UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99861816C>A | CA462338052 | VPS13B | c.*254C>A (n.*254C>A) n.11230C>A c.*6842C>A (n.*6842C>A) c.11085C>A (p.Ala3695=) c.11160C>A (p.Ala3720=) c.11157C>A (p.Ala3719=) c.11082C>A (p.Ala3694=) c.10782C>A (p.Ala3594=) c.8046C>A (p.Ala2682=) c.6939C>A (p.Ala2313=) c.10965C>A (p.Ala3655=) c.6717C>A (p.Ala2239=) c.9945C>A (p.Ala3315=) | gnomAD v4 |
| 8 | g.99861816C>G | CA462338053 | VPS13B | c.*254C>G (n.*254C>G) n.11230C>G c.*6842C>G (n.*6842C>G) c.11085C>G (p.Ala3695=) c.11160C>G (p.Ala3720=) c.11157C>G (p.Ala3719=) c.11082C>G (p.Ala3694=) c.10782C>G (p.Ala3594=) c.8046C>G (p.Ala2682=) c.6939C>G (p.Ala2313=) c.10965C>G (p.Ala3655=) c.6717C>G (p.Ala2239=) c.9945C>G (p.Ala3315=) | gnomAD v4 |
| 8 | g.99861816C>T | CA462338054 | VPS13B | c.*254C>T (n.*254C>T) n.11230C>T c.*6842C>T (n.*6842C>T) c.11085C>T (p.Ala3695=) c.11160C>T (p.Ala3720=) c.11157C>T (p.Ala3719=) c.11082C>T (p.Ala3694=) c.10782C>T (p.Ala3594=) c.8046C>T (p.Ala2682=) c.6939C>T (p.Ala2313=) c.10965C>T (p.Ala3655=) c.6717C>T (p.Ala2239=) c.9945C>T (p.Ala3315=) | |
| 8 | g.99861817C>A | CA462338055 | VPS13B | c.*255C>A (n.*255C>A) n.11231C>A c.*6843C>A (n.*6843C>A) c.11086C>A (p.Arg3696=) c.11161C>A (p.Arg3721=) c.11158C>A (p.Arg3720=) c.11083C>A (p.Arg3695=) c.10783C>A (p.Arg3595=) c.8047C>A (p.Arg2683=) c.6940C>A (p.Arg2314=) c.10966C>A (p.Arg3656=) c.6718C>A (p.Arg2240=) c.9946C>A (p.Arg3316=) | gnomAD v4 |
| 8 | g.99861817C>G | CA371790345 | VPS13B | c.*255C>G (n.*255C>G) n.11231C>G c.*6843C>G (n.*6843C>G) c.11086C>G (p.Arg3696Gly) c.11161C>G (p.Arg3721Gly) c.11158C>G (p.Arg3720Gly) c.11083C>G (p.Arg3695Gly) c.10783C>G (p.Arg3595Gly) c.8047C>G (p.Arg2683Gly) c.6940C>G (p.Arg2314Gly) c.10966C>G (p.Arg3656Gly) c.6718C>G (p.Arg2240Gly) c.9946C>G (p.Arg3316Gly) | |
| 8 | g.99861817C>T | CA4825140 | VPS13B | c.*255C>T (n.*255C>T) n.11231C>T c.*6843C>T (n.*6843C>T) c.11086C>T (p.Arg3696Trp) c.11161C>T (p.Arg3721Trp) c.11158C>T (p.Arg3720Trp) c.11083C>T (p.Arg3695Trp) c.10783C>T (p.Arg3595Trp) c.8047C>T (p.Arg2683Trp) c.6940C>T (p.Arg2314Trp) c.10966C>T (p.Arg3656Trp) c.6718C>T (p.Arg2240Trp) c.9946C>T (p.Arg3316Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861818G>A | CA4825141 | VPS13B | c.*256G>A (n.*256G>A) n.11232G>A c.*6844G>A (n.