C>G (n.*325C>G) n.11301C>G c.*6913C>G (n.*6913C>G) c.11156C>G (p.Pro3719Arg) c.11231C>G (p.Pro3744Arg) c.11228C>G (p.Pro3743Arg) c.11153C>G (p.Pro3718Arg) c.10853C>G (p.Pro3618Arg) c.8117C>G (p.Pro2706Arg) c.7010C>G (p.Pro2337Arg) c.11036C>G (p.Pro3679Arg) c.6788C>G (p.Pro2263Arg) c.10016C>G (p.Pro3339Arg) | COSMIC |
8 | g.99861887C>T | CA371790650 | VPS13B | c.*325C>T (n.*325C>T) n.11301C>T c.*6913C>T (n.*6913C>T) c.11156C>T (p.Pro3719Leu) c.11231C>T (p.Pro3744Leu) c.11228C>T (p.Pro3743Leu) c.11153C>T (p.Pro3718Leu) c.10853C>T (p.Pro3618Leu) c.8117C>T (p.Pro2706Leu) c.7010C>T (p.Pro2337Leu) c.11036C>T (p.Pro3679Leu) c.6788C>T (p.Pro2263Leu) c.10016C>T (p.Pro3339Leu) | |
8 | g.99861888C>A | CA462338275 | VPS13B | c.*326C>A (n.*326C>A) n.11302C>A c.*6914C>A (n.*6914C>A) c.11157C>A (p.Pro3719=) c.11232C>A (p.Pro3744=) c.11229C>A (p.Pro3743=) c.11154C>A (p.Pro3718=) c.10854C>A (p.Pro3618=) c.8118C>A (p.Pro2706=) c.7011C>A (p.Pro2337=) c.11037C>A (p.Pro3679=) c.6789C>A (p.Pro2263=) c.10017C>A (p.Pro3339=) | gnomAD v4 |
8 | g.99861888C>G | CA462338277 | VPS13B | c.*326C>G (n.*326C>G) n.11302C>G c.*6914C>G (n.*6914C>G) c.11157C>G (p.Pro3719=) c.11232C>G (p.Pro3744=) c.11229C>G (p.Pro3743=) c.11154C>G (p.Pro3718=) c.10854C>G (p.Pro3618=) c.8118C>G (p.Pro2706=) c.7011C>G (p.Pro2337=) c.11037C>G (p.Pro3679=) c.6789C>G (p.Pro2263=) c.10017C>G (p.Pro3339=) | |
8 | g.99861888C>T | CA4825156 | VPS13B | c.*326C>T (n.*326C>T) n.11302C>T c.*6914C>T (n.*6914C>T) c.11157C>T (p.Pro3719=) c.11232C>T (p.Pro3744=) c.11229C>T (p.Pro3743=) c.11154C>T (p.Pro3718=) c.10854C>T (p.Pro3618=) c.8118C>T (p.Pro2706=) c.7011C>T (p.Pro2337=) c.11037C>T (p.Pro3679=) c.6789C>T (p.Pro2263=) c.10017C>T (p.Pro3339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861889G>A | CA4825157 | VPS13B | c.*327G>A (n.*327G>A) n.11303G>A c.*6915G>A (n.*6915G>A) c.11158G>A (p.Glu3720Lys) c.11233G>A (p.Glu3745Lys) c.11230G>A (p.Glu3744Lys) c.11155G>A (p.Glu3719Lys) c.10855G>A (p.Glu3619Lys) c.8119G>A (p.Glu2707Lys) c.7012G>A (p.Glu2338Lys) c.11038G>A (p.Glu3680Lys) c.6790G>A (p.Glu2264Lys) c.10018G>A (p.Glu3340Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861889G>C | CA371790651 | VPS13B | c.*327G>C (n.*327G>C) n.11303G>C c.*6915G>C (n.*6915G>C) c.11158G>C (p.Glu3720Gln) c.11233G>C (p.Glu3745Gln) c.11230G>C (p.Glu3744Gln) c.11155G>C (p.Glu3719Gln) c.10855G>C (p.Glu3619Gln) c.8119G>C (p.Glu2707Gln) c.7012G>C (p.Glu2338Gln) c.11038G>C (p.Glu3680Gln) c.6790G>C (p.Glu2264Gln) c.10018G>C (p.Glu3340Gln) | gnomAD v4 |
8 | g.99861889G>T | CA371790652 | VPS13B | c.*327G>T (n.*327G>T) n.11303G>T c.*6915G>T (n.*6915G>T) c.11158G>T (p.Glu3720Ter) c.11233G>T (p.Glu3745Ter) c.11230G>T (p.Glu3744Ter) c.11155G>T (p.Glu3719Ter) c.10855G>T (p.Glu3619Ter) c.8119G>T (p.Glu2707Ter) c.7012G>T (p.Glu2338Ter) c.11038G>T (p.Glu3680Ter) c.6790G>T (p.Glu2264Ter) c.10018G>T (p.Glu3340Ter) | ClinVar gnomAD v4 |
8 | g.99861890A>C | CA371790653 | VPS13B | c.*328A>C (n.*328A>C) n.11304A>C c.*6916A>C (n.*6916A>C) c.11159A>C (p.Glu3720Ala) c.11234A>C (p.Glu3745Ala) c.11231A>C (p.Glu3744Ala) c.11156A>C (p.Glu3719Ala) c.10856A>C (p.Glu3619Ala) c.8120A>C (p.Glu2707Ala) c.7013A>C (p.Glu2338Ala) c.11039A>C (p.Glu3680Ala) c.6791A>C (p.Glu2264Ala) c.10019A>C (p.Glu3340Ala) | |
8 | g.99861890A>G | CA371790654 | VPS13B | c.*328A>G (n.*328A>G) n.11304A>G c.*6916A>G (n.*6916A>G) c.11159A>G (p.Glu3720Gly) c.11234A>G (p.Glu3745Gly) c.11231A>G (p.Glu3744Gly) c.11156A>G (p.Glu3719Gly) c.10856A>G (p.Glu3619Gly) c.8120A>G (p.Glu2707Gly) c.7013A>G (p.Glu2338Gly) c.11039A>G (p.Glu3680Gly) c.6791A>G (p.Glu2264Gly) c.10019A>G (p.Glu3340Gly) | |
8 | g.99861890A>T | CA371790655 | VPS13B | c.*328A>T (n.*328A>T) n.11304A>T c.*6916A>T (n.*6916A>T) c.11159A>T (p.Glu3720Val) c.11234A>T (p.Glu3745Val) c.11231A>T (p.Glu3744Val) c.11156A>T (p.Glu3719Val) c.10856A>T (p.Glu3619Val) c.8120A>T (p.Glu2707Val) c.7013A>T (p.Glu2338Val) c.11039A>T (p.Glu3680Val) c.6791A>T (p.Glu2264Val) c.10019A>T (p.Glu3340Val) | |
8 | g.99861891G>A | CA462338329 | VPS13B | c.*329G>A (n.*329G>A) n.11305G>A c.*6917G>A (n.*6917G>A) c.11160G>A (p.Glu3720=) c.11235G>A (p.Glu3745=) c.11232G>A (p.Glu3744=) c.11157G>A (p.Glu3719=) c.10857G>A (p.Glu3619=) c.8121G>A (p.Glu2707=) c.7014G>A (p.Glu2338=) c.11040G>A (p.Glu3680=) c.6792G>A (p.Glu2264=) c.10020G>A (p.Glu3340=) | |
8 | g.99861891G>C | CA371790656 | VPS13B | c.*329G>C (n.*329G>C) n.11305G>C c.*6917G>C (n.*6917G>C) c.11160G>C (p.Glu3720Asp) c.11235G>C (p.Glu3745Asp) c.11232G>C (p.Glu3744Asp) c.11157G>C (p.Glu3719Asp) c.10857G>C (p.Glu3619Asp) c.8121G>C (p.Glu2707Asp) c.7014G>C (p.Glu2338Asp) c.11040G>C (p.Glu3680Asp) c.6792G>C (p.Glu2264Asp) c.10020G>C (p.Glu3340Asp) | dbSNP |
8 | g.99861891G>T | CA371790657 | VPS13B | c.*329G>T (n.*329G>T) n.11305G>T c.*6917G>T (n.*6917G>T) c.11160G>T (p.Glu3720Asp) c.11235G>T (p.Glu3745Asp) c.11232G>T (p.Glu3744Asp) c.11157G>T (p.Glu3719Asp) c.10857G>T (p.Glu3619Asp) c.8121G>T (p.Glu2707Asp) c.7014G>T (p.Glu2338Asp) c.11040G>T (p.Glu3680Asp) c.6792G>T (p.Glu2264Asp) c.10020G>T (p.Glu3340Asp) | |
8 | g.99861892A>C | CA371790659 | VPS13B | c.*330A>C (n.*330A>C) n.11306A>C c.*6918A>C (n.*6918A>C) c.11161A>C (p.Ser3721Arg) c.11236A>C (p.Ser3746Arg) c.11233A>C (p.Ser3745Arg) c.11158A>C (p.Ser3720Arg) c.10858A>C (p.Ser3620Arg) c.8122A>C (p.Ser2708Arg) c.7015A>C (p.Ser2339Arg) c.11041A>C (p.Ser3681Arg) c.6793A>C (p.Ser2265Arg) c.10021A>C (p.Ser3341Arg) | |
8 | g.99861892A>G | CA371790660 | VPS13B | c.*330A>G (n.*330A>G) n.11306A>G c.*6918A>G (n.*6918A>G) c.11161A>G (p.Ser3721Gly) c.11236A>G (p.Ser3746Gly) c.11233A>G (p.Ser3745Gly) c.11158A>G (p.Ser3720Gly) c.10858A>G (p.Ser3620Gly) c.8122A>G (p.Ser2708Gly) c.7015A>G (p.Ser2339Gly) c.11041A>G (p.Ser3681Gly) c.6793A>G (p.Ser2265Gly) c.10021A>G (p.Ser3341Gly) | |
8 | g.99861892A>T | CA371790658 | VPS13B | c.*330A>T (n.*330A>T) n.11306A>T c.*6918A>T (n.*6918A>T) c.11161A>T (p.Ser3721Cys) c.11236A>T (p.Ser3746Cys) c.11233A>T (p.Ser3745Cys) c.11158A>T (p.Ser3720Cys) c.10858A>T (p.Ser3620Cys) c.8122A>T (p.Ser2708Cys) c.7015A>T (p.Ser2339Cys) c.11041A>T (p.Ser3681Cys) c.6793A>T (p.Ser2265Cys) c.10021A>T (p.Ser3341Cys) | |
8 | g.99861892dup | CA2497231636 | VPS13B | c.*330dup (n.*330dup) n.11306dup c.*6918dup (n.*6918dup) c.11161dup (p.Ser3721LysfsTer26) c.11236dup (p.Ser3746LysfsTer26) c.11233dup (p.Ser3745LysfsTer26) c.11158dup (p.Ser3720LysfsTer26) c.10858dup (p.Ser3620LysfsTer26) c.8122dup (p.Ser2708LysfsTer26) c.7015dup (p.Ser2339LysfsTer26) c.11041dup (p.Ser3681LysfsTer26) c.6793dup (p.Ser2265LysfsTer26) c.10021dup (p.Ser3341LysfsTer26) | dbSNP |
8 | g.99861893G>A | CA371790661 | VPS13B | c.*331G>A (n.*331G>A) n.11307G>A c.*6919G>A (n.*6919G>A) c.11162G>A (p.Ser3721Asn) c.11237G>A (p.Ser3746Asn) c.11234G>A (p.Ser3745Asn) c.11159G>A (p.Ser3720Asn) c.10859G>A (p.Ser3620Asn) c.8123G>A (p.Ser2708Asn) c.7016G>A (p.Ser2339Asn) c.11042G>A (p.Ser3681Asn) c.6794G>A (p.Ser2265Asn) c.10022G>A (p.Ser3341Asn) | |
8 | g.99861893G>C | CA371790662 | VPS13B | c.*331G>C (n.*331G>C) n.11307G>C c.*6919G>C (n.*6919G>C) c.11162G>C (p.Ser3721Thr) c.11237G>C (p.Ser3746Thr) c.11234G>C (p.Ser3745Thr) c.11159G>C (p.Ser3720Thr) c.10859G>C (p.Ser3620Thr) c.8123G>C (p.Ser2708Thr) c.7016G>C (p.Ser2339Thr) c.11042G>C (p.Ser3681Thr) c.6794G>C (p.Ser2265Thr) c.10022G>C (p.Ser3341Thr) | |
8 | g.99861893G>T | CA371790663 | VPS13B | c.*331G>T (n.*331G>T) n.11307G>T c.*6919G>T (n.*6919G>T) c.11162G>T (p.Ser3721Ile) c.11237G>T (p.Ser3746Ile) c.11234G>T (p.Ser3745Ile) c.11159G>T (p.Ser3720Ile) c.10859G>T (p.Ser3620Ile) c.8123G>T (p.Ser2708Ile) c.7016G>T (p.Ser2339Ile) c.11042G>T (p.Ser3681Ile) c.6794G>T (p.Ser2265Ile) c.10022G>T (p.Ser3341Ile) | gnomAD v4 |
8 | g.99861893_99861894del | CA16041273 | VPS13B | c.*331_*332del (n.*331_*332del) n.11307_11308del c.*6919_*6920del (n.*6919_*6920del) c.11162_11163del (p.Ser3721ThrfsTer25) c.11237_11238del (p.Ser3746ThrfsTer25) c.11234_11235del (p.Ser3745ThrfsTer25) c.11159_11160del (p.Ser3720ThrfsTer25) c.10859_10860del (p.Ser3620ThrfsTer25) c.8123_8124del (p.Ser2708ThrfsTer25) c.7016_7017del (p.Ser2339ThrfsTer25) c.11042_11043del (p.Ser3681ThrfsTer25) c.6794_6795del (p.Ser2265ThrfsTer25) c.10022_10023del (p.Ser3341ThrfsTer25) | ClinVar dbSNP |
