Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135943315C>ACA2661284256DARS1c.423+63G>T (n.423+63G>T)
c.581G>T
c.324+63G>T (n.324+63G>T)
c.123+63G>T (n.123+63G>T)
 gnomAD v4
2g.135943316A=CA1290890757DARS1c.423+62T= (n.423+62T=)
c.580T=
c.324+62T= (n.324+62T=)
c.123+62T= (n.123+62T=)
2g.135943316A>GCA1290890758DARS1c.423+62T>C (n.423+62T>C)
c.580T>C
c.324+62T>C (n.324+62T>C)
c.123+62T>C (n.123+62T>C)
 dbSNP gnomAD v4
2g.135943317T>CCA2661284257DARS1c.423+61A>G (n.423+61A>G)
c.579A>G
c.324+61A>G (n.324+61A>G)
c.123+61A>G (n.123+61A>G)
 gnomAD v4
2g.135943317T>GCA1889827DARS1c.423+61A>C (n.423+61A>C)
c.579A>C
c.324+61A>C (n.324+61A>C)
c.123+61A>C (n.123+61A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135943317T=CA1290890759DARS1c.423+61A= (n.423+61A=)
c.579A=
c.324+61A= (n.324+61A=)
c.123+61A= (n.123+61A=)
2g.135943318G>TCA2661284258DARS1c.423+60C>A (n.423+60C>A)
c.578C>A
c.324+60C>A (n.324+60C>A)
c.123+60C>A (n.123+60C>A)
 gnomAD v4
2g.135943323C=CA1290890760DARS1c.423+55G= (n.423+55G=)
c.573G=
c.324+55G= (n.324+55G=)
c.123+55G= (n.123+55G=)
2g.135943323C>TCA1290890761DARS1c.423+55G>A (n.423+55G>A)
c.573G>A
c.324+55G>A (n.324+55G>A)
c.123+55G>A (n.123+55G>A)
 dbSNP
2g.135943325A>CCA2661284259DARS1c.423+53T>G (n.423+53T>G)
c.571T>G
c.324+53T>G (n.324+53T>G)
c.123+53T>G (n.123+53T>G)
 gnomAD v4
2g.135943326T=CA1290890762DARS1c.423+52A= (n.423+52A=)
c.570A=
c.324+52A= (n.324+52A=)
c.123+52A= (n.123+52A=)
2g.135943327T>CCA1889829DARS1c.423+51A>G (n.423+51A>G)
c.569A>G
c.324+51A>G (n.324+51A>G)
c.123+51A>G (n.123+51A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943327T=CA1290890763DARS1c.423+51A= (n.423+51A=)
c.569A=
c.324+51A= (n.324+51A=)
c.123+51A= (n.123+51A=)
2g.135943327_135943328insTCTCA1889828DARS1c.423+51_423+52insGAA (n.423+51_423+52insGAA)
c.569_570insGAA
c.324+51_324+52insGAA (n.324+51_324+52insGAA)
c.123+51_123+52insGAA (n.123+51_123+52insGAA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943327_135943332delinsTAGAACCA1290890764DARS1c.423+46_423+51delinsGTTCTA (n.423+46_423+51delinsGTTCTA)
c.564_569delinsGTTCTA
c.324+46_324+51delinsGTTCTA (n.324+46_324+51delinsGTTCTA)
c.123+46_123+51delinsGTTCTA (n.123+46_123+51delinsGTTCTA)
2g.135943328A=CA1290890765DARS1c.423+50T= (n.423+50T=)
c.568T=
c.324+50T= (n.324+50T=)
c.123+50T= (n.123+50T=)
2g.135943328A>GCA2661284260DARS1c.423+50T>C (n.423+50T>C)
c.568T>C
c.324+50T>C (n.324+50T>C)
c.123+50T>C (n.123+50T>C)
 gnomAD v4
2g.135943328_135943332delCA757477772DARS1c.423+46_423+50del (n.423+46_423+50del)
c.564_568del
c.324+46_324+50del (n.324+46_324+50del)
c.123+46_123+50del (n.123+46_123+50del)
 dbSNP
2g.135943328_135943329insTATGCCA1889830DARS1c.423+49_423+50insGCATA (n.423+49_423+50insGCATA)
c.567_568insGCATA
c.324+49_324+50insGCATA (n.324+49_324+50insGCATA)
c.123+49_123+50insGCATA (n.123+49_123+50insGCATA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943329G>TCA2661284261DARS1c.423+49C>A (n.423+49C>A)
c.567C>A
c.324+49C>A (n.324+49C>A)
c.123+49C>A (n.123+49C>A)
 gnomAD v4
2g.135943329_135943336delinsGAACCCAACA1290890766DARS1c.423+42_423+49delinsTTGGGTTC (n.423+42_423+49delinsTTGGGTTC)
c.560_567delinsTTGGGTTC
c.324+42_324+49delinsTTGGGTTC (n.324+42_324+49delinsTTGGGTTC)
c.123+42_123+49delinsTTGGGTTC (n.123+42_123+49delinsTTGGGTTC)
2g.135943331_135943337delCA1889831DARS1c.423+42_423+48del (n.423+42_423+48del)
c.560_566del
c.324+42_324+48del (n.324+42_324+48del)
c.123+42_123+48del (n.123+42_123+48del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943332C>ACA2577108569DARS1c.423+46G>T (n.423+46G>T)
c.564G>T
c.324+46G>T (n.324+46G>T)
c.123+46G>T (n.123+46G>T)
 gnomAD v4
2g.135943332C=CA1290890767DARS1c.423+46G= (n.423+46G=)
c.564G=
c.324+46G= (n.324+46G=)
c.123+46G= (n.123+46G=)
2g.135943332C>GCA1290890768DARS1c.423+46G>C (n.423+46G>C)
c.564G>C
c.324+46G>C (n.324+46G>C)
c.123+46G>C (n.123+46G>C)
 dbSNP gnomAD v4
2g.135943332C>TCA56846201DARS1c.423+46G>A (n.423+46G>A)
c.564G>A
c.324+46G>A (n.324+46G>A)
c.123+46G>A (n.123+46G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135943333C>ACA2661284262DARS1c.423+45G>T (n.423+45G>T)
c.563G>T
c.324+45G>T (n.324+45G>T)
c.123+45G>T (n.123+45G>T)
 gnomAD v4
2g.135943333C=CA1290890770DARS1c.423+45G= (n.423+45G=)
c.563G=
c.324+45G= (n.324+45G=)
c.123+45G= (n.123+45G=)
2g.135943333C>GCA2577108573DARS1c.423+45G>C (n.423+45G>C)
c.563G>C
c.324+45G>C (n.324+45G>C)
c.123+45G>C (n.123+45G>C)
 gnomAD v4
2g.135943333C>TCA757477774DARS1c.423+45G>A (n.423+45G>A)
c.563G>A
c.324+45G>A (n.324+45G>A)
c.123+45G>A (n.123+45G>A)
 dbSNP
2g.135943333_135943335delinsCCACA1290890769DARS1c.423+43_423+45delinsTGG (n.423+43_423+45delinsTGG)
c.561_563delinsTGG
c.324+43_324+45delinsTGG (n.324+43_324+45delinsTGG)
c.123+43_123+45delinsTGG (n.123+43_123+45delinsTGG)
2g.135943334C>ACA2661284263DARS1c.423+44G>T (n.423+44G>T)
c.562G>T
c.324+44G>T (n.324+44G>T)
c.123+44G>T (n.123+44G>T)
 gnomAD v4
2g.135943334_135943335delCA429179165DARS1c.423+43_423+44del (n.423+43_423+44del)
c.561_562del
c.324+43_324+44del (n.324+43_324+44del)
c.123+43_123+44del (n.123+43_123+44del)
 dbSNP
2g.135943335A=CA1290890771DARS1c.423+43T= (n.423+43T=)
c.561T=
c.324+43T= (n.324+43T=)
c.123+43T= (n.123+43T=)
2g.135943335A>CCA2661284264DARS1c.423+43T>G (n.423+43T>G)
c.561T>G
c.324+43T>G (n.324+43T>G)
c.123+43T>G (n.123+43T>G)
 gnomAD v4
2g.135943335A>TCA757477775DARS1c.423+43T>A (n.423+43T>A)
c.561T>A
c.324+43T>A (n.324+43T>A)
c.123+43T>A (n.123+43T>A)
 dbSNP
2g.135943336_135943337delCA348653552DARS1c.423+42_423+43del (n.423+42_423+43del)
c.560_561del
c.324+42_324+43del (n.324+42_324+43del)
c.123+42_123+43del (n.123+42_123+43del)
2g.135943336A=CA1290890772DARS1c.423+42T= (n.423+42T=)
c.560T=
c.324+42T= (n.324+42T=)
c.123+42T= (n.123+42T=)
2g.135943336_135943337insTATGCGCA1290890773DARS1c.423+41_423+42insCGCATA (n.423+41_423+42insCGCATA)
c.559_560insCGCATA
c.324+41_324+42insCGCATA (n.324+41_324+42insCGCATA)
c.123+41_123+42insCGCATA (n.123+41_123+42insCGCATA)
 dbSNP
2g.135943337A>CCA2661284265DARS1c.423+41T>G (n.423+41T>G)
c.559T>G
c.324+41T>G (n.324+41T>G)
c.123+41T>G (n.123+41T>G)
 gnomAD v4
2g.135943338T>CCA1889832DARS1c.423+40A>G (n.423+40A>G)
c.558A>G
c.324+40A>G (n.324+40A>G)
c.123+40A>G (n.123+40A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943338T=CA1290890774DARS1c.423+40A= (n.423+40A=)
c.558A=
c.324+40A= (n.324+40A=)
c.123+40A= (n.123+40A=)
2g.135943339C=CA1290890776DARS1c.423+39G= (n.423+39G=)
c.557G=
c.324+39G= (n.324+39G=)
c.123+39G= (n.123+39G=)
2g.135943339C>GCA1290890775DARS1c.423+39G>C (n.423+39G>C)
c.557G>C
c.324+39G>C (n.324+39G>C)
c.123+39G>C (n.123+39G>C)
 dbSNP
2g.135943340T>CCA2661284266DARS1c.423+38A>G (n.423+38A>G)
c.556A>G
c.324+38A>G (n.324+38A>G)
c.123+38A>G (n.123+38A>G)
 gnomAD v4
2g.135943341A=CA1290890777DARS1c.423+37T= (n.423+37T=)
c.555T=
c.324+37T= (n.324+37T=)
c.123+37T= (n.123+37T=)
2g.135943341A>GCA56846203DARS1c.423+37T>C (n.423+37T>C)
c.555T>C
c.324+37T>C (n.324+37T>C)
c.123+37T>C (n.123+37T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.135943343T>CCA2661284267DARS1c.423+35A>G (n.423+35A>G)
c.553A>G
c.324+35A>G (n.324+35A>G)
c.123+35A>G (n.123+35A>G)
 gnomAD v4
2g.135943345C>TCA2752324776DARS1c.423+33G>A (n.423+33G>A)
c.551G>A
c.324+33G>A (n.324+33G>A)
c.123+33G>A (n.123+33G>A)
2g.135943347A>CCA2661284268DARS1c.423+31T>G (n.423+31T>G)
c.549T>G
c.324+31T>G (n.324+31T>G)
c.123+31T>G (n.123+31T>G)
 gnomAD v4
2g.135943347_135943348delinsATCA1290890778DARS1c.423+30_423+31delinsAT (n.423+30_423+31delinsAT)
c.548_549delinsAT
c.324+30_324+31delinsAT (n.324+30_324+31delinsAT)
c.123+30_123+31delinsAT (n.123+30_123+31delinsAT)
2g.135943348delCA1889833DARS1c.423+30del (n.423+30del)
c.548del
c.324+30del (n.324+30del)
c.123+30del (n.123+30del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943348T>CCA1889835DARS1c.423+30A>G (n.423+30A>G)
c.548A>G
c.324+30A>G (n.324+30A>G)
c.123+30A>G (n.123+30A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943348T>GCA1889834DARS1c.423+30A>C (n.423+30A>C)
c.548A>C
c.324+30A>C (n.324+30A>C)
c.123+30A>C (n.123+30A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135943348T=CA1290890779DARS1c.423+30A= (n.423+30A=)
c.548A=
c.324+30A= (n.324+30A=)
c.123+30A= (n.123+30A=)
2g.135943348_135943349insTTCTCA2577108584DARS1c.423+30_423+31insGAAA (n.423+30_423+31insGAAA)
c.548_549insGAAA
c.324+30_324+31insGAAA (n.324+30_324+31insGAAA)
c.123+30_123+31insGAAA (n.123+30_123+31insGAAA)
2g.135943349delCA348653553DARS1c.423+29del (n.423+29del)
c.547del
c.324+29del (n.324+29del)
c.123+29del (n.123+29del)
2g.135943349A=CA1290890780DARS1c.423+29T= (n.423+29T=)
c.547T=
c.324+29T= (n.324+29T=)
c.123+29T= (n.123+29T=)
2g.135943349A>GCA1889836DARS1c.423+29T>C (n.423+29T>C)
c.547T>C
c.324+29T>C (n.324+29T>C)
c.123+29T>C (n.123+29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943350T>CCA1889837DARS1c.423+28A>G (n.423+28A>G)
c.546A>G
c.324+28A>G (n.324+28A>G)
c.123+28A>G (n.123+28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943350T=CA1290890781DARS1c.423+28A= (n.423+28A=)
c.546A=
c.324+28A= (n.324+28A=)
c.123+28A= (n.123+28A=)
2g.135943351G>ACA2661284269DARS1c.423+27C>T (n.423+27C>T)
c.545C>T
c.324+27C>T (n.324+27C>T)
c.123+27C>T (n.123+27C>T)
 gnomAD v4
2g.135943351G>TCA2661284270DARS1c.423+27C>A (n.423+27C>A)
c.545C>A
c.324+27C>A (n.324+27C>A)
c.123+27C>A (n.123+27C>A)
 gnomAD v4
2g.135943351_135943353delCA2577108593DARS1c.423+25_423+27del (n.423+25_423+27del)
c.543_545del
c.324+25_324+27del (n.324+25_324+27del)
c.123+25_123+27del (n.123+25_123+27del)
2g.135943352C>ACA2661284271DARS1c.423+26G>T (n.423+26G>T)
c.544G>T
c.324+26G>T (n.324+26G>T)
c.123+26G>T (n.123+26G>T)
 gnomAD v4
2g.135943352C=CA1290890782DARS1c.423+26G= (n.423+26G=)
c.544G=
c.324+26G= (n.324+26G=)
c.123+26G= (n.123+26G=)
2g.135943352C>TCA536535165DARS1c.423+26G>A (n.423+26G>A)
c.544G>A
c.324+26G>A (n.324+26G>A)
c.123+26G>A (n.123+26G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135943353G>ACA1889838DARS1c.423+25C>T (n.423+25C>T)
c.543C>T
c.324+25C>T (n.324+25C>T)
c.123+25C>T (n.123+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943353G=CA1290890783DARS1c.423+25C= (n.423+25C=)
c.543C=
c.324+25C= (n.324+25C=)
c.123+25C= (n.123+25C=)
2g.135943353G>TCA536535168DARS1c.423+25C>A (n.423+25C>A)
c.543C>A
c.324+25C>A (n.324+25C>A)
c.123+25C>A (n.123+25C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.135943354A=CA1290890784DARS1c.423+24T= (n.423+24T=)
c.542T=
c.324+24T= (n.324+24T=)
c.123+24T= (n.123+24T=)
2g.135943354A>GCA536535169DARS1c.423+24T>C (n.423+24T>C)
c.542T>C
c.324+24T>C (n.324+24T>C)
c.123+24T>C (n.123+24T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.135943355T>GCA2577108597DARS1c.423+23A>C (n.423+23A>C)
c.541A>C
c.324+23A>C (n.324+23A>C)
c.123+23A>C (n.123+23A>C)
2g.135943358delCA2661284272DARS1c.423+23del (n.423+23del)
c.541del
c.324+23del (n.324+23del)
c.123+23del (n.123+23del)
 gnomAD v4
2g.135943356T>CCA2604947448DARS1c.423+22A>G (n.423+22A>G)
c.540A>G
c.324+22A>G (n.324+22A>G)
c.123+22A>G (n.123+22A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.135943357T>ACA2661284273DARS1c.423+21A>T (n.423+21A>T)
c.539A>T
c.324+21A>T (n.324+21A>T)
c.123+21A>T (n.123+21A>T)
 gnomAD v4
2g.135943357T>CCA1889839DARS1c.423+21A>G (n.423+21A>G)
c.539A>G
c.324+21A>G (n.324+21A>G)
c.123+21A>G (n.123+21A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943357T=CA1290890785DARS1c.423+21A= (n.423+21A=)
c.539A=
c.324+21A= (n.324+21A=)
c.123+21A= (n.123+21A=)
2g.135943359A>GCA2577108604DARS1c.423+19T>C (n.423+19T>C)
c.537T>C
c.324+19T>C (n.324+19T>C)
c.123+19T>C (n.123+19T>C)
 gnomAD v4
2g.135943360T>ACA536535172DARS1c.423+18A>T (n.423+18A>T)
c.536A>T
c.324+18A>T (n.324+18A>T)
c.123+18A>T (n.123+18A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135943360T=CA1290890786DARS1c.423+18A= (n.423+18A=)
c.536A=
c.324+18A= (n.324+18A=)
c.123+18A= (n.123+18A=)
2g.135943361A=CA1290890787DARS1c.423+17T= (n.423+17T=)
c.535T=
c.324+17T= (n.324+17T=)
c.123+17T= (n.123+17T=)
2g.135943361A>GCA536535174DARS1c.423+17T>C (n.423+17T>C)
c.535T>C
c.324+17T>C (n.324+17T>C)
c.123+17T>C (n.123+17T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.135943362T>ACA2661284274DARS1c.423+16A>T (n.423+16A>T)
c.534A>T
c.324+16A>T (n.324+16A>T)
c.123+16A>T (n.123+16A>T)
 gnomAD v4
2g.135943362_135943363insGCA2549425640DARS1c.423+15_423+16insC (n.423+15_423+16insC)
c.533_534insC
c.324+15_324+16insC (n.324+15_324+16insC)
c.123+15_123+16insC (n.123+15_123+16insC)
2g.135943363T>GCA1290890789DARS1c.423+15A>C (n.423+15A>C)
c.533A>C
c.324+15A>C (n.324+15A>C)
c.123+15A>C (n.123+15A>C)
 ClinVar dbSNP
2g.135943363T=CA1290890788DARS1c.423+15A= (n.423+15A=)
c.533A=
c.324+15A= (n.324+15A=)
c.123+15A= (n.123+15A=)
2g.135943364T>CCA1889840DARS1c.423+14A>G (n.423+14A>G)
c.532A>G
c.324+14A>G (n.324+14A>G)
c.123+14A>G (n.123+14A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135943364T=CA1290890790DARS1c.423+14A= (n.423+14A=)
c.532A=
c.324+14A= (n.324+14A=)
c.123+14A= (n.123+14A=)
2g.135943364_135943365insCTTACTAATTAACA2557798897DARS1c.423+13_423+14insTTAATTAGTAAG (n.423+13_423+14insTTAATTAGTAAG)
c.531_532insTTAATTAGTAAG
c.324+13_324+14insTTAATTAGTAAG (n.324+13_324+14insTTAATTAGTAAG)
c.123+13_123+14insTTAATTAGTAAG (n.123+13_123+14insTTAATTAGTAAG)
2g.135943365T>CCA1889841DARS1c.423+13A>G (n.423+13A>G)
c.531A>G
c.324+13A>G (n.324+13A>G)
c.123+13A>G (n.123+13A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135943365T=CA1290890791DARS1c.423+13A= (n.423+13A=)
c.531A=
c.324+13A= (n.324+13A=)
c.123+13A= (n.123+13A=)
2g.135943366G>ACA647200930DARS1c.423+12C>T (n.423+12C>T)
c.530C>T
c.324+12C>T (n.324+12C>T)
c.123+12C>T (n.123+12C>T)
 COSMIC
2g.135943366G>CCA1290890794DARS1c.423+12C>G (n.423+12C>G)
c.530C>G
c.324+12C>G (n.324+12C>G)
c.123+12C>G (n.123+12C>G)
 dbSNP
2g.135943366G=CA1290890793DARS1c.423+12C= (n.423+12C=)
c.530C=
c.324+12C= (n.324+12C=)
c.123+12C= (n.123+12C=)
2g.135943366_135943367delinsGACA1290890792DARS1c.423+11_423+12delinsTC (n.423+11_423+12delinsTC)
c.529_530delinsTC
c.324+11_324+12delinsTC (n.324+11_324+12delinsTC)
c.123+11_123+12delinsTC (n.123+11_123+12delinsTC)
2g.135943367A>GCA2661284275DARS1c.423+11T>C (n.423+11T>C)
c.529T>C
c.324+11T>C (n.324+11T>C)
c.123+11T>C (n.123+11T>C)
 gnomAD v4
2g.135943372delCA757477790DARS1c.423+11del (n.423+11del)
c.529del
c.324+11del (n.324+11del)
c.123+11del (n.123+11del)
 dbSNP gnomAD v3 gnomAD v4
2g.135943373C>ACA2752324777DARS1c.423+5G>T (n.423+5G>T)
c.523G>T
c.324+5G>T (n.324+5G>T)
c.123+5G>T (n.123+5G>T)
2g.135943373C>GCA2700500864DARS1c.423+5G>C (n.423+5G>C)
c.523G>C
c.324+5G>C (n.324+5G>C)
c.123+5G>C (n.123+5G>C)
 dbSNP
2g.135943374T>ACA16603738DARS1c.423+4A>T (n.423+4A>T)
c.522A>T
c.324+4A>T (n.324+4A>T)
c.123+4A>T (n.123+4A>T)
 ClinVar dbSNP gnomAD v4
2g.135943374T>GCA1889842DARS1c.423+4A>C (n.423+4A>C)
c.522A>C
c.324+4A>C (n.324+4A>C)
c.123+4A>C (n.123+4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943374T=CA1290890795DARS1c.423+4A= (n.423+4A=)
c.522A=
c.324+4A= (n.324+4A=)
c.123+4A= (n.123+4A=)
2g.135943374_135943375delCA2661284276DARS1c.423+3_423+4del (n.423+3_423+4del)
c.521_522del
c.324+3_324+4del (n.324+3_324+4del)
c.123+3_123+4del (n.123+3_123+4del)
 gnomAD v4
2g.135943375T>CCA2661284277DARS1c.423+3A>G (n.423+3A>G)
c.521A>G
c.324+3A>G (n.324+3A>G)
c.123+3A>G (n.123+3A>G)
 gnomAD v4
2g.135943376A=CA1290890796DARS1c.423+2T= (n.423+2T=)
c.520T=
c.324+2T= (n.324+2T=)
c.123+2T= (n.123+2T=)
2g.135943376A>CCA348653554DARS1c.423+2T>G (n.423+2T>G)
c.520T>G
c.324+2T>G (n.324+2T>G)
c.123+2T>G (n.123+2T>G)
2g.135943376A>GCA348653555DARS1c.423+2T>C (n.423+2T>C)
c.520T>C
c.324+2T>C (n.324+2T>C)
c.123+2T>C (n.123+2T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.135943376A>TCA348653556DARS1c.423+2T>A (n.423+2T>A)
c.520T>A
c.324+2T>A (n.324+2T>A)
c.123+2T>A (n.123+2T>A)
2g.135943377C>ACA348653559DARS1c.423+1G>T (n.423+1G>T)
c.519G>T
c.324+1G>T (n.324+1G>T)
c.123+1G>T (n.123+1G>T)
2g.135943377C>GCA348653558DARS1c.423+1G>C (n.423+1G>C)
c.519G>C
c.324+1G>C (n.324+1G>C)
c.123+1G>C (n.123+1G>C)
2g.135943377C>TCA348653557DARS1c.423+1G>A (n.423+1G>A)
c.519G>A
c.324+1G>A (n.324+1G>A)
c.123+1G>A (n.123+1G>A)
2g.135943378C>ACA348653560DARS1c.423G>T (p.Lys141Asn)
c.518G>T
c.324G>T (p.Lys108Asn)
c.123G>T (p.Lys41Asn)
2g.135943378C>GCA348653561DARS1c.423G>C (p.Lys141Asn)
c.518G>C
c.324G>C (p.Lys108Asn)
c.123G>C (p.Lys41Asn)
2g.135943378C>TCA429179166DARS1c.423G>A (p.Lys141=)
c.518G>A
c.324G>A (p.Lys108=)
c.123G>A (p.Lys41=)
 gnomAD v4
2g.135943379T>ACA348653562DARS1c.422A>T (p.Lys141Met)
c.517A>T
c.323A>T (p.Lys108Met)
c.122A>T (p.Lys41Met)
2g.135943379T>CCA348653563DARS1c.422A>G (p.Lys141Arg)
c.517A>G
c.323A>G (p.Lys108Arg)
c.122A>G (p.Lys41Arg)
2g.135943379T>GCA348653564DARS1c.422A>C (p.Lys141Thr)
c.517A>C
c.323A>C (p.Lys108Thr)
c.122A>C (p.Lys41Thr)
2g.135943380T>ACA348653565DARS1c.421A>T (p.Lys141Ter)
c.516A>T
c.322A>T (p.Lys108Ter)
c.121A>T (p.Lys41Ter)
2g.135943380T>CCA348653569DARS1c.421A>G (p.Lys141Glu)
c.516A>G
c.322A>G (p.Lys108Glu)
c.121A>G (p.Lys41Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.135943380T>GCA348653570DARS1c.421A>C (p.Lys141Gln)
c.516A>C
c.322A>C (p.Lys108Gln)
c.121A>C (p.Lys41Gln)
2g.135943380T=CA1290890797DARS1c.421A= (p.Lys141=)
c.516A=
c.322A= (p.Lys108=)
c.121A= (p.Lys41=)
2g.135943381C>ACA348653573DARS1c.420G>T (p.Gln140His)
c.515G>T
c.321G>T (p.Gln107His)
c.120G>T (p.Gln40His)
2g.135943381C>GCA348653574DARS1c.420G>C (p.Gln140His)
c.515G>C
c.321G>C (p.Gln107His)
c.120G>C (p.Gln40His)
2g.135943381C>TCA429179167DARS1c.420G>A (p.Gln140=)
c.515G>A
c.321G>A (p.Gln107=)
c.120G>A (p.Gln40=)
 dbSNP gnomAD v4
2g.135943382T>ACA348653576DARS1c.419A>T (p.Gln140Leu)
c.514A>T
c.320A>T (p.Gln107Leu)
c.119A>T (p.Gln40Leu)
2g.135943382T>CCA348653577DARS1c.419A>G (p.Gln140Arg)
c.514A>G
c.320A>G (p.Gln107Arg)
c.119A>G (p.Gln40Arg)
2g.135943382T>GCA348653578DARS1c.419A>C (p.Gln140Pro)
c.514A>C
c.320A>C (p.Gln107Pro)
c.119A>C (p.Gln40Pro)
2g.135943383G>ACA348653581DARS1c.418C>T (p.Gln140Ter)
c.513C>T
c.319C>T (p.Gln107Ter)
c.118C>T (p.Gln40Ter)
2g.135943383G>CCA348653580DARS1c.418C>G (p.Gln140Glu)
c.513C>G
c.319C>G (p.Gln107Glu)
c.118C>G (p.Gln40Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.135943383G=CA1290890798DARS1c.418C= (p.Gln140=)
c.513C=
c.319C= (p.Gln107=)
c.118C= (p.Gln40=)
2g.135943383G>TCA348653579DARS1c.418C>A (p.Gln140Lys)
c.513C>A
c.319C>A (p.Gln107Lys)
c.118C>A (p.Gln40Lys)
 gnomAD v4
2g.135943384A>CCA429179170DARS1c.417T>G (p.Val139=)
c.512T>G
c.318T>G (p.Val106=)
c.117T>G (p.Val39=)
2g.135943384A>GCA429179168DARS1c.417T>C (p.Val139=)
c.512T>C
c.318T>C (p.Val106=)
c.117T>C (p.Val39=)
2g.135943384A>TCA429179169DARS1c.417T>A (p.Val139=)
c.512T>A
c.318T>A (p.Val106=)
c.117T>A (p.Val39=)
2g.135943385A=CA1290890799DARS1c.416T= (p.Val139=)
c.511T=
c.317T= (p.Val106=)
c.116T= (p.Val39=)
2g.135943385A>CCA348653585DARS1c.416T>G (p.Val139Gly)
c.511T>G
c.317T>G (p.Val106Gly)
c.116T>G (p.Val39Gly)
2g.135943385A>GCA348653582DARS1c.416T>C (p.Val139Ala)
c.511T>C
c.317T>C (p.Val106Ala)
