| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11100222_11107515del | CA658824387 | LDLR | c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del | ClinVar |
| 19 | g.11101932_11106610del | CA1139666288 | LDLR | c.449-732_998del c.191-732_740del c.445-732_994del c.191-732_314-782del c.190+1587_617del c.191-732_359del n.341-732_890del n.308-732_857del | ClinVar |
| 19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
| 19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
| 19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
| 19 | g.11102664_11105600del | CA2580061394 | LDLR | c.449_952del c.191_694del c.445_948del c.191_314-1792del c.190+2319_571del c.191_314-965del n.341_844del n.308_811del | ClinVar |
| 19 | g.11102664_11106687del | CA10584788 | LDLR | c.449_1075del c.191_817del c.445_1071del c.191_314-705del c.190+2319_694del c.191_436del n.341_967del n.308_934del | |
| 19 | g.11102663_11107515del | CA658824388 | LDLR | c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del | ClinVar |
| 19 | g.11102785_11107393del | CA916084172 | LDLR | c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del | |
| 19 | g.11104109_11109216del | CA2573050567 | LDLR | c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del | |
| 19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup | |
| 19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup | |
| 19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup | |
| 19 | g.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
| 19 | g.11105555_11105592delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA | CA2322767575 | LDLR | c.907_944delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp303=) c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp217=) c.903_940delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA c.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (n.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA) c.526_563delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp176=) c.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (n.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA) c.249_286delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA n.799_836delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA n.766_803delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA | |
| 19 | g.11105557_11105593del | CA10585041 | LDLR | c.909_945del (p.Asp303GlufsTer?) c.651_687del (p.Asp217GlufsTer?) c.905_941del c.314-1835_314-1799del (n.314-1835_314-1799del) c.528_564del (p.Asp176GlufsTer?) c.314-1008_314-972del (n.314-1008_314-972del) c.251_287del n.801_837del n.768_804del | ClinVar dbSNP |
| 19 | g.11105560_11105588del | CA2695223208 | LDLR | c.912_940del (p.Pro306LysfsTer10) c.654_682del (p.Pro220LysfsTer10) c.908_936del c.314-1832_314-1804del (n.314-1832_314-1804del) c.531_559del (p.Pro179LysfsTer10) c.314-1005_314-977del (n.314-1005_314-977del) c.254_282del n.804_832del n.771_799del | |
| 19 | g.11105566_11105572dup | CA16602304 | LDLR | c.918_924dup (p.Lys309ArgfsTer7) c.660_666dup (p.Lys223ArgfsTer7) c.914_920dup c.314-1826_314-1820dup (n.314-1826_314-1820dup) c.537_543dup (p.Lys182ArgfsTer7) c.314-999_314-993dup (n.314-999_314-993dup) c.260_266dup n.810_816dup n.777_783dup | ClinVar dbSNP |
| 19 | g.11105565_11105582delinsCCGACTGCAAGGACAAAT | CA2322767589 | LDLR | c.917_934delinsCCGACTGCAAGGACAAAT (p.Pro306=) c.659_676delinsCCGACTGCAAGGACAAAT (p.Pro220=) c.913_930delinsCCGACTGCAAGGACAAAT c.314-1827_314-1810delinsCCGACTGCAAGGACAAAT (n.314-1827_314-1810delinsCCGACTGCAAGGACAAAT) c.536_553delinsCCGACTGCAAGGACAAAT (p.Pro179=) c.314-1000_314-983delinsCCGACTGCAAGGACAAAT (n.314-1000_314-983delinsCCGACTGCAAGGACAAAT) c.259_276delinsCCGACTGCAAGGACAAAT n.809_826delinsCCGACTGCAAGGACAAAT n.776_793delinsCCGACTGCAAGGACAAAT | |
