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) | |
8 | g.99853686C>G | CA371781377 | VPS13B | c.10372C>G (p.Leu3458Val) n.10442C>G c.*6054C>G (n.*6054C>G) c.10297C>G (p.Leu3433Val) c.10369C>G (p.Leu3457Val) c.10294C>G (p.Leu3432Val) c.9994C>G (p.Leu3332Val) c.7258C>G (p.Leu2420Val) c.6151C>G (p.Leu2051Val) c.10177C>G (p.Leu3393Val) c.5929C>G (p.Leu1977Val) c.9157C>G (p.Leu3053Val) | |
8 | g.99853686C>T | CA371781379 | VPS13B | c.10372C>T (p.Leu3458Phe) n.10442C>T c.*6054C>T (n.*6054C>T) c.10297C>T (p.Leu3433Phe) c.10369C>T (p.Leu3457Phe) c.10294C>T (p.Leu3432Phe) c.9994C>T (p.Leu3332Phe) c.7258C>T (p.Leu2420Phe) c.6151C>T (p.Leu2051Phe) c.10177C>T (p.Leu3393Phe) c.5929C>T (p.Leu1977Phe) c.9157C>T (p.Leu3053Phe) | ClinVar dbSNP |
8 | g.99853687T>A | CA371781382 | VPS13B | c.10373T>A (p.Leu3458His) n.10443T>A c.*6055T>A (n.*6055T>A) c.10298T>A (p.Leu3433His) c.10370T>A (p.Leu3457His) c.10295T>A (p.Leu3432His) c.9995T>A (p.Leu3332His) c.7259T>A (p.Leu2420His) c.6152T>A (p.Leu2051His) c.10178T>A (p.Leu3393His) c.5930T>A (p.Leu1977His) c.9158T>A (p.Leu3053His) | |
8 | g.99853687T>C | CA371781384 | VPS13B | c.10373T>C (p.Leu3458Pro) n.10443T>C c.*6055T>C (n.*6055T>C) c.10298T>C (p.Leu3433Pro) c.10370T>C (p.Leu3457Pro) c.10295T>C (p.Leu3432Pro) c.9995T>C (p.Leu3332Pro) c.7259T>C (p.Leu2420Pro) c.6152T>C (p.Leu2051Pro) c.10178T>C (p.Leu3393Pro) c.5930T>C (p.Leu1977Pro) c.9158T>C (p.Leu3053Pro) | |
8 | g.99853687T>G | CA371781386 | VPS13B | c.10373T>G (p.Leu3458Arg) n.10443T>G c.*6055T>G (n.*6055T>G) c.10298T>G (p.Leu3433Arg) c.10370T>G (p.Leu3457Arg) c.10295T>G (p.Leu3432Arg) c.9995T>G (p.Leu3332Arg) c.7259T>G (p.Leu2420Arg) c.6152T>G (p.Leu2051Arg) c.10178T>G (p.Leu3393Arg) c.5930T>G (p.Leu1977Arg) c.9158T>G (p.Leu3053Arg) | |
8 | g.99853688T>A | CA462458184 | VPS13B | c.10374T>A (p.Leu3458=) n.10444T>A c.*6056T>A (n.*6056T>A) c.10299T>A (p.Leu3433=) c.10371T>A (p.Leu3457=) c.10296T>A (p.Leu3432=) c.9996T>A (p.Leu3332=) c.7260T>A (p.Leu2420=) c.6153T>A (p.Leu2051=) c.10179T>A (p.Leu3393=) c.5931T>A (p.Leu1977=) c.9159T>A (p.Leu3053=) | |
8 | g.99853688T>C | CA4824927 | VPS13B | c.10374T>C (p.Leu3458=) n.10444T>C c.*6056T>C (n.*6056T>C) c.10299T>C (p.Leu3433=) c.10371T>C (p.Leu3457=) c.10296T>C (p.Leu3432=) c.9996T>C (p.Leu3332=) c.7260T>C (p.Leu2420=) c.6153T>C (p.Leu2051=) c.10179T>C (p.Leu3393=) c.5931T>C (p.Leu1977=) c.9159T>C (p.Leu3053=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853688T>G | CA462458185 | VPS13B | c.10374T>G (p.Leu3458=) n.10444T>G c.*6056T>G (n.*6056T>G) c.10299T>G (p.Leu3433=) c.10371T>G (p.Leu3457=) c.10296T>G (p.Leu3432=) c.9996T>G (p.Leu3332=) c.7260T>G (p.Leu2420=) c.6153T>G (p.Leu2051=) c.10179T>G (p.Leu3393=) c.5931T>G (p.Leu1977=) c.9159T>G (p.Leu3053=) | |
8 | g.99853689T>A | CA371781391 | VPS13B | c.10375T>A (p.Tyr3459Asn) n.10445T>A c.*6057T>A (n.*6057T>A) c.10300T>A (p.Tyr3434Asn) c.10372T>A (p.Tyr3458Asn) c.10297T>A (p.Tyr3433Asn) c.9997T>A (p.Tyr3333Asn) c.7261T>A (p.Tyr2421Asn) c.6154T>A (p.Tyr2052Asn) c.10180T>A (p.Tyr3394Asn) c.5932T>A (p.Tyr1978Asn) c.9160T>A (p.Tyr3054Asn) | |
8 | g.99853689T>C | CA371781393 | VPS13B | c.10375T>C (p.Tyr3459His) n.10445T>C c.*6057T>C (n.*6057T>C) c.10300T>C (p.Tyr3434His) c.10372T>C (p.Tyr3458His) c.10297T>C (p.Tyr3433His) c.9997T>C (p.Tyr3333His) c.7261T>C (p.Tyr2421His) c.6154T>C (p.Tyr2052His) c.10180T>C (p.Tyr3394His) c.5932T>C (p.Tyr1978His) c.9160T>C (p.Tyr3054His) | |
8 | g.99853689T>G | CA371781389 | VPS13B | c.10375T>G (p.Tyr3459Asp) n.10445T>G c.*6057T>G (n.*6057T>G) c.10300T>G (p.Tyr3434Asp) c.10372T>G (p.Tyr3458Asp) c.10297T>G (p.Tyr3433Asp) c.9997T>G (p.Tyr3333Asp) c.7261T>G (p.Tyr2421Asp) c.6154T>G (p.Tyr2052Asp) c.10180T>G (p.Tyr3394Asp) c.5932T>G (p.Tyr1978Asp) c.9160T>G (p.Tyr3054Asp) | |
8 | g.99853690A>C | CA371781397 | VPS13B | c.10376A>C (p.Tyr3459Ser) n.10446A>C c.*6058A>C (n.*6058A>C) c.10301A>C (p.Tyr3434Ser) c.10373A>C (p.Tyr3458Ser) c.10298A>C (p.Tyr3433Ser) c.9998A>C (p.Tyr3333Ser) c.7262A>C (p.Tyr2421Ser) c.6155A>C (p.Tyr2052Ser) c.10181A>C (p.Tyr3394Ser) c.5933A>C (p.Tyr1978Ser) c.9161A>C (p.Tyr3054Ser) | gnomAD v4 |
8 | g.99853690A>G | CA371781395 | VPS13B | c.10376A>G (p.Tyr3459Cys) n.10446A>G c.*6058A>G (n.*6058A>G) c.10301A>G (p.Tyr3434Cys) c.10373A>G (p.Tyr3458Cys) c.10298A>G (p.Tyr3433Cys) c.9998A>G (p.Tyr3333Cys) c.7262A>G (p.Tyr2421Cys) c.6155A>G (p.Tyr2052Cys) c.10181A>G (p.Tyr3394Cys) c.5933A>G (p.Tyr1978Cys) c.9161A>G (p.Tyr3054Cys) | |
8 | g.99853690A>T | CA371781399 | VPS13B | c.10376A>T (p.Tyr3459Phe) n.10446A>T c.*6058A>T (n.*6058A>T) c.10301A>T (p.Tyr3434Phe) c.10373A>T (p.Tyr3458Phe) c.10298A>T (p.Tyr3433Phe) c.9998A>T (p.Tyr3333Phe) c.7262A>T (p.Tyr2421Phe) c.6155A>T (p.Tyr2052Phe) c.10181A>T (p.Tyr3394Phe) c.5933A>T (p.Tyr1978Phe) c.9161A>T (p.Tyr3054Phe) | gnomAD v4 |
8 | g.99853691T>A | CA371781401 | VPS13B | c.10377T>A (p.Tyr3459Ter) n.10447T>A c.*6059T>A (n.*6059T>A) c.10302T>A (p.Tyr3434Ter) c.10374T>A (p.Tyr3458Ter) c.10299T>A (p.Tyr3433Ter) c.9999T>A (p.Tyr3333Ter) c.7263T>A (p.Tyr2421Ter) c.6156T>A (p.Tyr2052Ter) c.10182T>A (p.Tyr3394Ter) c.5934T>A (p.Tyr1978Ter) c.9162T>A (p.Tyr3054Ter) | ClinVar |
8 | g.99853691T>C | CA462458189 | VPS13B | c.10377T>C (p.Tyr3459=) n.10447T>C c.*6059T>C (n.*6059T>C) c.10302T>C (p.Tyr3434=) c.10374T>C (p.Tyr3458=) c.10299T>C (p.Tyr3433=) c.9999T>C (p.Tyr3333=) c.7263T>C (p.Tyr2421=) c.6156T>C (p.Tyr2052=) c.10182T>C (p.Tyr3394=) c.5934T>C (p.Tyr1978=) c.9162T>C (p.Tyr3054=) | gnomAD v4 |
8 | g.99853691T>G | CA371781403 | VPS13B | c.10377T>G (p.Tyr3459Ter) n.10447T>G c.*6059T>G (n.*6059T>G) c.10302T>G (p.Tyr3434Ter) c.10374T>G (p.Tyr3458Ter) c.10299T>G (p.Tyr3433Ter) c.9999T>G (p.Tyr3333Ter) c.7263T>G (p.Tyr2421Ter) c.6156T>G (p.Tyr2052Ter) c.10182T>G (p.Tyr3394Ter) c.5934T>G (p.Tyr1978Ter) c.9162T>G (p.Tyr3054Ter) | |
8 | g.99853692A>C | CA371781438 | VPS13B | c.10378A>C (p.Asn3460His) n.10448A>C c.*6060A>C (n.*6060A>C) c.10303A>C (p.Asn3435His) c.10375A>C (p.Asn3459His) c.10300A>C (p.Asn3434His) c.10000A>C (p.Asn3334His) c.7264A>C (p.Asn2422His) c.6157A>C (p.Asn2053His) c.10183A>C (p.Asn3395His) c.5935A>C (p.Asn1979His) c.9163A>C (p.Asn3055His) | |
8 | g.99853692A>G | CA371781440 | VPS13B | c.10378A>G (p.Asn3460Asp) n.10448A>G c.*6060A>G (n.*6060A>G) c.10303A>G (p.Asn3435Asp) c.10375A>G (p.Asn3459Asp) c.10300A>G (p.Asn3434Asp) c.10000A>G (p.Asn3334Asp) c.7264A>G (p.Asn2422Asp) c.6157A>G (p.Asn2053Asp) c.10183A>G (p.Asn3395Asp) c.5935A>G (p.Asn1979Asp) c.9163A>G (p.Asn3055Asp) | |
8 | g.99853692A>T | CA371781442 | VPS13B | c.10378A>T (p.Asn3460Tyr) n.10448A>T c.*6060A>T (n.*6060A>T) c.10303A>T (p.Asn3435Tyr) c.10375A>T (p.Asn3459Tyr) c.10300A>T (p.Asn3434Tyr) c.10000A>T (p.Asn3334Tyr) c.7264A>T (p.Asn2422Tyr) c.6157A>T (p.Asn2053Tyr) c.10183A>T (p.Asn3395Tyr) c.5935A>T (p.Asn1979Tyr) c.9163A>T (p.Asn3055Tyr) | |
8 | g.99853693A>C | CA371781451 | VPS13B | c.10379A>C (p.Asn3460Thr) n.10449A>C c.*6061A>C (n.*6061A>C) c.10304A>C (p.Asn3435Thr) c.10376A>C (p.Asn3459Thr) c.10301A>C (p.Asn3434Thr) c.10001A>C (p.Asn3334Thr) c.7265A>C (p.Asn2422Thr) c.6158A>C (p.Asn2053Thr) c.10184A>C (p.Asn3395Thr) c.5936A>C (p.Asn1979Thr) c.9164A>C (p.Asn3055Thr) | |
8 | g.99853693A>G | CA371781454 | VPS13B | c.10379A>G (p.Asn3460Ser) n.10449A>G c.*6061A>G (n.*6061A>G) c.10304A>G (p.Asn3435Ser) c.10376A>G (p.Asn3459Ser) c.10301A>G (p.Asn3434Ser) c.10001A>G (p.Asn3334Ser) c.7265A>G (p.Asn2422Ser) c.6158A>G (p.Asn2053Ser) c.10184A>G (p.Asn3395Ser) c.5936A>G (p.Asn1979Ser) c.9164A>G (p.Asn3055Ser) | |
8 | g.99853693A>T | CA371781456 | VPS13B | c.10379A>T (p.Asn3460Ile) n.10449A>T c.*6061A>T (n.*6061A>T) c.10304A>T (p.Asn3435Ile) c.10376A>T (p.Asn3459Ile) c.10301A>T (p.Asn3434Ile) c.10001A>T (p.Asn3334Ile) c.7265A>T (p.Asn2422Ile) c.6158A>T (p.Asn2053Ile) c.10184A>T (p.Asn3395Ile) c.5936A>T (p.Asn1979Ile) c.9164A>T (p.Asn3055Ile) | |
8 | g.99853694C>A | CA371781457 | VPS13B | c.10380C>A (p.Asn3460Lys) n.10450C>A c.*6062C>A (n.*6062C>A) c.10305C>A (p.Asn3435Lys) c.10377C>A (p.Asn3459Lys) c.10302C>A (p.Asn3434Lys) c.10002C>A (p.Asn3334Lys) c.7266C>A (p.Asn2422Lys) c.6159C>A (p.Asn2053Lys) c.10185C>A (p.Asn3395Lys) c.5937C>A (p.Asn1979Lys) c.9165C>A (p.Asn3055Lys) | |
8 | g.99853694C>G | CA371781459 | VPS13B | c.10380C>G (p.Asn3460Lys) n.10450C>G c.*6062C>G (n.*6062C>G) c.10305C>G (p.Asn3435Lys) c.10377C>G (p.Asn3459Lys) c.10302C>G (p.Asn3434Lys) c.10002C>G (p.Asn3334Lys) c.7266C>G (p.Asn2422Lys) c.6159C>G (p.Asn2053Lys) c.10185C>G (p.Asn3395Lys) c.5937C>G (p.Asn1979Lys) c.9165C>G (p.Asn3055Lys) | |
8 | g.99853694C>T | CA462458191 | VPS13B | c.10380C>T (p.Asn3460=) n.10450C>T c.*6062C>T (n.*6062C>T) c.10305C>T (p.Asn3435=) c.10377C>T (p.Asn3459=) c.10302C>T (p.Asn3434=) c.10002C>T (p.Asn3334=) c.7266C>T (p.Asn2422=) c.6159C>T (p.Asn2053=) c.10185C>T (p.Asn3395=) c.5937C>T (p.Asn1979=) c.9165C>T (p.Asn3055=) | |
8 | g.99853695A>C | CA371781462 | VPS13B | c.10381A>C (p.Lys3461Gln) n.10451A>C c.*6063A>C (n.*6063A>C) c.10306A>C (p.Lys3436Gln) c.10378A>C (p.Lys3460Gln) c.10303A>C (p.Lys3435Gln) c.10003A>C (p.Lys3335Gln) c.7267A>C (p.Lys2423Gln) c.6160A>C (p.Lys2054Gln) c.10186A>C (p.Lys3396Gln) c.5938A>C (p.Lys1980Gln) c.9166A>C (p.Lys3056Gln) | |
8 | g.99853695A>G | CA371781464 | VPS13B | c.10381A>G (p.Lys3461Glu) n.10451A>G c.*6063A>G (n.*6063A>G) c.10306A>G (p.Lys3436Glu) c.10378A>G (p.Lys3460Glu) c.10303A>G (p.Lys3435Glu) c.10003A>G (p.Lys3335Glu) c.7267A>G (p.Lys2423Glu) c.6160A>G (p.Lys2054Glu) c.10186A>G (p.Lys3396Glu) c.5938A>G (p.Lys1980Glu) c.9166A>G (p.Lys3056Glu) | gnomAD v4 |
8 | g.99853695A>T | CA371781465 | VPS13B | c.10381A>T (p.Lys3461Ter) n.10451A>T c.*6063A>T (n.*6063A>T) c.10306A>T (p.Lys3436Ter) c.10378A>T (p.Lys3460Ter) c.10303A>T (p.Lys3435Ter) c.10003A>T (p.Lys3335Ter) c.7267A>T (p.Lys2423Ter) c.6160A>T (p.Lys2054Ter) c.10186A>T (p.Lys3396Ter) c.5938A>T (p.Lys1980Ter) c.9166A>T (p.Lys3056Ter) | |
8 | g.99853696A>C | CA371781470 | VPS13B | c.10382A>C (p.Lys3461Thr) n.10452A>C c.*6064A>C (n.*6064A>C) c.10307A>C (p.Lys3436Thr) c.10379A>C (p.Lys3460Thr) c.10304A>C (p.Lys3435Thr) c.10004A>C (p.Lys3335Thr) c.7268A>C (p.Lys2423Thr) c.6161A>C (p.Lys2054Thr) c.10187A>C (p.Lys3396Thr) c.5939A>C (p.Lys1980Thr) c.9167A>C (p.Lys3056Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.99853696A>G | CA371781467 | VPS13B | c.10382A>G (p.Lys3461Arg) n.10452A>G c.*6064A>G (n.*6064A>G) c.10307A>G (p.Lys3436Arg) c.10379A>G (p.Lys3460Arg) c.10304A>G (p.Lys3435Arg) c.10004A>G (p.Lys3335Arg) c.7268A>G (p.Lys2423Arg) c.6161A>G (p.Lys2054Arg) c.10187A>G (p.Lys3396Arg) c.5939A>G (p.Lys1980Arg) c.9167A>G (p.Lys3056Arg) | |
8 | g.99853696A>T | CA371781468 | VPS13B | c.10382A>T (p.Lys3461Met) n.10452A>T c.*6064A>T (n.*6064A>T) c.10307A>T (p.Lys3436Met) c.10379A>T (p.Lys3460Met) c.10304A>T (p.Lys3435Met) c.10004A>T (p.Lys3335Met) c.7268A>T (p.Lys2423Met) c.6161A>T (p.Lys2054Met) c.10187A>T (p.Lys3396Met) c.5939A>T (p.Lys1980Met) c.9167A>T (p.Lys3056Met) | |
8 | g.99853697G>A | CA462458192 | VPS13B | c.10383G>A (p.Lys3461=) n.10453G>A c.*6065G>A (n.*6065G>A) c.10308G>A (p.Lys3436=) c.10380G>A (p.Lys3460=) c.10305G>A (p.Lys3435=) c.10005G>A (p.Lys3335=) c.7269G>A (p.Lys2423=) c.6162G>A (p.Lys2054=) c.10188G>A (p.Lys3396=) c.5940G>A (p.Lys1980=) c.9168G>A (p.Lys3056=) | gnomAD v4 COSMIC COSMIC |
