Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99870779C>A | CA2580079247 | VPS13B | c.*562-6C>A (n.*562-6C>A) n.11538-6C>A c.*7150-6C>A (n.*7150-6C>A) c.11393-6C>A (n.11393-6C>A) c.11468-6C>A (n.11468-6C>A) n.410-6C>A c.11465-6C>A (n.11465-6C>A) c.11390-6C>A (n.11390-6C>A) c.11090-6C>A (n.11090-6C>A) c.8354-6C>A (n.8354-6C>A) c.7247-6C>A (n.7247-6C>A) c.11273-6C>A (n.11273-6C>A) c.7025-6C>A (n.7025-6C>A) c.10253-6C>A (n.10253-6C>A) | ClinVar |
8 | g.99870782C>T | CA462339593 | VPS13B | c.*562-3C>T (n.*562-3C>T) n.11538-3C>T c.*7150-3C>T (n.*7150-3C>T) c.11393-3C>T (n.11393-3C>T) c.11468-3C>T (n.11468-3C>T) n.410-3C>T c.11465-3C>T (n.11465-3C>T) c.11390-3C>T (n.11390-3C>T) c.11090-3C>T (n.11090-3C>T) c.8354-3C>T (n.8354-3C>T) c.7247-3C>T (n.7247-3C>T) c.11273-3C>T (n.11273-3C>T) c.7025-3C>T (n.7025-3C>T) c.10253-3C>T (n.10253-3C>T) | gnomAD v4 |
8 | g.99870783A>C | CA371793529 | VPS13B | c.*562-2A>C (n.*562-2A>C) n.11538-2A>C c.*7150-2A>C (n.*7150-2A>C) c.11393-2A>C (n.11393-2A>C) c.11468-2A>C (n.11468-2A>C) n.410-2A>C c.11465-2A>C (n.11465-2A>C) c.11390-2A>C (n.11390-2A>C) c.11090-2A>C (n.11090-2A>C) c.8354-2A>C (n.8354-2A>C) c.7247-2A>C (n.7247-2A>C) c.11273-2A>C (n.11273-2A>C) c.7025-2A>C (n.7025-2A>C) c.10253-2A>C (n.10253-2A>C) | ClinVar dbSNP |
8 | g.99870783A>G | CA371793530 | VPS13B | c.*562-2A>G (n.*562-2A>G) n.11538-2A>G c.*7150-2A>G (n.*7150-2A>G) c.11393-2A>G (n.11393-2A>G) c.11468-2A>G (n.11468-2A>G) n.410-2A>G c.11465-2A>G (n.11465-2A>G) c.11390-2A>G (n.11390-2A>G) c.11090-2A>G (n.11090-2A>G) c.8354-2A>G (n.8354-2A>G) c.7247-2A>G (n.7247-2A>G) c.11273-2A>G (n.11273-2A>G) c.7025-2A>G (n.7025-2A>G) c.10253-2A>G (n.10253-2A>G) | |
8 | g.99870783A>T | CA371793531 | VPS13B | c.*562-2A>T (n.*562-2A>T) n.11538-2A>T c.*7150-2A>T (n.*7150-2A>T) c.11393-2A>T (n.11393-2A>T) c.11468-2A>T (n.11468-2A>T) n.410-2A>T c.11465-2A>T (n.11465-2A>T) c.11390-2A>T (n.11390-2A>T) c.11090-2A>T (n.11090-2A>T) c.8354-2A>T (n.8354-2A>T) c.7247-2A>T (n.7247-2A>T) c.11273-2A>T (n.11273-2A>T) c.7025-2A>T (n.7025-2A>T) c.10253-2A>T (n.10253-2A>T) | |
8 | g.99870784G>A | CA16041276 | VPS13B | c.*562-1G>A (n.*562-1G>A) n.11538-1G>A c.*7150-1G>A (n.*7150-1G>A) c.11393-1G>A (n.11393-1G>A) c.11468-1G>A (n.11468-1G>A) n.410-1G>A c.11465-1G>A (n.11465-1G>A) c.11390-1G>A (n.11390-1G>A) c.11090-1G>A (n.11090-1G>A) c.8354-1G>A (n.8354-1G>A) c.7247-1G>A (n.7247-1G>A) c.11273-1G>A (n.11273-1G>A) c.7025-1G>A (n.7025-1G>A) c.10253-1G>A (n.10253-1G>A) | ClinVar dbSNP gnomAD v4 |
8 | g.99870784G>C | CA4825238 | VPS13B | c.*562-1G>C (n.*562-1G>C) n.11538-1G>C c.*7150-1G>C (n.*7150-1G>C) c.11393-1G>C (n.11393-1G>C) c.11468-1G>C (n.11468-1G>C) n.410-1G>C c.11465-1G>C (n.11465-1G>C) c.11390-1G>C (n.11390-1G>C) c.11090-1G>C (n.11090-1G>C) c.8354-1G>C (n.8354-1G>C) c.7247-1G>C (n.7247-1G>C) c.11273-1G>C (n.11273-1G>C) c.7025-1G>C (n.7025-1G>C) c.10253-1G>C (n.10253-1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99870784G>T | CA371793532 | VPS13B | c.*562-1G>T (n.*562-1G>T) n.11538-1G>T c.*7150-1G>T (n.*7150-1G>T) c.11393-1G>T (n.11393-1G>T) c.11468-1G>T (n.11468-1G>T) n.410-1G>T c.11465-1G>T (n.11465-1G>T) c.11390-1G>T (n.11390-1G>T) c.11090-1G>T (n.11090-1G>T) c.8354-1G>T (n.8354-1G>T) c.7247-1G>T (n.7247-1G>T) c.11273-1G>T (n.11273-1G>T) c.7025-1G>T (n.7025-1G>T) c.10253-1G>T (n.10253-1G>T) | |
8 | g.99870785G>A | CA371793533 | VPS13B | c.*562G>A (n.*562G>A) n.11538G>A c.*7150G>A (n.*7150G>A) c.11393G>A (p.Gly3798Asp) c.11468G>A (p.Gly3823Asp) n.410G>A c.11465G>A (p.Gly3822Asp) c.11390G>A (p.Gly3797Asp) c.11090G>A (p.Gly3697Asp) c.8354G>A (p.Gly2785Asp) c.7247G>A (p.Gly2416Asp) c.11273G>A (p.Gly3758Asp) c.7025G>A (p.Gly2342Asp) c.10253G>A (p.Gly3418Asp) | |
8 | g.99870785G>C | CA371793535 | VPS13B | c.*562G>C (n.*562G>C) n.11538G>C c.*7150G>C (n.*7150G>C) c.11393G>C (p.Gly3798Ala) c.11468G>C (p.Gly3823Ala) n.410G>C c.11465G>C (p.Gly3822Ala) c.11390G>C (p.Gly3797Ala) c.11090G>C (p.Gly3697Ala) c.8354G>C (p.Gly2785Ala) c.7247G>C (p.Gly2416Ala) c.11273G>C (p.Gly3758Ala) c.7025G>C (p.Gly2342Ala) c.10253G>C (p.Gly3418Ala) | |
8 | g.99870785G>T | CA371793534 | VPS13B | c.*562G>T (n.*562G>T) n.11538G>T c.*7150G>T (n.*7150G>T) c.11393G>T (p.Gly3798Val) c.11468G>T (p.Gly3823Val) n.410G>T c.11465G>T (p.Gly3822Val) c.11390G>T (p.Gly3797Val) c.11090G>T (p.Gly3697Val) c.8354G>T (p.Gly2785Val) c.7247G>T (p.Gly2416Val) c.11273G>T (p.Gly3758Val) c.7025G>T (p.Gly2342Val) c.10253G>T (p.Gly3418Val) | |
8 | g.99870786T>A | CA462339594 | VPS13B | c.*563T>A (n.*563T>A) n.11539T>A c.*7151T>A (n.*7151T>A) c.11394T>A (p.Gly3798=) c.11469T>A (p.Gly3823=) n.411T>A c.11466T>A (p.Gly3822=) c.11391T>A (p.Gly3797=) c.11091T>A (p.Gly3697=) c.8355T>A (p.Gly2785=) c.7248T>A (p.Gly2416=) c.11274T>A (p.Gly3758=) c.7026T>A (p.Gly2342=) c.10254T>A (p.Gly3418=) | |
8 | g.99870786T>C | CA462339596 | VPS13B | c.*563T>C (n.*563T>C) n.11539T>C c.*7151T>C (n.*7151T>C) c.11394T>C (p.Gly3798=) c.11469T>C (p.Gly3823=) n.411T>C c.11466T>C (p.Gly3822=) c.11391T>C (p.Gly3797=) c.11091T>C (p.Gly3697=) c.8355T>C (p.Gly2785=) c.7248T>C (p.Gly2416=) c.11274T>C (p.Gly3758=) c.7026T>C (p.Gly2342=) c.10254T>C (p.Gly3418=) | ClinVar dbSNP |
8 | g.99870786T>G | CA462339595 | VPS13B | c.*563T>G (n.*563T>G) n.11539T>G c.*7151T>G (n.*7151T>G) c.11394T>G (p.Gly3798=) c.11469T>G (p.Gly3823=) n.411T>G c.11466T>G (p.Gly3822=) c.11391T>G (p.Gly3797=) c.11091T>G (p.Gly3697=) c.8355T>G (p.Gly2785=) c.7248T>G (p.Gly2416=) c.11274T>G (p.Gly3758=) c.7026T>G (p.Gly2342=) c.10254T>G (p.Gly3418=) | |
8 | g.99870787A>C | CA371793536 | VPS13B | c.*564A>C (n.*564A>C) n.11540A>C c.*7152A>C (n.*7152A>C) c.11395A>C (p.Ile3799Leu) c.11470A>C (p.Ile3824Leu) n.412A>C c.11467A>C (p.Ile3823Leu) c.11392A>C (p.Ile3798Leu) c.11092A>C (p.Ile3698Leu) c.8356A>C (p.Ile2786Leu) c.7249A>C (p.Ile2417Leu) c.11275A>C (p.Ile3759Leu) c.7027A>C (p.Ile2343Leu) c.10255A>C (p.Ile3419Leu) | |
8 | g.99870787A>G | CA371793537 | VPS13B | c.*564A>G (n.*564A>G) n.11540A>G c.*7152A>G (n.*7152A>G) c.11395A>G (p.Ile3799Val) c.11470A>G (p.Ile3824Val) n.412A>G c.11467A>G (p.Ile3823Val) c.11392A>G (p.Ile3798Val) c.11092A>G (p.Ile3698Val) c.8356A>G (p.Ile2786Val) c.7249A>G (p.Ile2417Val) c.11275A>G (p.Ile3759Val) c.7027A>G (p.Ile2343Val) c.10255A>G (p.Ile3419Val) | |
8 | g.99870787A>T | CA371793538 | VPS13B | c.*564A>T (n.*564A>T) n.11540A>T c.*7152A>T (n.*7152A>T) c.11395A>T (p.Ile3799Phe) c.11470A>T (p.Ile3824Phe) n.412A>T c.11467A>T (p.Ile3823Phe) c.11392A>T (p.Ile3798Phe) c.11092A>T (p.Ile3698Phe) c.8356A>T (p.Ile2786Phe) c.7249A>T (p.Ile2417Phe) c.11275A>T (p.Ile3759Phe) c.7027A>T (p.Ile2343Phe) c.10255A>T (p.Ile3419Phe) | |
8 | g.99870788T>A | CA371793539 | VPS13B | c.*565T>A (n.*565T>A) n.11541T>A c.*7153T>A (n.*7153T>A) c.11396T>A (p.Ile3799Asn) c.11471T>A (p.Ile3824Asn) n.413T>A c.11468T>A (p.Ile3823Asn) c.11393T>A (p.Ile3798Asn) c.11093T>A (p.Ile3698Asn) c.8357T>A (p.Ile2786Asn) c.7250T>A (p.Ile2417Asn) c.11276T>A (p.Ile3759Asn) c.7028T>A (p.Ile2343Asn) c.10256T>A (p.Ile3419Asn) | |
8 | g.99870788T>C | CA371793540 | VPS13B | c.*565T>C (n.*565T>C) n.11541T>C c.*7153T>C (n.*7153T>C) c.11396T>C (p.Ile3799Thr) c.11471T>C (p.Ile3824Thr) n.413T>C c.11468T>C (p.Ile3823Thr) c.11393T>C (p.Ile3798Thr) c.11093T>C (p.Ile3698Thr) c.8357T>C (p.Ile2786Thr) c.7250T>C (p.Ile2417Thr) c.11276T>C (p.Ile3759Thr) c.7028T>C (p.Ile2343Thr) c.10256T>C (p.Ile3419Thr) | |
8 | g.99870788T>G | CA371793541 | VPS13B | c.*565T>G (n.*565T>G) n.11541T>G c.*7153T>G (n.*7153T>G) c.11396T>G (p.Ile3799Ser) c.11471T>G (p.Ile3824Ser) n.413T>G c.11468T>G (p.Ile3823Ser) c.11393T>G (p.Ile3798Ser) c.11093T>G (p.Ile3698Ser) c.8357T>G (p.Ile2786Ser) c.7250T>G (p.Ile2417Ser) c.11276T>G (p.Ile3759Ser) c.7028T>G (p.Ile2343Ser) c.10256T>G (p.Ile3419Ser) | |
8 | g.99870789T>A | CA462339597 | VPS13B | c.*566T>A (n.*566T>A) n.11542T>A c.*7154T>A (n.*7154T>A) c.11397T>A (p.Ile3799=) c.11472T>A (p.Ile3824=) n.414T>A c.11469T>A (p.Ile3823=) c.11394T>A (p.Ile3798=) c.11094T>A (p.Ile3698=) c.8358T>A (p.Ile2786=) c.7251T>A (p.Ile2417=) c.11277T>A (p.Ile3759=) c.7029T>A (p.Ile2343=) c.10257T>A (p.Ile3419=) | |
8 | g.99870789T>C | CA462339598 | VPS13B | c.*566T>C (n.*566T>C) n.11542T>C c.*7154T>C (n.*7154T>C) c.11397T>C (p.Ile3799=) c.11472T>C (p.Ile3824=) n.414T>C c.11469T>C (p.Ile3823=) c.11394T>C (p.Ile3798=) c.11094T>C (p.Ile3698=) c.8358T>C (p.Ile2786=) c.7251T>C (p.Ile2417=) c.11277T>C (p.Ile3759=) c.7029T>C (p.Ile2343=) c.10257T>C (p.Ile3419=) | dbSNP |
8 | g.99870789T>G | CA371793542 | VPS13B | c.*566T>G (n.*566T>G) n.11542T>G c.*7154T>G (n.*7154T>G) c.11397T>G (p.Ile3799Met) c.11472T>G (p.Ile3824Met) n.414T>G c.11469T>G (p.Ile3823Met) c.11394T>G (p.Ile3798Met) c.11094T>G (p.Ile3698Met) c.8358T>G (p.Ile2786Met) c.7251T>G (p.Ile2417Met) c.11277T>G (p.Ile3759Met) c.7029T>G (p.Ile2343Met) c.10257T>G (p.Ile3419Met) | |
8 | g.99870790T>A | CA371793543 | VPS13B | c.*567T>A (n.*567T>A) n.11543T>A c.*7155T>A (n.*7155T>A) c.11398T>A (p.Leu3800Ile) c.11473T>A (p.Leu3825Ile) n.415T>A c.11470T>A (p.Leu3824Ile) c.11395T>A (p.Leu3799Ile) c.11095T>A (p.Leu3699Ile) c.8359T>A (p.Leu2787Ile) c.7252T>A (p.Leu2418Ile) c.11278T>A (p.Leu3760Ile) c.7030T>A (p.Leu2344Ile) c.10258T>A (p.Leu3420Ile) | |
8 | g.99870790T>C | CA462339599 | VPS13B | c.*567T>C (n.*567T>C) n.11543T>C c.*7155T>C (n.*7155T>C) c.11398T>C (p.Leu3800=) c.11473T>C (p.Leu3825=) n.415T>C c.11470T>C (p.Leu3824=) c.11395T>C (p.Leu3799=) c.11095T>C (p.Leu3699=) c.8359T>C (p.Leu2787=) c.7252T>C (p.Leu2418=) c.11278T>C (p.Leu3760=) c.7030T>C (p.Leu2344=) c.10258T>C (p.Leu3420=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99870790T>G | CA371793544 | VPS13B | c.*567T>G (n.*567T>G) n.11543T>G c.*7155T>G (n.*7155T>G) c.11398T>G (p.Leu3800Val) c.11473T>G (p.Leu3825Val) n.415T>G c.11470T>G (p.Leu3824Val) c.11395T>G (p.Leu3799Val) c.11095T>G (p.Leu3699Val) c.8359T>G (p.Leu2787Val) c.7252T>G (p.Leu2418Val) c.11278T>G (p.Leu3760Val) c.7030T>G (p.Leu2344Val) c.10258T>G (p.Leu3420Val) | |
8 | g.99870791T>A | CA371793545 | VPS13B | c.*568T>A (n.*568T>A) n.11544T>A c.*7156T>A (n.*7156T>A) c.11399T>A (p.Leu3800Ter) c.11474T>A (p.Leu3825Ter) n.416T>A c.11471T>A (p.Leu3824Ter) c.11396T>A (p.Leu3799Ter) c.11096T>A (p.Leu3699Ter) c.8360T>A (p.Leu2787Ter) c.7253T>A (p.Leu2418Ter) c.11279T>A (p.Leu3760Ter) c.7031T>A (p.Leu2344Ter) c.10259T>A (p.Leu3420Ter) | |
8 | g.99870791T>C | CA371793546 | VPS13B | c.*568T>C (n.*568T>C) n.11544T>C c.*7156T>C (n.*7156T>C) c.11399T>C (p.Leu3800Ser) c.11474T>C (p.Leu3825Ser) n.416T>C c.11471T>C (p.Leu3824Ser) c.11396T>C (p.Leu3799Ser) c.11096T>C (p.Leu3699Ser) c.8360T>C (p.Leu2787Ser) c.7253T>C (p.Leu2418Ser) c.11279T>C (p.Leu3760Ser) c.7031T>C (p.Leu2344Ser) c.10259T>C (p.Leu3420Ser) | gnomAD v4 |
8 | g.99870791T>G | CA371793547 | VPS13B | c.*568T>G (n.*568T>G) n.11544T>G c.*7156T>G (n.*7156T>G) c.11399T>G (p.Leu3800Ter) c.11474T>G (p.Leu3825Ter) n.416T>G c.11471T>G (p.Leu3824Ter) c.11396T>G (p.Leu3799Ter) c.11096T>G (p.Leu3699Ter) c.8360T>G (p.Leu2787Ter) c.7253T>G (p.Leu2418Ter) c.11279T>G (p.Leu3760Ter) c.7031T>G (p.Leu2344Ter) c.10259T>G (p.Leu3420Ter) | |
8 | g.99870792A>C | CA371793549 | VPS13B | c.*569A>C (n.*569A>C) n.11545A>C c.*7157A>C (n.*7157A>C) c.11400A>C (p.Leu3800Phe) c.11475A>C (p.Leu3825Phe) n.417A>C c.11472A>C (p.Leu3824Phe) c.11397A>C (p.Leu3799Phe) c.11097A>C (p.Leu3699Phe) c.8361A>C (p.Leu2787Phe) c.7254A>C (p.Leu2418Phe) c.11280A>C (p.Leu3760Phe) c.7032A>C (p.Leu2344Phe) c.10260A>C (p.Leu3420Phe) | |
8 | g.99870792A>G | CA462339600 | VPS13B | c.*569A>G (n.*569A>G) n.11545A>G c.*7157A>G (n.*7157A>G) c.11400A>G (p.Leu3800=) c.11475A>G (p.Leu3825=) n.417A>G c.11472A>G (p.Leu3824=) c.11397A>G (p.Leu3799=) c.11097A>G (p.Leu3699=) c.8361A>G (p.Leu2787=) c.7254A>G (p.Leu2418=) c.11280A>G (p.Leu3760=) c.7032A>G (p.Leu2344=) c.10260A>G (p.Leu3420=) | COSMIC |
8 | g.99870792A>T | CA371793548 | VPS13B | c.*569A>T (n.*569A>T) n.11545A>T c.*7157A>T (n.*7157A>T) c.11400A>T (p.Leu3800Phe) c.11475A>T (p.Leu3825Phe) n.417A>T c.11472A>T (p.Leu3824Phe) c.11397A>T (p.Leu3799Phe) c.11097A>T (p.Leu3699Phe) c.8361A>T (p.Leu2787Phe) c.7254A>T (p.Leu2418Phe) c.11280A>T (p.Leu3760Phe) c.7032A>T (p.Leu2344Phe) c.10260A>T (p.Leu3420Phe) | |
8 | g.99870793C>A | CA371793550 | VPS13B | c.*570C>A (n.*570C>A) n.11546C>A c.*7158C>A (n.*7158C>A) c.11401C>A (p.His3801Asn) c.11476C>A (p.His3826Asn) n.418C>A c.11473C>A (p.His3825Asn) c.11398C>A (p.His3800Asn) c.11098C>A (p.His3700Asn) c.8362C>A (p.His2788Asn) c.7255C>A (p.His2419Asn) c.11281C>A (p.His3761Asn) c.7033C>A (p.His2345Asn) c.10261C>A (p.His3421Asn) | |
8 | g.99870793C>G | CA371793551 | VPS13B | c.*570C>G (n.*570C>G) n.11546C>G c.*7158C>G (n.*7158C>G) c.11401C>G (p.His3801Asp) c.11476C>G (p.His3826Asp) n.418C>G c.11473C>G (p.His3825Asp) c.11398C>G (p.His3800Asp) c.11098C>G (p.His3700Asp) c.8362C>G (p.His2788Asp) c.7255C>G (p.His2419Asp) c.11281C>G (p.His3761Asp) c.7033C>G (p.His2345Asp) c.10261C>G (p.His3421Asp) | |
8 | g.99870793C>T | CA371793552 | VPS13B | c.*570C>T (n.*570C>T) n.11546C>T c.*7158C>T (n.*7158C>T) c.11401C>T (p.His3801Tyr) c.11476C>T (p.His3826Tyr) n.418C>T c.11473C>T (p.His3825Tyr) c.11398C>T (p.His3800Tyr) c.11098C>T (p.His3700Tyr) c.8362C>T (p.His2788Tyr) c.7255C>T (p.His2419Tyr) c.11281C>T (p.His3761Tyr) c.7033C>T (p.His2345Tyr) c.10261C>T (p.His3421Tyr) | ClinVar dbSNP COSMIC COSMIC |
8 | g.99870794A>C | CA371793553 | VPS13B | c.*571A>C (n.*571A>C) n.11547A>C c.*7159A>C (n.*7159A>C) c.11402A>C (p.His3801Pro) c.11477A>C (p.His3826Pro) n.419A>C c.11474A>C (p.His3825Pro) c.11399A>C (p.His3800Pro) c.11099A>C (p.His3700Pro) c.8363A>C (p.His2788Pro) c.7256A>C (p.His2419Pro) c.11282A>C (p.His3761Pro) c.7034A>C (p.His2345Pro) c.10262A>C (p.His3421Pro) | |
8 | g.99870794A>G | CA371793554 | VPS13B | c.*571A>G (n.*571A>G) n.11547A>G c.*7159A>G (n.*7159A>G) c.11402A>G (p.His3801Arg) c.11477A>G (p.His3826Arg) n.419A>G c.11474A>G (p.His3825Arg) c.11399A>G (p.His3800Arg) c.11099A>G (p.His3700Arg) c.8363A>G (p.His2788Arg) c.7256A>G (p.His2419Arg) c.11282A>G (p.His3761Arg) c.7034A>G (p.His2345Arg) c.10262A>G (p.His3421Arg) | |
8 | g.99870794A>T | CA371793555 | VPS13B | c.*571A>T (n.*571A>T) n.11547A>T c.*7159A>T (n.*7159A>T) c.11402A>T (p.His3801Leu) c.11477A>T (p.His3826Leu) n.419A>T c.11474A>T (p.His3825Leu) c.11399A>T (p.His3800Leu) c.11099A>T (p.His3700Leu) c.8363A>T (p.His2788Leu) c.7256A>T (p.His2419Leu) c.11282A>T (p.His3761Leu) c.7034A>T (p.His2345Leu) c.10262A>T (p.His3421Leu) | |