8 | g.99861894C>A | CA371790664 | VPS13B | c.*332C>A (n.*332C>A) n.11308C>A c.*6920C>A (n.*6920C>A) c.11163C>A (p.Ser3721Arg) c.11238C>A (p.Ser3746Arg) c.11235C>A (p.Ser3745Arg) c.11160C>A (p.Ser3720Arg) c.10860C>A (p.Ser3620Arg) c.8124C>A (p.Ser2708Arg) c.7017C>A (p.Ser2339Arg) c.11043C>A (p.Ser3681Arg) c.6795C>A (p.Ser2265Arg) c.10023C>A (p.Ser3341Arg) | gnomAD v4 |
8 | g.99861894C>G | CA371790665 | VPS13B | c.*332C>G (n.*332C>G) n.11308C>G c.*6920C>G (n.*6920C>G) c.11163C>G (p.Ser3721Arg) c.11238C>G (p.Ser3746Arg) c.11235C>G (p.Ser3745Arg) c.11160C>G (p.Ser3720Arg) c.10860C>G (p.Ser3620Arg) c.8124C>G (p.Ser2708Arg) c.7017C>G (p.Ser2339Arg) c.11043C>G (p.Ser3681Arg) c.6795C>G (p.Ser2265Arg) c.10023C>G (p.Ser3341Arg) | |
8 | g.99861894C>T | CA462338350 | VPS13B | c.*332C>T (n.*332C>T) n.11308C>T c.*6920C>T (n.*6920C>T) c.11163C>T (p.Ser3721=) c.11238C>T (p.Ser3746=) c.11235C>T (p.Ser3745=) c.11160C>T (p.Ser3720=) c.10860C>T (p.Ser3620=) c.8124C>T (p.Ser2708=) c.7017C>T (p.Ser2339=) c.11043C>T (p.Ser3681=) c.6795C>T (p.Ser2265=) c.10023C>T (p.Ser3341=) | gnomAD v4 |
8 | g.99861895C>A | CA371790667 | VPS13B | c.*333C>A (n.*333C>A) n.11309C>A c.*6921C>A (n.*6921C>A) c.11164C>A (p.Leu3722Met) c.11239C>A (p.Leu3747Met) c.11236C>A (p.Leu3746Met) c.11161C>A (p.Leu3721Met) c.10861C>A (p.Leu3621Met) c.8125C>A (p.Leu2709Met) c.7018C>A (p.Leu2340Met) c.11044C>A (p.Leu3682Met) c.6796C>A (p.Leu2266Met) c.10024C>A (p.Leu3342Met) | gnomAD v4 |
8 | g.99861895C>G | CA371790666 | VPS13B | c.*333C>G (n.*333C>G) n.11309C>G c.*6921C>G (n.*6921C>G) c.11164C>G (p.Leu3722Val) c.11239C>G (p.Leu3747Val) c.11236C>G (p.Leu3746Val) c.11161C>G (p.Leu3721Val) c.10861C>G (p.Leu3621Val) c.8125C>G (p.Leu2709Val) c.7018C>G (p.Leu2340Val) c.11044C>G (p.Leu3682Val) c.6796C>G (p.Leu2266Val) c.10024C>G (p.Leu3342Val) | |
8 | g.99861895C>T | CA462338356 | VPS13B | c.*333C>T (n.*333C>T) n.11309C>T c.*6921C>T (n.*6921C>T) c.11164C>T (p.Leu3722=) c.11239C>T (p.Leu3747=) c.11236C>T (p.Leu3746=) c.11161C>T (p.Leu3721=) c.10861C>T (p.Leu3621=) c.8125C>T (p.Leu2709=) c.7018C>T (p.Leu2340=) c.11044C>T (p.Leu3682=) c.6796C>T (p.Leu2266=) c.10024C>T (p.Leu3342=) | |
8 | g.99861896T>A | CA371790668 | VPS13B | c.*334T>A (n.*334T>A) n.11310T>A c.*6922T>A (n.*6922T>A) c.11165T>A (p.Leu3722Gln) c.11240T>A (p.Leu3747Gln) c.11237T>A (p.Leu3746Gln) c.11162T>A (p.Leu3721Gln) c.10862T>A (p.Leu3621Gln) c.8126T>A (p.Leu2709Gln) c.7019T>A (p.Leu2340Gln) c.11045T>A (p.Leu3682Gln) c.6797T>A (p.Leu2266Gln) c.10025T>A (p.Leu3342Gln) | |
8 | g.99861896T>C | CA371790669 | VPS13B | c.*334T>C (n.*334T>C) n.11310T>C c.*6922T>C (n.*6922T>C) c.11165T>C (p.Leu3722Pro) c.11240T>C (p.Leu3747Pro) c.11237T>C (p.Leu3746Pro) c.11162T>C (p.Leu3721Pro) c.10862T>C (p.Leu3621Pro) c.8126T>C (p.Leu2709Pro) c.7019T>C (p.Leu2340Pro) c.11045T>C (p.Leu3682Pro) c.6797T>C (p.Leu2266Pro) c.10025T>C (p.Leu3342Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861896T>G | CA371790670 | VPS13B | c.*334T>G (n.*334T>G) n.11310T>G c.*6922T>G (n.*6922T>G) c.11165T>G (p.Leu3722Arg) c.11240T>G (p.Leu3747Arg) c.11237T>G (p.Leu3746Arg) c.11162T>G (p.Leu3721Arg) c.10862T>G (p.Leu3621Arg) c.8126T>G (p.Leu2709Arg) c.7019T>G (p.Leu2340Arg) c.11045T>G (p.Leu3682Arg) c.6797T>G (p.Leu2266Arg) c.10025T>G (p.Leu3342Arg) | |
8 | g.99861897G>A | CA462338364 | VPS13B | c.*335G>A (n.*335G>A) n.11311G>A c.*6923G>A (n.*6923G>A) c.11166G>A (p.Leu3722=) c.11241G>A (p.Leu3747=) c.11238G>A (p.Leu3746=) c.11163G>A (p.Leu3721=) c.10863G>A (p.Leu3621=) c.8127G>A (p.Leu2709=) c.7020G>A (p.Leu2340=) c.11046G>A (p.Leu3682=) c.6798G>A (p.Leu2266=) c.10026G>A (p.Leu3342=) | |
8 | g.99861897G>C | CA462338366 | VPS13B | c.*335G>C (n.*335G>C) n.11311G>C c.*6923G>C (n.*6923G>C) c.11166G>C (p.Leu3722=) c.11241G>C (p.Leu3747=) c.11238G>C (p.Leu3746=) c.11163G>C (p.Leu3721=) c.10863G>C (p.Leu3621=) c.8127G>C (p.Leu2709=) c.7020G>C (p.Leu2340=) c.11046G>C (p.Leu3682=) c.6798G>C (p.Leu2266=) c.10026G>C (p.Leu3342=) | |
8 | g.99861897G>T | CA462338368 | VPS13B | c.*335G>T (n.*335G>T) n.11311G>T c.*6923G>T (n.*6923G>T) c.11166G>T (p.Leu3722=) c.11241G>T (p.Leu3747=) c.11238G>T (p.Leu3746=) c.11163G>T (p.Leu3721=) c.10863G>T (p.Leu3621=) c.8127G>T (p.Leu2709=) c.7020G>T (p.Leu2340=) c.11046G>T (p.Leu3682=) c.6798G>T (p.Leu2266=) c.10026G>T (p.Leu3342=) | gnomAD v4 |
8 | g.99861899dup | CA2843184872 | VPS13B | c.*337dup (n.*337dup) n.11313dup c.*6925dup (n.*6925dup) c.11168dup (p.Glu3724ArgfsTer23) c.11243dup (p.Glu3749ArgfsTer23) c.11240dup (p.Glu3748ArgfsTer23) c.11165dup (p.Glu3723ArgfsTer23) c.10865dup (p.Glu3623ArgfsTer23) c.8129dup (p.Glu2711ArgfsTer23) c.7022dup (p.Glu2342ArgfsTer23) c.11048dup (p.Glu3684ArgfsTer23) c.6800dup (p.Glu2268ArgfsTer23) c.10028dup (p.Glu3344ArgfsTer23) | |
8 | g.99861898G>A | CA371790671 | VPS13B | c.*336G>A (n.*336G>A) n.11312G>A c.*6924G>A (n.*6924G>A) c.11167G>A (p.Gly3723Ser) c.11242G>A (p.Gly3748Ser) c.11239G>A (p.Gly3747Ser) c.11164G>A (p.Gly3722Ser) c.10864G>A (p.Gly3622Ser) c.8128G>A (p.Gly2710Ser) c.7021G>A (p.Gly2341Ser) c.11047G>A (p.Gly3683Ser) c.6799G>A (p.Gly2267Ser) c.10027G>A (p.Gly3343Ser) | ClinVar COSMIC |
8 | g.99861898G>C | CA371790672 | VPS13B | c.*336G>C (n.*336G>C) n.11312G>C c.*6924G>C (n.*6924G>C) c.11167G>C (p.Gly3723Arg) c.11242G>C (p.Gly3748Arg) c.11239G>C (p.Gly3747Arg) c.11164G>C (p.Gly3722Arg) c.10864G>C (p.Gly3622Arg) c.8128G>C (p.Gly2710Arg) c.7021G>C (p.Gly2341Arg) c.11047G>C (p.Gly3683Arg) c.6799G>C (p.Gly2267Arg) c.10027G>C (p.Gly3343Arg) | ClinVar dbSNP |
8 | g.99861898G>T | CA371790673 | VPS13B | c.*336G>T (n.*336G>T) n.11312G>T c.*6924G>T (n.*6924G>T) c.11167G>T (p.Gly3723Cys) c.11242G>T (p.Gly3748Cys) c.11239G>T (p.Gly3747Cys) c.11164G>T (p.Gly3722Cys) c.10864G>T (p.Gly3622Cys) c.8128G>T (p.Gly2710Cys) c.7021G>T (p.Gly2341Cys) c.11047G>T (p.Gly3683Cys) c.6799G>T (p.Gly2267Cys) c.10027G>T (p.Gly3343Cys) | |
8 | g.99861899G>A | CA371790674 | VPS13B | c.*337G>A (n.*337G>A) n.11313G>A c.*6925G>A (n.*6925G>A) c.11168G>A (p.Gly3723Asp) c.11243G>A (p.Gly3748Asp) c.11240G>A (p.Gly3747Asp) c.11165G>A (p.Gly3722Asp) c.10865G>A (p.Gly3622Asp) c.8129G>A (p.Gly2710Asp) c.7022G>A (p.Gly2341Asp) c.11048G>A (p.Gly3683Asp) c.6800G>A (p.Gly2267Asp) c.10028G>A (p.Gly3343Asp) | COSMIC COSMIC |
8 | g.99861899G>C | CA371790676 | VPS13B | c.*337G>C (n.*337G>C) n.11313G>C c.*6925G>C (n.*6925G>C) c.11168G>C (p.Gly3723Ala) c.11243G>C (p.Gly3748Ala) c.11240G>C (p.Gly3747Ala) c.11165G>C (p.Gly3722Ala) c.10865G>C (p.Gly3622Ala) c.8129G>C (p.Gly2710Ala) c.7022G>C (p.Gly2341Ala) c.11048G>C (p.Gly3683Ala) c.6800G>C (p.Gly2267Ala) c.10028G>C (p.Gly3343Ala) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861899G>T | CA371790675 | VPS13B | c.*337G>T (n.*337G>T) n.11313G>T c.*6925G>T (n.*6925G>T) c.11168G>T (p.Gly3723Val) c.11243G>T (p.Gly3748Val) c.11240G>T (p.Gly3747Val) c.11165G>T (p.Gly3722Val) c.10865G>T (p.Gly3622Val) c.8129G>T (p.Gly2710Val) c.7022G>T (p.Gly2341Val) c.11048G>T (p.Gly3683Val) c.6800G>T (p.Gly2267Val) c.10028G>T (p.Gly3343Val) | gnomAD v4 |
8 | g.99861900C>A | CA462338382 | VPS13B | c.*338C>A (n.*338C>A) n.11314C>A c.*6926C>A (n.*6926C>A) c.11169C>A (p.Gly3723=) c.11244C>A (p.Gly3748=) c.11241C>A (p.Gly3747=) c.11166C>A (p.Gly3722=) c.10866C>A (p.Gly3622=) c.8130C>A (p.Gly2710=) c.7023C>A (p.Gly2341=) c.11049C>A (p.Gly3683=) c.6801C>A (p.Gly2267=) c.10029C>A (p.Gly3343=) | gnomAD v4 |
8 | g.99861900C>G | CA462338384 | VPS13B | c.*338C>G (n.*338C>G) n.11314C>G c.*6926C>G (n.*6926C>G) c.11169C>G (p.Gly3723=) c.11244C>G (p.Gly3748=) c.11241C>G (p.Gly3747=) c.11166C>G (p.Gly3722=) c.10866C>G (p.Gly3622=) c.8130C>G (p.Gly2710=) c.7023C>G (p.Gly2341=) c.11049C>G (p.Gly3683=) c.6801C>G (p.Gly2267=) c.10029C>G (p.Gly3343=) | ClinVar dbSNP gnomAD v4 |