8 | g.99853697G>C | CA371781474 | VPS13B | c.10383G>C (p.Lys3461Asn) n.10453G>C c.*6065G>C (n.*6065G>C) c.10308G>C (p.Lys3436Asn) c.10380G>C (p.Lys3460Asn) c.10305G>C (p.Lys3435Asn) c.10005G>C (p.Lys3335Asn) c.7269G>C (p.Lys2423Asn) c.6162G>C (p.Lys2054Asn) c.10188G>C (p.Lys3396Asn) c.5940G>C (p.Lys1980Asn) c.9168G>C (p.Lys3056Asn) | |
8 | g.99853697G>T | CA371781476 | VPS13B | c.10383G>T (p.Lys3461Asn) n.10453G>T c.*6065G>T (n.*6065G>T) c.10308G>T (p.Lys3436Asn) c.10380G>T (p.Lys3460Asn) c.10305G>T (p.Lys3435Asn) c.10005G>T (p.Lys3335Asn) c.7269G>T (p.Lys2423Asn) c.6162G>T (p.Lys2054Asn) c.10188G>T (p.Lys3396Asn) c.5940G>T (p.Lys1980Asn) c.9168G>T (p.Lys3056Asn) | |
8 | g.99853698T>A | CA371781477 | VPS13B | c.10384T>A (p.Ser3462Thr) n.10454T>A c.*6066T>A (n.*6066T>A) c.10309T>A (p.Ser3437Thr) c.10381T>A (p.Ser3461Thr) c.10306T>A (p.Ser3436Thr) c.10006T>A (p.Ser3336Thr) c.7270T>A (p.Ser2424Thr) c.6163T>A (p.Ser2055Thr) c.10189T>A (p.Ser3397Thr) c.5941T>A (p.Ser1981Thr) c.9169T>A (p.Ser3057Thr) | |
8 | g.99853698T>C | CA371781479 | VPS13B | c.10384T>C (p.Ser3462Pro) n.10454T>C c.*6066T>C (n.*6066T>C) c.10309T>C (p.Ser3437Pro) c.10381T>C (p.Ser3461Pro) c.10306T>C (p.Ser3436Pro) c.10006T>C (p.Ser3336Pro) c.7270T>C (p.Ser2424Pro) c.6163T>C (p.Ser2055Pro) c.10189T>C (p.Ser3397Pro) c.5941T>C (p.Ser1981Pro) c.9169T>C (p.Ser3057Pro) | |
8 | g.99853698T>G | CA371781481 | VPS13B | c.10384T>G (p.Ser3462Ala) n.10454T>G c.*6066T>G (n.*6066T>G) c.10309T>G (p.Ser3437Ala) c.10381T>G (p.Ser3461Ala) c.10306T>G (p.Ser3436Ala) c.10006T>G (p.Ser3336Ala) c.7270T>G (p.Ser2424Ala) c.6163T>G (p.Ser2055Ala) c.10189T>G (p.Ser3397Ala) c.5941T>G (p.Ser1981Ala) c.9169T>G (p.Ser3057Ala) | |
8 | g.99853699C>A | CA371781485 | VPS13B | c.10385C>A (p.Ser3462Tyr) n.10455C>A c.*6067C>A (n.*6067C>A) c.10310C>A (p.Ser3437Tyr) c.10382C>A (p.Ser3461Tyr) c.10307C>A (p.Ser3436Tyr) c.10007C>A (p.Ser3336Tyr) c.7271C>A (p.Ser2424Tyr) c.6164C>A (p.Ser2055Tyr) c.10190C>A (p.Ser3397Tyr) c.5942C>A (p.Ser1981Tyr) c.9170C>A (p.Ser3057Tyr) | |
8 | g.99853699C>G | CA371781487 | VPS13B | c.10385C>G (p.Ser3462Cys) n.10455C>G c.*6067C>G (n.*6067C>G) c.10310C>G (p.Ser3437Cys) c.10382C>G (p.Ser3461Cys) c.10307C>G (p.Ser3436Cys) c.10007C>G (p.Ser3336Cys) c.7271C>G (p.Ser2424Cys) c.6164C>G (p.Ser2055Cys) c.10190C>G (p.Ser3397Cys) c.5942C>G (p.Ser1981Cys) c.9170C>G (p.Ser3057Cys) | |
8 | g.99853699C>T | CA4824928 | VPS13B | c.10385C>T (p.Ser3462Phe) n.10455C>T c.*6067C>T (n.*6067C>T) c.10310C>T (p.Ser3437Phe) c.10382C>T (p.Ser3461Phe) c.10307C>T (p.Ser3436Phe) c.10007C>T (p.Ser3336Phe) c.7271C>T (p.Ser2424Phe) c.6164C>T (p.Ser2055Phe) c.10190C>T (p.Ser3397Phe) c.5942C>T (p.Ser1981Phe) c.9170C>T (p.Ser3057Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853700C>A | CA462458194 | VPS13B | c.10386C>A (p.Ser3462=) n.10456C>A c.*6068C>A (n.*6068C>A) c.10311C>A (p.Ser3437=) c.10383C>A (p.Ser3461=) c.10308C>A (p.Ser3436=) c.10008C>A (p.Ser3336=) c.7272C>A (p.Ser2424=) c.6165C>A (p.Ser2055=) c.10191C>A (p.Ser3397=) c.5943C>A (p.Ser1981=) c.9171C>A (p.Ser3057=) | |
8 | g.99853700C>G | CA462458196 | VPS13B | c.10386C>G (p.Ser3462=) n.10456C>G c.*6068C>G (n.*6068C>G) c.10311C>G (p.Ser3437=) c.10383C>G (p.Ser3461=) c.10308C>G (p.Ser3436=) c.10008C>G (p.Ser3336=) c.7272C>G (p.Ser2424=) c.6165C>G (p.Ser2055=) c.10191C>G (p.Ser3397=) c.5943C>G (p.Ser1981=) c.9171C>G (p.Ser3057=) | |
8 | g.99853700C>T | CA462458195 | VPS13B | c.10386C>T (p.Ser3462=) n.10456C>T c.*6068C>T (n.*6068C>T) c.10311C>T (p.Ser3437=) c.10383C>T (p.Ser3461=) c.10308C>T (p.Ser3436=) c.10008C>T (p.Ser3336=) c.7272C>T (p.Ser2424=) c.6165C>T (p.Ser2055=) c.10191C>T (p.Ser3397=) c.5943C>T (p.Ser1981=) c.9171C>T (p.Ser3057=) | |
8 | g.99853701A>C | CA371781492 | VPS13B | c.10387A>C (p.Asn3463His) n.10457A>C c.*6069A>C (n.*6069A>C) c.10312A>C (p.Asn3438His) c.10384A>C (p.Asn3462His) c.10309A>C (p.Asn3437His) c.10009A>C (p.Asn3337His) c.7273A>C (p.Asn2425His) c.6166A>C (p.Asn2056His) c.10192A>C (p.Asn3398His) c.5944A>C (p.Asn1982His) c.9172A>C (p.Asn3058His) | dbSNP |
8 | g.99853701A>G | CA371781494 | VPS13B | c.10387A>G (p.Asn3463Asp) n.10457A>G c.*6069A>G (n.*6069A>G) c.10312A>G (p.Asn3438Asp) c.10384A>G (p.Asn3462Asp) c.10309A>G (p.Asn3437Asp) c.10009A>G (p.Asn3337Asp) c.7273A>G (p.Asn2425Asp) c.6166A>G (p.Asn2056Asp) c.10192A>G (p.Asn3398Asp) c.5944A>G (p.Asn1982Asp) c.9172A>G (p.Asn3058Asp) | |
8 | g.99853701A>T | CA371781497 | VPS13B | c.10387A>T (p.Asn3463Tyr) n.10457A>T c.*6069A>T (n.*6069A>T) c.10312A>T (p.Asn3438Tyr) c.10384A>T (p.Asn3462Tyr) c.10309A>T (p.Asn3437Tyr) c.10009A>T (p.Asn3337Tyr) c.7273A>T (p.Asn2425Tyr) c.6166A>T (p.Asn2056Tyr) c.10192A>T (p.Asn3398Tyr) c.5944A>T (p.Asn1982Tyr) c.9172A>T (p.Asn3058Tyr) | |
8 | g.99853702A>C | CA371781502 | VPS13B | c.10388A>C (p.Asn3463Thr) n.10458A>C c.*6070A>C (n.*6070A>C) c.10313A>C (p.Asn3438Thr) c.10385A>C (p.Asn3462Thr) c.10310A>C (p.Asn3437Thr) c.10010A>C (p.Asn3337Thr) c.7274A>C (p.Asn2425Thr) c.6167A>C (p.Asn2056Thr) c.10193A>C (p.Asn3398Thr) c.5945A>C (p.Asn1982Thr) c.9173A>C (p.Asn3058Thr) | |
8 | g.99853702A>G | CA246442 | VPS13B | c.10388A>G (p.Asn3463Ser) n.10458A>G c.*6070A>G (n.*6070A>G) c.10313A>G (p.Asn3438Ser) c.10385A>G (p.Asn3462Ser) c.10310A>G (p.Asn3437Ser) c.10010A>G (p.Asn3337Ser) c.7274A>G (p.Asn2425Ser) c.6167A>G (p.Asn2056Ser) c.10193A>G (p.Asn3398Ser) c.5945A>G (p.Asn1982Ser) c.9173A>G (p.Asn3058Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853702A>T | CA371781499 | VPS13B | c.10388A>T (p.Asn3463Ile) n.10458A>T c.*6070A>T (n.*6070A>T) c.10313A>T (p.Asn3438Ile) c.10385A>T (p.Asn3462Ile) c.10310A>T (p.Asn3437Ile) c.10010A>T (p.Asn3337Ile) c.7274A>T (p.Asn2425Ile) c.6167A>T (p.Asn2056Ile) c.10193A>T (p.Asn3398Ile) c.5945A>T (p.Asn1982Ile) c.9173A>T (p.Asn3058Ile) | |
8 | g.99853703T>A | CA371781504 | VPS13B | c.10389T>A (p.Asn3463Lys) n.10459T>A c.*6071T>A (n.*6071T>A) c.10314T>A (p.Asn3438Lys) c.10386T>A (p.Asn3462Lys) c.10311T>A (p.Asn3437Lys) c.10011T>A (p.Asn3337Lys) c.7275T>A (p.Asn2425Lys) c.6168T>A (p.Asn2056Lys) c.10194T>A (p.Asn3398Lys) c.5946T>A (p.Asn1982Lys) c.9174T>A (p.Asn3058Lys) | |
8 | g.99853703T>C | CA462458198 | VPS13B | c.10389T>C (p.Asn3463=) n.10459T>C c.*6071T>C (n.*6071T>C) c.10314T>C (p.Asn3438=) c.10386T>C (p.Asn3462=) c.10311T>C (p.Asn3437=) c.10011T>C (p.Asn3337=) c.7275T>C (p.Asn2425=) c.6168T>C (p.Asn2056=) c.10194T>C (p.Asn3398=) c.5946T>C (p.Asn1982=) c.9174T>C (p.Asn3058=) | |
8 | g.99853703T>G | CA371781507 | VPS13B | c.10389T>G (p.Asn3463Lys) n.10459T>G c.*6071T>G (n.*6071T>G) c.10314T>G (p.Asn3438Lys) c.10386T>G (p.Asn3462Lys) c.10311T>G (p.Asn3437Lys) c.10011T>G (p.Asn3337Lys) c.7275T>G (p.Asn2425Lys) c.6168T>G (p.Asn2056Lys) c.10194T>G (p.Asn3398Lys) c.5946T>G (p.Asn1982Lys) c.9174T>G (p.Asn3058Lys) | |
8 | g.99853704T>A | CA371781510 | VPS13B | c.10390T>A (p.Phe3464Ile) n.10460T>A c.*6072T>A (n.*6072T>A) c.10315T>A (p.Phe3439Ile) c.10387T>A (p.Phe3463Ile) c.10312T>A (p.Phe3438Ile) c.10012T>A (p.Phe3338Ile) c.7276T>A (p.Phe2426Ile) c.6169T>A (p.Phe2057Ile) c.10195T>A (p.Phe3399Ile) c.5947T>A (p.Phe1983Ile) c.9175T>A (p.Phe3059Ile) | |
8 | g.99853704T>C | CA371781512 | VPS13B | c.10390T>C (p.Phe3464Leu) n.10460T>C c.*6072T>C (n.*6072T>C) c.10315T>C (p.Phe3439Leu) c.10387T>C (p.Phe3463Leu) c.10312T>C (p.Phe3438Leu) c.10012T>C (p.Phe3338Leu) c.7276T>C (p.Phe2426Leu) c.6169T>C (p.Phe2057Leu) c.10195T>C (p.Phe3399Leu) c.5947T>C (p.Phe1983Leu) c.9175T>C (p.Phe3059Leu) | |
8 | g.99853704T>G | CA371781513 | VPS13B | c.10390T>G (p.Phe3464Val) n.10460T>G c.*6072T>G (n.*6072T>G) c.10315T>G (p.Phe3439Val) c.10387T>G (p.Phe3463Val) c.10312T>G (p.Phe3438Val) c.10012T>G (p.Phe3338Val) c.7276T>G (p.Phe2426Val) c.6169T>G (p.Phe2057Val) c.10195T>G (p.Phe3399Val) c.5947T>G (p.Phe1983Val) c.9175T>G (p.Phe3059Val) | |
8 | g.99853705T>A | CA371781515 | VPS13B | c.10391T>A (p.Phe3464Tyr) n.10461T>A c.*6073T>A (n.*6073T>A) c.10316T>A (p.Phe3439Tyr) c.10388T>A (p.Phe3463Tyr) c.10313T>A (p.Phe3438Tyr) c.10013T>A (p.Phe3338Tyr) c.7277T>A (p.Phe2426Tyr) c.6170T>A (p.Phe2057Tyr) c.10196T>A (p.Phe3399Tyr) c.5948T>A (p.Phe1983Tyr) c.9176T>A (p.Phe3059Tyr) | |
8 | g.99853705T>C | CA371781518 | VPS13B | c.10391T>C (p.Phe3464Ser) n.10461T>C c.*6073T>C (n.*6073T>C) c.10316T>C (p.Phe3439Ser) c.10388T>C (p.Phe3463Ser) c.10313T>C (p.Phe3438Ser) c.10013T>C (p.Phe3338Ser) c.7277T>C (p.Phe2426Ser) c.6170T>C (p.Phe2057Ser) c.10196T>C (p.Phe3399Ser) c.5948T>C (p.Phe1983Ser) c.9176T>C (p.Phe3059Ser) | |
8 | g.99853705T>G | CA371781521 | VPS13B | c.10391T>G (p.Phe3464Cys) n.10461T>G c.*6073T>G (n.*6073T>G) c.10316T>G (p.Phe3439Cys) c.10388T>G (p.Phe3463Cys) c.10313T>G (p.Phe3438Cys) c.10013T>G (p.Phe3338Cys) c.7277T>G (p.Phe2426Cys) c.6170T>G (p.Phe2057Cys) c.10196T>G (p.Phe3399Cys) c.5948T>G (p.Phe1983Cys) c.9176T>G (p.Phe3059Cys) | |
8 | g.99853706C>A | CA371781524 | VPS13B | c.10392C>A (p.Phe3464Leu) n.10462C>A c.*6074C>A (n.*6074C>A) c.10317C>A (p.Phe3439Leu) c.10389C>A (p.Phe3463Leu) c.10314C>A (p.Phe3438Leu) c.10014C>A (p.Phe3338Leu) c.7278C>A (p.Phe2426Leu) c.6171C>A (p.Phe2057Leu) c.10197C>A (p.Phe3399Leu) c.5949C>A (p.Phe1983Leu) c.9177C>A (p.Phe3059Leu) | |
8 | g.99853706C>G | CA371781526 | VPS13B | c.10392C>G (p.Phe3464Leu) n.10462C>G c.*6074C>G (n.*6074C>G) c.10317C>G (p.Phe3439Leu) c.10389C>G (p.Phe3463Leu) c.10314C>G (p.Phe3438Leu) c.10014C>G (p.Phe3338Leu) c.7278C>G (p.Phe2426Leu) c.6171C>G (p.Phe2057Leu) c.10197C>G (p.Phe3399Leu) c.5949C>G (p.Phe1983Leu) c.9177C>G (p.Phe3059Leu) | gnomAD v4 |
8 | g.99853706C>T | CA462458199 | VPS13B | c.10392C>T (p.Phe3464=) n.10462C>T c.*6074C>T (n.*6074C>T) c.10317C>T (p.Phe3439=) c.10389C>T (p.Phe3463=) c.10314C>T (p.Phe3438=) c.10014C>T (p.Phe3338=) c.7278C>T (p.Phe2426=) c.6171C>T (p.Phe2057=) c.10197C>T (p.Phe3399=) c.5949C>T (p.Phe1983=) c.9177C>T (p.Phe3059=) | |
8 | g.99853707C>A | CA371781530 | VPS13B | c.10393C>A (p.His3465Asn) n.10463C>A c.*6075C>A (n.*6075C>A) c.10318C>A (p.His3440Asn) c.10390C>A (p.His3464Asn) c.10315C>A (p.His3439Asn) c.10015C>A (p.His3339Asn) c.7279C>A (p.His2427Asn) c.6172C>A (p.His2058Asn) c.10198C>A (p.His3400Asn) c.5950C>A (p.His1984Asn) c.9178C>A (p.His3060Asn) | |
8 | g.99853707C>G | CA371781532 | VPS13B | c.10393C>G (p.His3465Asp) n.10463C>G c.*6075C>G (n.*6075C>G) c.10318C>G (p.His3440Asp) c.10390C>G (p.His3464Asp) c.10315C>G (p.His3439Asp) c.10015C>G (p.His3339Asp) c.7279C>G (p.His2427Asp) c.6172C>G (p.His2058Asp) c.10198C>G (p.His3400Asp) c.5950C>G (p.His1984Asp) c.9178C>G (p.His3060Asp) | |
8 | g.99853707C>T | CA4824929 | VPS13B | c.10393C>T (p.His3465Tyr) n.10463C>T c.*6075C>T (n.*6075C>T) c.10318C>T (p.His3440Tyr) c.10390C>T (p.His3464Tyr) c.10315C>T (p.His3439Tyr) c.10015C>T (p.His3339Tyr) c.7279C>T (p.His2427Tyr) c.6172C>T (p.His2058Tyr) c.10198C>T (p.His3400Tyr) c.5950C>T (p.His1984Tyr) c.9178C>T (p.His3060Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853708A>C | CA371781541 | VPS13B | c.10394A>C (p.His3465Pro) n.10464A>C c.*6076A>C (n.*6076A>C) c.10319A>C (p.His3440Pro) c.10391A>C (p.His3464Pro) c.10316A>C (p.His3439Pro) c.10016A>C (p.His3339Pro) c.7280A>C (p.His2427Pro) c.6173A>C (p.His2058Pro) c.10199A>C (p.His3400Pro) c.5951A>C (p.His1984Pro) c.9179A>C (p.His3060Pro) | |
8 | g.99853708A>G | CA4824930 | VPS13B | c.10394A>G (p.His3465Arg) n.10464A>G c.*6076A>G (n.*6076A>G) c.10319A>G (p.His3440Arg) c.10391A>G (p.His3464Arg) c.10316A>G (p.His3439Arg) c.10016A>G (p.His3339Arg) c.7280A>G (p.His2427Arg) c.6173A>G (p.His2058Arg) c.10199A>G (p.His3400Arg) c.5951A>G (p.His1984Arg) c.9179A>G (p.His3060Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853708A>T | CA371781538 | VPS13B | c.10394A>T (p.His3465Leu) n.10464A>T c.*6076A>T (n.*6076A>T) c.10319A>T (p.His3440Leu) c.10391A>T (p.His3464Leu) c.10316A>T (p.His3439Leu) c.10016A>T (p.His3339Leu) c.7280A>T (p.His2427Leu) c.6173A>T (p.His2058Leu) c.10199A>T (p.His3400Leu) c.5951A>T (p.His1984Leu) c.9179A>T (p.His3060Leu) | |
8 | g.99853709C>A | CA371781544 | VPS13B | c.10395C>A (p.His3465Gln) n.10465C>A c.*6077C>A (n.*6077C>A) c.10320C>A (p.His3440Gln) c.10392C>A (p.His3464Gln) c.10317C>A (p.His3439Gln) c.10017C>A (p.His3339Gln) c.7281C>A (p.His2427Gln) c.6174C>A (p.His2058Gln) c.10200C>A (p.His3400Gln) c.5952C>A (p.His1984Gln) c.9180C>A (p.His3060Gln) | COSMIC COSMIC |
8 | g.99853709C>G | CA371781546 | VPS13B | c.10395C>G (p.His3465Gln) n.10465C>G c.*6077C>G (n.*6077C>G) c.10320C>G (p.His3440Gln) c.10392C>G (p.His3464Gln) c.10317C>G (p.His3439Gln) c.10017C>G (p.His3339Gln) c.7281C>G (p.His2427Gln) c.6174C>G (p.His2058Gln) c.10200C>G (p.His3400Gln) c.5952C>G (p.His1984Gln) c.9180C>G (p.His3060Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853709C>T | CA4824931 | VPS13B | c.10395C>T (p.His3465=) n.10465C>T c.*6077C>T (n.*6077C>T) c.10320C>T (p.His3440=) c.10392C>T (p.His3464=) c.10317C>T (p.His3439=) c.10017C>T (p.His3339=) c.7281C>T (p.His2427=) c.6174C>T (p.His2058=) c.10200C>T (p.His3400=) c.5952C>T (p.His1984=) c.9180C>T (p.His3060=) | ClinVar dbSNP ExAC |
8 | g.99853710T>A | CA371781551 | VPS13B | c.10396T>A (p.Phe3466Ile) n.10466T>A c.*6078T>A (n.*6078T>A) c.10321T>A (p.Phe3441Ile) c.10393T>A (p.Phe3465Ile) c.10318T>A (p.Phe3440Ile) c.10018T>A (p.Phe3340Ile) c.7282T>A (p.Phe2428Ile) c.6175T>A (p.Phe2059Ile) c.10201T>A (p.Phe3401Ile) c.5953T>A (p.Phe1985Ile) c.9181T>A (p.Phe3061Ile) | |
8 | g.99853710T>C | CA371781553 | VPS13B | c.10396T>C (p.Phe3466Leu) n.10466T>C c.*6078T>C (n.*6078T>C) c.10321T>C (p.Phe3441Leu) c.10393T>C (p.Phe3465Leu) c.10318T>C (p.Phe3440Leu) c.10018T>C (p.Phe3340Leu) c.7282T>C (p.Phe2428Leu) c.6175T>C (p.Phe2059Leu) c.10201T>C (p.Phe3401Leu) c.5953T>C (p.Phe1985Leu) c.9181T>C (p.Phe3061Leu) | |
8 | g.99853710T>G | CA371781560 | VPS13B | c.10396T>G (p.Phe3466Val) n.10466T>G c.*6078T>G (n.*6078T>G) c.10321T>G (p.Phe3441Val) c.10393T>G (p.Phe3465Val) c.10318T>G (p.Phe3440Val) c.10018T>G (p.Phe3340Val) c.7282T>G (p.Phe2428Val) c.6175T>G (p.Phe2059Val) c.10201T>G (p.Phe3401Val) c.5953T>G (p.Phe1985Val) c.9181T>G (p.Phe3061Val) | |
8 | g.99853711T>A | CA371781562 | VPS13B | c.10397T>A (p.Phe3466Tyr) n.10467T>A c.*6079T>A (n.*6079T>A) c.10322T>A (p.Phe3441Tyr) c.10394T>A (p.Phe3465Tyr) c.10319T>A (p.Phe3440Tyr) c.10019T>A (p.Phe3340Tyr) c.7283T>A (p.Phe2428Tyr) c.6176T>A (p.Phe2059Tyr) c.10202T>A (p.Phe3401Tyr) c.5954T>A (p.Phe1985Tyr) c.9182T>A (p.Phe3061Tyr) | |
8 | g.99853711T>C | CA371781563 | VPS13B | c.10397T>C (p.Phe3466Ser) n.10467T>C c.*6079T>C (n.*6079T>C) c.10322T>C (p.Phe3441Ser) c.10394T>C (p.Phe3465Ser) c.10319T>C (p.Phe3440Ser) c.10019T>C (p.Phe3340Ser) c.7283T>C (p.Phe2428Ser) c.6176T>C (p.Phe2059Ser) c.10202T>C (p.Phe3401Ser) c.5954T>C (p.Phe1985Ser) c.9182T>C (p.Phe3061Ser) | |
8 | g.99853711T>G | CA371781564 | VPS13B | c.10397T>G (p.Phe3466Cys) n.10467T>G c.*6079T>G (n.*6079T>G) c.10322T>G (p.Phe3441Cys) c.10394T>G (p.Phe3465Cys) c.10319T>G (p.Phe3440Cys) c.10019T>G (p.Phe3340Cys) c.7283T>G (p.Phe2428Cys) c.6176T>G (p.Phe2059Cys) c.10202T>G (p.Phe3401Cys) c.5954T>G (p.Phe1985Cys) c.9182T>G (p.Phe3061Cys) | |
8 | g.99853712T>A | CA371781566 | VPS13B | c.10398T>A (p.Phe3466Leu) n.10468T>A c.*6080T>A (n.*6080T>A) c.10323T>A (p.Phe3441Leu) c.10395T>A (p.Phe3465Leu) c.10320T>A (p.Phe3440Leu) c.10020T>A (p.Phe3340Leu) c.7284T>A (p.Phe2428Leu) c.6177T>A (p.Phe2059Leu) c.10203T>A (p.Phe3401Leu) c.5955T>A (p.Phe1985Leu) c.9183T>A (p.Phe3061Leu) | |
8 | g.99853712T>C | CA462458202 | VPS13B | c.10398T>C (p.Phe3466=) n.10468T>C c.*6080T>C (n.*6080T>C) c.10323T>C (p.Phe3441=) c.10395T>C (p.Phe3465=) c.10320T>C (p.Phe3440=) c.10020T>C (p.Phe3340=) c.7284T>C (p.Phe2428=) c.6177T>C (p.Phe2059=) c.10203T>C (p.Phe3401=) c.5955T>C (p.Phe1985=) c.9183T>C (p.Phe3061=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853712T>G | CA4824932 | VPS13B | c.10398T>G (p.Phe3466Leu) n.10468T>G c.*6080T>G (n.*6080T>G) c.10323T>G (p.Phe3441Leu) c.10395T>G (p.Phe3465Leu) c.10320T>G (p.Phe3440Leu) c.10020T>G (p.Phe3340Leu) c.7284T>G (p.Phe2428Leu) c.6177T>G (p.Phe2059Leu) c.10203T>G (p.Phe3401Leu) c.5955T>G (p.Phe1985Leu) c.9183T>G (p.Phe3061Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853713G>A | CA371781575 | VPS13B | c.10399G>A (p.Ala3467Thr) n.10469G>A c.*6081G>A (n.*6081G>A) c.10324G>A (p.Ala3442Thr) c.10396G>A (p.Ala3466Thr) c.10321G>A (p.Ala3441Thr) c.10021G>A (p.Ala3341Thr) c.7285G>A (p.Ala2429Thr) c.6178G>A (p.Ala2060Thr) c.10204G>A (p.Ala3402Thr) c.5956G>A (p.Ala1986Thr) c.9184G>A (p.Ala3062Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853713G>C | CA371781574 | VPS13B | c.10399G>C (p.Ala3467Pro) n.10469G>C c.*6081G>C (n.*6081G>C) c.10324G>C (p.Ala3442Pro) c.10396G>C (p.Ala3466Pro) c.10321G>C (p.Ala3441Pro) c.10021G>C (p.Ala3341Pro) c.7285G>C (p.Ala2429Pro) c.6178G>C (p.Ala2060Pro) c.10204G>C (p.Ala3402Pro) c.5956G>C (p.Ala1986Pro) c.9184G>C (p.Ala3062Pro) | |
8 | g.99853713G>T | CA371781571 | VPS13B | c.10399G>T (p.Ala3467Ser) n.10469G>T c.*6081G>T (n.*6081G>T) c.10324G>T (p.Ala3442Ser) c.10396G>T (p.Ala3466Ser) c.10321G>T (p.Ala3441Ser) c.10021G>T (p.Ala3341Ser) c.7285G>T (p.Ala2429Ser) c.6178G>T (p.Ala2060Ser) c.10204G>T (p.Ala3402Ser) c.5956G>T (p.Ala1986Ser) c.9184G>T (p.Ala3062Ser) | |
8 | g.99853714C>A | CA371781577 | VPS13B | c.10400C>A (p.Ala3467Asp) n.10470C>A c.*6082C>A (n.*6082C>A) c.10325C>A (p.Ala3442Asp) c.10397C>A (p.Ala3466Asp) c.10322C>A (p.Ala3441Asp) c.10022C>A (p.Ala3341Asp) c.7286C>A (p.Ala2429Asp) c.6179C>A (p.Ala2060Asp) c.10205C>A (p.Ala3402Asp) c.5957C>A (p.Ala1986Asp) c.9185C>A (p.Ala3062Asp) | |
8 | g.99853714C>G | CA371781582 | VPS13B | c.10400C>G (p.Ala3467Gly) n.10470C>G c.*6082C>G (n.*6082C>G) c.10325C>G (p.Ala3442Gly) c.10397C>G (p.Ala3466Gly) c.10322C>G (p.Ala3441Gly) c.10022C>G (p.Ala3341Gly) c.7286C>G (p.Ala2429Gly) c.6179C>G (p.Ala2060Gly) c.10205C>G (p.Ala3402Gly) c.5957C>G (p.Ala1986Gly) c.9185C>G (p.Ala3062Gly) | |
8 | g.99853714C>T | CA371781579 | VPS13B | c.10400C>T (p.Ala3467Val) n.10470C>T c.*6082C>T (n.*6082C>T) c.10325C>T (p.Ala3442Val) c.10397C>T (p.Ala3466Val) c.10322C>T (p.Ala3441Val) c.10022C>T (p.Ala3341Val) c.7286C>T (p.Ala2429Val) c.6179C>T (p.Ala2060Val) c.10205C>T (p.Ala3402Val) c.5957C>T (p.Ala1986Val) c.9185C>T (p.Ala3062Val) | ClinVar |
8 | g.99853715T>A | CA462458203 | VPS13B | c.10401T>A (p.Ala3467=) n.10471T>A c.*6083T>A (n.*6083T>A) c.10326T>A (p.Ala3442=) c.10398T>A (p.Ala3466=) c.10323T>A (p.Ala3441=) c.10023T>A (p.Ala3341=) c.7287T>A (p.Ala2429=) c.6180T>A (p.Ala2060=) c.10206T>A (p.Ala3402=) c.5958T>A (p.Ala1986=) c.9186T>A (p.Ala3062=) | gnomAD v4 |
8 | g.99853715T>C | CA462458205 | VPS13B | c.10401T>C (p.Ala3467=) n.10471T>C c.*6083T>C (n.*6083T>C) c.10326T>C (p.Ala3442=) c.10398T>C (p.Ala3466=) c.10323T>C (p.Ala3441=) c.10023T>C (p.Ala3341=) c.7287T>C (p.Ala2429=) c.6180T>C (p.Ala2060=) c.10206T>C (p.Ala3402=) c.5958T>C (p.Ala1986=) c.9186T>C (p.Ala3062=) | |
8 | g.99853715T>G | CA462458206 | VPS13B | c.10401T>G (p.Ala3467=) n.10471T>G c.*6083T>G (n.*6083T>G) c.10326T>G (p.Ala3442=) c.10398T>G (p.Ala3466=) c.10323T>G (p.Ala3441=) c.10023T>G (p.Ala3341=) c.7287T>G (p.Ala2429=) c.6180T>G (p.Ala2060=) c.10206T>G (p.Ala3402=) c.5958T>G (p.Ala1986=) c.9186T>G (p.Ala3062=) | ClinVar dbSNP gnomAD v4 |
8 | g.99853716del | CA1139660676 | VPS13B | c.10402del (p.Val3468SerfsTer2) n.10472del c.*6084del (n.*6084del) c.10327del (p.Val3443SerfsTer2) c.10399del (p.Val3467SerfsTer2) c.10324del (p.Val3442SerfsTer2) c.10024del (p.Val3342SerfsTer2) c.7288del (p.Val2430SerfsTer2) c.6181del (p.Val2061SerfsTer2) c.10207del (p.Val3403SerfsTer2) c.5959del (p.Val1987SerfsTer2) c.9187del (p.Val3063SerfsTer2) | ClinVar dbSNP |
8 | g.99853716G>A | CA371781584 | VPS13B | c.10402G>A (p.Val3468Ile) n.10472G>A c.*6084G>A (n.*6084G>A) c.10327G>A (p.Val3443Ile) c.10399G>A (p.Val3467Ile) c.10324G>A (p.Val3442Ile) c.10024G>A (p.Val3342Ile) c.7288G>A (p.Val2430Ile) c.6181G>A (p.Val2061Ile) c.10207G>A (p.Val3403Ile) c.5959G>A (p.Val1987Ile) c.9187G>A (p.Val3063Ile) | |
8 | g.99853716G>C | CA4824933 | VPS13B | c.10402G>C (p.Val3468Leu) n.10472G>C c.*6084G>C (n.*6084G>C) c.10327G>C (p.Val3443Leu) c.10399G>C (p.Val3467Leu) c.10324G>C (p.Val3442Leu) c.10024G>C (p.Val3342Leu) c.7288G>C (p.Val2430Leu) c.6181G>C (p.Val2061Leu) c.10207G>C (p.Val3403Leu) c.5959G>C (p.Val1987Leu) c.9187G>C (p.Val3063Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853716G>T | CA371781585 | VPS13B | c.10402G>T (p.Val3468Phe) n.10472G>T c.*6084G>T (n.*6084G>T) c.10327G>T (p.Val3443Phe) c.10399G>T (p.Val3467Phe) c.10324G>T (p.Val3442Phe) c.10024G>T (p.Val3342Phe) c.7288G>T (p.Val2430Phe) c.6181G>T (p.Val2061Phe) c.10207G>T (p.Val3403Phe) c.5959G>T (p.Val1987Phe) c.9187G>T (p.Val3063Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99853717T>A | CA371781587 | VPS13B | c.10403T>A (p.Val3468Asp) n.10473T>A c.*6085T>A (n.*6085T>A) c.10328T>A (p.Val3443Asp) c.10400T>A (p.Val3467Asp) c.10325T>A (p.Val3442Asp) c.10025T>A (p.Val3342Asp) c.7289T>A (p.Val2430Asp) c.6182T>A (p.Val2061Asp) c.10208T>A (p.Val3403Asp) c.5960T>A (p.Val1987Asp) c.9188T>A (p.Val3063Asp) | |
8 | g.99853717T>C | CA371781589 | VPS13B | c.10403T>C (p.Val3468Ala) n.10473T>C c.*6085T>C (n.*6085T>C) c.10328T>C (p.Val3443Ala) c.10400T>C (p.Val3467Ala) c.10325T>C (p.Val3442Ala) c.10025T>C (p.Val3342Ala) c.7289T>C (p.Val2430Ala) c.6182T>C (p.Val2061Ala) c.10208T>C (p.Val3403Ala) c.5960T>C (p.Val1987Ala) c.9188T>C (p.Val3063Ala) | |
8 | g.99853717T>G | CA371781591 | VPS13B | c.10403T>G (p.Val3468Gly) n.10473T>G c.*6085T>G (n.*6085T>G) c.10328T>G (p.Val3443Gly) c.10400T>G (p.Val3467Gly) c.10325T>G (p.Val3442Gly) c.10025T>G (p.Val3342Gly) c.7289T>G (p.Val2430Gly) c.6182T>G (p.Val2061Gly) c.10208T>G (p.Val3403Gly) c.5960T>G (p.Val1987Gly) c.9188T>G (p.Val3063Gly) | |
8 | g.99853718C>A | CA462458207 | VPS13B | c.10404C>A (p.Val3468=) n.10474C>A c.*6086C>A (n.*6086C>A) c.10329C>A (p.Val3443=) c.10401C>A (p.Val3467=) c.10326C>A (p.Val3442=) c.10026C>A (p.Val3342=) c.7290C>A (p.Val2430=) c.6183C>A (p.Val2061=) c.10209C>A (p.Val3403=) c.5961C>A (p.Val1987=) c.9189C>A (p.Val3063=) | |
8 | g.99853718C>G | CA462458208 | VPS13B | c.10404C>G (p.Val3468=) n.10474C>G c.*6086C>G (n.*6086C>G) c.10329C>G (p.Val3443=) c.10401C>G (p.Val3467=) c.10326C>G (p.Val3442=) c.10026C>G (p.Val3342=) c.7290C>G (p.Val2430=) c.6183C>G (p.Val2061=) c.10209C>G (p.Val3403=) c.5961C>G (p.Val1987=) c.9189C>G (p.Val3063=) | |
8 | g.99853718C>T | CA462458209 | VPS13B | c.10404C>T (p.Val3468=) n.10474C>T c.*6086C>T (n.*6086C>T) c.10329C>T (p.Val3443=) c.10401C>T (p.Val3467=) c.10326C>T (p.Val3442=) c.10026C>T (p.Val3342=) c.7290C>T (p.Val2430=) c.6183C>T (p.Val2061=) c.10209C>T (p.Val3403=) c.5961C>T (p.Val1987=) c.9189C>T (p.Val3063=) | |
8 | g.99853719T>A | CA371781593 | VPS13B | c.10405T>A (p.Leu3469Ile) n.10475T>A c.*6087T>A (n.*6087T>A) c.10330T>A (p.Leu3444Ile) c.10402T>A (p.Leu3468Ile) c.10327T>A (p.Leu3443Ile) c.10027T>A (p.Leu3343Ile) c.7291T>A (p.Leu2431Ile) c.6184T>A (p.Leu2062Ile) c.10210T>A (p.Leu3404Ile) c.5962T>A (p.Leu1988Ile) c.9190T>A (p.Leu3064Ile) | |
8 | g.99853719T>C | CA462458210 | VPS13B | c.10405T>C (p.Leu3469=) n.10475T>C c.*6087T>C (n.*6087T>C) c.10330T>C (p.Leu3444=) c.10402T>C (p.Leu3468=) c.10327T>C (p.Leu3443=) c.10027T>C (p.Leu3343=) c.7291T>C (p.Leu2431=) c.6184T>C (p.Leu2062=) c.10210T>C (p.Leu3404=) c.5962T>C (p.Leu1988=) c.9190T>C (p.Leu3064=) | |
8 | g.99853719T>G | CA371781595 | VPS13B | c.10405T>G (p.Leu3469Val) n.10475T>G c.*6087T>G (n.*6087T>G) c.10330T>G (p.Leu3444Val) c.10402T>G (p.Leu3468Val) c.10327T>G (p.Leu3443Val) c.10027T>G (p.Leu3343Val) c.7291T>G (p.Leu2431Val) c.6184T>G (p.Leu2062Val) c.10210T>G (p.Leu3404Val) c.5962T>G (p.Leu1988Val) c.9190T>G (p.Leu3064Val) | |
8 | g.99853720T>A | CA371781597 | VPS13B | c.10406T>A (p.Leu3469Ter) n.10476T>A c.*6088T>A (n.*6088T>A) c.10331T>A (p.Leu3444Ter) c.10403T>A (p.Leu3468Ter) c.10328T>A (p.Leu3443Ter) c.10028T>A (p.Leu3343Ter) c.7292T>A (p.Leu2431Ter) c.6185T>A (p.Leu2062Ter) c.10211T>A (p.Leu3404Ter) c.5963T>A (p.Leu1988Ter) c.9191T>A (p.Leu3064Ter) | |
8 | g.99853720T>C | CA371781599 | VPS13B | c.10406T>C (p.Leu3469Ser) n.10476T>C c.*6088T>C (n.*6088T>C) c.10331T>C (p.Leu3444Ser) c.10403T>C (p.Leu3468Ser) c.10328T>C (p.Leu3443Ser) c.10028T>C (p.Leu3343Ser) c.7292T>C (p.Leu2431Ser) c.6185T>C (p.Leu2062Ser) c.10211T>C (p.Leu3404Ser) c.5963T>C (p.Leu1988Ser) c.9191T>C (p.Leu3064Ser) | |
8 | g.99853720T>G | CA371781601 | VPS13B | c.10406T>G (p.Leu3469Ter) n.10476T>G c.*6088T>G (n.*6088T>G) c.10331T>G (p.Leu3444Ter) c.10403T>G (p.Leu3468Ter) c.10328T>G (p.Leu3443Ter) c.10028T>G (p.Leu3343Ter) c.7292T>G (p.Leu2431Ter) c.6185T>G (p.Leu2062Ter) c.10211T>G (p.Leu3404Ter) c.5963T>G (p.Leu1988Ter) c.9191T>G (p.Leu3064Ter) | |
8 | g.99853721A>C | CA371781604 | VPS13B | c.10407A>C (p.Leu3469Phe) n.10477A>C c.*6089A>C (n.*6089A>C) c.10332A>C (p.Leu3444Phe) c.10404A>C (p.Leu3468Phe) c.10329A>C (p.Leu3443Phe) c.10029A>C (p.Leu3343Phe) c.7293A>C (p.Leu2431Phe) c.6186A>C (p.Leu2062Phe) c.10212A>C (p.Leu3404Phe) c.5964A>C (p.Leu1988Phe) c.9192A>C (p.Leu3064Phe) | |
8 | g.99853721A>G | CA462458212 | VPS13B | c.10407A>G (p.Leu3469=) n.10477A>G c.*6089A>G (n.*6089A>G) c.10332A>G (p.Leu3444=) c.10404A>G (p.Leu3468=) c.10329A>G (p.Leu3443=) c.10029A>G (p.Leu3343=) c.7293A>G (p.Leu2431=) c.6186A>G (p.Leu2062=) c.10212A>G (p.Leu3404=) c.5964A>G (p.Leu1988=) c.9192A>G (p.Leu3064=) | |
8 | g.99853721A>T | CA371781606 | VPS13B | c.10407A>T (p.Leu3469Phe) n.10477A>T c.*6089A>T (n.*6089A>T) c.10332A>T (p.Leu3444Phe) c.10404A>T (p.Leu3468Phe) c.10329A>T (p.Leu3443Phe) c.10029A>T (p.Leu3343Phe) c.7293A>T (p.Leu2431Phe) c.6186A>T (p.Leu2062Phe) c.10212A>T (p.Leu3404Phe) c.5964A>T (p.Leu1988Phe) c.9192A>T (p.Leu3064Phe) | |
8 | g.99853722G>A | CA371781614 | VPS13B | c.10408G>A (p.Val3470Ile) n.10478G>A c.*6090G>A (n.*6090G>A) c.10333G>A (p.Val3445Ile) c.10405G>A (p.Val3469Ile) c.10330G>A (p.Val3444Ile) c.10030G>A (p.Val3344Ile) c.7294G>A (p.Val2432Ile) c.6187G>A (p.Val2063Ile) c.10213G>A (p.Val3405Ile) c.5965G>A (p.Val1989Ile) c.9193G>A (p.Val3065Ile) | gnomAD v4 |
8 | g.99853722G>C | CA371781618 | VPS13B | c.10408G>C (p.Val3470Leu) n.10478G>C c.*6090G>C (n.*6090G>C) c.10333G>C (p.Val3445Leu) c.10405G>C (p.Val3469Leu) c.10330G>C (p.Val3444Leu) c.10030G>C (p.Val3344Leu) c.7294G>C (p.Val2432Leu) c.6187G>C (p.Val2063Leu) c.10213G>C (p.Val3405Leu) c.5965G>C (p.Val1989Leu) c.9193G>C (p.Val3065Leu) | |
8 | g.99853722G>T | CA371781616 | VPS13B | c.10408G>T (p.Val3470Phe) n.10478G>T c.*6090G>T (n.*6090G>T) c.10333G>T (p.Val3445Phe) c.10405G>T (p.Val3469Phe) c.10330G>T (p.Val3444Phe) c.10030G>T (p.Val3344Phe) c.7294G>T (p.Val2432Phe) c.6187G>T (p.Val2063Phe) c.10213G>T (p.Val3405Phe) c.5965G>T (p.Val1989Phe) c.9193G>T (p.Val3065Phe) | |
8 | g.99853723del | CA2825001601 | VPS13B | c.10409del (p.Val3470AlafsTer?) n.10479del c.*6091del (n.*6091del) c.10334del (p.Val3445AlafsTer?) c.10406del (p.Val3469AlafsTer?) c.10331del (p.Val3444AlafsTer?) c.10031del (p.Val3344AlafsTer?) c.7295del (p.Val2432AlafsTer?) c.6188del (p.Val2063AlafsTer?) c.10214del (p.Val3405AlafsTer?) c.5966del (p.Val1989AlafsTer?) c.9194del (p.Val3065AlafsTer?) | ClinVar |
8 | g.99853723T>A | CA371781620 | VPS13B | c.10409T>A (p.Val3470Asp) n.10479T>A c.*6091T>A (n.*6091T>A) c.10334T>A (p.Val3445Asp) c.10406T>A (p.Val3469Asp) c.10331T>A (p.Val3444Asp) c.10031T>A (p.Val3344Asp) c.7295T>A (p.Val2432Asp) c.6188T>A (p.Val2063Asp) c.10214T>A (p.Val3405Asp) c.5966T>A (p.Val1989Asp) c.9194T>A (p.Val3065Asp) | |
8 | g.99853723T>C | CA371781621 | VPS13B | c.10409T>C (p.Val3470Ala) n.10479T>C c.*6091T>C (n.*6091T>C) c.10334T>C (p.Val3445Ala) c.10406T>C (p.Val3469Ala) c.10331T>C (p.Val3444Ala) c.10031T>C (p.Val3344Ala) c.7295T>C (p.Val2432Ala) c.6188T>C (p.Val2063Ala) c.10214T>C (p.Val3405Ala) c.5966T>C (p.Val1989Ala) c.9194T>C (p.Val3065Ala) | |
8 | g.99853723T>G | CA371781622 | VPS13B | c.10409T>G (p.Val3470Gly) n.10479T>G c.*6091T>G (n.*6091T>G) c.10334T>G (p.Val3445Gly) c.10406T>G (p.Val3469Gly) c.10331T>G (p.Val3444Gly) c.10031T>G (p.Val3344Gly) c.7295T>G (p.Val2432Gly) c.6188T>G (p.Val2063Gly) c.10214T>G (p.Val3405Gly) c.5966T>G (p.Val1989Gly) c.9194T>G (p.Val3065Gly) | |
8 | g.99853724C>A | CA462458214 | VPS13B | c.10410C>A (p.Val3470=) n.10480C>A c.*6092C>A (n.*6092C>A) c.10335C>A (p.Val3445=) c.10407C>A (p.Val3469=) c.10332C>A (p.Val3444=) c.10032C>A (p.Val3344=) c.7296C>A (p.Val2432=) c.6189C>A (p.Val2063=) c.10215C>A (p.Val3405=) c.5967C>A (p.Val1989=) c.9195C>A (p.Val3065=) | |
8 | g.99853724C>G | CA462458215 | VPS13B | c.10410C>G (p.Val3470=) n.10480C>G c.*6092C>G (n.*6092C>G) c.10335C>G (p.Val3445=) c.10407C>G (p.Val3469=) c.10332C>G (p.Val3444=) c.10032C>G (p.Val3344=) c.7296C>G (p.Val2432=) c.6189C>G (p.Val2063=) c.10215C>G (p.Val3405=) c.5967C>G (p.Val1989=) c.9195C>G (p.Val3065=) | |
8 | g.99853724C>T | CA182314291 | VPS13B | c.10410C>T (p.Val3470=) n.10480C>T c.*6092C>T (n.*6092C>T) c.10335C>T (p.Val3445=) c.10407C>T (p.Val3469=) c.10332C>T (p.Val3444=) c.10032C>T (p.Val3344=) c.7296C>T (p.Val2432=) c.6189C>T (p.Val2063=) c.10215C>T (p.Val3405=) c.5967C>T (p.Val1989=) c.9195C>T (p.Val3065=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853725T>A | CA371781625 | VPS13B | c.10411T>A (p.Cys3471Ser) n.10481T>A c.*6093T>A (n.*6093T>A) c.10336T>A (p.Cys3446Ser) c.10408T>A (p.Cys3470Ser) c.10333T>A (p.Cys3445Ser) c.10033T>A (p.Cys3345Ser) c.7297T>A (p.Cys2433Ser) c.6190T>A (p.Cys2064Ser) c.10216T>A (p.Cys3406Ser) c.5968T>A (p.Cys1990Ser) c.9196T>A (p.Cys3066Ser) | |
8 | g.99853725T>C | CA371781626 | VPS13B | c.10411T>C (p.Cys3471Arg) n.10481T>C c.*6093T>C (n.*6093T>C) c.10336T>C (p.Cys3446Arg) c.10408T>C (p.Cys3470Arg) c.10333T>C (p.Cys3445Arg) c.10033T>C (p.Cys3345Arg) c.7297T>C (p.Cys2433Arg) c.6190T>C (p.Cys2064Arg) c.10216T>C (p.Cys3406Arg) c.5968T>C (p.Cys1990Arg) c.9196T>C (p.Cys3066Arg) | |
8 | g.99853725T>G | CA371781627 | VPS13B | c.10411T>G (p.Cys3471Gly) n.10481T>G c.*6093T>G (n.*6093T>G) c.10336T>G (p.Cys3446Gly) c.10408T>G (p.Cys3470Gly) c.10333T>G (p.Cys3445Gly) c.10033T>G (p.Cys3345Gly) c.7297T>G (p.Cys2433Gly) c.6190T>G (p.Cys2064Gly) c.10216T>G (p.Cys3406Gly) c.5968T>G (p.Cys1990Gly) c.9196T>G (p.Cys3066Gly) | |
8 | g.99853726G>A | CA371781629 | VPS13B | c.10412G>A (p.Cys3471Tyr) n.10482G>A c.*6094G>A (n.*6094G>A) c.10337G>A (p.Cys3446Tyr) c.10409G>A (p.Cys3470Tyr) c.10334G>A (p.Cys3445Tyr) c.10034G>A (p.Cys3345Tyr) c.7298G>A (p.Cys2433Tyr) c.6191G>A (p.Cys2064Tyr) c.10217G>A (p.Cys3406Tyr) c.5969G>A (p.Cys1990Tyr) c.9197G>A (p.Cys3066Tyr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853726G>C | CA371781631 | VPS13B | c.10412G>C (p.Cys3471Ser) n.10482G>C c.*6094G>C (n.*6094G>C) c.10337G>C (p.Cys3446Ser) c.10409G>C (p.Cys3470Ser) c.10334G>C (p.Cys3445Ser) c.10034G>C (p.Cys3345Ser) c.7298G>C (p.Cys2433Ser) c.6191G>C (p.Cys2064Ser) c.10217G>C (p.Cys3406Ser) c.5969G>C (p.Cys1990Ser) c.9197G>C (p.Cys3066Ser) | |
8 | g.99853726G>T | CA371781633 | VPS13B | c.10412G>T (p.Cys3471Phe) n.10482G>T c.*6094G>T (n.*6094G>T) c.10337G>T (p.Cys3446Phe) c.10409G>T (p.Cys3470Phe) c.10334G>T (p.Cys3445Phe) c.10034G>T (p.Cys3345Phe) c.7298G>T (p.Cys2433Phe) c.6191G>T (p.Cys2064Phe) c.10217G>T (p.Cys3406Phe) c.5969G>T (p.Cys1990Phe) c.9197G>T (p.Cys3066Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99853727C>A | CA371781636 | VPS13B | c.10413C>A (p.Cys3471Ter) n.10483C>A c.*6095C>A (n.*6095C>A) c.10338C>A (p.Cys3446Ter) c.10410C>A (p.Cys3470Ter) c.10335C>A (p.Cys3445Ter) c.10035C>A (p.Cys3345Ter) c.7299C>A (p.Cys2433Ter) c.6192C>A (p.Cys2064Ter) c.10218C>A (p.Cys3406Ter) c.5970C>A (p.Cys1990Ter) c.9198C>A (p.Cys3066Ter) | |
8 | g.99853727C>G | CA371781635 | VPS13B | c.10413C>G (p.Cys3471Trp) n.10483C>G c.*6095C>G (n.*6095C>G) c.10338C>G (p.Cys3446Trp) c.10410C>G (p.Cys3470Trp) c.10335C>G (p.Cys3445Trp) c.10035C>G (p.Cys3345Trp) c.7299C>G (p.Cys2433Trp) c.6192C>G (p.Cys2064Trp) c.10218C>G (p.Cys3406Trp) c.5970C>G (p.Cys1990Trp) c.9198C>G (p.Cys3066Trp) | |
8 | g.99853727C>T | CA462458217 | VPS13B | c.10413C>T (p.Cys3471=) n.10483C>T c.*6095C>T (n.*6095C>T) c.10338C>T (p.Cys3446=) c.10410C>T (p.Cys3470=) c.10335C>T (p.Cys3445=) c.10035C>T (p.Cys3345=) c.7299C>T (p.Cys2433=) c.6192C>T (p.Cys2064=) c.10218C>T (p.Cys3406=) c.5970C>T (p.Cys1990=) c.9198C>T (p.Cys3066=) | |
8 | g.99853728C>A | CA371781638 | VPS13B | c.10414C>A (p.Gln3472Lys) n.10484C>A c.*6096C>A (n.*6096C>A) c.10339C>A (p.Gln3447Lys) c.10411C>A (p.Gln3471Lys) c.10336C>A (p.Gln3446Lys) c.10036C>A (p.Gln3346Lys) c.7300C>A (p.Gln2434Lys) c.6193C>A (p.Gln2065Lys) c.10219C>A (p.Gln3407Lys) c.5971C>A (p.Gln1991Lys) c.9199C>A (p.Gln3067Lys) | |
8 | g.99853728C>G | CA371781641 | VPS13B | c.10414C>G (p.Gln3472Glu) n.10484C>G c.*6096C>G (n.*6096C>G) c.10339C>G (p.Gln3447Glu) c.10411C>G (p.Gln3471Glu) c.10336C>G (p.Gln3446Glu) c.10036C>G (p.Gln3346Glu) c.7300C>G (p.Gln2434Glu) c.6193C>G (p.Gln2065Glu) c.10219C>G (p.Gln3407Glu) c.5971C>G (p.Gln1991Glu) c.9199C>G (p.Gln3067Glu) | gnomAD v4 |
8 | g.99853728C>T | CA371781640 | VPS13B | c.10414C>T (p.Gln3472Ter) n.10484C>T c.*6096C>T (n.*6096C>T) c.10339C>T (p.Gln3447Ter) c.10411C>T (p.Gln3471Ter) c.10336C>T (p.Gln3446Ter) c.10036C>T (p.Gln3346Ter) c.7300C>T (p.Gln2434Ter) c.6193C>T (p.Gln2065Ter) c.10219C>T (p.Gln3407Ter) c.5971C>T (p.Gln1991Ter) c.9199C>T (p.Gln3067Ter) | |
8 | g.99853729A>C | CA371781642 | VPS13B | c.10415A>C (p.Gln3472Pro) n.10485A>C c.*6097A>C (n.*6097A>C) c.10340A>C (p.Gln3447Pro) c.10412A>C (p.Gln3471Pro) c.10337A>C (p.Gln3446Pro) c.10037A>C (p.Gln3346Pro) c.7301A>C (p.Gln2434Pro) c.6194A>C (p.Gln2065Pro) c.10220A>C (p.Gln3407Pro) c.5972A>C (p.Gln1991Pro) c.9200A>C (p.Gln3067Pro) | |
8 | g.99853729A>G | CA371781643 | VPS13B | c.10415A>G (p.Gln3472Arg) n.10485A>G c.*6097A>G (n.*6097A>G) c.10340A>G (p.Gln3447Arg) c.10412A>G (p.Gln3471Arg) c.10337A>G (p.Gln3446Arg) c.10037A>G (p.Gln3346Arg) c.7301A>G (p.Gln2434Arg) c.6194A>G (p.Gln2065Arg) c.10220A>G (p.Gln3407Arg) c.5972A>G (p.Gln1991Arg) c.9200A>G (p.Gln3067Arg) | gnomAD v4 |
