Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.131583827A>CCA452153332ARG1,MED23c.888A>C (p.Ala296=)
c.630A>C (p.Ala210=)
c.834A>C (p.Ala278=)
c.*775A>C (n.*775A>C)
c.633A>C (p.Ala211=)
c.4095+3882T>G (n.4095+3882T>G)
c.912A>C (p.Ala304=)
c.4077+3882T>G (n.4077+3882T>G)
n.872A>C
6g.131583827A>GCA452153333ARG1,MED23c.888A>G (p.Ala296=)
c.630A>G (p.Ala210=)
c.834A>G (p.Ala278=)
c.*775A>G (n.*775A>G)
c.633A>G (p.Ala211=)
c.4095+3882T>C (n.4095+3882T>C)
c.912A>G (p.Ala304=)
c.4077+3882T>C (n.4077+3882T>C)
n.872A>G
6g.131583827A>TCA452153334ARG1,MED23c.888A>T (p.Ala296=)
c.630A>T (p.Ala210=)
c.834A>T (p.Ala278=)
c.*775A>T (n.*775A>T)
c.633A>T (p.Ala211=)
c.4095+3882T>A (n.4095+3882T>A)
c.912A>T (p.Ala304=)
c.4077+3882T>A (n.4077+3882T>A)
n.872A>T
6g.131583828G>ACA365653649ARG1,MED23c.889G>A (p.Val297Ile)
c.631G>A (p.Val211Ile)
c.835G>A (p.Val279Ile)
c.*776G>A (n.*776G>A)
c.634G>A (p.Val212Ile)
c.4095+3881C>T (n.4095+3881C>T)
c.913G>A (p.Val305Ile)
c.4077+3881C>T (n.4077+3881C>T)
n.873G>A
6g.131583828G>CCA365653650ARG1,MED23c.889G>C (p.Val297Leu)
c.631G>C (p.Val211Leu)
c.835G>C (p.Val279Leu)
c.*776G>C (n.*776G>C)
c.634G>C (p.Val212Leu)
c.4095+3881C>G (n.4095+3881C>G)
c.913G>C (p.Val305Leu)
c.4077+3881C>G (n.4077+3881C>G)
n.873G>C
6g.131583828G>TCA365653651ARG1,MED23c.889G>T (p.Val297Phe)
c.631G>T (p.Val211Phe)
c.835G>T (p.Val279Phe)
c.*776G>T (n.*776G>T)
c.634G>T (p.Val212Phe)
c.4095+3881C>A (n.4095+3881C>A)
c.913G>T (p.Val305Phe)
c.4077+3881C>A (n.4077+3881C>A)
n.873G>T
6g.131583829T>ACA365653654ARG1,MED23c.890T>A (p.Val297Asp)
c.632T>A (p.Val211Asp)
c.836T>A (p.Val279Asp)
c.*777T>A (n.*777T>A)
c.635T>A (p.Val212Asp)
c.4095+3880A>T (n.4095+3880A>T)
c.914T>A (p.Val305Asp)
c.4077+3880A>T (n.4077+3880A>T)
n.874T>A
6g.131583829T>CCA365653653ARG1,MED23c.890T>C (p.Val297Ala)
c.632T>C (p.Val211Ala)
c.836T>C (p.Val279Ala)
c.*777T>C (n.*777T>C)
c.635T>C (p.Val212Ala)
c.4095+3880A>G (n.4095+3880A>G)
c.914T>C (p.Val305Ala)
c.4077+3880A>G (n.4077+3880A>G)
n.874T>C
 gnomAD v4
6g.131583829T>GCA365653652ARG1,MED23c.890T>G (p.Val297Gly)
c.632T>G (p.Val211Gly)
c.836T>G (p.Val279Gly)
c.*777T>G (n.*777T>G)
c.635T>G (p.Val212Gly)
c.4095+3880A>C (n.4095+3880A>C)
