Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131583792A>C | CA365653582 | ARG1,MED23 | c.853A>C (p.Thr285Pro) c.605-10A>C (n.605-10A>C) c.799A>C (p.Thr267Pro) c.*740A>C (n.*740A>C) c.598A>C (p.Thr200Pro) c.4095+3917T>G (n.4095+3917T>G) c.877A>C (p.Thr293Pro) c.4077+3917T>G (n.4077+3917T>G) n.837A>C | |
6 | g.131583792A>G | CA365653583 | ARG1,MED23 | c.853A>G (p.Thr285Ala) c.605-10A>G (n.605-10A>G) c.799A>G (p.Thr267Ala) c.*740A>G (n.*740A>G) c.598A>G (p.Thr200Ala) c.4095+3917T>C (n.4095+3917T>C) c.877A>G (p.Thr293Ala) c.4077+3917T>C (n.4077+3917T>C) n.837A>G | |
6 | g.131583792A>T | CA365653584 | ARG1,MED23 | c.853A>T (p.Thr285Ser) c.605-10A>T (n.605-10A>T) c.799A>T (p.Thr267Ser) c.*740A>T (n.*740A>T) c.598A>T (p.Thr200Ser) c.4095+3917T>A (n.4095+3917T>A) c.877A>T (p.Thr293Ser) c.4077+3917T>A (n.4077+3917T>A) n.837A>T | |
6 | g.131583793C>A | CA365653585 | ARG1,MED23 | c.854C>A (p.Thr285Lys) c.605-9C>A (n.605-9C>A) c.800C>A (p.Thr267Lys) c.*741C>A (n.*741C>A) c.599C>A (p.Thr200Lys) c.4095+3916G>T (n.4095+3916G>T) c.878C>A (p.Thr293Lys) c.4077+3916G>T (n.4077+3916G>T) n.838C>A | |
6 | g.131583793C>G | CA365653586 | ARG1,MED23 | c.854C>G (p.Thr285Arg) c.605-9C>G (n.605-9C>G) c.800C>G (p.Thr267Arg) c.*741C>G (n.*741C>G) c.599C>G (p.Thr200Arg) c.4095+3916G>C (n.4095+3916G>C) c.878C>G (p.Thr293Arg) c.4077+3916G>C (n.4077+3916G>C) n.838C>G | |
6 | g.131583793C>T | CA365653587 | ARG1,MED23 | c.854C>T (p.Thr285Ile) c.605-9C>T (n.605-9C>T) c.800C>T (p.Thr267Ile) c.*741C>T (n.*741C>T) c.599C>T (p.Thr200Ile) c.4095+3916G>A (n.4095+3916G>A) c.878C>T (p.Thr293Ile) c.4077+3916G>A (n.4077+3916G>A) n.838C>T | gnomAD v4 |
6 | g.131583794A>C | CA452153306 | ARG1,MED23 | c.855A>C (p.Thr285=) c.605-8A>C (n.605-8A>C) c.801A>C (p.Thr267=) c.*742A>C (n.*742A>C) c.600A>C (p.Thr200=) c.4095+3915T>G (n.4095+3915T>G) c.879A>C (p.Thr293=) c.4077+3915T>G (n.4077+3915T>G) n.839A>C | |
6 | g.131583794A>G | CA452153307 | ARG1,MED23 | c.855A>G (p.Thr285=) c.605-8A>G (n.605-8A>G) c.801A>G (p.Thr267=) c.*742A>G (n.*742A>G) c.600A>G (p.Thr200=) c.4095+3915T>C (n.4095+3915T>C) c.879A>G (p.Thr293=) c.4077+3915T>C (n.4077+3915T>C) n.839A>G | |
6 | g.131583794A>T | CA452153308 | ARG1,MED23 | c.855A>T (p.Thr285=) c.605-8A>T (n.605-8A>T) c.801A>T (p.Thr267=) c.*742A>T (n.*742A>T) c.600A>T (p.Thr200=) c.4095+3915T>A (n.4095+3915T>A) c.879A>T (p.Thr293=) c.4077+3915T>A (n.4077+3915T>A) n.839A>T | |
6 | g.131583795C>A | CA3999392 | ARG1,MED23 | c.856C>A (p.Pro286Thr) c.605-7C>A (n.605-7C>A) c.802C>A (p.Pro268Thr) c.*743C>A (n.*743C>A) c.601C>A (p.Pro201Thr) c.4095+3914G>T (n.4095+3914G>T) c.880C>A (p.Pro294Thr) c.4077+3914G>T (n.4077+3914G>T) n.840C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583795C= | CA1664137817 | ARG1,MED23 | c.856C= (p.Pro286=) c.605-7C= (n.605-7C=) c.802C= (p.Pro268=) c.*743C= (n.*743C=) c.601C= (p.Pro201=) c.4095+3914G= (n.4095+3914G=) c.880C= (p.Pro294=) c.4077+3914G= (n.4077+3914G=) n.840C= | |
6 | g.131583795C>G | CA3999393 | ARG1,MED23 | c.856C>G (p.Pro286Ala) c.605-7C>G (n.605-7C>G) c.802C>G (p.Pro268Ala) c.*743C>G (n.*743C>G) c.601C>G (p.Pro201Ala) c.4095+3914G>C (n.4095+3914G>C) c.880C>G (p.Pro294Ala) c.4077+3914G>C (n.4077+3914G>C) n.840C>G | dbSNP ExAC gnomAD v2 |
6 | g.131583795C>T | CA365653588 | ARG1,MED23 | c.856C>T (p.Pro286Ser) c.605-7C>T (n.605-7C>T) c.802C>T (p.Pro268Ser) c.*743C>T (n.*743C>T) c.601C>T (p.Pro201Ser) c.4095+3914G>A (n.4095+3914G>A) c.880C>T (p.Pro294Ser) c.4077+3914G>A (n.4077+3914G>A) n.840C>T | gnomAD v4 |
6 | g.131583796C>A | CA365653590 | ARG1,MED23 | c.857C>A (p.Pro286Gln) c.605-6C>A (n.605-6C>A) c.803C>A (p.Pro268Gln) c.*744C>A (n.*744C>A) c.602C>A (p.Pro201Gln) c.4095+3913G>T (n.4095+3913G>T) c.881C>A (p.Pro294Gln) c.4077+3913G>T (n.4077+3913G>T) n.841C>A | |
6 | g.131583796C= | CA1664137820 | ARG1,MED23 | c.857C= (p.Pro286=) c.605-6C= (n.605-6C=) c.803C= (p.Pro268=) c.*744C= (n.*744C=) c.602C= (p.Pro201=) c.4095+3913G= (n.4095+3913G=) c.881C= (p.Pro294=) c.4077+3913G= (n.4077+3913G=) n.841C= | |
6 | g.131583796C>G | CA365653591 | ARG1,MED23 | c.857C>G (p.Pro286Arg) c.605-6C>G (n.605-6C>G) c.803C>G (p.Pro268Arg) c.*744C>G (n.*744C>G) c.602C>G (p.Pro201Arg) c.4095+3913G>C (n.4095+3913G>C) c.881C>G (p.Pro294Arg) c.4077+3913G>C (n.4077+3913G>C) n.841C>G | |
6 | g.131583796C>T | CA365653589 | ARG1,MED23 | c.857C>T (p.Pro286Leu) c.605-6C>T (n.605-6C>T) c.803C>T (p.Pro268Leu) c.*744C>T (n.*744C>T) c.602C>T (p.Pro201Leu) c.4095+3913G>A (n.4095+3913G>A) c.881C>T (p.Pro294Leu) c.4077+3913G>A (n.4077+3913G>A) n.841C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131583796_131583799del | CA913109528 | ARG1,MED23 | c.857_860del (p.Pro286GlnfsTer3) c.605-6_605-3del (n.605-6_605-3del) c.803_806del (p.Pro268GlnfsTer3) c.*744_*747del (n.*744_*747del) c.602_605del (p.Pro201GlnfsTer3) c.4095+3910_4095+3913del (n.4095+3910_4095+3913del) c.881_884del (p.Pro294GlnfsTer3) c.4077+3910_4077+3913del (n.4077+3910_4077+3913del) n.841_844del | |
6 | g.131583796_131583799delinsCAGA | CA1664137821 | ARG1,MED23 | c.857_860delinsCAGA (p.Pro286=) c.605-6_605-3delinsCAGA (n.605-6_605-3delinsCAGA) c.803_806delinsCAGA (p.Pro268=) c.*744_*747delinsCAGA (n.*744_*747delinsCAGA) c.602_605delinsCAGA (p.Pro201=) c.4095+3910_4095+3913delinsTCTG (n.4095+3910_4095+3913delinsTCTG) c.881_884delinsCAGA (p.Pro294=) c.4077+3910_4077+3913delinsTCTG (n.4077+3910_4077+3913delinsTCTG) n.841_844delinsCAGA | |
6 | g.131583797A>C | CA452153309 | ARG1,MED23 | c.858A>C (p.Pro286=) c.605-5A>C (n.605-5A>C) c.804A>C (p.Pro268=) c.*745A>C (n.*745A>C) c.603A>C (p.Pro201=) c.4095+3912T>G (n.4095+3912T>G) c.882A>C (p.Pro294=) c.4077+3912T>G (n.4077+3912T>G) n.842A>C | |
6 | g.131583797A>G | CA452153310 | ARG1,MED23 | c.858A>G (p.Pro286=) c.605-5A>G (n.605-5A>G) c.804A>G (p.Pro268=) c.*745A>G (n.*745A>G) c.603A>G (p.Pro201=) c.4095+3912T>C (n.4095+3912T>C) c.882A>G (p.Pro294=) c.4077+3912T>C (n.4077+3912T>C) n.842A>G | ClinVar dbSNP gnomAD v4 |
6 | g.131583797A>T | CA452153311 | ARG1,MED23 | c.858A>T (p.Pro286=) c.605-5A>T (n.605-5A>T) c.804A>T (p.Pro268=) c.*745A>T (n.*745A>T) c.603A>T (p.Pro201=) c.4095+3912T>A (n.4095+3912T>A) c.882A>T (p.Pro294=) c.4077+3912T>A (n.4077+3912T>A) n.842A>T | |
6 | g.131583802_131583804del | CA570508600 | ARG1,MED23 | c.863_865del (p.Glu288del) c.605_607del c.809_811del (p.Glu270del) c.*750_*752del (n.*750_*752del) c.608_610del (p.Glu203del) c.4095+3910_4095+3912del (n.4095+3910_4095+3912del) c.887_889del (p.Glu296del) c.4077+3910_4077+3912del (n.4077+3910_4077+3912del) n.847_849del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583798G>A | CA365653592 | ARG1,MED23 | c.859G>A (p.Glu287Lys) c.605-4G>A (n.605-4G>A) c.805G>A (p.Glu269Lys) c.*746G>A (n.*746G>A) c.604G>A (p.Glu202Lys) c.4095+3911C>T (n.4095+3911C>T) c.883G>A (p.Glu295Lys) c.4077+3911C>T (n.4077+3911C>T) n.843G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131583798G>C | CA365653594 | ARG1,MED23 | c.859G>C (p.Glu287Gln) c.605-4G>C (n.605-4G>C) c.805G>C (p.Glu269Gln) c.*746G>C (n.*746G>C) c.604G>C (p.Glu202Gln) c.4095+3911C>G (n.4095+3911C>G) c.883G>C (p.Glu295Gln) c.4077+3911C>G (n.4077+3911C>G) n.843G>C | |
6 | g.131583798G= | CA1664137825 | ARG1,MED23 | c.859G= (p.Glu287=) c.605-4G= (n.605-4G=) c.805G= (p.Glu269=) c.*746G= (n.*746G=) c.604G= (p.Glu202=) c.4095+3911C= (n.4095+3911C=) c.883G= (p.Glu295=) c.4077+3911C= (n.4077+3911C=) n.843G= | |
6 | g.131583798G>T | CA365653593 | ARG1,MED23 | c.859G>T (p.Glu287Ter) c.605-4G>T (n.605-4G>T) c.805G>T (p.Glu269Ter) c.*746G>T (n.*746G>T) c.604G>T (p.Glu202Ter) c.4095+3911C>A (n.4095+3911C>A) c.883G>T (p.Glu295Ter) c.4077+3911C>A (n.4077+3911C>A) n.843G>T | |
6 | g.131583799A>C | CA365653595 | ARG1,MED23 | c.860A>C (p.Glu287Ala) c.605-3A>C (n.605-3A>C) c.806A>C (p.Glu269Ala) c.*747A>C (n.*747A>C) c.605A>C (p.Glu202Ala) c.4095+3910T>G (n.4095+3910T>G) c.884A>C (p.Glu295Ala) c.4077+3910T>G (n.4077+3910T>G) n.844A>C | |
6 | g.131583799A>G | CA365653596 | ARG1,MED23 | c.860A>G (p.Glu287Gly) c.605-3A>G (n.605-3A>G) c.806A>G (p.Glu269Gly) c.*747A>G (n.*747A>G) c.605A>G (p.Glu202Gly) c.4095+3910T>C (n.4095+3910T>C) c.884A>G (p.Glu295Gly) c.4077+3910T>C (n.4077+3910T>C) n.844A>G | |
6 | g.131583799A>T | CA365653597 | ARG1,MED23 | c.860A>T (p.Glu287Val) c.605-3A>T (n.605-3A>T) c.806A>T (p.Glu269Val) c.*747A>T (n.*747A>T) c.605A>T (p.Glu202Val) c.4095+3910T>A (n.4095+3910T>A) c.884A>T (p.Glu295Val) c.4077+3910T>A (n.4077+3910T>A) n.844A>T | |
6 | g.131583800del | CA2680353837 | ARG1,MED23 | c.861del (p.Glu288LysfsTer2) c.605-2del (n.605-2del) c.807del (p.Glu270LysfsTer2) c.*748del (n.*748del) c.606del (p.Glu203LysfsTer2) c.4095+3910del (n.4095+3910del) c.885del (p.Glu296LysfsTer2) c.4077+3910del (n.4077+3910del) n.845del | gnomAD v4 |
6 | g.131583800A>C | CA365653598 | ARG1,MED23 | c.861A>C (p.Glu287Asp) c.605-2A>C (n.605-2A>C) c.807A>C (p.Glu269Asp) c.*748A>C (n.*748A>C) c.606A>C (p.Glu202Asp) c.4095+3909T>G (n.4095+3909T>G) c.885A>C (p.Glu295Asp) c.4077+3909T>G (n.4077+3909T>G) n.845A>C | |
6 | g.131583800A>G | CA452153312 | ARG1,MED23 | c.861A>G (p.Glu287=) c.605-2A>G (n.605-2A>G) c.807A>G (p.Glu269=) c.*748A>G (n.*748A>G) c.606A>G (p.Glu202=) c.4095+3909T>C (n.4095+3909T>C) c.885A>G (p.Glu295=) c.4077+3909T>C (n.4077+3909T>C) n.845A>G | gnomAD v4 |
6 | g.131583800A>T | CA365653599 | ARG1,MED23 | c.861A>T (p.Glu287Asp) c.605-2A>T (n.605-2A>T) c.807A>T (p.Glu269Asp) c.*748A>T (n.*748A>T) c.606A>T (p.Glu202Asp) c.4095+3909T>A (n.4095+3909T>A) c.885A>T (p.Glu295Asp) c.4077+3909T>A (n.4077+3909T>A) n.845A>T | |
6 | g.131583801G>A | CA147898811 | ARG1,MED23 | c.862G>A (p.Glu288Lys) c.605-1G>A (n.605-1G>A) c.808G>A (p.Glu270Lys) c.*749G>A (n.*749G>A) c.607G>A (p.Glu203Lys) c.4095+3908C>T (n.4095+3908C>T) c.886G>A (p.Glu296Lys) c.4077+3908C>T (n.4077+3908C>T) n.846G>A | ClinVar dbSNP |
6 | g.131583801G>C | CA365653600 | ARG1,MED23 | c.862G>C (p.Glu288Gln) c.605-1G>C (n.605-1G>C) c.808G>C (p.Glu270Gln) c.*749G>C (n.*749G>C) c.607G>C (p.Glu203Gln) c.4095+3908C>G (n.4095+3908C>G) c.886G>C (p.Glu296Gln) c.4077+3908C>G (n.4077+3908C>G) n.846G>C | |
6 | g.131583801G= | CA1664137829 | ARG1,MED23 | c.862G= (p.Glu288=) c.605-1G= (n.605-1G=) c.808G= (p.Glu270=) c.*749G= (n.*749G=) c.607G= (p.Glu203=) c.4095+3908C= (n.4095+3908C=) c.886G= (p.Glu296=) c.4077+3908C= (n.4077+3908C=) n.846G= | |