8 | g.99853729A>T | CA371781645 | VPS13B | c.10415A>T (p.Gln3472Leu) n.10485A>T c.*6097A>T (n.*6097A>T) c.10340A>T (p.Gln3447Leu) c.10412A>T (p.Gln3471Leu) c.10337A>T (p.Gln3446Leu) c.10037A>T (p.Gln3346Leu) c.7301A>T (p.Gln2434Leu) c.6194A>T (p.Gln2065Leu) c.10220A>T (p.Gln3407Leu) c.5972A>T (p.Gln1991Leu) c.9200A>T (p.Gln3067Leu) | gnomAD v4 |
8 | g.99853730G>A | CA462458218 | VPS13B | c.10416G>A (p.Gln3472=) n.10486G>A c.*6098G>A (n.*6098G>A) c.10341G>A (p.Gln3447=) c.10413G>A (p.Gln3471=) c.10338G>A (p.Gln3446=) c.10038G>A (p.Gln3346=) c.7302G>A (p.Gln2434=) c.6195G>A (p.Gln2065=) c.10221G>A (p.Gln3407=) c.5973G>A (p.Gln1991=) c.9201G>A (p.Gln3067=) | |
8 | g.99853730G>C | CA371781647 | VPS13B | c.10416G>C (p.Gln3472His) n.10486G>C c.*6098G>C (n.*6098G>C) c.10341G>C (p.Gln3447His) c.10413G>C (p.Gln3471His) c.10338G>C (p.Gln3446His) c.10038G>C (p.Gln3346His) c.7302G>C (p.Gln2434His) c.6195G>C (p.Gln2065His) c.10221G>C (p.Gln3407His) c.5973G>C (p.Gln1991His) c.9201G>C (p.Gln3067His) | |
8 | g.99853730G>T | CA371781649 | VPS13B | c.10416G>T (p.Gln3472His) n.10486G>T c.*6098G>T (n.*6098G>T) c.10341G>T (p.Gln3447His) c.10413G>T (p.Gln3471His) c.10338G>T (p.Gln3446His) c.10038G>T (p.Gln3346His) c.7302G>T (p.Gln2434His) c.6195G>T (p.Gln2065His) c.10221G>T (p.Gln3407His) c.5973G>T (p.Gln1991His) c.9201G>T (p.Gln3067His) | |
8 | g.99853731G>A | CA371781652 | VPS13B | c.10417G>A (p.Gly3473Arg) n.10487G>A c.*6099G>A (n.*6099G>A) c.10342G>A (p.Gly3448Arg) c.10414G>A (p.Gly3472Arg) c.10339G>A (p.Gly3447Arg) c.10039G>A (p.Gly3347Arg) c.7303G>A (p.Gly2435Arg) c.6196G>A (p.Gly2066Arg) c.10222G>A (p.Gly3408Arg) c.5974G>A (p.Gly1992Arg) c.9202G>A (p.Gly3068Arg) | |
8 | g.99853731G>C | CA371781654 | VPS13B | c.10417G>C (p.Gly3473Arg) n.10487G>C c.*6099G>C (n.*6099G>C) c.10342G>C (p.Gly3448Arg) c.10414G>C (p.Gly3472Arg) c.10339G>C (p.Gly3447Arg) c.10039G>C (p.Gly3347Arg) c.7303G>C (p.Gly2435Arg) c.6196G>C (p.Gly2066Arg) c.10222G>C (p.Gly3408Arg) c.5974G>C (p.Gly1992Arg) c.9202G>C (p.Gly3068Arg) | |
8 | g.99853731G>T | CA371781656 | VPS13B | c.10417G>T (p.Gly3473Ter) n.10487G>T c.*6099G>T (n.*6099G>T) c.10342G>T (p.Gly3448Ter) c.10414G>T (p.Gly3472Ter) c.10339G>T (p.Gly3447Ter) c.10039G>T (p.Gly3347Ter) c.7303G>T (p.Gly2435Ter) c.6196G>T (p.Gly2066Ter) c.10222G>T (p.Gly3408Ter) c.5974G>T (p.Gly1992Ter) c.9202G>T (p.Gly3068Ter) | |
8 | g.99853732G>A | CA371781659 | VPS13B | c.10418G>A (p.Gly3473Glu) n.10488G>A c.*6100G>A (n.*6100G>A) c.10343G>A (p.Gly3448Glu) c.10415G>A (p.Gly3472Glu) c.10340G>A (p.Gly3447Glu) c.10040G>A (p.Gly3347Glu) c.7304G>A (p.Gly2435Glu) c.6197G>A (p.Gly2066Glu) c.10223G>A (p.Gly3408Glu) c.5975G>A (p.Gly1992Glu) c.9203G>A (p.Gly3068Glu) | gnomAD v4 |
8 | g.99853732G>C | CA371781662 | VPS13B | c.10418G>C (p.Gly3473Ala) n.10488G>C c.*6100G>C (n.*6100G>C) c.10343G>C (p.Gly3448Ala) c.10415G>C (p.Gly3472Ala) c.10340G>C (p.Gly3447Ala) c.10040G>C (p.Gly3347Ala) c.7304G>C (p.Gly2435Ala) c.6197G>C (p.Gly2066Ala) c.10223G>C (p.Gly3408Ala) c.5975G>C (p.Gly1992Ala) c.9203G>C (p.Gly3068Ala) | |
8 | g.99853732G>T | CA371781663 | VPS13B | c.10418G>T (p.Gly3473Val) n.10488G>T c.*6100G>T (n.*6100G>T) c.10343G>T (p.Gly3448Val) c.10415G>T (p.Gly3472Val) c.10340G>T (p.Gly3447Val) c.10040G>T (p.Gly3347Val) c.7304G>T (p.Gly2435Val) c.6197G>T (p.Gly2066Val) c.10223G>T (p.Gly3408Val) c.5975G>T (p.Gly1992Val) c.9203G>T (p.Gly3068Val) | |
8 | g.99853733A>C | CA462458221 | VPS13B | c.10419A>C (p.Gly3473=) n.10489A>C c.*6101A>C (n.*6101A>C) c.10344A>C (p.Gly3448=) c.10416A>C (p.Gly3472=) c.10341A>C (p.Gly3447=) c.10041A>C (p.Gly3347=) c.7305A>C (p.Gly2435=) c.6198A>C (p.Gly2066=) c.10224A>C (p.Gly3408=) c.5976A>C (p.Gly1992=) c.9204A>C (p.Gly3068=) | |
8 | g.99853733A>G | CA462458222 | VPS13B | c.10419A>G (p.Gly3473=) n.10489A>G c.*6101A>G (n.*6101A>G) c.10344A>G (p.Gly3448=) c.10416A>G (p.Gly3472=) c.10341A>G (p.Gly3447=) c.10041A>G (p.Gly3347=) c.7305A>G (p.Gly2435=) c.6198A>G (p.Gly2066=) c.10224A>G (p.Gly3408=) c.5976A>G (p.Gly1992=) c.9204A>G (p.Gly3068=) | ClinVar |
8 | g.99853733A>T | CA462458223 | VPS13B | c.10419A>T (p.Gly3473=) n.10489A>T c.*6101A>T (n.*6101A>T) c.10344A>T (p.Gly3448=) c.10416A>T (p.Gly3472=) c.10341A>T (p.Gly3447=) c.10041A>T (p.Gly3347=) c.7305A>T (p.Gly2435=) c.6198A>T (p.Gly2066=) c.10224A>T (p.Gly3408=) c.5976A>T (p.Gly1992=) c.9204A>T (p.Gly3068=) | |
8 | g.99853734G>A | CA371781668 | VPS13B | c.10420G>A (p.Glu3474Lys) n.10490G>A c.*6102G>A (n.*6102G>A) c.10345G>A (p.Glu3449Lys) c.10417G>A (p.Glu3473Lys) c.10342G>A (p.Glu3448Lys) c.10042G>A (p.Glu3348Lys) c.7306G>A (p.Glu2436Lys) c.6199G>A (p.Glu2067Lys) c.10225G>A (p.Glu3409Lys) c.5977G>A (p.Glu1993Lys) c.9205G>A (p.Glu3069Lys) | |
8 | g.99853734G>C | CA371781667 | VPS13B | c.10420G>C (p.Glu3474Gln) n.10490G>C c.*6102G>C (n.*6102G>C) c.10345G>C (p.Glu3449Gln) c.10417G>C (p.Glu3473Gln) c.10342G>C (p.Glu3448Gln) c.10042G>C (p.Glu3348Gln) c.7306G>C (p.Glu2436Gln) c.6199G>C (p.Glu2067Gln) c.10225G>C (p.Glu3409Gln) c.5977G>C (p.Glu1993Gln) c.9205G>C (p.Glu3069Gln) | |
8 | g.99853734G>T | CA371781665 | VPS13B | c.10420G>T (p.Glu3474Ter) n.10490G>T c.*6102G>T (n.*6102G>T) c.10345G>T (p.Glu3449Ter) c.10417G>T (p.Glu3473Ter) c.10342G>T (p.Glu3448Ter) c.10042G>T (p.Glu3348Ter) c.7306G>T (p.Glu2436Ter) c.6199G>T (p.Glu2067Ter) c.10225G>T (p.Glu3409Ter) c.5977G>T (p.Glu1993Ter) c.9205G>T (p.Glu3069Ter) | |
8 | g.99853735A>C | CA371781670 | VPS13B | c.10421A>C (p.Glu3474Ala) n.10491A>C c.*6103A>C (n.*6103A>C) c.10346A>C (p.Glu3449Ala) c.10418A>C (p.Glu3473Ala) c.10343A>C (p.Glu3448Ala) c.10043A>C (p.Glu3348Ala) c.7307A>C (p.Glu2436Ala) c.6200A>C (p.Glu2067Ala) c.10226A>C (p.Glu3409Ala) c.5978A>C (p.Glu1993Ala) c.9206A>C (p.Glu3069Ala) | |
8 | g.99853735A>G | CA371781673 | VPS13B | c.10421A>G (p.Glu3474Gly) n.10491A>G c.*6103A>G (n.*6103A>G) c.10346A>G (p.Glu3449Gly) c.10418A>G (p.Glu3473Gly) c.10343A>G (p.Glu3448Gly) c.10043A>G (p.Glu3348Gly) c.7307A>G (p.Glu2436Gly) c.6200A>G (p.Glu2067Gly) c.10226A>G (p.Glu3409Gly) c.5978A>G (p.Glu1993Gly) c.9206A>G (p.Glu3069Gly) | |
8 | g.99853735A>T | CA371781676 | VPS13B | c.10421A>T (p.Glu3474Val) n.10491A>T c.*6103A>T (n.*6103A>T) c.10346A>T (p.Glu3449Val) c.10418A>T (p.Glu3473Val) c.10343A>T (p.Glu3448Val) c.10043A>T (p.Glu3348Val) c.7307A>T (p.Glu2436Val) c.6200A>T (p.Glu2067Val) c.10226A>T (p.Glu3409Val) c.5978A>T (p.Glu1993Val) c.9206A>T (p.Glu3069Val) | |
8 | g.99853736A>C | CA371781678 | VPS13B | c.10422A>C (p.Glu3474Asp) n.10492A>C c.*6104A>C (n.*6104A>C) c.10347A>C (p.Glu3449Asp) c.10419A>C (p.Glu3473Asp) c.10344A>C (p.Glu3448Asp) c.10044A>C (p.Glu3348Asp) c.7308A>C (p.Glu2436Asp) c.6201A>C (p.Glu2067Asp) c.10227A>C (p.Glu3409Asp) c.5979A>C (p.Glu1993Asp) c.9207A>C (p.Glu3069Asp) | |
8 | g.99853736A>G | CA462458225 | VPS13B | c.10422A>G (p.Glu3474=) n.10492A>G c.*6104A>G (n.*6104A>G) c.10347A>G (p.Glu3449=) c.10419A>G (p.Glu3473=) c.10344A>G (p.Glu3448=) c.10044A>G (p.Glu3348=) c.7308A>G (p.Glu2436=) c.6201A>G (p.Glu2067=) c.10227A>G (p.Glu3409=) c.5979A>G (p.Glu1993=) c.9207A>G (p.Glu3069=) | gnomAD v4 |
8 | g.99853736A>T | CA371781679 | VPS13B | c.10422A>T (p.Glu3474Asp) n.10492A>T c.*6104A>T (n.*6104A>T) c.10347A>T (p.Glu3449Asp) c.10419A>T (p.Glu3473Asp) c.10344A>T (p.Glu3448Asp) c.10044A>T (p.Glu3348Asp) c.7308A>T (p.Glu2436Asp) c.6201A>T (p.Glu2067Asp) c.10227A>T (p.Glu3409Asp) c.5979A>T (p.Glu1993Asp) c.9207A>T (p.Glu3069Asp) | |
8 | g.99853737A>C | CA371781683 | VPS13B | c.10423A>C (p.Lys3475Gln) n.10493A>C c.*6105A>C (n.*6105A>C) c.10348A>C (p.Lys3450Gln) c.10420A>C (p.Lys3474Gln) c.10345A>C (p.Lys3449Gln) c.10045A>C (p.Lys3349Gln) c.7309A>C (p.Lys2437Gln) c.6202A>C (p.Lys2068Gln) c.10228A>C (p.Lys3410Gln) c.5980A>C (p.Lys1994Gln) c.9208A>C (p.Lys3070Gln) | |
8 | g.99853737A>G | CA371781684 | VPS13B | c.10423A>G (p.Lys3475Glu) n.10493A>G c.*6105A>G (n.*6105A>G) c.10348A>G (p.Lys3450Glu) c.10420A>G (p.Lys3474Glu) c.10345A>G (p.Lys3449Glu) c.10045A>G (p.Lys3349Glu) c.7309A>G (p.Lys2437Glu) c.6202A>G (p.Lys2068Glu) c.10228A>G (p.Lys3410Glu) c.5980A>G (p.Lys1994Glu) c.9208A>G (p.Lys3070Glu) | |
8 | g.99853737A>T | CA371781685 | VPS13B | c.10423A>T (p.Lys3475Ter) n.10493A>T c.*6105A>T (n.*6105A>T) c.10348A>T (p.Lys3450Ter) c.10420A>T (p.Lys3474Ter) c.10345A>T (p.Lys3449Ter) c.10045A>T (p.Lys3349Ter) c.7309A>T (p.Lys2437Ter) c.6202A>T (p.Lys2068Ter) c.10228A>T (p.Lys3410Ter) c.5980A>T (p.Lys1994Ter) c.9208A>T (p.Lys3070Ter) | |
8 | g.99853738A>C | CA371781686 | VPS13B | c.10424A>C (p.Lys3475Thr) n.10494A>C c.*6106A>C (n.*6106A>C) c.10349A>C (p.Lys3450Thr) c.10421A>C (p.Lys3474Thr) c.10346A>C (p.Lys3449Thr) c.10046A>C (p.Lys3349Thr) c.7310A>C (p.Lys2437Thr) c.6203A>C (p.Lys2068Thr) c.10229A>C (p.Lys3410Thr) c.5981A>C (p.Lys1994Thr) c.9209A>C (p.Lys3070Thr) | |
8 | g.99853738A>G | CA371781688 | VPS13B | c.10424A>G (p.Lys3475Arg) n.10494A>G c.*6106A>G (n.*6106A>G) c.10349A>G (p.Lys3450Arg) c.10421A>G (p.Lys3474Arg) c.10346A>G (p.Lys3449Arg) c.10046A>G (p.Lys3349Arg) c.7310A>G (p.Lys2437Arg) c.6203A>G (p.Lys2068Arg) c.10229A>G (p.Lys3410Arg) c.5981A>G (p.Lys1994Arg) c.9209A>G (p.Lys3070Arg) | |
8 | g.99853738A>T | CA371781690 | VPS13B | c.10424A>T (p.Lys3475Ile) n.10494A>T c.*6106A>T (n.*6106A>T) c.10349A>T (p.Lys3450Ile) c.10421A>T (p.Lys3474Ile) c.10346A>T (p.Lys3449Ile) c.10046A>T (p.Lys3349Ile) c.7310A>T (p.Lys2437Ile) c.6203A>T (p.Lys2068Ile) c.10229A>T (p.Lys3410Ile) c.5981A>T (p.Lys1994Ile) c.9209A>T (p.Lys3070Ile) | |
8 | g.99853739_99853742del | CA913128139 | VPS13B | c.10425_10428del (p.Ala3476AsnfsTer?) n.10495_10498del c.*6107_*6110del (n.*6107_*6110del) c.10350_10353del (p.Ala3451AsnfsTer?) c.10422_10425del (p.Ala3475AsnfsTer?) c.10347_10350del (p.Ala3450AsnfsTer?) c.10047_10050del (p.Ala3350AsnfsTer?) c.7311_7314del (p.Ala2438AsnfsTer?) c.6204_6207del (p.Ala2069AsnfsTer?) c.10230_10233del (p.Ala3411AsnfsTer?) c.5982_5985del (p.Ala1995AsnfsTer?) c.9210_9213del (p.Ala3071AsnfsTer?) | |
8 | g.99853739A>C | CA371781692 | VPS13B | c.10425A>C (p.Lys3475Asn) n.10495A>C c.*6107A>C (n.*6107A>C) c.10350A>C (p.Lys3450Asn) c.10422A>C (p.Lys3474Asn) c.10347A>C (p.Lys3449Asn) c.10047A>C (p.Lys3349Asn) c.7311A>C (p.Lys2437Asn) c.6204A>C (p.Lys2068Asn) c.10230A>C (p.Lys3410Asn) c.5982A>C (p.Lys1994Asn) c.9210A>C (p.Lys3070Asn) | |
8 | g.99853739A>G | CA462458229 | VPS13B | c.10425A>G (p.Lys3475=) n.10495A>G c.*6107A>G (n.*6107A>G) c.10350A>G (p.Lys3450=) c.10422A>G (p.Lys3474=) c.10347A>G (p.Lys3449=) c.10047A>G (p.Lys3349=) c.7311A>G (p.Lys2437=) c.6204A>G (p.Lys2068=) c.10230A>G (p.Lys3410=) c.5982A>G (p.Lys1994=) c.9210A>G (p.Lys3070=) | |
8 | g.99853739A>T | CA371781693 | VPS13B | c.10425A>T (p.Lys3475Asn) n.10495A>T c.*6107A>T (n.*6107A>T) c.10350A>T (p.Lys3450Asn) c.10422A>T (p.Lys3474Asn) c.10347A>T (p.Lys3449Asn) c.10047A>T (p.Lys3349Asn) c.7311A>T (p.Lys2437Asn) c.6204A>T (p.Lys2068Asn) c.10230A>T (p.Lys3410Asn) c.5982A>T (p.Lys1994Asn) c.9210A>T (p.Lys3070Asn) | |
8 | g.99853741_99853743del | CA658821911 | VPS13B | c.10427_10429del (p.Ala3476del) n.10497_10499del c.*6109_*6111del (n.*6109_*6111del) c.10352_10354del (p.Ala3451del) c.10424_10426del (p.Ala3475del) c.10349_10351del (p.Ala3450del) c.10049_10051del (p.Ala3350del) c.7313_7315del (p.Ala2438del) c.6206_6208del (p.Ala2069del) c.10232_10234del (p.Ala3411del) c.5984_5986del (p.Ala1995del) c.9212_9214del (p.Ala3071del) | ClinVar dbSNP |
