Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.19176580_19176583delinsGCAT | CA2395758226 | SLC25A1 | c.742_745delinsATGC (p.Met248=) c.433_436delinsATGC (p.Met145=) n.884_887delinsATGC c.763_766delinsATGC (p.Met255=) n.793_796delinsATGC n.666_669delinsATGC | |
22 | g.19176582_19176584del | CA2395758230 | SLC25A1 | c.742_744del (p.Met248del) c.433_435del (p.Met145del) n.884_886del c.763_765del (p.Met255del) n.793_795del n.666_668del | dbSNP |
22 | g.19176583T>A | CA410635869 | SLC25A1 | c.742A>T (p.Met248Leu) c.433A>T (p.Met145Leu) n.884A>T c.763A>T (p.Met255Leu) n.793A>T n.666A>T | gnomAD v4 |
22 | g.19176583T>C | CA410635877 | SLC25A1 | c.742A>G (p.Met248Val) c.433A>G (p.Met145Val) n.884A>G c.763A>G (p.Met255Val) n.793A>G n.666A>G | |
22 | g.19176583T>G | CA410635882 | SLC25A1 | c.742A>C (p.Met248Leu) c.433A>C (p.Met145Leu) n.884A>C c.763A>C (p.Met255Leu) n.793A>C n.666A>C | |
22 | g.19176584C>A | CA513188335 | SLC25A1 | c.741G>T (p.Arg247=) c.432G>T (p.Arg144=) n.883G>T c.762G>T (p.Arg254=) n.792G>T n.665G>T | gnomAD v4 |
22 | g.19176584C>G | CA513188336 | SLC25A1 | c.741G>C (p.Arg247=) c.432G>C (p.Arg144=) n.883G>C c.762G>C (p.Arg254=) n.792G>C n.665G>C | |
22 | g.19176584C>T | CA513188337 | SLC25A1 | c.741G>A (p.Arg247=) c.432G>A (p.Arg144=) n.883G>A c.762G>A (p.Arg254=) n.792G>A n.665G>A | |
22 | g.19176585C>A | CA410635887 | SLC25A1 | c.740G>T (p.Arg247Leu) c.431G>T (p.Arg144Leu) n.882G>T c.761G>T (p.Arg254Leu) n.791G>T n.664G>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19176585C= | CA2395758239 | SLC25A1 | c.740G= (p.Arg247=) c.431G= (p.Arg144=) n.882G= c.761G= (p.Arg254=) n.791G= n.664G= | |
22 | g.19176585C>G | CA410635891 | SLC25A1 | c.740G>C (p.Arg247Pro) c.431G>C (p.Arg144Pro) n.882G>C c.761G>C (p.Arg254Pro) n.791G>C n.664G>C | |
22 | g.19176585C>T | CA10097328 | SLC25A1 | c.740G>A (p.Arg247Gln) c.431G>A (p.Arg144Gln) n.882G>A c.761G>A (p.Arg254Gln) n.791G>A n.664G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176586G>A | CA10097329 | SLC25A1 | c.739C>T (p.Arg247Trp) c.430C>T (p.Arg144Trp) n.881C>T c.760C>T (p.Arg254Trp) n.790C>T n.663C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176586G>C | CA410635894 | SLC25A1 | c.739C>G (p.Arg247Gly) c.430C>G (p.Arg144Gly) n.881C>G c.760C>G (p.Arg254Gly) n.790C>G n.663C>G | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19176586G= | CA2395758246 | SLC25A1 | c.739C= (p.Arg247=) c.430C= (p.Arg144=) n.881C= c.760C= (p.Arg254=) n.790C= n.663C= | |
22 | g.19176586G>T | CA513188338 | SLC25A1 | c.739C>A (p.Arg247=) c.430C>A (p.Arg144=) n.881C>A c.760C>A (p.Arg254=) n.790C>A n.663C>A | dbSNP |
22 | g.19176587G>A | CA513188339 | SLC25A1 | c.738C>T (p.Thr246=) c.429C>T (p.Thr143=) n.880C>T c.759C>T (p.Thr253=) n.789C>T n.662C>T | gnomAD v4 |
22 | g.19176587G>C | CA10097330 | SLC25A1 | c.738C>G (p.Thr246=) c.429C>G (p.Thr143=) n.880C>G c.759C>G (p.Thr253=) n.789C>G n.662C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176587G= | CA2395758249 | SLC25A1 | c.738C= (p.Thr246=) c.429C= (p.Thr143=) n.880C= c.759C= (p.Thr253=) n.789C= n.662C= | |
22 | g.19176587G>T | CA513188340 | SLC25A1 | c.738C>A (p.Thr246=) c.429C>A (p.Thr143=) n.880C>A c.759C>A (p.Thr253=) n.789C>A n.662C>A | |
22 | g.19176588G>A | CA410635913 | SLC25A1 | c.737C>T (p.Thr246Ile) c.428C>T (p.Thr143Ile) n.879C>T c.758C>T (p.Thr253Ile) n.788C>T n.661C>T | |
22 | g.19176588G>C | CA410635914 | SLC25A1 | c.737C>G (p.Thr246Ser) c.428C>G (p.Thr143Ser) n.879C>G c.758C>G (p.Thr253Ser) n.788C>G n.661C>G | |
22 | g.19176588G= | CA2395758254 | SLC25A1 | c.737C= (p.Thr246=) c.428C= (p.Thr143=) n.879C= c.758C= (p.Thr253=) n.788C= n.661C= | |
22 | g.19176588G>T | CA410635916 | SLC25A1 | c.737C>A (p.Thr246Asn) c.428C>A (p.Thr143Asn) n.879C>A c.758C>A (p.Thr253Asn) n.788C>A n.661C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176589T>A | CA410635924 | SLC25A1 | c.736A>T (p.Thr246Ser) c.427A>T (p.Thr143Ser) n.878A>T c.757A>T (p.Thr253Ser) n.787A>T n.660A>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176589T>C | CA410635925 | SLC25A1 | c.736A>G (p.Thr246Ala) c.427A>G (p.Thr143Ala) n.878A>G c.757A>G (p.Thr253Ala) n.787A>G n.660A>G | |
22 | g.19176589T>G | CA410635926 | SLC25A1 | c.736A>C (p.Thr246Pro) c.427A>C (p.Thr143Pro) n.878A>C c.757A>C (p.Thr253Pro) n.787A>C n.660A>C | |
22 | g.19176589T= | CA2395758257 | SLC25A1 | c.736A= (p.Thr246=) c.427A= (p.Thr143=) n.878A= c.757A= (p.Thr253=) n.787A= n.660A= | |
22 | g.19176590C>A | CA410635928 | SLC25A1 | c.735G>T (p.Lys245Asn) c.426G>T (p.Lys142Asn) n.877G>T c.756G>T (p.Lys252Asn) n.786G>T n.659G>T | |
22 | g.19176590C= | CA2395758260 | SLC25A1 | c.735G= (p.Lys245=) c.426G= (p.Lys142=) n.877G= c.756G= (p.Lys252=) n.786G= n.659G= | |
22 | g.19176590C>G | CA410635929 | SLC25A1 | c.735G>C (p.Lys245Asn) c.426G>C (p.Lys142Asn) n.877G>C c.756G>C (p.Lys252Asn) n.786G>C n.659G>C | gnomAD v4 |
22 | g.19176590C>T | CA513188341 | SLC25A1 | c.735G>A (p.Lys245=) c.426G>A (p.Lys142=) n.877G>A c.756G>A (p.Lys252=) n.786G>A n.659G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176591T>A | CA410635936 | SLC25A1 | c.734A>T (p.Lys245Met) c.425A>T (p.Lys142Met) n.876A>T c.755A>T (p.Lys252Met) n.785A>T n.658A>T | |
22 | g.19176591T>C | CA410635940 | SLC25A1 | c.734A>G (p.Lys245Arg) c.425A>G (p.Lys142Arg) n.876A>G c.755A>G (p.Lys252Arg) n.785A>G n.658A>G | gnomAD v4 |
22 | g.19176591T>G | CA410635942 | SLC25A1 | c.734A>C (p.Lys245Thr) c.425A>C (p.Lys142Thr) n.876A>C c.755A>C (p.Lys252Thr) n.785A>C n.658A>C | |
22 | g.19176592T>A | CA410635954 | SLC25A1 | c.733A>T (p.Lys245Ter) c.424A>T (p.Lys142Ter) n.875A>T c.754A>T (p.Lys252Ter) n.784A>T n.657A>T | |
22 | g.19176592T>C | CA410635953 | SLC25A1 | c.733A>G (p.Lys245Glu) c.424A>G (p.Lys142Glu) n.875A>G c.754A>G (p.Lys252Glu) n.784A>G n.657A>G | |
22 | g.19176592T>G | CA410635952 | SLC25A1 | c.733A>C (p.Lys245Gln) c.424A>C (p.Lys142Gln) n.875A>C c.754A>C (p.Lys252Gln) n.784A>C n.657A>C | gnomAD v4 |
22 | g.19176593A= | CA2395758263 | SLC25A1 | c.732T= (p.Ile244=) c.423T= (p.Ile141=) n.874T= c.753T= (p.Ile251=) n.783T= n.656T= | |
22 | g.19176593A>C | CA410635956 | SLC25A1 | c.732T>G (p.Ile244Met) c.423T>G (p.Ile141Met) n.874T>G c.753T>G (p.Ile251Met) n.783T>G n.656T>G | |
22 | g.19176593A>G | CA513188346 | SLC25A1 | c.732T>C (p.Ile244=) c.423T>C (p.Ile141=) n.874T>C c.753T>C (p.Ile251=) n.783T>C n.656T>C | |
22 | g.19176593A>T | CA513188345 | SLC25A1 | c.732T>A (p.Ile244=) c.423T>A (p.Ile141=) n.874T>A c.753T>A (p.Ile251=) n.783T>A n.656T>A | |
22 | g.19176594dup | CA2818380977 | SLC25A1 | c.732dup (p.Lys245Ter) c.423dup (p.Lys142Ter) n.874dup c.753dup (p.Lys252Ter) n.783dup n.656dup | |
22 | g.19176594del | CA645608327 | SLC25A1 | c.732del (p.Lys245ArgfsTer23) c.423del (p.Lys142ArgfsTer23) n.874del c.753del (p.Lys252ArgfsTer23) n.783del n.656del | COSMIC |
