| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 6 | g.44302072C>G | CA3833929 | AARS2,POLR1C,TMEM151B | c.2586G>C (p.Leu862=) c.577-4871C>G (n.577-4871C>G) c.314-4871C>G c.2295G>C (p.Leu765=) n.2511G>C c.1296G>C (p.Leu432=) c.946-139818C>G (n.946-139818C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44302072C>T | CA450315883 | AARS2,POLR1C,TMEM151B | c.2586G>A (p.Leu862=) c.577-4871C>T (n.577-4871C>T) c.314-4871C>T c.2295G>A (p.Leu765=) n.2511G>A c.1296G>A (p.Leu432=) c.946-139818C>T (n.946-139818C>T) | |
| 6 | g.44302073A= | CA1624922857 | AARS2,POLR1C,TMEM151B | c.2585T= (p.Leu862=) c.577-4870A= (n.577-4870A=) c.314-4870A= c.2294T= (p.Leu765=) n.2510T= c.1295T= (p.Leu432=) c.946-139817A= (n.946-139817A=) | |
| 6 | g.44302073A>C | CA364336426 | AARS2,POLR1C,TMEM151B | c.2585T>G (p.Leu862Arg) c.577-4870A>C (n.577-4870A>C) c.314-4870A>C c.2294T>G (p.Leu765Arg) n.2510T>G c.1295T>G (p.Leu432Arg) c.946-139817A>C (n.946-139817A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.44302073A>G | CA364336427 | AARS2,POLR1C,TMEM151B | c.2585T>C (p.Leu862Pro) c.577-4870A>G (n.577-4870A>G) c.314-4870A>G c.2294T>C (p.Leu765Pro) n.2510T>C c.1295T>C (p.Leu432Pro) c.946-139817A>G (n.946-139817A>G) | |
| 6 | g.44302073A>T | CA364336428 | AARS2,POLR1C,TMEM151B | c.2585T>A (p.Leu862Gln) c.577-4870A>T (n.577-4870A>T) c.314-4870A>T c.2294T>A (p.Leu765Gln) n.2510T>A c.1295T>A (p.Leu432Gln) c.946-139817A>T (n.946-139817A>T) | |
| 6 | g.44302074G>A | CA450315886 | AARS2,POLR1C,TMEM151B | c.2584C>T (p.Leu862=) c.577-4869G>A (n.577-4869G>A) c.314-4869G>A c.2293C>T (p.Leu765=) n.2509C>T c.1294C>T (p.Leu432=) c.946-139816G>A (n.946-139816G>A) | |
| 6 | g.44302074G>C | CA364336430 | AARS2,POLR1C,TMEM151B | c.2584C>G (p.Leu862Val) c.577-4869G>C (n.577-4869G>C) c.314-4869G>C c.2293C>G (p.Leu765Val) n.2509C>G c.1294C>G (p.Leu432Val) c.946-139816G>C (n.946-139816G>C) | |
| 6 | g.44302074G>T | CA364336432 | AARS2,POLR1C,TMEM151B | c.2584C>A (p.Leu862Met) c.577-4869G>T (n.577-4869G>T) c.314-4869G>T c.2293C>A (p.Leu765Met) n.2509C>A c.1294C>A (p.Leu432Met) c.946-139816G>T (n.946-139816G>T) | |
| 6 | g.44302075C>A | CA364336436 | AARS2,POLR1C,TMEM151B | c.2583G>T (p.Lys861Asn) c.577-4868C>A (n.577-4868C>A) c.314-4868C>A c.2292G>T (p.Lys764Asn) n.2508G>T c.1293G>T (p.Lys431Asn) c.946-139815C>A (n.946-139815C>A) | |
| 6 | g.44302075C= | CA1624922858 | AARS2,POLR1C,TMEM151B | c.2583G= (p.Lys861=) c.577-4868C= (n.577-4868C=) c.314-4868C= c.2292G= (p.Lys764=) n.2508G= c.1293G= (p.Lys431=) c.946-139815C= (n.946-139815C=) | |
| 6 | g.44302075C>G | CA364336434 | AARS2,POLR1C,TMEM151B | c.2583G>C (p.Lys861Asn) c.577-4868C>G (n.577-4868C>G) c.314-4868C>G c.2292G>C (p.Lys764Asn) n.2508G>C c.1293G>C (p.Lys431Asn) c.946-139815C>G (n.946-139815C>G) | |
| 6 | g.44302075C>T | CA3833930 | AARS2,POLR1C,TMEM151B | c.2583G>A (p.Lys861=) c.577-4868C>T (n.577-4868C>T) c.314-4868C>T c.2292G>A (p.Lys764=) n.2508G>A c.1293G>A (p.Lys431=) c.946-139815C>T (n.946-139815C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44302076T>A | CA364336438 | AARS2,POLR1C,TMEM151B | c.2582A>T (p.Lys861Met) c.577-4867T>A (n.577-4867T>A) c.314-4867T>A c.2291A>T (p.Lys764Met) n.2507A>T c.1292A>T (p.Lys431Met) c.946-139814T>A (n.946-139814T>A) | |
