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.99853670G>A | CA462458163 | VPS13B | c.10356G>A (p.Leu3452=) n.10426G>A c.*6038G>A (n.*6038G>A) c.10281G>A (p.Leu3427=) c.10353G>A (p.Leu3451=) c.10278G>A (p.Leu3426=) c.9978G>A (p.Leu3326=) c.7242G>A (p.Leu2414=) c.6135G>A (p.Leu2045=) c.10161G>A (p.Leu3387=) c.5913G>A (p.Leu1971=) c.9141G>A (p.Leu3047=) | |
| 8 | g.99853670G>C | CA462458164 | VPS13B | c.10356G>C (p.Leu3452=) n.10426G>C c.*6038G>C (n.*6038G>C) c.10281G>C (p.Leu3427=) c.10353G>C (p.Leu3451=) c.10278G>C (p.Leu3426=) c.9978G>C (p.Leu3326=) c.7242G>C (p.Leu2414=) c.6135G>C (p.Leu2045=) c.10161G>C (p.Leu3387=) c.5913G>C (p.Leu1971=) c.9141G>C (p.Leu3047=) | |
| 8 | g.99853670G>T | CA462458165 | VPS13B | c.10356G>T (p.Leu3452=) n.10426G>T c.*6038G>T (n.*6038G>T) c.10281G>T (p.Leu3427=) c.10353G>T (p.Leu3451=) c.10278G>T (p.Leu3426=) c.9978G>T (p.Leu3326=) c.7242G>T (p.Leu2414=) c.6135G>T (p.Leu2045=) c.10161G>T (p.Leu3387=) c.5913G>T (p.Leu1971=) c.9141G>T (p.Leu3047=) | |
| 8 | g.99853671C>A | CA371781305 | VPS13B | c.10357C>A (p.Gln3453Lys) n.10427C>A c.*6039C>A (n.*6039C>A) c.10282C>A (p.Gln3428Lys) c.10354C>A (p.Gln3452Lys) c.10279C>A (p.Gln3427Lys) c.9979C>A (p.Gln3327Lys) c.7243C>A (p.Gln2415Lys) c.6136C>A (p.Gln2046Lys) c.10162C>A (p.Gln3388Lys) c.5914C>A (p.Gln1972Lys) c.9142C>A (p.Gln3048Lys) | |
| 8 | g.99853671C>G | CA371781308 | VPS13B | c.10357C>G (p.Gln3453Glu) n.10427C>G c.*6039C>G (n.*6039C>G) c.10282C>G (p.Gln3428Glu) c.10354C>G (p.Gln3452Glu) c.10279C>G (p.Gln3427Glu) c.9979C>G (p.Gln3327Glu) c.7243C>G (p.Gln2415Glu) c.6136C>G (p.Gln2046Glu) c.10162C>G (p.Gln3388Glu) c.5914C>G (p.Gln1972Glu) c.9142C>G (p.Gln3048Glu) | |
| 8 | g.99853671C>T | CA371781307 | VPS13B | c.10357C>T (p.Gln3453Ter) n.10427C>T c.*6039C>T (n.*6039C>T) c.10282C>T (p.Gln3428Ter) c.10354C>T (p.Gln3452Ter) c.10279C>T (p.Gln3427Ter) c.9979C>T (p.Gln3327Ter) c.7243C>T (p.Gln2415Ter) c.6136C>T (p.Gln2046Ter) c.10162C>T (p.Gln3388Ter) c.5914C>T (p.Gln1972Ter) c.9142C>T (p.Gln3048Ter) | ClinVar |
| 8 | g.99853672A>C | CA371781311 | VPS13B | c.10358A>C (p.Gln3453Pro) n.10428A>C c.*6040A>C (n.*6040A>C) c.10283A>C (p.Gln3428Pro) c.10355A>C (p.Gln3452Pro) c.10280A>C (p.Gln3427Pro) c.9980A>C (p.Gln3327Pro) c.7244A>C (p.Gln2415Pro) c.6137A>C (p.Gln2046Pro) c.10163A>C (p.Gln3388Pro) c.5915A>C (p.Gln1972Pro) c.9143A>C (p.Gln3048Pro) | |
