Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.44303084A>C | CA364337326 | AARS2,POLR1C,TMEM151B | c.2237T>G (p.Val746Gly) c.577-3859A>C (n.577-3859A>C) c.314-3859A>C c.1946T>G (p.Val649Gly) n.2181-174T>G c.947T>G (p.Val316Gly) c.946-138806A>C (n.946-138806A>C) | gnomAD v4 |
6 | g.44303084A>G | CA364337328 | AARS2,POLR1C,TMEM151B | c.2237T>C (p.Val746Ala) c.577-3859A>G (n.577-3859A>G) c.314-3859A>G c.1946T>C (p.Val649Ala) n.2181-174T>C c.947T>C (p.Val316Ala) c.946-138806A>G (n.946-138806A>G) | |
6 | g.44303084A>T | CA364337327 | AARS2,POLR1C,TMEM151B | c.2237T>A (p.Val746Glu) c.577-3859A>T (n.577-3859A>T) c.314-3859A>T c.1946T>A (p.Val649Glu) n.2181-174T>A c.947T>A (p.Val316Glu) c.946-138806A>T (n.946-138806A>T) | |
6 | g.44303085C>A | CA364337329 | AARS2,POLR1C,TMEM151B | c.2236G>T (p.Val746Leu) c.577-3858C>A (n.577-3858C>A) c.314-3858C>A c.1945G>T (p.Val649Leu) n.2181-175G>T c.946G>T (p.Val316Leu) c.946-138805C>A (n.946-138805C>A) | |
6 | g.44303085C= | CA1624923977 | AARS2,POLR1C,TMEM151B | c.2236G= (p.Val746=) c.577-3858C= (n.577-3858C=) c.314-3858C= c.1945G= (p.Val649=) n.2181-175G= c.946G= (p.Val316=) c.946-138805C= (n.946-138805C=) | |
6 | g.44303085C>G | CA364337330 | AARS2,POLR1C,TMEM151B | c.2236G>C (p.Val746Leu) c.577-3858C>G (n.577-3858C>G) c.314-3858C>G c.1945G>C (p.Val649Leu) n.2181-175G>C c.946G>C (p.Val316Leu) c.946-138805C>G (n.946-138805C>G) | |
6 | g.44303085C>T | CA3834061 | AARS2,POLR1C,TMEM151B | c.2236G>A (p.Val746Met) c.577-3858C>T (n.577-3858C>T) c.314-3858C>T c.1945G>A (p.Val649Met) n.2181-175G>A c.946G>A (p.Val316Met) c.946-138805C>T (n.946-138805C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44303086A>C | CA450390923 | AARS2,POLR1C,TMEM151B | c.2235T>G (p.Ser745=) c.577-3857A>C (n.577-3857A>C) c.314-3857A>C c.1944T>G (p.Ser648=) n.2181-176T>G c.945T>G (p.Ser315=) c.946-138804A>C (n.946-138804A>C) | |
6 | g.44303086A>G | CA450390924 | AARS2,POLR1C,TMEM151B | c.2235T>C (p.Ser745=) c.577-3857A>G (n.577-3857A>G) c.314-3857A>G c.1944T>C (p.Ser648=) n.2181-176T>C c.945T>C (p.Ser315=) c.946-138804A>G (n.946-138804A>G) | gnomAD v4 |
6 | g.44303086A>T | CA450390925 | AARS2,POLR1C,TMEM151B | c.2235T>A (p.Ser745=) c.577-3857A>T (n.577-3857A>T) c.314-3857A>T c.1944T>A (p.Ser648=) n.2181-176T>A c.945T>A (p.Ser315=) c.946-138804A>T (n.946-138804A>T) | |
6 | g.44303088_44303089del | CA2678953301 | AARS2,POLR1C,TMEM151B | c.2234_2235del (p.Ser745CysfsTer?) c.577-3855_577-3854del (n.577-3855_577-3854del) c.314-3855_314-3854del c.1943_1944del (p.Ser648CysfsTer?) n.2181-177_2181-176del c.944_945del (p.Ser315CysfsTer?) c.946-138802_946-138801del (n.946-138802_946-138801del) | dbSNP gnomAD v4 |
6 | g.44303087G>A | CA364337331 | AARS2,POLR1C,TMEM151B | c.2234C>T (p.Ser745Phe) c.577-3856G>A (n.577-3856G>A) c.314-3856G>A c.1943C>T (p.Ser648Phe) n.2181-177C>T c.944C>T (p.Ser315Phe) c.946-138803G>A (n.946-138803G>A) | |
6 | g.44303087G>C | CA364337332 | AARS2,POLR1C,TMEM151B | c.2234C>G (p.Ser745Cys) c.577-3856G>C (n.577-3856G>C) c.314-3856G>C c.1943C>G (p.Ser648Cys) n.2181-177C>G c.944C>G (p.Ser315Cys) c.946-138803G>C (n.946-138803G>C) | |
6 | g.44303087G>T | CA364337333 | AARS2,POLR1C,TMEM151B | c.2234C>A (p.Ser745Tyr) c.577-3856G>T (n.577-3856G>T) c.314-3856G>T c.1943C>A (p.Ser648Tyr) n.2181-177C>A c.944C>A (p.Ser315Tyr) c.946-138803G>T (n.946-138803G>T) | |
6 | g.44303088A>C | CA364337334 | AARS2,POLR1C,TMEM151B | c.2233T>G (p.Ser745Ala) c.577-3855A>C (n.577-3855A>C) c.314-3855A>C c.1942T>G (p.Ser648Ala) n.2181-178T>G c.943T>G (p.Ser315Ala) c.946-138802A>C (n.946-138802A>C) | |
6 | g.44303088A>G | CA364337335 | AARS2,POLR1C,TMEM151B | c.2233T>C (p.Ser745Pro) c.577-3855A>G (n.577-3855A>G) c.314-3855A>G c.1942T>C (p.Ser648Pro) n.2181-178T>C c.943T>C (p.Ser315Pro) c.946-138802A>G (n.946-138802A>G) | |
6 | g.44303088A>T | CA364337336 | AARS2,POLR1C,TMEM151B | c.2233T>A (p.Ser745Thr) c.577-3855A>T (n.577-3855A>T) c.314-3855A>T c.1942T>A (p.Ser648Thr) n.2181-178T>A c.943T>A (p.Ser315Thr) c.946-138802A>T (n.946-138802A>T) | |
6 | g.44303088_44303091del | CA2578633190 | AARS2,POLR1C,TMEM151B | c.2230_2233del (p.Thr744LeufsTer16) c.577-3855_577-3852del (n.577-3855_577-3852del) c.314-3855_314-3852del c.1939_1942del (p.Thr647LeufsTer16) n.2181-181_2181-178del c.940_943del (p.Thr314LeufsTer16) c.946-138802_946-138799del (n.946-138802_946-138799del) | gnomAD v4 |
6 | g.44303089G>A | CA450390926 | AARS2,POLR1C,TMEM151B | c.2232C>T (p.Thr744=) c.577-3854G>A (n.577-3854G>A) c.314-3854G>A c.1941C>T (p.Thr647=) n.2181-179C>T c.942C>T (p.Thr314=) c.946-138801G>A (n.946-138801G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44303089G>C | CA450390927 | AARS2,POLR1C,TMEM151B | c.2232C>G (p.Thr744=) c.577-3854G>C (n.577-3854G>C) c.314-3854G>C c.1941C>G (p.Thr647=) n.2181-179C>G c.942C>G (p.Thr314=) c.946-138801G>C (n.946-138801G>C) | gnomAD v4 |
6 | g.44303089G= | CA1624923982 | AARS2,POLR1C,TMEM151B | c.2232C= (p.Thr744=) c.577-3854G= (n.577-3854G=) c.314-3854G= c.1941C= (p.Thr647=) n.2181-179C= c.942C= (p.Thr314=) c.946-138801G= (n.946-138801G=) | |
6 | g.44303089G>T | CA450390928 | AARS2,POLR1C,TMEM151B | c.2232C>A (p.Thr744=) c.577-3854G>T (n.577-3854G>T) c.314-3854G>T c.1941C>A (p.Thr647=) n.2181-179C>A c.942C>A (p.Thr314=) c.946-138801G>T (n.946-138801G>T) | |
6 | g.44303090dup | CA2839102451 | AARS2,POLR1C,TMEM151B | c.2232dup (p.Ser745LeufsTer?) c.577-3853dup (n.577-3853dup) c.314-3853dup c.1941dup (p.Ser648LeufsTer?) n.2181-179dup c.942dup (p.Ser315LeufsTer?) c.946-138800dup (n.946-138800dup) | |
6 | g.44303090G>A | CA364337337 | AARS2,POLR1C,TMEM151B | c.2231C>T (p.Thr744Ile) c.577-3853G>A (n.577-3853G>A) c.314-3853G>A c.1940C>T (p.Thr647Ile) n.2181-180C>T c.941C>T (p.Thr314Ile) c.946-138800G>A (n.946-138800G>A) | gnomAD v4 |
6 | g.44303090G>C | CA364337338 | AARS2,POLR1C,TMEM151B | c.2231C>G (p.Thr744Ser) c.577-3853G>C (n.577-3853G>C) c.314-3853G>C c.1940C>G (p.Thr647Ser) n.2181-180C>G c.941C>G (p.Thr314Ser) c.946-138800G>C (n.946-138800G>C) | |
6 | g.44303090G= | CA1624923984 | AARS2,POLR1C,TMEM151B | c.2231C= (p.Thr744=) c.577-3853G= (n.577-3853G=) c.314-3853G= c.1940C= (p.Thr647=) n.2181-180C= c.941C= (p.Thr314=) c.946-138800G= (n.946-138800G=) | |
6 | g.44303090G>T | CA138385726 | AARS2,POLR1C,TMEM151B | c.2231C>A (p.Thr744Asn) c.577-3853G>T (n.577-3853G>T) c.314-3853G>T c.1940C>A (p.Thr647Asn) n.2181-180C>A c.941C>A (p.Thr314Asn) c.946-138800G>T (n.946-138800G>T) | dbSNP gnomAD v4 |
6 | g.44303091T>A | CA364337340 | AARS2,POLR1C,TMEM151B | c.2230A>T (p.Thr744Ser) c.577-3852T>A (n.577-3852T>A) c.314-3852T>A c.1939A>T (p.Thr647Ser) n.2181-181A>T c.940A>T (p.Thr314Ser) c.946-138799T>A (n.946-138799T>A) | |
6 | g.44303091T>C | CA138385727 | AARS2,POLR1C,TMEM151B | c.2230A>G (p.Thr744Ala) c.577-3852T>C (n.577-3852T>C) c.314-3852T>C c.1939A>G (p.Thr647Ala) n.2181-181A>G c.940A>G (p.Thr314Ala) c.946-138799T>C (n.946-138799T>C) | dbSNP |
6 | g.44303091T>G | CA364337339 | AARS2,POLR1C,TMEM151B | c.2230A>C (p.Thr744Pro) c.577-3852T>G (n.577-3852T>G) c.314-3852T>G c.1939A>C (p.Thr647Pro) n.2181-181A>C c.940A>C (p.Thr314Pro) c.946-138799T>G (n.946-138799T>G) | gnomAD v4 |
6 | g.44303091T= | CA1624923986 | AARS2,POLR1C,TMEM151B | c.2230A= (p.Thr744=) c.577-3852T= (n.577-3852T=) c.314-3852T= c.1939A= (p.Thr647=) n.2181-181A= c.940A= (p.Thr314=) c.946-138799T= (n.946-138799T=) | |
6 | g.44303092C>A | CA364337341 | AARS2,POLR1C,TMEM151B | c.2229G>T (p.Gln743His) c.577-3851C>A (n.577-3851C>A) c.314-3851C>A c.1938G>T (p.Gln646His) n.2181-182G>T c.939G>T (p.Gln313His) c.946-138798C>A (n.946-138798C>A) | |
6 | g.44303092C= | CA1624923990 | AARS2,POLR1C,TMEM151B | c.2229G= (p.Gln743=) c.577-3851C= (n.577-3851C=) c.314-3851C= c.1938G= (p.Gln646=) n.2181-182G= c.939G= (p.Gln313=) c.946-138798C= (n.946-138798C=) | |
6 | g.44303092C>G | CA364337342 | AARS2,POLR1C,TMEM151B | c.2229G>C (p.Gln743His) c.577-3851C>G (n.577-3851C>G) c.314-3851C>G c.1938G>C (p.Gln646His) n.2181-182G>C c.939G>C (p.Gln313His) c.946-138798C>G (n.946-138798C>G) | gnomAD v4 |
6 | g.44303092C>T | CA138385728 | AARS2,POLR1C,TMEM151B | c.2229G>A (p.Gln743=) c.577-3851C>T (n.577-3851C>T) c.314-3851C>T c.1938G>A (p.Gln646=) n.2181-182G>A c.939G>A (p.Gln313=) c.946-138798C>T (n.946-138798C>T) | dbSNP gnomAD v4 |
6 | g.44303093T>A | CA364337343 | AARS2,POLR1C,TMEM151B | c.2228A>T (p.Gln743Leu) c.577-3850T>A (n.577-3850T>A) c.314-3850T>A c.1937A>T (p.Gln646Leu) n.2181-183A>T c.938A>T (p.Gln313Leu) c.946-138797T>A (n.946-138797T>A) | |
6 | g.44303093T>C | CA364337344 | AARS2,POLR1C,TMEM151B | c.2228A>G (p.Gln743Arg) c.577-3850T>C (n.577-3850T>C) c.314-3850T>C c.1937A>G (p.Gln646Arg) n.2181-183A>G c.938A>G (p.Gln313Arg) c.946-138797T>C (n.946-138797T>C) | |
6 | g.44303093T>G | CA364337345 | AARS2,POLR1C,TMEM151B | c.2228A>C (p.Gln743Pro) c.577-3850T>G (n.577-3850T>G) c.314-3850T>G c.1937A>C (p.Gln646Pro) n.2181-183A>C c.938A>C (p.Gln313Pro) c.946-138797T>G (n.946-138797T>G) | gnomAD v4 |
6 | g.44303094G>A | CA364337346 | AARS2,POLR1C,TMEM151B | c.2227C>T (p.Gln743Ter) c.577-3849G>A (n.577-3849G>A) c.314-3849G>A c.1936C>T (p.Gln646Ter) n.2181-184C>T c.937C>T (p.Gln313Ter) c.946-138796G>A (n.946-138796G>A) | gnomAD v4 |
6 | g.44303094G>C | CA364337347 | AARS2,POLR1C,TMEM151B | c.2227C>G (p.Gln743Glu) c.577-3849G>C (n.577-3849G>C) c.314-3849G>C c.1936C>G (p.Gln646Glu) n.2181-184C>G c.937C>G (p.Gln313Glu) c.946-138796G>C (n.946-138796G>C) | |
6 | g.44303094G>T | CA364337348 | AARS2,POLR1C,TMEM151B | c.2227C>A (p.Gln743Lys) c.577-3849G>T (n.577-3849G>T) c.314-3849G>T c.1936C>A (p.Gln646Lys) n.2181-184C>A c.937C>A (p.Gln313Lys) c.946-138796G>T (n.946-138796G>T) | gnomAD v4 |
6 | g.44303095C>A | CA450390929 | AARS2,POLR1C,TMEM151B | c.2226G>T (p.Leu742=) c.577-3848C>A (n.577-3848C>A) c.314-3848C>A c.1935G>T (p.Leu645=) n.2181-185G>T c.936G>T (p.Leu312=) c.946-138795C>A (n.946-138795C>A) | |