| 6 | g.44302076T>C | CA364336439 | AARS2,POLR1C,TMEM151B | c.2582A>G (p.Lys861Arg) c.577-4867T>C (n.577-4867T>C) c.314-4867T>C c.2291A>G (p.Lys764Arg) n.2507A>G c.1292A>G (p.Lys431Arg) c.946-139814T>C (n.946-139814T>C) | |
| 6 | g.44302076T>G | CA364336441 | AARS2,POLR1C,TMEM151B | c.2582A>C (p.Lys861Thr) c.577-4867T>G (n.577-4867T>G) c.314-4867T>G c.2291A>C (p.Lys764Thr) n.2507A>C c.1292A>C (p.Lys431Thr) c.946-139814T>G (n.946-139814T>G) | |
| 6 | g.44302077T>A | CA364336443 | AARS2,POLR1C,TMEM151B | c.2581A>T (p.Lys861Ter) c.577-4866T>A (n.577-4866T>A) c.314-4866T>A c.2290A>T (p.Lys764Ter) n.2506A>T c.1291A>T (p.Lys431Ter) c.946-139813T>A (n.946-139813T>A) | |
| 6 | g.44302077T>C | CA364336444 | AARS2,POLR1C,TMEM151B | c.2581A>G (p.Lys861Glu) c.577-4866T>C (n.577-4866T>C) c.314-4866T>C c.2290A>G (p.Lys764Glu) n.2506A>G c.1291A>G (p.Lys431Glu) c.946-139813T>C (n.946-139813T>C) | |
| 6 | g.44302077T>G | CA364336446 | AARS2,POLR1C,TMEM151B | c.2581A>C (p.Lys861Gln) c.577-4866T>G (n.577-4866T>G) c.314-4866T>G c.2290A>C (p.Lys764Gln) n.2506A>C c.1291A>C (p.Lys431Gln) c.946-139813T>G (n.946-139813T>G) | |
| 6 | g.44302078A>C | CA450315891 | AARS2,POLR1C,TMEM151B | c.2580T>G (p.Arg860=) c.577-4865A>C (n.577-4865A>C) c.314-4865A>C c.2289T>G (p.Arg763=) n.2505T>G c.1290T>G (p.Arg430=) c.946-139812A>C (n.946-139812A>C) | |
| 6 | g.44302078A>G | CA450315892 | AARS2,POLR1C,TMEM151B | c.2580T>C (p.Arg860=) c.577-4865A>G (n.577-4865A>G) c.314-4865A>G c.2289T>C (p.Arg763=) n.2505T>C c.1290T>C (p.Arg430=) c.946-139812A>G (n.946-139812A>G) | |
| 6 | g.44302078A>T | CA450315893 | AARS2,POLR1C,TMEM151B | c.2580T>A (p.Arg860=) c.577-4865A>T (n.577-4865A>T) c.314-4865A>T c.2289T>A (p.Arg763=) n.2505T>A c.1290T>A (p.Arg430=) c.946-139812A>T (n.946-139812A>T) | |
| 6 | g.44302079C>A | CA364336448 | AARS2,POLR1C,TMEM151B | c.2579G>T (p.Arg860Leu) c.577-4864C>A (n.577-4864C>A) c.314-4864C>A c.2288G>T (p.Arg763Leu) n.2504G>T c.1289G>T (p.Arg430Leu) c.946-139811C>A (n.946-139811C>A) | gnomAD v4 |
| 6 | g.44302079C= | CA1624922859 | AARS2,POLR1C,TMEM151B | c.2579G= (p.Arg860=) c.577-4864C= (n.577-4864C=) c.314-4864C= c.2288G= (p.Arg763=) n.2504G= c.1289G= (p.Arg430=) c.946-139811C= (n.946-139811C=) | |
| 6 | g.44302079C>G | CA364336450 | AARS2,POLR1C,TMEM151B | c.2579G>C (p.Arg860Pro) c.577-4864C>G (n.577-4864C>G) c.314-4864C>G c.2288G>C (p.Arg763Pro) n.2504G>C c.1289G>C (p.Arg430Pro) c.946-139811C>G (n.946-139811C>G) | |
| 6 | g.44302079C>T | CA3833931 | AARS2,POLR1C,TMEM151B | c.2579G>A (p.Arg860His) c.577-4864C>T (n.577-4864C>T) c.314-4864C>T c.2288G>A (p.Arg763His) n.2504G>A c.1289G>A (p.Arg430His) c.946-139811C>T (n.946-139811C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.44302080G>A | CA3833932 | AARS2,POLR1C,TMEM151B | c.2578C>T (p.Arg860Cys) c.577-4863G>A (n.577-4863G>A) c.314-4863G>A c.2287C>T (p.Arg763Cys) n.2503C>T c.1288C>T (p.Arg430Cys) c.946-139810G>A (n.946-139810G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44302080G>C | CA364336452 | AARS2,POLR1C,TMEM151B | c.2578C>G (p.Arg860Gly) c.577-4863G>C (n.577-4863G>C) c.314-4863G>C c.2287C>G (p.Arg763Gly) n.2503C>G c.1288C>G (p.Arg430Gly) c.946-139810G>C (n.946-139810G>C) | gnomAD v4 |