*6844G>A) c.11087G>A (p.Arg3696Gln) c.11162G>A (p.Arg3721Gln) c.11159G>A (p.Arg3720Gln) c.11084G>A (p.Arg3695Gln) c.10784G>A (p.Arg3595Gln) c.8048G>A (p.Arg2683Gln) c.6941G>A (p.Arg2314Gln) c.10967G>A (p.Arg3656Gln) c.6719G>A (p.Arg2240Gln) c.9947G>A (p.Arg3316Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861818G>C | CA371790351 | VPS13B | c.*256G>C (n.*256G>C) n.11232G>C c.*6844G>C (n.*6844G>C) c.11087G>C (p.Arg3696Pro) c.11162G>C (p.Arg3721Pro) c.11159G>C (p.Arg3720Pro) c.11084G>C (p.Arg3695Pro) c.10784G>C (p.Arg3595Pro) c.8048G>C (p.Arg2683Pro) c.6941G>C (p.Arg2314Pro) c.10967G>C (p.Arg3656Pro) c.6719G>C (p.Arg2240Pro) c.9947G>C (p.Arg3316Pro) | |
| 8 | g.99861818G>T | CA371790352 | VPS13B | c.*256G>T (n.*256G>T) n.11232G>T c.*6844G>T (n.*6844G>T) c.11087G>T (p.Arg3696Leu) c.11162G>T (p.Arg3721Leu) c.11159G>T (p.Arg3720Leu) c.11084G>T (p.Arg3695Leu) c.10784G>T (p.Arg3595Leu) c.8048G>T (p.Arg2683Leu) c.6941G>T (p.Arg2314Leu) c.10967G>T (p.Arg3656Leu) c.6719G>T (p.Arg2240Leu) c.9947G>T (p.Arg3316Leu) | gnomAD v4 |
| 8 | g.99861819G>A | CA462338056 | VPS13B | c.*257G>A (n.*257G>A) n.11233G>A c.*6845G>A (n.*6845G>A) c.11088G>A (p.Arg3696=) c.11163G>A (p.Arg3721=) c.11160G>A (p.Arg3720=) c.11085G>A (p.Arg3695=) c.10785G>A (p.Arg3595=) c.8049G>A (p.Arg2683=) c.6942G>A (p.Arg2314=) c.10968G>A (p.Arg3656=) c.6720G>A (p.Arg2240=) c.9948G>A (p.Arg3316=) | gnomAD v4 |
| 8 | g.99861819G>C | CA462338057 | VPS13B | c.*257G>C (n.*257G>C) n.11233G>C c.*6845G>C (n.*6845G>C) c.11088G>C (p.Arg3696=) c.11163G>C (p.Arg3721=) c.11160G>C (p.Arg3720=) c.11085G>C (p.Arg3695=) c.10785G>C (p.Arg3595=) c.8049G>C (p.Arg2683=) c.6942G>C (p.Arg2314=) c.10968G>C (p.Arg3656=) c.6720G>C (p.Arg2240=) c.9948G>C (p.Arg3316=) | |
| 8 | g.99861819G>T | CA462338058 | VPS13B | c.*257G>T (n.*257G>T) n.11233G>T c.*6845G>T (n.*6845G>T) c.11088G>T (p.Arg3696=) c.11163G>T (p.Arg3721=) c.11160G>T (p.Arg3720=) c.11085G>T (p.Arg3695=) c.10785G>T (p.Arg3595=) c.8049G>T (p.Arg2683=) c.6942G>T (p.Arg2314=) c.10968G>T (p.Arg3656=) c.6720G>T (p.Arg2240=) c.9948G>T (p.Arg3316=) | gnomAD v4 COSMIC COSMIC |
| 8 | g.99861820A>C | CA371790354 | VPS13B | c.*258A>C (n.*258A>C) n.11234A>C c.*6846A>C (n.*6846A>C) c.11089A>C (p.Asn3697His) c.11164A>C (p.Asn3722His) c.11161A>C (p.Asn3721His) c.11086A>C (p.Asn3696His) c.10786A>C (p.Asn3596His) c.8050A>C (p.Asn2684His) c.6943A>C (p.Asn2315His) c.10969A>C (p.Asn3657His) c.6721A>C (p.Asn2241His) c.9949A>C (p.Asn3317His) | |