6 | g.44303095C= | CA1624923993 | AARS2,POLR1C,TMEM151B | c.2226G= (p.Leu742=) c.577-3848C= (n.577-3848C=) c.314-3848C= c.1935G= (p.Leu645=) n.2181-185G= c.936G= (p.Leu312=) c.946-138795C= (n.946-138795C=) | |
6 | g.44303095C>G | CA450390930 | AARS2,POLR1C,TMEM151B | c.2226G>C (p.Leu742=) c.577-3848C>G (n.577-3848C>G) c.314-3848C>G c.1935G>C (p.Leu645=) n.2181-185G>C c.936G>C (p.Leu312=) c.946-138795C>G (n.946-138795C>G) | |
6 | g.44303095C>T | CA450390931 | AARS2,POLR1C,TMEM151B | c.2226G>A (p.Leu742=) c.577-3848C>T (n.577-3848C>T) c.314-3848C>T c.1935G>A (p.Leu645=) n.2181-185G>A c.936G>A (p.Leu312=) c.946-138795C>T (n.946-138795C>T) | dbSNP gnomAD v4 |
6 | g.44303095dup | CA2841438468 | AARS2,POLR1C,TMEM151B | c.2226dup (p.Gln743AlafsTer?) c.577-3848dup (n.577-3848dup) c.314-3848dup c.1935dup (p.Gln646AlafsTer?) n.2181-185dup c.936dup (p.Gln313AlafsTer?) c.946-138795dup (n.946-138795dup) | |
6 | g.44303096A>C | CA364337349 | AARS2,POLR1C,TMEM151B | c.2225T>G (p.Leu742Arg) c.577-3847A>C (n.577-3847A>C) c.314-3847A>C c.1934T>G (p.Leu645Arg) n.2181-186T>G c.935T>G (p.Leu312Arg) c.946-138794A>C (n.946-138794A>C) | |
6 | g.44303096A>G | CA364337350 | AARS2,POLR1C,TMEM151B | c.2225T>C (p.Leu742Pro) c.577-3847A>G (n.577-3847A>G) c.314-3847A>G c.1934T>C (p.Leu645Pro) n.2181-186T>C c.935T>C (p.Leu312Pro) c.946-138794A>G (n.946-138794A>G) | gnomAD v4 |
6 | g.44303096A>T | CA364337351 | AARS2,POLR1C,TMEM151B | c.2225T>A (p.Leu742Gln) c.577-3847A>T (n.577-3847A>T) c.314-3847A>T c.1934T>A (p.Leu645Gln) n.2181-186T>A c.935T>A (p.Leu312Gln) c.946-138794A>T (n.946-138794A>T) | |
6 | g.44303097G>A | CA450390932 | AARS2,POLR1C,TMEM151B | c.2224C>T (p.Leu742=) c.577-3846G>A (n.577-3846G>A) c.314-3846G>A c.1933C>T (p.Leu645=) n.2181-187C>T c.934C>T (p.Leu312=) c.946-138793G>A (n.946-138793G>A) | |
6 | g.44303097G>C | CA364337352 | AARS2,POLR1C,TMEM151B | c.2224C>G (p.Leu742Val) c.577-3846G>C (n.577-3846G>C) c.314-3846G>C c.1933C>G (p.Leu645Val) n.2181-187C>G c.934C>G (p.Leu312Val) c.946-138793G>C (n.946-138793G>C) | |
6 | g.44303097G>T | CA364337353 | AARS2,POLR1C,TMEM151B | c.2224C>A (p.Leu742Met) c.577-3846G>T (n.577-3846G>T) c.314-3846G>T c.1933C>A (p.Leu645Met) n.2181-187C>A c.934C>A (p.Leu312Met) c.946-138793G>T (n.946-138793G>T) | |
6 | g.44303098T>A | CA450390933 | AARS2,POLR1C,TMEM151B | c.2223A>T (p.Ala741=) c.577-3845T>A (n.577-3845T>A) c.314-3845T>A c.1932A>T (p.Ala644=) n.2181-188A>T c.933A>T (p.Ala311=) c.946-138792T>A (n.946-138792T>A) | |
6 | g.44303098T>C | CA450390934 | AARS2,POLR1C,TMEM151B | c.2223A>G (p.Ala741=) c.577-3845T>C (n.577-3845T>C) c.314-3845T>C c.1932A>G (p.Ala644=) n.2181-188A>G c.933A>G (p.Ala311=) c.946-138792T>C (n.946-138792T>C) | ClinVar dbSNP gnomAD v4 |
6 | g.44303098T>G | CA450390935 | AARS2,POLR1C,TMEM151B | c.2223A>C (p.Ala741=) c.577-3845T>G (n.577-3845T>G) c.314-3845T>G c.1932A>C (p.Ala644=) n.2181-188A>C c.933A>C (p.Ala311=) c.946-138792T>G (n.946-138792T>G) | gnomAD v4 |
6 | g.44303099G>A | CA364337354 | AARS2,POLR1C,TMEM151B | c.2222C>T (p.Ala741Val) c.577-3844G>A (n.577-3844G>A) c.314-3844G>A c.1931C>T (p.Ala644Val) n.2180+187C>T c.932C>T (p.Ala311Val) c.946-138791G>A (n.946-138791G>A) | |
6 | g.44303099G>C | CA364337355 | AARS2,POLR1C,TMEM151B | c.2222C>G (p.Ala741Gly) c.577-3844G>C (n.577-3844G>C) c.314-3844G>C c.1931C>G (p.Ala644Gly) n.2180+187C>G c.932C>G (p.Ala311Gly) c.946-138791G>C (n.946-138791G>C) | |
6 | g.44303099G= | CA1624923995 | AARS2,POLR1C,TMEM151B | c.2222C= (p.Ala741=) c.577-3844G= (n.577-3844G=) c.314-3844G= c.1931C= (p.Ala644=) n.2180+187C= c.932C= (p.Ala311=) c.946-138791G= (n.946-138791G=) | |
6 | g.44303099G>T | CA364337356 | AARS2,POLR1C,TMEM151B | c.2222C>A (p.Ala741Glu) c.577-3844G>T (n.577-3844G>T) c.314-3844G>T c.1931C>A (p.Ala644Glu) n.2180+187C>A c.932C>A (p.Ala311Glu) c.946-138791G>T (n.946-138791G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44303100C>A | CA364337357 | AARS2,POLR1C,TMEM151B | c.2221G>T (p.Ala741Ser) c.577-3843C>A (n.577-3843C>A) c.314-3843C>A c.1930G>T (p.Ala644Ser) n.2180+186G>T c.931G>T (p.Ala311Ser) c.946-138790C>A (n.946-138790C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44303100C= | CA1624923999 | AARS2,POLR1C,TMEM151B | c.2221G= (p.Ala741=) c.577-3843C= (n.577-3843C=) c.314-3843C= c.1930G= (p.Ala644=) n.2180+186G= c.931G= (p.Ala311=) c.946-138790C= (n.946-138790C=) | |
6 | g.44303100C>G | CA364337358 | AARS2,POLR1C,TMEM151B | c.2221G>C (p.Ala741Pro) c.577-3843C>G (n.577-3843C>G) c.314-3843C>G c.1930G>C (p.Ala644Pro) n.2180+186G>C c.931G>C (p.Ala311Pro) c.946-138790C>G (n.946-138790C>G) | |
6 | g.44303100C>T | CA3834062 | AARS2,POLR1C,TMEM151B | c.2221G>A (p.Ala741Thr) c.577-3843C>T (n.577-3843C>T) c.314-3843C>T c.1930G>A (p.Ala644Thr) n.2180+186G>A c.931G>A (p.Ala311Thr) c.946-138790C>T (n.946-138790C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303101G>A | CA3834063 | AARS2,POLR1C,TMEM151B | c.2220C>T (p.Ala740=) c.577-3842G>A (n.577-3842G>A) c.314-3842G>A c.1929C>T (p.Ala643=) n.2180+185C>T c.930C>T (p.Ala310=) c.946-138789G>A (n.946-138789G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303101G>C | CA450390936 | AARS2,POLR1C,TMEM151B | c.2220C>G (p.Ala740=) c.577-3842G>C (n.577-3842G>C) c.314-3842G>C c.1929C>G (p.Ala643=) n.2180+185C>G c.930C>G (p.Ala310=) c.946-138789G>C (n.946-138789G>C) | |
6 | g.44303101G= | CA1624924006 | AARS2,POLR1C,TMEM151B | c.2220C= (p.Ala740=) c.577-3842G= (n.577-3842G=) c.314-3842G= c.1929C= (p.Ala643=) n.2180+185C= c.930C= (p.Ala310=) c.946-138789G= (n.946-138789G=) | |
6 | g.44303101G>T | CA450390937 | AARS2,POLR1C,TMEM151B | c.2220C>A (p.Ala740=) c.577-3842G>T (n.577-3842G>T) c.314-3842G>T c.1929C>A (p.Ala643=) n.2180+185C>A c.930C>A (p.Ala310=) c.946-138789G>T (n.946-138789G>T) | |
6 | g.44303102G>A | CA3834064 | AARS2,POLR1C,TMEM151B | c.2219C>T (p.Ala740Val) c.577-3841G>A (n.577-3841G>A) c.314-3841G>A c.1928C>T (p.Ala643Val) n.2180+184C>T c.929C>T (p.Ala310Val) c.946-138788G>A (n.946-138788G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303102G>C | CA364337359 | AARS2,POLR1C,TMEM151B | c.2219C>G (p.Ala740Gly) c.577-3841G>C (n.577-3841G>C) c.314-3841G>C c.1928C>G (p.Ala643Gly) n.2180+184C>G c.929C>G (p.Ala310Gly) c.946-138788G>C (n.946-138788G>C) | |
6 | g.44303102G= | CA1624924010 | AARS2,POLR1C,TMEM151B | c.2219C= (p.Ala740=) c.577-3841G= (n.577-3841G=) c.314-3841G= c.1928C= (p.Ala643=) n.2180+184C= c.929C= (p.Ala310=) c.946-138788G= (n.946-138788G=) | |
6 | g.44303102G>T | CA364337360 | AARS2,POLR1C,TMEM151B | c.2219C>A (p.Ala740Asp) c.577-3841G>T (n.577-3841G>T) c.314-3841G>T c.1928C>A (p.Ala643Asp) n.2180+184C>A c.929C>A (p.Ala310Asp) c.946-138788G>T (n.946-138788G>T) | |
6 | g.44303103C>A | CA364337361 | AARS2,POLR1C,TMEM151B | c.2218G>T (p.Ala740Ser) c.577-3840C>A (n.577-3840C>A) c.314-3840C>A c.1927G>T (p.Ala643Ser) n.2180+183G>T c.928G>T (p.Ala310Ser) c.946-138787C>A (n.946-138787C>A) | |
6 | g.44303103C= | CA1624924012 | AARS2,POLR1C,TMEM151B | c.2218G= (p.Ala740=) c.577-3840C= (n.577-3840C=) c.314-3840C= c.1927G= (p.Ala643=) n.2180+183G= c.928G= (p.Ala310=) c.946-138787C= (n.946-138787C=) | |
6 | g.44303103C>G | CA3834065 | AARS2,POLR1C,TMEM151B | c.2218G>C (p.Ala740Pro) c.577-3840C>G (n.577-3840C>G) c.314-3840C>G c.1927G>C (p.Ala643Pro) n.2180+183G>C c.928G>C (p.Ala310Pro) c.946-138787C>G (n.946-138787C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303103C>T | CA364337362 | AARS2,POLR1C,TMEM151B | c.2218G>A (p.Ala740Thr) c.577-3840C>T (n.577-3840C>T) c.314-3840C>T c.1927G>A (p.Ala643Thr) n.2180+183G>A c.928G>A (p.Ala310Thr) c.946-138787C>T (n.946-138787C>T) | gnomAD v4 |
6 | g.44303104T>A | CA364337363 | AARS2,POLR1C,TMEM151B | c.2217A>T (p.Gln739His) c.577-3839T>A (n.577-3839T>A) c.314-3839T>A c.1926A>T (p.Gln642His) n.2180+182A>T c.927A>T (p.Gln309His) c.946-138786T>A (n.946-138786T>A) | |
6 | g.44303104T>C | CA450390938 | AARS2,POLR1C,TMEM151B | c.2217A>G (p.Gln739=) c.577-3839T>C (n.577-3839T>C) c.314-3839T>C c.1926A>G (p.Gln642=) n.2180+182A>G c.927A>G (p.Gln309=) c.946-138786T>C (n.946-138786T>C) | |
6 | g.44303104T>G | CA364337364 | AARS2,POLR1C,TMEM151B | c.2217A>C (p.Gln739His) c.577-3839T>G (n.577-3839T>G) c.314-3839T>G c.1926A>C (p.Gln642His) n.2180+182A>C c.927A>C (p.Gln309His) c.946-138786T>G (n.946-138786T>G) | |
6 | g.44303105T>A | CA364337365 | AARS2,POLR1C,TMEM151B | c.2216A>T (p.Gln739Leu) c.577-3838T>A (n.577-3838T>A) c.314-3838T>A c.1925A>T (p.Gln642Leu) n.2180+181A>T c.926A>T (p.Gln309Leu) c.946-138785T>A (n.946-138785T>A) | |
6 | g.44303105T>C | CA364337366 | AARS2,POLR1C,TMEM151B | c.2216A>G (p.Gln739Arg) c.577-3838T>C (n.577-3838T>C) c.314-3838T>C c.1925A>G (p.Gln642Arg) n.2180+181A>G c.926A>G (p.Gln309Arg) c.946-138785T>C (n.946-138785T>C) | |
6 | g.44303105T>G | CA364337367 | AARS2,POLR1C,TMEM151B | c.2216A>C (p.Gln739Pro) c.577-3838T>G (n.577-3838T>G) c.314-3838T>G c.1925A>C (p.Gln642Pro) n.2180+181A>C c.926A>C (p.Gln309Pro) c.946-138785T>G (n.946-138785T>G) | |
6 | g.44303106G>A | CA364337368 | AARS2,POLR1C,TMEM151B | c.2215C>T (p.Gln739Ter) c.577-3837G>A (n.577-3837G>A) c.314-3837G>A c.1924C>T (p.Gln642Ter) n.2180+180C>T c.925C>T (p.Gln309Ter) c.946-138784G>A (n.946-138784G>A) | |
6 | g.44303106G>C | CA364337369 | AARS2,POLR1C,TMEM151B | c.2215C>G (p.Gln739Glu) c.577-3837G>C (n.577-3837G>C) c.314-3837G>C c.1924C>G (p.Gln642Glu) n.2180+180C>G c.925C>G (p.Gln309Glu) c.946-138784G>C (n.946-138784G>C) | |
6 | g.44303106G>T | CA364337370 | AARS2,POLR1C,TMEM151B | c.2215C>A (p.Gln739Lys) c.577-3837G>T (n.577-3837G>T) c.314-3837G>T c.1924C>A (p.Gln642Lys) n.2180+180C>A c.925C>A (p.Gln309Lys) c.946-138784G>T (n.946-138784G>T) | |
6 | g.44303107G>A | CA450390939 | AARS2,POLR1C,TMEM151B | c.2214C>T (p.Ser738=) c.577-3836G>A (n.577-3836G>A) c.314-3836G>A c.1923C>T (p.Ser641=) n.2180+179C>T c.924C>T (p.Ser308=) c.946-138783G>A (n.946-138783G>A) | |
6 | g.44303107G>C | CA450390940 | AARS2,POLR1C,TMEM151B | c.2214C>G (p.Ser738=) c.577-3836G>C (n.577-3836G>C) c.314-3836G>C c.1923C>G (p.Ser641=) n.2180+179C>G c.924C>G (p.Ser308=) c.946-138783G>C (n.946-138783G>C) | |