8 | g.99870795T>A | CA371793556 | VPS13B | c.*572T>A (n.*572T>A) n.11548T>A c.*7160T>A (n.*7160T>A) c.11403T>A (p.His3801Gln) c.11478T>A (p.His3826Gln) n.420T>A c.11475T>A (p.His3825Gln) c.11400T>A (p.His3800Gln) c.11100T>A (p.His3700Gln) c.8364T>A (p.His2788Gln) c.7257T>A (p.His2419Gln) c.11283T>A (p.His3761Gln) c.7035T>A (p.His2345Gln) c.10263T>A (p.His3421Gln) | |
8 | g.99870795T>C | CA4825239 | VPS13B | c.*572T>C (n.*572T>C) n.11548T>C c.*7160T>C (n.*7160T>C) c.11403T>C (p.His3801=) c.11478T>C (p.His3826=) n.420T>C c.11475T>C (p.His3825=) c.11400T>C (p.His3800=) c.11100T>C (p.His3700=) c.8364T>C (p.His2788=) c.7257T>C (p.His2419=) c.11283T>C (p.His3761=) c.7035T>C (p.His2345=) c.10263T>C (p.His3421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870795T>G | CA371793557 | VPS13B | c.*572T>G (n.*572T>G) n.11548T>G c.*7160T>G (n.*7160T>G) c.11403T>G (p.His3801Gln) c.11478T>G (p.His3826Gln) n.420T>G c.11475T>G (p.His3825Gln) c.11400T>G (p.His3800Gln) c.11100T>G (p.His3700Gln) c.8364T>G (p.His2788Gln) c.7257T>G (p.His2419Gln) c.11283T>G (p.His3761Gln) c.7035T>G (p.His2345Gln) c.10263T>G (p.His3421Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99870796G>A | CA371793558 | VPS13B | c.*573G>A (n.*573G>A) n.11549G>A c.*7161G>A (n.*7161G>A) c.11404G>A (p.Gly3802Arg) c.11479G>A (p.Gly3827Arg) n.421G>A c.11476G>A (p.Gly3826Arg) c.11401G>A (p.Gly3801Arg) c.11101G>A (p.Gly3701Arg) c.8365G>A (p.Gly2789Arg) c.7258G>A (p.Gly2420Arg) c.11284G>A (p.Gly3762Arg) c.7036G>A (p.Gly2346Arg) c.10264G>A (p.Gly3422Arg) | |
8 | g.99870796G>C | CA371793559 | VPS13B | c.*573G>C (n.*573G>C) n.11549G>C c.*7161G>C (n.*7161G>C) c.11404G>C (p.Gly3802Arg) c.11479G>C (p.Gly3827Arg) n.421G>C c.11476G>C (p.Gly3826Arg) c.11401G>C (p.Gly3801Arg) c.11101G>C (p.Gly3701Arg) c.8365G>C (p.Gly2789Arg) c.7258G>C (p.Gly2420Arg) c.11284G>C (p.Gly3762Arg) c.7036G>C (p.Gly2346Arg) c.10264G>C (p.Gly3422Arg) | |
8 | g.99870796G>T | CA371793560 | VPS13B | c.*573G>T (n.*573G>T) n.11549G>T c.*7161G>T (n.*7161G>T) c.11404G>T (p.Gly3802Ter) c.11479G>T (p.Gly3827Ter) n.421G>T c.11476G>T (p.Gly3826Ter) c.11401G>T (p.Gly3801Ter) c.11101G>T (p.Gly3701Ter) c.8365G>T (p.Gly2789Ter) c.7258G>T (p.Gly2420Ter) c.11284G>T (p.Gly3762Ter) c.7036G>T (p.Gly2346Ter) c.10264G>T (p.Gly3422Ter) | |
8 | g.99870797G>A | CA371793563 | VPS13B | c.*574G>A (n.*574G>A) n.11550G>A c.*7162G>A (n.*7162G>A) c.11405G>A (p.Gly3802Glu) c.11480G>A (p.Gly3827Glu) n.422G>A c.11477G>A (p.Gly3826Glu) c.11402G>A (p.Gly3801Glu) c.11102G>A (p.Gly3701Glu) c.8366G>A (p.Gly2789Glu) c.7259G>A (p.Gly2420Glu) c.11285G>A (p.Gly3762Glu) c.7037G>A (p.Gly2346Glu) c.10265G>A (p.Gly3422Glu) | |
8 | g.99870797G>C | CA371793562 | VPS13B | c.*574G>C (n.*574G>C) n.11550G>C c.*7162G>C (n.*7162G>C) c.11405G>C (p.Gly3802Ala) c.11480G>C (p.Gly3827Ala) n.422G>C c.11477G>C (p.Gly3826Ala) c.11402G>C (p.Gly3801Ala) c.11102G>C (p.Gly3701Ala) c.8366G>C (p.Gly2789Ala) c.7259G>C (p.Gly2420Ala) c.11285G>C (p.Gly3762Ala) c.7037G>C (p.Gly2346Ala) c.10265G>C (p.Gly3422Ala) | gnomAD v4 |
8 | g.99870797G>T | CA371793561 | VPS13B | c.*574G>T (n.*574G>T) n.11550G>T c.*7162G>T (n.*7162G>T) c.11405G>T (p.Gly3802Val) c.11480G>T (p.Gly3827Val) n.422G>T c.11477G>T (p.Gly3826Val) c.11402G>T (p.Gly3801Val) c.11102G>T (p.Gly3701Val) c.8366G>T (p.Gly2789Val) c.7259G>T (p.Gly2420Val) c.11285G>T (p.Gly3762Val) c.7037G>T (p.Gly2346Val) c.10265G>T (p.Gly3422Val) | |
8 | g.99870798A>C | CA462339607 | VPS13B | c.*575A>C (n.*575A>C) n.11551A>C c.*7163A>C (n.*7163A>C) c.11406A>C (p.Gly3802=) c.11481A>C (p.Gly3827=) n.423A>C c.11478A>C (p.Gly3826=) c.11403A>C (p.Gly3801=) c.11103A>C (p.Gly3701=) c.8367A>C (p.Gly2789=) c.7260A>C (p.Gly2420=) c.11286A>C (p.Gly3762=) c.7038A>C (p.Gly2346=) c.10266A>C (p.Gly3422=) | |
8 | g.99870798A>G | CA462339608 | VPS13B | c.*575A>G (n.*575A>G) n.11551A>G c.*7163A>G (n.*7163A>G) c.11406A>G (p.Gly3802=) c.11481A>G (p.Gly3827=) n.423A>G c.11478A>G (p.Gly3826=) c.11403A>G (p.Gly3801=) c.11103A>G (p.Gly3701=) c.8367A>G (p.Gly2789=) c.7260A>G (p.Gly2420=) c.11286A>G (p.Gly3762=) c.7038A>G (p.Gly2346=) c.10266A>G (p.Gly3422=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99870798A>T | CA462339609 | VPS13B | c.*575A>T (n.*575A>T) n.11551A>T c.*7163A>T (n.*7163A>T) c.11406A>T (p.Gly3802=) c.11481A>T (p.Gly3827=) n.423A>T c.11478A>T (p.Gly3826=) c.11403A>T (p.Gly3801=) c.11103A>T (p.Gly3701=) c.8367A>T (p.Gly2789=) c.7260A>T (p.Gly2420=) c.11286A>T (p.Gly3762=) c.7038A>T (p.Gly2346=) c.10266A>T (p.Gly3422=) | |
8 | g.99870799G>A | CA371793564 | VPS13B | c.*576G>A (n.*576G>A) n.11552G>A c.*7164G>A (n.*7164G>A) c.11407G>A (p.Ala3803Thr) c.11482G>A (p.Ala3828Thr) n.424G>A c.11479G>A (p.Ala3827Thr) c.11404G>A (p.Ala3802Thr) c.11104G>A (p.Ala3702Thr) c.8368G>A (p.Ala2790Thr) c.7261G>A (p.Ala2421Thr) c.11287G>A (p.Ala3763Thr) c.7039G>A (p.Ala2347Thr) c.10267G>A (p.Ala3423Thr) | |
8 | g.99870799G>C | CA371793565 | VPS13B | c.*576G>C (n.*576G>C) n.11552G>C c.*7164G>C (n.*7164G>C) c.11407G>C (p.Ala3803Pro) c.11482G>C (p.Ala3828Pro) n.424G>C c.11479G>C (p.Ala3827Pro) c.11404G>C (p.Ala3802Pro) c.11104G>C (p.Ala3702Pro) c.8368G>C (p.Ala2790Pro) c.7261G>C (p.Ala2421Pro) c.11287G>C (p.Ala3763Pro) c.7039G>C (p.Ala2347Pro) c.10267G>C (p.Ala3423Pro) | |
8 | g.99870799G>T | CA371793566 | VPS13B | c.*576G>T (n.*576G>T) n.11552G>T c.*7164G>T (n.*7164G>T) c.11407G>T (p.Ala3803Ser) c.11482G>T (p.Ala3828Ser) n.424G>T c.11479G>T (p.Ala3827Ser) c.11404G>T (p.Ala3802Ser) c.11104G>T (p.Ala3702Ser) c.8368G>T (p.Ala2790Ser) c.7261G>T (p.Ala2421Ser) c.11287G>T (p.Ala3763Ser) c.7039G>T (p.Ala2347Ser) c.10267G>T (p.Ala3423Ser) | |
8 | g.99870800C>A | CA371793567 | VPS13B | c.*577C>A (n.*577C>A) n.11553C>A c.*7165C>A (n.*7165C>A) c.11408C>A (p.Ala3803Asp) c.11483C>A (p.Ala3828Asp) n.425C>A c.11480C>A (p.Ala3827Asp) c.11405C>A (p.Ala3802Asp) c.11105C>A (p.Ala3702Asp) c.8369C>A (p.Ala2790Asp) c.7262C>A (p.Ala2421Asp) c.11288C>A (p.Ala3763Asp) c.7040C>A (p.Ala2347Asp) c.10268C>A (p.Ala3423Asp) | |
8 | g.99870800C>G | CA371793568 | VPS13B | c.*577C>G (n.*577C>G) n.11553C>G c.*7165C>G (n.*7165C>G) c.11408C>G (p.Ala3803Gly) c.11483C>G (p.Ala3828Gly) n.425C>G c.11480C>G (p.Ala3827Gly) c.11405C>G (p.Ala3802Gly) c.11105C>G (p.Ala3702Gly) c.8369C>G (p.Ala2790Gly) c.7262C>G (p.Ala2421Gly) c.11288C>G (p.Ala3763Gly) c.7040C>G (p.Ala2347Gly) c.10268C>G (p.Ala3423Gly) | dbSNP |
8 | g.99870800C>T | CA371793569 | VPS13B | c.*577C>T (n.*577C>T) n.11553C>T c.*7165C>T (n.*7165C>T) c.11408C>T (p.Ala3803Val) c.11483C>T (p.Ala3828Val) n.425C>T c.11480C>T (p.Ala3827Val) c.11405C>T (p.Ala3802Val) c.11105C>T (p.Ala3702Val) c.8369C>T (p.Ala2790Val) c.7262C>T (p.Ala2421Val) c.11288C>T (p.Ala3763Val) c.7040C>T (p.Ala2347Val) c.10268C>T (p.Ala3423Val) | |
8 | g.99870801T>A | CA462339615 | VPS13B | c.*578T>A (n.*578T>A) n.11554T>A c.*7166T>A (n.*7166T>A) c.11409T>A (p.Ala3803=) c.11484T>A (p.Ala3828=) n.426T>A c.11481T>A (p.Ala3827=) c.11406T>A (p.Ala3802=) c.11106T>A (p.Ala3702=) c.8370T>A (p.Ala2790=) c.7263T>A (p.Ala2421=) c.11289T>A (p.Ala3763=) c.7041T>A (p.Ala2347=) c.10269T>A (p.Ala3423=) | ClinVar dbSNP |
8 | g.99870801T>C | CA462339613 | VPS13B | c.*578T>C (n.*578T>C) n.11554T>C c.*7166T>C (n.*7166T>C) c.11409T>C (p.Ala3803=) c.11484T>C (p.Ala3828=) n.426T>C c.11481T>C (p.Ala3827=) c.11406T>C (p.Ala3802=) c.11106T>C (p.Ala3702=) c.8370T>C (p.Ala2790=) c.7263T>C (p.Ala2421=) c.11289T>C (p.Ala3763=) c.7041T>C (p.Ala2347=) c.10269T>C (p.Ala3423=) | |
8 | g.99870801T>G | CA462339614 | VPS13B | c.*578T>G (n.*578T>G) n.11554T>G c.*7166T>G (n.*7166T>G) c.11409T>G (p.Ala3803=) c.11484T>G (p.Ala3828=) n.426T>G c.11481T>G (p.Ala3827=) c.11406T>G (p.Ala3802=) c.11106T>G (p.Ala3702=) c.8370T>G (p.Ala2790=) c.7263T>G (p.Ala2421=) c.11289T>G (p.Ala3763=) c.7041T>G (p.Ala2347=) c.10269T>G (p.Ala3423=) | |
8 | g.99870802G>A | CA371793570 | VPS13B | c.*579G>A (n.*579G>A) n.11555G>A c.*7167G>A (n.*7167G>A) c.11410G>A (p.Gly3804Arg) c.11485G>A (p.Gly3829Arg) n.427G>A c.11482G>A (p.Gly3828Arg) c.11407G>A (p.Gly3803Arg) c.11107G>A (p.Gly3703Arg) c.8371G>A (p.Gly2791Arg) c.7264G>A (p.Gly2422Arg) c.11290G>A (p.Gly3764Arg) c.7042G>A (p.Gly2348Arg) c.10270G>A (p.Gly3424Arg) | gnomAD v4 |
8 | g.99870802G>C | CA371793571 | VPS13B | c.*579G>C (n.*579G>C) n.11555G>C c.*7167G>C (n.*7167G>C) c.11410G>C (p.Gly3804Arg) c.11485G>C (p.Gly3829Arg) n.427G>C c.11482G>C (p.Gly3828Arg) c.11407G>C (p.Gly3803Arg) c.11107G>C (p.Gly3703Arg) c.8371G>C (p.Gly2791Arg) c.7264G>C (p.Gly2422Arg) c.11290G>C (p.Gly3764Arg) c.7042G>C (p.Gly2348Arg) c.10270G>C (p.Gly3424Arg) | |
8 | g.99870802G>T | CA371793572 | VPS13B | c.*579G>T (n.*579G>T) n.11555G>T c.*7167G>T (n.*7167G>T) c.11410G>T (p.Gly3804Ter) c.11485G>T (p.Gly3829Ter) n.427G>T c.11482G>T (p.Gly3828Ter) c.11407G>T (p.Gly3803Ter) c.11107G>T (p.Gly3703Ter) c.8371G>T (p.Gly2791Ter) c.7264G>T (p.Gly2422Ter) c.11290G>T (p.Gly3764Ter) c.7042G>T (p.Gly2348Ter) c.10270G>T (p.Gly3424Ter) | |
8 | g.99870803dup | CA915948828 | VPS13B | c.*580dup (n.*580dup) n.11556dup c.*7168dup (n.*7168dup) c.11411dup (p.Leu3805ThrfsTer13) c.11486dup (p.Leu3830ThrfsTer13) n.428dup c.11483dup (p.Leu3829ThrfsTer13) c.11408dup (p.Leu3804ThrfsTer13) c.11108dup (p.Leu3704ThrfsTer13) c.8372dup (p.Leu2792ThrfsTer13) c.7265dup (p.Leu2423ThrfsTer13) c.11291dup (p.Leu3765ThrfsTer13) c.7043dup (p.Leu2349ThrfsTer13) c.10271dup (p.Leu3425ThrfsTer13) | ClinVar dbSNP |
8 | g.99870803G>A | CA371793573 | VPS13B | c.*580G>A (n.*580G>A) n.11556G>A c.*7168G>A (n.*7168G>A) c.11411G>A (p.Gly3804Glu) c.11486G>A (p.Gly3829Glu) n.428G>A c.11483G>A (p.Gly3828Glu) c.11408G>A (p.Gly3803Glu) c.11108G>A (p.Gly3703Glu) c.8372G>A (p.Gly2791Glu) c.7265G>A (p.Gly2422Glu) c.11291G>A (p.Gly3764Glu) c.7043G>A (p.Gly2348Glu) c.10271G>A (p.Gly3424Glu) | dbSNP |
8 | g.99870803G>C | CA371793574 | VPS13B | c.*580G>C (n.*580G>C) n.11556G>C c.*7168G>C (n.*7168G>C) c.11411G>C (p.Gly3804Ala) c.11486G>C (p.Gly3829Ala) n.428G>C c.11483G>C (p.Gly3828Ala) c.11408G>C (p.Gly3803Ala) c.11108G>C (p.Gly3703Ala) c.8372G>C (p.Gly2791Ala) c.7265G>C (p.Gly2422Ala) c.11291G>C (p.Gly3764Ala) c.7043G>C (p.Gly2348Ala) c.10271G>C (p.Gly3424Ala) | dbSNP |
8 | g.99870803G>T | CA371793575 | VPS13B | c.*580G>T (n.*580G>T) n.11556G>T c.*7168G>T (n.*7168G>T) c.11411G>T (p.Gly3804Val) c.11486G>T (p.Gly3829Val) n.428G>T c.11483G>T (p.Gly3828Val) c.11408G>T (p.Gly3803Val) c.11108G>T (p.Gly3703Val) c.8372G>T (p.Gly2791Val) c.7265G>T (p.Gly2422Val) c.11291G>T (p.Gly3764Val) c.7043G>T (p.Gly2348Val) c.10271G>T (p.Gly3424Val) | |
8 | g.99870804A>C | CA462339617 | VPS13B | c.*581A>C (n.*581A>C) n.11557A>C c.*7169A>C (n.*7169A>C) c.11412A>C (p.Gly3804=) c.11487A>C (p.Gly3829=) n.429A>C c.11484A>C (p.Gly3828=) c.11409A>C (p.Gly3803=) c.11109A>C (p.Gly3703=) c.8373A>C (p.Gly2791=) c.7266A>C (p.Gly2422=) c.11292A>C (p.Gly3764=) c.7044A>C (p.Gly2348=) c.10272A>C (p.Gly3424=) | |
8 | g.99870804A>G | CA462339618 | VPS13B | c.*581A>G (n.*581A>G) n.11557A>G c.*7169A>G (n.*7169A>G) c.11412A>G (p.Gly3804=) c.11487A>G (p.Gly3829=) n.429A>G c.11484A>G (p.Gly3828=) c.11409A>G (p.Gly3803=) c.11109A>G (p.Gly3703=) c.8373A>G (p.Gly2791=) c.7266A>G (p.Gly2422=) c.11292A>G (p.Gly3764=) c.7044A>G (p.Gly2348=) c.10272A>G (p.Gly3424=) | |
8 | g.99870804A>T | CA462339619 | VPS13B | c.*581A>T (n.*581A>T) n.11557A>T c.*7169A>T (n.*7169A>T) c.11412A>T (p.Gly3804=) c.11487A>T (p.Gly3829=) n.429A>T c.11484A>T (p.Gly3828=) c.11409A>T (p.Gly3803=) c.11109A>T (p.Gly3703=) c.8373A>T (p.Gly2791=) c.7266A>T (p.Gly2422=) c.11292A>T (p.Gly3764=) c.7044A>T (p.Gly2348=) c.10272A>T (p.Gly3424=) | |
8 | g.99870805C>A | CA371793578 | VPS13B | c.*582C>A (n.*582C>A) n.11558C>A c.*7170C>A (n.*7170C>A) c.11413C>A (p.Leu3805Ile) c.11488C>A (p.Leu3830Ile) n.430C>A c.11485C>A (p.Leu3829Ile) c.11410C>A (p.Leu3804Ile) c.11110C>A (p.Leu3704Ile) c.8374C>A (p.Leu2792Ile) c.7267C>A (p.Leu2423Ile) c.11293C>A (p.Leu3765Ile) c.7045C>A (p.Leu2349Ile) c.10273C>A (p.Leu3425Ile) | |
8 | g.99870805C>G | CA371793577 | VPS13B | c.*582C>G (n.*582C>G) n.11558C>G c.*7170C>G (n.*7170C>G) c.11413C>G (p.Leu3805Val) c.11488C>G (p.Leu3830Val) n.430C>G c.11485C>G (p.Leu3829Val) c.11410C>G (p.Leu3804Val) c.11110C>G (p.Leu3704Val) c.8374C>G (p.Leu2792Val) c.7267C>G (p.Leu2423Val) c.11293C>G (p.Leu3765Val) c.7045C>G (p.Leu2349Val) c.10273C>G (p.Leu3425Val) | |
8 | g.99870805C>T | CA371793576 | VPS13B | c.*582C>T (n.*582C>T) n.11558C>T c.*7170C>T (n.*7170C>T) c.11413C>T (p.Leu3805Phe) c.11488C>T (p.Leu3830Phe) n.430C>T c.11485C>T (p.Leu3829Phe) c.11410C>T (p.Leu3804Phe) c.11110C>T (p.Leu3704Phe) c.8374C>T (p.Leu2792Phe) c.7267C>T (p.Leu2423Phe) c.11293C>T (p.Leu3765Phe) c.7045C>T (p.Leu2349Phe) c.10273C>T (p.Leu3425Phe) | |
8 | g.99870805_99870806del | CA2580079248 | VPS13B | c.*582_*583del (n.*582_*583del) n.11558_11559del c.*7170_*7171del (n.*7170_*7171del) c.11413_11414del (p.Leu3805PhefsTer12) c.11488_11489del (p.Leu3830PhefsTer12) n.430_431del c.11485_11486del (p.Leu3829PhefsTer12) c.11410_11411del (p.Leu3804PhefsTer12) c.11110_11111del (p.Leu3704PhefsTer12) c.8374_8375del (p.Leu2792PhefsTer12) c.7267_7268del (p.Leu2423PhefsTer12) c.11293_11294del (p.Leu3765PhefsTer12) c.7045_7046del (p.Leu2349PhefsTer12) c.10273_10274del (p.Leu3425PhefsTer12) | ClinVar gnomAD v4 |
8 | g.99870806T>A | CA371793579 | VPS13B | c.*583T>A (n.*583T>A) n.11559T>A c.*7171T>A (n.*7171T>A) c.11414T>A (p.Leu3805His) c.11489T>A (p.Leu3830His) n.431T>A c.11486T>A (p.Leu3829His) c.11411T>A (p.Leu3804His) c.11111T>A (p.Leu3704His) c.8375T>A (p.Leu2792His) c.7268T>A (p.Leu2423His) c.11294T>A (p.Leu3765His) c.7046T>A (p.Leu2349His) c.10274T>A (p.Leu3425His) | |
8 | g.99870806T>C | CA371793580 | VPS13B | c.*583T>C (n.*583T>C) n.11559T>C c.*7171T>C (n.*7171T>C) c.11414T>C (p.Leu3805Pro) c.11489T>C (p.Leu3830Pro) n.431T>C c.11486T>C (p.Leu3829Pro) c.11411T>C (p.Leu3804Pro) c.11111T>C (p.Leu3704Pro) c.8375T>C (p.Leu2792Pro) c.7268T>C (p.Leu2423Pro) c.11294T>C (p.Leu3765Pro) c.7046T>C (p.Leu2349Pro) c.10274T>C (p.Leu3425Pro) | |
8 | g.99870806T>G | CA371793581 | VPS13B | c.*583T>G (n.*583T>G) n.11559T>G c.*7171T>G (n.*7171T>G) c.11414T>G (p.Leu3805Arg) c.11489T>G (p.Leu3830Arg) n.431T>G c.11486T>G (p.Leu3829Arg) c.11411T>G (p.Leu3804Arg) c.11111T>G (p.Leu3704Arg) c.8375T>G (p.Leu2792Arg) c.7268T>G (p.Leu2423Arg) c.11294T>G (p.Leu3765Arg) c.7046T>G (p.Leu2349Arg) c.10274T>G (p.Leu3425Arg) | |
8 | g.99870808dup | CA2580079249 | VPS13B | c.*585dup (n.*585dup) n.11561dup c.*7173dup (n.*7173dup) c.11416dup (p.Ser3806PhefsTer12) c.11491dup (p.Ser3831PhefsTer12) n.433dup c.11488dup (p.Ser3830PhefsTer12) c.11413dup (p.Ser3805PhefsTer12) c.11113dup (p.Ser3705PhefsTer12) c.8377dup (p.Ser2793PhefsTer12) c.7270dup (p.Ser2424PhefsTer12) c.11296dup (p.Ser3766PhefsTer12) c.7048dup (p.Ser2350PhefsTer12) c.10276dup (p.Ser3426PhefsTer12) | ClinVar |