8 | g.99861900C>T | CA462338386 | VPS13B | c.*338C>T (n.*338C>T) n.11314C>T c.*6926C>T (n.*6926C>T) c.11169C>T (p.Gly3723=) c.11244C>T (p.Gly3748=) c.11241C>T (p.Gly3747=) c.11166C>T (p.Gly3722=) c.10866C>T (p.Gly3622=) c.8130C>T (p.Gly2710=) c.7023C>T (p.Gly2341=) c.11049C>T (p.Gly3683=) c.6801C>T (p.Gly2267=) c.10029C>T (p.Gly3343=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
8 | g.99861901G>A | CA4825158 | VPS13B | c.*339G>A (n.*339G>A) n.11315G>A c.*6927G>A (n.*6927G>A) c.11170G>A (p.Glu3724Lys) c.11245G>A (p.Glu3749Lys) c.11242G>A (p.Glu3748Lys) c.11167G>A (p.Glu3723Lys) c.10867G>A (p.Glu3623Lys) c.8131G>A (p.Glu2711Lys) c.7024G>A (p.Glu2342Lys) c.11050G>A (p.Glu3684Lys) c.6802G>A (p.Glu2268Lys) c.10030G>A (p.Glu3344Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861901G>C | CA371790677 | VPS13B | c.*339G>C (n.*339G>C) n.11315G>C c.*6927G>C (n.*6927G>C) c.11170G>C (p.Glu3724Gln) c.11245G>C (p.Glu3749Gln) c.11242G>C (p.Glu3748Gln) c.11167G>C (p.Glu3723Gln) c.10867G>C (p.Glu3623Gln) c.8131G>C (p.Glu2711Gln) c.7024G>C (p.Glu2342Gln) c.11050G>C (p.Glu3684Gln) c.6802G>C (p.Glu2268Gln) c.10030G>C (p.Glu3344Gln) | |
8 | g.99861901G>T | CA284770 | VPS13B | c.*339G>T (n.*339G>T) n.11315G>T c.*6927G>T (n.*6927G>T) c.11170G>T (p.Glu3724Ter) c.11245G>T (p.Glu3749Ter) c.11242G>T (p.Glu3748Ter) c.11167G>T (p.Glu3723Ter) c.10867G>T (p.Glu3623Ter) c.8131G>T (p.Glu2711Ter) c.7024G>T (p.Glu2342Ter) c.11050G>T (p.Glu3684Ter) c.6802G>T (p.Glu2268Ter) c.10030G>T (p.Glu3344Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.99861902_99861905dup | CA16042625 | VPS13B | c.*340_*343dup (n.*340_*343dup) n.11316_11319dup c.*6928_*6931dup (n.*6928_*6931dup) c.11171_11174dup (p.Leu3726GlyfsTer22) c.11246_11249dup (p.Leu3751GlyfsTer22) c.11243_11246dup (p.Leu3750GlyfsTer22) c.11168_11171dup (p.Leu3725GlyfsTer22) c.10868_10871dup (p.Leu3625GlyfsTer22) c.8132_8135dup (p.Leu2713GlyfsTer22) c.7025_7028dup (p.Leu2344GlyfsTer22) c.11051_11054dup (p.Leu3686GlyfsTer22) c.6803_6806dup (p.Leu2270GlyfsTer22) c.10031_10034dup (p.Leu3346GlyfsTer22) | ClinVar dbSNP |
8 | g.99861902A>C | CA371790678 | VPS13B | c.*340A>C (n.*340A>C) n.11316A>C c.*6928A>C (n.*6928A>C) c.11171A>C (p.Glu3724Ala) c.11246A>C (p.Glu3749Ala) c.11243A>C (p.Glu3748Ala) c.11168A>C (p.Glu3723Ala) c.10868A>C (p.Glu3623Ala) c.8132A>C (p.Glu2711Ala) c.7025A>C (p.Glu2342Ala) c.11051A>C (p.Glu3684Ala) c.6803A>C (p.Glu2268Ala) c.10031A>C (p.Glu3344Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861902A>G | CA371790679 | VPS13B | c.*340A>G (n.*340A>G) n.11316A>G c.*6928A>G (n.*6928A>G) c.11171A>G (p.Glu3724Gly) c.11246A>G (p.Glu3749Gly) c.11243A>G (p.Glu3748Gly) c.11168A>G (p.Glu3723Gly) c.10868A>G (p.Glu3623Gly) c.8132A>G (p.Glu2711Gly) c.7025A>G (p.Glu2342Gly) c.11051A>G (p.Glu3684Gly) c.6803A>G (p.Glu2268Gly) c.10031A>G (p.Glu3344Gly) | gnomAD v4 |
8 | g.99861902A>T | CA371790680 | VPS13B | c.*340A>T (n.*340A>T) n.11316A>T c.*6928A>T (n.*6928A>T) c.11171A>T (p.Glu3724Val) c.11246A>T (p.Glu3749Val) c.11243A>T (p.Glu3748Val) c.11168A>T (p.Glu3723Val) c.10868A>T (p.Glu3623Val) c.8132A>T (p.Glu2711Val) c.7025A>T (p.Glu2342Val) c.11051A>T (p.Glu3684Val) c.6803A>T (p.Glu2268Val) c.10031A>T (p.Glu3344Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861903G>A | CA462338400 | VPS13B | c.*341G>A (n.*341G>A) n.11317G>A c.*6929G>A (n.*6929G>A) c.11172G>A (p.Glu3724=) c.11247G>A (p.Glu3749=) c.11244G>A (p.Glu3748=) c.11169G>A (p.Glu3723=) c.10869G>A (p.Glu3623=) c.8133G>A (p.Glu2711=) c.7026G>A (p.Glu2342=) c.11052G>A (p.Glu3684=) c.6804G>A (p.Glu2268=) c.10032G>A (p.Glu3344=) | dbSNP |
8 | g.99861903G>C | CA371790681 | VPS13B | c.*341G>C (n.*341G>C) n.11317G>C c.*6929G>C (n.*6929G>C) c.11172G>C (p.Glu3724Asp) c.11247G>C (p.Glu3749Asp) c.11244G>C (p.Glu3748Asp) c.11169G>C (p.Glu3723Asp) c.10869G>C (p.Glu3623Asp) c.8133G>C (p.Glu2711Asp) c.7026G>C (p.Glu2342Asp) c.11052G>C (p.Glu3684Asp) c.6804G>C (p.Glu2268Asp) c.10032G>C (p.Glu3344Asp) | |
8 | g.99861903G>T | CA371790682 | VPS13B | c.*341G>T (n.*341G>T) n.11317G>T c.*6929G>T (n.*6929G>T) c.11172G>T (p.Glu3724Asp) c.11247G>T (p.Glu3749Asp) c.11244G>T (p.Glu3748Asp) c.11169G>T (p.Glu3723Asp) c.10869G>T (p.Glu3623Asp) c.8133G>T (p.Glu2711Asp) c.7026G>T (p.Glu2342Asp) c.11052G>T (p.Glu3684Asp) c.6804G>T (p.Glu2268Asp) c.10032G>T (p.Glu3344Asp) | gnomAD v4 |
8 | g.99861906dup | CA2838442275 | VPS13B | c.*344dup (n.*344dup) n.11320dup c.*6932dup (n.*6932dup) c.11175dup (p.Leu3726AlafsTer21) c.11250dup (p.Leu3751AlafsTer21) c.11247dup (p.Leu3750AlafsTer21) c.11172dup (p.Leu3725AlafsTer21) c.10872dup (p.Leu3625AlafsTer21) c.8136dup (p.Leu2713AlafsTer21) c.7029dup (p.Leu2344AlafsTer21) c.11055dup (p.Leu3686AlafsTer21) c.6807dup (p.Leu2270AlafsTer21) c.10035dup (p.Leu3346AlafsTer21) | |
8 | g.99861904G>A | CA371790683 | VPS13B | c.*342G>A (n.*342G>A) n.11318G>A c.*6930G>A (n.*6930G>A) c.11173G>A (p.Gly3725Arg) c.11248G>A (p.Gly3750Arg) c.11245G>A (p.Gly3749Arg) c.11170G>A (p.Gly3724Arg) c.10870G>A (p.Gly3624Arg) c.8134G>A (p.Gly2712Arg) c.7027G>A (p.Gly2343Arg) c.11053G>A (p.Gly3685Arg) c.6805G>A (p.Gly2269Arg) c.10033G>A (p.Gly3345Arg) | |
8 | g.99861904G>C | CA371790684 | VPS13B | c.*342G>C (n.*342G>C) n.11318G>C c.*6930G>C (n.*6930G>C) c.11173G>C (p.Gly3725Arg) c.11248G>C (p.Gly3750Arg) c.11245G>C (p.Gly3749Arg) c.11170G>C (p.Gly3724Arg) c.10870G>C (p.Gly3624Arg) c.8134G>C (p.Gly2712Arg) c.7027G>C (p.Gly2343Arg) c.11053G>C (p.Gly3685Arg) c.6805G>C (p.Gly2269Arg) c.10033G>C (p.Gly3345Arg) | |
8 | g.99861904G>T | CA371790685 | VPS13B | c.*342G>T (n.*342G>T) n.11318G>T c.*6930G>T (n.*6930G>T) c.11173G>T (p.Gly3725Trp) c.11248G>T (p.Gly3750Trp) c.11245G>T (p.Gly3749Trp) c.11170G>T (p.Gly3724Trp) c.10870G>T (p.Gly3624Trp) c.8134G>T (p.Gly2712Trp) c.7027G>T (p.Gly2343Trp) c.11053G>T (p.Gly3685Trp) c.6805G>T (p.Gly2269Trp) c.10033G>T (p.Gly3345Trp) | |
8 | g.99861905G>A | CA371790686 | VPS13B | c.*343G>A (n.*343G>A) n.11319G>A c.*6931G>A (n.*6931G>A) c.11174G>A (p.Gly3725Glu) c.11249G>A (p.Gly3750Glu) c.11246G>A (p.Gly3749Glu) c.11171G>A (p.Gly3724Glu) c.10871G>A (p.Gly3624Glu) c.8135G>A (p.Gly2712Glu) c.7028G>A (p.Gly2343Glu) c.11054G>A (p.Gly3685Glu) c.6806G>A (p.Gly2269Glu) c.10034G>A (p.Gly3345Glu) | |
8 | g.99861905G>C | CA371790688 | VPS13B | c.*343G>C (n.*343G>C) n.11319G>C c.*6931G>C (n.*6931G>C) c.11174G>C (p.Gly3725Ala) c.11249G>C (p.Gly3750Ala) c.11246G>C (p.Gly3749Ala) c.11171G>C (p.Gly3724Ala) c.10871G>C (p.Gly3624Ala) c.8135G>C (p.Gly2712Ala) c.7028G>C (p.Gly2343Ala) c.11054G>C (p.Gly3685Ala) c.6806G>C (p.Gly2269Ala) c.10034G>C (p.Gly3345Ala) | |
8 | g.99861905G>T | CA371790687 | VPS13B | c.*343G>T (n.*343G>T) n.11319G>T c.*6931G>T (n.*6931G>T) c.11174G>T (p.Gly3725Val) c.11249G>T (p.Gly3750Val) c.11246G>T (p.Gly3749Val) c.11171G>T (p.Gly3724Val) c.10871G>T (p.Gly3624Val) c.8135G>T (p.Gly2712Val) c.7028G>T (p.Gly2343Val) c.11054G>T (p.Gly3685Val) c.6806G>T (p.Gly2269Val) c.10034G>T (p.Gly3345Val) | |
8 | g.99861906G>A | CA462338419 | VPS13B | c.*344G>A (n.*344G>A) n.11320G>A c.*6932G>A (n.*6932G>A) c.11175G>A (p.Gly3725=) c.11250G>A (p.Gly3750=) c.11247G>A (p.Gly3749=) c.11172G>A (p.Gly3724=) c.10872G>A (p.Gly3624=) c.8136G>A (p.Gly2712=) c.7029G>A (p.Gly2343=) c.11055G>A (p.Gly3685=) c.6807G>A (p.Gly2269=) c.10035G>A (p.Gly3345=) | ClinVar dbSNP gnomAD v2 |
8 | g.99861906G>C | CA462338417 | VPS13B | c.*344G>C (n.*344G>C) n.11320G>C c.*6932G>C (n.*6932G>C) c.11175G>C (p.Gly3725=) c.11250G>C (p.Gly3750=) c.11247G>C (p.Gly3749=) c.11172G>C (p.Gly3724=) c.10872G>C (p.Gly3624=) c.8136G>C (p.Gly2712=) c.7029G>C (p.Gly2343=) c.11055G>C (p.Gly3685=) c.6807G>C (p.Gly2269=) c.10035G>C (p.Gly3345=) | |
8 | g.99861906G>T | CA4825159 | VPS13B | c.*344G>T (n.*344G>T) n.11320G>T c.*6932G>T (n.*6932G>T) c.11175G>T (p.Gly3725=) c.11250G>T (p.Gly3750=) c.11247G>T (p.Gly3749=) c.11172G>T (p.Gly3724=) c.10872G>T (p.Gly3624=) c.8136G>T (p.Gly2712=) c.7029G>T (p.Gly2343=) c.11055G>T (p.Gly3685=) c.6807G>T (p.Gly2269=) c.10035G>T (p.Gly3345=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861907C>A | CA371790689 | VPS13B | c.*345C>A (n.*345C>A) n.11321C>A c.*6933C>A (n.*6933C>A) c.11176C>A (p.Leu3726Ile) c.11251C>A (p.Leu3751Ile) c.11248C>A (p.Leu3750Ile) c.11173C>A (p.Leu3725Ile) c.10873C>A (p.Leu3625Ile) c.8137C>A (p.Leu2713Ile) c.7030C>A (p.Leu2344Ile) c.11056C>A (p.Leu3686Ile) c.6808C>A (p.Leu2270Ile) c.10036C>A (p.Leu3346Ile) | dbSNP gnomAD v2 |
