| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.81868598_81869033delinsCACAGGCAGAAGCAGCAACGAGACAGGAGA | CA2697555263 | ARHGDIA | c.458_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG (n.[c.458_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG;Ala153ValfsTer?]) c.416-90_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG c.458_503-14delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG c.435+23_781delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG c.593_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG (n.[c.593_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG;Ala198ValfsTer?]) n.517_952delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG n.448_883delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG | ClinVar |
| 17 | g.81868874dup | CA2576427330 | ARHGDIA | c.*4dup (n.*4dup) c.502+117dup (n.502+117dup) n.821dup c.507dup (p.Ser170GlnfsTer9) n.678dup n.609dup | |
| 17 | g.81868873G>A | CA401523102 | ARHGDIA | c.*3C>T (n.*3C>T) c.502+116C>T (n.502+116C>T) n.820C>T c.506C>T (p.Pro169Leu) n.677C>T n.608C>T | |
| 17 | g.81868873G>C | CA401523104 | ARHGDIA | c.*3C>G (n.*3C>G) c.502+116C>G (n.502+116C>G) n.820C>G c.506C>G (p.Pro169Arg) n.677C>G n.608C>G | |
| 17 | g.81868873G>T | CA401523107 | ARHGDIA | c.*3C>A (n.*3C>A) c.502+116C>A (n.502+116C>A) n.820C>A c.506C>A (p.Pro169His) n.677C>A n.608C>A | |
| 17 | g.81868874G>A | CA401523110 | ARHGDIA | c.*2C>T (n.*2C>T) c.502+115C>T (n.502+115C>T) n.819C>T c.505C>T (p.Pro169Ser) n.676C>T n.607C>T | gnomAD v4 |
| 17 | g.81868874G>C | CA401523114 | ARHGDIA | c.*2C>G (n.*2C>G) c.502+115C>G (n.502+115C>G) n.819C>G c.505C>G (p.Pro169Ala) n.676C>G n.607C>G | |
| 17 | g.81868874G>T | CA401523125 | ARHGDIA | c.*2C>A (n.*2C>A) c.502+115C>A (n.502+115C>A) n.819C>A c.505C>A (p.Pro169Thr) n.676C>A n.607C>A | |
| 17 | g.81868875_81868953dup | CA2640523186 | ARHGDIA | c.539_*2dup (n.539_*2dup) c.416-9_*2dup c.502+37_502+115dup (n.502+37_502+115dup) c.314_*2dup (n.314_*2dup) n.741_819dup c.436-9_505dup c.674_*2dup (n.674_*2dup) n.598_676dup n.529_607dup | gnomAD v4 |
| 17 | g.81868875C>A | CA401523128 | ARHGDIA | c.*1G>T (n.*1G>T) c.502+114G>T (n.502+114G>T) n.818G>T c.504G>T (p.Glu168Asp) n.675G>T n.606G>T | dbSNP |
| 17 | g.81868875C= | CA2278712664 | ARHGDIA | c.*1G= (n.*1G=) c.502+114G= (n.502+114G=) n.818G= c.504G= (p.Glu168=) n.675G= n.606G= | |
| 17 | g.81868875C>G | CA401523130 | ARHGDIA | c.*1G>C (n.*1G>C) c.502+114G>C (n.502+114G>C) n.818G>C c.504G>C (p.Glu168Asp) n.675G>C n.606G>C | |
| 17 | g.81868875C>T | CA2599097508 | ARHGDIA | c.*1G>A (n.*1G>A) c.502+114G>A (n.502+114G>A) n.818G>A c.504G>A (p.Glu168=) n.675G>A n.606G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.81868876T>A | CA401523133 | ARHGDIA | c.615A>T (p.Ter205Cys) c.483A>T (p.Ter161Cys) c.502+113A>T (n.502+113A>T) c.390A>T (p.Ter130Cys) n.817A>T c.503A>T (p.Glu168Val) c.750A>T (p.Ter250Cys) n.674A>T n.605A>T | |
