Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.99835596A>C | CA371783968 | VPS13B | c.9875A>C (p.His3292Pro) n.9945A>C c.*5557A>C (n.*5557A>C) c.9800A>C (p.His3267Pro) c.9872A>C (p.His3291Pro) c.9797A>C (p.His3266Pro) c.9497A>C (p.His3166Pro) c.6761A>C (p.His2254Pro) c.5654A>C (p.His1885Pro) c.9680A>C (p.His3227Pro) c.5432A>C (p.His1811Pro) c.8660A>C (p.His2887Pro) | |
8 | g.99835596A>G | CA371783969 | VPS13B | c.9875A>G (p.His3292Arg) n.9945A>G c.*5557A>G (n.*5557A>G) c.9800A>G (p.His3267Arg) c.9872A>G (p.His3291Arg) c.9797A>G (p.His3266Arg) c.9497A>G (p.His3166Arg) c.6761A>G (p.His2254Arg) c.5654A>G (p.His1885Arg) c.9680A>G (p.His3227Arg) c.5432A>G (p.His1811Arg) c.8660A>G (p.His2887Arg) | dbSNP |
8 | g.99835596A>T | CA371783971 | VPS13B | c.9875A>T (p.His3292Leu) n.9945A>T c.*5557A>T (n.*5557A>T) c.9800A>T (p.His3267Leu) c.9872A>T (p.His3291Leu) c.9797A>T (p.His3266Leu) c.9497A>T (p.His3166Leu) c.6761A>T (p.His2254Leu) c.5654A>T (p.His1885Leu) c.9680A>T (p.His3227Leu) c.5432A>T (p.His1811Leu) c.8660A>T (p.His2887Leu) | |
8 | g.99835597T>A | CA371783973 | VPS13B | c.9876T>A (p.His3292Gln) n.9946T>A c.*5558T>A (n.*5558T>A) c.9801T>A (p.His3267Gln) c.9873T>A (p.His3291Gln) c.9798T>A (p.His3266Gln) c.9498T>A (p.His3166Gln) c.6762T>A (p.His2254Gln) c.5655T>A (p.His1885Gln) c.9681T>A (p.His3227Gln) c.5433T>A (p.His1811Gln) c.8661T>A (p.His2887Gln) | |
8 | g.99835597T>C | CA462340745 | VPS13B | c.9876T>C (p.His3292=) n.9946T>C c.*5558T>C (n.*5558T>C) c.9801T>C (p.His3267=) c.9873T>C (p.His3291=) c.9798T>C (p.His3266=) c.9498T>C (p.His3166=) c.6762T>C (p.His2254=) c.5655T>C (p.His1885=) c.9681T>C (p.His3227=) c.5433T>C (p.His1811=) c.8661T>C (p.His2887=) | dbSNP |
8 | g.99835597T>G | CA371783976 | VPS13B | c.9876T>G (p.His3292Gln) n.9946T>G c.*5558T>G (n.*5558T>G) c.9801T>G (p.His3267Gln) c.9873T>G (p.His3291Gln) c.9798T>G (p.His3266Gln) c.9498T>G (p.His3166Gln) c.6762T>G (p.His2254Gln) c.5655T>G (p.His1885Gln) c.9681T>G (p.His3227Gln) c.5433T>G (p.His1811Gln) c.8661T>G (p.His2887Gln) | gnomAD v4 |
8 | g.99835598del | CA2602581395 | VPS13B | c.9877del (p.Glu3293SerfsTer23) n.9947del c.*5559del (n.*5559del) c.9802del (p.Glu3268SerfsTer23) c.9874del (p.Glu3292SerfsTer23) c.9799del (p.Glu3267SerfsTer23) c.9499del (p.Glu3167SerfsTer23) c.6763del (p.Glu2255SerfsTer23) c.5656del (p.Glu1886SerfsTer23) c.9682del (p.Glu3228SerfsTer23) c.5434del (p.Glu1812SerfsTer23) c.8662del (p.Glu2888SerfsTer23) | gnomAD v3 gnomAD v4 |
8 | g.99835598G>A | CA371783984 | VPS13B | c.9877G>A (p.Glu3293Lys) n.9947G>A c.*5559G>A (n.*5559G>A) c.9802G>A (p.Glu3268Lys) c.9874G>A (p.Glu3292Lys) c.9799G>A (p.Glu3267Lys) c.9499G>A (p.Glu3167Lys) c.6763G>A (p.Glu2255Lys) c.5656G>A (p.Glu1886Lys) c.9682G>A (p.Glu3228Lys) c.5434G>A (p.Glu1812Lys) c.8662G>A (p.Glu2888Lys) | |
8 | g.99835598G>C | CA371783989 | VPS13B | c.9877G>C (p.Glu3293Gln) n.9947G>C c.*5559G>C (n.*5559G>C) c.9802G>C (p.Glu3268Gln) c.9874G>C (p.Glu3292Gln) c.9799G>C (p.Glu3267Gln) c.9499G>C (p.Glu3167Gln) c.6763G>C (p.Glu2255Gln) c.5656G>C (p.Glu1886Gln) c.9682G>C (p.Glu3228Gln) c.5434G>C (p.Glu1812Gln) c.8662G>C (p.Glu2888Gln) | |
8 | g.99835598G>T | CA371783992 | VPS13B | c.9877G>T (p.Glu3293Ter) n.9947G>T c.*5559G>T (n.*5559G>T) c.9802G>T (p.Glu3268Ter) c.9874G>T (p.Glu3292Ter) c.9799G>T (p.Glu3267Ter) c.9499G>T (p.Glu3167Ter) c.6763G>T (p.Glu2255Ter) c.5656G>T (p.Glu1886Ter) c.9682G>T (p.Glu3228Ter) c.5434G>T (p.Glu1812Ter) c.8662G>T (p.Glu2888Ter) | |
8 | g.99835599A>C | CA371783994 | VPS13B | c.9878A>C (p.Glu3293Ala) n.9948A>C c.*5560A>C (n.*5560A>C) c.9803A>C (p.Glu3268Ala) c.9875A>C (p.Glu3292Ala) c.9800A>C (p.Glu3267Ala) c.9500A>C (p.Glu3167Ala) c.6764A>C (p.Glu2255Ala) c.5657A>C (p.Glu1886Ala) c.9683A>C (p.Glu3228Ala) c.5435A>C (p.Glu1812Ala) c.8663A>C (p.Glu2888Ala) | |
8 | g.99835599A>G | CA371783996 | VPS13B | c.9878A>G (p.Glu3293Gly) n.9948A>G c.*5560A>G (n.*5560A>G) c.9803A>G (p.Glu3268Gly) c.9875A>G (p.Glu3292Gly) c.9800A>G (p.Glu3267Gly) c.9500A>G (p.Glu3167Gly) c.6764A>G (p.Glu2255Gly) c.5657A>G (p.Glu1886Gly) c.9683A>G (p.Glu3228Gly) c.5435A>G (p.Glu1812Gly) c.8663A>G (p.Glu2888Gly) | |
8 | g.99835599A>T | CA371783999 | VPS13B | c.9878A>T (p.Glu3293Val) n.9948A>T c.*5560A>T (n.*5560A>T) c.9803A>T (p.Glu3268Val) c.9875A>T (p.Glu3292Val) c.9800A>T (p.Glu3267Val) c.9500A>T (p.Glu3167Val) c.6764A>T (p.Glu2255Val) c.5657A>T (p.Glu1886Val) c.9683A>T (p.Glu3228Val) c.5435A>T (p.Glu1812Val) c.8663A>T (p.Glu2888Val) | |
8 | g.99835600G>A | CA462340750 | VPS13B | c.9879G>A (p.Glu3293=) n.9949G>A c.*5561G>A (n.*5561G>A) c.9804G>A (p.Glu3268=) c.9876G>A (p.Glu3292=) c.9801G>A (p.Glu3267=) c.9501G>A (p.Glu3167=) c.6765G>A (p.Glu2255=) c.5658G>A (p.Glu1886=) c.9684G>A (p.Glu3228=) c.5436G>A (p.Glu1812=) c.8664G>A (p.Glu2888=) | dbSNP gnomAD v4 |
8 | g.99835600G>C | CA371784002 | VPS13B | c.9879G>C (p.Glu3293Asp) n.9949G>C c.*5561G>C (n.*5561G>C) c.9804G>C (p.Glu3268Asp) c.9876G>C (p.Glu3292Asp) c.9801G>C (p.Glu3267Asp) c.9501G>C (p.Glu3167Asp) c.6765G>C (p.Glu2255Asp) c.5658G>C (p.Glu1886Asp) c.9684G>C (p.Glu3228Asp) c.5436G>C (p.Glu1812Asp) c.8664G>C (p.Glu2888Asp) | gnomAD v3 gnomAD v4 |
8 | g.99835600G>T | CA371784007 | VPS13B | c.9879G>T (p.Glu3293Asp) n.9949G>T c.*5561G>T (n.*5561G>T) c.9804G>T (p.Glu3268Asp) c.9876G>T (p.Glu3292Asp) c.9801G>T (p.Glu3267Asp) c.9501G>T (p.Glu3167Asp) c.6765G>T (p.Glu2255Asp) c.5658G>T (p.Glu1886Asp) c.9684G>T (p.Glu3228Asp) c.5436G>T (p.Glu1812Asp) c.8664G>T (p.Glu2888Asp) | |
8 | g.99835601C>A | CA371784011 | VPS13B | c.9880C>A (p.Leu3294Met) n.9950C>A c.*5562C>A (n.*5562C>A) c.9805C>A (p.Leu3269Met) c.9877C>A (p.Leu3293Met) c.9802C>A (p.Leu3268Met) c.9502C>A (p.Leu3168Met) c.6766C>A (p.Leu2256Met) c.5659C>A (p.Leu1887Met) c.9685C>A (p.Leu3229Met) c.5437C>A (p.Leu1813Met) c.8665C>A (p.Leu2889Met) | |
8 | g.99835601C>G | CA371784014 | VPS13B | c.9880C>G (p.Leu3294Val) n.9950C>G c.*5562C>G (n.*5562C>G) c.9805C>G (p.Leu3269Val) c.9877C>G (p.Leu3293Val) c.9802C>G (p.Leu3268Val) c.9502C>G (p.Leu3168Val) c.6766C>G (p.Leu2256Val) c.5659C>G (p.Leu1887Val) c.9685C>G (p.Leu3229Val) c.5437C>G (p.Leu1813Val) c.8665C>G (p.Leu2889Val) | |
8 | g.99835601C>T | CA462340754 | VPS13B | c.9880C>T (p.Leu3294=) n.9950C>T c.*5562C>T (n.*5562C>T) c.9805C>T (p.Leu3269=) c.9877C>T (p.Leu3293=) c.9802C>T (p.Leu3268=) c.9502C>T (p.Leu3168=) c.6766C>T (p.Leu2256=) c.5659C>T (p.Leu1887=) c.9685C>T (p.Leu3229=) c.5437C>T (p.Leu1813=) c.8665C>T (p.Leu2889=) | |
8 | g.99835602T>A | CA371784021 | VPS13B | c.9881T>A (p.Leu3294Gln) n.9951T>A c.*5563T>A (n.*5563T>A) c.9806T>A (p.Leu3269Gln) c.9878T>A (p.Leu3293Gln) c.9803T>A (p.Leu3268Gln) c.9503T>A (p.Leu3168Gln) c.6767T>A (p.Leu2256Gln) c.5660T>A (p.Leu1887Gln) c.9686T>A (p.Leu3229Gln) c.5438T>A (p.Leu1813Gln) c.8666T>A (p.Leu2889Gln) | |
8 | g.99835602T>C | CA182339652 | VPS13B | c.9881T>C (p.Leu3294Pro) n.9951T>C c.*5563T>C (n.*5563T>C) c.9806T>C (p.Leu3269Pro) c.9878T>C (p.Leu3293Pro) c.9803T>C (p.Leu3268Pro) c.9503T>C (p.Leu3168Pro) c.6767T>C (p.Leu2256Pro) c.5660T>C (p.Leu1887Pro) c.9686T>C (p.Leu3229Pro) c.5438T>C (p.Leu1813Pro) c.8666T>C (p.Leu2889Pro) | dbSNP |
8 | g.99835602T>G | CA371784017 | VPS13B | c.9881T>G (p.Leu3294Arg) n.9951T>G c.*5563T>G (n.*5563T>G) c.9806T>G (p.Leu3269Arg) c.9878T>G (p.Leu3293Arg) c.9803T>G (p.Leu3268Arg) c.9503T>G (p.Leu3168Arg) c.6767T>G (p.Leu2256Arg) c.5660T>G (p.Leu1887Arg) c.9686T>G (p.Leu3229Arg) c.5438T>G (p.Leu1813Arg) c.8666T>G (p.Leu2889Arg) | |
8 | g.99835603G>A | CA462340757 | VPS13B | c.9882G>A (p.Leu3294=) n.9952G>A c.*5564G>A (n.*5564G>A) c.9807G>A (p.Leu3269=) c.9879G>A (p.Leu3293=) c.9804G>A (p.Leu3268=) c.9504G>A (p.Leu3168=) c.6768G>A (p.Leu2256=) c.5661G>A (p.Leu1887=) c.9687G>A (p.Leu3229=) c.5439G>A (p.Leu1813=) c.8667G>A (p.Leu2889=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.99835603G>C | CA462340758 | VPS13B | c.9882G>C (p.Leu3294=) n.9952G>C c.*5564G>C (n.*5564G>C) c.9807G>C (p.Leu3269=) c.9879G>C (p.Leu3293=) c.9804G>C (p.Leu3268=) c.9504G>C (p.Leu3168=) c.6768G>C (p.Leu2256=) c.5661G>C (p.Leu1887=) c.9687G>C (p.Leu3229=) c.5439G>C (p.Leu1813=) c.8667G>C (p.Leu2889=) | |
8 | g.99835603G>T | CA462340760 | VPS13B | c.9882G>T (p.Leu3294=) n.9952G>T c.*5564G>T (n.*5564G>T) c.9807G>T (p.Leu3269=) c.9879G>T (p.Leu3293=) c.9804G>T (p.Leu3268=) c.9504G>T (p.Leu3168=) c.6768G>T (p.Leu2256=) c.5661G>T (p.Leu1887=) c.9687G>T (p.Leu3229=) c.5439G>T (p.Leu1813=) c.8667G>T (p.Leu2889=) | |
8 | g.99835604T>A | CA371784023 | VPS13B | c.9883T>A (p.Tyr3295Asn) n.9953T>A c.*5565T>A (n.*5565T>A) c.9808T>A (p.Tyr3270Asn) c.9880T>A (p.Tyr3294Asn) c.9805T>A (p.Tyr3269Asn) c.9505T>A (p.Tyr3169Asn) c.6769T>A (p.Tyr2257Asn) c.5662T>A (p.Tyr1888Asn) c.9688T>A (p.Tyr3230Asn) c.5440T>A (p.Tyr1814Asn) c.8668T>A (p.Tyr2890Asn) | gnomAD v4 |
8 | g.99835604T>C | CA371784024 | VPS13B | c.9883T>C (p.Tyr3295His) n.9953T>C c.*5565T>C (n.*5565T>C) c.9808T>C (p.Tyr3270His) c.9880T>C (p.Tyr3294His) c.9805T>C (p.Tyr3269His) c.9505T>C (p.Tyr3169His) c.6769T>C (p.Tyr2257His) c.5662T>C (p.Tyr1888His) c.9688T>C (p.Tyr3230His) c.5440T>C (p.Tyr1814His) c.8668T>C (p.Tyr2890His) | ClinVar |
8 | g.99835604T>G | CA371784026 | VPS13B | c.9883T>G (p.Tyr3295Asp) n.9953T>G c.*5565T>G (n.*5565T>G) c.9808T>G (p.Tyr3270Asp) c.9880T>G (p.Tyr3294Asp) c.9805T>G (p.Tyr3269Asp) c.9505T>G (p.Tyr3169Asp) c.6769T>G (p.Tyr2257Asp) c.5662T>G (p.Tyr1888Asp) c.9688T>G (p.Tyr3230Asp) c.5440T>G (p.Tyr1814Asp) c.8668T>G (p.Tyr2890Asp) | |
8 | g.99835605A>C | CA371784027 | VPS13B | c.9884A>C (p.Tyr3295Ser) n.9954A>C c.*5566A>C (n.*5566A>C) c.9809A>C (p.Tyr3270Ser) c.9881A>C (p.Tyr3294Ser) c.9806A>C (p.Tyr3269Ser) c.9506A>C (p.Tyr3169Ser) c.6770A>C (p.Tyr2257Ser) c.5663A>C (p.Tyr1888Ser) c.9689A>C (p.Tyr3230Ser) c.5441A>C (p.Tyr1814Ser) c.8669A>C (p.Tyr2890Ser) | |
8 | g.99835605A>G | CA371784028 | VPS13B | c.9884A>G (p.Tyr3295Cys) n.9954A>G c.*5566A>G (n.*5566A>G) c.9809A>G (p.Tyr3270Cys) c.9881A>G (p.Tyr3294Cys) c.9806A>G (p.Tyr3269Cys) c.9506A>G (p.Tyr3169Cys) c.6770A>G (p.Tyr2257Cys) c.5663A>G (p.Tyr1888Cys) c.9689A>G (p.Tyr3230Cys) c.5441A>G (p.Tyr1814Cys) c.8669A>G (p.Tyr2890Cys) | |
8 | g.99835605A>T | CA371784034 | VPS13B | c.9884A>T (p.Tyr3295Phe) n.9954A>T c.*5566A>T (n.*5566A>T) c.9809A>T (p.Tyr3270Phe) c.9881A>T (p.Tyr3294Phe) c.9806A>T (p.Tyr3269Phe) c.9506A>T (p.Tyr3169Phe) c.6770A>T (p.Tyr2257Phe) c.5663A>T (p.Tyr1888Phe) c.9689A>T (p.Tyr3230Phe) c.5441A>T (p.Tyr1814Phe) c.8669A>T (p.Tyr2890Phe) | |
8 | g.99835606T>A | CA371784040 | VPS13B | c.9885T>A (p.Tyr3295Ter) n.9955T>A c.*5567T>A (n.*5567T>A) c.9810T>A (p.Tyr3270Ter) c.9882T>A (p.Tyr3294Ter) c.9807T>A (p.Tyr3269Ter) c.9507T>A (p.Tyr3169Ter) c.6771T>A (p.Tyr2257Ter) c.5664T>A (p.Tyr1888Ter) c.9690T>A (p.Tyr3230Ter) c.5442T>A (p.Tyr1814Ter) c.8670T>A (p.Tyr2890Ter) | |
8 | g.99835606T>C | CA462340769 | VPS13B | c.9885T>C (p.Tyr3295=) n.9955T>C c.*5567T>C (n.*5567T>C) c.9810T>C (p.Tyr3270=) c.9882T>C (p.Tyr3294=) c.9807T>C (p.Tyr3269=) c.9507T>C (p.Tyr3169=) c.6771T>C (p.Tyr2257=) c.5664T>C (p.Tyr1888=) c.9690T>C (p.Tyr3230=) c.5442T>C (p.Tyr1814=) c.8670T>C (p.Tyr2890=) | |
8 | g.99835606T>G | CA371784042 | VPS13B | c.9885T>G (p.Tyr3295Ter) n.9955T>G c.*5567T>G (n.*5567T>G) c.9810T>G (p.Tyr3270Ter) c.9882T>G (p.Tyr3294Ter) c.9807T>G (p.Tyr3269Ter) c.9507T>G (p.Tyr3169Ter) c.6771T>G (p.Tyr2257Ter) c.5664T>G (p.Tyr1888Ter) c.9690T>G (p.Tyr3230Ter) c.5442T>G (p.Tyr1814Ter) c.8670T>G (p.Tyr2890Ter) | |
8 | g.99835607C>A | CA371784045 | VPS13B | c.9886C>A (p.His3296Asn) n.9956C>A c.*5568C>A (n.*5568C>A) c.9811C>A (p.His3271Asn) c.9883C>A (p.His3295Asn) c.9808C>A (p.His3270Asn) c.9508C>A (p.His3170Asn) c.6772C>A (p.His2258Asn) c.5665C>A (p.His1889Asn) c.9691C>A (p.His3231Asn) c.5443C>A (p.His1815Asn) c.8671C>A (p.His2891Asn) | |
8 | g.99835607C>G | CA371784047 | VPS13B | c.9886C>G (p.His3296Asp) n.9956C>G c.*5568C>G (n.*5568C>G) c.9811C>G (p.His3271Asp) c.9883C>G (p.His3295Asp) c.9808C>G (p.His3270Asp) c.9508C>G (p.His3170Asp) c.6772C>G (p.His2258Asp) c.5665C>G (p.His1889Asp) c.9691C>G (p.His3231Asp) c.5443C>G (p.His1815Asp) c.8671C>G (p.His2891Asp) | |
8 | g.99835607C>T | CA371784050 | VPS13B | c.9886C>T (p.His3296Tyr) n.9956C>T c.*5568C>T (n.*5568C>T) c.9811C>T (p.His3271Tyr) c.9883C>T (p.His3295Tyr) c.9808C>T (p.His3270Tyr) c.9508C>T (p.His3170Tyr) c.6772C>T (p.His2258Tyr) c.5665C>T (p.His1889Tyr) c.9691C>T (p.His3231Tyr) c.5443C>T (p.His1815Tyr) c.8671C>T (p.His2891Tyr) | dbSNP |
8 | g.99835608A>C | CA371784066 | VPS13B | c.9887A>C (p.His3296Pro) n.9957A>C c.*5569A>C (n.*5569A>C) c.9812A>C (p.His3271Pro) c.9884A>C (p.His3295Pro) c.9809A>C (p.His3270Pro) c.9509A>C (p.His3170Pro) c.6773A>C (p.His2258Pro) c.5666A>C (p.His1889Pro) c.9692A>C (p.His3231Pro) c.5444A>C (p.His1815Pro) c.8672A>C (p.His2891Pro) | gnomAD v4 |
8 | g.99835608A>G | CA371784061 | VPS13B | c.9887A>G (p.His3296Arg) n.9957A>G c.*5569A>G (n.*5569A>G) c.9812A>G (p.His3271Arg) c.9884A>G (p.His3295Arg) c.9809A>G (p.His3270Arg) c.9509A>G (p.His3170Arg) c.6773A>G (p.His2258Arg) c.5666A>G (p.His1889Arg) c.9692A>G (p.His3231Arg) c.5444A>G (p.His1815Arg) c.8672A>G (p.His2891Arg) | |