6 | g.131583801G>T | CA365653601 | ARG1,MED23 | c.862G>T (p.Glu288Ter) c.605-1G>T (n.605-1G>T) c.808G>T (p.Glu270Ter) c.*749G>T (n.*749G>T) c.607G>T (p.Glu203Ter) c.4095+3908C>A (n.4095+3908C>A) c.886G>T (p.Glu296Ter) c.4077+3908C>A (n.4077+3908C>A) n.846G>T | |
6 | g.131583802A>C | CA365653602 | ARG1,MED23 | c.863A>C (p.Glu288Ala) c.605A>C (p.Glu202Ala) c.809A>C (p.Glu270Ala) c.*750A>C (n.*750A>C) c.608A>C (p.Glu203Ala) c.4095+3907T>G (n.4095+3907T>G) c.887A>C (p.Glu296Ala) c.4077+3907T>G (n.4077+3907T>G) n.847A>C | |
6 | g.131583802A>G | CA365653603 | ARG1,MED23 | c.863A>G (p.Glu288Gly) c.605A>G (p.Glu202Gly) c.809A>G (p.Glu270Gly) c.*750A>G (n.*750A>G) c.608A>G (p.Glu203Gly) c.4095+3907T>C (n.4095+3907T>C) c.887A>G (p.Glu296Gly) c.4077+3907T>C (n.4077+3907T>C) n.847A>G | gnomAD v4 |
6 | g.131583802A>T | CA365653604 | ARG1,MED23 | c.863A>T (p.Glu288Val) c.605A>T (p.Glu202Val) c.809A>T (p.Glu270Val) c.*750A>T (n.*750A>T) c.608A>T (p.Glu203Val) c.4095+3907T>A (n.4095+3907T>A) c.887A>T (p.Glu296Val) c.4077+3907T>A (n.4077+3907T>A) n.847A>T | |
6 | g.131583803A= | CA1664137833 | ARG1,MED23 | c.864A= (p.Glu288=) c.606A= (p.Glu202=) c.810A= (p.Glu270=) c.*751A= (n.*751A=) c.609A= (p.Glu203=) c.4095+3906T= (n.4095+3906T=) c.888A= (p.Glu296=) c.4077+3906T= (n.4077+3906T=) n.848A= | |
6 | g.131583803A>C | CA365653606 | ARG1,MED23 | c.864A>C (p.Glu288Asp) c.606A>C (p.Glu202Asp) c.810A>C (p.Glu270Asp) c.*751A>C (n.*751A>C) c.609A>C (p.Glu203Asp) c.4095+3906T>G (n.4095+3906T>G) c.888A>C (p.Glu296Asp) c.4077+3906T>G (n.4077+3906T>G) n.848A>C | |
6 | g.131583803A>G | CA452153313 | ARG1,MED23 | c.864A>G (p.Glu288=) c.606A>G (p.Glu202=) c.810A>G (p.Glu270=) c.*751A>G (n.*751A>G) c.609A>G (p.Glu203=) c.4095+3906T>C (n.4095+3906T>C) c.888A>G (p.Glu296=) c.4077+3906T>C (n.4077+3906T>C) n.848A>G | |
6 | g.131583803A>T | CA365653605 | ARG1,MED23 | c.864A>T (p.Glu288Asp) c.606A>T (p.Glu202Asp) c.810A>T (p.Glu270Asp) c.*751A>T (n.*751A>T) c.609A>T (p.Glu203Asp) c.4095+3906T>A (n.4095+3906T>A) c.888A>T (p.Glu296Asp) c.4077+3906T>A (n.4077+3906T>A) n.848A>T | dbSNP |
6 | g.131583804G>A | CA365653607 | ARG1,MED23 | c.865G>A (p.Val289Ile) c.607G>A (p.Val203Ile) c.811G>A (p.Val271Ile) c.*752G>A (n.*752G>A) c.610G>A (p.Val204Ile) c.4095+3905C>T (n.4095+3905C>T) c.889G>A (p.Val297Ile) c.4077+3905C>T (n.4077+3905C>T) n.849G>A | |
6 | g.131583804G>C | CA365653608 | ARG1,MED23 | c.865G>C (p.Val289Leu) c.607G>C (p.Val203Leu) c.811G>C (p.Val271Leu) c.*752G>C (n.*752G>C) c.610G>C (p.Val204Leu) c.4095+3905C>G (n.4095+3905C>G) c.889G>C (p.Val297Leu) c.4077+3905C>G (n.4077+3905C>G) n.849G>C | |
6 | g.131583804G>T | CA365653609 | ARG1,MED23 | c.865G>T (p.Val289Leu) c.607G>T (p.Val203Leu) c.811G>T (p.Val271Leu) c.*752G>T (n.*752G>T) c.610G>T (p.Val204Leu) c.4095+3905C>A (n.4095+3905C>A) c.889G>T (p.Val297Leu) c.4077+3905C>A (n.4077+3905C>A) n.849G>T | |
6 | g.131583805T>A | CA365653610 | ARG1,MED23 | c.866T>A (p.Val289Glu) c.608T>A (p.Val203Glu) c.812T>A (p.Val271Glu) c.*753T>A (n.*753T>A) c.611T>A (p.Val204Glu) c.4095+3904A>T (n.4095+3904A>T) c.890T>A (p.Val297Glu) c.4077+3904A>T (n.4077+3904A>T) n.850T>A | |
6 | g.131583805T>C | CA365653611 | ARG1,MED23 | c.866T>C (p.Val289Ala) c.608T>C (p.Val203Ala) c.812T>C (p.Val271Ala) c.*753T>C (n.*753T>C) c.611T>C (p.Val204Ala) c.4095+3904A>G (n.4095+3904A>G) c.890T>C (p.Val297Ala) c.4077+3904A>G (n.4077+3904A>G) n.850T>C | |
6 | g.131583805T>G | CA365653612 | ARG1,MED23 | c.866T>G (p.Val289Gly) c.608T>G (p.Val203Gly) c.812T>G (p.Val271Gly) c.*753T>G (n.*753T>G) c.611T>G (p.Val204Gly) c.4095+3904A>C (n.4095+3904A>C) c.890T>G (p.Val297Gly) c.4077+3904A>C (n.4077+3904A>C) n.850T>G | |
6 | g.131583806A>C | CA452153314 | ARG1,MED23 | c.867A>C (p.Val289=) c.609A>C (p.Val203=) c.813A>C (p.Val271=) c.*754A>C (n.*754A>C) c.612A>C (p.Val204=) c.4095+3903T>G (n.4095+3903T>G) c.891A>C (p.Val297=) c.4077+3903T>G (n.4077+3903T>G) n.851A>C | |
6 | g.131583806A>G | CA452153316 | ARG1,MED23 | c.867A>G (p.Val289=) c.609A>G (p.Val203=) c.813A>G (p.Val271=) c.*754A>G (n.*754A>G) c.612A>G (p.Val204=) c.4095+3903T>C (n.4095+3903T>C) c.891A>G (p.Val297=) c.4077+3903T>C (n.4077+3903T>C) n.851A>G | |
6 | g.131583806A>T | CA452153315 | ARG1,MED23 | c.867A>T (p.Val289=) c.609A>T (p.Val203=) c.813A>T (p.Val271=) c.*754A>T (n.*754A>T) c.612A>T (p.Val204=) c.4095+3903T>A (n.4095+3903T>A) c.891A>T (p.Val297=) c.4077+3903T>A (n.4077+3903T>A) n.851A>T | |
6 | g.131583807A>C | CA365653613 | ARG1,MED23 | c.868A>C (p.Thr290Pro) c.610A>C (p.Thr204Pro) c.814A>C (p.Thr272Pro) c.*755A>C (n.*755A>C) c.613A>C (p.Thr205Pro) c.4095+3902T>G (n.4095+3902T>G) c.892A>C (p.Thr298Pro) c.4077+3902T>G (n.4077+3902T>G) n.852A>C | gnomAD v4 |
6 | g.131583807A>G | CA365653614 | ARG1,MED23 | c.868A>G (p.Thr290Ala) c.610A>G (p.Thr204Ala) c.814A>G (p.Thr272Ala) c.*755A>G (n.*755A>G) c.613A>G (p.Thr205Ala) c.4095+3902T>C (n.4095+3902T>C) c.892A>G (p.Thr298Ala) c.4077+3902T>C (n.4077+3902T>C) n.852A>G | gnomAD v4 |
6 | g.131583807A>T | CA365653615 | ARG1,MED23 | c.868A>T (p.Thr290Ser) c.610A>T (p.Thr204Ser) c.814A>T (p.Thr272Ser) c.*755A>T (n.*755A>T) c.613A>T (p.Thr205Ser) c.4095+3902T>A (n.4095+3902T>A) c.892A>T (p.Thr298Ser) c.4077+3902T>A (n.4077+3902T>A) n.852A>T | |
6 | g.131583808C>A | CA365653616 | ARG1,MED23 | c.869C>A (p.Thr290Asn) c.611C>A (p.Thr204Asn) c.815C>A (p.Thr272Asn) c.*756C>A (n.*756C>A) c.614C>A (p.Thr205Asn) c.4095+3901G>T (n.4095+3901G>T) c.893C>A (p.Thr298Asn) c.4077+3901G>T (n.4077+3901G>T) n.853C>A | gnomAD v4 |
6 | g.131583808C= | CA1664137837 | ARG1,MED23 | c.869C= (p.Thr290=) c.611C= (p.Thr204=) c.815C= (p.Thr272=) c.*756C= (n.*756C=) c.614C= (p.Thr205=) c.4095+3901G= (n.4095+3901G=) c.893C= (p.Thr298=) c.4077+3901G= (n.4077+3901G=) n.853C= | |
6 | g.131583808C>G | CA339970 | ARG1,MED23 | c.869C>G (p.Thr290Ser) c.611C>G (p.Thr204Ser) c.815C>G (p.Thr272Ser) c.*756C>G (n.*756C>G) c.614C>G (p.Thr205Ser) c.4095+3901G>C (n.4095+3901G>C) c.893C>G (p.Thr298Ser) c.4077+3901G>C (n.4077+3901G>C) n.853C>G | ClinVar dbSNP |
6 | g.131583808C>T | CA365653617 | ARG1,MED23 | c.869C>T (p.Thr290Ile) c.611C>T (p.Thr204Ile) c.815C>T (p.Thr272Ile) c.*756C>T (n.*756C>T) c.614C>T (p.Thr205Ile) c.4095+3901G>A (n.4095+3901G>A) c.893C>T (p.Thr298Ile) c.4077+3901G>A (n.4077+3901G>A) n.853C>T | gnomAD v4 |
6 | g.131583809T>A | CA452153317 | ARG1,MED23 | c.870T>A (p.Thr290=) c.612T>A (p.Thr204=) c.816T>A (p.Thr272=) c.*757T>A (n.*757T>A) c.615T>A (p.Thr205=) c.4095+3900A>T (n.4095+3900A>T) c.894T>A (p.Thr298=) c.4077+3900A>T (n.4077+3900A>T) n.854T>A | |
6 | g.131583809T>C | CA452153318 | ARG1,MED23 | c.870T>C (p.Thr290=) c.612T>C (p.Thr204=) c.816T>C (p.Thr272=) c.*757T>C (n.*757T>C) c.615T>C (p.Thr205=) c.4095+3900A>G (n.4095+3900A>G) c.894T>C (p.Thr298=) c.4077+3900A>G (n.4077+3900A>G) n.854T>C | |
6 | g.131583809T>G | CA452153319 | ARG1,MED23 | c.870T>G (p.Thr290=) c.612T>G (p.Thr204=) c.816T>G (p.Thr272=) c.*757T>G (n.*757T>G) c.615T>G (p.Thr205=) c.4095+3900A>C (n.4095+3900A>C) c.894T>G (p.Thr298=) c.4077+3900A>C (n.4077+3900A>C) n.854T>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131583809T= | CA1664137840 | ARG1,MED23 | c.870T= (p.Thr290=) c.612T= (p.Thr204=) c.816T= (p.Thr272=) c.*757T= (n.*757T=) c.615T= (p.Thr205=) c.4095+3900A= (n.4095+3900A=) c.894T= (p.Thr298=) c.4077+3900A= (n.4077+3900A=) n.854T= | |
6 | g.131583810C>A | CA452153320 | ARG1,MED23 | c.871C>A (p.Arg291=) c.613C>A (p.Arg205=) c.817C>A (p.Arg273=) c.*758C>A (n.*758C>A) c.616C>A (p.Arg206=) c.4095+3899G>T (n.4095+3899G>T) c.895C>A (p.Arg299=) c.4077+3899G>T (n.4077+3899G>T) n.855C>A | |
6 | g.131583810C= | CA1664137844 | ARG1,MED23 | c.871C= (p.Arg291=) c.613C= (p.Arg205=) c.817C= (p.Arg273=) c.*758C= (n.*758C=) c.616C= (p.Arg206=) c.4095+3899G= (n.4095+3899G=) c.895C= (p.Arg299=) c.4077+3899G= (n.4077+3899G=) n.855C= | |
6 | g.131583810C>G | CA365653618 | ARG1,MED23 | c.871C>G (p.Arg291Gly) c.613C>G (p.Arg205Gly) c.817C>G (p.Arg273Gly) c.*758C>G (n.*758C>G) c.616C>G (p.Arg206Gly) c.4095+3899G>C (n.4095+3899G>C) c.895C>G (p.Arg299Gly) c.4077+3899G>C (n.4077+3899G>C) n.855C>G | |
6 | g.131583810C>T | CA339968 | ARG1,MED23 | c.871C>T (p.Arg291Ter) c.613C>T (p.Arg205Ter) c.817C>T (p.Arg273Ter) c.*758C>T (n.*758C>T) c.616C>T (p.Arg206Ter) c.4095+3899G>A (n.4095+3899G>A) c.895C>T (p.Arg299Ter) c.4077+3899G>A (n.4077+3899G>A) n.855C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583811G>A | CA3999394 | ARG1,MED23 | c.872G>A (p.Arg291Gln) c.614G>A (p.Arg205Gln) c.818G>A (p.Arg273Gln) c.*759G>A (n.*759G>A) c.617G>A (p.Arg206Gln) c.4095+3898C>T (n.4095+3898C>T) c.896G>A (p.Arg299Gln) c.4077+3898C>T (n.4077+3898C>T) n.856G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583811G>C | CA3999396 | ARG1,MED23 | c.872G>C (p.Arg291Pro) c.614G>C (p.Arg205Pro) c.818G>C (p.Arg273Pro) c.*759G>C (n.*759G>C) c.617G>C (p.Arg206Pro) c.4095+3898C>G (n.4095+3898C>G) c.896G>C (p.Arg299Pro) c.4077+3898C>G (n.4077+3898C>G) n.856G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131583811G= | CA1664137849 | ARG1,MED23 | c.872G= (p.Arg291=) c.614G= (p.Arg205=) c.818G= (p.Arg273=) c.*759G= (n.*759G=) c.617G= (p.Arg206=) c.4095+3898C= (n.4095+3898C=) c.896G= (p.Arg299=) c.4077+3898C= (n.4077+3898C=) n.856G= | |
6 | g.131583811G>T | CA365653619 | ARG1,MED23 | c.872G>T (p.Arg291Leu) c.614G>T (p.Arg205Leu) c.818G>T (p.Arg273Leu) c.*759G>T (n.*759G>T) c.617G>T (p.Arg206Leu) c.4095+3898C>A (n.4095+3898C>A) c.896G>T (p.Arg299Leu) c.4077+3898C>A (n.4077+3898C>A) n.856G>T | gnomAD v4 |
6 | g.131583811_131583812del | CA913109529 | ARG1,MED23 | c.872_873del (p.Arg291HisfsTer20) c.614_615del (p.Arg205HisfsTer20) c.818_819del (p.Arg273HisfsTer20) c.*759_*760del (n.*759_*760del) c.617_618del (p.Arg206HisfsTer20) c.4095+3897_4095+3898del (n.4095+3897_4095+3898del) c.896_897del (p.Arg299HisfsTer20) c.4077+3897_4077+3898del (n.4077+3897_4077+3898del) n.856_857del | |
6 | g.131583811_131583812delinsGA | CA1664137850 | ARG1,MED23 | c.872_873delinsGA (p.Arg291=) c.614_615delinsGA (p.Arg205=) c.818_819delinsGA (p.Arg273=) c.*759_*760delinsGA (n.*759_*760delinsGA) c.617_618delinsGA (p.Arg206=) c.4095+3897_4095+3898delinsTC (n.4095+3897_4095+3898delinsTC) c.896_897delinsGA (p.Arg299=) c.4077+3897_4077+3898delinsTC (n.4077+3897_4077+3898delinsTC) n.856_857delinsGA | |