| 8 | g.99861820A>G | CA371790356 | VPS13B | c.*258A>G (n.*258A>G) n.11234A>G c.*6846A>G (n.*6846A>G) c.11089A>G (p.Asn3697Asp) c.11164A>G (p.Asn3722Asp) c.11161A>G (p.Asn3721Asp) c.11086A>G (p.Asn3696Asp) c.10786A>G (p.Asn3596Asp) c.8050A>G (p.Asn2684Asp) c.6943A>G (p.Asn2315Asp) c.10969A>G (p.Asn3657Asp) c.6721A>G (p.Asn2241Asp) c.9949A>G (p.Asn3317Asp) | |
| 8 | g.99861820A>T | CA371790359 | VPS13B | c.*258A>T (n.*258A>T) n.11234A>T c.*6846A>T (n.*6846A>T) c.11089A>T (p.Asn3697Tyr) c.11164A>T (p.Asn3722Tyr) c.11161A>T (p.Asn3721Tyr) c.11086A>T (p.Asn3696Tyr) c.10786A>T (p.Asn3596Tyr) c.8050A>T (p.Asn2684Tyr) c.6943A>T (p.Asn2315Tyr) c.10969A>T (p.Asn3657Tyr) c.6721A>T (p.Asn2241Tyr) c.9949A>T (p.Asn3317Tyr) | |
| 8 | g.99861821A>C | CA371790360 | VPS13B | c.*259A>C (n.*259A>C) n.11235A>C c.*6847A>C (n.*6847A>C) c.11090A>C (p.Asn3697Thr) c.11165A>C (p.Asn3722Thr) c.11162A>C (p.Asn3721Thr) c.11087A>C (p.Asn3696Thr) c.10787A>C (p.Asn3596Thr) c.8051A>C (p.Asn2684Thr) c.6944A>C (p.Asn2315Thr) c.10970A>C (p.Asn3657Thr) c.6722A>C (p.Asn2241Thr) c.9950A>C (p.Asn3317Thr) | |
| 8 | g.99861821A>G | CA371790362 | VPS13B | c.*259A>G (n.*259A>G) n.11235A>G c.*6847A>G (n.*6847A>G) c.11090A>G (p.Asn3697Ser) c.11165A>G (p.Asn3722Ser) c.11162A>G (p.Asn3721Ser) c.11087A>G (p.Asn3696Ser) c.10787A>G (p.Asn3596Ser) c.8051A>G (p.Asn2684Ser) c.6944A>G (p.Asn2315Ser) c.10970A>G (p.Asn3657Ser) c.6722A>G (p.Asn2241Ser) c.9950A>G (p.Asn3317Ser) | gnomAD v4 |
| 8 | g.99861821A>T | CA371790364 | VPS13B | c.*259A>T (n.*259A>T) n.11235A>T c.*6847A>T (n.*6847A>T) c.11090A>T (p.Asn3697Ile) c.11165A>T (p.Asn3722Ile) c.11162A>T (p.Asn3721Ile) c.11087A>T (p.Asn3696Ile) c.10787A>T (p.Asn3596Ile) c.8051A>T (p.Asn2684Ile) c.6944A>T (p.Asn2315Ile) c.10970A>T (p.Asn3657Ile) c.6722A>T (p.Asn2241Ile) c.9950A>T (p.Asn3317Ile) | |
| 8 | g.99861822C>A | CA371790367 | VPS13B | c.*260C>A (n.*260C>A) n.11236C>A c.*6848C>A (n.*6848C>A) c.11091C>A (p.Asn3697Lys) c.11166C>A (p.Asn3722Lys) c.11163C>A (p.Asn3721Lys) c.11088C>A (p.Asn3696Lys) c.10788C>A (p.Asn3596Lys) c.8052C>A (p.Asn2684Lys) c.6945C>A (p.Asn2315Lys) c.10971C>A (p.Asn3657Lys) c.6723C>A (p.Asn2241Lys) c.9951C>A (p.Asn3317Lys) | gnomAD v4 |
