Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19176497_19176579delCA2655261439SLC25A1c.747+2_748del
c.438+2_439del
n.889+2_890del
c.768+2_769del
n.798+2_799del
n.671+2_672del
gnomAD v4
22g.19176572delCA2577643005SLC25A1c.747+9del (n.747+9del)
c.438+9del (n.438+9del)
n.889+9del
c.768+9del (n.768+9del)
n.798+9del
n.671+9del
22g.19176573A=CA2395758218SLC25A1c.747+5T= (n.747+5T=)
c.438+5T= (n.438+5T=)
n.889+5T=
c.768+5T= (n.768+5T=)
n.798+5T=
n.671+5T=
22g.19176573A>CCA2655261458SLC25A1c.747+5T>G (n.747+5T>G)
c.438+5T>G (n.438+5T>G)
n.889+5T>G
c.768+5T>G (n.768+5T>G)
n.798+5T>G
n.671+5T>G
gnomAD v4
22g.19176573A>GCA638503320SLC25A1c.747+5T>C (n.747+5T>C)
c.438+5T>C (n.438+5T>C)
n.889+5T>C
c.768+5T>C (n.768+5T>C)
n.798+5T>C
n.671+5T>C
dbSNP gnomAD v2 gnomAD v4
22g.19176574C>ACA2655261459SLC25A1c.747+4G>T (n.747+4G>T)
c.438+4G>T (n.438+4G>T)
n.889+4G>T
c.768+4G>T (n.768+4G>T)
n.798+4G>T
n.671+4G>T
gnomAD v4
22g.19176574C=CA2395758219SLC25A1c.747+4G= (n.747+4G=)
c.438+4G= (n.438+4G=)
n.889+4G=
c.768+4G= (n.768+4G=)
n.798+4G=
n.671+4G=
22g.19176574C>TCA638503321SLC25A1c.747+4G>A (n.747+4G>A)
c.438+4G>A (n.438+4G>A)
n.889+4G>A
c.768+4G>A (n.768+4G>A)
n.798+4G>A
n.671+4G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.19176575C>TCA2547656405SLC25A1c.747+3G>A (n.747+3G>A)
c.438+3G>A (n.438+3G>A)
n.889+3G>A
c.768+3G>A (n.768+3G>A)
n.798+3G>A
n.671+3G>A
22g.19176576A=CA2395758222SLC25A1c.747+2T= (n.747+2T=)
c.438+2T= (n.438+2T=)
n.889+2T=
c.768+2T= (n.768+2T=)
n.798+2T=
n.671+2T=
22g.19176576A>CCA410635786SLC25A1c.747+2T>G (n.747+2T>G)
c.438+2T>G (n.438+2T>G)
n.889+2T>G
c.768+2T>G (n.768+2T>G)
n.798+2T>G
n.671+2T>G
22g.19176576A>GCA410635790SLC25A1c.747+2T>C (n.747+2T>C)
c.438+2T>C (n.438+2T>C)
n.889+2T>C
c.768+2T>C (n.768+2T>C)
n.798+2T>C
n.671+2T>C
22g.19176576A>TCA410635800SLC25A1c.747+2T>A (n.747+2T>A)
c.438+2T>A (n.438+2T>A)
n.889+2T>A
c.768+2T>A (n.768+2T>A)
n.798+2T>A
n.671+2T>A
dbSNP gnomAD v4
22g.19176577C>ACA410635806SLC25A1c.747+1G>T (n.747+1G>T)
c.438+1G>T (n.438+1G>T)
n.889+1G>T
c.768+1G>T (n.768+1G>T)
n.798+1G>T
n.671+1G>T
22g.19176577C=CA2395758223SLC25A1c.747+1G= (n.747+1G=)
c.438+1G= (n.438+1G=)
n.889+1G=
c.768+1G= (n.768+1G=)
n.798+1G=
n.671+1G=
22g.19176577C>GCA10097327SLC25A1c.747+1G>C (n.747+1G>C)
c.438+1G>C (n.438+1G>C)
n.889+1G>C
c.768+1G>C (n.768+1G>C)
n.798+1G>C
n.671+1G>C
dbSNP ExAC
22g.19176577C>TCA410635812SLC25A1c.747+1G>A (n.747+1G>A)
c.438+1G>A (n.438+1G>A)
n.889+1G>A
c.768+1G>A (n.768+1G>A)
n.798+1G>A
n.671+1G>A
22g.19176578C>ACA410635816SLC25A1c.747G>T (p.Gln249His)
c.438G>T (p.Gln146His)
n.889G>T
c.768G>T (p.Gln256His)
n.798G>T
n.671G>T
22g.19176578C>GCA410635818SLC25A1c.747G>C (p.Gln249His)
c.438G>C (p.Gln146His)
n.889G>C
c.768G>C (p.Gln256His)
n.798G>C
n.671G>C
22g.19176578C>TCA513188334SLC25A1c.747G>A (p.Gln249=)
c.438G>A (p.Gln146=)
n.889G>A
c.768G>A (p.Gln256=)
n.798G>A
n.671G>A
22g.19176579T>ACA410635821SLC25A1c.746A>T (p.Gln249Leu)
c.437A>T (p.Gln146Leu)
n.888A>T
c.767A>T (p.Gln256Leu)
n.797A>T
n.670A>T
gnomAD v4
22g.19176579T>CCA410635823SLC25A1c.746A>G (p.Gln249Arg)
c.437A>G (p.Gln146Arg)
n.888A>G
c.767A>G (p.Gln256Arg)
n.797A>G
n.670A>G
dbSNP
22g.19176579T>GCA410635824SLC25A1c.746A>C (p.Gln249Pro)
c.437A>C (p.Gln146Pro)
n.888A>C
c.767A>C (p.Gln256Pro)
n.797A>C
n.670A>C
22g.19176580G>ACA410635837SLC25A1c.745C>T (p.Gln249Ter)
c.436C>T (p.Gln146Ter)
n.887C>T
c.766C>T (p.Gln256Ter)
n.796C>T
n.669C>T
22g.19176580G>CCA410635835SLC25A1c.745C>G (p.Gln249Glu)
c.436C>G (p.Gln146Glu)
n.887C>G
c.766C>G (p.Gln256Glu)
n.796C>G
n.669C>G
22g.19176580G>TCA410635836SLC25A1c.745C>A (p.Gln249Lys)
c.436C>A (p.Gln146Lys)
n.887C>A
c.766C>A (p.Gln256Lys)
n.796C>A
n.669C>A
22g.19176580_19176583delinsGCATCA2395758226SLC25A1c.742_745delinsATGC (p.Met248=)
c.433_436delinsATGC (p.Met145=)
n.884_887delinsATGC
c.763_766delinsATGC (p.Met255=)
n.793_796delinsATGC
n.666_669delinsATGC
22g.19176581C>ACA410635841SLC25A1c.744G>T (p.Met248Ile)
c.435G>T (p.Met145Ile)
n.886G>T
c.765G>T (p.Met255Ile)
n.795G>T
n.668G>T
22g.19176581C=CA2395758232SLC25A1c.744G= (p.Met248=)
c.435G= (p.Met145=)
n.886G=
c.765G= (p.Met255=)
n.795G=
n.668G=
22g.19176581C>GCA410635851SLC25A1c.744G>C (p.Met248Ile)
c.435G>C (p.Met145Ile)
n.886G>C
c.765G>C (p.Met255Ile)
n.795G>C
n.668G>C
22g.19176581C>TCA410635854SLC25A1c.744G>A (p.Met248Ile)
c.435G>A (p.Met145Ile)
n.886G>A
c.765G>A (p.Met255Ile)
n.795G>A
n.668G>A
dbSNP
22g.19176582_19176584delCA2395758230SLC25A1c.742_744del (p.Met248del)
c.433_435del (p.Met145del)
n.884_886del
c.763_765del (p.Met255del)
n.793_795del
n.666_668del
dbSNP
22g.19176582A>CCA410635862SLC25A1c.743T>G (p.Met248Arg)
c.434T>G (p.Met145Arg)
n.885T>G
c.764T>G (p.Met255Arg)
n.794T>G
n.667T>G
22g.19176582A>GCA410635863SLC25A1c.743T>C (p.Met248Thr)
c.434T>C (p.Met145Thr)
n.885T>C
c.764T>C (p.Met255Thr)
n.794T>C
n.667T>C
22g.19176582A>TCA410635865SLC25A1c.743T>A (p.Met248Lys)
c.434T>A (p.Met145Lys)
n.885T>A
c.764T>A (p.Met255Lys)
n.794T>A
n.667T>A
22g.19176583T>ACA410635869SLC25A1c.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
22g.19176583T>CCA410635877SLC25A1c.742A>G (p.Met248Val)
c.433A>G (p.Met145Val)
n.884A>G
c.763A>G (p.Met255Val)
n.793A>G
n.666A>G
22g.19176583T>GCA410635882SLC25A1c.742A>C (p.Met248Leu)
c.433A>C (p.Met145Leu)
n.884A>C
c.763A>C (p.Met255Leu)
n.793A>C
n.666A>C
22g.19176584C>ACA513188335SLC25A1c.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
22g.19176584C>GCA513188336SLC25A1c.741G>C (p.Arg247=)
c.432G>C (p.Arg144=)
n.883G>C
c.762G>C (p.Arg254=)
n.792G>C
n.665G>C
22g.19176584C>TCA513188337SLC25A1c.741G>A (p.Arg247=)
c.432G>A (p.Arg144=)
n.883G>A
c.762G>A (p.Arg254=)
n.792G>A
n.665G>A
22g.19176585C>ACA410635887SLC25A1c.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
22g.19176585C=CA2395758239SLC25A1c.740G= (p.Arg247=)
c.431G= (p.Arg144=)
n.882G=
c.761G= (p.Arg254=)
n.791G=
n.664G=
22g.19176585C>GCA410635891SLC25A1c.740G>C (p.Arg247Pro)
c.431G>C (p.Arg144Pro)
n.882G>C
c.761G>C (p.Arg254Pro)
n.791G>C
n.664G>C
22g.19176585C>TCA10097328SLC25A1c.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
22g.19176586G>ACA10097329SLC25A1c.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
22g.19176586G>CCA410635894SLC25A1c.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
22g.19176586G=CA2395758246SLC25A1c.739C= (p.Arg247=)
c.430C= (p.Arg144=)
n.881C=
c.760C= (p.Arg254=)
n.790C=
n.663C=
22g.19176586G>TCA513188338SLC25A1c.739C>A (p.Arg247=)
c.430C>A (p.Arg144=)
n.881C>A
c.760C>A (p.Arg254=)
n.790C>A
n.663C>A
dbSNP
22g.19176587G>ACA513188339SLC25A1c.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
22g.19176587G>CCA10097330SLC25A1c.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
22g.19176587G=CA2395758249SLC25A1c.738C= (p.Thr246=)
c.429C= (p.Thr143=)
n.880C=
c.759C= (p.Thr253=)
n.789C=
n.662C=
22g.19176587G>TCA513188340SLC25A1c.738C>A (p.Thr246=)
c.429C>A (p.Thr143=)
n.880C>A
c.759C>A (p.Thr253=)
n.789C>A
n.662C>A
22g.19176588G>ACA410635913SLC25A1c.737C>T (p.Thr246Ile)
c.428C>T (p.Thr143Ile)
n.879C>T
c.758C>T (p.Thr253Ile)
n.788C>T
n.661C>T
22g.19176588G>CCA410635914SLC25A1c.737C>G (p.Thr246Ser)
c.428C>G (p.Thr143Ser)
n.879C>G
c.758C>G (p.Thr253Ser)
n.788C>G
n.661C>G
22g.19176588G=CA2395758254SLC25A1c.737C= (p.Thr246=)
c.428C= (p.Thr143=)
n.879C=
c.758C= (p.Thr253=)
n.788C=
n.661C=
22g.19176588G>TCA410635916SLC25A1c.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
22g.19176589T>ACA410635924SLC25A1c.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
22g.19176589T>CCA410635925SLC25A1c.736A>G (p.Thr246Ala)
c.427A>G (p.Thr143Ala)
n.878A>G
c.757A>G (p.Thr253Ala)
n.787A>G
n.660A>G
22g.19176589T>GCA410635926SLC25A1c.736A>C (p.Thr246Pro)
c.427A>C (p.Thr143Pro)
n.878A>C
c.757A>C (p.Thr253Pro)
n.787A>C
n.660A>C
22g.19176589T=CA2395758257SLC25A1c.736A= (p.Thr246=)
c.427A= (p.Thr143=)
n.878A=
c.757A= (p.Thr253=)
n.787A=
n.660A=
22g.19176590C>ACA410635928SLC25A1c.735G>T (p.Lys245Asn)
c.426G>T (p.Lys142Asn)
n.877G>T
c.756G>T (p.Lys252Asn)
n.786G>T
n.659G>T
22g.19176590C=CA2395758260SLC25A1c.735G= (p.Lys245=)
c.426G= (p.Lys142=)
n.877G=
c.756G= (p.Lys252=)
n.786G=
n.659G=
22g.19176590C>GCA410635929SLC25A1c.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
22g.19176590C>TCA513188341SLC25A1c.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
22g.19176591T>ACA410635936SLC25A1c.734A>T (p.Lys245Met)
c.425A>T (p.Lys142Met)
n.876A>T
c.755A>T (p.Lys252Met)
n.785A>T
n.658A>T
22g.19176591T>CCA410635940SLC25A1c.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
22g.19176591T>GCA410635942SLC25A1c.734A>C (p.Lys245Thr)
c.425A>C (p.Lys142Thr)
n.876A>C
c.755A>C (p.Lys252Thr)
n.785A>C
n.658A>C
22g.19176592T>ACA410635954SLC25A1c.733A>T (p.Lys245Ter)
c.424A>T (p.Lys142Ter)
n.875A>T
c.754A>T (p.Lys252Ter)
n.784A>T
n.657A>T
22g.19176592T>CCA410635953SLC25A1c.733A>G (p.Lys245Glu)
c.424A>G (p.Lys142Glu)
n.875A>G
c.754A>G (p.Lys252Glu)
n.784A>G
n.657A>G
22g.19176592T>GCA410635952SLC25A1c.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
22g.19176593A=CA2395758263SLC25A1c.732T= (p.Ile244=)
c.423T= (p.Ile141=)
n.874T=
c.753T= (p.Ile251=)
n.783T=
n.656T=
22g.19176593A>CCA410635956SLC25A1c.732T>G (p.Ile244Met)
c.423T>G (p.Ile141Met)
n.874T>G
c.753T>G (p.Ile251Met)
n.783T>G
n.656T>G
22g.19176593A>GCA513188346SLC25A1c.732T>C (p.Ile244=)
c.423T>C (p.Ile141=)
n.874T>C
c.753T>C (p.Ile251=)
n.783T>C
n.656T>C
22g.19176593A>TCA513188345SLC25A1c.732T>A (p.Ile244=)
c.423T>A (p.Ile141=)
n.874T>A
c.753T>A (p.Ile251=)
n.783T>A
n.656T>A
22g.19176594dupCA2818380977SLC25A1c.732dup (p.Lys245Ter)
c.423dup (p.Lys142Ter)
n.874dup
c.753dup (p.Lys252Ter)
n.783dup
n.656dup
22g.19176594delCA645608327SLC25A1c.732del (p.Lys245ArgfsTer23)
c.423del (p.Lys142ArgfsTer23)
n.874del
c.753del (p.Lys252ArgfsTer23)
n.783del
n.656del
COSMIC
22g.19176593_19176594insTCA751416421SLC25A1c.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
22g.19176594A>CCA410635959SLC25A1c.731T>G (p.Ile244Ser)
c.422T>G (p.Ile141Ser)
n.873T>G
c.752T>G (p.Ile251Ser)
n.782T>G
n.655T>G
22g.19176594A>GCA410635966SLC25A1c.731T>C (p.Ile244Thr)
c.422T>C (p.Ile141Thr)
n.873T>C
c.752T>C (p.Ile251Thr)
n.782T>C
n.655T>C
22g.19176594A>TCA410635970SLC25A1c.731T>A (p.Ile244Asn)
c.422T>A (p.Ile141Asn)
n.873T>A
c.752T>A (p.Ile251Asn)
n.782T>A
n.655T>A
22g.19176595T>ACA410635973SLC25A1c.730A>T (p.Ile244Phe)
c.421A>T (p.Ile141Phe)
n.872A>T
c.751A>T (p.Ile251Phe)
n.781A>T
n.654A>T
22g.19176595T>CCA410635975SLC25A1c.730A>G (p.Ile244Val)
c.421A>G (p.Ile141Val)
n.872A>G
c.751A>G (p.Ile251Val)
n.781A>G
n.654A>G
22g.19176595T>GCA410635980SLC25A1c.730A>C (p.Ile244Leu)
c.421A>C (p.Ile141Leu)
n.872A>C
c.751A>C (p.Ile251Leu)
n.781A>C
n.654A>C
22g.19176596C>ACA513188348SLC25A1c.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
22g.19176596C>GCA513188350SLC25A1c.729G>C (p.Val243=)
c.420G>C (p.Val140=)
n.871G>C
c.750G>C (p.Val250=)
n.780G>C
n.653G>C
22g.19176596C>TCA513188349SLC25A1c.729G>A (p.Val243=)
c.420G>A (p.Val140=)
n.871G>A
c.750G>A (p.Val250=)
n.780G>A
n.653G>A
22g.19176597A>CCA410635985SLC25A1c.728T>G (p.Val243Gly)
c.419T>G (p.Val140Gly)
n.870T>G
c.749T>G (p.Val250Gly)
n.779T>G
n.652T>G
22g.19176597A>GCA410635992SLC25A1c.728T>C (p.Val243Ala)
c.419T>C (p.Val140Ala)
n.870T>C
c.749T>C (p.Val250Ala)
n.779T>C
n.652T>C
22g.19176597A>TCA410635994SLC25A1c.728T>A (p.Val243Glu)
c.419T>A (p.Val140Glu)
n.870T>A
c.749T>A (p.Val250Glu)
n.779T>A
n.652T>A
22g.19176598C>ACA410635996SLC25A1c.727G>T (p.Val243Leu)
c.418G>T (p.Val140Leu)
n.869G>T
c.748G>T (p.Val250Leu)
n.778G>T
n.651G>T
22g.19176598C=CA2395758269SLC25A1c.727G= (p.Val243=)
c.418G= (p.Val140=)
n.869G=
c.748G= (p.Val250=)
n.778G=
n.651G=
22g.19176598C>GCA410635997SLC25A1c.727G>C (p.Val243Leu)
c.418G>C (p.Val140Leu)
n.869G>C
c.748G>C (p.Val250Leu)
n.778G>C
n.651G>C
22g.19176598C>TCA321344245SLC25A1c.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
22g.19176599A>CCA410636000SLC25A1c.726T>G (p.Asp242Glu)
c.417T>G (p.Asp139Glu)
n.868T>G
c.747T>G (p.Asp249Glu)
n.777T>G
n.650T>G
22g.19176599A>GCA513188351SLC25A1c.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
22g.19176599A>TCA410636004SLC25A1c.726T>A (p.Asp242Glu)
c.417T>A (p.Asp139Glu)
n.868T>A
c.747T>A (p.Asp249Glu)
n.777T>A
n.650T>A
22g.19176600T>ACA410636009SLC25A1c.725A>T (p.Asp242Val)
c.416A>T (p.Asp139Val)
n.867A>T
c.746A>T (p.Asp249Val)
n.776A>T
n.649A>T
22g.19176600T>CCA410636017SLC25A1c.725A>G (p.Asp242Gly)
c.416A>G (p.Asp139Gly)
n.867A>G
c.746A>G (p.Asp249Gly)
n.776A>G
n.649A>G
22g.19176600T>GCA410636016SLC25A1c.725A>C (p.Asp242Ala)
c.416A>C (p.Asp139Ala)
n.867A>C
c.746A>C (p.Asp249Ala)
n.776A>C
n.649A>C
22g.19176601C>ACA410636021SLC25A1c.724G>T (p.Asp242Tyr)
c.415G>T (p.Asp139Tyr)
n.866G>T
c.745G>T (p.Asp249Tyr)
n.775G>T
n.648G>T
22g.19176601C=CA2395758271SLC25A1c.724G= (p.Asp242=)
c.415G= (p.Asp139=)
n.866G=
c.745G= (p.Asp249=)
n.775G=
n.648G=
22g.19176601C>GCA410636032SLC25A1c.724G>C (p.Asp242His)
c.415G>C (p.Asp139His)
n.866G>C
c.745G>C (p.Asp249His)
n.775G>C
n.648G>C
22g.19176601C>TCA410636040SLC25A1c.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
22g.19176602C>ACA513188352SLC25A1c.723G>T (p.Leu241=)
c.414G>T (p.Leu138=)
n.865G>T
c.744G>T (p.Leu248=)
n.774G>T
n.647G>T
22g.19176602C=CA2395758275SLC25A1c.723G= (p.Leu241=)
c.414G= (p.Leu138=)
n.865G=
c.744G= (p.Leu248=)
n.774G=
n.647G=
22g.19176602C>GCA513188353SLC25A1c.723G>C (p.Leu241=)
c.414G>C (p.Leu138=)
n.865G>C
c.744G>C (p.Leu248=)
n.774G>C
n.647G>C
22g.19176602C>TCA513188354SLC25A1c.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
22g.19176603A>CCA410636047SLC25A1c.722T>G (p.Leu241Arg)
c.413T>G (p.Leu138Arg)
n.864T>G
c.743T>G (p.Leu248Arg)
n.773T>G
n.646T>G
22g.19176603A>GCA410636059SLC25A1c.722T>C (p.Leu241Pro)
c.413T>C (p.Leu138Pro)
n.864T>C
c.743T>C (p.Leu248Pro)
n.773T>C
n.646T>C
22g.19176603A>TCA410636062SLC25A1c.722T>A (p.Leu241Gln)
c.413T>A (p.Leu138Gln)
n.864T>A
c.743T>A (p.Leu248Gln)
n.773T>A
n.646T>A
22g.19176604G>ACA513188355SLC25A1c.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
22g.19176604G>CCA410636069SLC25A1c.721C>G (p.Leu241Val)
c.412C>G (p.Leu138Val)
n.863C>G
c.742C>G (p.Leu248Val)
n.772C>G
n.645C>G
22g.19176604G>TCA410636072SLC25A1c.721C>A (p.Leu241Met)
c.412C>A (p.Leu138Met)
n.863C>A
c.742C>A (p.Leu248Met)
n.772C>A
n.645C>A
22g.19176607_19176609delCA2655261460SLC25A1c.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
22g.19176605A>CCA513188356SLC25A1c.720T>G (p.Pro240=)
c.411T>G (p.Pro137=)
n.862T>G
c.741T>G (p.Pro247=)
n.771T>G
n.644T>G
22g.19176605A>GCA513188357SLC25A1c.720T>C (p.Pro240=)
c.411T>C (p.Pro137=)
n.862T>C
c.741T>C (p.Pro247=)
n.771T>C
n.644T>C
22g.19176605A>TCA513188358SLC25A1c.720T>A (p.Pro240=)
c.411T>A (p.Pro137=)
n.862T>A
c.741T>A (p.Pro247=)
n.771T>A
n.644T>A
22g.19176606G>ACA410636080SLC25A1c.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
22g.19176606G>CCA410636084SLC25A1c.719C>G (p.Pro240Arg)
c.410C>G (p.Pro137Arg)
n.861C>G
c.740C>G (p.Pro247Arg)
n.770C>G
n.643C>G
22g.19176606G>TCA410636088SLC25A1c.719C>A (p.Pro240His)
c.410C>A (p.Pro137His)
n.861C>A
c.740C>A (p.Pro247His)
n.770C>A
n.643C>A
22g.19176607G>ACA410636100SLC25A1c.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
22g.19176607G>CCA410636092SLC25A1c.718C>G (p.Pro240Ala)
c.409C>G (p.Pro137Ala)
n.860C>G
c.739C>G (p.Pro247Ala)
n.769C>G
n.642C>G
22g.19176607G=CA2395758278SLC25A1c.718C= (p.Pro240=)
c.409C= (p.Pro137=)
n.860C=
c.739C= (p.Pro247=)
n.769C=
n.642C=
22g.19176607G>TCA410636098SLC25A1c.718C>A (p.Pro240Thr)
c.409C>A (p.Pro137Thr)
n.860C>A
c.739C>A (p.Pro247Thr)
n.769C>A
n.642C>A
22g.19176608A=CA2395758284SLC25A1c.717T= (p.Thr239=)
c.408T= (p.Thr136=)
n.859T=
c.738T= (p.Thr246=)
n.768T=
n.641T=
22g.19176608A>CCA513188359SLC25A1c.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
22g.19176608A>GCA513188360SLC25A1c.717T>C (p.Thr239=)
c.408T>C (p.Thr136=)
n.859T>C
c.738T>C (p.Thr246=)
n.768T>C
n.641T>C
22g.19176608A>TCA513188361SLC25A1c.717T>A (p.Thr239=)
c.408T>A (p.Thr136=)
n.859T>A
c.738T>A (p.Thr246=)
n.768T>A
n.641T>A
22g.19176609G>ACA410636106SLC25A1c.716C>T (p.Thr239Ile)
c.407C>T (p.Thr136Ile)
n.858C>T
c.737C>T (p.Thr246Ile)
n.767C>T
n.640C>T
22g.19176609G>CCA410636109SLC25A1c.716C>G (p.Thr239Ser)
c.407C>G (p.Thr136Ser)
n.858C>G
c.737C>G (p.Thr246Ser)
n.767C>G
n.640C>G
dbSNP
22g.19176609G=CA2395758286SLC25A1c.716C= (p.Thr239=)
c.407C= (p.Thr136=)
n.858C=
c.737C= (p.Thr246=)
n.767C=
n.640C=
22g.19176609G>TCA410636111SLC25A1c.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
22g.19176610T>ACA410636112SLC25A1c.715A>T (p.Thr239Ser)
c.406A>T (p.Thr136Ser)
n.857A>T
c.736A>T (p.Thr246Ser)
n.766A>T
n.639A>T
COSMIC
22g.19176610T>CCA410636113SLC25A1c.715A>G (p.Thr239Ala)
c.406A>G (p.Thr136Ala)
n.857A>G
c.736A>G (p.Thr246Ala)
n.766A>G
n.639A>G
22g.19176610T>GCA410636116SLC25A1c.715A>C (p.Thr239Pro)
c.406A>C (p.Thr136Pro)
n.857A>C
c.736A>C (p.Thr246Pro)
n.766A>C
n.639A>C
22g.19176611G>ACA513188362SLC25A1c.714C>T (p.Asn238=)
c.405C>T (p.Asn135=)
n.856C>T
c.735C>T (p.Asn245=)
n.765C>T
n.638C>T
22g.19176611G>CCA410636121SLC25A1c.714C>G (p.Asn238Lys)
c.405C>G (p.Asn135Lys)
n.856C>G
c.735C>G (p.Asn245Lys)
n.765C>G
n.638C>G
22g.19176611G>TCA410636123SLC25A1c.714C>A (p.Asn238Lys)
c.405C>A (p.Asn135Lys)
n.856C>A
c.735C>A (p.Asn245Lys)
n.765C>A
n.638C>A
COSMIC
22g.19176612T>ACA410636127SLC25A1c.713A>T (p.Asn238Ile)
c.404A>T (p.Asn135Ile)
n.855A>T
c.734A>T (p.Asn245Ile)
n.764A>T
n.637A>T
22g.19176612T>CCA410636131SLC25A1c.713A>G (p.Asn238Ser)
c.404A>G (p.Asn135Ser)
n.855A>G
c.734A>G (p.Asn245Ser)
n.764A>G
n.637A>G
ClinVar
22g.19176612T>GCA410636136SLC25A1c.713A>C (p.Asn238Thr)
c.404A>C (p.Asn135Thr)
n.855A>C
c.734A>C (p.Asn245Thr)
n.764A>C
n.637A>C
22g.19176613T>ACA410636143SLC25A1c.712A>T (p.Asn238Tyr)
c.403A>T (p.Asn135Tyr)
n.854A>T
c.733A>T (p.Asn245Tyr)
n.763A>T
n.636A>T
22g.19176613T>CCA410636147SLC25A1c.712A>G (p.Asn238Asp)
c.403A>G (p.Asn135Asp)
n.854A>G
c.733A>G (p.Asn245Asp)
n.763A>G
n.636A>G
22g.19176613T>GCA410636140SLC25A1c.712A>C (p.Asn238His)
c.403A>C (p.Asn135His)
n.854A>C
c.733A>C (p.Asn245His)
n.763A>C
n.636A>C
22g.19176614T>ACA10097331SLC25A1c.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
22g.19176614T>CCA513188363SLC25A1c.711A>G (p.Gly237=)
c.402A>G (p.Gly134=)
n.853A>G
c.732A>G (p.Gly244=)
n.762A>G
n.635A>G
22g.19176614T>GCA513188364SLC25A1c.711A>C (p.Gly237=)
c.402A>C (p.Gly134=)
n.853A>C
c.732A>C (p.Gly244=)
n.762A>C
n.635A>C
22g.19176614T=CA2395758290SLC25A1c.711A= (p.Gly237=)
c.402A= (p.Gly134=)
n.853A=
c.732A= (p.Gly244=)
n.762A=
n.635A=
22g.19176615C>ACA410636153SLC25A1c.710G>T (p.Gly237Val)
c.401G>T (p.Gly134Val)
n.852G>T
c.731G>T (p.Gly244Val)
n.761G>T
n.634G>T
22g.19176615C=CA2395758295SLC25A1c.710G= (p.Gly237=)
c.401G= (p.Gly134=)
n.852G=
c.731G= (p.Gly244=)
n.761G=
n.634G=
22g.19176615C>GCA410636154SLC25A1c.710G>C (p.Gly237Ala)
c.401G>C (p.Gly134Ala)
n.852G>C
c.731G>C (p.Gly244Ala)
n.761G>C
n.634G>C
dbSNP
22g.19176615C>TCA410636157SLC25A1c.710G>A (p.Gly237Glu)
c.401G>A (p.Gly134Glu)
n.852G>A
c.731G>A (p.Gly244Glu)
n.761G>A
n.634G>A
22g.19176616C>ACA410636161SLC25A1c.709G>T (p.Gly237Ter)
c.400G>T (p.Gly134Ter)
n.851G>T
c.730G>T (p.Gly244Ter)
n.760G>T
n.633G>T
22g.19176616C>GCA410636164SLC25A1c.709G>C (p.Gly237Arg)
c.400G>C (p.Gly134Arg)
n.851G>C
c.730G>C (p.Gly244Arg)
n.760G>C
n.633G>C
22g.19176616C>TCA410636174SLC25A1c.709G>A (p.Gly237Arg)
c.400G>A (p.Gly134Arg)
n.851G>A
c.730G>A (p.Gly244Arg)
n.760G>A
n.633G>A
COSMIC
22g.19176617A=CA2395758298SLC25A1c.708T= (p.Phe236=)
c.399T= (p.Phe133=)
n.850T=
c.729T= (p.Phe243=)
n.759T=
n.632T=
22g.19176617A>CCA410636181SLC25A1c.708T>G (p.Phe236Leu)
c.399T>G (p.Phe133Leu)
n.850T>G
c.729T>G (p.Phe243Leu)
n.759T>G
n.632T>G
22g.19176617A>GCA513188366SLC25A1c.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
22g.19176617A>TCA410636183SLC25A1c.708T>A (p.Phe236Leu)
c.399T>A (p.Phe133Leu)
n.850T>A
c.729T>A (p.Phe243Leu)
n.759T>A
n.632T>A
22g.19176618A>CCA410636187SLC25A1c.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
22g.19176618A>GCA410636190SLC25A1c.707T>C (p.Phe236Ser)
c.398T>C (p.Phe133Ser)
n.849T>C
c.728T>C (p.Phe243Ser)
n.758T>C
n.631T>C
22g.19176618A>TCA410636191SLC25A1c.707T>A (p.Phe236Tyr)
c.398T>A (p.Phe133Tyr)
n.849T>A
c.728T>A (p.Phe243Tyr)
n.758T>A
n.631T>A
22g.19176619A>CCA410636198SLC25A1c.706T>G (p.Phe236Val)
c.397T>G (p.Phe133Val)
n.848T>G
c.727T>G (p.Phe243Val)
n.757T>G
n.630T>G
22g.19176619A>GCA410636202SLC25A1c.706T>C (p.Phe236Leu)
c.397T>C (p.Phe133Leu)
n.848T>C
c.727T>C (p.Phe243Leu)
n.757T>C
n.630T>C
22g.19176619A>TCA410636194SLC25A1c.706T>A (p.Phe236Ile)
c.397T>A (p.Phe133Ile)
n.848T>A
c.727T>A (p.Phe243Ile)
n.757T>A
n.630T>A
22g.19176620G>ACA10097332SLC25A1c.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
22g.19176620G>CCA10097333SLC25A1c.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
22g.19176620G=CA2395758303SLC25A1c.705C= (p.Val235=)
c.396C= (p.Val132=)
n.847C=
c.726C= (p.Val242=)
n.756C=
n.629C=
22g.19176620G>TCA513188367SLC25A1c.705C>A (p.Val235=)
c.396C>A (p.Val132=)
n.847C>A
c.726C>A (p.Val242=)
n.756C>A
n.629C>A
22g.19176621A>CCA410636215SLC25A1c.704T>G (p.Val235Gly)
c.395T>G (p.Val132Gly)
n.846T>G
c.725T>G (p.Val242Gly)
n.755T>G
n.628T>G
22g.19176621A>GCA410636216SLC25A1c.704T>C (p.Val235Ala)
c.395T>C (p.Val132Ala)
n.846T>C
c.725T>C (p.Val242Ala)
n.755T>C
n.628T>C
22g.19176621A>TCA410636217SLC25A1c.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
22g.19176622C>ACA410636233SLC25A1c.703G>T (p.Val235Phe)
c.394G>T (p.Val132Phe)
n.845G>T
c.724G>T (p.Val242Phe)
n.754G>T
n.627G>T
22g.19176622C>GCA410636221SLC25A1c.703G>C (p.Val235Leu)
c.394G>C (p.Val132Leu)
n.845G>C
c.724G>C (p.Val242Leu)
n.754G>C
n.627G>C
22g.19176622C>TCA410636229SLC25A1c.703G>A (p.Val235Ile)
c.394G>A (p.Val132Ile)
n.845G>A
c.724G>A (p.Val242Ile)
n.754G>A
n.627G>A
22g.19176623A=CA2395758304SLC25A1c.702T= (p.Ser234=)
c.393T= (p.Ser131=)
n.844T=
c.723T= (p.Ser241=)
n.753T=
n.626T=
22g.19176623A>CCA410636236SLC25A1c.702T>G (p.Ser234Arg)
c.393T>G (p.Ser131Arg)
n.844T>G
c.723T>G (p.Ser241Arg)
n.753T>G
n.626T>G
22g.19176623A>GCA513188368SLC25A1c.702T>C (p.Ser234=)
c.393T>C (p.Ser131=)
n.844T>C
c.723T>C (p.Ser241=)
n.753T>C
n.626T>C
22g.19176623A>TCA410636237SLC25A1c.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
22g.19176624C>ACA410636241SLC25A1c.701G>T (p.Ser234Ile)
c.392G>T (p.Ser131Ile)
n.843G>T
c.722G>T (p.Ser241Ile)
n.752G>T
n.625G>T
22g.19176624C>GCA410636244SLC25A1c.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
22g.19176624C>TCA410636252SLC25A1c.701G>A (p.Ser234Asn)
c.392G>A (p.Ser131Asn)
n.843G>A
c.722G>A (p.Ser241Asn)
n.752G>A
n.625G>A
22g.19176625T>ACA410636259SLC25A1c.700A>T (p.Ser234Cys)
c.391A>T (p.Ser131Cys)
n.842A>T
c.721A>T (p.Ser241Cys)
n.751A>T
n.624A>T
22g.19176625T>CCA410636254SLC25A1c.700A>G (p.Ser234Gly)
c.391A>G (p.Ser131Gly)
n.842A>G
c.721A>G (p.Ser241Gly)
n.751A>G
n.624A>G
22g.19176625T>GCA410636253SLC25A1c.700A>C (p.Ser234Arg)
c.391A>C (p.Ser131Arg)
n.842A>C
c.721A>C (p.Ser241Arg)
n.751A>C
n.624A>C
22g.19176626G>ACA513188372SLC25A1c.699C>T (p.Ala233=)
c.390C>T (p.Ala130=)
n.841C>T
c.720C>T (p.Ala240=)
n.750C>T
n.623C>T
22g.19176626G>CCA513188373SLC25A1c.699C>G (p.Ala233=)
c.390C>G (p.Ala130=)
n.841C>G
c.720C>G (p.Ala240=)
n.750C>G
n.623C>G
22g.19176626G=CA2395758305SLC25A1c.699C= (p.Ala233=)
c.390C= (p.Ala130=)
n.841C=
c.720C= (p.Ala240=)
n.750C=
n.623C=
22g.19176626G>TCA513188374SLC25A1c.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
22g.19176627G>ACA410636263SLC25A1c.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
22g.19176627G>CCA410636269SLC25A1c.698C>G (p.Ala233Gly)
c.389C>G (p.Ala130Gly)
n.840C>G
c.719C>G (p.Ala240Gly)
n.749C>G
n.622C>G
22g.19176627G=CA2395758306SLC25A1c.698C= (p.Ala233=)
c.389C= (p.Ala130=)
n.840C=
c.719C= (p.Ala240=)
n.749C=
n.622C=
22g.19176627G>TCA410636267SLC25A1c.698C>A (p.Ala233Asp)
c.389C>A (p.Ala130Asp)
n.840C>A
c.719C>A (p.Ala240Asp)
n.749C>A
n.622C>A
22g.19176628C>ACA410636273SLC25A1c.697G>T (p.Ala233Ser)
c.388G>T (p.Ala130Ser)
n.839G>T
c.718G>T (p.Ala240Ser)
n.748G>T
n.621G>T
22g.19176628C=CA2395758307SLC25A1c.697G= (p.Ala233=)
c.388G= (p.Ala130=)
n.839G=
c.718G= (p.Ala240=)
n.748G=
n.621G=
22g.19176628C>GCA410636280SLC25A1c.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
22g.19176628C>TCA216411SLC25A1c.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
22g.19176629T>ACA513188376SLC25A1c.696A>T (p.Ala232=)
c.387A>T (p.Ala129=)
n.838A>T
c.717A>T (p.Ala239=)
n.747A>T
n.620A>T
22g.19176629T>CCA513188379SLC25A1c.696A>G (p.Ala232=)
c.387A>G (p.Ala129=)
n.838A>G
c.717A>G (p.Ala239=)
n.747A>G
n.620A>G
22g.19176629T>GCA513188378SLC25A1c.696A>C (p.Ala232=)
c.387A>C (p.Ala129=)
n.838A>C
c.717A>C (p.Ala239=)
n.747A>C
n.620A>C
22g.19176630G>ACA410636284SLC25A1c.695C>T (p.Ala232Val)
c.386C>T (p.Ala129Val)
n.837C>T
c.716C>T (p.Ala239Val)
n.746C>T
n.619C>T
dbSNP
22g.19176630G>CCA410636299SLC25A1c.695C>G (p.Ala232Gly)
c.386C>G (p.Ala129Gly)
n.837C>G
c.716C>G (p.Ala239Gly)
n.746C>G
n.619C>G
22g.19176630G=CA2395758308SLC25A1c.695C= (p.Ala232=)
c.386C= (p.Ala129=)
n.837C=
c.716C= (p.Ala239=)
n.746C=
n.619C=
22g.19176630G>TCA410636295SLC25A1c.695C>A (p.Ala232Glu)
c.386C>A (p.Ala129Glu)
n.837C>A
c.716C>A (p.Ala239Glu)
n.746C>A
n.619C>A
22g.19176631C>ACA410636303SLC25A1c.694G>T (p.Ala232Ser)
c.385G>T (p.Ala129Ser)
n.836G>T
c.715G>T (p.Ala239Ser)
n.745G>T
n.618G>T
22g.19176631C=CA2395758309SLC25A1c.694G= (p.Ala232=)
c.385G= (p.Ala129=)
n.836G=
c.715G= (p.Ala239=)
n.745G=
n.618G=
22g.19176631C>GCA410636305SLC25A1c.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
22g.19176631C>TCA10097334SLC25A1c.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
22g.19176632G>ACA10097335SLC25A1c.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
22g.19176632G>CCA513188380SLC25A1c.693C>G (p.Gly231=)
c.384C>G (p.Gly128=)
n.835C>G
c.714C>G (p.Gly238=)
n.744C>G
n.617C>G
22g.19176632G=CA2395758310SLC25A1c.693C= (p.Gly231=)
c.384C= (p.Gly128=)
n.835C=
c.714C= (p.Gly238=)
n.744C=
n.617C=
22g.19176632G>TCA513188381SLC25A1c.693C>A (p.Gly231=)
c.384C>A (p.Gly128=)
n.835C>A
c.714C>A (p.Gly238=)
n.744C>A
n.617C>A
22g.19176633C>ACA410636326SLC25A1c.692G>T (p.Gly231Val)
c.383G>T (p.Gly128Val)
n.834G>T
c.713G>T (p.Gly238Val)
n.743G>T
n.616G>T
22g.19176633C>GCA410636330SLC25A1c.692G>C (p.Gly231Ala)
c.383G>C (p.Gly128Ala)
n.834G>C
c.713G>C (p.Gly238Ala)
n.743G>C
n.616G>C
22g.19176633C>TCA410636332SLC25A1c.692G>A (p.Gly231Asp)
c.383G>A (p.Gly128Asp)
n.834G>A
c.713G>A (p.Gly238Asp)
n.743G>A
n.616G>A
22g.19176634C>ACA410636335SLC25A1c.691G>T (p.Gly231Cys)
c.382G>T (p.Gly128Cys)
n.833G>T
c.712G>T (p.Gly238Cys)
n.742G>T
n.615G>T
22g.19176634C=CA2395758311SLC25A1c.691G= (p.Gly231=)
c.382G= (p.Gly128=)
n.833G=
c.712G= (p.Gly238=)
n.742G=
n.615G=
22g.19176634C>GCA410636336SLC25A1c.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
22g.19176634C>TCA410636339SLC25A1c.691G>A (p.Gly231Ser)
c.382G>A (p.Gly128Ser)
n.833G>A
c.712G>A (p.Gly238Ser)
n.742G>A
n.615G>A
22g.19176635T>ACA513188384SLC25A1c.690A>T (p.Ala230=)
c.381A>T (p.Ala127=)
n.832A>T
c.711A>T (p.Ala237=)
n.741A>T
n.614A>T
22g.19176635T>CCA513188385SLC25A1c.690A>G (p.Ala230=)
c.381A>G (p.Ala127=)
n.832A>G
c.711A>G (p.Ala237=)
n.741A>G
n.614A>G
ClinVar
22g.19176635T>GCA513188386SLC25A1c.690A>C (p.Ala230=)
c.381A>C (p.Ala127=)
n.832A>C
c.711A>C (p.Ala237=)
n.741A>C
n.614A>C
22g.19176636G>ACA410636360SLC25A1c.689C>T (p.Ala230Val)
c.380C>T (p.Ala127Val)
n.831C>T
c.710C>T (p.Ala237Val)
n.740C>T
n.613C>T
dbSNP
22g.19176636G>CCA410636356SLC25A1c.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
22g.19176636G=CA2395758312SLC25A1c.689C= (p.Ala230=)
c.380C= (p.Ala127=)
n.831C=
c.710C= (p.Ala237=)
n.740C=
n.613C=
22g.19176636G>TCA410636351SLC25A1c.689C>A (p.Ala230Glu)
c.380C>A (p.Ala127Glu)
n.831C>A
c.710C>A (p.Ala237Glu)
n.740C>A
n.613C>A
22g.19176637C>ACA410636363SLC25A1c.688G>T (p.Ala230Ser)
c.379G>T (p.Ala127Ser)
n.830G>T
c.709G>T (p.Ala237Ser)
n.739G>T
n.612G>T
22g.19176637C>GCA410636366SLC25A1c.688G>C (p.Ala230Pro)
c.379G>C (p.Ala127Pro)
n.830G>C
c.709G>C (p.Ala237Pro)
n.739G>C
n.612G>C
22g.19176637C>TCA410636368SLC25A1c.688G>A (p.Ala230Thr)
c.379G>A (p.Ala127Thr)
n.830G>A
c.709G>A (p.Ala237Thr)
n.739G>A
n.612G>A
22g.19176638A=CA2395758313SLC25A1c.687T= (p.Ile229=)
c.378T= (p.Ile126=)
n.829T=
c.708T= (p.Ile236=)
n.738T=
n.611T=
22g.19176638A>CCA410636370SLC25A1c.687T>G (p.Ile229Met)
c.378T>G (p.Ile126Met)
n.829T>G
c.708T>G (p.Ile236Met)
n.738T>G
n.611T>G
22g.19176638A>GCA10097336SLC25A1c.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
22g.19176638A>TCA513188387SLC25A1c.687T>A (p.Ile229=)
c.378T>A (p.Ile126=)
n.829T>A
c.708T>A (p.Ile236=)
n.738T>A
n.611T>A
22g.19176639A=CA2395758314SLC25A1c.686T= (p.Ile229=)
c.377T= (p.Ile126=)
n.828T=
c.707T= (p.Ile236=)
n.737T=
n.610T=
22g.19176639A>CCA410636374SLC25A1c.686T>G (p.Ile229Ser)
c.377T>G (p.Ile126Ser)
n.828T>G
c.707T>G (p.Ile236Ser)
n.737T>G
n.610T>G
22g.19176639A>GCA10097337SLC25A1c.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
22g.19176639A>TCA410636375SLC25A1c.686T>A (p.Ile229Asn)
c.377T>A (p.Ile126Asn)
n.828T>A
c.707T>A (p.Ile236Asn)
n.737T>A
n.610T>A
ClinVar
22g.19176640T>ACA410636379SLC25A1c.685A>T (p.Ile229Phe)
c.376A>T (p.Ile126Phe)
n.827A>T
c.706A>T (p.Ile236Phe)
n.736A>T
n.609A>T
22g.19176640T>CCA410636389SLC25A1c.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
22g.19176640T>GCA410636395SLC25A1c.685A>C (p.Ile229Leu)
c.376A>C (p.Ile126Leu)
n.827A>C
c.706A>C (p.Ile236Leu)
n.736A>C
n.609A>C
22g.19176641A>CCA513188389SLC25A1c.684T>G (p.Ala228=)
c.375T>G (p.Ala125=)
n.826T>G
c.705T>G (p.Ala235=)
n.735T>G
n.608T>G
22g.19176641A>GCA513188390SLC25A1c.684T>C (p.Ala228=)
c.375T>C (p.Ala125=)
n.826T>C
c.705T>C (p.Ala235=)
n.735T>C
n.608T>C
22g.19176641A>TCA513188391SLC25A1c.684T>A (p.Ala228=)
c.375T>A (p.Ala125=)
n.826T>A
c.705T>A (p.Ala235=)
n.735T>A
n.608T>A
22g.19176642G>ACA410636403SLC25A1c.683C>T (p.Ala228Val)
c.374C>T (p.Ala125Val)
n.825C>T
c.704C>T (p.Ala235Val)
n.734C>T
n.607C>T
22g.19176642G>CCA410636402SLC25A1c.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
22g.19176642G>TCA410636399SLC25A1c.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
22g.19176643C>ACA410636404SLC25A1c.682G>T (p.Ala228Ser)
c.373G>T (p.Ala125Ser)
n.824G>T
c.703G>T (p.Ala235Ser)
n.733G>T
n.606G>T
22g.19176643C>GCA410636406SLC25A1c.682G>C (p.Ala228Pro)
c.373G>C (p.Ala125Pro)
n.824G>C
c.703G>C (p.Ala235Pro)
n.733G>C
n.606G>C
22g.19176643C>TCA410636409SLC25A1c.682G>A (p.Ala228Thr)
c.373G>A (p.Ala125Thr)
n.824G>A
c.703G>A (p.Ala235Thr)
n.733G>A
n.606G>A
22g.19176644T>ACA513188394SLC25A1c.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
22g.19176644T>CCA513188395SLC25A1c.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
22g.19176644T>GCA513188396SLC25A1c.681A>C (p.Gly227=)
c.372A>C (p.Gly124=)
n.823A>C
c.702A>C (p.Gly234=)
n.732A>C
n.605A>C
22g.19176645C>ACA410636414SLC25A1c.680G>T (p.Gly227Val)
c.371G>T (p.Gly124Val)
n.822G>T
c.701G>T (p.Gly234Val)
n.731G>T
n.604G>T
22g.19176645C>GCA410636419SLC25A1c.680G>C (p.Gly227Ala)
c.371G>C (p.Gly124Ala)
n.822G>C
c.701G>C (p.Gly234Ala)
n.731G>C
n.604G>C
22g.19176645C>TCA410636422SLC25A1c.680G>A (p.Gly227Glu)
c.371G>A (p.Gly124Glu)
n.822G>A
c.701G>A (p.Gly234Glu)
n.731G>A
n.604G>A
22g.19176646C>ACA410636427SLC25A1c.679G>T (p.Gly227Ter)
c.370G>T (p.Gly124Ter)
n.821G>T
c.700G>T (p.Gly234Ter)
n.730G>T
n.603G>T
22g.19176646C=CA2395758315SLC25A1c.679G= (p.Gly227=)
c.370G= (p.Gly124=)
n.821G=
c.700G= (p.Gly234=)
n.730G=
n.603G=
22g.19176646C>GCA410636431SLC25A1c.679G>C (p.Gly227Arg)
c.370G>C (p.Gly124Arg)
n.821G>C
c.700G>C (p.Gly234Arg)
n.730G>C
n.603G>C
22g.19176646C>TCA410636437SLC25A1c.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
22g.19176647G>ACA10097338SLC25A1c.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
22g.19176647G>CCA410636441SLC25A1c.678C>G (p.Phe226Leu)
c.369C>G (p.Phe123Leu)
n.820C>G
c.699C>G (p.Phe233Leu)
n.729C>G
n.602C>G
22g.19176647G=CA2395758316SLC25A1c.678C= (p.Phe226=)
c.369C= (p.Phe123=)
n.820C=
c.699C= (p.Phe233=)
n.729C=
n.602C=
22g.19176647G>TCA410636442SLC25A1c.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
22g.19176648A>CCA410636460SLC25A1c.677T>G (p.Phe226Cys)
c.368T>G (p.Phe123Cys)
n.819T>G
c.698T>G (p.Phe233Cys)
n.728T>G
n.601T>G
22g.19176648A>GCA410636449SLC25A1c.677T>C (p.Phe226Ser)
c.368T>C (p.Phe123Ser)
n.819T>C
c.698T>C (p.Phe233Ser)
n.728T>C
n.601T>C
22g.19176648A>TCA410636457SLC25A1c.677T>A (p.Phe226Tyr)
c.368T>A (p.Phe123Tyr)
n.819T>A
c.698T>A (p.Phe233Tyr)
n.728T>A
n.601T>A
22g.19176649A>CCA410636471SLC25A1c.676T>G (p.Phe226Val)
c.367T>G (p.Phe123Val)
n.818T>G
c.697T>G (p.Phe233Val)
n.727T>G
n.600T>G
22g.19176649A>GCA410636472SLC25A1c.676T>C (p.Phe226Leu)
c.367T>C (p.Phe123Leu)
n.818T>C
c.697T>C (p.Phe233Leu)
n.727T>C
n.600T>C
22g.19176649A>TCA410636473SLC25A1c.676T>A (p.Phe226Ile)
c.367T>A (p.Phe123Ile)
n.818T>A
c.697T>A (p.Phe233Ile)
n.727T>A
n.600T>A
22g.19176650G>ACA513188399SLC25A1c.675C>T (p.Val225=)
c.366C>T (p.Val122=)
n.817C>T
c.696C>T (p.Val232=)
n.726C>T
n.599C>T
22g.19176650G>CCA513188400SLC25A1c.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
22g.19176650G>TCA513188401SLC25A1c.675C>A (p.Val225=)
c.366C>A (p.Val122=)
n.817C>A
c.696C>A (p.Val232=)
n.726C>A
n.599C>A
22g.19176651A>CCA410636478SLC25A1c.674T>G (p.Val225Gly)
c.365T>G (p.Val122Gly)
n.816T>G
c.695T>G (p.Val232Gly)
n.725T>G
n.598T>G
22g.19176651A>GCA410636485SLC25A1c.674T>C (p.Val225Ala)
c.365T>C (p.Val122Ala)
n.816T>C
c.695T>C (p.Val232Ala)
n.725T>C
n.598T>C
22g.19176651A>TCA410636488SLC25A1c.674T>A (p.Val225Asp)
c.365T>A (p.Val122Asp)
n.816T>A
c.695T>A (p.Val232Asp)
n.725T>A
n.598T>A
22g.19176652C>ACA410636495SLC25A1c.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
22g.19176652C>GCA410636496SLC25A1c.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
22g.19176652C>TCA410636499SLC25A1c.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
22g.19176653C>ACA513188403SLC25A1c.672G>T (p.Gly224=)
c.363G>T (p.Gly121=)
n.814G>T
c.693G>T (p.Gly231=)
n.723G>T
n.596G>T
22g.19176653C=CA2395758317SLC25A1c.672G= (p.Gly224=)
c.363G= (p.Gly121=)
n.814G=
c.693G= (p.Gly231=)
n.723G=
n.596G=
22g.19176653C>GCA10097339SLC25A1c.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
22g.19176653C>TCA10097340SLC25A1c.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
22g.19176654C>ACA410636528SLC25A1c.671G>T (p.Gly224Val)
c.362G>T (p.Gly121Val)
n.813G>T
c.692G>T (p.Gly231Val)
n.722G>T
n.595G>T
22g.19176654C=CA2395758318SLC25A1c.671G= (p.Gly224=)
c.362G= (p.Gly121=)
n.813G=
c.692G= (p.Gly231=)
n.722G=
n.595G=
22g.19176654C>GCA410636529SLC25A1c.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
22g.19176654C>TCA410636527SLC25A1c.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
22g.19176655C>ACA410636540SLC25A1c.670G>T (p.Gly224Trp)
c.361G>T (p.Gly121Trp)
n.812G>T
c.691G>T (p.Gly231Trp)
n.721G>T
n.594G>T
22g.19176655C>GCA410636533SLC25A1c.670G>C (p.Gly224Arg)
c.361G>C (p.Gly121Arg)
n.812G>C
c.691G>C (p.Gly231Arg)
n.721G>C
n.594G>C
22g.19176655C>TCA410636537SLC25A1c.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
22g.19176656A=CA2395758319SLC25A1c.669T= (p.Thr223=)
c.360T= (p.Thr120=)
n.811T=
c.690T= (p.Thr230=)
n.720T=
n.593T=
22g.19176656A>CCA513188405SLC25A1c.669T>G (p.Thr223=)
c.360T>G (p.Thr120=)
n.811T>G
c.690T>G (p.Thr230=)
n.720T>G
n.593T>G
22g.19176656A>GCA321344303SLC25A1c.669T>C (p.Thr223=)
c.360T>C (p.Thr120=)
n.811T>C
c.690T>C (p.Thr230=)
n.720T>C
n.593T>C
dbSNP
22g.19176656A>TCA513188407SLC25A1c.669T>A (p.Thr223=)
c.360T>A (p.Thr120=)
n.811T>A
c.690T>A (p.Thr230=)
n.720T>A
n.593T>A
22g.19176657G>ACA10097341SLC25A1c.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
22g.19176657G>CCA410636556SLC25A1c.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
22g.19176657G=CA2395758320SLC25A1c.668C= (p.Thr223=)
c.359C= (p.Thr120=)
n.810C=
c.689C= (p.Thr230=)
n.719C=
n.592C=
22g.19176657G>TCA410636561SLC25A1c.668C>A (p.Thr223Asn)
c.359C>A (p.Thr120Asn)
n.810C>A
c.689C>A (p.Thr230Asn)
n.719C>A
n.592C>A
22g.19176658T>ACA410636565SLC25A1c.667A>T (p.Thr223Ser)
c.358A>T (p.Thr120Ser)
n.809A>T
c.688A>T (p.Thr230Ser)
n.718A>T
n.591A>T
22g.19176658T>CCA410636569SLC25A1c.667A>G (p.Thr223Ala)
c.358A>G (p.Thr120Ala)
n.809A>G
c.688A>G (p.Thr230Ala)
n.718A>G
n.591A>G
22g.19176658T>GCA410636577SLC25A1c.667A>C (p.Thr223Pro)
c.358A>C (p.Thr120Pro)
n.809A>C
c.688A>C (p.Thr230Pro)
n.718A>C
n.591A>C
22g.19176659G>ACA513188411SLC25A1c.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
22g.19176659G>CCA410636581SLC25A1c.666C>G (p.Ile222Met)
c.357C>G (p.Ile119Met)
n.808C>G
c.687C>G (p.Ile229Met)
n.717C>G
n.590C>G
22g.19176659G>TCA513188410SLC25A1c.666C>A (p.Ile222=)
c.357C>A (p.Ile119=)
n.808C>A
c.687C>A (p.Ile229=)
n.717C>A
n.590C>A
22g.19176659_19176668delinsGATCAGAGGGCA2395758321SLC25A1c.657_666delinsCCCTCTGATC (p.Asn219=)
c.348_357delinsCCCTCTGATC (p.Asn116=)
n.799_808delinsCCCTCTGATC
c.678_687delinsCCCTCTGATC (p.Asn226=)
n.708_717delinsCCCTCTGATC
n.581_590delinsCCCTCTGATC
22g.19176660A>CCA410636584SLC25A1c.665T>G (p.Ile222Ser)
c.356T>G (p.Ile119Ser)
n.807T>G
c.686T>G (p.Ile229Ser)
n.716T>G
n.589T>G
22g.19176660A>GCA410636588SLC25A1c.665T>C (p.Ile222Thr)
c.356T>C (p.Ile119Thr)
n.807T>C
c.686T>C (p.Ile229Thr)
n.716T>C
n.589T>C
22g.19176660A>TCA410636595SLC25A1c.665T>A (p.Ile222Asn)
c.356T>A (p.Ile119Asn)
n.807T>A
c.686T>A (p.Ile229Asn)
n.716T>A
n.589T>A
22g.19176660_19176668delinsGAGGTCCA16621035SLC25A1c.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
22g.19176660_19176669delinsATCAGAGGGTCA2395758322SLC25A1c.656_665delinsACCCTCTGAT (p.Asn219=)
c.347_356delinsACCCTCTGAT (p.Asn116=)
n.798_807delinsACCCTCTGAT
c.677_686delinsACCCTCTGAT (p.Asn226=)
n.707_716delinsACCCTCTGAT
n.580_589delinsACCCTCTGAT
22g.19176661T>ACA410636600SLC25A1c.664A>T (p.Ile222Phe)
c.355A>T (p.Ile119Phe)
n.806A>T
c.685A>T (p.Ile229Phe)
n.715A>T
n.588A>T
22g.19176661T>CCA410636597SLC25A1c.664A>G (p.Ile222Val)
c.355A>G (p.Ile119Val)
n.806A>G
c.685A>G (p.Ile229Val)
n.715A>G
n.588A>G
22g.19176661T>GCA410636598SLC25A1c.664A>C (p.Ile222Leu)
c.355A>C (p.Ile119Leu)
n.806A>C
c.685A>C (p.Ile229Leu)
n.715A>C
n.588A>C
22g.19176664_19176672delCA751416560SLC25A1c.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
22g.19176662C>ACA513188415SLC25A1c.663G>T (p.Leu221=)
c.354G>T (p.Leu118=)
n.805G>T
c.684G>T (p.Leu228=)
n.714G>T
n.587G>T
22g.19176662C=CA2395758323SLC25A1c.663G= (p.Leu221=)
c.354G= (p.Leu118=)
n.805G=
c.684G= (p.Leu228=)
n.714G=
n.587G=
22g.19176662C>GCA513188416SLC25A1c.663G>C (p.Leu221=)
c.354G>C (p.Leu118=)
n.805G>C
c.684G>C (p.Leu228=)
n.714G>C
n.587G>C
22g.19176662C>TCA321344320SLC25A1c.663G>A (p.Leu221=)
c.354G>A (p.Leu118=)
n.805G>A
c.684G>A (p.Leu228=)
n.714G>A
n.587G>A
dbSNP
22g.19176663A>CCA410636613SLC25A1c.662T>G (p.Leu221Arg)
c.353T>G (p.Leu118Arg)
n.804T>G
c.683T>G (p.Leu228Arg)
n.713T>G
n.586T>G
22g.19176663A>GCA410636614SLC25A1c.662T>C (p.Leu221Pro)
c.353T>C (p.Leu118Pro)
n.804T>C
c.683T>C (p.Leu228Pro)
n.713T>C
n.586T>C
22g.19176663A>TCA410636615SLC25A1c.662T>A (p.Leu221Gln)
c.353T>A (p.Leu118Gln)
n.804T>A
c.683T>A (p.Leu228Gln)
n.713T>A
n.586T>A
22g.19176664G>ACA513188417SLC25A1c.661C>T (p.Leu221=)
c.352C>T (p.Leu118=)
n.803C>T
c.682C>T (p.Leu228=)
n.712C>T
n.585C>T
ClinVar
22g.19176664G>CCA410636617SLC25A1c.661C>G (p.Leu221Val)
c.352C>G (p.Leu118Val)
n.803C>G
c.682C>G (p.Leu228Val)
n.712C>G
n.585C>G
22g.19176664G>TCA410636620SLC25A1c.661C>A (p.Leu221Met)
c.352C>A (p.Leu118Met)
n.803C>A
c.682C>A (p.Leu228Met)
n.712C>A
n.585C>A
22g.19176665A=CA2395758324SLC25A1c.660T= (p.Pro220=)
c.351T= (p.Pro117=)
n.802T=
c.681T= (p.Pro227=)
n.711T=
n.584T=
22g.19176665A>CCA513188418SLC25A1c.660T>G (p.Pro220=)
c.351T>G (p.Pro117=)
n.802T>G
c.681T>G (p.Pro227=)
n.711T>G
n.584T>G
22g.19176665A>GCA513188419SLC25A1c.660T>C (p.Pro220=)
c.351T>C (p.Pro117=)
n.802T>C
c.681T>C (p.Pro227=)
n.711T>C
n.584T>C
dbSNP
22g.19176665A>TCA513188421SLC25A1c.660T>A (p.Pro220=)
c.351T>A (p.Pro117=)
n.802T>A
c.681T>A (p.Pro227=)
n.711T>A
n.584T>A
22g.19176666G>ACA410636624SLC25A1c.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
22g.19176666G>CCA410636630SLC25A1c.659C>G (p.Pro220Arg)
c.350C>G (p.Pro117Arg)
n.801C>G
c.680C>G (p.Pro227Arg)
n.710C>G
n.583C>G
22g.19176666G>TCA410636633SLC25A1c.659C>A (p.Pro220His)
c.350C>A (p.Pro117His)
n.801C>A
c.680C>A (p.Pro227His)
n.710C>A
n.583C>A
22g.19176667G>ACA410636637SLC25A1c.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
22g.19176667G>CCA410636638SLC25A1c.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
22g.19176667G=CA2395758325SLC25A1c.658C= (p.Pro220=)
c.349C= (p.Pro117=)
n.804C=
n.800C=
c.679C= (p.Pro227=)
n.709C=
n.582C=
22g.19176667G>TCA410636641SLC25A1c.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
22g.19176668G>ACA513188424SLC25A1c.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
22g.19176668G>CCA410636643SLC25A1c.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
22g.19176668G=CA2395758326SLC25A1c.657C= (p.Asn219=)
c.348C= (p.Asn116=)
n.803C=
n.799C=
c.678C= (p.Asn226=)
n.708C=
n.581C=
22g.19176668G>TCA410636646SLC25A1c.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
22g.19176669T>ACA410636650SLC25A1c.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
22g.19176669T>CCA410636652SLC25A1c.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
22g.19176669T>GCA410636654SLC25A1c.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
22g.19176669T=CA2395758327SLC25A1c.656A= (p.Asn219=)
c.347A= (p.Asn116=)
n.802A=
n.798A=
c.677A= (p.Asn226=)
n.707A=
n.580A=
22g.19176670T>ACA410636658SLC25A1c.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
22g.19176670T>CCA410636660SLC25A1c.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
22g.19176670T>GCA410636662SLC25A1c.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
22g.19176671_19176678delCA2695230360SLC25A1c.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
22g.19176671C>ACA410636664SLC25A1c.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
22g.19176671C=CA2395758328SLC25A1c.654G= (p.Met218=)
c.345G= (p.Met115=)
n.800G=
n.796G=
c.675G= (p.Met225=)
n.705G=
n.578G=
22g.19176671C>GCA410636666SLC25A1c.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
22g.19176671C>TCA10097342SLC25A1c.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
22g.19176672A=CA2395758329SLC25A1c.653T= (p.Met218=)
c.344T= (p.Met115=)
n.799T=
n.795T=
c.674T= (p.Met225=)
n.704T=
n.577T=
22g.19176672A>CCA410636669SLC25A1c.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
22g.19176672A>GCA10097343SLC25A1c.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
22g.19176672A>TCA410636674SLC25A1c.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

Number of alleles fetched