8 | g.99835608A>T | CA371784054 | VPS13B | c.9887A>T (p.His3296Leu) n.9957A>T c.*5569A>T (n.*5569A>T) c.9812A>T (p.His3271Leu) c.9884A>T (p.His3295Leu) c.9809A>T (p.His3270Leu) c.9509A>T (p.His3170Leu) c.6773A>T (p.His2258Leu) c.5666A>T (p.His1889Leu) c.9692A>T (p.His3231Leu) c.5444A>T (p.His1815Leu) c.8672A>T (p.His2891Leu) | |
8 | g.99835609T>A | CA371784068 | VPS13B | c.9888T>A (p.His3296Gln) n.9958T>A c.*5570T>A (n.*5570T>A) c.9813T>A (p.His3271Gln) c.9885T>A (p.His3295Gln) c.9810T>A (p.His3270Gln) c.9510T>A (p.His3170Gln) c.6774T>A (p.His2258Gln) c.5667T>A (p.His1889Gln) c.9693T>A (p.His3231Gln) c.5445T>A (p.His1815Gln) c.8673T>A (p.His2891Gln) | |
8 | g.99835609T>C | CA462340777 | VPS13B | c.9888T>C (p.His3296=) n.9958T>C c.*5570T>C (n.*5570T>C) c.9813T>C (p.His3271=) c.9885T>C (p.His3295=) c.9810T>C (p.His3270=) c.9510T>C (p.His3170=) c.6774T>C (p.His2258=) c.5667T>C (p.His1889=) c.9693T>C (p.His3231=) c.5445T>C (p.His1815=) c.8673T>C (p.His2891=) | |
8 | g.99835609T>G | CA371784070 | VPS13B | c.9888T>G (p.His3296Gln) n.9958T>G c.*5570T>G (n.*5570T>G) c.9813T>G (p.His3271Gln) c.9885T>G (p.His3295Gln) c.9810T>G (p.His3270Gln) c.9510T>G (p.His3170Gln) c.6774T>G (p.His2258Gln) c.5667T>G (p.His1889Gln) c.9693T>G (p.His3231Gln) c.5445T>G (p.His1815Gln) c.8673T>G (p.His2891Gln) | |
8 | g.99835610C>A | CA371784072 | VPS13B | c.9889C>A (p.Gln3297Lys) n.9959C>A c.*5571C>A (n.*5571C>A) c.9814C>A (p.Gln3272Lys) c.9886C>A (p.Gln3296Lys) c.9811C>A (p.Gln3271Lys) c.9511C>A (p.Gln3171Lys) c.6775C>A (p.Gln2259Lys) c.5668C>A (p.Gln1890Lys) c.9694C>A (p.Gln3232Lys) c.5446C>A (p.Gln1816Lys) c.8674C>A (p.Gln2892Lys) | |
8 | g.99835610C>G | CA371784078 | VPS13B | c.9889C>G (p.Gln3297Glu) n.9959C>G c.*5571C>G (n.*5571C>G) c.9814C>G (p.Gln3272Glu) c.9886C>G (p.Gln3296Glu) c.9811C>G (p.Gln3271Glu) c.9511C>G (p.Gln3171Glu) c.6775C>G (p.Gln2259Glu) c.5668C>G (p.Gln1890Glu) c.9694C>G (p.Gln3232Glu) c.5446C>G (p.Gln1816Glu) c.8674C>G (p.Gln2892Glu) | |
8 | g.99835610C>T | CA371784080 | VPS13B | c.9889C>T (p.Gln3297Ter) n.9959C>T c.*5571C>T (n.*5571C>T) c.9814C>T (p.Gln3272Ter) c.9886C>T (p.Gln3296Ter) c.9811C>T (p.Gln3271Ter) c.9511C>T (p.Gln3171Ter) c.6775C>T (p.Gln2259Ter) c.5668C>T (p.Gln1890Ter) c.9694C>T (p.Gln3232Ter) c.5446C>T (p.Gln1816Ter) c.8674C>T (p.Gln2892Ter) | |
8 | g.99835611A>C | CA371784083 | VPS13B | c.9890A>C (p.Gln3297Pro) n.9960A>C c.*5572A>C (n.*5572A>C) c.9815A>C (p.Gln3272Pro) c.9887A>C (p.Gln3296Pro) c.9812A>C (p.Gln3271Pro) c.9512A>C (p.Gln3171Pro) c.6776A>C (p.Gln2259Pro) c.5669A>C (p.Gln1890Pro) c.9695A>C (p.Gln3232Pro) c.5447A>C (p.Gln1816Pro) c.8675A>C (p.Gln2892Pro) | |
8 | g.99835611A>G | CA371784084 | VPS13B | c.9890A>G (p.Gln3297Arg) n.9960A>G c.*5572A>G (n.*5572A>G) c.9815A>G (p.Gln3272Arg) c.9887A>G (p.Gln3296Arg) c.9812A>G (p.Gln3271Arg) c.9512A>G (p.Gln3171Arg) c.6776A>G (p.Gln2259Arg) c.5669A>G (p.Gln1890Arg) c.9695A>G (p.Gln3232Arg) c.5447A>G (p.Gln1816Arg) c.8675A>G (p.Gln2892Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99835611A>T | CA371784085 | VPS13B | c.9890A>T (p.Gln3297Leu) n.9960A>T c.*5572A>T (n.*5572A>T) c.9815A>T (p.Gln3272Leu) c.9887A>T (p.Gln3296Leu) c.9812A>T (p.Gln3271Leu) c.9512A>T (p.Gln3171Leu) c.6776A>T (p.Gln2259Leu) c.5669A>T (p.Gln1890Leu) c.9695A>T (p.Gln3232Leu) c.5447A>T (p.Gln1816Leu) c.8675A>T (p.Gln2892Leu) | |
8 | g.99835612G>A | CA462340784 | VPS13B | c.9891G>A (p.Gln3297=) n.9961G>A c.*5573G>A (n.*5573G>A) c.9816G>A (p.Gln3272=) c.9888G>A (p.Gln3296=) c.9813G>A (p.Gln3271=) c.9513G>A (p.Gln3171=) c.6777G>A (p.Gln2259=) c.5670G>A (p.Gln1890=) c.9696G>A (p.Gln3232=) c.5448G>A (p.Gln1816=) c.8676G>A (p.Gln2892=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835612G>C | CA371784086 | VPS13B | c.9891G>C (p.Gln3297His) n.9961G>C c.*5573G>C (n.*5573G>C) c.9816G>C (p.Gln3272His) c.9888G>C (p.Gln3296His) c.9813G>C (p.Gln3271His) c.9513G>C (p.Gln3171His) c.6777G>C (p.Gln2259His) c.5670G>C (p.Gln1890His) c.9696G>C (p.Gln3232His) c.5448G>C (p.Gln1816His) c.8676G>C (p.Gln2892His) | gnomAD v4 |
8 | g.99835612G>T | CA371784089 | VPS13B | c.9891G>T (p.Gln3297His) n.9961G>T c.*5573G>T (n.*5573G>T) c.9816G>T (p.Gln3272His) c.9888G>T (p.Gln3296His) c.9813G>T (p.Gln3271His) c.9513G>T (p.Gln3171His) c.6777G>T (p.Gln2259His) c.5670G>T (p.Gln1890His) c.9696G>T (p.Gln3232His) c.5448G>T (p.Gln1816His) c.8676G>T (p.Gln2892His) | |
8 | g.99835613A>C | CA371784092 | VPS13B | c.9892A>C (p.Ile3298Leu) n.9962A>C c.*5574A>C (n.*5574A>C) c.9817A>C (p.Ile3273Leu) c.9889A>C (p.Ile3297Leu) c.9814A>C (p.Ile3272Leu) c.9514A>C (p.Ile3172Leu) c.6778A>C (p.Ile2260Leu) c.5671A>C (p.Ile1891Leu) c.9697A>C (p.Ile3233Leu) c.5449A>C (p.Ile1817Leu) c.8677A>C (p.Ile2893Leu) | |
8 | g.99835613A>G | CA371784094 | VPS13B | c.9892A>G (p.Ile3298Val) n.9962A>G c.*5574A>G (n.*5574A>G) c.9817A>G (p.Ile3273Val) c.9889A>G (p.Ile3297Val) c.9814A>G (p.Ile3272Val) c.9514A>G (p.Ile3172Val) c.6778A>G (p.Ile2260Val) c.5671A>G (p.Ile1891Val) c.9697A>G (p.Ile3233Val) c.5449A>G (p.Ile1817Val) c.8677A>G (p.Ile2893Val) | |
8 | g.99835613A>T | CA371784095 | VPS13B | c.9892A>T (p.Ile3298Phe) n.9962A>T c.*5574A>T (n.*5574A>T) c.9817A>T (p.Ile3273Phe) c.9889A>T (p.Ile3297Phe) c.9814A>T (p.Ile3272Phe) c.9514A>T (p.Ile3172Phe) c.6778A>T (p.Ile2260Phe) c.5671A>T (p.Ile1891Phe) c.9697A>T (p.Ile3233Phe) c.5449A>T (p.Ile1817Phe) c.8677A>T (p.Ile2893Phe) | |
8 | g.99835614T>A | CA371784099 | VPS13B | c.9893T>A (p.Ile3298Asn) n.9963T>A c.*5575T>A (n.*5575T>A) c.9818T>A (p.Ile3273Asn) c.9890T>A (p.Ile3297Asn) c.9815T>A (p.Ile3272Asn) c.9515T>A (p.Ile3172Asn) c.6779T>A (p.Ile2260Asn) c.5672T>A (p.Ile1891Asn) c.9698T>A (p.Ile3233Asn) c.5450T>A (p.Ile1817Asn) c.8678T>A (p.Ile2893Asn) | |
8 | g.99835614T>C | CA371784102 | VPS13B | c.9893T>C (p.Ile3298Thr) n.9963T>C c.*5575T>C (n.*5575T>C) c.9818T>C (p.Ile3273Thr) c.9890T>C (p.Ile3297Thr) c.9815T>C (p.Ile3272Thr) c.9515T>C (p.Ile3172Thr) c.6779T>C (p.Ile2260Thr) c.5672T>C (p.Ile1891Thr) c.9698T>C (p.Ile3233Thr) c.5450T>C (p.Ile1817Thr) c.8678T>C (p.Ile2893Thr) | dbSNP |
8 | g.99835614T>G | CA371784097 | VPS13B | c.9893T>G (p.Ile3298Ser) n.9963T>G c.*5575T>G (n.*5575T>G) c.9818T>G (p.Ile3273Ser) c.9890T>G (p.Ile3297Ser) c.9815T>G (p.Ile3272Ser) c.9515T>G (p.Ile3172Ser) c.6779T>G (p.Ile2260Ser) c.5672T>G (p.Ile1891Ser) c.9698T>G (p.Ile3233Ser) c.5450T>G (p.Ile1817Ser) c.8678T>G (p.Ile2893Ser) | |
8 | g.99835615T>A | CA462340794 | VPS13B | c.9894T>A (p.Ile3298=) n.9964T>A c.*5576T>A (n.*5576T>A) c.9819T>A (p.Ile3273=) c.9891T>A (p.Ile3297=) c.9816T>A (p.Ile3272=) c.9516T>A (p.Ile3172=) c.6780T>A (p.Ile2260=) c.5673T>A (p.Ile1891=) c.9699T>A (p.Ile3233=) c.5451T>A (p.Ile1817=) c.8679T>A (p.Ile2893=) | |
8 | g.99835615T>C | CA462340795 | VPS13B | c.9894T>C (p.Ile3298=) n.9964T>C c.*5576T>C (n.*5576T>C) c.9819T>C (p.Ile3273=) c.9891T>C (p.Ile3297=) c.9816T>C (p.Ile3272=) c.9516T>C (p.Ile3172=) c.6780T>C (p.Ile2260=) c.5673T>C (p.Ile1891=) c.9699T>C (p.Ile3233=) c.5451T>C (p.Ile1817=) c.8679T>C (p.Ile2893=) | |
8 | g.99835615T>G | CA371784104 | VPS13B | c.9894T>G (p.Ile3298Met) n.9964T>G c.*5576T>G (n.*5576T>G) c.9819T>G (p.Ile3273Met) c.9891T>G (p.Ile3297Met) c.9816T>G (p.Ile3272Met) c.9516T>G (p.Ile3172Met) c.6780T>G (p.Ile2260Met) c.5673T>G (p.Ile1891Met) c.9699T>G (p.Ile3233Met) c.5451T>G (p.Ile1817Met) c.8679T>G (p.Ile2893Met) | |
8 | g.99835616T>A | CA371784106 | VPS13B | c.9895T>A (p.Ser3299Thr) n.9965T>A c.*5577T>A (n.*5577T>A) c.9820T>A (p.Ser3274Thr) c.9892T>A (p.Ser3298Thr) c.9817T>A (p.Ser3273Thr) c.9517T>A (p.Ser3173Thr) c.6781T>A (p.Ser2261Thr) c.5674T>A (p.Ser1892Thr) c.9700T>A (p.Ser3234Thr) c.5452T>A (p.Ser1818Thr) c.8680T>A (p.Ser2894Thr) | dbSNP |
8 | g.99835616T>C | CA371784109 | VPS13B | c.9895T>C (p.Ser3299Pro) n.9965T>C c.*5577T>C (n.*5577T>C) c.9820T>C (p.Ser3274Pro) c.9892T>C (p.Ser3298Pro) c.9817T>C (p.Ser3273Pro) c.9517T>C (p.Ser3173Pro) c.6781T>C (p.Ser2261Pro) c.5674T>C (p.Ser1892Pro) c.9700T>C (p.Ser3234Pro) c.5452T>C (p.Ser1818Pro) c.8680T>C (p.Ser2894Pro) | |
8 | g.99835616T>G | CA371784112 | VPS13B | c.9895T>G (p.Ser3299Ala) n.9965T>G c.*5577T>G (n.*5577T>G) c.9820T>G (p.Ser3274Ala) c.9892T>G (p.Ser3298Ala) c.9817T>G (p.Ser3273Ala) c.9517T>G (p.Ser3173Ala) c.6781T>G (p.Ser2261Ala) c.5674T>G (p.Ser1892Ala) c.9700T>G (p.Ser3234Ala) c.5452T>G (p.Ser1818Ala) c.8680T>G (p.Ser2894Ala) | |
8 | g.99835617C>A | CA371784120 | VPS13B | c.9896C>A (p.Ser3299Tyr) n.9966C>A c.*5578C>A (n.*5578C>A) c.9821C>A (p.Ser3274Tyr) c.9893C>A (p.Ser3298Tyr) c.9818C>A (p.Ser3273Tyr) c.9518C>A (p.Ser3173Tyr) c.6782C>A (p.Ser2261Tyr) c.5675C>A (p.Ser1892Tyr) c.9701C>A (p.Ser3234Tyr) c.5453C>A (p.Ser1818Tyr) c.8681C>A (p.Ser2894Tyr) | gnomAD v4 |
8 | g.99835617C>G | CA4824807 | VPS13B | c.9896C>G (p.Ser3299Cys) n.9966C>G c.*5578C>G (n.*5578C>G) c.9821C>G (p.Ser3274Cys) c.9893C>G (p.Ser3298Cys) c.9818C>G (p.Ser3273Cys) c.9518C>G (p.Ser3173Cys) c.6782C>G (p.Ser2261Cys) c.5675C>G (p.Ser1892Cys) c.9701C>G (p.Ser3234Cys) c.5453C>G (p.Ser1818Cys) c.8681C>G (p.Ser2894Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99835617C>T | CA371784123 | VPS13B | c.9896C>T (p.Ser3299Phe) n.9966C>T c.*5578C>T (n.*5578C>T) c.9821C>T (p.Ser3274Phe) c.9893C>T (p.Ser3298Phe) c.9818C>T (p.Ser3273Phe) c.9518C>T (p.Ser3173Phe) c.6782C>T (p.Ser2261Phe) c.5675C>T (p.Ser1892Phe) c.9701C>T (p.Ser3234Phe) c.5453C>T (p.Ser1818Phe) c.8681C>T (p.Ser2894Phe) | |
8 | g.99835618C>A | CA462340801 | VPS13B | c.9897C>A (p.Ser3299=) n.9967C>A c.*5579C>A (n.*5579C>A) c.9822C>A (p.Ser3274=) c.9894C>A (p.Ser3298=) c.9819C>A (p.Ser3273=) c.9519C>A (p.Ser3173=) c.6783C>A (p.Ser2261=) c.5676C>A (p.Ser1892=) c.9702C>A (p.Ser3234=) c.5454C>A (p.Ser1818=) c.8682C>A (p.Ser2894=) | |
8 | g.99835618C>G | CA462340802 | VPS13B | c.9897C>G (p.Ser3299=) n.9967C>G c.*5579C>G (n.*5579C>G) c.9822C>G (p.Ser3274=) c.9894C>G (p.Ser3298=) c.9819C>G (p.Ser3273=) c.9519C>G (p.Ser3173=) c.6783C>G (p.Ser2261=) c.5676C>G (p.Ser1892=) c.9702C>G (p.Ser3234=) c.5454C>G (p.Ser1818=) c.8682C>G (p.Ser2894=) | |
8 | g.99835618C>T | CA462340803 | VPS13B | c.9897C>T (p.Ser3299=) n.9967C>T c.*5579C>T (n.*5579C>T) c.9822C>T (p.Ser3274=) c.9894C>T (p.Ser3298=) c.9819C>T (p.Ser3273=) c.9519C>T (p.Ser3173=) c.6783C>T (p.Ser2261=) c.5676C>T (p.Ser1892=) c.9702C>T (p.Ser3234=) c.5454C>T (p.Ser1818=) c.8682C>T (p.Ser2894=) | ClinVar dbSNP gnomAD v4 |
8 | g.99835619A>C | CA371784134 | VPS13B | c.9898A>C (p.Ser3300Arg) n.9968A>C c.*5580A>C (n.*5580A>C) c.9823A>C (p.Ser3275Arg) c.9895A>C (p.Ser3299Arg) c.9820A>C (p.Ser3274Arg) c.9520A>C (p.Ser3174Arg) c.6784A>C (p.Ser2262Arg) c.5677A>C (p.Ser1893Arg) c.9703A>C (p.Ser3235Arg) c.5455A>C (p.Ser1819Arg) c.8683A>C (p.Ser2895Arg) | |
8 | g.99835619A>G | CA371784124 | VPS13B | c.9898A>G (p.Ser3300Gly) n.9968A>G c.*5580A>G (n.*5580A>G) c.9823A>G (p.Ser3275Gly) c.9895A>G (p.Ser3299Gly) c.9820A>G (p.Ser3274Gly) c.9520A>G (p.Ser3174Gly) c.6784A>G (p.Ser2262Gly) c.5677A>G (p.Ser1893Gly) c.9703A>G (p.Ser3235Gly) c.5455A>G (p.Ser1819Gly) c.8683A>G (p.Ser2895Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99835619A>T | CA371784127 | VPS13B | c.9898A>T (p.Ser3300Cys) n.9968A>T c.*5580A>T (n.*5580A>T) c.9823A>T (p.Ser3275Cys) c.9895A>T (p.Ser3299Cys) c.9820A>T (p.Ser3274Cys) c.9520A>T (p.Ser3174Cys) c.6784A>T (p.Ser2262Cys) c.5677A>T (p.Ser1893Cys) c.9703A>T (p.Ser3235Cys) c.5455A>T (p.Ser1819Cys) c.8683A>T (p.Ser2895Cys) | |
8 | g.99835620G>A | CA371784139 | VPS13B | c.9899G>A (p.Ser3300Asn) n.9969G>A c.*5581G>A (n.*5581G>A) c.9824G>A (p.Ser3275Asn) c.9896G>A (p.Ser3299Asn) c.9821G>A (p.Ser3274Asn) c.9521G>A (p.Ser3174Asn) c.6785G>A (p.Ser2262Asn) c.5678G>A (p.Ser1893Asn) c.9704G>A (p.Ser3235Asn) c.5456G>A (p.Ser1819Asn) c.8684G>A (p.Ser2895Asn) | |
8 | g.99835620G>C | CA371784140 | VPS13B | c.9899G>C (p.Ser3300Thr) n.9969G>C c.*5581G>C (n.*5581G>C) c.9824G>C (p.Ser3275Thr) c.9896G>C (p.Ser3299Thr) c.9821G>C (p.Ser3274Thr) c.9521G>C (p.Ser3174Thr) c.6785G>C (p.Ser2262Thr) c.5678G>C (p.Ser1893Thr) c.9704G>C (p.Ser3235Thr) c.5456G>C (p.Ser1819Thr) c.8684G>C (p.Ser2895Thr) | |
8 | g.99835620G>T | CA371784147 | VPS13B | c.9899G>T (p.Ser3300Ile) n.9969G>T c.*5581G>T (n.*5581G>T) c.9824G>T (p.Ser3275Ile) c.9896G>T (p.Ser3299Ile) c.9821G>T (p.Ser3274Ile) c.9521G>T (p.Ser3174Ile) c.6785G>T (p.Ser2262Ile) c.5678G>T (p.Ser1893Ile) c.9704G>T (p.Ser3235Ile) c.5456G>T (p.Ser1819Ile) c.8684G>T (p.Ser2895Ile) | ClinVar dbSNP |
8 | g.99835621T>A | CA371784151 | VPS13B | c.9900T>A (p.Ser3300Arg) n.9970T>A c.*5582T>A (n.*5582T>A) c.9825T>A (p.Ser3275Arg) c.9897T>A (p.Ser3299Arg) c.9822T>A (p.Ser3274Arg) c.9522T>A (p.Ser3174Arg) c.6786T>A (p.Ser2262Arg) c.5679T>A (p.Ser1893Arg) c.9705T>A (p.Ser3235Arg) c.5457T>A (p.Ser1819Arg) c.8685T>A (p.Ser2895Arg) | |
8 | g.99835621T>C | CA462340809 | VPS13B | c.9900T>C (p.Ser3300=) n.9970T>C c.*5582T>C (n.*5582T>C) c.9825T>C (p.Ser3275=) c.9897T>C (p.Ser3299=) c.9822T>C (p.Ser3274=) c.9522T>C (p.Ser3174=) c.6786T>C (p.Ser2262=) c.5679T>C (p.Ser1893=) c.9705T>C (p.Ser3235=) c.5457T>C (p.Ser1819=) c.8685T>C (p.Ser2895=) | gnomAD v4 |
