| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44302059C>A | CA3833924 | AARS2,POLR1C,TMEM151B | c.2598+1G>T (n.2598+1G>T) c.577-4884C>A (n.577-4884C>A) c.314-4884C>A c.2307+1G>T (n.2307+1G>T) n.2523+1G>T c.1308+1G>T (n.1308+1G>T) c.946-139831C>A (n.946-139831C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44302059C= | CA1624922844 | AARS2,POLR1C,TMEM151B | c.2598+1G= (n.2598+1G=) c.577-4884C= (n.577-4884C=) c.314-4884C= c.2307+1G= (n.2307+1G=) n.2523+1G= c.1308+1G= (n.1308+1G=) c.946-139831C= (n.946-139831C=) | |
| 6 | g.44302059C>G | CA364336376 | AARS2,POLR1C,TMEM151B | c.2598+1G>C (n.2598+1G>C) c.577-4884C>G (n.577-4884C>G) c.314-4884C>G c.2307+1G>C (n.2307+1G>C) n.2523+1G>C c.1308+1G>C (n.1308+1G>C) c.946-139831C>G (n.946-139831C>G) | |
| 6 | g.44302059C>T | CA364336378 | AARS2,POLR1C,TMEM151B | c.2598+1G>A (n.2598+1G>A) c.577-4884C>T (n.577-4884C>T) c.314-4884C>T c.2307+1G>A (n.2307+1G>A) n.2523+1G>A c.1308+1G>A (n.1308+1G>A) c.946-139831C>T (n.946-139831C>T) | |
| 6 | g.44302060del | CA2678953029 | AARS2,POLR1C,TMEM151B | c.2598+1del c.577-4883del (n.577-4883del) c.314-4883del c.2307+1del n.2523+1del c.1308+1del c.946-139830del (n.946-139830del) | gnomAD v4 |
| 6 | g.44302060C>A | CA364336380 | AARS2,POLR1C,TMEM151B | c.2598G>T (p.Gln866His) c.577-4883C>A (n.577-4883C>A) c.314-4883C>A c.2307G>T (p.Gln769His) n.2523G>T c.1308G>T (p.Gln436His) c.946-139830C>A (n.946-139830C>A) | gnomAD v4 |
| 6 | g.44302060C>G | CA364336382 | AARS2,POLR1C,TMEM151B | c.2598G>C (p.Gln866His) c.577-4883C>G (n.577-4883C>G) c.314-4883C>G c.2307G>C (p.Gln769His) n.2523G>C c.1308G>C (p.Gln436His) c.946-139830C>G (n.946-139830C>G) | |
| 6 | g.44302060C>T | CA450315868 | AARS2,POLR1C,TMEM151B | c.2598G>A (p.Gln866=) c.577-4883C>T (n.577-4883C>T) c.314-4883C>T c.2307G>A (p.Gln769=) n.2523G>A c.1308G>A (p.Gln436=) c.946-139830C>T (n.946-139830C>T) | gnomAD v4 |
| 6 | g.44302061T>A | CA364336387 | AARS2,POLR1C,TMEM151B | c.2597A>T (p.Gln866Leu) c.577-4882T>A (n.577-4882T>A) c.314-4882T>A c.2306A>T (p.Gln769Leu) n.2522A>T c.1307A>T (p.Gln436Leu) c.946-139829T>A (n.946-139829T>A) | |
| 6 | g.44302061T>C | CA364336386 | AARS2,POLR1C,TMEM151B | c.2597A>G (p.Gln866Arg) c.577-4882T>C (n.577-4882T>C) c.314-4882T>C c.2306A>G (p.Gln769Arg) n.2522A>G c.1307A>G (p.Gln436Arg) c.946-139829T>C (n.946-139829T>C) | |
| 6 | g.44302061T>G | CA364336384 | AARS2,POLR1C,TMEM151B | c.2597A>C (p.Gln866Pro) c.577-4882T>G (n.577-4882T>G) c.314-4882T>G c.2306A>C (p.Gln769Pro) n.2522A>C c.1307A>C (p.Gln436Pro) c.946-139829T>G (n.946-139829T>G) | |
| 6 | g.44302062G>A | CA3833925 | AARS2,POLR1C,TMEM151B | c.2596C>T (p.Gln866Ter) c.577-4881G>A (n.577-4881G>A) c.314-4881G>A c.2305C>T (p.Gln769Ter) n.2521C>T c.1306C>T (p.Gln436Ter) c.946-139828G>A (n.946-139828G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44302062G>C | CA364336389 | AARS2,POLR1C,TMEM151B | c.2596C>G (p.Gln866Glu) c.577-4881G>C (n.577-4881G>C) c.314-4881G>C c.2305C>G (p.Gln769Glu) n.2521C>G c.1306C>G (p.Gln436Glu) c.946-139828G>C (n.946-139828G>C) | |
