Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135943412C>ACA348653707DARS1c.389G>T (p.Cys130Phe)
c.484G>T
c.290G>T (p.Cys97Phe)
n.386G>T
c.89G>T (p.Cys30Phe)
2g.135943412C=CA1290890811DARS1c.389G= (p.Cys130=)
c.484G=
c.290G= (p.Cys97=)
n.386G=
c.89G= (p.Cys30=)
2g.135943412C>GCA16609503DARS1c.389G>C (p.Cys130Ser)
c.484G>C
c.290G>C (p.Cys97Ser)
n.386G>C
c.89G>C (p.Cys30Ser)
 ClinVar dbSNP gnomAD v4
2g.135943412C>TCA348653708DARS1c.389G>A (p.Cys130Tyr)
c.484G>A
c.290G>A (p.Cys97Tyr)
n.386G>A
c.89G>A (p.Cys30Tyr)
2g.135943413A>CCA348653709DARS1c.388T>G (p.Cys130Gly)
c.483T>G
c.289T>G (p.Cys97Gly)
n.385T>G
c.88T>G (p.Cys30Gly)
2g.135943413A>GCA348653710DARS1c.388T>C (p.Cys130Arg)
c.483T>C
c.289T>C (p.Cys97Arg)
n.385T>C
c.88T>C (p.Cys30Arg)
 gnomAD v4
2g.135943413A>TCA348653712DARS1c.388T>A (p.Cys130Ser)
c.483T>A
c.289T>A (p.Cys97Ser)
n.385T>A
c.88T>A (p.Cys30Ser)
 gnomAD v4
2g.135943414G>ACA429179186DARS1c.387C>T (p.Ser129=)
c.482C>T
c.288C>T (p.Ser96=)
n.384C>T
c.87C>T (p.Ser29=)
 gnomAD v4
2g.135943414G>CCA348653714DARS1c.387C>G (p.Ser129Arg)
c.482C>G
c.288C>G (p.Ser96Arg)
n.384C>G
c.87C>G (p.Ser29Arg)
2g.135943414G>TCA348653717DARS1c.387C>A (p.Ser129Arg)
c.482C>A
c.288C>A (p.Ser96Arg)
n.384C>A
c.87C>A (p.Ser29Arg)
2g.135943415C>ACA348653723DARS1c.386G>T (p.Ser129Ile)
c.481G>T
c.287G>T (p.Ser96Ile)
n.383G>T
c.86G>T (p.Ser29Ile)
2g.135943415C>GCA348653721DARS1c.386G>C (p.Ser129Thr)
c.481G>C
c.287G>C (p.Ser96Thr)
n.383G>C
c.86G>C (p.Ser29Thr)
2g.135943415C>TCA348653719DARS1c.386G>A (p.Ser129Asn)
c.481G>A
c.287G>A (p.Ser96Asn)
n.383G>A
c.86G>A (p.Ser29Asn)
 gnomAD v4
2g.135943416T>ACA348653724DARS1c.385A>T (p.Ser129Cys)
c.480A>T
c.286A>T (p.Ser96Cys)
n.382A>T
c.85A>T (p.Ser29Cys)
2g.135943416T>CCA348653725DARS1c.385A>G (p.Ser129Gly)
c.480A>G
c.286A>G (p.Ser96Gly)
n.382A>G
c.85A>G (p.Ser29Gly)
 dbSNP gnomAD v4
2g.135943416T>GCA348653727DARS1c.385A>C (p.Ser129Arg)
c.480A>C
c.286A>C (p.Ser96Arg)
n.382A>C
c.85A>C (p.Ser29Arg)
2g.135943416T=CA1290890812DARS1c.385A= (p.Ser129=)
c.480A=
c.286A= (p.Ser96=)
n.382A=
c.85A= (p.Ser29=)
2g.135943417T>ACA429179187DARS1c.384A>T (p.Gly128=)
c.479A>T
c.285A>T (p.Gly95=)
n.381A>T
c.84A>T (p.Gly28=)
2g.135943417T>CCA429179188DARS1c.384A>G (p.Gly128=)
c.479A>G
c.285A>G (p.Gly95=)
n.381A>G
c.84A>G (p.Gly28=)
2g.135943417T>GCA429179189DARS1c.384A>C (p.Gly128=)
c.479A>C
c.285A>C (p.Gly95=)
n.381A>C
c.84A>C (p.Gly28=)
2g.135943418C>ACA348653729DARS1c.383G>T (p.Gly128Val)
c.478G>T
c.284G>T (p.Gly95Val)
n.380G>T
c.83G>T (p.Gly28Val)
2g.135943418C>GCA348653732DARS1c.383G>C (p.Gly128Ala)
c.478G>C
c.284G>C (p.Gly95Ala)
n.380G>C
c.83G>C (p.Gly28Ala)
2g.135943418C>TCA348653734DARS1c.383G>A (p.Gly128Glu)
c.478G>A
c.284G>A (p.Gly95Glu)
n.380G>A
c.83G>A (p.Gly28Glu)
2g.135943419C>ACA348653736DARS1c.382G>T (p.Gly128Ter)
c.477G>T
c.283G>T (p.Gly95Ter)
n.379G>T
c.82G>T (p.Gly28Ter)
2g.135943419C>GCA348653738DARS1c.382G>C (p.Gly128Arg)
c.477G>C
c.283G>C (p.Gly95Arg)
n.379G>C
c.82G>C (p.Gly28Arg)