6 | g.44303107G>T | CA450390941 | AARS2,POLR1C,TMEM151B | c.2214C>A (p.Ser738=) c.577-3836G>T (n.577-3836G>T) c.314-3836G>T c.1923C>A (p.Ser641=) n.2180+179C>A c.924C>A (p.Ser308=) c.946-138783G>T (n.946-138783G>T) | |
6 | g.44303108G>A | CA364337371 | AARS2,POLR1C,TMEM151B | c.2213C>T (p.Ser738Phe) c.577-3835G>A (n.577-3835G>A) c.314-3835G>A c.1922C>T (p.Ser641Phe) n.2180+178C>T c.923C>T (p.Ser308Phe) c.946-138782G>A (n.946-138782G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303108G>C | CA364337372 | AARS2,POLR1C,TMEM151B | c.2213C>G (p.Ser738Cys) c.577-3835G>C (n.577-3835G>C) c.314-3835G>C c.1922C>G (p.Ser641Cys) n.2180+178C>G c.923C>G (p.Ser308Cys) c.946-138782G>C (n.946-138782G>C) | |
6 | g.44303108G= | CA1624924018 | AARS2,POLR1C,TMEM151B | c.2213C= (p.Ser738=) c.577-3835G= (n.577-3835G=) c.314-3835G= c.1922C= (p.Ser641=) n.2180+178C= c.923C= (p.Ser308=) c.946-138782G= (n.946-138782G=) | |
6 | g.44303108G>T | CA138385739 | AARS2,POLR1C,TMEM151B | c.2213C>A (p.Ser738Tyr) c.577-3835G>T (n.577-3835G>T) c.314-3835G>T c.1922C>A (p.Ser641Tyr) n.2180+178C>A c.923C>A (p.Ser308Tyr) c.946-138782G>T (n.946-138782G>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44303109A= | CA1624924021 | AARS2,POLR1C,TMEM151B | c.2212T= (p.Ser738=) c.577-3834A= (n.577-3834A=) c.314-3834A= c.1921T= (p.Ser641=) n.2180+177T= c.922T= (p.Ser308=) c.946-138781A= (n.946-138781A=) | |
6 | g.44303109A>C | CA364337373 | AARS2,POLR1C,TMEM151B | c.2212T>G (p.Ser738Ala) c.577-3834A>C (n.577-3834A>C) c.314-3834A>C c.1921T>G (p.Ser641Ala) n.2180+177T>G c.922T>G (p.Ser308Ala) c.946-138781A>C (n.946-138781A>C) | |
6 | g.44303109A>G | CA364337374 | AARS2,POLR1C,TMEM151B | c.2212T>C (p.Ser738Pro) c.577-3834A>G (n.577-3834A>G) c.314-3834A>G c.1921T>C (p.Ser641Pro) n.2180+177T>C c.922T>C (p.Ser308Pro) c.946-138781A>G (n.946-138781A>G) | dbSNP |
6 | g.44303109A>T | CA364337375 | AARS2,POLR1C,TMEM151B | c.2212T>A (p.Ser738Thr) c.577-3834A>T (n.577-3834A>T) c.314-3834A>T c.1921T>A (p.Ser641Thr) n.2180+177T>A c.922T>A (p.Ser308Thr) c.946-138781A>T (n.946-138781A>T) | |
6 | g.44303110G>A | CA450390942 | AARS2,POLR1C,TMEM151B | c.2211C>T (p.Ala737=) c.577-3833G>A (n.577-3833G>A) c.314-3833G>A c.1920C>T (p.Ala640=) n.2180+176C>T c.921C>T (p.Ala307=) c.946-138780G>A (n.946-138780G>A) | |
6 | g.44303110G>C | CA450390944 | AARS2,POLR1C,TMEM151B | c.2211C>G (p.Ala737=) c.577-3833G>C (n.577-3833G>C) c.314-3833G>C c.1920C>G (p.Ala640=) n.2180+176C>G c.921C>G (p.Ala307=) c.946-138780G>C (n.946-138780G>C) | |
6 | g.44303110G>T | CA450390943 | AARS2,POLR1C,TMEM151B | c.2211C>A (p.Ala737=) c.577-3833G>T (n.577-3833G>T) c.314-3833G>T c.1920C>A (p.Ala640=) n.2180+176C>A c.921C>A (p.Ala307=) c.946-138780G>T (n.946-138780G>T) | |
6 | g.44303111G>A | CA364337378 | AARS2,POLR1C,TMEM151B | c.2210C>T (p.Ala737Val) c.577-3832G>A (n.577-3832G>A) c.314-3832G>A c.1919C>T (p.Ala640Val) n.2180+175C>T c.920C>T (p.Ala307Val) c.946-138779G>A (n.946-138779G>A) | dbSNP |
6 | g.44303111G>C | CA364337377 | AARS2,POLR1C,TMEM151B | c.2210C>G (p.Ala737Gly) c.577-3832G>C (n.577-3832G>C) c.314-3832G>C c.1919C>G (p.Ala640Gly) n.2180+175C>G c.920C>G (p.Ala307Gly) c.946-138779G>C (n.946-138779G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303111G= | CA1624924025 | AARS2,POLR1C,TMEM151B | c.2210C= (p.Ala737=) c.577-3832G= (n.577-3832G=) c.314-3832G= c.1919C= (p.Ala640=) n.2180+175C= c.920C= (p.Ala307=) c.946-138779G= (n.946-138779G=) | |
6 | g.44303111G>T | CA364337376 | AARS2,POLR1C,TMEM151B | c.2210C>A (p.Ala737Asp) c.577-3832G>T (n.577-3832G>T) c.314-3832G>T c.1919C>A (p.Ala640Asp) n.2180+175C>A c.920C>A (p.Ala307Asp) c.946-138779G>T (n.946-138779G>T) | |
6 | g.44303112C>A | CA364337380 | AARS2,POLR1C,TMEM151B | c.2209G>T (p.Ala737Ser) c.577-3831C>A (n.577-3831C>A) c.314-3831C>A c.1918G>T (p.Ala640Ser) n.2180+174G>T c.919G>T (p.Ala307Ser) c.946-138778C>A (n.946-138778C>A) | |
6 | g.44303112C>G | CA364337379 | AARS2,POLR1C,TMEM151B | c.2209G>C (p.Ala737Pro) c.577-3831C>G (n.577-3831C>G) c.314-3831C>G c.1918G>C (p.Ala640Pro) n.2180+174G>C c.919G>C (p.Ala307Pro) c.946-138778C>G (n.946-138778C>G) | |
6 | g.44303112C>T | CA364337381 | AARS2,POLR1C,TMEM151B | c.2209G>A (p.Ala737Thr) c.577-3831C>T (n.577-3831C>T) c.314-3831C>T c.1918G>A (p.Ala640Thr) n.2180+174G>A c.919G>A (p.Ala307Thr) c.946-138778C>T (n.946-138778C>T) | |
6 | g.44303113T>A | CA450390945 | AARS2,POLR1C,TMEM151B | c.2208A>T (p.Pro736=) c.577-3830T>A (n.577-3830T>A) c.314-3830T>A c.1917A>T (p.Pro639=) n.2180+173A>T c.918A>T (p.Pro306=) c.946-138777T>A (n.946-138777T>A) | |
6 | g.44303113T>C | CA450390946 | AARS2,POLR1C,TMEM151B | c.2208A>G (p.Pro736=) c.577-3830T>C (n.577-3830T>C) c.314-3830T>C c.1917A>G (p.Pro639=) n.2180+173A>G c.918A>G (p.Pro306=) c.946-138777T>C (n.946-138777T>C) | |
6 | g.44303113T>G | CA450390947 | AARS2,POLR1C,TMEM151B | c.2208A>C (p.Pro736=) c.577-3830T>G (n.577-3830T>G) c.314-3830T>G c.1917A>C (p.Pro639=) n.2180+173A>C c.918A>C (p.Pro306=) c.946-138777T>G (n.946-138777T>G) | dbSNP |
6 | g.44303113T= | CA1624924028 | AARS2,POLR1C,TMEM151B | c.2208A= (p.Pro736=) c.577-3830T= (n.577-3830T=) c.314-3830T= c.1917A= (p.Pro639=) n.2180+173A= c.918A= (p.Pro306=) c.946-138777T= (n.946-138777T=) | |
6 | g.44303114G>A | CA321782 | AARS2,POLR1C,TMEM151B | c.2207C>T (p.Pro736Leu) c.577-3829G>A (n.577-3829G>A) c.314-3829G>A c.1916C>T (p.Pro639Leu) n.2180+172C>T c.917C>T (p.Pro306Leu) c.946-138776G>A (n.946-138776G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.44303114G>C | CA364337382 | AARS2,POLR1C,TMEM151B | c.2207C>G (p.Pro736Arg) c.577-3829G>C (n.577-3829G>C) c.314-3829G>C c.1916C>G (p.Pro639Arg) n.2180+172C>G c.917C>G (p.Pro306Arg) c.946-138776G>C (n.946-138776G>C) | |
6 | g.44303114G= | CA1624924033 | AARS2,POLR1C,TMEM151B | c.2207C= (p.Pro736=) c.577-3829G= (n.577-3829G=) c.314-3829G= c.1916C= (p.Pro639=) n.2180+172C= c.917C= (p.Pro306=) c.946-138776G= (n.946-138776G=) | |
6 | g.44303114G>T | CA364337383 | AARS2,POLR1C,TMEM151B | c.2207C>A (p.Pro736Gln) c.577-3829G>T (n.577-3829G>T) c.314-3829G>T c.1916C>A (p.Pro639Gln) n.2180+172C>A c.917C>A (p.Pro306Gln) c.946-138776G>T (n.946-138776G>T) | |
6 | g.44303116del | CA2841438469 | AARS2,POLR1C,TMEM151B | c.2207del (p.Pro736GlnfsTer25) c.577-3827del (n.577-3827del) c.314-3827del c.1916del (p.Pro639GlnfsTer25) n.2180+172del c.917del (p.Pro306GlnfsTer25) c.946-138774del (n.946-138774del) | |
6 | g.44303115G>A | CA364337384 | AARS2,POLR1C,TMEM151B | c.2206C>T (p.Pro736Ser) c.577-3828G>A (n.577-3828G>A) c.314-3828G>A c.1915C>T (p.Pro639Ser) n.2180+171C>T c.916C>T (p.Pro306Ser) c.946-138775G>A (n.946-138775G>A) | |
6 | g.44303115G>C | CA364337385 | AARS2,POLR1C,TMEM151B | c.2206C>G (p.Pro736Ala) c.577-3828G>C (n.577-3828G>C) c.314-3828G>C c.1915C>G (p.Pro639Ala) n.2180+171C>G c.916C>G (p.Pro306Ala) c.946-138775G>C (n.946-138775G>C) | |
6 | g.44303115G>T | CA364337386 | AARS2,POLR1C,TMEM151B | c.2206C>A (p.Pro736Thr) c.577-3828G>T (n.577-3828G>T) c.314-3828G>T c.1915C>A (p.Pro639Thr) n.2180+171C>A c.916C>A (p.Pro306Thr) c.946-138775G>T (n.946-138775G>T) | |
6 | g.44303116G>A | CA450390948 | AARS2,POLR1C,TMEM151B | c.2205C>T (p.Asp735=) c.577-3827G>A (n.577-3827G>A) c.314-3827G>A c.1914C>T (p.Asp638=) n.2180+170C>T c.915C>T (p.Asp305=) c.946-138774G>A (n.946-138774G>A) | |
6 | g.44303116G>C | CA138385753 | AARS2,POLR1C,TMEM151B | c.2205C>G (p.Asp735Glu) c.577-3827G>C (n.577-3827G>C) c.314-3827G>C c.1914C>G (p.Asp638Glu) n.2180+170C>G c.915C>G (p.Asp305Glu) c.946-138774G>C (n.946-138774G>C) | dbSNP gnomAD v4 |
6 | g.44303116G= | CA1624924038 | AARS2,POLR1C,TMEM151B | c.2205C= (p.Asp735=) c.577-3827G= (n.577-3827G=) c.314-3827G= c.1914C= (p.Asp638=) n.2180+170C= c.915C= (p.Asp305=) c.946-138774G= (n.946-138774G=) | |
6 | g.44303116G>T | CA364337387 | AARS2,POLR1C,TMEM151B | c.2205C>A (p.Asp735Glu) c.577-3827G>T (n.577-3827G>T) c.314-3827G>T c.1914C>A (p.Asp638Glu) n.2180+170C>A c.915C>A (p.Asp305Glu) c.946-138774G>T (n.946-138774G>T) | |
6 | g.44303117T>A | CA364337388 | AARS2,POLR1C,TMEM151B | c.2204A>T (p.Asp735Val) c.577-3826T>A (n.577-3826T>A) c.314-3826T>A c.1913A>T (p.Asp638Val) n.2180+169A>T c.914A>T (p.Asp305Val) c.946-138773T>A (n.946-138773T>A) | |
6 | g.44303117T>C | CA364337389 | AARS2,POLR1C,TMEM151B | c.2204A>G (p.Asp735Gly) c.577-3826T>C (n.577-3826T>C) c.314-3826T>C c.1913A>G (p.Asp638Gly) n.2180+169A>G c.914A>G (p.Asp305Gly) c.946-138773T>C (n.946-138773T>C) | |
6 | g.44303117T>G | CA364337390 | AARS2,POLR1C,TMEM151B | c.2204A>C (p.Asp735Ala) c.577-3826T>G (n.577-3826T>G) c.314-3826T>G c.1913A>C (p.Asp638Ala) n.2180+169A>C c.914A>C (p.Asp305Ala) c.946-138773T>G (n.946-138773T>G) | dbSNP |
6 | g.44303117T= | CA1624924041 | AARS2,POLR1C,TMEM151B | c.2204A= (p.Asp735=) c.577-3826T= (n.577-3826T=) c.314-3826T= c.1913A= (p.Asp638=) n.2180+169A= c.914A= (p.Asp305=) c.946-138773T= (n.946-138773T=) | |
6 | g.44303118C>A | CA364337391 | AARS2,POLR1C,TMEM151B | c.2203G>T (p.Asp735Tyr) c.577-3825C>A (n.577-3825C>A) c.314-3825C>A c.1912G>T (p.Asp638Tyr) n.2180+168G>T c.913G>T (p.Asp305Tyr) c.946-138772C>A (n.946-138772C>A) | |
6 | g.44303118C>G | CA364337392 | AARS2,POLR1C,TMEM151B | c.2203G>C (p.Asp735His) c.577-3825C>G (n.577-3825C>G) c.314-3825C>G c.1912G>C (p.Asp638His) n.2180+168G>C c.913G>C (p.Asp305His) c.946-138772C>G (n.946-138772C>G) | |
6 | g.44303118C>T | CA364337393 | AARS2,POLR1C,TMEM151B | c.2203G>A (p.Asp735Asn) c.577-3825C>T (n.577-3825C>T) c.314-3825C>T c.1912G>A (p.Asp638Asn) n.2180+168G>A c.913G>A (p.Asp305Asn) c.946-138772C>T (n.946-138772C>T) | |
6 | g.44303119C>A | CA364337394 | AARS2,POLR1C,TMEM151B | c.2202G>T (p.Leu734Phe) c.577-3824C>A (n.577-3824C>A) c.314-3824C>A c.1911G>T (p.Leu637Phe) n.2180+167G>T c.912G>T (p.Leu304Phe) c.946-138771C>A (n.946-138771C>A) | |
6 | g.44303119C= | CA1624924042 | AARS2,POLR1C,TMEM151B | c.2202G= (p.Leu734=) c.577-3824C= (n.577-3824C=) c.314-3824C= c.1911G= (p.Leu637=) n.2180+167G= c.912G= (p.Leu304=) c.946-138771C= (n.946-138771C=) | |