| 6 | g.44302062G= | CA1624922848 | AARS2,POLR1C,TMEM151B | c.2596C= (p.Gln866=) c.577-4881G= (n.577-4881G=) c.314-4881G= c.2305C= (p.Gln769=) n.2521C= c.1306C= (p.Gln436=) c.946-139828G= (n.946-139828G=) | |
| 6 | g.44302062G>T | CA364336391 | AARS2,POLR1C,TMEM151B | c.2596C>A (p.Gln866Lys) c.577-4881G>T (n.577-4881G>T) c.314-4881G>T c.2305C>A (p.Gln769Lys) n.2521C>A c.1306C>A (p.Gln436Lys) c.946-139828G>T (n.946-139828G>T) | |
| 6 | g.44302063T>A | CA450315872 | AARS2,POLR1C,TMEM151B | c.2595A>T (p.Gly865=) c.577-4880T>A (n.577-4880T>A) c.314-4880T>A c.2304A>T (p.Gly768=) n.2520A>T c.1305A>T (p.Gly435=) c.946-139827T>A (n.946-139827T>A) | |
| 6 | g.44302063T>C | CA450315874 | AARS2,POLR1C,TMEM151B | c.2595A>G (p.Gly865=) c.577-4880T>C (n.577-4880T>C) c.314-4880T>C c.2304A>G (p.Gly768=) n.2520A>G c.1305A>G (p.Gly435=) c.946-139827T>C (n.946-139827T>C) | dbSNP |
| 6 | g.44302063T>G | CA450315873 | AARS2,POLR1C,TMEM151B | c.2595A>C (p.Gly865=) c.577-4880T>G (n.577-4880T>G) c.314-4880T>G c.2304A>C (p.Gly768=) n.2520A>C c.1305A>C (p.Gly435=) c.946-139827T>G (n.946-139827T>G) | |
| 6 | g.44302063T= | CA1624922850 | AARS2,POLR1C,TMEM151B | c.2595A= (p.Gly865=) c.577-4880T= (n.577-4880T=) c.314-4880T= c.2304A= (p.Gly768=) n.2520A= c.1305A= (p.Gly435=) c.946-139827T= (n.946-139827T=) | |
| 6 | g.44302064C>A | CA364336392 | AARS2,POLR1C,TMEM151B | c.2594G>T (p.Gly865Val) c.577-4879C>A (n.577-4879C>A) c.314-4879C>A c.2303G>T (p.Gly768Val) n.2519G>T c.1304G>T (p.Gly435Val) c.946-139826C>A (n.946-139826C>A) | |
| 6 | g.44302064C= | CA1624922851 | AARS2,POLR1C,TMEM151B | c.2594G= (p.Gly865=) c.577-4879C= (n.577-4879C=) c.314-4879C= c.2303G= (p.Gly768=) n.2519G= c.1304G= (p.Gly435=) c.946-139826C= (n.946-139826C=) | |
| 6 | g.44302064C>G | CA3833926 | AARS2,POLR1C,TMEM151B | c.2594G>C (p.Gly865Ala) c.577-4879C>G (n.577-4879C>G) c.314-4879C>G c.2303G>C (p.Gly768Ala) n.2519G>C c.1304G>C (p.Gly435Ala) c.946-139826C>G (n.946-139826C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44302064C>T | CA364336395 | AARS2,POLR1C,TMEM151B | c.2594G>A (p.Gly865Glu) c.577-4879C>T (n.577-4879C>T) c.314-4879C>T c.2303G>A (p.Gly768Glu) n.2519G>A c.1304G>A (p.Gly435Glu) c.946-139826C>T (n.946-139826C>T) | |
| 6 | g.44302065C>A | CA364336396 | AARS2,POLR1C,TMEM151B | c.2593G>T (p.Gly865Ter) c.577-4878C>A (n.577-4878C>A) c.314-4878C>A c.2302G>T (p.Gly768Ter) n.2518G>T c.1303G>T (p.Gly435Ter) c.946-139825C>A (n.946-139825C>A) | |
| 6 | g.44302065C= | CA1624922852 | AARS2,POLR1C,TMEM151B | c.2593G= (p.Gly865=) c.577-4878C= (n.577-4878C=) c.314-4878C= c.2302G= (p.Gly768=) n.2518G= c.1303G= (p.Gly435=) c.946-139825C= (n.946-139825C=) | |