| 8 | g.99853672A>G | CA371781313 | VPS13B | c.10358A>G (p.Gln3453Arg) n.10428A>G c.*6040A>G (n.*6040A>G) c.10283A>G (p.Gln3428Arg) c.10355A>G (p.Gln3452Arg) c.10280A>G (p.Gln3427Arg) c.9980A>G (p.Gln3327Arg) c.7244A>G (p.Gln2415Arg) c.6137A>G (p.Gln2046Arg) c.10163A>G (p.Gln3388Arg) c.5915A>G (p.Gln1972Arg) c.9143A>G (p.Gln3048Arg) | |
| 8 | g.99853672A>T | CA371781315 | VPS13B | c.10358A>T (p.Gln3453Leu) n.10428A>T c.*6040A>T (n.*6040A>T) c.10283A>T (p.Gln3428Leu) c.10355A>T (p.Gln3452Leu) c.10280A>T (p.Gln3427Leu) c.9980A>T (p.Gln3327Leu) c.7244A>T (p.Gln2415Leu) c.6137A>T (p.Gln2046Leu) c.10163A>T (p.Gln3388Leu) c.5915A>T (p.Gln1972Leu) c.9143A>T (p.Gln3048Leu) | |
| 8 | g.99853673G>A | CA462458166 | VPS13B | c.10359G>A (p.Gln3453=) n.10429G>A c.*6041G>A (n.*6041G>A) c.10284G>A (p.Gln3428=) c.10356G>A (p.Gln3452=) c.10281G>A (p.Gln3427=) c.9981G>A (p.Gln3327=) c.7245G>A (p.Gln2415=) c.6138G>A (p.Gln2046=) c.10164G>A (p.Gln3388=) c.5916G>A (p.Gln1972=) c.9144G>A (p.Gln3048=) | |
| 8 | g.99853673G>C | CA371781316 | VPS13B | c.10359G>C (p.Gln3453His) n.10429G>C c.*6041G>C (n.*6041G>C) c.10284G>C (p.Gln3428His) c.10356G>C (p.Gln3452His) c.10281G>C (p.Gln3427His) c.9981G>C (p.Gln3327His) c.7245G>C (p.Gln2415His) c.6138G>C (p.Gln2046His) c.10164G>C (p.Gln3388His) c.5916G>C (p.Gln1972His) c.9144G>C (p.Gln3048His) | |
| 8 | g.99853673G>T | CA371781319 | VPS13B | c.10359G>T (p.Gln3453His) n.10429G>T c.*6041G>T (n.*6041G>T) c.10284G>T (p.Gln3428His) c.10356G>T (p.Gln3452His) c.10281G>T (p.Gln3427His) c.9981G>T (p.Gln3327His) c.7245G>T (p.Gln2415His) c.6138G>T (p.Gln2046His) c.10164G>T (p.Gln3388His) c.5916G>T (p.Gln1972His) c.9144G>T (p.Gln3048His) | |
| 8 | g.99853674C>A | CA371781321 | VPS13B | c.10360C>A (p.Leu3454Ile) n.10430C>A c.*6042C>A (n.*6042C>A) c.10285C>A (p.Leu3429Ile) c.10357C>A (p.Leu3453Ile) c.10282C>A (p.Leu3428Ile) c.9982C>A (p.Leu3328Ile) c.7246C>A (p.Leu2416Ile) c.6139C>A (p.Leu2047Ile) c.10165C>A (p.Leu3389Ile) c.5917C>A (p.Leu1973Ile) c.9145C>A (p.Leu3049Ile) | |
| 8 | g.99853674C>G | CA371781323 | VPS13B | c.10360C>G (p.Leu3454Val) n.10430C>G c.*6042C>G (n.*6042C>G) c.10285C>G (p.Leu3429Val) c.10357C>G (p.Leu3453Val) c.10282C>G (p.Leu3428Val) c.9982C>G (p.Leu3328Val) c.7246C>G (p.Leu2416Val) c.6139C>G (p.Leu2047Val) c.10165C>G (p.Leu3389Val) c.5917C>G (p.Leu1973Val) c.9145C>G (p.Leu3049Val) | |
