Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.44303321_44303324dupCA2678953661AARS2,POLR1C,TMEM151Bc.2109_2112dup (p.Ala705HisfsTer12)
c.577-3622_577-3619dup (n.577-3622_577-3619dup)
c.314-3622_314-3619dup
c.1818_1821dup (p.Ala608HisfsTer12)
n.2144_2147dup
c.819_822dup (p.Ala275HisfsTer12)
c.946-138569_946-138566dup (n.946-138569_946-138566dup)
 gnomAD v4
6g.44303320G>ACA364337575AARS2,POLR1C,TMEM151Bc.2111C>T (p.Thr704Ile)
c.577-3623G>A (n.577-3623G>A)
c.314-3623G>A
c.1820C>T (p.Thr607Ile)
n.2146C>T
c.821C>T (p.Thr274Ile)
c.946-138570G>A (n.946-138570G>A)
6g.44303320G>CCA364337576AARS2,POLR1C,TMEM151Bc.2111C>G (p.Thr704Ser)
c.577-3623G>C (n.577-3623G>C)
c.314-3623G>C
c.1820C>G (p.Thr607Ser)
n.2146C>G
c.821C>G (p.Thr274Ser)
c.946-138570G>C (n.946-138570G>C)
6g.44303320G>TCA364337577AARS2,POLR1C,TMEM151Bc.2111C>A (p.Thr704Asn)
c.577-3623G>T (n.577-3623G>T)
c.314-3623G>T
c.1820C>A (p.Thr607Asn)
n.2146C>A
c.821C>A (p.Thr274Asn)
c.946-138570G>T (n.946-138570G>T)
6g.44303321T>ACA364337578AARS2,POLR1C,TMEM151Bc.2110A>T (p.Thr704Ser)
c.577-3622T>A (n.577-3622T>A)
c.314-3622T>A
c.1819A>T (p.Thr607Ser)
n.2145A>T
c.820A>T (p.Thr274Ser)
c.946-138569T>A (n.946-138569T>A)
6g.44303321T>CCA364337579AARS2,POLR1C,TMEM151Bc.2110A>G (p.Thr704Ala)
c.577-3622T>C (n.577-3622T>C)
c.314-3622T>C
c.1819A>G (p.Thr607Ala)
n.2145A>G
c.820A>G (p.Thr274Ala)
c.946-138569T>C (n.946-138569T>C)
6g.44303321T>GCA364337580AARS2,POLR1C,TMEM151Bc.2110A>C (p.Thr704Pro)
c.577-3622T>G (n.577-3622T>G)
c.314-3622T>G
c.1819A>C (p.Thr607Pro)
n.2145A>C
c.820A>C (p.Thr274Pro)
c.946-138569T>G (n.946-138569T>G)
6g.44303322G>ACA450316248AARS2,POLR1C,TMEM151Bc.2109C>T (p.Leu703=)
c.577-3621G>A (n.577-3621G>A)
c.314-3621G>A
c.1818C>T (p.Leu606=)
n.2144C>T
c.819C>T (p.Leu273=)
c.946-138568G>A (n.946-138568G>A)
6g.44303322G>CCA450316249AARS2,POLR1C,TMEM151Bc.2109C>G (p.Leu703=)
c.577-3621G>C (n.577-3621G>C)
c.314-3621G>C
c.1818C>G (p.Leu606=)
n.2144C>G
c.819C>G (p.Leu273=)
c.946-138568G>C (n.946-138568G>C)
6g.44303322G>TCA450316250AARS2,POLR1C,TMEM151Bc.2109C>A (p.Leu703=)
c.577-3621G>T (n.577-3621G>T)
c.314-3621G>T
c.1818C>A (p.Leu606=)
n.2144C>A
c.819C>A (p.Leu273=)
c.946-138568G>T (n.946-138568G>T)
6g.44303323A=CA1624924351AARS2,POLR1C,TMEM151Bc.2108T= (p.Leu703=)
c.577-3620A= (n.577-3620A=)
c.314-3620A=
c.1817T= (p.Leu606=)
n.2143T=
c.818T= (p.Leu273=)
c.946-138567A= (n.946-138567A=)
6g.44303323A>CCA364337581AARS2,POLR1C,TMEM151Bc.2108T>G (p.Leu703Arg)
c.577-3620A>C (n.577-3620A>C)
c.314-3620A>C
c.1817T>G (p.Leu606Arg)
n.2143T>G
c.818T>G (p.Leu273Arg)
c.946-138567A>C (n.946-138567A>C)
6g.44303323A>GCA3834104AARS2,POLR1C,TMEM151Bc.2108T>C (p.Leu703Pro)
c.577-3620A>G (n.577-3620A>G)
c.314-3620A>G
c.1817T>C (p.Leu606Pro)
n.2143T>C
c.818T>C (p.Leu273Pro)
c.946-138567A>G (n.946-138567A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.44303323A>TCA364337582AARS2,POLR1C,TMEM151Bc.2108T>A (p.Leu703His)
c.577-3620A>T (n.577-3620A>T)
c.314-3620A>T
c.1817T>A (p.Leu606His)
n.2143T>A
c.818T>A (p.Leu273His)
c.946-138567A>T (n.946-138567A>T)
6g.44303324G>ACA364337585AARS2,POLR1C,TMEM151Bc.2107C>T (p.Leu703Phe)
c.577-3619G>A (n.577-3619G>A)
c.314-3619G>A
c.1816C>T (p.Leu606Phe)
n.2142C>T
c.817C>T (p.Leu273Phe)
c.946-138566G>A (n.946-138566G>A)
6g.44303324G>CCA364337584AARS2,POLR1C,TMEM151Bc.2107C>G (p.Leu703Val)
c.577-3619G>C (n.577-3619G>C)
c.314-3619G>C
c.1816C>G (p.Leu606Val)
n.2142C>G
c.817C>G (p.Leu273Val)
c.946-138566G>C (n.946-138566G>C)
6g.44303324G>TCA364337583AARS2,POLR1C,TMEM151Bc.2107C>A (p.Leu703Ile)
c.577-3619G>T (n.577-3619G>T)
c.314-3619G>T
c.1816C>A (p.Leu606Ile)
n.2142C>A
c.817C>A (p.Leu273Ile)
c.946-138566G>T (n.946-138566G>T)
6g.44303325C>ACA450316252AARS2,POLR1C,TMEM151Bc.2106G>T (p.Ala702=)
c.577-3618C>A (n.577-3618C>A)
c.314-3618C>A
c.1815G>T (p.Ala605=)
n.2141G>T
c.816G>T (p.Ala272=)
c.946-138565C>A (n.946-138565C>A)
6g.44303325C=CA1624924353AARS2,POLR1C,TMEM151Bc.2106G= (p.Ala702=)
c.577-3618C= (n.577-3618C=)
c.314-3618C=
c.1815G= (p.Ala605=)
n.2141G=
c.816G= (p.Ala272=)
c.946-138565C= (n.946-138565C=)
6g.44303325C>GCA450316253AARS2,POLR1C,TMEM151Bc.2106G>C (p.Ala702=)
c.577-3618C>G (n.577-3618C>G)
c.314-3618C>G
c.1815G>C (p.Ala605=)
n.2141G>C
c.816G>C (p.Ala272=)
c.946-138565C>G (n.946-138565C>G)
6g.44303325C>TCA3834105AARS2,POLR1C,TMEM151Bc.2106G>A (p.Ala702=)
c.577-3618C>T (n.577-3618C>T)
c.314-3618C>T
c.1815G>A (p.Ala605=)
n.2141G>A
c.816G>A (p.Ala272=)
c.946-138565C>T (n.946-138565C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303326G>ACA3834107AARS2,POLR1C,TMEM151Bc.2105C>T (p.Ala702Val)
c.577-3617G>A (n.577-3617G>A)
c.314-3617G>A
c.1814C>T (p.Ala605Val)
n.2140C>T
c.815C>T (p.Ala272Val)
c.946-138564G>A (n.946-138564G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303326G>CCA3834106AARS2,POLR1C,TMEM151Bc.2105C>G (p.Ala702Gly)
c.577-3617G>C (n.577-3617G>C)
c.314-3617G>C
c.1814C>G (p.Ala605Gly)
n.2140C>G
c.815C>G (p.Ala272Gly)
c.946-138564G>C (n.946-138564G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44303326G=CA1624924355AARS2,POLR1C,TMEM151Bc.2105C= (p.Ala702=)
c.577-3617G= (n.577-3617G=)
c.314-3617G=
c.1814C= (p.Ala605=)
n.2140C=
c.815C= (p.Ala272=)
c.946-138564G= (n.946-138564G=)
6g.44303326G>TCA364337586AARS2,POLR1C,TMEM151Bc.2105C>A (p.Ala702Glu)
c.577-3617G>T (n.577-3617G>T)
c.314-3617G>T
c.1814C>A (p.Ala605Glu)
n.2140C>A
c.815C>A (p.Ala272Glu)
c.946-138564G>T (n.946-138564G>T)
6g.44303326dupCA2678953673AARS2,POLR1C,TMEM151Bc.2105dup (p.Leu703AlafsTer13)
c.577-3617dup (n.577-3617dup)
c.314-3617dup
c.1814dup (p.Leu606AlafsTer13)
n.2140dup
c.815dup (p.Leu273AlafsTer13)
c.946-138564dup (n.946-138564dup)
 gnomAD v4
6g.44303327C>ACA364337587AARS2,POLR1C,TMEM151Bc.2104G>T (p.Ala702Ser)
c.577-3616C>A (n.577-3616C>A)
c.314-3616C>A
c.1813G>T (p.Ala605Ser)
n.2139G>T
c.814G>T (p.Ala272Ser)
c.946-138563C>A (n.946-138563C>A)
6g.44303327C>GCA364337588AARS2,POLR1C,TMEM151Bc.2104G>C (p.Ala702Pro)
c.577-3616C>G (n.577-3616C>G)
c.314-3616C>G
c.1813G>C (p.Ala605Pro)
n.2139G>C
c.814G>C (p.Ala272Pro)
c.946-138563C>G (n.946-138563C>G)
6g.44303327C>TCA364337589AARS2,POLR1C,TMEM151Bc.2104G>A (p.Ala702Thr)
c.577-3616C>T (n.577-3616C>T)
c.314-3616C>T
c.1813G>A (p.Ala605Thr)
n.2139G>A
c.814G>A (p.Ala272Thr)
c.946-138563C>T (n.946-138563C>T)
6g.44303328C>ACA450316256AARS2,POLR1C,TMEM151Bc.2103G>T (p.Leu701=)
c.577-3615C>A (n.577-3615C>A)
c.314-3615C>A
c.1812G>T (p.Leu604=)
n.2138G>T
c.813G>T (p.Leu271=)
c.946-138562C>A (n.946-138562C>A)
6g.44303328C>GCA450316257AARS2,POLR1C,TMEM151Bc.2103G>C (p.Leu701=)
c.577-3615C>G (n.577-3615C>G)
c.314-3615C>G
c.1812G>C (p.Leu604=)
n.2138G>C
c.813G>C (p.Leu271=)
c.946-138562C>G (n.946-138562C>G)
6g.44303328C>TCA450316258AARS2,POLR1C,TMEM151Bc.2103G>A (p.Leu701=)
c.577-3615C>T (n.577-3615C>T)
c.314-3615C>T
c.1812G>A (p.Leu604=)
n.2138G>A
c.813G>A (p.Leu271=)
c.946-138562C>T (n.946-138562C>T)
6g.44303329A>CCA364337590AARS2,POLR1C,TMEM151Bc.2102T>G (p.Leu701Arg)
c.577-3614A>C (n.577-3614A>C)
c.314-3614A>C
c.1811T>G (p.Leu604Arg)
n.2137T>G
c.812T>G (p.Leu271Arg)
c.946-138561A>C (n.946-138561A>C)
6g.44303329A>GCA364337591AARS2,POLR1C,TMEM151Bc.2102T>C (p.Leu701Pro)
c.577-3614A>G (n.577-3614A>G)
c.314-3614A>G
c.1811T>C (p.Leu604Pro)
n.2137T>C
c.812T>C (p.Leu271Pro)
c.946-138561A>G (n.946-138561A>G)
6g.44303329A>TCA364337592AARS2,POLR1C,TMEM151Bc.2102T>A (p.Leu701Gln)
c.577-3614A>T (n.577-3614A>T)
c.314-3614A>T
c.1811T>A (p.Leu604Gln)
n.2137T>A
c.812T>A (p.Leu271Gln)
c.946-138561A>T (n.946-138561A>T)
6g.44303330G>ACA450316259AARS2,POLR1C,TMEM151Bc.2101C>T (p.Leu701=)
c.577-3613G>A (n.577-3613G>A)
c.314-3613G>A
c.1810C>T (p.Leu604=)
n.2136C>T
c.811C>T (p.Leu271=)
c.946-138560G>A (n.946-138560G>A)
6g.44303330G>CCA364337593AARS2,POLR1C,TMEM151Bc.2101C>G (p.Leu701Val)
c.577-3613G>C (n.577-3613G>C)
c.314-3613G>C
c.1810C>G (p.Leu604Val)
n.2136C>G
c.811C>G (p.Leu271Val)
c.946-138560G>C (n.946-138560G>C)
6g.44303330G>TCA364337594AARS2,POLR1C,TMEM151Bc.2101C>A (p.Leu701Met)
c.577-3613G>T (n.577-3613G>T)
c.314-3613G>T
c.1810C>A (p.Leu604Met)
n.2136C>A
c.811C>A (p.Leu271Met)
c.946-138560G>T (n.946-138560G>T)
6g.44303331G>ACA450316265AARS2,POLR1C,TMEM151Bc.2100C>T (p.Pro700=)
c.577-3612G>A (n.577-3612G>A)
c.314-3612G>A
c.1809C>T (p.Pro603=)
n.2135C>T
c.810C>T (p.Pro270=)
c.946-138559G>A (n.946-138559G>A)
 COSMIC
6g.44303331G>CCA450316264AARS2,POLR1C,TMEM151Bc.2100C>G (p.Pro700=)
c.577-3612G>C (n.577-3612G>C)
c.314-3612G>C
c.1809C>G (p.Pro603=)
n.2135C>G
c.810C>G (p.Pro270=)
c.946-138559G>C (n.946-138559G>C)
6g.44303331G>TCA450316263AARS2,POLR1C,TMEM151Bc.2100C>A (p.Pro700=)
c.577-3612G>T (n.577-3612G>T)
c.314-3612G>T
c.1809C>A (p.Pro603=)
n.2135C>A
c.810C>A (p.Pro270=)
c.946-138559G>T (n.946-138559G>T)
6g.44303332G>ACA364337595AARS2,POLR1C,TMEM151Bc.2099C>T (p.Pro700Leu)
c.577-3611G>A (n.577-3611G>A)
c.314-3611G>A
c.1808C>T (p.Pro603Leu)
n.2134C>T
c.809C>T (p.Pro270Leu)
c.946-138558G>A (n.946-138558G>A)
 gnomAD v4
6g.44303332G>CCA364337596AARS2,POLR1C,TMEM151Bc.2099C>G (p.Pro700Arg)
c.577-3611G>C (n.577-3611G>C)
c.314-3611G>C
c.1808C>G (p.Pro603Arg)
n.2134C>G
c.809C>G (p.Pro270Arg)
c.946-138558G>C (n.946-138558G>C)