| 8 | g.99861822C>G | CA371790368 | VPS13B | c.*260C>G (n.*260C>G) n.11236C>G c.*6848C>G (n.*6848C>G) c.11091C>G (p.Asn3697Lys) c.11166C>G (p.Asn3722Lys) c.11163C>G (p.Asn3721Lys) c.11088C>G (p.Asn3696Lys) c.10788C>G (p.Asn3596Lys) c.8052C>G (p.Asn2684Lys) c.6945C>G (p.Asn2315Lys) c.10971C>G (p.Asn3657Lys) c.6723C>G (p.Asn2241Lys) c.9951C>G (p.Asn3317Lys) | |
| 8 | g.99861822C>T | CA462338059 | VPS13B | c.*260C>T (n.*260C>T) n.11236C>T c.*6848C>T (n.*6848C>T) c.11091C>T (p.Asn3697=) c.11166C>T (p.Asn3722=) c.11163C>T (p.Asn3721=) c.11088C>T (p.Asn3696=) c.10788C>T (p.Asn3596=) c.8052C>T (p.Asn2684=) c.6945C>T (p.Asn2315=) c.10971C>T (p.Asn3657=) c.6723C>T (p.Asn2241=) c.9951C>T (p.Asn3317=) | |
| 8 | g.99861823A>C | CA371790371 | VPS13B | c.*261A>C (n.*261A>C) n.11237A>C c.*6849A>C (n.*6849A>C) c.11092A>C (p.Met3698Leu) c.11167A>C (p.Met3723Leu) c.11164A>C (p.Met3722Leu) c.11089A>C (p.Met3697Leu) c.10789A>C (p.Met3597Leu) c.8053A>C (p.Met2685Leu) c.6946A>C (p.Met2316Leu) c.10972A>C (p.Met3658Leu) c.6724A>C (p.Met2242Leu) c.9952A>C (p.Met3318Leu) | |
| 8 | g.99861823A>G | CA371790375 | VPS13B | c.*261A>G (n.*261A>G) n.11237A>G c.*6849A>G (n.*6849A>G) c.11092A>G (p.Met3698Val) c.11167A>G (p.Met3723Val) c.11164A>G (p.Met3722Val) c.11089A>G (p.Met3697Val) c.10789A>G (p.Met3597Val) c.8053A>G (p.Met2685Val) c.6946A>G (p.Met2316Val) c.10972A>G (p.Met3658Val) c.6724A>G (p.Met2242Val) c.9952A>G (p.Met3318Val) | gnomAD v4 |
| 8 | g.99861823A>T | CA371790373 | VPS13B | c.*261A>T (n.*261A>T) n.11237A>T c.*6849A>T (n.*6849A>T) c.11092A>T (p.Met3698Leu) c.11167A>T (p.Met3723Leu) c.11164A>T (p.Met3722Leu) c.11089A>T (p.Met3697Leu) c.10789A>T (p.Met3597Leu) c.8053A>T (p.Met2685Leu) c.6946A>T (p.Met2316Leu) c.10972A>T (p.Met3658Leu) c.6724A>T (p.Met2242Leu) c.9952A>T (p.Met3318Leu) | |
| 8 | g.99861824T>A | CA371790377 | VPS13B | c.*262T>A (n.*262T>A) n.11238T>A c.*6850T>A (n.*6850T>A) c.11093T>A (p.Met3698Lys) c.11168T>A (p.Met3723Lys) c.11165T>A (p.Met3722Lys) c.11090T>A (p.Met3697Lys) c.10790T>A (p.Met3597Lys) c.8054T>A (p.Met2685Lys) c.6947T>A (p.Met2316Lys) c.10973T>A (p.Met3658Lys) c.6725T>A (p.Met2242Lys) c.9953T>A (p.Met3318Lys) | |
| 8 | g.99861824T>C | CA371790378 | VPS13B | c.*262T>C (n.*262T>C) n.11238T>C c.*6850T>C (n.*6850T>C) c.11093T>C (p.Met3698Thr) c.11168T>C (p.Met3723Thr) c.11165T>C (p.Met3722Thr) c.11090T>C (p.Met3697Thr) c.10790T>C (p.Met3597Thr) c.8054T>C (p.Met2685Thr) c.6947T>C (p.Met2316Thr) c.10973T>C (p.Met3658Thr) c.6725T>C (p.Met2242Thr) c.9953T>C (p.Met3318Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99861824T>G | CA371790380 | VPS13B | c.*262T>G (n.*262T>G) n.11238T>G c.*6850T>G (n.*6850T>G) c.11093T>G (p.Met3698Arg) c.11168T>G (p.Met3723Arg) c.11165T>G (p.Met3722Arg) c.11090T>G (p.Met3697Arg) c.10790T>G (p.Met3597Arg) c.8054T>G (p.Met2685Arg) c.6947T>G (p.Met2316Arg) c.10973T>G (p.Met3658Arg) c.6725T>G (p.Met2242Arg) c.9953T>G (p.Met3318Arg) | |
| 8 | g.99861825G>A | CA371790383 | VPS13B | c.*263G>A (n.*263G>A) n.11239G>A c.*6851G>A (n.*6851G>A) c.11094G>A (p.Met3698Ile) c.11169G>A (p.Met3723Ile) c.11166G>A (p.Met3722Ile) c.11091G>A (p.Met3697Ile) c.10791G>A (p.Met3597Ile) c.8055G>A (p.Met2685Ile) c.6948G>A (p.Met2316Ile) c.10974G>A (p.Met3658Ile) c.6726G>A (p.Met2242Ile) c.9954G>A (p.Met3318Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861825G>C | CA371790385 | VPS13B | c.*263G>C (n.*263G>C) n.11239G>C c.*6851G>C (n.*6851G>C) c.11094G>C (p.Met3698Ile) c.11169G>C (p.Met3723Ile) c.11166G>C (p.Met3722Ile) c.11091G>C (p.Met3697Ile) c.10791G>C (p.Met3597Ile) c.8055G>C (p.Met2685Ile) c.6948G>C (p.Met2316Ile) c.10974G>C (p.Met3658Ile) c.6726G>C (p.Met2242Ile) c.9954G>C (p.Met3318Ile) | |
| 8 | g.99861825G>T | CA371790387 | VPS13B | c.*263G>T (n.*263G>T) n.11239G>T c.*6851G>T (n.*6851G>T) c.11094G>T (p.Met3698Ile) c.11169G>T (p.Met3723Ile) c.11166G>T (p.Met3722Ile) c.11091G>T (p.Met3697Ile) c.10791G>T (p.Met3597Ile) c.8055G>T (p.Met2685Ile) c.6948G>T (p.Met2316Ile) c.10974G>T (p.Met3658Ile) c.6726G>T (p.Met2242Ile) c.9954G>T (p.Met3318Ile) | gnomAD v4 |
| 8 | g.99861825_99861828dup | CA264002 | VPS13B | c.*263_*266dup (n.*263_*266dup) n.11239_11242dup c.*6851_*6854dup (n.*6851_*6854dup) c.11094_11097dup (p.Arg3700GlyfsTer7) c.11169_11172dup (p.Arg3725GlyfsTer7) c.11166_11169dup (p.Arg3724GlyfsTer7) c.11091_11094dup (p.Arg3699GlyfsTer7) c.10791_10794dup (p.Arg3599GlyfsTer7) c.8055_8058dup (p.Arg2687GlyfsTer7) c.6948_6951dup (p.Arg2318GlyfsTer7) c.10974_10977dup (p.Arg3660GlyfsTer7) c.6726_6729dup (p.Arg2244GlyfsTer7) c.9954_9957dup (p.Arg3320GlyfsTer7) | ClinVar dbSNP |