8 | g.99835621T>G | CA371784156 | VPS13B | c.9900T>G (p.Ser3300Arg) n.9970T>G c.*5582T>G (n.*5582T>G) c.9825T>G (p.Ser3275Arg) c.9897T>G (p.Ser3299Arg) c.9822T>G (p.Ser3274Arg) c.9522T>G (p.Ser3174Arg) c.6786T>G (p.Ser2262Arg) c.5679T>G (p.Ser1893Arg) c.9705T>G (p.Ser3235Arg) c.5457T>G (p.Ser1819Arg) c.8685T>G (p.Ser2895Arg) | |
8 | g.99835622T>A | CA371784158 | VPS13B | c.9901T>A (p.Tyr3301Asn) n.9971T>A c.*5583T>A (n.*5583T>A) c.9826T>A (p.Tyr3276Asn) c.9898T>A (p.Tyr3300Asn) c.9823T>A (p.Tyr3275Asn) c.9523T>A (p.Tyr3175Asn) c.6787T>A (p.Tyr2263Asn) c.5680T>A (p.Tyr1894Asn) c.9706T>A (p.Tyr3236Asn) c.5458T>A (p.Tyr1820Asn) c.8686T>A (p.Tyr2896Asn) | |
8 | g.99835622T>C | CA371784162 | VPS13B | c.9901T>C (p.Tyr3301His) n.9971T>C c.*5583T>C (n.*5583T>C) c.9826T>C (p.Tyr3276His) c.9898T>C (p.Tyr3300His) c.9823T>C (p.Tyr3275His) c.9523T>C (p.Tyr3175His) c.6787T>C (p.Tyr2263His) c.5680T>C (p.Tyr1894His) c.9706T>C (p.Tyr3236His) c.5458T>C (p.Tyr1820His) c.8686T>C (p.Tyr2896His) | |
8 | g.99835622T>G | CA371784160 | VPS13B | c.9901T>G (p.Tyr3301Asp) n.9971T>G c.*5583T>G (n.*5583T>G) c.9826T>G (p.Tyr3276Asp) c.9898T>G (p.Tyr3300Asp) c.9823T>G (p.Tyr3275Asp) c.9523T>G (p.Tyr3175Asp) c.6787T>G (p.Tyr2263Asp) c.5680T>G (p.Tyr1894Asp) c.9706T>G (p.Tyr3236Asp) c.5458T>G (p.Tyr1820Asp) c.8686T>G (p.Tyr2896Asp) | |
8 | g.99835623A>C | CA371784168 | VPS13B | c.9902A>C (p.Tyr3301Ser) n.9972A>C c.*5584A>C (n.*5584A>C) c.9827A>C (p.Tyr3276Ser) c.9899A>C (p.Tyr3300Ser) c.9824A>C (p.Tyr3275Ser) c.9524A>C (p.Tyr3175Ser) c.6788A>C (p.Tyr2263Ser) c.5681A>C (p.Tyr1894Ser) c.9707A>C (p.Tyr3236Ser) c.5459A>C (p.Tyr1820Ser) c.8687A>C (p.Tyr2896Ser) | |
8 | g.99835623A>G | CA4824808 | VPS13B | c.9902A>G (p.Tyr3301Cys) n.9972A>G c.*5584A>G (n.*5584A>G) c.9827A>G (p.Tyr3276Cys) c.9899A>G (p.Tyr3300Cys) c.9824A>G (p.Tyr3275Cys) c.9524A>G (p.Tyr3175Cys) c.6788A>G (p.Tyr2263Cys) c.5681A>G (p.Tyr1894Cys) c.9707A>G (p.Tyr3236Cys) c.5459A>G (p.Tyr1820Cys) c.8687A>G (p.Tyr2896Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835623A>T | CA371784169 | VPS13B | c.9902A>T (p.Tyr3301Phe) n.9972A>T c.*5584A>T (n.*5584A>T) c.9827A>T (p.Tyr3276Phe) c.9899A>T (p.Tyr3300Phe) c.9824A>T (p.Tyr3275Phe) c.9524A>T (p.Tyr3175Phe) c.6788A>T (p.Tyr2263Phe) c.5681A>T (p.Tyr1894Phe) c.9707A>T (p.Tyr3236Phe) c.5459A>T (p.Tyr1820Phe) c.8687A>T (p.Tyr2896Phe) | ClinVar dbSNP |
8 | g.99835624T>A | CA371784170 | VPS13B | c.9903T>A (p.Tyr3301Ter) n.9973T>A c.*5585T>A (n.*5585T>A) c.9828T>A (p.Tyr3276Ter) c.9900T>A (p.Tyr3300Ter) c.9825T>A (p.Tyr3275Ter) c.9525T>A (p.Tyr3175Ter) c.6789T>A (p.Tyr2263Ter) c.5682T>A (p.Tyr1894Ter) c.9708T>A (p.Tyr3236Ter) c.5460T>A (p.Tyr1820Ter) c.8688T>A (p.Tyr2896Ter) | |
8 | g.99835624T>C | CA462340819 | VPS13B | c.9903T>C (p.Tyr3301=) n.9973T>C c.*5585T>C (n.*5585T>C) c.9828T>C (p.Tyr3276=) c.9900T>C (p.Tyr3300=) c.9825T>C (p.Tyr3275=) c.9525T>C (p.Tyr3175=) c.6789T>C (p.Tyr2263=) c.5682T>C (p.Tyr1894=) c.9708T>C (p.Tyr3236=) c.5460T>C (p.Tyr1820=) c.8688T>C (p.Tyr2896=) | ClinVar |
8 | g.99835624T>G | CA371784171 | VPS13B | c.9903T>G (p.Tyr3301Ter) n.9973T>G c.*5585T>G (n.*5585T>G) c.9828T>G (p.Tyr3276Ter) c.9900T>G (p.Tyr3300Ter) c.9825T>G (p.Tyr3275Ter) c.9525T>G (p.Tyr3175Ter) c.6789T>G (p.Tyr2263Ter) c.5682T>G (p.Tyr1894Ter) c.9708T>G (p.Tyr3236Ter) c.5460T>G (p.Tyr1820Ter) c.8688T>G (p.Tyr2896Ter) | |
8 | g.99835625C>A | CA371784172 | VPS13B | c.9904C>A (p.Pro3302Thr) n.9974C>A c.*5586C>A (n.*5586C>A) c.9829C>A (p.Pro3277Thr) c.9901C>A (p.Pro3301Thr) c.9826C>A (p.Pro3276Thr) c.9526C>A (p.Pro3176Thr) c.6790C>A (p.Pro2264Thr) c.5683C>A (p.Pro1895Thr) c.9709C>A (p.Pro3237Thr) c.5461C>A (p.Pro1821Thr) c.8689C>A (p.Pro2897Thr) | |
8 | g.99835625C>G | CA371784173 | VPS13B | c.9904C>G (p.Pro3302Ala) n.9974C>G c.*5586C>G (n.*5586C>G) c.9829C>G (p.Pro3277Ala) c.9901C>G (p.Pro3301Ala) c.9826C>G (p.Pro3276Ala) c.9526C>G (p.Pro3176Ala) c.6790C>G (p.Pro2264Ala) c.5683C>G (p.Pro1895Ala) c.9709C>G (p.Pro3237Ala) c.5461C>G (p.Pro1821Ala) c.8689C>G (p.Pro2897Ala) | |
8 | g.99835625C>T | CA371784175 | VPS13B | c.9904C>T (p.Pro3302Ser) n.9974C>T c.*5586C>T (n.*5586C>T) c.9829C>T (p.Pro3277Ser) c.9901C>T (p.Pro3301Ser) c.9826C>T (p.Pro3276Ser) c.9526C>T (p.Pro3176Ser) c.6790C>T (p.Pro2264Ser) c.5683C>T (p.Pro1895Ser) c.9709C>T (p.Pro3237Ser) c.5461C>T (p.Pro1821Ser) c.8689C>T (p.Pro2897Ser) | |
8 | g.99835626del | CA16041266 | VPS13B | c.9905del (p.Pro3302ArgfsTer14) n.9975del c.*5587del (n.*5587del) c.9830del (p.Pro3277ArgfsTer14) c.9902del (p.Pro3301ArgfsTer14) c.9827del (p.Pro3276ArgfsTer14) c.9527del (p.Pro3176ArgfsTer14) c.6791del (p.Pro2264ArgfsTer14) c.5684del (p.Pro1895ArgfsTer14) c.9710del (p.Pro3237ArgfsTer14) c.5462del (p.Pro1821ArgfsTer14) c.8690del (p.Pro2897ArgfsTer14) | ClinVar dbSNP |
8 | g.99835626C>A | CA371784180 | VPS13B | c.9905C>A (p.Pro3302Gln) n.9975C>A c.*5587C>A (n.*5587C>A) c.9830C>A (p.Pro3277Gln) c.9902C>A (p.Pro3301Gln) c.9827C>A (p.Pro3276Gln) c.9527C>A (p.Pro3176Gln) c.6791C>A (p.Pro2264Gln) c.5684C>A (p.Pro1895Gln) c.9710C>A (p.Pro3237Gln) c.5462C>A (p.Pro1821Gln) c.8690C>A (p.Pro2897Gln) | |
8 | g.99835626C>G | CA371784187 | VPS13B | c.9905C>G (p.Pro3302Arg) n.9975C>G c.*5587C>G (n.*5587C>G) c.9830C>G (p.Pro3277Arg) c.9902C>G (p.Pro3301Arg) c.9827C>G (p.Pro3276Arg) c.9527C>G (p.Pro3176Arg) c.6791C>G (p.Pro2264Arg) c.5684C>G (p.Pro1895Arg) c.9710C>G (p.Pro3237Arg) c.5462C>G (p.Pro1821Arg) c.8690C>G (p.Pro2897Arg) | |
8 | g.99835626C>T | CA4824809 | VPS13B | c.9905C>T (p.Pro3302Leu) n.9975C>T c.*5587C>T (n.*5587C>T) c.9830C>T (p.Pro3277Leu) c.9902C>T (p.Pro3301Leu) c.9827C>T (p.Pro3276Leu) c.9527C>T (p.Pro3176Leu) c.6791C>T (p.Pro2264Leu) c.5684C>T (p.Pro1895Leu) c.9710C>T (p.Pro3237Leu) c.5462C>T (p.Pro1821Leu) c.8690C>T (p.Pro2897Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835627G>A | CA4824810 | VPS13B | c.9906G>A (p.Pro3302=) n.9976G>A c.*5588G>A (n.*5588G>A) c.9831G>A (p.Pro3277=) c.9903G>A (p.Pro3301=) c.9828G>A (p.Pro3276=) c.9528G>A (p.Pro3176=) c.6792G>A (p.Pro2264=) c.5685G>A (p.Pro1895=) c.9711G>A (p.Pro3237=) c.5463G>A (p.Pro1821=) c.8691G>A (p.Pro2897=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835627G>C | CA462340827 | VPS13B | c.9906G>C (p.Pro3302=) n.9976G>C c.*5588G>C (n.*5588G>C) c.9831G>C (p.Pro3277=) c.9903G>C (p.Pro3301=) c.9828G>C (p.Pro3276=) c.9528G>C (p.Pro3176=) c.6792G>C (p.Pro2264=) c.5685G>C (p.Pro1895=) c.9711G>C (p.Pro3237=) c.5463G>C (p.Pro1821=) c.8691G>C (p.Pro2897=) | |
8 | g.99835627G>T | CA462340828 | VPS13B | c.9906G>T (p.Pro3302=) n.9976G>T c.*5588G>T (n.*5588G>T) c.9831G>T (p.Pro3277=) c.9903G>T (p.Pro3301=) c.9828G>T (p.Pro3276=) c.9528G>T (p.Pro3176=) c.6792G>T (p.Pro2264=) c.5685G>T (p.Pro1895=) c.9711G>T (p.Pro3237=) c.5463G>T (p.Pro1821=) c.8691G>T (p.Pro2897=) | |
8 | g.99835628G>A | CA371784193 | VPS13B | c.9907G>A (p.Asp3303Asn) n.9977G>A c.*5589G>A (n.*5589G>A) c.9832G>A (p.Asp3278Asn) c.9904G>A (p.Asp3302Asn) c.9829G>A (p.Asp3277Asn) c.9529G>A (p.Asp3177Asn) c.6793G>A (p.Asp2265Asn) c.5686G>A (p.Asp1896Asn) c.9712G>A (p.Asp3238Asn) c.5464G>A (p.Asp1822Asn) c.8692G>A (p.Asp2898Asn) | COSMIC COSMIC |
8 | g.99835628G>C | CA371784190 | VPS13B | c.9907G>C (p.Asp3303His) n.9977G>C c.*5589G>C (n.*5589G>C) c.9832G>C (p.Asp3278His) c.9904G>C (p.Asp3302His) c.9829G>C (p.Asp3277His) c.9529G>C (p.Asp3177His) c.6793G>C (p.Asp2265His) c.5686G>C (p.Asp1896His) c.9712G>C (p.Asp3238His) c.5464G>C (p.Asp1822His) c.8692G>C (p.Asp2898His) | ClinVar |
8 | g.99835628G>T | CA371784192 | VPS13B | c.9907G>T (p.Asp3303Tyr) n.9977G>T c.*5589G>T (n.*5589G>T) c.9832G>T (p.Asp3278Tyr) c.9904G>T (p.Asp3302Tyr) c.9829G>T (p.Asp3277Tyr) c.9529G>T (p.Asp3177Tyr) c.6793G>T (p.Asp2265Tyr) c.5686G>T (p.Asp1896Tyr) c.9712G>T (p.Asp3238Tyr) c.5464G>T (p.Asp1822Tyr) c.8692G>T (p.Asp2898Tyr) | |
8 | g.99835629A>C | CA371784195 | VPS13B | c.9908A>C (p.Asp3303Ala) n.9978A>C c.*5590A>C (n.*5590A>C) c.9833A>C (p.Asp3278Ala) c.9905A>C (p.Asp3302Ala) c.9830A>C (p.Asp3277Ala) c.9530A>C (p.Asp3177Ala) c.6794A>C (p.Asp2265Ala) c.5687A>C (p.Asp1896Ala) c.9713A>C (p.Asp3238Ala) c.5465A>C (p.Asp1822Ala) c.8693A>C (p.Asp2898Ala) | |
8 | g.99835629A>G | CA371784199 | VPS13B | c.9908A>G (p.Asp3303Gly) n.9978A>G c.*5590A>G (n.*5590A>G) c.9833A>G (p.Asp3278Gly) c.9905A>G (p.Asp3302Gly) c.9830A>G (p.Asp3277Gly) c.9530A>G (p.Asp3177Gly) c.6794A>G (p.Asp2265Gly) c.5687A>G (p.Asp1896Gly) c.9713A>G (p.Asp3238Gly) c.5465A>G (p.Asp1822Gly) c.8693A>G (p.Asp2898Gly) | |
8 | g.99835629A>T | CA371784201 | VPS13B | c.9908A>T (p.Asp3303Val) n.9978A>T c.*5590A>T (n.*5590A>T) c.9833A>T (p.Asp3278Val) c.9905A>T (p.Asp3302Val) c.9830A>T (p.Asp3277Val) c.9530A>T (p.Asp3177Val) c.6794A>T (p.Asp2265Val) c.5687A>T (p.Asp1896Val) c.9713A>T (p.Asp3238Val) c.5465A>T (p.Asp1822Val) c.8693A>T (p.Asp2898Val) | |
8 | g.99835630C>A | CA371784203 | VPS13B | c.9909C>A (p.Asp3303Glu) n.9979C>A c.*5591C>A (n.*5591C>A) c.9834C>A (p.Asp3278Glu) c.9906C>A (p.Asp3302Glu) c.9831C>A (p.Asp3277Glu) c.9531C>A (p.Asp3177Glu) c.6795C>A (p.Asp2265Glu) c.5688C>A (p.Asp1896Glu) c.9714C>A (p.Asp3238Glu) c.5466C>A (p.Asp1822Glu) c.8694C>A (p.Asp2898Glu) | |
8 | g.99835630C>G | CA371784204 | VPS13B | c.9909C>G (p.Asp3303Glu) n.9979C>G c.*5591C>G (n.*5591C>G) c.9834C>G (p.Asp3278Glu) c.9906C>G (p.Asp3302Glu) c.9831C>G (p.Asp3277Glu) c.9531C>G (p.Asp3177Glu) c.6795C>G (p.Asp2265Glu) c.5688C>G (p.Asp1896Glu) c.9714C>G (p.Asp3238Glu) c.5466C>G (p.Asp1822Glu) c.8694C>G (p.Asp2898Glu) | |
8 | g.99835630C>T | CA462340834 | VPS13B | c.9909C>T (p.Asp3303=) n.9979C>T c.*5591C>T (n.*5591C>T) c.9834C>T (p.Asp3278=) c.9906C>T (p.Asp3302=) c.9831C>T (p.Asp3277=) c.9531C>T (p.Asp3177=) c.6795C>T (p.Asp2265=) c.5688C>T (p.Asp1896=) c.9714C>T (p.Asp3238=) c.5466C>T (p.Asp1822=) c.8694C>T (p.Asp2898=) | gnomAD v4 |
8 | g.99835631T>A | CA371784206 | VPS13B | c.9910T>A (p.Cys3304Ser) n.9980T>A c.*5592T>A (n.*5592T>A) c.9835T>A (p.Cys3279Ser) c.9907T>A (p.Cys3303Ser) c.9832T>A (p.Cys3278Ser) c.9532T>A (p.Cys3178Ser) c.6796T>A (p.Cys2266Ser) c.5689T>A (p.Cys1897Ser) c.9715T>A (p.Cys3239Ser) c.5467T>A (p.Cys1823Ser) c.8695T>A (p.Cys2899Ser) | |
8 | g.99835631T>C | CA371784214 | VPS13B | c.9910T>C (p.Cys3304Arg) n.9980T>C c.*5592T>C (n.*5592T>C) c.9835T>C (p.Cys3279Arg) c.9907T>C (p.Cys3303Arg) c.9832T>C (p.Cys3278Arg) c.9532T>C (p.Cys3178Arg) c.6796T>C (p.Cys2266Arg) c.5689T>C (p.Cys1897Arg) c.9715T>C (p.Cys3239Arg) c.5467T>C (p.Cys1823Arg) c.8695T>C (p.Cys2899Arg) | |
8 | g.99835631T>G | CA371784215 | VPS13B | c.9910T>G (p.Cys3304Gly) n.9980T>G c.*5592T>G (n.*5592T>G) c.9835T>G (p.Cys3279Gly) c.9907T>G (p.Cys3303Gly) c.9832T>G (p.Cys3278Gly) c.9532T>G (p.Cys3178Gly) c.6796T>G (p.Cys2266Gly) c.5689T>G (p.Cys1897Gly) c.9715T>G (p.Cys3239Gly) c.5467T>G (p.Cys1823Gly) c.8695T>G (p.Cys2899Gly) | |
8 | g.99835632G>A | CA371784217 | VPS13B | c.9911G>A (p.Cys3304Tyr) n.9981G>A c.*5593G>A (n.*5593G>A) c.9836G>A (p.Cys3279Tyr) c.9908G>A (p.Cys3303Tyr) c.9833G>A (p.Cys3278Tyr) c.9533G>A (p.Cys3178Tyr) c.6797G>A (p.Cys2266Tyr) c.5690G>A (p.Cys1897Tyr) c.9716G>A (p.Cys3239Tyr) c.5468G>A (p.Cys1823Tyr) c.8696G>A (p.Cys2899Tyr) | dbSNP |
8 | g.99835632G>C | CA371784220 | VPS13B | c.9911G>C (p.Cys3304Ser) n.9981G>C c.*5593G>C (n.*5593G>C) c.9836G>C (p.Cys3279Ser) c.9908G>C (p.Cys3303Ser) c.9833G>C (p.Cys3278Ser) c.9533G>C (p.Cys3178Ser) c.6797G>C (p.Cys2266Ser) c.5690G>C (p.Cys1897Ser) c.9716G>C (p.Cys3239Ser) c.5468G>C (p.Cys1823Ser) c.8696G>C (p.Cys2899Ser) | |
8 | g.99835632G>T | CA371784224 | VPS13B | c.9911G>T (p.Cys3304Phe) n.9981G>T c.*5593G>T (n.*5593G>T) c.9836G>T (p.Cys3279Phe) c.9908G>T (p.Cys3303Phe) c.9833G>T (p.Cys3278Phe) c.9533G>T (p.Cys3178Phe) c.6797G>T (p.Cys2266Phe) c.5690G>T (p.Cys1897Phe) c.9716G>T (p.Cys3239Phe) c.5468G>T (p.Cys1823Phe) c.8696G>T (p.Cys2899Phe) | |
8 | g.99835632_99835634del | CA2781479884 | VPS13B | c.9911_9913del (p.Cys3304Ter) n.9981_9983del c.*5593_*5595del (n.*5593_*5595del) c.9836_9838del (p.Cys3279Ter) c.9908_9910del (p.Cys3303Ter) c.9833_9835del (p.Cys3278Ter) c.9533_9535del (p.Cys3178Ter) c.6797_6799del (p.Cys2266Ter) c.5690_5692del (p.Cys1897Ter) c.9716_9718del (p.Cys3239Ter) c.5468_5470del (p.Cys1823Ter) c.8696_8698del (p.Cys2899Ter) | |
8 | g.99835633C>A | CA371784234 | VPS13B | c.9912C>A (p.Cys3304Ter) n.9982C>A c.*5594C>A (n.*5594C>A) c.9837C>A (p.Cys3279Ter) c.9909C>A (p.Cys3303Ter) c.9834C>A (p.Cys3278Ter) c.9534C>A (p.Cys3178Ter) c.6798C>A (p.Cys2266Ter) c.5691C>A (p.Cys1897Ter) c.9717C>A (p.Cys3239Ter) c.5469C>A (p.Cys1823Ter) c.8697C>A (p.Cys2899Ter) | |
8 | g.99835633C>G | CA371784226 | VPS13B | c.9912C>G (p.Cys3304Trp) n.9982C>G c.*5594C>G (n.*5594C>G) c.9837C>G (p.Cys3279Trp) c.9909C>G (p.Cys3303Trp) c.9834C>G (p.Cys3278Trp) c.9534C>G (p.Cys3178Trp) c.6798C>G (p.Cys2266Trp) c.5691C>G (p.Cys1897Trp) c.9717C>G (p.Cys3239Trp) c.5469C>G (p.Cys1823Trp) c.8697C>G (p.Cys2899Trp) | |
8 | g.99835633C>T | CA462340843 | VPS13B | c.9912C>T (p.Cys3304=) n.9982C>T c.*5594C>T (n.*5594C>T) c.9837C>T (p.Cys3279=) c.9909C>T (p.Cys3303=) c.9834C>T (p.Cys3278=) c.9534C>T (p.Cys3178=) c.6798C>T (p.Cys2266=) c.5691C>T (p.Cys1897=) c.9717C>T (p.Cys3239=) c.5469C>T (p.Cys1823=) c.8697C>T (p.Cys2899=) | |
