WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.99853495T>A | CA371780799 | VPS13B | c.10181T>A (p.Leu3394Ter) n.10251T>A c.*5863T>A (n.*5863T>A) c.10106T>A (p.Leu3369Ter) c.10178T>A (p.Leu3393Ter) c.10103T>A (p.Leu3368Ter) c.9803T>A (p.Leu3268Ter) c.7067T>A (p.Leu2356Ter) c.5960T>A (p.Leu1987Ter) c.9986T>A (p.Leu3329Ter) c.5738T>A (p.Leu1913Ter) c.8966T>A (p.Leu2989Ter) | |
| 8 | g.99853495T>C | CA371780800 | VPS13B | c.10181T>C (p.Leu3394Ser) n.10251T>C c.*5863T>C (n.*5863T>C) c.10106T>C (p.Leu3369Ser) c.10178T>C (p.Leu3393Ser) c.10103T>C (p.Leu3368Ser) c.9803T>C (p.Leu3268Ser) c.7067T>C (p.Leu2356Ser) c.5960T>C (p.Leu1987Ser) c.9986T>C (p.Leu3329Ser) c.5738T>C (p.Leu1913Ser) c.8966T>C (p.Leu2989Ser) | |
| 8 | g.99853495T>G | CA16041269 | VPS13B | c.10181T>G (p.Leu3394Ter) n.10251T>G c.*5863T>G (n.*5863T>G) c.10106T>G (p.Leu3369Ter) c.10178T>G (p.Leu3393Ter) c.10103T>G (p.Leu3368Ter) c.9803T>G (p.Leu3268Ter) c.7067T>G (p.Leu2356Ter) c.5960T>G (p.Leu1987Ter) c.9986T>G (p.Leu3329Ter) c.5738T>G (p.Leu1913Ter) c.8966T>G (p.Leu2989Ter) | ClinVar dbSNP |
| 8 | g.99853496A>C | CA371780801 | VPS13B | c.10182A>C (p.Leu3394Phe) n.10252A>C c.*5864A>C (n.*5864A>C) c.10107A>C (p.Leu3369Phe) c.10179A>C (p.Leu3393Phe) c.10104A>C (p.Leu3368Phe) c.9804A>C (p.Leu3268Phe) c.7068A>C (p.Leu2356Phe) c.5961A>C (p.Leu1987Phe) c.9987A>C (p.Leu3329Phe) c.5739A>C (p.Leu1913Phe) c.8967A>C (p.Leu2989Phe) | gnomAD v4 |
| 8 | g.99853496A>G | CA462458021 | VPS13B | c.10182A>G (p.Leu3394=) n.10252A>G c.*5864A>G (n.*5864A>G) c.10107A>G (p.Leu3369=) c.10179A>G (p.Leu3393=) c.10104A>G (p.Leu3368=) c.9804A>G (p.Leu3268=) c.7068A>G (p.Leu2356=) c.5961A>G (p.Leu1987=) c.9987A>G (p.Leu3329=) c.5739A>G (p.Leu1913=) c.8967A>G (p.Leu2989=) | |
| 8 | g.99853496A>T | CA371780802 | VPS13B | c.10182A>T (p.Leu3394Phe) n.10252A>T c.*5864A>T (n.*5864A>T) c.10107A>T (p.Leu3369Phe) c.10179A>T (p.Leu3393Phe) c.10104A>T (p.Leu3368Phe) c.9804A>T (p.Leu3268Phe) c.7068A>T (p.Leu2356Phe) c.5961A>T (p.Leu1987Phe) c.9987A>T (p.Leu3329Phe) c.5739A>T (p.Leu1913Phe) c.8967A>T (p.Leu2989Phe) | |
| 8 | g.99853497A>C | CA371780803 | VPS13B | c.10183A>C (p.Ser3395Arg) n.10253A>C c.*5865A>C (n.*5865A>C) c.10108A>C (p.Ser3370Arg) c.10180A>C (p.Ser3394Arg) c.10105A>C (p.Ser3369Arg) c.9805A>C (p.Ser3269Arg) c.7069A>C (p.Ser2357Arg) c.5962A>C (p.Ser1988Arg) c.9988A>C (p.Ser3330Arg) c.5740A>C (p.Ser1914Arg) c.8968A>C (p.Ser2990Arg) | |
| 8 | g.99853497A>G | CA371780804 | VPS13B | c.10183A>G (p.Ser3395Gly) n.10253A>G c.*5865A>G (n.*5865A>G) c.10108A>G (p.Ser3370Gly) c.10180A>G (p.Ser3394Gly) c.10105A>G (p.Ser3369Gly) c.9805A>G (p.Ser3269Gly) c.7069A>G (p.Ser2357Gly) c.5962A>G (p.Ser1988Gly) c.9988A>G (p.Ser3330Gly) c.5740A>G (p.Ser1914Gly) c.8968A>G (p.Ser2990Gly) | |
| 8 | g.99853497A>T | CA371780805 | VPS13B | c.10183A>T (p.Ser3395Cys) n.10253A>T c.*5865A>T (n.*5865A>T) c.10108A>T (p.Ser3370Cys) c.10180A>T (p.Ser3394Cys) c.10105A>T (p.Ser3369Cys) c.9805A>T (p.Ser3269Cys) c.7069A>T (p.Ser2357Cys) c.5962A>T (p.Ser1988Cys) c.9988A>T (p.Ser3330Cys) c.5740A>T (p.Ser1914Cys) c.8968A>T (p.Ser2990Cys) | gnomAD v4 |
| 8 | g.99853498G>A | CA371780806 | VPS13B | c.10184G>A (p.Ser3395Asn) n.10254G>A c.*5866G>A (n.*5866G>A) c.10109G>A (p.Ser3370Asn) c.10181G>A (p.Ser3394Asn) c.10106G>A (p.Ser3369Asn) c.9806G>A (p.Ser3269Asn) c.7070G>A (p.Ser2357Asn) c.5963G>A (p.Ser1988Asn) c.9989G>A (p.Ser3330Asn) c.5741G>A (p.Ser1914Asn) c.8969G>A (p.Ser2990Asn) | |
| 8 | g.99853498G>C | CA371780807 | VPS13B | c.10184G>C (p.Ser3395Thr) n.10254G>C c.*5866G>C (n.*5866G>C) c.10109G>C (p.Ser3370Thr) c.10181G>C (p.Ser3394Thr) c.10106G>C (p.Ser3369Thr) c.9806G>C (p.Ser3269Thr) c.7070G>C (p.Ser2357Thr) c.5963G>C (p.Ser1988Thr) c.9989G>C (p.Ser3330Thr) c.5741G>C (p.Ser1914Thr) c.8969G>C (p.Ser2990Thr) | |
| 8 | g.99853498G>T | CA371780808 | VPS13B | c.10184G>T (p.Ser3395Ile) n.10254G>T c.*5866G>T (n.*5866G>T) c.10109G>T (p.Ser3370Ile) c.10181G>T (p.Ser3394Ile) c.10106G>T (p.Ser3369Ile) c.9806G>T (p.Ser3269Ile) c.7070G>T (p.Ser2357Ile) c.5963G>T (p.Ser1988Ile) c.9989G>T (p.Ser3330Ile) c.5741G>T (p.Ser1914Ile) c.8969G>T (p.Ser2990Ile) | |
| 8 | g.99853499C>A | CA371780809 | VPS13B | c.10185C>A (p.Ser3395Arg) n.10255C>A c.*5867C>A (n.*5867C>A) c.10110C>A (p.Ser3370Arg) c.10182C>A (p.Ser3394Arg) c.10107C>A (p.Ser3369Arg) c.9807C>A (p.Ser3269Arg) c.7071C>A (p.Ser2357Arg) c.5964C>A (p.Ser1988Arg) c.9990C>A (p.Ser3330Arg) c.5742C>A (p.Ser1914Arg) c.8970C>A (p.Ser2990Arg) | |
| 8 | g.99853499C>G | CA4824890 | VPS13B | c.10185C>G (p.Ser3395Arg) n.10255C>G c.*5867C>G (n.*5867C>G) c.10110C>G (p.Ser3370Arg) c.10182C>G (p.Ser3394Arg) c.10107C>G (p.Ser3369Arg) c.9807C>G (p.Ser3269Arg) c.7071C>G (p.Ser2357Arg) c.5964C>G (p.Ser1988Arg) c.9990C>G (p.Ser3330Arg) c.5742C>G (p.Ser1914Arg) c.8970C>G (p.Ser2990Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99853499C>T | CA4824889 | VPS13B | c.10185C>T (p.Ser3395=) n.10255C>T c.