8 | g.99861907C>G | CA371790690 | VPS13B | c.*345C>G (n.*345C>G) n.11321C>G c.*6933C>G (n.*6933C>G) c.11176C>G (p.Leu3726Val) c.11251C>G (p.Leu3751Val) c.11248C>G (p.Leu3750Val) c.11173C>G (p.Leu3725Val) c.10873C>G (p.Leu3625Val) c.8137C>G (p.Leu2713Val) c.7030C>G (p.Leu2344Val) c.11056C>G (p.Leu3686Val) c.6808C>G (p.Leu2270Val) c.10036C>G (p.Leu3346Val) | |
8 | g.99861907C>T | CA4825160 | VPS13B | c.*345C>T (n.*345C>T) n.11321C>T c.*6933C>T (n.*6933C>T) c.11176C>T (p.Leu3726Phe) c.11251C>T (p.Leu3751Phe) c.11248C>T (p.Leu3750Phe) c.11173C>T (p.Leu3725Phe) c.10873C>T (p.Leu3625Phe) c.8137C>T (p.Leu2713Phe) c.7030C>T (p.Leu2344Phe) c.11056C>T (p.Leu3686Phe) c.6808C>T (p.Leu2270Phe) c.10036C>T (p.Leu3346Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861908T>A | CA371790691 | VPS13B | c.*346T>A (n.*346T>A) n.11322T>A c.*6934T>A (n.*6934T>A) c.11177T>A (p.Leu3726His) c.11252T>A (p.Leu3751His) c.11249T>A (p.Leu3750His) c.11174T>A (p.Leu3725His) c.10874T>A (p.Leu3625His) c.8138T>A (p.Leu2713His) c.7031T>A (p.Leu2344His) c.11057T>A (p.Leu3686His) c.6809T>A (p.Leu2270His) c.10037T>A (p.Leu3346His) | |
8 | g.99861908T>C | CA371790692 | VPS13B | c.*346T>C (n.*346T>C) n.11322T>C c.*6934T>C (n.*6934T>C) c.11177T>C (p.Leu3726Pro) c.11252T>C (p.Leu3751Pro) c.11249T>C (p.Leu3750Pro) c.11174T>C (p.Leu3725Pro) c.10874T>C (p.Leu3625Pro) c.8138T>C (p.Leu2713Pro) c.7031T>C (p.Leu2344Pro) c.11057T>C (p.Leu3686Pro) c.6809T>C (p.Leu2270Pro) c.10037T>C (p.Leu3346Pro) | |
8 | g.99861908T>G | CA371790693 | VPS13B | c.*346T>G (n.*346T>G) n.11322T>G c.*6934T>G (n.*6934T>G) c.11177T>G (p.Leu3726Arg) c.11252T>G (p.Leu3751Arg) c.11249T>G (p.Leu3750Arg) c.11174T>G (p.Leu3725Arg) c.10874T>G (p.Leu3625Arg) c.8138T>G (p.Leu2713Arg) c.7031T>G (p.Leu2344Arg) c.11057T>G (p.Leu3686Arg) c.6809T>G (p.Leu2270Arg) c.10037T>G (p.Leu3346Arg) | |
8 | g.99861909T>A | CA462338434 | VPS13B | c.*347T>A (n.*347T>A) n.11323T>A c.*6935T>A (n.*6935T>A) c.11178T>A (p.Leu3726=) c.11253T>A (p.Leu3751=) c.11250T>A (p.Leu3750=) c.11175T>A (p.Leu3725=) c.10875T>A (p.Leu3625=) c.8139T>A (p.Leu2713=) c.7032T>A (p.Leu2344=) c.11058T>A (p.Leu3686=) c.6810T>A (p.Leu2270=) c.10038T>A (p.Leu3346=) | |
8 | g.99861909T>C | CA462338436 | VPS13B | c.*347T>C (n.*347T>C) n.11323T>C c.*6935T>C (n.*6935T>C) c.11178T>C (p.Leu3726=) c.11253T>C (p.Leu3751=) c.11250T>C (p.Leu3750=) c.11175T>C (p.Leu3725=) c.10875T>C (p.Leu3625=) c.8139T>C (p.Leu2713=) c.7032T>C (p.Leu2344=) c.11058T>C (p.Leu3686=) c.6810T>C (p.Leu2270=) c.10038T>C (p.Leu3346=) | |
8 | g.99861909T>G | CA462338438 | VPS13B | c.*347T>G (n.*347T>G) n.11323T>G c.*6935T>G (n.*6935T>G) c.11178T>G (p.Leu3726=) c.11253T>G (p.Leu3751=) c.11250T>G (p.Leu3750=) c.11175T>G (p.Leu3725=) c.10875T>G (p.Leu3625=) c.8139T>G (p.Leu2713=) c.7032T>G (p.Leu2344=) c.11058T>G (p.Leu3686=) c.6810T>G (p.Leu2270=) c.10038T>G (p.Leu3346=) | |
8 | g.99861910C>A | CA462338441 | VPS13B | c.*348C>A (n.*348C>A) n.11324C>A c.*6936C>A (n.*6936C>A) c.11179C>A (p.Arg3727=) c.11254C>A (p.Arg3752=) c.11251C>A (p.Arg3751=) c.11176C>A (p.Arg3726=) c.10876C>A (p.Arg3626=) c.8140C>A (p.Arg2714=) c.7033C>A (p.Arg2345=) c.11059C>A (p.Arg3687=) c.6811C>A (p.Arg2271=) c.10039C>A (p.Arg3347=) | gnomAD v4 |
8 | g.99861910C>G | CA371790694 | VPS13B | c.*348C>G (n.*348C>G) n.11324C>G c.*6936C>G (n.*6936C>G) c.11179C>G (p.Arg3727Gly) c.11254C>G (p.Arg3752Gly) c.11251C>G (p.Arg3751Gly) c.11176C>G (p.Arg3726Gly) c.10876C>G (p.Arg3626Gly) c.8140C>G (p.Arg2714Gly) c.7033C>G (p.Arg2345Gly) c.11059C>G (p.Arg3687Gly) c.6811C>G (p.Arg2271Gly) c.10039C>G (p.Arg3347Gly) | |
8 | g.99861910C>T | CA371790695 | VPS13B | c.*348C>T (n.*348C>T) n.11324C>T c.*6936C>T (n.*6936C>T) c.11179C>T (p.Arg3727Ter) c.11254C>T (p.Arg3752Ter) c.11251C>T (p.Arg3751Ter) c.11176C>T (p.Arg3726Ter) c.10876C>T (p.Arg3626Ter) c.8140C>T (p.Arg2714Ter) c.7033C>T (p.Arg2345Ter) c.11059C>T (p.Arg3687Ter) c.6811C>T (p.Arg2271Ter) c.10039C>T (p.Arg3347Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861911G>A | CA182321626 | VPS13B | c.*349G>A (n.*349G>A) n.11325G>A c.*6937G>A (n.*6937G>A) c.11180G>A (p.Arg3727Gln) c.11255G>A (p.Arg3752Gln) c.11252G>A (p.Arg3751Gln) c.11177G>A (p.Arg3726Gln) c.10877G>A (p.Arg3626Gln) c.8141G>A (p.Arg2714Gln) c.7034G>A (p.Arg2345Gln) c.11060G>A (p.Arg3687Gln) c.6812G>A (p.Arg2271Gln) c.10040G>A (p.Arg3347Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99861911G>C | CA371790696 | VPS13B | c.*349G>C (n.*349G>C) n.11325G>C c.*6937G>C (n.*6937G>C) c.11180G>C (p.Arg3727Pro) c.11255G>C (p.Arg3752Pro) c.11252G>C (p.Arg3751Pro) c.11177G>C (p.Arg3726Pro) c.10877G>C (p.Arg3626Pro) c.8141G>C (p.Arg2714Pro) c.7034G>C (p.Arg2345Pro) c.11060G>C (p.Arg3687Pro) c.6812G>C (p.Arg2271Pro) c.10040G>C (p.Arg3347Pro) | |
8 | g.99861911G>T | CA371790697 | VPS13B | c.*349G>T (n.*349G>T) n.11325G>T c.*6937G>T (n.*6937G>T) c.11180G>T (p.Arg3727Leu) c.11255G>T (p.Arg3752Leu) c.11252G>T (p.Arg3751Leu) c.11177G>T (p.Arg3726Leu) c.10877G>T (p.Arg3626Leu) c.8141G>T (p.Arg2714Leu) c.7034G>T (p.Arg2345Leu) c.11060G>T (p.Arg3687Leu) c.6812G>T (p.Arg2271Leu) c.10040G>T (p.Arg3347Leu) | gnomAD v4 |
8 | g.99861911dup | CA2843184873 | VPS13B | c.*349dup (n.*349dup) n.11325dup c.*6937dup (n.*6937dup) c.11180dup (p.Gln3728ThrfsTer19) c.11255dup (p.Gln3753ThrfsTer19) c.11252dup (p.Gln3752ThrfsTer19) c.11177dup (p.Gln3727ThrfsTer19) c.10877dup (p.Gln3627ThrfsTer19) c.8141dup (p.Gln2715ThrfsTer19) c.7034dup (p.Gln2346ThrfsTer19) c.11060dup (p.Gln3688ThrfsTer19) c.6812dup (p.Gln2272ThrfsTer19) c.10040dup (p.Gln3348ThrfsTer19) | |
8 | g.99861912_99861916del | CA2688072163 | VPS13B | c.*350_*354del (n.*350_*354del) n.11326_11330del c.*6938_*6942del (n.*6938_*6942del) c.11181_11185del (p.Gln3728ProfsTer17) c.11256_11260del (p.Gln3753ProfsTer17) c.11253_11257del (p.Gln3752ProfsTer17) c.11178_11182del (p.Gln3727ProfsTer17) c.10878_10882del (p.Gln3627ProfsTer17) c.8142_8146del (p.Gln2715ProfsTer17) c.7035_7039del (p.Gln2346ProfsTer17) c.11061_11065del (p.Gln3688ProfsTer17) c.6813_6817del (p.Gln2272ProfsTer17) c.10041_10045del (p.Gln3348ProfsTer17) | gnomAD v4 |
8 | g.99861912A= | CA2580832419 | VPS13B | c.*350A= (n.*350A=) n.11326A= c.*6938A= (n.*6938A=) c.11181A= (p.Arg3727=) c.11256A= (p.Arg3752=) c.11253A= (p.Arg3751=) c.11178A= (p.Arg3726=) c.10878A= (p.Arg3626=) c.8142A= (p.Arg2714=) c.7035A= (p.Arg2345=) c.11061A= (p.Arg3687=) c.6813A= (p.Arg2271=) c.10041A= (p.Arg3347=) | |
8 | g.99861912A>C | CA462338455 | VPS13B | c.*350A>C (n.*350A>C) n.11326A>C c.*6938A>C (n.*6938A>C) c.11181A>C (p.Arg3727=) c.11256A>C (p.Arg3752=) c.11253A>C (p.Arg3751=) c.11178A>C (p.Arg3726=) c.10878A>C (p.Arg3626=) c.8142A>C (p.Arg2714=) c.7035A>C (p.Arg2345=) c.11061A>C (p.Arg3687=) c.6813A>C (p.Arg2271=) c.10041A>C (p.Arg3347=) | |
8 | g.99861912A>G | CA4825161 | VPS13B | c.*350A>G (n.*350A>G) n.11326A>G c.*6938A>G (n.*6938A>G) c.11181A>G (p.Arg3727=) c.11256A>G (p.Arg3752=) c.11253A>G (p.Arg3751=) c.11178A>G (p.Arg3726=) c.10878A>G (p.Arg3626=) c.8142A>G (p.Arg2714=) c.7035A>G (p.Arg2345=) c.11061A>G (p.Arg3687=) c.6813A>G (p.Arg2271=) c.10041A>G (p.Arg3347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861912A>T | CA462338458 | VPS13B | c.*350A>T (n.*350A>T) n.11326A>T c.*6938A>T (n.*6938A>T) c.11181A>T (p.Arg3727=) c.11256A>T (p.Arg3752=) c.11253A>T (p.Arg3751=) c.11178A>T (p.Arg3726=) c.10878A>T (p.Arg3626=) c.8142A>T (p.Arg2714=) c.7035A>T (p.Arg2345=) c.11061A>T (p.Arg3687=) c.6813A>T (p.Arg2271=) c.10041A>T (p.Arg3347=) | |
8 | g.99861912_99861956del | CA857605273 | VPS13B | c.*350_*384+10del n.11326_11360+10del c.*6938_*6972+10del c.11181_11215+10del c.11256_11290+10del c.11253_11287+10del c.11178_11212+10del c.10878_10912+10del c.8142_8176+10del c.7035_7069+10del c.11061_11095+10del c.6813_6847+10del c.10041_10075+10del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861913C>A | CA371790698 | VPS13B | c.*351C>A (n.*351C>A) n.11327C>A c.*6939C>A (n.*6939C>A) c.11182C>A (p.Gln3728Lys) c.11257C>A (p.Gln3753Lys) c.11254C>A (p.Gln3752Lys) c.11179C>A (p.Gln3727Lys) c.10879C>A (p.Gln3627Lys) c.8143C>A (p.Gln2715Lys) c.7036C>A (p.Gln2346Lys) c.11062C>A (p.Gln3688Lys) c.6814C>A (p.Gln2272Lys) c.10042C>A (p.Gln3348Lys) | |