8 | g.99870807T>A | CA462339621 | VPS13B | c.*584T>A (n.*584T>A) n.11560T>A c.*7172T>A (n.*7172T>A) c.11415T>A (p.Leu3805=) c.11490T>A (p.Leu3830=) n.432T>A c.11487T>A (p.Leu3829=) c.11412T>A (p.Leu3804=) c.11112T>A (p.Leu3704=) c.8376T>A (p.Leu2792=) c.7269T>A (p.Leu2423=) c.11295T>A (p.Leu3765=) c.7047T>A (p.Leu2349=) c.10275T>A (p.Leu3425=) | |
8 | g.99870807T>C | CA462339622 | VPS13B | c.*584T>C (n.*584T>C) n.11560T>C c.*7172T>C (n.*7172T>C) c.11415T>C (p.Leu3805=) c.11490T>C (p.Leu3830=) n.432T>C c.11487T>C (p.Leu3829=) c.11412T>C (p.Leu3804=) c.11112T>C (p.Leu3704=) c.8376T>C (p.Leu2792=) c.7269T>C (p.Leu2423=) c.11295T>C (p.Leu3765=) c.7047T>C (p.Leu2349=) c.10275T>C (p.Leu3425=) | |
8 | g.99870807T>G | CA462339623 | VPS13B | c.*584T>G (n.*584T>G) n.11560T>G c.*7172T>G (n.*7172T>G) c.11415T>G (p.Leu3805=) c.11490T>G (p.Leu3830=) n.432T>G c.11487T>G (p.Leu3829=) c.11412T>G (p.Leu3804=) c.11112T>G (p.Leu3704=) c.8376T>G (p.Leu2792=) c.7269T>G (p.Leu2423=) c.11295T>G (p.Leu3765=) c.7047T>G (p.Leu2349=) c.10275T>G (p.Leu3425=) | ClinVar dbSNP COSMIC COSMIC |
8 | g.99870808T>A | CA371793582 | VPS13B | c.*585T>A (n.*585T>A) n.11561T>A c.*7173T>A (n.*7173T>A) c.11416T>A (p.Ser3806Thr) c.11491T>A (p.Ser3831Thr) n.433T>A c.11488T>A (p.Ser3830Thr) c.11413T>A (p.Ser3805Thr) c.11113T>A (p.Ser3705Thr) c.8377T>A (p.Ser2793Thr) c.7270T>A (p.Ser2424Thr) c.11296T>A (p.Ser3766Thr) c.7048T>A (p.Ser2350Thr) c.10276T>A (p.Ser3426Thr) | |
8 | g.99870808T>C | CA371793583 | VPS13B | c.*585T>C (n.*585T>C) n.11561T>C c.*7173T>C (n.*7173T>C) c.11416T>C (p.Ser3806Pro) c.11491T>C (p.Ser3831Pro) n.433T>C c.11488T>C (p.Ser3830Pro) c.11413T>C (p.Ser3805Pro) c.11113T>C (p.Ser3705Pro) c.8377T>C (p.Ser2793Pro) c.7270T>C (p.Ser2424Pro) c.11296T>C (p.Ser3766Pro) c.7048T>C (p.Ser2350Pro) c.10276T>C (p.Ser3426Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870808T>G | CA371793584 | VPS13B | c.*585T>G (n.*585T>G) n.11561T>G c.*7173T>G (n.*7173T>G) c.11416T>G (p.Ser3806Ala) c.11491T>G (p.Ser3831Ala) n.433T>G c.11488T>G (p.Ser3830Ala) c.11413T>G (p.Ser3805Ala) c.11113T>G (p.Ser3705Ala) c.8377T>G (p.Ser2793Ala) c.7270T>G (p.Ser2424Ala) c.11296T>G (p.Ser3766Ala) c.7048T>G (p.Ser2350Ala) c.10276T>G (p.Ser3426Ala) | gnomAD v4 |
8 | g.99870809C>A | CA371793585 | VPS13B | c.*586C>A (n.*586C>A) n.11562C>A c.*7174C>A (n.*7174C>A) c.11417C>A (p.Ser3806Tyr) c.11492C>A (p.Ser3831Tyr) n.434C>A c.11489C>A (p.Ser3830Tyr) c.11414C>A (p.Ser3805Tyr) c.11114C>A (p.Ser3705Tyr) c.8378C>A (p.Ser2793Tyr) c.7271C>A (p.Ser2424Tyr) c.11297C>A (p.Ser3766Tyr) c.7049C>A (p.Ser2350Tyr) c.10277C>A (p.Ser3426Tyr) | |
8 | g.99870809C>G | CA371793586 | VPS13B | c.*586C>G (n.*586C>G) n.11562C>G c.*7174C>G (n.*7174C>G) c.11417C>G (p.Ser3806Cys) c.11492C>G (p.Ser3831Cys) n.434C>G c.11489C>G (p.Ser3830Cys) c.11414C>G (p.Ser3805Cys) c.11114C>G (p.Ser3705Cys) c.8378C>G (p.Ser2793Cys) c.7271C>G (p.Ser2424Cys) c.11297C>G (p.Ser3766Cys) c.7049C>G (p.Ser2350Cys) c.10277C>G (p.Ser3426Cys) | |
8 | g.99870809C>T | CA371793587 | VPS13B | c.*586C>T (n.*586C>T) n.11562C>T c.*7174C>T (n.*7174C>T) c.11417C>T (p.Ser3806Phe) c.11492C>T (p.Ser3831Phe) n.434C>T c.11489C>T (p.Ser3830Phe) c.11414C>T (p.Ser3805Phe) c.11114C>T (p.Ser3705Phe) c.8378C>T (p.Ser2793Phe) c.7271C>T (p.Ser2424Phe) c.11297C>T (p.Ser3766Phe) c.7049C>T (p.Ser2350Phe) c.10277C>T (p.Ser3426Phe) | COSMIC COSMIC |
8 | g.99870810T>A | CA462339629 | VPS13B | c.*587T>A (n.*587T>A) n.11563T>A c.*7175T>A (n.*7175T>A) c.11418T>A (p.Ser3806=) c.11493T>A (p.Ser3831=) n.435T>A c.11490T>A (p.Ser3830=) c.11415T>A (p.Ser3805=) c.11115T>A (p.Ser3705=) c.8379T>A (p.Ser2793=) c.7272T>A (p.Ser2424=) c.11298T>A (p.Ser3766=) c.7050T>A (p.Ser2350=) c.10278T>A (p.Ser3426=) | |
8 | g.99870810T>C | CA462339630 | VPS13B | c.*587T>C (n.*587T>C) n.11563T>C c.*7175T>C (n.*7175T>C) c.11418T>C (p.Ser3806=) c.11493T>C (p.Ser3831=) n.435T>C c.11490T>C (p.Ser3830=) c.11415T>C (p.Ser3805=) c.11115T>C (p.Ser3705=) c.8379T>C (p.Ser2793=) c.7272T>C (p.Ser2424=) c.11298T>C (p.Ser3766=) c.7050T>C (p.Ser2350=) c.10278T>C (p.Ser3426=) | ClinVar dbSNP |
8 | g.99870810T>G | CA462339631 | VPS13B | c.*587T>G (n.*587T>G) n.11563T>G c.*7175T>G (n.*7175T>G) c.11418T>G (p.Ser3806=) c.11493T>G (p.Ser3831=) n.435T>G c.11490T>G (p.Ser3830=) c.11415T>G (p.Ser3805=) c.11115T>G (p.Ser3705=) c.8379T>G (p.Ser2793=) c.7272T>G (p.Ser2424=) c.11298T>G (p.Ser3766=) c.7050T>G (p.Ser2350=) c.10278T>G (p.Ser3426=) | |
8 | g.99870811C>A | CA371793588 | VPS13B | c.*588C>A (n.*588C>A) n.11564C>A c.*7176C>A (n.*7176C>A) c.11419C>A (p.Gln3807Lys) c.11494C>A (p.Gln3832Lys) n.436C>A c.11491C>A (p.Gln3831Lys) c.11416C>A (p.Gln3806Lys) c.11116C>A (p.Gln3706Lys) c.8380C>A (p.Gln2794Lys) c.7273C>A (p.Gln2425Lys) c.11299C>A (p.Gln3767Lys) c.7051C>A (p.Gln2351Lys) c.10279C>A (p.Gln3427Lys) | gnomAD v4 |
8 | g.99870811C>G | CA371793589 | VPS13B | c.*588C>G (n.*588C>G) n.11564C>G c.*7176C>G (n.*7176C>G) c.11419C>G (p.Gln3807Glu) c.11494C>G (p.Gln3832Glu) n.436C>G c.11491C>G (p.Gln3831Glu) c.11416C>G (p.Gln3806Glu) c.11116C>G (p.Gln3706Glu) c.8380C>G (p.Gln2794Glu) c.7273C>G (p.Gln2425Glu) c.11299C>G (p.Gln3767Glu) c.7051C>G (p.Gln2351Glu) c.10279C>G (p.Gln3427Glu) | |
8 | g.99870811C>T | CA371793590 | VPS13B | c.*588C>T (n.*588C>T) n.11564C>T c.*7176C>T (n.*7176C>T) c.11419C>T (p.Gln3807Ter) c.11494C>T (p.Gln3832Ter) n.436C>T c.11491C>T (p.Gln3831Ter) c.11416C>T (p.Gln3806Ter) c.11116C>T (p.Gln3706Ter) c.8380C>T (p.Gln2794Ter) c.7273C>T (p.Gln2425Ter) c.11299C>T (p.Gln3767Ter) c.7051C>T (p.Gln2351Ter) c.10279C>T (p.Gln3427Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.99870812A>C | CA371793593 | VPS13B | c.*589A>C (n.*589A>C) n.11565A>C c.*7177A>C (n.*7177A>C) c.11420A>C (p.Gln3807Pro) c.11495A>C (p.Gln3832Pro) n.437A>C c.11492A>C (p.Gln3831Pro) c.11417A>C (p.Gln3806Pro) c.11117A>C (p.Gln3706Pro) c.8381A>C (p.Gln2794Pro) c.7274A>C (p.Gln2425Pro) c.11300A>C (p.Gln3767Pro) c.7052A>C (p.Gln2351Pro) c.10280A>C (p.Gln3427Pro) | |
8 | g.99870812A>G | CA371793592 | VPS13B | c.*589A>G (n.*589A>G) n.11565A>G c.*7177A>G (n.*7177A>G) c.11420A>G (p.Gln3807Arg) c.11495A>G (p.Gln3832Arg) n.437A>G c.11492A>G (p.Gln3831Arg) c.11417A>G (p.Gln3806Arg) c.11117A>G (p.Gln3706Arg) c.8381A>G (p.Gln2794Arg) c.7274A>G (p.Gln2425Arg) c.11300A>G (p.Gln3767Arg) c.7052A>G (p.Gln2351Arg) c.10280A>G (p.Gln3427Arg) | |
8 | g.99870812A>T | CA371793591 | VPS13B | c.*589A>T (n.*589A>T) n.11565A>T c.*7177A>T (n.*7177A>T) c.11420A>T (p.Gln3807Leu) c.11495A>T (p.Gln3832Leu) n.437A>T c.11492A>T (p.Gln3831Leu) c.11417A>T (p.Gln3806Leu) c.11117A>T (p.Gln3706Leu) c.8381A>T (p.Gln2794Leu) c.7274A>T (p.Gln2425Leu) c.11300A>T (p.Gln3767Leu) c.7052A>T (p.Gln2351Leu) c.10280A>T (p.Gln3427Leu) | |
8 | g.99870813G>A | CA462339636 | VPS13B | c.*590G>A (n.*590G>A) n.11566G>A c.*7178G>A (n.*7178G>A) c.11421G>A (p.Gln3807=) c.11496G>A (p.Gln3832=) n.438G>A c.11493G>A (p.Gln3831=) c.11418G>A (p.Gln3806=) c.11118G>A (p.Gln3706=) c.8382G>A (p.Gln2794=) c.7275G>A (p.Gln2425=) c.11301G>A (p.Gln3767=) c.7053G>A (p.Gln2351=) c.10281G>A (p.Gln3427=) | |
8 | g.99870813G>C | CA371793594 | VPS13B | c.*590G>C (n.*590G>C) n.11566G>C c.*7178G>C (n.*7178G>C) c.11421G>C (p.Gln3807His) c.11496G>C (p.Gln3832His) n.438G>C c.11493G>C (p.Gln3831His) c.11418G>C (p.Gln3806His) c.11118G>C (p.Gln3706His) c.8382G>C (p.Gln2794His) c.7275G>C (p.Gln2425His) c.11301G>C (p.Gln3767His) c.7053G>C (p.Gln2351His) c.10281G>C (p.Gln3427His) | |
8 | g.99870813G>T | CA371793595 | VPS13B | c.*590G>T (n.*590G>T) n.11566G>T c.*7178G>T (n.*7178G>T) c.11421G>T (p.Gln3807His) c.11496G>T (p.Gln3832His) n.438G>T c.11493G>T (p.Gln3831His) c.11418G>T (p.Gln3806His) c.11118G>T (p.Gln3706His) c.8382G>T (p.Gln2794His) c.7275G>T (p.Gln2425His) c.11301G>T (p.Gln3767His) c.7053G>T (p.Gln2351His) c.10281G>T (p.Gln3427His) | |
8 | g.99870814C>A | CA371793596 | VPS13B | c.*591C>A (n.*591C>A) n.11567C>A c.*7179C>A (n.*7179C>A) c.11422C>A (p.Leu3808Ile) c.11497C>A (p.Leu3833Ile) n.439C>A c.11494C>A (p.Leu3832Ile) c.11419C>A (p.Leu3807Ile) c.11119C>A (p.Leu3707Ile) c.8383C>A (p.Leu2795Ile) c.7276C>A (p.Leu2426Ile) c.11302C>A (p.Leu3768Ile) c.7054C>A (p.Leu2352Ile) c.10282C>A (p.Leu3428Ile) | |
8 | g.99870814C>G | CA371793597 | VPS13B | c.*591C>G (n.*591C>G) n.11567C>G c.*7179C>G (n.*7179C>G) c.11422C>G (p.Leu3808Val) c.11497C>G (p.Leu3833Val) n.439C>G c.11494C>G (p.Leu3832Val) c.11419C>G (p.Leu3807Val) c.11119C>G (p.Leu3707Val) c.8383C>G (p.Leu2795Val) c.7276C>G (p.Leu2426Val) c.11302C>G (p.Leu3768Val) c.7054C>G (p.Leu2352Val) c.10282C>G (p.Leu3428Val) | |
8 | g.99870814C>T | CA371793598 | VPS13B | c.*591C>T (n.*591C>T) n.11567C>T c.*7179C>T (n.*7179C>T) c.11422C>T (p.Leu3808Phe) c.11497C>T (p.Leu3833Phe) n.439C>T c.11494C>T (p.Leu3832Phe) c.11419C>T (p.Leu3807Phe) c.11119C>T (p.Leu3707Phe) c.8383C>T (p.Leu2795Phe) c.7276C>T (p.Leu2426Phe) c.11302C>T (p.Leu3768Phe) c.7054C>T (p.Leu2352Phe) c.10282C>T (p.Leu3428Phe) | gnomAD v4 |
8 | g.99870815T>A | CA371793599 | VPS13B | c.*592T>A (n.*592T>A) n.11568T>A c.*7180T>A (n.*7180T>A) c.11423T>A (p.Leu3808His) c.11498T>A (p.Leu3833His) n.440T>A c.11495T>A (p.Leu3832His) c.11420T>A (p.Leu3807His) c.11120T>A (p.Leu3707His) c.8384T>A (p.Leu2795His) c.7277T>A (p.Leu2426His) c.11303T>A (p.Leu3768His) c.7055T>A (p.Leu2352His) c.10283T>A (p.Leu3428His) | |
8 | g.99870815T>C | CA371793600 | VPS13B | c.*592T>C (n.*592T>C) n.11568T>C c.*7180T>C (n.*7180T>C) c.11423T>C (p.Leu3808Pro) c.11498T>C (p.Leu3833Pro) n.440T>C c.11495T>C (p.Leu3832Pro) c.11420T>C (p.Leu3807Pro) c.11120T>C (p.Leu3707Pro) c.8384T>C (p.Leu2795Pro) c.7277T>C (p.Leu2426Pro) c.11303T>C (p.Leu3768Pro) c.7055T>C (p.Leu2352Pro) c.10283T>C (p.Leu3428Pro) | gnomAD v4 |
8 | g.99870815T>G | CA371793601 | VPS13B | c.*592T>G (n.*592T>G) n.11568T>G c.*7180T>G (n.*7180T>G) c.11423T>G (p.Leu3808Arg) c.11498T>G (p.Leu3833Arg) n.440T>G c.11495T>G (p.Leu3832Arg) c.11420T>G (p.Leu3807Arg) c.11120T>G (p.Leu3707Arg) c.8384T>G (p.Leu2795Arg) c.7277T>G (p.Leu2426Arg) c.11303T>G (p.Leu3768Arg) c.7055T>G (p.Leu2352Arg) c.10283T>G (p.Leu3428Arg) | |
8 | g.99870816T>A | CA462339640 | VPS13B | c.*593T>A (n.*593T>A) n.11569T>A c.*7181T>A (n.*7181T>A) c.11424T>A (p.Leu3808=) c.11499T>A (p.Leu3833=) n.441T>A c.11496T>A (p.Leu3832=) c.11421T>A (p.Leu3807=) c.11121T>A (p.Leu3707=) c.8385T>A (p.Leu2795=) c.7278T>A (p.Leu2426=) c.11304T>A (p.Leu3768=) c.7056T>A (p.Leu2352=) c.10284T>A (p.Leu3428=) | |
8 | g.99870816T>C | CA462339641 | VPS13B | c.*593T>C (n.*593T>C) n.11569T>C c.*7181T>C (n.*7181T>C) c.11424T>C (p.Leu3808=) c.11499T>C (p.Leu3833=) n.441T>C c.11496T>C (p.Leu3832=) c.11421T>C (p.Leu3807=) c.11121T>C (p.Leu3707=) c.8385T>C (p.Leu2795=) c.7278T>C (p.Leu2426=) c.11304T>C (p.Leu3768=) c.7056T>C (p.Leu2352=) c.10284T>C (p.Leu3428=) | |
8 | g.99870816T>G | CA462339642 | VPS13B | c.*593T>G (n.*593T>G) n.11569T>G c.*7181T>G (n.*7181T>G) c.11424T>G (p.Leu3808=) c.11499T>G (p.Leu3833=) n.441T>G c.11496T>G (p.Leu3832=) c.11421T>G (p.Leu3807=) c.11121T>G (p.Leu3707=) c.8385T>G (p.Leu2795=) c.7278T>G (p.Leu2426=) c.11304T>G (p.Leu3768=) c.7056T>G (p.Leu2352=) c.10284T>G (p.Leu3428=) | |
8 | g.99870817C>A | CA371793604 | VPS13B | c.*594C>A (n.*594C>A) n.11570C>A c.*7182C>A (n.*7182C>A) c.11425C>A (p.Pro3809Thr) c.11500C>A (p.Pro3834Thr) n.442C>A c.11497C>A (p.Pro3833Thr) c.11422C>A (p.Pro3808Thr) c.11122C>A (p.Pro3708Thr) c.8386C>A (p.Pro2796Thr) c.7279C>A (p.Pro2427Thr) c.11305C>A (p.Pro3769Thr) c.7057C>A (p.Pro2353Thr) c.10285C>A (p.Pro3429Thr) | |
8 | g.99870817C>G | CA371793603 | VPS13B | c.*594C>G (n.*594C>G) n.11570C>G c.*7182C>G (n.*7182C>G) c.11425C>G (p.Pro3809Ala) c.11500C>G (p.Pro3834Ala) n.442C>G c.11497C>G (p.Pro3833Ala) c.11422C>G (p.Pro3808Ala) c.11122C>G (p.Pro3708Ala) c.8386C>G (p.Pro2796Ala) c.7279C>G (p.Pro2427Ala) c.11305C>G (p.Pro3769Ala) c.7057C>G (p.Pro2353Ala) c.10285C>G (p.Pro3429Ala) | |
8 | g.99870817C>T | CA371793602 | VPS13B | c.*594C>T (n.*594C>T) n.11570C>T c.*7182C>T (n.*7182C>T) c.11425C>T (p.Pro3809Ser) c.11500C>T (p.Pro3834Ser) n.442C>T c.11497C>T (p.Pro3833Ser) c.11422C>T (p.Pro3808Ser) c.11122C>T (p.Pro3708Ser) c.8386C>T (p.Pro2796Ser) c.7279C>T (p.Pro2427Ser) c.11305C>T (p.Pro3769Ser) c.7057C>T (p.Pro2353Ser) c.10285C>T (p.Pro3429Ser) | dbSNP gnomAD v4 |
8 | g.99870818C>A | CA371793605 | VPS13B | c.*595C>A (n.*595C>A) n.11571C>A c.*7183C>A (n.*7183C>A) c.11426C>A (p.Pro3809His) c.11501C>A (p.Pro3834His) n.443C>A c.11498C>A (p.Pro3833His) c.11423C>A (p.Pro3808His) c.11123C>A (p.Pro3708His) c.8387C>A (p.Pro2796His) c.7280C>A (p.Pro2427His) c.11306C>A (p.Pro3769His) c.7058C>A (p.Pro2353His) c.10286C>A (p.Pro3429His) | |
8 | g.99870818C>G | CA371793606 | VPS13B | c.*595C>G (n.*595C>G) n.11571C>G c.*7183C>G (n.*7183C>G) c.11426C>G (p.Pro3809Arg) c.11501C>G (p.Pro3834Arg) n.443C>G c.11498C>G (p.Pro3833Arg) c.11423C>G (p.Pro3808Arg) c.11123C>G (p.Pro3708Arg) c.8387C>G (p.Pro2796Arg) c.7280C>G (p.Pro2427Arg) c.11306C>G (p.Pro3769Arg) c.7058C>G (p.Pro2353Arg) c.10286C>G (p.Pro3429Arg) | |
8 | g.99870818C>T | CA371793607 | VPS13B | c.*595C>T (n.*595C>T) n.11571C>T c.*7183C>T (n.*7183C>T) c.11426C>T (p.Pro3809Leu) c.11501C>T (p.Pro3834Leu) n.443C>T c.11498C>T (p.Pro3833Leu) c.11423C>T (p.Pro3808Leu) c.11123C>T (p.Pro3708Leu) c.8387C>T (p.Pro2796Leu) c.7280C>T (p.Pro2427Leu) c.11306C>T (p.Pro3769Leu) c.7058C>T (p.Pro2353Leu) c.10286C>T (p.Pro3429Leu) | |
8 | g.99870819C>A | CA462339645 | VPS13B | c.*596C>A (n.*596C>A) n.11572C>A c.*7184C>A (n.*7184C>A) c.11427C>A (p.Pro3809=) c.11502C>A (p.Pro3834=) n.444C>A c.11499C>A (p.Pro3833=) c.11424C>A (p.Pro3808=) c.11124C>A (p.Pro3708=) c.8388C>A (p.Pro2796=) c.7281C>A (p.Pro2427=) c.11307C>A (p.Pro3769=) c.7059C>A (p.Pro2353=) c.10287C>A (p.Pro3429=) | gnomAD v4 |
8 | g.99870819C>G | CA462339646 | VPS13B | c.*596C>G (n.*596C>G) n.11572C>G c.*7184C>G (n.*7184C>G) c.11427C>G (p.Pro3809=) c.11502C>G (p.Pro3834=) n.444C>G c.11499C>G (p.Pro3833=) c.11424C>G (p.Pro3808=) c.11124C>G (p.Pro3708=) c.8388C>G (p.Pro2796=) c.7281C>G (p.Pro2427=) c.11307C>G (p.Pro3769=) c.7059C>G (p.Pro2353=) c.10287C>G (p.Pro3429=) | |
8 | g.99870819C>T | CA462339647 | VPS13B | c.*596C>T (n.*596C>T) n.11572C>T c.*7184C>T (n.*7184C>T) c.11427C>T (p.Pro3809=) c.11502C>T (p.Pro3834=) n.444C>T c.11499C>T (p.Pro3833=) c.11424C>T (p.Pro3808=) c.11124C>T (p.Pro3708=) c.8388C>T (p.Pro2796=) c.7281C>T (p.Pro2427=) c.11307C>T (p.Pro3769=) c.7059C>T (p.Pro2353=) c.10287C>T (p.Pro3429=) | dbSNP |