| 8 | g.99861826G>A | CA371790390 | VPS13B | c.*264G>A (n.*264G>A) n.11240G>A c.*6852G>A (n.*6852G>A) c.11095G>A (p.Asp3699Asn) c.11170G>A (p.Asp3724Asn) c.11167G>A (p.Asp3723Asn) c.11092G>A (p.Asp3698Asn) c.10792G>A (p.Asp3598Asn) c.8056G>A (p.Asp2686Asn) c.6949G>A (p.Asp2317Asn) c.10975G>A (p.Asp3659Asn) c.6727G>A (p.Asp2243Asn) c.9955G>A (p.Asp3319Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99861826G>C | CA371790392 | VPS13B | c.*264G>C (n.*264G>C) n.11240G>C c.*6852G>C (n.*6852G>C) c.11095G>C (p.Asp3699His) c.11170G>C (p.Asp3724His) c.11167G>C (p.Asp3723His) c.11092G>C (p.Asp3698His) c.10792G>C (p.Asp3598His) c.8056G>C (p.Asp2686His) c.6949G>C (p.Asp2317His) c.10975G>C (p.Asp3659His) c.6727G>C (p.Asp2243His) c.9955G>C (p.Asp3319His) | |
| 8 | g.99861826G>T | CA371790394 | VPS13B | c.*264G>T (n.*264G>T) n.11240G>T c.*6852G>T (n.*6852G>T) c.11095G>T (p.Asp3699Tyr) c.11170G>T (p.Asp3724Tyr) c.11167G>T (p.Asp3723Tyr) c.11092G>T (p.Asp3698Tyr) c.10792G>T (p.Asp3598Tyr) c.8056G>T (p.Asp2686Tyr) c.6949G>T (p.Asp2317Tyr) c.10975G>T (p.Asp3659Tyr) c.6727G>T (p.Asp2243Tyr) c.9955G>T (p.Asp3319Tyr) | gnomAD v4 |
| 8 | g.99861827A>C | CA371790401 | VPS13B | c.*265A>C (n.*265A>C) n.11241A>C c.*6853A>C (n.*6853A>C) c.11096A>C (p.Asp3699Ala) c.11171A>C (p.Asp3724Ala) c.11168A>C (p.Asp3723Ala) c.11093A>C (p.Asp3698Ala) c.10793A>C (p.Asp3598Ala) c.8057A>C (p.Asp2686Ala) c.6950A>C (p.Asp2317Ala) c.10976A>C (p.Asp3659Ala) c.6728A>C (p.Asp2243Ala) c.9956A>C (p.Asp3319Ala) | |
| 8 | g.99861827A>G | CA371790398 | VPS13B | c.*265A>G (n.*265A>G) n.11241A>G c.*6853A>G (n.*6853A>G) c.11096A>G (p.Asp3699Gly) c.11171A>G (p.Asp3724Gly) c.11168A>G (p.Asp3723Gly) c.11093A>G (p.Asp3698Gly) c.10793A>G (p.Asp3598Gly) c.8057A>G (p.Asp2686Gly) c.6950A>G (p.Asp2317Gly) c.10976A>G (p.Asp3659Gly) c.6728A>G (p.Asp2243Gly) c.9956A>G (p.Asp3319Gly) | |
| 8 | g.99861827A>T | CA371790396 | VPS13B | c.*265A>T (n.*265A>T) n.11241A>T c.*6853A>T (n.*6853A>T) c.11096A>T (p.Asp3699Val) c.11171A>T (p.Asp3724Val) c.11168A>T (p.Asp3723Val) c.11093A>T (p.Asp3698Val) c.10793A>T (p.Asp3598Val) c.8057A>T (p.Asp2686Val) c.6950A>T (p.Asp2317Val) c.10976A>T (p.Asp3659Val) c.6728A>T (p.Asp2243Val) c.9956A>T (p.Asp3319Val) | |
| 8 | g.99861828C>A | CA371790403 | VPS13B | c.*266C>A (n.*266C>A) n.11242C>A c.*6854C>A (n.*6854C>A) c.11097C>A (p.Asp3699Glu) c.11172C>A (p.Asp3724Glu) c.11169C>A (p.Asp3723Glu) c.11094C>A (p.Asp3698Glu) c.10794C>A (p.Asp3598Glu) c.8058C>A (p.Asp2686Glu) c.6951C>A (p.Asp2317Glu) c.10977C>A (p.Asp3659Glu) c.6729C>A (p.Asp2243Glu) c.9957C>A (p.Asp3319Glu) | gnomAD v4 |