| 6 | g.44302065C>G | CA364336398 | AARS2,POLR1C,TMEM151B | c.2593G>C (p.Gly865Arg) c.577-4878C>G (n.577-4878C>G) c.314-4878C>G c.2302G>C (p.Gly768Arg) n.2518G>C c.1303G>C (p.Gly435Arg) c.946-139825C>G (n.946-139825C>G) | |
| 6 | g.44302065C>T | CA3833927 | AARS2,POLR1C,TMEM151B | c.2593G>A (p.Gly865Arg) c.577-4878C>T (n.577-4878C>T) c.314-4878C>T c.2302G>A (p.Gly768Arg) n.2518G>A c.1303G>A (p.Gly435Arg) c.946-139825C>T (n.946-139825C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44302066C>A | CA364336400 | AARS2,POLR1C,TMEM151B | c.2592G>T (p.Met864Ile) c.577-4877C>A (n.577-4877C>A) c.314-4877C>A c.2301G>T (p.Met767Ile) n.2517G>T c.1302G>T (p.Met434Ile) c.946-139824C>A (n.946-139824C>A) | |
| 6 | g.44302066C= | CA1624922853 | AARS2,POLR1C,TMEM151B | c.2592G= (p.Met864=) c.577-4877C= (n.577-4877C=) c.314-4877C= c.2301G= (p.Met767=) n.2517G= c.1302G= (p.Met434=) c.946-139824C= (n.946-139824C=) | |
| 6 | g.44302066C>G | CA3833928 | AARS2,POLR1C,TMEM151B | c.2592G>C (p.Met864Ile) c.577-4877C>G (n.577-4877C>G) c.314-4877C>G c.2301G>C (p.Met767Ile) n.2517G>C c.1302G>C (p.Met434Ile) c.946-139824C>G (n.946-139824C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44302066C>T | CA364336403 | AARS2,POLR1C,TMEM151B | c.2592G>A (p.Met864Ile) c.577-4877C>T (n.577-4877C>T) c.314-4877C>T c.2301G>A (p.Met767Ile) n.2517G>A c.1302G>A (p.Met434Ile) c.946-139824C>T (n.946-139824C>T) | gnomAD v4 |
| 6 | g.44302067A>C | CA364336405 | AARS2,POLR1C,TMEM151B | c.2591T>G (p.Met864Arg) c.577-4876A>C (n.577-4876A>C) c.314-4876A>C c.2300T>G (p.Met767Arg) n.2516T>G c.1301T>G (p.Met434Arg) c.946-139823A>C (n.946-139823A>C) | |
| 6 | g.44302067A>G | CA364336406 | AARS2,POLR1C,TMEM151B | c.2591T>C (p.Met864Thr) c.577-4876A>G (n.577-4876A>G) c.314-4876A>G c.2300T>C (p.Met767Thr) n.2516T>C c.1301T>C (p.Met434Thr) c.946-139823A>G (n.946-139823A>G) | |
| 6 | g.44302067A>T | CA364336408 | AARS2,POLR1C,TMEM151B | c.2591T>A (p.Met864Lys) c.577-4876A>T (n.577-4876A>T) c.314-4876A>T c.2300T>A (p.Met767Lys) n.2516T>A c.1301T>A (p.Met434Lys) c.946-139823A>T (n.946-139823A>T) | |
| 6 | g.44302068T>A | CA364336409 | AARS2,POLR1C,TMEM151B | c.2590A>T (p.Met864Leu) c.577-4875T>A (n.577-4875T>A) c.314-4875T>A c.2299A>T (p.Met767Leu) n.2515A>T c.1300A>T (p.Met434Leu) c.946-139822T>A (n.946-139822T>A) | |
| 6 | g.44302068T>C | CA364336411 | AARS2,POLR1C,TMEM151B | c.2590A>G (p.Met864Val) c.577-4875T>C (n.577-4875T>C) c.314-4875T>C c.2299A>G (p.Met767Val) n.2515A>G c.1300A>G (p.Met434Val) c.946-139822T>C (n.946-139822T>C) | |
| 6 | g.44302068T>G | CA364336412 | AARS2,POLR1C,TMEM151B | c.2590A>C (p.Met864Leu) c.577-4875T>G (n.577-4875T>G) c.314-4875T>G c.2299A>C (p.Met767Leu) n.2515A>C c.1300A>C (p.Met434Leu) c.946-139822T>G (n.946-139822T>G) | |