8 | g.99870821_99870824dup | CA915948829 | VPS13B | c.*598_*601dup (n.*598_*601dup) n.11574_11577dup c.*7186_*7189dup (n.*7186_*7189dup) c.11429_11432dup (p.Arg3812ThrfsTer7) c.11504_11507dup (p.Arg3837ThrfsTer7) n.446_449dup c.11501_11504dup (p.Arg3836ThrfsTer7) c.11426_11429dup (p.Arg3811ThrfsTer7) c.11126_11129dup (p.Arg3711ThrfsTer7) c.8390_8393dup (p.Arg2799ThrfsTer7) c.7283_7286dup (p.Arg2430ThrfsTer7) c.11309_11312dup (p.Arg3772ThrfsTer7) c.7061_7064dup (p.Arg2356ThrfsTer7) c.10289_10292dup (p.Arg3432ThrfsTer7) | ClinVar dbSNP |
8 | g.99870820A>C | CA371793608 | VPS13B | c.*597A>C (n.*597A>C) n.11573A>C c.*7185A>C (n.*7185A>C) c.11428A>C (p.Lys3810Gln) c.11503A>C (p.Lys3835Gln) n.445A>C c.11500A>C (p.Lys3834Gln) c.11425A>C (p.Lys3809Gln) c.11125A>C (p.Lys3709Gln) c.8389A>C (p.Lys2797Gln) c.7282A>C (p.Lys2428Gln) c.11308A>C (p.Lys3770Gln) c.7060A>C (p.Lys2354Gln) c.10288A>C (p.Lys3430Gln) | |
8 | g.99870820A>G | CA371793609 | VPS13B | c.*597A>G (n.*597A>G) n.11573A>G c.*7185A>G (n.*7185A>G) c.11428A>G (p.Lys3810Glu) c.11503A>G (p.Lys3835Glu) n.445A>G c.11500A>G (p.Lys3834Glu) c.11425A>G (p.Lys3809Glu) c.11125A>G (p.Lys3709Glu) c.8389A>G (p.Lys2797Glu) c.7282A>G (p.Lys2428Glu) c.11308A>G (p.Lys3770Glu) c.7060A>G (p.Lys2354Glu) c.10288A>G (p.Lys3430Glu) | dbSNP gnomAD v4 |
8 | g.99870820A>T | CA371793610 | VPS13B | c.*597A>T (n.*597A>T) n.11573A>T c.*7185A>T (n.*7185A>T) c.11428A>T (p.Lys3810Ter) c.11503A>T (p.Lys3835Ter) n.445A>T c.11500A>T (p.Lys3834Ter) c.11425A>T (p.Lys3809Ter) c.11125A>T (p.Lys3709Ter) c.8389A>T (p.Lys2797Ter) c.7282A>T (p.Lys2428Ter) c.11308A>T (p.Lys3770Ter) c.7060A>T (p.Lys2354Ter) c.10288A>T (p.Lys3430Ter) | |
8 | g.99870822del | CA264013 | VPS13B | c.*599del (n.*599del) n.11575del c.*7187del (n.*7187del) c.11430del (p.Lys3810AsnfsTer?) c.11505del (p.Lys3835AsnfsTer?) n.447del c.11502del (p.Lys3834AsnfsTer?) c.11427del (p.Lys3809AsnfsTer?) c.11127del (p.Lys3709AsnfsTer?) c.8391del (p.Lys2797AsnfsTer?) c.7284del (p.Lys2428AsnfsTer?) c.11310del (p.Lys3770AsnfsTer?) c.7062del (p.Lys2354AsnfsTer?) c.10290del (p.Lys3430AsnfsTer?) | ClinVar dbSNP |
8 | g.99870821A>C | CA371793611 | VPS13B | c.*598A>C (n.*598A>C) n.11574A>C c.*7186A>C (n.*7186A>C) c.11429A>C (p.Lys3810Thr) c.11504A>C (p.Lys3835Thr) n.446A>C c.11501A>C (p.Lys3834Thr) c.11426A>C (p.Lys3809Thr) c.11126A>C (p.Lys3709Thr) c.8390A>C (p.Lys2797Thr) c.7283A>C (p.Lys2428Thr) c.11309A>C (p.Lys3770Thr) c.7061A>C (p.Lys2354Thr) c.10289A>C (p.Lys3430Thr) | |
8 | g.99870821A>G | CA371793613 | VPS13B | c.*598A>G (n.*598A>G) n.11574A>G c.*7186A>G (n.*7186A>G) c.11429A>G (p.Lys3810Arg) c.11504A>G (p.Lys3835Arg) n.446A>G c.11501A>G (p.Lys3834Arg) c.11426A>G (p.Lys3809Arg) c.11126A>G (p.Lys3709Arg) c.8390A>G (p.Lys2797Arg) c.7283A>G (p.Lys2428Arg) c.11309A>G (p.Lys3770Arg) c.7061A>G (p.Lys2354Arg) c.10289A>G (p.Lys3430Arg) | gnomAD v4 |
8 | g.99870821A>T | CA371793612 | VPS13B | c.*598A>T (n.*598A>T) n.11574A>T c.*7186A>T (n.*7186A>T) c.11429A>T (p.Lys3810Ile) c.11504A>T (p.Lys3835Ile) n.446A>T c.11501A>T (p.Lys3834Ile) c.11426A>T (p.Lys3809Ile) c.11126A>T (p.Lys3709Ile) c.8390A>T (p.Lys2797Ile) c.7283A>T (p.Lys2428Ile) c.11309A>T (p.Lys3770Ile) c.7061A>T (p.Lys2354Ile) c.10289A>T (p.Lys3430Ile) | |
8 | g.99870822A>C | CA371793614 | VPS13B | c.*599A>C (n.*599A>C) n.11575A>C c.*7187A>C (n.*7187A>C) c.11430A>C (p.Lys3810Asn) c.11505A>C (p.Lys3835Asn) n.447A>C c.11502A>C (p.Lys3834Asn) c.11427A>C (p.Lys3809Asn) c.11127A>C (p.Lys3709Asn) c.8391A>C (p.Lys2797Asn) c.7284A>C (p.Lys2428Asn) c.11310A>C (p.Lys3770Asn) c.7062A>C (p.Lys2354Asn) c.10290A>C (p.Lys3430Asn) | |
8 | g.99870822A>G | CA462339652 | VPS13B | c.*599A>G (n.*599A>G) n.11575A>G c.*7187A>G (n.*7187A>G) c.11430A>G (p.Lys3810=) c.11505A>G (p.Lys3835=) n.447A>G c.11502A>G (p.Lys3834=) c.11427A>G (p.Lys3809=) c.11127A>G (p.Lys3709=) c.8391A>G (p.Lys2797=) c.7284A>G (p.Lys2428=) c.11310A>G (p.Lys3770=) c.7062A>G (p.Lys2354=) c.10290A>G (p.Lys3430=) | |
8 | g.99870822A>T | CA371793615 | VPS13B | c.*599A>T (n.*599A>T) n.11575A>T c.*7187A>T (n.*7187A>T) c.11430A>T (p.Lys3810Asn) c.11505A>T (p.Lys3835Asn) n.447A>T c.11502A>T (p.Lys3834Asn) c.11427A>T (p.Lys3809Asn) c.11127A>T (p.Lys3709Asn) c.8391A>T (p.Lys2797Asn) c.7284A>T (p.Lys2428Asn) c.11310A>T (p.Lys3770Asn) c.7062A>T (p.Lys2354Asn) c.10290A>T (p.Lys3430Asn) | gnomAD v4 |
8 | g.99870823C>A | CA371793616 | VPS13B | c.*600C>A (n.*600C>A) n.11576C>A c.*7188C>A (n.*7188C>A) c.11431C>A (p.Gln3811Lys) c.11506C>A (p.Gln3836Lys) n.448C>A c.11503C>A (p.Gln3835Lys) c.11428C>A (p.Gln3810Lys) c.11128C>A (p.Gln3710Lys) c.8392C>A (p.Gln2798Lys) c.7285C>A (p.Gln2429Lys) c.11311C>A (p.Gln3771Lys) c.7063C>A (p.Gln2355Lys) c.10291C>A (p.Gln3431Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99870823C>G | CA371793617 | VPS13B | c.*600C>G (n.*600C>G) n.11576C>G c.*7188C>G (n.*7188C>G) c.11431C>G (p.Gln3811Glu) c.11506C>G (p.Gln3836Glu) n.448C>G c.11503C>G (p.Gln3835Glu) c.11428C>G (p.Gln3810Glu) c.11128C>G (p.Gln3710Glu) c.8392C>G (p.Gln2798Glu) c.7285C>G (p.Gln2429Glu) c.11311C>G (p.Gln3771Glu) c.7063C>G (p.Gln2355Glu) c.10291C>G (p.Gln3431Glu) | |
8 | g.99870823C>T | CA371793618 | VPS13B | c.*600C>T (n.*600C>T) n.11576C>T c.*7188C>T (n.*7188C>T) c.11431C>T (p.Gln3811Ter) c.11506C>T (p.Gln3836Ter) n.448C>T c.11503C>T (p.Gln3835Ter) c.11428C>T (p.Gln3810Ter) c.11128C>T (p.Gln3710Ter) c.8392C>T (p.Gln2798Ter) c.7285C>T (p.Gln2429Ter) c.11311C>T (p.Gln3771Ter) c.7063C>T (p.Gln2355Ter) c.10291C>T (p.Gln3431Ter) | ClinVar gnomAD v4 |
8 | g.99870824A>C | CA371793619 | VPS13B | c.*601A>C (n.*601A>C) n.11577A>C c.*7189A>C (n.*7189A>C) c.11432A>C (p.Gln3811Pro) c.11507A>C (p.Gln3836Pro) n.449A>C c.11504A>C (p.Gln3835Pro) c.11429A>C (p.Gln3810Pro) c.11129A>C (p.Gln3710Pro) c.8393A>C (p.Gln2798Pro) c.7286A>C (p.Gln2429Pro) c.11312A>C (p.Gln3771Pro) c.7064A>C (p.Gln2355Pro) c.10292A>C (p.Gln3431Pro) | |
8 | g.99870824A>G | CA371793620 | VPS13B | c.*601A>G (n.*601A>G) n.11577A>G c.*7189A>G (n.*7189A>G) c.11432A>G (p.Gln3811Arg) c.11507A>G (p.Gln3836Arg) n.449A>G c.11504A>G (p.Gln3835Arg) c.11429A>G (p.Gln3810Arg) c.11129A>G (p.Gln3710Arg) c.8393A>G (p.Gln2798Arg) c.7286A>G (p.Gln2429Arg) c.11312A>G (p.Gln3771Arg) c.7064A>G (p.Gln2355Arg) c.10292A>G (p.Gln3431Arg) | |
8 | g.99870824A>T | CA371793621 | VPS13B | c.*601A>T (n.*601A>T) n.11577A>T c.*7189A>T (n.*7189A>T) c.11432A>T (p.Gln3811Leu) c.11507A>T (p.Gln3836Leu) n.449A>T c.11504A>T (p.Gln3835Leu) c.11429A>T (p.Gln3810Leu) c.11129A>T (p.Gln3710Leu) c.8393A>T (p.Gln2798Leu) c.7286A>T (p.Gln2429Leu) c.11312A>T (p.Gln3771Leu) c.7064A>T (p.Gln2355Leu) c.10292A>T (p.Gln3431Leu) | |
8 | g.99870825G>A | CA462339657 | VPS13B | c.*602G>A (n.*602G>A) n.11578G>A c.*7190G>A (n.*7190G>A) c.11433G>A (p.Gln3811=) c.11508G>A (p.Gln3836=) n.450G>A c.11505G>A (p.Gln3835=) c.11430G>A (p.Gln3810=) c.11130G>A (p.Gln3710=) c.8394G>A (p.Gln2798=) c.7287G>A (p.Gln2429=) c.11313G>A (p.Gln3771=) c.7065G>A (p.Gln2355=) c.10293G>A (p.Gln3431=) | ClinVar dbSNP |
8 | g.99870825G>C | CA371793622 | VPS13B | c.*602G>C (n.*602G>C) n.11578G>C c.*7190G>C (n.*7190G>C) c.11433G>C (p.Gln3811His) c.11508G>C (p.Gln3836His) n.450G>C c.11505G>C (p.Gln3835His) c.11430G>C (p.Gln3810His) c.11130G>C (p.Gln3710His) c.8394G>C (p.Gln2798His) c.7287G>C (p.Gln2429His) c.11313G>C (p.Gln3771His) c.7065G>C (p.Gln2355His) c.10293G>C (p.Gln3431His) | |
8 | g.99870825G>T | CA371793623 | VPS13B | c.*602G>T (n.*602G>T) n.11578G>T c.*7190G>T (n.*7190G>T) c.11433G>T (p.Gln3811His) c.11508G>T (p.Gln3836His) n.450G>T c.11505G>T (p.Gln3835His) c.11430G>T (p.Gln3810His) c.11130G>T (p.Gln3710His) c.8394G>T (p.Gln2798His) c.7287G>T (p.Gln2429His) c.11313G>T (p.Gln3771His) c.7065G>T (p.Gln2355His) c.10293G>T (p.Gln3431His) | |
8 | g.99870826C>A | CA371793624 | VPS13B | c.*603C>A (n.*603C>A) n.11579C>A c.*7191C>A (n.*7191C>A) c.11434C>A (p.Arg3812Ser) c.11509C>A (p.Arg3837Ser) n.451C>A c.11506C>A (p.Arg3836Ser) c.11431C>A (p.Arg3811Ser) c.11131C>A (p.Arg3711Ser) c.8395C>A (p.Arg2799Ser) c.7288C>A (p.Arg2430Ser) c.11314C>A (p.Arg3772Ser) c.7066C>A (p.Arg2356Ser) c.10294C>A (p.Arg3432Ser) | |
8 | g.99870826C>G | CA371793625 | VPS13B | c.*603C>G (n.*603C>G) n.11579C>G c.*7191C>G (n.*7191C>G) c.11434C>G (p.Arg3812Gly) c.11509C>G (p.Arg3837Gly) n.451C>G c.11506C>G (p.Arg3836Gly) c.11431C>G (p.Arg3811Gly) c.11131C>G (p.Arg3711Gly) c.8395C>G (p.Arg2799Gly) c.7288C>G (p.Arg2430Gly) c.11314C>G (p.Arg3772Gly) c.7066C>G (p.Arg2356Gly) c.10294C>G (p.Arg3432Gly) | |
8 | g.99870826C>T | CA4825240 | VPS13B | c.*603C>T (n.*603C>T) n.11579C>T c.*7191C>T (n.*7191C>T) c.11434C>T (p.Arg3812Cys) c.11509C>T (p.Arg3837Cys) n.451C>T c.11506C>T (p.Arg3836Cys) c.11431C>T (p.Arg3811Cys) c.11131C>T (p.Arg3711Cys) c.8395C>T (p.Arg2799Cys) c.7288C>T (p.Arg2430Cys) c.11314C>T (p.Arg3772Cys) c.7066C>T (p.Arg2356Cys) c.10294C>T (p.Arg3432Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.99870827G>A | CA4825241 | VPS13B | c.*604G>A (n.*604G>A) n.11580G>A c.*7192G>A (n.*7192G>A) c.11435G>A (p.Arg3812His) c.11510G>A (p.Arg3837His) n.452G>A c.11507G>A (p.Arg3836His) c.11432G>A (p.Arg3811His) c.11132G>A (p.Arg3711His) c.8396G>A (p.Arg2799His) c.7289G>A (p.Arg2430His) c.11315G>A (p.Arg3772His) c.7067G>A (p.Arg2356His) c.10295G>A (p.Arg3432His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870827G>C | CA371793626 | VPS13B | c.*604G>C (n.*604G>C) n.11580G>C c.*7192G>C (n.*7192G>C) c.11435G>C (p.Arg3812Pro) c.11510G>C (p.Arg3837Pro) n.452G>C c.11507G>C (p.Arg3836Pro) c.11432G>C (p.Arg3811Pro) c.11132G>C (p.Arg3711Pro) c.8396G>C (p.Arg2799Pro) c.7289G>C (p.Arg2430Pro) c.11315G>C (p.Arg3772Pro) c.7067G>C (p.Arg2356Pro) c.10295G>C (p.Arg3432Pro) | |
8 | g.99870827G>T | CA371793627 | VPS13B | c.*604G>T (n.*604G>T) n.11580G>T c.*7192G>T (n.*7192G>T) c.11435G>T (p.Arg3812Leu) c.11510G>T (p.Arg3837Leu) n.452G>T c.11507G>T (p.Arg3836Leu) c.11432G>T (p.Arg3811Leu) c.11132G>T (p.Arg3711Leu) c.8396G>T (p.Arg2799Leu) c.7289G>T (p.Arg2430Leu) c.11315G>T (p.Arg3772Leu) c.7067G>T (p.Arg2356Leu) c.10295G>T (p.Arg3432Leu) | |
8 | g.99870828C>A | CA462339661 | VPS13B | c.*605C>A (n.*605C>A) n.11581C>A c.*7193C>A (n.*7193C>A) c.11436C>A (p.Arg3812=) c.11511C>A (p.Arg3837=) n.453C>A c.11508C>A (p.Arg3836=) c.11433C>A (p.Arg3811=) c.11133C>A (p.Arg3711=) c.8397C>A (p.Arg2799=) c.7290C>A (p.Arg2430=) c.11316C>A (p.Arg3772=) c.7068C>A (p.Arg2356=) c.10296C>A (p.Arg3432=) | ClinVar gnomAD v4 |
8 | g.99870828C>G | CA462339662 | VPS13B | c.*605C>G (n.*605C>G) n.11581C>G c.*7193C>G (n.*7193C>G) c.11436C>G (p.Arg3812=) c.11511C>G (p.Arg3837=) n.453C>G c.11508C>G (p.Arg3836=) c.11433C>G (p.Arg3811=) c.11133C>G (p.Arg3711=) c.8397C>G (p.Arg2799=) c.7290C>G (p.Arg2430=) c.11316C>G (p.Arg3772=) c.7068C>G (p.Arg2356=) c.10296C>G (p.Arg3432=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99870828C>T | CA4825242 | VPS13B | c.*605C>T (n.*605C>T) n.11581C>T c.*7193C>T (n.*7193C>T) c.11436C>T (p.Arg3812=) c.11511C>T (p.Arg3837=) n.453C>T c.11508C>T (p.Arg3836=) c.11433C>T (p.Arg3811=) c.11133C>T (p.Arg3711=) c.8397C>T (p.Arg2799=) c.7290C>T (p.Arg2430=) c.11316C>T (p.Arg3772=) c.7068C>T (p.Arg2356=) c.10296C>T (p.Arg3432=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99870829C>A | CA371793628 | VPS13B | c.*606C>A (n.*606C>A) n.11582C>A c.*7194C>A (n.*7194C>A) c.11437C>A (p.His3813Asn) c.11512C>A (p.His3838Asn) n.454C>A c.11509C>A (p.His3837Asn) c.11434C>A (p.His3812Asn) c.11134C>A (p.His3712Asn) c.8398C>A (p.His2800Asn) c.7291C>A (p.His2431Asn) c.11317C>A (p.His3773Asn) c.7069C>A (p.His2357Asn) c.10297C>A (p.His3433Asn) | |
8 | g.99870829C>G | CA371793629 | VPS13B | c.*606C>G (n.*606C>G) n.11582C>G c.*7194C>G (n.*7194C>G) c.11437C>G (p.His3813Asp) c.11512C>G (p.His3838Asp) n.454C>G c.11509C>G (p.His3837Asp) c.11434C>G (p.His3812Asp) c.11134C>G (p.His3712Asp) c.8398C>G (p.His2800Asp) c.7291C>G (p.His2431Asp) c.11317C>G (p.His3773Asp) c.7069C>G (p.His2357Asp) c.10297C>G (p.His3433Asp) | |
8 | g.99870829C>T | CA371793630 | VPS13B | c.*606C>T (n.*606C>T) n.11582C>T c.*7194C>T (n.*7194C>T) c.11437C>T (p.His3813Tyr) c.11512C>T (p.His3838Tyr) n.454C>T c.11509C>T (p.His3837Tyr) c.11434C>T (p.His3812Tyr) c.11134C>T (p.His3712Tyr) c.8398C>T (p.His2800Tyr) c.7291C>T (p.His2431Tyr) c.11317C>T (p.His3773Tyr) c.7069C>T (p.His2357Tyr) c.10297C>T (p.His3433Tyr) | ClinVar gnomAD v4 |
8 | g.99870831_99870833dup | CA2497231714 | VPS13B | c.*608_*610dup (n.*608_*610dup) n.11584_11586dup c.*7196_*7198dup (n.*7196_*7198dup) c.11439_11441dup (p.His3813_Gln3814insHis) c.11514_11516dup (p.His3838_Gln3839insHis) n.456_458dup c.11511_11513dup (p.His3837_Gln3838insHis) c.11436_11438dup (p.His3812_Gln3813insHis) c.11136_11138dup (p.His3712_Gln3713insHis) c.8400_8402dup (p.His2800_Gln2801insHis) c.7293_7295dup (p.His2431_Gln2432insHis) c.11319_11321dup (p.His3773_Gln3774insHis) c.7071_7073dup (p.His2357_Gln2358insHis) c.10299_10301dup (p.His3433_Gln3434insHis) | dbSNP |
8 | g.99870830A>C | CA371793631 | VPS13B | c.*607A>C (n.*607A>C) n.11583A>C c.*7195A>C (n.*7195A>C) c.11438A>C (p.His3813Pro) c.11513A>C (p.His3838Pro) n.455A>C c.11510A>C (p.His3837Pro) c.11435A>C (p.His3812Pro) c.11135A>C (p.His3712Pro) c.8399A>C (p.His2800Pro) c.7292A>C (p.His2431Pro) c.11318A>C (p.His3773Pro) c.7070A>C (p.His2357Pro) c.10298A>C (p.His3433Pro) | |
8 | g.99870830A>G | CA246867 | VPS13B | c.*607A>G (n.*607A>G) n.11583A>G c.*7195A>G (n.*7195A>G) c.11438A>G (p.His3813Arg) c.11513A>G (p.His3838Arg) n.455A>G c.11510A>G (p.His3837Arg) c.11435A>G (p.His3812Arg) c.11135A>G (p.His3712Arg) c.8399A>G (p.His2800Arg) c.7292A>G (p.His2431Arg) c.11318A>G (p.His3773Arg) c.7070A>G (p.His2357Arg) c.10298A>G (p.His3433Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870830A>T | CA371793632 | VPS13B | c.*607A>T (n.*607A>T) n.11583A>T c.*7195A>T (n.*7195A>T) c.11438A>T (p.His3813Leu) c.11513A>T (p.His3838Leu) n.455A>T c.11510A>T (p.His3837Leu) c.11435A>T (p.His3812Leu) c.11135A>T (p.His3712Leu) c.8399A>T (p.His2800Leu) c.7292A>T (p.His2431Leu) c.11318A>T (p.His3773Leu) c.7070A>T (p.His2357Leu) c.10298A>T (p.His3433Leu) | |
8 | g.99870830_99870842del | CA2573143504 | VPS13B | c.*607_*619del (n.*607_*619del) n.11583_11595del c.*7195_*7207del (n.*7195_*7207del) c.11438_11450del (p.His3813LeufsTer?) c.11513_11525del (p.His3838LeufsTer?) n.455_467del c.11510_11522del (p.His3837LeufsTer?) c.11435_11447del (p.His3812LeufsTer?) c.11135_11147del (p.His3712LeufsTer?) c.8399_8411del (p.His2800LeufsTer?) c.7292_7304del (p.His2431LeufsTer?) c.11318_11330del (p.His3773LeufsTer?) c.7070_7082del (p.His2357LeufsTer?) c.10298_10310del (p.His3433LeufsTer?) | ClinVar dbSNP |