| 17 | g.81868876T>C | CA401523137 | ARHGDIA | c.615A>G (p.Ter205Trp) c.483A>G (p.Ter161Trp) c.502+113A>G (n.502+113A>G) c.390A>G (p.Ter130Trp) n.817A>G c.503A>G (p.Glu168Gly) c.750A>G (p.Ter250Trp) n.674A>G n.605A>G | |
| 17 | g.81868876T>G | CA401523136 | ARHGDIA | c.615A>C (p.Ter205Cys) c.483A>C (p.Ter161Cys) c.502+113A>C (n.502+113A>C) c.390A>C (p.Ter130Cys) n.817A>C c.503A>C (p.Glu168Ala) c.750A>C (p.Ter250Cys) n.674A>C n.605A>C | |
| 17 | g.81868878_81868881dup | CA919909306 | ARHGDIA | c.612_615dup (n.612_615dup) c.480_483dup (n.480_483dup) c.502+110_502+113dup (n.502+110_502+113dup) c.387_390dup (n.387_390dup) n.814_817dup c.500_503dup (p.Glu168AspfsTer2) c.747_750dup (n.747_750dup) n.671_674dup n.602_605dup | dbSNP |
| 17 | g.81868876_81868885delinsTCAGTCCTTC | CA2278712665 | ARHGDIA | c.606_615delinsGAAGGACTGA (p.Trp202=) c.474_483delinsGAAGGACTGA (p.Trp158=) c.502+104_502+113delinsGAAGGACTGA (n.502+104_502+113delinsGAAGGACTGA) c.381_390delinsGAAGGACTGA (p.Trp127=) n.808_817delinsGAAGGACTGA c.494_503delinsGAAGGACTGA (p.Gly165=) c.741_750delinsGAAGGACTGA (p.Trp247=) n.665_674delinsGAAGGACTGA n.596_605delinsGAAGGACTGA | |
| 17 | g.81868877C>A | CA401523141 | ARHGDIA | c.614G>T (p.Ter205Leu) c.482G>T (p.Ter161Leu) c.502+112G>T (n.502+112G>T) c.389G>T (p.Ter130Leu) n.816G>T c.502G>T (p.Glu168Ter) c.749G>T (p.Ter250Leu) n.673G>T n.604G>T | |
| 17 | g.81868877C= | CA2278712666 | ARHGDIA | c.614G= (p.Ter205=) c.482G= (p.Ter161=) c.502+112G= (n.502+112G=) c.389G= (p.Ter130=) n.816G= c.502G= (p.Glu168=) c.749G= (p.Ter250=) n.673G= n.604G= | |
| 17 | g.81868877C>G | CA401523144 | ARHGDIA | c.614G>C (p.Ter205Ser) c.482G>C (p.Ter161Ser) c.502+112G>C (n.502+112G>C) c.389G>C (p.Ter130Ser) n.816G>C c.502G>C (p.Glu168Gln) c.749G>C (p.Ter250Ser) n.673G>C n.604G>C | gnomAD v4 |
| 17 | g.81868877C>T | CA401523146 | ARHGDIA | c.614G>A (p.Ter205=) c.482G>A (p.Ter161=) c.502+112G>A (n.502+112G>A) c.389G>A (p.Ter130=) n.816G>A c.502G>A (p.Glu168Lys) c.749G>A (p.Ter250=) n.673G>A n.604G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.81868877_81868878del | CA2734050729 | ARHGDIA | c.613_614del (p.Ter205SerextTer?) c.481_482del (p.Ter161SerextTer?) c.502+111_502+112del (n.502+111_502+112del) c.388_389del (p.Ter130SerextTer?) n.815_816del c.501_502del (p.Glu168AlafsTer10) c.748_749del (p.Ter250SerextTer?) n.672_673del n.603_604del | dbSNP |
| 17 | g.81868886_81868894del | CA8843189 | ARHGDIA | c.606_614del (p.Trp202Ter) c.474_482del (p.Trp158Ter) c.502+104_502+112del (n.502+104_502+112del) c.381_389del (p.Trp127Ter) n.808_816del c.494_502del (p.Gly165_Thr167del) c.741_749del (p.Trp247Ter) n.665_673del n.596_604del | dbSNP ExAC gnomAD v2 |