6g.44303332G>TCA364337597AARS2,POLR1C,TMEM151Bc.2099C>A (p.Pro700His)
c.577-3611G>T (n.577-3611G>T)
c.314-3611G>T
c.1808C>A (p.Pro603His)
n.2134C>A
c.809C>A (p.Pro270His)
c.946-138558G>T (n.946-138558G>T)
6g.44303333G>ACA364337599AARS2,POLR1C,TMEM151Bc.2098C>T (p.Pro700Ser)
c.577-3610G>A (n.577-3610G>A)
c.314-3610G>A
c.1807C>T (p.Pro603Ser)
n.2133C>T
c.808C>T (p.Pro270Ser)
c.946-138557G>A (n.946-138557G>A)
6g.44303333G>CCA364337598AARS2,POLR1C,TMEM151Bc.2098C>G (p.Pro700Ala)
c.577-3610G>C (n.577-3610G>C)
c.314-3610G>C
c.1807C>G (p.Pro603Ala)
n.2133C>G
c.808C>G (p.Pro270Ala)
c.946-138557G>C (n.946-138557G>C)
 gnomAD v4
6g.44303333G=CA1624924358AARS2,POLR1C,TMEM151Bc.2098C= (p.Pro700=)
c.577-3610G= (n.577-3610G=)
c.314-3610G=
c.1807C= (p.Pro603=)
n.2133C=
c.808C= (p.Pro270=)
c.946-138557G= (n.946-138557G=)
6g.44303333G>TCA138386067AARS2,POLR1C,TMEM151Bc.2098C>A (p.Pro700Thr)
c.577-3610G>T (n.577-3610G>T)
c.314-3610G>T
c.1807C>A (p.Pro603Thr)
n.2133C>A
c.808C>A (p.Pro270Thr)
c.946-138557G>T (n.946-138557G>T)
 dbSNP
6g.44303334C>ACA3834108AARS2,POLR1C,TMEM151Bc.2097G>T (p.Val699=)
c.577-3609C>A (n.577-3609C>A)
c.314-3609C>A
c.1806G>T (p.Val602=)
n.2132G>T
c.807G>T (p.Val269=)
c.946-138556C>A (n.946-138556C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303334C=CA1624924360AARS2,POLR1C,TMEM151Bc.2097G= (p.Val699=)
c.577-3609C= (n.577-3609C=)
c.314-3609C=
c.1806G= (p.Val602=)
n.2132G=
c.807G= (p.Val269=)
c.946-138556C= (n.946-138556C=)
6g.44303334C>GCA450316267AARS2,POLR1C,TMEM151Bc.2097G>C (p.Val699=)
c.577-3609C>G (n.577-3609C>G)
c.314-3609C>G
c.1806G>C (p.Val602=)
n.2132G>C
c.807G>C (p.Val269=)
c.946-138556C>G (n.946-138556C>G)
6g.44303334C>TCA450316268AARS2,POLR1C,TMEM151Bc.2097G>A (p.Val699=)
c.577-3609C>T (n.577-3609C>T)
c.314-3609C>T
c.1806G>A (p.Val602=)
n.2132G>A
c.807G>A (p.Val269=)
c.946-138556C>T (n.946-138556C>T)
6g.44303335A>CCA364337600AARS2,POLR1C,TMEM151Bc.2096T>G (p.Val699Gly)
c.577-3608A>C (n.577-3608A>C)
c.314-3608A>C
c.1805T>G (p.Val602Gly)
n.2131T>G
c.806T>G (p.Val269Gly)
c.946-138555A>C (n.946-138555A>C)
6g.44303335A>GCA364337601AARS2,POLR1C,TMEM151Bc.2096T>C (p.Val699Ala)
c.577-3608A>G (n.577-3608A>G)
c.314-3608A>G
c.1805T>C (p.Val602Ala)
n.2131T>C
c.806T>C (p.Val269Ala)
c.946-138555A>G (n.946-138555A>G)
6g.44303335A>TCA364337602AARS2,POLR1C,TMEM151Bc.2096T>A (p.Val699Glu)
c.577-3608A>T (n.577-3608A>T)
c.314-3608A>T
c.1805T>A (p.Val602Glu)
n.2131T>A
c.806T>A (p.Val269Glu)
c.946-138555A>T (n.946-138555A>T)
6g.44303336C>ACA364337603AARS2,POLR1C,TMEM151Bc.2095G>T (p.Val699Leu)
c.577-3607C>A (n.577-3607C>A)
c.314-3607C>A
c.1804G>T (p.Val602Leu)
n.2130G>T
c.805G>T (p.Val269Leu)
c.946-138554C>A (n.946-138554C>A)
 gnomAD v4
6g.44303336C>GCA364337604AARS2,POLR1C,TMEM151Bc.2095G>C (p.Val699Leu)
c.577-3607C>G (n.577-3607C>G)
c.314-3607C>G
c.1804G>C (p.Val602Leu)
n.2130G>C
c.805G>C (p.Val269Leu)
c.946-138554C>G (n.946-138554C>G)
6g.44303336C>TCA364337605AARS2,POLR1C,TMEM151Bc.2095G>A (p.Val699Met)
c.577-3607C>T (n.577-3607C>T)
c.314-3607C>T
c.1804G>A (p.Val602Met)
n.2130G>A
c.805G>A (p.Val269Met)
c.946-138554C>T (n.946-138554C>T)
6g.44303337C>ACA364337606AARS2,POLR1C,TMEM151Bc.2094G>T (p.Glu698Asp)
c.577-3606C>A (n.577-3606C>A)
c.314-3606C>A
c.1803G>T (p.Glu601Asp)
n.2129G>T
c.804G>T (p.Glu268Asp)
c.946-138553C>A (n.946-138553C>A)
6g.44303337C>GCA364337607AARS2,POLR1C,TMEM151Bc.2094G>C (p.Glu698Asp)
c.577-3606C>G (n.577-3606C>G)
c.314-3606C>G
c.1803G>C (p.Glu601Asp)
n.2129G>C
c.804G>C (p.Glu268Asp)
c.946-138553C>G (n.946-138553C>G)
 gnomAD v4
6g.44303337C>TCA450316270AARS2,POLR1C,TMEM151Bc.2094G>A (p.Glu698=)
c.577-3606C>T (n.577-3606C>T)
c.314-3606C>T
c.1803G>A (p.Glu601=)
n.2129G>A
c.804G>A (p.Glu268=)
c.946-138553C>T (n.946-138553C>T)
6g.44303338T>ACA364337608AARS2,POLR1C,TMEM151Bc.2093A>T (p.Glu698Val)
c.577-3605T>A (n.577-3605T>A)
c.314-3605T>A
c.1802A>T (p.Glu601Val)
n.2128A>T
c.803A>T (p.Glu268Val)
c.946-138552T>A (n.946-138552T>A)
6g.44303338T>CCA364337609AARS2,POLR1C,TMEM151Bc.2093A>G (p.Glu698Gly)
c.577-3605T>C (n.577-3605T>C)
c.314-3605T>C
c.1802A>G (p.Glu601Gly)
n.2128A>G
c.803A>G (p.Glu268Gly)
c.946-138552T>C (n.946-138552T>C)
6g.44303338T>GCA3834109AARS2,POLR1C,TMEM151Bc.2093A>C (p.Glu698Ala)
c.577-3605T>G (n.577-3605T>G)
c.314-3605T>G
c.1802A>C (p.Glu601Ala)
n.2128A>C
c.803A>C (p.Glu268Ala)
c.946-138552T>G (n.946-138552T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303338T=CA1624924364AARS2,POLR1C,TMEM151Bc.2093A= (p.Glu698=)
c.577-3605T= (n.577-3605T=)
c.314-3605T=
c.1802A= (p.Glu601=)
n.2128A=
c.803A= (p.Glu268=)
c.946-138552T= (n.946-138552T=)
6g.44303339C>ACA364337612AARS2,POLR1C,TMEM151Bc.2092G>T (p.Glu698Ter)
c.577-3604C>A (n.577-3604C>A)
c.314-3604C>A
c.1801G>T (p.Glu601Ter)
n.2127G>T
c.802G>T (p.Glu268Ter)
c.946-138551C>A (n.946-138551C>A)
6g.44303339C>GCA364337611AARS2,POLR1C,TMEM151Bc.2092G>C (p.Glu698Gln)
c.577-3604C>G (n.577-3604C>G)
c.314-3604C>G
c.1801G>C (p.Glu601Gln)
n.2127G>C
c.802G>C (p.Glu268Gln)
c.946-138551C>G (n.946-138551C>G)
 gnomAD v4
6g.44303339C>TCA364337610AARS2,POLR1C,TMEM151Bc.2092G>A (p.Glu698Lys)
c.577-3604C>T (n.577-3604C>T)
c.314-3604C>T
c.1801G>A (p.Glu601Lys)
n.2127G>A
c.802G>A (p.Glu268Lys)
c.946-138551C>T (n.946-138551C>T)
6g.44303340C>ACA364337613AARS2,POLR1C,TMEM151Bc.2091G>T (p.Glu697Asp)
c.577-3603C>A (n.577-3603C>A)
c.314-3603C>A
c.1800G>T (p.Glu600Asp)
n.2126G>T
c.801G>T (p.Glu267Asp)
c.946-138550C>A (n.946-138550C>A)
6g.44303340C>GCA364337614AARS2,POLR1C,TMEM151Bc.2091G>C (p.Glu697Asp)
c.577-3603C>G (n.577-3603C>G)
c.314-3603C>G
c.1800G>C (p.Glu600Asp)
n.2126G>C
c.801G>C (p.Glu267Asp)
c.946-138550C>G (n.946-138550C>G)
6g.44303340C>TCA450316273AARS2,POLR1C,TMEM151Bc.2091G>A (p.Glu697=)
c.577-3603C>T (n.577-3603C>T)
c.314-3603C>T
c.1800G>A (p.Glu600=)
n.2126G>A
c.801G>A (p.Glu267=)
c.946-138550C>T (n.946-138550C>T)
6g.44303341T>ACA364337615AARS2,POLR1C,TMEM151Bc.2090A>T (p.Glu697Val)
c.577-3602T>A (n.577-3602T>A)
c.314-3602T>A
c.1799A>T (p.Glu600Val)
n.2125A>T
c.800A>T (p.Glu267Val)
c.946-138549T>A (n.946-138549T>A)
6g.44303341T>CCA364337616AARS2,POLR1C,TMEM151Bc.2090A>G (p.Glu697Gly)
c.577-3602T>C (n.577-3602T>C)
c.314-3602T>C
c.1799A>G (p.Glu600Gly)
n.2125A>G
c.800A>G (p.Glu267Gly)
c.946-138549T>C (n.946-138549T>C)
6g.44303341T>GCA364337617AARS2,POLR1C,TMEM151Bc.2090A>C (p.Glu697Ala)
c.577-3602T>G (n.577-3602T>G)
c.314-3602T>G
c.1799A>C (p.Glu600Ala)
n.2125A>C
c.800A>C (p.Glu267Ala)
c.946-138549T>G (n.946-138549T>G)
6g.44303342C>ACA364337620AARS2,POLR1C,TMEM151Bc.2089G>T (p.Glu697Ter)
c.577-3601C>A (n.577-3601C>A)
c.314-3601C>A
c.1798G>T (p.Glu600Ter)
n.2124G>T
c.799G>T (p.Glu267Ter)
c.946-138548C>A (n.946-138548C>A)
6g.44303342C>GCA364337619AARS2,POLR1C,TMEM151Bc.2089G>C (p.Glu697Gln)
c.577-3601C>G (n.577-3601C>G)
c.314-3601C>G
c.1798G>C (p.Glu600Gln)
n.2124G>C
c.799G>C (p.Glu267Gln)
c.946-138548C>G (n.946-138548C>G)
6g.44303342C>TCA364337618AARS2,POLR1C,TMEM151Bc.2089G>A (p.Glu697Lys)
c.577-3601C>T (n.577-3601C>T)
c.314-3601C>T
c.1798G>A (p.Glu600Lys)
n.2124G>A
c.799G>A (p.Glu267Lys)
c.946-138548C>T (n.946-138548C>T)
6g.44303343C>ACA364337621AARS2,POLR1C,TMEM151Bc.2088G>T (p.Met696Ile)
c.577-3600C>A (n.577-3600C>A)
c.314-3600C>A
c.1797G>T (p.Met599Ile)
n.2123G>T
c.798G>T (p.Met266Ile)
c.946-138547C>A (n.946-138547C>A)
6g.44303343C=CA1624924367AARS2,POLR1C,TMEM151Bc.2088G= (p.Met696=)
c.577-3600C= (n.577-3600C=)
c.314-3600C=
c.1797G= (p.Met599=)
n.2123G=
c.798G= (p.Met266=)
c.946-138547C= (n.946-138547C=)
6g.44303343C>GCA364337622AARS2,POLR1C,TMEM151Bc.2088G>C (p.Met696Ile)
c.577-3600C>G (n.577-3600C>G)
c.314-3600C>G
c.1797G>C (p.Met599Ile)
n.2123G>C
c.798G>C (p.Met266Ile)
c.946-138547C>G (n.946-138547C>G)
6g.44303343C>TCA364337623AARS2,POLR1C,TMEM151Bc.2088G>A (p.Met696Ile)
c.577-3600C>T (n.577-3600C>T)
c.314-3600C>T
c.1797G>A (p.Met599Ile)
n.2123G>A
c.798G>A (p.Met266Ile)
c.946-138547C>T (n.946-138547C>T)
 dbSNP
6g.44303344A>CCA364337624AARS2,POLR1C,TMEM151Bc.2087T>G (p.Met696Arg)
c.577-3599A>C (n.577-3599A>C)
c.314-3599A>C
c.1796T>G (p.Met599Arg)
n.2122T>G
c.797T>G (p.Met266Arg)
c.946-138546A>C (n.946-138546A>C)
6g.44303344A>GCA364337625AARS2,POLR1C,TMEM151Bc.2087T>C (p.Met696Thr)
c.577-3599A>G (n.577-3599A>G)
c.314-3599A>G
c.1796T>C (p.Met599Thr)
n.2122T>C
c.797T>C (p.Met266Thr)
c.946-138546A>G (n.946-138546A>G)
6g.44303344A>TCA364337626AARS2,POLR1C,TMEM151Bc.2087T>A (p.Met696Lys)
c.577-3599A>T (n.577-3599A>T)
c.314-3599A>T
c.1796T>A (p.Met599Lys)
n.2122T>A
c.797T>A (p.Met266Lys)
c.946-138546A>T (n.946-138546A>T)
6g.44303345T>ACA364337627AARS2,POLR1C,TMEM151Bc.2086A>T (p.Met696Leu)
c.577-3598T>A (n.577-3598T>A)
c.314-3598T>A
c.1795A>T (p.Met599Leu)
n.2121A>T
c.796A>T (p.Met266Leu)
c.946-138545T>A (n.946-138545T>A)
 ClinVar dbSNP
6g.44303345T>CCA138386086AARS2,POLR1C,TMEM151Bc.2086A>G (p.Met696Val)
c.577-3598T>C (n.577-3598T>C)
c.314-3598T>C
c.1795A>G (p.Met599Val)
n.2121A>G
c.796A>G (p.Met266Val)
c.946-138545T>C (n.946-138545T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.44303345T>GCA364337628AARS2,POLR1C,TMEM151Bc.2086A>C (p.Met696Leu)
c.577-3598T>G (n.577-3598T>G)
c.314-3598T>G
c.1795A>C (p.Met599Leu)
n.2121A>C
c.796A>C (p.Met266Leu)