8 | g.99870831del | CA2718045790 | VPS13B | c.*608del (n.*608del) n.11584del c.*7196del (n.*7196del) c.11439del (p.Gln3814SerfsTer?) c.11514del (p.Gln3839SerfsTer?) n.456del c.11511del (p.Gln3838SerfsTer?) c.11436del (p.Gln3813SerfsTer?) c.11136del (p.Gln3713SerfsTer?) c.8400del (p.Gln2801SerfsTer?) c.7293del (p.Gln2432SerfsTer?) c.11319del (p.Gln3774SerfsTer?) c.7071del (p.Gln2358SerfsTer?) c.10299del (p.Gln3434SerfsTer?) | dbSNP |
8 | g.99870831T>A | CA371793633 | VPS13B | c.*608T>A (n.*608T>A) n.11584T>A c.*7196T>A (n.*7196T>A) c.11439T>A (p.His3813Gln) c.11514T>A (p.His3838Gln) n.456T>A c.11511T>A (p.His3837Gln) c.11436T>A (p.His3812Gln) c.11136T>A (p.His3712Gln) c.8400T>A (p.His2800Gln) c.7293T>A (p.His2431Gln) c.11319T>A (p.His3773Gln) c.7071T>A (p.His2357Gln) c.10299T>A (p.His3433Gln) | |
8 | g.99870831T>C | CA462339670 | VPS13B | c.*608T>C (n.*608T>C) n.11584T>C c.*7196T>C (n.*7196T>C) c.11439T>C (p.His3813=) c.11514T>C (p.His3838=) n.456T>C c.11511T>C (p.His3837=) c.11436T>C (p.His3812=) c.11136T>C (p.His3712=) c.8400T>C (p.His2800=) c.7293T>C (p.His2431=) c.11319T>C (p.His3773=) c.7071T>C (p.His2357=) c.10299T>C (p.His3433=) | |
8 | g.99870831T>G | CA371793634 | VPS13B | c.*608T>G (n.*608T>G) n.11584T>G c.*7196T>G (n.*7196T>G) c.11439T>G (p.His3813Gln) c.11514T>G (p.His3838Gln) n.456T>G c.11511T>G (p.His3837Gln) c.11436T>G (p.His3812Gln) c.11136T>G (p.His3712Gln) c.8400T>G (p.His2800Gln) c.7293T>G (p.His2431Gln) c.11319T>G (p.His3773Gln) c.7071T>G (p.His2357Gln) c.10299T>G (p.His3433Gln) | |
8 | g.99870832C>A | CA371793637 | VPS13B | c.*609C>A (n.*609C>A) n.11585C>A c.*7197C>A (n.*7197C>A) c.11440C>A (p.Gln3814Lys) c.11515C>A (p.Gln3839Lys) n.457C>A c.11512C>A (p.Gln3838Lys) c.11437C>A (p.Gln3813Lys) c.11137C>A (p.Gln3713Lys) c.8401C>A (p.Gln2801Lys) c.7294C>A (p.Gln2432Lys) c.11320C>A (p.Gln3774Lys) c.7072C>A (p.Gln2358Lys) c.10300C>A (p.Gln3434Lys) | |
8 | g.99870832C>G | CA371793635 | VPS13B | c.*609C>G (n.*609C>G) n.11585C>G c.*7197C>G (n.*7197C>G) c.11440C>G (p.Gln3814Glu) c.11515C>G (p.Gln3839Glu) n.457C>G c.11512C>G (p.Gln3838Glu) c.11437C>G (p.Gln3813Glu) c.11137C>G (p.Gln3713Glu) c.8401C>G (p.Gln2801Glu) c.7294C>G (p.Gln2432Glu) c.11320C>G (p.Gln3774Glu) c.7072C>G (p.Gln2358Glu) c.10300C>G (p.Gln3434Glu) | |
8 | g.99870832C>T | CA371793636 | VPS13B | c.*609C>T (n.*609C>T) n.11585C>T c.*7197C>T (n.*7197C>T) c.11440C>T (p.Gln3814Ter) c.11515C>T (p.Gln3839Ter) n.457C>T c.11512C>T (p.Gln3838Ter) c.11437C>T (p.Gln3813Ter) c.11137C>T (p.Gln3713Ter) c.8401C>T (p.Gln2801Ter) c.7294C>T (p.Gln2432Ter) c.11320C>T (p.Gln3774Ter) c.7072C>T (p.Gln2358Ter) c.10300C>T (p.Gln3434Ter) | gnomAD v4 |
8 | g.99870833A>C | CA371793638 | VPS13B | c.*610A>C (n.*610A>C) n.11586A>C c.*7198A>C (n.*7198A>C) c.11441A>C (p.Gln3814Pro) c.11516A>C (p.Gln3839Pro) n.458A>C c.11513A>C (p.Gln3838Pro) c.11438A>C (p.Gln3813Pro) c.11138A>C (p.Gln3713Pro) c.8402A>C (p.Gln2801Pro) c.7295A>C (p.Gln2432Pro) c.11321A>C (p.Gln3774Pro) c.7073A>C (p.Gln2358Pro) c.10301A>C (p.Gln3434Pro) | |
8 | g.99870833A>G | CA371793639 | VPS13B | c.*610A>G (n.*610A>G) n.11586A>G c.*7198A>G (n.*7198A>G) c.11441A>G (p.Gln3814Arg) c.11516A>G (p.Gln3839Arg) n.458A>G c.11513A>G (p.Gln3838Arg) c.11438A>G (p.Gln3813Arg) c.11138A>G (p.Gln3713Arg) c.8402A>G (p.Gln2801Arg) c.7295A>G (p.Gln2432Arg) c.11321A>G (p.Gln3774Arg) c.7073A>G (p.Gln2358Arg) c.10301A>G (p.Gln3434Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99870833A>T | CA371793640 | VPS13B | c.*610A>T (n.*610A>T) n.11586A>T c.*7198A>T (n.*7198A>T) c.11441A>T (p.Gln3814Leu) c.11516A>T (p.Gln3839Leu) n.458A>T c.11513A>T (p.Gln3838Leu) c.11438A>T (p.Gln3813Leu) c.11138A>T (p.Gln3713Leu) c.8402A>T (p.Gln2801Leu) c.7295A>T (p.Gln2432Leu) c.11321A>T (p.Gln3774Leu) c.7073A>T (p.Gln2358Leu) c.10301A>T (p.Gln3434Leu) | |
8 | g.99870834G>A | CA462339675 | VPS13B | c.*611G>A (n.*611G>A) n.11587G>A c.*7199G>A (n.*7199G>A) c.11442G>A (p.Gln3814=) c.11517G>A (p.Gln3839=) n.459G>A c.11514G>A (p.Gln3838=) c.11439G>A (p.Gln3813=) c.11139G>A (p.Gln3713=) c.8403G>A (p.Gln2801=) c.7296G>A (p.Gln2432=) c.11322G>A (p.Gln3774=) c.7074G>A (p.Gln2358=) c.10302G>A (p.Gln3434=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870834G>C | CA371793641 | VPS13B | c.*611G>C (n.*611G>C) n.11587G>C c.*7199G>C (n.*7199G>C) c.11442G>C (p.Gln3814His) c.11517G>C (p.Gln3839His) n.459G>C c.11514G>C (p.Gln3838His) c.11439G>C (p.Gln3813His) c.11139G>C (p.Gln3713His) c.8403G>C (p.Gln2801His) c.7296G>C (p.Gln2432His) c.11322G>C (p.Gln3774His) c.7074G>C (p.Gln2358His) c.10302G>C (p.Gln3434His) | |
8 | g.99870834G>T | CA371793642 | VPS13B | c.*611G>T (n.*611G>T) n.11587G>T c.*7199G>T (n.*7199G>T) c.11442G>T (p.Gln3814His) c.11517G>T (p.Gln3839His) n.459G>T c.11514G>T (p.Gln3838His) c.11439G>T (p.Gln3813His) c.11139G>T (p.Gln3713His) c.8403G>T (p.Gln2801His) c.7296G>T (p.Gln2432His) c.11322G>T (p.Gln3774His) c.7074G>T (p.Gln2358His) c.10302G>T (p.Gln3434His) | |
8 | g.99870835C>A | CA371793643 | VPS13B | c.*612C>A (n.*612C>A) n.11588C>A c.*7200C>A (n.*7200C>A) c.11443C>A (p.Pro3815Thr) c.11518C>A (p.Pro3840Thr) n.460C>A c.11515C>A (p.Pro3839Thr) c.11440C>A (p.Pro3814Thr) c.11140C>A (p.Pro3714Thr) c.8404C>A (p.Pro2802Thr) c.7297C>A (p.Pro2433Thr) c.11323C>A (p.Pro3775Thr) c.7075C>A (p.Pro2359Thr) c.10303C>A (p.Pro3435Thr) | |
8 | g.99870835C>G | CA371793644 | VPS13B | c.*612C>G (n.*612C>G) n.11588C>G c.*7200C>G (n.*7200C>G) c.11443C>G (p.Pro3815Ala) c.11518C>G (p.Pro3840Ala) n.460C>G c.11515C>G (p.Pro3839Ala) c.11440C>G (p.Pro3814Ala) c.11140C>G (p.Pro3714Ala) c.8404C>G (p.Pro2802Ala) c.7297C>G (p.Pro2433Ala) c.11323C>G (p.Pro3775Ala) c.7075C>G (p.Pro2359Ala) c.10303C>G (p.Pro3435Ala) | |
8 | g.99870835C>T | CA371793645 | VPS13B | c.*612C>T (n.*612C>T) n.11588C>T c.*7200C>T (n.*7200C>T) c.11443C>T (p.Pro3815Ser) c.11518C>T (p.Pro3840Ser) n.460C>T c.11515C>T (p.Pro3839Ser) c.11440C>T (p.Pro3814Ser) c.11140C>T (p.Pro3714Ser) c.8404C>T (p.Pro2802Ser) c.7297C>T (p.Pro2433Ser) c.11323C>T (p.Pro3775Ser) c.7075C>T (p.Pro2359Ser) c.10303C>T (p.Pro3435Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99870836C>A | CA371793646 | VPS13B | c.*613C>A (n.*613C>A) n.11589C>A c.*7201C>A (n.*7201C>A) c.11444C>A (p.Pro3815Gln) c.11519C>A (p.Pro3840Gln) n.461C>A c.11516C>A (p.Pro3839Gln) c.11441C>A (p.Pro3814Gln) c.11141C>A (p.Pro3714Gln) c.8405C>A (p.Pro2802Gln) c.7298C>A (p.Pro2433Gln) c.11324C>A (p.Pro3775Gln) c.7076C>A (p.Pro2359Gln) c.10304C>A (p.Pro3435Gln) | |
8 | g.99870836C>G | CA371793647 | VPS13B | c.*613C>G (n.*613C>G) n.11589C>G c.*7201C>G (n.*7201C>G) c.11444C>G (p.Pro3815Arg) c.11519C>G (p.Pro3840Arg) n.461C>G c.11516C>G (p.Pro3839Arg) c.11441C>G (p.Pro3814Arg) c.11141C>G (p.Pro3714Arg) c.8405C>G (p.Pro2802Arg) c.7298C>G (p.Pro2433Arg) c.11324C>G (p.Pro3775Arg) c.7076C>G (p.Pro2359Arg) c.10304C>G (p.Pro3435Arg) | |
8 | g.99870836C>T | CA371793648 | VPS13B | c.*613C>T (n.*613C>T) n.11589C>T c.*7201C>T (n.*7201C>T) c.11444C>T (p.Pro3815Leu) c.11519C>T (p.Pro3840Leu) n.461C>T c.11516C>T (p.Pro3839Leu) c.11441C>T (p.Pro3814Leu) c.11141C>T (p.Pro3714Leu) c.8405C>T (p.Pro2802Leu) c.7298C>T (p.Pro2433Leu) c.11324C>T (p.Pro3775Leu) c.7076C>T (p.Pro2359Leu) c.10304C>T (p.Pro3435Leu) | |
8 | g.99870836_99870838delinsT | CA2695209941 | VPS13B | c.*613_*615delinsT (n.*613_*615delinsT) n.11589_11591delinsT c.*7201_*7203delinsT (n.*7201_*7203delinsT) c.11444_11446delinsT (p.Pro3815LeufsTer2) c.11519_11521delinsT (p.Pro3840LeufsTer2) n.461_463delinsT c.11516_11518delinsT (p.Pro3839LeufsTer2) c.11441_11443delinsT (p.Pro3814LeufsTer2) c.11141_11143delinsT (p.Pro3714LeufsTer2) c.8405_8407delinsT (p.Pro2802LeufsTer2) c.7298_7300delinsT (p.Pro2433LeufsTer2) c.11324_11326delinsT (p.Pro3775LeufsTer2) c.7076_7078delinsT (p.Pro2359LeufsTer2) c.10304_10306delinsT (p.Pro3435LeufsTer2) | |
8 | g.99870837A>C | CA462339677 | VPS13B | c.*614A>C (n.*614A>C) n.11590A>C c.*7202A>C (n.*7202A>C) c.11445A>C (p.Pro3815=) c.11520A>C (p.Pro3840=) n.462A>C c.11517A>C (p.Pro3839=) c.11442A>C (p.Pro3814=) c.11142A>C (p.Pro3714=) c.8406A>C (p.Pro2802=) c.7299A>C (p.Pro2433=) c.11325A>C (p.Pro3775=) c.7077A>C (p.Pro2359=) c.10305A>C (p.Pro3435=) | |
8 | g.99870837A>G | CA462339678 | VPS13B | c.*614A>G (n.*614A>G) n.11590A>G c.*7202A>G (n.*7202A>G) c.11445A>G (p.Pro3815=) c.11520A>G (p.Pro3840=) n.462A>G c.11517A>G (p.Pro3839=) c.11442A>G (p.Pro3814=) c.11142A>G (p.Pro3714=) c.8406A>G (p.Pro2802=) c.7299A>G (p.Pro2433=) c.11325A>G (p.Pro3775=) c.7077A>G (p.Pro2359=) c.10305A>G (p.Pro3435=) | |
8 | g.99870837A>T | CA462339679 | VPS13B | c.*614A>T (n.*614A>T) n.11590A>T c.*7202A>T (n.*7202A>T) c.11445A>T (p.Pro3815=) c.11520A>T (p.Pro3840=) n.462A>T c.11517A>T (p.Pro3839=) c.11442A>T (p.Pro3814=) c.11142A>T (p.Pro3714=) c.8406A>T (p.Pro2802=) c.7299A>T (p.Pro2433=) c.11325A>T (p.Pro3775=) c.7077A>T (p.Pro2359=) c.10305A>T (p.Pro3435=) | |
8 | g.99870838A>C | CA371793650 | VPS13B | c.*615A>C (n.*615A>C) n.11591A>C c.*7203A>C (n.*7203A>C) c.11446A>C (p.Ser3816Arg) c.11521A>C (p.Ser3841Arg) n.463A>C c.11518A>C (p.Ser3840Arg) c.11443A>C (p.Ser3815Arg) c.11143A>C (p.Ser3715Arg) c.8407A>C (p.Ser2803Arg) c.7300A>C (p.Ser2434Arg) c.11326A>C (p.Ser3776Arg) c.7078A>C (p.Ser2360Arg) c.10306A>C (p.Ser3436Arg) | gnomAD v4 |
8 | g.99870838A>G | CA371793651 | VPS13B | c.*615A>G (n.*615A>G) n.11591A>G c.*7203A>G (n.*7203A>G) c.11446A>G (p.Ser3816Gly) c.11521A>G (p.Ser3841Gly) n.463A>G c.11518A>G (p.Ser3840Gly) c.11443A>G (p.Ser3815Gly) c.11143A>G (p.Ser3715Gly) c.8407A>G (p.Ser2803Gly) c.7300A>G (p.Ser2434Gly) c.11326A>G (p.Ser3776Gly) c.7078A>G (p.Ser2360Gly) c.10306A>G (p.Ser3436Gly) | |
8 | g.99870838A>T | CA371793649 | VPS13B | c.*615A>T (n.*615A>T) n.11591A>T c.*7203A>T (n.*7203A>T) c.11446A>T (p.Ser3816Cys) c.11521A>T (p.Ser3841Cys) n.463A>T c.11518A>T (p.Ser3840Cys) c.11443A>T (p.Ser3815Cys) c.11143A>T (p.Ser3715Cys) c.8407A>T (p.Ser2803Cys) c.7300A>T (p.Ser2434Cys) c.11326A>T (p.Ser3776Cys) c.7078A>T (p.Ser2360Cys) c.10306A>T (p.Ser3436Cys) | |
8 | g.99870839G>A | CA371793652 | VPS13B | c.*616G>A (n.*616G>A) n.11592G>A c.*7204G>A (n.*7204G>A) c.11447G>A (p.Ser3816Asn) c.11522G>A (p.Ser3841Asn) n.464G>A c.11519G>A (p.Ser3840Asn) c.11444G>A (p.Ser3815Asn) c.11144G>A (p.Ser3715Asn) c.8408G>A (p.Ser2803Asn) c.7301G>A (p.Ser2434Asn) c.11327G>A (p.Ser3776Asn) c.7079G>A (p.Ser2360Asn) c.10307G>A (p.Ser3436Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870839G>C | CA371793653 | VPS13B | c.*616G>C (n.*616G>C) n.11592G>C c.*7204G>C (n.*7204G>C) c.11447G>C (p.Ser3816Thr) c.11522G>C (p.Ser3841Thr) n.464G>C c.11519G>C (p.Ser3840Thr) c.11444G>C (p.Ser3815Thr) c.11144G>C (p.Ser3715Thr) c.8408G>C (p.Ser2803Thr) c.7301G>C (p.Ser2434Thr) c.11327G>C (p.Ser3776Thr) c.7079G>C (p.Ser2360Thr) c.10307G>C (p.Ser3436Thr) | |
8 | g.99870839G>T | CA371793654 | VPS13B | c.*616G>T (n.*616G>T) n.11592G>T c.*7204G>T (n.*7204G>T) c.11447G>T (p.Ser3816Ile) c.11522G>T (p.Ser3841Ile) n.464G>T c.11519G>T (p.Ser3840Ile) c.11444G>T (p.Ser3815Ile) c.11144G>T (p.Ser3715Ile) c.8408G>T (p.Ser2803Ile) c.7301G>T (p.Ser2434Ile) c.11327G>T (p.Ser3776Ile) c.7079G>T (p.Ser2360Ile) c.10307G>T (p.Ser3436Ile) | |
8 | g.99870840T>A | CA371793655 | VPS13B | c.*617T>A (n.*617T>A) n.11593T>A c.*7205T>A (n.*7205T>A) c.11448T>A (p.Ser3816Arg) c.11523T>A (p.Ser3841Arg) n.465T>A c.11520T>A (p.Ser3840Arg) c.11445T>A (p.Ser3815Arg) c.11145T>A (p.Ser3715Arg) c.8409T>A (p.Ser2803Arg) c.7302T>A (p.Ser2434Arg) c.11328T>A (p.Ser3776Arg) c.7080T>A (p.Ser2360Arg) c.10308T>A (p.Ser3436Arg) | |
8 | g.99870840T>C | CA462339684 | VPS13B | c.*617T>C (n.*617T>C) n.11593T>C c.*7205T>C (n.*7205T>C) c.11448T>C (p.Ser3816=) c.11523T>C (p.Ser3841=) n.465T>C c.11520T>C (p.Ser3840=) c.11445T>C (p.Ser3815=) c.11145T>C (p.Ser3715=) c.8409T>C (p.Ser2803=) c.7302T>C (p.Ser2434=) c.11328T>C (p.Ser3776=) c.7080T>C (p.Ser2360=) c.10308T>C (p.Ser3436=) | |
8 | g.99870840T>G | CA371793656 | VPS13B | c.*617T>G (n.*617T>G) n.11593T>G c.*7205T>G (n.*7205T>G) c.11448T>G (p.Ser3816Arg) c.11523T>G (p.Ser3841Arg) n.465T>G c.11520T>G (p.Ser3840Arg) c.11445T>G (p.Ser3815Arg) c.11145T>G (p.Ser3715Arg) c.8409T>G (p.Ser2803Arg) c.7302T>G (p.Ser2434Arg) c.11328T>G (p.Ser3776Arg) c.7080T>G (p.Ser2360Arg) c.10308T>G (p.Ser3436Arg) | |
8 | g.99870841G>A | CA371793659 | VPS13B | c.*618G>A (n.*618G>A) n.11594G>A c.*7206G>A (n.*7206G>A) c.11449G>A (p.Asp3817Asn) c.11524G>A (p.Asp3842Asn) n.466G>A c.11521G>A (p.Asp3841Asn) c.11446G>A (p.Asp3816Asn) c.11146G>A (p.Asp3716Asn) c.8410G>A (p.Asp2804Asn) c.7303G>A (p.Asp2435Asn) c.11329G>A (p.Asp3777Asn) c.7081G>A (p.Asp2361Asn) c.10309G>A (p.Asp3437Asn) | |
8 | g.99870841G>C | CA371793658 | VPS13B | c.*618G>C (n.*618G>C) n.11594G>C c.*7206G>C (n.*7206G>C) c.11449G>C (p.Asp3817His) c.11524G>C (p.Asp3842His) n.466G>C c.11521G>C (p.Asp3841His) c.11446G>C (p.Asp3816His) c.11146G>C (p.Asp3716His) c.8410G>C (p.Asp2804His) c.7303G>C (p.Asp2435His) c.11329G>C (p.Asp3777His) c.7081G>C (p.Asp2361His) c.10309G>C (p.Asp3437His) | |
8 | g.99870841G>T | CA371793657 | VPS13B | c.*618G>T (n.*618G>T) n.11594G>T c.*7206G>T (n.*7206G>T) c.11449G>T (p.Asp3817Tyr) c.11524G>T (p.Asp3842Tyr) n.466G>T c.11521G>T (p.Asp3841Tyr) c.11446G>T (p.Asp3816Tyr) c.11146G>T (p.Asp3716Tyr) c.8410G>T (p.Asp2804Tyr) c.7303G>T (p.Asp2435Tyr) c.11329G>T (p.Asp3777Tyr) c.7081G>T (p.Asp2361Tyr) c.10309G>T (p.Asp3437Tyr) | |
8 | g.99870842A>C | CA371793660 | VPS13B | c.*619A>C (n.*619A>C) n.11595A>C c.*7207A>C (n.*7207A>C) c.11450A>C (p.Asp3817Ala) c.11525A>C (p.Asp3842Ala) n.467A>C c.11522A>C (p.Asp3841Ala) c.11447A>C (p.Asp3816Ala) c.11147A>C (p.Asp3716Ala) c.8411A>C (p.Asp2804Ala) c.7304A>C (p.Asp2435Ala) c.11330A>C (p.Asp3777Ala) c.7082A>C (p.Asp2361Ala) c.10310A>C (p.Asp3437Ala) | |
8 | g.99870842A>G | CA371793661 | VPS13B | c.*619A>G (n.*619A>G) n.11595A>G c.*7207A>G (n.*7207A>G) c.11450A>G (p.Asp3817Gly) c.11525A>G (p.Asp3842Gly) n.467A>G c.11522A>G (p.Asp3841Gly) c.11447A>G (p.Asp3816Gly) c.11147A>G (p.Asp3716Gly) c.8411A>G (p.Asp2804Gly) c.7304A>G (p.Asp2435Gly) c.11330A>G (p.Asp3777Gly) c.7082A>G (p.Asp2361Gly) c.10310A>G (p.Asp3437Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99870842A>T | CA371793662 | VPS13B | c.*619A>T (n.*619A>T) n.11595A>T c.*7207A>T (n.*7207A>T) c.11450A>T (p.Asp3817Val) c.11525A>T (p.Asp3842Val) n.467A>T c.11522A>T (p.Asp3841Val) c.11447A>T (p.Asp3816Val) c.11147A>T (p.Asp3716Val) c.8411A>T (p.Asp2804Val) c.7304A>T (p.Asp2435Val) c.11330A>T (p.Asp3777Val) c.7082A>T (p.Asp2361Val) c.10310A>T (p.Asp3437Val) | |