6 | g.44303119C>G | CA364337395 | AARS2,POLR1C,TMEM151B | c.2202G>C (p.Leu734Phe) c.577-3824C>G (n.577-3824C>G) c.314-3824C>G c.1911G>C (p.Leu637Phe) n.2180+167G>C c.912G>C (p.Leu304Phe) c.946-138771C>G (n.946-138771C>G) | |
6 | g.44303119C>T | CA10627057 | AARS2,POLR1C,TMEM151B | c.2202G>A (p.Leu734=) c.577-3824C>T (n.577-3824C>T) c.314-3824C>T c.1911G>A (p.Leu637=) n.2180+167G>A c.912G>A (p.Leu304=) c.946-138771C>T (n.946-138771C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.44303120A>C | CA364337396 | AARS2,POLR1C,TMEM151B | c.2201T>G (p.Leu734Trp) c.577-3823A>C (n.577-3823A>C) c.314-3823A>C c.1910T>G (p.Leu637Trp) n.2180+166T>G c.911T>G (p.Leu304Trp) c.946-138770A>C (n.946-138770A>C) | |
6 | g.44303120A>G | CA364337397 | AARS2,POLR1C,TMEM151B | c.2201T>C (p.Leu734Ser) c.577-3823A>G (n.577-3823A>G) c.314-3823A>G c.1910T>C (p.Leu637Ser) n.2180+166T>C c.911T>C (p.Leu304Ser) c.946-138770A>G (n.946-138770A>G) | |
6 | g.44303120A>T | CA364337398 | AARS2,POLR1C,TMEM151B | c.2201T>A (p.Leu734Ter) c.577-3823A>T (n.577-3823A>T) c.314-3823A>T c.1910T>A (p.Leu637Ter) n.2180+166T>A c.911T>A (p.Leu304Ter) c.946-138770A>T (n.946-138770A>T) | |
6 | g.44303121A>C | CA364337399 | AARS2,POLR1C,TMEM151B | c.2200T>G (p.Leu734Val) c.577-3822A>C (n.577-3822A>C) c.314-3822A>C c.1909T>G (p.Leu637Val) n.2180+165T>G c.910T>G (p.Leu304Val) c.946-138769A>C (n.946-138769A>C) | gnomAD v4 |
6 | g.44303121A>G | CA450390949 | AARS2,POLR1C,TMEM151B | c.2200T>C (p.Leu734=) c.577-3822A>G (n.577-3822A>G) c.314-3822A>G c.1909T>C (p.Leu637=) n.2180+165T>C c.910T>C (p.Leu304=) c.946-138769A>G (n.946-138769A>G) | ClinVar |
6 | g.44303121A>T | CA364337400 | AARS2,POLR1C,TMEM151B | c.2200T>A (p.Leu734Met) c.577-3822A>T (n.577-3822A>T) c.314-3822A>T c.1909T>A (p.Leu637Met) n.2180+165T>A c.910T>A (p.Leu304Met) c.946-138769A>T (n.946-138769A>T) | |
6 | g.44303122T>A | CA450390950 | AARS2,POLR1C,TMEM151B | c.2199A>T (p.Ala733=) c.577-3821T>A (n.577-3821T>A) c.314-3821T>A c.1908A>T (p.Ala636=) n.2180+164A>T c.909A>T (p.Ala303=) c.946-138768T>A (n.946-138768T>A) | |
6 | g.44303122T>C | CA450390952 | AARS2,POLR1C,TMEM151B | c.2199A>G (p.Ala733=) c.577-3821T>C (n.577-3821T>C) c.314-3821T>C c.1908A>G (p.Ala636=) n.2180+164A>G c.909A>G (p.Ala303=) c.946-138768T>C (n.946-138768T>C) | gnomAD v4 |
6 | g.44303122T>G | CA450390951 | AARS2,POLR1C,TMEM151B | c.2199A>C (p.Ala733=) c.577-3821T>G (n.577-3821T>G) c.314-3821T>G c.1908A>C (p.Ala636=) n.2180+164A>C c.909A>C (p.Ala303=) c.946-138768T>G (n.946-138768T>G) | |
6 | g.44303123G>A | CA364337401 | AARS2,POLR1C,TMEM151B | c.2198C>T (p.Ala733Val) c.577-3820G>A (n.577-3820G>A) c.314-3820G>A c.1907C>T (p.Ala636Val) n.2180+163C>T c.908C>T (p.Ala303Val) c.946-138767G>A (n.946-138767G>A) | dbSNP |
6 | g.44303123G>C | CA364337402 | AARS2,POLR1C,TMEM151B | c.2198C>G (p.Ala733Gly) c.577-3820G>C (n.577-3820G>C) c.314-3820G>C c.1907C>G (p.Ala636Gly) n.2180+163C>G c.908C>G (p.Ala303Gly) c.946-138767G>C (n.946-138767G>C) | |
6 | g.44303123G= | CA1624924046 | AARS2,POLR1C,TMEM151B | c.2198C= (p.Ala733=) c.577-3820G= (n.577-3820G=) c.314-3820G= c.1907C= (p.Ala636=) n.2180+163C= c.908C= (p.Ala303=) c.946-138767G= (n.946-138767G=) | |
6 | g.44303123G>T | CA364337403 | AARS2,POLR1C,TMEM151B | c.2198C>A (p.Ala733Glu) c.577-3820G>T (n.577-3820G>T) c.314-3820G>T c.1907C>A (p.Ala636Glu) n.2180+163C>A c.908C>A (p.Ala303Glu) c.946-138767G>T (n.946-138767G>T) | |
6 | g.44303124C>A | CA364337404 | AARS2,POLR1C,TMEM151B | c.2197G>T (p.Ala733Ser) c.577-3819C>A (n.577-3819C>A) c.314-3819C>A c.1906G>T (p.Ala636Ser) n.2180+162G>T c.907G>T (p.Ala303Ser) c.946-138766C>A (n.946-138766C>A) | |
6 | g.44303124C>G | CA364337405 | AARS2,POLR1C,TMEM151B | c.2197G>C (p.Ala733Pro) c.577-3819C>G (n.577-3819C>G) c.314-3819C>G c.1906G>C (p.Ala636Pro) n.2180+162G>C c.907G>C (p.Ala303Pro) c.946-138766C>G (n.946-138766C>G) | |
6 | g.44303124C>T | CA364337406 | AARS2,POLR1C,TMEM151B | c.2197G>A (p.Ala733Thr) c.577-3819C>T (n.577-3819C>T) c.314-3819C>T c.1906G>A (p.Ala636Thr) n.2180+162G>A c.907G>A (p.Ala303Thr) c.946-138766C>T (n.946-138766C>T) | |
6 | g.44303125A= | CA1624924052 | AARS2,POLR1C,TMEM151B | c.2196T= (p.His732=) c.577-3818A= (n.577-3818A=) c.314-3818A= c.1905T= (p.His635=) n.2180+161T= c.906T= (p.His302=) c.946-138765A= (n.946-138765A=) | |
6 | g.44303125A>C | CA364337407 | AARS2,POLR1C,TMEM151B | c.2196T>G (p.His732Gln) c.577-3818A>C (n.577-3818A>C) c.314-3818A>C c.1905T>G (p.His635Gln) n.2180+161T>G c.906T>G (p.His302Gln) c.946-138765A>C (n.946-138765A>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44303125A>G | CA450390953 | AARS2,POLR1C,TMEM151B | c.2196T>C (p.His732=) c.577-3818A>G (n.577-3818A>G) c.314-3818A>G c.1905T>C (p.His635=) n.2180+161T>C c.906T>C (p.His302=) c.946-138765A>G (n.946-138765A>G) | dbSNP gnomAD v4 |
6 | g.44303125A>T | CA364337408 | AARS2,POLR1C,TMEM151B | c.2196T>A (p.His732Gln) c.577-3818A>T (n.577-3818A>T) c.314-3818A>T c.1905T>A (p.His635Gln) n.2180+161T>A c.906T>A (p.His302Gln) c.946-138765A>T (n.946-138765A>T) | |
6 | g.44303126T>A | CA364337409 | AARS2,POLR1C,TMEM151B | c.2195A>T (p.His732Leu) c.577-3817T>A (n.577-3817T>A) c.314-3817T>A c.1904A>T (p.His635Leu) n.2180+160A>T c.905A>T (p.His302Leu) c.946-138764T>A (n.946-138764T>A) | |
6 | g.44303126T>C | CA3834066 | AARS2,POLR1C,TMEM151B | c.2195A>G (p.His732Arg) c.577-3817T>C (n.577-3817T>C) c.314-3817T>C c.1904A>G (p.His635Arg) n.2180+160A>G c.905A>G (p.His302Arg) c.946-138764T>C (n.946-138764T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44303126T>G | CA364337411 | AARS2,POLR1C,TMEM151B | c.2195A>C (p.His732Pro) c.577-3817T>G (n.577-3817T>G) c.314-3817T>G c.1904A>C (p.His635Pro) n.2180+160A>C c.905A>C (p.His302Pro) c.946-138764T>G (n.946-138764T>G) | |
6 | g.44303126T= | CA1624924055 | AARS2,POLR1C,TMEM151B | c.2195A= (p.His732=) c.577-3817T= (n.577-3817T=) c.314-3817T= c.1904A= (p.His635=) n.2180+160A= c.905A= (p.His302=) c.946-138764T= (n.946-138764T=) | |
6 | g.44303127G>A | CA138385764 | AARS2,POLR1C,TMEM151B | c.2194C>T (p.His732Tyr) c.577-3816G>A (n.577-3816G>A) c.314-3816G>A c.1903C>T (p.His635Tyr) n.2180+159C>T c.904C>T (p.His302Tyr) c.946-138763G>A (n.946-138763G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44303127G>C | CA364337412 | AARS2,POLR1C,TMEM151B | c.2194C>G (p.His732Asp) c.577-3816G>C (n.577-3816G>C) c.314-3816G>C c.1903C>G (p.His635Asp) n.2180+159C>G c.904C>G (p.His302Asp) c.946-138763G>C (n.946-138763G>C) | |
6 | g.44303127G= | CA1624924058 | AARS2,POLR1C,TMEM151B | c.2194C= (p.His732=) c.577-3816G= (n.577-3816G=) c.314-3816G= c.1903C= (p.His635=) n.2180+159C= c.904C= (p.His302=) c.946-138763G= (n.946-138763G=) | |
6 | g.44303127G>T | CA364337413 | AARS2,POLR1C,TMEM151B | c.2194C>A (p.His732Asn) c.577-3816G>T (n.577-3816G>T) c.314-3816G>T c.1903C>A (p.His635Asn) n.2180+159C>A c.904C>A (p.His302Asn) c.946-138763G>T (n.946-138763G>T) | |
6 | g.44303129dup | CA2841438470 | AARS2,POLR1C,TMEM151B | c.2194dup (p.His732ProfsTer?) c.577-3814dup (n.577-3814dup) c.314-3814dup c.1903dup (p.His635ProfsTer?) n.2180+159dup c.904dup (p.His302ProfsTer?) c.946-138761dup (n.946-138761dup) | |
6 | g.44303128G>A | CA138385772 | AARS2,POLR1C,TMEM151B | c.2193C>T (p.Ala731=) c.577-3815G>A (n.577-3815G>A) c.314-3815G>A c.1902C>T (p.Ala634=) n.2180+158C>T c.903C>T (p.Ala301=) c.946-138762G>A (n.946-138762G>A) | dbSNP |
6 | g.44303128G>C | CA450390954 | AARS2,POLR1C,TMEM151B | c.2193C>G (p.Ala731=) c.577-3815G>C (n.577-3815G>C) c.314-3815G>C c.1902C>G (p.Ala634=) n.2180+158C>G c.903C>G (p.Ala301=) c.946-138762G>C (n.946-138762G>C) | gnomAD v4 |
6 | g.44303128G= | CA1624924062 | AARS2,POLR1C,TMEM151B | c.2193C= (p.Ala731=) c.577-3815G= (n.577-3815G=) c.314-3815G= c.1902C= (p.Ala634=) n.2180+158C= c.903C= (p.Ala301=) c.946-138762G= (n.946-138762G=) | |
6 | g.44303128G>T | CA450390955 | AARS2,POLR1C,TMEM151B | c.2193C>A (p.Ala731=) c.577-3815G>T (n.577-3815G>T) c.314-3815G>T c.1902C>A (p.Ala634=) n.2180+158C>A c.903C>A (p.Ala301=) c.946-138762G>T (n.946-138762G>T) | |
6 | g.44303129G>A | CA364337414 | AARS2,POLR1C,TMEM151B | c.2192C>T (p.Ala731Val) c.577-3814G>A (n.577-3814G>A) c.314-3814G>A c.1901C>T (p.Ala634Val) n.2180+157C>T c.902C>T (p.Ala301Val) c.946-138761G>A (n.946-138761G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44303129G>C | CA364337415 | AARS2,POLR1C,TMEM151B | c.2192C>G (p.Ala731Gly) c.577-3814G>C (n.577-3814G>C) c.314-3814G>C c.1901C>G (p.Ala634Gly) n.2180+157C>G c.902C>G (p.Ala301Gly) c.946-138761G>C (n.946-138761G>C) | |
6 | g.44303129G= | CA1624924066 | AARS2,POLR1C,TMEM151B | c.2192C= (p.Ala731=) c.577-3814G= (n.577-3814G=) c.314-3814G= c.1901C= (p.Ala634=) n.2180+157C= c.902C= (p.Ala301=) c.946-138761G= (n.946-138761G=) | |
6 | g.44303129G>T | CA364337416 | AARS2,POLR1C,TMEM151B | c.2192C>A (p.Ala731Asp) c.577-3814G>T (n.577-3814G>T) c.314-3814G>T c.1901C>A (p.Ala634Asp) n.2180+157C>A c.902C>A (p.Ala301Asp) c.946-138761G>T (n.946-138761G>T) | |
6 | g.44303130C>A | CA364337417 | AARS2,POLR1C,TMEM151B | c.2191G>T (p.Ala731Ser) c.577-3813C>A (n.577-3813C>A) c.314-3813C>A c.1900G>T (p.Ala634Ser) n.2180+156G>T c.901G>T (p.Ala301Ser) c.946-138760C>A (n.946-138760C>A) | |
6 | g.44303130C= | CA1624924068 | AARS2,POLR1C,TMEM151B | c.2191G= (p.Ala731=) c.577-3813C= (n.577-3813C=) c.314-3813C= c.1900G= (p.Ala634=) n.2180+156G= c.901G= (p.Ala301=) c.946-138760C= (n.946-138760C=) | |
6 | g.44303130C>G | CA364337418 | AARS2,POLR1C,TMEM151B | c.2191G>C (p.Ala731Pro) c.577-3813C>G (n.577-3813C>G) c.314-3813C>G c.1900G>C (p.Ala634Pro) n.2180+156G>C c.901G>C (p.Ala301Pro) c.946-138760C>G (n.946-138760C>G) | |
6 | g.44303130C>T | CA364337419 | AARS2,POLR1C,TMEM151B | c.2191G>A (p.Ala731Thr) c.577-3813C>T (n.577-3813C>T) c.314-3813C>T c.1900G>A (p.Ala634Thr) n.2180+156G>A c.901G>A (p.Ala301Thr) c.946-138760C>T (n.946-138760C>T) | dbSNP |