8 | g.99835634A>C | CA371784237 | VPS13B | c.9913A>C (p.Lys3305Gln) n.9983A>C c.*5595A>C (n.*5595A>C) c.9838A>C (p.Lys3280Gln) c.9910A>C (p.Lys3304Gln) c.9835A>C (p.Lys3279Gln) c.9535A>C (p.Lys3179Gln) c.6799A>C (p.Lys2267Gln) c.5692A>C (p.Lys1898Gln) c.9718A>C (p.Lys3240Gln) c.5470A>C (p.Lys1824Gln) c.8698A>C (p.Lys2900Gln) | |
8 | g.99835634A>G | CA371784240 | VPS13B | c.9913A>G (p.Lys3305Glu) n.9983A>G c.*5595A>G (n.*5595A>G) c.9838A>G (p.Lys3280Glu) c.9910A>G (p.Lys3304Glu) c.9835A>G (p.Lys3279Glu) c.9535A>G (p.Lys3179Glu) c.6799A>G (p.Lys2267Glu) c.5692A>G (p.Lys1898Glu) c.9718A>G (p.Lys3240Glu) c.5470A>G (p.Lys1824Glu) c.8698A>G (p.Lys2900Glu) | gnomAD v4 |
8 | g.99835634A>T | CA371784242 | VPS13B | c.9913A>T (p.Lys3305Ter) n.9983A>T c.*5595A>T (n.*5595A>T) c.9838A>T (p.Lys3280Ter) c.9910A>T (p.Lys3304Ter) c.9835A>T (p.Lys3279Ter) c.9535A>T (p.Lys3179Ter) c.6799A>T (p.Lys2267Ter) c.5692A>T (p.Lys1898Ter) c.9718A>T (p.Lys3240Ter) c.5470A>T (p.Lys1824Ter) c.8698A>T (p.Lys2900Ter) | |
8 | g.99835635A>C | CA371784246 | VPS13B | c.9914A>C (p.Lys3305Thr) n.9984A>C c.*5596A>C (n.*5596A>C) c.9839A>C (p.Lys3280Thr) c.9911A>C (p.Lys3304Thr) c.9836A>C (p.Lys3279Thr) c.9536A>C (p.Lys3179Thr) c.6800A>C (p.Lys2267Thr) c.5693A>C (p.Lys1898Thr) c.9719A>C (p.Lys3240Thr) c.5471A>C (p.Lys1824Thr) c.8699A>C (p.Lys2900Thr) | |
8 | g.99835635A>G | CA4824811 | VPS13B | c.9914A>G (p.Lys3305Arg) n.9984A>G c.*5596A>G (n.*5596A>G) c.9839A>G (p.Lys3280Arg) c.9911A>G (p.Lys3304Arg) c.9836A>G (p.Lys3279Arg) c.9536A>G (p.Lys3179Arg) c.6800A>G (p.Lys2267Arg) c.5693A>G (p.Lys1898Arg) c.9719A>G (p.Lys3240Arg) c.5471A>G (p.Lys1824Arg) c.8699A>G (p.Lys2900Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99835635A>T | CA371784256 | VPS13B | c.9914A>T (p.Lys3305Met) n.9984A>T c.*5596A>T (n.*5596A>T) c.9839A>T (p.Lys3280Met) c.9911A>T (p.Lys3304Met) c.9836A>T (p.Lys3279Met) c.9536A>T (p.Lys3179Met) c.6800A>T (p.Lys2267Met) c.5693A>T (p.Lys1898Met) c.9719A>T (p.Lys3240Met) c.5471A>T (p.Lys1824Met) c.8699A>T (p.Lys2900Met) | |
8 | g.99835636G>A | CA182339701 | VPS13B | c.9915G>A (p.Lys3305=) n.9985G>A c.*5597G>A (n.*5597G>A) c.9840G>A (p.Lys3280=) c.9912G>A (p.Lys3304=) c.9837G>A (p.Lys3279=) c.9537G>A (p.Lys3179=) c.6801G>A (p.Lys2267=) c.5694G>A (p.Lys1898=) c.9720G>A (p.Lys3240=) c.5472G>A (p.Lys1824=) c.8700G>A (p.Lys2900=) | dbSNP gnomAD v4 |
8 | g.99835636G>C | CA4824812 | VPS13B | c.9915G>C (p.Lys3305Asn) n.9985G>C c.*5597G>C (n.*5597G>C) c.9840G>C (p.Lys3280Asn) c.9912G>C (p.Lys3304Asn) c.9837G>C (p.Lys3279Asn) c.9537G>C (p.Lys3179Asn) c.6801G>C (p.Lys2267Asn) c.5694G>C (p.Lys1898Asn) c.9720G>C (p.Lys3240Asn) c.5472G>C (p.Lys1824Asn) c.8700G>C (p.Lys2900Asn) | dbSNP ExAC gnomAD v2 |
8 | g.99835636G>T | CA371784263 | VPS13B | c.9915G>T (p.Lys3305Asn) n.9985G>T c.*5597G>T (n.*5597G>T) c.9840G>T (p.Lys3280Asn) c.9912G>T (p.Lys3304Asn) c.9837G>T (p.Lys3279Asn) c.9537G>T (p.Lys3179Asn) c.6801G>T (p.Lys2267Asn) c.5694G>T (p.Lys1898Asn) c.9720G>T (p.Lys3240Asn) c.5472G>T (p.Lys1824Asn) c.8700G>T (p.Lys2900Asn) | |
8 | g.99835637A>C | CA371784270 | VPS13B | c.9916A>C (p.Thr3306Pro) n.9986A>C c.*5598A>C (n.*5598A>C) c.9841A>C (p.Thr3281Pro) c.9913A>C (p.Thr3305Pro) c.9838A>C (p.Thr3280Pro) c.9538A>C (p.Thr3180Pro) c.6802A>C (p.Thr2268Pro) c.5695A>C (p.Thr1899Pro) c.9721A>C (p.Thr3241Pro) c.5473A>C (p.Thr1825Pro) c.8701A>C (p.Thr2901Pro) | |
8 | g.99835637A>G | CA371784273 | VPS13B | c.9916A>G (p.Thr3306Ala) n.9986A>G c.*5598A>G (n.*5598A>G) c.9841A>G (p.Thr3281Ala) c.9913A>G (p.Thr3305Ala) c.9838A>G (p.Thr3280Ala) c.9538A>G (p.Thr3180Ala) c.6802A>G (p.Thr2268Ala) c.5695A>G (p.Thr1899Ala) c.9721A>G (p.Thr3241Ala) c.5473A>G (p.Thr1825Ala) c.8701A>G (p.Thr2901Ala) | |
8 | g.99835637A>T | CA371784279 | VPS13B | c.9916A>T (p.Thr3306Ser) n.9986A>T c.*5598A>T (n.*5598A>T) c.9841A>T (p.Thr3281Ser) c.9913A>T (p.Thr3305Ser) c.9838A>T (p.Thr3280Ser) c.9538A>T (p.Thr3180Ser) c.6802A>T (p.Thr2268Ser) c.5695A>T (p.Thr1899Ser) c.9721A>T (p.Thr3241Ser) c.5473A>T (p.Thr1825Ser) c.8701A>T (p.Thr2901Ser) | |
8 | g.99835638C>A | CA371784285 | VPS13B | c.9917C>A (p.Thr3306Asn) n.9987C>A c.*5599C>A (n.*5599C>A) c.9842C>A (p.Thr3281Asn) c.9914C>A (p.Thr3305Asn) c.9839C>A (p.Thr3280Asn) c.9539C>A (p.Thr3180Asn) c.6803C>A (p.Thr2268Asn) c.5696C>A (p.Thr1899Asn) c.9722C>A (p.Thr3241Asn) c.5474C>A (p.Thr1825Asn) c.8702C>A (p.Thr2901Asn) | |
8 | g.99835638C>G | CA371784286 | VPS13B | c.9917C>G (p.Thr3306Ser) n.9987C>G c.*5599C>G (n.*5599C>G) c.9842C>G (p.Thr3281Ser) c.9914C>G (p.Thr3305Ser) c.9839C>G (p.Thr3280Ser) c.9539C>G (p.Thr3180Ser) c.6803C>G (p.Thr2268Ser) c.5696C>G (p.Thr1899Ser) c.9722C>G (p.Thr3241Ser) c.5474C>G (p.Thr1825Ser) c.8702C>G (p.Thr2901Ser) | |
8 | g.99835638C>T | CA371784288 | VPS13B | c.9917C>T (p.Thr3306Ile) n.9987C>T c.*5599C>T (n.*5599C>T) c.9842C>T (p.Thr3281Ile) c.9914C>T (p.Thr3305Ile) c.9839C>T (p.Thr3280Ile) c.9539C>T (p.Thr3180Ile) c.6803C>T (p.Thr2268Ile) c.5696C>T (p.Thr1899Ile) c.9722C>T (p.Thr3241Ile) c.5474C>T (p.Thr1825Ile) c.8702C>T (p.Thr2901Ile) | |
8 | g.99835638_99835650del | CA2781479885 | VPS13B | c.9917_9929del (p.Thr3306IlefsTer6) n.9987_9999del c.*5599_*5611del (n.*5599_*5611del) c.9842_9854del (p.Thr3281IlefsTer6) c.9914_9926del (p.Thr3305IlefsTer6) c.9839_9851del (p.Thr3280IlefsTer6) c.9539_9551del (p.Thr3180IlefsTer6) c.6803_6815del (p.Thr2268IlefsTer6) c.5696_5708del (p.Thr1899IlefsTer6) c.9722_9734del (p.Thr3241IlefsTer6) c.5474_5486del (p.Thr1825IlefsTer6) c.8702_8714del (p.Thr2901IlefsTer6) | |
8 | g.99835639_99835658del | CA2573143608 | VPS13B | c.9918_9937del (p.Lys3307ThrfsTer5) n.9988_10007del c.*5600_*5619del (n.*5600_*5619del) c.9843_9862del (p.Lys3282ThrfsTer5) c.9915_9934del (p.Lys3306ThrfsTer5) c.9840_9859del (p.Lys3281ThrfsTer5) c.9540_9559del (p.Lys3181ThrfsTer5) c.6804_6823del (p.Lys2269ThrfsTer5) c.5697_5716del (p.Lys1900ThrfsTer5) c.9723_9742del (p.Lys3242ThrfsTer5) c.5475_5494del (p.Lys1826ThrfsTer5) c.8703_8722del (p.Lys2902ThrfsTer5) | ClinVar dbSNP |
8 | g.99835639C>A | CA462340852 | VPS13B | c.9918C>A (p.Thr3306=) n.9988C>A c.*5600C>A (n.*5600C>A) c.9843C>A (p.Thr3281=) c.9915C>A (p.Thr3305=) c.9840C>A (p.Thr3280=) c.9540C>A (p.Thr3180=) c.6804C>A (p.Thr2268=) c.5697C>A (p.Thr1899=) c.9723C>A (p.Thr3241=) c.5475C>A (p.Thr1825=) c.8703C>A (p.Thr2901=) | |
8 | g.99835639C>G | CA462340854 | VPS13B | c.9918C>G (p.Thr3306=) n.9988C>G c.*5600C>G (n.*5600C>G) c.9843C>G (p.Thr3281=) c.9915C>G (p.Thr3305=) c.9840C>G (p.Thr3280=) c.9540C>G (p.Thr3180=) c.6804C>G (p.Thr2268=) c.5697C>G (p.Thr1899=) c.9723C>G (p.Thr3241=) c.5475C>G (p.Thr1825=) c.8703C>G (p.Thr2901=) | |
8 | g.99835639C>T | CA462340856 | VPS13B | c.9918C>T (p.Thr3306=) n.9988C>T c.*5600C>T (n.*5600C>T) c.9843C>T (p.Thr3281=) c.9915C>T (p.Thr3305=) c.9840C>T (p.Thr3280=) c.9540C>T (p.Thr3180=) c.6804C>T (p.Thr2268=) c.5697C>T (p.Thr1899=) c.9723C>T (p.Thr3241=) c.5475C>T (p.Thr1825=) c.8703C>T (p.Thr2901=) | |
8 | g.99835640A>C | CA371784293 | VPS13B | c.9919A>C (p.Lys3307Gln) n.9989A>C c.*5601A>C (n.*5601A>C) c.9844A>C (p.Lys3282Gln) c.9916A>C (p.Lys3306Gln) c.9841A>C (p.Lys3281Gln) c.9541A>C (p.Lys3181Gln) c.6805A>C (p.Lys2269Gln) c.5698A>C (p.Lys1900Gln) c.9724A>C (p.Lys3242Gln) c.5476A>C (p.Lys1826Gln) c.8704A>C (p.Lys2902Gln) | |
8 | g.99835640A>G | CA182339709 | VPS13B | c.9919A>G (p.Lys3307Glu) n.9989A>G c.*5601A>G (n.*5601A>G) c.9844A>G (p.Lys3282Glu) c.9916A>G (p.Lys3306Glu) c.9841A>G (p.Lys3281Glu) c.9541A>G (p.Lys3181Glu) c.6805A>G (p.Lys2269Glu) c.5698A>G (p.Lys1900Glu) c.9724A>G (p.Lys3242Glu) c.5476A>G (p.Lys1826Glu) c.8704A>G (p.Lys2902Glu) | dbSNP gnomAD v4 |
8 | g.99835640A>T | CA371784290 | VPS13B | c.9919A>T (p.Lys3307Ter) n.9989A>T c.*5601A>T (n.*5601A>T) c.9844A>T (p.Lys3282Ter) c.9916A>T (p.Lys3306Ter) c.9841A>T (p.Lys3281Ter) c.9541A>T (p.Lys3181Ter) c.6805A>T (p.Lys2269Ter) c.5698A>T (p.Lys1900Ter) c.9724A>T (p.Lys3242Ter) c.5476A>T (p.Lys1826Ter) c.8704A>T (p.Lys2902Ter) | |
8 | g.99835641A>C | CA182339713 | VPS13B | c.9920A>C (p.Lys3307Thr) n.9990A>C c.*5602A>C (n.*5602A>C) c.9845A>C (p.Lys3282Thr) c.9917A>C (p.Lys3306Thr) c.9842A>C (p.Lys3281Thr) c.9542A>C (p.Lys3181Thr) c.6806A>C (p.Lys2269Thr) c.5699A>C (p.Lys1900Thr) c.9725A>C (p.Lys3242Thr) c.5477A>C (p.Lys1826Thr) c.8705A>C (p.Lys2902Thr) | dbSNP gnomAD v4 |
8 | g.99835641A>G | CA371784318 | VPS13B | c.9920A>G (p.Lys3307Arg) n.9990A>G c.*5602A>G (n.*5602A>G) c.9845A>G (p.Lys3282Arg) c.9917A>G (p.Lys3306Arg) c.9842A>G (p.Lys3281Arg) c.9542A>G (p.Lys3181Arg) c.6806A>G (p.Lys2269Arg) c.5699A>G (p.Lys1900Arg) c.9725A>G (p.Lys3242Arg) c.5477A>G (p.Lys1826Arg) c.8705A>G (p.Lys2902Arg) | |
8 | g.99835641A>T | CA371784325 | VPS13B | c.9920A>T (p.Lys3307Ile) n.9990A>T c.*5602A>T (n.*5602A>T) c.9845A>T (p.Lys3282Ile) c.9917A>T (p.Lys3306Ile) c.9842A>T (p.Lys3281Ile) c.9542A>T (p.Lys3181Ile) c.6806A>T (p.Lys2269Ile) c.5699A>T (p.Lys1900Ile) c.9725A>T (p.Lys3242Ile) c.5477A>T (p.Lys1826Ile) c.8705A>T (p.Lys2902Ile) | |
8 | g.99835642A>C | CA371784326 | VPS13B | c.9921A>C (p.Lys3307Asn) n.9991A>C c.*5603A>C (n.*5603A>C) c.9846A>C (p.Lys3282Asn) c.9918A>C (p.Lys3306Asn) c.9843A>C (p.Lys3281Asn) c.9543A>C (p.Lys3181Asn) c.6807A>C (p.Lys2269Asn) c.5700A>C (p.Lys1900Asn) c.9726A>C (p.Lys3242Asn) c.5478A>C (p.Lys1826Asn) c.8706A>C (p.Lys2902Asn) | |
8 | g.99835642A>G | CA462340862 | VPS13B | c.9921A>G (p.Lys3307=) n.9991A>G c.*5603A>G (n.*5603A>G) c.9846A>G (p.Lys3282=) c.9918A>G (p.Lys3306=) c.9843A>G (p.Lys3281=) c.9543A>G (p.Lys3181=) c.6807A>G (p.Lys2269=) c.5700A>G (p.Lys1900=) c.9726A>G (p.Lys3242=) c.5478A>G (p.Lys1826=) c.8706A>G (p.Lys2902=) | |
8 | g.99835642A>T | CA371784327 | VPS13B | c.9921A>T (p.Lys3307Asn) n.9991A>T c.*5603A>T (n.*5603A>T) c.9846A>T (p.Lys3282Asn) c.9918A>T (p.Lys3306Asn) c.9843A>T (p.Lys3281Asn) c.9543A>T (p.Lys3181Asn) c.6807A>T (p.Lys2269Asn) c.5700A>T (p.Lys1900Asn) c.9726A>T (p.Lys3242Asn) c.5478A>T (p.Lys1826Asn) c.8706A>T (p.Lys2902Asn) | |
8 | g.99835643G>A | CA371784330 | VPS13B | c.9922G>A (p.Asp3308Asn) n.9992G>A c.*5604G>A (n.*5604G>A) c.9847G>A (p.Asp3283Asn) c.9919G>A (p.Asp3307Asn) c.9844G>A (p.Asp3282Asn) c.9544G>A (p.Asp3182Asn) c.6808G>A (p.Asp2270Asn) c.5701G>A (p.Asp1901Asn) c.9727G>A (p.Asp3243Asn) c.5479G>A (p.Asp1827Asn) c.8707G>A (p.Asp2903Asn) | |
8 | g.99835643G>C | CA371784333 | VPS13B | c.9922G>C (p.Asp3308His) n.9992G>C c.*5604G>C (n.*5604G>C) c.9847G>C (p.Asp3283His) c.9919G>C (p.Asp3307His) c.9844G>C (p.Asp3282His) c.9544G>C (p.Asp3182His) c.6808G>C (p.Asp2270His) c.5701G>C (p.Asp1901His) c.9727G>C (p.Asp3243His) c.5479G>C (p.Asp1827His) c.8707G>C (p.Asp2903His) | |
8 | g.99835643G>T | CA371784334 | VPS13B | c.9922G>T (p.Asp3308Tyr) n.9992G>T c.*5604G>T (n.*5604G>T) c.9847G>T (p.Asp3283Tyr) c.9919G>T (p.Asp3307Tyr) c.9844G>T (p.Asp3282Tyr) c.9544G>T (p.Asp3182Tyr) c.6808G>T (p.Asp2270Tyr) c.5701G>T (p.Asp1901Tyr) c.9727G>T (p.Asp3243Tyr) c.5479G>T (p.Asp1827Tyr) c.8707G>T (p.Asp2903Tyr) | |
8 | g.99835644A>C | CA4824813 | VPS13B | c.9923A>C (p.Asp3308Ala) n.9993A>C c.*5605A>C (n.*5605A>C) c.9848A>C (p.Asp3283Ala) c.9920A>C (p.Asp3307Ala) c.9845A>C (p.Asp3282Ala) c.9545A>C (p.Asp3182Ala) c.6809A>C (p.Asp2270Ala) c.5702A>C (p.Asp1901Ala) c.9728A>C (p.Asp3243Ala) c.5480A>C (p.Asp1827Ala) c.8708A>C (p.Asp2903Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835644A>G | CA371784351 | VPS13B | c.9923A>G (p.Asp3308Gly) n.9993A>G c.*5605A>G (n.*5605A>G) c.9848A>G (p.Asp3283Gly) c.9920A>G (p.Asp3307Gly) c.9845A>G (p.Asp3282Gly) c.9545A>G (p.Asp3182Gly) c.6809A>G (p.Asp2270Gly) c.5702A>G (p.Asp1901Gly) c.9728A>G (p.Asp3243Gly) c.5480A>G (p.Asp1827Gly) c.8708A>G (p.Asp2903Gly) | |
8 | g.99835644A>T | CA371784355 | VPS13B | c.9923A>T (p.Asp3308Val) n.9993A>T c.*5605A>T (n.*5605A>T) c.9848A>T (p.Asp3283Val) c.9920A>T (p.Asp3307Val) c.9845A>T (p.Asp3282Val) c.9545A>T (p.Asp3182Val) c.6809A>T (p.Asp2270Val) c.5702A>T (p.Asp1901Val) c.9728A>T (p.Asp3243Val) c.5480A>T (p.Asp1827Val) c.8708A>T (p.Asp2903Val) | |
8 | g.99835645C>A | CA371784357 | VPS13B | c.9924C>A (p.Asp3308Glu) n.9994C>A c.*5606C>A (n.*5606C>A) c.9849C>A (p.Asp3283Glu) c.9921C>A (p.Asp3307Glu) c.9846C>A (p.Asp3282Glu) c.9546C>A (p.Asp3182Glu) c.6810C>A (p.Asp2270Glu) c.5703C>A (p.Asp1901Glu) c.9729C>A (p.Asp3243Glu) c.5481C>A (p.Asp1827Glu) c.8709C>A (p.Asp2903Glu) | |
8 | g.99835645C>G | CA371784358 | VPS13B | c.9924C>G (p.Asp3308Glu) n.9994C>G c.*5606C>G (n.*5606C>G) c.9849C>G (p.Asp3283Glu) c.9921C>G (p.Asp3307Glu) c.9846C>G (p.Asp3282Glu) c.9546C>G (p.Asp3182Glu) c.6810C>G (p.Asp2270Glu) c.5703C>G (p.Asp1901Glu) c.9729C>G (p.Asp3243Glu) c.5481C>G (p.Asp1827Glu) c.8709C>G (p.Asp2903Glu) | |
8 | g.99835645C>T | CA462340869 | VPS13B | c.9924C>T (p.Asp3308=) n.9994C>T c.*5606C>T (n.*5606C>T) c.9849C>T (p.Asp3283=) c.9921C>T (p.Asp3307=) c.9846C>T (p.Asp3282=) c.9546C>T (p.Asp3182=) c.6810C>T (p.Asp2270=) c.5703C>T (p.Asp1901=) c.9729C>T (p.Asp3243=) c.5481C>T (p.Asp1827=) c.8709C>T (p.Asp2903=) | dbSNP |
8 | g.99835646T>A | CA371784359 | VPS13B | c.9925T>A (p.Leu3309Ile) n.9995T>A c.*5607T>A (n.*5607T>A) c.9850T>A (p.Leu3284Ile) c.9922T>A (p.Leu3308Ile) c.9847T>A (p.Leu3283Ile) c.9547T>A (p.Leu3183Ile) c.6811T>A (p.Leu2271Ile) c.5704T>A (p.Leu1902Ile) c.9730T>A (p.Leu3244Ile) c.5482T>A (p.Leu1828Ile) c.8710T>A (p.Leu2904Ile) | |