c.116T>C (p.Val39Ala)
 dbSNP gnomAD v2
2g.135943385A>TCA348653584DARS1c.416T>A (p.Val139Asp)
c.511T>A
c.317T>A (p.Val106Asp)
c.116T>A (p.Val39Asp)
2g.135943386C>ACA348653587DARS1c.415G>T (p.Val139Phe)
c.510G>T
c.316G>T (p.Val106Phe)
n.412G>T
c.115G>T (p.Val39Phe)
2g.135943386C>GCA348653589DARS1c.415G>C (p.Val139Leu)
c.510G>C
c.316G>C (p.Val106Leu)
n.412G>C
c.115G>C (p.Val39Leu)
2g.135943386C>TCA348653591DARS1c.415G>A (p.Val139Ile)
c.510G>A
c.316G>A (p.Val106Ile)
n.412G>A
c.115G>A (p.Val39Ile)
 COSMIC
2g.135943387A>CCA348653594DARS1c.414T>G (p.His138Gln)
c.509T>G
c.315T>G (p.His105Gln)
n.411T>G
c.114T>G (p.His38Gln)
2g.135943387A>GCA429179171DARS1c.414T>C (p.His138=)
c.509T>C
c.315T>C (p.His105=)
n.411T>C
c.114T>C (p.His38=)
2g.135943387A>TCA348653595DARS1c.414T>A (p.His138Gln)
c.509T>A
c.315T>A (p.His105Gln)
n.411T>A
c.114T>A (p.His38Gln)
2g.135943388T>ACA348653597DARS1c.413A>T (p.His138Leu)
c.508A>T
c.314A>T (p.His105Leu)
n.410A>T
c.113A>T (p.His38Leu)
2g.135943388T>CCA1889843DARS1c.413A>G (p.His138Arg)
c.508A>G
c.314A>G (p.His105Arg)
n.410A>G
c.113A>G (p.His38Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.135943388T>GCA348653601DARS1c.413A>C (p.His138Pro)
c.508A>C
c.314A>C (p.His105Pro)
n.410A>C
c.113A>C (p.His38Pro)
2g.135943388T=CA1290890800DARS1c.413A= (p.His138=)
c.508A=
c.314A= (p.His105=)
n.410A=
c.113A= (p.His38=)
2g.135943389G>ACA348653603DARS1c.412C>T (p.His138Tyr)
c.507C>T
c.313C>T (p.His105Tyr)
n.409C>T
c.112C>T (p.His38Tyr)
2g.135943389G>CCA56846212DARS1c.412C>G (p.His138Asp)
c.507C>G
c.313C>G (p.His105Asp)
n.409C>G
c.112C>G (p.His38Asp)
 dbSNP
2g.135943389G=CA1290890801DARS1c.412C= (p.His138=)
c.507C=
c.313C= (p.His105=)
n.409C=
c.112C= (p.His38=)
2g.135943389G>TCA348653606DARS1c.412C>A (p.His138Asn)
c.507C>A
c.313C>A (p.His105Asn)
n.409C>A
c.112C>A (p.His38Asn)
2g.135943390T>ACA348653609DARS1c.411A>T (p.Leu137Phe)
c.506A>T
c.312A>T (p.Leu104Phe)
n.408A>T
c.111A>T (p.Leu37Phe)
2g.135943390T>CCA429179172DARS1c.411A>G (p.Leu137=)
c.506A>G
c.312A>G (p.Leu104=)
n.408A>G
c.111A>G (p.Leu37=)
2g.135943390T>GCA348653607DARS1c.411A>C (p.Leu137Phe)
c.506A>C
c.312A>C (p.Leu104Phe)
n.408A>C
c.111A>C (p.Leu37Phe)
 gnomAD v4
2g.135943391A>CCA348653612DARS1c.410T>G (p.Leu137Ter)
c.505T>G
c.311T>G (p.Leu104Ter)
n.407T>G
c.110T>G (p.Leu37Ter)
 gnomAD v4
2g.135943391A>GCA348653614DARS1c.410T>C (p.Leu137Ser)
c.505T>C
c.311T>C (p.Leu104Ser)
n.407T>C
c.110T>C (p.Leu37Ser)
 gnomAD v4
2g.135943391A>TCA348653616DARS1c.410T>A (p.Leu137Ter)
c.505T>A
c.311T>A (p.Leu104Ter)
n.407T>A
c.110T>A (p.Leu37Ter)
2g.135943392A>CCA348653618DARS1c.409T>G (p.Leu137Val)
c.504T>G
c.310T>G (p.Leu104Val)
n.406T>G
c.109T>G (p.Leu37Val)
2g.135943392A>GCA429179173DARS1c.409T>C (p.Leu137=)
c.504T>C
c.310T>C (p.Leu104=)
n.406T>C
c.109T>C (p.Leu37=)
2g.135943392A>TCA348653620DARS1c.409T>A (p.Leu137Ile)
c.504T>A
c.310T>A (p.Leu104Ile)
n.406T>A
c.109T>A (p.Leu37Ile)
 gnomAD v4
2g.135943393C>ACA348653622DARS1c.408G>T (p.Glu136Asp)
c.503G>T
c.309G>T (p.Glu103Asp)
n.405G>T
c.108G>T (p.Glu36Asp)
2g.135943393C=CA1290890802DARS1c.408G= (p.Glu136=)
c.503G=
c.309G= (p.Glu103=)
n.405G=
c.108G= (p.Glu36=)
2g.135943393C>GCA348653624DARS1c.408G>C (p.Glu136Asp)
c.503G>C
c.309G>C (p.Glu103Asp)
n.405G>C
c.108G>C (p.Glu36Asp)
2g.135943393C>TCA429179174DARS1c.408G>A (p.Glu136=)
c.503G>A
c.309G>A (p.Glu103=)
n.405G>A
c.108G>A (p.Glu36=)
 dbSNP gnomAD v3 gnomAD v4
2g.135943393dupCA2661284278DARS1c.408dup (p.Leu137ValfsTer13)
c.503dup
c.309dup (p.Leu104ValfsTer13)
n.405dup
c.108dup (p.Leu37ValfsTer13)
 gnomAD v4
2g.135943394T>ACA348653626DARS1c.407A>T (p.Glu136Val)
c.502A>T
c.308A>T (p.Glu103Val)
n.404A>T
c.107A>T (p.Glu36Val)
2g.135943394T>CCA348653628DARS1c.407A>G (p.Glu136Gly)
c.502A>G
c.308A>G (p.Glu103Gly)
n.404A>G
c.107A>G (p.Glu36Gly)
2g.135943394T>GCA348653630DARS1c.407A>C (p.Glu136Ala)
c.502A>C
c.308A>C (p.Glu103Ala)
n.404A>C
c.107A>C (p.Glu36Ala)
2g.135943395C>ACA1889844DARS1c.406G>T (p.Glu136Ter)
c.501G>T
c.307G>T (p.Glu103Ter)
n.403G>T
c.106G>T (p.Glu36Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135943395C=CA1290890803DARS1c.406G= (p.Glu136=)
c.501G=
c.307G= (p.Glu103=)
n.403G=
c.106G= (p.Glu36=)
2g.135943395C>GCA348653633DARS1c.406G>C (p.Glu136Gln)
c.501G>C
c.307G>C (p.Glu103Gln)
n.403G>C
c.106G>C (p.Glu36Gln)
 COSMIC
2g.135943395C>TCA348653635DARS1c.406G>A (p.Glu136Lys)
c.501G>A
c.307G>A (p.Glu103Lys)
n.403G>A
c.106G>A (p.Glu36Lys)
2g.135943396A>CCA429179175DARS1c.405T>G (p.Val135=)
c.500T>G
c.306T>G (p.Val102=)
n.402T>G
c.105T>G (p.Val35=)
2g.135943396A>GCA429179176DARS1c.405T>C (p.Val135=)
c.500T>C
c.306T>C (p.Val102=)
n.402T>C
c.105T>C (p.Val35=)
2g.135943396A>TCA429179177DARS1c.405T>A (p.Val135=)
c.500T>A
c.306T>A (p.Val102=)
n.402T>A
c.105T>A (p.Val35=)
2g.135943397A>CCA348653639DARS1c.404T>G (p.Val135Gly)
c.499T>G
c.305T>G (p.Val102Gly)
n.401T>G
c.104T>G (p.Val35Gly)
 gnomAD v4
2g.135943397A>GCA348653640DARS1c.404T>C (p.Val135Ala)
c.499T>C
c.305T>C (p.Val102Ala)
n.401T>C
c.104T>C (p.Val35Ala)
2g.135943397A>TCA348653637DARS1c.404T>A (p.Val135Asp)
c.499T>A
c.305T>A (p.Val102Asp)
n.401T>A
c.104T>A (p.Val35Asp)
2g.135943398C>ACA348653643DARS1c.403G>T (p.Val135Phe)
c.498G>T
c.304G>T (p.Val102Phe)
n.400G>T
c.103G>T (p.Val35Phe)
2g.135943398C=CA1290890804DARS1c.403G= (p.Val135=)
c.498G=
c.304G= (p.Val102=)
n.400G=
c.103G= (p.Val35=)
2g.135943398C>GCA348653645DARS1c.403G>C (p.Val135Leu)
c.498G>C
c.304G>C (p.Val102Leu)
n.400G>C
c.103G>C (p.Val35Leu)
2g.135943398C>TCA1889845DARS1c.403G>A (p.Val135Ile)
c.498G>A
c.304G>A (p.Val102Ile)
n.400G>A
c.103G>A (p.Val35Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943399G>ACA429179178DARS1c.402C>T (p.Asp134=)
c.497C>T
c.303C>T (p.Asp101=)
n.399C>T
c.102C>T (p.Asp34=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.135943399G>CCA348653648DARS1c.402C>G (p.Asp134Glu)
c.497C>G
c.303C>G (p.Asp101Glu)
n.399C>G
c.102C>G (p.Asp34Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135943399G=CA1290890805DARS1c.402C= (p.Asp134=)
c.497C=
c.303C= (p.Asp101=)
n.399C=
c.102C= (p.Asp34=)
2g.135943399G>TCA348653650DARS1c.402C>A (p.Asp134Glu)
c.497C>A
c.303C>A (p.Asp101Glu)
n.399C>A
c.102C>A (p.Asp34Glu)
 dbSNP gnomAD v4
2g.135943400T>ACA348653652DARS1c.401A>T (p.Asp134Val)
c.496A>T
c.302A>T (p.Asp101Val)
n.398A>T
c.101A>T (p.Asp34Val)
 dbSNP gnomAD v3 gnomAD v4
2g.135943400T>CCA348653654DARS1c.401A>G (p.Asp134Gly)
c.496A>G
c.302A>G (p.Asp101Gly)
n.398A>G
c.101A>G (p.Asp34Gly)
2g.135943400T>GCA348653655DARS1c.401A>C (p.Asp134Ala)
c.496A>C
c.302A>C (p.Asp101Ala)
n.398A>C
c.101A>C (p.Asp34Ala)
2g.135943400T=CA1290890806DARS1c.401A= (p.Asp134=)
c.496A=
c.302A= (p.Asp101=)
n.398A=
c.101A= (p.Asp34=)
2g.135943401C>ACA348653658DARS1c.400G>T (p.Asp134Tyr)
c.495G>T
c.301G>T (p.Asp101Tyr)
n.397G>T
c.100G>T (p.Asp34Tyr)
2g.135943401C>GCA348653659DARS1c.400G>C (p.Asp134His)
c.495G>C
c.301G>C (p.Asp101His)
n.397G>C
c.100G>C (p.Asp34His)
2g.135943401C>TCA348653661DARS1c.400G>A (p.Asp134Asn)
c.495G>A
c.301G>A (p.Asp101Asn)
n.397G>A
c.100G>A (p.Asp34Asn)
2g.135943402T>ACA348653663DARS1c.399A>T (p.Gln133His)
c.494A>T
c.300A>T (p.Gln100His)
n.396A>T
c.99A>T (p.Gln33His)
2g.135943402T>CCA429179179DARS1c.399A>G (p.Gln133=)
c.494A>G
c.300A>G (p.Gln100=)
n.396A>G
c.99A>G (p.Gln33=)
 gnomAD v4
2g.135943402T>GCA348653665DARS1c.399A>C (p.Gln133His)
c.494A>C
c.300A>C (p.Gln100His)
n.396A>C
c.99A>C (p.Gln33His)
2g.135943403T>ACA348653670DARS1c.398A>T (p.Gln133Leu)
c.493A>T
c.299A>T (p.Gln100Leu)
n.395A>T
c.98A>T (p.Gln33Leu)
2g.135943403T>CCA1889846DARS1c.398A>G (p.Gln133Arg)
c.493A>G
c.299A>G (p.Gln100Arg)
n.395A>G
c.98A>G (p.Gln33Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135943403T>GCA348653668DARS1c.398A>C (p.Gln133Pro)
c.493A>C
c.299A>C (p.Gln100Pro)
n.395A>C
c.98A>C (p.Gln33Pro)
2g.135943403T=CA1290890807DARS1c.398A= (p.Gln133=)
c.493A=
c.299A= (p.Gln100=)
n.395A=
c.98A= (p.Gln33=)
2g.135943404G>ACA348653672DARS1c.397C>T (p.Gln133Ter)
c.492C>T
c.298C>T (p.Gln100Ter)
n.394C>T
c.97C>T (p.Gln33Ter)
 COSMIC
2g.135943404G>CCA348653674DARS1c.397C>G (p.Gln133Glu)
c.492C>G
c.298C>G (p.Gln100Glu)
n.394C>G
c.97C>G (p.Gln33Glu)
2g.135943404G>TCA348653676DARS1c.397C>A (p.Gln133Lys)
c.492C>A
c.298C>A (p.Gln100Lys)
n.394C>A
c.97C>A (p.Gln33Lys)
2g.135943405C>ACA348653678DARS1c.396G>T (p.Gln132His)
c.491G>T
c.297G>T (p.Gln99His)
n.393G>T
c.96G>T (p.Gln32His)
 COSMIC
2g.135943405C=CA1290890809DARS1c.396G= (p.Gln132=)
c.491G=
c.297G= (p.Gln99=)
n.393G=
c.96G= (p.Gln32=)
2g.135943405C>GCA1889847DARS1c.396G>C (p.Gln132His)
c.491G>C
c.297G>C (p.Gln99His)
n.393G>C
c.96G>C (p.Gln32His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135943405C>TCA429179180DARS1c.396G>A (p.Gln132=)
c.491G>A
c.297G>A (p.Gln99=)
n.393G>A
c.96G>A (p.Gln32=)
 gnomAD v4
2g.135943405_135943407delinsCTGCA1290890808DARS1c.394_396delinsCAG (p.Gln132=)
c.489_491delinsCAG
c.295_297delinsCAG (p.Gln99=)
n.391_393delinsCAG
c.94_96delinsCAG (p.Gln32=)
2g.135943406T>ACA348653681DARS1c.395A>T (p.Gln132Leu)
c.490A>T
c.296A>T (p.Gln99Leu)
n.392A>T
c.95A>T (p.Gln32Leu)
2g.135943406T>CCA348653683DARS1c.395A>G (p.Gln132Arg)
c.490A>G
c.296A>G (p.Gln99Arg)
n.392A>G
c.95A>G (p.Gln32Arg)
2g.135943406T>GCA348653685DARS1c.395A>C (p.Gln132Pro)
c.490A>C
c.296A>C (p.Gln99Pro)
n.392A>C
c.95A>C (p.Gln32Pro)
2g.135943409_135943410delCA429179181DARS1c.394_395del (p.Gln132AlafsTer4)
c.489_490del
c.295_296del (p.Gln99AlafsTer4)
n.391_392del
c.94_95del (p.Gln32AlafsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.135943407G>ACA348653687DARS1c.394C>T (p.Gln132Ter)
c.489C>T
c.295C>T (p.Gln99Ter)
n.391C>T
c.94C>T (p.Gln32Ter)
2g.135943407G>CCA348653689DARS1c.394C>G (p.Gln132Glu)
c.489C>G
c.295C>G (p.Gln99Glu)
n.391C>G
c.94C>G (p.Gln32Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.135943407G=CA1290890810DARS1c.394C= (p.Gln132=)
c.489C=
c.295C= (p.Gln99=)
n.391C=
c.94C= (p.Gln32=)
2g.135943407G>TCA348653691DARS1c.394C>A (p.Gln132Lys)
c.489C>A
c.295C>A (p.Gln99Lys)
n.391C>A
c.94C>A (p.Gln32Lys)
2g.135943408T>ACA429179184DARS1c.393A>T (p.Thr131=)
c.488A>T
c.294A>T (p.Thr98=)
n.390A>T
c.93A>T (p.Thr31=)
2g.135943408T>CCA429179183DARS1c.393A>G (p.Thr131=)
c.488A>G
c.294A>G (p.Thr98=)
n.390A>G
c.93A>G (p.Thr31=)
2g.135943408T>GCA429179182DARS1c.393A>C (p.Thr131=)
c.488A>C
c.294A>C (p.Thr98=)
n.390A>C
c.93A>C (p.Thr31=)
2g.135943409G>ACA348653695DARS1c.392C>T (p.Thr131Ile)
c.487C>T
c.293C>T (p.Thr98Ile)
n.389C>T
c.92C>T (p.Thr31Ile)
2g.135943409G>CCA348653696DARS1c.392C>G (p.Thr131Arg)
c.487C>G
c.293C>G (p.Thr98Arg)
n.389C>G
c.92C>G (p.Thr31Arg)
2g.135943409G>TCA348653694DARS1c.392C>A (p.Thr131Lys)
c.487C>A
c.293C>A (p.Thr98Lys)
n.389C>A
c.92C>A (p.Thr31Lys)
2g.135943410T>ACA348653699DARS1c.391A>T (p.Thr131Ser)
c.486A>T
c.292A>T (p.Thr98Ser)
n.388A>T
c.91A>T (p.Thr31Ser)
2g.135943410T>CCA348653701DARS1c.391A>G (p.Thr131Ala)
c.486A>G
c.292A>G (p.Thr98Ala)
n.388A>G
c.91A>G (p.Thr31Ala)
2g.135943410T>GCA348653702DARS1c.391A>C (p.Thr131Pro)
c.486A>C
c.292A>C (p.Thr98Pro)
n.388A>C
c.91A>C (p.Thr31Pro)
2g.135943411A>CCA348653704DARS1c.390T>G (p.Cys130Trp)
c.485T>G
c.291T>G (p.Cys97Trp)
n.387T>G
c.90T>G (p.Cys30Trp)
2g.135943411A>GCA429179185DARS1c.390T>C (p.Cys130=)
c.485T>C
c.291T>C (p.Cys97=)
n.387T>C
c.90T>C (p.Cys30=)
2g.135943411A>TCA348653706DARS1c.390T>A (p.Cys130Ter)
c.485T>A
c.291T>A (p.Cys97Ter)
n.387T>A
c.90T>A (p.Cys30Ter)
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)

Number of alleles fetched