*5867C>T (n.*5867C>T) c.10110C>T (p.Ser3370=) c.10182C>T (p.Ser3394=) c.10107C>T (p.Ser3369=) c.9807C>T (p.Ser3269=) c.7071C>T (p.Ser2357=) c.5964C>T (p.Ser1988=) c.9990C>T (p.Ser3330=) c.5742C>T (p.Ser1914=) c.8970C>T (p.Ser2990=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.99853500C>A | CA371780810 | VPS13B | c.10186C>A (p.Leu3396Met) n.10256C>A c.*5868C>A (n.*5868C>A) c.10111C>A (p.Leu3371Met) c.10183C>A (p.Leu3395Met) c.10108C>A (p.Leu3370Met) c.9808C>A (p.Leu3270Met) c.7072C>A (p.Leu2358Met) c.5965C>A (p.Leu1989Met) c.9991C>A (p.Leu3331Met) c.5743C>A (p.Leu1915Met) c.8971C>A (p.Leu2991Met) | |
| 8 | g.99853500C>G | CA371780811 | VPS13B | c.10186C>G (p.Leu3396Val) n.10256C>G c.*5868C>G (n.*5868C>G) c.10111C>G (p.Leu3371Val) c.10183C>G (p.Leu3395Val) c.10108C>G (p.Leu3370Val) c.9808C>G (p.Leu3270Val) c.7072C>G (p.Leu2358Val) c.5965C>G (p.Leu1989Val) c.9991C>G (p.Leu3331Val) c.5743C>G (p.Leu1915Val) c.8971C>G (p.Leu2991Val) | |
| 8 | g.99853500C>T | CA462458046 | VPS13B | c.10186C>T (p.Leu3396=) n.10256C>T c.*5868C>T (n.*5868C>T) c.10111C>T (p.Leu3371=) c.10183C>T (p.Leu3395=) c.10108C>T (p.Leu3370=) c.9808C>T (p.Leu3270=) c.7072C>T (p.Leu2358=) c.5965C>T (p.Leu1989=) c.9991C>T (p.Leu3331=) c.5743C>T (p.Leu1915=) c.8971C>T (p.Leu2991=) | |
| 8 | g.99853501T>A | CA371780812 | VPS13B | c.10187T>A (p.Leu3396Gln) n.10257T>A c.*5869T>A (n.*5869T>A) c.10112T>A (p.Leu3371Gln) c.10184T>A (p.Leu3395Gln) c.10109T>A (p.Leu3370Gln) c.9809T>A (p.Leu3270Gln) c.7073T>A (p.Leu2358Gln) c.5966T>A (p.Leu1989Gln) c.9992T>A (p.Leu3331Gln) c.5744T>A (p.Leu1915Gln) c.8972T>A (p.Leu2991Gln) | |
| 8 | g.99853501T>C | CA371780813 | VPS13B | c.10187T>C (p.Leu3396Pro) n.10257T>C c.*5869T>C (n.*5869T>C) c.10112T>C (p.Leu3371Pro) c.10184T>C (p.Leu3395Pro) c.10109T>C (p.Leu3370Pro) c.9809T>C (p.Leu3270Pro) c.7073T>C (p.Leu2358Pro) c.5966T>C (p.Leu1989Pro) c.9992T>C (p.Leu3331Pro) c.5744T>C (p.Leu1915Pro) c.8972T>C (p.Leu2991Pro) | |
| 8 | g.99853501T>G | CA371780814 | VPS13B | c.10187T>G (p.Leu3396Arg) n.10257T>G c.*5869T>G (n.*5869T>G) c.10112T>G (p.Leu3371Arg) c.10184T>G (p.Leu3395Arg) c.10109T>G (p.Leu3370Arg) c.9809T>G (p.Leu3270Arg) c.7073T>G (p.Leu2358Arg) c.5966T>G (p.Leu1989Arg) c.9992T>G (p.Leu3331Arg) c.5744T>G (p.Leu1915Arg) c.8972T>G (p.Leu2991Arg) | |