6 | g.131583812A>C | CA452153323 | ARG1,MED23 | c.873A>C (p.Arg291=) c.615A>C (p.Arg205=) c.819A>C (p.Arg273=) c.*760A>C (n.*760A>C) c.618A>C (p.Arg206=) c.4095+3897T>G (n.4095+3897T>G) c.897A>C (p.Arg299=) c.4077+3897T>G (n.4077+3897T>G) n.857A>C | |
6 | g.131583812A>G | CA452153321 | ARG1,MED23 | c.873A>G (p.Arg291=) c.615A>G (p.Arg205=) c.819A>G (p.Arg273=) c.*760A>G (n.*760A>G) c.618A>G (p.Arg206=) c.4095+3897T>C (n.4095+3897T>C) c.897A>G (p.Arg299=) c.4077+3897T>C (n.4077+3897T>C) n.857A>G | |
6 | g.131583812A>T | CA452153322 | ARG1,MED23 | c.873A>T (p.Arg291=) c.615A>T (p.Arg205=) c.819A>T (p.Arg273=) c.*760A>T (n.*760A>T) c.618A>T (p.Arg206=) c.4095+3897T>A (n.4095+3897T>A) c.897A>T (p.Arg299=) c.4077+3897T>A (n.4077+3897T>A) n.857A>T | |
6 | g.131583813del | CA3999395 | ARG1,MED23 | c.874del (p.Thr292GlnfsTer2) c.616del (p.Thr206GlnfsTer2) c.820del (p.Thr274GlnfsTer2) c.*761del (n.*761del) c.619del (p.Thr207GlnfsTer2) c.4095+3897del (n.4095+3897del) c.898del (p.Thr300GlnfsTer2) c.4077+3897del (n.4077+3897del) n.858del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131583813A>C | CA365653620 | ARG1,MED23 | c.874A>C (p.Thr292Pro) c.616A>C (p.Thr206Pro) c.820A>C (p.Thr274Pro) c.*761A>C (n.*761A>C) c.619A>C (p.Thr207Pro) c.4095+3896T>G (n.4095+3896T>G) c.898A>C (p.Thr300Pro) c.4077+3896T>G (n.4077+3896T>G) n.858A>C | |
6 | g.131583813A>G | CA365653621 | ARG1,MED23 | c.874A>G (p.Thr292Ala) c.616A>G (p.Thr206Ala) c.820A>G (p.Thr274Ala) c.*761A>G (n.*761A>G) c.619A>G (p.Thr207Ala) c.4095+3896T>C (n.4095+3896T>C) c.898A>G (p.Thr300Ala) c.4077+3896T>C (n.4077+3896T>C) n.858A>G | |
6 | g.131583813A>T | CA365653622 | ARG1,MED23 | c.874A>T (p.Thr292Ser) c.616A>T (p.Thr206Ser) c.820A>T (p.Thr274Ser) c.*761A>T (n.*761A>T) c.619A>T (p.Thr207Ser) c.4095+3896T>A (n.4095+3896T>A) c.898A>T (p.Thr300Ser) c.4077+3896T>A (n.4077+3896T>A) n.858A>T | |
6 | g.131583814C>A | CA365653623 | ARG1,MED23 | c.875C>A (p.Thr292Lys) c.617C>A (p.Thr206Lys) c.821C>A (p.Thr274Lys) c.*762C>A (n.*762C>A) c.620C>A (p.Thr207Lys) c.4095+3895G>T (n.4095+3895G>T) c.899C>A (p.Thr300Lys) c.4077+3895G>T (n.4077+3895G>T) n.859C>A | |
6 | g.131583814C>G | CA365653624 | ARG1,MED23 | c.875C>G (p.Thr292Arg) c.617C>G (p.Thr206Arg) c.821C>G (p.Thr274Arg) c.*762C>G (n.*762C>G) c.620C>G (p.Thr207Arg) c.4095+3895G>C (n.4095+3895G>C) c.899C>G (p.Thr300Arg) c.4077+3895G>C (n.4077+3895G>C) n.859C>G | ClinVar dbSNP |
6 | g.131583814C>T | CA365653625 | ARG1,MED23 | c.875C>T (p.Thr292Ile) c.617C>T (p.Thr206Ile) c.821C>T (p.Thr274Ile) c.*762C>T (n.*762C>T) c.620C>T (p.Thr207Ile) c.4095+3895G>A (n.4095+3895G>A) c.899C>T (p.Thr300Ile) c.4077+3895G>A (n.4077+3895G>A) n.859C>T | gnomAD v4 COSMIC |
6 | g.131583815A>C | CA452153324 | ARG1,MED23 | c.876A>C (p.Thr292=) c.618A>C (p.Thr206=) c.822A>C (p.Thr274=) c.*763A>C (n.*763A>C) c.621A>C (p.Thr207=) c.4095+3894T>G (n.4095+3894T>G) c.900A>C (p.Thr300=) c.4077+3894T>G (n.4077+3894T>G) n.860A>C | |
6 | g.131583815A>G | CA452153325 | ARG1,MED23 | c.876A>G (p.Thr292=) c.618A>G (p.Thr206=) c.822A>G (p.Thr274=) c.*763A>G (n.*763A>G) c.621A>G (p.Thr207=) c.4095+3894T>C (n.4095+3894T>C) c.900A>G (p.Thr300=) c.4077+3894T>C (n.4077+3894T>C) n.860A>G | ClinVar |
6 | g.131583815A>T | CA452153326 | ARG1,MED23 | c.876A>T (p.Thr292=) c.618A>T (p.Thr206=) c.822A>T (p.Thr274=) c.*763A>T (n.*763A>T) c.621A>T (p.Thr207=) c.4095+3894T>A (n.4095+3894T>A) c.900A>T (p.Thr300=) c.4077+3894T>A (n.4077+3894T>A) n.860A>T | ClinVar |
6 | g.131583816del | CA2695207017 | ARG1,MED23 | c.877del (p.Val293Ter) c.619del (p.Val207Ter) c.823del (p.Val275Ter) c.*764del (n.*764del) c.622del (p.Val208Ter) c.4095+3893del (n.4095+3893del) c.901del (p.Val301Ter) c.4077+3893del (n.4077+3893del) n.861del | ClinVar |
6 | g.131583816G>A | CA365653626 | ARG1,MED23 | c.877G>A (p.Val293Met) c.619G>A (p.Val207Met) c.823G>A (p.Val275Met) c.*764G>A (n.*764G>A) c.622G>A (p.Val208Met) c.4095+3893C>T (n.4095+3893C>T) c.901G>A (p.Val301Met) c.4077+3893C>T (n.4077+3893C>T) n.861G>A | |
6 | g.131583816G>C | CA3999397 | ARG1,MED23 | c.877G>C (p.Val293Leu) c.619G>C (p.Val207Leu) c.823G>C (p.Val275Leu) c.*764G>C (n.*764G>C) c.622G>C (p.Val208Leu) c.4095+3893C>G (n.4095+3893C>G) c.901G>C (p.Val301Leu) c.4077+3893C>G (n.4077+3893C>G) n.861G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131583816G= | CA1664137857 | ARG1,MED23 | c.877G= (p.Val293=) c.619G= (p.Val207=) c.823G= (p.Val275=) c.*764G= (n.*764G=) c.622G= (p.Val208=) c.4095+3893C= (n.4095+3893C=) c.901G= (p.Val301=) c.4077+3893C= (n.4077+3893C=) n.861G= | |
6 | g.131583816G>T | CA365653627 | ARG1,MED23 | c.877G>T (p.Val293Leu) c.619G>T (p.Val207Leu) c.823G>T (p.Val275Leu) c.*764G>T (n.*764G>T) c.622G>T (p.Val208Leu) c.4095+3893C>A (n.4095+3893C>A) c.901G>T (p.Val301Leu) c.4077+3893C>A (n.4077+3893C>A) n.861G>T | |
6 | g.131583817T>A | CA365653630 | ARG1,MED23 | c.878T>A (p.Val293Glu) c.620T>A (p.Val207Glu) c.824T>A (p.Val275Glu) c.*765T>A (n.*765T>A) c.623T>A (p.Val208Glu) c.4095+3892A>T (n.4095+3892A>T) c.902T>A (p.Val301Glu) c.4077+3892A>T (n.4077+3892A>T) n.862T>A | dbSNP gnomAD v4 |
6 | g.131583817T>C | CA365653628 | ARG1,MED23 | c.878T>C (p.Val293Ala) c.620T>C (p.Val207Ala) c.824T>C (p.Val275Ala) c.*765T>C (n.*765T>C) c.623T>C (p.Val208Ala) c.4095+3892A>G (n.4095+3892A>G) c.902T>C (p.Val301Ala) c.4077+3892A>G (n.4077+3892A>G) n.862T>C | dbSNP gnomAD v4 |
6 | g.131583817T>G | CA365653629 | ARG1,MED23 | c.878T>G (p.Val293Gly) c.620T>G (p.Val207Gly) c.824T>G (p.Val275Gly) c.*765T>G (n.*765T>G) c.623T>G (p.Val208Gly) c.4095+3892A>C (n.4095+3892A>C) c.902T>G (p.Val301Gly) c.4077+3892A>C (n.4077+3892A>C) n.862T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131583817T= | CA1664137861 | ARG1,MED23 | c.878T= (p.Val293=) c.620T= (p.Val207=) c.824T= (p.Val275=) c.*765T= (n.*765T=) c.623T= (p.Val208=) c.4095+3892A= (n.4095+3892A=) c.902T= (p.Val301=) c.4077+3892A= (n.4077+3892A=) n.862T= | |
6 | g.131583818G>A | CA452153327 | ARG1,MED23 | c.879G>A (p.Val293=) c.621G>A (p.Val207=) c.825G>A (p.Val275=) c.*766G>A (n.*766G>A) c.624G>A (p.Val208=) c.4095+3891C>T (n.4095+3891C>T) c.903G>A (p.Val301=) c.4077+3891C>T (n.4077+3891C>T) n.863G>A | |
6 | g.131583818G>C | CA3999398 | ARG1,MED23 | c.879G>C (p.Val293=) c.621G>C (p.Val207=) c.825G>C (p.Val275=) c.*766G>C (n.*766G>C) c.624G>C (p.Val208=) c.4095+3891C>G (n.4095+3891C>G) c.903G>C (p.Val301=) c.4077+3891C>G (n.4077+3891C>G) n.863G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583818G= | CA1664137865 | ARG1,MED23 | c.879G= (p.Val293=) c.621G= (p.Val207=) c.825G= (p.Val275=) c.*766G= (n.*766G=) c.624G= (p.Val208=) c.4095+3891C= (n.4095+3891C=) c.903G= (p.Val301=) c.4077+3891C= (n.4077+3891C=) n.863G= | |
6 | g.131583818G>T | CA452153328 | ARG1,MED23 | c.879G>T (p.Val293=) c.621G>T (p.Val207=) c.825G>T (p.Val275=) c.*766G>T (n.*766G>T) c.624G>T (p.Val208=) c.4095+3891C>A (n.4095+3891C>A) c.903G>T (p.Val301=) c.4077+3891C>A (n.4077+3891C>A) n.863G>T | |
6 | g.131583819A>C | CA365653631 | ARG1,MED23 | c.880A>C (p.Asn294His) c.622A>C (p.Asn208His) c.826A>C (p.Asn276His) c.*767A>C (n.*767A>C) c.625A>C (p.Asn209His) c.4095+3890T>G (n.4095+3890T>G) c.904A>C (p.Asn302His) c.4077+3890T>G (n.4077+3890T>G) n.864A>C | |
6 | g.131583819A>G | CA365653632 | ARG1,MED23 | c.880A>G (p.Asn294Asp) c.622A>G (p.Asn208Asp) c.826A>G (p.Asn276Asp) c.*767A>G (n.*767A>G) c.625A>G (p.Asn209Asp) c.4095+3890T>C (n.4095+3890T>C) c.904A>G (p.Asn302Asp) c.4077+3890T>C (n.4077+3890T>C) n.864A>G | |
6 | g.131583819A>T | CA365653633 | ARG1,MED23 | c.880A>T (p.Asn294Tyr) c.622A>T (p.Asn208Tyr) c.826A>T (p.Asn276Tyr) c.*767A>T (n.*767A>T) c.625A>T (p.Asn209Tyr) c.4095+3890T>A (n.4095+3890T>A) c.904A>T (p.Asn302Tyr) c.4077+3890T>A (n.4077+3890T>A) n.864A>T | |
6 | g.131583820A>C | CA365653634 | ARG1,MED23 | c.881A>C (p.Asn294Thr) c.623A>C (p.Asn208Thr) c.827A>C (p.Asn276Thr) c.*768A>C (n.*768A>C) c.626A>C (p.Asn209Thr) c.4095+3889T>G (n.4095+3889T>G) c.905A>C (p.Asn302Thr) c.4077+3889T>G (n.4077+3889T>G) n.865A>C | |
6 | g.131583820A>G | CA365653635 | ARG1,MED23 | c.881A>G (p.Asn294Ser) c.623A>G (p.Asn208Ser) c.827A>G (p.Asn276Ser) c.*768A>G (n.*768A>G) c.626A>G (p.Asn209Ser) c.4095+3889T>C (n.4095+3889T>C) c.905A>G (p.Asn302Ser) c.4077+3889T>C (n.4077+3889T>C) n.865A>G | COSMIC |
6 | g.131583820A>T | CA365653636 | ARG1,MED23 | c.881A>T (p.Asn294Ile) c.623A>T (p.Asn208Ile) c.827A>T (p.Asn276Ile) c.*768A>T (n.*768A>T) c.626A>T (p.Asn209Ile) c.4095+3889T>A (n.4095+3889T>A) c.905A>T (p.Asn302Ile) c.4077+3889T>A (n.4077+3889T>A) n.865A>T | |
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 |
6 | g.131583835T>G | CA365653663 | ARG1,MED23 | c.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 | |
6 | g.131583835T= | CA1664137884 | ARG1,MED23 | c.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= | |
6 | g.131583836A= | CA1664137887 | ARG1,MED23 | c.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= | |
6 | g.131583836A>C | CA452153341 | ARG1,MED23 | c.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 | |
6 | g.131583836A>G | CA365653664 | ARG1,MED23 | c.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 | |
6 | g.131583836A>T | CA452153342 | ARG1,MED23 | c.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 | |
6 | g.131583837A>C | CA365653665 | ARG1,MED23 | c.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 | |
6 | g.131583837A>G | CA365653666 | ARG1,MED23 | c.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 | |
6 | g.131583837A>T | CA365653667 | ARG1,MED23 | c.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 | |
6 | g.131583837_131583838insTGTAATTTATAAAATAGTTGA | CA1664137890 | ARG1,MED23 | c.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 |
6 | g.131583837_131583839delinsACC | CA1664137889 | ARG1,MED23 | c.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 | |
6 | g.131583838C>A | CA365653668 | ARG1,MED23 | c.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 | |
6 | g.131583838C= | CA1664137894 | ARG1,MED23 | c.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= | |
6 | g.131583838C>G | CA365653669 | ARG1,MED23 | c.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 | |
6 | g.131583838C>T | CA365653670 | ARG1,MED23 | c.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 |
6 | g.131583838_131583839del | CA917861943 | ARG1,MED23 | c.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 |
6 | g.131583839C>A | CA452153343 | ARG1,MED23 | c.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 | |
