Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.44311098A=CA1624928794AARS2,POLR1Cc.645T= (p.Thr215=)
n.855+3456A=
n.680T=
c.-374T= (p.=)
c.946-130792A= (p.=)
6g.44311098A>CCA450391445AARS2,POLR1Cc.645T>G (p.Thr215=)
n.855+3456A>C
n.680T>G
c.-374T>G (p.=)
c.946-130792A>C (p.=)
6g.44311098A>GCA3834582AARS2,POLR1Cc.645T>C (p.Thr215=)
n.855+3456A>G
n.680T>C
c.-374T>C (p.=)
c.946-130792A>G (p.=)
dbSNP ExAC gnomAD
6g.44311098A>TCA450391443AARS2,POLR1Cc.645T>A (p.Thr215=)
n.855+3456A>T
n.680T>A
c.-374T>A (p.=)
c.946-130792A>T (p.=)
6g.44311099G>ACA3834583AARS2,POLR1Cc.644C>T (p.Thr215Ile)
n.855+3457G>A
n.679C>T
c.-375C>T (p.=)
c.946-130791G>A (p.=)
dbSNP ExAC gnomAD
6g.44311099G>CCA364340970AARS2,POLR1Cc.644C>G (p.Thr215Ser)
n.855+3457G>C
n.679C>G
c.-375C>G (p.=)
c.946-130791G>C (p.=)
6g.44311099G=CA1624928798AARS2,POLR1Cc.644C= (p.Thr215=)
n.855+3457G=
n.679C=
c.-375C= (p.=)
c.946-130791G= (p.=)
6g.44311099G>TCA364340969AARS2,POLR1Cc.644C>A (p.Thr215Asn)
n.855+3457G>T
n.679C>A
c.-375C>A (p.=)
c.946-130791G>T (p.=)
6g.44311100T>ACA364340973AARS2,POLR1Cc.643A>T (p.Thr215Ser)
n.855+3458T>A
n.678A>T
c.-376A>T (p.=)
c.946-130790T>A (p.=)
COSMIC
6g.44311100T>CCA364340971AARS2,POLR1Cc.643A>G (p.Thr215Ala)
n.855+3458T>C
n.678A>G
c.-376A>G (p.=)
c.946-130790T>C (p.=)
6g.44311100T>GCA364340972AARS2,POLR1Cc.643A>C (p.Thr215Pro)
n.855+3458T>G
n.678A>C
c.-376A>C (p.=)
c.946-130790T>G (p.=)
6g.44311101A=CA1624928801AARS2,POLR1Cc.642T= (p.Asp214=)
n.855+3459A=
n.677T=
c.-377T= (p.=)
c.946-130789A= (p.=)
6g.44311101A>CCA364340974AARS2,POLR1Cc.642T>G (p.Asp214Glu)
n.855+3459A>C
n.677T>G
c.-377T>G (p.=)
c.946-130789A>C (p.=)
6g.44311101A>GCA450391450AARS2,POLR1Cc.642T>C (p.Asp214=)
n.855+3459A>G
n.677T>C
c.-377T>C (p.=)
c.946-130789A>G (p.=)
6g.44311101A>TCA364340975AARS2,POLR1Cc.642T>A (p.Asp214Glu)
n.855+3459A>T
n.677T>A
c.-377T>A (p.=)
c.946-130789A>T (p.=)
6g.44311102T>ACA364340976AARS2,POLR1Cc.641A>T (p.Asp214Val)
n.855+3460T>A
n.676A>T
c.-378A>T (p.=)
c.946-130788T>A (p.=)
6g.44311102T>CCA364340977AARS2,POLR1Cc.641A>G (p.Asp214Gly)
n.855+3460T>C
n.676A>G
c.-378A>G (p.=)
c.946-130788T>C (p.=)
6g.44311102T>GCA364340978AARS2,POLR1Cc.641A>C (p.Asp214Ala)
n.855+3460T>G
n.676A>C
c.-378A>C (p.=)
c.946-130788T>G (p.=)
6g.44311103C>ACA364340979AARS2,POLR1Cc.640G>T (p.Asp214Tyr)
n.855+3461C>A
n.675G>T
c.-379G>T (p.=)
c.946-130787C>A (p.=)
6g.44311103C=CA1624928805AARS2,POLR1Cc.640G= (p.Asp214=)
n.855+3461C=
n.675G=
c.-379G= (p.=)
c.946-130787C= (p.=)
6g.44311103C>GCA364340981AARS2,POLR1Cc.640G>C (p.Asp214His)
n.855+3461C>G
n.675G>C
c.-379G>C (p.=)
c.946-130787C>G (p.=)
6g.44311103C>TCA364340980AARS2,POLR1Cc.640G>A (p.Asp214Asn)
n.855+3461C>T
n.675G>A
c.-379G>A (p.=)
c.946-130787C>T (p.=)
6g.44311104C>ACA450391453AARS2,POLR1Cc.639G>T (p.Gly213=)
n.855+3462C>A
n.674G>T
c.-380G>T (p.=)
c.946-130786C>A (p.=)
6g.44311104C=CA1624928808AARS2,POLR1Cc.639G= (p.Gly213=)
n.855+3462C=
n.674G=
c.-380G= (p.=)
c.946-130786C= (p.=)
6g.44311104C>GCA450391454AARS2,POLR1Cc.639G>C (p.Gly213=)
n.855+3462C>G
n.674G>C
c.-380G>C (p.=)
c.946-130786C>G (p.=)