| 8 | g.99853674C>T | CA462458167 | VPS13B | c.10360C>T (p.Leu3454=) n.10430C>T c.*6042C>T (n.*6042C>T) c.10285C>T (p.Leu3429=) c.10357C>T (p.Leu3453=) c.10282C>T (p.Leu3428=) c.9982C>T (p.Leu3328=) c.7246C>T (p.Leu2416=) c.6139C>T (p.Leu2047=) c.10165C>T (p.Leu3389=) c.5917C>T (p.Leu1973=) c.9145C>T (p.Leu3049=) | |
| 8 | g.99853674dup | CA891843249 | VPS13B | c.10360dup (p.Leu3454ProfsTer7) n.10430dup c.*6042dup (n.*6042dup) c.10285dup (p.Leu3429ProfsTer7) c.10357dup (p.Leu3453ProfsTer7) c.10282dup (p.Leu3428ProfsTer7) c.9982dup (p.Leu3328ProfsTer7) c.7246dup (p.Leu2416ProfsTer7) c.6139dup (p.Leu2047ProfsTer7) c.10165dup (p.Leu3389ProfsTer7) c.5917dup (p.Leu1973ProfsTer7) c.9145dup (p.Leu3049ProfsTer7) | ClinVar dbSNP |
| 8 | g.99853675T>A | CA371781324 | VPS13B | c.10361T>A (p.Leu3454Gln) n.10431T>A c.*6043T>A (n.*6043T>A) c.10286T>A (p.Leu3429Gln) c.10358T>A (p.Leu3453Gln) c.10283T>A (p.Leu3428Gln) c.9983T>A (p.Leu3328Gln) c.7247T>A (p.Leu2416Gln) c.6140T>A (p.Leu2047Gln) c.10166T>A (p.Leu3389Gln) c.5918T>A (p.Leu1973Gln) c.9146T>A (p.Leu3049Gln) | |
| 8 | g.99853675T>C | CA371781326 | VPS13B | c.10361T>C (p.Leu3454Pro) n.10431T>C c.*6043T>C (n.*6043T>C) c.10286T>C (p.Leu3429Pro) c.10358T>C (p.Leu3453Pro) c.10283T>C (p.Leu3428Pro) c.9983T>C (p.Leu3328Pro) c.7247T>C (p.Leu2416Pro) c.6140T>C (p.Leu2047Pro) c.10166T>C (p.Leu3389Pro) c.5918T>C (p.Leu1973Pro) c.9146T>C (p.Leu3049Pro) | |
| 8 | g.99853675T>G | CA371781327 | VPS13B | c.10361T>G (p.Leu3454Arg) n.10431T>G c.*6043T>G (n.*6043T>G) c.10286T>G (p.Leu3429Arg) c.10358T>G (p.Leu3453Arg) c.10283T>G (p.Leu3428Arg) c.9983T>G (p.Leu3328Arg) c.7247T>G (p.Leu2416Arg) c.6140T>G (p.Leu2047Arg) c.10166T>G (p.Leu3389Arg) c.5918T>G (p.Leu1973Arg) c.9146T>G (p.Leu3049Arg) | |
| 8 | g.99853676A>C | CA462458168 | VPS13B | c.10362A>C (p.Leu3454=) n.10432A>C c.*6044A>C (n.*6044A>C) c.10287A>C (p.Leu3429=) c.10359A>C (p.Leu3453=) c.10284A>C (p.Leu3428=) c.9984A>C (p.Leu3328=) c.7248A>C (p.Leu2416=) c.6141A>C (p.Leu2047=) c.10167A>C (p.Leu3389=) c.5919A>C (p.Leu1973=) c.9147A>C (p.Leu3049=) | |
| 8 | g.99853676A>G | CA462458169 | VPS13B | c.10362A>G (p.Leu3454=) n.10432A>G c.*6044A>G (n.*6044A>G) c.10287A>G (p.Leu3429=) c.10359A>G (p.Leu3453=) c.10284A>G (p.Leu3428=) c.9984A>G (p.Leu3328=) c.7248A>G (p.Leu2416=) c.6141A>G (p.Leu2047=) c.10167A>G (p.Leu3389=) c.5919A>G (p.Leu1973=) c.9147A>G (p.Leu3049=) | gnomAD v4 |