6 | g.131583839C= | CA1664137897 | ARG1,MED23 | c.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= | |
6 | g.131583839C>G | CA452153344 | ARG1,MED23 | c.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 |
6 | g.131583839C>T | CA452153345 | ARG1,MED23 | c.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 | |
6 | g.131583840T>A | CA365653671 | ARG1,MED23 | c.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 | |
6 | g.131583840T>C | CA3999404 | ARG1,MED23 | c.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 |
6 | g.131583840T>G | CA365653672 | ARG1,MED23 | c.901T>G (p.Leu301Val) c.643T>G (p.Leu215Val) c.847T>G (p.Leu283Val) c.*788T>G (n.*788T>G) c.646T>G (p.Leu216Val) c.4095+3869A>C (n.4095+3869A>C) c.925T>G (p.Leu309Val) c.4077+3869A>C (n.4077+3869A>C) n.885T>G | |
6 | g.131583840T= | CA1664137899 | ARG1,MED23 | c.901T= (p.Leu301=) c.643T= (p.Leu215=) c.847T= (p.Leu283=) c.*788T= (n.*788T=) c.646T= (p.Leu216=) c.4095+3869A= (n.4095+3869A=) c.925T= (p.Leu309=) c.4077+3869A= (n.4077+3869A=) n.885T= | |
6 | g.131583840_131583841insGTAATTTATAAAATAGT | CA917861958 | ARG1,MED23 | c.901_902insGTAATTTATAAAATAGT (p.Leu301CysfsTer4) c.643_644insGTAATTTATAAAATAGT (p.Leu215CysfsTer4) c.847_848insGTAATTTATAAAATAGT (p.Leu283CysfsTer4) c.*788_*789insGTAATTTATAAAATAGT (n.*788_*789insGTAATTTATAAAATAGT) c.646_647insGTAATTTATAAAATAGT (p.Leu216CysfsTer4) c.4095+3869_4095+3870insCTATTTTATAAATTACA (n.4095+3869_4095+3870insCTATTTTATAAATTACA) c.925_926insGTAATTTATAAAATAGT (p.Leu309CysfsTer4) c.4077+3869_4077+3870insCTATTTTATAAATTACA (n.4077+3869_4077+3870insCTATTTTATAAATTACA) n.885_886insGTAATTTATAAAATAGT | dbSNP |
6 | g.131583841T>A | CA365653673 | ARG1,MED23 | c.902T>A (p.Leu301Ter) c.644T>A (p.Leu215Ter) c.848T>A (p.Leu283Ter) c.*789T>A (n.*789T>A) c.647T>A (p.Leu216Ter) c.4095+3868A>T (n.4095+3868A>T) c.926T>A (p.Leu309Ter) c.4077+3868A>T (n.4077+3868A>T) n.886T>A | |
6 | g.131583841T>C | CA365653675 | ARG1,MED23 | c.902T>C (p.Leu301Ser) c.644T>C (p.Leu215Ser) c.848T>C (p.Leu283Ser) c.*789T>C (n.*789T>C) c.647T>C (p.Leu216Ser) c.4095+3868A>G (n.4095+3868A>G) c.926T>C (p.Leu309Ser) c.4077+3868A>G (n.4077+3868A>G) n.886T>C | |
6 | g.131583841T>G | CA365653674 | ARG1,MED23 | c.902T>G (p.Leu301Trp) c.644T>G (p.Leu215Trp) c.848T>G (p.Leu283Trp) c.*789T>G (n.*789T>G) c.647T>G (p.Leu216Trp) c.4095+3868A>C (n.4095+3868A>C) c.926T>G (p.Leu309Trp) c.4077+3868A>C (n.4077+3868A>C) n.886T>G | |
6 | g.131583842G>A | CA452153346 | ARG1,MED23 | c.903G>A (p.Leu301=) c.645G>A (p.Leu215=) c.849G>A (p.Leu283=) c.*790G>A (n.*790G>A) c.648G>A (p.Leu216=) c.4095+3867C>T (n.4095+3867C>T) c.927G>A (p.Leu309=) c.4077+3867C>T (n.4077+3867C>T) n.887G>A | ClinVar dbSNP |
6 | g.131583842G>C | CA365653676 | ARG1,MED23 | c.903G>C (p.Leu301Phe) c.645G>C (p.Leu215Phe) c.849G>C (p.Leu283Phe) c.*790G>C (n.*790G>C) c.648G>C (p.Leu216Phe) c.4095+3867C>G (n.4095+3867C>G) c.927G>C (p.Leu309Phe) c.4077+3867C>G (n.4077+3867C>G) n.887G>C | |
6 | g.131583842G>T | CA365653677 | ARG1,MED23 | c.903G>T (p.Leu301Phe) c.645G>T (p.Leu215Phe) c.849G>T (p.Leu283Phe) c.*790G>T (n.*790G>T) c.648G>T (p.Leu216Phe) c.4095+3867C>A (n.4095+3867C>A) c.927G>T (p.Leu309Phe) c.4077+3867C>A (n.4077+3867C>A) n.887G>T | gnomAD v4 |
6 | g.131583843G>A | CA365653678 | ARG1,MED23 | c.904G>A (p.Ala302Thr) c.646G>A (p.Ala216Thr) c.850G>A (p.Ala284Thr) c.*791G>A (n.*791G>A) c.649G>A (p.Ala217Thr) c.4095+3866C>T (n.4095+3866C>T) c.928G>A (p.Ala310Thr) c.4077+3866C>T (n.4077+3866C>T) n.888G>A | |
6 | g.131583843G>C | CA365653679 | ARG1,MED23 | c.904G>C (p.Ala302Pro) c.646G>C (p.Ala216Pro) c.850G>C (p.Ala284Pro) c.*791G>C (n.*791G>C) c.649G>C (p.Ala217Pro) c.4095+3866C>G (n.4095+3866C>G) c.928G>C (p.Ala310Pro) c.4077+3866C>G (n.4077+3866C>G) n.888G>C | |
6 | g.131583843G>T | CA365653680 | ARG1,MED23 | c.904G>T (p.Ala302Ser) c.646G>T (p.Ala216Ser) c.850G>T (p.Ala284Ser) c.*791G>T (n.*791G>T) c.649G>T (p.Ala217Ser) c.4095+3866C>A (n.4095+3866C>A) c.928G>T (p.Ala310Ser) c.4077+3866C>A (n.4077+3866C>A) n.888G>T | |
6 | g.131583844C>A | CA365653681 | ARG1,MED23 | c.905C>A (p.Ala302Asp) c.647C>A (p.Ala216Asp) c.851C>A (p.Ala284Asp) c.*792C>A (n.*792C>A) c.650C>A (p.Ala217Asp) c.4095+3865G>T (n.4095+3865G>T) c.929C>A (p.Ala310Asp) c.4077+3865G>T (n.4077+3865G>T) n.889C>A | |
6 | g.131583844C= | CA1664137903 | ARG1,MED23 | c.905C= (p.Ala302=) c.647C= (p.Ala216=) c.851C= (p.Ala284=) c.*792C= (n.*792C=) c.650C= (p.Ala217=) c.4095+3865G= (n.4095+3865G=) c.929C= (p.Ala310=) c.4077+3865G= (n.4077+3865G=) n.889C= | |
6 | g.131583844C>G | CA365653682 | ARG1,MED23 | c.905C>G (p.Ala302Gly) c.647C>G (p.Ala216Gly) c.851C>G (p.Ala284Gly) c.*792C>G (n.*792C>G) c.650C>G (p.Ala217Gly) c.4095+3865G>C (n.4095+3865G>C) c.929C>G (p.Ala310Gly) c.4077+3865G>C (n.4077+3865G>C) n.889C>G | |
6 | g.131583844C>T | CA3999405 | ARG1,MED23 | c.905C>T (p.Ala302Val) c.647C>T (p.Ala216Val) c.851C>T (p.Ala284Val) c.*792C>T (n.*792C>T) c.650C>T (p.Ala217Val) c.4095+3865G>A (n.4095+3865G>A) c.929C>T (p.Ala310Val) c.4077+3865G>A (n.4077+3865G>A) n.889C>T | dbSNP ExAC gnomAD v2 |
6 | g.131583845T>A | CA452153347 | ARG1,MED23 | c.906T>A (p.Ala302=) c.648T>A (p.Ala216=) c.852T>A (p.Ala284=) c.*793T>A (n.*793T>A) c.651T>A (p.Ala217=) c.4095+3864A>T (n.4095+3864A>T) c.930T>A (p.Ala310=) c.4077+3864A>T (n.4077+3864A>T) n.890T>A | |
6 | g.131583845T>C | CA452153348 | ARG1,MED23 | c.906T>C (p.Ala302=) c.648T>C (p.Ala216=) c.852T>C (p.Ala284=) c.*793T>C (n.*793T>C) c.651T>C (p.Ala217=) c.4095+3864A>G (n.4095+3864A>G) c.930T>C (p.Ala310=) c.4077+3864A>G (n.4077+3864A>G) n.890T>C | |
6 | g.131583845T>G | CA452153349 | ARG1,MED23 | c.906T>G (p.Ala302=) c.648T>G (p.Ala216=) c.852T>G (p.Ala284=) c.*793T>G (n.*793T>G) c.651T>G (p.Ala217=) c.4095+3864A>C (n.4095+3864A>C) c.930T>G (p.Ala310=) c.4077+3864A>C (n.4077+3864A>C) n.890T>G | ClinVar |
6 | g.131583846T>A | CA365653683 | ARG1,MED23 | c.907T>A (p.Cys303Ser) c.649T>A (p.Cys217Ser) c.853T>A (p.Cys285Ser) c.*794T>A (n.*794T>A) c.652T>A (p.Cys218Ser) c.4095+3863A>T (n.4095+3863A>T) c.931T>A (p.Cys311Ser) c.4077+3863A>T (n.4077+3863A>T) n.891T>A | |
6 | g.131583846T>C | CA365653684 | ARG1,MED23 | c.907T>C (p.Cys303Arg) c.649T>C (p.Cys217Arg) c.853T>C (p.Cys285Arg) c.*794T>C (n.*794T>C) c.652T>C (p.Cys218Arg) c.4095+3863A>G (n.4095+3863A>G) c.931T>C (p.Cys311Arg) c.4077+3863A>G (n.4077+3863A>G) n.891T>C | |
6 | g.131583846T>G | CA3999406 | ARG1,MED23 | c.907T>G (p.Cys303Gly) c.649T>G (p.Cys217Gly) c.853T>G (p.Cys285Gly) c.*794T>G (n.*794T>G) c.652T>G (p.Cys218Gly) c.4095+3863A>C (n.4095+3863A>C) c.931T>G (p.Cys311Gly) c.4077+3863A>C (n.4077+3863A>C) n.891T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583846T= | CA1664137905 | ARG1,MED23 | c.907T= (p.Cys303=) c.649T= (p.Cys217=) c.853T= (p.Cys285=) c.*794T= (n.*794T=) c.652T= (p.Cys218=) c.4095+3863A= (n.4095+3863A=) c.931T= (p.Cys311=) c.4077+3863A= (n.4077+3863A=) n.891T= | |
6 | g.131583847G>A | CA365653685 | ARG1,MED23 | c.908G>A (p.Cys303Tyr) c.650G>A (p.Cys217Tyr) c.854G>A (p.Cys285Tyr) c.*795G>A (n.*795G>A) c.653G>A (p.Cys218Tyr) c.4095+3862C>T (n.4095+3862C>T) c.932G>A (p.Cys311Tyr) c.4077+3862C>T (n.4077+3862C>T) n.892G>A | gnomAD v4 |
6 | g.131583847G>C | CA365653686 | ARG1,MED23 | c.908G>C (p.Cys303Ser) c.650G>C (p.Cys217Ser) c.854G>C (p.Cys285Ser) c.*795G>C (n.*795G>C) c.653G>C (p.Cys218Ser) c.4095+3862C>G (n.4095+3862C>G) c.932G>C (p.Cys311Ser) c.4077+3862C>G (n.4077+3862C>G) n.892G>C | gnomAD v4 |
6 | g.131583847G>T | CA365653687 | ARG1,MED23 | c.908G>T (p.Cys303Phe) c.650G>T (p.Cys217Phe) c.854G>T (p.Cys285Phe) c.*795G>T (n.*795G>T) c.653G>T (p.Cys218Phe) c.4095+3862C>A (n.4095+3862C>A) c.932G>T (p.Cys311Phe) c.4077+3862C>A (n.4077+3862C>A) n.892G>T | |
6 | g.131583848T>A | CA365653688 | ARG1,MED23 | c.909T>A (p.Cys303Ter) c.651T>A (p.Cys217Ter) c.855T>A (p.Cys285Ter) c.*796T>A (n.*796T>A) c.654T>A (p.Cys218Ter) c.4095+3861A>T (n.4095+3861A>T) c.933T>A (p.Cys311Ter) c.4077+3861A>T (n.4077+3861A>T) n.893T>A | |
6 | g.131583848T>C | CA452153350 | ARG1,MED23 | c.909T>C (p.Cys303=) c.651T>C (p.Cys217=) c.855T>C (p.Cys285=) c.*796T>C (n.*796T>C) c.654T>C (p.Cys218=) c.4095+3861A>G (n.4095+3861A>G) c.933T>C (p.Cys311=) c.4077+3861A>G (n.4077+3861A>G) n.893T>C | |
6 | g.131583848T>G | CA365653689 | ARG1,MED23 | c.909T>G (p.Cys303Trp) c.651T>G (p.Cys217Trp) c.855T>G (p.Cys285Trp) c.*796T>G (n.*796T>G) c.654T>G (p.Cys218Trp) c.4095+3861A>C (n.4095+3861A>C) c.933T>G (p.Cys311Trp) c.4077+3861A>C (n.4077+3861A>C) n.893T>G | |
6 | g.131583849T>A | CA365653690 | ARG1,MED23 | c.910T>A (p.Phe304Ile) c.652T>A (p.Phe218Ile) c.856T>A (p.Phe286Ile) c.*797T>A (n.*797T>A) c.655T>A (p.Phe219Ile) c.4095+3860A>T (n.4095+3860A>T) c.934T>A (p.Phe312Ile) c.4077+3860A>T (n.4077+3860A>T) n.894T>A | |
6 | g.131583849T>C | CA365653691 | ARG1,MED23 | c.910T>C (p.Phe304Leu) c.652T>C (p.Phe218Leu) c.856T>C (p.Phe286Leu) c.*797T>C (n.*797T>C) c.655T>C (p.Phe219Leu) c.4095+3860A>G (n.4095+3860A>G) c.934T>C (p.Phe312Leu) c.4077+3860A>G (n.4077+3860A>G) n.894T>C | |
6 | g.131583849T>G | CA365653692 | ARG1,MED23 | c.910T>G (p.Phe304Val) c.652T>G (p.Phe218Val) c.856T>G (p.Phe286Val) c.*797T>G (n.*797T>G) c.655T>G (p.Phe219Val) c.4095+3860A>C (n.4095+3860A>C) c.934T>G (p.Phe312Val) c.4077+3860A>C (n.4077+3860A>C) n.894T>G | |
6 | g.131583850T>A | CA365653693 | ARG1,MED23 | c.911T>A (p.Phe304Tyr) c.653T>A (p.Phe218Tyr) c.857T>A (p.Phe286Tyr) c.*798T>A (n.*798T>A) c.656T>A (p.Phe219Tyr) c.4095+3859A>T (n.4095+3859A>T) c.935T>A (p.Phe312Tyr) c.4077+3859A>T (n.4077+3859A>T) n.895T>A | |
6 | g.131583850T>C | CA365653694 | ARG1,MED23 | c.911T>C (p.Phe304Ser) c.653T>C (p.Phe218Ser) c.857T>C (p.Phe286Ser) c.*798T>C (n.*798T>C) c.656T>C (p.Phe219Ser) c.4095+3859A>G (n.4095+3859A>G) c.935T>C (p.Phe312Ser) c.4077+3859A>G (n.4077+3859A>G) n.895T>C | |
6 | g.131583850T>G | CA365653695 | ARG1,MED23 | c.911T>G (p.Phe304Cys) c.653T>G (p.Phe218Cys) c.857T>G (p.Phe286Cys) c.*798T>G (n.*798T>G) c.656T>G (p.Phe219Cys) c.4095+3859A>C (n.4095+3859A>C) c.935T>G (p.Phe312Cys) c.4077+3859A>C (n.4077+3859A>C) n.895T>G | |
6 | g.131583851C>A | CA365653696 | ARG1,MED23 | c.912C>A (p.Phe304Leu) c.654C>A (p.Phe218Leu) c.858C>A (p.Phe286Leu) c.*799C>A (n.*799C>A) c.657C>A (p.Phe219Leu) c.4095+3858G>T (n.4095+3858G>T) c.936C>A (p.Phe312Leu) c.4077+3858G>T (n.4077+3858G>T) n.896C>A | gnomAD v4 |
6 | g.131583851C= | CA1664137910 | ARG1,MED23 | c.912C= (p.Phe304=) c.654C= (p.Phe218=) c.858C= (p.Phe286=) c.*799C= (n.*799C=) c.657C= (p.Phe219=) c.4095+3858G= (n.4095+3858G=) c.936C= (p.Phe312=) c.4077+3858G= (n.4077+3858G=) n.896C= | |
6 | g.131583851C>G | CA365653697 | ARG1,MED23 | c.912C>G (p.Phe304Leu) c.654C>G (p.Phe218Leu) c.858C>G (p.Phe286Leu) c.*799C>G (n.*799C>G) c.657C>G (p.Phe219Leu) c.4095+3858G>C (n.4095+3858G>C) c.936C>G (p.Phe312Leu) c.4077+3858G>C (n.4077+3858G>C) n.896C>G | |
6 | g.131583851C>T | CA3999407 | ARG1,MED23 | c.912C>T (p.Phe304=) c.654C>T (p.Phe218=) c.858C>T (p.Phe286=) c.*799C>T (n.*799C>T) c.657C>T (p.Phe219=) c.4095+3858G>A (n.4095+3858G>A) c.936C>T (p.Phe312=) c.4077+3858G>A (n.4077+3858G>A) n.896C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583852G>A | CA147898930 | ARG1,MED23 | c.913G>A (p.Gly305Arg) c.655G>A (p.Gly219Arg) c.859G>A (p.Gly287Arg) c.*800G>A (n.*800G>A) c.658G>A (p.Gly220Arg) c.4095+3857C>T (n.4095+3857C>T) c.937G>A (p.Gly313Arg) c.4077+3857C>T (n.4077+3857C>T) n.897G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.131583852G>C | CA147898931 | ARG1,MED23 | c.913G>C (p.Gly305Arg) c.655G>C (p.Gly219Arg) c.859G>C (p.Gly287Arg) c.*800G>C (n.*800G>C) c.658G>C (p.Gly220Arg) c.4095+3857C>G (n.4095+3857C>G) c.937G>C (p.Gly313Arg) c.4077+3857C>G (n.4077+3857C>G) n.897G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583852G= | CA1664137920 | ARG1,MED23 | c.913G= (p.Gly305=) c.655G= (p.Gly219=) c.859G= (p.Gly287=) c.*800G= (n.*800G=) c.658G= (p.Gly220=) c.4095+3857C= (n.4095+3857C=) c.937G= (p.Gly313=) c.4077+3857C= (n.4077+3857C=) n.897G= | |
6 | g.131583852G>T | CA365653698 | ARG1,MED23 | c.913G>T (p.Gly305Ter) c.655G>T (p.Gly219Ter) c.859G>T (p.Gly287Ter) c.*800G>T (n.*800G>T) c.658G>T (p.Gly220Ter) c.4095+3857C>A (n.4095+3857C>A) c.937G>T (p.Gly313Ter) c.4077+3857C>A (n.4077+3857C>A) n.897G>T | |
6 | g.131583853G>A | CA365653701 | ARG1,MED23 | c.914G>A (p.Gly305Glu) c.656G>A (p.Gly219Glu) c.860G>A (p.Gly287Glu) c.*801G>A (n.*801G>A) c.659G>A (p.Gly220Glu) c.4095+3856C>T (n.4095+3856C>T) c.938G>A (p.Gly313Glu) c.4077+3856C>T (n.4077+3856C>T) n.898G>A | |
6 | g.131583853G>C | CA365653699 | ARG1,MED23 | c.914G>C (p.Gly305Ala) c.656G>C (p.Gly219Ala) c.860G>C (p.Gly287Ala) c.*801G>C (n.*801G>C) c.659G>C (p.Gly220Ala) c.4095+3856C>G (n.4095+3856C>G) c.938G>C (p.Gly313Ala) c.4077+3856C>G (n.4077+3856C>G) n.898G>C | |
6 | g.131583853G>T | CA365653700 | ARG1,MED23 | c.914G>T (p.Gly305Val) c.656G>T (p.Gly219Val) c.860G>T (p.Gly287Val) c.*801G>T (n.*801G>T) c.659G>T (p.Gly220Val) c.4095+3856C>A (n.4095+3856C>A) c.938G>T (p.Gly313Val) c.4077+3856C>A (n.4077+3856C>A) n.898G>T | gnomAD v4 |
6 | g.131583854A= | CA1664137923 | ARG1,MED23 | c.915A= (p.Gly305=) c.657A= (p.Gly219=) c.861A= (p.Gly287=) c.*802A= (n.*802A=) c.660A= (p.Gly220=) c.4095+3855T= (n.4095+3855T=) c.939A= (p.Gly313=) c.4077+3855T= (n.4077+3855T=) n.899A= | |
6 | g.131583854A>C | CA452153351 | ARG1,MED23 | c.915A>C (p.Gly305=) c.657A>C (p.Gly219=) c.861A>C (p.Gly287=) c.*802A>C (n.*802A>C) c.660A>C (p.Gly220=) c.4095+3855T>G (n.4095+3855T>G) c.939A>C (p.Gly313=) c.4077+3855T>G (n.4077+3855T>G) n.899A>C | gnomAD v4 |
6 | g.131583854A>G | CA3999408 | ARG1,MED23 | c.915A>G (p.Gly305=) c.657A>G (p.Gly219=) c.861A>G (p.Gly287=) c.*802A>G (n.*802A>G) c.660A>G (p.Gly220=) c.4095+3855T>C (n.4095+3855T>C) c.939A>G (p.Gly313=) c.4077+3855T>C (n.4077+3855T>C) n.899A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583854A>T | CA452153352 | ARG1,MED23 | c.915A>T (p.Gly305=) c.657A>T (p.Gly219=) c.861A>T (p.Gly287=) c.*802A>T (n.*802A>T) c.660A>T (p.Gly220=) c.4095+3855T>A (n.4095+3855T>A) c.939A>T (p.Gly313=) c.4077+3855T>A (n.4077+3855T>A) n.899A>T | |
6 | g.131583855C>A | CA365653702 | ARG1,MED23 | c.916C>A (p.Leu306Ile) c.658C>A (p.Leu220Ile) c.862C>A (p.Leu288Ile) c.*803C>A (n.*803C>A) c.661C>A (p.Leu221Ile) c.4095+3854G>T (n.4095+3854G>T) c.940C>A (p.Leu314Ile) c.4077+3854G>T (n.4077+3854G>T) n.900C>A | |
6 | g.131583855C>G | CA365653703 | ARG1,MED23 | c.916C>G (p.Leu306Val) c.658C>G (p.Leu220Val) c.862C>G (p.Leu288Val) c.*803C>G (n.*803C>G) c.661C>G (p.Leu221Val) c.4095+3854G>C (n.4095+3854G>C) c.940C>G (p.Leu314Val) c.4077+3854G>C (n.4077+3854G>C) n.900C>G | |
6 | g.131583855C>T | CA365653704 | ARG1,MED23 | c.916C>T (p.Leu306Phe) c.658C>T (p.Leu220Phe) c.862C>T (p.Leu288Phe) c.*803C>T (n.*803C>T) c.661C>T (p.Leu221Phe) c.4095+3854G>A (n.4095+3854G>A) c.940C>T (p.Leu314Phe) c.4077+3854G>A (n.4077+3854G>A) n.900C>T | |
6 | g.131583856T>A | CA365653705 | ARG1,MED23 | c.917T>A (p.Leu306His) c.659T>A (p.Leu220His) c.863T>A (p.Leu288His) c.*804T>A (n.*804T>A) c.662T>A (p.Leu221His) c.4095+3853A>T (n.4095+3853A>T) c.941T>A (p.Leu314His) c.4077+3853A>T (n.4077+3853A>T) n.901T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.131583856T>C | CA365653706 | ARG1,MED23 | c.917T>C (p.Leu306Pro) c.659T>C (p.Leu220Pro) c.863T>C (p.Leu288Pro) c.*804T>C (n.*804T>C) c.662T>C (p.Leu221Pro) c.4095+3853A>G (n.4095+3853A>G) c.941T>C (p.Leu314Pro) c.4077+3853A>G (n.4077+3853A>G) n.901T>C | gnomAD v4 |
6 | g.131583856T>G | CA365653707 | ARG1,MED23 | c.917T>G (p.Leu306Arg) c.659T>G (p.Leu220Arg) c.863T>G (p.Leu288Arg) c.*804T>G (n.*804T>G) c.662T>G (p.Leu221Arg) c.4095+3853A>C (n.4095+3853A>C) c.941T>G (p.Leu314Arg) c.4077+3853A>C (n.4077+3853A>C) n.901T>G | |
6 | g.131583856T= | CA1664137927 | ARG1,MED23 | c.917T= (p.Leu306=) c.659T= (p.Leu220=) c.863T= (p.Leu288=) c.*804T= (n.*804T=) c.662T= (p.Leu221=) c.4095+3853A= (n.4095+3853A=) c.941T= (p.Leu314=) c.4077+3853A= (n.4077+3853A=) n.901T= | |
6 | g.131583857T>A | CA452153353 | ARG1,MED23 | c.918T>A (p.Leu306=) c.660T>A (p.Leu220=) c.864T>A (p.Leu288=) c.*805T>A (n.*805T>A) c.663T>A (p.Leu221=) c.4095+3852A>T (n.4095+3852A>T) c.942T>A (p.Leu314=) c.4077+3852A>T (n.4077+3852A>T) n.902T>A | |
6 | g.131583857T>C | CA452153354 | ARG1,MED23 | c.918T>C (p.Leu306=) c.660T>C (p.Leu220=) c.864T>C (p.Leu288=) c.*805T>C (n.*805T>C) c.663T>C (p.Leu221=) c.4095+3852A>G (n.4095+3852A>G) c.942T>C (p.Leu314=) c.4077+3852A>G (n.4077+3852A>G) n.902T>C | ClinVar |
6 | g.131583857T>G | CA452153355 | ARG1,MED23 | c.918T>G (p.Leu306=) c.660T>G (p.Leu220=) c.864T>G (p.Leu288=) c.*805T>G (n.*805T>G) c.663T>G (p.Leu221=) c.4095+3852A>C (n.4095+3852A>C) c.942T>G (p.Leu314=) c.4077+3852A>C (n.4077+3852A>C) n.902T>G | |
6 | g.131583858G>A | CA365653710 | ARG1,MED23 | c.919G>A (p.Ala307Thr) c.661G>A (p.Ala221Thr) c.865G>A (p.Ala289Thr) c.*806G>A (n.*806G>A) c.664G>A (p.Ala222Thr) c.4095+3851C>T (n.4095+3851C>T) c.943G>A (p.Ala315Thr) c.4077+3851C>T (n.4077+3851C>T) n.903G>A | |
6 | g.131583858G>C | CA365653708 | ARG1,MED23 | c.919G>C (p.Ala307Pro) c.661G>C (p.Ala221Pro) c.865G>C (p.Ala289Pro) c.*806G>C (n.*806G>C) c.664G>C (p.Ala222Pro) c.4095+3851C>G (n.4095+3851C>G) c.943G>C (p.Ala315Pro) c.4077+3851C>G (n.4077+3851C>G) n.903G>C | gnomAD v4 |
6 | g.131583858G>T | CA365653709 | ARG1,MED23 | c.919G>T (p.Ala307Ser) c.661G>T (p.Ala221Ser) c.865G>T (p.Ala289Ser) c.*806G>T (n.*806G>T) c.664G>T (p.Ala222Ser) c.4095+3851C>A (n.4095+3851C>A) c.943G>T (p.Ala315Ser) c.4077+3851C>A (n.4077+3851C>A) n.903G>T | |
6 | g.131583859C>A | CA365653711 | ARG1,MED23 | c.920C>A (p.Ala307Asp) c.662C>A (p.Ala221Asp) c.866C>A (p.Ala289Asp) c.*807C>A (n.*807C>A) c.665C>A (p.Ala222Asp) c.4095+3850G>T (n.4095+3850G>T) c.944C>A (p.Ala315Asp) c.4077+3850G>T (n.4077+3850G>T) n.904C>A | |
6 | g.131583859C= | CA1664137931 | ARG1,MED23 | c.920C= (p.Ala307=) c.662C= (p.Ala221=) c.866C= (p.Ala289=) c.*807C= (n.*807C=) c.665C= (p.Ala222=) c.4095+3850G= (n.4095+3850G=) c.944C= (p.Ala315=) c.4077+3850G= (n.4077+3850G=) n.904C= | |
6 | g.131583859C>G | CA365653712 | ARG1,MED23 | c.920C>G (p.Ala307Gly) c.662C>G (p.Ala221Gly) c.866C>G (p.Ala289Gly) c.*807C>G (n.*807C>G) c.665C>G (p.Ala222Gly) c.4095+3850G>C (n.4095+3850G>C) c.944C>G (p.Ala315Gly) c.4077+3850G>C (n.4077+3850G>C) n.904C>G | |
6 | g.131583859C>T | CA3999409 | ARG1,MED23 | c.920C>T (p.Ala307Val) c.662C>T (p.Ala221Val) c.866C>T (p.Ala289Val) c.*807C>T (n.*807C>T) c.665C>T (p.Ala222Val) c.4095+3850G>A (n.4095+3850G>A) c.944C>T (p.Ala315Val) c.4077+3850G>A (n.4077+3850G>A) n.904C>T | ClinVar dbSNP ExAC gnomAD v4 |
6 | g.131583860T>A | CA452153356 | ARG1,MED23 | c.921T>A (p.Ala307=) c.663T>A (p.Ala221=) c.867T>A (p.Ala289=) c.*808T>A (n.*808T>A) c.666T>A (p.Ala222=) c.4095+3849A>T (n.4095+3849A>T) c.945T>A (p.Ala315=) c.4077+3849A>T (n.4077+3849A>T) n.905T>A | |
6 | g.131583860T>C | CA452153357 | ARG1,MED23 | c.921T>C (p.Ala307=) c.663T>C (p.Ala221=) c.867T>C (p.Ala289=) c.*808T>C (n.*808T>C) c.666T>C (p.Ala222=) c.4095+3849A>G (n.4095+3849A>G) c.945T>C (p.Ala315=) c.4077+3849A>G (n.4077+3849A>G) n.905T>C | |
6 | g.131583860T>G | CA452153358 | ARG1,MED23 | c.921T>G (p.Ala307=) c.663T>G (p.Ala221=) c.867T>G (p.Ala289=) c.*808T>G (n.*808T>G) c.666T>G (p.Ala222=) c.4095+3849A>C (n.4095+3849A>C) c.945T>G (p.Ala315=) c.4077+3849A>C (n.4077+3849A>C) n.905T>G | |
6 | g.131583861_131583883del | CA2541427118 | ARG1,MED23 | c.922_944del (p.Arg308Ter) c.664_686del (p.Arg222Ter) c.868_890del (p.Arg290Ter) c.*809_*831del (n.*809_*831del) c.667_689del (p.Arg223Ter) c.4095+3827_4095+3849del (n.4095+3827_4095+3849del) c.946_968del (p.Arg316Ter) c.4077+3827_4077+3849del (n.4077+3827_4077+3849del) n.906_928del | |
6 | g.131583861C>A | CA452153359 | ARG1,MED23 | c.922C>A (p.Arg308=) c.664C>A (p.Arg222=) c.868C>A (p.Arg290=) c.*809C>A (n.*809C>A) c.667C>A (p.Arg223=) c.4095+3848G>T (n.4095+3848G>T) c.946C>A (p.Arg316=) c.4077+3848G>T (n.4077+3848G>T) n.906C>A | |
6 | g.131583861C= | CA1664137933 | ARG1,MED23 | c.922C= (p.Arg308=) c.664C= (p.Arg222=) c.868C= (p.Arg290=) c.*809C= (n.*809C=) c.667C= (p.Arg223=) c.4095+3848G= (n.4095+3848G=) c.946C= (p.Arg316=) c.4077+3848G= (n.4077+3848G=) n.906C= | |
6 | g.131583861C>G | CA365653713 | ARG1,MED23 | c.922C>G (p.Arg308Gly) c.664C>G (p.Arg222Gly) c.868C>G (p.Arg290Gly) c.*809C>G (n.*809C>G) c.667C>G (p.Arg223Gly) c.4095+3848G>C (n.4095+3848G>C) c.946C>G (p.Arg316Gly) c.4077+3848G>C (n.4077+3848G>C) n.906C>G | |
6 | g.131583861C>T | CA147898933 | ARG1,MED23 | c.922C>T (p.Arg308Trp) c.664C>T (p.Arg222Trp) c.868C>T (p.Arg290Trp) c.*809C>T (n.*809C>T) c.667C>T (p.Arg223Trp) c.4095+3848G>A (n.4095+3848G>A) c.946C>T (p.Arg316Trp) c.4077+3848G>A (n.4077+3848G>A) n.906C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583862G>A | CA3999410 | ARG1,MED23 | c.923G>A (p.Arg308Gln) c.665G>A (p.Arg222Gln) c.869G>A (p.Arg290Gln) c.*810G>A (n.*810G>A) c.668G>A (p.Arg223Gln) c.4095+3847C>T (n.4095+3847C>T) c.947G>A (p.Arg316Gln) c.4077+3847C>T (n.4077+3847C>T) n.907G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583862G>C | CA365653715 | ARG1,MED23 | c.923G>C (p.Arg308Pro) c.665G>C (p.Arg222Pro) c.869G>C (p.Arg290Pro) c.*810G>C (n.*810G>C) c.668G>C (p.Arg223Pro) c.4095+3847C>G (n.4095+3847C>G) c.947G>C (p.Arg316Pro) c.4077+3847C>G (n.4077+3847C>G) n.907G>C | |
6 | g.131583862G= | CA1664137938 | ARG1,MED23 | c.923G= (p.Arg308=) c.665G= (p.Arg222=) c.869G= (p.Arg290=) c.*810G= (n.*810G=) c.668G= (p.Arg223=) c.4095+3847C= (n.4095+3847C=) c.947G= (p.Arg316=) c.4077+3847C= (n.4077+3847C=) n.907G= | |
6 | g.131583862G>T | CA365653714 | ARG1,MED23 | c.923G>T (p.Arg308Leu) c.665G>T (p.Arg222Leu) c.869G>T (p.Arg290Leu) c.*810G>T (n.*810G>T) c.668G>T (p.Arg223Leu) c.4095+3847C>A (n.4095+3847C>A) c.947G>T (p.Arg316Leu) c.4077+3847C>A (n.4077+3847C>A) n.907G>T | dbSNP |
6 | g.131583863G>A | CA452153360 | ARG1,MED23 | c.924G>A (p.Arg308=) c.666G>A (p.Arg222=) c.870G>A (p.Arg290=) c.*811G>A (n.*811G>A) c.669G>A (p.Arg223=) c.4095+3846C>T (n.4095+3846C>T) c.948G>A (p.Arg316=) c.4077+3846C>T (n.4077+3846C>T) n.908G>A | |
6 | g.131583863G>C | CA452153361 | ARG1,MED23 | c.924G>C (p.Arg308=) c.666G>C (p.Arg222=) c.870G>C (p.Arg290=) c.*811G>C (n.*811G>C) c.669G>C (p.Arg223=) c.4095+3846C>G (n.4095+3846C>G) c.948G>C (p.Arg316=) c.4077+3846C>G (n.4077+3846C>G) n.908G>C | |
6 | g.131583863G= | CA1664137942 | ARG1,MED23 | c.924G= (p.Arg308=) c.666G= (p.Arg222=) c.870G= (p.Arg290=) c.*811G= (n.*811G=) c.669G= (p.Arg223=) c.4095+3846C= (n.4095+3846C=) c.948G= (p.Arg316=) c.4077+3846C= (n.4077+3846C=) n.908G= | |
6 | g.131583863G>T | CA147898936 | ARG1,MED23 | c.924G>T (p.Arg308=) c.666G>T (p.Arg222=) c.870G>T (p.Arg290=) c.*811G>T (n.*811G>T) c.669G>T (p.Arg223=) c.4095+3846C>A (n.4095+3846C>A) c.948G>T (p.Arg316=) c.4077+3846C>A (n.4077+3846C>A) n.908G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583864G>A | CA3999411 | ARG1,MED23 | c.925G>A (p.Glu309Lys) c.667G>A (p.Glu223Lys) c.871G>A (p.Glu291Lys) c.*812G>A (n.*812G>A) c.670G>A (p.Glu224Lys) c.4095+3845C>T (n.4095+3845C>T) c.949G>A (p.Glu317Lys) c.4077+3845C>T (n.4077+3845C>T) n.909G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583864G>C | CA365653716 | ARG1,MED23 | c.925G>C (p.Glu309Gln) c.667G>C (p.Glu223Gln) c.871G>C (p.Glu291Gln) c.*812G>C (n.*812G>C) c.670G>C (p.Glu224Gln) c.4095+3845C>G (n.4095+3845C>G) c.949G>C (p.Glu317Gln) c.4077+3845C>G (n.4077+3845C>G) n.909G>C | gnomAD v4 |
6 | g.131583864G= | CA1664137945 | ARG1,MED23 | c.925G= (p.Glu309=) c.667G= (p.Glu223=) c.871G= (p.Glu291=) c.*812G= (n.*812G=) c.670G= (p.Glu224=) c.4095+3845C= (n.4095+3845C=) c.949G= (p.Glu317=) c.4077+3845C= (n.4077+3845C=) n.909G= | |
6 | g.131583864G>T | CA365653717 | ARG1,MED23 | c.925G>T (p.Glu309Ter) c.667G>T (p.Glu223Ter) c.871G>T (p.Glu291Ter) c.*812G>T (n.*812G>T) c.670G>T (p.Glu224Ter) c.4095+3845C>A (n.4095+3845C>A) c.949G>T (p.Glu317Ter) c.4077+3845C>A (n.4077+3845C>A) n.909G>T | |
6 | g.131583865A= | CA1664137949 | ARG1,MED23 | c.926A= (p.Glu309=) c.668A= (p.Glu223=) c.872A= (p.Glu291=) c.*813A= (n.*813A=) c.671A= (p.Glu224=) c.4095+3844T= (n.4095+3844T=) c.950A= (p.Glu317=) c.4077+3844T= (n.4077+3844T=) n.910A= | |
6 | g.131583865A>C | CA365653718 | ARG1,MED23 | c.926A>C (p.Glu309Ala) c.668A>C (p.Glu223Ala) c.872A>C (p.Glu291Ala) c.*813A>C (n.*813A>C) c.671A>C (p.Glu224Ala) c.4095+3844T>G (n.4095+3844T>G) c.950A>C (p.Glu317Ala) c.4077+3844T>G (n.4077+3844T>G) n.910A>C | |
6 | g.131583865A>G | CA3999412 | ARG1,MED23 | c.926A>G (p.Glu309Gly) c.668A>G (p.Glu223Gly) c.872A>G (p.Glu291Gly) c.*813A>G (n.*813A>G) c.671A>G (p.Glu224Gly) c.4095+3844T>C (n.4095+3844T>C) c.950A>G (p.Glu317Gly) c.4077+3844T>C (n.4077+3844T>C) n.910A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583865A>T | CA365653719 | ARG1,MED23 | c.926A>T (p.Glu309Val) c.668A>T (p.Glu223Val) c.872A>T (p.Glu291Val) c.*813A>T (n.*813A>T) c.671A>T (p.Glu224Val) c.4095+3844T>A (n.4095+3844T>A) c.950A>T (p.Glu317Val) c.4077+3844T>A (n.4077+3844T>A) n.910A>T | |
6 | g.131583866G>A | CA452153362 | ARG1,MED23 | c.927G>A (p.Glu309=) c.669G>A (p.Glu223=) c.873G>A (p.Glu291=) c.*814G>A (n.*814G>A) c.672G>A (p.Glu224=) c.4095+3843C>T (n.4095+3843C>T) c.951G>A (p.Glu317=) c.4077+3843C>T (n.4077+3843C>T) n.911G>A | ClinVar gnomAD v4 |
6 | g.131583866G>C | CA365653720 | ARG1,MED23 | c.927G>C (p.Glu309Asp) c.669G>C (p.Glu223Asp) c.873G>C (p.Glu291Asp) c.*814G>C (n.*814G>C) c.672G>C (p.Glu224Asp) c.4095+3843C>G (n.4095+3843C>G) c.951G>C (p.Glu317Asp) c.4077+3843C>G (n.4077+3843C>G) n.911G>C | |
6 | g.131583866G>T | CA365653721 | ARG1,MED23 | c.927G>T (p.Glu309Asp) c.669G>T (p.Glu223Asp) c.873G>T (p.Glu291Asp) c.*814G>T (n.*814G>T) c.672G>T (p.Glu224Asp) c.4095+3843C>A (n.4095+3843C>A) c.951G>T (p.Glu317Asp) c.4077+3843C>A (n.4077+3843C>A) n.911G>T | |
6 | g.131583867G>A | CA365653722 | ARG1,MED23 | c.928G>A (p.Gly310Ser) c.670G>A (p.Gly224Ser) c.874G>A (p.Gly292Ser) c.*815G>A (n.*815G>A) c.673G>A (p.Gly225Ser) c.4095+3842C>T (n.4095+3842C>T) c.952G>A (p.Gly318Ser) c.4077+3842C>T (n.4077+3842C>T) n.912G>A | |
6 | g.131583867G>C | CA365653723 | ARG1,MED23 | c.928G>C (p.Gly310Arg) c.670G>C (p.Gly224Arg) c.874G>C (p.Gly292Arg) c.*815G>C (n.*815G>C) c.673G>C (p.Gly225Arg) c.4095+3842C>G (n.4095+3842C>G) c.952G>C (p.Gly318Arg) c.4077+3842C>G (n.4077+3842C>G) n.912G>C | |
6 | g.131583867G= | CA1664137952 | ARG1,MED23 | c.928G= (p.Gly310=) c.670G= (p.Gly224=) c.874G= (p.Gly292=) c.*815G= (n.*815G=) c.673G= (p.Gly225=) c.4095+3842C= (n.4095+3842C=) c.952G= (p.Gly318=) c.4077+3842C= (n.4077+3842C=) n.912G= | |
6 | g.131583867G>T | CA3999413 | ARG1,MED23 | c.928G>T (p.Gly310Cys) c.670G>T (p.Gly224Cys) c.874G>T (p.Gly292Cys) c.*815G>T (n.*815G>T) c.673G>T (p.Gly225Cys) c.4095+3842C>A (n.4095+3842C>A) c.952G>T (p.Gly318Cys) c.4077+3842C>A (n.4077+3842C>A) n.912G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583868G>A | CA365653724 | ARG1,MED23 | c.929G>A (p.Gly310Asp) c.671G>A (p.Gly224Asp) c.875G>A (p.Gly292Asp) c.*816G>A (n.*816G>A) c.674G>A (p.Gly225Asp) c.4095+3841C>T (n.4095+3841C>T) c.953G>A (p.Gly318Asp) c.4077+3841C>T (n.4077+3841C>T) n.913G>A | |
6 | g.131583868G>C | CA365653726 | ARG1,MED23 | c.929G>C (p.Gly310Ala) c.671G>C (p.Gly224Ala) c.875G>C (p.Gly292Ala) c.*816G>C (n.*816G>C) c.674G>C (p.Gly225Ala) c.4095+3841C>G (n.4095+3841C>G) c.953G>C (p.Gly318Ala) c.4077+3841C>G (n.4077+3841C>G) n.913G>C | |
6 | g.131583868G>T | CA365653725 | ARG1,MED23 | c.929G>T (p.Gly310Val) c.671G>T (p.Gly224Val) c.875G>T (p.Gly292Val) c.*816G>T (n.*816G>T) c.674G>T (p.Gly225Val) c.4095+3841C>A (n.4095+3841C>A) c.953G>T (p.Gly318Val) c.4077+3841C>A (n.4077+3841C>A) n.913G>T | ClinVar |
6 | g.131583869T>A | CA452153364 | ARG1,MED23 | c.930T>A (p.Gly310=) c.672T>A (p.Gly224=) c.876T>A (p.Gly292=) c.*817T>A (n.*817T>A) c.675T>A (p.Gly225=) c.4095+3840A>T (n.4095+3840A>T) c.954T>A (p.Gly318=) c.4077+3840A>T (n.4077+3840A>T) n.914T>A | |
6 | g.131583869T>C | CA452153365 | ARG1,MED23 | c.930T>C (p.Gly310=) c.672T>C (p.Gly224=) c.876T>C (p.Gly292=) c.*817T>C (n.*817T>C) c.675T>C (p.Gly225=) c.4095+3840A>G (n.4095+3840A>G) c.954T>C (p.Gly318=) c.4077+3840A>G (n.4077+3840A>G) n.914T>C | |
6 | g.131583869T>G | CA452153363 | ARG1,MED23 | c.930T>G (p.Gly310=) c.672T>G (p.Gly224=) c.876T>G (p.Gly292=) c.*817T>G (n.*817T>G) c.675T>G (p.Gly225=) c.4095+3840A>C (n.4095+3840A>C) c.954T>G (p.Gly318=) c.4077+3840A>C (n.4077+3840A>C) n.914T>G | dbSNP |
6 | g.131583869T= | CA1664137955 | ARG1,MED23 | c.930T= (p.Gly310=) c.672T= (p.Gly224=) c.876T= (p.Gly292=) c.*817T= (n.*817T=) c.675T= (p.Gly225=) c.4095+3840A= (n.4095+3840A=) c.954T= (p.Gly318=) c.4077+3840A= (n.4077+3840A=) n.914T= | |
6 | g.131583870A>C | CA365653727 | ARG1,MED23 | c.931A>C (p.Asn311His) c.673A>C (p.Asn225His) c.877A>C (p.Asn293His) c.*818A>C (n.*818A>C) c.676A>C (p.Asn226His) c.4095+3839T>G (n.4095+3839T>G) c.955A>C (p.Asn319His) c.4077+3839T>G (n.4077+3839T>G) n.915A>C | gnomAD v4 |
6 | g.131583870A>G | CA365653728 | ARG1,MED23 | c.931A>G (p.Asn311Asp) c.673A>G (p.Asn225Asp) c.877A>G (p.Asn293Asp) c.*818A>G (n.*818A>G) c.676A>G (p.Asn226Asp) c.4095+3839T>C (n.4095+3839T>C) c.955A>G (p.Asn319Asp) c.4077+3839T>C (n.4077+3839T>C) n.915A>G | |
6 | g.131583870A>T | CA365653729 | ARG1,MED23 | c.931A>T (p.Asn311Tyr) c.673A>T (p.Asn225Tyr) c.877A>T (p.Asn293Tyr) c.*818A>T (n.*818A>T) c.676A>T (p.Asn226Tyr) c.4095+3839T>A (n.4095+3839T>A) c.955A>T (p.Asn319Tyr) c.4077+3839T>A (n.4077+3839T>A) n.915A>T | |
6 | g.131583871A= | CA1664137958 | ARG1,MED23 | c.932A= (p.Asn311=) c.674A= (p.Asn225=) c.878A= (p.Asn293=) c.*819A= (n.*819A=) c.677A= (p.Asn226=) c.4095+3838T= (n.4095+3838T=) c.956A= (p.Asn319=) c.4077+3838T= (n.4077+3838T=) n.916A= | |
6 | g.131583871A>C | CA365653730 | ARG1,MED23 | c.932A>C (p.Asn311Thr) c.674A>C (p.Asn225Thr) c.878A>C (p.Asn293Thr) c.*819A>C (n.*819A>C) c.677A>C (p.Asn226Thr) c.4095+3838T>G (n.4095+3838T>G) c.956A>C (p.Asn319Thr) c.4077+3838T>G (n.4077+3838T>G) n.916A>C | |
6 | g.131583871A>G | CA365653731 | ARG1,MED23 | c.932A>G (p.Asn311Ser) c.674A>G (p.Asn225Ser) c.878A>G (p.Asn293Ser) c.*819A>G (n.*819A>G) c.677A>G (p.Asn226Ser) c.4095+3838T>C (n.4095+3838T>C) c.956A>G (p.Asn319Ser) c.4077+3838T>C (n.4077+3838T>C) n.916A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583871A>T | CA365653732 | ARG1,MED23 | c.932A>T (p.Asn311Ile) c.674A>T (p.Asn225Ile) c.878A>T (p.Asn293Ile) c.*819A>T (n.*819A>T) c.677A>T (p.Asn226Ile) c.4095+3838T>A (n.4095+3838T>A) c.956A>T (p.Asn319Ile) c.4077+3838T>A (n.4077+3838T>A) n.916A>T | |
6 | g.131583872_131583874dup | CA2680353924 | ARG1,MED23 | c.933_935dup (p.His312_Lys313insHis) c.675_677dup (p.His226_Lys227insHis) c.879_881dup (p.His294_Lys295insHis) c.*820_*822dup (n.*820_*822dup) c.678_680dup (p.His227_Lys228insHis) c.4095+3836_4095+3838dup (n.4095+3836_4095+3838dup) c.957_959dup (p.His320_Lys321insHis) c.4077+3836_4077+3838dup (n.4077+3836_4077+3838dup) n.917_919dup | gnomAD v4 |
6 | g.131583872T>A | CA365653733 | ARG1,MED23 | c.933T>A (p.Asn311Lys) c.675T>A (p.Asn225Lys) c.879T>A (p.Asn293Lys) c.*820T>A (n.*820T>A) c.678T>A (p.Asn226Lys) c.4095+3837A>T (n.4095+3837A>T) c.957T>A (p.Asn319Lys) c.4077+3837A>T (n.4077+3837A>T) n.917T>A | |
6 | g.131583872T>C | CA452153366 | ARG1,MED23 | c.933T>C (p.Asn311=) c.675T>C (p.Asn225=) c.879T>C (p.Asn293=) c.*820T>C (n.*820T>C) c.678T>C (p.Asn226=) c.4095+3837A>G (n.4095+3837A>G) c.957T>C (p.Asn319=) c.4077+3837A>G (n.4077+3837A>G) n.917T>C | |
6 | g.131583872T>G | CA365653734 | ARG1,MED23 | c.933T>G (p.Asn311Lys) c.675T>G (p.Asn225Lys) c.879T>G (p.Asn293Lys) c.*820T>G (n.*820T>G) c.678T>G (p.Asn226Lys) c.4095+3837A>C (n.4095+3837A>C) c.957T>G (p.Asn319Lys) c.4077+3837A>C (n.4077+3837A>C) n.917T>G | |
6 | g.131583873C>A | CA365653735 | ARG1,MED23 | c.934C>A (p.His312Asn) c.676C>A (p.His226Asn) c.880C>A (p.His294Asn) c.*821C>A (n.*821C>A) c.679C>A (p.His227Asn) c.4095+3836G>T (n.4095+3836G>T) c.958C>A (p.His320Asn) c.4077+3836G>T (n.4077+3836G>T) n.918C>A | |
6 | g.131583873C= | CA1664137962 | ARG1,MED23 | c.934C= (p.His312=) c.676C= (p.His226=) c.880C= (p.His294=) c.*821C= (n.*821C=) c.679C= (p.His227=) c.4095+3836G= (n.4095+3836G=) c.958C= (p.His320=) c.4077+3836G= (n.4077+3836G=) n.918C= | |
6 | g.131583873C>G | CA365653736 | ARG1,MED23 | c.934C>G (p.His312Asp) c.676C>G (p.His226Asp) c.880C>G (p.His294Asp) c.*821C>G (n.*821C>G) c.679C>G (p.His227Asp) c.4095+3836G>C (n.4095+3836G>C) c.958C>G (p.His320Asp) c.4077+3836G>C (n.4077+3836G>C) n.918C>G | |
6 | g.131583873C>T | CA3999414 | ARG1,MED23 | c.934C>T (p.His312Tyr) c.676C>T (p.His226Tyr) c.880C>T (p.His294Tyr) c.*821C>T (n.*821C>T) c.679C>T (p.His227Tyr) c.4095+3836G>A (n.4095+3836G>A) c.958C>T (p.His320Tyr) c.4077+3836G>A (n.4077+3836G>A) n.918C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131583874A>C | CA365653737 | ARG1,MED23 | c.935A>C (p.His312Pro) c.677A>C (p.His226Pro) c.881A>C (p.His294Pro) c.*822A>C (n.*822A>C) c.680A>C (p.His227Pro) c.4095+3835T>G (n.4095+3835T>G) c.959A>C (p.His320Pro) c.4077+3835T>G (n.4077+3835T>G) n.919A>C | |
6 | g.131583874A>G | CA365653738 | ARG1,MED23 | c.935A>G (p.His312Arg) c.677A>G (p.His226Arg) c.881A>G (p.His294Arg) c.*822A>G (n.*822A>G) c.680A>G (p.His227Arg) c.4095+3835T>C (n.4095+3835T>C) c.959A>G (p.His320Arg) c.4077+3835T>C (n.4077+3835T>C) n.919A>G | |
6 | g.131583874A>T | CA365653739 | ARG1,MED23 | c.935A>T (p.His312Leu) c.677A>T (p.His226Leu) c.881A>T (p.His294Leu) c.*822A>T (n.*822A>T) c.680A>T (p.His227Leu) c.4095+3835T>A (n.4095+3835T>A) c.959A>T (p.His320Leu) c.4077+3835T>A (n.4077+3835T>A) n.919A>T | |
6 | g.131583875C>A | CA3999415 | ARG1,MED23 | c.936C>A (p.His312Gln) c.678C>A (p.His226Gln) c.882C>A (p.His294Gln) c.*823C>A (n.*823C>A) c.681C>A (p.His227Gln) c.4095+3834G>T (n.4095+3834G>T) c.960C>A (p.His320Gln) c.4077+3834G>T (n.4077+3834G>T) n.920C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.131583875C= | CA1664137968 | ARG1,MED23 | c.936C= (p.His312=) c.678C= (p.His226=) c.882C= (p.His294=) c.*823C= (n.*823C=) c.681C= (p.His227=) c.4095+3834G= (n.4095+3834G=) c.960C= (p.His320=) c.4077+3834G= (n.4077+3834G=) n.920C= | |
6 | g.131583875C>G | CA365653740 | ARG1,MED23 | c.936C>G (p.His312Gln) c.678C>G (p.His226Gln) c.882C>G (p.His294Gln) c.*823C>G (n.*823C>G) c.681C>G (p.His227Gln) c.4095+3834G>C (n.4095+3834G>C) c.960C>G (p.His320Gln) c.4077+3834G>C (n.4077+3834G>C) n.920C>G | |
6 | g.131583875C>T | CA452153367 | ARG1,MED23 | c.936C>T (p.His312=) c.678C>T (p.His226=) c.882C>T (p.His294=) c.*823C>T (n.*823C>T) c.681C>T (p.His227=) c.4095+3834G>A (n.4095+3834G>A) c.960C>T (p.His320=) c.4077+3834G>A (n.4077+3834G>A) n.920C>T | ClinVar dbSNP gnomAD v4 |
6 | g.131583875_131583876delinsCA | CA1664137972 | ARG1,MED23 | c.936_937delinsCA (p.His312=) c.678_679delinsCA (p.His226=) c.882_883delinsCA (p.His294=) c.*823_*824delinsCA (n.*823_*824delinsCA) c.681_682delinsCA (p.His227=) c.4095+3833_4095+3834delinsTG (n.4095+3833_4095+3834delinsTG) c.960_961delinsCA (p.His320=) c.4077+3833_4077+3834delinsTG (n.4077+3833_4077+3834delinsTG) n.920_921delinsCA | |
6 | g.131583876A>C | CA365653741 | ARG1,MED23 | c.937A>C (p.Lys313Gln) c.679A>C (p.Lys227Gln) c.883A>C (p.Lys295Gln) c.*824A>C (n.*824A>C) c.682A>C (p.Lys228Gln) c.4095+3833T>G (n.4095+3833T>G) c.961A>C (p.Lys321Gln) c.4077+3833T>G (n.4077+3833T>G) n.921A>C | |
6 | g.131583876A>G | CA365653742 | ARG1,MED23 | c.937A>G (p.Lys313Glu) c.679A>G (p.Lys227Glu) c.883A>G (p.Lys295Glu) c.*824A>G (n.*824A>G) c.682A>G (p.Lys228Glu) c.4095+3833T>C (n.4095+3833T>C) c.961A>G (p.Lys321Glu) c.4077+3833T>C (n.4077+3833T>C) n.921A>G | |
6 | g.131583876A>T | CA365653743 | ARG1,MED23 | c.937A>T (p.Lys313Ter) c.679A>T (p.Lys227Ter) c.883A>T (p.Lys295Ter) c.*824A>T (n.*824A>T) c.682A>T (p.Lys228Ter) c.4095+3833T>A (n.4095+3833T>A) c.961A>T (p.Lys321Ter) c.4077+3833T>A (n.4077+3833T>A) n.921A>T | |
6 | g.131583877del | CA570508601 | ARG1,MED23 | c.938del (p.Lys313SerfsTer22) c.680del (p.Lys227SerfsTer?) c.884del (p.Lys295SerfsTer22) c.*825del (n.*825del) c.683del (p.Lys228SerfsTer22) c.4095+3833del (n.4095+3833del) c.962del (p.Lys321SerfsTer22) c.4077+3833del (n.4077+3833del) n.922del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583877A>C | CA365653744 | ARG1,MED23 | c.938A>C (p.Lys313Thr) c.680A>C (p.Lys227Thr) c.884A>C (p.Lys295Thr) c.*825A>C (n.*825A>C) c.683A>C (p.Lys228Thr) c.4095+3832T>G (n.4095+3832T>G) c.962A>C (p.Lys321Thr) c.4077+3832T>G (n.4077+3832T>G) n.922A>C | |
6 | g.131583877A>G | CA365653745 | ARG1,MED23 | c.938A>G (p.Lys313Arg) c.680A>G (p.Lys227Arg) c.884A>G (p.Lys295Arg) c.*825A>G (n.*825A>G) c.683A>G (p.Lys228Arg) c.4095+3832T>C (n.4095+3832T>C) c.962A>G (p.Lys321Arg) c.4077+3832T>C (n.4077+3832T>C) n.922A>G | |
6 | g.131583877A>T | CA365653746 | ARG1,MED23 | c.938A>T (p.Lys313Met) c.680A>T (p.Lys227Met) c.884A>T (p.Lys295Met) c.*825A>T (n.*825A>T) c.683A>T (p.Lys228Met) c.4095+3832T>A (n.4095+3832T>A) c.962A>T (p.Lys321Met) c.4077+3832T>A (n.4077+3832T>A) n.922A>T | |
6 | g.131583878G>A | CA452153368 | ARG1,MED23 | c.939G>A (p.Lys313=) c.681G>A (p.Lys227=) c.885G>A (p.Lys295=) c.*826G>A (n.*826G>A) c.684G>A (p.Lys228=) c.4095+3831C>T (n.4095+3831C>T) c.963G>A (p.Lys321=) c.4077+3831C>T (n.4077+3831C>T) n.923G>A | |
6 | g.131583878G>C | CA365653747 | ARG1,MED23 | c.939G>C (p.Lys313Asn) c.681G>C (p.Lys227Asn) c.885G>C (p.Lys295Asn) c.*826G>C (n.*826G>C) c.684G>C (p.Lys228Asn) c.4095+3831C>G (n.4095+3831C>G) c.963G>C (p.Lys321Asn) c.4077+3831C>G (n.4077+3831C>G) n.923G>C | ClinVar dbSNP |
6 | g.131583878G= | CA1664137981 | ARG1,MED23 | c.939G= (p.Lys313=) c.681G= (p.Lys227=) c.885G= (p.Lys295=) c.*826G= (n.*826G=) c.684G= (p.Lys228=) c.4095+3831C= (n.4095+3831C=) c.963G= (p.Lys321=) c.4077+3831C= (n.4077+3831C=) n.923G= | |
6 | g.131583878G>T | CA365653748 | ARG1,MED23 | c.939G>T (p.Lys313Asn) c.681G>T (p.Lys227Asn) c.885G>T (p.Lys295Asn) c.*826G>T (n.*826G>T) c.684G>T (p.Lys228Asn) c.4095+3831C>A (n.4095+3831C>A) c.963G>T (p.Lys321Asn) c.4077+3831C>A (n.4077+3831C>A) n.923G>T | |
6 | g.131583879C>A | CA365653749 | ARG1,MED23 | c.940C>A (p.Pro314Thr) c.682C>A (p.Pro228Thr) c.886C>A (p.Pro296Thr) c.*827C>A (n.*827C>A) c.685C>A (p.Pro229Thr) c.4095+3830G>T (n.4095+3830G>T) c.964C>A (p.Pro322Thr) c.4077+3830G>T (n.4077+3830G>T) n.924C>A | |
6 | g.131583879C>G | CA365653750 | ARG1,MED23 | c.940C>G (p.Pro314Ala) c.682C>G (p.Pro228Ala) c.886C>G (p.Pro296Ala) c.*827C>G (n.*827C>G) c.685C>G (p.Pro229Ala) c.4095+3830G>C (n.4095+3830G>C) c.964C>G (p.Pro322Ala) c.4077+3830G>C (n.4077+3830G>C) n.924C>G | |
6 | g.131583879C>T | CA365653751 | ARG1,MED23 | c.940C>T (p.Pro314Ser) c.682C>T (p.Pro228Ser) c.886C>T (p.Pro296Ser) c.*827C>T (n.*827C>T) c.685C>T (p.Pro229Ser) c.4095+3830G>A (n.4095+3830G>A) c.964C>T (p.Pro322Ser) c.4077+3830G>A (n.4077+3830G>A) n.924C>T | |
6 | g.131583880C>A | CA365653752 | ARG1,MED23 | c.941C>A (p.Pro314His) c.683C>A (p.Pro228His) c.887C>A (p.Pro296His) c.*828C>A (n.*828C>A) c.686C>A (p.Pro229His) c.4095+3829G>T (n.4095+3829G>T) c.965C>A (p.Pro322His) c.4077+3829G>T (n.4077+3829G>T) n.925C>A | |
6 | g.131583880C= | CA1664137983 | ARG1,MED23 | c.941C= (p.Pro314=) c.683C= (p.Pro228=) c.887C= (p.Pro296=) c.*828C= (n.*828C=) c.686C= (p.Pro229=) c.4095+3829G= (n.4095+3829G=) c.965C= (p.Pro322=) c.4077+3829G= (n.4077+3829G=) n.925C= | |
6 | g.131583880C>G | CA365653754 | ARG1,MED23 | c.941C>G (p.Pro314Arg) c.683C>G (p.Pro228Arg) c.887C>G (p.Pro296Arg) c.*828C>G (n.*828C>G) c.686C>G (p.Pro229Arg) c.4095+3829G>C (n.4095+3829G>C) c.965C>G (p.Pro322Arg) c.4077+3829G>C (n.4077+3829G>C) n.925C>G | |
6 | g.131583880C>T | CA365653753 | ARG1,MED23 | c.941C>T (p.Pro314Leu) c.683C>T (p.Pro228Leu) c.887C>T (p.Pro296Leu) c.*828C>T (n.*828C>T) c.686C>T (p.Pro229Leu) c.4095+3829G>A (n.4095+3829G>A) c.965C>T (p.Pro322Leu) c.4077+3829G>A (n.4077+3829G>A) n.925C>T | dbSNP gnomAD v4 |
6 | g.131583881T>A | CA452153369 | ARG1,MED23 | c.942T>A (p.Pro314=) c.684T>A (p.Pro228=) c.888T>A (p.Pro296=) c.*829T>A (n.*829T>A) c.687T>A (p.Pro229=) c.4095+3828A>T (n.4095+3828A>T) c.966T>A (p.Pro322=) c.4077+3828A>T (n.4077+3828A>T) n.926T>A | |
6 | g.131583881T>C | CA452153371 | ARG1,MED23 | c.942T>C (p.Pro314=) c.684T>C (p.Pro228=) c.888T>C (p.Pro296=) c.*829T>C (n.*829T>C) c.687T>C (p.Pro229=) c.4095+3828A>G (n.4095+3828A>G) c.966T>C (p.Pro322=) c.4077+3828A>G (n.4077+3828A>G) n.926T>C | |
6 | g.131583881T>G | CA452153372 | ARG1,MED23 | c.942T>G (p.Pro314=) c.684T>G (p.Pro228=) c.888T>G (p.Pro296=) c.*829T>G (n.*829T>G) c.687T>G (p.Pro229=) c.4095+3828A>C (n.4095+3828A>C) c.966T>G (p.Pro322=) c.4077+3828A>C (n.4077+3828A>C) n.926T>G | |
6 | g.131583882A= | CA1664137985 | ARG1,MED23 | c.943A= (p.Ile315=) c.685A= (p.Ile229=) c.889A= (p.Ile297=) c.*830A= (n.*830A=) c.688A= (p.Ile230=) c.4095+3827T= (n.4095+3827T=) c.967A= (p.Ile323=) c.4077+3827T= (n.4077+3827T=) n.927A= | |
6 | g.131583882A>C | CA365653755 | ARG1,MED23 | c.943A>C (p.Ile315Leu) c.685A>C (p.Ile229Leu) c.889A>C (p.Ile297Leu) c.*830A>C (n.*830A>C) c.688A>C (p.Ile230Leu) c.4095+3827T>G (n.4095+3827T>G) c.967A>C (p.Ile323Leu) c.4077+3827T>G (n.4077+3827T>G) n.927A>C | |
6 | g.131583882A>G | CA365653757 | ARG1,MED23 | c.943A>G (p.Ile315Val) c.685A>G (p.Ile229Val) c.889A>G (p.Ile297Val) c.*830A>G (n.*830A>G) c.688A>G (p.Ile230Val) c.4095+3827T>C (n.4095+3827T>C) c.967A>G (p.Ile323Val) c.4077+3827T>C (n.4077+3827T>C) n.927A>G | ClinVar dbSNP gnomAD v4 |
6 | g.131583882A>T | CA365653756 | ARG1,MED23 | c.943A>T (p.Ile315Phe) c.685A>T (p.Ile229Phe) c.889A>T (p.Ile297Phe) c.*830A>T (n.*830A>T) c.688A>T (p.Ile230Phe) c.4095+3827T>A (n.4095+3827T>A) c.967A>T (p.Ile323Phe) c.4077+3827T>A (n.4077+3827T>A) n.927A>T | |
6 | g.131583882dup | CA913109530 | ARG1,MED23 | c.943dup (p.Ile315AsnfsTer2) c.685dup (p.Ile229AsnfsTer2) c.889dup (p.Ile297AsnfsTer2) c.*830dup (n.*830dup) c.688dup (p.Ile230AsnfsTer2) c.4095+3827dup (n.4095+3827dup) c.967dup (p.Ile323AsnfsTer2) c.4077+3827dup (n.4077+3827dup) n.927dup | |
6 | g.131583883T>A | CA365653758 | ARG1,MED23 | c.944T>A (p.Ile315Asn) c.686T>A (p.Ile229Asn) c.890T>A (p.Ile297Asn) c.*831T>A (n.*831T>A) c.689T>A (p.Ile230Asn) c.4095+3826A>T (n.4095+3826A>T) c.968T>A (p.Ile323Asn) c.4077+3826A>T (n.4077+3826A>T) n.928T>A | |
6 | g.131583883T>C | CA3999416 | ARG1,MED23 | c.944T>C (p.Ile315Thr) c.686T>C (p.Ile229Thr) c.890T>C (p.Ile297Thr) c.*831T>C (n.*831T>C) c.689T>C (p.Ile230Thr) c.4095+3826A>G (n.4095+3826A>G) c.968T>C (p.Ile323Thr) c.4077+3826A>G (n.4077+3826A>G) n.928T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583883T>G | CA365653759 | ARG1,MED23 | c.944T>G (p.Ile315Ser) c.686T>G (p.Ile229Ser) c.890T>G (p.Ile297Ser) c.*831T>G (n.*831T>G) c.689T>G (p.Ile230Ser) c.4095+3826A>C (n.4095+3826A>C) c.968T>G (p.Ile323Ser) c.4077+3826A>C (n.4077+3826A>C) n.928T>G | |
6 | g.131583883T= | CA1664137989 | ARG1,MED23 | c.944T= (p.Ile315=) c.686T= (p.Ile229=) c.890T= (p.Ile297=) c.*831T= (n.*831T=) c.689T= (p.Ile230=) c.4095+3826A= (n.4095+3826A=) c.968T= (p.Ile323=) c.4077+3826A= (n.4077+3826A=) n.928T= | |
6 | g.131583884dup | CA658821329 | ARG1,MED23 | c.945dup (p.Asp316Ter) c.687dup (p.Asp230Ter) c.891dup (p.Asp298Ter) c.*832dup (n.*832dup) c.690dup (p.Asp231Ter) c.4095+3826dup (n.4095+3826dup) c.969dup (p.Asp324Ter) c.4077+3826dup (n.4077+3826dup) n.929dup | ClinVar dbSNP gnomAD v4 |
6 | g.131583884T>A | CA452153374 | ARG1,MED23 | c.945T>A (p.Ile315=) c.687T>A (p.Ile229=) c.891T>A (p.Ile297=) c.*832T>A (n.*832T>A) c.690T>A (p.Ile230=) c.4095+3825A>T (n.4095+3825A>T) c.969T>A (p.Ile323=) c.4077+3825A>T (n.4077+3825A>T) n.929T>A | |
6 | g.131583884T>C | CA452153375 | ARG1,MED23 | c.945T>C (p.Ile315=) c.687T>C (p.Ile229=) c.891T>C (p.Ile297=) c.*832T>C (n.*832T>C) c.690T>C (p.Ile230=) c.4095+3825A>G (n.4095+3825A>G) c.969T>C (p.Ile323=) c.4077+3825A>G (n.4077+3825A>G) n.929T>C | |
6 | g.131583884T>G | CA365653760 | ARG1,MED23 | c.945T>G (p.Ile315Met) c.687T>G (p.Ile229Met) c.891T>G (p.Ile297Met) c.*832T>G (n.*832T>G) c.690T>G (p.Ile230Met) c.4095+3825A>C (n.4095+3825A>C) c.969T>G (p.Ile323Met) c.4077+3825A>C (n.4077+3825A>C) n.929T>G | |
6 | g.131583885G>A | CA147898977 | ARG1,MED23 | c.946G>A (p.Asp316Asn) c.688G>A (p.Asp230Asn) c.892G>A (p.Asp298Asn) c.*833G>A (n.*833G>A) c.691G>A (p.Asp231Asn) c.4095+3824C>T (n.4095+3824C>T) c.970G>A (p.Asp324Asn) c.4077+3824C>T (n.4077+3824C>T) n.930G>A | dbSNP gnomAD v4 |
6 | g.131583885G>C | CA365653761 | ARG1,MED23 | c.946G>C (p.Asp316His) c.688G>C (p.Asp230His) c.892G>C (p.Asp298His) c.*833G>C (n.*833G>C) c.691G>C (p.Asp231His) c.4095+3824C>G (n.4095+3824C>G) c.970G>C (p.Asp324His) c.4077+3824C>G (n.4077+3824C>G) n.930G>C | |
6 | g.131583885G= | CA1664137997 | ARG1,MED23 | c.946G= (p.Asp316=) c.688G= (p.Asp230=) c.892G= (p.Asp298=) c.*833G= (n.*833G=) c.691G= (p.Asp231=) c.4095+3824C= (n.4095+3824C=) c.970G= (p.Asp324=) c.4077+3824C= (n.4077+3824C=) n.930G= | |
6 | g.131583885G>T | CA365653762 | ARG1,MED23 | c.946G>T (p.Asp316Tyr) c.688G>T (p.Asp230Tyr) c.892G>T (p.Asp298Tyr) c.*833G>T (n.*833G>T) c.691G>T (p.Asp231Tyr) c.4095+3824C>A (n.4095+3824C>A) c.970G>T (p.Asp324Tyr) c.4077+3824C>A (n.4077+3824C>A) n.930G>T | |
6 | g.131583886A>C | CA365653763 | ARG1,MED23 | c.947A>C (p.Asp316Ala) c.689A>C (p.Asp230Ala) c.893A>C (p.Asp298Ala) c.*834A>C (n.*834A>C) c.692A>C (p.Asp231Ala) c.4095+3823T>G (n.4095+3823T>G) c.971A>C (p.Asp324Ala) c.4077+3823T>G (n.4077+3823T>G) n.931A>C | |
6 | g.131583886A>G | CA365653764 | ARG1,MED23 | c.947A>G (p.Asp316Gly) c.689A>G (p.Asp230Gly) c.893A>G (p.Asp298Gly) c.*834A>G (n.*834A>G) c.692A>G (p.Asp231Gly) c.4095+3823T>C (n.4095+3823T>C) c.971A>G (p.Asp324Gly) c.4077+3823T>C (n.4077+3823T>C) n.931A>G | |
6 | g.131583886A>T | CA365653765 | ARG1,MED23 | c.947A>T (p.Asp316Val) c.689A>T (p.Asp230Val) c.893A>T (p.Asp298Val) c.*834A>T (n.*834A>T) c.692A>T (p.Asp231Val) c.4095+3823T>A (n.4095+3823T>A) c.971A>T (p.Asp324Val) c.4077+3823T>A (n.4077+3823T>A) n.931A>T | |
6 | g.131583888_131583896del | CA2521797639 | ARG1,MED23 | c.949_957del (p.Tyr317_Asn319del) c.691_699del (p.Tyr231_Asn233del) c.895_903del (p.Tyr299_Asn301del) c.*836_*844del (n.*836_*844del) c.694_702del (p.Tyr232_Asn234del) c.4095+3815_4095+3823del (n.4095+3815_4095+3823del) c.973_981del (p.Tyr325_Asn327del) c.4077+3815_4077+3823del (n.4077+3815_4077+3823del) n.933_941del | |
6 | g.131583887C>A | CA365653766 | ARG1,MED23 | c.948C>A (p.Asp316Glu) c.690C>A (p.Asp230Glu) c.894C>A (p.Asp298Glu) c.*835C>A (n.*835C>A) c.693C>A (p.Asp231Glu) c.4095+3822G>T (n.4095+3822G>T) c.972C>A (p.Asp324Glu) c.4077+3822G>T (n.4077+3822G>T) n.932C>A | |
6 | g.131583887C>G | CA365653767 | ARG1,MED23 | c.948C>G (p.Asp316Glu) c.690C>G (p.Asp230Glu) c.894C>G (p.Asp298Glu) c.*835C>G (n.*835C>G) c.693C>G (p.Asp231Glu) c.4095+3822G>C (n.4095+3822G>C) c.972C>G (p.Asp324Glu) c.4077+3822G>C (n.4077+3822G>C) n.932C>G | |
6 | g.131583887C>T | CA452153380 | ARG1,MED23 | c.948C>T (p.Asp316=) c.690C>T (p.Asp230=) c.894C>T (p.Asp298=) c.*835C>T (n.*835C>T) c.693C>T (p.Asp231=) c.4095+3822G>A (n.4095+3822G>A) c.972C>T (p.Asp324=) c.4077+3822G>A (n.4077+3822G>A) n.932C>T | |
6 | g.131583888T>A | CA365653770 | ARG1,MED23 | c.949T>A (p.Tyr317Asn) c.691T>A (p.Tyr231Asn) c.895T>A (p.Tyr299Asn) c.*836T>A (n.*836T>A) c.694T>A (p.Tyr232Asn) c.4095+3821A>T (n.4095+3821A>T) c.973T>A (p.Tyr325Asn) c.4077+3821A>T (n.4077+3821A>T) n.933T>A | |
6 | g.131583888T>C | CA365653769 | ARG1,MED23 | c.949T>C (p.Tyr317His) c.691T>C (p.Tyr231His) c.895T>C (p.Tyr299His) c.*836T>C (n.*836T>C) c.694T>C (p.Tyr232His) c.4095+3821A>G (n.4095+3821A>G) c.973T>C (p.Tyr325His) c.4077+3821A>G (n.4077+3821A>G) n.933T>C | |
6 | g.131583888T>G | CA365653768 | ARG1,MED23 | c.949T>G (p.Tyr317Asp) c.691T>G (p.Tyr231Asp) c.895T>G (p.Tyr299Asp) c.*836T>G (n.*836T>G) c.694T>G (p.Tyr232Asp) c.4095+3821A>C (n.4095+3821A>C) c.973T>G (p.Tyr325Asp) c.4077+3821A>C (n.4077+3821A>C) n.933T>G | COSMIC |
6 | g.131583889A>C | CA365653771 | ARG1,MED23 | c.950A>C (p.Tyr317Ser) c.692A>C (p.Tyr231Ser) c.896A>C (p.Tyr299Ser) c.*837A>C (n.*837A>C) c.695A>C (p.Tyr232Ser) c.4095+3820T>G (n.4095+3820T>G) c.974A>C (p.Tyr325Ser) c.4077+3820T>G (n.4077+3820T>G) n.934A>C | |
6 | g.131583889A>G | CA365653772 | ARG1,MED23 | c.950A>G (p.Tyr317Cys) c.692A>G (p.Tyr231Cys) c.896A>G (p.Tyr299Cys) c.*837A>G (n.*837A>G) c.695A>G (p.Tyr232Cys) c.4095+3820T>C (n.4095+3820T>C) c.974A>G (p.Tyr325Cys) c.4077+3820T>C (n.4077+3820T>C) n.934A>G | |
6 | g.131583889A>T | CA365653773 | ARG1,MED23 | c.950A>T (p.Tyr317Phe) c.692A>T (p.Tyr231Phe) c.896A>T (p.Tyr299Phe) c.*837A>T (n.*837A>T) c.695A>T (p.Tyr232Phe) c.4095+3820T>A (n.4095+3820T>A) c.974A>T (p.Tyr325Phe) c.4077+3820T>A (n.4077+3820T>A) n.934A>T | |
6 | g.131583890C>A | CA365653774 | ARG1,MED23 | c.951C>A (p.Tyr317Ter) c.693C>A (p.Tyr231Ter) c.897C>A (p.Tyr299Ter) c.*838C>A (n.*838C>A) c.696C>A (p.Tyr232Ter) c.4095+3819G>T (n.4095+3819G>T) c.975C>A (p.Tyr325Ter) c.4077+3819G>T (n.4077+3819G>T) n.935C>A | |
6 | g.131583890C= | CA1664137999 | ARG1,MED23 | c.951C= (p.Tyr317=) c.693C= (p.Tyr231=) c.897C= (p.Tyr299=) c.*838C= (n.*838C=) c.696C= (p.Tyr232=) c.4095+3819G= (n.4095+3819G=) c.975C= (p.Tyr325=) c.4077+3819G= (n.4077+3819G=) n.935C= | |
6 | g.131583890C>G | CA365653775 | ARG1,MED23 | c.951C>G (p.Tyr317Ter) c.693C>G (p.Tyr231Ter) c.897C>G (p.Tyr299Ter) c.*838C>G (n.*838C>G) c.696C>G (p.Tyr232Ter) c.4095+3819G>C (n.4095+3819G>C) c.975C>G (p.Tyr325Ter) c.4077+3819G>C (n.4077+3819G>C) n.935C>G | |
6 | g.131583890C>T | CA452153381 | ARG1,MED23 | c.951C>T (p.Tyr317=) c.693C>T (p.Tyr231=) c.897C>T (p.Tyr299=) c.*838C>T (n.*838C>T) c.696C>T (p.Tyr232=) c.4095+3819G>A (n.4095+3819G>A) c.975C>T (p.Tyr325=) c.4077+3819G>A (n.4077+3819G>A) n.935C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.131583891C>A | CA365653776 | ARG1,MED23 | c.952C>A (p.Leu318Ile) c.694C>A (p.Leu232Ile) c.898C>A (p.Leu300Ile) c.*839C>A (n.*839C>A) c.697C>A (p.Leu233Ile) c.4095+3818G>T (n.4095+3818G>T) c.976C>A (p.Leu326Ile) c.4077+3818G>T (n.4077+3818G>T) n.936C>A | |
6 | g.131583891C= | CA1664138002 | ARG1,MED23 | c.952C= (p.Leu318=) c.694C= (p.Leu232=) c.898C= (p.Leu300=) c.*839C= (n.*839C=) c.697C= (p.Leu233=) c.4095+3818G= (n.4095+3818G=) c.976C= (p.Leu326=) c.4077+3818G= (n.4077+3818G=) n.936C= | |
6 | g.131583891C>G | CA3999417 | ARG1,MED23 | c.952C>G (p.Leu318Val) c.694C>G (p.Leu232Val) c.898C>G (p.Leu300Val) c.*839C>G (n.*839C>G) c.697C>G (p.Leu233Val) c.4095+3818G>C (n.4095+3818G>C) c.976C>G (p.Leu326Val) c.4077+3818G>C (n.4077+3818G>C) n.936C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583891C>T | CA365653777 | ARG1,MED23 | c.952C>T (p.Leu318Phe) c.694C>T (p.Leu232Phe) c.898C>T (p.Leu300Phe) c.*839C>T (n.*839C>T) c.697C>T (p.Leu233Phe) c.4095+3818G>A (n.4095+3818G>A) c.976C>T (p.Leu326Phe) c.4077+3818G>A (n.4077+3818G>A) n.936C>T | |
6 | g.131583892T>A | CA365653778 | ARG1,MED23 | c.953T>A (p.Leu318His) c.695T>A (p.Leu232His) c.899T>A (p.Leu300His) c.*840T>A (n.*840T>A) c.698T>A (p.Leu233His) c.4095+3817A>T (n.4095+3817A>T) c.977T>A (p.Leu326His) c.4077+3817A>T (n.4077+3817A>T) n.937T>A | |
6 | g.131583892T>C | CA3999418 | ARG1,MED23 | c.953T>C (p.Leu318Pro) c.695T>C (p.Leu232Pro) c.899T>C (p.Leu300Pro) c.*840T>C (n.*840T>C) c.698T>C (p.Leu233Pro) c.4095+3817A>G (n.4095+3817A>G) c.977T>C (p.Leu326Pro) c.4077+3817A>G (n.4077+3817A>G) n.937T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.131583892T>G | CA365653779 | ARG1,MED23 | c.953T>G (p.Leu318Arg) c.695T>G (p.Leu232Arg) c.899T>G (p.Leu300Arg) c.*840T>G (n.*840T>G) c.698T>G (p.Leu233Arg) c.4095+3817A>C (n.4095+3817A>C) c.977T>G (p.Leu326Arg) c.4077+3817A>C (n.4077+3817A>C) n.937T>G | |
6 | g.131583892T= | CA1664138006 | ARG1,MED23 | c.953T= (p.Leu318=) c.695T= (p.Leu232=) c.899T= (p.Leu300=) c.*840T= (n.*840T=) c.698T= (p.Leu233=) c.4095+3817A= (n.4095+3817A=) c.977T= (p.Leu326=) c.4077+3817A= (n.4077+3817A=) n.937T= |