| 19 | g.11105567_11105572dup | CA2695223209 | LDLR | c.919_924dup (p.Cys308_Lys309insAspCys) c.661_666dup (p.Cys222_Lys223insAspCys) c.915_920dup c.314-1825_314-1820dup (n.314-1825_314-1820dup) c.538_543dup (p.Cys181_Lys182insAspCys) c.314-998_314-993dup (n.314-998_314-993dup) c.261_266dup n.811_816dup n.778_783dup | |
| 19 | g.11105567_11105583del | CA10585048 | LDLR | c.919_935del (p.Asp307Ter) c.661_677del (p.Asp221Ter) c.915_931del c.314-1825_314-1809del (n.314-1825_314-1809del) c.538_554del (p.Asp180Ter) c.314-998_314-982del (n.314-998_314-982del) c.261_277del n.811_827del n.778_794del | ClinVar dbSNP |
| 19 | g.11105566_11105584delinsCGACTGCAAGGACAAATCT | CA2322767593 | LDLR | c.918_936delinsCGACTGCAAGGACAAATCT (p.Pro306=) c.660_678delinsCGACTGCAAGGACAAATCT (p.Pro220=) c.914_932delinsCGACTGCAAGGACAAATCT c.314-1826_314-1808delinsCGACTGCAAGGACAAATCT (n.314-1826_314-1808delinsCGACTGCAAGGACAAATCT) c.537_555delinsCGACTGCAAGGACAAATCT (p.Pro179=) c.314-999_314-981delinsCGACTGCAAGGACAAATCT (n.314-999_314-981delinsCGACTGCAAGGACAAATCT) c.260_278delinsCGACTGCAAGGACAAATCT n.810_828delinsCGACTGCAAGGACAAATCT n.777_795delinsCGACTGCAAGGACAAATCT | |
| 19 | g.11105569_11105589dup | CA10585050 | LDLR | c.921_941dup (p.Asp313_Glu314insAspCysLysAspLysSerAsp) c.663_683dup (p.Asp227_Glu228insAspCysLysAspLysSerAsp) c.917_937dup c.314-1823_314-1803dup (n.314-1823_314-1803dup) c.540_560dup (p.Asp186_Glu187insAspCysLysAspLysSerAsp) c.314-996_314-976dup (n.314-996_314-976dup) c.263_283dup n.813_833dup n.780_800dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105568_11105575del | CA2695238678 | LDLR | c.920_927del (p.Asp307GlyfsTer4) c.662_669del (p.Asp221GlyfsTer4) c.916_923del c.314-1824_314-1817del (n.314-1824_314-1817del) c.539_546del (p.Asp180GlyfsTer4) c.314-997_314-990del (n.314-997_314-990del) c.262_269del n.812_819del n.779_786del | |
| 19 | g.11105570_11105578del | CA2739276481 | LDLR | c.922_930del (p.Cys308_Asp310del) c.664_672del (p.Cys222_Asp224del) c.918_926del c.314-1822_314-1814del (n.314-1822_314-1814del) c.541_549del (p.Cys181_Asp183del) c.314-995_314-987del (n.314-995_314-987del) c.264_272del n.814_822del n.781_789del | ClinVar |
| 19 | g.11105567_11105579dup | CA10585047 | LDLR | c.919_931dup (p.Lys311ArgfsTer7) c.661_673dup (p.Lys225ArgfsTer7) c.915_927dup c.314-1825_314-1813dup (n.314-1825_314-1813dup) c.538_550dup (p.Lys184ArgfsTer7) c.314-998_314-986dup (n.314-998_314-986dup) c.261_273dup n.811_823dup n.778_790dup | ClinVar dbSNP |
| 19 | g.11105570_11105587dup | CA250482 | LDLR | c.922_939dup (p.Asp313_Glu314insCysLysAspLysSerAsp) c.664_681dup (p.Asp227_Glu228insCysLysAspLysSerAsp) c.918_935dup c.314-1822_314-1805dup (n.314-1822_314-1805dup) c.541_558dup (p.Asp186_Glu187insCysLysAspLysSerAsp) c.314-995_314-978dup (n.314-995_314-978dup) c.264_281dup n.814_831dup n.781_798dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105570_11105587del | CA16602305 | LDLR | c.922_939del (p.Cys308_Asp313del) c.664_681del (p.Cys222_Asp227del) c.918_935del c.314-1822_314-1805del (n.314-1822_314-1805del) c.541_558del (p.Cys181_Asp186del) c.314-995_314-978del (n.314-995_314-978del) c.264_281del n.814_831del n.781_798del | ClinVar dbSNP |