| 8 | g.99853676A>T | CA462458170 | VPS13B | c.10362A>T (p.Leu3454=) n.10432A>T c.*6044A>T (n.*6044A>T) c.10287A>T (p.Leu3429=) c.10359A>T (p.Leu3453=) c.10284A>T (p.Leu3428=) c.9984A>T (p.Leu3328=) c.7248A>T (p.Leu2416=) c.6141A>T (p.Leu2047=) c.10167A>T (p.Leu3389=) c.5919A>T (p.Leu1973=) c.9147A>T (p.Leu3049=) | |
| 8 | g.99853677G>A | CA371781331 | VPS13B | c.10363G>A (p.Asp3455Asn) n.10433G>A c.*6045G>A (n.*6045G>A) c.10288G>A (p.Asp3430Asn) c.10360G>A (p.Asp3454Asn) c.10285G>A (p.Asp3429Asn) c.9985G>A (p.Asp3329Asn) c.7249G>A (p.Asp2417Asn) c.6142G>A (p.Asp2048Asn) c.10168G>A (p.Asp3390Asn) c.5920G>A (p.Asp1974Asn) c.9148G>A (p.Asp3050Asn) | dbSNP |
| 8 | g.99853677G>C | CA371781333 | VPS13B | c.10363G>C (p.Asp3455His) n.10433G>C c.*6045G>C (n.*6045G>C) c.10288G>C (p.Asp3430His) c.10360G>C (p.Asp3454His) c.10285G>C (p.Asp3429His) c.9985G>C (p.Asp3329His) c.7249G>C (p.Asp2417His) c.6142G>C (p.Asp2048His) c.10168G>C (p.Asp3390His) c.5920G>C (p.Asp1974His) c.9148G>C (p.Asp3050His) | |
| 8 | g.99853677G>T | CA371781329 | VPS13B | c.10363G>T (p.Asp3455Tyr) n.10433G>T c.*6045G>T (n.*6045G>T) c.10288G>T (p.Asp3430Tyr) c.10360G>T (p.Asp3454Tyr) c.10285G>T (p.Asp3429Tyr) c.9985G>T (p.Asp3329Tyr) c.7249G>T (p.Asp2417Tyr) c.6142G>T (p.Asp2048Tyr) c.10168G>T (p.Asp3390Tyr) c.5920G>T (p.Asp1974Tyr) c.9148G>T (p.Asp3050Tyr) | |
| 8 | g.99853678A>C | CA371781336 | VPS13B | c.10364A>C (p.Asp3455Ala) n.10434A>C c.*6046A>C (n.*6046A>C) c.10289A>C (p.Asp3430Ala) c.10361A>C (p.Asp3454Ala) c.10286A>C (p.Asp3429Ala) c.9986A>C (p.Asp3329Ala) c.7250A>C (p.Asp2417Ala) c.6143A>C (p.Asp2048Ala) c.10169A>C (p.Asp3390Ala) c.5921A>C (p.Asp1974Ala) c.9149A>C (p.Asp3050Ala) | |
| 8 | g.99853678A>G | CA371781338 | VPS13B | c.10364A>G (p.Asp3455Gly) n.10434A>G c.*6046A>G (n.*6046A>G) c.10289A>G (p.Asp3430Gly) c.10361A>G (p.Asp3454Gly) c.10286A>G (p.Asp3429Gly) c.9986A>G (p.Asp3329Gly) c.7250A>G (p.Asp2417Gly) c.6143A>G (p.Asp2048Gly) c.10169A>G (p.Asp3390Gly) c.5921A>G (p.Asp1974Gly) c.9149A>G (p.Asp3050Gly) | |
| 8 | g.99853678A>T | CA371781340 | VPS13B | c.10364A>T (p.Asp3455Val) n.10434A>T c.*6046A>T (n.*6046A>T) c.10289A>T (p.Asp3430Val) c.10361A>T (p.Asp3454Val) c.10286A>T (p.Asp3429Val) c.9986A>T (p.Asp3329Val) c.7250A>T (p.Asp2417Val) c.6143A>T (p.Asp2048Val) c.10169A>T (p.Asp3390Val) c.5921A>T (p.Asp1974Val) c.9149A>T (p.Asp3050Val) | |
| 8 | g.99853679C>A | CA371781341 | VPS13B | c.10365C>A (p.Asp3455Glu) n.10435C>A c.*6047C>A (n.*6047C>A) c.10290C>A (p.Asp3430Glu) c.10362C>A (p.Asp3454Glu) c.10287C>A (p.Asp3429Glu) c.9987C>A (p.Asp3329Glu) c.7251C>A (p.Asp2417Glu) c.6144C>A (p.Asp2048Glu) c.10170C>A (p.Asp3390Glu) c.5922C>A (p.Asp1974Glu) c.9150C>A (p.Asp3050Glu) | |