| 8 | g.99861828C>G | CA371790405 | VPS13B | c.*266C>G (n.*266C>G) n.11242C>G c.*6854C>G (n.*6854C>G) c.11097C>G (p.Asp3699Glu) c.11172C>G (p.Asp3724Glu) c.11169C>G (p.Asp3723Glu) c.11094C>G (p.Asp3698Glu) c.10794C>G (p.Asp3598Glu) c.8058C>G (p.Asp2686Glu) c.6951C>G (p.Asp2317Glu) c.10977C>G (p.Asp3659Glu) c.6729C>G (p.Asp2243Glu) c.9957C>G (p.Asp3319Glu) | |
| 8 | g.99861828C>T | CA462338060 | VPS13B | c.*266C>T (n.*266C>T) n.11242C>T c.*6854C>T (n.*6854C>T) c.11097C>T (p.Asp3699=) c.11172C>T (p.Asp3724=) c.11169C>T (p.Asp3723=) c.11094C>T (p.Asp3698=) c.10794C>T (p.Asp3598=) c.8058C>T (p.Asp2686=) c.6951C>T (p.Asp2317=) c.10977C>T (p.Asp3659=) c.6729C>T (p.Asp2243=) c.9957C>T (p.Asp3319=) | ClinVar |
| 8 | g.99861829del | CA4825142 | VPS13B | c.*267del (n.*267del) n.11243del c.*6855del (n.*6855del) c.11098del (p.Arg3700GlyfsTer?) c.11173del (p.Arg3725GlyfsTer?) c.11170del (p.Arg3724GlyfsTer?) c.11095del (p.Arg3699GlyfsTer?) c.10795del (p.Arg3599GlyfsTer?) c.8059del (p.Arg2687GlyfsTer?) c.6952del (p.Arg2318GlyfsTer?) c.10978del (p.Arg3660GlyfsTer?) c.6730del (p.Arg2244GlyfsTer?) c.9958del (p.Arg3320GlyfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99861829C>A | CA462338061 | VPS13B | c.*267C>A (n.*267C>A) n.11243C>A c.*6855C>A (n.*6855C>A) c.11098C>A (p.Arg3700=) c.11173C>A (p.Arg3725=) c.11170C>A (p.Arg3724=) c.11095C>A (p.Arg3699=) c.10795C>A (p.Arg3599=) c.8059C>A (p.Arg2687=) c.6952C>A (p.Arg2318=) c.10978C>A (p.Arg3660=) c.6730C>A (p.Arg2244=) c.9958C>A (p.Arg3320=) | gnomAD v4 |
| 8 | g.99861829C>G | CA371790409 | VPS13B | c.*267C>G (n.*267C>G) n.11243C>G c.*6855C>G (n.*6855C>G) c.11098C>G (p.Arg3700Gly) c.11173C>G (p.Arg3725Gly) c.11170C>G (p.Arg3724Gly) c.11095C>G (p.Arg3699Gly) c.10795C>G (p.Arg3599Gly) c.8059C>G (p.Arg2687Gly) c.6952C>G (p.Arg2318Gly) c.10978C>G (p.Arg3660Gly) c.6730C>G (p.Arg2244Gly) c.9958C>G (p.Arg3320Gly) | |