22 | g.19176593_19176594insT | CA751416421 | SLC25A1 | c.731_732insA (p.Lys245Ter) c.422_423insA (p.Lys142Ter) n.873_874insA c.752_753insA (p.Lys252Ter) n.782_783insA n.655_656insA | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176594A>C | CA410635959 | SLC25A1 | c.731T>G (p.Ile244Ser) c.422T>G (p.Ile141Ser) n.873T>G c.752T>G (p.Ile251Ser) n.782T>G n.655T>G | |
22 | g.19176594A>G | CA410635966 | SLC25A1 | c.731T>C (p.Ile244Thr) c.422T>C (p.Ile141Thr) n.873T>C c.752T>C (p.Ile251Thr) n.782T>C n.655T>C | |
22 | g.19176594A>T | CA410635970 | SLC25A1 | c.731T>A (p.Ile244Asn) c.422T>A (p.Ile141Asn) n.873T>A c.752T>A (p.Ile251Asn) n.782T>A n.655T>A | |
22 | g.19176595T>A | CA410635973 | SLC25A1 | c.730A>T (p.Ile244Phe) c.421A>T (p.Ile141Phe) n.872A>T c.751A>T (p.Ile251Phe) n.781A>T n.654A>T | |
22 | g.19176595T>C | CA410635975 | SLC25A1 | c.730A>G (p.Ile244Val) c.421A>G (p.Ile141Val) n.872A>G c.751A>G (p.Ile251Val) n.781A>G n.654A>G | |
22 | g.19176595T>G | CA410635980 | SLC25A1 | c.730A>C (p.Ile244Leu) c.421A>C (p.Ile141Leu) n.872A>C c.751A>C (p.Ile251Leu) n.781A>C n.654A>C | |
22 | g.19176596C>A | CA513188348 | SLC25A1 | c.729G>T (p.Val243=) c.420G>T (p.Val140=) n.871G>T c.750G>T (p.Val250=) n.780G>T n.653G>T | gnomAD v4 |
22 | g.19176596C>G | CA513188350 | SLC25A1 | c.729G>C (p.Val243=) c.420G>C (p.Val140=) n.871G>C c.750G>C (p.Val250=) n.780G>C n.653G>C | |
22 | g.19176596C>T | CA513188349 | SLC25A1 | c.729G>A (p.Val243=) c.420G>A (p.Val140=) n.871G>A c.750G>A (p.Val250=) n.780G>A n.653G>A | |
22 | g.19176597A>C | CA410635985 | SLC25A1 | c.728T>G (p.Val243Gly) c.419T>G (p.Val140Gly) n.870T>G c.749T>G (p.Val250Gly) n.779T>G n.652T>G | |
22 | g.19176597A>G | CA410635992 | SLC25A1 | c.728T>C (p.Val243Ala) c.419T>C (p.Val140Ala) n.870T>C c.749T>C (p.Val250Ala) n.779T>C n.652T>C | |
22 | g.19176597A>T | CA410635994 | SLC25A1 | c.728T>A (p.Val243Glu) c.419T>A (p.Val140Glu) n.870T>A c.749T>A (p.Val250Glu) n.779T>A n.652T>A | |
22 | g.19176598C>A | CA410635996 | SLC25A1 | c.727G>T (p.Val243Leu) c.418G>T (p.Val140Leu) n.869G>T c.748G>T (p.Val250Leu) n.778G>T n.651G>T | |
22 | g.19176598C= | CA2395758269 | SLC25A1 | c.727G= (p.Val243=) c.418G= (p.Val140=) n.869G= c.748G= (p.Val250=) n.778G= n.651G= | |
22 | g.19176598C>G | CA410635997 | SLC25A1 | c.727G>C (p.Val243Leu) c.418G>C (p.Val140Leu) n.869G>C c.748G>C (p.Val250Leu) n.778G>C n.651G>C | |
22 | g.19176598C>T | CA321344245 | SLC25A1 | c.727G>A (p.Val243Met) c.418G>A (p.Val140Met) n.869G>A c.748G>A (p.Val250Met) n.778G>A n.651G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19176599A>C | CA410636000 | SLC25A1 | c.726T>G (p.Asp242Glu) c.417T>G (p.Asp139Glu) n.868T>G c.747T>G (p.Asp249Glu) n.777T>G n.650T>G | |
22 | g.19176599A>G | CA513188351 | SLC25A1 | c.726T>C (p.Asp242=) c.417T>C (p.Asp139=) n.868T>C c.747T>C (p.Asp249=) n.777T>C n.650T>C | gnomAD v4 |
22 | g.19176599A>T | CA410636004 | SLC25A1 | c.726T>A (p.Asp242Glu) c.417T>A (p.Asp139Glu) n.868T>A c.747T>A (p.Asp249Glu) n.777T>A n.650T>A | |
22 | g.19176600T>A | CA410636009 | SLC25A1 | c.725A>T (p.Asp242Val) c.416A>T (p.Asp139Val) n.867A>T c.746A>T (p.Asp249Val) n.776A>T n.649A>T | |
22 | g.19176600T>C | CA410636017 | SLC25A1 | c.725A>G (p.Asp242Gly) c.416A>G (p.Asp139Gly) n.867A>G c.746A>G (p.Asp249Gly) n.776A>G n.649A>G | |
22 | g.19176600T>G | CA410636016 | SLC25A1 | c.725A>C (p.Asp242Ala) c.416A>C (p.Asp139Ala) n.867A>C c.746A>C (p.Asp249Ala) n.776A>C n.649A>C | |
22 | g.19176601C>A | CA410636021 | SLC25A1 | c.724G>T (p.Asp242Tyr) c.415G>T (p.Asp139Tyr) n.866G>T c.745G>T (p.Asp249Tyr) n.775G>T n.648G>T | |
22 | g.19176601C= | CA2395758271 | SLC25A1 | c.724G= (p.Asp242=) c.415G= (p.Asp139=) n.866G= c.745G= (p.Asp249=) n.775G= n.648G= | |
22 | g.19176601C>G | CA410636032 | SLC25A1 | c.724G>C (p.Asp242His) c.415G>C (p.Asp139His) n.866G>C c.745G>C (p.Asp249His) n.775G>C n.648G>C | |
22 | g.19176601C>T | CA410636040 | SLC25A1 | c.724G>A (p.Asp242Asn) c.415G>A (p.Asp139Asn) n.866G>A c.745G>A (p.Asp249Asn) n.775G>A n.648G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176602C>A | CA513188352 | SLC25A1 | c.723G>T (p.Leu241=) c.414G>T (p.Leu138=) n.865G>T c.744G>T (p.Leu248=) n.774G>T n.647G>T | |
22 | g.19176602C= | CA2395758275 | SLC25A1 | c.723G= (p.Leu241=) c.414G= (p.Leu138=) n.865G= c.744G= (p.Leu248=) n.774G= n.647G= | |
22 | g.19176602C>G | CA513188353 | SLC25A1 | c.723G>C (p.Leu241=) c.414G>C (p.Leu138=) n.865G>C c.744G>C (p.Leu248=) n.774G>C n.647G>C | |
22 | g.19176602C>T | CA513188354 | SLC25A1 | c.723G>A (p.Leu241=) c.414G>A (p.Leu138=) n.865G>A c.744G>A (p.Leu248=) n.774G>A n.647G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19176603A>C | CA410636047 | SLC25A1 | c.722T>G (p.Leu241Arg) c.413T>G (p.Leu138Arg) n.864T>G c.743T>G (p.Leu248Arg) n.773T>G n.646T>G | |
22 | g.19176603A>G | CA410636059 | SLC25A1 | c.722T>C (p.Leu241Pro) c.413T>C (p.Leu138Pro) n.864T>C c.743T>C (p.Leu248Pro) n.773T>C n.646T>C | |
22 | g.19176603A>T | CA410636062 | SLC25A1 | c.722T>A (p.Leu241Gln) c.413T>A (p.Leu138Gln) n.864T>A c.743T>A (p.Leu248Gln) n.773T>A n.646T>A | |
22 | g.19176604G>A | CA513188355 | SLC25A1 | c.721C>T (p.Leu241=) c.412C>T (p.Leu138=) n.863C>T c.742C>T (p.Leu248=) n.772C>T n.645C>T | gnomAD v4 |
22 | g.19176604G>C | CA410636069 | SLC25A1 | c.721C>G (p.Leu241Val) c.412C>G (p.Leu138Val) n.863C>G c.742C>G (p.Leu248Val) n.772C>G n.645C>G | |
22 | g.19176604G>T | CA410636072 | SLC25A1 | c.721C>A (p.Leu241Met) c.412C>A (p.Leu138Met) n.863C>A c.742C>A (p.Leu248Met) n.772C>A n.645C>A | |
22 | g.19176607_19176609del | CA2655261460 | SLC25A1 | c.719_721del (p.Pro240del) c.410_412del (p.Pro137del) n.861_863del c.740_742del (p.Pro247del) n.770_772del n.643_645del | gnomAD v4 |
22 | g.19176605A>C | CA513188356 | SLC25A1 | c.720T>G (p.Pro240=) c.411T>G (p.Pro137=) n.862T>G c.741T>G (p.Pro247=) n.771T>G n.644T>G | |
22 | g.19176605A>G | CA513188357 | SLC25A1 | c.720T>C (p.Pro240=) c.411T>C (p.Pro137=) n.862T>C c.741T>C (p.Pro247=) n.771T>C n.644T>C | |
22 | g.19176605A>T | CA513188358 | SLC25A1 | c.720T>A (p.Pro240=) c.411T>A (p.Pro137=) n.862T>A c.741T>A (p.Pro247=) n.771T>A n.644T>A | |
22 | g.19176606G>A | CA410636080 | SLC25A1 | c.719C>T (p.Pro240Leu) c.410C>T (p.Pro137Leu) n.861C>T c.740C>T (p.Pro247Leu) n.770C>T n.643C>T | gnomAD v4 |
22 | g.19176606G>C | CA410636084 | SLC25A1 | c.719C>G (p.Pro240Arg) c.410C>G (p.Pro137Arg) n.861C>G c.740C>G (p.Pro247Arg) n.770C>G n.643C>G | |
22 | g.19176606G>T | CA410636088 | SLC25A1 | c.719C>A (p.Pro240His) c.410C>A (p.Pro137His) n.861C>A c.740C>A (p.Pro247His) n.770C>A n.643C>A | |
22 | g.19176607G>A | CA410636100 | SLC25A1 | c.718C>T (p.Pro240Ser) c.409C>T (p.Pro137Ser) n.860C>T c.739C>T (p.Pro247Ser) n.769C>T n.642C>T | ClinVar dbSNP gnomAD v4 |
22 | g.19176607G>C | CA410636092 | SLC25A1 | c.718C>G (p.Pro240Ala) c.409C>G (p.Pro137Ala) n.860C>G c.739C>G (p.Pro247Ala) n.769C>G n.642C>G | |
22 | g.19176607G= | CA2395758278 | SLC25A1 | c.718C= (p.Pro240=) c.409C= (p.Pro137=) n.860C= c.739C= (p.Pro247=) n.769C= n.642C= | |