6 | g.44303131C>A | CA450390956 | AARS2,POLR1C,TMEM151B | c.2190G>T (p.Val730=) c.577-3812C>A (n.577-3812C>A) c.314-3812C>A c.1899G>T (p.Val633=) n.2180+155G>T c.900G>T (p.Val300=) c.946-138759C>A (n.946-138759C>A) | |
6 | g.44303131C>G | CA450390957 | AARS2,POLR1C,TMEM151B | c.2190G>C (p.Val730=) c.577-3812C>G (n.577-3812C>G) c.314-3812C>G c.1899G>C (p.Val633=) n.2180+155G>C c.900G>C (p.Val300=) c.946-138759C>G (n.946-138759C>G) | |
6 | g.44303131C>T | CA450390958 | AARS2,POLR1C,TMEM151B | c.2190G>A (p.Val730=) c.577-3812C>T (n.577-3812C>T) c.314-3812C>T c.1899G>A (p.Val633=) n.2180+155G>A c.900G>A (p.Val300=) c.946-138759C>T (n.946-138759C>T) | dbSNP gnomAD v4 |
6 | g.44303132A>C | CA364337422 | AARS2,POLR1C,TMEM151B | c.2189T>G (p.Val730Gly) c.577-3811A>C (n.577-3811A>C) c.314-3811A>C c.1898T>G (p.Val633Gly) n.2180+154T>G c.899T>G (p.Val300Gly) c.946-138758A>C (n.946-138758A>C) | |
6 | g.44303132A>G | CA364337420 | AARS2,POLR1C,TMEM151B | c.2189T>C (p.Val730Ala) c.577-3811A>G (n.577-3811A>G) c.314-3811A>G c.1898T>C (p.Val633Ala) n.2180+154T>C c.899T>C (p.Val300Ala) c.946-138758A>G (n.946-138758A>G) | |
6 | g.44303132A>T | CA364337421 | AARS2,POLR1C,TMEM151B | c.2189T>A (p.Val730Glu) c.577-3811A>T (n.577-3811A>T) c.314-3811A>T c.1898T>A (p.Val633Glu) n.2180+154T>A c.899T>A (p.Val300Glu) c.946-138758A>T (n.946-138758A>T) | |
6 | g.44303133C>A | CA364337423 | AARS2,POLR1C,TMEM151B | c.2188G>T (p.Val730Leu) c.577-3810C>A (n.577-3810C>A) c.314-3810C>A c.1897G>T (p.Val633Leu) n.2180+153G>T c.898G>T (p.Val300Leu) c.946-138757C>A (n.946-138757C>A) | |
6 | g.44303133C= | CA1624924073 | AARS2,POLR1C,TMEM151B | c.2188G= (p.Val730=) c.577-3810C= (n.577-3810C=) c.314-3810C= c.1897G= (p.Val633=) n.2180+153G= c.898G= (p.Val300=) c.946-138757C= (n.946-138757C=) | |
6 | g.44303133C>G | CA364337424 | AARS2,POLR1C,TMEM151B | c.2188G>C (p.Val730Leu) c.577-3810C>G (n.577-3810C>G) c.314-3810C>G c.1897G>C (p.Val633Leu) n.2180+153G>C c.898G>C (p.Val300Leu) c.946-138757C>G (n.946-138757C>G) | |
6 | g.44303133C>T | CA289178 | AARS2,POLR1C,TMEM151B | c.2188G>A (p.Val730Met) c.577-3810C>T (n.577-3810C>T) c.314-3810C>T c.1897G>A (p.Val633Met) n.2180+153G>A c.898G>A (p.Val300Met) c.946-138757C>T (n.946-138757C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303134G>A | CA3834067 | AARS2,POLR1C,TMEM151B | c.2187C>T (p.Pro729=) c.577-3809G>A (n.577-3809G>A) c.314-3809G>A c.1896C>T (p.Pro632=) n.2180+152C>T c.897C>T (p.Pro299=) c.946-138756G>A (n.946-138756G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303134G>C | CA450390959 | AARS2,POLR1C,TMEM151B | c.2187C>G (p.Pro729=) c.577-3809G>C (n.577-3809G>C) c.314-3809G>C c.1896C>G (p.Pro632=) n.2180+152C>G c.897C>G (p.Pro299=) c.946-138756G>C (n.946-138756G>C) | |
6 | g.44303134G= | CA1624924076 | AARS2,POLR1C,TMEM151B | c.2187C= (p.Pro729=) c.577-3809G= (n.577-3809G=) c.314-3809G= c.1896C= (p.Pro632=) n.2180+152C= c.897C= (p.Pro299=) c.946-138756G= (n.946-138756G=) | |
6 | g.44303134G>T | CA450390960 | AARS2,POLR1C,TMEM151B | c.2187C>A (p.Pro729=) c.577-3809G>T (n.577-3809G>T) c.314-3809G>T c.1896C>A (p.Pro632=) n.2180+152C>A c.897C>A (p.Pro299=) c.946-138756G>T (n.946-138756G>T) | |
6 | g.44303136del | CA2578633220 | AARS2,POLR1C,TMEM151B | c.2187del (p.Val730TrpfsTer?) c.577-3807del (n.577-3807del) c.314-3807del c.1896del (p.Val633TrpfsTer?) n.2180+152del c.897del (p.Val300TrpfsTer?) c.946-138754del (n.946-138754del) | |
6 | g.44303135G>A | CA364337425 | AARS2,POLR1C,TMEM151B | c.2186C>T (p.Pro729Leu) c.577-3808G>A (n.577-3808G>A) c.314-3808G>A c.1895C>T (p.Pro632Leu) n.2180+151C>T c.896C>T (p.Pro299Leu) c.946-138755G>A (n.946-138755G>A) | |
6 | g.44303135G>C | CA364337426 | AARS2,POLR1C,TMEM151B | c.2186C>G (p.Pro729Arg) c.577-3808G>C (n.577-3808G>C) c.314-3808G>C c.1895C>G (p.Pro632Arg) n.2180+151C>G c.896C>G (p.Pro299Arg) c.946-138755G>C (n.946-138755G>C) | |
6 | g.44303135G>T | CA364337427 | AARS2,POLR1C,TMEM151B | c.2186C>A (p.Pro729His) c.577-3808G>T (n.577-3808G>T) c.314-3808G>T c.1895C>A (p.Pro632His) n.2180+151C>A c.896C>A (p.Pro299His) c.946-138755G>T (n.946-138755G>T) | |
6 | g.44303136G>A | CA364337428 | AARS2,POLR1C,TMEM151B | c.2185C>T (p.Pro729Ser) c.577-3807G>A (n.577-3807G>A) c.314-3807G>A c.1894C>T (p.Pro632Ser) n.2180+150C>T c.895C>T (p.Pro299Ser) c.946-138754G>A (n.946-138754G>A) | |
6 | g.44303136G>C | CA364337429 | AARS2,POLR1C,TMEM151B | c.2185C>G (p.Pro729Ala) c.577-3807G>C (n.577-3807G>C) c.314-3807G>C c.1894C>G (p.Pro632Ala) n.2180+150C>G c.895C>G (p.Pro299Ala) c.946-138754G>C (n.946-138754G>C) | |
6 | g.44303136G>T | CA364337430 | AARS2,POLR1C,TMEM151B | c.2185C>A (p.Pro729Thr) c.577-3807G>T (n.577-3807G>T) c.314-3807G>T c.1894C>A (p.Pro632Thr) n.2180+150C>A c.895C>A (p.Pro299Thr) c.946-138754G>T (n.946-138754G>T) | |
6 | g.44303137C>A | CA450390961 | AARS2,POLR1C,TMEM151B | c.2184G>T (p.Val728=) c.577-3806C>A (n.577-3806C>A) c.314-3806C>A c.1893G>T (p.Val631=) n.2180+149G>T c.894G>T (p.Val298=) c.946-138753C>A (n.946-138753C>A) | |
6 | g.44303137C>G | CA450390962 | AARS2,POLR1C,TMEM151B | c.2184G>C (p.Val728=) c.577-3806C>G (n.577-3806C>G) c.314-3806C>G c.1893G>C (p.Val631=) n.2180+149G>C c.894G>C (p.Val298=) c.946-138753C>G (n.946-138753C>G) | |
6 | g.44303137C>T | CA450390963 | AARS2,POLR1C,TMEM151B | c.2184G>A (p.Val728=) c.577-3806C>T (n.577-3806C>T) c.314-3806C>T c.1893G>A (p.Val631=) n.2180+149G>A c.894G>A (p.Val298=) c.946-138753C>T (n.946-138753C>T) | gnomAD v4 |
6 | g.44303138A>C | CA364337431 | AARS2,POLR1C,TMEM151B | c.2183T>G (p.Val728Gly) c.577-3805A>C (n.577-3805A>C) c.314-3805A>C c.1892T>G (p.Val631Gly) n.2180+148T>G c.893T>G (p.Val298Gly) c.946-138752A>C (n.946-138752A>C) | |
6 | g.44303138A>G | CA364337432 | AARS2,POLR1C,TMEM151B | c.2183T>C (p.Val728Ala) c.577-3805A>G (n.577-3805A>G) c.314-3805A>G c.1892T>C (p.Val631Ala) n.2180+148T>C c.893T>C (p.Val298Ala) c.946-138752A>G (n.946-138752A>G) | gnomAD v4 |
6 | g.44303138A>T | CA364337433 | AARS2,POLR1C,TMEM151B | c.2183T>A (p.Val728Glu) c.577-3805A>T (n.577-3805A>T) c.314-3805A>T c.1892T>A (p.Val631Glu) n.2180+148T>A c.893T>A (p.Val298Glu) c.946-138752A>T (n.946-138752A>T) | |
6 | g.44303139C>A | CA364337435 | AARS2,POLR1C,TMEM151B | c.2182G>T (p.Val728Leu) c.577-3804C>A (n.577-3804C>A) c.314-3804C>A c.1891G>T (p.Val631Leu) n.2180+147G>T c.892G>T (p.Val298Leu) c.946-138751C>A (n.946-138751C>A) | dbSNP |
6 | g.44303139C= | CA1624924078 | AARS2,POLR1C,TMEM151B | c.2182G= (p.Val728=) c.577-3804C= (n.577-3804C=) c.314-3804C= c.1891G= (p.Val631=) n.2180+147G= c.892G= (p.Val298=) c.946-138751C= (n.946-138751C=) | |
6 | g.44303139C>G | CA364337436 | AARS2,POLR1C,TMEM151B | c.2182G>C (p.Val728Leu) c.577-3804C>G (n.577-3804C>G) c.314-3804C>G c.1891G>C (p.Val631Leu) n.2180+147G>C c.892G>C (p.Val298Leu) c.946-138751C>G (n.946-138751C>G) | |
6 | g.44303139C>T | CA364337434 | AARS2,POLR1C,TMEM151B | c.2182G>A (p.Val728Met) c.577-3804C>T (n.577-3804C>T) c.314-3804C>T c.1891G>A (p.Val631Met) n.2180+147G>A c.892G>A (p.Val298Met) c.946-138751C>T (n.946-138751C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44303140C>A | CA450390964 | AARS2,POLR1C,TMEM151B | c.2181G>T (p.Gly727=) c.577-3803C>A (n.577-3803C>A) c.314-3803C>A c.1890G>T (p.Gly630=) n.2180+146G>T c.891G>T (p.Gly297=) c.946-138750C>A (n.946-138750C>A) | |
6 | g.44303140C>G | CA450390965 | AARS2,POLR1C,TMEM151B | c.2181G>C (p.Gly727=) c.577-3803C>G (n.577-3803C>G) c.314-3803C>G c.1890G>C (p.Gly630=) n.2180+146G>C c.891G>C (p.Gly297=) c.946-138750C>G (n.946-138750C>G) | |
6 | g.44303140C>T | CA450390966 | AARS2,POLR1C,TMEM151B | c.2181G>A (p.Gly727=) c.577-3803C>T (n.577-3803C>T) c.314-3803C>T c.1890G>A (p.Gly630=) n.2180+146G>A c.891G>A (p.Gly297=) c.946-138750C>T (n.946-138750C>T) | gnomAD v4 |
6 | g.44303141C>A | CA364337437 | AARS2,POLR1C,TMEM151B | c.2180G>T (p.Gly727Val) c.577-3802C>A (n.577-3802C>A) c.314-3802C>A c.1889G>T (p.Gly630Val) n.2180+145G>T c.890G>T (p.Gly297Val) c.946-138749C>A (n.946-138749C>A) | |
6 | g.44303141C= | CA1624924082 | AARS2,POLR1C,TMEM151B | c.2180G= (p.Gly727=) c.577-3802C= (n.577-3802C=) c.314-3802C= c.1889G= (p.Gly630=) n.2180+145G= c.890G= (p.Gly297=) c.946-138749C= (n.946-138749C=) | |
6 | g.44303141C>G | CA364337439 | AARS2,POLR1C,TMEM151B | c.2180G>C (p.Gly727Ala) c.577-3802C>G (n.577-3802C>G) c.314-3802C>G c.1889G>C (p.Gly630Ala) n.2180+145G>C c.890G>C (p.Gly297Ala) c.946-138749C>G (n.946-138749C>G) | dbSNP |
6 | g.44303141C>T | CA364337438 | AARS2,POLR1C,TMEM151B | c.2180G>A (p.Gly727Glu) c.577-3802C>T (n.577-3802C>T) c.314-3802C>T c.1889G>A (p.Gly630Glu) n.2180+145G>A c.890G>A (p.Gly297Glu) c.946-138749C>T (n.946-138749C>T) | dbSNP |
6 | g.44303142C>A | CA364337440 | AARS2,POLR1C,TMEM151B | c.2179G>T (p.Gly727Trp) c.577-3801C>A (n.577-3801C>A) c.314-3801C>A c.1888G>T (p.Gly630Trp) n.2180+144G>T c.889G>T (p.Gly297Trp) c.946-138748C>A (n.946-138748C>A) | |
6 | g.44303142C>G | CA364337441 | AARS2,POLR1C,TMEM151B | c.2179G>C (p.Gly727Arg) c.577-3801C>G (n.577-3801C>G) c.314-3801C>G c.1888G>C (p.Gly630Arg) n.2180+144G>C c.889G>C (p.Gly297Arg) c.946-138748C>G (n.946-138748C>G) | |
6 | g.44303142C>T | CA364337442 | AARS2,POLR1C,TMEM151B | c.2179G>A (p.Gly727Arg) c.577-3801C>T (n.577-3801C>T) c.314-3801C>T c.1888G>A (p.Gly630Arg) n.2180+144G>A c.889G>A (p.Gly297Arg) c.946-138748C>T (n.946-138748C>T) | |
6 | g.44303143C>A | CA450390967 | AARS2,POLR1C,TMEM151B | c.2178G>T (p.Val726=) c.577-3800C>A (n.577-3800C>A) c.314-3800C>A c.1887G>T (p.Val629=) n.2180+143G>T c.888G>T (p.Val296=) c.946-138747C>A (n.946-138747C>A) | |
6 | g.44303143C= | CA1624924086 | AARS2,POLR1C,TMEM151B | c.2178G= (p.Val726=) c.577-3800C= (n.577-3800C=) c.314-3800C= c.1887G= (p.Val629=) n.2180+143G= c.888G= (p.Val296=) c.946-138747C= (n.946-138747C=) | |
6 | g.44303143C>G | CA450390968 | AARS2,POLR1C,TMEM151B | c.2178G>C (p.Val726=) c.577-3800C>G (n.577-3800C>G) c.314-3800C>G c.1887G>C (p.Val629=) n.2180+143G>C c.888G>C (p.Val296=) c.946-138747C>G (n.946-138747C>G) | gnomAD v4 |