c.946-138545T>G (n.946-138545T>G)
6g.44303345T=CA1624924369AARS2,POLR1C,TMEM151Bc.2086A= (p.Met696=)
c.577-3598T= (n.577-3598T=)
c.314-3598T=
c.1795A= (p.Met599=)
n.2121A=
c.796A= (p.Met266=)
c.946-138545T= (n.946-138545T=)
6g.44303346G>ACA450316277AARS2,POLR1C,TMEM151Bc.2085C>T (p.Tyr695=)
c.577-3597G>A (n.577-3597G>A)
c.314-3597G>A
c.1794C>T (p.Tyr598=)
n.2120C>T
c.795C>T (p.Tyr265=)
c.946-138544G>A (n.946-138544G>A)
 gnomAD v4
6g.44303346G>CCA364337629AARS2,POLR1C,TMEM151Bc.2085C>G (p.Tyr695Ter)
c.577-3597G>C (n.577-3597G>C)
c.314-3597G>C
c.1794C>G (p.Tyr598Ter)
n.2120C>G
c.795C>G (p.Tyr265Ter)
c.946-138544G>C (n.946-138544G>C)
6g.44303346G=CA1624924372AARS2,POLR1C,TMEM151Bc.2085C= (p.Tyr695=)
c.577-3597G= (n.577-3597G=)
c.314-3597G=
c.1794C= (p.Tyr598=)
n.2120C=
c.795C= (p.Tyr265=)
c.946-138544G= (n.946-138544G=)
6g.44303346G>TCA364337630AARS2,POLR1C,TMEM151Bc.2085C>A (p.Tyr695Ter)
c.577-3597G>T (n.577-3597G>T)
c.314-3597G>T
c.1794C>A (p.Tyr598Ter)
n.2120C>A
c.795C>A (p.Tyr265Ter)
c.946-138544G>T (n.946-138544G>T)
 dbSNP gnomAD v4
6g.44303347T>ACA364337631AARS2,POLR1C,TMEM151Bc.2084A>T (p.Tyr695Phe)
c.577-3596T>A (n.577-3596T>A)
c.314-3596T>A
c.1793A>T (p.Tyr598Phe)
n.2119A>T
c.794A>T (p.Tyr265Phe)
c.946-138543T>A (n.946-138543T>A)
6g.44303347T>CCA364337632AARS2,POLR1C,TMEM151Bc.2084A>G (p.Tyr695Cys)
c.577-3596T>C (n.577-3596T>C)
c.314-3596T>C
c.1793A>G (p.Tyr598Cys)
n.2119A>G
c.794A>G (p.Tyr265Cys)
c.946-138543T>C (n.946-138543T>C)
 gnomAD v4
6g.44303347T>GCA3834110AARS2,POLR1C,TMEM151Bc.2084A>C (p.Tyr695Ser)
c.577-3596T>G (n.577-3596T>G)
c.314-3596T>G
c.1793A>C (p.Tyr598Ser)
n.2119A>C
c.794A>C (p.Tyr265Ser)
c.946-138543T>G (n.946-138543T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44303347T=CA1624924374AARS2,POLR1C,TMEM151Bc.2084A= (p.Tyr695=)
c.577-3596T= (n.577-3596T=)
c.314-3596T=
c.1793A= (p.Tyr598=)
n.2119A=
c.794A= (p.Tyr265=)
c.946-138543T= (n.946-138543T=)
6g.44303348A=CA1624924376AARS2,POLR1C,TMEM151Bc.2083T= (p.Tyr695=)
c.577-3595A= (n.577-3595A=)
c.314-3595A=
c.1792T= (p.Tyr598=)
n.2118T=
c.793T= (p.Tyr265=)
c.946-138542A= (n.946-138542A=)
6g.44303348A>CCA3834111AARS2,POLR1C,TMEM151Bc.2083T>G (p.Tyr695Asp)
c.577-3595A>C (n.577-3595A>C)
c.314-3595A>C
c.1792T>G (p.Tyr598Asp)
n.2118T>G
c.793T>G (p.Tyr265Asp)
c.946-138542A>C (n.946-138542A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44303348A>GCA364337633AARS2,POLR1C,TMEM151Bc.2083T>C (p.Tyr695His)
c.577-3595A>G (n.577-3595A>G)
c.314-3595A>G
c.1792T>C (p.Tyr598His)
n.2118T>C
c.793T>C (p.Tyr265His)
c.946-138542A>G (n.946-138542A>G)
6g.44303348A>TCA364337634AARS2,POLR1C,TMEM151Bc.2083T>A (p.Tyr695Asn)
c.577-3595A>T (n.577-3595A>T)
c.314-3595A>T
c.1792T>A (p.Tyr598Asn)
n.2118T>A
c.793T>A (p.Tyr265Asn)
c.946-138542A>T (n.946-138542A>T)
6g.44303351_44303352delCA2578633237AARS2,POLR1C,TMEM151Bc.2082_2083del (p.Tyr695HisfsTer20)
c.577-3592_577-3591del (n.577-3592_577-3591del)
c.314-3592_314-3591del
c.1791_1792del (p.Tyr598HisfsTer20)
n.2117_2118del
c.792_793del (p.Tyr265HisfsTer20)
c.946-138539_946-138538del (n.946-138539_946-138538del)
6g.44303349C>ACA450316280AARS2,POLR1C,TMEM151Bc.2082G>T (p.Val694=)
c.577-3594C>A (n.577-3594C>A)
c.314-3594C>A
c.1791G>T (p.Val597=)
n.2117G>T
c.792G>T (p.Val264=)
c.946-138541C>A (n.946-138541C>A)
6g.44303349C>GCA450316281AARS2,POLR1C,TMEM151Bc.2082G>C (p.Val694=)
c.577-3594C>G (n.577-3594C>G)
c.314-3594C>G
c.1791G>C (p.Val597=)
n.2117G>C
c.792G>C (p.Val264=)
c.946-138541C>G (n.946-138541C>G)
6g.44303349C>TCA450316283AARS2,POLR1C,TMEM151Bc.2082G>A (p.Val694=)
c.577-3594C>T (n.577-3594C>T)
c.314-3594C>T
c.1791G>A (p.Val597=)
n.2117G>A
c.792G>A (p.Val264=)
c.946-138541C>T (n.946-138541C>T)
 gnomAD v4
6g.44303350A>CCA364337635AARS2,POLR1C,TMEM151Bc.2081T>G (p.Val694Gly)
c.577-3593A>C (n.577-3593A>C)
c.314-3593A>C
c.1790T>G (p.Val597Gly)
n.2116T>G
c.791T>G (p.Val264Gly)
c.946-138540A>C (n.946-138540A>C)
6g.44303350A>GCA364337636AARS2,POLR1C,TMEM151Bc.2081T>C (p.Val694Ala)
c.577-3593A>G (n.577-3593A>G)
c.314-3593A>G
c.1790T>C (p.Val597Ala)
n.2116T>C
c.791T>C (p.Val264Ala)
c.946-138540A>G (n.946-138540A>G)
 gnomAD v4
6g.44303350A>TCA364337637AARS2,POLR1C,TMEM151Bc.2081T>A (p.Val694Glu)
c.577-3593A>T (n.577-3593A>T)
c.314-3593A>T
c.1790T>A (p.Val597Glu)
n.2116T>A
c.791T>A (p.Val264Glu)
c.946-138540A>T (n.946-138540A>T)
6g.44303351C>ACA364337638AARS2,POLR1C,TMEM151Bc.2080G>T (p.Val694Leu)
c.577-3592C>A (n.577-3592C>A)
c.314-3592C>A
c.1789G>T (p.Val597Leu)
n.2115G>T
c.790G>T (p.Val264Leu)
c.946-138539C>A (n.946-138539C>A)
6g.44303351C=CA1624924378AARS2,POLR1C,TMEM151Bc.2080G= (p.Val694=)
c.577-3592C= (n.577-3592C=)
c.314-3592C=
c.1789G= (p.Val597=)
n.2115G=
c.790G= (p.Val264=)
c.946-138539C= (n.946-138539C=)
6g.44303351C>GCA364337639AARS2,POLR1C,TMEM151Bc.2080G>C (p.Val694Leu)
c.577-3592C>G (n.577-3592C>G)
c.314-3592C>G
c.1789G>C (p.Val597Leu)
n.2115G>C
c.790G>C (p.Val264Leu)
c.946-138539C>G (n.946-138539C>G)
6g.44303351C>TCA3834112AARS2,POLR1C,TMEM151Bc.2080G>A (p.Val694Met)
c.577-3592C>T (n.577-3592C>T)
c.314-3592C>T
c.1789G>A (p.Val597Met)
n.2115G>A
c.790G>A (p.Val264Met)
c.946-138539C>T (n.946-138539C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303352A=CA1624924380AARS2,POLR1C,TMEM151Bc.2079T= (p.Ala693=)
c.577-3591A= (n.577-3591A=)
c.314-3591A=
c.1788T= (p.Ala596=)
n.2114T=
c.789T= (p.Ala263=)
c.946-138538A= (n.946-138538A=)
6g.44303352A>CCA450316286AARS2,POLR1C,TMEM151Bc.2079T>G (p.Ala693=)
c.577-3591A>C (n.577-3591A>C)
c.314-3591A>C
c.1788T>G (p.Ala596=)
n.2114T>G
c.789T>G (p.Ala263=)
c.946-138538A>C (n.946-138538A>C)
6g.44303352A>GCA450316285AARS2,POLR1C,TMEM151Bc.2079T>C (p.Ala693=)
c.577-3591A>G (n.577-3591A>G)
c.314-3591A>G
c.1788T>C (p.Ala596=)
n.2114T>C
c.789T>C (p.Ala263=)
c.946-138538A>G (n.946-138538A>G)
 dbSNP
6g.44303352A>TCA138386114AARS2,POLR1C,TMEM151Bc.2079T>A (p.Ala693=)
c.577-3591A>T (n.577-3591A>T)
c.314-3591A>T
c.1788T>A (p.Ala596=)
n.2114T>A
c.789T>A (p.Ala263=)
c.946-138538A>T (n.946-138538A>T)
 dbSNP gnomAD v2
6g.44303353G>ACA364337640AARS2,POLR1C,TMEM151Bc.2078C>T (p.Ala693Val)
c.577-3590G>A (n.577-3590G>A)
c.314-3590G>A
c.1787C>T (p.Ala596Val)
n.2113C>T
c.788C>T (p.Ala263Val)
c.946-138537G>A (n.946-138537G>A)
 gnomAD v4
6g.44303353G>CCA364337642AARS2,POLR1C,TMEM151Bc.2078C>G (p.Ala693Gly)
c.577-3590G>C (n.577-3590G>C)
c.314-3590G>C
c.1787C>G (p.Ala596Gly)
n.2113C>G
c.788C>G (p.Ala263Gly)
c.946-138537G>C (n.946-138537G>C)
 dbSNP gnomAD v3 gnomAD v4
6g.44303353G=CA1624924382AARS2,POLR1C,TMEM151Bc.2078C= (p.Ala693=)
c.577-3590G= (n.577-3590G=)
c.314-3590G=
c.1787C= (p.Ala596=)
n.2113C=
c.788C= (p.Ala263=)
c.946-138537G= (n.946-138537G=)
6g.44303353G>TCA364337641AARS2,POLR1C,TMEM151Bc.2078C>A (p.Ala693Asp)
c.577-3590G>T (n.577-3590G>T)
c.314-3590G>T
c.1787C>A (p.Ala596Asp)
n.2113C>A
c.788C>A (p.Ala263Asp)
c.946-138537G>T (n.946-138537G>T)
6g.44303354C>ACA364337643AARS2,POLR1C,TMEM151Bc.2077G>T (p.Ala693Ser)
c.577-3589C>A (n.577-3589C>A)
c.314-3589C>A
c.1786G>T (p.Ala596Ser)
n.2112G>T
c.787G>T (p.Ala263Ser)
c.946-138536C>A (n.946-138536C>A)
 gnomAD v4
6g.44303354C>GCA364337645AARS2,POLR1C,TMEM151Bc.2077G>C (p.Ala693Pro)
c.577-3589C>G (n.577-3589C>G)
c.314-3589C>G
c.1786G>C (p.Ala596Pro)
n.2112G>C
c.787G>C (p.Ala263Pro)
c.946-138536C>G (n.946-138536C>G)
6g.44303354C>TCA364337644AARS2,POLR1C,TMEM151Bc.2077G>A (p.Ala693Thr)
c.577-3589C>T (n.577-3589C>T)
c.314-3589C>T
c.1786G>A (p.Ala596Thr)
n.2112G>A
c.787G>A (p.Ala263Thr)
c.946-138536C>T (n.946-138536C>T)
 gnomAD v4
6g.44303355C>ACA364337646AARS2,POLR1C,TMEM151Bc.2076G>T (p.Glu692Asp)
c.577-3588C>A (n.577-3588C>A)
c.314-3588C>A
c.1785G>T (p.Glu595Asp)
n.2111G>T
c.786G>T (p.Glu262Asp)
c.946-138535C>A (n.946-138535C>A)
6g.44303355C>GCA364337647AARS2,POLR1C,TMEM151Bc.2076G>C (p.Glu692Asp)
c.577-3588C>G (n.577-3588C>G)
c.314-3588C>G
c.1785G>C (p.Glu595Asp)
n.2111G>C
c.786G>C (p.Glu262Asp)
c.946-138535C>G (n.946-138535C>G)
6g.44303355C>TCA450316288AARS2,POLR1C,TMEM151Bc.2076G>A (p.Glu692=)
c.577-3588C>T (n.577-3588C>T)
c.314-3588C>T
c.1785G>A (p.Glu595=)
n.2111G>A
c.786G>A (p.Glu262=)
c.946-138535C>T (n.946-138535C>T)
 gnomAD v4
6g.44303356T>ACA364337648AARS2,POLR1C,TMEM151Bc.2075A>T (p.Glu692Val)
c.577-3587T>A (n.577-3587T>A)
c.314-3587T>A
c.1784A>T (p.Glu595Val)
n.2110A>T
c.785A>T (p.Glu262Val)
c.946-138534T>A (n.946-138534T>A)
6g.44303356T>CCA364337649AARS2,POLR1C,TMEM151Bc.2075A>G (p.Glu692Gly)
c.577-3587T>C (n.577-3587T>C)
c.314-3587T>C
c.1784A>G (p.Glu595Gly)
n.2110A>G
c.785A>G (p.Glu262Gly)
c.946-138534T>C (n.946-138534T>C)
6g.44303356T>GCA364337650AARS2,POLR1C,TMEM151Bc.2075A>C (p.Glu692Ala)
c.577-3587T>G (n.577-3587T>G)
c.314-3587T>G
c.1784A>C (p.Glu595Ala)
n.2110A>C
c.785A>C (p.Glu262Ala)
c.946-138534T>G (n.946-138534T>G)
 dbSNP
6g.44303356T=CA1624924383AARS2,POLR1C,TMEM151Bc.2075A= (p.Glu692=)
c.577-3587T= (n.577-3587T=)
c.314-3587T=
c.1784A= (p.Glu595=)
n.2110A=
c.785A= (p.Glu262=)
c.946-138534T= (n.946-138534T=)
6g.44303356_44303359delCA2678953722AARS2,POLR1C,TMEM151Bc.2072_2075del (p.Asp691GlyfsTer?)
c.577-3587_577-3584del (n.577-3587_577-3584del)
c.314-3587_314-3584del
c.1781_1784del (p.Asp594GlyfsTer?)
n.2107_2110del
c.782_785del (p.Asp261GlyfsTer?)