| 19 | g.11105567_11105588dup | CA2695238672 | LDLR | c.919_940dup (p.Glu314GlyfsTer7) c.661_682dup (p.Glu228GlyfsTer7) c.915_936dup c.314-1825_314-1804dup (n.314-1825_314-1804dup) c.538_559dup (p.Glu187GlyfsTer7) c.314-998_314-977dup (n.314-998_314-977dup) c.261_282dup n.811_832dup n.778_799dup | |
| 19 | g.11105567_11105594delinsGACTGCAAGGACAAATCTGACGAGGAAA | CA2322767595 | LDLR | c.919_946delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp307=) c.661_688delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp221=) c.915_942delinsGACTGCAAGGACAAATCTGACGAGGAAA c.314-1825_314-1798delinsGACTGCAAGGACAAATCTGACGAGGAAA (n.314-1825_314-1798delinsGACTGCAAGGACAAATCTGACGAGGAAA) c.538_565delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp180=) c.314-998_314-971delinsGACTGCAAGGACAAATCTGACGAGGAAA (n.314-998_314-971delinsGACTGCAAGGACAAATCTGACGAGGAAA) c.261_288delinsGACTGCAAGGACAAATCTGACGAGGAAA n.811_838delinsGACTGCAAGGACAAATCTGACGAGGAAA n.778_805delinsGACTGCAAGGACAAATCTGACGAGGAAA | |
| 19 | g.11105568_11105587dup | CA645509263 | LDLR | c.920_939dup (p.Glu314ThrfsTer?) c.662_681dup (p.Glu228ThrfsTer?) c.916_935dup c.314-1824_314-1805dup (n.314-1824_314-1805dup) c.539_558dup (p.Glu187ThrfsTer?) c.314-997_314-978dup (n.314-997_314-978dup) c.262_281dup n.812_831dup n.779_798dup | ClinVar dbSNP |
| 19 | g.11105573_11105599del | CA10585056 | LDLR | c.925_951del (p.Lys309_Cys317del) c.667_693del (p.Lys223_Cys231del) c.921_947del c.314-1819_314-1793del (n.314-1819_314-1793del) c.544_570del (p.Lys182_Cys190del) c.314-992_314-966del (n.314-992_314-966del) c.267_293del n.817_843del n.784_810del | ClinVar dbSNP |
| 19 | g.11105572_11105585del | CA2582473248 | LDLR | c.924_937del (p.Cys308Ter) c.666_679del (p.Cys222Ter) c.920_933del c.314-1820_314-1807del (n.314-1820_314-1807del) c.543_556del (p.Cys181Ter) c.314-993_314-980del (n.314-993_314-980del) c.266_279del n.816_829del n.783_796del | gnomAD v4 |
| 19 | g.11105569_11105587delinsCTGCAAGGACAAATCTGAC | CA2322767597 | LDLR | c.921_939delinsCTGCAAGGACAAATCTGAC (p.Asp307=) c.663_681delinsCTGCAAGGACAAATCTGAC (p.Asp221=) c.917_935delinsCTGCAAGGACAAATCTGAC c.314-1823_314-1805delinsCTGCAAGGACAAATCTGAC (n.314-1823_314-1805delinsCTGCAAGGACAAATCTGAC) c.540_558delinsCTGCAAGGACAAATCTGAC (p.Asp180=) c.314-996_314-978delinsCTGCAAGGACAAATCTGAC (n.314-996_314-978delinsCTGCAAGGACAAATCTGAC) c.263_281delinsCTGCAAGGACAAATCTGAC n.813_831delinsCTGCAAGGACAAATCTGAC n.780_798delinsCTGCAAGGACAAATCTGAC | |
| 19 | g.11105569_11105587dup | CA2582473247 | LDLR | c.921_939dup (p.Glu314LeufsTer6) c.663_681dup (p.Glu228LeufsTer6) c.917_935dup c.314-1823_314-1805dup (n.314-1823_314-1805dup) c.540_558dup (p.Glu187LeufsTer6) c.314-996_314-978dup (n.314-996_314-978dup) c.263_281dup n.813_831dup n.780_798dup | gnomAD v4 |
| 19 | g.11105570_11105587delinsCCGACTG | CA10585052 | LDLR | c.922_939delinsCCGACTG (p.Cys308ProfsTer14) c.664_681delinsCCGACTG (p.Cys222ProfsTer14) c.918_935delinsCCGACTG c.314-1822_314-1805delinsCCGACTG (n.314-1822_314-1805delinsCCGACTG) c.541_558delinsCCGACTG (p.Cys181ProfsTer14) c.314-995_314-978delinsCCGACTG (n.314-995_314-978delinsCCGACTG) c.264_281delinsCCGACTG n.814_831delinsCCGACTG n.781_798delinsCCGACTG | ClinVar dbSNP |
| 19 | g.11105570_11105588dup | CA2695238671 | LDLR | c.922_940dup (p.Glu314ValfsTer6) c.664_682dup (p.Glu228ValfsTer6) c.918_936dup c.314-1822_314-1804dup (n.314-1822_314-1804dup) c.541_559dup (p.Glu187ValfsTer6) c.314-995_314-977dup (n.314-995_314-977dup) c.264_282dup n.814_832dup n.781_799dup | |