| 8 | g.99853502G>A | CA462458047 | VPS13B | c.10188G>A (p.Leu3396=) n.10258G>A c.*5870G>A (n.*5870G>A) c.10113G>A (p.Leu3371=) c.10185G>A (p.Leu3395=) c.10110G>A (p.Leu3370=) c.9810G>A (p.Leu3270=) c.7074G>A (p.Leu2358=) c.5967G>A (p.Leu1989=) c.9993G>A (p.Leu3331=) c.5745G>A (p.Leu1915=) c.8973G>A (p.Leu2991=) | dbSNP |
| 8 | g.99853502G>C | CA462458048 | VPS13B | c.10188G>C (p.Leu3396=) n.10258G>C c.*5870G>C (n.*5870G>C) c.10113G>C (p.Leu3371=) c.10185G>C (p.Leu3395=) c.10110G>C (p.Leu3370=) c.9810G>C (p.Leu3270=) c.7074G>C (p.Leu2358=) c.5967G>C (p.Leu1989=) c.9993G>C (p.Leu3331=) c.5745G>C (p.Leu1915=) c.8973G>C (p.Leu2991=) | |
| 8 | g.99853502G>T | CA462458049 | VPS13B | c.10188G>T (p.Leu3396=) n.10258G>T c.*5870G>T (n.*5870G>T) c.10113G>T (p.Leu3371=) c.10185G>T (p.Leu3395=) c.10110G>T (p.Leu3370=) c.9810G>T (p.Leu3270=) c.7074G>T (p.Leu2358=) c.5967G>T (p.Leu1989=) c.9993G>T (p.Leu3331=) c.5745G>T (p.Leu1915=) c.8973G>T (p.Leu2991=) | ClinVar |
| 8 | g.99853503G>A | CA371780815 | VPS13B | c.10189G>A (p.Ala3397Thr) n.10259G>A c.*5871G>A (n.*5871G>A) c.10114G>A (p.Ala3372Thr) c.10186G>A (p.Ala3396Thr) c.10111G>A (p.Ala3371Thr) c.9811G>A (p.Ala3271Thr) c.7075G>A (p.Ala2359Thr) c.5968G>A (p.Ala1990Thr) c.9994G>A (p.Ala3332Thr) c.5746G>A (p.Ala1916Thr) c.8974G>A (p.Ala2992Thr) | gnomAD v4 |
| 8 | g.99853503G>C | CA371780816 | VPS13B | c.10189G>C (p.Ala3397Pro) n.10259G>C c.*5871G>C (n.*5871G>C) c.10114G>C (p.Ala3372Pro) c.10186G>C (p.Ala3396Pro) c.10111G>C (p.Ala3371Pro) c.9811G>C (p.Ala3271Pro) c.7075G>C (p.Ala2359Pro) c.5968G>C (p.Ala1990Pro) c.9994G>C (p.Ala3332Pro) c.5746G>C (p.Ala1916Pro) c.8974G>C (p.Ala2992Pro) | |
| 8 | g.99853503G>T | CA371780817 | VPS13B | c.10189G>T (p.Ala3397Ser) n.10259G>T c.*5871G>T (n.*5871G>T) c.10114G>T (p.Ala3372Ser) c.10186G>T (p.Ala3396Ser) c.10111G>T (p.Ala3371Ser) c.9811G>T (p.Ala3271Ser) c.7075G>T (p.Ala2359Ser) c.5968G>T (p.Ala1990Ser) c.9994G>T (p.Ala3332Ser) c.5746G>T (p.Ala1916Ser) c.8974G>T (p.Ala2992Ser) | |
| 8 | g.99853504C>A | CA371780818 | VPS13B | c.10190C>A (p.Ala3397Glu) n.10260C>A c.*5872C>A (n.*5872C>A) c.10115C>A (p.Ala3372Glu) c.10187C>A (p.Ala3396Glu) c.10112C>A (p.Ala3371Glu) c.9812C>A (p.Ala3271Glu) c.7076C>A (p.Ala2359Glu) c.5969C>A (p.Ala1990Glu) c.9995C>A (p.Ala3332Glu) c.5747C>A (p.Ala1916Glu) c.8975C>A (p.Ala2992Glu) | |
| 8 | g.99853504C>G | CA371780819 | VPS13B | c.10190C>G (p.Ala3397Gly) n.10260C>G c.*5872C>G (n.*5872C>G) c.10115C>G (p.Ala3372Gly) c.10187C>G (p.Ala3396Gly) c.10112C>G (p.Ala3371Gly) c.9812C>G (p.Ala3271Gly) c.7076C>G (p.Ala2359Gly) c.5969C>G (p.Ala1990Gly) c.9995C>G (p.Ala3332Gly) c.5747C>G (p.Ala1916Gly) c.8975C>G (p.Ala2992Gly) | |