c.946-138534_946-138531del (n.946-138534_946-138531del)
 gnomAD v4
6g.44303357C>ACA364337651AARS2,POLR1C,TMEM151Bc.2074G>T (p.Glu692Ter)
c.577-3586C>A (n.577-3586C>A)
c.314-3586C>A
c.1783G>T (p.Glu595Ter)
n.2109G>T
c.784G>T (p.Glu262Ter)
c.946-138533C>A (n.946-138533C>A)
 COSMIC
6g.44303357C=CA1624924385AARS2,POLR1C,TMEM151Bc.2074G= (p.Glu692=)
c.577-3586C= (n.577-3586C=)
c.314-3586C=
c.1783G= (p.Glu595=)
n.2109G=
c.784G= (p.Glu262=)
c.946-138533C= (n.946-138533C=)
6g.44303357C>GCA364337652AARS2,POLR1C,TMEM151Bc.2074G>C (p.Glu692Gln)
c.577-3586C>G (n.577-3586C>G)
c.314-3586C>G
c.1783G>C (p.Glu595Gln)
n.2109G>C
c.784G>C (p.Glu262Gln)
c.946-138533C>G (n.946-138533C>G)
6g.44303357C>TCA364337653AARS2,POLR1C,TMEM151Bc.2074G>A (p.Glu692Lys)
c.577-3586C>T (n.577-3586C>T)
c.314-3586C>T
c.1783G>A (p.Glu595Lys)
n.2109G>A
c.784G>A (p.Glu262Lys)
c.946-138533C>T (n.946-138533C>T)
 dbSNP gnomAD v4
6g.44303358A>CCA364337654AARS2,POLR1C,TMEM151Bc.2073T>G (p.Asp691Glu)
c.577-3585A>C (n.577-3585A>C)
c.314-3585A>C
c.1782T>G (p.Asp594Glu)
n.2108T>G
c.783T>G (p.Asp261Glu)
c.946-138532A>C (n.946-138532A>C)
6g.44303358A>GCA450316292AARS2,POLR1C,TMEM151Bc.2073T>C (p.Asp691=)
c.577-3585A>G (n.577-3585A>G)
c.314-3585A>G
c.1782T>C (p.Asp594=)
n.2108T>C
c.783T>C (p.Asp261=)
c.946-138532A>G (n.946-138532A>G)
6g.44303358A>TCA364337655AARS2,POLR1C,TMEM151Bc.2073T>A (p.Asp691Glu)
c.577-3585A>T (n.577-3585A>T)
c.314-3585A>T
c.1782T>A (p.Asp594Glu)
n.2108T>A
c.783T>A (p.Asp261Glu)
c.946-138532A>T (n.946-138532A>T)
6g.44303359T>ACA364337658AARS2,POLR1C,TMEM151Bc.2072A>T (p.Asp691Val)
c.577-3584T>A (n.577-3584T>A)
c.314-3584T>A
c.1781A>T (p.Asp594Val)
n.2107A>T
c.782A>T (p.Asp261Val)
c.946-138531T>A (n.946-138531T>A)
6g.44303359T>CCA364337657AARS2,POLR1C,TMEM151Bc.2072A>G (p.Asp691Gly)
c.577-3584T>C (n.577-3584T>C)
c.314-3584T>C
c.1781A>G (p.Asp594Gly)
n.2107A>G
c.782A>G (p.Asp261Gly)
c.946-138531T>C (n.946-138531T>C)
6g.44303359T>GCA364337656AARS2,POLR1C,TMEM151Bc.2072A>C (p.Asp691Ala)
c.577-3584T>G (n.577-3584T>G)
c.314-3584T>G
c.1781A>C (p.Asp594Ala)
n.2107A>C
c.782A>C (p.Asp261Ala)
c.946-138531T>G (n.946-138531T>G)
6g.44303360C>ACA364337659AARS2,POLR1C,TMEM151Bc.2071G>T (p.Asp691Tyr)
c.577-3583C>A (n.577-3583C>A)
c.314-3583C>A
c.1780G>T (p.Asp594Tyr)
n.2106G>T
c.781G>T (p.Asp261Tyr)
c.946-138530C>A (n.946-138530C>A)
6g.44303360C>GCA364337660AARS2,POLR1C,TMEM151Bc.2071G>C (p.Asp691His)
c.577-3583C>G (n.577-3583C>G)
c.314-3583C>G
c.1780G>C (p.Asp594His)
n.2106G>C
c.781G>C (p.Asp261His)
c.946-138530C>G (n.946-138530C>G)
6g.44303360C>TCA364337661AARS2,POLR1C,TMEM151Bc.2071G>A (p.Asp691Asn)
c.577-3583C>T (n.577-3583C>T)
c.314-3583C>T
c.1780G>A (p.Asp594Asn)
n.2106G>A
c.781G>A (p.Asp261Asn)
c.946-138530C>T (n.946-138530C>T)
6g.44303361C>ACA364337662AARS2,POLR1C,TMEM151Bc.2070G>T (p.Gln690His)
c.577-3582C>A (n.577-3582C>A)
c.314-3582C>A
c.1779G>T (p.Gln593His)
n.2105G>T
c.780G>T (p.Gln260His)
c.946-138529C>A (n.946-138529C>A)
6g.44303361C>GCA364337663AARS2,POLR1C,TMEM151Bc.2070G>C (p.Gln690His)
c.577-3582C>G (n.577-3582C>G)
c.314-3582C>G
c.1779G>C (p.Gln593His)
n.2105G>C
c.780G>C (p.Gln260His)
c.946-138529C>G (n.946-138529C>G)
6g.44303361C>TCA450316294AARS2,POLR1C,TMEM151Bc.2070G>A (p.Gln690=)
c.577-3582C>T (n.577-3582C>T)
c.314-3582C>T
c.1779G>A (p.Gln593=)
n.2105G>A
c.780G>A (p.Gln260=)
c.946-138529C>T (n.946-138529C>T)
6g.44303362T>ACA364337664AARS2,POLR1C,TMEM151Bc.2069A>T (p.Gln690Leu)
c.577-3581T>A (n.577-3581T>A)
c.314-3581T>A
c.1778A>T (p.Gln593Leu)
n.2104A>T
c.779A>T (p.Gln260Leu)
c.946-138528T>A (n.946-138528T>A)
6g.44303362T>CCA364337665AARS2,POLR1C,TMEM151Bc.2069A>G (p.Gln690Arg)
c.577-3581T>C (n.577-3581T>C)
c.314-3581T>C
c.1778A>G (p.Gln593Arg)
n.2104A>G
c.779A>G (p.Gln260Arg)
c.946-138528T>C (n.946-138528T>C)
6g.44303362T>GCA364337666AARS2,POLR1C,TMEM151Bc.2069A>C (p.Gln690Pro)
c.577-3581T>G (n.577-3581T>G)
c.314-3581T>G
c.1778A>C (p.Gln593Pro)
n.2104A>C
c.779A>C (p.Gln260Pro)
c.946-138528T>G (n.946-138528T>G)
6g.44303363G>ACA364337667AARS2,POLR1C,TMEM151Bc.2068C>T (p.Gln690Ter)
c.577-3580G>A (n.577-3580G>A)
c.314-3580G>A
c.1777C>T (p.Gln593Ter)
n.2103C>T
c.778C>T (p.Gln260Ter)
c.946-138527G>A (n.946-138527G>A)
 gnomAD v4
6g.44303363G>CCA364337668AARS2,POLR1C,TMEM151Bc.2068C>G (p.Gln690Glu)
c.577-3580G>C (n.577-3580G>C)
c.314-3580G>C
c.1777C>G (p.Gln593Glu)
n.2103C>G
c.778C>G (p.Gln260Glu)
c.946-138527G>C (n.946-138527G>C)
6g.44303363G=CA1624924388AARS2,POLR1C,TMEM151Bc.2068C= (p.Gln690=)
c.577-3580G= (n.577-3580G=)
c.314-3580G=
c.1777C= (p.Gln593=)
n.2103C=
c.778C= (p.Gln260=)
c.946-138527G= (n.946-138527G=)
6g.44303363G>TCA364337669AARS2,POLR1C,TMEM151Bc.2068C>A (p.Gln690Lys)
c.577-3580G>T (n.577-3580G>T)
c.314-3580G>T
c.1777C>A (p.Gln593Lys)
n.2103C>A
c.778C>A (p.Gln260Lys)
c.946-138527G>T (n.946-138527G>T)
6g.44303364C>ACA450316299AARS2,POLR1C,TMEM151Bc.2067G>T (p.Gly689=)
c.577-3579C>A (n.577-3579C>A)
c.314-3579C>A
c.1776G>T (p.Gly592=)
n.2102G>T
c.777G>T (p.Gly259=)
c.946-138526C>A (n.946-138526C>A)
6g.44303364C>GCA450316300AARS2,POLR1C,TMEM151Bc.2067G>C (p.Gly689=)
c.577-3579C>G (n.577-3579C>G)
c.314-3579C>G
c.1776G>C (p.Gly592=)
n.2102G>C
c.777G>C (p.Gly259=)
c.946-138526C>G (n.946-138526C>G)
6g.44303364C>TCA450316301AARS2,POLR1C,TMEM151Bc.2067G>A (p.Gly689=)
c.577-3579C>T (n.577-3579C>T)
c.314-3579C>T
c.1776G>A (p.Gly592=)
n.2102G>A
c.777G>A (p.Gly259=)
c.946-138526C>T (n.946-138526C>T)
6g.44303367dupCA824986000AARS2,POLR1C,TMEM151Bc.2067dup (p.Gln690AlafsTer3)
c.577-3576dup (n.577-3576dup)
c.314-3576dup
c.1776dup (p.Gln593AlafsTer3)
n.2102dup
c.777dup (p.Gln260AlafsTer3)
c.946-138523dup (n.946-138523dup)
 dbSNP gnomAD v3 gnomAD v4
6g.44303364_44303365insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCA2678953729AARS2,POLR1C,TMEM151Bc.2066_2067insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln690AlafsTer?)
c.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG (n.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG)
c.314-3579_314-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG
c.1775_1776insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln593AlafsTer?)
n.2101_2102insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA
c.776_777insCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln260AlafsTer?)
c.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG (n.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCG)
 gnomAD v4
6g.44303364_44303365insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCA2678953730AARS2,POLR1C,TMEM151Bc.2066_2067insCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln690SerfsTer?)
c.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTG (n.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTG)
c.314-3579_314-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTG
c.1775_1776insCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln593SerfsTer?)
n.2101_2102insCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA
c.776_777insCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln260SerfsTer?)
c.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTG (n.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTG)
 gnomAD v4
6g.44303364_44303365insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCA2678953732AARS2,POLR1C,TMEM151Bc.2066_2067insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln690CysfsTer?)
c.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG (n.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG)
c.314-3579_314-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG
c.1775_1776insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln593CysfsTer?)
n.2101_2102insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA
c.776_777insCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln260CysfsTer?)
c.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG (n.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAG)
 gnomAD v4
6g.44303364_44303365insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCTCA2678953735AARS2,POLR1C,TMEM151Bc.2066_2067insAGCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln690AlafsTer10)
c.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCT (n.577-3579_577-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCT)
c.314-3579_314-3578insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCT
c.1775_1776insAGCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln593AlafsTer10)
n.2101_2102insAGCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA
c.776_777insAGCTGCAGCGCCAAGGAGTGCCCCCAACTGACGACAGCCCCAA (p.Gln260AlafsTer10)
c.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCT (n.946-138526_946-138525insTTGGGGCTGTCGTCAGTTGGGGGCACTCCTTGGCGCTGCAGCT)
 gnomAD v4
6g.44303365C>ACA364337671AARS2,POLR1C,TMEM151Bc.2066G>T (p.Gly689Val)
c.577-3578C>A (n.577-3578C>A)
c.314-3578C>A
c.1775G>T (p.Gly592Val)
n.2101G>T
c.776G>T (p.Gly259Val)
c.946-138525C>A (n.946-138525C>A)
6g.44303365C>GCA364337672AARS2,POLR1C,TMEM151Bc.2066G>C (p.Gly689Ala)
c.577-3578C>G (n.577-3578C>G)
c.314-3578C>G
c.1775G>C (p.Gly592Ala)
n.2101G>C
c.776G>C (p.Gly259Ala)
c.946-138525C>G (n.946-138525C>G)
6g.44303365C>TCA364337670AARS2,POLR1C,TMEM151Bc.2066G>A (p.Gly689Glu)
c.577-3578C>T (n.577-3578C>T)
c.314-3578C>T
c.1775G>A (p.Gly592Glu)
n.2101G>A
c.776G>A (p.Gly259Glu)
c.946-138525C>T (n.946-138525C>T)
6g.44303366C>ACA364337673AARS2,POLR1C,TMEM151Bc.2065G>T (p.Gly689Trp)
c.577-3577C>A (n.577-3577C>A)
c.314-3577C>A
c.1774G>T (p.Gly592Trp)
n.2100G>T
c.775G>T (p.Gly259Trp)
c.946-138524C>A (n.946-138524C>A)
6g.44303366C=CA1624924393AARS2,POLR1C,TMEM151Bc.2065G= (p.Gly689=)
c.577-3577C= (n.577-3577C=)
c.314-3577C=
c.1774G= (p.Gly592=)
n.2100G=
c.775G= (p.Gly259=)
c.946-138524C= (n.946-138524C=)
6g.44303366C>GCA364337674AARS2,POLR1C,TMEM151Bc.2065G>C (p.Gly689Arg)
c.577-3577C>G (n.577-3577C>G)
c.314-3577C>G
c.1774G>C (p.Gly592Arg)
n.2100G>C
c.775G>C (p.Gly259Arg)
c.946-138524C>G (n.946-138524C>G)
6g.44303366C>TCA364337675AARS2,POLR1C,TMEM151Bc.2065G>A (p.Gly689Arg)
c.577-3577C>T (n.577-3577C>T)
c.314-3577C>T
c.1774G>A (p.Gly592Arg)
n.2100G>A
c.775G>A (p.Gly259Arg)
c.946-138524C>T (n.946-138524C>T)
 dbSNP gnomAD v2
6g.44303367C>ACA450316305AARS2,POLR1C,TMEM151Bc.2064G>T (p.Val688=)
c.577-3576C>A (n.577-3576C>A)
c.314-3576C>A
c.1773G>T (p.Val591=)
n.2099G>T
c.774G>T (p.Val258=)
c.946-138523C>A (n.946-138523C>A)
6g.44303367C=CA1624924397AARS2,POLR1C,TMEM151Bc.2064G= (p.Val688=)
c.577-3576C= (n.577-3576C=)
c.314-3576C=
c.1773G= (p.Val591=)
n.2099G=
c.774G= (p.Val258=)
c.946-138523C= (n.946-138523C=)
6g.44303367C>GCA450316306AARS2,POLR1C,TMEM151Bc.2064G>C (p.Val688=)
c.577-3576C>G (n.577-3576C>G)
c.314-3576C>G
c.1773G>C (p.Val591=)
n.2099G>C
c.774G>C (p.Val258=)
c.946-138523C>G (n.946-138523C>G)
6g.44303367C>TCA450316307AARS2,POLR1C,TMEM151Bc.2064G>A (p.Val688=)
c.577-3576C>T (n.577-3576C>T)
c.314-3576C>T
c.1773G>A (p.Val591=)
n.2099G>A
c.774G>A (p.Val258=)
c.946-138523C>T (n.946-138523C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.44303368_44303369dupCA2678953739AARS2,POLR1C,TMEM151Bc.2063_2064dup (p.Gly689TrpfsTer?)
c.577-3575_577-3574dup (n.577-3575_577-3574dup)
c.314-3575_314-3574dup
c.1772_1773dup (p.Gly592TrpfsTer?)
n.2098_2099dup
c.773_774dup (p.Gly259TrpfsTer?)