8 | g.99861913C>G | CA371790700 | VPS13B | c.*351C>G (n.*351C>G) n.11327C>G c.*6939C>G (n.*6939C>G) c.11182C>G (p.Gln3728Glu) c.11257C>G (p.Gln3753Glu) c.11254C>G (p.Gln3752Glu) c.11179C>G (p.Gln3727Glu) c.10879C>G (p.Gln3627Glu) c.8143C>G (p.Gln2715Glu) c.7036C>G (p.Gln2346Glu) c.11062C>G (p.Gln3688Glu) c.6814C>G (p.Gln2272Glu) c.10042C>G (p.Gln3348Glu) | |
8 | g.99861913C>T | CA371790699 | VPS13B | c.*351C>T (n.*351C>T) n.11327C>T c.*6939C>T (n.*6939C>T) c.11182C>T (p.Gln3728Ter) c.11257C>T (p.Gln3753Ter) c.11254C>T (p.Gln3752Ter) c.11179C>T (p.Gln3727Ter) c.10879C>T (p.Gln3627Ter) c.8143C>T (p.Gln2715Ter) c.7036C>T (p.Gln2346Ter) c.11062C>T (p.Gln3688Ter) c.6814C>T (p.Gln2272Ter) c.10042C>T (p.Gln3348Ter) | |
8 | g.99861914A>C | CA371790701 | VPS13B | c.*352A>C (n.*352A>C) n.11328A>C c.*6940A>C (n.*6940A>C) c.11183A>C (p.Gln3728Pro) c.11258A>C (p.Gln3753Pro) c.11255A>C (p.Gln3752Pro) c.11180A>C (p.Gln3727Pro) c.10880A>C (p.Gln3627Pro) c.8144A>C (p.Gln2715Pro) c.7037A>C (p.Gln2346Pro) c.11063A>C (p.Gln3688Pro) c.6815A>C (p.Gln2272Pro) c.10043A>C (p.Gln3348Pro) | |
8 | g.99861914A>G | CA371790702 | VPS13B | c.*352A>G (n.*352A>G) n.11328A>G c.*6940A>G (n.*6940A>G) c.11183A>G (p.Gln3728Arg) c.11258A>G (p.Gln3753Arg) c.11255A>G (p.Gln3752Arg) c.11180A>G (p.Gln3727Arg) c.10880A>G (p.Gln3627Arg) c.8144A>G (p.Gln2715Arg) c.7037A>G (p.Gln2346Arg) c.11063A>G (p.Gln3688Arg) c.6815A>G (p.Gln2272Arg) c.10043A>G (p.Gln3348Arg) | |
8 | g.99861914A>T | CA371790703 | VPS13B | c.*352A>T (n.*352A>T) n.11328A>T c.*6940A>T (n.*6940A>T) c.11183A>T (p.Gln3728Leu) c.11258A>T (p.Gln3753Leu) c.11255A>T (p.Gln3752Leu) c.11180A>T (p.Gln3727Leu) c.10880A>T (p.Gln3627Leu) c.8144A>T (p.Gln2715Leu) c.7037A>T (p.Gln2346Leu) c.11063A>T (p.Gln3688Leu) c.6815A>T (p.Gln2272Leu) c.10043A>T (p.Gln3348Leu) | |
8 | g.99861915G>A | CA462338472 | VPS13B | c.*353G>A (n.*353G>A) n.11329G>A c.*6941G>A (n.*6941G>A) c.11184G>A (p.Gln3728=) c.11259G>A (p.Gln3753=) c.11256G>A (p.Gln3752=) c.11181G>A (p.Gln3727=) c.10881G>A (p.Gln3627=) c.8145G>A (p.Gln2715=) c.7038G>A (p.Gln2346=) c.11064G>A (p.Gln3688=) c.6816G>A (p.Gln2272=) c.10044G>A (p.Gln3348=) | dbSNP |
8 | g.99861915G>C | CA371790704 | VPS13B | c.*353G>C (n.*353G>C) n.11329G>C c.*6941G>C (n.*6941G>C) c.11184G>C (p.Gln3728His) c.11259G>C (p.Gln3753His) c.11256G>C (p.Gln3752His) c.11181G>C (p.Gln3727His) c.10881G>C (p.Gln3627His) c.8145G>C (p.Gln2715His) c.7038G>C (p.Gln2346His) c.11064G>C (p.Gln3688His) c.6816G>C (p.Gln2272His) c.10044G>C (p.Gln3348His) | |
8 | g.99861915G>T | CA371790705 | VPS13B | c.*353G>T (n.*353G>T) n.11329G>T c.*6941G>T (n.*6941G>T) c.11184G>T (p.Gln3728His) c.11259G>T (p.Gln3753His) c.11256G>T (p.Gln3752His) c.11181G>T (p.Gln3727His) c.10881G>T (p.Gln3627His) c.8145G>T (p.Gln2715His) c.7038G>T (p.Gln2346His) c.11064G>T (p.Gln3688His) c.6816G>T (p.Gln2272His) c.10044G>T (p.Gln3348His) | gnomAD v4 COSMIC COSMIC |
8 | g.99861916G>A | CA371790706 | VPS13B | c.*354G>A (n.*354G>A) n.11330G>A c.*6942G>A (n.*6942G>A) c.11185G>A (p.Gly3729Ser) c.11260G>A (p.Gly3754Ser) c.11257G>A (p.Gly3753Ser) c.11182G>A (p.Gly3728Ser) c.10882G>A (p.Gly3628Ser) c.8146G>A (p.Gly2716Ser) c.7039G>A (p.Gly2347Ser) c.11065G>A (p.Gly3689Ser) c.6817G>A (p.Gly2273Ser) c.10045G>A (p.Gly3349Ser) | |
8 | g.99861916G>C | CA371790707 | VPS13B | c.*354G>C (n.*354G>C) n.11330G>C c.*6942G>C (n.*6942G>C) c.11185G>C (p.Gly3729Arg) c.11260G>C (p.Gly3754Arg) c.11257G>C (p.Gly3753Arg) c.11182G>C (p.Gly3728Arg) c.10882G>C (p.Gly3628Arg) c.8146G>C (p.Gly2716Arg) c.7039G>C (p.Gly2347Arg) c.11065G>C (p.Gly3689Arg) c.6817G>C (p.Gly2273Arg) c.10045G>C (p.Gly3349Arg) | COSMIC COSMIC |
8 | g.99861916G>T | CA371790708 | VPS13B | c.*354G>T (n.*354G>T) n.11330G>T c.*6942G>T (n.*6942G>T) c.11185G>T (p.Gly3729Cys) c.11260G>T (p.Gly3754Cys) c.11257G>T (p.Gly3753Cys) c.11182G>T (p.Gly3728Cys) c.10882G>T (p.Gly3628Cys) c.8146G>T (p.Gly2716Cys) c.7039G>T (p.Gly2347Cys) c.11065G>T (p.Gly3689Cys) c.6817G>T (p.Gly2273Cys) c.10045G>T (p.Gly3349Cys) | |
8 | g.99861917G>A | CA371790709 | VPS13B | c.*355G>A (n.*355G>A) n.11331G>A c.*6943G>A (n.*6943G>A) c.11186G>A (p.Gly3729Asp) c.11261G>A (p.Gly3754Asp) c.11258G>A (p.Gly3753Asp) c.11183G>A (p.Gly3728Asp) c.10883G>A (p.Gly3628Asp) c.8147G>A (p.Gly2716Asp) c.7040G>A (p.Gly2347Asp) c.11066G>A (p.Gly3689Asp) c.6818G>A (p.Gly2273Asp) c.10046G>A (p.Gly3349Asp) | gnomAD v4 |
8 | g.99861917G>C | CA371790710 | VPS13B | c.*355G>C (n.*355G>C) n.11331G>C c.*6943G>C (n.*6943G>C) c.11186G>C (p.Gly3729Ala) c.11261G>C (p.Gly3754Ala) c.11258G>C (p.Gly3753Ala) c.11183G>C (p.Gly3728Ala) c.10883G>C (p.Gly3628Ala) c.8147G>C (p.Gly2716Ala) c.7040G>C (p.Gly2347Ala) c.11066G>C (p.Gly3689Ala) c.6818G>C (p.Gly2273Ala) c.10046G>C (p.Gly3349Ala) | |
8 | g.99861917G>T | CA371790711 | VPS13B | c.*355G>T (n.*355G>T) n.11331G>T c.*6943G>T (n.*6943G>T) c.11186G>T (p.Gly3729Val) c.11261G>T (p.Gly3754Val) c.11258G>T (p.Gly3753Val) c.11183G>T (p.Gly3728Val) c.10883G>T (p.Gly3628Val) c.8147G>T (p.Gly2716Val) c.7040G>T (p.Gly2347Val) c.11066G>T (p.Gly3689Val) c.6818G>T (p.Gly2273Val) c.10046G>T (p.Gly3349Val) | |
8 | g.99861918C>A | CA462338490 | VPS13B | c.*356C>A (n.*356C>A) n.11332C>A c.*6944C>A (n.*6944C>A) c.11187C>A (p.Gly3729=) c.11262C>A (p.Gly3754=) c.11259C>A (p.Gly3753=) c.11184C>A (p.Gly3728=) c.10884C>A (p.Gly3628=) c.8148C>A (p.Gly2716=) c.7041C>A (p.Gly2347=) c.11067C>A (p.Gly3689=) c.6819C>A (p.Gly2273=) c.10047C>A (p.Gly3349=) | gnomAD v4 |
8 | g.99861918C>G | CA462338492 | VPS13B | c.*356C>G (n.*356C>G) n.11332C>G c.*6944C>G (n.*6944C>G) c.11187C>G (p.Gly3729=) c.11262C>G (p.Gly3754=) c.11259C>G (p.Gly3753=) c.11184C>G (p.Gly3728=) c.10884C>G (p.Gly3628=) c.8148C>G (p.Gly2716=) c.7041C>G (p.Gly2347=) c.11067C>G (p.Gly3689=) c.6819C>G (p.Gly2273=) c.10047C>G (p.Gly3349=) | ClinVar |
8 | g.99861918C>T | CA462338494 | VPS13B | c.*356C>T (n.*356C>T) n.11332C>T c.*6944C>T (n.*6944C>T) c.11187C>T (p.Gly3729=) c.11262C>T (p.Gly3754=) c.11259C>T (p.Gly3753=) c.11184C>T (p.Gly3728=) c.10884C>T (p.Gly3628=) c.8148C>T (p.Gly2716=) c.7041C>T (p.Gly2347=) c.11067C>T (p.Gly3689=) c.6819C>T (p.Gly2273=) c.10047C>T (p.Gly3349=) | dbSNP gnomAD v4 |
8 | g.99861919C>A | CA371790712 | VPS13B | c.*357C>A (n.*357C>A) n.11333C>A c.*6945C>A (n.*6945C>A) c.11188C>A (p.Leu3730Met) c.11263C>A (p.Leu3755Met) c.11260C>A (p.Leu3754Met) c.11185C>A (p.Leu3729Met) c.10885C>A (p.Leu3629Met) c.8149C>A (p.Leu2717Met) c.7042C>A (p.Leu2348Met) c.11068C>A (p.Leu3690Met) c.6820C>A (p.Leu2274Met) c.10048C>A (p.Leu3350Met) | gnomAD v4 |
8 | g.99861919C>G | CA371790713 | VPS13B | c.*357C>G (n.*357C>G) n.11333C>G c.*6945C>G (n.*6945C>G) c.11188C>G (p.Leu3730Val) c.11263C>G (p.Leu3755Val) c.11260C>G (p.Leu3754Val) c.11185C>G (p.Leu3729Val) c.10885C>G (p.Leu3629Val) c.8149C>G (p.Leu2717Val) c.7042C>G (p.Leu2348Val) c.11068C>G (p.Leu3690Val) c.6820C>G (p.Leu2274Val) c.10048C>G (p.Leu3350Val) | |
8 | g.99861919C>T | CA4825162 | VPS13B | c.*357C>T (n.*357C>T) n.11333C>T c.*6945C>T (n.*6945C>T) c.11188C>T (p.Leu3730=) c.11263C>T (p.Leu3755=) c.11260C>T (p.Leu3754=) c.11185C>T (p.Leu3729=) c.10885C>T (p.Leu3629=) c.8149C>T (p.Leu2717=) c.7042C>T (p.Leu2348=) c.11068C>T (p.Leu3690=) c.6820C>T (p.Leu2274=) c.10048C>T (p.Leu3350=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861920T>A | CA371790715 | VPS13B | c.*358T>A (n.*358T>A) n.11334T>A c.*6946T>A (n.*6946T>A) c.11189T>A (p.Leu3730Gln) c.11264T>A (p.Leu3755Gln) c.11261T>A (p.Leu3754Gln) c.11186T>A (p.Leu3729Gln) c.10886T>A (p.Leu3629Gln) c.8150T>A (p.Leu2717Gln) c.7043T>A (p.Leu2348Gln) c.11069T>A (p.Leu3690Gln) c.6821T>A (p.Leu2274Gln) c.10049T>A (p.Leu3350Gln) | |