8 | g.99870842dup | CA2688073067 | VPS13B | c.*619dup (n.*619dup) n.11595dup c.*7207dup (n.*7207dup) c.11450dup (p.Asp3817GlufsTer5) c.11525dup (p.Asp3842GlufsTer5) n.467dup c.11522dup (p.Asp3841GlufsTer5) c.11447dup (p.Asp3816GlufsTer5) c.11147dup (p.Asp3716GlufsTer5) c.8411dup (p.Asp2804GlufsTer5) c.7304dup (p.Asp2435GlufsTer5) c.11330dup (p.Asp3777GlufsTer5) c.7082dup (p.Asp2361GlufsTer5) c.10310dup (p.Asp3437GlufsTer5) | gnomAD v4 |
8 | g.99870843T>A | CA371793663 | VPS13B | c.*620T>A (n.*620T>A) n.11596T>A c.*7208T>A (n.*7208T>A) c.11451T>A (p.Asp3817Glu) c.11526T>A (p.Asp3842Glu) n.468T>A c.11523T>A (p.Asp3841Glu) c.11448T>A (p.Asp3816Glu) c.11148T>A (p.Asp3716Glu) c.8412T>A (p.Asp2804Glu) c.7305T>A (p.Asp2435Glu) c.11331T>A (p.Asp3777Glu) c.7083T>A (p.Asp2361Glu) c.10311T>A (p.Asp3437Glu) | |
8 | g.99870843T>C | CA462339686 | VPS13B | c.*620T>C (n.*620T>C) n.11596T>C c.*7208T>C (n.*7208T>C) c.11451T>C (p.Asp3817=) c.11526T>C (p.Asp3842=) n.468T>C c.11523T>C (p.Asp3841=) c.11448T>C (p.Asp3816=) c.11148T>C (p.Asp3716=) c.8412T>C (p.Asp2804=) c.7305T>C (p.Asp2435=) c.11331T>C (p.Asp3777=) c.7083T>C (p.Asp2361=) c.10311T>C (p.Asp3437=) | |
8 | g.99870843T>G | CA182331135 | VPS13B | c.*620T>G (n.*620T>G) n.11596T>G c.*7208T>G (n.*7208T>G) c.11451T>G (p.Asp3817Glu) c.11526T>G (p.Asp3842Glu) n.468T>G c.11523T>G (p.Asp3841Glu) c.11448T>G (p.Asp3816Glu) c.11148T>G (p.Asp3716Glu) c.8412T>G (p.Asp2804Glu) c.7305T>G (p.Asp2435Glu) c.11331T>G (p.Asp3777Glu) c.7083T>G (p.Asp2361Glu) c.10311T>G (p.Asp3437Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99870844C>A | CA371793664 | VPS13B | c.*621C>A (n.*621C>A) n.11597C>A c.*7209C>A (n.*7209C>A) c.11452C>A (p.Leu3818Ile) c.11527C>A (p.Leu3843Ile) n.469C>A c.11524C>A (p.Leu3842Ile) c.11449C>A (p.Leu3817Ile) c.11149C>A (p.Leu3717Ile) c.8413C>A (p.Leu2805Ile) c.7306C>A (p.Leu2436Ile) c.11332C>A (p.Leu3778Ile) c.7084C>A (p.Leu2362Ile) c.10312C>A (p.Leu3438Ile) | |
8 | g.99870844C>G | CA371793665 | VPS13B | c.*621C>G (n.*621C>G) n.11597C>G c.*7209C>G (n.*7209C>G) c.11452C>G (p.Leu3818Val) c.11527C>G (p.Leu3843Val) n.469C>G c.11524C>G (p.Leu3842Val) c.11449C>G (p.Leu3817Val) c.11149C>G (p.Leu3717Val) c.8413C>G (p.Leu2805Val) c.7306C>G (p.Leu2436Val) c.11332C>G (p.Leu3778Val) c.7084C>G (p.Leu2362Val) c.10312C>G (p.Leu3438Val) | |
8 | g.99870844C>T | CA462339687 | VPS13B | c.*621C>T (n.*621C>T) n.11597C>T c.*7209C>T (n.*7209C>T) c.11452C>T (p.Leu3818=) c.11527C>T (p.Leu3843=) n.469C>T c.11524C>T (p.Leu3842=) c.11449C>T (p.Leu3817=) c.11149C>T (p.Leu3717=) c.8413C>T (p.Leu2805=) c.7306C>T (p.Leu2436=) c.11332C>T (p.Leu3778=) c.7084C>T (p.Leu2362=) c.10312C>T (p.Leu3438=) | |
8 | g.99870845T>A | CA371793666 | VPS13B | c.*622T>A (n.*622T>A) n.11598T>A c.*7210T>A (n.*7210T>A) c.11453T>A (p.Leu3818Gln) c.11528T>A (p.Leu3843Gln) n.470T>A c.11525T>A (p.Leu3842Gln) c.11450T>A (p.Leu3817Gln) c.11150T>A (p.Leu3717Gln) c.8414T>A (p.Leu2805Gln) c.7307T>A (p.Leu2436Gln) c.11333T>A (p.Leu3778Gln) c.7085T>A (p.Leu2362Gln) c.10313T>A (p.Leu3438Gln) | |
8 | g.99870845T>C | CA371793668 | VPS13B | c.*622T>C (n.*622T>C) n.11598T>C c.*7210T>C (n.*7210T>C) c.11453T>C (p.Leu3818Pro) c.11528T>C (p.Leu3843Pro) n.470T>C c.11525T>C (p.Leu3842Pro) c.11450T>C (p.Leu3817Pro) c.11150T>C (p.Leu3717Pro) c.8414T>C (p.Leu2805Pro) c.7307T>C (p.Leu2436Pro) c.11333T>C (p.Leu3778Pro) c.7085T>C (p.Leu2362Pro) c.10313T>C (p.Leu3438Pro) | gnomAD v4 |
8 | g.99870845T>G | CA371793667 | VPS13B | c.*622T>G (n.*622T>G) n.11598T>G c.*7210T>G (n.*7210T>G) c.11453T>G (p.Leu3818Arg) c.11528T>G (p.Leu3843Arg) n.470T>G c.11525T>G (p.Leu3842Arg) c.11450T>G (p.Leu3817Arg) c.11150T>G (p.Leu3717Arg) c.8414T>G (p.Leu2805Arg) c.7307T>G (p.Leu2436Arg) c.11333T>G (p.Leu3778Arg) c.7085T>G (p.Leu2362Arg) c.10313T>G (p.Leu3438Arg) | |
8 | g.99870845_99870846insC | CA2739268948 | VPS13B | c.*622_*623insC (n.*622_*623insC) n.11598_11599insC c.*7210_*7211insC (n.*7210_*7211insC) c.11453_11454insC (p.His3819ThrfsTer3) c.11528_11529insC (p.His3844ThrfsTer3) n.470_471insC c.11525_11526insC (p.His3843ThrfsTer3) c.11450_11451insC (p.His3818ThrfsTer3) c.11150_11151insC (p.His3718ThrfsTer3) c.8414_8415insC (p.His2806ThrfsTer3) c.7307_7308insC (p.His2437ThrfsTer3) c.11333_11334insC (p.His3779ThrfsTer3) c.7085_7086insC (p.His2363ThrfsTer3) c.10313_10314insC (p.His3439ThrfsTer3) | ClinVar |
8 | g.99870846A>C | CA462339689 | VPS13B | c.*623A>C (n.*623A>C) n.11599A>C c.*7211A>C (n.*7211A>C) c.11454A>C (p.Leu3818=) c.11529A>C (p.Leu3843=) n.471A>C c.11526A>C (p.Leu3842=) c.11451A>C (p.Leu3817=) c.11151A>C (p.Leu3717=) c.8415A>C (p.Leu2805=) c.7308A>C (p.Leu2436=) c.11334A>C (p.Leu3778=) c.7086A>C (p.Leu2362=) c.10314A>C (p.Leu3438=) | |
8 | g.99870846A>G | CA462339690 | VPS13B | c.*623A>G (n.*623A>G) n.11599A>G c.*7211A>G (n.*7211A>G) c.11454A>G (p.Leu3818=) c.11529A>G (p.Leu3843=) n.471A>G c.11526A>G (p.Leu3842=) c.11451A>G (p.Leu3817=) c.11151A>G (p.Leu3717=) c.8415A>G (p.Leu2805=) c.7308A>G (p.Leu2436=) c.11334A>G (p.Leu3778=) c.7086A>G (p.Leu2362=) c.10314A>G (p.Leu3438=) | ClinVar dbSNP gnomAD v4 |
8 | g.99870846A>T | CA462339691 | VPS13B | c.*623A>T (n.*623A>T) n.11599A>T c.*7211A>T (n.*7211A>T) c.11454A>T (p.Leu3818=) c.11529A>T (p.Leu3843=) n.471A>T c.11526A>T (p.Leu3842=) c.11451A>T (p.Leu3817=) c.11151A>T (p.Leu3717=) c.8415A>T (p.Leu2805=) c.7308A>T (p.Leu2436=) c.11334A>T (p.Leu3778=) c.7086A>T (p.Leu2362=) c.10314A>T (p.Leu3438=) | |
8 | g.99870847C>A | CA371793669 | VPS13B | c.*624C>A (n.*624C>A) n.11600C>A c.*7212C>A (n.*7212C>A) c.11455C>A (p.His3819Asn) c.11530C>A (p.His3844Asn) n.472C>A c.11527C>A (p.His3843Asn) c.11452C>A (p.His3818Asn) c.11152C>A (p.His3718Asn) c.8416C>A (p.His2806Asn) c.7309C>A (p.His2437Asn) c.11335C>A (p.His3779Asn) c.7087C>A (p.His2363Asn) c.10315C>A (p.His3439Asn) | |
8 | g.99870847C>G | CA371793670 | VPS13B | c.*624C>G (n.*624C>G) n.11600C>G c.*7212C>G (n.*7212C>G) c.11455C>G (p.His3819Asp) c.11530C>G (p.His3844Asp) n.472C>G c.11527C>G (p.His3843Asp) c.11452C>G (p.His3818Asp) c.11152C>G (p.His3718Asp) c.8416C>G (p.His2806Asp) c.7309C>G (p.His2437Asp) c.11335C>G (p.His3779Asp) c.7087C>G (p.His2363Asp) c.10315C>G (p.His3439Asp) | |
8 | g.99870847C>T | CA182331143 | VPS13B | c.*624C>T (n.*624C>T) n.11600C>T c.*7212C>T (n.*7212C>T) c.11455C>T (p.His3819Tyr) c.11530C>T (p.His3844Tyr) n.472C>T c.11527C>T (p.His3843Tyr) c.11452C>T (p.His3818Tyr) c.11152C>T (p.His3718Tyr) c.8416C>T (p.His2806Tyr) c.7309C>T (p.His2437Tyr) c.11335C>T (p.His3779Tyr) c.7087C>T (p.His2363Tyr) c.10315C>T (p.His3439Tyr) | dbSNP |
8 | g.99870848A>C | CA371793671 | VPS13B | c.*625A>C (n.*625A>C) n.11601A>C c.*7213A>C (n.*7213A>C) c.11456A>C (p.His3819Pro) c.11531A>C (p.His3844Pro) n.473A>C c.11528A>C (p.His3843Pro) c.11453A>C (p.His3818Pro) c.11153A>C (p.His3718Pro) c.8417A>C (p.His2806Pro) c.7310A>C (p.His2437Pro) c.11336A>C (p.His3779Pro) c.7088A>C (p.His2363Pro) c.10316A>C (p.His3439Pro) | gnomAD v4 |
8 | g.99870848A>G | CA371793672 | VPS13B | c.*625A>G (n.*625A>G) n.11601A>G c.*7213A>G (n.*7213A>G) c.11456A>G (p.His3819Arg) c.11531A>G (p.His3844Arg) n.473A>G c.11528A>G (p.His3843Arg) c.11453A>G (p.His3818Arg) c.11153A>G (p.His3718Arg) c.8417A>G (p.His2806Arg) c.7310A>G (p.His2437Arg) c.11336A>G (p.His3779Arg) c.7088A>G (p.His2363Arg) c.10316A>G (p.His3439Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99870848A>T | CA371793673 | VPS13B | c.*625A>T (n.*625A>T) n.11601A>T c.*7213A>T (n.*7213A>T) c.11456A>T (p.His3819Leu) c.11531A>T (p.His3844Leu) n.473A>T c.11528A>T (p.His3843Leu) c.11453A>T (p.His3818Leu) c.11153A>T (p.His3718Leu) c.8417A>T (p.His2806Leu) c.7310A>T (p.His2437Leu) c.11336A>T (p.His3779Leu) c.7088A>T (p.His2363Leu) c.10316A>T (p.His3439Leu) | gnomAD v4 |
8 | g.99870849T>A | CA371793674 | VPS13B | c.*626T>A (n.*626T>A) n.11602T>A c.*7214T>A (n.*7214T>A) c.11457T>A (p.His3819Gln) c.11532T>A (p.His3844Gln) n.474T>A c.11529T>A (p.His3843Gln) c.11454T>A (p.His3818Gln) c.11154T>A (p.His3718Gln) c.8418T>A (p.His2806Gln) c.7311T>A (p.His2437Gln) c.11337T>A (p.His3779Gln) c.7089T>A (p.His2363Gln) c.10317T>A (p.His3439Gln) | |
8 | g.99870849T>C | CA4825243 | VPS13B | c.*626T>C (n.*626T>C) n.11602T>C c.*7214T>C (n.*7214T>C) c.11457T>C (p.His3819=) c.11532T>C (p.His3844=) n.474T>C c.11529T>C (p.His3843=) c.11454T>C (p.His3818=) c.11154T>C (p.His3718=) c.8418T>C (p.His2806=) c.7311T>C (p.His2437=) c.11337T>C (p.His3779=) c.7089T>C (p.His2363=) c.10317T>C (p.His3439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870849T>G | CA371793675 | VPS13B | c.*626T>G (n.*626T>G) n.11602T>G c.*7214T>G (n.*7214T>G) c.11457T>G (p.His3819Gln) c.11532T>G (p.His3844Gln) n.474T>G c.11529T>G (p.His3843Gln) c.11454T>G (p.His3818Gln) c.11154T>G (p.His3718Gln) c.8418T>G (p.His2806Gln) c.7311T>G (p.His2437Gln) c.11337T>G (p.His3779Gln) c.7089T>G (p.His2363Gln) c.10317T>G (p.His3439Gln) | |
8 | g.99870850G>A | CA371793676 | VPS13B | c.*627G>A (n.*627G>A) n.11603G>A c.*7215G>A (n.*7215G>A) c.11458G>A (p.Ala3820Thr) c.11533G>A (p.Ala3845Thr) n.475G>A c.11530G>A (p.Ala3844Thr) c.11455G>A (p.Ala3819Thr) c.11155G>A (p.Ala3719Thr) c.8419G>A (p.Ala2807Thr) c.7312G>A (p.Ala2438Thr) c.11338G>A (p.Ala3780Thr) c.7090G>A (p.Ala2364Thr) c.10318G>A (p.Ala3440Thr) | gnomAD v4 |
8 | g.99870850G>C | CA371793677 | VPS13B | c.*627G>C (n.*627G>C) n.11603G>C c.*7215G>C (n.*7215G>C) c.11458G>C (p.Ala3820Pro) c.11533G>C (p.Ala3845Pro) n.475G>C c.11530G>C (p.Ala3844Pro) c.11455G>C (p.Ala3819Pro) c.11155G>C (p.Ala3719Pro) c.8419G>C (p.Ala2807Pro) c.7312G>C (p.Ala2438Pro) c.11338G>C (p.Ala3780Pro) c.7090G>C (p.Ala2364Pro) c.10318G>C (p.Ala3440Pro) | |
8 | g.99870850G>T | CA371793678 | VPS13B | c.*627G>T (n.*627G>T) n.11603G>T c.*7215G>T (n.*7215G>T) c.11458G>T (p.Ala3820Ser) c.11533G>T (p.Ala3845Ser) n.475G>T c.11530G>T (p.Ala3844Ser) c.11455G>T (p.Ala3819Ser) c.11155G>T (p.Ala3719Ser) c.8419G>T (p.Ala2807Ser) c.7312G>T (p.Ala2438Ser) c.11338G>T (p.Ala3780Ser) c.7090G>T (p.Ala2364Ser) c.10318G>T (p.Ala3440Ser) | |
8 | g.99870851C>A | CA371793679 | VPS13B | c.*628C>A (n.*628C>A) n.11604C>A c.*7216C>A (n.*7216C>A) c.11459C>A (p.Ala3820Asp) c.11534C>A (p.Ala3845Asp) n.476C>A c.11531C>A (p.Ala3844Asp) c.11456C>A (p.Ala3819Asp) c.11156C>A (p.Ala3719Asp) c.8420C>A (p.Ala2807Asp) c.7313C>A (p.Ala2438Asp) c.11339C>A (p.Ala3780Asp) c.7091C>A (p.Ala2364Asp) c.10319C>A (p.Ala3440Asp) | |
8 | g.99870851C>G | CA371793681 | VPS13B | c.*628C>G (n.*628C>G) n.11604C>G c.*7216C>G (n.*7216C>G) c.11459C>G (p.Ala3820Gly) c.11534C>G (p.Ala3845Gly) n.476C>G c.11531C>G (p.Ala3844Gly) c.11456C>G (p.Ala3819Gly) c.11156C>G (p.Ala3719Gly) c.8420C>G (p.Ala2807Gly) c.7313C>G (p.Ala2438Gly) c.11339C>G (p.Ala3780Gly) c.7091C>G (p.Ala2364Gly) c.10319C>G (p.Ala3440Gly) | |
8 | g.99870851C>T | CA371793680 | VPS13B | c.*628C>T (n.*628C>T) n.11604C>T c.*7216C>T (n.*7216C>T) c.11459C>T (p.Ala3820Val) c.11534C>T (p.Ala3845Val) n.476C>T c.11531C>T (p.Ala3844Val) c.11456C>T (p.Ala3819Val) c.11156C>T (p.Ala3719Val) c.8420C>T (p.Ala2807Val) c.7313C>T (p.Ala2438Val) c.11339C>T (p.Ala3780Val) c.7091C>T (p.Ala2364Val) c.10319C>T (p.Ala3440Val) | dbSNP |
8 | g.99870852T>A | CA462339701 | VPS13B | c.*629T>A (n.*629T>A) n.11605T>A c.*7217T>A (n.*7217T>A) c.11460T>A (p.Ala3820=) c.11535T>A (p.Ala3845=) n.477T>A c.11532T>A (p.Ala3844=) c.11457T>A (p.Ala3819=) c.11157T>A (p.Ala3719=) c.8421T>A (p.Ala2807=) c.7314T>A (p.Ala2438=) c.11340T>A (p.Ala3780=) c.7092T>A (p.Ala2364=) c.10320T>A (p.Ala3440=) | |
8 | g.99870852T>C | CA462339702 | VPS13B | c.*629T>C (n.*629T>C) n.11605T>C c.*7217T>C (n.*7217T>C) c.11460T>C (p.Ala3820=) c.11535T>C (p.Ala3845=) n.477T>C c.11532T>C (p.Ala3844=) c.11457T>C (p.Ala3819=) c.11157T>C (p.Ala3719=) c.8421T>C (p.Ala2807=) c.7314T>C (p.Ala2438=) c.11340T>C (p.Ala3780=) c.7092T>C (p.Ala2364=) c.10320T>C (p.Ala3440=) | |
8 | g.99870852T>G | CA462339703 | VPS13B | c.*629T>G (n.*629T>G) n.11605T>G c.*7217T>G (n.*7217T>G) c.11460T>G (p.Ala3820=) c.11535T>G (p.Ala3845=) n.477T>G c.11532T>G (p.Ala3844=) c.11457T>G (p.Ala3819=) c.11157T>G (p.Ala3719=) c.8421T>G (p.Ala2807=) c.7314T>G (p.Ala2438=) c.11340T>G (p.Ala3780=) c.7092T>G (p.Ala2364=) c.10320T>G (p.Ala3440=) | |
8 | g.99870853G>A | CA371793682 | VPS13B | c.*630G>A (n.*630G>A) n.11606G>A c.*7218G>A (n.*7218G>A) c.11461G>A (p.Asp3821Asn) c.11536G>A (p.Asp3846Asn) n.478G>A c.11533G>A (p.Asp3845Asn) c.11458G>A (p.Asp3820Asn) c.11158G>A (p.Asp3720Asn) c.8422G>A (p.Asp2808Asn) c.7315G>A (p.Asp2439Asn) c.11341G>A (p.Asp3781Asn) c.7093G>A (p.Asp2365Asn) c.10321G>A (p.Asp3441Asn) | ClinVar gnomAD v4 |
8 | g.99870853G>C | CA371793683 | VPS13B | c.*630G>C (n.*630G>C) n.11606G>C c.*7218G>C (n.*7218G>C) c.11461G>C (p.Asp3821His) c.11536G>C (p.Asp3846His) n.478G>C c.11533G>C (p.Asp3845His) c.11458G>C (p.Asp3820His) c.11158G>C (p.Asp3720His) c.8422G>C (p.Asp2808His) c.7315G>C (p.Asp2439His) c.11341G>C (p.Asp3781His) c.7093G>C (p.Asp2365His) c.10321G>C (p.Asp3441His) | |
8 | g.99870853G>T | CA371793684 | VPS13B | c.*630G>T (n.*630G>T) n.11606G>T c.*7218G>T (n.*7218G>T) c.11461G>T (p.Asp3821Tyr) c.11536G>T (p.Asp3846Tyr) n.478G>T c.11533G>T (p.Asp3845Tyr) c.11458G>T (p.Asp3820Tyr) c.11158G>T (p.Asp3720Tyr) c.8422G>T (p.Asp2808Tyr) c.7315G>T (p.Asp2439Tyr) c.11341G>T (p.Asp3781Tyr) c.7093G>T (p.Asp2365Tyr) c.10321G>T (p.Asp3441Tyr) | gnomAD v4 |
8 | g.99870854A>C | CA371793685 | VPS13B | c.*631A>C (n.*631A>C) n.11607A>C c.*7219A>C (n.*7219A>C) c.11462A>C (p.Asp3821Ala) c.11537A>C (p.Asp3846Ala) n.479A>C c.11534A>C (p.Asp3845Ala) c.11459A>C (p.Asp3820Ala) c.11159A>C (p.Asp3720Ala) c.8423A>C (p.Asp2808Ala) c.7316A>C (p.Asp2439Ala) c.11342A>C (p.Asp3781Ala) c.7094A>C (p.Asp2365Ala) c.10322A>C (p.Asp3441Ala) | |
8 | g.99870854A>G | CA371793686 | VPS13B | c.*631A>G (n.*631A>G) n.11607A>G c.*7219A>G (n.*7219A>G) c.11462A>G (p.Asp3821Gly) c.11537A>G (p.Asp3846Gly) n.479A>G c.11534A>G (p.Asp3845Gly) c.11459A>G (p.Asp3820Gly) c.11159A>G (p.Asp3720Gly) c.8423A>G (p.Asp2808Gly) c.7316A>G (p.Asp2439Gly) c.11342A>G (p.Asp3781Gly) c.7094A>G (p.Asp2365Gly) c.10322A>G (p.Asp3441Gly) | gnomAD v4 |
8 | g.99870854A>T | CA371793687 | VPS13B | c.*631A>T (n.*631A>T) n.11607A>T c.*7219A>T (n.*7219A>T) c.11462A>T (p.Asp3821Val) c.11537A>T (p.Asp3846Val) n.479A>T c.11534A>T (p.Asp3845Val) c.11459A>T (p.Asp3820Val) c.11159A>T (p.Asp3720Val) c.8423A>T (p.Asp2808Val) c.7316A>T (p.Asp2439Val) c.11342A>T (p.Asp3781Val) c.7094A>T (p.Asp2365Val) c.10322A>T (p.Asp3441Val) | |