| 6 | g.44302080G= | CA1624922860 | AARS2,POLR1C,TMEM151B | c.2578C= (p.Arg860=) c.577-4863G= (n.577-4863G=) c.314-4863G= c.2287C= (p.Arg763=) n.2503C= c.1288C= (p.Arg430=) c.946-139810G= (n.946-139810G=) | |
| 6 | g.44302080G>T | CA364336454 | AARS2,POLR1C,TMEM151B | c.2578C>A (p.Arg860Ser) c.577-4863G>T (n.577-4863G>T) c.314-4863G>T c.2287C>A (p.Arg763Ser) n.2503C>A c.1288C>A (p.Arg430Ser) c.946-139810G>T (n.946-139810G>T) | |
| 6 | g.44302081G>A | CA3833933 | AARS2,POLR1C,TMEM151B | c.2577C>T (p.Ile859=) c.577-4862G>A (n.577-4862G>A) c.314-4862G>A c.2286C>T (p.Ile762=) n.2502C>T c.1287C>T (p.Ile429=) c.946-139809G>A (n.946-139809G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.44302081G>C | CA364336456 | AARS2,POLR1C,TMEM151B | c.2577C>G (p.Ile859Met) c.577-4862G>C (n.577-4862G>C) c.314-4862G>C c.2286C>G (p.Ile762Met) n.2502C>G c.1287C>G (p.Ile429Met) c.946-139809G>C (n.946-139809G>C) | |
| 6 | g.44302081G= | CA1624922861 | AARS2,POLR1C,TMEM151B | c.2577C= (p.Ile859=) c.577-4862G= (n.577-4862G=) c.314-4862G= c.2286C= (p.Ile762=) n.2502C= c.1287C= (p.Ile429=) c.946-139809G= (n.946-139809G=) | |
| 6 | g.44302081G>T | CA450315897 | AARS2,POLR1C,TMEM151B | c.2577C>A (p.Ile859=) c.577-4862G>T (n.577-4862G>T) c.314-4862G>T c.2286C>A (p.Ile762=) n.2502C>A c.1287C>A (p.Ile429=) c.946-139809G>T (n.946-139809G>T) | |
| 6 | g.44302082A>C | CA364336458 | AARS2,POLR1C,TMEM151B | c.2576T>G (p.Ile859Ser) c.577-4861A>C (n.577-4861A>C) c.314-4861A>C c.2285T>G (p.Ile762Ser) n.2501T>G c.1286T>G (p.Ile429Ser) c.946-139808A>C (n.946-139808A>C) | |
| 6 | g.44302082A>G | CA364336459 | AARS2,POLR1C,TMEM151B | c.2576T>C (p.Ile859Thr) c.577-4861A>G (n.577-4861A>G) c.314-4861A>G c.2285T>C (p.Ile762Thr) n.2501T>C c.1286T>C (p.Ile429Thr) c.946-139808A>G (n.946-139808A>G) | |
| 6 | g.44302082A>T | CA364336461 | AARS2,POLR1C,TMEM151B | c.2576T>A (p.Ile859Asn) c.577-4861A>T (n.577-4861A>T) c.314-4861A>T c.2285T>A (p.Ile762Asn) n.2501T>A c.1286T>A (p.Ile429Asn) c.946-139808A>T (n.946-139808A>T) | |
| 6 | g.44302083T>A | CA364336463 | AARS2,POLR1C,TMEM151B | c.2575A>T (p.Ile859Phe) c.577-4860T>A (n.577-4860T>A) c.314-4860T>A c.2284A>T (p.Ile762Phe) n.2500A>T c.1285A>T (p.Ile429Phe) c.946-139807T>A (n.946-139807T>A) | |
| 6 | g.44302083T>C | CA364336464 | AARS2,POLR1C,TMEM151B | c.2575A>G (p.Ile859Val) c.577-4860T>C (n.577-4860T>C) c.314-4860T>C c.2284A>G (p.Ile762Val) n.2500A>G c.1285A>G (p.Ile429Val) c.946-139807T>C (n.946-139807T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.44302083T>G | CA364336466 | AARS2,POLR1C,TMEM151B | c.2575A>C (p.Ile859Leu) c.577-4860T>G (n.577-4860T>G) c.314-4860T>G c.2284A>C (p.Ile762Leu) n.2500A>C c.1285A>C (p.Ile429Leu) c.946-139807T>G (n.946-139807T>G) | |
| 6 | g.44302083T= | CA1624922862 | AARS2,POLR1C,TMEM151B | c.2575A= (p.Ile859=) c.577-4860T= (n.577-4860T=) c.314-4860T= c.2284A= (p.Ile762=) n.2500A= c.1285A= (p.Ile429=) c.946-139807T= (n.946-139807T=) |