c.914T>G (p.Val305Gly)
c.4077+3880A>C (n.4077+3880A>C)
n.874T>G
6g.131583830dupCA2680353886ARG1,MED23c.891dup (p.Ala298CysfsTer14)
c.633dup (p.Ala212CysfsTer14)
c.837dup (p.Ala280CysfsTer14)
c.*778dup (n.*778dup)
c.636dup (p.Ala213CysfsTer14)
c.4095+3880dup (n.4095+3880dup)
c.915dup (p.Ala306CysfsTer14)
c.4077+3880dup (n.4077+3880dup)
n.875dup
 gnomAD v4
6g.131583830T>ACA452153335ARG1,MED23c.891T>A (p.Val297=)
c.633T>A (p.Val211=)
c.837T>A (p.Val279=)
c.*778T>A (n.*778T>A)
c.636T>A (p.Val212=)
c.4095+3879A>T (n.4095+3879A>T)
c.915T>A (p.Val305=)
c.4077+3879A>T (n.4077+3879A>T)
n.875T>A
 dbSNP
6g.131583830T>CCA452153336ARG1,MED23c.891T>C (p.Val297=)
c.633T>C (p.Val211=)
c.837T>C (p.Val279=)
c.*778T>C (n.*778T>C)
c.636T>C (p.Val212=)
c.4095+3879A>G (n.4095+3879A>G)
c.915T>C (p.Val305=)
c.4077+3879A>G (n.4077+3879A>G)
n.875T>C
6g.131583830T>GCA452153337ARG1,MED23c.891T>G (p.Val297=)
c.633T>G (p.Val211=)
c.837T>G (p.Val279=)
c.*778T>G (n.*778T>G)
c.636T>G (p.Val212=)
c.4095+3879A>C (n.4095+3879A>C)
c.915T>G (p.Val305=)
c.4077+3879A>C (n.4077+3879A>C)
n.875T>G
6g.131583831G>ACA147898864ARG1,MED23c.892G>A (p.Ala298Thr)
c.634G>A (p.Ala212Thr)
c.838G>A (p.Ala280Thr)
c.*779G>A (n.*779G>A)
c.637G>A (p.Ala213Thr)
c.4095+3878C>T (n.4095+3878C>T)
c.916G>A (p.Ala306Thr)
c.4077+3878C>T (n.4077+3878C>T)
n.876G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.131583831G>CCA3999402ARG1,MED23c.892G>C (p.Ala298Pro)
c.634G>C (p.Ala212Pro)
c.838G>C (p.Ala280Pro)
c.*779G>C (n.*779G>C)
c.637G>C (p.Ala213Pro)
c.4095+3878C>G (n.4095+3878C>G)
c.916G>C (p.Ala306Pro)
c.4077+3878C>G (n.4077+3878C>G)
n.876G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.131583831G=CA1664137881ARG1,MED23c.892G= (p.Ala298=)
c.634G= (p.Ala212=)
c.838G= (p.Ala280=)
c.*779G= (n.*779G=)
c.637G= (p.Ala213=)
c.4095+3878C= (n.4095+3878C=)
c.916G= (p.Ala306=)
c.4077+3878C= (n.4077+3878C=)
n.876G=
6g.131583831G>TCA365653655ARG1,MED23c.892G>T (p.Ala298Ser)
c.634G>T (p.Ala212Ser)
c.838G>T (p.Ala280Ser)
c.*779G>T (n.*779G>T)
c.637G>T (p.Ala213Ser)
c.4095+3878C>A (n.4095+3878C>A)
c.916G>T (p.Ala306Ser)
c.4077+3878C>A (n.4077+3878C>A)
n.876G>T
 gnomAD v4 COSMIC
6g.131583832C>ACA365653656ARG1,MED23c.893C>A (p.Ala298Glu)