8 | g.99870855C>A | CA371793688 | VPS13B | c.*632C>A (n.*632C>A) n.11608C>A c.*7220C>A (n.*7220C>A) c.11463C>A (p.Asp3821Glu) c.11538C>A (p.Asp3846Glu) n.480C>A c.11535C>A (p.Asp3845Glu) c.11460C>A (p.Asp3820Glu) c.11160C>A (p.Asp3720Glu) c.8424C>A (p.Asp2808Glu) c.7317C>A (p.Asp2439Glu) c.11343C>A (p.Asp3781Glu) c.7095C>A (p.Asp2365Glu) c.10323C>A (p.Asp3441Glu) | |
8 | g.99870855C>G | CA4825244 | VPS13B | c.*632C>G (n.*632C>G) n.11608C>G c.*7220C>G (n.*7220C>G) c.11463C>G (p.Asp3821Glu) c.11538C>G (p.Asp3846Glu) n.480C>G c.11535C>G (p.Asp3845Glu) c.11460C>G (p.Asp3820Glu) c.11160C>G (p.Asp3720Glu) c.8424C>G (p.Asp2808Glu) c.7317C>G (p.Asp2439Glu) c.11343C>G (p.Asp3781Glu) c.7095C>G (p.Asp2365Glu) c.10323C>G (p.Asp3441Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870855C>T | CA462339708 | VPS13B | c.*632C>T (n.*632C>T) n.11608C>T c.*7220C>T (n.*7220C>T) c.11463C>T (p.Asp3821=) c.11538C>T (p.Asp3846=) n.480C>T c.11535C>T (p.Asp3845=) c.11460C>T (p.Asp3820=) c.11160C>T (p.Asp3720=) c.8424C>T (p.Asp2808=) c.7317C>T (p.Asp2439=) c.11343C>T (p.Asp3781=) c.7095C>T (p.Asp2365=) c.10323C>T (p.Asp3441=) | gnomAD v4 |
8 | g.99870856C>A | CA371793689 | VPS13B | c.*633C>A (n.*633C>A) n.11609C>A c.*7221C>A (n.*7221C>A) c.11464C>A (p.Gln3822Lys) c.11539C>A (p.Gln3847Lys) n.481C>A c.11536C>A (p.Gln3846Lys) c.11461C>A (p.Gln3821Lys) c.11161C>A (p.Gln3721Lys) c.8425C>A (p.Gln2809Lys) c.7318C>A (p.Gln2440Lys) c.11344C>A (p.Gln3782Lys) c.7096C>A (p.Gln2366Lys) c.10324C>A (p.Gln3442Lys) | |
8 | g.99870856C>G | CA371793690 | VPS13B | c.*633C>G (n.*633C>G) n.11609C>G c.*7221C>G (n.*7221C>G) c.11464C>G (p.Gln3822Glu) c.11539C>G (p.Gln3847Glu) n.481C>G c.11536C>G (p.Gln3846Glu) c.11461C>G (p.Gln3821Glu) c.11161C>G (p.Gln3721Glu) c.8425C>G (p.Gln2809Glu) c.7318C>G (p.Gln2440Glu) c.11344C>G (p.Gln3782Glu) c.7096C>G (p.Gln2366Glu) c.10324C>G (p.Gln3442Glu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99870856C>T | CA371793691 | VPS13B | c.*633C>T (n.*633C>T) n.11609C>T c.*7221C>T (n.*7221C>T) c.11464C>T (p.Gln3822Ter) c.11539C>T (p.Gln3847Ter) n.481C>T c.11536C>T (p.Gln3846Ter) c.11461C>T (p.Gln3821Ter) c.11161C>T (p.Gln3721Ter) c.8425C>T (p.Gln2809Ter) c.7318C>T (p.Gln2440Ter) c.11344C>T (p.Gln3782Ter) c.7096C>T (p.Gln2366Ter) c.10324C>T (p.Gln3442Ter) | |
8 | g.99870857A>C | CA371793692 | VPS13B | c.*634A>C (n.*634A>C) n.11610A>C c.*7222A>C (n.*7222A>C) c.11465A>C (p.Gln3822Pro) c.11540A>C (p.Gln3847Pro) n.482A>C c.11537A>C (p.Gln3846Pro) c.11462A>C (p.Gln3821Pro) c.11162A>C (p.Gln3721Pro) c.8426A>C (p.Gln2809Pro) c.7319A>C (p.Gln2440Pro) c.11345A>C (p.Gln3782Pro) c.7097A>C (p.Gln2366Pro) c.10325A>C (p.Gln3442Pro) | |
8 | g.99870857A>G | CA371793693 | VPS13B | c.*634A>G (n.*634A>G) n.11610A>G c.*7222A>G (n.*7222A>G) c.11465A>G (p.Gln3822Arg) c.11540A>G (p.Gln3847Arg) n.482A>G c.11537A>G (p.Gln3846Arg) c.11462A>G (p.Gln3821Arg) c.11162A>G (p.Gln3721Arg) c.8426A>G (p.Gln2809Arg) c.7319A>G (p.Gln2440Arg) c.11345A>G (p.Gln3782Arg) c.7097A>G (p.Gln2366Arg) c.10325A>G (p.Gln3442Arg) | |
8 | g.99870857A>T | CA371793694 | VPS13B | c.*634A>T (n.*634A>T) n.11610A>T c.*7222A>T (n.*7222A>T) c.11465A>T (p.Gln3822Leu) c.11540A>T (p.Gln3847Leu) n.482A>T c.11537A>T (p.Gln3846Leu) c.11462A>T (p.Gln3821Leu) c.11162A>T (p.Gln3721Leu) c.8426A>T (p.Gln2809Leu) c.7319A>T (p.Gln2440Leu) c.11345A>T (p.Gln3782Leu) c.7097A>T (p.Gln2366Leu) c.10325A>T (p.Gln3442Leu) | |
8 | g.99870858G>A | CA462339711 | VPS13B | c.*635G>A (n.*635G>A) n.11611G>A c.*7223G>A (n.*7223G>A) c.11466G>A (p.Gln3822=) c.11541G>A (p.Gln3847=) n.483G>A c.11538G>A (p.Gln3846=) c.11463G>A (p.Gln3821=) c.11163G>A (p.Gln3721=) c.8427G>A (p.Gln2809=) c.7320G>A (p.Gln2440=) c.11346G>A (p.Gln3782=) c.7098G>A (p.Gln2366=) c.10326G>A (p.Gln3442=) | |
8 | g.99870858G>C | CA371793695 | VPS13B | c.*635G>C (n.*635G>C) n.11611G>C c.*7223G>C (n.*7223G>C) c.11466G>C (p.Gln3822His) c.11541G>C (p.Gln3847His) n.483G>C c.11538G>C (p.Gln3846His) c.11463G>C (p.Gln3821His) c.11163G>C (p.Gln3721His) c.8427G>C (p.Gln2809His) c.7320G>C (p.Gln2440His) c.11346G>C (p.Gln3782His) c.7098G>C (p.Gln2366His) c.10326G>C (p.Gln3442His) | gnomAD v4 |
8 | g.99870858G>T | CA371793696 | VPS13B | c.*635G>T (n.*635G>T) n.11611G>T c.*7223G>T (n.*7223G>T) c.11466G>T (p.Gln3822His) c.11541G>T (p.Gln3847His) n.483G>T c.11538G>T (p.Gln3846His) c.11463G>T (p.Gln3821His) c.11163G>T (p.Gln3721His) c.8427G>T (p.Gln2809His) c.7320G>T (p.Gln2440His) c.11346G>T (p.Gln3782His) c.7098G>T (p.Gln2366His) c.10326G>T (p.Gln3442His) | |
8 | g.99870859del | CA2688073085 | VPS13B | c.*636del (n.*636del) n.11612del c.*7224del (n.*7224del) c.11467del (p.Ala3823LeufsTer30) c.11542del (p.Ala3848LeufsTer30) n.484del c.11539del (p.Ala3847LeufsTer30) c.11464del (p.Ala3822LeufsTer30) c.11164del (p.Ala3722LeufsTer30) c.8428del (p.Ala2810LeufsTer30) c.7321del (p.Ala2441LeufsTer30) c.11347del (p.Ala3783LeufsTer30) c.7099del (p.Ala2367LeufsTer30) c.10327del (p.Ala3443LeufsTer30) | gnomAD v4 |
8 | g.99870859G>A | CA371793697 | VPS13B | c.*636G>A (n.*636G>A) n.11612G>A c.*7224G>A (n.*7224G>A) c.11467G>A (p.Ala3823Thr) c.11542G>A (p.Ala3848Thr) n.484G>A c.11539G>A (p.Ala3847Thr) c.11464G>A (p.Ala3822Thr) c.11164G>A (p.Ala3722Thr) c.8428G>A (p.Ala2810Thr) c.7321G>A (p.Ala2441Thr) c.11347G>A (p.Ala3783Thr) c.7099G>A (p.Ala2367Thr) c.10327G>A (p.Ala3443Thr) | dbSNP |
8 | g.99870859G>C | CA371793698 | VPS13B | c.*636G>C (n.*636G>C) n.11612G>C c.*7224G>C (n.*7224G>C) c.11467G>C (p.Ala3823Pro) c.11542G>C (p.Ala3848Pro) n.484G>C c.11539G>C (p.Ala3847Pro) c.11464G>C (p.Ala3822Pro) c.11164G>C (p.Ala3722Pro) c.8428G>C (p.Ala2810Pro) c.7321G>C (p.Ala2441Pro) c.11347G>C (p.Ala3783Pro) c.7099G>C (p.Ala2367Pro) c.10327G>C (p.Ala3443Pro) | |
8 | g.99870859G>T | CA371793699 | VPS13B | c.*636G>T (n.*636G>T) n.11612G>T c.*7224G>T (n.*7224G>T) c.11467G>T (p.Ala3823Ser) c.11542G>T (p.Ala3848Ser) n.484G>T c.11539G>T (p.Ala3847Ser) c.11464G>T (p.Ala3822Ser) c.11164G>T (p.Ala3722Ser) c.8428G>T (p.Ala2810Ser) c.7321G>T (p.Ala2441Ser) c.11347G>T (p.Ala3783Ser) c.7099G>T (p.Ala2367Ser) c.10327G>T (p.Ala3443Ser) | |
8 | g.99870860C>A | CA371793700 | VPS13B | c.*637C>A (n.*637C>A) n.11613C>A c.*7225C>A (n.*7225C>A) c.11468C>A (p.Ala3823Asp) c.11543C>A (p.Ala3848Asp) n.485C>A c.11540C>A (p.Ala3847Asp) c.11465C>A (p.Ala3822Asp) c.11165C>A (p.Ala3722Asp) c.8429C>A (p.Ala2810Asp) c.7322C>A (p.Ala2441Asp) c.11348C>A (p.Ala3783Asp) c.7100C>A (p.Ala2367Asp) c.10328C>A (p.Ala3443Asp) | |
8 | g.99870860C>G | CA371793701 | VPS13B | c.*637C>G (n.*637C>G) n.11613C>G c.*7225C>G (n.*7225C>G) c.11468C>G (p.Ala3823Gly) c.11543C>G (p.Ala3848Gly) n.485C>G c.11540C>G (p.Ala3847Gly) c.11465C>G (p.Ala3822Gly) c.11165C>G (p.Ala3722Gly) c.8429C>G (p.Ala2810Gly) c.7322C>G (p.Ala2441Gly) c.11348C>G (p.Ala3783Gly) c.7100C>G (p.Ala2367Gly) c.10328C>G (p.Ala3443Gly) | |
8 | g.99870860C>T | CA371793702 | VPS13B | c.*637C>T (n.*637C>T) n.11613C>T c.*7225C>T (n.*7225C>T) c.11468C>T (p.Ala3823Val) c.11543C>T (p.Ala3848Val) n.485C>T c.11540C>T (p.Ala3847Val) c.11465C>T (p.Ala3822Val) c.11165C>T (p.Ala3722Val) c.8429C>T (p.Ala2810Val) c.7322C>T (p.Ala2441Val) c.11348C>T (p.Ala3783Val) c.7100C>T (p.Ala2367Val) c.10328C>T (p.Ala3443Val) | |
8 | g.99870861T>A | CA462339718 | VPS13B | c.*638T>A (n.*638T>A) n.11614T>A c.*7226T>A (n.*7226T>A) c.11469T>A (p.Ala3823=) c.11544T>A (p.Ala3848=) n.486T>A c.11541T>A (p.Ala3847=) c.11466T>A (p.Ala3822=) c.11166T>A (p.Ala3722=) c.8430T>A (p.Ala2810=) c.7323T>A (p.Ala2441=) c.11349T>A (p.Ala3783=) c.7101T>A (p.Ala2367=) c.10329T>A (p.Ala3443=) | |
8 | g.99870861T>C | CA462339719 | VPS13B | c.*638T>C (n.*638T>C) n.11614T>C c.*7226T>C (n.*7226T>C) c.11469T>C (p.Ala3823=) c.11544T>C (p.Ala3848=) n.486T>C c.11541T>C (p.Ala3847=) c.11466T>C (p.Ala3822=) c.11166T>C (p.Ala3722=) c.8430T>C (p.Ala2810=) c.7323T>C (p.Ala2441=) c.11349T>C (p.Ala3783=) c.7101T>C (p.Ala2367=) c.10329T>C (p.Ala3443=) | |
8 | g.99870861T>G | CA462339720 | VPS13B | c.*638T>G (n.*638T>G) n.11614T>G c.*7226T>G (n.*7226T>G) c.11469T>G (p.Ala3823=) c.11544T>G (p.Ala3848=) n.486T>G c.11541T>G (p.Ala3847=) c.11466T>G (p.Ala3822=) c.11166T>G (p.Ala3722=) c.8430T>G (p.Ala2810=) c.7323T>G (p.Ala2441=) c.11349T>G (p.Ala3783=) c.7101T>G (p.Ala2367=) c.10329T>G (p.Ala3443=) | |
8 | g.99870862C>A | CA371793703 | VPS13B | c.*639C>A (n.*639C>A) n.11615C>A c.*7227C>A (n.*7227C>A) c.11470C>A (p.Pro3824Thr) c.11545C>A (p.Pro3849Thr) n.487C>A c.11542C>A (p.Pro3848Thr) c.11467C>A (p.Pro3823Thr) c.11167C>A (p.Pro3723Thr) c.8431C>A (p.Pro2811Thr) c.7324C>A (p.Pro2442Thr) c.11350C>A (p.Pro3784Thr) c.7102C>A (p.Pro2368Thr) c.10330C>A (p.Pro3444Thr) | |
8 | g.99870862C>G | CA371793704 | VPS13B | c.*639C>G (n.*639C>G) n.11615C>G c.*7227C>G (n.*7227C>G) c.11470C>G (p.Pro3824Ala) c.11545C>G (p.Pro3849Ala) n.487C>G c.11542C>G (p.Pro3848Ala) c.11467C>G (p.Pro3823Ala) c.11167C>G (p.Pro3723Ala) c.8431C>G (p.Pro2811Ala) c.7324C>G (p.Pro2442Ala) c.11350C>G (p.Pro3784Ala) c.7102C>G (p.Pro2368Ala) c.10330C>G (p.Pro3444Ala) | dbSNP |
8 | g.99870862C>T | CA4825245 | VPS13B | c.*639C>T (n.*639C>T) n.11615C>T c.*7227C>T (n.*7227C>T) c.11470C>T (p.Pro3824Ser) c.11545C>T (p.Pro3849Ser) n.487C>T c.11542C>T (p.Pro3848Ser) c.11467C>T (p.Pro3823Ser) c.11167C>T (p.Pro3723Ser) c.8431C>T (p.Pro2811Ser) c.7324C>T (p.Pro2442Ser) c.11350C>T (p.Pro3784Ser) c.7102C>T (p.Pro2368Ser) c.10330C>T (p.Pro3444Ser) | dbSNP ExAC gnomAD v2 |
8 | g.99870863C>A | CA182331157 | VPS13B | c.*640C>A (n.*640C>A) n.11616C>A c.*7228C>A (n.*7228C>A) c.11471C>A (p.Pro3824Gln) c.11546C>A (p.Pro3849Gln) n.488C>A c.11543C>A (p.Pro3848Gln) c.11468C>A (p.Pro3823Gln) c.11168C>A (p.Pro3723Gln) c.8432C>A (p.Pro2811Gln) c.7325C>A (p.Pro2442Gln) c.11351C>A (p.Pro3784Gln) c.7103C>A (p.Pro2368Gln) c.10331C>A (p.Pro3444Gln) | dbSNP |
8 | g.99870863C>G | CA371793705 | VPS13B | c.*640C>G (n.*640C>G) n.11616C>G c.*7228C>G (n.*7228C>G) c.11471C>G (p.Pro3824Arg) c.11546C>G (p.Pro3849Arg) n.488C>G c.11543C>G (p.Pro3848Arg) c.11468C>G (p.Pro3823Arg) c.11168C>G (p.Pro3723Arg) c.8432C>G (p.Pro2811Arg) c.7325C>G (p.Pro2442Arg) c.11351C>G (p.Pro3784Arg) c.7103C>G (p.Pro2368Arg) c.10331C>G (p.Pro3444Arg) | |
8 | g.99870863C>T | CA371793706 | VPS13B | c.*640C>T (n.*640C>T) n.11616C>T c.*7228C>T (n.*7228C>T) c.11471C>T (p.Pro3824Leu) c.11546C>T (p.Pro3849Leu) n.488C>T c.11543C>T (p.Pro3848Leu) c.11468C>T (p.Pro3823Leu) c.11168C>T (p.Pro3723Leu) c.8432C>T (p.Pro2811Leu) c.7325C>T (p.Pro2442Leu) c.11351C>T (p.Pro3784Leu) c.7103C>T (p.Pro2368Leu) c.10331C>T (p.Pro3444Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99870863_99870866delinsTGT | CA16041277 | VPS13B | c.*640_*643delinsTGT (n.*640_*643delinsTGT) n.11616_11619delinsTGT c.*7228_*7231delinsTGT (n.*7228_*7231delinsTGT) c.11471_11474delinsTGT (p.Pro3824LeufsTer29) c.11546_11549delinsTGT (p.Pro3849LeufsTer29) n.488_491delinsTGT c.11543_11546delinsTGT (p.Pro3848LeufsTer29) c.11468_11471delinsTGT (p.Pro3823LeufsTer29) c.11168_11171delinsTGT (p.Pro3723LeufsTer29) c.8432_8435delinsTGT (p.Pro2811LeufsTer29) c.7325_7328delinsTGT (p.Pro2442LeufsTer29) c.11351_11354delinsTGT (p.Pro3784LeufsTer29) c.7103_7106delinsTGT (p.Pro2368LeufsTer29) c.10331_10334delinsTGT (p.Pro3444LeufsTer29) | ClinVar dbSNP |
8 | g.99870865_99870868del | CA2573143505 | VPS13B | c.*642_*645del (n.*642_*645del) n.11618_11621del c.*7230_*7233del (n.*7230_*7233del) c.11473_11476del (p.Asn3825AlafsTer27) c.11548_11551del (p.Asn3850AlafsTer27) n.490_493del c.11545_11548del (p.Asn3849AlafsTer27) c.11470_11473del (p.Asn3824AlafsTer27) c.11170_11173del (p.Asn3724AlafsTer27) c.8434_8437del (p.Asn2812AlafsTer27) c.7327_7330del (p.Asn2443AlafsTer27) c.11353_11356del (p.Asn3785AlafsTer27) c.7105_7108del (p.Asn2369AlafsTer27) c.10333_10336del (p.Asn3445AlafsTer27) | ClinVar dbSNP |
8 | g.99870864A>C | CA462339727 | VPS13B | c.*641A>C (n.*641A>C) n.11617A>C c.*7229A>C (n.*7229A>C) c.11472A>C (p.Pro3824=) c.11547A>C (p.Pro3849=) n.489A>C c.11544A>C (p.Pro3848=) c.11469A>C (p.Pro3823=) c.11169A>C (p.Pro3723=) c.8433A>C (p.Pro2811=) c.7326A>C (p.Pro2442=) c.11352A>C (p.Pro3784=) c.7104A>C (p.Pro2368=) c.10332A>C (p.Pro3444=) | |
8 | g.99870864A>G | CA462339724 | VPS13B | c.*641A>G (n.*641A>G) n.11617A>G c.*7229A>G (n.*7229A>G) c.11472A>G (p.Pro3824=) c.11547A>G (p.Pro3849=) n.489A>G c.11544A>G (p.Pro3848=) c.11469A>G (p.Pro3823=) c.11169A>G (p.Pro3723=) c.8433A>G (p.Pro2811=) c.7326A>G (p.Pro2442=) c.11352A>G (p.Pro3784=) c.7104A>G (p.Pro2368=) c.10332A>G (p.Pro3444=) | ClinVar dbSNP gnomAD v4 |
8 | g.99870864A>T | CA462339725 | VPS13B | c.*641A>T (n.*641A>T) n.11617A>T c.*7229A>T (n.*7229A>T) c.11472A>T (p.Pro3824=) c.11547A>T (p.Pro3849=) n.489A>T c.11544A>T (p.Pro3848=) c.11469A>T (p.Pro3823=) c.11169A>T (p.Pro3723=) c.8433A>T (p.Pro2811=) c.7326A>T (p.Pro2442=) c.11352A>T (p.Pro3784=) c.7104A>T (p.Pro2368=) c.10332A>T (p.Pro3444=) | |
8 | g.99870865A>C | CA371793708 | VPS13B | c.*642A>C (n.*642A>C) n.11618A>C c.*7230A>C (n.*7230A>C) c.11473A>C (p.Asn3825His) c.11548A>C (p.Asn3850His) n.490A>C c.11545A>C (p.Asn3849His) c.11470A>C (p.Asn3824His) c.11170A>C (p.Asn3724His) c.8434A>C (p.Asn2812His) c.7327A>C (p.Asn2443His) c.11353A>C (p.Asn3785His) c.7105A>C (p.Asn2369His) c.10333A>C (p.Asn3445His) | |
8 | g.99870865A>G | CA371793709 | VPS13B | c.*642A>G (n.*642A>G) n.11618A>G c.*7230A>G (n.*7230A>G) c.11473A>G (p.Asn3825Asp) c.11548A>G (p.Asn3850Asp) n.490A>G c.11545A>G (p.Asn3849Asp) c.11470A>G (p.Asn3824Asp) c.11170A>G (p.Asn3724Asp) c.8434A>G (p.Asn2812Asp) c.7327A>G (p.Asn2443Asp) c.11353A>G (p.Asn3785Asp) c.7105A>G (p.Asn2369Asp) c.10333A>G (p.Asn3445Asp) | |
8 | g.99870865A>T | CA371793707 | VPS13B | c.*642A>T (n.*642A>T) n.11618A>T c.*7230A>T (n.*7230A>T) c.11473A>T (p.Asn3825Tyr) c.11548A>T (p.Asn3850Tyr) n.490A>T c.11545A>T (p.Asn3849Tyr) c.11470A>T (p.Asn3824Tyr) c.11170A>T (p.Asn3724Tyr) c.8434A>T (p.Asn2812Tyr) c.7327A>T (p.Asn2443Tyr) c.11353A>T (p.Asn3785Tyr) c.7105A>T (p.Asn2369Tyr) c.10333A>T (p.Asn3445Tyr) | |
8 | g.99870866A>C | CA371793710 | VPS13B | c.*643A>C (n.*643A>C) n.11619A>C c.*7231A>C (n.*7231A>C) c.11474A>C (p.Asn3825Thr) c.11549A>C (p.Asn3850Thr) n.491A>C c.11546A>C (p.Asn3849Thr) c.11471A>C (p.Asn3824Thr) c.11171A>C (p.Asn3724Thr) c.8435A>C (p.Asn2812Thr) c.7328A>C (p.Asn2443Thr) c.11354A>C (p.Asn3785Thr) c.7106A>C (p.Asn2369Thr) c.10334A>C (p.Asn3445Thr) | |