| 8 | g.99853504C>T | CA4824891 | VPS13B | c.10190C>T (p.Ala3397Val) n.10260C>T c.*5872C>T (n.*5872C>T) c.10115C>T (p.Ala3372Val) c.10187C>T (p.Ala3396Val) c.10112C>T (p.Ala3371Val) c.9812C>T (p.Ala3271Val) c.7076C>T (p.Ala2359Val) c.5969C>T (p.Ala1990Val) c.9995C>T (p.Ala3332Val) c.5747C>T (p.Ala1916Val) c.8975C>T (p.Ala2992Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99853505A>C | CA462458050 | VPS13B | c.10191A>C (p.Ala3397=) n.10261A>C c.*5873A>C (n.*5873A>C) c.10116A>C (p.Ala3372=) c.10188A>C (p.Ala3396=) c.10113A>C (p.Ala3371=) c.9813A>C (p.Ala3271=) c.7077A>C (p.Ala2359=) c.5970A>C (p.Ala1990=) c.9996A>C (p.Ala3332=) c.5748A>C (p.Ala1916=) c.8976A>C (p.Ala2992=) | |
| 8 | g.99853505A>G | CA4824892 | VPS13B | c.10191A>G (p.Ala3397=) n.10261A>G c.*5873A>G (n.*5873A>G) c.10116A>G (p.Ala3372=) c.10188A>G (p.Ala3396=) c.10113A>G (p.Ala3371=) c.9813A>G (p.Ala3271=) c.7077A>G (p.Ala2359=) c.5970A>G (p.Ala1990=) c.9996A>G (p.Ala3332=) c.5748A>G (p.Ala1916=) c.8976A>G (p.Ala2992=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99853505A>T | CA462458051 | VPS13B | c.10191A>T (p.Ala3397=) n.10261A>T c.*5873A>T (n.*5873A>T) c.10116A>T (p.Ala3372=) c.10188A>T (p.Ala3396=) c.10113A>T (p.Ala3371=) c.9813A>T (p.Ala3271=) c.7077A>T (p.Ala2359=) c.5970A>T (p.Ala1990=) c.9996A>T (p.Ala3332=) c.5748A>T (p.Ala1916=) c.8976A>T (p.Ala2992=) | |
| 8 | g.99853506G>A | CA4824893 | VPS13B | c.10192G>A (p.Val3398Met) n.10262G>A c.*5874G>A (n.*5874G>A) c.10117G>A (p.Val3373Met) c.10189G>A (p.Val3397Met) c.10114G>A (p.Val3372Met) c.9814G>A (p.Val3272Met) c.7078G>A (p.Val2360Met) c.5971G>A (p.Val1991Met) c.9997G>A (p.Val3333Met) c.5749G>A (p.Val1917Met) c.8977G>A (p.Val2993Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99853506G>C | CA371780820 | VPS13B | c.10192G>C (p.Val3398Leu) n.10262G>C c.*5874G>C (n.*5874G>C) c.10117G>C (p.Val3373Leu) c.10189G>C (p.Val3397Leu) c.10114G>C (p.Val3372Leu) c.9814G>C (p.Val3272Leu) c.7078G>C (p.Val2360Leu) c.5971G>C (p.Val1991Leu) c.9997G>C (p.Val3333Leu) c.5749G>C (p.Val1917Leu) c.8977G>C (p.Val2993Leu) | |
| 8 | g.99853506G>T | CA371780821 | VPS13B | c.10192G>T (p.Val3398Leu) n.10262G>T c.*5874G>T (n.*5874G>T) c.10117G>T (p.Val3373Leu) c.10189G>T (p.Val3397Leu) c.10114G>T (p.Val3372Leu) c.9814G>T (p.Val3272Leu) c.7078G>T (p.Val2360Leu) c.5971G>T (p.Val1991Leu) c.9997G>T (p.Val3333Leu) c.5749G>T (p.Val1917Leu) c.8977G>T (p.Val2993Leu) | |