8 | g.99861920T>C | CA371790714 | VPS13B | c.*358T>C (n.*358T>C) n.11334T>C c.*6946T>C (n.*6946T>C) c.11189T>C (p.Leu3730Pro) c.11264T>C (p.Leu3755Pro) c.11261T>C (p.Leu3754Pro) c.11186T>C (p.Leu3729Pro) c.10886T>C (p.Leu3629Pro) c.8150T>C (p.Leu2717Pro) c.7043T>C (p.Leu2348Pro) c.11069T>C (p.Leu3690Pro) c.6821T>C (p.Leu2274Pro) c.10049T>C (p.Leu3350Pro) | gnomAD v4 |
8 | g.99861920T>G | CA371790716 | VPS13B | c.*358T>G (n.*358T>G) n.11334T>G c.*6946T>G (n.*6946T>G) c.11189T>G (p.Leu3730Arg) c.11264T>G (p.Leu3755Arg) c.11261T>G (p.Leu3754Arg) c.11186T>G (p.Leu3729Arg) c.10886T>G (p.Leu3629Arg) c.8150T>G (p.Leu2717Arg) c.7043T>G (p.Leu2348Arg) c.11069T>G (p.Leu3690Arg) c.6821T>G (p.Leu2274Arg) c.10049T>G (p.Leu3350Arg) | |
8 | g.99861921G>A | CA462338507 | VPS13B | c.*359G>A (n.*359G>A) n.11335G>A c.*6947G>A (n.*6947G>A) c.11190G>A (p.Leu3730=) c.11265G>A (p.Leu3755=) c.11262G>A (p.Leu3754=) c.11187G>A (p.Leu3729=) c.10887G>A (p.Leu3629=) c.8151G>A (p.Leu2717=) c.7044G>A (p.Leu2348=) c.11070G>A (p.Leu3690=) c.6822G>A (p.Leu2274=) c.10050G>A (p.Leu3350=) | |
8 | g.99861921G>C | CA462338509 | VPS13B | c.*359G>C (n.*359G>C) n.11335G>C c.*6947G>C (n.*6947G>C) c.11190G>C (p.Leu3730=) c.11265G>C (p.Leu3755=) c.11262G>C (p.Leu3754=) c.11187G>C (p.Leu3729=) c.10887G>C (p.Leu3629=) c.8151G>C (p.Leu2717=) c.7044G>C (p.Leu2348=) c.11070G>C (p.Leu3690=) c.6822G>C (p.Leu2274=) c.10050G>C (p.Leu3350=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861921G>T | CA462338512 | VPS13B | c.*359G>T (n.*359G>T) n.11335G>T c.*6947G>T (n.*6947G>T) c.11190G>T (p.Leu3730=) c.11265G>T (p.Leu3755=) c.11262G>T (p.Leu3754=) c.11187G>T (p.Leu3729=) c.10887G>T (p.Leu3629=) c.8151G>T (p.Leu2717=) c.7044G>T (p.Leu2348=) c.11070G>T (p.Leu3690=) c.6822G>T (p.Leu2274=) c.10050G>T (p.Leu3350=) | |
8 | g.99861922T>A | CA371790717 | VPS13B | c.*360T>A (n.*360T>A) n.11336T>A c.*6948T>A (n.*6948T>A) c.11191T>A (p.Ser3731Thr) c.11266T>A (p.Ser3756Thr) c.11263T>A (p.Ser3755Thr) c.11188T>A (p.Ser3730Thr) c.10888T>A (p.Ser3630Thr) c.8152T>A (p.Ser2718Thr) c.7045T>A (p.Ser2349Thr) c.11071T>A (p.Ser3691Thr) c.6823T>A (p.Ser2275Thr) c.10051T>A (p.Ser3351Thr) | gnomAD v4 |
8 | g.99861922T>C | CA371790718 | VPS13B | c.*360T>C (n.*360T>C) n.11336T>C c.*6948T>C (n.*6948T>C) c.11191T>C (p.Ser3731Pro) c.11266T>C (p.Ser3756Pro) c.11263T>C (p.Ser3755Pro) c.11188T>C (p.Ser3730Pro) c.10888T>C (p.Ser3630Pro) c.8152T>C (p.Ser2718Pro) c.7045T>C (p.Ser2349Pro) c.11071T>C (p.Ser3691Pro) c.6823T>C (p.Ser2275Pro) c.10051T>C (p.Ser3351Pro) | ClinVar dbSNP |
8 | g.99861922T>G | CA371790719 | VPS13B | c.*360T>G (n.*360T>G) n.11336T>G c.*6948T>G (n.*6948T>G) c.11191T>G (p.Ser3731Ala) c.11266T>G (p.Ser3756Ala) c.11263T>G (p.Ser3755Ala) c.11188T>G (p.Ser3730Ala) c.10888T>G (p.Ser3630Ala) c.8152T>G (p.Ser2718Ala) c.7045T>G (p.Ser2349Ala) c.11071T>G (p.Ser3691Ala) c.6823T>G (p.Ser2275Ala) c.10051T>G (p.Ser3351Ala) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861923C>A | CA371790720 | VPS13B | c.*361C>A (n.*361C>A) n.11337C>A c.*6949C>A (n.*6949C>A) c.11192C>A (p.Ser3731Tyr) c.11267C>A (p.Ser3756Tyr) c.11264C>A (p.Ser3755Tyr) c.11189C>A (p.Ser3730Tyr) c.10889C>A (p.Ser3630Tyr) c.8153C>A (p.Ser2718Tyr) c.7046C>A (p.Ser2349Tyr) c.11072C>A (p.Ser3691Tyr) c.6824C>A (p.Ser2275Tyr) c.10052C>A (p.Ser3351Tyr) | gnomAD v4 |
8 | g.99861923C>G | CA371790721 | VPS13B | c.*361C>G (n.*361C>G) n.11337C>G c.*6949C>G (n.*6949C>G) c.11192C>G (p.Ser3731Cys) c.11267C>G (p.Ser3756Cys) c.11264C>G (p.Ser3755Cys) c.11189C>G (p.Ser3730Cys) c.10889C>G (p.Ser3630Cys) c.8153C>G (p.Ser2718Cys) c.7046C>G (p.Ser2349Cys) c.11072C>G (p.Ser3691Cys) c.6824C>G (p.Ser2275Cys) c.10052C>G (p.Ser3351Cys) | |
8 | g.99861923C>T | CA371790722 | VPS13B | c.*361C>T (n.*361C>T) n.11337C>T c.*6949C>T (n.*6949C>T) c.11192C>T (p.Ser3731Phe) c.11267C>T (p.Ser3756Phe) c.11264C>T (p.Ser3755Phe) c.11189C>T (p.Ser3730Phe) c.10889C>T (p.Ser3630Phe) c.8153C>T (p.Ser2718Phe) c.7046C>T (p.Ser2349Phe) c.11072C>T (p.Ser3691Phe) c.6824C>T (p.Ser2275Phe) c.10052C>T (p.Ser3351Phe) | dbSNP gnomAD v4 |
8 | g.99861924C>A | CA462338523 | VPS13B | c.*362C>A (n.*362C>A) n.11338C>A c.*6950C>A (n.*6950C>A) c.11193C>A (p.Ser3731=) c.11268C>A (p.Ser3756=) c.11265C>A (p.Ser3755=) c.11190C>A (p.Ser3730=) c.10890C>A (p.Ser3630=) c.8154C>A (p.Ser2718=) c.7047C>A (p.Ser2349=) c.11073C>A (p.Ser3691=) c.6825C>A (p.Ser2275=) c.10053C>A (p.Ser3351=) | gnomAD v4 |
8 | g.99861924C>G | CA462338526 | VPS13B | c.*362C>G (n.*362C>G) n.11338C>G c.*6950C>G (n.*6950C>G) c.11193C>G (p.Ser3731=) c.11268C>G (p.Ser3756=) c.11265C>G (p.Ser3755=) c.11190C>G (p.Ser3730=) c.10890C>G (p.Ser3630=) c.8154C>G (p.Ser2718=) c.7047C>G (p.Ser2349=) c.11073C>G (p.Ser3691=) c.6825C>G (p.Ser2275=) c.10053C>G (p.Ser3351=) | |
8 | g.99861924C>T | CA462338528 | VPS13B | c.*362C>T (n.*362C>T) n.11338C>T c.*6950C>T (n.*6950C>T) c.11193C>T (p.Ser3731=) c.11268C>T (p.Ser3756=) c.11265C>T (p.Ser3755=) c.11190C>T (p.Ser3730=) c.10890C>T (p.Ser3630=) c.8154C>T (p.Ser2718=) c.7047C>T (p.Ser2349=) c.11073C>T (p.Ser3691=) c.6825C>T (p.Ser2275=) c.10053C>T (p.Ser3351=) | gnomAD v4 |
8 | g.99861925C>A | CA462338531 | VPS13B | c.*363C>A (n.*363C>A) n.11339C>A c.*6951C>A (n.*6951C>A) c.11194C>A (p.Arg3732=) c.11269C>A (p.Arg3757=) c.11266C>A (p.Arg3756=) c.11191C>A (p.Arg3731=) c.10891C>A (p.Arg3631=) c.8155C>A (p.Arg2719=) c.7048C>A (p.Arg2350=) c.11074C>A (p.Arg3692=) c.6826C>A (p.Arg2276=) c.10054C>A (p.Arg3352=) | gnomAD v4 |
8 | g.99861925C>G | CA371790723 | VPS13B | c.*363C>G (n.*363C>G) n.11339C>G c.*6951C>G (n.*6951C>G) c.11194C>G (p.Arg3732Gly) c.11269C>G (p.Arg3757Gly) c.11266C>G (p.Arg3756Gly) c.11191C>G (p.Arg3731Gly) c.10891C>G (p.Arg3631Gly) c.8155C>G (p.Arg2719Gly) c.7048C>G (p.Arg2350Gly) c.11074C>G (p.Arg3692Gly) c.6826C>G (p.Arg2276Gly) c.10054C>G (p.Arg3352Gly) | |
8 | g.99861925C>T | CA371790724 | VPS13B | c.*363C>T (n.*363C>T) n.11339C>T c.*6951C>T (n.*6951C>T) c.11194C>T (p.Arg3732Trp) c.11269C>T (p.Arg3757Trp) c.11266C>T (p.Arg3756Trp) c.11191C>T (p.Arg3731Trp) c.10891C>T (p.Arg3631Trp) c.8155C>T (p.Arg2719Trp) c.7048C>T (p.Arg2350Trp) c.11074C>T (p.Arg3692Trp) c.6826C>T (p.Arg2276Trp) c.10054C>T (p.Arg3352Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861926G>A | CA203180 | VPS13B | c.*364G>A (n.*364G>A) n.11340G>A c.*6952G>A (n.*6952G>A) c.11195G>A (p.Arg3732Gln) c.11270G>A (p.Arg3757Gln) c.11267G>A (p.Arg3756Gln) c.11192G>A (p.Arg3731Gln) c.10892G>A (p.Arg3631Gln) c.8156G>A (p.Arg2719Gln) c.7049G>A (p.Arg2350Gln) c.11075G>A (p.Arg3692Gln) c.6827G>A (p.Arg2276Gln) c.10055G>A (p.Arg3352Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861926G>C | CA371790725 | VPS13B | c.*364G>C (n.*364G>C) n.11340G>C c.*6952G>C (n.*6952G>C) c.11195G>C (p.Arg3732Pro) c.11270G>C (p.Arg3757Pro) c.11267G>C (p.Arg3756Pro) c.11192G>C (p.Arg3731Pro) c.10892G>C (p.Arg3631Pro) c.8156G>C (p.Arg2719Pro) c.7049G>C (p.Arg2350Pro) c.11075G>C (p.Arg3692Pro) c.6827G>C (p.Arg2276Pro) c.10055G>C (p.Arg3352Pro) | |
8 | g.99861926G>T | CA371790726 | VPS13B | c.*364G>T (n.*364G>T) n.11340G>T c.*6952G>T (n.*6952G>T) c.11195G>T (p.Arg3732Leu) c.11270G>T (p.Arg3757Leu) c.11267G>T (p.Arg3756Leu) c.11192G>T (p.Arg3731Leu) c.10892G>T (p.Arg3631Leu) c.8156G>T (p.Arg2719Leu) c.7049G>T (p.Arg2350Leu) c.11075G>T (p.Arg3692Leu) c.6827G>T (p.Arg2276Leu) c.10055G>T (p.Arg3352Leu) | gnomAD v4 |
8 | g.99861927G>A | CA462338546 | VPS13B | c.*365G>A (n.*365G>A) n.11341G>A c.*6953G>A (n.*6953G>A) c.11196G>A (p.Arg3732=) c.11271G>A (p.Arg3757=) c.11268G>A (p.Arg3756=) c.11193G>A (p.Arg3731=) c.10893G>A (p.Arg3631=) c.8157G>A (p.Arg2719=) c.7050G>A (p.Arg2350=) c.11076G>A (p.Arg3692=) c.6828G>A (p.Arg2276=) c.10056G>A (p.Arg3352=) | gnomAD v4 |
8 | g.99861927G>C | CA462338544 | VPS13B | c.*365G>C (n.*365G>C) n.11341G>C c.*6953G>C (n.*6953G>C) c.11196G>C (p.Arg3732=) c.11271G>C (p.Arg3757=) c.11268G>C (p.Arg3756=) c.11193G>C (p.Arg3731=) c.10893G>C (p.Arg3631=) c.8157G>C (p.Arg2719=) c.7050G>C (p.Arg2350=) c.11076G>C (p.Arg3692=) c.6828G>C (p.Arg2276=) c.10056G>C (p.Arg3352=) | dbSNP gnomAD v2 |