c.946-138522_946-138521dup (n.946-138522_946-138521dup)
 gnomAD v4
6g.44303368A>CCA364337676AARS2,POLR1C,TMEM151Bc.2063T>G (p.Val688Gly)
c.577-3575A>C (n.577-3575A>C)
c.314-3575A>C
c.1772T>G (p.Val591Gly)
n.2098T>G
c.773T>G (p.Val258Gly)
c.946-138522A>C (n.946-138522A>C)
6g.44303368A>GCA364337677AARS2,POLR1C,TMEM151Bc.2063T>C (p.Val688Ala)
c.577-3575A>G (n.577-3575A>G)
c.314-3575A>G
c.1772T>C (p.Val591Ala)
n.2098T>C
c.773T>C (p.Val258Ala)
c.946-138522A>G (n.946-138522A>G)
6g.44303368A>TCA364337678AARS2,POLR1C,TMEM151Bc.2063T>A (p.Val688Glu)
c.577-3575A>T (n.577-3575A>T)
c.314-3575A>T
c.1772T>A (p.Val591Glu)
n.2098T>A
c.773T>A (p.Val258Glu)
c.946-138522A>T (n.946-138522A>T)
6g.44303369C>ACA364337679AARS2,POLR1C,TMEM151Bc.2062G>T (p.Val688Leu)
c.577-3574C>A (n.577-3574C>A)
c.314-3574C>A
c.1771G>T (p.Val591Leu)
n.2097G>T
c.772G>T (p.Val258Leu)
c.946-138521C>A (n.946-138521C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.44303369C=CA1624924400AARS2,POLR1C,TMEM151Bc.2062G= (p.Val688=)
c.577-3574C= (n.577-3574C=)
c.314-3574C=
c.1771G= (p.Val591=)
n.2097G=
c.772G= (p.Val258=)
c.946-138521C= (n.946-138521C=)
6g.44303369C>GCA364337680AARS2,POLR1C,TMEM151Bc.2062G>C (p.Val688Leu)
c.577-3574C>G (n.577-3574C>G)
c.314-3574C>G
c.1771G>C (p.Val591Leu)
n.2097G>C
c.772G>C (p.Val258Leu)
c.946-138521C>G (n.946-138521C>G)
6g.44303369C>TCA3834113AARS2,POLR1C,TMEM151Bc.2062G>A (p.Val688Met)
c.577-3574C>T (n.577-3574C>T)
c.314-3574C>T
c.1771G>A (p.Val591Met)
n.2097G>A
c.772G>A (p.Val258Met)
c.946-138521C>T (n.946-138521C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.44303370G>ACA450316309AARS2,POLR1C,TMEM151Bc.2061C>T (p.Ala687=)
c.577-3573G>A (n.577-3573G>A)
c.314-3573G>A
c.1770C>T (p.Ala590=)
n.2096C>T
c.771C>T (p.Ala257=)
c.946-138520G>A (n.946-138520G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.44303370G>CCA450316310AARS2,POLR1C,TMEM151Bc.2061C>G (p.Ala687=)
c.577-3573G>C (n.577-3573G>C)
c.314-3573G>C
c.1770C>G (p.Ala590=)
n.2096C>G
c.771C>G (p.Ala257=)
c.946-138520G>C (n.946-138520G>C)
6g.44303370G=CA1624924406AARS2,POLR1C,TMEM151Bc.2061C= (p.Ala687=)
c.577-3573G= (n.577-3573G=)
c.314-3573G=
c.1770C= (p.Ala590=)
n.2096C=
c.771C= (p.Ala257=)
c.946-138520G= (n.946-138520G=)
6g.44303370G>TCA450316311AARS2,POLR1C,TMEM151Bc.2061C>A (p.Ala687=)
c.577-3573G>T (n.577-3573G>T)
c.314-3573G>T
c.1770C>A (p.Ala590=)
n.2096C>A
c.771C>A (p.Ala257=)
c.946-138520G>T (n.946-138520G>T)
6g.44303371G>ACA364337681AARS2,POLR1C,TMEM151Bc.2060C>T (p.Ala687Val)
c.577-3572G>A (n.577-3572G>A)
c.314-3572G>A
c.1769C>T (p.Ala590Val)
n.2095C>T
c.770C>T (p.Ala257Val)
c.946-138519G>A (n.946-138519G>A)
6g.44303371G>CCA364337682AARS2,POLR1C,TMEM151Bc.2060C>G (p.Ala687Gly)
c.577-3572G>C (n.577-3572G>C)
c.314-3572G>C
c.1769C>G (p.Ala590Gly)
n.2095C>G
c.770C>G (p.Ala257Gly)
c.946-138519G>C (n.946-138519G>C)
6g.44303371G>TCA364337683AARS2,POLR1C,TMEM151Bc.2060C>A (p.Ala687Asp)
c.577-3572G>T (n.577-3572G>T)
c.314-3572G>T
c.1769C>A (p.Ala590Asp)
n.2095C>A
c.770C>A (p.Ala257Asp)
c.946-138519G>T (n.946-138519G>T)
6g.44303372C>ACA364337685AARS2,POLR1C,TMEM151Bc.2059G>T (p.Ala687Ser)
c.577-3571C>A (n.577-3571C>A)
c.314-3571C>A
c.1768G>T (p.Ala590Ser)
n.2094G>T
c.769G>T (p.Ala257Ser)
c.946-138518C>A (n.946-138518C>A)
6g.44303372C=CA1624924410AARS2,POLR1C,TMEM151Bc.2059G= (p.Ala687=)
c.577-3571C= (n.577-3571C=)
c.314-3571C=
c.1768G= (p.Ala590=)
n.2094G=
c.769G= (p.Ala257=)
c.946-138518C= (n.946-138518C=)
6g.44303372C>GCA364337684AARS2,POLR1C,TMEM151Bc.2059G>C (p.Ala687Pro)
c.577-3571C>G (n.577-3571C>G)
c.314-3571C>G
c.1768G>C (p.Ala590Pro)
n.2094G>C
c.769G>C (p.Ala257Pro)
c.946-138518C>G (n.946-138518C>G)
6g.44303372C>TCA3834114AARS2,POLR1C,TMEM151Bc.2059G>A (p.Ala687Thr)
c.577-3571C>T (n.577-3571C>T)
c.314-3571C>T
c.1768G>A (p.Ala590Thr)
n.2094G>A
c.769G>A (p.Ala257Thr)
c.946-138518C>T (n.946-138518C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44303373C>ACA364337686AARS2,POLR1C,TMEM151Bc.2058G>T (p.Glu686Asp)
c.577-3570C>A (n.577-3570C>A)
c.314-3570C>A
c.1767G>T (p.Glu589Asp)
n.2093G>T
c.768G>T (p.Glu256Asp)
c.946-138517C>A (n.946-138517C>A)
6g.44303373C=CA1624924414AARS2,POLR1C,TMEM151Bc.2058G= (p.Glu686=)
c.577-3570C= (n.577-3570C=)
c.314-3570C=
c.1767G= (p.Glu589=)
n.2093G=
c.768G= (p.Glu256=)
c.946-138517C= (n.946-138517C=)
6g.44303373C>GCA364337687AARS2,POLR1C,TMEM151Bc.2058G>C (p.Glu686Asp)
c.577-3570C>G (n.577-3570C>G)
c.314-3570C>G
c.1767G>C (p.Glu589Asp)
n.2093G>C
c.768G>C (p.Glu256Asp)
c.946-138517C>G (n.946-138517C>G)
6g.44303373C>TCA3834115AARS2,POLR1C,TMEM151Bc.2058G>A (p.Glu686=)
c.577-3570C>T (n.577-3570C>T)
c.314-3570C>T
c.1767G>A (p.Glu589=)
n.2093G>A
c.768G>A (p.Glu256=)
c.946-138517C>T (n.946-138517C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303373_44303374delinsCTCA1624924416AARS2,POLR1C,TMEM151Bc.2057_2058delinsAG (p.Glu686=)
c.577-3570_577-3569delinsCT (n.577-3570_577-3569delinsCT)
c.314-3570_314-3569delinsCT
c.1766_1767delinsAG (p.Glu589=)
n.2092_2093delinsAG
c.767_768delinsAG (p.Glu256=)
c.946-138517_946-138516delinsCT (n.946-138517_946-138516delinsCT)
6g.44303374delCA1624924419AARS2,POLR1C,TMEM151Bc.2057del (p.Glu686GlyfsTer?)
c.577-3569del (n.577-3569del)
c.314-3569del
c.1766del (p.Glu589GlyfsTer?)
n.2092del
c.767del (p.Glu256GlyfsTer?)
c.946-138516del (n.946-138516del)
 dbSNP gnomAD v4
6g.44303374T>ACA364337688AARS2,POLR1C,TMEM151Bc.2057A>T (p.Glu686Val)
c.577-3569T>A (n.577-3569T>A)
c.314-3569T>A
c.1766A>T (p.Glu589Val)
n.2092A>T
c.767A>T (p.Glu256Val)
c.946-138516T>A (n.946-138516T>A)
6g.44303374T>CCA364337689AARS2,POLR1C,TMEM151Bc.2057A>G (p.Glu686Gly)
c.577-3569T>C (n.577-3569T>C)
c.314-3569T>C
c.1766A>G (p.Glu589Gly)
n.2092A>G
c.767A>G (p.Glu256Gly)
c.946-138516T>C (n.946-138516T>C)
 dbSNP gnomAD v4
6g.44303374T>GCA364337690AARS2,POLR1C,TMEM151Bc.2057A>C (p.Glu686Ala)
c.577-3569T>G (n.577-3569T>G)
c.314-3569T>G
c.1766A>C (p.Glu589Ala)
n.2092A>C
c.767A>C (p.Glu256Ala)
c.946-138516T>G (n.946-138516T>G)
6g.44303374T=CA1624924420AARS2,POLR1C,TMEM151Bc.2057A= (p.Glu686=)
c.577-3569T= (n.577-3569T=)
c.314-3569T=
c.1766A= (p.Glu589=)
n.2092A=
c.767A= (p.Glu256=)
c.946-138516T= (n.946-138516T=)
6g.44303375C>ACA3834116AARS2,POLR1C,TMEM151Bc.2056G>T (p.Glu686Ter)
c.577-3568C>A (n.577-3568C>A)
c.314-3568C>A
c.1765G>T (p.Glu589Ter)
n.2091G>T
c.766G>T (p.Glu256Ter)
c.946-138515C>A (n.946-138515C>A)
 dbSNP ExAC
6g.44303375C=CA1624924422AARS2,POLR1C,TMEM151Bc.2056G= (p.Glu686=)
c.577-3568C= (n.577-3568C=)
c.314-3568C=
c.1765G= (p.Glu589=)
n.2091G=
c.766G= (p.Glu256=)
c.946-138515C= (n.946-138515C=)
6g.44303375C>GCA364337691AARS2,POLR1C,TMEM151Bc.2056G>C (p.Glu686Gln)
c.577-3568C>G (n.577-3568C>G)
c.314-3568C>G
c.1765G>C (p.Glu589Gln)
n.2091G>C
c.766G>C (p.Glu256Gln)
c.946-138515C>G (n.946-138515C>G)
6g.44303375C>TCA364337692AARS2,POLR1C,TMEM151Bc.2056G>A (p.Glu686Lys)
c.577-3568C>T (n.577-3568C>T)
c.314-3568C>T
c.1765G>A (p.Glu589Lys)
n.2091G>A
c.766G>A (p.Glu256Lys)
c.946-138515C>T (n.946-138515C>T)
6g.44303376C>ACA364337693AARS2,POLR1C,TMEM151Bc.2055G>T (p.Gln685His)
c.577-3567C>A (n.577-3567C>A)
c.314-3567C>A
c.1764G>T (p.Gln588His)
n.2090G>T
c.765G>T (p.Gln255His)
c.946-138514C>A (n.946-138514C>A)
6g.44303376C=CA1624924424AARS2,POLR1C,TMEM151Bc.2055G= (p.Gln685=)
c.577-3567C= (n.577-3567C=)
c.314-3567C=
c.1764G= (p.Gln588=)
n.2090G=
c.765G= (p.Gln255=)
c.946-138514C= (n.946-138514C=)
6g.44303376C>GCA364337694AARS2,POLR1C,TMEM151Bc.2055G>C (p.Gln685His)
c.577-3567C>G (n.577-3567C>G)
c.314-3567C>G
c.1764G>C (p.Gln588His)
n.2090G>C
c.765G>C (p.Gln255His)
c.946-138514C>G (n.946-138514C>G)
6g.44303376C>TCA3834117AARS2,POLR1C,TMEM151Bc.2055G>A (p.Gln685=)
c.577-3567C>T (n.577-3567C>T)
c.314-3567C>T
c.1764G>A (p.Gln588=)
n.2090G>A
c.765G>A (p.Gln255=)
c.946-138514C>T (n.946-138514C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303377T>ACA364337697AARS2,POLR1C,TMEM151Bc.2054A>T (p.Gln685Leu)
c.577-3566T>A (n.577-3566T>A)
c.314-3566T>A
c.1763A>T (p.Gln588Leu)
n.2089A>T
c.764A>T (p.Gln255Leu)
c.946-138513T>A (n.946-138513T>A)
 dbSNP gnomAD v3 gnomAD v4
6g.44303377T>CCA364337696AARS2,POLR1C,TMEM151Bc.2054A>G (p.Gln685Arg)
c.577-3566T>C (n.577-3566T>C)
c.314-3566T>C
c.1763A>G (p.Gln588Arg)
n.2089A>G
c.764A>G (p.Gln255Arg)
c.946-138513T>C (n.946-138513T>C)
 dbSNP
6g.44303377T>GCA364337695AARS2,POLR1C,TMEM151Bc.2054A>C (p.Gln685Pro)
c.577-3566T>G (n.577-3566T>G)
c.314-3566T>G
c.1763A>C (p.Gln588Pro)
n.2089A>C
c.764A>C (p.Gln255Pro)
c.946-138513T>G (n.946-138513T>G)
6g.44303377T=CA1624924428AARS2,POLR1C,TMEM151Bc.2054A= (p.Gln685=)
c.577-3566T= (n.577-3566T=)
c.314-3566T=
c.1763A= (p.Gln588=)
n.2089A=
c.764A= (p.Gln255=)
c.946-138513T= (n.946-138513T=)
6g.44303378G>ACA364337698AARS2,POLR1C,TMEM151Bc.2053C>T (p.Gln685Ter)
c.577-3565G>A (n.577-3565G>A)
c.314-3565G>A
c.1762C>T (p.Gln588Ter)
n.2088C>T
c.763C>T (p.Gln255Ter)
c.946-138512G>A (n.946-138512G>A)
6g.44303378G>CCA364337700AARS2,POLR1C,TMEM151Bc.2053C>G (p.Gln685Glu)
c.577-3565G>C (n.577-3565G>C)
c.314-3565G>C
c.1762C>G (p.Gln588Glu)
n.2088C>G
c.763C>G (p.Gln255Glu)
c.946-138512G>C (n.946-138512G>C)
6g.44303378G>TCA364337699AARS2,POLR1C,TMEM151Bc.2053C>A (p.Gln685Lys)
c.577-3565G>T (n.577-3565G>T)
c.314-3565G>T
c.1762C>A (p.Gln588Lys)
n.2088C>A
c.763C>A (p.Gln255Lys)
c.946-138512G>T (n.946-138512G>T)
6g.44303378_44303380delinsGCACA1624924436AARS2,POLR1C,TMEM151Bc.2051_2053delinsTGC (p.Val684=)
c.577-3565_577-3563delinsGCA (n.577-3565_577-3563delinsGCA)
c.314-3565_314-3563delinsGCA
c.1760_1762delinsTGC (p.Val587=)
n.2086_2088delinsTGC
c.761_763delinsTGC (p.Val254=)
c.946-138512_946-138510delinsGCA (n.946-138512_946-138510delinsGCA)
6g.44303379C>ACA450316313AARS2,POLR1C,TMEM151Bc.2052G>T (p.Val684=)
c.577-3564C>A (n.577-3564C>A)
c.314-3564C>A
c.1761G>T (p.Val587=)
n.2087G>T
c.762G>T (p.Val254=)
c.946-138511C>A (n.946-138511C>A)
 COSMIC
6g.44303379C=CA1624924449AARS2,POLR1C,TMEM151Bc.2052G= (p.Val684=)
c.577-3564C= (n.577-3564C=)
c.314-3564C=