8 | g.99870866A>G | CA4825246 | VPS13B | c.*643A>G (n.*643A>G) n.11619A>G c.*7231A>G (n.*7231A>G) c.11474A>G (p.Asn3825Ser) c.11549A>G (p.Asn3850Ser) n.491A>G c.11546A>G (p.Asn3849Ser) c.11471A>G (p.Asn3824Ser) c.11171A>G (p.Asn3724Ser) c.8435A>G (p.Asn2812Ser) c.7328A>G (p.Asn2443Ser) c.11354A>G (p.Asn3785Ser) c.7106A>G (p.Asn2369Ser) c.10334A>G (p.Asn3445Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99870866A>T | CA371793711 | VPS13B | c.*643A>T (n.*643A>T) n.11619A>T c.*7231A>T (n.*7231A>T) c.11474A>T (p.Asn3825Ile) c.11549A>T (p.Asn3850Ile) n.491A>T c.11546A>T (p.Asn3849Ile) c.11471A>T (p.Asn3824Ile) c.11171A>T (p.Asn3724Ile) c.8435A>T (p.Asn2812Ile) c.7328A>T (p.Asn2443Ile) c.11354A>T (p.Asn3785Ile) c.7106A>T (p.Asn2369Ile) c.10334A>T (p.Asn3445Ile) | |
8 | g.99870867C>A | CA371793712 | VPS13B | c.*644C>A (n.*644C>A) n.11620C>A c.*7232C>A (n.*7232C>A) c.11475C>A (p.Asn3825Lys) c.11550C>A (p.Asn3850Lys) n.492C>A c.11547C>A (p.Asn3849Lys) c.11472C>A (p.Asn3824Lys) c.11172C>A (p.Asn3724Lys) c.8436C>A (p.Asn2812Lys) c.7329C>A (p.Asn2443Lys) c.11355C>A (p.Asn3785Lys) c.7107C>A (p.Asn2369Lys) c.10335C>A (p.Asn3445Lys) | |
8 | g.99870867C>G | CA371793713 | VPS13B | c.*644C>G (n.*644C>G) n.11620C>G c.*7232C>G (n.*7232C>G) c.11475C>G (p.Asn3825Lys) c.11550C>G (p.Asn3850Lys) n.492C>G c.11547C>G (p.Asn3849Lys) c.11472C>G (p.Asn3824Lys) c.11172C>G (p.Asn3724Lys) c.8436C>G (p.Asn2812Lys) c.7329C>G (p.Asn2443Lys) c.11355C>G (p.Asn3785Lys) c.7107C>G (p.Asn2369Lys) c.10335C>G (p.Asn3445Lys) | gnomAD v4 |
8 | g.99870867C>T | CA462339731 | VPS13B | c.*644C>T (n.*644C>T) n.11620C>T c.*7232C>T (n.*7232C>T) c.11475C>T (p.Asn3825=) c.11550C>T (p.Asn3850=) n.492C>T c.11547C>T (p.Asn3849=) c.11472C>T (p.Asn3824=) c.11172C>T (p.Asn3724=) c.8436C>T (p.Asn2812=) c.7329C>T (p.Asn2443=) c.11355C>T (p.Asn3785=) c.7107C>T (p.Asn2369=) c.10335C>T (p.Asn3445=) | gnomAD v4 |
8 | g.99870868A>C | CA371793714 | VPS13B | c.*645A>C (n.*645A>C) n.11621A>C c.*7233A>C (n.*7233A>C) c.11476A>C (p.Ser3826Arg) c.11551A>C (p.Ser3851Arg) n.493A>C c.11548A>C (p.Ser3850Arg) c.11473A>C (p.Ser3825Arg) c.11173A>C (p.Ser3725Arg) c.8437A>C (p.Ser2813Arg) c.7330A>C (p.Ser2444Arg) c.11356A>C (p.Ser3786Arg) c.7108A>C (p.Ser2370Arg) c.10336A>C (p.Ser3446Arg) | |
8 | g.99870868A>G | CA182331158 | VPS13B | c.*645A>G (n.*645A>G) n.11621A>G c.*7233A>G (n.*7233A>G) c.11476A>G (p.Ser3826Gly) c.11551A>G (p.Ser3851Gly) n.493A>G c.11548A>G (p.Ser3850Gly) c.11473A>G (p.Ser3825Gly) c.11173A>G (p.Ser3725Gly) c.8437A>G (p.Ser2813Gly) c.7330A>G (p.Ser2444Gly) c.11356A>G (p.Ser3786Gly) c.7108A>G (p.Ser2370Gly) c.10336A>G (p.Ser3446Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99870868A>T | CA371793715 | VPS13B | c.*645A>T (n.*645A>T) n.11621A>T c.*7233A>T (n.*7233A>T) c.11476A>T (p.Ser3826Cys) c.11551A>T (p.Ser3851Cys) n.493A>T c.11548A>T (p.Ser3850Cys) c.11473A>T (p.Ser3825Cys) c.11173A>T (p.Ser3725Cys) c.8437A>T (p.Ser2813Cys) c.7330A>T (p.Ser2444Cys) c.11356A>T (p.Ser3786Cys) c.7108A>T (p.Ser2370Cys) c.10336A>T (p.Ser3446Cys) | |
8 | g.99870869G>A | CA371793716 | VPS13B | c.*646G>A (n.*646G>A) n.11622G>A c.*7234G>A (n.*7234G>A) c.11477G>A (p.Ser3826Asn) c.11552G>A (p.Ser3851Asn) n.494G>A c.11549G>A (p.Ser3850Asn) c.11474G>A (p.Ser3825Asn) c.11174G>A (p.Ser3725Asn) c.8438G>A (p.Ser2813Asn) c.7331G>A (p.Ser2444Asn) c.11357G>A (p.Ser3786Asn) c.7109G>A (p.Ser2370Asn) c.10337G>A (p.Ser3446Asn) | |
8 | g.99870869G>C | CA371793718 | VPS13B | c.*646G>C (n.*646G>C) n.11622G>C c.*7234G>C (n.*7234G>C) c.11477G>C (p.Ser3826Thr) c.11552G>C (p.Ser3851Thr) n.494G>C c.11549G>C (p.Ser3850Thr) c.11474G>C (p.Ser3825Thr) c.11174G>C (p.Ser3725Thr) c.8438G>C (p.Ser2813Thr) c.7331G>C (p.Ser2444Thr) c.11357G>C (p.Ser3786Thr) c.7109G>C (p.Ser2370Thr) c.10337G>C (p.Ser3446Thr) | |
8 | g.99870869G>T | CA371793717 | VPS13B | c.*646G>T (n.*646G>T) n.11622G>T c.*7234G>T (n.*7234G>T) c.11477G>T (p.Ser3826Ile) c.11552G>T (p.Ser3851Ile) n.494G>T c.11549G>T (p.Ser3850Ile) c.11474G>T (p.Ser3825Ile) c.11174G>T (p.Ser3725Ile) c.8438G>T (p.Ser2813Ile) c.7331G>T (p.Ser2444Ile) c.11357G>T (p.Ser3786Ile) c.7109G>T (p.Ser2370Ile) c.10337G>T (p.Ser3446Ile) | |
8 | g.99870870C>A | CA371793719 | VPS13B | c.*647C>A (n.*647C>A) n.11623C>A c.*7235C>A (n.*7235C>A) c.11478C>A (p.Ser3826Arg) c.11553C>A (p.Ser3851Arg) n.495C>A c.11550C>A (p.Ser3850Arg) c.11475C>A (p.Ser3825Arg) c.11175C>A (p.Ser3725Arg) c.8439C>A (p.Ser2813Arg) c.7332C>A (p.Ser2444Arg) c.11358C>A (p.Ser3786Arg) c.7110C>A (p.Ser2370Arg) c.10338C>A (p.Ser3446Arg) | |
8 | g.99870870C>G | CA371793720 | VPS13B | c.*647C>G (n.*647C>G) n.11623C>G c.*7235C>G (n.*7235C>G) c.11478C>G (p.Ser3826Arg) c.11553C>G (p.Ser3851Arg) n.495C>G c.11550C>G (p.Ser3850Arg) c.11475C>G (p.Ser3825Arg) c.11175C>G (p.Ser3725Arg) c.8439C>G (p.Ser2813Arg) c.7332C>G (p.Ser2444Arg) c.11358C>G (p.Ser3786Arg) c.7110C>G (p.Ser2370Arg) c.10338C>G (p.Ser3446Arg) | |
8 | g.99870870C>T | CA462339735 | VPS13B | c.*647C>T (n.*647C>T) n.11623C>T c.*7235C>T (n.*7235C>T) c.11478C>T (p.Ser3826=) c.11553C>T (p.Ser3851=) n.495C>T c.11550C>T (p.Ser3850=) c.11475C>T (p.Ser3825=) c.11175C>T (p.Ser3725=) c.8439C>T (p.Ser2813=) c.7332C>T (p.Ser2444=) c.11358C>T (p.Ser3786=) c.7110C>T (p.Ser2370=) c.10338C>T (p.Ser3446=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99870871C>A | CA371793721 | VPS13B | c.*648C>A (n.*648C>A) n.11624C>A c.*7236C>A (n.*7236C>A) c.11479C>A (p.His3827Asn) c.11554C>A (p.His3852Asn) n.496C>A c.11551C>A (p.His3851Asn) c.11476C>A (p.His3826Asn) c.11176C>A (p.His3726Asn) c.8440C>A (p.His2814Asn) c.7333C>A (p.His2445Asn) c.11359C>A (p.His3787Asn) c.7111C>A (p.His2371Asn) c.10339C>A (p.His3447Asn) | |
8 | g.99870871C>G | CA371793722 | VPS13B | c.*648C>G (n.*648C>G) n.11624C>G c.*7236C>G (n.*7236C>G) c.11479C>G (p.His3827Asp) c.11554C>G (p.His3852Asp) n.496C>G c.11551C>G (p.His3851Asp) c.11476C>G (p.His3826Asp) c.11176C>G (p.His3726Asp) c.8440C>G (p.His2814Asp) c.7333C>G (p.His2445Asp) c.11359C>G (p.His3787Asp) c.7111C>G (p.His2371Asp) c.10339C>G (p.His3447Asp) | |
8 | g.99870871C>T | CA371793723 | VPS13B | c.*648C>T (n.*648C>T) n.11624C>T c.*7236C>T (n.*7236C>T) c.11479C>T (p.His3827Tyr) c.11554C>T (p.His3852Tyr) n.496C>T c.11551C>T (p.His3851Tyr) c.11476C>T (p.His3826Tyr) c.11176C>T (p.His3726Tyr) c.8440C>T (p.His2814Tyr) c.7333C>T (p.His2445Tyr) c.11359C>T (p.His3787Tyr) c.7111C>T (p.His2371Tyr) c.10339C>T (p.His3447Tyr) | COSMIC COSMIC |
8 | g.99870872A>C | CA371793724 | VPS13B | c.*649A>C (n.*649A>C) n.11625A>C c.*7237A>C (n.*7237A>C) c.11480A>C (p.His3827Pro) c.11555A>C (p.His3852Pro) n.497A>C c.11552A>C (p.His3851Pro) c.11477A>C (p.His3826Pro) c.11177A>C (p.His3726Pro) c.8441A>C (p.His2814Pro) c.7334A>C (p.His2445Pro) c.11360A>C (p.His3787Pro) c.7112A>C (p.His2371Pro) c.10340A>C (p.His3447Pro) | |
8 | g.99870872A>G | CA371793725 | VPS13B | c.*649A>G (n.*649A>G) n.11625A>G c.*7237A>G (n.*7237A>G) c.11480A>G (p.His3827Arg) c.11555A>G (p.His3852Arg) n.497A>G c.11552A>G (p.His3851Arg) c.11477A>G (p.His3826Arg) c.11177A>G (p.His3726Arg) c.8441A>G (p.His2814Arg) c.7334A>G (p.His2445Arg) c.11360A>G (p.His3787Arg) c.7112A>G (p.His2371Arg) c.10340A>G (p.His3447Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99870872A>T | CA371793726 | VPS13B | c.*649A>T (n.*649A>T) n.11625A>T c.*7237A>T (n.*7237A>T) c.11480A>T (p.His3827Leu) c.11555A>T (p.His3852Leu) n.497A>T c.11552A>T (p.His3851Leu) c.11477A>T (p.His3826Leu) c.11177A>T (p.His3726Leu) c.8441A>T (p.His2814Leu) c.7334A>T (p.His2445Leu) c.11360A>T (p.His3787Leu) c.7112A>T (p.His2371Leu) c.10340A>T (p.His3447Leu) | |
8 | g.99870873T>A | CA371793727 | VPS13B | c.*650T>A (n.*650T>A) n.11626T>A c.*7238T>A (n.*7238T>A) c.11481T>A (p.His3827Gln) c.11556T>A (p.His3852Gln) n.498T>A c.11553T>A (p.His3851Gln) c.11478T>A (p.His3826Gln) c.11178T>A (p.His3726Gln) c.8442T>A (p.His2814Gln) c.7335T>A (p.His2445Gln) c.11361T>A (p.His3787Gln) c.7113T>A (p.His2371Gln) c.10341T>A (p.His3447Gln) | gnomAD v4 |
8 | g.99870873T>C | CA462339742 | VPS13B | c.*650T>C (n.*650T>C) n.11626T>C c.*7238T>C (n.*7238T>C) c.11481T>C (p.His3827=) c.11556T>C (p.His3852=) n.498T>C c.11553T>C (p.His3851=) c.11478T>C (p.His3826=) c.11178T>C (p.His3726=) c.8442T>C (p.His2814=) c.7335T>C (p.His2445=) c.11361T>C (p.His3787=) c.7113T>C (p.His2371=) c.10341T>C (p.His3447=) | |
8 | g.99870873T>G | CA371793728 | VPS13B | c.*650T>G (n.*650T>G) n.11626T>G c.*7238T>G (n.*7238T>G) c.11481T>G (p.His3827Gln) c.11556T>G (p.His3852Gln) n.498T>G c.11553T>G (p.His3851Gln) c.11478T>G (p.His3826Gln) c.11178T>G (p.His3726Gln) c.8442T>G (p.His2814Gln) c.7335T>G (p.His2445Gln) c.11361T>G (p.His3787Gln) c.7113T>G (p.His2371Gln) c.10341T>G (p.His3447Gln) | ClinVar dbSNP |
8 | g.99870873dup | CA264014 | VPS13B | c.*650dup (n.*650dup) n.11626dup c.*7238dup (n.*7238dup) c.11481dup (p.Val3828CysfsTer?) c.11556dup (p.Val3853CysfsTer?) n.498dup c.11553dup (p.Val3852CysfsTer?) c.11478dup (p.Val3827CysfsTer?) c.11178dup (p.Val3727CysfsTer?) c.8442dup (p.Val2815CysfsTer?) c.7335dup (p.Val2446CysfsTer?) c.11361dup (p.Val3788CysfsTer?) c.7113dup (p.Val2372CysfsTer?) c.10341dup (p.Val3448CysfsTer?) | ClinVar dbSNP |
8 | g.99870874G>A | CA371793729 | VPS13B | c.*651G>A (n.*651G>A) n.11627G>A c.*7239G>A (n.*7239G>A) c.11482G>A (p.Val3828Ile) c.11557G>A (p.Val3853Ile) n.499G>A c.11554G>A (p.Val3852Ile) c.11479G>A (p.Val3827Ile) c.11179G>A (p.Val3727Ile) c.8443G>A (p.Val2815Ile) c.7336G>A (p.Val2446Ile) c.11362G>A (p.Val3788Ile) c.7114G>A (p.Val2372Ile) c.10342G>A (p.Val3448Ile) | gnomAD v4 |
8 | g.99870874G>C | CA371793730 | VPS13B | c.*651G>C (n.*651G>C) n.11627G>C c.*7239G>C (n.*7239G>C) c.11482G>C (p.Val3828Leu) c.11557G>C (p.Val3853Leu) n.499G>C c.11554G>C (p.Val3852Leu) c.11479G>C (p.Val3827Leu) c.11179G>C (p.Val3727Leu) c.8443G>C (p.Val2815Leu) c.7336G>C (p.Val2446Leu) c.11362G>C (p.Val3788Leu) c.7114G>C (p.Val2372Leu) c.10342G>C (p.Val3448Leu) | |
8 | g.99870874G>T | CA371793731 | VPS13B | c.*651G>T (n.*651G>T) n.11627G>T c.*7239G>T (n.*7239G>T) c.11482G>T (p.Val3828Phe) c.11557G>T (p.Val3853Phe) n.499G>T c.11554G>T (p.Val3852Phe) c.11479G>T (p.Val3827Phe) c.11179G>T (p.Val3727Phe) c.8443G>T (p.Val2815Phe) c.7336G>T (p.Val2446Phe) c.11362G>T (p.Val3788Phe) c.7114G>T (p.Val2372Phe) c.10342G>T (p.Val3448Phe) | |
8 | g.99870875T>A | CA371793732 | VPS13B | c.*652T>A (n.*652T>A) n.11628T>A c.*7240T>A (n.*7240T>A) c.11483T>A (p.Val3828Asp) c.11558T>A (p.Val3853Asp) n.500T>A c.11555T>A (p.Val3852Asp) c.11480T>A (p.Val3827Asp) c.11180T>A (p.Val3727Asp) c.8444T>A (p.Val2815Asp) c.7337T>A (p.Val2446Asp) c.11363T>A (p.Val3788Asp) c.7115T>A (p.Val2372Asp) c.10343T>A (p.Val3448Asp) | |
8 | g.99870875T>C | CA371793734 | VPS13B | c.*652T>C (n.*652T>C) n.11628T>C c.*7240T>C (n.*7240T>C) c.11483T>C (p.Val3828Ala) c.11558T>C (p.Val3853Ala) n.500T>C c.11555T>C (p.Val3852Ala) c.11480T>C (p.Val3827Ala) c.11180T>C (p.Val3727Ala) c.8444T>C (p.Val2815Ala) c.7337T>C (p.Val2446Ala) c.11363T>C (p.Val3788Ala) c.7115T>C (p.Val2372Ala) c.10343T>C (p.Val3448Ala) | |
8 | g.99870875T>G | CA371793733 | VPS13B | c.*652T>G (n.*652T>G) n.11628T>G c.*7240T>G (n.*7240T>G) c.11483T>G (p.Val3828Gly) c.11558T>G (p.Val3853Gly) n.500T>G c.11555T>G (p.Val3852Gly) c.11480T>G (p.Val3827Gly) c.11180T>G (p.Val3727Gly) c.8444T>G (p.Val2815Gly) c.7337T>G (p.Val2446Gly) c.11363T>G (p.Val3788Gly) c.7115T>G (p.Val2372Gly) c.10343T>G (p.Val3448Gly) | COSMIC COSMIC |
8 | g.99870876C>A | CA462339749 | VPS13B | c.*653C>A (n.*653C>A) n.11629C>A c.*7241C>A (n.*7241C>A) c.11484C>A (p.Val3828=) c.11559C>A (p.Val3853=) n.501C>A c.11556C>A (p.Val3852=) c.11481C>A (p.Val3827=) c.11181C>A (p.Val3727=) c.8445C>A (p.Val2815=) c.7338C>A (p.Val2446=) c.11364C>A (p.Val3788=) c.7116C>A (p.Val2372=) c.10344C>A (p.Val3448=) | |
8 | g.99870876C>G | CA4825247 | VPS13B | c.*653C>G (n.*653C>G) n.11629C>G c.*7241C>G (n.*7241C>G) c.11484C>G (p.Val3828=) c.11559C>G (p.Val3853=) n.501C>G c.11556C>G (p.Val3852=) c.11481C>G (p.Val3827=) c.11181C>G (p.Val3727=) c.8445C>G (p.Val2815=) c.7338C>G (p.Val2446=) c.11364C>G (p.Val3788=) c.7116C>G (p.Val2372=) c.10344C>G (p.Val3448=) | ClinVar dbSNP ExAC gnomAD v2 |
8 | g.99870876C>T | CA462339747 | VPS13B | c.*653C>T (n.*653C>T) n.11629C>T c.*7241C>T (n.*7241C>T) c.11484C>T (p.Val3828=) c.11559C>T (p.Val3853=) n.501C>T c.11556C>T (p.Val3852=) c.11481C>T (p.Val3827=) c.11181C>T (p.Val3727=) c.8445C>T (p.Val2815=) c.7338C>T (p.Val2446=) c.11364C>T (p.Val3788=) c.7116C>T (p.Val2372=) c.10344C>T (p.Val3448=) | gnomAD v4 |
8 | g.99870877A>C | CA371793735 | VPS13B | c.*654A>C (n.*654A>C) n.11630A>C c.*7242A>C (n.*7242A>C) c.11485A>C (p.Lys3829Gln) c.11560A>C (p.Lys3854Gln) n.502A>C c.11557A>C (p.Lys3853Gln) c.11482A>C (p.Lys3828Gln) c.11182A>C (p.Lys3728Gln) c.8446A>C (p.Lys2816Gln) c.7339A>C (p.Lys2447Gln) c.11365A>C (p.Lys3789Gln) c.7117A>C (p.Lys2373Gln) c.10345A>C (p.Lys3449Gln) | gnomAD v4 |
8 | g.99870877A>G | CA371793736 | VPS13B | c.*654A>G (n.*654A>G) n.11630A>G c.*7242A>G (n.*7242A>G) c.11485A>G (p.Lys3829Glu) c.11560A>G (p.Lys3854Glu) n.502A>G c.11557A>G (p.Lys3853Glu) c.11482A>G (p.Lys3828Glu) c.11182A>G (p.Lys3728Glu) c.8446A>G (p.Lys2816Glu) c.7339A>G (p.Lys2447Glu) c.11365A>G (p.Lys3789Glu) c.7117A>G (p.Lys2373Glu) c.10345A>G (p.Lys3449Glu) | |
8 | g.99870877A>T | CA371793737 | VPS13B | c.*654A>T (n.*654A>T) n.11630A>T c.*7242A>T (n.*7242A>T) c.11485A>T (p.Lys3829Ter) c.11560A>T (p.Lys3854Ter) n.502A>T c.11557A>T (p.Lys3853Ter) c.11482A>T (p.Lys3828Ter) c.11182A>T (p.Lys3728Ter) c.8446A>T (p.Lys2816Ter) c.7339A>T (p.Lys2447Ter) c.11365A>T (p.Lys3789Ter) c.7117A>T (p.Lys2373Ter) c.10345A>T (p.Lys3449Ter) | |
8 | g.99870878A>C | CA371793738 | VPS13B | c.*655A>C (n.*655A>C) n.11631A>C c.*7243A>C (n.*7243A>C) c.11486A>C (p.Lys3829Thr) c.11561A>C (p.Lys3854Thr) n.503A>C c.11558A>C (p.Lys3853Thr) c.11483A>C (p.Lys3828Thr) c.11183A>C (p.Lys3728Thr) c.8447A>C (p.Lys2816Thr) c.7340A>C (p.Lys2447Thr) c.11366A>C (p.Lys3789Thr) c.7118A>C (p.Lys2373Thr) c.10346A>C (p.Lys3449Thr) | |
8 | g.99870878A>G | CA371793739 | VPS13B | c.*655A>G (n.*655A>G) n.11631A>G c.*7243A>G (n.*7243A>G) c.11486A>G (p.Lys3829Arg) c.11561A>G (p.Lys3854Arg) n.503A>G c.11558A>G (p.Lys3853Arg) c.11483A>G (p.Lys3828Arg) c.11183A>G (p.Lys3728Arg) c.8447A>G (p.Lys2816Arg) c.7340A>G (p.Lys2447Arg) c.11366A>G (p.Lys3789Arg) c.7118A>G (p.Lys2373Arg) c.10346A>G (p.Lys3449Arg) | |
8 | g.99870878A>T | CA371793740 | VPS13B | c.*655A>T (n.*655A>T) n.11631A>T c.*7243A>T (n.*7243A>T) c.11486A>T (p.Lys3829Ile) c.11561A>T (p.Lys3854Ile) n.503A>T c.11558A>T (p.Lys3853Ile) c.11483A>T (p.Lys3828Ile) c.11183A>T (p.Lys3728Ile) c.8447A>T (p.Lys2816Ile) c.7340A>T (p.Lys2447Ile) c.11366A>T (p.Lys3789Ile) c.7118A>T (p.Lys2373Ile) c.10346A>T (p.Lys3449Ile) |