8 | g.99861927G>T | CA462338543 | VPS13B | c.*365G>T (n.*365G>T) n.11341G>T c.*6953G>T (n.*6953G>T) c.11196G>T (p.Arg3732=) c.11271G>T (p.Arg3757=) c.11268G>T (p.Arg3756=) c.11193G>T (p.Arg3731=) c.10893G>T (p.Arg3631=) c.8157G>T (p.Arg2719=) c.7050G>T (p.Arg2350=) c.11076G>T (p.Arg3692=) c.6828G>T (p.Arg2276=) c.10056G>T (p.Arg3352=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99861928C>A | CA371790727 | VPS13B | c.*366C>A (n.*366C>A) n.11342C>A c.*6954C>A (n.*6954C>A) c.11197C>A (p.Leu3733Met) c.11272C>A (p.Leu3758Met) c.11269C>A (p.Leu3757Met) c.11194C>A (p.Leu3732Met) c.10894C>A (p.Leu3632Met) c.8158C>A (p.Leu2720Met) c.7051C>A (p.Leu2351Met) c.11077C>A (p.Leu3693Met) c.6829C>A (p.Leu2277Met) c.10057C>A (p.Leu3353Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861928C>G | CA371790728 | VPS13B | c.*366C>G (n.*366C>G) n.11342C>G c.*6954C>G (n.*6954C>G) c.11197C>G (p.Leu3733Val) c.11272C>G (p.Leu3758Val) c.11269C>G (p.Leu3757Val) c.11194C>G (p.Leu3732Val) c.10894C>G (p.Leu3632Val) c.8158C>G (p.Leu2720Val) c.7051C>G (p.Leu2351Val) c.11077C>G (p.Leu3693Val) c.6829C>G (p.Leu2277Val) c.10057C>G (p.Leu3353Val) | |
8 | g.99861928C>T | CA462338553 | VPS13B | c.*366C>T (n.*366C>T) n.11342C>T c.*6954C>T (n.*6954C>T) c.11197C>T (p.Leu3733=) c.11272C>T (p.Leu3758=) c.11269C>T (p.Leu3757=) c.11194C>T (p.Leu3732=) c.10894C>T (p.Leu3632=) c.8158C>T (p.Leu2720=) c.7051C>T (p.Leu2351=) c.11077C>T (p.Leu3693=) c.6829C>T (p.Leu2277=) c.10057C>T (p.Leu3353=) | gnomAD v4 |
8 | g.99861929T>A | CA371790729 | VPS13B | c.*367T>A (n.*367T>A) n.11343T>A c.*6955T>A (n.*6955T>A) c.11198T>A (p.Leu3733Gln) c.11273T>A (p.Leu3758Gln) c.11270T>A (p.Leu3757Gln) c.11195T>A (p.Leu3732Gln) c.10895T>A (p.Leu3632Gln) c.8159T>A (p.Leu2720Gln) c.7052T>A (p.Leu2351Gln) c.11078T>A (p.Leu3693Gln) c.6830T>A (p.Leu2277Gln) c.10058T>A (p.Leu3353Gln) | |
8 | g.99861929T>C | CA371790731 | VPS13B | c.*367T>C (n.*367T>C) n.11343T>C c.*6955T>C (n.*6955T>C) c.11198T>C (p.Leu3733Pro) c.11273T>C (p.Leu3758Pro) c.11270T>C (p.Leu3757Pro) c.11195T>C (p.Leu3732Pro) c.10895T>C (p.Leu3632Pro) c.8159T>C (p.Leu2720Pro) c.7052T>C (p.Leu2351Pro) c.11078T>C (p.Leu3693Pro) c.6830T>C (p.Leu2277Pro) c.10058T>C (p.Leu3353Pro) | gnomAD v4 |
8 | g.99861929T>G | CA371790730 | VPS13B | c.*367T>G (n.*367T>G) n.11343T>G c.*6955T>G (n.*6955T>G) c.11198T>G (p.Leu3733Arg) c.11273T>G (p.Leu3758Arg) c.11270T>G (p.Leu3757Arg) c.11195T>G (p.Leu3732Arg) c.10895T>G (p.Leu3632Arg) c.8159T>G (p.Leu2720Arg) c.7052T>G (p.Leu2351Arg) c.11078T>G (p.Leu3693Arg) c.6830T>G (p.Leu2277Arg) c.10058T>G (p.Leu3353Arg) | |
8 | g.99861930G>A | CA462338568 | VPS13B | c.*368G>A (n.*368G>A) n.11344G>A c.*6956G>A (n.*6956G>A) c.11199G>A (p.Leu3733=) c.11274G>A (p.Leu3758=) c.11271G>A (p.Leu3757=) c.11196G>A (p.Leu3732=) c.10896G>A (p.Leu3632=) c.8160G>A (p.Leu2720=) c.7053G>A (p.Leu2351=) c.11079G>A (p.Leu3693=) c.6831G>A (p.Leu2277=) c.10059G>A (p.Leu3353=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99861930G>C | CA462338566 | VPS13B | c.*368G>C (n.*368G>C) n.11344G>C c.*6956G>C (n.*6956G>C) c.11199G>C (p.Leu3733=) c.11274G>C (p.Leu3758=) c.11271G>C (p.Leu3757=) c.11196G>C (p.Leu3732=) c.10896G>C (p.Leu3632=) c.8160G>C (p.Leu2720=) c.7053G>C (p.Leu2351=) c.11079G>C (p.Leu3693=) c.6831G>C (p.Leu2277=) c.10059G>C (p.Leu3353=) | gnomAD v4 |
8 | g.99861930G>T | CA462338564 | VPS13B | c.*368G>T (n.*368G>T) n.11344G>T c.*6956G>T (n.*6956G>T) c.11199G>T (p.Leu3733=) c.11274G>T (p.Leu3758=) c.11271G>T (p.Leu3757=) c.11196G>T (p.Leu3732=) c.10896G>T (p.Leu3632=) c.8160G>T (p.Leu2720=) c.7053G>T (p.Leu2351=) c.11079G>T (p.Leu3693=) c.6831G>T (p.Leu2277=) c.10059G>T (p.Leu3353=) | gnomAD v4 |
8 | g.99861932del | CA2688072213 | VPS13B | c.*370del (n.*370del) n.11346del c.*6958del (n.*6958del) c.11201del (p.Gly3734AlafsTer11) c.11276del (p.Gly3759AlafsTer11) c.11273del (p.Gly3758AlafsTer11) c.11198del (p.Gly3733AlafsTer11) c.10898del (p.Gly3633AlafsTer11) c.8162del (p.Gly2721AlafsTer11) c.7055del (p.Gly2352AlafsTer11) c.11081del (p.Gly3694AlafsTer11) c.6833del (p.Gly2278AlafsTer11) c.10061del (p.Gly3354AlafsTer11) | gnomAD v4 |
8 | g.99861931G>A | CA371790732 | VPS13B | c.*369G>A (n.*369G>A) n.11345G>A c.*6957G>A (n.*6957G>A) c.11200G>A (p.Gly3734Ser) c.11275G>A (p.Gly3759Ser) c.11272G>A (p.Gly3758Ser) c.11197G>A (p.Gly3733Ser) c.10897G>A (p.Gly3633Ser) c.8161G>A (p.Gly2721Ser) c.7054G>A (p.Gly2352Ser) c.11080G>A (p.Gly3694Ser) c.6832G>A (p.Gly2278Ser) c.10060G>A (p.Gly3354Ser) | |
8 | g.99861931G>C | CA371790733 | VPS13B | c.*369G>C (n.*369G>C) n.11345G>C c.*6957G>C (n.*6957G>C) c.11200G>C (p.Gly3734Arg) c.11275G>C (p.Gly3759Arg) c.11272G>C (p.Gly3758Arg) c.11197G>C (p.Gly3733Arg) c.10897G>C (p.Gly3633Arg) c.8161G>C (p.Gly2721Arg) c.7054G>C (p.Gly2352Arg) c.11080G>C (p.Gly3694Arg) c.6832G>C (p.Gly2278Arg) c.10060G>C (p.Gly3354Arg) | ClinVar |
8 | g.99861931G>T | CA371790734 | VPS13B | c.*369G>T (n.*369G>T) n.11345G>T c.*6957G>T (n.*6957G>T) c.11200G>T (p.Gly3734Cys) c.11275G>T (p.Gly3759Cys) c.11272G>T (p.Gly3758Cys) c.11197G>T (p.Gly3733Cys) c.10897G>T (p.Gly3633Cys) c.8161G>T (p.Gly2721Cys) c.7054G>T (p.Gly2352Cys) c.11080G>T (p.Gly3694Cys) c.6832G>T (p.Gly2278Cys) c.10060G>T (p.Gly3354Cys) | |
8 | g.99861932G>A | CA371790735 | VPS13B | c.*370G>A (n.*370G>A) n.11346G>A c.*6958G>A (n.*6958G>A) c.11201G>A (p.Gly3734Asp) c.11276G>A (p.Gly3759Asp) c.11273G>A (p.Gly3758Asp) c.11198G>A (p.Gly3733Asp) c.10898G>A (p.Gly3633Asp) c.8162G>A (p.Gly2721Asp) c.7055G>A (p.Gly2352Asp) c.11081G>A (p.Gly3694Asp) c.6833G>A (p.Gly2278Asp) c.10061G>A (p.Gly3354Asp) | gnomAD v4 |
8 | g.99861932G>C | CA371790736 | VPS13B | c.*370G>C (n.*370G>C) n.11346G>C c.*6958G>C (n.*6958G>C) c.11201G>C (p.Gly3734Ala) c.11276G>C (p.Gly3759Ala) c.11273G>C (p.Gly3758Ala) c.11198G>C (p.Gly3733Ala) c.10898G>C (p.Gly3633Ala) c.8162G>C (p.Gly2721Ala) c.7055G>C (p.Gly2352Ala) c.11081G>C (p.Gly3694Ala) c.6833G>C (p.Gly2278Ala) c.10061G>C (p.Gly3354Ala) | |
8 | g.99861932G>T | CA371790737 | VPS13B | c.*370G>T (n.*370G>T) n.11346G>T c.*6958G>T (n.*6958G>T) c.11201G>T (p.Gly3734Val) c.11276G>T (p.Gly3759Val) c.11273G>T (p.Gly3758Val) c.11198G>T (p.Gly3733Val) c.10898G>T (p.Gly3633Val) c.8162G>T (p.Gly2721Val) c.7055G>T (p.Gly2352Val) c.11081G>T (p.Gly3694Val) c.6833G>T (p.Gly2278Val) c.10061G>T (p.Gly3354Val) | gnomAD v4 |
8 | g.99861933C>A | CA462338579 | VPS13B | c.*371C>A (n.*371C>A) n.11347C>A c.*6959C>A (n.*6959C>A) c.11202C>A (p.Gly3734=) c.11277C>A (p.Gly3759=) c.11274C>A (p.Gly3758=) c.11199C>A (p.Gly3733=) c.10899C>A (p.Gly3633=) c.8163C>A (p.Gly2721=) c.7056C>A (p.Gly2352=) c.11082C>A (p.Gly3694=) c.6834C>A (p.Gly2278=) c.10062C>A (p.Gly3354=) | gnomAD v4 |
8 | g.99861933C>G | CA462338583 | VPS13B | c.*371C>G (n.*371C>G) n.11347C>G c.*6959C>G (n.*6959C>G) c.11202C>G (p.Gly3734=) c.11277C>G (p.Gly3759=) c.11274C>G (p.Gly3758=) c.11199C>G (p.Gly3733=) c.10899C>G (p.Gly3633=) c.8163C>G (p.Gly2721=) c.7056C>G (p.Gly2352=) c.11082C>G (p.Gly3694=) c.6834C>G (p.Gly2278=) c.10062C>G (p.Gly3354=) | |
8 | g.99861933C>T | CA4825163 | VPS13B | c.*371C>T (n.*371C>T) n.11347C>T c.*6959C>T (n.*6959C>T) c.11202C>T (p.Gly3734=) c.11277C>T (p.Gly3759=) c.11274C>T (p.Gly3758=) c.11199C>T (p.Gly3733=) c.10899C>T (p.Gly3633=) c.8163C>T (p.Gly2721=) c.7056C>T (p.Gly2352=) c.11082C>T (p.Gly3694=) c.6834C>T (p.Gly2278=) c.10062C>T (p.Gly3354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99861934A>C | CA371790738 | VPS13B | c.*372A>C (n.*372A>C) n.11348A>C c.*6960A>C (n.*6960A>C) c.11203A>C (p.Ile3735Leu) c.11278A>C (p.Ile3760Leu) c.11275A>C (p.Ile3759Leu) c.11200A>C (p.Ile3734Leu) c.10900A>C (p.Ile3634Leu) c.8164A>C (p.Ile2722Leu) c.7057A>C (p.Ile2353Leu) c.11083A>C (p.Ile3695Leu) c.6835A>C (p.Ile2279Leu) c.10063A>C (p.Ile3355Leu) | |
8 | g.99861934A>G | CA371790739 | VPS13B | c.*372A>G (n.*372A>G) n.11348A>G c.*6960A>G (n.*6960A>G) c.11203A>G (p.Ile3735Val) c.11278A>G (p.Ile3760Val) c.11275A>G (p.Ile3759Val) c.11200A>G (p.Ile3734Val) c.10900A>G (p.Ile3634Val) c.8164A>G (p.Ile2722Val) c.7057A>G (p.Ile2353Val) c.11083A>G (p.Ile3695Val) c.6835A>G (p.Ile2279Val) c.10063A>G (p.Ile3355Val) | gnomAD v4 |