8 | g.99835646T>C | CA462340872 | VPS13B | c.9925T>C (p.Leu3309=) n.9995T>C c.*5607T>C (n.*5607T>C) c.9850T>C (p.Leu3284=) c.9922T>C (p.Leu3308=) c.9847T>C (p.Leu3283=) c.9547T>C (p.Leu3183=) c.6811T>C (p.Leu2271=) c.5704T>C (p.Leu1902=) c.9730T>C (p.Leu3244=) c.5482T>C (p.Leu1828=) c.8710T>C (p.Leu2904=) | |
8 | g.99835646T>G | CA4824814 | VPS13B | c.9925T>G (p.Leu3309Val) n.9995T>G c.*5607T>G (n.*5607T>G) c.9850T>G (p.Leu3284Val) c.9922T>G (p.Leu3308Val) c.9847T>G (p.Leu3283Val) c.9547T>G (p.Leu3183Val) c.6811T>G (p.Leu2271Val) c.5704T>G (p.Leu1902Val) c.9730T>G (p.Leu3244Val) c.5482T>G (p.Leu1828Val) c.8710T>G (p.Leu2904Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99835647T>A | CA371784360 | VPS13B | c.9926T>A (p.Leu3309Ter) n.9996T>A c.*5608T>A (n.*5608T>A) c.9851T>A (p.Leu3284Ter) c.9923T>A (p.Leu3308Ter) c.9848T>A (p.Leu3283Ter) c.9548T>A (p.Leu3183Ter) c.6812T>A (p.Leu2271Ter) c.5705T>A (p.Leu1902Ter) c.9731T>A (p.Leu3244Ter) c.5483T>A (p.Leu1828Ter) c.8711T>A (p.Leu2904Ter) | |
8 | g.99835647T>C | CA371784361 | VPS13B | c.9926T>C (p.Leu3309Ser) n.9996T>C c.*5608T>C (n.*5608T>C) c.9851T>C (p.Leu3284Ser) c.9923T>C (p.Leu3308Ser) c.9848T>C (p.Leu3283Ser) c.9548T>C (p.Leu3183Ser) c.6812T>C (p.Leu2271Ser) c.5705T>C (p.Leu1902Ser) c.9731T>C (p.Leu3244Ser) c.5483T>C (p.Leu1828Ser) c.8711T>C (p.Leu2904Ser) | dbSNP |
8 | g.99835647T>G | CA371784362 | VPS13B | c.9926T>G (p.Leu3309Ter) n.9996T>G c.*5608T>G (n.*5608T>G) c.9851T>G (p.Leu3284Ter) c.9923T>G (p.Leu3308Ter) c.9848T>G (p.Leu3283Ter) c.9548T>G (p.Leu3183Ter) c.6812T>G (p.Leu2271Ter) c.5705T>G (p.Leu1902Ter) c.9731T>G (p.Leu3244Ter) c.5483T>G (p.Leu1828Ter) c.8711T>G (p.Leu2904Ter) | |
8 | g.99835648A>C | CA371784364 | VPS13B | c.9927A>C (p.Leu3309Phe) n.9997A>C c.*5609A>C (n.*5609A>C) c.9852A>C (p.Leu3284Phe) c.9924A>C (p.Leu3308Phe) c.9849A>C (p.Leu3283Phe) c.9549A>C (p.Leu3183Phe) c.6813A>C (p.Leu2271Phe) c.5706A>C (p.Leu1902Phe) c.9732A>C (p.Leu3244Phe) c.5484A>C (p.Leu1828Phe) c.8712A>C (p.Leu2904Phe) | |
8 | g.99835648A>G | CA462340877 | VPS13B | c.9927A>G (p.Leu3309=) n.9997A>G c.*5609A>G (n.*5609A>G) c.9852A>G (p.Leu3284=) c.9924A>G (p.Leu3308=) c.9849A>G (p.Leu3283=) c.9549A>G (p.Leu3183=) c.6813A>G (p.Leu2271=) c.5706A>G (p.Leu1902=) c.9732A>G (p.Leu3244=) c.5484A>G (p.Leu1828=) c.8712A>G (p.Leu2904=) | |
8 | g.99835648A>T | CA371784363 | VPS13B | c.9927A>T (p.Leu3309Phe) n.9997A>T c.*5609A>T (n.*5609A>T) c.9852A>T (p.Leu3284Phe) c.9924A>T (p.Leu3308Phe) c.9849A>T (p.Leu3283Phe) c.9549A>T (p.Leu3183Phe) c.6813A>T (p.Leu2271Phe) c.5706A>T (p.Leu1902Phe) c.9732A>T (p.Leu3244Phe) c.5484A>T (p.Leu1828Phe) c.8712A>T (p.Leu2904Phe) | |
8 | g.99835649C>A | CA371784366 | VPS13B | c.9928C>A (p.Leu3310Ile) n.9998C>A c.*5610C>A (n.*5610C>A) c.9853C>A (p.Leu3285Ile) c.9925C>A (p.Leu3309Ile) c.9850C>A (p.Leu3284Ile) c.9550C>A (p.Leu3184Ile) c.6814C>A (p.Leu2272Ile) c.5707C>A (p.Leu1903Ile) c.9733C>A (p.Leu3245Ile) c.5485C>A (p.Leu1829Ile) c.8713C>A (p.Leu2905Ile) | |
8 | g.99835649C>G | CA371784373 | VPS13B | c.9928C>G (p.Leu3310Val) n.9998C>G c.*5610C>G (n.*5610C>G) c.9853C>G (p.Leu3285Val) c.9925C>G (p.Leu3309Val) c.9850C>G (p.Leu3284Val) c.9550C>G (p.Leu3184Val) c.6814C>G (p.Leu2272Val) c.5707C>G (p.Leu1903Val) c.9733C>G (p.Leu3245Val) c.5485C>G (p.Leu1829Val) c.8713C>G (p.Leu2905Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99835649C>T | CA371784376 | VPS13B | c.9928C>T (p.Leu3310Phe) n.9998C>T c.*5610C>T (n.*5610C>T) c.9853C>T (p.Leu3285Phe) c.9925C>T (p.Leu3309Phe) c.9850C>T (p.Leu3284Phe) c.9550C>T (p.Leu3184Phe) c.6814C>T (p.Leu2272Phe) c.5707C>T (p.Leu1903Phe) c.9733C>T (p.Leu3245Phe) c.5485C>T (p.Leu1829Phe) c.8713C>T (p.Leu2905Phe) | |
8 | g.99835650T>A | CA371784384 | VPS13B | c.9929T>A (p.Leu3310His) n.9999T>A c.*5611T>A (n.*5611T>A) c.9854T>A (p.Leu3285His) c.9926T>A (p.Leu3309His) c.9851T>A (p.Leu3284His) c.9551T>A (p.Leu3184His) c.6815T>A (p.Leu2272His) c.5708T>A (p.Leu1903His) c.9734T>A (p.Leu3245His) c.5486T>A (p.Leu1829His) c.8714T>A (p.Leu2905His) | |
8 | g.99835650T>C | CA371784386 | VPS13B | c.9929T>C (p.Leu3310Pro) n.9999T>C c.*5611T>C (n.*5611T>C) c.9854T>C (p.Leu3285Pro) c.9926T>C (p.Leu3309Pro) c.9851T>C (p.Leu3284Pro) c.9551T>C (p.Leu3184Pro) c.6815T>C (p.Leu2272Pro) c.5708T>C (p.Leu1903Pro) c.9734T>C (p.Leu3245Pro) c.5486T>C (p.Leu1829Pro) c.8714T>C (p.Leu2905Pro) | gnomAD v4 |
8 | g.99835650T>G | CA371784388 | VPS13B | c.9929T>G (p.Leu3310Arg) n.9999T>G c.*5611T>G (n.*5611T>G) c.9854T>G (p.Leu3285Arg) c.9926T>G (p.Leu3309Arg) c.9851T>G (p.Leu3284Arg) c.9551T>G (p.Leu3184Arg) c.6815T>G (p.Leu2272Arg) c.5708T>G (p.Leu1903Arg) c.9734T>G (p.Leu3245Arg) c.5486T>G (p.Leu1829Arg) c.8714T>G (p.Leu2905Arg) | |
8 | g.99835651T>A | CA462340883 | VPS13B | c.9930T>A (p.Leu3310=) n.10000T>A c.*5612T>A (n.*5612T>A) c.9855T>A (p.Leu3285=) c.9927T>A (p.Leu3309=) c.9852T>A (p.Leu3284=) c.9552T>A (p.Leu3184=) c.6816T>A (p.Leu2272=) c.5709T>A (p.Leu1903=) c.9735T>A (p.Leu3245=) c.5487T>A (p.Leu1829=) c.8715T>A (p.Leu2905=) | |
8 | g.99835651T>C | CA462340884 | VPS13B | c.9930T>C (p.Leu3310=) n.10000T>C c.*5612T>C (n.*5612T>C) c.9855T>C (p.Leu3285=) c.9927T>C (p.Leu3309=) c.9852T>C (p.Leu3284=) c.9552T>C (p.Leu3184=) c.6816T>C (p.Leu2272=) c.5709T>C (p.Leu1903=) c.9735T>C (p.Leu3245=) c.5487T>C (p.Leu1829=) c.8715T>C (p.Leu2905=) | |
8 | g.99835651T>G | CA462340886 | VPS13B | c.9930T>G (p.Leu3310=) n.10000T>G c.*5612T>G (n.*5612T>G) c.9855T>G (p.Leu3285=) c.9927T>G (p.Leu3309=) c.9852T>G (p.Leu3284=) c.9552T>G (p.Leu3184=) c.6816T>G (p.Leu2272=) c.5709T>G (p.Leu1903=) c.9735T>G (p.Leu3245=) c.5487T>G (p.Leu1829=) c.8715T>G (p.Leu2905=) | |
8 | g.99835652C>A | CA371784396 | VPS13B | c.9931C>A (p.Pro3311Thr) n.10001C>A c.*5613C>A (n.*5613C>A) c.9856C>A (p.Pro3286Thr) c.9928C>A (p.Pro3310Thr) c.9853C>A (p.Pro3285Thr) c.9553C>A (p.Pro3185Thr) c.6817C>A (p.Pro2273Thr) c.5710C>A (p.Pro1904Thr) c.9736C>A (p.Pro3246Thr) c.5488C>A (p.Pro1830Thr) c.8716C>A (p.Pro2906Thr) | |
8 | g.99835652C>G | CA371784402 | VPS13B | c.9931C>G (p.Pro3311Ala) n.10001C>G c.*5613C>G (n.*5613C>G) c.9856C>G (p.Pro3286Ala) c.9928C>G (p.Pro3310Ala) c.9853C>G (p.Pro3285Ala) c.9553C>G (p.Pro3185Ala) c.6817C>G (p.Pro2273Ala) c.5710C>G (p.Pro1904Ala) c.9736C>G (p.Pro3246Ala) c.5488C>G (p.Pro1830Ala) c.8716C>G (p.Pro2906Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835652C>T | CA371784404 | VPS13B | c.9931C>T (p.Pro3311Ser) n.10001C>T c.*5613C>T (n.*5613C>T) c.9856C>T (p.Pro3286Ser) c.9928C>T (p.Pro3310Ser) c.9853C>T (p.Pro3285Ser) c.9553C>T (p.Pro3185Ser) c.6817C>T (p.Pro2273Ser) c.5710C>T (p.Pro1904Ser) c.9736C>T (p.Pro3246Ser) c.5488C>T (p.Pro1830Ser) c.8716C>T (p.Pro2906Ser) | gnomAD v4 |
8 | g.99835653C>A | CA371784410 | VPS13B | c.9932C>A (p.Pro3311Gln) n.10002C>A c.*5614C>A (n.*5614C>A) c.9857C>A (p.Pro3286Gln) c.9929C>A (p.Pro3310Gln) c.9854C>A (p.Pro3285Gln) c.9554C>A (p.Pro3185Gln) c.6818C>A (p.Pro2273Gln) c.5711C>A (p.Pro1904Gln) c.9737C>A (p.Pro3246Gln) c.5489C>A (p.Pro1830Gln) c.8717C>A (p.Pro2906Gln) | |
8 | g.99835653C>G | CA371784412 | VPS13B | c.9932C>G (p.Pro3311Arg) n.10002C>G c.*5614C>G (n.*5614C>G) c.9857C>G (p.Pro3286Arg) c.9929C>G (p.Pro3310Arg) c.9854C>G (p.Pro3285Arg) c.9554C>G (p.Pro3185Arg) c.6818C>G (p.Pro2273Arg) c.5711C>G (p.Pro1904Arg) c.9737C>G (p.Pro3246Arg) c.5489C>G (p.Pro1830Arg) c.8717C>G (p.Pro2906Arg) | |
8 | g.99835653C>T | CA371784416 | VPS13B | c.9932C>T (p.Pro3311Leu) n.10002C>T c.*5614C>T (n.*5614C>T) c.9857C>T (p.Pro3286Leu) c.9929C>T (p.Pro3310Leu) c.9854C>T (p.Pro3285Leu) c.9554C>T (p.Pro3185Leu) c.6818C>T (p.Pro2273Leu) c.5711C>T (p.Pro1904Leu) c.9737C>T (p.Pro3246Leu) c.5489C>T (p.Pro1830Leu) c.8717C>T (p.Pro2906Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99835654A>C | CA462340890 | VPS13B | c.9933A>C (p.Pro3311=) n.10003A>C c.*5615A>C (n.*5615A>C) c.9858A>C (p.Pro3286=) c.9930A>C (p.Pro3310=) c.9855A>C (p.Pro3285=) c.9555A>C (p.Pro3185=) c.6819A>C (p.Pro2273=) c.5712A>C (p.Pro1904=) c.9738A>C (p.Pro3246=) c.5490A>C (p.Pro1830=) c.8718A>C (p.Pro2906=) | |
8 | g.99835654A>G | CA462340891 | VPS13B | c.9933A>G (p.Pro3311=) n.10003A>G c.*5615A>G (n.*5615A>G) c.9858A>G (p.Pro3286=) c.9930A>G (p.Pro3310=) c.9855A>G (p.Pro3285=) c.9555A>G (p.Pro3185=) c.6819A>G (p.Pro2273=) c.5712A>G (p.Pro1904=) c.9738A>G (p.Pro3246=) c.5490A>G (p.Pro1830=) c.8718A>G (p.Pro2906=) | ClinVar dbSNP |
8 | g.99835654A>T | CA462340893 | VPS13B | c.9933A>T (p.Pro3311=) n.10003A>T c.*5615A>T (n.*5615A>T) c.9858A>T (p.Pro3286=) c.9930A>T (p.Pro3310=) c.9855A>T (p.Pro3285=) c.9555A>T (p.Pro3185=) c.6819A>T (p.Pro2273=) c.5712A>T (p.Pro1904=) c.9738A>T (p.Pro3246=) c.5490A>T (p.Pro1830=) c.8718A>T (p.Pro2906=) | |
8 | g.99835655A>C | CA371784421 | VPS13B | c.9934A>C (p.Ser3312Arg) n.10004A>C c.*5616A>C (n.*5616A>C) c.9859A>C (p.Ser3287Arg) c.9931A>C (p.Ser3311Arg) c.9856A>C (p.Ser3286Arg) c.9556A>C (p.Ser3186Arg) c.6820A>C (p.Ser2274Arg) c.5713A>C (p.Ser1905Arg) c.9739A>C (p.Ser3247Arg) c.5491A>C (p.Ser1831Arg) c.8719A>C (p.Ser2907Arg) | |
8 | g.99835655A>G | CA371784420 | VPS13B | c.9934A>G (p.Ser3312Gly) n.10004A>G c.*5616A>G (n.*5616A>G) c.9859A>G (p.Ser3287Gly) c.9931A>G (p.Ser3311Gly) c.9856A>G (p.Ser3286Gly) c.9556A>G (p.Ser3186Gly) c.6820A>G (p.Ser2274Gly) c.5713A>G (p.Ser1905Gly) c.9739A>G (p.Ser3247Gly) c.5491A>G (p.Ser1831Gly) c.8719A>G (p.Ser2907Gly) | |
8 | g.99835655A>T | CA371784418 | VPS13B | c.9934A>T (p.Ser3312Cys) n.10004A>T c.*5616A>T (n.*5616A>T) c.9859A>T (p.Ser3287Cys) c.9931A>T (p.Ser3311Cys) c.9856A>T (p.Ser3286Cys) c.9556A>T (p.Ser3186Cys) c.6820A>T (p.Ser2274Cys) c.5713A>T (p.Ser1905Cys) c.9739A>T (p.Ser3247Cys) c.5491A>T (p.Ser1831Cys) c.8719A>T (p.Ser2907Cys) | |
8 | g.99835656G>A | CA371784424 | VPS13B | c.9935G>A (p.Ser3312Asn) n.10005G>A c.*5617G>A (n.*5617G>A) c.9860G>A (p.Ser3287Asn) c.9932G>A (p.Ser3311Asn) c.9857G>A (p.Ser3286Asn) c.9557G>A (p.Ser3186Asn) c.6821G>A (p.Ser2274Asn) c.5714G>A (p.Ser1905Asn) c.9740G>A (p.Ser3247Asn) c.5492G>A (p.Ser1831Asn) c.8720G>A (p.Ser2907Asn) | ClinVar |
8 | g.99835656G>C | CA371784426 | VPS13B | c.9935G>C (p.Ser3312Thr) n.10005G>C c.*5617G>C (n.*5617G>C) c.9860G>C (p.Ser3287Thr) c.9932G>C (p.Ser3311Thr) c.9857G>C (p.Ser3286Thr) c.9557G>C (p.Ser3186Thr) c.6821G>C (p.Ser2274Thr) c.5714G>C (p.Ser1905Thr) c.9740G>C (p.Ser3247Thr) c.5492G>C (p.Ser1831Thr) c.8720G>C (p.Ser2907Thr) | |
8 | g.99835656G>T | CA371784428 | VPS13B | c.9935G>T (p.Ser3312Ile) n.10005G>T c.*5617G>T (n.*5617G>T) c.9860G>T (p.Ser3287Ile) c.9932G>T (p.Ser3311Ile) c.9857G>T (p.Ser3286Ile) c.9557G>T (p.Ser3186Ile) c.6821G>T (p.Ser2274Ile) c.5714G>T (p.Ser1905Ile) c.9740G>T (p.Ser3247Ile) c.5492G>T (p.Ser1831Ile) c.8720G>T (p.Ser2907Ile) | |
8 | g.99835656_99835657insATGGG | CA2781479886 | VPS13B | c.9935_9936insATGGG (p.Ser3312ArgfsTer6) n.10005_10006insATGGG c.*5617_*5618insATGGG (n.*5617_*5618insATGGG) c.9860_9861insATGGG (p.Ser3287ArgfsTer6) c.9932_9933insATGGG (p.Ser3311ArgfsTer6) c.9857_9858insATGGG (p.Ser3286ArgfsTer6) c.9557_9558insATGGG (p.Ser3186ArgfsTer6) c.6821_6822insATGGG (p.Ser2274ArgfsTer6) c.5714_5715insATGGG (p.Ser1905ArgfsTer6) c.9740_9741insATGGG (p.Ser3247ArgfsTer6) c.5492_5493insATGGG (p.Ser1831ArgfsTer6) c.8720_8721insATGGG (p.Ser2907ArgfsTer6) | |
8 | g.99835657C>A | CA371784429 | VPS13B | c.9936C>A (p.Ser3312Arg) n.10006C>A c.*5618C>A (n.*5618C>A) c.9861C>A (p.Ser3287Arg) c.9933C>A (p.Ser3311Arg) c.9858C>A (p.Ser3286Arg) c.9558C>A (p.Ser3186Arg) c.6822C>A (p.Ser2274Arg) c.5715C>A (p.Ser1905Arg) c.9741C>A (p.Ser3247Arg) c.5493C>A (p.Ser1831Arg) c.8721C>A (p.Ser2907Arg) | dbSNP |
8 | g.99835657C>G | CA371784432 | VPS13B | c.9936C>G (p.Ser3312Arg) n.10006C>G c.*5618C>G (n.*5618C>G) c.9861C>G (p.Ser3287Arg) c.9933C>G (p.Ser3311Arg) c.9858C>G (p.Ser3286Arg) c.9558C>G (p.Ser3186Arg) c.6822C>G (p.Ser2274Arg) c.5715C>G (p.Ser1905Arg) c.9741C>G (p.Ser3247Arg) c.5493C>G (p.Ser1831Arg) c.8721C>G (p.Ser2907Arg) | |
8 | g.99835657C>T | CA462340899 | VPS13B | c.9936C>T (p.Ser3312=) n.10006C>T c.*5618C>T (n.*5618C>T) c.9861C>T (p.Ser3287=) c.9933C>T (p.Ser3311=) c.9858C>T (p.Ser3286=) c.9558C>T (p.Ser3186=) c.6822C>T (p.Ser2274=) c.5715C>T (p.Ser1905=) c.9741C>T (p.Ser3247=) c.5493C>T (p.Ser1831=) c.8721C>T (p.Ser2907=) | |
8 | g.99835658C>A | CA371784439 | VPS13B | c.9937C>A (p.Leu3313Ile) n.10007C>A c.*5619C>A (n.*5619C>A) c.9862C>A (p.Leu3288Ile) c.9934C>A (p.Leu3312Ile) c.9859C>A (p.Leu3287Ile) c.9559C>A (p.Leu3187Ile) c.6823C>A (p.Leu2275Ile) c.5716C>A (p.Leu1906Ile) c.9742C>A (p.Leu3248Ile) c.5494C>A (p.Leu1832Ile) c.8722C>A (p.Leu2908Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99835658C>G | CA371784436 | VPS13B | c.9937C>G (p.Leu3313Val) n.10007C>G c.*5619C>G (n.*5619C>G) c.9862C>G (p.Leu3288Val) c.9934C>G (p.Leu3312Val) c.9859C>G (p.Leu3287Val) c.9559C>G (p.Leu3187Val) c.6823C>G (p.Leu2275Val) c.5716C>G (p.Leu1906Val) c.9742C>G (p.Leu3248Val) c.5494C>G (p.Leu1832Val) c.8722C>G (p.Leu2908Val) | |