| 17 | g.81868878A= | CA2278712667 | ARHGDIA | c.613T= (p.Ter205=) c.481T= (p.Ter161=) c.502+111T= (n.502+111T=) c.388T= (p.Ter130=) n.815T= c.501T= (p.Thr167=) c.748T= (p.Ter250=) n.672T= n.603T= | |
| 17 | g.81868878A>C | CA401523151 | ARHGDIA | c.613T>G (p.Ter205Gly) c.481T>G (p.Ter161Gly) c.502+111T>G (n.502+111T>G) c.388T>G (p.Ter130Gly) n.815T>G c.501T>G (p.Thr167=) c.748T>G (p.Ter250Gly) n.672T>G n.603T>G | |
| 17 | g.81868878A>G | CA8843190 | ARHGDIA | c.613T>C (p.Ter205Arg) c.481T>C (p.Ter161Arg) c.502+111T>C (n.502+111T>C) c.388T>C (p.Ter130Arg) n.815T>C c.501T>C (p.Thr167=) c.748T>C (p.Ter250Arg) n.672T>C n.603T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81868878A>T | CA401523156 | ARHGDIA | c.613T>A (p.Ter205Arg) c.481T>A (p.Ter161Arg) c.502+111T>A (n.502+111T>A) c.388T>A (p.Ter130Arg) n.815T>A c.501T>A (p.Thr167=) c.748T>A (p.Ter250Arg) n.672T>A n.603T>A | |
| 17 | g.81868879G>A | CA401523159 | ARHGDIA | c.612C>T (p.Asp204=) c.480C>T (p.Asp160=) c.502+110C>T (n.502+110C>T) c.387C>T (p.Asp129=) n.814C>T c.500C>T (p.Thr167Ile) c.747C>T (p.Asp249=) n.671C>T n.602C>T | gnomAD v4 |
| 17 | g.81868879G>C | CA401523162 | ARHGDIA | c.612C>G (p.Asp204Glu) c.480C>G (p.Asp160Glu) c.502+110C>G (n.502+110C>G) c.387C>G (p.Asp129Glu) n.814C>G c.500C>G (p.Thr167Ser) c.747C>G (p.Asp249Glu) n.671C>G n.602C>G | gnomAD v4 |
| 17 | g.81868879G>T | CA401523164 | ARHGDIA | c.612C>A (p.Asp204Glu) c.480C>A (p.Asp160Glu) c.502+110C>A (n.502+110C>A) c.387C>A (p.Asp129Glu) n.814C>A c.500C>A (p.Thr167Asn) c.747C>A (p.Asp249Glu) n.671C>A n.602C>A | |
| 17 | g.81868880T>A | CA401523170 | ARHGDIA | c.611A>T (p.Asp204Val) c.479A>T (p.Asp160Val) c.502+109A>T (n.502+109A>T) c.386A>T (p.Asp129Val) n.813A>T c.499A>T (p.Thr167Ser) c.746A>T (p.Asp249Val) n.670A>T n.601A>T | |
| 17 | g.81868880T>C | CA401523174 | ARHGDIA | c.611A>G (p.Asp204Gly) c.479A>G (p.Asp160Gly) c.502+109A>G (n.502+109A>G) c.386A>G (p.Asp129Gly) n.813A>G c.499A>G (p.Thr167Ala) c.746A>G (p.Asp249Gly) n.670A>G n.601A>G | |
| 17 | g.81868880T>G | CA401523168 | ARHGDIA | c.611A>C (p.Asp204Ala) c.479A>C (p.Asp160Ala) c.502+109A>C (n.502+109A>C) c.386A>C (p.Asp129Ala) n.813A>C c.499A>C (p.Thr167Pro) c.746A>C (p.Asp249Ala) n.670A>C n.601A>C | |
| 17 | g.81868881C>A | CA401523179 | ARHGDIA | c.610G>T (p.Asp204Tyr) c.478G>T (p.Asp160Tyr) c.502+108G>T (n.502+108G>T) c.385G>T (p.Asp129Tyr) n.812G>T c.498G>T (p.Arg166Ser) c.745G>T (p.Asp249Tyr) n.669G>T n.600G>T | |
| 17 | g.81868881C>G | CA401523182 | ARHGDIA | c.610G>C (p.Asp204His) c.478G>C (p.Asp160His) c.502+108G>C (n.502+108G>C) c.385G>C (p.Asp129His) n.812G>C c.498G>C (p.Arg166Ser) c.745G>C (p.Asp249His) n.669G>C n.600G>C | |
| 17 | g.81868881C>T | CA401523185 | ARHGDIA | c.610G>A (p.Asp204Asn) c.478G>A (p.Asp160Asn) c.502+108G>A (n.502+108G>A) c.385G>A (p.Asp129Asn) n.812G>A c.498G>A (p.Arg166=) c.745G>A (p.Asp249Asn) n.669G>A n.600G>A | |