6 | g.44303143C>T | CA450390969 | AARS2,POLR1C,TMEM151B | c.2178G>A (p.Val726=) c.577-3800C>T (n.577-3800C>T) c.314-3800C>T c.1887G>A (p.Val629=) n.2180+143G>A c.888G>A (p.Val296=) c.946-138747C>T (n.946-138747C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44303144A= | CA1624924088 | AARS2,POLR1C,TMEM151B | c.2177T= (p.Val726=) c.577-3799A= (n.577-3799A=) c.314-3799A= c.1886T= (p.Val629=) n.2180+142T= c.887T= (p.Val296=) c.946-138746A= (n.946-138746A=) | |
6 | g.44303144A>C | CA364337443 | AARS2,POLR1C,TMEM151B | c.2177T>G (p.Val726Gly) c.577-3799A>C (n.577-3799A>C) c.314-3799A>C c.1886T>G (p.Val629Gly) n.2180+142T>G c.887T>G (p.Val296Gly) c.946-138746A>C (n.946-138746A>C) | |
6 | g.44303144A>G | CA364337444 | AARS2,POLR1C,TMEM151B | c.2177T>C (p.Val726Ala) c.577-3799A>G (n.577-3799A>G) c.314-3799A>G c.1886T>C (p.Val629Ala) n.2180+142T>C c.887T>C (p.Val296Ala) c.946-138746A>G (n.946-138746A>G) | dbSNP |
6 | g.44303144A>T | CA364337445 | AARS2,POLR1C,TMEM151B | c.2177T>A (p.Val726Glu) c.577-3799A>T (n.577-3799A>T) c.314-3799A>T c.1886T>A (p.Val629Glu) n.2180+142T>A c.887T>A (p.Val296Glu) c.946-138746A>T (n.946-138746A>T) | |
6 | g.44303145C>A | CA364337446 | AARS2,POLR1C,TMEM151B | c.2176G>T (p.Val726Leu) c.577-3798C>A (n.577-3798C>A) c.314-3798C>A c.1885G>T (p.Val629Leu) n.2180+141G>T c.886G>T (p.Val296Leu) c.946-138745C>A (n.946-138745C>A) | |
6 | g.44303145C>G | CA364337447 | AARS2,POLR1C,TMEM151B | c.2176G>C (p.Val726Leu) c.577-3798C>G (n.577-3798C>G) c.314-3798C>G c.1885G>C (p.Val629Leu) n.2180+141G>C c.886G>C (p.Val296Leu) c.946-138745C>G (n.946-138745C>G) | gnomAD v4 |
6 | g.44303145C>T | CA364337448 | AARS2,POLR1C,TMEM151B | c.2176G>A (p.Val726Met) c.577-3798C>T (n.577-3798C>T) c.314-3798C>T c.1885G>A (p.Val629Met) n.2180+141G>A c.886G>A (p.Val296Met) c.946-138745C>T (n.946-138745C>T) | |
6 | g.44303146T>A | CA450390970 | AARS2,POLR1C,TMEM151B | c.2175A>T (p.Ser725=) c.577-3797T>A (n.577-3797T>A) c.314-3797T>A c.1884A>T (p.Ser628=) n.2180+140A>T c.885A>T (p.Ser295=) c.946-138744T>A (n.946-138744T>A) | |
6 | g.44303146T>C | CA3834068 | AARS2,POLR1C,TMEM151B | c.2175A>G (p.Ser725=) c.577-3797T>C (n.577-3797T>C) c.314-3797T>C c.1884A>G (p.Ser628=) n.2180+140A>G c.885A>G (p.Ser295=) c.946-138744T>C (n.946-138744T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44303146T>G | CA450390971 | AARS2,POLR1C,TMEM151B | c.2175A>C (p.Ser725=) c.577-3797T>G (n.577-3797T>G) c.314-3797T>G c.1884A>C (p.Ser628=) n.2180+140A>C c.885A>C (p.Ser295=) c.946-138744T>G (n.946-138744T>G) | |
6 | g.44303146T= | CA1624924091 | AARS2,POLR1C,TMEM151B | c.2175A= (p.Ser725=) c.577-3797T= (n.577-3797T=) c.314-3797T= c.1884A= (p.Ser628=) n.2180+140A= c.885A= (p.Ser295=) c.946-138744T= (n.946-138744T=) | |
6 | g.44303147G>A | CA364337449 | AARS2,POLR1C,TMEM151B | c.2174C>T (p.Ser725Leu) c.577-3796G>A (n.577-3796G>A) c.314-3796G>A c.1883C>T (p.Ser628Leu) n.2180+139C>T c.884C>T (p.Ser295Leu) c.946-138743G>A (n.946-138743G>A) | gnomAD v4 |
6 | g.44303147G>C | CA364337450 | AARS2,POLR1C,TMEM151B | c.2174C>G (p.Ser725Ter) c.577-3796G>C (n.577-3796G>C) c.314-3796G>C c.1883C>G (p.Ser628Ter) n.2180+139C>G c.884C>G (p.Ser295Ter) c.946-138743G>C (n.946-138743G>C) | |
6 | g.44303147G>T | CA364337451 | AARS2,POLR1C,TMEM151B | c.2174C>A (p.Ser725Ter) c.577-3796G>T (n.577-3796G>T) c.314-3796G>T c.1883C>A (p.Ser628Ter) n.2180+139C>A c.884C>A (p.Ser295Ter) c.946-138743G>T (n.946-138743G>T) | |
6 | g.44303148A= | CA1624924096 | AARS2,POLR1C,TMEM151B | c.2173T= (p.Ser725=) c.577-3795A= (n.577-3795A=) c.314-3795A= c.1882T= (p.Ser628=) n.2180+138T= c.883T= (p.Ser295=) c.946-138742A= (n.946-138742A=) | |
6 | g.44303148A>C | CA364337454 | AARS2,POLR1C,TMEM151B | c.2173T>G (p.Ser725Ala) c.577-3795A>C (n.577-3795A>C) c.314-3795A>C c.1882T>G (p.Ser628Ala) n.2180+138T>G c.883T>G (p.Ser295Ala) c.946-138742A>C (n.946-138742A>C) | |
6 | g.44303148A>G | CA364337452 | AARS2,POLR1C,TMEM151B | c.2173T>C (p.Ser725Pro) c.577-3795A>G (n.577-3795A>G) c.314-3795A>G c.1882T>C (p.Ser628Pro) n.2180+138T>C c.883T>C (p.Ser295Pro) c.946-138742A>G (n.946-138742A>G) | dbSNP |
6 | g.44303148A>T | CA364337453 | AARS2,POLR1C,TMEM151B | c.2173T>A (p.Ser725Thr) c.577-3795A>T (n.577-3795A>T) c.314-3795A>T c.1882T>A (p.Ser628Thr) n.2180+138T>A c.883T>A (p.Ser295Thr) c.946-138742A>T (n.946-138742A>T) | |
6 | g.44303148dup | CA2841438471 | AARS2,POLR1C,TMEM151B | c.2173dup (p.Ser725PhefsTer?) c.577-3795dup (n.577-3795dup) c.314-3795dup c.1882dup (p.Ser628PhefsTer?) n.2180+138dup c.883dup (p.Ser295PhefsTer?) c.946-138742dup (n.946-138742dup) | |
6 | g.44303149T>A | CA450390972 | AARS2,POLR1C,TMEM151B | c.2172A>T (p.Val724=) c.577-3794T>A (n.577-3794T>A) c.314-3794T>A c.1881A>T (p.Val627=) n.2180+137A>T c.882A>T (p.Val294=) c.946-138741T>A (n.946-138741T>A) | |
6 | g.44303149T>C | CA450390973 | AARS2,POLR1C,TMEM151B | c.2172A>G (p.Val724=) c.577-3794T>C (n.577-3794T>C) c.314-3794T>C c.1881A>G (p.Val627=) n.2180+137A>G c.882A>G (p.Val294=) c.946-138741T>C (n.946-138741T>C) | gnomAD v4 |
6 | g.44303149T>G | CA450390974 | AARS2,POLR1C,TMEM151B | c.2172A>C (p.Val724=) c.577-3794T>G (n.577-3794T>G) c.314-3794T>G c.1881A>C (p.Val627=) n.2180+137A>C c.882A>C (p.Val294=) c.946-138741T>G (n.946-138741T>G) | |
6 | g.44303150A>C | CA364337455 | AARS2,POLR1C,TMEM151B | c.2171T>G (p.Val724Gly) c.577-3793A>C (n.577-3793A>C) c.314-3793A>C c.1880T>G (p.Val627Gly) n.2180+136T>G c.881T>G (p.Val294Gly) c.946-138740A>C (n.946-138740A>C) | |
6 | g.44303150A>G | CA364337456 | AARS2,POLR1C,TMEM151B | c.2171T>C (p.Val724Ala) c.577-3793A>G (n.577-3793A>G) c.314-3793A>G c.1880T>C (p.Val627Ala) n.2180+136T>C c.881T>C (p.Val294Ala) c.946-138740A>G (n.946-138740A>G) | |
6 | g.44303150A>T | CA364337457 | AARS2,POLR1C,TMEM151B | c.2171T>A (p.Val724Glu) c.577-3793A>T (n.577-3793A>T) c.314-3793A>T c.1880T>A (p.Val627Glu) n.2180+136T>A c.881T>A (p.Val294Glu) c.946-138740A>T (n.946-138740A>T) | |
6 | g.44303151C>A | CA364337458 | AARS2,POLR1C,TMEM151B | c.2170G>T (p.Val724Leu) c.577-3792C>A (n.577-3792C>A) c.314-3792C>A c.1879G>T (p.Val627Leu) n.2180+135G>T c.880G>T (p.Val294Leu) c.946-138739C>A (n.946-138739C>A) | |
6 | g.44303151C>G | CA364337459 | AARS2,POLR1C,TMEM151B | c.2170G>C (p.Val724Leu) c.577-3792C>G (n.577-3792C>G) c.314-3792C>G c.1879G>C (p.Val627Leu) n.2180+135G>C c.880G>C (p.Val294Leu) c.946-138739C>G (n.946-138739C>G) | |
6 | g.44303151C>T | CA364337460 | AARS2,POLR1C,TMEM151B | c.2170G>A (p.Val724Ile) c.577-3792C>T (n.577-3792C>T) c.314-3792C>T c.1879G>A (p.Val627Ile) n.2180+135G>A c.880G>A (p.Val294Ile) c.946-138739C>T (n.946-138739C>T) | |
6 | g.44303152C>A | CA450390976 | AARS2,POLR1C,TMEM151B | c.2169G>T (p.Val723=) c.577-3791C>A (n.577-3791C>A) c.314-3791C>A c.1878G>T (p.Val626=) n.2180+134G>T c.879G>T (p.Val293=) c.946-138738C>A (n.946-138738C>A) | |
6 | g.44303152C>G | CA450390977 | AARS2,POLR1C,TMEM151B | c.2169G>C (p.Val723=) c.577-3791C>G (n.577-3791C>G) c.314-3791C>G c.1878G>C (p.Val626=) n.2180+134G>C c.879G>C (p.Val293=) c.946-138738C>G (n.946-138738C>G) | |
6 | g.44303152C>T | CA450390975 | AARS2,POLR1C,TMEM151B | c.2169G>A (p.Val723=) c.577-3791C>T (n.577-3791C>T) c.314-3791C>T c.1878G>A (p.Val626=) n.2180+134G>A c.879G>A (p.Val293=) c.946-138738C>T (n.946-138738C>T) | gnomAD v4 |
6 | g.44303153A= | CA1624924099 | AARS2,POLR1C,TMEM151B | c.2168T= (p.Val723=) c.577-3790A= (n.577-3790A=) c.314-3790A= c.1877T= (p.Val626=) n.2180+133T= c.878T= (p.Val293=) c.946-138737A= (n.946-138737A=) | |
6 | g.44303153A>C | CA364337461 | AARS2,POLR1C,TMEM151B | c.2168T>G (p.Val723Gly) c.577-3790A>C (n.577-3790A>C) c.314-3790A>C c.1877T>G (p.Val626Gly) n.2180+133T>G c.878T>G (p.Val293Gly) c.946-138737A>C (n.946-138737A>C) | |
6 | g.44303153A>G | CA3834070 | AARS2,POLR1C,TMEM151B | c.2168T>C (p.Val723Ala) c.577-3790A>G (n.577-3790A>G) c.314-3790A>G c.1877T>C (p.Val626Ala) n.2180+133T>C c.878T>C (p.Val293Ala) c.946-138737A>G (n.946-138737A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303153A>T | CA3834069 | AARS2,POLR1C,TMEM151B | c.2168T>A (p.Val723Glu) c.577-3790A>T (n.577-3790A>T) c.314-3790A>T c.1877T>A (p.Val626Glu) n.2180+133T>A c.878T>A (p.Val293Glu) c.946-138737A>T (n.946-138737A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44303154C>A | CA364337462 | AARS2,POLR1C,TMEM151B | c.2167G>T (p.Val723Leu) c.577-3789C>A (n.577-3789C>A) c.314-3789C>A c.1876G>T (p.Val626Leu) n.2180+132G>T c.877G>T (p.Val293Leu) c.946-138736C>A (n.946-138736C>A) | |
6 | g.44303154C= | CA1624924107 | AARS2,POLR1C,TMEM151B | c.2167G= (p.Val723=) c.577-3789C= (n.577-3789C=) c.314-3789C= c.1876G= (p.Val626=) n.2180+132G= c.877G= (p.Val293=) c.946-138736C= (n.946-138736C=) | |
6 | g.44303154C>G | CA364337463 | AARS2,POLR1C,TMEM151B | c.2167G>C (p.Val723Leu) c.577-3789C>G (n.577-3789C>G) c.314-3789C>G c.1876G>C (p.Val626Leu) n.2180+132G>C c.877G>C (p.Val293Leu) c.946-138736C>G (n.946-138736C>G) | gnomAD v4 |
6 | g.44303154C>T | CA3834071 | AARS2,POLR1C,TMEM151B | c.2167G>A (p.Val723Met) c.577-3789C>T (n.577-3789C>T) c.314-3789C>T c.1876G>A (p.Val626Met) n.2180+132G>A c.877G>A (p.Val293Met) c.946-138736C>T (n.946-138736C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44303155C>A | CA450390978 | AARS2,POLR1C,TMEM151B | c.2166G>T (p.Arg722=) c.577-3788C>A (n.577-3788C>A) c.314-3788C>A c.1875G>T (p.Arg625=) n.2180+131G>T c.876G>T (p.Arg292=) c.946-138735C>A (n.946-138735C>A) | |
6 | g.44303155C>G | CA450390979 | AARS2,POLR1C,TMEM151B | c.2166G>C (p.Arg722=) c.577-3788C>G (n.577-3788C>G) c.314-3788C>G c.1875G>C (p.Arg625=) n.2180+131G>C c.876G>C (p.Arg292=) c.946-138735C>G (n.946-138735C>G) | |
6 | g.44303155C>T | CA450390980 | AARS2,POLR1C,TMEM151B | c.2166G>A (p.Arg722=) c.577-3788C>T (n.577-3788C>T) c.314-3788C>T c.1875G>A (p.Arg625=) n.2180+131G>A c.876G>A (p.Arg292=) c.946-138735C>T (n.946-138735C>T) | |