22 | g.19176607G>T | CA410636098 | SLC25A1 | c.718C>A (p.Pro240Thr) c.409C>A (p.Pro137Thr) n.860C>A c.739C>A (p.Pro247Thr) n.769C>A n.642C>A | |
22 | g.19176608A= | CA2395758284 | SLC25A1 | c.717T= (p.Thr239=) c.408T= (p.Thr136=) n.859T= c.738T= (p.Thr246=) n.768T= n.641T= | |
22 | g.19176608A>C | CA513188359 | SLC25A1 | c.717T>G (p.Thr239=) c.408T>G (p.Thr136=) n.859T>G c.738T>G (p.Thr246=) n.768T>G n.641T>G | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19176608A>G | CA513188360 | SLC25A1 | c.717T>C (p.Thr239=) c.408T>C (p.Thr136=) n.859T>C c.738T>C (p.Thr246=) n.768T>C n.641T>C | |
22 | g.19176608A>T | CA513188361 | SLC25A1 | c.717T>A (p.Thr239=) c.408T>A (p.Thr136=) n.859T>A c.738T>A (p.Thr246=) n.768T>A n.641T>A | |
22 | g.19176609G>A | CA410636106 | SLC25A1 | c.716C>T (p.Thr239Ile) c.407C>T (p.Thr136Ile) n.858C>T c.737C>T (p.Thr246Ile) n.767C>T n.640C>T | |
22 | g.19176609G>C | CA410636109 | SLC25A1 | c.716C>G (p.Thr239Ser) c.407C>G (p.Thr136Ser) n.858C>G c.737C>G (p.Thr246Ser) n.767C>G n.640C>G | dbSNP |
22 | g.19176609G= | CA2395758286 | SLC25A1 | c.716C= (p.Thr239=) c.407C= (p.Thr136=) n.858C= c.737C= (p.Thr246=) n.767C= n.640C= | |
22 | g.19176609G>T | CA410636111 | SLC25A1 | c.716C>A (p.Thr239Asn) c.407C>A (p.Thr136Asn) n.858C>A c.737C>A (p.Thr246Asn) n.767C>A n.640C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176610T>A | CA410636112 | SLC25A1 | c.715A>T (p.Thr239Ser) c.406A>T (p.Thr136Ser) n.857A>T c.736A>T (p.Thr246Ser) n.766A>T n.639A>T | COSMIC |
22 | g.19176610T>C | CA410636113 | SLC25A1 | c.715A>G (p.Thr239Ala) c.406A>G (p.Thr136Ala) n.857A>G c.736A>G (p.Thr246Ala) n.766A>G n.639A>G | |
22 | g.19176610T>G | CA410636116 | SLC25A1 | c.715A>C (p.Thr239Pro) c.406A>C (p.Thr136Pro) n.857A>C c.736A>C (p.Thr246Pro) n.766A>C n.639A>C | |
22 | g.19176611G>A | CA513188362 | SLC25A1 | c.714C>T (p.Asn238=) c.405C>T (p.Asn135=) n.856C>T c.735C>T (p.Asn245=) n.765C>T n.638C>T | |
22 | g.19176611G>C | CA410636121 | SLC25A1 | c.714C>G (p.Asn238Lys) c.405C>G (p.Asn135Lys) n.856C>G c.735C>G (p.Asn245Lys) n.765C>G n.638C>G | |
22 | g.19176611G>T | CA410636123 | SLC25A1 | c.714C>A (p.Asn238Lys) c.405C>A (p.Asn135Lys) n.856C>A c.735C>A (p.Asn245Lys) n.765C>A n.638C>A | COSMIC |
22 | g.19176612T>A | CA410636127 | SLC25A1 | c.713A>T (p.Asn238Ile) c.404A>T (p.Asn135Ile) n.855A>T c.734A>T (p.Asn245Ile) n.764A>T n.637A>T | |
22 | g.19176612T>C | CA410636131 | SLC25A1 | c.713A>G (p.Asn238Ser) c.404A>G (p.Asn135Ser) n.855A>G c.734A>G (p.Asn245Ser) n.764A>G n.637A>G | ClinVar |
22 | g.19176612T>G | CA410636136 | SLC25A1 | c.713A>C (p.Asn238Thr) c.404A>C (p.Asn135Thr) n.855A>C c.734A>C (p.Asn245Thr) n.764A>C n.637A>C | |
22 | g.19176613T>A | CA410636143 | SLC25A1 | c.712A>T (p.Asn238Tyr) c.403A>T (p.Asn135Tyr) n.854A>T c.733A>T (p.Asn245Tyr) n.763A>T n.636A>T | |
22 | g.19176613T>C | CA410636147 | SLC25A1 | c.712A>G (p.Asn238Asp) c.403A>G (p.Asn135Asp) n.854A>G c.733A>G (p.Asn245Asp) n.763A>G n.636A>G | |
22 | g.19176613T>G | CA410636140 | SLC25A1 | c.712A>C (p.Asn238His) c.403A>C (p.Asn135His) n.854A>C c.733A>C (p.Asn245His) n.763A>C n.636A>C | |
22 | g.19176614T>A | CA10097331 | SLC25A1 | c.711A>T (p.Gly237=) c.402A>T (p.Gly134=) n.853A>T c.732A>T (p.Gly244=) n.762A>T n.635A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176614T>C | CA513188363 | SLC25A1 | c.711A>G (p.Gly237=) c.402A>G (p.Gly134=) n.853A>G c.732A>G (p.Gly244=) n.762A>G n.635A>G | |
22 | g.19176614T>G | CA513188364 | SLC25A1 | c.711A>C (p.Gly237=) c.402A>C (p.Gly134=) n.853A>C c.732A>C (p.Gly244=) n.762A>C n.635A>C | |
22 | g.19176614T= | CA2395758290 | SLC25A1 | c.711A= (p.Gly237=) c.402A= (p.Gly134=) n.853A= c.732A= (p.Gly244=) n.762A= n.635A= | |
22 | g.19176615C>A | CA410636153 | SLC25A1 | c.710G>T (p.Gly237Val) c.401G>T (p.Gly134Val) n.852G>T c.731G>T (p.Gly244Val) n.761G>T n.634G>T | |
22 | g.19176615C= | CA2395758295 | SLC25A1 | c.710G= (p.Gly237=) c.401G= (p.Gly134=) n.852G= c.731G= (p.Gly244=) n.761G= n.634G= | |
22 | g.19176615C>G | CA410636154 | SLC25A1 | c.710G>C (p.Gly237Ala) c.401G>C (p.Gly134Ala) n.852G>C c.731G>C (p.Gly244Ala) n.761G>C n.634G>C | dbSNP |
22 | g.19176615C>T | CA410636157 | SLC25A1 | c.710G>A (p.Gly237Glu) c.401G>A (p.Gly134Glu) n.852G>A c.731G>A (p.Gly244Glu) n.761G>A n.634G>A | |
22 | g.19176616C>A | CA410636161 | SLC25A1 | c.709G>T (p.Gly237Ter) c.400G>T (p.Gly134Ter) n.851G>T c.730G>T (p.Gly244Ter) n.760G>T n.633G>T | |
22 | g.19176616C>G | CA410636164 | SLC25A1 | c.709G>C (p.Gly237Arg) c.400G>C (p.Gly134Arg) n.851G>C c.730G>C (p.Gly244Arg) n.760G>C n.633G>C | |
22 | g.19176616C>T | CA410636174 | SLC25A1 | c.709G>A (p.Gly237Arg) c.400G>A (p.Gly134Arg) n.851G>A c.730G>A (p.Gly244Arg) n.760G>A n.633G>A | COSMIC |
22 | g.19176617A= | CA2395758298 | SLC25A1 | c.708T= (p.Phe236=) c.399T= (p.Phe133=) n.850T= c.729T= (p.Phe243=) n.759T= n.632T= | |
22 | g.19176617A>C | CA410636181 | SLC25A1 | c.708T>G (p.Phe236Leu) c.399T>G (p.Phe133Leu) n.850T>G c.729T>G (p.Phe243Leu) n.759T>G n.632T>G | |
22 | g.19176617A>G | CA513188366 | SLC25A1 | c.708T>C (p.Phe236=) c.399T>C (p.Phe133=) n.850T>C c.729T>C (p.Phe243=) n.759T>C n.632T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176617A>T | CA410636183 | SLC25A1 | c.708T>A (p.Phe236Leu) c.399T>A (p.Phe133Leu) n.850T>A c.729T>A (p.Phe243Leu) n.759T>A n.632T>A | |
22 | g.19176618A>C | CA410636187 | SLC25A1 | c.707T>G (p.Phe236Cys) c.398T>G (p.Phe133Cys) n.849T>G c.728T>G (p.Phe243Cys) n.758T>G n.631T>G | gnomAD v4 |
22 | g.19176618A>G | CA410636190 | SLC25A1 | c.707T>C (p.Phe236Ser) c.398T>C (p.Phe133Ser) n.849T>C c.728T>C (p.Phe243Ser) n.758T>C n.631T>C | |
22 | g.19176618A>T | CA410636191 | SLC25A1 | c.707T>A (p.Phe236Tyr) c.398T>A (p.Phe133Tyr) n.849T>A c.728T>A (p.Phe243Tyr) n.758T>A n.631T>A | |
22 | g.19176619A>C | CA410636198 | SLC25A1 | c.706T>G (p.Phe236Val) c.397T>G (p.Phe133Val) n.848T>G c.727T>G (p.Phe243Val) n.757T>G n.630T>G | |
22 | g.19176619A>G | CA410636202 | SLC25A1 | c.706T>C (p.Phe236Leu) c.397T>C (p.Phe133Leu) n.848T>C c.727T>C (p.Phe243Leu) n.757T>C n.630T>C | |
22 | g.19176619A>T | CA410636194 | SLC25A1 | c.706T>A (p.Phe236Ile) c.397T>A (p.Phe133Ile) n.848T>A c.727T>A (p.Phe243Ile) n.757T>A n.630T>A | |
22 | g.19176620G>A | CA10097332 | SLC25A1 | c.705C>T (p.Val235=) c.396C>T (p.Val132=) n.847C>T c.726C>T (p.Val242=) n.756C>T n.629C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19176620G>C | CA10097333 | SLC25A1 | c.705C>G (p.Val235=) c.396C>G (p.Val132=) n.847C>G c.726C>G (p.Val242=) n.756C>G n.629C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176620G= | CA2395758303 | SLC25A1 | c.705C= (p.Val235=) c.396C= (p.Val132=) n.847C= c.726C= (p.Val242=) n.756C= n.629C= | |
22 | g.19176620G>T | CA513188367 | SLC25A1 | c.705C>A (p.Val235=) c.396C>A (p.Val132=) n.847C>A c.726C>A (p.Val242=) n.756C>A n.629C>A | |
22 | g.19176621A>C | CA410636215 | SLC25A1 | c.704T>G (p.Val235Gly) c.395T>G (p.Val132Gly) n.846T>G c.725T>G (p.Val242Gly) n.755T>G n.628T>G | |