2g.135943419C>TCA348653739DARS1c.382G>A (p.Gly128Arg)
c.477G>A
c.283G>A (p.Gly95Arg)
n.379G>A
c.82G>A (p.Gly28Arg)
2g.135943420A=CA1290890813DARS1c.381T= (p.Ile127=)
c.476T=
c.282T= (p.Ile94=)
n.378T=
c.81T= (p.Ile27=)
2g.135943420A>CCA348653741DARS1c.381T>G (p.Ile127Met)
c.476T>G
c.282T>G (p.Ile94Met)
n.378T>G
c.81T>G (p.Ile27Met)
2g.135943420A>GCA429179190DARS1c.381T>C (p.Ile127=)
c.476T>C
c.282T>C (p.Ile94=)
n.378T>C
c.81T>C (p.Ile27=)
 dbSNP
2g.135943420A>TCA429179191DARS1c.381T>A (p.Ile127=)
c.476T>A
c.282T>A (p.Ile94=)
n.378T>A
c.81T>A (p.Ile27=)
 dbSNP gnomAD v3 gnomAD v4
2g.135943421A=CA1290890814DARS1c.380T= (p.Ile127=)
c.475T=
c.281T= (p.Ile94=)
n.377T=
c.80T= (p.Ile27=)
2g.135943421A>CCA348653743DARS1c.380T>G (p.Ile127Ser)
c.475T>G
c.281T>G (p.Ile94Ser)
n.377T>G
c.80T>G (p.Ile27Ser)
2g.135943421A>GCA56846216DARS1c.380T>C (p.Ile127Thr)
c.475T>C
c.281T>C (p.Ile94Thr)
n.377T>C
c.80T>C (p.Ile27Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.135943421A>TCA348653746DARS1c.380T>A (p.Ile127Asn)
c.475T>A
c.281T>A (p.Ile94Asn)
n.377T>A
c.80T>A (p.Ile27Asn)
 dbSNP
2g.135943422T>ACA348653750DARS1c.379A>T (p.Ile127Phe)
c.474A>T
c.280A>T (p.Ile94Phe)
n.376A>T
c.79A>T (p.Ile27Phe)
2g.135943422T>CCA348653752DARS1c.379A>G (p.Ile127Val)
c.474A>G
c.280A>G (p.Ile94Val)
n.376A>G
c.79A>G (p.Ile27Val)
 dbSNP gnomAD v3 gnomAD v4
2g.135943422T>GCA348653748DARS1c.379A>C (p.Ile127Leu)
c.474A>C
c.280A>C (p.Ile94Leu)
n.376A>C
c.79A>C (p.Ile27Leu)
2g.135943422T=CA1290890815DARS1c.379A= (p.Ile127=)
c.474A=
c.280A= (p.Ile94=)
n.376A=
c.79A= (p.Ile27=)
2g.135943423T>ACA348653756DARS1c.378A>T (p.Lys126Asn)
c.473A>T
c.279A>T (p.Lys93Asn)
n.375A>T
c.78A>T (p.Lys26Asn)
2g.135943423T>CCA429179192DARS1c.378A>G (p.Lys126=)
c.473A>G
c.279A>G (p.Lys93=)
n.375A>G
c.78A>G (p.Lys26=)
2g.135943423T>GCA348653754DARS1c.378A>C (p.Lys126Asn)
c.473A>C
c.279A>C (p.Lys93Asn)
n.375A>C
c.78A>C (p.Lys26Asn)
2g.135943424T>ACA348653758DARS1c.377A>T (p.Lys126Ile)
c.472A>T
c.278A>T (p.Lys93Ile)
n.374A>T
c.77A>T (p.Lys26Ile)
2g.135943424T>CCA348653760DARS1c.377A>G (p.Lys126Arg)
c.472A>G
c.278A>G (p.Lys93Arg)
n.374A>G
c.77A>G (p.Lys26Arg)
2g.135943424T>GCA348653762DARS1c.377A>C (p.Lys126Thr)
c.472A>C
c.278A>C (p.Lys93Thr)
n.374A>C
c.77A>C (p.Lys26Thr)
2g.135943425T>ACA348653764DARS1c.376A>T (p.Lys126Ter)
c.471A>T
c.277A>T (p.Lys93Ter)
n.373A>T
c.76A>T (p.Lys26Ter)
2g.135943425T>CCA348653766DARS1c.376A>G (p.Lys126Glu)
c.471A>G
c.277A>G (p.Lys93Glu)
n.373A>G
c.76A>G (p.Lys26Glu)
2g.135943425T>GCA348653767DARS1c.376A>C (p.Lys126Gln)
c.471A>C
c.277A>C (p.Lys93Gln)
n.373A>C
c.76A>C (p.Lys26Gln)
2g.135943426C>ACA348653770DARS1c.375G>T (p.Gln125His)
c.470G>T
c.276G>T (p.Gln92His)
n.372G>T
c.75G>T (p.Gln25His)
2g.135943426C=CA1290890816DARS1c.375G= (p.Gln125=)
c.470G=
c.276G= (p.Gln92=)
n.372G=
c.75G= (p.Gln25=)
2g.135943426C>GCA56846218DARS1c.375G>C (p.Gln125His)
c.470G>C
c.276G>C (p.Gln92His)
n.372G>C
c.75G>C (p.Gln25His)
 dbSNP COSMIC

Number of alleles fetched