6 | g.44303156C>A | CA364337464 | AARS2,POLR1C,TMEM151B | c.2165G>T (p.Arg722Leu) c.577-3787C>A (n.577-3787C>A) c.314-3787C>A c.1874G>T (p.Arg625Leu) n.2180+130G>T c.875G>T (p.Arg292Leu) c.946-138734C>A (n.946-138734C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44303156C= | CA1624924113 | AARS2,POLR1C,TMEM151B | c.2165G= (p.Arg722=) c.577-3787C= (n.577-3787C=) c.314-3787C= c.1874G= (p.Arg625=) n.2180+130G= c.875G= (p.Arg292=) c.946-138734C= (n.946-138734C=) | |
6 | g.44303156C>G | CA364337465 | AARS2,POLR1C,TMEM151B | c.2165G>C (p.Arg722Pro) c.577-3787C>G (n.577-3787C>G) c.314-3787C>G c.1874G>C (p.Arg625Pro) n.2180+130G>C c.875G>C (p.Arg292Pro) c.946-138734C>G (n.946-138734C>G) | |
6 | g.44303156C>T | CA3834072 | AARS2,POLR1C,TMEM151B | c.2165G>A (p.Arg722Gln) c.577-3787C>T (n.577-3787C>T) c.314-3787C>T c.1874G>A (p.Arg625Gln) n.2180+130G>A c.875G>A (p.Arg292Gln) c.946-138734C>T (n.946-138734C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.44303157G>A | CA3834073 | AARS2,POLR1C,TMEM151B | c.2164C>T (p.Arg722Trp) c.577-3786G>A (n.577-3786G>A) c.314-3786G>A c.1873C>T (p.Arg625Trp) n.2180+129C>T c.874C>T (p.Arg292Trp) c.946-138733G>A (n.946-138733G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.44303157G>C | CA364337466 | AARS2,POLR1C,TMEM151B | c.2164C>G (p.Arg722Gly) c.577-3786G>C (n.577-3786G>C) c.314-3786G>C c.1873C>G (p.Arg625Gly) n.2180+129C>G c.874C>G (p.Arg292Gly) c.946-138733G>C (n.946-138733G>C) | |
6 | g.44303157G= | CA1624924118 | AARS2,POLR1C,TMEM151B | c.2164C= (p.Arg722=) c.577-3786G= (n.577-3786G=) c.314-3786G= c.1873C= (p.Arg625=) n.2180+129C= c.874C= (p.Arg292=) c.946-138733G= (n.946-138733G=) | |
6 | g.44303157G>T | CA450390981 | AARS2,POLR1C,TMEM151B | c.2164C>A (p.Arg722=) c.577-3786G>T (n.577-3786G>T) c.314-3786G>T c.1873C>A (p.Arg625=) n.2180+129C>A c.874C>A (p.Arg292=) c.946-138733G>T (n.946-138733G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303158C>A | CA450390984 | AARS2,POLR1C,TMEM151B | c.2163G>T (p.Val721=) c.577-3785C>A (n.577-3785C>A) c.314-3785C>A c.1872G>T (p.Val624=) n.2180+128G>T c.873G>T (p.Val291=) c.946-138732C>A (n.946-138732C>A) | |
6 | g.44303158C>G | CA450390983 | AARS2,POLR1C,TMEM151B | c.2163G>C (p.Val721=) c.577-3785C>G (n.577-3785C>G) c.314-3785C>G c.1872G>C (p.Val624=) n.2180+128G>C c.873G>C (p.Val291=) c.946-138732C>G (n.946-138732C>G) | |
6 | g.44303158C>T | CA450390982 | AARS2,POLR1C,TMEM151B | c.2163G>A (p.Val721=) c.577-3785C>T (n.577-3785C>T) c.314-3785C>T c.1872G>A (p.Val624=) n.2180+128G>A c.873G>A (p.Val291=) c.946-138732C>T (n.946-138732C>T) | |
6 | g.44303159A= | CA1624924122 | AARS2,POLR1C,TMEM151B | c.2162T= (p.Val721=) c.577-3784A= (n.577-3784A=) c.314-3784A= c.1871T= (p.Val624=) n.2180+127T= c.872T= (p.Val291=) c.946-138731A= (n.946-138731A=) | |
6 | g.44303159A>C | CA364337467 | AARS2,POLR1C,TMEM151B | c.2162T>G (p.Val721Gly) c.577-3784A>C (n.577-3784A>C) c.314-3784A>C c.1871T>G (p.Val624Gly) n.2180+127T>G c.872T>G (p.Val291Gly) c.946-138731A>C (n.946-138731A>C) | |
6 | g.44303159A>G | CA320581 | AARS2,POLR1C,TMEM151B | c.2162T>C (p.Val721Ala) c.577-3784A>G (n.577-3784A>G) c.314-3784A>G c.1871T>C (p.Val624Ala) n.2180+127T>C c.872T>C (p.Val291Ala) c.946-138731A>G (n.946-138731A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303159A>T | CA364337468 | AARS2,POLR1C,TMEM151B | c.2162T>A (p.Val721Glu) c.577-3784A>T (n.577-3784A>T) c.314-3784A>T c.1871T>A (p.Val624Glu) n.2180+127T>A c.872T>A (p.Val291Glu) c.946-138731A>T (n.946-138731A>T) | |
6 | g.44303159_44303163dup | CA2678953434 | AARS2,POLR1C,TMEM151B | c.2158_2162dup (p.Arg722LeufsTer?) c.577-3784_577-3780dup (n.577-3784_577-3780dup) c.314-3784_314-3780dup c.1867_1871dup (p.Arg625LeufsTer?) n.2180+123_2180+127dup c.868_872dup (p.Arg292LeufsTer?) c.946-138731_946-138727dup (n.946-138731_946-138727dup) | gnomAD v4 |
6 | g.44303160C>A | CA364337469 | AARS2,POLR1C,TMEM151B | c.2161G>T (p.Val721Leu) c.577-3783C>A (n.577-3783C>A) c.314-3783C>A c.1870G>T (p.Val624Leu) n.2180+126G>T c.871G>T (p.Val291Leu) c.946-138730C>A (n.946-138730C>A) | |
6 | g.44303160C= | CA1624924129 | AARS2,POLR1C,TMEM151B | c.2161G= (p.Val721=) c.577-3783C= (n.577-3783C=) c.314-3783C= c.1870G= (p.Val624=) n.2180+126G= c.871G= (p.Val291=) c.946-138730C= (n.946-138730C=) | |
6 | g.44303160C>G | CA364337470 | AARS2,POLR1C,TMEM151B | c.2161G>C (p.Val721Leu) c.577-3783C>G (n.577-3783C>G) c.314-3783C>G c.1870G>C (p.Val624Leu) n.2180+126G>C c.871G>C (p.Val291Leu) c.946-138730C>G (n.946-138730C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44303160C>T | CA364337471 | AARS2,POLR1C,TMEM151B | c.2161G>A (p.Val721Met) c.577-3783C>T (n.577-3783C>T) c.314-3783C>T c.1870G>A (p.Val624Met) n.2180+126G>A c.871G>A (p.Val291Met) c.946-138730C>T (n.946-138730C>T) | gnomAD v4 |
6 | g.44303161A>C | CA450390985 | AARS2,POLR1C,TMEM151B | c.2160T>G (p.Pro720=) c.577-3782A>C (n.577-3782A>C) c.314-3782A>C c.1869T>G (p.Pro623=) n.2180+125T>G c.870T>G (p.Pro290=) c.946-138729A>C (n.946-138729A>C) | |
6 | g.44303161A>G | CA450390986 | AARS2,POLR1C,TMEM151B | c.2160T>C (p.Pro720=) c.577-3782A>G (n.577-3782A>G) c.314-3782A>G c.1869T>C (p.Pro623=) n.2180+125T>C c.870T>C (p.Pro290=) c.946-138729A>G (n.946-138729A>G) | |
6 | g.44303161A>T | CA450390987 | AARS2,POLR1C,TMEM151B | c.2160T>A (p.Pro720=) c.577-3782A>T (n.577-3782A>T) c.314-3782A>T c.1869T>A (p.Pro623=) n.2180+125T>A c.870T>A (p.Pro290=) c.946-138729A>T (n.946-138729A>T) | |
6 | g.44303162G>A | CA3834074 | AARS2,POLR1C,TMEM151B | c.2159C>T (p.Pro720Leu) c.577-3781G>A (n.577-3781G>A) c.314-3781G>A c.1868C>T (p.Pro623Leu) n.2180+124C>T c.869C>T (p.Pro290Leu) c.946-138728G>A (n.946-138728G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303162G>C | CA364337472 | AARS2,POLR1C,TMEM151B | c.2159C>G (p.Pro720Arg) c.577-3781G>C (n.577-3781G>C) c.314-3781G>C c.1868C>G (p.Pro623Arg) n.2180+124C>G c.869C>G (p.Pro290Arg) c.946-138728G>C (n.946-138728G>C) | |
6 | g.44303162G= | CA1624924135 | AARS2,POLR1C,TMEM151B | c.2159C= (p.Pro720=) c.577-3781G= (n.577-3781G=) c.314-3781G= c.1868C= (p.Pro623=) n.2180+124C= c.869C= (p.Pro290=) c.946-138728G= (n.946-138728G=) | |
6 | g.44303162G>T | CA364337473 | AARS2,POLR1C,TMEM151B | c.2159C>A (p.Pro720His) c.577-3781G>T (n.577-3781G>T) c.314-3781G>T c.1868C>A (p.Pro623His) n.2180+124C>A c.869C>A (p.Pro290His) c.946-138728G>T (n.946-138728G>T) | |
6 | g.44303163G>A | CA364337476 | AARS2,POLR1C,TMEM151B | c.2158C>T (p.Pro720Ser) c.577-3780G>A (n.577-3780G>A) c.314-3780G>A c.1867C>T (p.Pro623Ser) n.2180+123C>T c.868C>T (p.Pro290Ser) c.946-138727G>A (n.946-138727G>A) | |
6 | g.44303163G>C | CA364337474 | AARS2,POLR1C,TMEM151B | c.2158C>G (p.Pro720Ala) c.577-3780G>C (n.577-3780G>C) c.314-3780G>C c.1867C>G (p.Pro623Ala) n.2180+123C>G c.868C>G (p.Pro290Ala) c.946-138727G>C (n.946-138727G>C) | |
6 | g.44303163G>T | CA364337475 | AARS2,POLR1C,TMEM151B | c.2158C>A (p.Pro720Thr) c.577-3780G>T (n.577-3780G>T) c.314-3780G>T c.1867C>A (p.Pro623Thr) n.2180+123C>A c.868C>A (p.Pro290Thr) c.946-138727G>T (n.946-138727G>T) | gnomAD v4 |
6 | g.44303164G>A | CA450390988 | AARS2,POLR1C,TMEM151B | c.2157C>T (p.Asp719=) c.577-3779G>A (n.577-3779G>A) c.314-3779G>A c.1866C>T (p.Asp622=) n.2180+122C>T c.867C>T (p.Asp289=) c.946-138726G>A (n.946-138726G>A) | |
6 | g.44303164G>C | CA364337477 | AARS2,POLR1C,TMEM151B | c.2157C>G (p.Asp719Glu) c.577-3779G>C (n.577-3779G>C) c.314-3779G>C c.1866C>G (p.Asp622Glu) n.2180+122C>G c.867C>G (p.Asp289Glu) c.946-138726G>C (n.946-138726G>C) | |
6 | g.44303164G>T | CA364337478 | AARS2,POLR1C,TMEM151B | c.2157C>A (p.Asp719Glu) c.577-3779G>T (n.577-3779G>T) c.314-3779G>T c.1866C>A (p.Asp622Glu) n.2180+122C>A c.867C>A (p.Asp289Glu) c.946-138726G>T (n.946-138726G>T) | |
6 | g.44303165T>A | CA364337479 | AARS2,POLR1C,TMEM151B | c.2156A>T (p.Asp719Val) c.577-3778T>A (n.577-3778T>A) c.314-3778T>A c.1865A>T (p.Asp622Val) n.2180+121A>T c.866A>T (p.Asp289Val) c.946-138725T>A (n.946-138725T>A) | gnomAD v4 |
6 | g.44303165T>C | CA364337480 | AARS2,POLR1C,TMEM151B | c.2156A>G (p.Asp719Gly) c.577-3778T>C (n.577-3778T>C) c.314-3778T>C c.1865A>G (p.Asp622Gly) n.2180+121A>G c.866A>G (p.Asp289Gly) c.946-138725T>C (n.946-138725T>C) | gnomAD v4 |
6 | g.44303165T>G | CA364337481 | AARS2,POLR1C,TMEM151B | c.2156A>C (p.Asp719Ala) c.577-3778T>G (n.577-3778T>G) c.314-3778T>G c.1865A>C (p.Asp622Ala) n.2180+121A>C c.866A>C (p.Asp289Ala) c.946-138725T>G (n.946-138725T>G) | |
6 | g.44303166C>A | CA364337482 | AARS2,POLR1C,TMEM151B | c.2155G>T (p.Asp719Tyr) c.577-3777C>A (n.577-3777C>A) c.314-3777C>A c.1864G>T (p.Asp622Tyr) n.2180+120G>T c.865G>T (p.Asp289Tyr) c.946-138724C>A (n.946-138724C>A) | |
6 | g.44303166C>G | CA364337483 | AARS2,POLR1C,TMEM151B | c.2155G>C (p.Asp719His) c.577-3777C>G (n.577-3777C>G) c.314-3777C>G c.1864G>C (p.Asp622His) n.2180+120G>C c.865G>C (p.Asp289His) c.946-138724C>G (n.946-138724C>G) | |
6 | g.44303166C>T | CA364337484 | AARS2,POLR1C,TMEM151B | c.2155G>A (p.Asp719Asn) c.577-3777C>T (n.577-3777C>T) c.314-3777C>T c.1864G>A (p.Asp622Asn) n.2180+120G>A c.865G>A (p.Asp289Asn) c.946-138724C>T (n.946-138724C>T) | |
6 | g.44303167T>A | CA450390989 | AARS2,POLR1C,TMEM151B | c.2154A>T (p.Pro718=) c.577-3776T>A (n.577-3776T>A) c.314-3776T>A c.1863A>T (p.Pro621=) n.2180+119A>T c.864A>T (p.Pro288=) c.946-138723T>A (n.946-138723T>A) | |
6 | g.44303167T>C | CA450390990 | AARS2,POLR1C,TMEM151B | c.2154A>G (p.Pro718=) c.577-3776T>C (n.577-3776T>C) c.314-3776T>C c.1863A>G (p.Pro621=) n.2180+119A>G c.864A>G (p.Pro288=) c.946-138723T>C (n.946-138723T>C) | |
6 | g.44303167T>G | CA450390991 | AARS2,POLR1C,TMEM151B | c.2154A>C (p.Pro718=) c.577-3776T>G (n.577-3776T>G) c.314-3776T>G c.1863A>C (p.Pro621=) n.2180+119A>C c.864A>C (p.Pro288=) c.946-138723T>G (n.946-138723T>G) | |
6 | g.44303168G>A | CA364337485 | AARS2,POLR1C,TMEM151B | c.2153C>T (p.Pro718Leu) c.577-3775G>A (n.577-3775G>A) c.314-3775G>A c.1862C>T (p.Pro621Leu) n.2180+118C>T c.863C>T (p.Pro288Leu) c.946-138722G>A (n.946-138722G>A) | |
6 | g.44303168G>C | CA364337486 | AARS2,POLR1C,TMEM151B | c.2153C>G (p.Pro718Arg) c.577-3775G>C (n.577-3775G>C) c.314-3775G>C c.1862C>G (p.Pro621Arg) n.2180+118C>G c.863C>G (p.Pro288Arg) c.946-138722G>C (n.946-138722G>C) | |