8 | g.99861934A>T | CA371790740 | VPS13B | c.*372A>T (n.*372A>T) n.11348A>T c.*6960A>T (n.*6960A>T) c.11203A>T (p.Ile3735Phe) c.11278A>T (p.Ile3760Phe) c.11275A>T (p.Ile3759Phe) c.11200A>T (p.Ile3734Phe) c.10900A>T (p.Ile3634Phe) c.8164A>T (p.Ile2722Phe) c.7057A>T (p.Ile2353Phe) c.11083A>T (p.Ile3695Phe) c.6835A>T (p.Ile2279Phe) c.10063A>T (p.Ile3355Phe) | |
8 | g.99861935T>A | CA371790742 | VPS13B | c.*373T>A (n.*373T>A) n.11349T>A c.*6961T>A (n.*6961T>A) c.11204T>A (p.Ile3735Asn) c.11279T>A (p.Ile3760Asn) c.11276T>A (p.Ile3759Asn) c.11201T>A (p.Ile3734Asn) c.10901T>A (p.Ile3634Asn) c.8165T>A (p.Ile2722Asn) c.7058T>A (p.Ile2353Asn) c.11084T>A (p.Ile3695Asn) c.6836T>A (p.Ile2279Asn) c.10064T>A (p.Ile3355Asn) | |
8 | g.99861935T>C | CA371790743 | VPS13B | c.*373T>C (n.*373T>C) n.11349T>C c.*6961T>C (n.*6961T>C) c.11204T>C (p.Ile3735Thr) c.11279T>C (p.Ile3760Thr) c.11276T>C (p.Ile3759Thr) c.11201T>C (p.Ile3734Thr) c.10901T>C (p.Ile3634Thr) c.8165T>C (p.Ile2722Thr) c.7058T>C (p.Ile2353Thr) c.11084T>C (p.Ile3695Thr) c.6836T>C (p.Ile2279Thr) c.10064T>C (p.Ile3355Thr) | gnomAD v4 |
8 | g.99861935T>G | CA371790741 | VPS13B | c.*373T>G (n.*373T>G) n.11349T>G c.*6961T>G (n.*6961T>G) c.11204T>G (p.Ile3735Ser) c.11279T>G (p.Ile3760Ser) c.11276T>G (p.Ile3759Ser) c.11201T>G (p.Ile3734Ser) c.10901T>G (p.Ile3634Ser) c.8165T>G (p.Ile2722Ser) c.7058T>G (p.Ile2353Ser) c.11084T>G (p.Ile3695Ser) c.6836T>G (p.Ile2279Ser) c.10064T>G (p.Ile3355Ser) | |
8 | g.99861936C>A | CA462338596 | VPS13B | c.*374C>A (n.*374C>A) n.11350C>A c.*6962C>A (n.*6962C>A) c.11205C>A (p.Ile3735=) c.11280C>A (p.Ile3760=) c.11277C>A (p.Ile3759=) c.11202C>A (p.Ile3734=) c.10902C>A (p.Ile3634=) c.8166C>A (p.Ile2722=) c.7059C>A (p.Ile2353=) c.11085C>A (p.Ile3695=) c.6837C>A (p.Ile2279=) c.10065C>A (p.Ile3355=) | dbSNP gnomAD v4 |
8 | g.99861936C>G | CA371790744 | VPS13B | c.*374C>G (n.*374C>G) n.11350C>G c.*6962C>G (n.*6962C>G) c.11205C>G (p.Ile3735Met) c.11280C>G (p.Ile3760Met) c.11277C>G (p.Ile3759Met) c.11202C>G (p.Ile3734Met) c.10902C>G (p.Ile3634Met) c.8166C>G (p.Ile2722Met) c.7059C>G (p.Ile2353Met) c.11085C>G (p.Ile3695Met) c.6837C>G (p.Ile2279Met) c.10065C>G (p.Ile3355Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861936C>T | CA462338602 | VPS13B | c.*374C>T (n.*374C>T) n.11350C>T c.*6962C>T (n.*6962C>T) c.11205C>T (p.Ile3735=) c.11280C>T (p.Ile3760=) c.11277C>T (p.Ile3759=) c.11202C>T (p.Ile3734=) c.10902C>T (p.Ile3634=) c.8166C>T (p.Ile2722=) c.7059C>T (p.Ile2353=) c.11085C>T (p.Ile3695=) c.6837C>T (p.Ile2279=) c.10065C>T (p.Ile3355=) | gnomAD v4 |
8 | g.99861937A>C | CA371790745 | VPS13B | c.*375A>C (n.*375A>C) n.11351A>C c.*6963A>C (n.*6963A>C) c.11206A>C (p.Ser3736Arg) c.11281A>C (p.Ser3761Arg) c.11278A>C (p.Ser3760Arg) c.11203A>C (p.Ser3735Arg) c.10903A>C (p.Ser3635Arg) c.8167A>C (p.Ser2723Arg) c.7060A>C (p.Ser2354Arg) c.11086A>C (p.Ser3696Arg) c.6838A>C (p.Ser2280Arg) c.10066A>C (p.Ser3356Arg) | |
8 | g.99861937A>G | CA371790746 | VPS13B | c.*375A>G (n.*375A>G) n.11351A>G c.*6963A>G (n.*6963A>G) c.11206A>G (p.Ser3736Gly) c.11281A>G (p.Ser3761Gly) c.11278A>G (p.Ser3760Gly) c.11203A>G (p.Ser3735Gly) c.10903A>G (p.Ser3635Gly) c.8167A>G (p.Ser2723Gly) c.7060A>G (p.Ser2354Gly) c.11086A>G (p.Ser3696Gly) c.6838A>G (p.Ser2280Gly) c.10066A>G (p.Ser3356Gly) | gnomAD v4 |
8 | g.99861937A>T | CA371790747 | VPS13B | c.*375A>T (n.*375A>T) n.11351A>T c.*6963A>T (n.*6963A>T) c.11206A>T (p.Ser3736Cys) c.11281A>T (p.Ser3761Cys) c.11278A>T (p.Ser3760Cys) c.11203A>T (p.Ser3735Cys) c.10903A>T (p.Ser3635Cys) c.8167A>T (p.Ser2723Cys) c.7060A>T (p.Ser2354Cys) c.11086A>T (p.Ser3696Cys) c.6838A>T (p.Ser2280Cys) c.10066A>T (p.Ser3356Cys) | ClinVar dbSNP gnomAD v4 |
8 | g.99861938G>A | CA371790748 | VPS13B | c.*376G>A (n.*376G>A) n.11352G>A c.*6964G>A (n.*6964G>A) c.11207G>A (p.Ser3736Asn) c.11282G>A (p.Ser3761Asn) c.11279G>A (p.Ser3760Asn) c.11204G>A (p.Ser3735Asn) c.10904G>A (p.Ser3635Asn) c.8168G>A (p.Ser2723Asn) c.7061G>A (p.Ser2354Asn) c.11087G>A (p.Ser3696Asn) c.6839G>A (p.Ser2280Asn) c.10067G>A (p.Ser3356Asn) | dbSNP gnomAD v4 |
8 | g.99861938G>C | CA371790749 | VPS13B | c.*376G>C (n.*376G>C) n.11352G>C c.*6964G>C (n.*6964G>C) c.11207G>C (p.Ser3736Thr) c.11282G>C (p.Ser3761Thr) c.11279G>C (p.Ser3760Thr) c.11204G>C (p.Ser3735Thr) c.10904G>C (p.Ser3635Thr) c.8168G>C (p.Ser2723Thr) c.7061G>C (p.Ser2354Thr) c.11087G>C (p.Ser3696Thr) c.6839G>C (p.Ser2280Thr) c.10067G>C (p.Ser3356Thr) | |
8 | g.99861938G>T | CA371790750 | VPS13B | c.*376G>T (n.*376G>T) n.11352G>T c.*6964G>T (n.*6964G>T) c.11207G>T (p.Ser3736Ile) c.11282G>T (p.Ser3761Ile) c.11279G>T (p.Ser3760Ile) c.11204G>T (p.Ser3735Ile) c.10904G>T (p.Ser3635Ile) c.8168G>T (p.Ser2723Ile) c.7061G>T (p.Ser2354Ile) c.11087G>T (p.Ser3696Ile) c.6839G>T (p.Ser2280Ile) c.10067G>T (p.Ser3356Ile) | gnomAD v4 |
8 | g.99861939C>A | CA371790751 | VPS13B | c.*377C>A (n.*377C>A) n.11353C>A c.*6965C>A (n.*6965C>A) c.11208C>A (p.Ser3736Arg) c.11283C>A (p.Ser3761Arg) c.11280C>A (p.Ser3760Arg) c.11205C>A (p.Ser3735Arg) c.10905C>A (p.Ser3635Arg) c.8169C>A (p.Ser2723Arg) c.7062C>A (p.Ser2354Arg) c.11088C>A (p.Ser3696Arg) c.6840C>A (p.Ser2280Arg) c.10068C>A (p.Ser3356Arg) | gnomAD v4 |
8 | g.99861939C>G | CA371790752 | VPS13B | c.*377C>G (n.*377C>G) n.11353C>G c.*6965C>G (n.*6965C>G) c.11208C>G (p.Ser3736Arg) c.11283C>G (p.Ser3761Arg) c.11280C>G (p.Ser3760Arg) c.11205C>G (p.Ser3735Arg) c.10905C>G (p.Ser3635Arg) c.8169C>G (p.Ser2723Arg) c.7062C>G (p.Ser2354Arg) c.11088C>G (p.Ser3696Arg) c.6840C>G (p.Ser2280Arg) c.10068C>G (p.Ser3356Arg) | gnomAD v4 |
8 | g.99861939C>T | CA4825164 | VPS13B | c.*377C>T (n.*377C>T) n.11353C>T c.*6965C>T (n.*6965C>T) c.11208C>T (p.Ser3736=) c.11283C>T (p.Ser3761=) c.11280C>T (p.Ser3760=) c.11205C>T (p.Ser3735=) c.10905C>T (p.Ser3635=) c.8169C>T (p.Ser2723=) c.7062C>T (p.Ser2354=) c.11088C>T (p.Ser3696=) c.6840C>T (p.Ser2280=) c.10068C>T (p.Ser3356=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99861940C>A | CA371790753 | VPS13B | c.*378C>A (n.*378C>A) n.11354C>A c.*6966C>A (n.*6966C>A) c.11209C>A (p.Leu3737Met) c.11284C>A (p.Leu3762Met) c.11281C>A (p.Leu3761Met) c.11206C>A (p.Leu3736Met) c.10906C>A (p.Leu3636Met) c.8170C>A (p.Leu2724Met) c.7063C>A (p.Leu2355Met) c.11089C>A (p.Leu3697Met) c.6841C>A (p.Leu2281Met) c.10069C>A (p.Leu3357Met) | gnomAD v4 |
8 | g.99861940C>G | CA371790754 | VPS13B | c.*378C>G (n.*378C>G) n.11354C>G c.*6966C>G (n.*6966C>G) c.11209C>G (p.Leu3737Val) c.11284C>G (p.Leu3762Val) c.11281C>G (p.Leu3761Val) c.11206C>G (p.Leu3736Val) c.10906C>G (p.Leu3636Val) c.8170C>G (p.Leu2724Val) c.7063C>G (p.Leu2355Val) c.11089C>G (p.Leu3697Val) c.6841C>G (p.Leu2281Val) c.10069C>G (p.Leu3357Val) | |
8 | g.99861940C>T | CA462338619 | VPS13B | c.*378C>T (n.*378C>T) n.11354C>T c.*6966C>T (n.*6966C>T) c.11209C>T (p.Leu3737=) c.11284C>T (p.Leu3762=) c.11281C>T (p.Leu3761=) c.11206C>T (p.Leu3736=) c.10906C>T (p.Leu3636=) c.8170C>T (p.Leu2724=) c.7063C>T (p.Leu2355=) c.11089C>T (p.Leu3697=) c.6841C>T (p.Leu2281=) c.10069C>T (p.Leu3357=) | |
8 | g.99861941T>A | CA371790756 | VPS13B | c.*379T>A (n.*379T>A) n.11355T>A c.*6967T>A (n.*6967T>A) c.11210T>A (p.Leu3737Gln) c.11285T>A (p.Leu3762Gln) c.11282T>A (p.Leu3761Gln) c.11207T>A (p.Leu3736Gln) c.10907T>A (p.Leu3636Gln) c.8171T>A (p.Leu2724Gln) c.7064T>A (p.Leu2355Gln) c.11090T>A (p.Leu3697Gln) c.6842T>A (p.Leu2281Gln) c.10070T>A (p.Leu3357Gln) | |
8 | g.99861941T>C | CA371790757 | VPS13B | c.*379T>C (n.*379T>C) n.11355T>C c.*6967T>C (n.*6967T>C) c.11210T>C (p.Leu3737Pro) c.11285T>C (p.Leu3762Pro) c.11282T>C (p.Leu3761Pro) c.11207T>C (p.Leu3736Pro) c.10907T>C (p.Leu3636Pro) c.8171T>C (p.Leu2724Pro) c.7064T>C (p.Leu2355Pro) c.11090T>C (p.Leu3697Pro) c.6842T>C (p.Leu2281Pro) c.10070T>C (p.Leu3357Pro) | |
8 | g.99861941T>G | CA371790755 | VPS13B | c.*379T>G (n.*379T>G) n.11355T>G c.*6967T>G (n.*6967T>G) c.11210T>G (p.Leu3737Arg) c.11285T>G (p.Leu3762Arg) c.11282T>G (p.Leu3761Arg) c.11207T>G (p.Leu3736Arg) c.10907T>G (p.Leu3636Arg) c.8171T>G (p.Leu2724Arg) c.7064T>G (p.Leu2355Arg) c.11090T>G (p.Leu3697Arg) c.6842T>G (p.Leu2281Arg) c.10070T>G (p.Leu3357Arg) |