c.1761G= (p.Val587=)
n.2087G=
c.762G= (p.Val254=)
c.946-138511C= (n.946-138511C=)
6g.44303379C>GCA450316314AARS2,POLR1C,TMEM151Bc.2052G>C (p.Val684=)
c.577-3564C>G (n.577-3564C>G)
c.314-3564C>G
c.1761G>C (p.Val587=)
n.2087G>C
c.762G>C (p.Val254=)
c.946-138511C>G (n.946-138511C>G)
6g.44303379C>TCA138386132AARS2,POLR1C,TMEM151Bc.2052G>A (p.Val684=)
c.577-3564C>T (n.577-3564C>T)
c.314-3564C>T
c.1761G>A (p.Val587=)
n.2087G>A
c.762G>A (p.Val254=)
c.946-138511C>T (n.946-138511C>T)
 dbSNP gnomAD v4
6g.44303381_44303382delCA566845109AARS2,POLR1C,TMEM151Bc.2051_2052del (p.Val684AlafsTer8)
c.577-3562_577-3561del (n.577-3562_577-3561del)
c.314-3562_314-3561del
c.1760_1761del (p.Val587AlafsTer8)
n.2086_2087del
c.761_762del (p.Val254AlafsTer8)
c.946-138509_946-138508del (n.946-138509_946-138508del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.44303380A>CCA364337701AARS2,POLR1C,TMEM151Bc.2051T>G (p.Val684Gly)
c.577-3563A>C (n.577-3563A>C)
c.314-3563A>C
c.1760T>G (p.Val587Gly)
n.2086T>G
c.761T>G (p.Val254Gly)
c.946-138510A>C (n.946-138510A>C)
6g.44303380A>GCA364337702AARS2,POLR1C,TMEM151Bc.2051T>C (p.Val684Ala)
c.577-3563A>G (n.577-3563A>G)
c.314-3563A>G
c.1760T>C (p.Val587Ala)
n.2086T>C
c.761T>C (p.Val254Ala)
c.946-138510A>G (n.946-138510A>G)
6g.44303380A>TCA364337703AARS2,POLR1C,TMEM151Bc.2051T>A (p.Val684Glu)
c.577-3563A>T (n.577-3563A>T)
c.314-3563A>T
c.1760T>A (p.Val587Glu)
n.2086T>A
c.761T>A (p.Val254Glu)
c.946-138510A>T (n.946-138510A>T)
6g.44303381C>ACA364337704AARS2,POLR1C,TMEM151Bc.2050G>T (p.Val684Leu)
c.577-3562C>A (n.577-3562C>A)
c.314-3562C>A
c.1759G>T (p.Val587Leu)
n.2085G>T
c.760G>T (p.Val254Leu)
c.946-138509C>A (n.946-138509C>A)
6g.44303381C=CA1624924454AARS2,POLR1C,TMEM151Bc.2050G= (p.Val684=)
c.577-3562C= (n.577-3562C=)
c.314-3562C=
c.1759G= (p.Val587=)
n.2085G=
c.760G= (p.Val254=)
c.946-138509C= (n.946-138509C=)
6g.44303381C>GCA138386143AARS2,POLR1C,TMEM151Bc.2050G>C (p.Val684Leu)
c.577-3562C>G (n.577-3562C>G)
c.314-3562C>G
c.1759G>C (p.Val587Leu)
n.2085G>C
c.760G>C (p.Val254Leu)
c.946-138509C>G (n.946-138509C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44303381C>TCA364337705AARS2,POLR1C,TMEM151Bc.2050G>A (p.Val684Met)
c.577-3562C>T (n.577-3562C>T)
c.314-3562C>T
c.1759G>A (p.Val587Met)
n.2085G>A
c.760G>A (p.Val254Met)
c.946-138509C>T (n.946-138509C>T)
 gnomAD v4
6g.44303382A>CCA450316315AARS2,POLR1C,TMEM151Bc.2049T>G (p.Thr683=)
c.577-3561A>C (n.577-3561A>C)
c.314-3561A>C
c.1758T>G (p.Thr586=)
n.2084T>G
c.759T>G (p.Thr253=)
c.946-138508A>C (n.946-138508A>C)
6g.44303382A>GCA450316316AARS2,POLR1C,TMEM151Bc.2049T>C (p.Thr683=)
c.577-3561A>G (n.577-3561A>G)
c.314-3561A>G
c.1758T>C (p.Thr586=)
n.2084T>C
c.759T>C (p.Thr253=)
c.946-138508A>G (n.946-138508A>G)
6g.44303382A>TCA450316317AARS2,POLR1C,TMEM151Bc.2049T>A (p.Thr683=)
c.577-3561A>T (n.577-3561A>T)
c.314-3561A>T
c.1758T>A (p.Thr586=)
n.2084T>A
c.759T>A (p.Thr253=)
c.946-138508A>T (n.946-138508A>T)
6g.44303383G>ACA3834118AARS2,POLR1C,TMEM151Bc.2048C>T (p.Thr683Ile)
c.577-3560G>A (n.577-3560G>A)
c.314-3560G>A
c.1757C>T (p.Thr586Ile)
n.2083C>T
c.758C>T (p.Thr253Ile)
c.946-138507G>A (n.946-138507G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303383G>CCA364337706AARS2,POLR1C,TMEM151Bc.2048C>G (p.Thr683Ser)
c.577-3560G>C (n.577-3560G>C)
c.314-3560G>C
c.1757C>G (p.Thr586Ser)
n.2083C>G
c.758C>G (p.Thr253Ser)
c.946-138507G>C (n.946-138507G>C)
6g.44303383G=CA1624924458AARS2,POLR1C,TMEM151Bc.2048C= (p.Thr683=)
c.577-3560G= (n.577-3560G=)
c.314-3560G=
c.1757C= (p.Thr586=)
n.2083C=
c.758C= (p.Thr253=)
c.946-138507G= (n.946-138507G=)
6g.44303383G>TCA364337707AARS2,POLR1C,TMEM151Bc.2048C>A (p.Thr683Asn)
c.577-3560G>T (n.577-3560G>T)
c.314-3560G>T
c.1757C>A (p.Thr586Asn)
n.2083C>A
c.758C>A (p.Thr253Asn)
c.946-138507G>T (n.946-138507G>T)
6g.44303384T>ACA364337708AARS2,POLR1C,TMEM151Bc.2047A>T (p.Thr683Ser)
c.577-3559T>A (n.577-3559T>A)
c.314-3559T>A
c.1756A>T (p.Thr586Ser)
n.2082A>T
c.757A>T (p.Thr253Ser)
c.946-138506T>A (n.946-138506T>A)
6g.44303384T>CCA364337709AARS2,POLR1C,TMEM151Bc.2047A>G (p.Thr683Ala)
c.577-3559T>C (n.577-3559T>C)
c.314-3559T>C
c.1756A>G (p.Thr586Ala)
n.2082A>G
c.757A>G (p.Thr253Ala)
c.946-138506T>C (n.946-138506T>C)
 gnomAD v4
6g.44303384T>GCA364337710AARS2,POLR1C,TMEM151Bc.2047A>C (p.Thr683Pro)
c.577-3559T>G (n.577-3559T>G)
c.314-3559T>G
c.1756A>C (p.Thr586Pro)
n.2082A>C
c.757A>C (p.Thr253Pro)
c.946-138506T>G (n.946-138506T>G)
6g.44303385G>ACA450316318AARS2,POLR1C,TMEM151Bc.2046C>T (p.Asn682=)
c.577-3558G>A (n.577-3558G>A)
c.314-3558G>A
c.1755C>T (p.Asn585=)
n.2081C>T
c.756C>T (p.Asn252=)
c.946-138505G>A (n.946-138505G>A)
6g.44303385G>CCA364337712AARS2,POLR1C,TMEM151Bc.2046C>G (p.Asn682Lys)
c.577-3558G>C (n.577-3558G>C)
c.314-3558G>C
c.1755C>G (p.Asn585Lys)
n.2081C>G
c.756C>G (p.Asn252Lys)
c.946-138505G>C (n.946-138505G>C)
6g.44303385G>TCA364337711AARS2,POLR1C,TMEM151Bc.2046C>A (p.Asn682Lys)
c.577-3558G>T (n.577-3558G>T)
c.314-3558G>T
c.1755C>A (p.Asn585Lys)
n.2081C>A
c.756C>A (p.Asn252Lys)
c.946-138505G>T (n.946-138505G>T)
6g.44303386T>ACA364337713AARS2,POLR1C,TMEM151Bc.2045A>T (p.Asn682Ile)
c.577-3557T>A (n.577-3557T>A)
c.314-3557T>A
c.1754A>T (p.Asn585Ile)
n.2080A>T
c.755A>T (p.Asn252Ile)
c.946-138504T>A (n.946-138504T>A)
6g.44303386T>CCA138386150AARS2,POLR1C,TMEM151Bc.2045A>G (p.Asn682Ser)
c.577-3557T>C (n.577-3557T>C)
c.314-3557T>C
c.1754A>G (p.Asn585Ser)
n.2080A>G
c.755A>G (p.Asn252Ser)
c.946-138504T>C (n.946-138504T>C)
 dbSNP
6g.44303386T>GCA364337714AARS2,POLR1C,TMEM151Bc.2045A>C (p.Asn682Thr)
c.577-3557T>G (n.577-3557T>G)
c.314-3557T>G
c.1754A>C (p.Asn585Thr)
n.2080A>C
c.755A>C (p.Asn252Thr)
c.946-138504T>G (n.946-138504T>G)
6g.44303386T=CA1624924461AARS2,POLR1C,TMEM151Bc.2045A= (p.Asn682=)
c.577-3557T= (n.577-3557T=)
c.314-3557T=
c.1754A= (p.Asn585=)
n.2080A=
c.755A= (p.Asn252=)
c.946-138504T= (n.946-138504T=)
6g.44303387T>ACA364337715AARS2,POLR1C,TMEM151Bc.2044A>T (p.Asn682Tyr)
c.577-3556T>A (n.577-3556T>A)
c.314-3556T>A
c.1753A>T (p.Asn585Tyr)
n.2079A>T
c.754A>T (p.Asn252Tyr)
c.946-138503T>A (n.946-138503T>A)
6g.44303387T>CCA364337716AARS2,POLR1C,TMEM151Bc.2044A>G (p.Asn682Asp)
c.577-3556T>C (n.577-3556T>C)
c.314-3556T>C
c.1753A>G (p.Asn585Asp)
n.2079A>G
c.754A>G (p.Asn252Asp)
c.946-138503T>C (n.946-138503T>C)
6g.44303387T>GCA364337717AARS2,POLR1C,TMEM151Bc.2044A>C (p.Asn682His)
c.577-3556T>G (n.577-3556T>G)
c.314-3556T>G
c.1753A>C (p.Asn585His)
n.2079A>C
c.754A>C (p.Asn252His)
c.946-138503T>G (n.946-138503T>G)
6g.44303388C>ACA364337718AARS2,POLR1C,TMEM151Bc.2043G>T (p.Glu681Asp)
c.577-3555C>A (n.577-3555C>A)
c.314-3555C>A
c.1752G>T (p.Glu584Asp)
n.2078G>T
c.753G>T (p.Glu251Asp)
c.946-138502C>A (n.946-138502C>A)
6g.44303388C>GCA364337719AARS2,POLR1C,TMEM151Bc.2043G>C (p.Glu681Asp)
c.577-3555C>G (n.577-3555C>G)
c.314-3555C>G
c.1752G>C (p.Glu584Asp)
n.2078G>C
c.753G>C (p.Glu251Asp)
c.946-138502C>G (n.946-138502C>G)
6g.44303388C>TCA450316319AARS2,POLR1C,TMEM151Bc.2043G>A (p.Glu681=)
c.577-3555C>T (n.577-3555C>T)
c.314-3555C>T
c.1752G>A (p.Glu584=)
n.2078G>A
c.753G>A (p.Glu251=)
c.946-138502C>T (n.946-138502C>T)
6g.44303389T>ACA364337720AARS2,POLR1C,TMEM151Bc.2042A>T (p.Glu681Val)
c.577-3554T>A (n.577-3554T>A)
c.314-3554T>A
c.1751A>T (p.Glu584Val)
n.2077A>T
c.752A>T (p.Glu251Val)
c.946-138501T>A (n.946-138501T>A)
6g.44303389T>CCA364337721AARS2,POLR1C,TMEM151Bc.2042A>G (p.Glu681Gly)
c.577-3554T>C (n.577-3554T>C)
c.314-3554T>C
c.1751A>G (p.Glu584Gly)
n.2077A>G
c.752A>G (p.Glu251Gly)
c.946-138501T>C (n.946-138501T>C)
6g.44303389T>GCA364337722AARS2,POLR1C,TMEM151Bc.2042A>C (p.Glu681Ala)
c.577-3554T>G (n.577-3554T>G)
c.314-3554T>G
c.1751A>C (p.Glu584Ala)
n.2077A>C
c.752A>C (p.Glu251Ala)
c.946-138501T>G (n.946-138501T>G)
6g.44303390C>ACA364337725AARS2,POLR1C,TMEM151Bc.2041G>T (p.Glu681Ter)
c.577-3553C>A (n.577-3553C>A)
c.314-3553C>A
c.1750G>T (p.Glu584Ter)
n.2076G>T
c.751G>T (p.Glu251Ter)
c.946-138500C>A (n.946-138500C>A)
6g.44303390C>GCA364337724AARS2,POLR1C,TMEM151Bc.2041G>C (p.Glu681Gln)
c.577-3553C>G (n.577-3553C>G)
c.314-3553C>G
c.1750G>C (p.Glu584Gln)
n.2076G>C
c.751G>C (p.Glu251Gln)
c.946-138500C>G (n.946-138500C>G)
6g.44303390C>TCA364337723AARS2,POLR1C,TMEM151Bc.2041G>A (p.Glu681Lys)
c.577-3553C>T (n.577-3553C>T)
c.314-3553C>T
c.1750G>A (p.Glu584Lys)
n.2076G>A
c.751G>A (p.Glu251Lys)
c.946-138500C>T (n.946-138500C>T)
6g.44303391C>ACA450316320AARS2,POLR1C,TMEM151Bc.2040G>T (p.Val680=)
c.577-3552C>A (n.577-3552C>A)
c.314-3552C>A
c.1749G>T (p.Val583=)
n.2075G>T
c.750G>T (p.Val250=)
c.946-138499C>A (n.946-138499C>A)
6g.44303391C>GCA450316321AARS2,POLR1C,TMEM151Bc.2040G>C (p.Val680=)
c.577-3552C>G (n.577-3552C>G)
c.314-3552C>G
c.1749G>C (p.Val583=)
n.2075G>C
c.750G>C (p.Val250=)
c.946-138499C>G (n.946-138499C>G)
6g.44303391C>TCA450316322AARS2,POLR1C,TMEM151Bc.2040G>A (p.Val680=)
c.577-3552C>T (n.577-3552C>T)
c.314-3552C>T
c.1749G>A (p.Val583=)
n.2075G>A
c.750G>A (p.Val250=)
c.946-138499C>T (n.946-138499C>T)
6g.44303392A=CA1624924468AARS2,POLR1C,TMEM151Bc.2039T= (p.Val680=)
c.577-3551A= (n.577-3551A=)
c.314-3551A=
c.1748T= (p.Val583=)
n.2074T=
c.749T= (p.Val250=)
c.946-138498A= (n.946-138498A=)
6g.44303392A>CCA364337726AARS2,POLR1C,TMEM151Bc.2039T>G (p.Val680Gly)
c.577-3551A>C (n.577-3551A>C)
c.314-3551A>C
c.1748T>G (p.Val583Gly)
n.2074T>G
c.749T>G (p.Val250Gly)
c.946-138498A>C (n.946-138498A>C)
6g.44303392A>GCA364337727AARS2,POLR1C,TMEM151Bc.2039T>C (p.Val680Ala)
c.577-3551A>G (n.577-3551A>G)
c.314-3551A>G
c.1748T>C (p.Val583Ala)
n.2074T>C
c.749T>C (p.Val250Ala)
c.946-138498A>G (n.946-138498A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.44303392A>TCA364337728AARS2,POLR1C,TMEM151Bc.2039T>A (p.Val680Glu)
c.577-3551A>T (n.577-3551A>T)
c.314-3551A>T
c.1748T>A (p.Val583Glu)
n.2074T>A
c.749T>A (p.Val250Glu)
c.946-138498A>T (n.946-138498A>T)
 COSMIC
6g.44303393C>ACA364337729AARS2,POLR1C,TMEM151Bc.2038G>T (p.Val680Leu)
c.577-3550C>A (n.577-3550C>A)
c.314-3550C>A
c.1747G>T (p.Val583Leu)
n.2073G>T
c.748G>T (p.Val250Leu)