8 | g.99853740G>A | CA371781701 | VPS13B | c.10426G>A (p.Ala3476Thr) n.10496G>A c.*6108G>A (n.*6108G>A) c.10351G>A (p.Ala3451Thr) c.10423G>A (p.Ala3475Thr) c.10348G>A (p.Ala3450Thr) c.10048G>A (p.Ala3350Thr) c.7312G>A (p.Ala2438Thr) c.6205G>A (p.Ala2069Thr) c.10231G>A (p.Ala3411Thr) c.5983G>A (p.Ala1995Thr) c.9211G>A (p.Ala3071Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99853740G>C | CA371781703 | VPS13B | c.10426G>C (p.Ala3476Pro) n.10496G>C c.*6108G>C (n.*6108G>C) c.10351G>C (p.Ala3451Pro) c.10423G>C (p.Ala3475Pro) c.10348G>C (p.Ala3450Pro) c.10048G>C (p.Ala3350Pro) c.7312G>C (p.Ala2438Pro) c.6205G>C (p.Ala2069Pro) c.10231G>C (p.Ala3411Pro) c.5983G>C (p.Ala1995Pro) c.9211G>C (p.Ala3071Pro) | |
8 | g.99853740G>T | CA371781694 | VPS13B | c.10426G>T (p.Ala3476Ser) n.10496G>T c.*6108G>T (n.*6108G>T) c.10351G>T (p.Ala3451Ser) c.10423G>T (p.Ala3475Ser) c.10348G>T (p.Ala3450Ser) c.10048G>T (p.Ala3350Ser) c.7312G>T (p.Ala2438Ser) c.6205G>T (p.Ala2069Ser) c.10231G>T (p.Ala3411Ser) c.5983G>T (p.Ala1995Ser) c.9211G>T (p.Ala3071Ser) | |
8 | g.99853741C>A | CA371781712 | VPS13B | c.10427C>A (p.Ala3476Glu) n.10497C>A c.*6109C>A (n.*6109C>A) c.10352C>A (p.Ala3451Glu) c.10424C>A (p.Ala3475Glu) c.10349C>A (p.Ala3450Glu) c.10049C>A (p.Ala3350Glu) c.7313C>A (p.Ala2438Glu) c.6206C>A (p.Ala2069Glu) c.10232C>A (p.Ala3411Glu) c.5984C>A (p.Ala1995Glu) c.9212C>A (p.Ala3071Glu) | |
8 | g.99853741C>G | CA371781707 | VPS13B | c.10427C>G (p.Ala3476Gly) n.10497C>G c.*6109C>G (n.*6109C>G) c.10352C>G (p.Ala3451Gly) c.10424C>G (p.Ala3475Gly) c.10349C>G (p.Ala3450Gly) c.10049C>G (p.Ala3350Gly) c.7313C>G (p.Ala2438Gly) c.6206C>G (p.Ala2069Gly) c.10232C>G (p.Ala3411Gly) c.5984C>G (p.Ala1995Gly) c.9212C>G (p.Ala3071Gly) | |
8 | g.99853741C>T | CA371781709 | VPS13B | c.10427C>T (p.Ala3476Val) n.10497C>T c.*6109C>T (n.*6109C>T) c.10352C>T (p.Ala3451Val) c.10424C>T (p.Ala3475Val) c.10349C>T (p.Ala3450Val) c.10049C>T (p.Ala3350Val) c.7313C>T (p.Ala2438Val) c.6206C>T (p.Ala2069Val) c.10232C>T (p.Ala3411Val) c.5984C>T (p.Ala1995Val) c.9212C>T (p.Ala3071Val) | |
8 | g.99853742A>C | CA462458231 | VPS13B | c.10428A>C (p.Ala3476=) n.10498A>C c.*6110A>C (n.*6110A>C) c.10353A>C (p.Ala3451=) c.10425A>C (p.Ala3475=) c.10350A>C (p.Ala3450=) c.10050A>C (p.Ala3350=) c.7314A>C (p.Ala2438=) c.6207A>C (p.Ala2069=) c.10233A>C (p.Ala3411=) c.5985A>C (p.Ala1995=) c.9213A>C (p.Ala3071=) | |
8 | g.99853742A>G | CA462458232 | VPS13B | c.10428A>G (p.Ala3476=) n.10498A>G c.*6110A>G (n.*6110A>G) c.10353A>G (p.Ala3451=) c.10425A>G (p.Ala3475=) c.10350A>G (p.Ala3450=) c.10050A>G (p.Ala3350=) c.7314A>G (p.Ala2438=) c.6207A>G (p.Ala2069=) c.10233A>G (p.Ala3411=) c.5985A>G (p.Ala1995=) c.9213A>G (p.Ala3071=) | |
8 | g.99853742A>T | CA462458233 | VPS13B | c.10428A>T (p.Ala3476=) n.10498A>T c.*6110A>T (n.*6110A>T) c.10353A>T (p.Ala3451=) c.10425A>T (p.Ala3475=) c.10350A>T (p.Ala3450=) c.10050A>T (p.Ala3350=) c.7314A>T (p.Ala2438=) c.6207A>T (p.Ala2069=) c.10233A>T (p.Ala3411=) c.5985A>T (p.Ala1995=) c.9213A>T (p.Ala3071=) | |
8 | g.99853743G>A | CA371781717 | VPS13B | c.10429G>A (p.Glu3477Lys) n.10499G>A c.*6111G>A (n.*6111G>A) c.10354G>A (p.Glu3452Lys) c.10426G>A (p.Glu3476Lys) c.10351G>A (p.Glu3451Lys) c.10051G>A (p.Glu3351Lys) c.7315G>A (p.Glu2439Lys) c.6208G>A (p.Glu2070Lys) c.10234G>A (p.Glu3412Lys) c.5986G>A (p.Glu1996Lys) c.9214G>A (p.Glu3072Lys) | |
8 | g.99853743G>C | CA371781718 | VPS13B | c.10429G>C (p.Glu3477Gln) n.10499G>C c.*6111G>C (n.*6111G>C) c.10354G>C (p.Glu3452Gln) c.10426G>C (p.Glu3476Gln) c.10351G>C (p.Glu3451Gln) c.10051G>C (p.Glu3351Gln) c.7315G>C (p.Glu2439Gln) c.6208G>C (p.Glu2070Gln) c.10234G>C (p.Glu3412Gln) c.5986G>C (p.Glu1996Gln) c.9214G>C (p.Glu3072Gln) | |
8 | g.99853743G>T | CA371781719 | VPS13B | c.10429G>T (p.Glu3477Ter) n.10499G>T c.*6111G>T (n.*6111G>T) c.10354G>T (p.Glu3452Ter) c.10426G>T (p.Glu3476Ter) c.10351G>T (p.Glu3451Ter) c.10051G>T (p.Glu3351Ter) c.7315G>T (p.Glu2439Ter) c.6208G>T (p.Glu2070Ter) c.10234G>T (p.Glu3412Ter) c.5986G>T (p.Glu1996Ter) c.9214G>T (p.Glu3072Ter) | |
8 | g.99853743_99853748dup | CA2688072207 | VPS13B | c.10429_10434dup (p.Pro3478_Ile3479insGluPro) n.10499_10504dup c.*6111_*6116dup (n.*6111_*6116dup) c.10354_10359dup (p.Pro3453_Ile3454insGluPro) c.10426_10431dup (p.Pro3477_Ile3478insGluPro) c.10351_10356dup (p.Pro3452_Ile3453insGluPro) c.10051_10056dup (p.Pro3352_Ile3353insGluPro) c.7315_7320dup (p.Pro2440_Ile2441insGluPro) c.6208_6213dup (p.Pro2071_Ile2072insGluPro) c.10234_10239dup (p.Pro3413_Ile3414insGluPro) c.5986_5991dup (p.Pro1997_Ile1998insGluPro) c.9214_9219dup (p.Pro3073_Ile3074insGluPro) | gnomAD v4 |
8 | g.99853744A>C | CA371781720 | VPS13B | c.10430A>C (p.Glu3477Ala) n.10500A>C c.*6112A>C (n.*6112A>C) c.10355A>C (p.Glu3452Ala) c.10427A>C (p.Glu3476Ala) c.10352A>C (p.Glu3451Ala) c.10052A>C (p.Glu3351Ala) c.7316A>C (p.Glu2439Ala) c.6209A>C (p.Glu2070Ala) c.10235A>C (p.Glu3412Ala) c.5987A>C (p.Glu1996Ala) c.9215A>C (p.Glu3072Ala) | |
8 | g.99853744A>G | CA371781723 | VPS13B | c.10430A>G (p.Glu3477Gly) n.10500A>G c.*6112A>G (n.*6112A>G) c.10355A>G (p.Glu3452Gly) c.10427A>G (p.Glu3476Gly) c.10352A>G (p.Glu3451Gly) c.10052A>G (p.Glu3351Gly) c.7316A>G (p.Glu2439Gly) c.6209A>G (p.Glu2070Gly) c.10235A>G (p.Glu3412Gly) c.5987A>G (p.Glu1996Gly) c.9215A>G (p.Glu3072Gly) | |
8 | g.99853744A>T | CA4824934 | VPS13B | c.10430A>T (p.Glu3477Val) n.10500A>T c.*6112A>T (n.*6112A>T) c.10355A>T (p.Glu3452Val) c.10427A>T (p.Glu3476Val) c.10352A>T (p.Glu3451Val) c.10052A>T (p.Glu3351Val) c.7316A>T (p.Glu2439Val) c.6209A>T (p.Glu2070Val) c.10235A>T (p.Glu3412Val) c.5987A>T (p.Glu1996Val) c.9215A>T (p.Glu3072Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853745A>C | CA371781731 | VPS13B | c.10431A>C (p.Glu3477Asp) n.10501A>C c.*6113A>C (n.*6113A>C) c.10356A>C (p.Glu3452Asp) c.10428A>C (p.Glu3476Asp) c.10353A>C (p.Glu3451Asp) c.10053A>C (p.Glu3351Asp) c.7317A>C (p.Glu2439Asp) c.6210A>C (p.Glu2070Asp) c.10236A>C (p.Glu3412Asp) c.5988A>C (p.Glu1996Asp) c.9216A>C (p.Glu3072Asp) | |
8 | g.99853745A>G | CA462458236 | VPS13B | c.10431A>G (p.Glu3477=) n.10501A>G c.*6113A>G (n.*6113A>G) c.10356A>G (p.Glu3452=) c.10428A>G (p.Glu3476=) c.10353A>G (p.Glu3451=) c.10053A>G (p.Glu3351=) c.7317A>G (p.Glu2439=) c.6210A>G (p.Glu2070=) c.10236A>G (p.Glu3412=) c.5988A>G (p.Glu1996=) c.9216A>G (p.Glu3072=) | ClinVar dbSNP |
8 | g.99853745A>T | CA371781733 | VPS13B | c.10431A>T (p.Glu3477Asp) n.10501A>T c.*6113A>T (n.*6113A>T) c.10356A>T (p.Glu3452Asp) c.10428A>T (p.Glu3476Asp) c.10353A>T (p.Glu3451Asp) c.10053A>T (p.Glu3351Asp) c.7317A>T (p.Glu2439Asp) c.6210A>T (p.Glu2070Asp) c.10236A>T (p.Glu3412Asp) c.5988A>T (p.Glu1996Asp) c.9216A>T (p.Glu3072Asp) | |
8 | g.99853746C>A | CA371781736 | VPS13B | c.10432C>A (p.Pro3478Thr) n.10502C>A c.*6114C>A (n.*6114C>A) c.10357C>A (p.Pro3453Thr) c.10429C>A (p.Pro3477Thr) c.10354C>A (p.Pro3452Thr) c.10054C>A (p.Pro3352Thr) c.7318C>A (p.Pro2440Thr) c.6211C>A (p.Pro2071Thr) c.10237C>A (p.Pro3413Thr) c.5989C>A (p.Pro1997Thr) c.9217C>A (p.Pro3073Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853746C>G | CA371781738 | VPS13B | c.10432C>G (p.Pro3478Ala) n.10502C>G c.*6114C>G (n.*6114C>G) c.10357C>G (p.Pro3453Ala) c.10429C>G (p.Pro3477Ala) c.10354C>G (p.Pro3452Ala) c.10054C>G (p.Pro3352Ala) c.7318C>G (p.Pro2440Ala) c.6211C>G (p.Pro2071Ala) c.10237C>G (p.Pro3413Ala) c.5989C>G (p.Pro1997Ala) c.9217C>G (p.Pro3073Ala) | |
8 | g.99853746C>T | CA4824935 | VPS13B | c.10432C>T (p.Pro3478Ser) n.10502C>T c.*6114C>T (n.*6114C>T) c.10357C>T (p.Pro3453Ser) c.10429C>T (p.Pro3477Ser) c.10354C>T (p.Pro3452Ser) c.10054C>T (p.Pro3352Ser) c.7318C>T (p.Pro2440Ser) c.6211C>T (p.Pro2071Ser) c.10237C>T (p.Pro3413Ser) c.5989C>T (p.Pro1997Ser) c.9217C>T (p.Pro3073Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853747C>A | CA371781745 | VPS13B | c.10433C>A (p.Pro3478His) n.10503C>A c.*6115C>A (n.*6115C>A) c.10358C>A (p.Pro3453His) c.10430C>A (p.Pro3477His) c.10355C>A (p.Pro3452His) c.10055C>A (p.Pro3352His) c.7319C>A (p.Pro2440His) c.6212C>A (p.Pro2071His) c.10238C>A (p.Pro3413His) c.5990C>A (p.Pro1997His) c.9218C>A (p.Pro3073His) | |
8 | g.99853747C>G | CA371781747 | VPS13B | c.10433C>G (p.Pro3478Arg) n.10503C>G c.*6115C>G (n.*6115C>G) c.10358C>G (p.Pro3453Arg) c.10430C>G (p.Pro3477Arg) c.10355C>G (p.Pro3452Arg) c.10055C>G (p.Pro3352Arg) c.7319C>G (p.Pro2440Arg) c.6212C>G (p.Pro2071Arg) c.10238C>G (p.Pro3413Arg) c.5990C>G (p.Pro1997Arg) c.9218C>G (p.Pro3073Arg) | gnomAD v4 |
8 | g.99853747C>T | CA371781748 | VPS13B | c.10433C>T (p.Pro3478Leu) n.10503C>T c.*6115C>T (n.*6115C>T) c.10358C>T (p.Pro3453Leu) c.10430C>T (p.Pro3477Leu) c.10355C>T (p.Pro3452Leu) c.10055C>T (p.Pro3352Leu) c.7319C>T (p.Pro2440Leu) c.6212C>T (p.Pro2071Leu) c.10238C>T (p.Pro3413Leu) c.5990C>T (p.Pro1997Leu) c.9218C>T (p.Pro3073Leu) | gnomAD v4 |
8 | g.99853748_99853752del | CA913128140 | VPS13B | c.10434_10438del (p.Ile3479ValfsTer?) n.10504_10508del c.*6116_*6120del (n.*6116_*6120del) c.10359_10363del (p.Ile3454ValfsTer?) c.10431_10435del (p.Ile3478ValfsTer?) c.10356_10360del (p.Ile3453ValfsTer?) c.10056_10060del (p.Ile3353ValfsTer?) c.7320_7324del (p.Ile2441ValfsTer?) c.6213_6217del (p.Ile2072ValfsTer?) c.10239_10243del (p.Ile3414ValfsTer?) c.5991_5995del (p.Ile1998ValfsTer?) c.9219_9223del (p.Ile3074ValfsTer?) | |
8 | g.99853748C>A | CA462458240 | VPS13B | c.10434C>A (p.Pro3478=) n.10504C>A c.*6116C>A (n.*6116C>A) c.10359C>A (p.Pro3453=) c.10431C>A (p.Pro3477=) c.10356C>A (p.Pro3452=) c.10056C>A (p.Pro3352=) c.7320C>A (p.Pro2440=) c.6213C>A (p.Pro2071=) c.10239C>A (p.Pro3413=) c.5991C>A (p.Pro1997=) c.9219C>A (p.Pro3073=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99853748C>G | CA462458242 | VPS13B | c.10434C>G (p.Pro3478=) n.10504C>G c.*6116C>G (n.*6116C>G) c.10359C>G (p.Pro3453=) c.10431C>G (p.Pro3477=) c.10356C>G (p.Pro3452=) c.10056C>G (p.Pro3352=) c.7320C>G (p.Pro2440=) c.6213C>G (p.Pro2071=) c.10239C>G (p.Pro3413=) c.5991C>G (p.Pro1997=) c.9219C>G (p.Pro3073=) | |
8 | g.99853748C>T | CA462458243 | VPS13B | c.10434C>T (p.Pro3478=) n.10504C>T c.*6116C>T (n.*6116C>T) c.10359C>T (p.Pro3453=) c.10431C>T (p.Pro3477=) c.10356C>T (p.Pro3452=) c.10056C>T (p.Pro3352=) c.7320C>T (p.Pro2440=) c.6213C>T (p.Pro2071=) c.10239C>T (p.Pro3413=) c.5991C>T (p.Pro1997=) c.9219C>T (p.Pro3073=) | ClinVar dbSNP |
8 | g.99853750_99853753del | CA658821912 | VPS13B | c.10436_10439del (p.Ile3479SerfsTer30) n.10506_10509del c.*6118_*6121del (n.*6118_*6121del) c.10361_10364del (p.Ile3454SerfsTer30) c.10433_10436del (p.Ile3478SerfsTer30) c.10358_10361del (p.Ile3453SerfsTer30) c.10058_10061del (p.Ile3353SerfsTer30) c.7322_7325del (p.Ile2441SerfsTer30) c.6215_6218del (p.Ile2072SerfsTer30) c.10241_10244del (p.Ile3414SerfsTer30) c.5993_5996del (p.Ile1998SerfsTer30) c.9221_9224del (p.Ile3074SerfsTer30) | ClinVar dbSNP |
8 | g.99853749A>C | CA371781749 | VPS13B | c.10435A>C (p.Ile3479Leu) n.10505A>C c.*6117A>C (n.*6117A>C) c.10360A>C (p.Ile3454Leu) c.10432A>C (p.Ile3478Leu) c.10357A>C (p.Ile3453Leu) c.10057A>C (p.Ile3353Leu) c.7321A>C (p.Ile2441Leu) c.6214A>C (p.Ile2072Leu) c.10240A>C (p.Ile3414Leu) c.5992A>C (p.Ile1998Leu) c.9220A>C (p.Ile3074Leu) | |