| 17 | g.81868882C>A | CA401523187 | ARHGDIA | c.609G>T (p.Lys203Asn) c.477G>T (p.Lys159Asn) c.502+107G>T (n.502+107G>T) c.384G>T (p.Lys128Asn) n.811G>T c.497G>T (p.Arg166Met) c.744G>T (p.Lys248Asn) n.668G>T n.599G>T | |
| 17 | g.81868882C= | CA2278712668 | ARHGDIA | c.609G= (p.Lys203=) c.477G= (p.Lys159=) c.502+107G= (n.502+107G=) c.384G= (p.Lys128=) n.811G= c.497G= (p.Arg166=) c.744G= (p.Lys248=) n.668G= n.599G= | |
| 17 | g.81868882C>G | CA401523188 | ARHGDIA | c.609G>C (p.Lys203Asn) c.477G>C (p.Lys159Asn) c.502+107G>C (n.502+107G>C) c.384G>C (p.Lys128Asn) n.811G>C c.497G>C (p.Arg166Thr) c.744G>C (p.Lys248Asn) n.668G>C n.599G>C | |
| 17 | g.81868882C>T | CA8843191 | ARHGDIA | c.609G>A (p.Lys203=) c.477G>A (p.Lys159=) c.502+107G>A (n.502+107G>A) c.384G>A (p.Lys128=) n.811G>A c.497G>A (p.Arg166Lys) c.744G>A (p.Lys248=) n.668G>A n.599G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.81868883T>A | CA401523195 | ARHGDIA | c.608A>T (p.Lys203Met) c.476A>T (p.Lys159Met) c.502+106A>T (n.502+106A>T) c.383A>T (p.Lys128Met) n.810A>T c.496A>T (p.Arg166Trp) c.743A>T (p.Lys248Met) n.667A>T n.598A>T | |
| 17 | g.81868883T>C | CA401523197 | ARHGDIA | c.608A>G (p.Lys203Arg) c.476A>G (p.Lys159Arg) c.502+106A>G (n.502+106A>G) c.383A>G (p.Lys128Arg) n.810A>G c.496A>G (p.Arg166Gly) c.743A>G (p.Lys248Arg) n.667A>G n.598A>G | |
| 17 | g.81868883T>G | CA401523199 | ARHGDIA | c.608A>C (p.Lys203Thr) c.476A>C (p.Lys159Thr) c.502+106A>C (n.502+106A>C) c.383A>C (p.Lys128Thr) n.810A>C c.496A>C (p.Arg166=) c.743A>C (p.Lys248Thr) n.667A>C n.598A>C | |
| 17 | g.81868884T>A | CA401523201 | ARHGDIA | c.607A>T (p.Lys203Ter) c.475A>T (p.Lys159Ter) c.502+105A>T (n.502+105A>T) c.382A>T (p.Lys128Ter) n.809A>T c.495A>T (p.Gly165=) c.742A>T (p.Lys248Ter) n.666A>T n.597A>T | |
| 17 | g.81868884T>C | CA401523205 | ARHGDIA | c.607A>G (p.Lys203Glu) c.475A>G (p.Lys159Glu) c.502+105A>G (n.502+105A>G) c.382A>G (p.Lys128Glu) n.809A>G c.495A>G (p.Gly165=) c.742A>G (p.Lys248Glu) n.666A>G n.597A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.81868884T>G | CA401523207 | ARHGDIA | c.607A>C (p.Lys203Gln) c.475A>C (p.Lys159Gln) c.502+105A>C (n.502+105A>C) c.382A>C (p.Lys128Gln) n.809A>C c.495A>C (p.Gly165=) c.742A>C (p.Lys248Gln) n.666A>C n.597A>C | |
| 17 | g.81868884T= | CA2278712669 | ARHGDIA | c.607A= (p.Lys203=) c.475A= (p.Lys159=) c.502+105A= (n.502+105A=) c.382A= (p.Lys128=) n.809A= c.495A= (p.Gly165=) c.742A= (p.Lys248=) n.666A= n.597A= | |
| 17 | g.81868885C>A | CA401523212 | ARHGDIA | c.606G>T (p.Trp202Cys) c.474G>T (p.Trp158Cys) c.502+104G>T (n.502+104G>T) c.381G>T (p.Trp127Cys) n.808G>T c.494G>T (p.Gly165Val) c.741G>T (p.Trp247Cys) n.665G>T n.596G>T | |
| 17 | g.81868885C= | CA2278712670 | ARHGDIA | c.606G= (p.Trp202=) c.474G= (p.Trp158=) c.502+104G= (n.502+104G=) c.381G= (p.Trp127=) n.808G= c.494G= (p.Gly165=) c.741G= (p.Trp247=) n.665G= n.596G= |