6g.44311104C>TCA3834584AARS2,POLR1Cc.639G>A (p.Gly213=)
n.855+3462C>T
n.674G>A
c.-380G>A (p.=)
c.946-130786C>T (p.=)
ClinVar dbSNP ExAC gnomAD
6g.44311105C>ACA364340982AARS2,POLR1Cc.638G>T (p.Gly213Val)
n.855+3463C>A
n.673G>T
c.-381G>T (p.=)
c.946-130785C>A (p.=)
6g.44311105C=CA1624928812AARS2,POLR1Cc.638G= (p.Gly213=)
n.855+3463C=
n.673G=
c.-381G= (p.=)
c.946-130785C= (p.=)
6g.44311105C>GCA364340983AARS2,POLR1Cc.638G>C (p.Gly213Ala)
n.855+3463C>G
n.673G>C
c.-381G>C (p.=)
c.946-130785C>G (p.=)
6g.44311105C>TCA3834585AARS2,POLR1Cc.638G>A (p.Gly213Glu)
n.855+3463C>T
n.673G>A
c.-381G>A (p.=)
c.946-130785C>T (p.=)
dbSNP ExAC gnomAD
6g.44311106C>ACA364340984AARS2,POLR1Cc.637G>T (p.Gly213Trp)
n.855+3464C>A
n.672G>T
c.-382G>T (p.=)
c.946-130784C>A (p.=)
6g.44311106C>GCA364340986AARS2,POLR1Cc.637G>C (p.Gly213Arg)
n.855+3464C>G
n.672G>C
c.-382G>C (p.=)
c.946-130784C>G (p.=)
6g.44311106C>TCA364340985AARS2,POLR1Cc.637G>A (p.Gly213Arg)
n.855+3464C>T
n.672G>A
c.-382G>A (p.=)
c.946-130784C>T (p.=)
6g.44311107C>ACA364340987AARS2,POLR1Cc.636G>T (p.Met212Ile)
n.855+3465C>A
n.671G>T
c.-383G>T (p.=)
c.946-130783C>A (p.=)
6g.44311107C=CA1624928818AARS2,POLR1Cc.636G= (p.Met212=)
n.855+3465C=
n.671G=
c.-383G= (p.=)
c.946-130783C= (p.=)
6g.44311107C>GCA364340988AARS2,POLR1Cc.636G>C (p.Met212Ile)
n.855+3465C>G
n.671G>C
c.-383G>C (p.=)
c.946-130783C>G (p.=)
6g.44311107C>TCA364340989AARS2,POLR1Cc.636G>A (p.Met212Ile)
n.855+3465C>T
n.671G>A
c.-383G>A (p.=)
c.946-130783C>T (p.=)
gnomAD
6g.44311108A>CCA364340990AARS2,POLR1Cc.635T>G (p.Met212Arg)
n.855+3466A>C
n.670T>G
c.-384T>G (p.=)
c.946-130782A>C (p.=)
6g.44311108A>GCA364340991AARS2,POLR1Cc.635T>C (p.Met212Thr)
n.855+3466A>G
n.670T>C
c.-384T>C (p.=)
c.946-130782A>G (p.=)
6g.44311108A>TCA364340992AARS2,POLR1Cc.635T>A (p.Met212Lys)
n.855+3466A>T
n.670T>A
c.-384T>A (p.=)
c.946-130782A>T (p.=)
6g.44311109T>ACA364340993AARS2,POLR1Cc.634A>T (p.Met212Leu)
n.855+3467T>A
n.669A>T
c.-385A>T (p.=)
c.946-130781T>A (p.=)
gnomAD
6g.44311109T>CCA364340994AARS2,POLR1Cc.634A>G (p.Met212Val)
n.855+3467T>C
n.669A>G
c.-385A>G (p.=)
c.946-130781T>C (p.=)
6g.44311109T>GCA364340995AARS2,POLR1Cc.634A>C (p.Met212Leu)
n.855+3467T>G
n.669A>C
c.-385A>C (p.=)
c.946-130781T>G (p.=)
6g.44311109T=CA1624928822AARS2,POLR1Cc.634A= (p.Met212=)
n.855+3467T=
n.669A=
c.-385A= (p.=)
c.946-130781T= (p.=)
6g.44311110C>ACA364340996AARS2,POLR1Cc.633G>T (p.Glu211Asp)
n.855+3468C>A
n.668G>T
c.-386G>T (p.=)
c.946-130780C>A (p.=)
6g.44311110C=CA1624928827AARS2,POLR1Cc.633G= (p.Glu211=)
n.855+3468C=
n.668G=
c.-386G= (p.=)
c.946-130780C= (p.=)
6g.44311110C>GCA364340997AARS2,POLR1Cc.633G>C (p.Glu211Asp)
n.855+3468C>G
n.668G>C
c.-386G>C (p.=)
c.946-130780C>G (p.=)
6g.44311110C>TCA138394147AARS2,POLR1Cc.633G>A (p.Glu211=)
n.855+3468C>T
n.668G>A
c.-386G>A (p.=)
c.946-130780C>T (p.=)
dbSNP
6g.44311111T>ACA364341000AARS2,POLR1Cc.632A>T (p.Glu211Val)
n.855+3469T>A
n.667A>T
c.-387A>T (p.=)
c.946-130779T>A (p.=)
6g.44311111T>CCA364340999AARS2,POLR1Cc.632A>G (p.Glu211Gly)
n.855+3469T>C
n.667A>G
c.-387A>G (p.=)
c.946-130779T>C (p.=)

Number of alleles fetched