| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131583821C>A | CA3999399 | ARG1,MED23 | c.882C>A (p.Asn294Lys) c.624C>A (p.Asn208Lys) c.828C>A (p.Asn276Lys) c.*769C>A (n.*769C>A) c.627C>A (p.Asn209Lys) c.4095+3888G>T (n.4095+3888G>T) c.906C>A (p.Asn302Lys) c.4077+3888G>T (n.4077+3888G>T) n.866C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131583821C= | CA1664137868 | ARG1,MED23 | c.882C= (p.Asn294=) c.624C= (p.Asn208=) c.828C= (p.Asn276=) c.*769C= (n.*769C=) c.627C= (p.Asn209=) c.4095+3888G= (n.4095+3888G=) c.906C= (p.Asn302=) c.4077+3888G= (n.4077+3888G=) n.866C= | |
| 6 | g.131583821C>G | CA365653637 | ARG1,MED23 | c.882C>G (p.Asn294Lys) c.624C>G (p.Asn208Lys) c.828C>G (p.Asn276Lys) c.*769C>G (n.*769C>G) c.627C>G (p.Asn209Lys) c.4095+3888G>C (n.4095+3888G>C) c.906C>G (p.Asn302Lys) c.4077+3888G>C (n.4077+3888G>C) n.866C>G | |
| 6 | g.131583821C>T | CA452153329 | ARG1,MED23 | c.882C>T (p.Asn294=) c.624C>T (p.Asn208=) c.828C>T (p.Asn276=) c.*769C>T (n.*769C>T) c.627C>T (p.Asn209=) c.4095+3888G>A (n.4095+3888G>A) c.906C>T (p.Asn302=) c.4077+3888G>A (n.4077+3888G>A) n.866C>T | |
| 6 | g.131583822A= | CA1664137871 | ARG1,MED23 | c.883A= (p.Thr295=) c.625A= (p.Thr209=) c.829A= (p.Thr277=) c.*770A= (n.*770A=) c.628A= (p.Thr210=) c.4095+3887T= (n.4095+3887T=) c.907A= (p.Thr303=) c.4077+3887T= (n.4077+3887T=) n.867A= | |
| 6 | g.131583822A>C | CA365653638 | ARG1,MED23 | c.883A>C (p.Thr295Pro) c.625A>C (p.Thr209Pro) c.829A>C (p.Thr277Pro) c.*770A>C (n.*770A>C) c.628A>C (p.Thr210Pro) c.4095+3887T>G (n.4095+3887T>G) c.907A>C (p.Thr303Pro) c.4077+3887T>G (n.4077+3887T>G) n.867A>C | |
| 6 | g.131583822A>G | CA3999400 | ARG1,MED23 | c.883A>G (p.Thr295Ala) c.625A>G (p.Thr209Ala) c.829A>G (p.Thr277Ala) c.*770A>G (n.*770A>G) c.628A>G (p.Thr210Ala) c.4095+3887T>C (n.4095+3887T>C) c.907A>G (p.Thr303Ala) c.4077+3887T>C (n.4077+3887T>C) n.867A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131583822A>T | CA365653639 | ARG1,MED23 | c.883A>T (p.Thr295Ser) c.625A>T (p.Thr209Ser) c.829A>T (p.Thr277Ser) c.*770A>T (n.*770A>T) c.628A>T (p.Thr210Ser) c.4095+3887T>A (n.4095+3887T>A) c.907A>T (p.Thr303Ser) c.4077+3887T>A (n.4077+3887T>A) n.867A>T | |
| 6 | g.131583823C>A | CA365653642 | ARG1,MED23 | c.884C>A (p.Thr295Lys) c.626C>A (p.Thr209Lys) c.830C>A (p.Thr277Lys) c.*771C>A (n.*771C>A) c.629C>A (p.Thr210Lys) c.4095+3886G>T (n.4095+3886G>T) c.908C>A (p.Thr303Lys) c.4077+3886G>T (n.4077+3886G>T) n.868C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131583823C= | CA1664137873 | ARG1,MED23 | c.884C= (p.Thr295=) c.626C= (p.Thr209=) c.830C= (p.Thr277=) c.*771C= (n.*771C=) c.629C= (p.Thr210=) c.4095+3886G= (n.4095+3886G=) c.908C= (p.Thr303=) c.4077+3886G= (n.4077+3886G=) n.868C= | |
| 6 | g.131583823C>G | CA365653641 | ARG1,MED23 | c.884C>G (p.Thr295Arg) c.626C>G (p.Thr209Arg) c.830C>G (p.Thr277Arg) c.*771C>G (n.*771C>G) c.629C>G (p.Thr210Arg) c.4095+3886G>C (n.4095+3886G>C) c.908C>G (p.Thr303Arg) c.4077+3886G>C (n.4077+3886G>C) n.868C>G | |
| 6 | g.131583823C>T | CA365653640 | ARG1,MED23 | c.884C>T (p.Thr295Ile) c.626C>T (p.Thr209Ile) c.830C>T (p.Thr277Ile) c.*771C>T (n.*771C>T) c.629C>T (p.Thr210Ile) c.4095+3886G>A (n.4095+3886G>A) c.908C>T (p.Thr303Ile) c.4077+3886G>A (n.4077+3886G>A) n.868C>T | |
| 6 | g.131583824A= | CA1664137875 | ARG1,MED23 | c.885A= (p.Thr295=) c.627A= (p.Thr209=) c.831A= (p.Thr277=) c.*772A= (n.*772A=) c.630A= (p.Thr210=) c.4095+3885T= (n.4095+3885T=) c.909A= (p.Thr303=) c.4077+3885T= (n.4077+3885T=) n.869A= | |
| 6 | g.131583824A>C | CA452153330 | ARG1,MED23 | c.885A>C (p.Thr295=) c.627A>C (p.Thr209=) c.831A>C (p.Thr277=) c.*772A>C (n.*772A>C) c.630A>C (p.Thr210=) c.4095+3885T>G (n.4095+3885T>G) c.909A>C (p.Thr303=) c.4077+3885T>G (n.4077+3885T>G) n.869A>C | |
| 6 | g.131583824A>G | CA3999401 | ARG1,MED23 | c.885A>G (p.Thr295=) c.627A>G (p.Thr209=) c.831A>G (p.Thr277=) c.*772A>G (n.*772A>G) c.630A>G (p.Thr210=) c.4095+3885T>C (n.4095+3885T>C) c.909A>G (p.Thr303=) c.4077+3885T>C (n.4077+3885T>C) n.869A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131583824A>T | CA452153331 | ARG1,MED23 | c.885A>T (p.Thr295=) c.627A>T (p.Thr209=) c.831A>T (p.Thr277=) c.*772A>T (n.*772A>T) c.630A>T (p.Thr210=) c.4095+3885T>A (n.4095+3885T>A) c.909A>T (p.Thr303=) c.4077+3885T>A (n.4077+3885T>A) n.869A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131583825G>A | CA365653643 | ARG1,MED23 | c.886G>A (p.Ala296Thr) c.628G>A (p.Ala210Thr) c.832G>A (p.Ala278Thr) c.*773G>A (n.*773G>A) c.631G>A (p.Ala211Thr) c.4095+3884C>T (n.4095+3884C>T) c.910G>A (p.Ala304Thr) c.4077+3884C>T (n.4077+3884C>T) n.870G>A | |
| 6 | g.131583825G>C | CA365653645 | ARG1,MED23 | c.886G>C (p.Ala296Pro) c.628G>C (p.Ala210Pro) c.832G>C (p.Ala278Pro) c.*773G>C (n.*773G>C) c.631G>C (p.Ala211Pro) c.4095+3884C>G (n.4095+3884C>G) c.910G>C (p.Ala304Pro) c.4077+3884C>G (n.4077+3884C>G) n.870G>C | |
| 6 | g.131583825G>T | CA365653644 | ARG1,MED23 | c.886G>T (p.Ala296Ser) c.628G>T (p.Ala210Ser) c.832G>T (p.Ala278Ser) c.*773G>T (n.*773G>T) c.631G>T (p.Ala211Ser) c.4095+3884C>A (n.4095+3884C>A) c.910G>T (p.Ala304Ser) c.4077+3884C>A (n.4077+3884C>A) n.870G>T | |
| 6 | g.131583826C>A | CA365653646 | ARG1,MED23 | c.887C>A (p.Ala296Glu) c.629C>A (p.Ala210Glu) c.833C>A (p.Ala278Glu) c.*774C>A (n.*774C>A) c.632C>A (p.Ala211Glu) c.4095+3883G>T (n.4095+3883G>T) c.911C>A (p.Ala304Glu) c.4077+3883G>T (n.4077+3883G>T) n.871C>A | |
| 6 | g.131583826C>G | CA365653647 | ARG1,MED23 | c.887C>G (p.Ala296Gly) c.629C>G (p.Ala210Gly) c.833C>G (p.Ala278Gly) c.*774C>G (n.*774C>G) c.632C>G (p.Ala211Gly) c.4095+3883G>C (n.4095+3883G>C) c.911C>G (p.Ala304Gly) c.4077+3883G>C (n.4077+3883G>C) n.871C>G | |
| 6 | g.131583826C>T | CA365653648 | ARG1,MED23 | c.887C>T (p.Ala296Val) c.629C>T (p.Ala210Val) c.833C>T (p.Ala278Val) c.*774C>T (n.*774C>T) c.632C>T (p.Ala211Val) c.4095+3883G>A (n.4095+3883G>A) c.911C>T (p.Ala304Val) c.4077+3883G>A (n.4077+3883G>A) n.871C>T | |
| 6 | g.131583827A>C | CA452153332 | ARG1,MED23 | c.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 | |
| 6 | g.131583827A>G | CA452153333 | ARG1,MED23 | c.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 | |
| 6 | g.131583827A>T | CA452153334 | ARG1,MED23 | c.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 | |
| 6 | g.131583828G>A | CA365653649 | ARG1,MED23 | c.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 | |
| 6 | g.131583828G>C | CA365653650 | ARG1,MED23 | c.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 | |
| 6 | g.131583828G>T | CA365653651 | ARG1,MED23 | c.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 | |
| 6 | g.131583829T>A | CA365653654 | ARG1,MED23 | c.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 | |
| 6 | g.131583829T>C | CA365653653 | ARG1,MED23 | c.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 |
| 6 | g.131583829T>G | CA365653652 | ARG1,MED23 | c.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 | |
| 6 | g.131583830dup | CA2680353886 | ARG1,MED23 | c.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 |
| 6 | g.131583830T>A | CA452153335 | ARG1,MED23 | c.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 |
| 6 | g.131583830T>C | CA452153336 | ARG1,MED23 | c.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 | |
| 6 | g.131583830T>G | CA452153337 | ARG1,MED23 | c.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 | |
| 6 | g.131583831G>A | CA147898864 | ARG1,MED23 | c.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 |
| 6 | g.131583831G>C | CA3999402 | ARG1,MED23 | c.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 |
| 6 | g.131583831G= | CA1664137881 | ARG1,MED23 | c.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= | |
| 6 | g.131583831G>T | CA365653655 | ARG1,MED23 | c.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 |
| 6 | g.131583832C>A | CA365653656 | ARG1,MED23 | c.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 | |
| 6 | g.131583832C>G | CA365653657 | ARG1,MED23 | c.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 |
| 6 | g.131583832C>T | CA365653658 | ARG1,MED23 | c.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 | |
| 6 | g.131583833A>C | CA452153338 | ARG1,MED23 | c.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 | |
| 6 | g.131583833A>G | CA452153339 | ARG1,MED23 | c.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 | |
| 6 | g.131583833A>T | CA452153340 | ARG1,MED23 | c.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 | |
| 6 | g.131583834A>C | CA365653661 | ARG1,MED23 | c.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 | |
| 6 | g.131583834A>G | CA365653659 | ARG1,MED23 | c.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 |
| 6 | g.131583834A>T | CA365653660 | ARG1,MED23 | c.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 | |
| 6 | g.131583835T>A | CA365653662 | ARG1,MED23 | c.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 |
| 6 | g.131583835T>C | CA3999403 | ARG1,MED23 | c.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 |