| 6 | g.44302069T>A | CA364336414 | AARS2,POLR1C,TMEM151B | c.2589A>T (p.Gln863His) c.577-4874T>A (n.577-4874T>A) c.314-4874T>A c.2298A>T (p.Gln766His) n.2514A>T c.1299A>T (p.Gln433His) c.946-139821T>A (n.946-139821T>A) | |
| 6 | g.44302069T>C | CA450315879 | AARS2,POLR1C,TMEM151B | c.2589A>G (p.Gln863=) c.577-4874T>C (n.577-4874T>C) c.314-4874T>C c.2298A>G (p.Gln766=) n.2514A>G c.1299A>G (p.Gln433=) c.946-139821T>C (n.946-139821T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44302069T>G | CA364336416 | AARS2,POLR1C,TMEM151B | c.2589A>C (p.Gln863His) c.577-4874T>G (n.577-4874T>G) c.314-4874T>G c.2298A>C (p.Gln766His) n.2514A>C c.1299A>C (p.Gln433His) c.946-139821T>G (n.946-139821T>G) | COSMIC |
| 6 | g.44302069T= | CA1624922854 | AARS2,POLR1C,TMEM151B | c.2589A= (p.Gln863=) c.577-4874T= (n.577-4874T=) c.314-4874T= c.2298A= (p.Gln766=) n.2514A= c.1299A= (p.Gln433=) c.946-139821T= (n.946-139821T=) | |
| 6 | g.44302070T>A | CA364336420 | AARS2,POLR1C,TMEM151B | c.2588A>T (p.Gln863Leu) c.577-4873T>A (n.577-4873T>A) c.314-4873T>A c.2297A>T (p.Gln766Leu) n.2513A>T c.1298A>T (p.Gln433Leu) c.946-139820T>A (n.946-139820T>A) | |
| 6 | g.44302070T>C | CA364336418 | AARS2,POLR1C,TMEM151B | c.2588A>G (p.Gln863Arg) c.577-4873T>C (n.577-4873T>C) c.314-4873T>C c.2297A>G (p.Gln766Arg) n.2513A>G c.1298A>G (p.Gln433Arg) c.946-139820T>C (n.946-139820T>C) | |
| 6 | g.44302070T>G | CA364336417 | AARS2,POLR1C,TMEM151B | c.2588A>C (p.Gln863Pro) c.577-4873T>G (n.577-4873T>G) c.314-4873T>G c.2297A>C (p.Gln766Pro) n.2513A>C c.1298A>C (p.Gln433Pro) c.946-139820T>G (n.946-139820T>G) | |
| 6 | g.44302071G>A | CA364336422 | AARS2,POLR1C,TMEM151B | c.2587C>T (p.Gln863Ter) c.577-4872G>A (n.577-4872G>A) c.314-4872G>A c.2296C>T (p.Gln766Ter) n.2512C>T c.1297C>T (p.Gln433Ter) c.946-139819G>A (n.946-139819G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.44302071G>C | CA364336425 | AARS2,POLR1C,TMEM151B | c.2587C>G (p.Gln863Glu) c.577-4872G>C (n.577-4872G>C) c.314-4872G>C c.2296C>G (p.Gln766Glu) n.2512C>G c.1297C>G (p.Gln433Glu) c.946-139819G>C (n.946-139819G>C) | |
| 6 | g.44302071G= | CA1624922855 | AARS2,POLR1C,TMEM151B | c.2587C= (p.Gln863=) c.577-4872G= (n.577-4872G=) c.314-4872G= c.2296C= (p.Gln766=) n.2512C= c.1297C= (p.Gln433=) c.946-139819G= (n.946-139819G=) | |
| 6 | g.44302071G>T | CA364336424 | AARS2,POLR1C,TMEM151B | c.2587C>A (p.Gln863Lys) c.577-4872G>T (n.577-4872G>T) c.314-4872G>T c.2296C>A (p.Gln766Lys) n.2512C>A c.1297C>A (p.Gln433Lys) c.946-139819G>T (n.946-139819G>T) | |
| 6 | g.44302072C>A | CA450315882 | AARS2,POLR1C,TMEM151B | c.2586G>T (p.Leu862=) c.577-4871C>A (n.577-4871C>A) c.314-4871C>A c.2295G>T (p.Leu765=) n.2511G>T c.1296G>T (p.Leu432=) c.946-139818C>A (n.946-139818C>A) | |
| 6 | g.44302072C= | CA1624922856 | AARS2,POLR1C,TMEM151B | c.2586G= (p.Leu862=) c.577-4871C= (n.577-4871C=) c.314-4871C= c.2295G= (p.Leu765=) n.2511G= c.1296G= (p.Leu432=) c.946-139818C= (n.946-139818C=) |