c.635C>A (p.Ala212Glu)
c.839C>A (p.Ala280Glu)
c.*780C>A (n.*780C>A)
c.638C>A (p.Ala213Glu)
c.4095+3877G>T (n.4095+3877G>T)
c.917C>A (p.Ala306Glu)
c.4077+3877G>T (n.4077+3877G>T)
n.877C>A
6g.131583832C>GCA365653657ARG1,MED23c.893C>G (p.Ala298Gly)
c.635C>G (p.Ala212Gly)
c.839C>G (p.Ala280Gly)
c.*780C>G (n.*780C>G)
c.638C>G (p.Ala213Gly)
c.4095+3877G>C (n.4095+3877G>C)
c.917C>G (p.Ala306Gly)
c.4077+3877G>C (n.4077+3877G>C)
n.877C>G
 gnomAD v4
6g.131583832C>TCA365653658ARG1,MED23c.893C>T (p.Ala298Val)
c.635C>T (p.Ala212Val)
c.839C>T (p.Ala280Val)
c.*780C>T (n.*780C>T)
c.638C>T (p.Ala213Val)
c.4095+3877G>A (n.4095+3877G>A)
c.917C>T (p.Ala306Val)
c.4077+3877G>A (n.4077+3877G>A)
n.877C>T
6g.131583833A>CCA452153338ARG1,MED23c.894A>C (p.Ala298=)
c.636A>C (p.Ala212=)
c.840A>C (p.Ala280=)
c.*781A>C (n.*781A>C)
c.639A>C (p.Ala213=)
c.4095+3876T>G (n.4095+3876T>G)
c.918A>C (p.Ala306=)
c.4077+3876T>G (n.4077+3876T>G)
n.878A>C
6g.131583833A>GCA452153339ARG1,MED23c.894A>G (p.Ala298=)
c.636A>G (p.Ala212=)
c.840A>G (p.Ala280=)
c.*781A>G (n.*781A>G)
c.639A>G (p.Ala213=)
c.4095+3876T>C (n.4095+3876T>C)
c.918A>G (p.Ala306=)
c.4077+3876T>C (n.4077+3876T>C)
n.878A>G
6g.131583833A>TCA452153340ARG1,MED23c.894A>T (p.Ala298=)
c.636A>T (p.Ala212=)
c.840A>T (p.Ala280=)
c.*781A>T (n.*781A>T)
c.639A>T (p.Ala213=)
c.4095+3876T>A (n.4095+3876T>A)
c.918A>T (p.Ala306=)
c.4077+3876T>A (n.4077+3876T>A)
n.878A>T
6g.131583834A>CCA365653661ARG1,MED23c.895A>C (p.Ile299Leu)
c.637A>C (p.Ile213Leu)
c.841A>C (p.Ile281Leu)
c.*782A>C (n.*782A>C)
c.640A>C (p.Ile214Leu)
c.4095+3875T>G (n.4095+3875T>G)
c.919A>C (p.Ile307Leu)
c.4077+3875T>G (n.4077+3875T>G)
n.879A>C
6g.131583834A>GCA365653659ARG1,MED23c.895A>G (p.Ile299Val)
c.637A>G (p.Ile213Val)
c.841A>G (p.Ile281Val)
c.*782A>G (n.*782A>G)
c.640A>G (p.Ile214Val)
c.4095+3875T>C (n.4095+3875T>C)
c.919A>G (p.Ile307Val)
c.4077+3875T>C (n.4077+3875T>C)
n.879A>G
 gnomAD v4 COSMIC
6g.131583834A>TCA365653660ARG1,MED23c.895A>T (p.Ile299Leu)
c.637A>T (p.Ile213Leu)
c.841A>T (p.Ile281Leu)
c.*782A>T (n.*782A>T)
c.640A>T (p.Ile214Leu)
c.4095+3875T>A (n.4095+3875T>A)
c.919A>T (p.Ile307Leu)
c.4077+3875T>A (n.4077+3875T>A)
n.879A>T
6g.131583835T>ACA365653662ARG1,MED23c.896T>A (p.Ile299Lys)
c.638T>A (p.Ile213Lys)
c.842T>A (p.Ile281Lys)
c.*783T>A (n.*783T>A)
c.641T>A (p.Ile214Lys)
c.4095+3874A>T (n.4095+3874A>T)
c.920T>A (p.Ile307Lys)
c.4077+3874A>T (n.4077+3874A>T)
n.880T>A
 ClinVar dbSNP
6g.131583835T>CCA3999403ARG1,MED23c.896T>C (p.Ile299Thr)
c.638T>C (p.Ile213Thr)
c.842T>C (p.Ile281Thr)
c.*783T>C (n.*783T>C)
c.641T>C (p.Ile214Thr)
c.4095+3874A>G (n.4095+3874A>G)
c.920T>C (p.Ile307Thr)
c.4077+3874A>G (n.4077+3874A>G)
n.880T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.131583835T>GCA365653663ARG1,MED23c.896T>G (p.Ile299Arg)
c.638T>G (p.Ile213Arg)
c.842T>G (p.Ile281Arg)
c.*783T>G (n.*783T>G)
c.641T>G (p.Ile214Arg)
c.4095+3874A>C (n.4095+3874A>C)
c.920T>G (p.Ile307Arg)
c.4077+3874A>C (n.4077+3874A>C)
n.880T>G
6g.131583835T=CA1664137884ARG1,MED23c.896T= (p.Ile299=)
c.638T= (p.Ile213=)
c.842T= (p.Ile281=)
c.*783T= (n.*783T=)
c.641T= (p.Ile214=)
c.4095+3874A= (n.4095+3874A=)
c.920T= (p.Ile307=)
c.4077+3874A= (n.4077+3874A=)
n.880T=
6g.131583836A=CA1664137887ARG1,MED23c.897A= (p.Ile299=)
c.639A= (p.Ile213=)
c.843A= (p.Ile281=)
c.*784A= (n.*784A=)
c.642A= (p.Ile214=)
c.4095+3873T= (n.4095+3873T=)
c.921A= (p.Ile307=)
c.4077+3873T= (n.4077+3873T=)
n.881A=
6g.131583836A>CCA452153341ARG1,MED23c.897A>C (p.Ile299=)
c.639A>C (p.Ile213=)
c.843A>C (p.Ile281=)
c.*784A>C (n.*784A>C)
c.642A>C (p.Ile214=)
c.4095+3873T>G (n.4095+3873T>G)
c.921A>C (p.Ile307=)
c.4077+3873T>G (n.4077+3873T>G)
n.881A>C
6g.131583836A>GCA365653664ARG1,MED23c.897A>G (p.Ile299Met)
c.639A>G (p.Ile213Met)
c.843A>G (p.Ile281Met)
c.*784A>G (n.*784A>G)
c.642A>G (p.Ile214Met)
c.4095+3873T>C (n.4095+3873T>C)
c.921A>G (p.Ile307Met)
c.4077+3873T>C (n.4077+3873T>C)
n.881A>G
6g.131583836A>TCA452153342ARG1,MED23c.897A>T (p.Ile299=)
c.639A>T (p.Ile213=)
c.843A>T (p.Ile281=)
c.*784A>T (n.*784A>T)
c.642A>T (p.Ile214=)
c.4095+3873T>A (n.4095+3873T>A)
c.921A>T (p.Ile307=)
c.4077+3873T>A (n.4077+3873T>A)
n.881A>T
6g.131583837A>CCA365653665ARG1,MED23c.898A>C (p.Thr300Pro)
c.640A>C (p.Thr214Pro)
c.844A>C (p.Thr282Pro)
c.*785A>C (n.*785A>C)
c.643A>C (p.Thr215Pro)
c.4095+3872T>G (n.4095+3872T>G)
c.922A>C (p.Thr308Pro)
c.4077+3872T>G (n.4077+3872T>G)
n.882A>C
6g.131583837A>GCA365653666ARG1,MED23c.898A>G (p.Thr300Ala)
c.640A>G (p.Thr214Ala)
c.844A>G (p.Thr282Ala)
c.*785A>G (n.*785A>G)
c.643A>G (p.Thr215Ala)
c.4095+3872T>C (n.4095+3872T>C)
c.922A>G (p.Thr308Ala)
c.4077+3872T>C (n.4077+3872T>C)
n.882A>G
6g.131583837A>TCA365653667ARG1,MED23c.898A>T (p.Thr300Ser)
c.640A>T (p.Thr214Ser)
c.844A>T (p.Thr282Ser)
c.*785A>T (n.*785A>T)
c.643A>T (p.Thr215Ser)
c.4095+3872T>A (n.4095+3872T>A)
c.922A>T (p.Thr308Ser)
c.4077+3872T>A (n.4077+3872T>A)
n.882A>T
6g.131583837_131583838insTGTAATTTATAAAATAGTTGACA1664137890ARG1,MED23c.898_899insTGTAATTTATAAAATAGTTGA (p.Thr300MetfsTer2)
c.640_641insTGTAATTTATAAAATAGTTGA (p.Thr214MetfsTer2)
c.844_845insTGTAATTTATAAAATAGTTGA (p.Thr282MetfsTer2)
c.*785_*786insTGTAATTTATAAAATAGTTGA (n.*785_*786insTGTAATTTATAAAATAGTTGA)
c.643_644insTGTAATTTATAAAATAGTTGA (p.Thr215MetfsTer2)
c.4095+3872_4095+3873insCAACTATTTTATAAATTACAT (n.4095+3872_4095+3873insCAACTATTTTATAAATTACAT)
c.922_923insTGTAATTTATAAAATAGTTGA (p.Thr308MetfsTer2)
c.4077+3872_4077+3873insCAACTATTTTATAAATTACAT (n.4077+3872_4077+3873insCAACTATTTTATAAATTACAT)
n.882_883insTGTAATTTATAAAATAGTTGA
 dbSNP
6g.131583837_131583839delinsACCCA1664137889ARG1,MED23c.898_900delinsACC (p.Thr300=)
c.640_642delinsACC (p.Thr214=)
c.844_846delinsACC (p.Thr282=)
c.*785_*787delinsACC (n.*785_*787delinsACC)
c.643_645delinsACC (p.Thr215=)
c.4095+3870_4095+3872delinsGGT (n.4095+3870_4095+3872delinsGGT)
c.922_924delinsACC (p.Thr308=)
c.4077+3870_4077+3872delinsGGT (n.4077+3870_4077+3872delinsGGT)
n.882_884delinsACC
6g.131583838C>ACA365653668ARG1,MED23c.899C>A (p.Thr300Asn)
c.641C>A (p.Thr214Asn)
c.845C>A (p.Thr282Asn)
c.*786C>A (n.*786C>A)
c.644C>A (p.Thr215Asn)
c.4095+3871G>T (n.4095+3871G>T)
c.923C>A (p.Thr308Asn)
c.4077+3871G>T (n.4077+3871G>T)
n.883C>A
6g.131583838C=CA1664137894ARG1,MED23c.899C= (p.Thr300=)
c.641C= (p.Thr214=)
c.845C= (p.Thr282=)
c.*786C= (n.*786C=)
c.644C= (p.Thr215=)
c.4095+3871G= (n.4095+3871G=)
c.923C= (p.Thr308=)
c.4077+3871G= (n.4077+3871G=)
n.883C=
6g.131583838C>GCA365653669ARG1,MED23c.899C>G (p.Thr300Ser)
c.641C>G (p.Thr214Ser)
c.845C>G (p.Thr282Ser)
c.*786C>G (n.*786C>G)
c.644C>G (p.Thr215Ser)
c.4095+3871G>C (n.4095+3871G>C)
c.923C>G (p.Thr308Ser)
c.4077+3871G>C (n.4077+3871G>C)
n.883C>G
6g.131583838C>TCA365653670ARG1,MED23c.899C>T (p.Thr300Ile)
c.641C>T (p.Thr214Ile)
c.845C>T (p.Thr282Ile)
c.*786C>T (n.*786C>T)
c.644C>T (p.Thr215Ile)
c.4095+3871G>A (n.4095+3871G>A)
c.923C>T (p.Thr308Ile)
c.4077+3871G>A (n.4077+3871G>A)
n.883C>T
 dbSNP gnomAD v4
6g.131583838_131583839delCA917861943ARG1,MED23c.899_900del (p.Thr300IlefsTer11)
c.641_642del (p.Thr214IlefsTer11)
c.845_846del (p.Thr282IlefsTer11)
c.*786_*787del (n.*786_*787del)
c.644_645del (p.Thr215IlefsTer11)
c.4095+3870_4095+3871del (n.4095+3870_4095+3871del)
c.923_924del (p.Thr308IlefsTer11)
c.4077+3870_4077+3871del (n.4077+3870_4077+3871del)
n.883_884del
 dbSNP
6g.131583839C>ACA452153343ARG1,MED23c.900C>A (p.Thr300=)
c.642C>A (p.Thr214=)
c.846C>A (p.Thr282=)
c.*787C>A (n.*787C>A)
c.645C>A (p.Thr215=)
c.4095+3870G>T (n.4095+3870G>T)
c.924C>A (p.Thr308=)
c.4077+3870G>T (n.4077+3870G>T)
n.884C>A
6g.131583839C=CA1664137897ARG1,MED23c.900C= (p.Thr300=)
c.642C= (p.Thr214=)
c.846C= (p.Thr282=)
c.*787C= (n.*787C=)
c.645C= (p.Thr215=)
c.4095+3870G= (n.4095+3870G=)
c.924C= (p.Thr308=)
c.4077+3870G= (n.4077+3870G=)
n.884C=
6g.131583839C>GCA452153344ARG1,MED23c.900C>G (p.Thr300=)
c.642C>G (p.Thr214=)
c.846C>G (p.Thr282=)
c.*787C>G (n.*787C>G)
c.645C>G (p.Thr215=)
c.4095+3870G>C (n.4095+3870G>C)
c.924C>G (p.Thr308=)
c.4077+3870G>C (n.4077+3870G>C)
n.884C>G
 ClinVar
6g.131583839C>TCA452153345ARG1,MED23c.900C>T (p.Thr300=)
c.642C>T (p.Thr214=)
c.846C>T (p.Thr282=)
c.*787C>T (n.*787C>T)
c.645C>T (p.Thr215=)
c.4095+3870G>A (n.4095+3870G>A)
c.924C>T (p.Thr308=)
c.4077+3870G>A (n.4077+3870G>A)
n.884C>T
6g.131583840T>ACA365653671ARG1,MED23c.901T>A (p.Leu301Met)
c.643T>A (p.Leu215Met)
c.847T>A (p.Leu283Met)
c.*788T>A (n.*788T>A)
c.646T>A (p.Leu216Met)
c.4095+3869A>T (n.4095+3869A>T)
c.925T>A (p.Leu309Met)
c.4077+3869A>T (n.4077+3869A>T)
n.885T>A
6g.131583840T>CCA3999404ARG1,MED23c.901T>C (p.Leu301=)
c.643T>C (p.Leu215=)
c.847T>C (p.Leu283=)
c.*788T>C (n.*788T>C)
c.646T>C (p.Leu216=)
c.4095+3869A>G (n.4095+3869A>G)
c.925T>C (p.Leu309=)
c.4077+3869A>G (n.4077+3869A>G)
n.885T>C
 ClinVar dbSNP ExAC

Number of alleles fetched