8 | g.99835658C>T | CA4824815 | VPS13B | c.9937C>T (p.Leu3313=) n.10007C>T c.*5619C>T (n.*5619C>T) c.9862C>T (p.Leu3288=) c.9934C>T (p.Leu3312=) c.9859C>T (p.Leu3287=) c.9559C>T (p.Leu3187=) c.6823C>T (p.Leu2275=) c.5716C>T (p.Leu1906=) c.9742C>T (p.Leu3248=) c.5494C>T (p.Leu1832=) c.8722C>T (p.Leu2908=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835659T>A | CA371784443 | VPS13B | c.9938T>A (p.Leu3313Gln) n.10008T>A c.*5620T>A (n.*5620T>A) c.9863T>A (p.Leu3288Gln) c.9935T>A (p.Leu3312Gln) c.9860T>A (p.Leu3287Gln) c.9560T>A (p.Leu3187Gln) c.6824T>A (p.Leu2275Gln) c.5717T>A (p.Leu1906Gln) c.9743T>A (p.Leu3248Gln) c.5495T>A (p.Leu1832Gln) c.8723T>A (p.Leu2908Gln) | |
8 | g.99835659T>C | CA371784446 | VPS13B | c.9938T>C (p.Leu3313Pro) n.10008T>C c.*5620T>C (n.*5620T>C) c.9863T>C (p.Leu3288Pro) c.9935T>C (p.Leu3312Pro) c.9860T>C (p.Leu3287Pro) c.9560T>C (p.Leu3187Pro) c.6824T>C (p.Leu2275Pro) c.5717T>C (p.Leu1906Pro) c.9743T>C (p.Leu3248Pro) c.5495T>C (p.Leu1832Pro) c.8723T>C (p.Leu2908Pro) | |
8 | g.99835659T>G | CA371784448 | VPS13B | c.9938T>G (p.Leu3313Arg) n.10008T>G c.*5620T>G (n.*5620T>G) c.9863T>G (p.Leu3288Arg) c.9935T>G (p.Leu3312Arg) c.9860T>G (p.Leu3287Arg) c.9560T>G (p.Leu3187Arg) c.6824T>G (p.Leu2275Arg) c.5717T>G (p.Leu1906Arg) c.9743T>G (p.Leu3248Arg) c.5495T>G (p.Leu1832Arg) c.8723T>G (p.Leu2908Arg) | |
8 | g.99835660A>C | CA462340905 | VPS13B | c.9939A>C (p.Leu3313=) n.10009A>C c.*5621A>C (n.*5621A>C) c.9864A>C (p.Leu3288=) c.9936A>C (p.Leu3312=) c.9861A>C (p.Leu3287=) c.9561A>C (p.Leu3187=) c.6825A>C (p.Leu2275=) c.5718A>C (p.Leu1906=) c.9744A>C (p.Leu3248=) c.5496A>C (p.Leu1832=) c.8724A>C (p.Leu2908=) | |
8 | g.99835660A>G | CA462340906 | VPS13B | c.9939A>G (p.Leu3313=) n.10009A>G c.*5621A>G (n.*5621A>G) c.9864A>G (p.Leu3288=) c.9936A>G (p.Leu3312=) c.9861A>G (p.Leu3287=) c.9561A>G (p.Leu3187=) c.6825A>G (p.Leu2275=) c.5718A>G (p.Leu1906=) c.9744A>G (p.Leu3248=) c.5496A>G (p.Leu1832=) c.8724A>G (p.Leu2908=) | gnomAD v4 |
8 | g.99835660A>T | CA462340908 | VPS13B | c.9939A>T (p.Leu3313=) n.10009A>T c.*5621A>T (n.*5621A>T) c.9864A>T (p.Leu3288=) c.9936A>T (p.Leu3312=) c.9861A>T (p.Leu3287=) c.9561A>T (p.Leu3187=) c.6825A>T (p.Leu2275=) c.5718A>T (p.Leu1906=) c.9744A>T (p.Leu3248=) c.5496A>T (p.Leu1832=) c.8724A>T (p.Leu2908=) | |
8 | g.99835661C>A | CA371784451 | VPS13B | c.9940C>A (p.Leu3314Ile) n.10010C>A c.*5622C>A (n.*5622C>A) c.9865C>A (p.Leu3289Ile) c.9937C>A (p.Leu3313Ile) c.9862C>A (p.Leu3288Ile) c.9562C>A (p.Leu3188Ile) c.6826C>A (p.Leu2276Ile) c.5719C>A (p.Leu1907Ile) c.9745C>A (p.Leu3249Ile) c.5497C>A (p.Leu1833Ile) c.8725C>A (p.Leu2909Ile) | |
8 | g.99835661C>G | CA371784460 | VPS13B | c.9940C>G (p.Leu3314Val) n.10010C>G c.*5622C>G (n.*5622C>G) c.9865C>G (p.Leu3289Val) c.9937C>G (p.Leu3313Val) c.9862C>G (p.Leu3288Val) c.9562C>G (p.Leu3188Val) c.6826C>G (p.Leu2276Val) c.5719C>G (p.Leu1907Val) c.9745C>G (p.Leu3249Val) c.5497C>G (p.Leu1833Val) c.8725C>G (p.Leu2909Val) | |
8 | g.99835661C>T | CA371784462 | VPS13B | c.9940C>T (p.Leu3314Phe) n.10010C>T c.*5622C>T (n.*5622C>T) c.9865C>T (p.Leu3289Phe) c.9937C>T (p.Leu3313Phe) c.9862C>T (p.Leu3288Phe) c.9562C>T (p.Leu3188Phe) c.6826C>T (p.Leu2276Phe) c.5719C>T (p.Leu1907Phe) c.9745C>T (p.Leu3249Phe) c.5497C>T (p.Leu1833Phe) c.8725C>T (p.Leu2909Phe) | |
8 | g.99835662T>A | CA371784467 | VPS13B | c.9941T>A (p.Leu3314His) n.10011T>A c.*5623T>A (n.*5623T>A) c.9866T>A (p.Leu3289His) c.9938T>A (p.Leu3313His) c.9863T>A (p.Leu3288His) c.9563T>A (p.Leu3188His) c.6827T>A (p.Leu2276His) c.5720T>A (p.Leu1907His) c.9746T>A (p.Leu3249His) c.5498T>A (p.Leu1833His) c.8726T>A (p.Leu2909His) | |
8 | g.99835662T>C | CA371784475 | VPS13B | c.9941T>C (p.Leu3314Pro) n.10011T>C c.*5623T>C (n.*5623T>C) c.9866T>C (p.Leu3289Pro) c.9938T>C (p.Leu3313Pro) c.9863T>C (p.Leu3288Pro) c.9563T>C (p.Leu3188Pro) c.6827T>C (p.Leu2276Pro) c.5720T>C (p.Leu1907Pro) c.9746T>C (p.Leu3249Pro) c.5498T>C (p.Leu1833Pro) c.8726T>C (p.Leu2909Pro) | |
8 | g.99835662T>G | CA371784468 | VPS13B | c.9941T>G (p.Leu3314Arg) n.10011T>G c.*5623T>G (n.*5623T>G) c.9866T>G (p.Leu3289Arg) c.9938T>G (p.Leu3313Arg) c.9863T>G (p.Leu3288Arg) c.9563T>G (p.Leu3188Arg) c.6827T>G (p.Leu2276Arg) c.5720T>G (p.Leu1907Arg) c.9746T>G (p.Leu3249Arg) c.5498T>G (p.Leu1833Arg) c.8726T>G (p.Leu2909Arg) | |
8 | g.99835663T>A | CA462340914 | VPS13B | c.9942T>A (p.Leu3314=) n.10012T>A c.*5624T>A (n.*5624T>A) c.9867T>A (p.Leu3289=) c.9939T>A (p.Leu3313=) c.9864T>A (p.Leu3288=) c.9564T>A (p.Leu3188=) c.6828T>A (p.Leu2276=) c.5721T>A (p.Leu1907=) c.9747T>A (p.Leu3249=) c.5499T>A (p.Leu1833=) c.8727T>A (p.Leu2909=) | |
8 | g.99835663T>C | CA462340915 | VPS13B | c.9942T>C (p.Leu3314=) n.10012T>C c.*5624T>C (n.*5624T>C) c.9867T>C (p.Leu3289=) c.9939T>C (p.Leu3313=) c.9864T>C (p.Leu3288=) c.9564T>C (p.Leu3188=) c.6828T>C (p.Leu2276=) c.5721T>C (p.Leu1907=) c.9747T>C (p.Leu3249=) c.5499T>C (p.Leu1833=) c.8727T>C (p.Leu2909=) | |
8 | g.99835663T>G | CA462340916 | VPS13B | c.9942T>G (p.Leu3314=) n.10012T>G c.*5624T>G (n.*5624T>G) c.9867T>G (p.Leu3289=) c.9939T>G (p.Leu3313=) c.9864T>G (p.Leu3288=) c.9564T>G (p.Leu3188=) c.6828T>G (p.Leu2276=) c.5721T>G (p.Leu1907=) c.9747T>G (p.Leu3249=) c.5499T>G (p.Leu1833=) c.8727T>G (p.Leu2909=) | |
8 | g.99835664T>A | CA371784478 | VPS13B | c.9943T>A (p.Leu3315Met) n.10013T>A c.*5625T>A (n.*5625T>A) c.9868T>A (p.Leu3290Met) c.9940T>A (p.Leu3314Met) c.9865T>A (p.Leu3289Met) c.9565T>A (p.Leu3189Met) c.6829T>A (p.Leu2277Met) c.5722T>A (p.Leu1908Met) c.9748T>A (p.Leu3250Met) c.5500T>A (p.Leu1834Met) c.8728T>A (p.Leu2910Met) | dbSNP gnomAD v2 |
8 | g.99835664T>C | CA462340919 | VPS13B | c.9943T>C (p.Leu3315=) n.10013T>C c.*5625T>C (n.*5625T>C) c.9868T>C (p.Leu3290=) c.9940T>C (p.Leu3314=) c.9865T>C (p.Leu3289=) c.9565T>C (p.Leu3189=) c.6829T>C (p.Leu2277=) c.5722T>C (p.Leu1908=) c.9748T>C (p.Leu3250=) c.5500T>C (p.Leu1834=) c.8728T>C (p.Leu2910=) | ClinVar dbSNP gnomAD v4 |
8 | g.99835664T>G | CA371784479 | VPS13B | c.9943T>G (p.Leu3315Val) n.10013T>G c.*5625T>G (n.*5625T>G) c.9868T>G (p.Leu3290Val) c.9940T>G (p.Leu3314Val) c.9865T>G (p.Leu3289Val) c.9565T>G (p.Leu3189Val) c.6829T>G (p.Leu2277Val) c.5722T>G (p.Leu1908Val) c.9748T>G (p.Leu3250Val) c.5500T>G (p.Leu1834Val) c.8728T>G (p.Leu2910Val) | |
8 | g.99835665T>A | CA371784480 | VPS13B | c.9944T>A (p.Leu3315Ter) n.10014T>A c.*5626T>A (n.*5626T>A) c.9869T>A (p.Leu3290Ter) c.9941T>A (p.Leu3314Ter) c.9866T>A (p.Leu3289Ter) c.9566T>A (p.Leu3189Ter) c.6830T>A (p.Leu2277Ter) c.5723T>A (p.Leu1908Ter) c.9749T>A (p.Leu3250Ter) c.5501T>A (p.Leu1834Ter) c.8729T>A (p.Leu2910Ter) | |
8 | g.99835665T>C | CA371784481 | VPS13B | c.9944T>C (p.Leu3315Ser) n.10014T>C c.*5626T>C (n.*5626T>C) c.9869T>C (p.Leu3290Ser) c.9941T>C (p.Leu3314Ser) c.9866T>C (p.Leu3289Ser) c.9566T>C (p.Leu3189Ser) c.6830T>C (p.Leu2277Ser) c.5723T>C (p.Leu1908Ser) c.9749T>C (p.Leu3250Ser) c.5501T>C (p.Leu1834Ser) c.8729T>C (p.Leu2910Ser) | |
8 | g.99835665T>G | CA371784482 | VPS13B | c.9944T>G (p.Leu3315Trp) n.10014T>G c.*5626T>G (n.*5626T>G) c.9869T>G (p.Leu3290Trp) c.9941T>G (p.Leu3314Trp) c.9866T>G (p.Leu3289Trp) c.9566T>G (p.Leu3189Trp) c.6830T>G (p.Leu2277Trp) c.5723T>G (p.Leu1908Trp) c.9749T>G (p.Leu3250Trp) c.5501T>G (p.Leu1834Trp) c.8729T>G (p.Leu2910Trp) | |
8 | g.99835666G>A | CA462340924 | VPS13B | c.9945G>A (p.Leu3315=) n.10015G>A c.*5627G>A (n.*5627G>A) c.9870G>A (p.Leu3290=) c.9942G>A (p.Leu3314=) c.9867G>A (p.Leu3289=) c.9567G>A (p.Leu3189=) c.6831G>A (p.Leu2277=) c.5724G>A (p.Leu1908=) c.9750G>A (p.Leu3250=) c.5502G>A (p.Leu1834=) c.8730G>A (p.Leu2910=) | |
8 | g.99835666G>C | CA371784483 | VPS13B | c.9945G>C (p.Leu3315Phe) n.10015G>C c.*5627G>C (n.*5627G>C) c.9870G>C (p.Leu3290Phe) c.9942G>C (p.Leu3314Phe) c.9867G>C (p.Leu3289Phe) c.9567G>C (p.Leu3189Phe) c.6831G>C (p.Leu2277Phe) c.5724G>C (p.Leu1908Phe) c.9750G>C (p.Leu3250Phe) c.5502G>C (p.Leu1834Phe) c.8730G>C (p.Leu2910Phe) | COSMIC COSMIC |
8 | g.99835666G>T | CA371784485 | VPS13B | c.9945G>T (p.Leu3315Phe) n.10015G>T c.*5627G>T (n.*5627G>T) c.9870G>T (p.Leu3290Phe) c.9942G>T (p.Leu3314Phe) c.9867G>T (p.Leu3289Phe) c.9567G>T (p.Leu3189Phe) c.6831G>T (p.Leu2277Phe) c.5724G>T (p.Leu1908Phe) c.9750G>T (p.Leu3250Phe) c.5502G>T (p.Leu1834Phe) c.8730G>T (p.Leu2910Phe) | |
8 | g.99835669_99835670dup | CA2688071172 | VPS13B | c.9948_9949dup (p.Val3317GlufsTer5) n.10018_10019dup c.*5630_*5631dup (n.*5630_*5631dup) c.9873_9874dup (p.Val3292GlufsTer5) c.9945_9946dup (p.Val3316GlufsTer5) c.9870_9871dup (p.Val3291GlufsTer5) c.9570_9571dup (p.Val3191GlufsTer5) c.6834_6835dup (p.Val2279GlufsTer5) c.5727_5728dup (p.Val1910GlufsTer5) c.9753_9754dup (p.Val3252GlufsTer5) c.5505_5506dup (p.Val1836GlufsTer5) c.8733_8734dup (p.Val2912GlufsTer5) | gnomAD v4 |
8 | g.99835667A>C | CA462340926 | VPS13B | c.9946A>C (p.Arg3316=) n.10016A>C c.*5628A>C (n.*5628A>C) c.9871A>C (p.Arg3291=) c.9943A>C (p.Arg3315=) c.9868A>C (p.Arg3290=) c.9568A>C (p.Arg3190=) c.6832A>C (p.Arg2278=) c.5725A>C (p.Arg1909=) c.9751A>C (p.Arg3251=) c.5503A>C (p.Arg1835=) c.8731A>C (p.Arg2911=) | |
8 | g.99835667A>G | CA371784486 | VPS13B | c.9946A>G (p.Arg3316Gly) n.10016A>G c.*5628A>G (n.*5628A>G) c.9871A>G (p.Arg3291Gly) c.9943A>G (p.Arg3315Gly) c.9868A>G (p.Arg3290Gly) c.9568A>G (p.Arg3190Gly) c.6832A>G (p.Arg2278Gly) c.5725A>G (p.Arg1909Gly) c.9751A>G (p.Arg3251Gly) c.5503A>G (p.Arg1835Gly) c.8731A>G (p.Arg2911Gly) | |
8 | g.99835667A>T | CA371784488 | VPS13B | c.9946A>T (p.Arg3316Ter) n.10016A>T c.*5628A>T (n.*5628A>T) c.9871A>T (p.Arg3291Ter) c.9943A>T (p.Arg3315Ter) c.9868A>T (p.Arg3290Ter) c.9568A>T (p.Arg3190Ter) c.6832A>T (p.Arg2278Ter) c.5725A>T (p.Arg1909Ter) c.9751A>T (p.Arg3251Ter) c.5503A>T (p.Arg1835Ter) c.8731A>T (p.Arg2911Ter) | |
8 | g.99835668G>A | CA371784491 | VPS13B | c.9947G>A (p.Arg3316Lys) n.10017G>A c.*5629G>A (n.*5629G>A) c.9872G>A (p.Arg3291Lys) c.9944G>A (p.Arg3315Lys) c.9869G>A (p.Arg3290Lys) c.9569G>A (p.Arg3190Lys) c.6833G>A (p.Arg2278Lys) c.5726G>A (p.Arg1909Lys) c.9752G>A (p.Arg3251Lys) c.5504G>A (p.Arg1835Lys) c.8732G>A (p.Arg2911Lys) | |
8 | g.99835668G>C | CA371784505 | VPS13B | c.9947G>C (p.Arg3316Thr) n.10017G>C c.*5629G>C (n.*5629G>C) c.9872G>C (p.Arg3291Thr) c.9944G>C (p.Arg3315Thr) c.9869G>C (p.Arg3290Thr) c.9569G>C (p.Arg3190Thr) c.6833G>C (p.Arg2278Thr) c.5726G>C (p.Arg1909Thr) c.9752G>C (p.Arg3251Thr) c.5504G>C (p.Arg1835Thr) c.8732G>C (p.Arg2911Thr) | |
8 | g.99835668G>T | CA371784510 | VPS13B | c.9947G>T (p.Arg3316Ile) n.10017G>T c.*5629G>T (n.*5629G>T) c.9872G>T (p.Arg3291Ile) c.9944G>T (p.Arg3315Ile) c.9869G>T (p.Arg3290Ile) c.9569G>T (p.Arg3190Ile) c.6833G>T (p.Arg2278Ile) c.5726G>T (p.Arg1909Ile) c.9752G>T (p.Arg3251Ile) c.5504G>T (p.Arg1835Ile) c.8732G>T (p.Arg2911Ile) | |
8 | g.99835669A>C | CA371784514 | VPS13B | c.9948A>C (p.Arg3316Ser) n.10018A>C c.*5630A>C (n.*5630A>C) c.9873A>C (p.Arg3291Ser) c.9945A>C (p.Arg3315Ser) c.9870A>C (p.Arg3290Ser) c.9570A>C (p.Arg3190Ser) c.6834A>C (p.Arg2278Ser) c.5727A>C (p.Arg1909Ser) c.9753A>C (p.Arg3251Ser) c.5505A>C (p.Arg1835Ser) c.8733A>C (p.Arg2911Ser) | |
8 | g.99835669A>G | CA462340931 | VPS13B | c.9948A>G (p.Arg3316=) n.10018A>G c.*5630A>G (n.*5630A>G) c.9873A>G (p.Arg3291=) c.9945A>G (p.Arg3315=) c.9870A>G (p.Arg3290=) c.9570A>G (p.Arg3190=) c.6834A>G (p.Arg2278=) c.5727A>G (p.Arg1909=) c.9753A>G (p.Arg3251=) c.5505A>G (p.Arg1835=) c.8733A>G (p.Arg2911=) | |
8 | g.99835669A>T | CA371784524 | VPS13B | c.9948A>T (p.Arg3316Ser) n.10018A>T c.*5630A>T (n.*5630A>T) c.9873A>T (p.Arg3291Ser) c.9945A>T (p.Arg3315Ser) c.9870A>T (p.Arg3290Ser) c.9570A>T (p.Arg3190Ser) c.6834A>T (p.Arg2278Ser) c.5727A>T (p.Arg1909Ser) c.9753A>T (p.Arg3251Ser) c.5505A>T (p.Arg1835Ser) c.8733A>T (p.Arg2911Ser) | |
8 | g.99835670G>A | CA371784527 | VPS13B | c.9949G>A (p.Val3317Ile) n.10019G>A c.*5631G>A (n.*5631G>A) c.9874G>A (p.Val3292Ile) c.9946G>A (p.Val3316Ile) c.9871G>A (p.Val3291Ile) c.9571G>A (p.Val3191Ile) c.6835G>A (p.Val2279Ile) c.5728G>A (p.Val1910Ile) c.9754G>A (p.Val3252Ile) c.5506G>A (p.Val1836Ile) c.8734G>A (p.Val2912Ile) | |
8 | g.99835670G>C | CA4824816 | VPS13B | c.9949G>C (p.Val3317Leu) n.10019G>C c.*5631G>C (n.*5631G>C) c.9874G>C (p.Val3292Leu) c.9946G>C (p.Val3316Leu) c.9871G>C (p.Val3291Leu) c.9571G>C (p.Val3191Leu) c.6835G>C (p.Val2279Leu) c.5728G>C (p.Val1910Leu) c.9754G>C (p.Val3252Leu) c.5506G>C (p.Val1836Leu) c.8734G>C (p.Val2912Leu) | dbSNP ExAC gnomAD v2 |
8 | g.99835670G>T | CA371784530 | VPS13B | c.9949G>T (p.Val3317Phe) n.10019G>T c.*5631G>T (n.*5631G>T) c.9874G>T (p.Val3292Phe) c.9946G>T (p.Val3316Phe) c.9871G>T (p.Val3291Phe) c.9571G>T (p.Val3191Phe) c.6835G>T (p.Val2279Phe) c.5728G>T (p.Val1910Phe) c.9754G>T (p.Val3252Phe) c.5506G>T (p.Val1836Phe) c.8734G>T (p.Val2912Phe) | |
8 | g.99835671T>A | CA371784537 | VPS13B | c.9950T>A (p.Val3317Asp) n.10020T>A c.*5632T>A (n.*5632T>A) c.9875T>A (p.Val3292Asp) c.9947T>A (p.Val3316Asp) c.9872T>A (p.Val3291Asp) c.9572T>A (p.Val3191Asp) c.6836T>A (p.Val2279Asp) c.5729T>A (p.Val1910Asp) c.9755T>A (p.Val3252Asp) c.5507T>A (p.Val1836Asp) c.8735T>A (p.Val2912Asp) | |
8 | g.99835671T>C | CA371784538 | VPS13B | c.9950T>C (p.Val3317Ala) n.10020T>C c.*5632T>C (n.*5632T>C) c.9875T>C (p.Val3292Ala) c.9947T>C (p.Val3316Ala) c.9872T>C (p.Val3291Ala) c.9572T>C (p.Val3191Ala) c.6836T>C (p.Val2279Ala) c.5729T>C (p.Val1910Ala) c.9755T>C (p.Val3252Ala) c.5507T>C (p.Val1836Ala) c.8735T>C (p.Val2912Ala) | |
8 | g.99835671T>G | CA371784541 | VPS13B | c.9950T>G (p.Val3317Gly) n.10020T>G c.*5632T>G (n.*5632T>G) c.9875T>G (p.Val3292Gly) c.9947T>G (p.Val3316Gly) c.9872T>G (p.Val3291Gly) c.9572T>G (p.Val3191Gly) c.6836T>G (p.Val2279Gly) c.5729T>G (p.Val1910Gly) c.9755T>G (p.Val3252Gly) c.5507T>G (p.Val1836Gly) c.8735T>G (p.Val2912Gly) | |
8 | g.99835672T>A | CA462340939 | VPS13B | c.9951T>A (p.Val3317=) n.10021T>A c.*5633T>A (n.*5633T>A) c.9876T>A (p.Val3292=) c.9948T>A (p.Val3316=) c.9873T>A (p.Val3291=) c.9573T>A (p.Val3191=) c.6837T>A (p.Val2279=) c.5730T>A (p.Val1910=) c.9756T>A (p.Val3252=) c.5508T>A (p.Val1836=) c.8736T>A (p.Val2912=) | |
8 | g.99835672T>C | CA462340937 | VPS13B | c.9951T>C (p.Val3317=) n.10021T>C c.*5633T>C (n.*5633T>C) c.9876T>C (p.Val3292=) c.9948T>C (p.Val3316=) c.9873T>C (p.Val3291=) c.9573T>C (p.Val3191=) c.6837T>C (p.Val2279=) c.5730T>C (p.Val1910=) c.9756T>C (p.Val3252=) c.5508T>C (p.Val1836=) c.8736T>C (p.Val2912=) | |
8 | g.99835672T>G | CA4824817 | VPS13B | c.9951T>G (p.Val3317=) n.10021T>G c.*5633T>G (n.*5633T>G) c.9876T>G (p.Val3292=) c.9948T>G (p.Val3316=) c.9873T>G (p.Val3291=) c.9573T>G (p.Val3191=) c.6837T>G (p.Val2279=) c.5730T>G (p.Val1910=) c.9756T>G (p.Val3252=) c.5508T>G (p.Val1836=) c.8736T>G (p.Val2912=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835673G>A | CA371784552 | VPS13B | c.9952G>A (p.Glu3318Lys) n.10022G>A c.*5634G>A (n.*5634G>A) c.9877G>A (p.Glu3293Lys) c.9949G>A (p.Glu3317Lys) c.9874G>A (p.Glu3292Lys) c.9574G>A (p.Glu3192Lys) c.6838G>A (p.Glu2280Lys) c.5731G>A (p.Glu1911Lys) c.9757G>A (p.Glu3253Lys) c.5509G>A (p.Glu1837Lys) c.8737G>A (p.Glu2913Lys) | |
8 | g.99835673G>C | CA371784555 | VPS13B | c.9952G>C (p.Glu3318Gln) n.10022G>C c.*5634G>C (n.*5634G>C) c.9877G>C (p.Glu3293Gln) c.9949G>C (p.Glu3317Gln) c.9874G>C (p.Glu3292Gln) c.9574G>C (p.Glu3192Gln) c.6838G>C (p.Glu2280Gln) c.5731G>C (p.Glu1911Gln) c.9757G>C (p.Glu3253Gln) c.5509G>C (p.Glu1837Gln) c.8737G>C (p.Glu2913Gln) | |
8 | g.99835673G>T | CA371784558 | VPS13B | c.9952G>T (p.Glu3318Ter) n.10022G>T c.*5634G>T (n.*5634G>T) c.9877G>T (p.Glu3293Ter) c.9949G>T (p.Glu3317Ter) c.9874G>T (p.Glu3292Ter) c.9574G>T (p.Glu3192Ter) c.6838G>T (p.Glu2280Ter) c.5731G>T (p.Glu1911Ter) c.9757G>T (p.Glu3253Ter) c.5509G>T (p.Glu1837Ter) c.8737G>T (p.Glu2913Ter) | gnomAD v4 |
8 | g.99835674A>C | CA371784568 | VPS13B | c.9953A>C (p.Glu3318Ala) n.10023A>C c.*5635A>C (n.*5635A>C) c.9878A>C (p.Glu3293Ala) c.9950A>C (p.Glu3317Ala) c.9875A>C (p.Glu3292Ala) c.9575A>C (p.Glu3192Ala) c.6839A>C (p.Glu2280Ala) c.5732A>C (p.Glu1911Ala) c.9758A>C (p.Glu3253Ala) c.5510A>C (p.Glu1837Ala) c.8738A>C (p.Glu2913Ala) | |
8 | g.99835674A>G | CA371784571 | VPS13B | c.9953A>G (p.Glu3318Gly) n.10023A>G c.*5635A>G (n.*5635A>G) c.9878A>G (p.Glu3293Gly) c.9950A>G (p.Glu3317Gly) c.9875A>G (p.Glu3292Gly) c.9575A>G (p.Glu3192Gly) c.6839A>G (p.Glu2280Gly) c.5732A>G (p.Glu1911Gly) c.9758A>G (p.Glu3253Gly) c.5510A>G (p.Glu1837Gly) c.8738A>G (p.Glu2913Gly) | COSMIC COSMIC |
8 | g.99835674A>T | CA371784572 | VPS13B | c.9953A>T (p.Glu3318Val) n.10023A>T c.*5635A>T (n.*5635A>T) c.9878A>T (p.Glu3293Val) c.9950A>T (p.Glu3317Val) c.9875A>T (p.Glu3292Val) c.9575A>T (p.Glu3192Val) c.6839A>T (p.Glu2280Val) c.5732A>T (p.Glu1911Val) c.9758A>T (p.Glu3253Val) c.5510A>T (p.Glu1837Val) c.8738A>T (p.Glu2913Val) | |
8 | g.99835675A>C | CA371784586 | VPS13B | c.9954A>C (p.Glu3318Asp) n.10024A>C c.*5636A>C (n.*5636A>C) c.9879A>C (p.Glu3293Asp) c.9951A>C (p.Glu3317Asp) c.9876A>C (p.Glu3292Asp) c.9576A>C (p.Glu3192Asp) c.6840A>C (p.Glu2280Asp) c.5733A>C (p.Glu1911Asp) c.9759A>C (p.Glu3253Asp) c.5511A>C (p.Glu1837Asp) c.8739A>C (p.Glu2913Asp) | |
8 | g.99835675A>G | CA462340946 | VPS13B | c.9954A>G (p.Glu3318=) n.10024A>G c.*5636A>G (n.*5636A>G) c.9879A>G (p.Glu3293=) c.9951A>G (p.Glu3317=) c.9876A>G (p.Glu3292=) c.9576A>G (p.Glu3192=) c.6840A>G (p.Glu2280=) c.5733A>G (p.Glu1911=) c.9759A>G (p.Glu3253=) c.5511A>G (p.Glu1837=) c.8739A>G (p.Glu2913=) | |
8 | g.99835675A>T | CA371784587 | VPS13B | c.9954A>T (p.Glu3318Asp) n.10024A>T c.*5636A>T (n.*5636A>T) c.9879A>T (p.Glu3293Asp) c.9951A>T (p.Glu3317Asp) c.9876A>T (p.Glu3292Asp) c.9576A>T (p.Glu3192Asp) c.6840A>T (p.Glu2280Asp) c.5733A>T (p.Glu1911Asp) c.9759A>T (p.Glu3253Asp) c.5511A>T (p.Glu1837Asp) c.8739A>T (p.Glu2913Asp) | |
8 | g.99835676C>A | CA371784603 | VPS13B | c.9955C>A (p.Pro3319Thr) n.10025C>A c.*5637C>A (n.*5637C>A) c.9880C>A (p.Pro3294Thr) c.9952C>A (p.Pro3318Thr) c.9877C>A (p.Pro3293Thr) c.9577C>A (p.Pro3193Thr) c.6841C>A (p.Pro2281Thr) c.5734C>A (p.Pro1912Thr) c.9760C>A (p.Pro3254Thr) c.5512C>A (p.Pro1838Thr) c.8740C>A (p.Pro2914Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835676C>G | CA371784601 | VPS13B | c.9955C>G (p.Pro3319Ala) n.10025C>G c.*5637C>G (n.*5637C>G) c.9880C>G (p.Pro3294Ala) c.9952C>G (p.Pro3318Ala) c.9877C>G (p.Pro3293Ala) c.9577C>G (p.Pro3193Ala) c.6841C>G (p.Pro2281Ala) c.5734C>G (p.Pro1912Ala) c.9760C>G (p.Pro3254Ala) c.5512C>G (p.Pro1838Ala) c.8740C>G (p.Pro2914Ala) | |
8 | g.99835676C>T | CA371784599 | VPS13B | c.9955C>T (p.Pro3319Ser) n.10025C>T c.*5637C>T (n.*5637C>T) c.9880C>T (p.Pro3294Ser) c.9952C>T (p.Pro3318Ser) c.9877C>T (p.Pro3293Ser) c.9577C>T (p.Pro3193Ser) c.6841C>T (p.Pro2281Ser) c.5734C>T (p.Pro1912Ser) c.9760C>T (p.Pro3254Ser) c.5512C>T (p.Pro1838Ser) c.8740C>T (p.Pro2914Ser) | |
8 | g.99835676_99835677del | CA16041267 | VPS13B | c.9955_9956del (p.Pro3319SerfsTer3) n.10025_10026del c.*5637_*5638del (n.*5637_*5638del) c.9880_9881del (p.Pro3294SerfsTer3) c.9952_9953del (p.Pro3318SerfsTer3) c.9877_9878del (p.Pro3293SerfsTer3) c.9577_9578del (p.Pro3193SerfsTer3) c.6841_6842del (p.Pro2281SerfsTer3) c.5734_5735del (p.Pro1912SerfsTer3) c.9760_9761del (p.Pro3254SerfsTer3) c.5512_5513del (p.Pro1838SerfsTer3) c.8740_8741del (p.Pro2914SerfsTer3) | ClinVar dbSNP |
8 | g.99835677C>A | CA371784604 | VPS13B | c.9956C>A (p.Pro3319His) n.10026C>A c.*5638C>A (n.*5638C>A) c.9881C>A (p.Pro3294His) c.9953C>A (p.Pro3318His) c.9878C>A (p.Pro3293His) c.9578C>A (p.Pro3193His) c.6842C>A (p.Pro2281His) c.5735C>A (p.Pro1912His) c.9761C>A (p.Pro3254His) c.5513C>A (p.Pro1838His) c.8741C>A (p.Pro2914His) | dbSNP |
8 | g.99835677C>G | CA371784605 | VPS13B | c.9956C>G (p.Pro3319Arg) n.10026C>G c.*5638C>G (n.*5638C>G) c.9881C>G (p.Pro3294Arg) c.9953C>G (p.Pro3318Arg) c.9878C>G (p.Pro3293Arg) c.9578C>G (p.Pro3193Arg) c.6842C>G (p.Pro2281Arg) c.5735C>G (p.Pro1912Arg) c.9761C>G (p.Pro3254Arg) c.5513C>G (p.Pro1838Arg) c.8741C>G (p.Pro2914Arg) | |
8 | g.99835677C>T | CA371784606 | VPS13B | c.9956C>T (p.Pro3319Leu) n.10026C>T c.*5638C>T (n.*5638C>T) c.9881C>T (p.Pro3294Leu) c.9953C>T (p.Pro3318Leu) c.9878C>T (p.Pro3293Leu) c.9578C>T (p.Pro3193Leu) c.6842C>T (p.Pro2281Leu) c.5735C>T (p.Pro1912Leu) c.9761C>T (p.Pro3254Leu) c.5513C>T (p.Pro1838Leu) c.8741C>T (p.Pro2914Leu) | |
8 | g.99835678T>A | CA462340952 | VPS13B | c.9957T>A (p.Pro3319=) n.10027T>A c.*5639T>A (n.*5639T>A) c.9882T>A (p.Pro3294=) c.9954T>A (p.Pro3318=) c.9879T>A (p.Pro3293=) c.9579T>A (p.Pro3193=) c.6843T>A (p.Pro2281=) c.5736T>A (p.Pro1912=) c.9762T>A (p.Pro3254=) c.5514T>A (p.Pro1838=) c.8742T>A (p.Pro2914=) | |
8 | g.99835678T>C | CA462340955 | VPS13B | c.9957T>C (p.Pro3319=) n.10027T>C c.*5639T>C (n.*5639T>C) c.9882T>C (p.Pro3294=) c.9954T>C (p.Pro3318=) c.9879T>C (p.Pro3293=) c.9579T>C (p.Pro3193=) c.6843T>C (p.Pro2281=) c.5736T>C (p.Pro1912=) c.9762T>C (p.Pro3254=) c.5514T>C (p.Pro1838=) c.8742T>C (p.Pro2914=) | |
8 | g.99835678T>G | CA462340954 | VPS13B | c.9957T>G (p.Pro3319=) n.10027T>G c.*5639T>G (n.*5639T>G) c.9882T>G (p.Pro3294=) c.9954T>G (p.Pro3318=) c.9879T>G (p.Pro3293=) c.9579T>G (p.Pro3193=) c.6843T>G (p.Pro2281=) c.5736T>G (p.Pro1912=) c.9762T>G (p.Pro3254=) c.5514T>G (p.Pro1838=) c.8742T>G (p.Pro2914=) | |
8 | g.99835679C>A | CA371784609 | VPS13B | c.9958C>A (p.Leu3320Ile) n.10028C>A c.*5640C>A (n.*5640C>A) c.9883C>A (p.Leu3295Ile) c.9955C>A (p.Leu3319Ile) c.9880C>A (p.Leu3294Ile) c.9580C>A (p.Leu3194Ile) c.6844C>A (p.Leu2282Ile) c.5737C>A (p.Leu1913Ile) c.9763C>A (p.Leu3255Ile) c.5515C>A (p.Leu1839Ile) c.8743C>A (p.Leu2915Ile) | |
8 | g.99835679C>G | CA371784612 | VPS13B | c.9958C>G (p.Leu3320Val) n.10028C>G c.*5640C>G (n.*5640C>G) c.9883C>G (p.Leu3295Val) c.9955C>G (p.Leu3319Val) c.9880C>G (p.Leu3294Val) c.9580C>G (p.Leu3194Val) c.6844C>G (p.Leu2282Val) c.5737C>G (p.Leu1913Val) c.9763C>G (p.Leu3255Val) c.5515C>G (p.Leu1839Val) c.8743C>G (p.Leu2915Val) | |
8 | g.99835679C>T | CA462340958 | VPS13B | c.9958C>T (p.Leu3320=) n.10028C>T c.*5640C>T (n.*5640C>T) c.9883C>T (p.Leu3295=) c.9955C>T (p.Leu3319=) c.9880C>T (p.Leu3294=) c.9580C>T (p.Leu3194=) c.6844C>T (p.Leu2282=) c.5737C>T (p.Leu1913=) c.9763C>T (p.Leu3255=) c.5515C>T (p.Leu1839=) c.8743C>T (p.Leu2915=) | |
8 | g.99835680T>A | CA371784615 | VPS13B | c.9959T>A (p.Leu3320Gln) n.10029T>A c.*5641T>A (n.*5641T>A) c.9884T>A (p.Leu3295Gln) c.9956T>A (p.Leu3319Gln) c.9881T>A (p.Leu3294Gln) c.9581T>A (p.Leu3194Gln) c.6845T>A (p.Leu2282Gln) c.5738T>A (p.Leu1913Gln) c.9764T>A (p.Leu3255Gln) c.5516T>A (p.Leu1839Gln) c.8744T>A (p.Leu2915Gln) | |
8 | g.99835680T>C | CA371784617 | VPS13B | c.9959T>C (p.Leu3320Pro) n.10029T>C c.*5641T>C (n.*5641T>C) c.9884T>C (p.Leu3295Pro) c.9956T>C (p.Leu3319Pro) c.9881T>C (p.Leu3294Pro) c.9581T>C (p.Leu3194Pro) c.6845T>C (p.Leu2282Pro) c.5738T>C (p.Leu1913Pro) c.9764T>C (p.Leu3255Pro) c.5516T>C (p.Leu1839Pro) c.8744T>C (p.Leu2915Pro) | |
8 | g.99835680T>G | CA371784619 | VPS13B | c.9959T>G (p.Leu3320Arg) n.10029T>G c.*5641T>G (n.*5641T>G) c.9884T>G (p.Leu3295Arg) c.9956T>G (p.Leu3319Arg) c.9881T>G (p.Leu3294Arg) c.9581T>G (p.Leu3194Arg) c.6845T>G (p.Leu2282Arg) c.5738T>G (p.Leu1913Arg) c.9764T>G (p.Leu3255Arg) c.5516T>G (p.Leu1839Arg) c.8744T>G (p.Leu2915Arg) | |
8 | g.99835681A>C | CA462340962 | VPS13B | c.9960A>C (p.Leu3320=) n.10030A>C c.*5642A>C (n.*5642A>C) c.9885A>C (p.Leu3295=) c.9957A>C (p.Leu3319=) c.9882A>C (p.Leu3294=) c.9582A>C (p.Leu3194=) c.6846A>C (p.Leu2282=) c.5739A>C (p.Leu1913=) c.9765A>C (p.Leu3255=) c.5517A>C (p.Leu1839=) c.8745A>C (p.Leu2915=) | |
8 | g.99835681A>G | CA462340964 | VPS13B | c.9960A>G (p.Leu3320=) n.10030A>G c.*5642A>G (n.*5642A>G) c.9885A>G (p.Leu3295=) c.9957A>G (p.Leu3319=) c.9882A>G (p.Leu3294=) c.9582A>G (p.Leu3194=) c.6846A>G (p.Leu2282=) c.5739A>G (p.Leu1913=) c.9765A>G (p.Leu3255=) c.5517A>G (p.Leu1839=) c.8745A>G (p.Leu2915=) | |
8 | g.99835681A>T | CA462340965 | VPS13B | c.9960A>T (p.Leu3320=) n.10030A>T c.*5642A>T (n.*5642A>T) c.9885A>T (p.Leu3295=) c.9957A>T (p.Leu3319=) c.9882A>T (p.Leu3294=) c.9582A>T (p.Leu3194=) c.6846A>T (p.Leu2282=) c.5739A>T (p.Leu1913=) c.9765A>T (p.Leu3255=) c.5517A>T (p.Leu1839=) c.8745A>T (p.Leu2915=) | |
8 | g.99835682G>A | CA371784620 | VPS13B | c.9961G>A (p.Asp3321Asn) n.10031G>A c.*5643G>A (n.*5643G>A) c.9886G>A (p.Asp3296Asn) c.9958G>A (p.Asp3320Asn) c.9883G>A (p.Asp3295Asn) c.9583G>A (p.Asp3195Asn) c.6847G>A (p.Asp2283Asn) c.5740G>A (p.Asp1914Asn) c.9766G>A (p.Asp3256Asn) c.5518G>A (p.Asp1840Asn) c.8746G>A (p.Asp2916Asn) | |
8 | g.99835682G>C | CA371784621 | VPS13B | c.9961G>C (p.Asp3321His) n.10031G>C c.*5643G>C (n.*5643G>C) c.9886G>C (p.Asp3296His) c.9958G>C (p.Asp3320His) c.9883G>C (p.Asp3295His) c.9583G>C (p.Asp3195His) c.6847G>C (p.Asp2283His) c.5740G>C (p.Asp1914His) c.9766G>C (p.Asp3256His) c.5518G>C (p.Asp1840His) c.8746G>C (p.Asp2916His) | gnomAD v4 |
8 | g.99835682G>T | CA371784623 | VPS13B | c.9961G>T (p.Asp3321Tyr) n.10031G>T c.*5643G>T (n.*5643G>T) c.9886G>T (p.Asp3296Tyr) c.9958G>T (p.Asp3320Tyr) c.9883G>T (p.Asp3295Tyr) c.9583G>T (p.Asp3195Tyr) c.6847G>T (p.Asp2283Tyr) c.5740G>T (p.Asp1914Tyr) c.9766G>T (p.Asp3256Tyr) c.5518G>T (p.Asp1840Tyr) c.8746G>T (p.Asp2916Tyr) | |
8 | g.99835683A>C | CA371784635 | VPS13B | c.9962A>C (p.Asp3321Ala) n.10032A>C c.*5644A>C (n.*5644A>C) c.9887A>C (p.Asp3296Ala) c.9959A>C (p.Asp3320Ala) c.9884A>C (p.Asp3295Ala) c.9584A>C (p.Asp3195Ala) c.6848A>C (p.Asp2283Ala) c.5741A>C (p.Asp1914Ala) c.9767A>C (p.Asp3256Ala) c.5519A>C (p.Asp1840Ala) c.8747A>C (p.Asp2916Ala) | |
8 | g.99835683A>G | CA371784628 | VPS13B | c.9962A>G (p.Asp3321Gly) n.10032A>G c.*5644A>G (n.*5644A>G) c.9887A>G (p.Asp3296Gly) c.9959A>G (p.Asp3320Gly) c.9884A>G (p.Asp3295Gly) c.9584A>G (p.Asp3195Gly) c.6848A>G (p.Asp2283Gly) c.5741A>G (p.Asp1914Gly) c.9767A>G (p.Asp3256Gly) c.5519A>G (p.Asp1840Gly) c.8747A>G (p.Asp2916Gly) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.99835683A>T | CA371784626 | VPS13B | c.9962A>T (p.Asp3321Val) n.10032A>T c.*5644A>T (n.*5644A>T) c.9887A>T (p.Asp3296Val) c.9959A>T (p.Asp3320Val) c.9884A>T (p.Asp3295Val) c.9584A>T (p.Asp3195Val) c.6848A>T (p.Asp2283Val) c.5741A>T (p.Asp1914Val) c.9767A>T (p.Asp3256Val) c.5519A>T (p.Asp1840Val) c.8747A>T (p.Asp2916Val) | gnomAD v4 |
8 | g.99835684T>A | CA371784639 | VPS13B | c.9963T>A (p.Asp3321Glu) n.10033T>A c.*5645T>A (n.*5645T>A) c.9888T>A (p.Asp3296Glu) c.9960T>A (p.Asp3320Glu) c.9885T>A (p.Asp3295Glu) c.9585T>A (p.Asp3195Glu) c.6849T>A (p.Asp2283Glu) c.5742T>A (p.Asp1914Glu) c.9768T>A (p.Asp3256Glu) c.5520T>A (p.Asp1840Glu) c.8748T>A (p.Asp2916Glu) | gnomAD v4 |
8 | g.99835684T>C | CA462340972 | VPS13B | c.9963T>C (p.Asp3321=) n.10033T>C c.*5645T>C (n.*5645T>C) c.9888T>C (p.Asp3296=) c.9960T>C (p.Asp3320=) c.9885T>C (p.Asp3295=) c.9585T>C (p.Asp3195=) c.6849T>C (p.Asp2283=) c.5742T>C (p.Asp1914=) c.9768T>C (p.Asp3256=) c.5520T>C (p.Asp1840=) c.8748T>C (p.Asp2916=) | |
8 | g.99835684T>G | CA371784641 | VPS13B | c.9963T>G (p.Asp3321Glu) n.10033T>G c.*5645T>G (n.*5645T>G) c.9888T>G (p.Asp3296Glu) c.9960T>G (p.Asp3320Glu) c.9885T>G (p.Asp3295Glu) c.9585T>G (p.Asp3195Glu) c.6849T>G (p.Asp2283Glu) c.5742T>G (p.Asp1914Glu) c.9768T>G (p.Asp3256Glu) c.5520T>G (p.Asp1840Glu) c.8748T>G (p.Asp2916Glu) | |
8 | g.99835685G>A | CA4824818 | VPS13B | c.9964G>A (p.Glu3322Lys) n.10034G>A c.*5646G>A (n.*5646G>A) c.9889G>A (p.Glu3297Lys) c.9961G>A (p.Glu3321Lys) c.9886G>A (p.Glu3296Lys) c.9586G>A (p.Glu3196Lys) c.6850G>A (p.Glu2284Lys) c.5743G>A (p.Glu1915Lys) c.9769G>A (p.Glu3257Lys) c.5521G>A (p.Glu1841Lys) c.8749G>A (p.Glu2917Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.99835685G>C | CA371784646 | VPS13B | c.9964G>C (p.Glu3322Gln) n.10034G>C c.*5646G>C (n.*5646G>C) c.9889G>C (p.Glu3297Gln) c.9961G>C (p.Glu3321Gln) c.9886G>C (p.Glu3296Gln) c.9586G>C (p.Glu3196Gln) c.6850G>C (p.Glu2284Gln) c.5743G>C (p.Glu1915Gln) c.9769G>C (p.Glu3257Gln) c.5521G>C (p.Glu1841Gln) c.8749G>C (p.Glu2917Gln) | |
8 | g.99835685G>T | CA371784650 | VPS13B | c.9964G>T (p.Glu3322Ter) n.10034G>T c.*5646G>T (n.*5646G>T) c.9889G>T (p.Glu3297Ter) c.9961G>T (p.Glu3321Ter) c.9886G>T (p.Glu3296Ter) c.9586G>T (p.Glu3196Ter) c.6850G>T (p.Glu2284Ter) c.5743G>T (p.Glu1915Ter) c.9769G>T (p.Glu3257Ter) c.5521G>T (p.Glu1841Ter) c.8749G>T (p.Glu2917Ter) | |
8 | g.99835686A>C | CA371784651 | VPS13B | c.9965A>C (p.Glu3322Ala) n.10035A>C c.*5647A>C (n.*5647A>C) c.9890A>C (p.Glu3297Ala) c.9962A>C (p.Glu3321Ala) c.9887A>C (p.Glu3296Ala) c.9587A>C (p.Glu3196Ala) c.6851A>C (p.Glu2284Ala) c.5744A>C (p.Glu1915Ala) c.9770A>C (p.Glu3257Ala) c.5522A>C (p.Glu1841Ala) c.8750A>C (p.Glu2917Ala) | |
8 | g.99835686A>G | CA371784652 | VPS13B | c.9965A>G (p.Glu3322Gly) n.10035A>G c.*5647A>G (n.*5647A>G) c.9890A>G (p.Glu3297Gly) c.9962A>G (p.Glu3321Gly) c.9887A>G (p.Glu3296Gly) c.9587A>G (p.Glu3196Gly) c.6851A>G (p.Glu2284Gly) c.5744A>G (p.Glu1915Gly) c.9770A>G (p.Glu3257Gly) c.5522A>G (p.Glu1841Gly) c.8750A>G (p.Glu2917Gly) | |
8 | g.99835686A>T | CA371784653 | VPS13B | c.9965A>T (p.Glu3322Val) n.10035A>T c.*5647A>T (n.*5647A>T) c.9890A>T (p.Glu3297Val) c.9962A>T (p.Glu3321Val) c.9887A>T (p.Glu3296Val) c.9587A>T (p.Glu3196Val) c.6851A>T (p.Glu2284Val) c.5744A>T (p.Glu1915Val) c.9770A>T (p.Glu3257Val) c.5522A>T (p.Glu1841Val) c.8750A>T (p.Glu2917Val) | |
8 | g.99835687A>C | CA371784654 | VPS13B | c.9966A>C (p.Glu3322Asp) n.10036A>C c.*5648A>C (n.*5648A>C) c.9891A>C (p.Glu3297Asp) c.9963A>C (p.Glu3321Asp) c.9888A>C (p.Glu3296Asp) c.9588A>C (p.Glu3196Asp) c.6852A>C (p.Glu2284Asp) c.5745A>C (p.Glu1915Asp) c.9771A>C (p.Glu3257Asp) c.5523A>C (p.Glu1841Asp) c.8751A>C (p.Glu2917Asp) | |
8 | g.99835687A>G | CA462340979 | VPS13B | c.9966A>G (p.Glu3322=) n.10036A>G c.*5648A>G (n.*5648A>G) c.9891A>G (p.Glu3297=) c.9963A>G (p.Glu3321=) c.9888A>G (p.Glu3296=) c.9588A>G (p.Glu3196=) c.6852A>G (p.Glu2284=) c.5745A>G (p.Glu1915=) c.9771A>G (p.Glu3257=) c.5523A>G (p.Glu1841=) c.8751A>G (p.Glu2917=) | |
8 | g.99835687A>T | CA371784655 | VPS13B | c.9966A>T (p.Glu3322Asp) n.10036A>T c.*5648A>T (n.*5648A>T) c.9891A>T (p.Glu3297Asp) c.9963A>T (p.Glu3321Asp) c.9888A>T (p.Glu3296Asp) c.9588A>T (p.Glu3196Asp) c.6852A>T (p.Glu2284Asp) c.5745A>T (p.Glu1915Asp) c.9771A>T (p.Glu3257Asp) c.5523A>T (p.Glu1841Asp) c.8751A>T (p.Glu2917Asp) | |
8 | g.99835687_99835688insCCTCTAGA | CA2573143609 | VPS13B | c.9966_9967insCCTCTAGA (p.Val3323ProfsTer4) n.10036_10037insCCTCTAGA c.*5648_*5649insCCTCTAGA (n.*5648_*5649insCCTCTAGA) c.9891_9892insCCTCTAGA (p.Val3298ProfsTer4) c.9963_9964insCCTCTAGA (p.Val3322ProfsTer4) c.9888_9889insCCTCTAGA (p.Val3297ProfsTer4) c.9588_9589insCCTCTAGA (p.Val3197ProfsTer4) c.6852_6853insCCTCTAGA (p.Val2285ProfsTer4) c.5745_5746insCCTCTAGA (p.Val1916ProfsTer4) c.9771_9772insCCTCTAGA (p.Val3258ProfsTer4) c.5523_5524insCCTCTAGA (p.Val1842ProfsTer4) c.8751_8752insCCTCTAGA (p.Val2918ProfsTer4) | ClinVar dbSNP |
8 | g.99835688G>A | CA371784656 | VPS13B | c.9967G>A (p.Val3323Ile) n.10037G>A c.*5649G>A (n.*5649G>A) c.9892G>A (p.Val3298Ile) c.9964G>A (p.Val3322Ile) c.9889G>A (p.Val3297Ile) c.9589G>A (p.Val3197Ile) c.6853G>A (p.Val2285Ile) c.5746G>A (p.Val1916Ile) c.9772G>A (p.Val3258Ile) c.5524G>A (p.Val1842Ile) c.8752G>A (p.Val2918Ile) | |
8 | g.99835688G>C | CA371784665 | VPS13B | c.9967G>C (p.Val3323Leu) n.10037G>C c.*5649G>C (n.*5649G>C) c.9892G>C (p.Val3298Leu) c.9964G>C (p.Val3322Leu) c.9889G>C (p.Val3297Leu) c.9589G>C (p.Val3197Leu) c.6853G>C (p.Val2285Leu) c.5746G>C (p.Val1916Leu) c.9772G>C (p.Val3258Leu) c.5524G>C (p.Val1842Leu) c.8752G>C (p.Val2918Leu) | |
8 | g.99835688G>T | CA371784669 | VPS13B | c.9967G>T (p.Val3323Leu) n.10037G>T c.*5649G>T (n.*5649G>T) c.9892G>T (p.Val3298Leu) c.9964G>T (p.Val3322Leu) c.9889G>T (p.Val3297Leu) c.9589G>T (p.Val3197Leu) c.6853G>T (p.Val2285Leu) c.5746G>T (p.Val1916Leu) c.9772G>T (p.Val3258Leu) c.5524G>T (p.Val1842Leu) c.8752G>T (p.Val2918Leu) | |
8 | g.99835689T>A | CA371784675 | VPS13B | c.9968T>A (p.Val3323Glu) n.10038T>A c.*5650T>A (n.*5650T>A) c.9893T>A (p.Val3298Glu) c.9965T>A (p.Val3322Glu) c.9890T>A (p.Val3297Glu) c.9590T>A (p.Val3197Glu) c.6854T>A (p.Val2285Glu) c.5747T>A (p.Val1916Glu) c.9773T>A (p.Val3258Glu) c.5525T>A (p.Val1842Glu) c.8753T>A (p.Val2918Glu) | |
8 | g.99835689T>C | CA371784672 | VPS13B | c.9968T>C (p.Val3323Ala) n.10038T>C c.*5650T>C (n.*5650T>C) c.9893T>C (p.Val3298Ala) c.9965T>C (p.Val3322Ala) c.9890T>C (p.Val3297Ala) c.9590T>C (p.Val3197Ala) c.6854T>C (p.Val2285Ala) c.5747T>C (p.Val1916Ala) c.9773T>C (p.Val3258Ala) c.5525T>C (p.Val1842Ala) c.8753T>C (p.Val2918Ala) | dbSNP gnomAD v2 |
8 | g.99835689T>G | CA371784674 | VPS13B | c.9968T>G (p.Val3323Gly) n.10038T>G c.*5650T>G (n.*5650T>G) c.9893T>G (p.Val3298Gly) c.9965T>G (p.Val3322Gly) c.9890T>G (p.Val3297Gly) c.9590T>G (p.Val3197Gly) c.6854T>G (p.Val2285Gly) c.5747T>G (p.Val1916Gly) c.9773T>G (p.Val3258Gly) c.5525T>G (p.Val1842Gly) c.8753T>G (p.Val2918Gly) | |
8 | g.99835690A>C | CA462340985 | VPS13B | c.9969A>C (p.Val3323=) n.10039A>C c.*5651A>C (n.*5651A>C) c.9894A>C (p.Val3298=) c.9966A>C (p.Val3322=) c.9891A>C (p.Val3297=) c.9591A>C (p.Val3197=) c.6855A>C (p.Val2285=) c.5748A>C (p.Val1916=) c.9774A>C (p.Val3258=) c.5526A>C (p.Val1842=) c.8754A>C (p.Val2918=) | |
8 | g.99835690A>G | CA462340986 | VPS13B | c.9969A>G (p.Val3323=) n.10039A>G c.*5651A>G (n.*5651A>G) c.9894A>G (p.Val3298=) c.9966A>G (p.Val3322=) c.9891A>G (p.Val3297=) c.9591A>G (p.Val3197=) c.6855A>G (p.Val2285=) c.5748A>G (p.Val1916=) c.9774A>G (p.Val3258=) c.5526A>G (p.Val1842=) c.8754A>G (p.Val2918=) | gnomAD v4 |
8 | g.99835690A>T | CA462340988 | VPS13B | c.9969A>T (p.Val3323=) n.10039A>T c.*5651A>T (n.*5651A>T) c.9894A>T (p.Val3298=) c.9966A>T (p.Val3322=) c.9891A>T (p.Val3297=) c.9591A>T (p.Val3197=) c.6855A>T (p.Val2285=) c.5748A>T (p.Val1916=) c.9774A>T (p.Val3258=) c.5526A>T (p.Val1842=) c.8754A>T (p.Val2918=) | |
8 | g.99835691A>C | CA371784677 | VPS13B | c.9970A>C (p.Thr3324Pro) n.10040A>C c.*5652A>C (n.*5652A>C) c.9895A>C (p.Thr3299Pro) c.9967A>C (p.Thr3323Pro) c.9892A>C (p.Thr3298Pro) c.9592A>C (p.Thr3198Pro) c.6856A>C (p.Thr2286Pro) c.5749A>C (p.Thr1917Pro) c.9775A>C (p.Thr3259Pro) c.5527A>C (p.Thr1843Pro) c.8755A>C (p.Thr2919Pro) | |
8 | g.99835691A>G | CA371784681 | VPS13B | c.9970A>G (p.Thr3324Ala) n.10040A>G c.*5652A>G (n.*5652A>G) c.9895A>G (p.Thr3299Ala) c.9967A>G (p.Thr3323Ala) c.9892A>G (p.Thr3298Ala) c.9592A>G (p.Thr3198Ala) c.6856A>G (p.Thr2286Ala) c.5749A>G (p.Thr1917Ala) c.9775A>G (p.Thr3259Ala) c.5527A>G (p.Thr1843Ala) c.8755A>G (p.Thr2919Ala) | gnomAD v4 |
8 | g.99835691A>T | CA371784683 | VPS13B | c.9970A>T (p.Thr3324Ser) n.10040A>T c.*5652A>T (n.*5652A>T) c.9895A>T (p.Thr3299Ser) c.9967A>T (p.Thr3323Ser) c.9892A>T (p.Thr3298Ser) c.9592A>T (p.Thr3198Ser) c.6856A>T (p.Thr2286Ser) c.5749A>T (p.Thr1917Ser) c.9775A>T (p.Thr3259Ser) c.5527A>T (p.Thr1843Ser) c.8755A>T (p.Thr2919Ser) | |
8 | g.99835692C>A | CA371784688 | VPS13B | c.9971C>A (p.Thr3324Lys) n.10041C>A c.*5653C>A (n.*5653C>A) c.9896C>A (p.Thr3299Lys) c.9968C>A (p.Thr3323Lys) c.9893C>A (p.Thr3298Lys) c.9593C>A (p.Thr3198Lys) c.6857C>A (p.Thr2286Lys) c.5750C>A (p.Thr1917Lys) c.9776C>A (p.Thr3259Lys) c.5528C>A (p.Thr1843Lys) c.8756C>A (p.Thr2919Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.99835692C>G | CA371784693 | VPS13B | c.9971C>G (p.Thr3324Arg) n.10041C>G c.*5653C>G (n.*5653C>G) c.9896C>G (p.Thr3299Arg) c.9968C>G (p.Thr3323Arg) c.9893C>G (p.Thr3298Arg) c.9593C>G (p.Thr3198Arg) c.6857C>G (p.Thr2286Arg) c.5750C>G (p.Thr1917Arg) c.9776C>G (p.Thr3259Arg) c.5528C>G (p.Thr1843Arg) c.8756C>G (p.Thr2919Arg) | |
8 | g.99835692C>T | CA371784695 | VPS13B | c.9971C>T (p.Thr3324Ile) n.10041C>T c.*5653C>T (n.*5653C>T) c.9896C>T (p.Thr3299Ile) c.9968C>T (p.Thr3323Ile) c.9893C>T (p.Thr3298Ile) c.9593C>T (p.Thr3198Ile) c.6857C>T (p.Thr2286Ile) c.5750C>T (p.Thr1917Ile) c.9776C>T (p.Thr3259Ile) c.5528C>T (p.Thr1843Ile) c.8756C>T (p.Thr2919Ile) | |
8 | g.99835693A>C | CA462340994 | VPS13B | c.9972A>C (p.Thr3324=) n.10042A>C c.*5654A>C (n.*5654A>C) c.9897A>C (p.Thr3299=) c.9969A>C (p.Thr3323=) c.9894A>C (p.Thr3298=) c.9594A>C (p.Thr3198=) c.6858A>C (p.Thr2286=) c.5751A>C (p.Thr1917=) c.9777A>C (p.Thr3259=) c.5529A>C (p.Thr1843=) c.8757A>C (p.Thr2919=) | |
8 | g.99835693A>G | CA462340996 | VPS13B | c.9972A>G (p.Thr3324=) n.10042A>G c.*5654A>G (n.*5654A>G) c.9897A>G (p.Thr3299=) c.9969A>G (p.Thr3323=) c.9894A>G (p.Thr3298=) c.9594A>G (p.Thr3198=) c.6858A>G (p.Thr2286=) c.5751A>G (p.Thr1917=) c.9777A>G (p.Thr3259=) c.5529A>G (p.Thr1843=) c.8757A>G (p.Thr2919=) | |
8 | g.99835693A>T | CA462340997 | VPS13B | c.9972A>T (p.Thr3324=) n.10042A>T c.*5654A>T (n.*5654A>T) c.9897A>T (p.Thr3299=) c.9969A>T (p.Thr3323=) c.9894A>T (p.Thr3298=) c.9594A>T (p.Thr3198=) c.6858A>T (p.Thr2286=) c.5751A>T (p.Thr1917=) c.9777A>T (p.Thr3259=) c.5529A>T (p.Thr1843=) c.8757A>T (p.Thr2919=) | |
8 | g.99835694A>C | CA371784698 | VPS13B | c.9973A>C (p.Thr3325Pro) n.10043A>C c.*5655A>C (n.*5655A>C) c.9898A>C (p.Thr3300Pro) c.9970A>C (p.Thr3324Pro) c.9895A>C (p.Thr3299Pro) c.9595A>C (p.Thr3199Pro) c.6859A>C (p.Thr2287Pro) c.5752A>C (p.Thr1918Pro) c.9778A>C (p.Thr3260Pro) c.5530A>C (p.Thr1844Pro) c.8758A>C (p.Thr2920Pro) | |
8 | g.99835694A>G | CA371784701 | VPS13B | c.9973A>G (p.Thr3325Ala) n.10043A>G c.*5655A>G (n.*5655A>G) c.9898A>G (p.Thr3300Ala) c.9970A>G (p.Thr3324Ala) c.9895A>G (p.Thr3299Ala) c.9595A>G (p.Thr3199Ala) c.6859A>G (p.Thr2287Ala) c.5752A>G (p.Thr1918Ala) c.9778A>G (p.Thr3260Ala) c.5530A>G (p.Thr1844Ala) c.8758A>G (p.Thr2920Ala) | gnomAD v4 |
8 | g.99835694A>T | CA371784702 | VPS13B | c.9973A>T (p.Thr3325Ser) n.10043A>T c.*5655A>T (n.*5655A>T) c.9898A>T (p.Thr3300Ser) c.9970A>T (p.Thr3324Ser) c.9895A>T (p.Thr3299Ser) c.9595A>T (p.Thr3199Ser) c.6859A>T (p.Thr2287Ser) c.5752A>T (p.Thr1918Ser) c.9778A>T (p.Thr3260Ser) c.5530A>T (p.Thr1844Ser) c.8758A>T (p.Thr2920Ser) | |
8 | g.99835695C>A | CA371784705 | VPS13B | c.9974C>A (p.Thr3325Asn) n.10044C>A c.*5656C>A (n.*5656C>A) c.9899C>A (p.Thr3300Asn) c.9971C>A (p.Thr3324Asn) c.9896C>A (p.Thr3299Asn) c.9596C>A (p.Thr3199Asn) c.6860C>A (p.Thr2287Asn) c.5753C>A (p.Thr1918Asn) c.9779C>A (p.Thr3260Asn) c.5531C>A (p.Thr1844Asn) c.8759C>A (p.Thr2920Asn) | gnomAD v4 |
8 | g.99835695C>G | CA371784708 | VPS13B | c.9974C>G (p.Thr3325Ser) n.10044C>G c.*5656C>G (n.*5656C>G) c.9899C>G (p.Thr3300Ser) c.9971C>G (p.Thr3324Ser) c.9896C>G (p.Thr3299Ser) c.9596C>G (p.Thr3199Ser) c.6860C>G (p.Thr2287Ser) c.5753C>G (p.Thr1918Ser) c.9779C>G (p.Thr3260Ser) c.5531C>G (p.Thr1844Ser) c.8759C>G (p.Thr2920Ser) | |
8 | g.99835695C>T | CA371784712 | VPS13B | c.9974C>T (p.Thr3325Ile) n.10044C>T c.*5656C>T (n.*5656C>T) c.9899C>T (p.Thr3300Ile) c.9971C>T (p.Thr3324Ile) c.9896C>T (p.Thr3299Ile) c.9596C>T (p.Thr3199Ile) c.6860C>T (p.Thr2287Ile) c.5753C>T (p.Thr1918Ile) c.9779C>T (p.Thr3260Ile) c.5531C>T (p.Thr1844Ile) c.8759C>T (p.Thr2920Ile) | |
8 | g.99835696T>A | CA462341003 | VPS13B | c.9975T>A (p.Thr3325=) n.10045T>A c.*5657T>A (n.*5657T>A) c.9900T>A (p.Thr3300=) c.9972T>A (p.Thr3324=) c.9897T>A (p.Thr3299=) c.9597T>A (p.Thr3199=) c.6861T>A (p.Thr2287=) c.5754T>A (p.Thr1918=) c.9780T>A (p.Thr3260=) c.5532T>A (p.Thr1844=) c.8760T>A (p.Thr2920=) | |
8 | g.99835696T>C | CA462341004 | VPS13B | c.9975T>C (p.Thr3325=) n.10045T>C c.*5657T>C (n.*5657T>C) c.9900T>C (p.Thr3300=) c.9972T>C (p.Thr3324=) c.9897T>C (p.Thr3299=) c.9597T>C (p.Thr3199=) c.6861T>C (p.Thr2287=) c.5754T>C (p.Thr1918=) c.9780T>C (p.Thr3260=) c.5532T>C (p.Thr1844=) c.8760T>C (p.Thr2920=) | gnomAD v4 |
8 | g.99835696T>G | CA462341006 | VPS13B | c.9975T>G (p.Thr3325=) n.10045T>G c.*5657T>G (n.*5657T>G) c.9900T>G (p.Thr3300=) c.9972T>G (p.Thr3324=) c.9897T>G (p.Thr3299=) c.9597T>G (p.Thr3199=) c.6861T>G (p.Thr2287=) c.5754T>G (p.Thr1918=) c.9780T>G (p.Thr3260=) c.5532T>G (p.Thr1844=) c.8760T>G (p.Thr2920=) |