8 | g.99853749A>G | CA371781751 | VPS13B | c.10435A>G (p.Ile3479Val) n.10505A>G c.*6117A>G (n.*6117A>G) c.10360A>G (p.Ile3454Val) c.10432A>G (p.Ile3478Val) c.10357A>G (p.Ile3453Val) c.10057A>G (p.Ile3353Val) c.7321A>G (p.Ile2441Val) c.6214A>G (p.Ile2072Val) c.10240A>G (p.Ile3414Val) c.5992A>G (p.Ile1998Val) c.9220A>G (p.Ile3074Val) | |
8 | g.99853749A>T | CA371781750 | VPS13B | c.10435A>T (p.Ile3479Phe) n.10505A>T c.*6117A>T (n.*6117A>T) c.10360A>T (p.Ile3454Phe) c.10432A>T (p.Ile3478Phe) c.10357A>T (p.Ile3453Phe) c.10057A>T (p.Ile3353Phe) c.7321A>T (p.Ile2441Phe) c.6214A>T (p.Ile2072Phe) c.10240A>T (p.Ile3414Phe) c.5992A>T (p.Ile1998Phe) c.9220A>T (p.Ile3074Phe) | |
8 | g.99853750T>A | CA371781753 | VPS13B | c.10436T>A (p.Ile3479Asn) n.10506T>A c.*6118T>A (n.*6118T>A) c.10361T>A (p.Ile3454Asn) c.10433T>A (p.Ile3478Asn) c.10358T>A (p.Ile3453Asn) c.10058T>A (p.Ile3353Asn) c.7322T>A (p.Ile2441Asn) c.6215T>A (p.Ile2072Asn) c.10241T>A (p.Ile3414Asn) c.5993T>A (p.Ile1998Asn) c.9221T>A (p.Ile3074Asn) | |
8 | g.99853750T>C | CA371781756 | VPS13B | c.10436T>C (p.Ile3479Thr) n.10506T>C c.*6118T>C (n.*6118T>C) c.10361T>C (p.Ile3454Thr) c.10433T>C (p.Ile3478Thr) c.10358T>C (p.Ile3453Thr) c.10058T>C (p.Ile3353Thr) c.7322T>C (p.Ile2441Thr) c.6215T>C (p.Ile2072Thr) c.10241T>C (p.Ile3414Thr) c.5993T>C (p.Ile1998Thr) c.9221T>C (p.Ile3074Thr) | |
8 | g.99853750T>G | CA371781758 | VPS13B | c.10436T>G (p.Ile3479Ser) n.10506T>G c.*6118T>G (n.*6118T>G) c.10361T>G (p.Ile3454Ser) c.10433T>G (p.Ile3478Ser) c.10358T>G (p.Ile3453Ser) c.10058T>G (p.Ile3353Ser) c.7322T>G (p.Ile2441Ser) c.6215T>G (p.Ile2072Ser) c.10241T>G (p.Ile3414Ser) c.5993T>G (p.Ile1998Ser) c.9221T>G (p.Ile3074Ser) | |
8 | g.99853751T>A | CA462458246 | VPS13B | c.10437T>A (p.Ile3479=) n.10507T>A c.*6119T>A (n.*6119T>A) c.10362T>A (p.Ile3454=) c.10434T>A (p.Ile3478=) c.10359T>A (p.Ile3453=) c.10059T>A (p.Ile3353=) c.7323T>A (p.Ile2441=) c.6216T>A (p.Ile2072=) c.10242T>A (p.Ile3414=) c.5994T>A (p.Ile1998=) c.9222T>A (p.Ile3074=) | |
8 | g.99853751T>C | CA462458245 | VPS13B | c.10437T>C (p.Ile3479=) n.10507T>C c.*6119T>C (n.*6119T>C) c.10362T>C (p.Ile3454=) c.10434T>C (p.Ile3478=) c.10359T>C (p.Ile3453=) c.10059T>C (p.Ile3353=) c.7323T>C (p.Ile2441=) c.6216T>C (p.Ile2072=) c.10242T>C (p.Ile3414=) c.5994T>C (p.Ile1998=) c.9222T>C (p.Ile3074=) | |
8 | g.99853751T>G | CA371781761 | VPS13B | c.10437T>G (p.Ile3479Met) n.10507T>G c.*6119T>G (n.*6119T>G) c.10362T>G (p.Ile3454Met) c.10434T>G (p.Ile3478Met) c.10359T>G (p.Ile3453Met) c.10059T>G (p.Ile3353Met) c.7323T>G (p.Ile2441Met) c.6216T>G (p.Ile2072Met) c.10242T>G (p.Ile3414Met) c.5994T>G (p.Ile1998Met) c.9222T>G (p.Ile3074Met) | |
8 | g.99853752C>A | CA371781765 | VPS13B | c.10438C>A (p.Gln3480Lys) n.10508C>A c.*6120C>A (n.*6120C>A) c.10363C>A (p.Gln3455Lys) c.10435C>A (p.Gln3479Lys) c.10360C>A (p.Gln3454Lys) c.10060C>A (p.Gln3354Lys) c.7324C>A (p.Gln2442Lys) c.6217C>A (p.Gln2073Lys) c.10243C>A (p.Gln3415Lys) c.5995C>A (p.Gln1999Lys) c.9223C>A (p.Gln3075Lys) | |
8 | g.99853752C>G | CA371781770 | VPS13B | c.10438C>G (p.Gln3480Glu) n.10508C>G c.*6120C>G (n.*6120C>G) c.10363C>G (p.Gln3455Glu) c.10435C>G (p.Gln3479Glu) c.10360C>G (p.Gln3454Glu) c.10060C>G (p.Gln3354Glu) c.7324C>G (p.Gln2442Glu) c.6217C>G (p.Gln2073Glu) c.10243C>G (p.Gln3415Glu) c.5995C>G (p.Gln1999Glu) c.9223C>G (p.Gln3075Glu) | |
8 | g.99853752C>T | CA371781771 | VPS13B | c.10438C>T (p.Gln3480Ter) n.10508C>T c.*6120C>T (n.*6120C>T) c.10363C>T (p.Gln3455Ter) c.10435C>T (p.Gln3479Ter) c.10360C>T (p.Gln3454Ter) c.10060C>T (p.Gln3354Ter) c.7324C>T (p.Gln2442Ter) c.6217C>T (p.Gln2073Ter) c.10243C>T (p.Gln3415Ter) c.5995C>T (p.Gln1999Ter) c.9223C>T (p.Gln3075Ter) | |
8 | g.99853753A>C | CA371781772 | VPS13B | c.10439A>C (p.Gln3480Pro) n.10509A>C c.*6121A>C (n.*6121A>C) c.10364A>C (p.Gln3455Pro) c.10436A>C (p.Gln3479Pro) c.10361A>C (p.Gln3454Pro) c.10061A>C (p.Gln3354Pro) c.7325A>C (p.Gln2442Pro) c.6218A>C (p.Gln2073Pro) c.10244A>C (p.Gln3415Pro) c.5996A>C (p.Gln1999Pro) c.9224A>C (p.Gln3075Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853753A>G | CA4824936 | VPS13B | c.10439A>G (p.Gln3480Arg) n.10509A>G c.*6121A>G (n.*6121A>G) c.10364A>G (p.Gln3455Arg) c.10436A>G (p.Gln3479Arg) c.10361A>G (p.Gln3454Arg) c.10061A>G (p.Gln3354Arg) c.7325A>G (p.Gln2442Arg) c.6218A>G (p.Gln2073Arg) c.10244A>G (p.Gln3415Arg) c.5996A>G (p.Gln1999Arg) c.9224A>G (p.Gln3075Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853753A>T | CA371781779 | VPS13B | c.10439A>T (p.Gln3480Leu) n.10509A>T c.*6121A>T (n.*6121A>T) c.10364A>T (p.Gln3455Leu) c.10436A>T (p.Gln3479Leu) c.10361A>T (p.Gln3454Leu) c.10061A>T (p.Gln3354Leu) c.7325A>T (p.Gln2442Leu) c.6218A>T (p.Gln2073Leu) c.10244A>T (p.Gln3415Leu) c.5996A>T (p.Gln1999Leu) c.9224A>T (p.Gln3075Leu) | |
8 | g.99853754G>A | CA462458249 | VPS13B | c.10440G>A (p.Gln3480=) n.10510G>A c.*6122G>A (n.*6122G>A) c.10365G>A (p.Gln3455=) c.10437G>A (p.Gln3479=) c.10362G>A (p.Gln3454=) c.10062G>A (p.Gln3354=) c.7326G>A (p.Gln2442=) c.6219G>A (p.Gln2073=) c.10245G>A (p.Gln3415=) c.5997G>A (p.Gln1999=) c.9225G>A (p.Gln3075=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.99853754G>C | CA371781783 | VPS13B | c.10440G>C (p.Gln3480His) n.10510G>C c.*6122G>C (n.*6122G>C) c.10365G>C (p.Gln3455His) c.10437G>C (p.Gln3479His) c.10362G>C (p.Gln3454His) c.10062G>C (p.Gln3354His) c.7326G>C (p.Gln2442His) c.6219G>C (p.Gln2073His) c.10245G>C (p.Gln3415His) c.5997G>C (p.Gln1999His) c.9225G>C (p.Gln3075His) | |
8 | g.99853754G>T | CA371781787 | VPS13B | c.10440G>T (p.Gln3480His) n.10510G>T c.*6122G>T (n.*6122G>T) c.10365G>T (p.Gln3455His) c.10437G>T (p.Gln3479His) c.10362G>T (p.Gln3454His) c.10062G>T (p.Gln3354His) c.7326G>T (p.Gln2442His) c.6219G>T (p.Gln2073His) c.10245G>T (p.Gln3415His) c.5997G>T (p.Gln1999His) c.9225G>T (p.Gln3075His) | |
8 | g.99853755T>A | CA371781790 | VPS13B | c.10441T>A (p.Cys3481Ser) n.10511T>A c.*6123T>A (n.*6123T>A) c.10366T>A (p.Cys3456Ser) c.10438T>A (p.Cys3480Ser) c.10363T>A (p.Cys3455Ser) c.10063T>A (p.Cys3355Ser) c.7327T>A (p.Cys2443Ser) c.6220T>A (p.Cys2074Ser) c.10246T>A (p.Cys3416Ser) c.5998T>A (p.Cys2000Ser) c.9226T>A (p.Cys3076Ser) | |
8 | g.99853755T>C | CA371781793 | VPS13B | c.10441T>C (p.Cys3481Arg) n.10511T>C c.*6123T>C (n.*6123T>C) c.10366T>C (p.Cys3456Arg) c.10438T>C (p.Cys3480Arg) c.10363T>C (p.Cys3455Arg) c.10063T>C (p.Cys3355Arg) c.7327T>C (p.Cys2443Arg) c.6220T>C (p.Cys2074Arg) c.10246T>C (p.Cys3416Arg) c.5998T>C (p.Cys2000Arg) c.9226T>C (p.Cys3076Arg) | |
8 | g.99853755T>G | CA371781791 | VPS13B | c.10441T>G (p.Cys3481Gly) n.10511T>G c.*6123T>G (n.*6123T>G) c.10366T>G (p.Cys3456Gly) c.10438T>G (p.Cys3480Gly) c.10363T>G (p.Cys3455Gly) c.10063T>G (p.Cys3355Gly) c.7327T>G (p.Cys2443Gly) c.6220T>G (p.Cys2074Gly) c.10246T>G (p.Cys3416Gly) c.5998T>G (p.Cys2000Gly) c.9226T>G (p.Cys3076Gly) | |
8 | g.99853756G>A | CA371782505 | VPS13B | c.10442G>A (p.Cys3481Tyr) n.10512G>A c.*6124G>A (n.*6124G>A) c.10367G>A (p.Cys3456Tyr) c.10439G>A (p.Cys3480Tyr) c.10364G>A (p.Cys3455Tyr) c.10064G>A (p.Cys3355Tyr) c.7328G>A (p.Cys2443Tyr) c.6221G>A (p.Cys2074Tyr) c.10247G>A (p.Cys3416Tyr) c.5999G>A (p.Cys2000Tyr) c.9227G>A (p.Cys3076Tyr) | |
8 | g.99853756G>C | CA371782508 | VPS13B | c.10442G>C (p.Cys3481Ser) n.10512G>C c.*6124G>C (n.*6124G>C) c.10367G>C (p.Cys3456Ser) c.10439G>C (p.Cys3480Ser) c.10364G>C (p.Cys3455Ser) c.10064G>C (p.Cys3355Ser) c.7328G>C (p.Cys2443Ser) c.6221G>C (p.Cys2074Ser) c.10247G>C (p.Cys3416Ser) c.5999G>C (p.Cys2000Ser) c.9227G>C (p.Cys3076Ser) | |
8 | g.99853756G>T | CA371782511 | VPS13B | c.10442G>T (p.Cys3481Phe) n.10512G>T c.*6124G>T (n.*6124G>T) c.10367G>T (p.Cys3456Phe) c.10439G>T (p.Cys3480Phe) c.10364G>T (p.Cys3455Phe) c.10064G>T (p.Cys3355Phe) c.7328G>T (p.Cys2443Phe) c.6221G>T (p.Cys2074Phe) c.10247G>T (p.Cys3416Phe) c.5999G>T (p.Cys2000Phe) c.9227G>T (p.Cys3076Phe) | |
8 | g.99853757T>A | CA371782516 | VPS13B | c.10443T>A (p.Cys3481Ter) n.10513T>A c.*6125T>A (n.*6125T>A) c.10368T>A (p.Cys3456Ter) c.10440T>A (p.Cys3480Ter) c.10365T>A (p.Cys3455Ter) c.10065T>A (p.Cys3355Ter) c.7329T>A (p.Cys2443Ter) c.6222T>A (p.Cys2074Ter) c.10248T>A (p.Cys3416Ter) c.6000T>A (p.Cys2000Ter) c.9228T>A (p.Cys3076Ter) | |
8 | g.99853757T>C | CA462458154 | VPS13B | c.10443T>C (p.Cys3481=) n.10513T>C c.*6125T>C (n.*6125T>C) c.10368T>C (p.Cys3456=) c.10440T>C (p.Cys3480=) c.10365T>C (p.Cys3455=) c.10065T>C (p.Cys3355=) c.7329T>C (p.Cys2443=) c.6222T>C (p.Cys2074=) c.10248T>C (p.Cys3416=) c.6000T>C (p.Cys2000=) c.9228T>C (p.Cys3076=) | |
8 | g.99853757T>G | CA371782517 | VPS13B | c.10443T>G (p.Cys3481Trp) n.10513T>G c.*6125T>G (n.*6125T>G) c.10368T>G (p.Cys3456Trp) c.10440T>G (p.Cys3480Trp) c.10365T>G (p.Cys3455Trp) c.10065T>G (p.Cys3355Trp) c.7329T>G (p.Cys2443Trp) c.6222T>G (p.Cys2074Trp) c.10248T>G (p.Cys3416Trp) c.6000T>G (p.Cys2000Trp) c.9228T>G (p.Cys3076Trp) | |
8 | g.99853758T>A | CA371782523 | VPS13B | c.10444T>A (p.Ser3482Thr) n.10514T>A c.*6126T>A (n.*6126T>A) c.10369T>A (p.Ser3457Thr) c.10441T>A (p.Ser3481Thr) c.10366T>A (p.Ser3456Thr) c.10066T>A (p.Ser3356Thr) c.7330T>A (p.Ser2444Thr) c.6223T>A (p.Ser2075Thr) c.10249T>A (p.Ser3417Thr) c.6001T>A (p.Ser2001Thr) c.9229T>A (p.Ser3077Thr) | |
8 | g.99853758T>C | CA371782520 | VPS13B | c.10444T>C (p.Ser3482Pro) n.10514T>C c.*6126T>C (n.*6126T>C) c.10369T>C (p.Ser3457Pro) c.10441T>C (p.Ser3481Pro) c.10366T>C (p.Ser3456Pro) c.10066T>C (p.Ser3356Pro) c.7330T>C (p.Ser2444Pro) c.6223T>C (p.Ser2075Pro) c.10249T>C (p.Ser3417Pro) c.6001T>C (p.Ser2001Pro) c.9229T>C (p.Ser3077Pro) | |
8 | g.99853758T>G | CA371782518 | VPS13B | c.10444T>G (p.Ser3482Ala) n.10514T>G c.*6126T>G (n.*6126T>G) c.10369T>G (p.Ser3457Ala) c.10441T>G (p.Ser3481Ala) c.10366T>G (p.Ser3456Ala) c.10066T>G (p.Ser3356Ala) c.7330T>G (p.Ser2444Ala) c.6223T>G (p.Ser2075Ala) c.10249T>G (p.Ser3417Ala) c.6001T>G (p.Ser2001Ala) c.9229T>G (p.Ser3077Ala) | |
8 | g.99853759C>A | CA371782527 | VPS13B | c.10445C>A (p.Ser3482Tyr) n.10515C>A c.*6127C>A (n.*6127C>A) c.10370C>A (p.Ser3457Tyr) c.10442C>A (p.Ser3481Tyr) c.10367C>A (p.Ser3456Tyr) c.10067C>A (p.Ser3356Tyr) c.7331C>A (p.Ser2444Tyr) c.6224C>A (p.Ser2075Tyr) c.10250C>A (p.Ser3417Tyr) c.6002C>A (p.Ser2001Tyr) c.9230C>A (p.Ser3077Tyr) | |
8 | g.99853759C>G | CA371782532 | VPS13B | c.10445C>G (p.Ser3482Cys) n.10515C>G c.*6127C>G (n.*6127C>G) c.10370C>G (p.Ser3457Cys) c.10442C>G (p.Ser3481Cys) c.10367C>G (p.Ser3456Cys) c.10067C>G (p.Ser3356Cys) c.7331C>G (p.Ser2444Cys) c.6224C>G (p.Ser2075Cys) c.10250C>G (p.Ser3417Cys) c.6002C>G (p.Ser2001Cys) c.9230C>G (p.Ser3077Cys) | |
8 | g.99853759C>T | CA371782534 | VPS13B | c.10445C>T (p.Ser3482Phe) n.10515C>T c.*6127C>T (n.*6127C>T) c.10370C>T (p.Ser3457Phe) c.10442C>T (p.Ser3481Phe) c.10367C>T (p.Ser3456Phe) c.10067C>T (p.Ser3356Phe) c.7331C>T (p.Ser2444Phe) c.6224C>T (p.Ser2075Phe) c.10250C>T (p.Ser3417Phe) c.6002C>T (p.Ser2001Phe) c.9230C>T (p.Ser3077Phe) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99853760C>A | CA462458157 | VPS13B | c.10446C>A (p.Ser3482=) n.10516C>A c.*6128C>A (n.*6128C>A) c.10371C>A (p.Ser3457=) c.10443C>A (p.Ser3481=) c.10368C>A (p.Ser3456=) c.10068C>A (p.Ser3356=) c.7332C>A (p.Ser2444=) c.6225C>A (p.Ser2075=) c.10251C>A (p.Ser3417=) c.6003C>A (p.Ser2001=) c.9231C>A (p.Ser3077=) | |