6 | g.44303168G>T | CA364337487 | AARS2,POLR1C,TMEM151B | c.2153C>A (p.Pro718Gln) c.577-3775G>T (n.577-3775G>T) c.314-3775G>T c.1862C>A (p.Pro621Gln) n.2180+118C>A c.863C>A (p.Pro288Gln) c.946-138722G>T (n.946-138722G>T) | |
6 | g.44303169G>A | CA364337489 | AARS2,POLR1C,TMEM151B | c.2152C>T (p.Pro718Ser) c.577-3774G>A (n.577-3774G>A) c.314-3774G>A c.1861C>T (p.Pro621Ser) n.2180+117C>T c.862C>T (p.Pro288Ser) c.946-138721G>A (n.946-138721G>A) | |
6 | g.44303169G>C | CA364337490 | AARS2,POLR1C,TMEM151B | c.2152C>G (p.Pro718Ala) c.577-3774G>C (n.577-3774G>C) c.314-3774G>C c.1861C>G (p.Pro621Ala) n.2180+117C>G c.862C>G (p.Pro288Ala) c.946-138721G>C (n.946-138721G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.44303169G= | CA1624924141 | AARS2,POLR1C,TMEM151B | c.2152C= (p.Pro718=) c.577-3774G= (n.577-3774G=) c.314-3774G= c.1861C= (p.Pro621=) n.2180+117C= c.862C= (p.Pro288=) c.946-138721G= (n.946-138721G=) | |
6 | g.44303169G>T | CA364337488 | AARS2,POLR1C,TMEM151B | c.2152C>A (p.Pro718Thr) c.577-3774G>T (n.577-3774G>T) c.314-3774G>T c.1861C>A (p.Pro621Thr) n.2180+117C>A c.862C>A (p.Pro288Thr) c.946-138721G>T (n.946-138721G>T) | |
6 | g.44303170G>A | CA450390992 | AARS2,POLR1C,TMEM151B | c.2151C>T (p.Tyr717=) c.577-3773G>A (n.577-3773G>A) c.314-3773G>A c.1860C>T (p.Tyr620=) n.2180+116C>T c.861C>T (p.Tyr287=) c.946-138720G>A (n.946-138720G>A) | |
6 | g.44303170G>C | CA364337492 | AARS2,POLR1C,TMEM151B | c.2151C>G (p.Tyr717Ter) c.577-3773G>C (n.577-3773G>C) c.314-3773G>C c.1860C>G (p.Tyr620Ter) n.2180+116C>G c.861C>G (p.Tyr287Ter) c.946-138720G>C (n.946-138720G>C) | |
6 | g.44303170G= | CA1624924144 | AARS2,POLR1C,TMEM151B | c.2151C= (p.Tyr717=) c.577-3773G= (n.577-3773G=) c.314-3773G= c.1860C= (p.Tyr620=) n.2180+116C= c.861C= (p.Tyr287=) c.946-138720G= (n.946-138720G=) | |
6 | g.44303170G>T | CA364337491 | AARS2,POLR1C,TMEM151B | c.2151C>A (p.Tyr717Ter) c.577-3773G>T (n.577-3773G>T) c.314-3773G>T c.1860C>A (p.Tyr620Ter) n.2180+116C>A c.861C>A (p.Tyr287Ter) c.946-138720G>T (n.946-138720G>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.44303171T>A | CA364337493 | AARS2,POLR1C,TMEM151B | c.2150A>T (p.Tyr717Phe) c.577-3772T>A (n.577-3772T>A) c.314-3772T>A c.1859A>T (p.Tyr620Phe) n.2180+115A>T c.860A>T (p.Tyr287Phe) c.946-138719T>A (n.946-138719T>A) | |
6 | g.44303171T>C | CA364337494 | AARS2,POLR1C,TMEM151B | c.2150A>G (p.Tyr717Cys) c.577-3772T>C (n.577-3772T>C) c.314-3772T>C c.1859A>G (p.Tyr620Cys) n.2180+115A>G c.860A>G (p.Tyr287Cys) c.946-138719T>C (n.946-138719T>C) | |
6 | g.44303171T>G | CA364337495 | AARS2,POLR1C,TMEM151B | c.2150A>C (p.Tyr717Ser) c.577-3772T>G (n.577-3772T>G) c.314-3772T>G c.1859A>C (p.Tyr620Ser) n.2180+115A>C c.860A>C (p.Tyr287Ser) c.946-138719T>G (n.946-138719T>G) | |
6 | g.44303172A>C | CA364337496 | AARS2,POLR1C,TMEM151B | c.2149T>G (p.Tyr717Asp) c.577-3771A>C (n.577-3771A>C) c.314-3771A>C c.1858T>G (p.Tyr620Asp) n.2180+114T>G c.859T>G (p.Tyr287Asp) c.946-138718A>C (n.946-138718A>C) | |
6 | g.44303172A>G | CA364337497 | AARS2,POLR1C,TMEM151B | c.2149T>C (p.Tyr717His) c.577-3771A>G (n.577-3771A>G) c.314-3771A>G c.1858T>C (p.Tyr620His) n.2180+114T>C c.859T>C (p.Tyr287His) c.946-138718A>G (n.946-138718A>G) | |
6 | g.44303172A>T | CA364337498 | AARS2,POLR1C,TMEM151B | c.2149T>A (p.Tyr717Asn) c.577-3771A>T (n.577-3771A>T) c.314-3771A>T c.1858T>A (p.Tyr620Asn) n.2180+114T>A c.859T>A (p.Tyr287Asn) c.946-138718A>T (n.946-138718A>T) | |
6 | g.44303173A>C | CA450390995 | AARS2,POLR1C,TMEM151B | c.2148T>G (p.Val716=) c.577-3770A>C (n.577-3770A>C) c.314-3770A>C c.1857T>G (p.Val619=) n.2180+113T>G c.858T>G (p.Val286=) c.946-138717A>C (n.946-138717A>C) | |
6 | g.44303173A>G | CA450390994 | AARS2,POLR1C,TMEM151B | c.2148T>C (p.Val716=) c.577-3770A>G (n.577-3770A>G) c.314-3770A>G c.1857T>C (p.Val619=) n.2180+113T>C c.858T>C (p.Val286=) c.946-138717A>G (n.946-138717A>G) | |
6 | g.44303173A>T | CA450390993 | AARS2,POLR1C,TMEM151B | c.2148T>A (p.Val716=) c.577-3770A>T (n.577-3770A>T) c.314-3770A>T c.1857T>A (p.Val619=) n.2180+113T>A c.858T>A (p.Val286=) c.946-138717A>T (n.946-138717A>T) | |
6 | g.44303174A= | CA1624924147 | AARS2,POLR1C,TMEM151B | c.2147T= (p.Val716=) c.577-3769A= (n.577-3769A=) c.314-3769A= c.1856T= (p.Val619=) n.2180+112T= c.857T= (p.Val286=) c.946-138716A= (n.946-138716A=) | |
6 | g.44303174A>C | CA364337499 | AARS2,POLR1C,TMEM151B | c.2147T>G (p.Val716Gly) c.577-3769A>C (n.577-3769A>C) c.314-3769A>C c.1856T>G (p.Val619Gly) n.2180+112T>G c.857T>G (p.Val286Gly) c.946-138716A>C (n.946-138716A>C) | |
6 | g.44303174A>G | CA3834075 | AARS2,POLR1C,TMEM151B | c.2147T>C (p.Val716Ala) c.577-3769A>G (n.577-3769A>G) c.314-3769A>G c.1856T>C (p.Val619Ala) n.2180+112T>C c.857T>C (p.Val286Ala) c.946-138716A>G (n.946-138716A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303174A>T | CA364337500 | AARS2,POLR1C,TMEM151B | c.2147T>A (p.Val716Asp) c.577-3769A>T (n.577-3769A>T) c.314-3769A>T c.1856T>A (p.Val619Asp) n.2180+112T>A c.857T>A (p.Val286Asp) c.946-138716A>T (n.946-138716A>T) | |
6 | g.44303178_44303287del | CA2678953461 | AARS2,POLR1C,TMEM151B | c.2145+3_2147del c.577-3765_577-3656del (n.577-3765_577-3656del) c.314-3765_314-3656del c.1854+3_1856del n.2180+3_2180+112del c.855+3_857del c.946-138712_946-138603del (n.946-138712_946-138603del) | gnomAD v4 |
6 | g.44303175C>A | CA3834077 | AARS2,POLR1C,TMEM151B | c.2146G>T (p.Val716Phe) c.577-3768C>A (n.577-3768C>A) c.314-3768C>A c.1855G>T (p.Val619Phe) n.2180+111G>T c.856G>T (p.Val286Phe) c.946-138715C>A (n.946-138715C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44303175C= | CA1624924150 | AARS2,POLR1C,TMEM151B | c.2146G= (p.Val716=) c.577-3768C= (n.577-3768C=) c.314-3768C= c.1855G= (p.Val619=) n.2180+111G= c.856G= (p.Val286=) c.946-138715C= (n.946-138715C=) | |
6 | g.44303175C>G | CA364337501 | AARS2,POLR1C,TMEM151B | c.2146G>C (p.Val716Leu) c.577-3768C>G (n.577-3768C>G) c.314-3768C>G c.1855G>C (p.Val619Leu) n.2180+111G>C c.856G>C (p.Val286Leu) c.946-138715C>G (n.946-138715C>G) | |
6 | g.44303175C>T | CA3834076 | AARS2,POLR1C,TMEM151B | c.2146G>A (p.Val716Ile) c.577-3768C>T (n.577-3768C>T) c.314-3768C>T c.1855G>A (p.Val619Ile) n.2180+111G>A c.856G>A (p.Val286Ile) c.946-138715C>T (n.946-138715C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303176C>A | CA364337504 | AARS2,POLR1C,TMEM151B | c.2146-1G>T (n.2146-1G>T) c.577-3767C>A (n.577-3767C>A) c.314-3767C>A c.1855-1G>T (n.1855-1G>T) n.2180+110G>T c.856-1G>T (n.856-1G>T) c.946-138714C>A (n.946-138714C>A) | |
6 | g.44303176C= | CA1624924152 | AARS2,POLR1C,TMEM151B | c.2146-1G= (n.2146-1G=) c.577-3767C= (n.577-3767C=) c.314-3767C= c.1855-1G= (n.1855-1G=) n.2180+110G= c.856-1G= (n.856-1G=) c.946-138714C= (n.946-138714C=) | |
6 | g.44303176C>G | CA364337502 | AARS2,POLR1C,TMEM151B | c.2146-1G>C (n.2146-1G>C) c.577-3767C>G (n.577-3767C>G) c.314-3767C>G c.1855-1G>C (n.1855-1G>C) n.2180+110G>C c.856-1G>C (n.856-1G>C) c.946-138714C>G (n.946-138714C>G) | |
6 | g.44303176C>T | CA364337503 | AARS2,POLR1C,TMEM151B | c.2146-1G>A (n.2146-1G>A) c.577-3767C>T (n.577-3767C>T) c.314-3767C>T c.1855-1G>A (n.1855-1G>A) n.2180+110G>A c.856-1G>A (n.856-1G>A) c.946-138714C>T (n.946-138714C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.44303177T>A | CA364337505 | AARS2,POLR1C,TMEM151B | c.2146-2A>T (n.2146-2A>T) c.577-3766T>A (n.577-3766T>A) c.314-3766T>A c.1855-2A>T (n.1855-2A>T) n.2180+109A>T c.856-2A>T (n.856-2A>T) c.946-138713T>A (n.946-138713T>A) | |
6 | g.44303177T>C | CA3834078 | AARS2,POLR1C,TMEM151B | c.2146-2A>G (n.2146-2A>G) c.577-3766T>C (n.577-3766T>C) c.314-3766T>C c.1855-2A>G (n.1855-2A>G) n.2180+109A>G c.856-2A>G (n.856-2A>G) c.946-138713T>C (n.946-138713T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.44303177T>G | CA364337506 | AARS2,POLR1C,TMEM151B | c.2146-2A>C (n.2146-2A>C) c.577-3766T>G (n.577-3766T>G) c.314-3766T>G c.1855-2A>C (n.1855-2A>C) n.2180+109A>C c.856-2A>C (n.856-2A>C) c.946-138713T>G (n.946-138713T>G) | |
6 | g.44303177T= | CA1624924153 | AARS2,POLR1C,TMEM151B | c.2146-2A= (n.2146-2A=) c.577-3766T= (n.577-3766T=) c.314-3766T= c.1855-2A= (n.1855-2A=) n.2180+109A= c.856-2A= (n.856-2A=) c.946-138713T= (n.946-138713T=) | |
6 | g.44303178G>C | CA2678953470 | AARS2,POLR1C,TMEM151B | c.2146-3C>G (n.2146-3C>G) c.577-3765G>C (n.577-3765G>C) c.314-3765G>C c.1855-3C>G (n.1855-3C>G) n.2180+108C>G c.856-3C>G (n.856-3C>G) c.946-138712G>C (n.946-138712G>C) | gnomAD v4 |
6 | g.44303179A= | CA1624924156 | AARS2,POLR1C,TMEM151B | c.2146-4T= (n.2146-4T=) c.577-3764A= (n.577-3764A=) c.314-3764A= c.1855-4T= (n.1855-4T=) n.2180+107T= c.856-4T= (n.856-4T=) c.946-138711A= (n.946-138711A=) | |
6 | g.44303179A>T | CA3834079 | AARS2,POLR1C,TMEM151B | c.2146-4T>A (n.2146-4T>A) c.577-3764A>T (n.577-3764A>T) c.314-3764A>T c.1855-4T>A (n.1855-4T>A) n.2180+107T>A c.856-4T>A (n.856-4T>A) c.946-138711A>T (n.946-138711A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44303181G= | CA1624924159 | AARS2,POLR1C,TMEM151B | c.2146-6C= (n.2146-6C=) c.577-3762G= (n.577-3762G=) c.314-3762G= c.1855-6C= (n.1855-6C=) n.2180+105C= c.856-6C= (n.856-6C=) c.946-138709G= (n.946-138709G=) | |
6 | g.44303181G>T | CA3834080 | AARS2,POLR1C,TMEM151B | c.2146-6C>A (n.2146-6C>A) c.577-3762G>T (n.577-3762G>T) c.314-3762G>T c.1855-6C>A (n.1855-6C>A) n.2180+105C>A c.856-6C>A (n.856-6C>A) c.946-138709G>T (n.946-138709G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.44303184A= | CA1624924161 | AARS2,POLR1C,TMEM151B | c.2146-9T= (n.2146-9T=) c.577-3759A= (n.577-3759A=) c.314-3759A= c.1855-9T= (n.1855-9T=) n.2180+102T= c.856-9T= (n.856-9T=) c.946-138706A= (n.946-138706A=) | |
6 | g.44303184A>G | CA3834081 | AARS2,POLR1C,TMEM151B | c.2146-9T>C (n.2146-9T>C) c.577-3759A>G (n.577-3759A>G) c.314-3759A>G c.1855-9T>C (n.1855-9T>C) n.2180+102T>C c.856-9T>C (n.856-9T>C) c.946-138706A>G (n.946-138706A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |