| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |