Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.131583717A>GCA570508597ARG1,MED23c.803-25A>G (p.=)
n.605-85A>G (p.=)
c.749-25A>G (p.=)
c.*690-25A>G (p.=)
c.548-25A>G (p.=)
c.4095+3992T>C (p.=)
c.827-25A>G (p.=)
c.4077+3992T>C (p.=)
n.787-25A>G
gnomAD
6g.131583719A>GCA3999379ARG1,MED23c.803-23A>G (p.=)
n.605-83A>G (p.=)
c.749-23A>G (p.=)
c.*690-23A>G (p.=)
c.548-23A>G (p.=)
c.4095+3990T>C (p.=)
c.827-23A>G (p.=)
c.4077+3990T>C (p.=)
n.787-23A>G
dbSNP ExAC gnomAD
6g.131583719A>TCA570508598ARG1,MED23c.803-23A>T (p.=)
n.605-83A>T (p.=)
c.749-23A>T (p.=)
c.*690-23A>T (p.=)
c.548-23A>T (p.=)
c.4095+3990T>A (p.=)
c.827-23A>T (p.=)
c.4077+3990T>A (p.=)
n.787-23A>T
gnomAD
6g.131583726C>TCA1094531413ARG1,MED23c.803-16C>T (p.=)
n.605-76C>T (p.=)
c.749-16C>T (p.=)
c.*690-16C>T (p.=)
c.548-16C>T (p.=)
c.4095+3983G>A (p.=)
c.827-16C>T (p.=)
c.4077+3983G>A (p.=)
n.787-16C>T
6g.131583733T>CCA819015925ARG1,MED23c.803-9T>C (p.=)
n.605-69T>C (p.=)
c.749-9T>C (p.=)
c.*690-9T>C (p.=)
c.548-9T>C (p.=)
c.4095+3976A>G (p.=)
c.827-9T>C (p.=)
c.4077+3976A>G (p.=)
n.787-9T>C
6g.131583734T>CCA3999380ARG1,MED23c.803-8T>C (p.=)
n.605-68T>C (p.=)
c.749-8T>C (p.=)
c.*690-8T>C (p.=)
c.548-8T>C (p.=)
c.4095+3975A>G (p.=)
c.827-8T>C (p.=)
c.4077+3975A>G (p.=)
n.787-8T>C
ClinVar dbSNP ExAC gnomAD
6g.131583736T>CCA3999381ARG1,MED23c.803-6T>C (p.=)
n.605-66T>C (p.=)
c.749-6T>C (p.=)
c.*690-6T>C (p.=)
c.548-6T>C (p.=)
c.4095+3973A>G (p.=)
c.827-6T>C (p.=)
c.4077+3973A>G (p.=)
n.787-6T>C
dbSNP ExAC gnomAD
6g.131583740A>CCA365653379ARG1,MED23c.803-2A>C (p.=)
n.605-62A>C (p.=)
c.749-2A>C (p.=)
c.*690-2A>C (p.=)
c.548-2A>C (p.=)
c.4095+3969T>G (p.=)
c.827-2A>C (p.=)
c.4077+3969T>G (p.=)
n.787-2A>C
6g.131583740A>GCA365653375ARG1,MED23c.803-2A>G (p.=)
n.605-62A>G (p.=)
c.749-2A>G (p.=)
c.*690-2A>G (p.=)
c.548-2A>G (p.=)
c.4095+3969T>C (p.=)
c.827-2A>G (p.=)
c.4077+3969T>C (p.=)
n.787-2A>G
6g.131583740A>TCA3999382ARG1,MED23c.803-2A>T (p.=)
n.605-62A>T (p.=)
c.749-2A>T (p.=)
c.*690-2A>T (p.=)
c.548-2A>T (p.=)
c.4095+3969T>A (p.=)
c.827-2A>T (p.=)
c.4077+3969T>A (p.=)
n.787-2A>T
dbSNP ExAC
6g.131583741G>ACA365653384ARG1,MED23c.803-1G>A (p.=)
n.605-61G>A (p.=)
c.749-1G>A (p.=)
c.*690-1G>A (p.=)
c.548-1G>A (p.=)
c.4095+3968C>T (p.=)
c.827-1G>A (p.=)
c.4077+3968C>T (p.=)
n.787-1G>A
6g.131583741G>CCA365653381ARG1,MED23c.803-1G>C (p.=)
n.605-61G>C (p.=)
c.749-1G>C (p.=)
c.*690-1G>C (p.=)
c.548-1G>C (p.=)
c.4095+3968C>G (p.=)
c.827-1G>C (p.=)
c.4077+3968C>G (p.=)
n.787-1G>C
6g.131583741G>TCA365653386ARG1,MED23c.803-1G>T (p.=)
n.605-61G>T (p.=)
c.749-1G>T (p.=)
c.*690-1G>T (p.=)
c.548-1G>T (p.=)
c.4095+3968C>A (p.=)
c.827-1G>T (p.=)
c.4077+3968C>A (p.=)
n.787-1G>T
6g.131583742G>ACA365653387ARG1,MED23c.803G>A (p.Gly268Glu)
n.605-60G>A (p.=)
c.749G>A (p.Gly250Glu)
c.*690G>A (p.=)
c.548G>A (p.Gly183Glu)
c.4095+3967C>T (p.=)
c.827G>A (p.Gly276Glu)
c.4077+3967C>T (p.=)
n.787G>A
6g.131583742G>CCA365653389ARG1,MED23c.803G>C (p.Gly268Ala)
n.605-60G>C (p.=)
c.749G>C (p.Gly250Ala)
c.*690G>C (p.=)
c.548G>C (p.Gly183Ala)
c.4095+3967C>G (p.=)
c.827G>C (p.Gly276Ala)
c.4077+3967C>G (p.=)
n.787G>C
6g.131583742G>TCA365653390ARG1,MED23c.803G>T (p.Gly268Val)
n.605-60G>T (p.=)
c.749G>T (p.Gly250Val)
c.*690G>T (p.=)
c.548G>T (p.Gly183Val)
c.4095+3967C>A (p.=)
c.827G>T (p.Gly276Val)
c.4077+3967C>A (p.=)
n.787G>T
6g.131583743G>ACA3999383ARG1,MED23c.804G>A (p.Gly268=)
n.605-59G>A (p.=)
c.750G>A (p.Gly250=)
c.*691G>A (p.=)
c.549G>A (p.Gly183=)
c.4095+3966C>T (p.=)
c.828G>A (p.Gly276=)
c.4077+3966C>T (p.=)
n.788G>A
dbSNP ExAC gnomAD
6g.131583743G>CCA452153269ARG1,MED23c.804G>C (p.Gly268=)
n.605-59G>C (p.=)
c.750G>C (p.Gly250=)
c.*691G>C (p.=)
c.549G>C (p.Gly183=)
c.4095+3966C>G (p.=)
c.828G>C (p.Gly276=)
c.4077+3966C>G (p.=)
n.788G>C
ClinVar
6g.131583743G>TCA452153270ARG1,MED23c.804G>T (p.Gly268=)
n.605-59G>T (p.=)
c.750G>T (p.Gly250=)
c.*691G>T (p.=)
c.549G>T (p.Gly183=)
c.4095+3966C>A (p.=)
c.828G>T (p.Gly276=)
c.4077+3966C>A (p.=)
n.788G>T
6g.131583744C>ACA365653393ARG1,MED23c.805C>A (p.Leu269Ile)
n.605-58C>A (p.=)
c.751C>A (p.Leu251Ile)
c.*692C>A (p.=)
c.550C>A (p.Leu184Ile)
c.4095+3965G>T (p.=)
c.829C>A (p.Leu277Ile)
c.4077+3965G>T (p.=)
n.789C>A
6g.131583744C>GCA365653395ARG1,MED23c.805C>G (p.Leu269Val)
n.605-58C>G (p.=)
c.751C>G (p.Leu251Val)
c.*692C>G (p.=)
c.550C>G (p.Leu184Val)
c.4095+3965G>C (p.=)
c.829C>G (p.Leu277Val)
c.4077+3965G>C (p.=)
n.789C>G
6g.131583744C>TCA452153271ARG1,MED23c.805C>T (p.Leu269=)
n.605-58C>T (p.=)
c.751C>T (p.Leu251=)
c.*692C>T (p.=)
c.550C>T (p.Leu184=)
c.4095+3965G>A (p.=)
c.829C>T (p.Leu277=)
c.4077+3965G>A (p.=)
n.789C>T
6g.131583746_131583750delCA570508599ARG1,MED23c.807_811del (p.Leu270ArgfsTer?)
n.605-56_605-52del (p.=)
c.753_757del (p.Leu252ArgfsTer?)
c.*694_*698del (p.=)
c.552_556del (p.Leu185ArgfsTer?)
c.4095+3961_4095+3965del (p.=)
c.831_835del (p.Leu278ArgfsTer?)
c.4077+3961_4077+3965del (p.=)
n.791_795del
dbSNP gnomAD
6g.131583745T>ACA365653397ARG1,MED23c.806T>A (p.Leu269Gln)
n.605-57T>A (p.=)
c.752T>A (p.Leu251Gln)
c.*693T>A (p.=)
c.551T>A (p.Leu184Gln)
c.4095+3964A>T (p.=)
c.830T>A (p.Leu277Gln)
c.4077+3964A>T (p.=)
n.790T>A
6g.131583745T>CCA365653402ARG1,MED23c.806T>C (p.Leu269Pro)
n.605-57T>C (p.=)
c.752T>C (p.Leu251Pro)
c.*693T>C (p.=)
c.551T>C (p.Leu184Pro)
c.4095+3964A>G (p.=)
c.830T>C (p.Leu277Pro)
c.4077+3964A>G (p.=)
n.790T>C
6g.131583745T>GCA365653404ARG1,MED23c.806T>G (p.Leu269Arg)
n.605-57T>G (p.=)
c.752T>G (p.Leu251Arg)
c.*693T>G (p.=)
c.551T>G (p.Leu184Arg)
c.4095+3964A>C (p.=)
c.830T>G (p.Leu277Arg)
c.4077+3964A>C (p.=)
n.790T>G
6g.131583746A>CCA452153272ARG1,MED23c.807A>C (p.Leu269=)
n.605-56A>C (p.=)
c.753A>C (p.Leu251=)
c.*694A>C (p.=)
c.552A>C (p.Leu184=)
c.4095+3963T>G (p.=)
c.831A>C (p.Leu277=)
c.4077+3963T>G (p.=)
n.791A>C
6g.131583746A>GCA452153273ARG1,MED23c.807A>G (p.Leu269=)
n.605-56A>G (p.=)
c.753A>G (p.Leu251=)
c.*694A>G (p.=)
c.552A>G (p.Leu184=)
c.4095+3963T>C (p.=)
c.831A>G (p.Leu277=)
c.4077+3963T>C (p.=)
n.791A>G
6g.131583746A>TCA452153274ARG1,MED23c.807A>T (p.Leu269=)
n.605-56A>T (p.=)
c.753A>T (p.Leu251=)
c.*694A>T (p.=)
c.552A>T (p.Leu184=)
c.4095+3963T>A (p.=)
c.831A>T (p.Leu277=)
c.4077+3963T>A (p.=)
n.791A>T
6g.131583747C>ACA365653406ARG1,MED23c.808C>A (p.Leu270Ile)
n.605-55C>A (p.=)
c.754C>A (p.Leu252Ile)
c.*695C>A (p.=)
c.553C>A (p.Leu185Ile)
c.4095+3962G>T (p.=)
c.832C>A (p.Leu278Ile)
c.4077+3962G>T (p.=)
n.792C>A
6g.131583747C>GCA365653408ARG1,MED23c.808C>G (p.Leu270Val)
n.605-55C>G (p.=)
c.754C>G (p.Leu252Val)
c.*695C>G (p.=)
c.553C>G (p.Leu185Val)
c.4095+3962G>C (p.=)
c.832C>G (p.Leu278Val)
c.4077+3962G>C (p.=)
n.792C>G
6g.131583747C>TCA365653409ARG1,MED23c.808C>T (p.Leu270Phe)
n.605-55C>T (p.=)
c.754C>T (p.Leu252Phe)
c.*695C>T (p.=)
c.553C>T (p.Leu185Phe)
c.4095+3962G>A (p.=)
c.832C>T (p.Leu278Phe)
c.4077+3962G>A (p.=)
n.792C>T
6g.131583750_131583751delCA915943665ARG1,MED23c.811_812del (p.Ser271ArgfsTer?)
n.605-52_605-51del (p.=)
c.757_758del (p.Ser253ArgfsTer?)
c.*698_*699del (p.=)
c.556_557del (p.Ser186ArgfsTer?)
c.4095+3961_4095+3962del (p.=)
c.835_836del (p.Ser279ArgfsTer?)
c.4077+3961_4077+3962del (p.=)
n.795_796del
ClinVar dbSNP
6g.131583748T>ACA365653415ARG1,MED23c.809T>A (p.Leu270His)
n.605-54T>A (p.=)
c.755T>A (p.Leu252His)
c.*696T>A (p.=)
c.554T>A (p.Leu185His)
c.4095+3961A>T (p.=)
c.833T>A (p.Leu278His)
c.4077+3961A>T (p.=)
n.793T>A
6g.131583748T>CCA365653412ARG1,MED23c.809T>C (p.Leu270Pro)
n.605-54T>C (p.=)
c.755T>C (p.Leu252Pro)
c.*696T>C (p.=)
c.554T>C (p.Leu185Pro)
c.4095+3961A>G (p.=)
c.833T>C (p.Leu278Pro)
c.4077+3961A>G (p.=)
n.793T>C
6g.131583748T>GCA365653413ARG1,MED23c.809T>G (p.Leu270Arg)
n.605-54T>G (p.=)
c.755T>G (p.Leu252Arg)
c.*696T>G (p.=)
c.554T>G (p.Leu185Arg)
c.4095+3961A>C (p.=)
c.833T>G (p.Leu278Arg)
c.4077+3961A>C (p.=)
n.793T>G
6g.131583749C>ACA452153275ARG1,MED23c.810C>A (p.Leu270=)
n.605-53C>A (p.=)
c.756C>A (p.Leu252=)
c.*697C>A (p.=)
c.555C>A (p.Leu185=)
c.4095+3960G>T (p.=)
c.834C>A (p.Leu278=)
c.4077+3960G>T (p.=)
n.794C>A
6g.131583749C>GCA452153276ARG1,MED23c.810C>G (p.Leu270=)
n.605-53C>G (p.=)
c.756C>G (p.Leu252=)
c.*697C>G (p.=)
c.555C>G (p.Leu185=)
c.4095+3960G>C (p.=)
c.834C>G (p.Leu278=)
c.4077+3960G>C (p.=)
n.794C>G
6g.131583749C>TCA452153277ARG1,MED23c.810C>T (p.Leu270=)
n.605-53C>T (p.=)
c.756C>T (p.Leu252=)
c.*697C>T (p.=)
c.555C>T (p.Leu185=)
c.4095+3960G>A (p.=)
c.834C>T (p.Leu278=)
c.4077+3960G>A (p.=)
n.794C>T
6g.131583750T>ACA365653416ARG1,MED23c.811T>A (p.Ser271Thr)
n.605-52T>A (p.=)
c.757T>A (p.Ser253Thr)
c.*698T>A (p.=)
c.556T>A (p.Ser186Thr)
c.4095+3959A>T (p.=)
c.835T>A (p.Ser279Thr)
c.4077+3959A>T (p.=)
n.795T>A
6g.131583750T>CCA365653419ARG1,MED23c.811T>C (p.Ser271Pro)
n.605-52T>C (p.=)
c.757T>C (p.Ser253Pro)
c.*698T>C (p.=)
c.556T>C (p.Ser186Pro)
c.4095+3959A>G (p.=)
c.835T>C (p.Ser279Pro)
c.4077+3959A>G (p.=)
n.795T>C
6g.131583750T>GCA365653421ARG1,MED23c.811T>G (p.Ser271Ala)
n.605-52T>G (p.=)
c.757T>G (p.Ser253Ala)
c.*698T>G (p.=)
c.556T>G (p.Ser186Ala)
c.4095+3959A>C (p.=)
c.835T>G (p.Ser279Ala)
c.4077+3959A>C (p.=)
n.795T>G
6g.131583751C>ACA365653423ARG1,MED23c.812C>A (p.Ser271Ter)
n.605-51C>A (p.=)
c.758C>A (p.Ser253Ter)
c.*699C>A (p.=)
c.557C>A (p.Ser186Ter)
c.4095+3958G>T (p.=)
c.836C>A (p.Ser279Ter)
c.4077+3958G>T (p.=)
n.796C>A
6g.131583751C>GCA365653425ARG1,MED23c.812C>G (p.Ser271Ter)
n.605-51C>G (p.=)
c.758C>G (p.Ser253Ter)
c.*699C>G (p.=)
c.557C>G (p.Ser186Ter)
c.4095+3958G>C (p.=)
c.836C>G (p.Ser279Ter)
c.4077+3958G>C (p.=)
n.796C>G
6g.131583751C>TCA365653427ARG1,MED23c.812C>T (p.Ser271Leu)
n.605-51C>T (p.=)
c.758C>T (p.Ser253Leu)
c.*699C>T (p.=)
c.557C>T (p.Ser186Leu)
c.4095+3958G>A (p.=)
c.836C>T (p.Ser279Leu)
c.4077+3958G>A (p.=)
n.796C>T
6g.131583752A>CCA452153278ARG1,MED23c.813A>C (p.Ser271=)
n.605-50A>C (p.=)
c.759A>C (p.Ser253=)
c.*700A>C (p.=)
c.558A>C (p.Ser186=)
c.4095+3957T>G (p.=)
c.837A>C (p.Ser279=)
c.4077+3957T>G (p.=)
n.797A>C
6g.131583752A>GCA452153279ARG1,MED23c.813A>G (p.Ser271=)
n.605-50A>G (p.=)
c.759A>G (p.Ser253=)
c.*700A>G (p.=)
c.558A>G (p.Ser186=)
c.4095+3957T>C (p.=)
c.837A>G (p.Ser279=)
c.4077+3957T>C (p.=)
n.797A>G
6g.131583752A>TCA452153280ARG1,MED23c.813A>T (p.Ser271=)
n.605-50A>T (p.=)
c.759A>T (p.Ser253=)
c.*700A>T (p.=)
c.558A>T (p.Ser186=)
c.4095+3957T>A (p.=)
c.837A>T (p.Ser279=)
c.4077+3957T>A (p.=)
n.797A>T
6g.131583753G>ACA365653429ARG1,MED23c.814G>A (p.Gly272Arg)
n.605-49G>A (p.=)
c.760G>A (p.Gly254Arg)
c.*701G>A (p.=)
c.559G>A (p.Gly187Arg)
c.4095+3956C>T (p.=)
c.838G>A (p.Gly280Arg)
c.4077+3956C>T (p.=)
n.798G>A
COSMIC
6g.131583753G>CCA365653431ARG1,MED23c.814G>C (p.Gly272Arg)
n.605-49G>C (p.=)
c.760G>C (p.Gly254Arg)
c.*701G>C (p.=)
c.559G>C (p.Gly187Arg)
c.4095+3956C>G (p.=)
c.838G>C (p.Gly280Arg)
c.4077+3956C>G (p.=)
n.798G>C

Number of alleles fetched