22 | g.19176621A>G | CA410636216 | SLC25A1 | c.704T>C (p.Val235Ala) c.395T>C (p.Val132Ala) n.846T>C c.725T>C (p.Val242Ala) n.755T>C n.628T>C | |
22 | g.19176621A>T | CA410636217 | SLC25A1 | c.704T>A (p.Val235Asp) c.395T>A (p.Val132Asp) n.846T>A c.725T>A (p.Val242Asp) n.755T>A n.628T>A | gnomAD v4 |
22 | g.19176622C>A | CA410636233 | SLC25A1 | c.703G>T (p.Val235Phe) c.394G>T (p.Val132Phe) n.845G>T c.724G>T (p.Val242Phe) n.754G>T n.627G>T | |
22 | g.19176622C>G | CA410636221 | SLC25A1 | c.703G>C (p.Val235Leu) c.394G>C (p.Val132Leu) n.845G>C c.724G>C (p.Val242Leu) n.754G>C n.627G>C | |
22 | g.19176622C>T | CA410636229 | SLC25A1 | c.703G>A (p.Val235Ile) c.394G>A (p.Val132Ile) n.845G>A c.724G>A (p.Val242Ile) n.754G>A n.627G>A | |
22 | g.19176623A= | CA2395758304 | SLC25A1 | c.702T= (p.Ser234=) c.393T= (p.Ser131=) n.844T= c.723T= (p.Ser241=) n.753T= n.626T= | |
22 | g.19176623A>C | CA410636236 | SLC25A1 | c.702T>G (p.Ser234Arg) c.393T>G (p.Ser131Arg) n.844T>G c.723T>G (p.Ser241Arg) n.753T>G n.626T>G | |
22 | g.19176623A>G | CA513188368 | SLC25A1 | c.702T>C (p.Ser234=) c.393T>C (p.Ser131=) n.844T>C c.723T>C (p.Ser241=) n.753T>C n.626T>C | |
22 | g.19176623A>T | CA410636237 | SLC25A1 | c.702T>A (p.Ser234Arg) c.393T>A (p.Ser131Arg) n.844T>A c.723T>A (p.Ser241Arg) n.753T>A n.626T>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176624C>A | CA410636241 | SLC25A1 | c.701G>T (p.Ser234Ile) c.392G>T (p.Ser131Ile) n.843G>T c.722G>T (p.Ser241Ile) n.752G>T n.625G>T | |
22 | g.19176624C>G | CA410636244 | SLC25A1 | c.701G>C (p.Ser234Thr) c.392G>C (p.Ser131Thr) n.843G>C c.722G>C (p.Ser241Thr) n.752G>C n.625G>C | gnomAD v4 |
22 | g.19176624C>T | CA410636252 | SLC25A1 | c.701G>A (p.Ser234Asn) c.392G>A (p.Ser131Asn) n.843G>A c.722G>A (p.Ser241Asn) n.752G>A n.625G>A | |
22 | g.19176625T>A | CA410636259 | SLC25A1 | c.700A>T (p.Ser234Cys) c.391A>T (p.Ser131Cys) n.842A>T c.721A>T (p.Ser241Cys) n.751A>T n.624A>T | |
22 | g.19176625T>C | CA410636254 | SLC25A1 | c.700A>G (p.Ser234Gly) c.391A>G (p.Ser131Gly) n.842A>G c.721A>G (p.Ser241Gly) n.751A>G n.624A>G | |
22 | g.19176625T>G | CA410636253 | SLC25A1 | c.700A>C (p.Ser234Arg) c.391A>C (p.Ser131Arg) n.842A>C c.721A>C (p.Ser241Arg) n.751A>C n.624A>C | |
22 | g.19176626G>A | CA513188372 | SLC25A1 | c.699C>T (p.Ala233=) c.390C>T (p.Ala130=) n.841C>T c.720C>T (p.Ala240=) n.750C>T n.623C>T | |
22 | g.19176626G>C | CA513188373 | SLC25A1 | c.699C>G (p.Ala233=) c.390C>G (p.Ala130=) n.841C>G c.720C>G (p.Ala240=) n.750C>G n.623C>G | |
22 | g.19176626G= | CA2395758305 | SLC25A1 | c.699C= (p.Ala233=) c.390C= (p.Ala130=) n.841C= c.720C= (p.Ala240=) n.750C= n.623C= | |
22 | g.19176626G>T | CA513188374 | SLC25A1 | c.699C>A (p.Ala233=) c.390C>A (p.Ala130=) n.841C>A c.720C>A (p.Ala240=) n.750C>A n.623C>A | dbSNP gnomAD v4 |
22 | g.19176627G>A | CA410636263 | SLC25A1 | c.698C>T (p.Ala233Val) c.389C>T (p.Ala130Val) n.840C>T c.719C>T (p.Ala240Val) n.749C>T n.622C>T | dbSNP COSMIC |
22 | g.19176627G>C | CA410636269 | SLC25A1 | c.698C>G (p.Ala233Gly) c.389C>G (p.Ala130Gly) n.840C>G c.719C>G (p.Ala240Gly) n.749C>G n.622C>G | |
22 | g.19176627G= | CA2395758306 | SLC25A1 | c.698C= (p.Ala233=) c.389C= (p.Ala130=) n.840C= c.719C= (p.Ala240=) n.749C= n.622C= | |
22 | g.19176627G>T | CA410636267 | SLC25A1 | c.698C>A (p.Ala233Asp) c.389C>A (p.Ala130Asp) n.840C>A c.719C>A (p.Ala240Asp) n.749C>A n.622C>A | |
22 | g.19176628C>A | CA410636273 | SLC25A1 | c.697G>T (p.Ala233Ser) c.388G>T (p.Ala130Ser) n.839G>T c.718G>T (p.Ala240Ser) n.748G>T n.621G>T | |
22 | g.19176628C= | CA2395758307 | SLC25A1 | c.697G= (p.Ala233=) c.388G= (p.Ala130=) n.839G= c.718G= (p.Ala240=) n.748G= n.621G= | |
22 | g.19176628C>G | CA410636280 | SLC25A1 | c.697G>C (p.Ala233Pro) c.388G>C (p.Ala130Pro) n.839G>C c.718G>C (p.Ala240Pro) n.748G>C n.621G>C | gnomAD v4 |
22 | g.19176628C>T | CA216411 | SLC25A1 | c.697G>A (p.Ala233Thr) c.388G>A (p.Ala130Thr) n.839G>A c.718G>A (p.Ala240Thr) n.748G>A n.621G>A | ClinVar dbSNP gnomAD v4 |
22 | g.19176629T>A | CA513188376 | SLC25A1 | c.696A>T (p.Ala232=) c.387A>T (p.Ala129=) n.838A>T c.717A>T (p.Ala239=) n.747A>T n.620A>T | |
22 | g.19176629T>C | CA513188379 | SLC25A1 | c.696A>G (p.Ala232=) c.387A>G (p.Ala129=) n.838A>G c.717A>G (p.Ala239=) n.747A>G n.620A>G | |
22 | g.19176629T>G | CA513188378 | SLC25A1 | c.696A>C (p.Ala232=) c.387A>C (p.Ala129=) n.838A>C c.717A>C (p.Ala239=) n.747A>C n.620A>C | |
22 | g.19176630G>A | CA410636284 | SLC25A1 | c.695C>T (p.Ala232Val) c.386C>T (p.Ala129Val) n.837C>T c.716C>T (p.Ala239Val) n.746C>T n.619C>T | dbSNP |
22 | g.19176630G>C | CA410636299 | SLC25A1 | c.695C>G (p.Ala232Gly) c.386C>G (p.Ala129Gly) n.837C>G c.716C>G (p.Ala239Gly) n.746C>G n.619C>G | |
22 | g.19176630G= | CA2395758308 | SLC25A1 | c.695C= (p.Ala232=) c.386C= (p.Ala129=) n.837C= c.716C= (p.Ala239=) n.746C= n.619C= | |
22 | g.19176630G>T | CA410636295 | SLC25A1 | c.695C>A (p.Ala232Glu) c.386C>A (p.Ala129Glu) n.837C>A c.716C>A (p.Ala239Glu) n.746C>A n.619C>A | |
22 | g.19176631C>A | CA410636303 | SLC25A1 | c.694G>T (p.Ala232Ser) c.385G>T (p.Ala129Ser) n.836G>T c.715G>T (p.Ala239Ser) n.745G>T n.618G>T | |
22 | g.19176631C= | CA2395758309 | SLC25A1 | c.694G= (p.Ala232=) c.385G= (p.Ala129=) n.836G= c.715G= (p.Ala239=) n.745G= n.618G= | |
22 | g.19176631C>G | CA410636305 | SLC25A1 | c.694G>C (p.Ala232Pro) c.385G>C (p.Ala129Pro) n.836G>C c.715G>C (p.Ala239Pro) n.745G>C n.618G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176631C>T | CA10097334 | SLC25A1 | c.694G>A (p.Ala232Thr) c.385G>A (p.Ala129Thr) n.836G>A c.715G>A (p.Ala239Thr) n.745G>A n.618G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19176632G>A | CA10097335 | SLC25A1 | c.693C>T (p.Gly231=) c.384C>T (p.Gly128=) n.835C>T c.714C>T (p.Gly238=) n.744C>T n.617C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176632G>C | CA513188380 | SLC25A1 | c.693C>G (p.Gly231=) c.384C>G (p.Gly128=) n.835C>G c.714C>G (p.Gly238=) n.744C>G n.617C>G | |
22 | g.19176632G= | CA2395758310 | SLC25A1 | c.693C= (p.Gly231=) c.384C= (p.Gly128=) n.835C= c.714C= (p.Gly238=) n.744C= n.617C= | |
22 | g.19176632G>T | CA513188381 | SLC25A1 | c.693C>A (p.Gly231=) c.384C>A (p.Gly128=) n.835C>A c.714C>A (p.Gly238=) n.744C>A n.617C>A | |
22 | g.19176633C>A | CA410636326 | SLC25A1 | c.692G>T (p.Gly231Val) c.383G>T (p.Gly128Val) n.834G>T c.713G>T (p.Gly238Val) n.743G>T n.616G>T | |
22 | g.19176633C>G | CA410636330 | SLC25A1 | c.692G>C (p.Gly231Ala) c.383G>C (p.Gly128Ala) n.834G>C c.713G>C (p.Gly238Ala) n.743G>C n.616G>C | |
22 | g.19176633C>T | CA410636332 | SLC25A1 | c.692G>A (p.Gly231Asp) c.383G>A (p.Gly128Asp) n.834G>A c.713G>A (p.Gly238Asp) n.743G>A n.616G>A | |
22 | g.19176634C>A | CA410636335 | SLC25A1 | c.691G>T (p.Gly231Cys) c.382G>T (p.Gly128Cys) n.833G>T c.712G>T (p.Gly238Cys) n.742G>T n.615G>T | |
22 | g.19176634C= | CA2395758311 | SLC25A1 | c.691G= (p.Gly231=) c.382G= (p.Gly128=) n.833G= c.712G= (p.Gly238=) n.742G= n.615G= | |