c.946-138497C>A (n.946-138497C>A)
 gnomAD v4
6g.44303393C=CA1624924471AARS2,POLR1C,TMEM151Bc.2038G= (p.Val680=)
c.577-3550C= (n.577-3550C=)
c.314-3550C=
c.1747G= (p.Val583=)
n.2073G=
c.748G= (p.Val250=)
c.946-138497C= (n.946-138497C=)
6g.44303393C>GCA364337730AARS2,POLR1C,TMEM151Bc.2038G>C (p.Val680Leu)
c.577-3550C>G (n.577-3550C>G)
c.314-3550C>G
c.1747G>C (p.Val583Leu)
n.2073G>C
c.748G>C (p.Val250Leu)
c.946-138497C>G (n.946-138497C>G)
6g.44303393C>TCA138386152AARS2,POLR1C,TMEM151Bc.2038G>A (p.Val680Met)
c.577-3550C>T (n.577-3550C>T)
c.314-3550C>T
c.1747G>A (p.Val583Met)
n.2073G>A
c.748G>A (p.Val250Met)
c.946-138497C>T (n.946-138497C>T)
 dbSNP gnomAD v4
6g.44303394T>ACA450316323AARS2,POLR1C,TMEM151Bc.2037A>T (p.Ala679=)
c.577-3549T>A (n.577-3549T>A)
c.314-3549T>A
c.1746A>T (p.Ala582=)
n.2072A>T
c.747A>T (p.Ala249=)
c.946-138496T>A (n.946-138496T>A)
6g.44303394T>CCA450316324AARS2,POLR1C,TMEM151Bc.2037A>G (p.Ala679=)
c.577-3549T>C (n.577-3549T>C)
c.314-3549T>C
c.1746A>G (p.Ala582=)
n.2072A>G
c.747A>G (p.Ala249=)
c.946-138496T>C (n.946-138496T>C)
6g.44303394T>GCA450316325AARS2,POLR1C,TMEM151Bc.2037A>C (p.Ala679=)
c.577-3549T>G (n.577-3549T>G)
c.314-3549T>G
c.1746A>C (p.Ala582=)
n.2072A>C
c.747A>C (p.Ala249=)
c.946-138496T>G (n.946-138496T>G)
6g.44303395G>ACA364337731AARS2,POLR1C,TMEM151Bc.2036C>T (p.Ala679Val)
c.577-3548G>A (n.577-3548G>A)
c.314-3548G>A
c.1745C>T (p.Ala582Val)
n.2071C>T
c.746C>T (p.Ala249Val)
c.946-138495G>A (n.946-138495G>A)
 dbSNP
6g.44303395G>CCA364337732AARS2,POLR1C,TMEM151Bc.2036C>G (p.Ala679Gly)
c.577-3548G>C (n.577-3548G>C)
c.314-3548G>C
c.1745C>G (p.Ala582Gly)
n.2071C>G
c.746C>G (p.Ala249Gly)
c.946-138495G>C (n.946-138495G>C)
6g.44303395G=CA1624924475AARS2,POLR1C,TMEM151Bc.2036C= (p.Ala679=)
c.577-3548G= (n.577-3548G=)
c.314-3548G=
c.1745C= (p.Ala582=)
n.2071C=
c.746C= (p.Ala249=)
c.946-138495G= (n.946-138495G=)
6g.44303395G>TCA364337733AARS2,POLR1C,TMEM151Bc.2036C>A (p.Ala679Glu)
c.577-3548G>T (n.577-3548G>T)
c.314-3548G>T
c.1745C>A (p.Ala582Glu)
n.2071C>A
c.746C>A (p.Ala249Glu)
c.946-138495G>T (n.946-138495G>T)
 gnomAD v4
6g.44303396C>ACA364337734AARS2,POLR1C,TMEM151Bc.2035G>T (p.Ala679Ser)
c.577-3547C>A (n.577-3547C>A)
c.314-3547C>A
c.1744G>T (p.Ala582Ser)
n.2070G>T
c.745G>T (p.Ala249Ser)
c.946-138494C>A (n.946-138494C>A)
6g.44303396C>GCA364337735AARS2,POLR1C,TMEM151Bc.2035G>C (p.Ala679Pro)
c.577-3547C>G (n.577-3547C>G)
c.314-3547C>G
c.1744G>C (p.Ala582Pro)
n.2070G>C
c.745G>C (p.Ala249Pro)
c.946-138494C>G (n.946-138494C>G)
6g.44303396C>TCA364337736AARS2,POLR1C,TMEM151Bc.2035G>A (p.Ala679Thr)
c.577-3547C>T (n.577-3547C>T)
c.314-3547C>T
c.1744G>A (p.Ala582Thr)
n.2070G>A
c.745G>A (p.Ala249Thr)
c.946-138494C>T (n.946-138494C>T)
 gnomAD v4
6g.44303397C>ACA450316326AARS2,POLR1C,TMEM151Bc.2034G>T (p.Arg678=)
c.577-3546C>A (n.577-3546C>A)
c.314-3546C>A
c.1743G>T (p.Arg581=)
n.2069G>T
c.744G>T (p.Arg248=)
c.946-138493C>A (n.946-138493C>A)
6g.44303397C>GCA450316327AARS2,POLR1C,TMEM151Bc.2034G>C (p.Arg678=)
c.577-3546C>G (n.577-3546C>G)
c.314-3546C>G
c.1743G>C (p.Arg581=)
n.2069G>C
c.744G>C (p.Arg248=)
c.946-138493C>G (n.946-138493C>G)
6g.44303397C>TCA450316328AARS2,POLR1C,TMEM151Bc.2034G>A (p.Arg678=)
c.577-3546C>T (n.577-3546C>T)
c.314-3546C>T
c.1743G>A (p.Arg581=)
n.2069G>A
c.744G>A (p.Arg248=)
c.946-138493C>T (n.946-138493C>T)
6g.44303398C>ACA364337738AARS2,POLR1C,TMEM151Bc.2033G>T (p.Arg678Leu)
c.577-3545C>A (n.577-3545C>A)
c.314-3545C>A
c.1742G>T (p.Arg581Leu)
n.2068G>T
c.743G>T (p.Arg248Leu)
c.946-138492C>A (n.946-138492C>A)
6g.44303398C=CA1624924479AARS2,POLR1C,TMEM151Bc.2033G= (p.Arg678=)
c.577-3545C= (n.577-3545C=)
c.314-3545C=
c.1742G= (p.Arg581=)
n.2068G=
c.743G= (p.Arg248=)
c.946-138492C= (n.946-138492C=)
6g.44303398C>GCA364337737AARS2,POLR1C,TMEM151Bc.2033G>C (p.Arg678Pro)
c.577-3545C>G (n.577-3545C>G)
c.314-3545C>G
c.1742G>C (p.Arg581Pro)
n.2068G>C
c.743G>C (p.Arg248Pro)
c.946-138492C>G (n.946-138492C>G)
 gnomAD v4
6g.44303398C>TCA289176AARS2,POLR1C,TMEM151Bc.2033G>A (p.Arg678Gln)
c.577-3545C>T (n.577-3545C>T)
c.314-3545C>T
c.1742G>A (p.Arg581Gln)
n.2068G>A
c.743G>A (p.Arg248Gln)
c.946-138492C>T (n.946-138492C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303399G>ACA3834119AARS2,POLR1C,TMEM151Bc.2032C>T (p.Arg678Trp)
c.577-3544G>A (n.577-3544G>A)
c.314-3544G>A
c.1741C>T (p.Arg581Trp)
n.2067C>T
c.742C>T (p.Arg248Trp)
c.946-138491G>A (n.946-138491G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44303399G>CCA364337739AARS2,POLR1C,TMEM151Bc.2032C>G (p.Arg678Gly)
c.577-3544G>C (n.577-3544G>C)
c.314-3544G>C
c.1741C>G (p.Arg581Gly)
n.2067C>G
c.742C>G (p.Arg248Gly)
c.946-138491G>C (n.946-138491G>C)
6g.44303399G=CA1624924489AARS2,POLR1C,TMEM151Bc.2032C= (p.Arg678=)
c.577-3544G= (n.577-3544G=)
c.314-3544G=
c.1741C= (p.Arg581=)
n.2067C=
c.742C= (p.Arg248=)
c.946-138491G= (n.946-138491G=)
6g.44303399G>TCA450316329AARS2,POLR1C,TMEM151Bc.2032C>A (p.Arg678=)
c.577-3544G>T (n.577-3544G>T)
c.314-3544G>T
c.1741C>A (p.Arg581=)
n.2067C>A
c.742C>A (p.Arg248=)
c.946-138491G>T (n.946-138491G>T)
 gnomAD v4
6g.44303400G>ACA450316330AARS2,POLR1C,TMEM151Bc.2031C>T (p.Leu677=)
c.577-3543G>A (n.577-3543G>A)
c.314-3543G>A
c.1740C>T (p.Leu580=)
n.2066C>T
c.741C>T (p.Leu247=)
c.946-138490G>A (n.946-138490G>A)
6g.44303400G>CCA450316332AARS2,POLR1C,TMEM151Bc.2031C>G (p.Leu677=)
c.577-3543G>C (n.577-3543G>C)
c.314-3543G>C
c.1740C>G (p.Leu580=)
n.2066C>G
c.741C>G (p.Leu247=)
c.946-138490G>C (n.946-138490G>C)
 gnomAD v4
6g.44303400G>TCA450316331AARS2,POLR1C,TMEM151Bc.2031C>A (p.Leu677=)
c.577-3543G>T (n.577-3543G>T)
c.314-3543G>T
c.1740C>A (p.Leu580=)
n.2066C>A
c.741C>A (p.Leu247=)
c.946-138490G>T (n.946-138490G>T)
6g.44303401A>CCA364337740AARS2,POLR1C,TMEM151Bc.2030T>G (p.Leu677Arg)
c.577-3542A>C (n.577-3542A>C)
c.314-3542A>C
c.1739T>G (p.Leu580Arg)
n.2065T>G
c.740T>G (p.Leu247Arg)
c.946-138489A>C (n.946-138489A>C)
6g.44303401A>GCA364337741AARS2,POLR1C,TMEM151Bc.2030T>C (p.Leu677Pro)
c.577-3542A>G (n.577-3542A>G)
c.314-3542A>G
c.1739T>C (p.Leu580Pro)
n.2065T>C
c.740T>C (p.Leu247Pro)
c.946-138489A>G (n.946-138489A>G)
6g.44303401A>TCA364337742AARS2,POLR1C,TMEM151Bc.2030T>A (p.Leu677His)
c.577-3542A>T (n.577-3542A>T)
c.314-3542A>T
c.1739T>A (p.Leu580His)
n.2065T>A
c.740T>A (p.Leu247His)
c.946-138489A>T (n.946-138489A>T)
6g.44303402G>ACA364337743AARS2,POLR1C,TMEM151Bc.2029C>T (p.Leu677Phe)
c.577-3541G>A (n.577-3541G>A)
c.314-3541G>A
c.1738C>T (p.Leu580Phe)
n.2064C>T
c.739C>T (p.Leu247Phe)
c.946-138488G>A (n.946-138488G>A)
6g.44303402G>CCA364337744AARS2,POLR1C,TMEM151Bc.2029C>G (p.Leu677Val)
c.577-3541G>C (n.577-3541G>C)
c.314-3541G>C
c.1738C>G (p.Leu580Val)
n.2064C>G
c.739C>G (p.Leu247Val)
c.946-138488G>C (n.946-138488G>C)
6g.44303402G>TCA364337745AARS2,POLR1C,TMEM151Bc.2029C>A (p.Leu677Ile)
c.577-3541G>T (n.577-3541G>T)
c.314-3541G>T
c.1738C>A (p.Leu580Ile)
n.2064C>A
c.739C>A (p.Leu247Ile)
c.946-138488G>T (n.946-138488G>T)
 COSMIC
6g.44303403C>ACA364337746AARS2,POLR1C,TMEM151Bc.2028G>T (p.Gln676His)
c.577-3540C>A (n.577-3540C>A)
c.314-3540C>A
c.1737G>T (p.Gln579His)
n.2063G>T
c.738G>T (p.Gln246His)
c.946-138487C>A (n.946-138487C>A)
 gnomAD v4
6g.44303403C>GCA364337747AARS2,POLR1C,TMEM151Bc.2028G>C (p.Gln676His)
c.577-3540C>G (n.577-3540C>G)
c.314-3540C>G
c.1737G>C (p.Gln579His)
n.2063G>C
c.738G>C (p.Gln246His)
c.946-138487C>G (n.946-138487C>G)
6g.44303403C>TCA450316335AARS2,POLR1C,TMEM151Bc.2028G>A (p.Gln676=)
c.577-3540C>T (n.577-3540C>T)
c.314-3540C>T
c.1737G>A (p.Gln579=)
n.2063G>A
c.738G>A (p.Gln246=)
c.946-138487C>T (n.946-138487C>T)
6g.44303404T>ACA364337748AARS2,POLR1C,TMEM151Bc.2027A>T (p.Gln676Leu)
c.577-3539T>A (n.577-3539T>A)
c.314-3539T>A
c.1736A>T (p.Gln579Leu)
n.2062A>T
c.737A>T (p.Gln246Leu)
c.946-138486T>A (n.946-138486T>A)
6g.44303404T>CCA364337749AARS2,POLR1C,TMEM151Bc.2027A>G (p.Gln676Arg)
c.577-3539T>C (n.577-3539T>C)
c.314-3539T>C
c.1736A>G (p.Gln579Arg)
n.2062A>G
c.737A>G (p.Gln246Arg)
c.946-138486T>C (n.946-138486T>C)
6g.44303404T>GCA364337750AARS2,POLR1C,TMEM151Bc.2027A>C (p.Gln676Pro)
c.577-3539T>G (n.577-3539T>G)
c.314-3539T>G
c.1736A>C (p.Gln579Pro)
n.2062A>C
c.737A>C (p.Gln246Pro)
c.946-138486T>G (n.946-138486T>G)
 ClinVar dbSNP gnomAD v4
6g.44303404T=CA1624924497AARS2,POLR1C,TMEM151Bc.2027A= (p.Gln676=)
c.577-3539T= (n.577-3539T=)
c.314-3539T=
c.1736A= (p.Gln579=)
n.2062A=
c.737A= (p.Gln246=)
c.946-138486T= (n.946-138486T=)
6g.44303405G>ACA364337752AARS2,POLR1C,TMEM151Bc.2026C>T (p.Gln676Ter)
c.577-3538G>A (n.577-3538G>A)
c.314-3538G>A
c.1735C>T (p.Gln579Ter)
n.2061C>T
c.736C>T (p.Gln246Ter)
c.946-138485G>A (n.946-138485G>A)
6g.44303405G>CCA364337753AARS2,POLR1C,TMEM151Bc.2026C>G (p.Gln676Glu)
c.577-3538G>C (n.577-3538G>C)
c.314-3538G>C
c.1735C>G (p.Gln579Glu)
n.2061C>G
c.736C>G (p.Gln246Glu)
c.946-138485G>C (n.946-138485G>C)
6g.44303405G>TCA364337751AARS2,POLR1C,TMEM151Bc.2026C>A (p.Gln676Lys)
c.577-3538G>T (n.577-3538G>T)
c.314-3538G>T
c.1735C>A (p.Gln579Lys)
n.2061C>A
c.736C>A (p.Gln246Lys)
c.946-138485G>T (n.946-138485G>T)
 gnomAD v4
6g.44303406C>ACA364337755AARS2,POLR1C,TMEM151Bc.2025G>T (p.Glu675Asp)
c.577-3537C>A (n.577-3537C>A)
c.314-3537C>A
c.1734G>T (p.Glu578Asp)
n.2060G>T
c.735G>T (p.Glu245Asp)
c.946-138484C>A (n.946-138484C>A)
6g.44303406C>GCA364337754AARS2,POLR1C,TMEM151Bc.2025G>C (p.Glu675Asp)
c.577-3537C>G (n.577-3537C>G)
c.314-3537C>G
c.1734G>C (p.Glu578Asp)
n.2060G>C
c.735G>C (p.Glu245Asp)
c.946-138484C>G (n.946-138484C>G)
6g.44303406C>TCA450316337AARS2,POLR1C,TMEM151Bc.2025G>A (p.Glu675=)
c.577-3537C>T (n.577-3537C>T)
c.314-3537C>T
c.1734G>A (p.Glu578=)
n.2060G>A
c.735G>A (p.Glu245=)
c.946-138484C>T (n.946-138484C>T)
6g.44303407T>ACA364337757AARS2,POLR1C,TMEM151Bc.2024A>T (p.Glu675Val)
c.577-3536T>A (n.577-3536T>A)
c.314-3536T>A
c.1733A>T (p.Glu578Val)
n.2059A>T
c.734A>T (p.Glu245Val)
c.946-138483T>A (n.946-138483T>A)
6g.44303407T>CCA364337756AARS2,POLR1C,TMEM151Bc.2024A>G (p.Glu675Gly)
c.577-3536T>C (n.577-3536T>C)
c.314-3536T>C
c.1733A>G (p.Glu578Gly)
n.2059A>G
c.734A>G (p.Glu245Gly)
c.946-138483T>C (n.946-138483T>C)
6g.44303407T>GCA364337758AARS2,POLR1C,TMEM151Bc.2024A>C (p.Glu675Ala)
c.577-3536T>G (n.577-3536T>G)
c.314-3536T>G
c.1733A>C (p.Glu578Ala)
n.2059A>C
c.734A>C (p.Glu245Ala)
c.946-138483T>G (n.946-138483T>G)
6g.44303408C>ACA364337759AARS2,POLR1C,TMEM151Bc.2023G>T (p.Glu675Ter)
c.577-3535C>A (n.577-3535C>A)
c.314-3535C>A
c.1732G>T (p.Glu578Ter)
n.2058G>T
c.733G>T (p.Glu245Ter)
c.946-138482C>A (n.946-138482C>A)
6g.44303408C=CA1624924504AARS2,POLR1C,TMEM151Bc.2023G= (p.Glu675=)
c.577-3535C= (n.577-3535C=)
c.314-3535C=
c.1732G= (p.Glu578=)
n.2058G=
c.733G= (p.Glu245=)
c.946-138482C= (n.946-138482C=)
6g.44303408C>GCA364337760AARS2,POLR1C,TMEM151Bc.2023G>C (p.Glu675Gln)
c.577-3535C>G (n.577-3535C>G)
c.314-3535C>G
c.1732G>C (p.Glu578Gln)
n.2058G>C
c.733G>C (p.Glu245Gln)
c.946-138482C>G (n.946-138482C>G)
 dbSNP gnomAD v2 gnomAD v4
6g.44303408C>TCA364337761AARS2,POLR1C,TMEM151Bc.2023G>A (p.Glu675Lys)
c.577-3535C>T (n.577-3535C>T)
c.314-3535C>T
c.1732G>A (p.Glu578Lys)
n.2058G>A
c.733G>A (p.Glu245Lys)
c.946-138482C>T (n.946-138482C>T)
6g.44303409T>ACA450316340AARS2,POLR1C,TMEM151Bc.2022A>T (p.Pro674=)
c.577-3534T>A (n.577-3534T>A)
c.314-3534T>A
c.1731A>T (p.Pro577=)
n.2057A>T
c.732A>T (p.Pro244=)
c.946-138481T>A (n.946-138481T>A)
6g.44303409T>CCA450316341AARS2,POLR1C,TMEM151Bc.2022A>G (p.Pro674=)
c.577-3534T>C (n.577-3534T>C)
c.314-3534T>C
c.1731A>G (p.Pro577=)
n.2057A>G
c.732A>G (p.Pro244=)
c.946-138481T>C (n.946-138481T>C)
6g.44303409T>GCA450316342AARS2,POLR1C,TMEM151Bc.2022A>C (p.Pro674=)
c.577-3534T>G (n.577-3534T>G)
c.314-3534T>G
c.1731A>C (p.Pro577=)
n.2057A>C
c.732A>C (p.Pro244=)
c.946-138481T>G (n.946-138481T>G)
6g.44303410G>ACA364337762AARS2,POLR1C,TMEM151Bc.2021C>T (p.Pro674Leu)
c.577-3533G>A (n.577-3533G>A)
c.314-3533G>A
c.1730C>T (p.Pro577Leu)
n.2056C>T
c.731C>T (p.Pro244Leu)
c.946-138480G>A (n.946-138480G>A)
 dbSNP gnomAD v2
6g.44303410G>CCA364337763AARS2,POLR1C,TMEM151Bc.2021C>G (p.Pro674Arg)
c.577-3533G>C (n.577-3533G>C)
c.314-3533G>C
c.1730C>G (p.Pro577Arg)
n.2056C>G
c.731C>G (p.Pro244Arg)
c.946-138480G>C (n.946-138480G>C)
6g.44303410G=CA1624924508AARS2,POLR1C,TMEM151Bc.2021C= (p.Pro674=)
c.577-3533G= (n.577-3533G=)
c.314-3533G=
c.1730C= (p.Pro577=)
n.2056C=
c.731C= (p.Pro244=)
c.946-138480G= (n.946-138480G=)
6g.44303410G>TCA364337764AARS2,POLR1C,TMEM151Bc.2021C>A (p.Pro674Gln)
c.577-3533G>T (n.577-3533G>T)
c.314-3533G>T
c.1730C>A (p.Pro577Gln)
n.2056C>A
c.731C>A (p.Pro244Gln)
c.946-138480G>T (n.946-138480G>T)
6g.44303411G>ACA3834120AARS2,POLR1C,TMEM151Bc.2020C>T (p.Pro674Ser)
c.577-3532G>A (n.577-3532G>A)
c.314-3532G>A
c.1729C>T (p.Pro577Ser)
n.2055C>T
c.730C>T (p.Pro244Ser)
c.946-138479G>A (n.946-138479G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44303411G>CCA364337765AARS2,POLR1C,TMEM151Bc.2020C>G (p.Pro674Ala)
c.577-3532G>C (n.577-3532G>C)
c.314-3532G>C
c.1729C>G (p.Pro577Ala)
n.2055C>G
c.730C>G (p.Pro244Ala)
c.946-138479G>C (n.946-138479G>C)
6g.44303411G=CA1624924516AARS2,POLR1C,TMEM151Bc.2020C= (p.Pro674=)
c.577-3532G= (n.577-3532G=)
c.314-3532G=
c.1729C= (p.Pro577=)
n.2055C=
c.730C= (p.Pro244=)
c.946-138479G= (n.946-138479G=)
6g.44303411G>TCA364337766AARS2,POLR1C,TMEM151Bc.2020C>A (p.Pro674Thr)
c.577-3532G>T (n.577-3532G>T)
c.314-3532G>T
c.1729C>A (p.Pro577Thr)
n.2055C>A
c.730C>A (p.Pro244Thr)
c.946-138479G>T (n.946-138479G>T)
6g.44303412G>ACA450316344AARS2,POLR1C,TMEM151Bc.2019C>T (p.Thr673=)
c.577-3531G>A (n.577-3531G>A)
c.314-3531G>A
c.1728C>T (p.Thr576=)
n.2054C>T
c.729C>T (p.Thr243=)
c.946-138478G>A (n.946-138478G>A)
 gnomAD v4
6g.44303412G>CCA450316345AARS2,POLR1C,TMEM151Bc.2019C>G (p.Thr673=)
c.577-3531G>C (n.577-3531G>C)
c.314-3531G>C
c.1728C>G (p.Thr576=)
n.2054C>G
c.729C>G (p.Thr243=)
c.946-138478G>C (n.946-138478G>C)
6g.44303412G>TCA450316346AARS2,POLR1C,TMEM151Bc.2019C>A (p.Thr673=)
c.577-3531G>T (n.577-3531G>T)
c.314-3531G>T
c.1728C>A (p.Thr576=)
n.2054C>A
c.729C>A (p.Thr243=)
c.946-138478G>T (n.946-138478G>T)
6g.44303413G>ACA364337767AARS2,POLR1C,TMEM151Bc.2018C>T (p.Thr673Ile)
c.577-3530G>A (n.577-3530G>A)
c.314-3530G>A
c.1727C>T (p.Thr576Ile)
n.2053C>T
c.728C>T (p.Thr243Ile)
c.946-138477G>A (n.946-138477G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.44303413G>CCA364337768AARS2,POLR1C,TMEM151Bc.2018C>G (p.Thr673Ser)
c.577-3530G>C (n.577-3530G>C)
c.314-3530G>C
c.1727C>G (p.Thr576Ser)
n.2053C>G
c.728C>G (p.Thr243Ser)
c.946-138477G>C (n.946-138477G>C)
6g.44303413G=CA1624924523AARS2,POLR1C,TMEM151Bc.2018C= (p.Thr673=)
c.577-3530G= (n.577-3530G=)
c.314-3530G=
c.1727C= (p.Thr576=)
n.2053C=
c.728C= (p.Thr243=)
c.946-138477G= (n.946-138477G=)
6g.44303413G>TCA364337769AARS2,POLR1C,TMEM151Bc.2018C>A (p.Thr673Asn)
c.577-3530G>T (n.577-3530G>T)
c.314-3530G>T
c.1727C>A (p.Thr576Asn)
n.2053C>A
c.728C>A (p.Thr243Asn)
c.946-138477G>T (n.946-138477G>T)
6g.44303414T>ACA364337770AARS2,POLR1C,TMEM151Bc.2017A>T (p.Thr673Ser)
c.577-3529T>A (n.577-3529T>A)
c.314-3529T>A
c.1726A>T (p.Thr576Ser)
n.2052A>T
c.727A>T (p.Thr243Ser)
c.946-138476T>A (n.946-138476T>A)
6g.44303414T>CCA364337772AARS2,POLR1C,TMEM151Bc.2017A>G (p.Thr673Ala)
c.577-3529T>C (n.577-3529T>C)
c.314-3529T>C
c.1726A>G (p.Thr576Ala)
n.2052A>G
c.727A>G (p.Thr243Ala)
c.946-138476T>C (n.946-138476T>C)
6g.44303414T>GCA364337771AARS2,POLR1C,TMEM151Bc.2017A>C (p.Thr673Pro)
c.577-3529T>G (n.577-3529T>G)
c.314-3529T>G
c.1726A>C (p.Thr576Pro)
n.2052A>C
c.727A>C (p.Thr243Pro)
c.946-138476T>G (n.946-138476T>G)
6g.44303415C>ACA364337773AARS2,POLR1C,TMEM151Bc.2016G>T (p.Leu672Phe)
c.577-3528C>A (n.577-3528C>A)
c.314-3528C>A
c.1725G>T (p.Leu575Phe)
n.2051G>T
c.726G>T (p.Leu242Phe)
c.946-138475C>A (n.946-138475C>A)
6g.44303415C=CA1624924528AARS2,POLR1C,TMEM151Bc.2016G= (p.Leu672=)
c.577-3528C= (n.577-3528C=)
c.314-3528C=
c.1725G= (p.Leu575=)
n.2051G=
c.726G= (p.Leu242=)
c.946-138475C= (n.946-138475C=)
6g.44303415C>GCA3834121AARS2,POLR1C,TMEM151Bc.2016G>C (p.Leu672Phe)
c.577-3528C>G (n.577-3528C>G)
c.314-3528C>G
c.1725G>C (p.Leu575Phe)
n.2051G>C
c.726G>C (p.Leu242Phe)
c.946-138475C>G (n.946-138475C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44303415C>TCA450316347AARS2,POLR1C,TMEM151Bc.2016G>A (p.Leu672=)
c.577-3528C>T (n.577-3528C>T)
c.314-3528C>T
c.1725G>A (p.Leu575=)
n.2051G>A
c.726G>A (p.Leu242=)
c.946-138475C>T (n.946-138475C>T)
 dbSNP gnomAD v4
6g.44303416A>CCA364337774AARS2,POLR1C,TMEM151Bc.2015T>G (p.Leu672Trp)
c.577-3527A>C (n.577-3527A>C)
c.314-3527A>C
c.1724T>G (p.Leu575Trp)
n.2050T>G
c.725T>G (p.Leu242Trp)
c.946-138474A>C (n.946-138474A>C)
6g.44303416A>GCA364337775AARS2,POLR1C,TMEM151Bc.2015T>C (p.Leu672Ser)
c.577-3527A>G (n.577-3527A>G)
c.314-3527A>G
c.1724T>C (p.Leu575Ser)
n.2050T>C
c.725T>C (p.Leu242Ser)
c.946-138474A>G (n.946-138474A>G)
6g.44303416A>TCA364337776AARS2,POLR1C,TMEM151Bc.2015T>A (p.Leu672Ter)
c.577-3527A>T (n.577-3527A>T)
c.314-3527A>T
c.1724T>A (p.Leu575Ter)
n.2050T>A
c.725T>A (p.Leu242Ter)
c.946-138474A>T (n.946-138474A>T)
6g.44303417A=CA1624924532AARS2,POLR1C,TMEM151Bc.2014T= (p.Leu672=)
c.577-3526A= (n.577-3526A=)
c.314-3526A=
c.1723T= (p.Leu575=)
n.2049T=
c.724T= (p.Leu242=)
c.946-138473A= (n.946-138473A=)
6g.44303417A>CCA364337777AARS2,POLR1C,TMEM151Bc.2014T>G (p.Leu672Val)
c.577-3526A>C (n.577-3526A>C)
c.314-3526A>C
c.1723T>G (p.Leu575Val)
n.2049T>G
c.724T>G (p.Leu242Val)
c.946-138473A>C (n.946-138473A>C)
6g.44303417A>GCA450316350AARS2,POLR1C,TMEM151Bc.2014T>C (p.Leu672=)
c.577-3526A>G (n.577-3526A>G)
c.314-3526A>G
c.1723T>C (p.Leu575=)
n.2049T>C
c.724T>C (p.Leu242=)
c.946-138473A>G (n.946-138473A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.44303417A>TCA364337778AARS2,POLR1C,TMEM151Bc.2014T>A (p.Leu672Met)
c.577-3526A>T (n.577-3526A>T)
c.314-3526A>T
c.1723T>A (p.Leu575Met)
n.2049T>A
c.724T>A (p.Leu242Met)
c.946-138473A>T (n.946-138473A>T)
 gnomAD v4
6g.44303418T>ACA450316352AARS2,POLR1C,TMEM151Bc.2013A>T (p.Pro671=)
c.577-3525T>A (n.577-3525T>A)
c.314-3525T>A
c.1722A>T (p.Pro574=)
n.2048A>T
c.723A>T (p.Pro241=)
c.946-138472T>A (n.946-138472T>A)
6g.44303418T>CCA450316353AARS2,POLR1C,TMEM151Bc.2013A>G (p.Pro671=)
c.577-3525T>C (n.577-3525T>C)
c.314-3525T>C
c.1722A>G (p.Pro574=)
n.2048A>G
c.723A>G (p.Pro241=)
c.946-138472T>C (n.946-138472T>C)
6g.44303418T>GCA450316354AARS2,POLR1C,TMEM151Bc.2013A>C (p.Pro671=)
c.577-3525T>G (n.577-3525T>G)
c.314-3525T>G
c.1722A>C (p.Pro574=)
n.2048A>C
c.723A>C (p.Pro241=)
c.946-138472T>G (n.946-138472T>G)
 gnomAD v4
6g.44303419G>ACA364337779AARS2,POLR1C,TMEM151Bc.2012C>T (p.Pro671Leu)
c.577-3524G>A (n.577-3524G>A)
c.314-3524G>A
c.1721C>T (p.Pro574Leu)
n.2047C>T
c.722C>T (p.Pro241Leu)
c.946-138471G>A (n.946-138471G>A)
6g.44303419G>CCA364337780AARS2,POLR1C,TMEM151Bc.2012C>G (p.Pro671Arg)
c.577-3524G>C (n.577-3524G>C)
c.314-3524G>C
c.1721C>G (p.Pro574Arg)
n.2047C>G
c.722C>G (p.Pro241Arg)
c.946-138471G>C (n.946-138471G>C)
6g.44303419G>TCA364337781AARS2,POLR1C,TMEM151Bc.2012C>A (p.Pro671Gln)
c.577-3524G>T (n.577-3524G>T)
c.314-3524G>T
c.1721C>A (p.Pro574Gln)
n.2047C>A
c.722C>A (p.Pro241Gln)
c.946-138471G>T (n.946-138471G>T)
6g.44303420G>ACA364337783AARS2,POLR1C,TMEM151Bc.2011C>T (p.Pro671Ser)
c.577-3523G>A (n.577-3523G>A)
c.314-3523G>A
c.1720C>T (p.Pro574Ser)
n.2046C>T
c.721C>T (p.Pro241Ser)
c.946-138470G>A (n.946-138470G>A)
6g.44303420G>CCA364337784AARS2,POLR1C,TMEM151Bc.2011C>G (p.Pro671Ala)
c.577-3523G>C (n.577-3523G>C)
c.314-3523G>C
c.1720C>G (p.Pro574Ala)
n.2046C>G
c.721C>G (p.Pro241Ala)
c.946-138470G>C (n.946-138470G>C)
 dbSNP gnomAD v3 gnomAD v4
6g.44303420G=CA1624924537AARS2,POLR1C,TMEM151Bc.2011C= (p.Pro671=)
c.577-3523G= (n.577-3523G=)
c.314-3523G=
c.1720C= (p.Pro574=)
n.2046C=
c.721C= (p.Pro241=)
c.946-138470G= (n.946-138470G=)
6g.44303420G>TCA364337782AARS2,POLR1C,TMEM151Bc.2011C>A (p.Pro671Thr)
c.577-3523G>T (n.577-3523G>T)
c.314-3523G>T
c.1720C>A (p.Pro574Thr)
n.2046C>A
c.721C>A (p.Pro241Thr)
c.946-138470G>T (n.946-138470G>T)

Number of alleles fetched