8 | g.99853760C>G | CA462458158 | VPS13B | c.10446C>G (p.Ser3482=) n.10516C>G c.*6128C>G (n.*6128C>G) c.10371C>G (p.Ser3457=) c.10443C>G (p.Ser3481=) c.10368C>G (p.Ser3456=) c.10068C>G (p.Ser3356=) c.7332C>G (p.Ser2444=) c.6225C>G (p.Ser2075=) c.10251C>G (p.Ser3417=) c.6003C>G (p.Ser2001=) c.9231C>G (p.Ser3077=) | |
8 | g.99853760C>T | CA462458159 | VPS13B | c.10446C>T (p.Ser3482=) n.10516C>T c.*6128C>T (n.*6128C>T) c.10371C>T (p.Ser3457=) c.10443C>T (p.Ser3481=) c.10368C>T (p.Ser3456=) c.10068C>T (p.Ser3356=) c.7332C>T (p.Ser2444=) c.6225C>T (p.Ser2075=) c.10251C>T (p.Ser3417=) c.6003C>T (p.Ser2001=) c.9231C>T (p.Ser3077=) | ClinVar |
8 | g.99853761A>C | CA371782535 | VPS13B | c.10447A>C (p.Lys3483Gln) n.10517A>C c.*6129A>C (n.*6129A>C) c.10372A>C (p.Lys3458Gln) c.10444A>C (p.Lys3482Gln) c.10369A>C (p.Lys3457Gln) c.10069A>C (p.Lys3357Gln) c.7333A>C (p.Lys2445Gln) c.6226A>C (p.Lys2076Gln) c.10252A>C (p.Lys3418Gln) c.6004A>C (p.Lys2002Gln) c.9232A>C (p.Lys3078Gln) | |
8 | g.99853761A>G | CA371782537 | VPS13B | c.10447A>G (p.Lys3483Glu) n.10517A>G c.*6129A>G (n.*6129A>G) c.10372A>G (p.Lys3458Glu) c.10444A>G (p.Lys3482Glu) c.10369A>G (p.Lys3457Glu) c.10069A>G (p.Lys3357Glu) c.7333A>G (p.Lys2445Glu) c.6226A>G (p.Lys2076Glu) c.10252A>G (p.Lys3418Glu) c.6004A>G (p.Lys2002Glu) c.9232A>G (p.Lys3078Glu) | dbSNP |
8 | g.99853761A>T | CA371782540 | VPS13B | c.10447A>T (p.Lys3483Ter) n.10517A>T c.*6129A>T (n.*6129A>T) c.10372A>T (p.Lys3458Ter) c.10444A>T (p.Lys3482Ter) c.10369A>T (p.Lys3457Ter) c.10069A>T (p.Lys3357Ter) c.7333A>T (p.Lys2445Ter) c.6226A>T (p.Lys2076Ter) c.10252A>T (p.Lys3418Ter) c.6004A>T (p.Lys2002Ter) c.9232A>T (p.Lys3078Ter) | |
8 | g.99853762A>C | CA4824937 | VPS13B | c.10448A>C (p.Lys3483Thr) n.10518A>C c.*6130A>C (n.*6130A>C) c.10373A>C (p.Lys3458Thr) c.10445A>C (p.Lys3482Thr) c.10370A>C (p.Lys3457Thr) c.10070A>C (p.Lys3357Thr) c.7334A>C (p.Lys2445Thr) c.6227A>C (p.Lys2076Thr) c.10253A>C (p.Lys3418Thr) c.6005A>C (p.Lys2002Thr) c.9233A>C (p.Lys3078Thr) | dbSNP ExAC gnomAD v2 |
8 | g.99853762A>G | CA371782551 | VPS13B | c.10448A>G (p.Lys3483Arg) n.10518A>G c.*6130A>G (n.*6130A>G) c.10373A>G (p.Lys3458Arg) c.10445A>G (p.Lys3482Arg) c.10370A>G (p.Lys3457Arg) c.10070A>G (p.Lys3357Arg) c.7334A>G (p.Lys2445Arg) c.6227A>G (p.Lys2076Arg) c.10253A>G (p.Lys3418Arg) c.6005A>G (p.Lys2002Arg) c.9233A>G (p.Lys3078Arg) | gnomAD v4 |
8 | g.99853762A>T | CA371782550 | VPS13B | c.10448A>T (p.Lys3483Ile) n.10518A>T c.*6130A>T (n.*6130A>T) c.10373A>T (p.Lys3458Ile) c.10445A>T (p.Lys3482Ile) c.10370A>T (p.Lys3457Ile) c.10070A>T (p.Lys3357Ile) c.7334A>T (p.Lys2445Ile) c.6227A>T (p.Lys2076Ile) c.10253A>T (p.Lys3418Ile) c.6005A>T (p.Lys2002Ile) c.9233A>T (p.Lys3078Ile) | |
8 | g.99853763A>C | CA371782552 | VPS13B | c.10449A>C (p.Lys3483Asn) n.10519A>C c.*6131A>C (n.*6131A>C) c.10374A>C (p.Lys3458Asn) c.10446A>C (p.Lys3482Asn) c.10371A>C (p.Lys3457Asn) c.10071A>C (p.Lys3357Asn) c.7335A>C (p.Lys2445Asn) c.6228A>C (p.Lys2076Asn) c.10254A>C (p.Lys3418Asn) c.6006A>C (p.Lys2002Asn) c.9234A>C (p.Lys3078Asn) | |
8 | g.99853763A>G | CA462458162 | VPS13B | c.10449A>G (p.Lys3483=) n.10519A>G c.*6131A>G (n.*6131A>G) c.10374A>G (p.Lys3458=) c.10446A>G (p.Lys3482=) c.10371A>G (p.Lys3457=) c.10071A>G (p.Lys3357=) c.7335A>G (p.Lys2445=) c.6228A>G (p.Lys2076=) c.10254A>G (p.Lys3418=) c.6006A>G (p.Lys2002=) c.9234A>G (p.Lys3078=) | |
8 | g.99853763A>T | CA371782554 | VPS13B | c.10449A>T (p.Lys3483Asn) n.10519A>T c.*6131A>T (n.*6131A>T) c.10374A>T (p.Lys3458Asn) c.10446A>T (p.Lys3482Asn) c.10371A>T (p.Lys3457Asn) c.10071A>T (p.Lys3357Asn) c.7335A>T (p.Lys2445Asn) c.6228A>T (p.Lys2076Asn) c.10254A>T (p.Lys3418Asn) c.6006A>T (p.Lys2002Asn) c.9234A>T (p.Lys3078Asn) | |
8 | g.99853764A>C | CA371782557 | VPS13B | c.10450A>C (p.Met3484Leu) n.10520A>C c.*6132A>C (n.*6132A>C) c.10375A>C (p.Met3459Leu) c.10447A>C (p.Met3483Leu) c.10372A>C (p.Met3458Leu) c.10072A>C (p.Met3358Leu) c.7336A>C (p.Met2446Leu) c.6229A>C (p.Met2077Leu) c.10255A>C (p.Met3419Leu) c.6007A>C (p.Met2003Leu) c.9235A>C (p.Met3079Leu) | |
8 | g.99853764A>G | CA371782560 | VPS13B | c.10450A>G (p.Met3484Val) n.10520A>G c.*6132A>G (n.*6132A>G) c.10375A>G (p.Met3459Val) c.10447A>G (p.Met3483Val) c.10372A>G (p.Met3458Val) c.10072A>G (p.Met3358Val) c.7336A>G (p.Met2446Val) c.6229A>G (p.Met2077Val) c.10255A>G (p.Met3419Val) c.6007A>G (p.Met2003Val) c.9235A>G (p.Met3079Val) | |
8 | g.99853764A>T | CA371782561 | VPS13B | c.10450A>T (p.Met3484Leu) n.10520A>T c.*6132A>T (n.*6132A>T) c.10375A>T (p.Met3459Leu) c.10447A>T (p.Met3483Leu) c.10372A>T (p.Met3458Leu) c.10072A>T (p.Met3358Leu) c.7336A>T (p.Met2446Leu) c.6229A>T (p.Met2077Leu) c.10255A>T (p.Met3419Leu) c.6007A>T (p.Met2003Leu) c.9235A>T (p.Met3079Leu) | |
8 | g.99853765T>A | CA371782562 | VPS13B | c.10451T>A (p.Met3484Lys) n.10521T>A c.*6133T>A (n.*6133T>A) c.10376T>A (p.Met3459Lys) c.10448T>A (p.Met3483Lys) c.10373T>A (p.Met3458Lys) c.10073T>A (p.Met3358Lys) c.7337T>A (p.Met2446Lys) c.6230T>A (p.Met2077Lys) c.10256T>A (p.Met3419Lys) c.6008T>A (p.Met2003Lys) c.9236T>A (p.Met3079Lys) | |
8 | g.99853765T>C | CA4824938 | VPS13B | c.10451T>C (p.Met3484Thr) n.10521T>C c.*6133T>C (n.*6133T>C) c.10376T>C (p.Met3459Thr) c.10448T>C (p.Met3483Thr) c.10373T>C (p.Met3458Thr) c.10073T>C (p.Met3358Thr) c.7337T>C (p.Met2446Thr) c.6230T>C (p.Met2077Thr) c.10256T>C (p.Met3419Thr) c.6008T>C (p.Met2003Thr) c.9236T>C (p.Met3079Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853765T>G | CA371782572 | VPS13B | c.10451T>G (p.Met3484Arg) n.10521T>G c.*6133T>G (n.*6133T>G) c.10376T>G (p.Met3459Arg) c.10448T>G (p.Met3483Arg) c.10373T>G (p.Met3458Arg) c.10073T>G (p.Met3358Arg) c.7337T>G (p.Met2446Arg) c.6230T>G (p.Met2077Arg) c.10256T>G (p.Met3419Arg) c.6008T>G (p.Met2003Arg) c.9236T>G (p.Met3079Arg) | |
8 | g.99853766G>A | CA4824939 | VPS13B | c.10452G>A (p.Met3484Ile) n.10522G>A c.*6134G>A (n.*6134G>A) c.10377G>A (p.Met3459Ile) c.10449G>A (p.Met3483Ile) c.10374G>A (p.Met3458Ile) c.10074G>A (p.Met3358Ile) c.7338G>A (p.Met2446Ile) c.6231G>A (p.Met2077Ile) c.10257G>A (p.Met3419Ile) c.6009G>A (p.Met2003Ile) c.9237G>A (p.Met3079Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853766G>C | CA371782578 | VPS13B | c.10452G>C (p.Met3484Ile) n.10522G>C c.*6134G>C (n.*6134G>C) c.10377G>C (p.Met3459Ile) c.10449G>C (p.Met3483Ile) c.10374G>C (p.Met3458Ile) c.10074G>C (p.Met3358Ile) c.7338G>C (p.Met2446Ile) c.6231G>C (p.Met2077Ile) c.10257G>C (p.Met3419Ile) c.6009G>C (p.Met2003Ile) c.9237G>C (p.Met3079Ile) | |
8 | g.99853766G>T | CA371782579 | VPS13B | c.10452G>T (p.Met3484Ile) n.10522G>T c.*6134G>T (n.*6134G>T) c.10377G>T (p.Met3459Ile) c.10449G>T (p.Met3483Ile) c.10374G>T (p.Met3458Ile) c.10074G>T (p.Met3358Ile) c.7338G>T (p.Met2446Ile) c.6231G>T (p.Met2077Ile) c.10257G>T (p.Met3419Ile) c.6009G>T (p.Met2003Ile) c.9237G>T (p.Met3079Ile) | |
8 | g.99853767C>A | CA371782583 | VPS13B | c.10453C>A (p.Gln3485Lys) n.10523C>A c.*6135C>A (n.*6135C>A) c.10378C>A (p.Gln3460Lys) c.10450C>A (p.Gln3484Lys) c.10375C>A (p.Gln3459Lys) c.10075C>A (p.Gln3359Lys) c.7339C>A (p.Gln2447Lys) c.6232C>A (p.Gln2078Lys) c.10258C>A (p.Gln3420Lys) c.6010C>A (p.Gln2004Lys) c.9238C>A (p.Gln3080Lys) | gnomAD v4 |
8 | g.99853767C>G | CA371782580 | VPS13B | c.10453C>G (p.Gln3485Glu) n.10523C>G c.*6135C>G (n.*6135C>G) c.10378C>G (p.Gln3460Glu) c.10450C>G (p.Gln3484Glu) c.10375C>G (p.Gln3459Glu) c.10075C>G (p.Gln3359Glu) c.7339C>G (p.Gln2447Glu) c.6232C>G (p.Gln2078Glu) c.10258C>G (p.Gln3420Glu) c.6010C>G (p.Gln2004Glu) c.9238C>G (p.Gln3080Glu) | |
8 | g.99853767C>T | CA371782581 | VPS13B | c.10453C>T (p.Gln3485Ter) n.10523C>T c.*6135C>T (n.*6135C>T) c.10378C>T (p.Gln3460Ter) c.10450C>T (p.Gln3484Ter) c.10375C>T (p.Gln3459Ter) c.10075C>T (p.Gln3359Ter) c.7339C>T (p.Gln2447Ter) c.6232C>T (p.Gln2078Ter) c.10258C>T (p.Gln3420Ter) c.6010C>T (p.Gln2004Ter) c.9238C>T (p.Gln3080Ter) | |
8 | g.99853768A>C | CA371782590 | VPS13B | c.10454A>C (p.Gln3485Pro) n.10524A>C c.*6136A>C (n.*6136A>C) c.10379A>C (p.Gln3460Pro) c.10451A>C (p.Gln3484Pro) c.10376A>C (p.Gln3459Pro) c.10076A>C (p.Gln3359Pro) c.7340A>C (p.Gln2447Pro) c.6233A>C (p.Gln2078Pro) c.10259A>C (p.Gln3420Pro) c.6011A>C (p.Gln2004Pro) c.9239A>C (p.Gln3080Pro) | |
8 | g.99853768A>G | CA371782591 | VPS13B | c.10454A>G (p.Gln3485Arg) n.10524A>G c.*6136A>G (n.*6136A>G) c.10379A>G (p.Gln3460Arg) c.10451A>G (p.Gln3484Arg) c.10376A>G (p.Gln3459Arg) c.10076A>G (p.Gln3359Arg) c.7340A>G (p.Gln2447Arg) c.6233A>G (p.Gln2078Arg) c.10259A>G (p.Gln3420Arg) c.6011A>G (p.Gln2004Arg) c.9239A>G (p.Gln3080Arg) | |
8 | g.99853768A>T | CA371782592 | VPS13B | c.10454A>T (p.Gln3485Leu) n.10524A>T c.*6136A>T (n.*6136A>T) c.10379A>T (p.Gln3460Leu) c.10451A>T (p.Gln3484Leu) c.10376A>T (p.Gln3459Leu) c.10076A>T (p.Gln3359Leu) c.7340A>T (p.Gln2447Leu) c.6233A>T (p.Gln2078Leu) c.10259A>T (p.Gln3420Leu) c.6011A>T (p.Gln2004Leu) c.9239A>T (p.Gln3080Leu) | |
8 | g.99853770_99853771del | CA284769 | VPS13B | c.10456_10457del (p.Leu3487ProfsTer24) n.10526_10527del c.*6138_*6139del (n.*6138_*6139del) c.10381_10382del (p.Leu3462ProfsTer24) c.10453_10454del (p.Leu3486ProfsTer24) c.10378_10379del (p.Leu3461ProfsTer24) c.10078_10079del (p.Leu3361ProfsTer24) c.7342_7343del (p.Leu2449ProfsTer24) c.6235_6236del (p.Leu2080ProfsTer24) c.10261_10262del (p.Leu3422ProfsTer24) c.6013_6014del (p.Leu2006ProfsTer24) c.9241_9242del (p.Leu3082ProfsTer24) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99853769G>A | CA462458171 | VPS13B | c.10455G>A (p.Gln3485=) n.10525G>A c.*6137G>A (n.*6137G>A) c.10380G>A (p.Gln3460=) c.10452G>A (p.Gln3484=) c.10377G>A (p.Gln3459=) c.10077G>A (p.Gln3359=) c.7341G>A (p.Gln2447=) c.6234G>A (p.Gln2078=) c.10260G>A (p.Gln3420=) c.6012G>A (p.Gln2004=) c.9240G>A (p.Gln3080=) | |
8 | g.99853769G>C | CA371782598 | VPS13B | c.10455G>C (p.Gln3485His) n.10525G>C c.*6137G>C (n.*6137G>C) c.10380G>C (p.Gln3460His) c.10452G>C (p.Gln3484His) c.10377G>C (p.Gln3459His) c.10077G>C (p.Gln3359His) c.7341G>C (p.Gln2447His) c.6234G>C (p.Gln2078His) c.10260G>C (p.Gln3420His) c.6012G>C (p.Gln2004His) c.9240G>C (p.Gln3080His) | |
8 | g.99853769G>T | CA371782602 | VPS13B | c.10455G>T (p.Gln3485His) n.10525G>T c.*6137G>T (n.*6137G>T) c.10380G>T (p.Gln3460His) c.10452G>T (p.Gln3484His) c.10377G>T (p.Gln3459His) c.10077G>T (p.Gln3359His) c.7341G>T (p.Gln2447His) c.6234G>T (p.Gln2078His) c.10260G>T (p.Gln3420His) c.6012G>T (p.Gln2004His) c.9240G>T (p.Gln3080His) | |
8 | g.99853770A>C | CA371782610 | VPS13B | c.10456A>C (p.Ser3486Arg) n.10526A>C c.*6138A>C (n.*6138A>C) c.10381A>C (p.Ser3461Arg) c.10453A>C (p.Ser3485Arg) c.10378A>C (p.Ser3460Arg) c.10078A>C (p.Ser3360Arg) c.7342A>C (p.Ser2448Arg) c.6235A>C (p.Ser2079Arg) c.10261A>C (p.Ser3421Arg) c.6013A>C (p.Ser2005Arg) c.9241A>C (p.Ser3081Arg) | |
8 | g.99853770A>G | CA371782608 | VPS13B | c.10456A>G (p.Ser3486Gly) n.10526A>G c.*6138A>G (n.*6138A>G) c.10381A>G (p.Ser3461Gly) c.10453A>G (p.Ser3485Gly) c.10378A>G (p.Ser3460Gly) c.10078A>G (p.Ser3360Gly) c.7342A>G (p.Ser2448Gly) c.6235A>G (p.Ser2079Gly) c.10261A>G (p.Ser3421Gly) c.6013A>G (p.Ser2005Gly) c.9241A>G (p.Ser3081Gly) | |
8 | g.99853770A>T | CA371782605 | VPS13B | c.10456A>T (p.Ser3486Cys) n.10526A>T c.*6138A>T (n.*6138A>T) c.10381A>T (p.Ser3461Cys) c.10453A>T (p.Ser3485Cys) c.10378A>T (p.Ser3460Cys) c.10078A>T (p.Ser3360Cys) c.7342A>T (p.Ser2448Cys) c.6235A>T (p.Ser2079Cys) c.10261A>T (p.Ser3421Cys) c.6013A>T (p.Ser2005Cys) c.9241A>T (p.Ser3081Cys) | dbSNP gnomAD v2 gnomAD v4 |