| 8 | g.99853507T>A | CA371780824 | VPS13B | c.10193T>A (p.Val3398Glu) n.10263T>A c.*5875T>A (n.*5875T>A) c.10118T>A (p.Val3373Glu) c.10190T>A (p.Val3397Glu) c.10115T>A (p.Val3372Glu) c.9815T>A (p.Val3272Glu) c.7079T>A (p.Val2360Glu) c.5972T>A (p.Val1991Glu) c.9998T>A (p.Val3333Glu) c.5750T>A (p.Val1917Glu) c.8978T>A (p.Val2993Glu) | |
| 8 | g.99853507T>C | CA371780822 | VPS13B | c.10193T>C (p.Val3398Ala) n.10263T>C c.*5875T>C (n.*5875T>C) c.10118T>C (p.Val3373Ala) c.10190T>C (p.Val3397Ala) c.10115T>C (p.Val3372Ala) c.9815T>C (p.Val3272Ala) c.7079T>C (p.Val2360Ala) c.5972T>C (p.Val1991Ala) c.9998T>C (p.Val3333Ala) c.5750T>C (p.Val1917Ala) c.8978T>C (p.Val2993Ala) | |
| 8 | g.99853507T>G | CA371780823 | VPS13B | c.10193T>G (p.Val3398Gly) n.10263T>G c.*5875T>G (n.*5875T>G) c.10118T>G (p.Val3373Gly) c.10190T>G (p.Val3397Gly) c.10115T>G (p.Val3372Gly) c.9815T>G (p.Val3272Gly) c.7079T>G (p.Val2360Gly) c.5972T>G (p.Val1991Gly) c.9998T>G (p.Val3333Gly) c.5750T>G (p.Val1917Gly) c.8978T>G (p.Val2993Gly) | |
| 8 | g.99853508G>A | CA462458052 | VPS13B | c.10194G>A (p.Val3398=) n.10264G>A c.*5876G>A (n.*5876G>A) c.10119G>A (p.Val3373=) c.10191G>A (p.Val3397=) c.10116G>A (p.Val3372=) c.9816G>A (p.Val3272=) c.7080G>A (p.Val2360=) c.5973G>A (p.Val1991=) c.9999G>A (p.Val3333=) c.5751G>A (p.Val1917=) c.8979G>A (p.Val2993=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99853508G>C | CA462458054 | VPS13B | c.10194G>C (p.Val3398=) n.10264G>C c.*5876G>C (n.*5876G>C) c.10119G>C (p.Val3373=) c.10191G>C (p.Val3397=) c.10116G>C (p.Val3372=) c.9816G>C (p.Val3272=) c.7080G>C (p.Val2360=) c.5973G>C (p.Val1991=) c.9999G>C (p.Val3333=) c.5751G>C (p.Val1917=) c.8979G>C (p.Val2993=) | |
| 8 | g.99853508G>T | CA462458053 | VPS13B | c.10194G>T (p.Val3398=) n.10264G>T c.*5876G>T (n.*5876G>T) c.10119G>T (p.Val3373=) c.10191G>T (p.Val3397=) c.10116G>T (p.Val3372=) c.9816G>T (p.Val3272=) c.7080G>T (p.Val2360=) c.5973G>T (p.Val1991=) c.9999G>T (p.Val3333=) c.5751G>T (p.Val1917=) c.8979G>T (p.Val2993=) | |
| 8 | g.99853509T>A | CA371780825 | VPS13B | c.10195T>A (p.Phe3399Ile) n.10265T>A c.*5877T>A (n.*5877T>A) c.10120T>A (p.Phe3374Ile) c.10192T>A (p.Phe3398Ile) c.10117T>A (p.Phe3373Ile) c.9817T>A (p.Phe3273Ile) c.7081T>A (p.Phe2361Ile) c.5974T>A (p.Phe1992Ile) c.10000T>A (p.Phe3334Ile) c.5752T>A (p.Phe1918Ile) c.8980T>A (p.Phe2994Ile) | |