| 8 | g.99853679C>G | CA371781343 | VPS13B | c.10365C>G (p.Asp3455Glu) n.10435C>G c.*6047C>G (n.*6047C>G) c.10290C>G (p.Asp3430Glu) c.10362C>G (p.Asp3454Glu) c.10287C>G (p.Asp3429Glu) c.9987C>G (p.Asp3329Glu) c.7251C>G (p.Asp2417Glu) c.6144C>G (p.Asp2048Glu) c.10170C>G (p.Asp3390Glu) c.5922C>G (p.Asp1974Glu) c.9150C>G (p.Asp3050Glu) | |
| 8 | g.99853679C>T | CA462458172 | VPS13B | c.10365C>T (p.Asp3455=) n.10435C>T c.*6047C>T (n.*6047C>T) c.10290C>T (p.Asp3430=) c.10362C>T (p.Asp3454=) c.10287C>T (p.Asp3429=) c.9987C>T (p.Asp3329=) c.7251C>T (p.Asp2417=) c.6144C>T (p.Asp2048=) c.10170C>T (p.Asp3390=) c.5922C>T (p.Asp1974=) c.9150C>T (p.Asp3050=) | |
| 8 | g.99853680A>C | CA371781347 | VPS13B | c.10366A>C (p.Asn3456His) n.10436A>C c.*6048A>C (n.*6048A>C) c.10291A>C (p.Asn3431His) c.10363A>C (p.Asn3455His) c.10288A>C (p.Asn3430His) c.9988A>C (p.Asn3330His) c.7252A>C (p.Asn2418His) c.6145A>C (p.Asn2049His) c.10171A>C (p.Asn3391His) c.5923A>C (p.Asn1975His) c.9151A>C (p.Asn3051His) | |
| 8 | g.99853680A>G | CA182314254 | VPS13B | c.10366A>G (p.Asn3456Asp) n.10436A>G c.*6048A>G (n.*6048A>G) c.10291A>G (p.Asn3431Asp) c.10363A>G (p.Asn3455Asp) c.10288A>G (p.Asn3430Asp) c.9988A>G (p.Asn3330Asp) c.7252A>G (p.Asn2418Asp) c.6145A>G (p.Asn2049Asp) c.10171A>G (p.Asn3391Asp) c.5923A>G (p.Asn1975Asp) c.9151A>G (p.Asn3051Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.99853680A>T | CA371781346 | VPS13B | c.10366A>T (p.Asn3456Tyr) n.10436A>T c.*6048A>T (n.*6048A>T) c.10291A>T (p.Asn3431Tyr) c.10363A>T (p.Asn3455Tyr) c.10288A>T (p.Asn3430Tyr) c.9988A>T (p.Asn3330Tyr) c.7252A>T (p.Asn2418Tyr) c.6145A>T (p.Asn2049Tyr) c.10171A>T (p.Asn3391Tyr) c.5923A>T (p.Asn1975Tyr) c.9151A>T (p.Asn3051Tyr) | |
| 8 | g.99853681A>C | CA371781349 | VPS13B | c.10367A>C (p.Asn3456Thr) n.10437A>C c.*6049A>C (n.*6049A>C) c.10292A>C (p.Asn3431Thr) c.10364A>C (p.Asn3455Thr) c.10289A>C (p.Asn3430Thr) c.9989A>C (p.Asn3330Thr) c.7253A>C (p.Asn2418Thr) c.6146A>C (p.Asn2049Thr) c.10172A>C (p.Asn3391Thr) c.5924A>C (p.Asn1975Thr) c.9152A>C (p.Asn3051Thr) | |
| 8 | g.99853681A>G | CA371781350 | VPS13B | c.10367A>G (p.Asn3456Ser) n.10437A>G c.*6049A>G (n.*6049A>G) c.10292A>G (p.Asn3431Ser) c.10364A>G (p.Asn3455Ser) c.10289A>G (p.Asn3430Ser) c.9989A>G (p.Asn3330Ser) c.7253A>G (p.Asn2418Ser) c.6146A>G (p.Asn2049Ser) c.10172A>G (p.Asn3391Ser) c.5924A>G (p.Asn1975Ser) c.9152A>G (p.Asn3051Ser) | dbSNP gnomAD v4 |
| 8 | g.99853681A>T | CA371781352 | VPS13B | c.10367A>T (p.Asn3456Ile) n.10437A>T c.*6049A>T (n.*6049A>T) c.10292A>T (p.Asn3431Ile) c.10364A>T (p.Asn3455Ile) c.10289A>T (p.Asn3430Ile) c.9989A>T (p.Asn3330Ile) c.7253A>T (p.Asn2418Ile) c.6146A>T (p.Asn2049Ile) c.10172A>T (p.Asn3391Ile) c.5924A>T (p.Asn1975Ile) c.9152A>T (p.Asn3051Ile) | |
| 8 | g.99853682C>A | CA371781355 | VPS13B | c.10368C>A (p.Asn3456Lys) n.10438C>A c.*6050C>A (n.*6050C>A) c.10293C>A (p.Asn3431Lys) c.10365C>A (p.Asn3455Lys) c.10290C>A (p.Asn3430Lys) c.9990C>A (p.Asn3330Lys) c.7254C>A (p.Asn2418Lys) c.6147C>A (p.Asn2049Lys) c.10173C>A (p.Asn3391Lys) c.5925C>A (p.Asn1975Lys) c.9153C>A (p.Asn3051Lys) | |
| 8 | g.99853682C>G | CA371781356 | VPS13B | c.10368C>G (p.Asn3456Lys) n.10438C>G c.*6050C>G (n.*6050C>G) c.10293C>G (p.Asn3431Lys) c.10365C>G (p.Asn3455Lys) c.10290C>G (p.Asn3430Lys) c.9990C>G (p.Asn3330Lys) c.7254C>G (p.Asn2418Lys) c.6147C>G (p.Asn2049Lys) c.10173C>G (p.Asn3391Lys) c.5925C>G (p.Asn1975Lys) c.9153C>G (p.Asn3051Lys) | |
| 8 | g.99853682C>T | CA462458177 | VPS13B | c.10368C>T (p.Asn3456=) n.10438C>T c.*6050C>T (n.*6050C>T) c.10293C>T (p.Asn3431=) c.10365C>T (p.Asn3455=) c.10290C>T (p.Asn3430=) c.9990C>T (p.Asn3330=) c.7254C>T (p.Asn2418=) c.6147C>T (p.Asn2049=) c.10173C>T (p.Asn3391=) c.5925C>T (p.Asn1975=) c.9153C>T (p.Asn3051=) | dbSNP gnomAD v2 |
| 8 | g.99853683C>A | CA371781359 | VPS13B | c.10369C>A (p.Gln3457Lys) n.10439C>A c.*6051C>A (n.*6051C>A) c.10294C>A (p.Gln3432Lys) c.10366C>A (p.Gln3456Lys) c.10291C>A (p.Gln3431Lys) c.9991C>A (p.Gln3331Lys) c.7255C>A (p.Gln2419Lys) c.6148C>A (p.Gln2050Lys) c.10174C>A (p.Gln3392Lys) c.5926C>A (p.Gln1976Lys) c.9154C>A (p.Gln3052Lys) | |
| 8 | g.99853683C>G | CA371781363 | VPS13B | c.10369C>G (p.Gln3457Glu) n.10439C>G c.*6051C>G (n.*6051C>G) c.10294C>G (p.Gln3432Glu) c.10366C>G (p.Gln3456Glu) c.10291C>G (p.Gln3431Glu) c.9991C>G (p.Gln3331Glu) c.7255C>G (p.Gln2419Glu) c.6148C>G (p.Gln2050Glu) c.10174C>G (p.Gln3392Glu) c.5926C>G (p.Gln1976Glu) c.9154C>G (p.Gln3052Glu) | |
| 8 | g.99853683C>T | CA371781361 | VPS13B | c.10369C>T (p.Gln3457Ter) n.10439C>T c.*6051C>T (n.*6051C>T) c.10294C>T (p.Gln3432Ter) c.10366C>T (p.Gln3456Ter) c.10291C>T (p.Gln3431Ter) c.9991C>T (p.Gln3331Ter) c.7255C>T (p.Gln2419Ter) c.6148C>T (p.Gln2050Ter) c.10174C>T (p.Gln3392Ter) c.5926C>T (p.Gln1976Ter) c.9154C>T (p.Gln3052Ter) | |
| 8 | g.99853684A>C | CA371781365 | VPS13B | c.10370A>C (p.Gln3457Pro) n.10440A>C c.*6052A>C (n.*6052A>C) c.10295A>C (p.Gln3432Pro) c.10367A>C (p.Gln3456Pro) c.10292A>C (p.Gln3431Pro) c.9992A>C (p.Gln3331Pro) c.7256A>C (p.Gln2419Pro) c.6149A>C (p.Gln2050Pro) c.10175A>C (p.Gln3392Pro) c.5927A>C (p.Gln1976Pro) c.9155A>C (p.Gln3052Pro) | |
| 8 | g.99853684A>G | CA371781366 | VPS13B | c.10370A>G (p.Gln3457Arg) n.10440A>G c.*6052A>G (n.*6052A>G) c.10295A>G (p.Gln3432Arg) c.10367A>G (p.Gln3456Arg) c.10292A>G (p.Gln3431Arg) c.9992A>G (p.Gln3331Arg) c.7256A>G (p.Gln2419Arg) c.6149A>G (p.Gln2050Arg) c.10175A>G (p.Gln3392Arg) c.5927A>G (p.Gln1976Arg) c.9155A>G (p.Gln3052Arg) | dbSNP |
| 8 | g.99853684A>T | CA371781369 | VPS13B | c.10370A>T (p.Gln3457Leu) n.10440A>T c.*6052A>T (n.*6052A>T) c.10295A>T (p.Gln3432Leu) c.10367A>T (p.Gln3456Leu) c.10292A>T (p.Gln3431Leu) c.9992A>T (p.Gln3331Leu) c.7256A>T (p.Gln2419Leu) c.6149A>T (p.Gln2050Leu) c.10175A>T (p.Gln3392Leu) c.5927A>T (p.Gln1976Leu) c.9155A>T (p.Gln3052Leu) | |
| 8 | g.99853685G>A | CA462458180 | VPS13B | c.10371G>A (p.Gln3457=) n.10441G>A c.*6053G>A (n.*6053G>A) c.10296G>A (p.Gln3432=) c.10368G>A (p.Gln3456=) c.10293G>A (p.Gln3431=) c.9993G>A (p.Gln3331=) c.7257G>A (p.Gln2419=) c.6150G>A (p.Gln2050=) c.10176G>A (p.Gln3392=) c.5928G>A (p.Gln1976=) c.9156G>A (p.Gln3052=) | |
| 8 | g.99853685G>C | CA371781371 | VPS13B | c.10371G>C (p.Gln3457His) n.10441G>C c.*6053G>C (n.*6053G>C) c.10296G>C (p.Gln3432His) c.10368G>C (p.Gln3456His) c.10293G>C (p.Gln3431His) c.9993G>C (p.Gln3331His) c.7257G>C (p.Gln2419His) c.6150G>C (p.Gln2050His) c.10176G>C (p.Gln3392His) c.5928G>C (p.Gln1976His) c.9156G>C (p.Gln3052His) | |
| 8 | g.99853685G>T | CA371781373 | VPS13B | c.10371G>T (p.Gln3457His) n.10441G>T c.*6053G>T (n.*6053G>T) c.10296G>T (p.Gln3432His) c.10368G>T (p.Gln3456His) c.10293G>T (p.Gln3431His) c.9993G>T (p.Gln3331His) c.7257G>T (p.Gln2419His) c.6150G>T (p.Gln2050His) c.10176G>T (p.Gln3392His) c.5928G>T (p.Gln1976His) c.9156G>T (p.Gln3052His) | |
| 8 | g.99853686C>A | CA371781376 | VPS13B | c.10372C>A (p.Leu3458Ile) n.10442C>A c.*6054C>A (n.*6054C>A) c.10297C>A (p.Leu3433Ile) c.10369C>A (p.Leu3457Ile) c.10294C>A (p.Leu3432Ile) c.9994C>A (p.Leu3332Ile) c.7258C>A (p.Leu2420Ile) c.6151C>A (p.Leu2051Ile) c.10177C>A (p.Leu3393Ile) c.5929C>A (p.Leu1977Ile) c.9157C>A (p.Leu3053Ile) |