22 | g.19176634C>G | CA410636336 | SLC25A1 | c.691G>C (p.Gly231Arg) c.382G>C (p.Gly128Arg) n.833G>C c.712G>C (p.Gly238Arg) n.742G>C n.615G>C | dbSNP gnomAD v4 |
22 | g.19176634C>T | CA410636339 | SLC25A1 | c.691G>A (p.Gly231Ser) c.382G>A (p.Gly128Ser) n.833G>A c.712G>A (p.Gly238Ser) n.742G>A n.615G>A | |
22 | g.19176635T>A | CA513188384 | SLC25A1 | c.690A>T (p.Ala230=) c.381A>T (p.Ala127=) n.832A>T c.711A>T (p.Ala237=) n.741A>T n.614A>T | |
22 | g.19176635T>C | CA513188385 | SLC25A1 | c.690A>G (p.Ala230=) c.381A>G (p.Ala127=) n.832A>G c.711A>G (p.Ala237=) n.741A>G n.614A>G | ClinVar |
22 | g.19176635T>G | CA513188386 | SLC25A1 | c.690A>C (p.Ala230=) c.381A>C (p.Ala127=) n.832A>C c.711A>C (p.Ala237=) n.741A>C n.614A>C | |
22 | g.19176636G>A | CA410636360 | SLC25A1 | c.689C>T (p.Ala230Val) c.380C>T (p.Ala127Val) n.831C>T c.710C>T (p.Ala237Val) n.740C>T n.613C>T | dbSNP |
22 | g.19176636G>C | CA410636356 | SLC25A1 | c.689C>G (p.Ala230Gly) c.380C>G (p.Ala127Gly) n.831C>G c.710C>G (p.Ala237Gly) n.740C>G n.613C>G | gnomAD v4 |
22 | g.19176636G= | CA2395758312 | SLC25A1 | c.689C= (p.Ala230=) c.380C= (p.Ala127=) n.831C= c.710C= (p.Ala237=) n.740C= n.613C= | |
22 | g.19176636G>T | CA410636351 | SLC25A1 | c.689C>A (p.Ala230Glu) c.380C>A (p.Ala127Glu) n.831C>A c.710C>A (p.Ala237Glu) n.740C>A n.613C>A | |
22 | g.19176637C>A | CA410636363 | SLC25A1 | c.688G>T (p.Ala230Ser) c.379G>T (p.Ala127Ser) n.830G>T c.709G>T (p.Ala237Ser) n.739G>T n.612G>T | |
22 | g.19176637C>G | CA410636366 | SLC25A1 | c.688G>C (p.Ala230Pro) c.379G>C (p.Ala127Pro) n.830G>C c.709G>C (p.Ala237Pro) n.739G>C n.612G>C | |
22 | g.19176637C>T | CA410636368 | SLC25A1 | c.688G>A (p.Ala230Thr) c.379G>A (p.Ala127Thr) n.830G>A c.709G>A (p.Ala237Thr) n.739G>A n.612G>A | |
22 | g.19176638A= | CA2395758313 | SLC25A1 | c.687T= (p.Ile229=) c.378T= (p.Ile126=) n.829T= c.708T= (p.Ile236=) n.738T= n.611T= | |
22 | g.19176638A>C | CA410636370 | SLC25A1 | c.687T>G (p.Ile229Met) c.378T>G (p.Ile126Met) n.829T>G c.708T>G (p.Ile236Met) n.738T>G n.611T>G | |
22 | g.19176638A>G | CA10097336 | SLC25A1 | c.687T>C (p.Ile229=) c.378T>C (p.Ile126=) n.829T>C c.708T>C (p.Ile236=) n.738T>C n.611T>C | dbSNP ExAC gnomAD v2 |
22 | g.19176638A>T | CA513188387 | SLC25A1 | c.687T>A (p.Ile229=) c.378T>A (p.Ile126=) n.829T>A c.708T>A (p.Ile236=) n.738T>A n.611T>A | |
22 | g.19176639A= | CA2395758314 | SLC25A1 | c.686T= (p.Ile229=) c.377T= (p.Ile126=) n.828T= c.707T= (p.Ile236=) n.737T= n.610T= | |
22 | g.19176639A>C | CA410636374 | SLC25A1 | c.686T>G (p.Ile229Ser) c.377T>G (p.Ile126Ser) n.828T>G c.707T>G (p.Ile236Ser) n.737T>G n.610T>G | |
22 | g.19176639A>G | CA10097337 | SLC25A1 | c.686T>C (p.Ile229Thr) c.377T>C (p.Ile126Thr) n.828T>C c.707T>C (p.Ile236Thr) n.737T>C n.610T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176639A>T | CA410636375 | SLC25A1 | c.686T>A (p.Ile229Asn) c.377T>A (p.Ile126Asn) n.828T>A c.707T>A (p.Ile236Asn) n.737T>A n.610T>A | ClinVar |
22 | g.19176640T>A | CA410636379 | SLC25A1 | c.685A>T (p.Ile229Phe) c.376A>T (p.Ile126Phe) n.827A>T c.706A>T (p.Ile236Phe) n.736A>T n.609A>T | |
22 | g.19176640T>C | CA410636389 | SLC25A1 | c.685A>G (p.Ile229Val) c.376A>G (p.Ile126Val) n.827A>G c.706A>G (p.Ile236Val) n.736A>G n.609A>G | gnomAD v4 |
22 | g.19176640T>G | CA410636395 | SLC25A1 | c.685A>C (p.Ile229Leu) c.376A>C (p.Ile126Leu) n.827A>C c.706A>C (p.Ile236Leu) n.736A>C n.609A>C | |
22 | g.19176641A>C | CA513188389 | SLC25A1 | c.684T>G (p.Ala228=) c.375T>G (p.Ala125=) n.826T>G c.705T>G (p.Ala235=) n.735T>G n.608T>G | |
22 | g.19176641A>G | CA513188390 | SLC25A1 | c.684T>C (p.Ala228=) c.375T>C (p.Ala125=) n.826T>C c.705T>C (p.Ala235=) n.735T>C n.608T>C | |
22 | g.19176641A>T | CA513188391 | SLC25A1 | c.684T>A (p.Ala228=) c.375T>A (p.Ala125=) n.826T>A c.705T>A (p.Ala235=) n.735T>A n.608T>A | |
22 | g.19176642G>A | CA410636403 | SLC25A1 | c.683C>T (p.Ala228Val) c.374C>T (p.Ala125Val) n.825C>T c.704C>T (p.Ala235Val) n.734C>T n.607C>T | |
22 | g.19176642G>C | CA410636402 | SLC25A1 | c.683C>G (p.Ala228Gly) c.374C>G (p.Ala125Gly) n.825C>G c.704C>G (p.Ala235Gly) n.734C>G n.607C>G | gnomAD v4 |
22 | g.19176642G>T | CA410636399 | SLC25A1 | c.683C>A (p.Ala228Asp) c.374C>A (p.Ala125Asp) n.825C>A c.704C>A (p.Ala235Asp) n.734C>A n.607C>A | gnomAD v4 |
22 | g.19176643C>A | CA410636404 | SLC25A1 | c.682G>T (p.Ala228Ser) c.373G>T (p.Ala125Ser) n.824G>T c.703G>T (p.Ala235Ser) n.733G>T n.606G>T | |
22 | g.19176643C>G | CA410636406 | SLC25A1 | c.682G>C (p.Ala228Pro) c.373G>C (p.Ala125Pro) n.824G>C c.703G>C (p.Ala235Pro) n.733G>C n.606G>C | |
22 | g.19176643C>T | CA410636409 | SLC25A1 | c.682G>A (p.Ala228Thr) c.373G>A (p.Ala125Thr) n.824G>A c.703G>A (p.Ala235Thr) n.733G>A n.606G>A | |
22 | g.19176644T>A | CA513188394 | SLC25A1 | c.681A>T (p.Gly227=) c.372A>T (p.Gly124=) n.823A>T c.702A>T (p.Gly234=) n.732A>T n.605A>T | gnomAD v4 |
22 | g.19176644T>C | CA513188395 | SLC25A1 | c.681A>G (p.Gly227=) c.372A>G (p.Gly124=) n.823A>G c.702A>G (p.Gly234=) n.732A>G n.605A>G | gnomAD v4 COSMIC |
22 | g.19176644T>G | CA513188396 | SLC25A1 | c.681A>C (p.Gly227=) c.372A>C (p.Gly124=) n.823A>C c.702A>C (p.Gly234=) n.732A>C n.605A>C | |
22 | g.19176645C>A | CA410636414 | SLC25A1 | c.680G>T (p.Gly227Val) c.371G>T (p.Gly124Val) n.822G>T c.701G>T (p.Gly234Val) n.731G>T n.604G>T | |
22 | g.19176645C>G | CA410636419 | SLC25A1 | c.680G>C (p.Gly227Ala) c.371G>C (p.Gly124Ala) n.822G>C c.701G>C (p.Gly234Ala) n.731G>C n.604G>C | |
22 | g.19176645C>T | CA410636422 | SLC25A1 | c.680G>A (p.Gly227Glu) c.371G>A (p.Gly124Glu) n.822G>A c.701G>A (p.Gly234Glu) n.731G>A n.604G>A | |
22 | g.19176646C>A | CA410636427 | SLC25A1 | c.679G>T (p.Gly227Ter) c.370G>T (p.Gly124Ter) n.821G>T c.700G>T (p.Gly234Ter) n.730G>T n.603G>T | |
22 | g.19176646C= | CA2395758315 | SLC25A1 | c.679G= (p.Gly227=) c.370G= (p.Gly124=) n.821G= c.700G= (p.Gly234=) n.730G= n.603G= | |
22 | g.19176646C>G | CA410636431 | SLC25A1 | c.679G>C (p.Gly227Arg) c.370G>C (p.Gly124Arg) n.821G>C c.700G>C (p.Gly234Arg) n.730G>C n.603G>C | |
22 | g.19176646C>T | CA410636437 | SLC25A1 | c.679G>A (p.Gly227Arg) c.370G>A (p.Gly124Arg) n.821G>A c.700G>A (p.Gly234Arg) n.730G>A n.603G>A | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19176647G>A | CA10097338 | SLC25A1 | c.678C>T (p.Phe226=) c.369C>T (p.Phe123=) n.820C>T c.699C>T (p.Phe233=) n.729C>T n.602C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176647G>C | CA410636441 | SLC25A1 | c.678C>G (p.Phe226Leu) c.369C>G (p.Phe123Leu) n.820C>G c.699C>G (p.Phe233Leu) n.729C>G n.602C>G | |
22 | g.19176647G= | CA2395758316 | SLC25A1 | c.678C= (p.Phe226=) c.369C= (p.Phe123=) n.820C= c.699C= (p.Phe233=) n.729C= n.602C= | |
22 | g.19176647G>T | CA410636442 | SLC25A1 | c.678C>A (p.Phe226Leu) c.369C>A (p.Phe123Leu) n.820C>A c.699C>A (p.Phe233Leu) n.729C>A n.602C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176648A>C | CA410636460 | SLC25A1 | c.677T>G (p.Phe226Cys) c.368T>G (p.Phe123Cys) n.819T>G c.698T>G (p.Phe233Cys) n.728T>G n.601T>G | |
22 | g.19176648A>G | CA410636449 | SLC25A1 | c.677T>C (p.Phe226Ser) c.368T>C (p.Phe123Ser) n.819T>C c.698T>C (p.Phe233Ser) n.728T>C n.601T>C | |
22 | g.19176648A>T | CA410636457 | SLC25A1 | c.677T>A (p.Phe226Tyr) c.368T>A (p.Phe123Tyr) n.819T>A c.698T>A (p.Phe233Tyr) n.728T>A n.601T>A | |
22 | g.19176649A>C | CA410636471 | SLC25A1 | c.676T>G (p.Phe226Val) c.367T>G (p.Phe123Val) n.818T>G c.697T>G (p.Phe233Val) n.727T>G n.600T>G | |
22 | g.19176649A>G | CA410636472 | SLC25A1 | c.676T>C (p.Phe226Leu) c.367T>C (p.Phe123Leu) n.818T>C c.697T>C (p.Phe233Leu) n.727T>C n.600T>C | |
22 | g.19176649A>T | CA410636473 | SLC25A1 | c.676T>A (p.Phe226Ile) c.367T>A (p.Phe123Ile) n.818T>A c.697T>A (p.Phe233Ile) n.727T>A n.600T>A | |
22 | g.19176650G>A | CA513188399 | SLC25A1 | c.675C>T (p.Val225=) c.366C>T (p.Val122=) n.817C>T c.696C>T (p.Val232=) n.726C>T n.599C>T | |
22 | g.19176650G>C | CA513188400 | SLC25A1 | c.675C>G (p.Val225=) c.366C>G (p.Val122=) n.817C>G c.696C>G (p.Val232=) n.726C>G n.599C>G | gnomAD v4 |
22 | g.19176650G>T | CA513188401 | SLC25A1 | c.675C>A (p.Val225=) c.366C>A (p.Val122=) n.817C>A c.696C>A (p.Val232=) n.726C>A n.599C>A | |
22 | g.19176651A>C | CA410636478 | SLC25A1 | c.674T>G (p.Val225Gly) c.365T>G (p.Val122Gly) n.816T>G c.695T>G (p.Val232Gly) n.725T>G n.598T>G | |
22 | g.19176651A>G | CA410636485 | SLC25A1 | c.674T>C (p.Val225Ala) c.365T>C (p.Val122Ala) n.816T>C c.695T>C (p.Val232Ala) n.725T>C n.598T>C | |
22 | g.19176651A>T | CA410636488 | SLC25A1 | c.674T>A (p.Val225Asp) c.365T>A (p.Val122Asp) n.816T>A c.695T>A (p.Val232Asp) n.725T>A n.598T>A | |
22 | g.19176652C>A | CA410636495 | SLC25A1 | c.673G>T (p.Val225Phe) c.364G>T (p.Val122Phe) n.815G>T c.694G>T (p.Val232Phe) n.724G>T n.597G>T | gnomAD v4 |
22 | g.19176652C>G | CA410636496 | SLC25A1 | c.673G>C (p.Val225Leu) c.364G>C (p.Val122Leu) n.815G>C c.694G>C (p.Val232Leu) n.724G>C n.597G>C | gnomAD v4 |
22 | g.19176652C>T | CA410636499 | SLC25A1 | c.673G>A (p.Val225Ile) c.364G>A (p.Val122Ile) n.815G>A c.694G>A (p.Val232Ile) n.724G>A n.597G>A | gnomAD v4 |
22 | g.19176653C>A | CA513188403 | SLC25A1 | c.672G>T (p.Gly224=) c.363G>T (p.Gly121=) n.814G>T c.693G>T (p.Gly231=) n.723G>T n.596G>T | |
22 | g.19176653C= | CA2395758317 | SLC25A1 | c.672G= (p.Gly224=) c.363G= (p.Gly121=) n.814G= c.693G= (p.Gly231=) n.723G= n.596G= | |
22 | g.19176653C>G | CA10097339 | SLC25A1 | c.672G>C (p.Gly224=) c.363G>C (p.Gly121=) n.814G>C c.693G>C (p.Gly231=) n.723G>C n.596G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176653C>T | CA10097340 | SLC25A1 | c.672G>A (p.Gly224=) c.363G>A (p.Gly121=) n.814G>A c.693G>A (p.Gly231=) n.723G>A n.596G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176654C>A | CA410636528 | SLC25A1 | c.671G>T (p.Gly224Val) c.362G>T (p.Gly121Val) n.813G>T c.692G>T (p.Gly231Val) n.722G>T n.595G>T | |
22 | g.19176654C= | CA2395758318 | SLC25A1 | c.671G= (p.Gly224=) c.362G= (p.Gly121=) n.813G= c.692G= (p.Gly231=) n.722G= n.595G= | |
22 | g.19176654C>G | CA410636529 | SLC25A1 | c.671G>C (p.Gly224Ala) c.362G>C (p.Gly121Ala) n.813G>C c.692G>C (p.Gly231Ala) n.722G>C n.595G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.19176654C>T | CA410636527 | SLC25A1 | c.671G>A (p.Gly224Glu) c.362G>A (p.Gly121Glu) n.813G>A c.692G>A (p.Gly231Glu) n.722G>A n.595G>A | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176655C>A | CA410636540 | SLC25A1 | c.670G>T (p.Gly224Trp) c.361G>T (p.Gly121Trp) n.812G>T c.691G>T (p.Gly231Trp) n.721G>T n.594G>T | |
22 | g.19176655C>G | CA410636533 | SLC25A1 | c.670G>C (p.Gly224Arg) c.361G>C (p.Gly121Arg) n.812G>C c.691G>C (p.Gly231Arg) n.721G>C n.594G>C | |
22 | g.19176655C>T | CA410636537 | SLC25A1 | c.670G>A (p.Gly224Arg) c.361G>A (p.Gly121Arg) n.812G>A c.691G>A (p.Gly231Arg) n.721G>A n.594G>A | gnomAD v4 |
22 | g.19176656A= | CA2395758319 | SLC25A1 | c.669T= (p.Thr223=) c.360T= (p.Thr120=) n.811T= c.690T= (p.Thr230=) n.720T= n.593T= | |
22 | g.19176656A>C | CA513188405 | SLC25A1 | c.669T>G (p.Thr223=) c.360T>G (p.Thr120=) n.811T>G c.690T>G (p.Thr230=) n.720T>G n.593T>G | |
22 | g.19176656A>G | CA321344303 | SLC25A1 | c.669T>C (p.Thr223=) c.360T>C (p.Thr120=) n.811T>C c.690T>C (p.Thr230=) n.720T>C n.593T>C | dbSNP |
22 | g.19176656A>T | CA513188407 | SLC25A1 | c.669T>A (p.Thr223=) c.360T>A (p.Thr120=) n.811T>A c.690T>A (p.Thr230=) n.720T>A n.593T>A | |
22 | g.19176657G>A | CA10097341 | SLC25A1 | c.668C>T (p.Thr223Ile) c.359C>T (p.Thr120Ile) n.810C>T c.689C>T (p.Thr230Ile) n.719C>T n.592C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19176657G>C | CA410636556 | SLC25A1 | c.668C>G (p.Thr223Ser) c.359C>G (p.Thr120Ser) n.810C>G c.689C>G (p.Thr230Ser) n.719C>G n.592C>G | gnomAD v4 |
22 | g.19176657G= | CA2395758320 | SLC25A1 | c.668C= (p.Thr223=) c.359C= (p.Thr120=) n.810C= c.689C= (p.Thr230=) n.719C= n.592C= | |
22 | g.19176657G>T | CA410636561 | SLC25A1 | c.668C>A (p.Thr223Asn) c.359C>A (p.Thr120Asn) n.810C>A c.689C>A (p.Thr230Asn) n.719C>A n.592C>A | |
22 | g.19176658T>A | CA410636565 | SLC25A1 | c.667A>T (p.Thr223Ser) c.358A>T (p.Thr120Ser) n.809A>T c.688A>T (p.Thr230Ser) n.718A>T n.591A>T | |
22 | g.19176658T>C | CA410636569 | SLC25A1 | c.667A>G (p.Thr223Ala) c.358A>G (p.Thr120Ala) n.809A>G c.688A>G (p.Thr230Ala) n.718A>G n.591A>G | |
22 | g.19176658T>G | CA410636577 | SLC25A1 | c.667A>C (p.Thr223Pro) c.358A>C (p.Thr120Pro) n.809A>C c.688A>C (p.Thr230Pro) n.718A>C n.591A>C | |
22 | g.19176659G>A | CA513188411 | SLC25A1 | c.666C>T (p.Ile222=) c.357C>T (p.Ile119=) n.808C>T c.687C>T (p.Ile229=) n.717C>T n.590C>T | gnomAD v4 |
22 | g.19176659G>C | CA410636581 | SLC25A1 | c.666C>G (p.Ile222Met) c.357C>G (p.Ile119Met) n.808C>G c.687C>G (p.Ile229Met) n.717C>G n.590C>G | |
22 | g.19176659G>T | CA513188410 | SLC25A1 | c.666C>A (p.Ile222=) c.357C>A (p.Ile119=) n.808C>A c.687C>A (p.Ile229=) n.717C>A n.590C>A | |
22 | g.19176659_19176668delinsGATCAGAGGG | CA2395758321 | SLC25A1 | c.657_666delinsCCCTCTGATC (p.Asn219=) c.348_357delinsCCCTCTGATC (p.Asn116=) n.799_808delinsCCCTCTGATC c.678_687delinsCCCTCTGATC (p.Asn226=) n.708_717delinsCCCTCTGATC n.581_590delinsCCCTCTGATC | |
22 | g.19176660A>C | CA410636584 | SLC25A1 | c.665T>G (p.Ile222Ser) c.356T>G (p.Ile119Ser) n.807T>G c.686T>G (p.Ile229Ser) n.716T>G n.589T>G | |
22 | g.19176660A>G | CA410636588 | SLC25A1 | c.665T>C (p.Ile222Thr) c.356T>C (p.Ile119Thr) n.807T>C c.686T>C (p.Ile229Thr) n.716T>C n.589T>C | |
22 | g.19176660A>T | CA410636595 | SLC25A1 | c.665T>A (p.Ile222Asn) c.356T>A (p.Ile119Asn) n.807T>A c.686T>A (p.Ile229Asn) n.716T>A n.589T>A | |
22 | g.19176660_19176668delinsGAGGTC | CA16621035 | SLC25A1 | c.657_665delinsGACCTC (p.Asn219_Ile222delinsLysThrSer) c.348_356delinsGACCTC (p.Asn116_Ile119delinsLysThrSer) n.799_807delinsGACCTC c.678_686delinsGACCTC (p.Asn226_Ile229delinsLysThrSer) n.708_716delinsGACCTC n.581_589delinsGACCTC | ClinVar dbSNP |
22 | g.19176660_19176669delinsATCAGAGGGT | CA2395758322 | SLC25A1 | c.656_665delinsACCCTCTGAT (p.Asn219=) c.347_356delinsACCCTCTGAT (p.Asn116=) n.798_807delinsACCCTCTGAT c.677_686delinsACCCTCTGAT (p.Asn226=) n.707_716delinsACCCTCTGAT n.580_589delinsACCCTCTGAT | |
22 | g.19176661T>A | CA410636600 | SLC25A1 | c.664A>T (p.Ile222Phe) c.355A>T (p.Ile119Phe) n.806A>T c.685A>T (p.Ile229Phe) n.715A>T n.588A>T | |
22 | g.19176661T>C | CA410636597 | SLC25A1 | c.664A>G (p.Ile222Val) c.355A>G (p.Ile119Val) n.806A>G c.685A>G (p.Ile229Val) n.715A>G n.588A>G | |
22 | g.19176661T>G | CA410636598 | SLC25A1 | c.664A>C (p.Ile222Leu) c.355A>C (p.Ile119Leu) n.806A>C c.685A>C (p.Ile229Leu) n.715A>C n.588A>C | |
22 | g.19176664_19176672del | CA751416560 | SLC25A1 | c.656_664del (p.Asn219_Leu221del) c.347_355del (p.Asn116_Leu118del) n.798_806del c.677_685del (p.Asn226_Leu228del) n.707_715del n.580_588del | dbSNP |
22 | g.19176662C>A | CA513188415 | SLC25A1 | c.663G>T (p.Leu221=) c.354G>T (p.Leu118=) n.805G>T c.684G>T (p.Leu228=) n.714G>T n.587G>T | |
22 | g.19176662C= | CA2395758323 | SLC25A1 | c.663G= (p.Leu221=) c.354G= (p.Leu118=) n.805G= c.684G= (p.Leu228=) n.714G= n.587G= | |
22 | g.19176662C>G | CA513188416 | SLC25A1 | c.663G>C (p.Leu221=) c.354G>C (p.Leu118=) n.805G>C c.684G>C (p.Leu228=) n.714G>C n.587G>C | |
22 | g.19176662C>T | CA321344320 | SLC25A1 | c.663G>A (p.Leu221=) c.354G>A (p.Leu118=) n.805G>A c.684G>A (p.Leu228=) n.714G>A n.587G>A | dbSNP |
22 | g.19176663A>C | CA410636613 | SLC25A1 | c.662T>G (p.Leu221Arg) c.353T>G (p.Leu118Arg) n.804T>G c.683T>G (p.Leu228Arg) n.713T>G n.586T>G | |
22 | g.19176663A>G | CA410636614 | SLC25A1 | c.662T>C (p.Leu221Pro) c.353T>C (p.Leu118Pro) n.804T>C c.683T>C (p.Leu228Pro) n.713T>C n.586T>C | |
22 | g.19176663A>T | CA410636615 | SLC25A1 | c.662T>A (p.Leu221Gln) c.353T>A (p.Leu118Gln) n.804T>A c.683T>A (p.Leu228Gln) n.713T>A n.586T>A | |
22 | g.19176664G>A | CA513188417 | SLC25A1 | c.661C>T (p.Leu221=) c.352C>T (p.Leu118=) n.803C>T c.682C>T (p.Leu228=) n.712C>T n.585C>T | ClinVar |
22 | g.19176664G>C | CA410636617 | SLC25A1 | c.661C>G (p.Leu221Val) c.352C>G (p.Leu118Val) n.803C>G c.682C>G (p.Leu228Val) n.712C>G n.585C>G | |
22 | g.19176664G>T | CA410636620 | SLC25A1 | c.661C>A (p.Leu221Met) c.352C>A (p.Leu118Met) n.803C>A c.682C>A (p.Leu228Met) n.712C>A n.585C>A | |
22 | g.19176665A= | CA2395758324 | SLC25A1 | c.660T= (p.Pro220=) c.351T= (p.Pro117=) n.802T= c.681T= (p.Pro227=) n.711T= n.584T= | |
22 | g.19176665A>C | CA513188418 | SLC25A1 | c.660T>G (p.Pro220=) c.351T>G (p.Pro117=) n.802T>G c.681T>G (p.Pro227=) n.711T>G n.584T>G | |
22 | g.19176665A>G | CA513188419 | SLC25A1 | c.660T>C (p.Pro220=) c.351T>C (p.Pro117=) n.802T>C c.681T>C (p.Pro227=) n.711T>C n.584T>C | dbSNP |
22 | g.19176665A>T | CA513188421 | SLC25A1 | c.660T>A (p.Pro220=) c.351T>A (p.Pro117=) n.802T>A c.681T>A (p.Pro227=) n.711T>A n.584T>A | |
22 | g.19176666G>A | CA410636624 | SLC25A1 | c.659C>T (p.Pro220Leu) c.350C>T (p.Pro117Leu) n.801C>T c.680C>T (p.Pro227Leu) n.710C>T n.583C>T | gnomAD v4 |
22 | g.19176666G>C | CA410636630 | SLC25A1 | c.659C>G (p.Pro220Arg) c.350C>G (p.Pro117Arg) n.801C>G c.680C>G (p.Pro227Arg) n.710C>G n.583C>G | |
22 | g.19176666G>T | CA410636633 | SLC25A1 | c.659C>A (p.Pro220His) c.350C>A (p.Pro117His) n.801C>A c.680C>A (p.Pro227His) n.710C>A n.583C>A | |
22 | g.19176668dup | CA2841727426 | SLC25A1 | c.659dup (p.Leu221SerfsTer25) c.350dup (p.Leu118SerfsTer25) n.801dup c.680dup (p.Leu228SerfsTer25) n.710dup n.583dup | |
22 | g.19176667G>A | CA410636637 | SLC25A1 | c.658C>T (p.Pro220Ser) c.349C>T (p.Pro117Ser) n.804C>T n.800C>T c.679C>T (p.Pro227Ser) n.709C>T n.582C>T | gnomAD v4 |
22 | g.19176667G>C | CA410636638 | SLC25A1 | c.658C>G (p.Pro220Ala) c.349C>G (p.Pro117Ala) n.804C>G n.800C>G c.679C>G (p.Pro227Ala) n.709C>G n.582C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176667G= | CA2395758325 | SLC25A1 | c.658C= (p.Pro220=) c.349C= (p.Pro117=) n.804C= n.800C= c.679C= (p.Pro227=) n.709C= n.582C= | |
22 | g.19176667G>T | CA410636641 | SLC25A1 | c.658C>A (p.Pro220Thr) c.349C>A (p.Pro117Thr) n.804C>A n.800C>A c.679C>A (p.Pro227Thr) n.709C>A n.582C>A | |
22 | g.19176668G>A | CA513188424 | SLC25A1 | c.657C>T (p.Asn219=) c.348C>T (p.Asn116=) n.803C>T n.799C>T c.678C>T (p.Asn226=) n.708C>T n.581C>T | ClinVar dbSNP gnomAD v4 |
22 | g.19176668G>C | CA410636643 | SLC25A1 | c.657C>G (p.Asn219Lys) c.348C>G (p.Asn116Lys) n.803C>G n.799C>G c.678C>G (p.Asn226Lys) n.708C>G n.581C>G | gnomAD v4 |
22 | g.19176668G= | CA2395758326 | SLC25A1 | c.657C= (p.Asn219=) c.348C= (p.Asn116=) n.803C= n.799C= c.678C= (p.Asn226=) n.708C= n.581C= | |
22 | g.19176668G>T | CA410636646 | SLC25A1 | c.657C>A (p.Asn219Lys) c.348C>A (p.Asn116Lys) n.803C>A n.799C>A c.678C>A (p.Asn226Lys) n.708C>A n.581C>A | |
22 | g.19176669T>A | CA410636650 | SLC25A1 | c.656A>T (p.Asn219Ile) c.347A>T (p.Asn116Ile) n.802A>T n.798A>T c.677A>T (p.Asn226Ile) n.707A>T n.580A>T | |
22 | g.19176669T>C | CA410636652 | SLC25A1 | c.656A>G (p.Asn219Ser) c.347A>G (p.Asn116Ser) n.802A>G n.798A>G c.677A>G (p.Asn226Ser) n.707A>G n.580A>G | |
22 | g.19176669T>G | CA410636654 | SLC25A1 | c.656A>C (p.Asn219Thr) c.347A>C (p.Asn116Thr) n.802A>C n.798A>C c.677A>C (p.Asn226Thr) n.707A>C n.580A>C | dbSNP |
22 | g.19176669T= | CA2395758327 | SLC25A1 | c.656A= (p.Asn219=) c.347A= (p.Asn116=) n.802A= n.798A= c.677A= (p.Asn226=) n.707A= n.580A= | |
22 | g.19176670T>A | CA410636658 | SLC25A1 | c.655A>T (p.Asn219Tyr) c.346A>T (p.Asn116Tyr) n.801A>T n.797A>T c.676A>T (p.Asn226Tyr) n.706A>T n.579A>T | |
22 | g.19176670T>C | CA410636660 | SLC25A1 | c.655A>G (p.Asn219Asp) c.346A>G (p.Asn116Asp) n.801A>G n.797A>G c.676A>G (p.Asn226Asp) n.706A>G n.579A>G | gnomAD v4 |
22 | g.19176670T>G | CA410636662 | SLC25A1 | c.655A>C (p.Asn219His) c.346A>C (p.Asn116His) n.801A>C n.797A>C c.676A>C (p.Asn226His) n.706A>C n.579A>C | gnomAD v4 |
22 | g.19176671_19176678del | CA2695230360 | SLC25A1 | c.648_655del (p.Met218SerfsTer25) c.339_346del (p.Met115SerfsTer25) n.794_801del n.790_797del c.669_676del (p.Met225SerfsTer25) n.699_706del n.572_579del | |
22 | g.19176671C>A | CA410636664 | SLC25A1 | c.654G>T (p.Met218Ile) c.345G>T (p.Met115Ile) n.800G>T n.796G>T c.675G>T (p.Met225Ile) n.705G>T n.578G>T | |
22 | g.19176671C= | CA2395758328 | SLC25A1 | c.654G= (p.Met218=) c.345G= (p.Met115=) n.800G= n.796G= c.675G= (p.Met225=) n.705G= n.578G= | |
22 | g.19176671C>G | CA410636666 | SLC25A1 | c.654G>C (p.Met218Ile) c.345G>C (p.Met115Ile) n.800G>C n.796G>C c.675G>C (p.Met225Ile) n.705G>C n.578G>C | |
22 | g.19176671C>T | CA10097342 | SLC25A1 | c.654G>A (p.Met218Ile) c.345G>A (p.Met115Ile) n.800G>A n.796G>A c.675G>A (p.Met225Ile) n.705G>A n.578G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19176672A= | CA2395758329 | SLC25A1 | c.653T= (p.Met218=) c.344T= (p.Met115=) n.799T= n.795T= c.674T= (p.Met225=) n.704T= n.577T= | |
22 | g.19176672A>C | CA410636669 | SLC25A1 | c.653T>G (p.Met218Arg) c.344T>G (p.Met115Arg) n.799T>G n.795T>G c.674T>G (p.Met225Arg) n.704T>G n.577T>G | |
22 | g.19176672A>G | CA10097343 | SLC25A1 | c.653T>C (p.Met218Thr) c.344T>C (p.Met115Thr) n.799T>C n.795T>C c.674T>C (p.Met225Thr) n.704T>C n.577T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176672A>T | CA410636674 | SLC25A1 | c.653T>A (p.Met218Lys) c.344T>A (p.Met115Lys) n.799T>A n.795T>A c.674T>A (p.Met225Lys) n.704T>A n.577T>A | |
22 | g.19176673T>A | CA410636681 | SLC25A1 | c.652A>T (p.Met218Leu) c.343A>T (p.Met115Leu) n.798A>T n.794A>T c.673A>T (p.Met225Leu) n.703A>T n.576A>T | |
22 | g.19176673T>C | CA10097344 | SLC25A1 | c.652A>G (p.Met218Val) c.343A>G (p.Met115Val) n.798A>G n.794A>G c.673A>G (p.Met225Val) n.703A>G n.576A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176673T>G | CA410636678 | SLC25A1 | c.652A>C (p.Met218Leu) c.343A>C (p.Met115Leu) n.798A>C n.794A>C c.673A>C (p.Met225Leu) n.703A>C n.576A>C | |
22 | g.19176673T= | CA2395758330 | SLC25A1 | c.652A= (p.Met218=) c.343A= (p.Met115=) n.798A= n.794A= c.673A= (p.Met225=) n.703A= n.576A= | |
22 | g.19176674G>A | CA513188427 | SLC25A1 | c.651C>T (p.Pro217=) c.342C>T (p.Pro114=) n.797C>T n.793C>T c.672C>T (p.Pro224=) n.702C>T n.575C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19176674G>C | CA513188428 | SLC25A1 | c.651C>G (p.Pro217=) c.342C>G (p.Pro114=) n.797C>G n.793C>G c.672C>G (p.Pro224=) n.702C>G n.575C>G | |
22 | g.19176674G= | CA2395758331 | SLC25A1 | c.651C= (p.Pro217=) c.342C= (p.Pro114=) n.797C= n.793C= c.672C= (p.Pro224=) n.702C= n.575C= | |
22 | g.19176674G>T | CA513188430 | SLC25A1 | c.651C>A (p.Pro217=) c.342C>A (p.Pro114=) n.797C>A n.793C>A c.672C>A (p.Pro224=) n.702C>A n.575C>A | |
22 | g.19176675G>A | CA410636691 | SLC25A1 | c.650C>T (p.Pro217Leu) c.341C>T (p.Pro114Leu) n.796C>T n.792C>T c.671C>T (p.Pro224Leu) n.701C>T n.574C>T | |
22 | g.19176675G>C | CA410636696 | SLC25A1 | c.650C>G (p.Pro217Arg) c.341C>G (p.Pro114Arg) n.796C>G n.792C>G c.671C>G (p.Pro224Arg) n.701C>G n.574C>G | |
22 | g.19176675G>T | CA410636697 | SLC25A1 | c.650C>A (p.Pro217His) c.341C>A (p.Pro114His) n.796C>A n.792C>A c.671C>A (p.Pro224His) n.701C>A n.574C>A | |
22 | g.19176676G>A | CA10097345 | SLC25A1 | c.649C>T (p.Pro217Ser) c.340C>T (p.Pro114Ser) n.795C>T n.791C>T c.670C>T (p.Pro224Ser) n.700C>T n.573C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19176676G>C | CA410636700 | SLC25A1 | c.649C>G (p.Pro217Ala) c.340C>G (p.Pro114Ala) n.795C>G n.791C>G c.670C>G (p.Pro224Ala) n.700C>G n.573C>G | |
22 | g.19176676G= | CA2395758332 | SLC25A1 | c.649C= (p.Pro217=) c.340C= (p.Pro114=) n.795C= n.791C= c.670C= (p.Pro224=) n.700C= n.573C= | |
22 | g.19176676G>T | CA410636701 | SLC25A1 | c.649C>A (p.Pro217Thr) c.340C>A (p.Pro114Thr) n.795C>A n.791C>A c.670C>A (p.Pro224Thr) n.700C>A n.573C>A | |
22 | g.19176677C>A | CA410636702 | SLC25A1 | c.648G>T (p.Lys216Asn) c.339G>T (p.Lys113Asn) n.794G>T n.790G>T c.669G>T (p.Lys223Asn) n.699G>T n.572G>T | |
22 | g.19176677C>G | CA410636703 | SLC25A1 | c.648G>C (p.Lys216Asn) c.339G>C (p.Lys113Asn) n.794G>C n.790G>C c.669G>C (p.Lys223Asn) n.699G>C n.572G>C | |
22 | g.19176677C>T | CA513188432 | SLC25A1 | c.648G>A (p.Lys216=) c.339G>A (p.Lys113=) n.794G>A n.790G>A c.669G>A (p.Lys223=) n.699G>A n.572G>A | gnomAD v4 |
22 | g.19176678T>A | CA410636705 | SLC25A1 | c.647A>T (p.Lys216Met) c.338A>T (p.Lys113Met) n.793A>T n.789A>T c.668A>T (p.Lys223Met) n.698A>T n.571A>T | |
22 | g.19176678T>C | CA410636707 | SLC25A1 | c.647A>G (p.Lys216Arg) c.338A>G (p.Lys113Arg) n.793A>G n.789A>G c.668A>G (p.Lys223Arg) n.698A>G n.571A>G | |
22 | g.19176678T>G | CA410636709 | SLC25A1 | c.647A>C (p.Lys216Thr) c.338A>C (p.Lys113Thr) n.793A>C n.789A>C c.668A>C (p.Lys223Thr) n.698A>C n.571A>C | |
22 | g.19176679T>A | CA410636712 | SLC25A1 | c.646A>T (p.Lys216Ter) c.337A>T (p.Lys113Ter) n.792A>T n.788A>T c.667A>T (p.Lys223Ter) n.697A>T n.570A>T | |
22 | g.19176679T>C | CA410636714 | SLC25A1 | c.646A>G (p.Lys216Glu) c.337A>G (p.Lys113Glu) n.792A>G n.788A>G c.667A>G (p.Lys223Glu) n.697A>G n.570A>G | |
22 | g.19176679T>G | CA410636716 | SLC25A1 | c.646A>C (p.Lys216Gln) c.337A>C (p.Lys113Gln) n.792A>C n.788A>C c.667A>C (p.Lys223Gln) n.697A>C n.570A>C | COSMIC |
22 | g.19176680G>A | CA513188436 | SLC25A1 | c.645C>T (p.Asn215=) c.336C>T (p.Asn112=) n.791C>T n.787C>T c.666C>T (p.Asn222=) n.696C>T n.569C>T | |
22 | g.19176680G>C | CA410636723 | SLC25A1 | c.645C>G (p.Asn215Lys) c.336C>G (p.Asn112Lys) n.791C>G n.787C>G c.666C>G (p.Asn222Lys) n.696C>G n.569C>G | |
22 | g.19176680G>T | CA410636721 | SLC25A1 | c.645C>A (p.Asn215Lys) c.336C>A (p.Asn112Lys) n.791C>A n.787C>A c.666C>A (p.Asn222Lys) n.696C>A n.569C>A | |
22 | g.19176681T>A | CA410636727 | SLC25A1 | c.644A>T (p.Asn215Ile) c.335A>T (p.Asn112Ile) n.790A>T n.786A>T c.665A>T (p.Asn222Ile) n.695A>T n.568A>T | |
22 | g.19176681T>C | CA410636730 | SLC25A1 | c.644A>G (p.Asn215Ser) c.335A>G (p.Asn112Ser) n.790A>G n.786A>G c.665A>G (p.Asn222Ser) n.695A>G n.568A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19176681T>G | CA410636729 | SLC25A1 | c.644A>C (p.Asn215Thr) c.335A>C (p.Asn112Thr) n.790A>C n.786A>C c.665A>C (p.Asn222Thr) n.695A>C n.568A>C | |
22 | g.19176681T= | CA2395758333 | SLC25A1 | c.644A= (p.Asn215=) c.335A= (p.Asn112=) n.790A= n.786A= c.665A= (p.Asn222=) n.695A= n.568A= | |
22 | g.19176682T>A | CA410636731 | SLC25A1 | c.643A>T (p.Asn215Tyr) c.334A>T (p.Asn112Tyr) n.789A>T n.785A>T c.664A>T (p.Asn222Tyr) n.694A>T n.567A>T | gnomAD v4 |
22 | g.19176682T>C | CA10097346 | SLC25A1 | c.643A>G (p.Asn215Asp) c.334A>G (p.Asn112Asp) n.789A>G n.785A>G c.664A>G (p.Asn222Asp) n.694A>G n.567A>G | dbSNP ExAC gnomAD v2 |
22 | g.19176682T>G | CA410636732 | SLC25A1 | c.643A>C (p.Asn215His) c.334A>C (p.Asn112His) n.789A>C n.785A>C c.664A>C (p.Asn222His) n.694A>C n.567A>C | dbSNP |
22 | g.19176682T= | CA2395758334 | SLC25A1 | c.643A= (p.Asn215=) c.334A= (p.Asn112=) n.789A= n.785A= c.664A= (p.Asn222=) n.694A= n.567A= | |
22 | g.19176682_19176691delinsTGGGGTTGTC | CA2395758335 | SLC25A1 | c.634_643delinsGACAACCCCA (p.Asp212=) c.325_334delinsGACAACCCCA (p.Asp109=) n.780_789delinsGACAACCCCA n.776_785delinsGACAACCCCA c.655_664delinsGACAACCCCA (p.Asp219=) n.685_694delinsGACAACCCCA n.558_567delinsGACAACCCCA | |
22 | g.19176683G>A | CA513188438 | SLC25A1 | c.642C>T (p.Pro214=) c.333C>T (p.Pro111=) n.788C>T n.784C>T c.663C>T (p.Pro221=) n.693C>T n.566C>T | |
22 | g.19176683G>C | CA513188441 | SLC25A1 | c.642C>G (p.Pro214=) c.333C>G (p.Pro111=) n.788C>G n.784C>G c.663C>G (p.Pro221=) n.693C>G n.566C>G | |
22 | g.19176683G>T | CA513188442 | SLC25A1 | c.642C>A (p.Pro214=) c.333C>A (p.Pro111=) n.788C>A n.784C>A c.663C>A (p.Pro221=) n.693C>A n.566C>A | |
22 | g.19176683_19176691del | CA2395758336 | SLC25A1 | c.634_642del (p.Asp212_Pro214del) c.325_333del (p.Asp109_Pro111del) n.780_788del n.776_784del c.655_663del (p.Asp219_Pro221del) n.685_693del n.558_566del | dbSNP |