| 8 | g.99853509T>C | CA371780826 | VPS13B | c.10195T>C (p.Phe3399Leu) n.10265T>C c.*5877T>C (n.*5877T>C) c.10120T>C (p.Phe3374Leu) c.10192T>C (p.Phe3398Leu) c.10117T>C (p.Phe3373Leu) c.9817T>C (p.Phe3273Leu) c.7081T>C (p.Phe2361Leu) c.5974T>C (p.Phe1992Leu) c.10000T>C (p.Phe3334Leu) c.5752T>C (p.Phe1918Leu) c.8980T>C (p.Phe2994Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.99853509T>G | CA371780827 | VPS13B | c.10195T>G (p.Phe3399Val) n.10265T>G c.*5877T>G (n.*5877T>G) c.10120T>G (p.Phe3374Val) c.10192T>G (p.Phe3398Val) c.10117T>G (p.Phe3373Val) c.9817T>G (p.Phe3273Val) c.7081T>G (p.Phe2361Val) c.5974T>G (p.Phe1992Val) c.10000T>G (p.Phe3334Val) c.5752T>G (p.Phe1918Val) c.8980T>G (p.Phe2994Val) | |
| 8 | g.99853510T>A | CA371780828 | VPS13B | c.10196T>A (p.Phe3399Tyr) n.10266T>A c.*5878T>A (n.*5878T>A) c.10121T>A (p.Phe3374Tyr) c.10193T>A (p.Phe3398Tyr) c.10118T>A (p.Phe3373Tyr) c.9818T>A (p.Phe3273Tyr) c.7082T>A (p.Phe2361Tyr) c.5975T>A (p.Phe1992Tyr) c.10001T>A (p.Phe3334Tyr) c.5753T>A (p.Phe1918Tyr) c.8981T>A (p.Phe2994Tyr) | |
| 8 | g.99853510T>C | CA371780829 | VPS13B | c.10196T>C (p.Phe3399Ser) n.10266T>C c.*5878T>C (n.*5878T>C) c.10121T>C (p.Phe3374Ser) c.10193T>C (p.Phe3398Ser) c.10118T>C (p.Phe3373Ser) c.9818T>C (p.Phe3273Ser) c.7082T>C (p.Phe2361Ser) c.5975T>C (p.Phe1992Ser) c.10001T>C (p.Phe3334Ser) c.5753T>C (p.Phe1918Ser) c.8981T>C (p.Phe2994Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99853510T>G | CA371780830 | VPS13B | c.10196T>G (p.Phe3399Cys) n.10266T>G c.*5878T>G (n.*5878T>G) c.10121T>G (p.Phe3374Cys) c.10193T>G (p.Phe3398Cys) c.10118T>G (p.Phe3373Cys) c.9818T>G (p.Phe3273Cys) c.7082T>G (p.Phe2361Cys) c.5975T>G (p.Phe1992Cys) c.10001T>G (p.Phe3334Cys) c.5753T>G (p.Phe1918Cys) c.8981T>G (p.Phe2994Cys) | |
| 8 | g.99853511T>A | CA371780831 | VPS13B | c.10197T>A (p.Phe3399Leu) n.10267T>A c.*5879T>A (n.*5879T>A) c.10122T>A (p.Phe3374Leu) c.10194T>A (p.Phe3398Leu) c.10119T>A (p.Phe3373Leu) c.9819T>A (p.Phe3273Leu) c.7083T>A (p.Phe2361Leu) c.5976T>A (p.Phe1992Leu) c.10002T>A (p.Phe3334Leu) c.5754T>A (p.Phe1918Leu) c.8982T>A (p.Phe2994Leu) | |
| 8 | g.99853511T>C | CA462458055 | VPS13B | c.10197T>C (p.Phe3399=) n.10267T>C c.*5879T>C (n.*5879T>C) c.10122T>C (p.Phe3374=) c.10194T>C (p.Phe3398=) c.10119T>C (p.Phe3373=) c.9819T>C (p.Phe3273=) c.7083T>C (p.Phe2361=) c.5976T>C (p.Phe1992=) c.10002T>C (p.Phe3334=) c.5754T>C (p.Phe1918=) c.8982T>C (p.Phe2994=) |