| 8 | g.99861829C>T | CA4825143 | VPS13B | c.*267C>T (n.*267C>T) n.11243C>T c.*6855C>T (n.*6855C>T) c.11098C>T (p.Arg3700Trp) c.11173C>T (p.Arg3725Trp) c.11170C>T (p.Arg3724Trp) c.11095C>T (p.Arg3699Trp) c.10795C>T (p.Arg3599Trp) c.8059C>T (p.Arg2687Trp) c.6952C>T (p.Arg2318Trp) c.10978C>T (p.Arg3660Trp) c.6730C>T (p.Arg2244Trp) c.9958C>T (p.Arg3320Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99861830G>A | CA4825144 | VPS13B | c.*268G>A (n.*268G>A) n.11244G>A c.*6856G>A (n.*6856G>A) c.11099G>A (p.Arg3700Gln) c.11174G>A (p.Arg3725Gln) c.11171G>A (p.Arg3724Gln) c.11096G>A (p.Arg3699Gln) c.10796G>A (p.Arg3599Gln) c.8060G>A (p.Arg2687Gln) c.6953G>A (p.Arg2318Gln) c.10979G>A (p.Arg3660Gln) c.6731G>A (p.Arg2244Gln) c.9959G>A (p.Arg3320Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.99861830G>C | CA371790413 | VPS13B | c.*268G>C (n.*268G>C) n.11244G>C c.*6856G>C (n.*6856G>C) c.11099G>C (p.Arg3700Pro) c.11174G>C (p.Arg3725Pro) c.11171G>C (p.Arg3724Pro) c.11096G>C (p.Arg3699Pro) c.10796G>C (p.Arg3599Pro) c.8060G>C (p.Arg2687Pro) c.6953G>C (p.Arg2318Pro) c.10979G>C (p.Arg3660Pro) c.6731G>C (p.Arg2244Pro) c.9959G>C (p.Arg3320Pro) | |
| 8 | g.99861830G>T | CA371790411 | VPS13B | c.*268G>T (n.*268G>T) n.11244G>T c.*6856G>T (n.*6856G>T) c.11099G>T (p.Arg3700Leu) c.11174G>T (p.Arg3725Leu) c.11171G>T (p.Arg3724Leu) c.11096G>T (p.Arg3699Leu) c.10796G>T (p.Arg3599Leu) c.8060G>T (p.Arg2687Leu) c.6953G>T (p.Arg2318Leu) c.10979G>T (p.Arg3660Leu) c.6731G>T (p.Arg2244Leu) c.9959G>T (p.Arg3320Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.99861831G>A | CA462338062 | VPS13B | c.*269G>A (n.*269G>A) n.11245G>A c.*6857G>A (n.*6857G>A) c.11100G>A (p.Arg3700=) c.11175G>A (p.Arg3725=) c.11172G>A (p.Arg3724=) c.11097G>A (p.Arg3699=) c.10797G>A (p.Arg3599=) c.8061G>A (p.Arg2687=) c.6954G>A (p.Arg2318=) c.10980G>A (p.Arg3660=) c.6732G>A (p.Arg2244=) c.9960G>A (p.Arg3320=) | gnomAD v4 |
| 8 | g.99861831G>C | CA462338063 | VPS13B | c.*269G>C (n.*269G>C) n.11245G>C c.*6857G>C (n.*6857G>C) c.11100G>C (p.Arg3700=) c.11175G>C (p.Arg3725=) c.11172G>C (p.Arg3724=) c.11097G>C (p.Arg3699=) c.10797G>C (p.Arg3599=) c.8061G>C (p.Arg2687=) c.6954G>C (p.Arg2318=) c.10980G>C (p.Arg3660=) c.6732G>C (p.Arg2244=) c.9960G>C (p.Arg3320=) | |
| 8 | g.99861831G>T | CA462338064 | VPS13B | c.*269G>T (n.*269G>T) n.11245G>T c.*6857G>T (n.*6857G>T) c.11100G>T (p.Arg3700=) c.11175G>T (p.Arg3725=) c.11172G>T (p.Arg3724=) c.11097G>T (p.Arg3699=) c.10797G>T (p.Arg3599=) c.8061G>T (p.Arg2687=) c.6954G>T (p.Arg2318=) c.10980G>T (p.Arg3660=) c.6732G>T (p.Arg2244=) c.9960G>T (p.Arg3320=) | gnomAD v4 |