| 19 | g.11105571_11105579dup | CA2573155713 | LDLR | c.923_931dup (p.Asp310_Lys311insSerLysAsp) c.665_673dup (p.Asp224_Lys225insSerLysAsp) c.919_927dup c.314-1821_314-1813dup (n.314-1821_314-1813dup) c.542_550dup (p.Asp183_Lys184insSerLysAsp) c.314-994_314-986dup (n.314-994_314-986dup) c.265_273dup n.815_823dup n.782_790dup | ClinVar dbSNP |
| 19 | g.11105571_11105585dup | CA2580096479 | LDLR | c.923_937dup (p.Ser312_Asp313insGlyLysAspLysSer) c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer) c.919_933dup c.314-1821_314-1807dup (n.314-1821_314-1807dup) c.542_556dup (p.Ser185_Asp186insGlyLysAspLysSer) c.314-994_314-980dup (n.314-994_314-980dup) c.265_279dup n.815_829dup n.782_796dup | ClinVar |
| 19 | g.11105572_11105588dup | CA16602306 | LDLR | c.924_940dup (p.Glu314AlafsTer?) c.666_682dup (p.Glu228AlafsTer?) c.920_936dup c.314-1820_314-1804dup (n.314-1820_314-1804dup) c.543_559dup (p.Glu187AlafsTer?) c.314-993_314-977dup (n.314-993_314-977dup) c.266_282dup n.816_832dup n.783_799dup | ClinVar dbSNP |
| 19 | g.11105571_11105593delinsGCAAGGACAAATCTGACGAGGAA | CA2322767601 | LDLR | c.923_945delinsGCAAGGACAAATCTGACGAGGAA (p.Cys308=) c.665_687delinsGCAAGGACAAATCTGACGAGGAA (p.Cys222=) c.919_941delinsGCAAGGACAAATCTGACGAGGAA c.314-1821_314-1799delinsGCAAGGACAAATCTGACGAGGAA (n.314-1821_314-1799delinsGCAAGGACAAATCTGACGAGGAA) c.542_564delinsGCAAGGACAAATCTGACGAGGAA (p.Cys181=) c.314-994_314-972delinsGCAAGGACAAATCTGACGAGGAA (n.314-994_314-972delinsGCAAGGACAAATCTGACGAGGAA) c.265_287delinsGCAAGGACAAATCTGACGAGGAA n.815_837delinsGCAAGGACAAATCTGACGAGGAA n.782_804delinsGCAAGGACAAATCTGACGAGGAA | |
| 19 | g.11105571_11105594delinsGCAAGGACAAATCTGACGAGGAAA | CA2322767602 | LDLR | c.923_946delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys308=) c.665_688delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys222=) c.919_942delinsGCAAGGACAAATCTGACGAGGAAA c.314-1821_314-1798delinsGCAAGGACAAATCTGACGAGGAAA (n.314-1821_314-1798delinsGCAAGGACAAATCTGACGAGGAAA) c.542_565delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys181=) c.314-994_314-971delinsGCAAGGACAAATCTGACGAGGAAA (n.314-994_314-971delinsGCAAGGACAAATCTGACGAGGAAA) c.265_288delinsGCAAGGACAAATCTGACGAGGAAA n.815_838delinsGCAAGGACAAATCTGACGAGGAAA n.782_805delinsGCAAGGACAAATCTGACGAGGAAA | |
| 19 | g.11105572del | CA2497030125 | LDLR | c.924del (p.Cys308Ter) c.666del (p.Cys222Ter) c.920del c.314-1820del (n.314-1820del) c.543del (p.Cys181Ter) c.314-993del (n.314-993del) c.266del n.816del n.783del | |
| 19 | g.11105572C>A | CA044280 | LDLR | c.924C>A (p.Cys308Ter) c.666C>A (p.Cys222Ter) c.920C>A c.314-1820C>A (n.314-1820C>A) c.543C>A (p.Cys181Ter) c.314-993C>A (n.314-993C>A) c.266C>A n.816C>A n.783C>A | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.11105572C= | CA2322767603 | LDLR | c.924C= (p.Cys308=) c.666C= (p.Cys222=) c.920C= c.314-1820C= (n.314-1820C=) c.543C= (p.Cys181=) c.314-993C= (n.314-993C=) c.266C= n.816C= n.783C= | |
| 19 | g.11105572C>G | CA10585054 | LDLR | c.924C>G (p.Cys308Trp) c.666C>G (p.Cys222Trp) c.920C>G c.314-1820C>G (n.314-1820C>G) c.543C>G (p.Cys181Trp) c.314-993C>G (n.314-993C>G) c.266C>G n.816C>G n.783C>G | ClinVar dbSNP |
| 19 | g.11105572C>T | CA505743509 | LDLR | c.924C>T (p.Cys308=) c.666C>T (p.Cys222=) c.920C>T c.314-1820C>T (n.314-1820C>T) c.543C>T (p.Cys181=) c.314-993C>T (n.314-993C>T) c.266C>T n.816C>T n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.11105573_11105583del | CA2580096482 | LDLR | c.925_935del (p.Lys309Ter) c.667_677del (p.Lys223Ter) c.921_931del c.314-1819_314-1809del (n.314-1819_314-1809del) c.544_554del (p.Lys182Ter) c.314-992_314-982del (n.314-992_314-982del) c.267_277del n.817_827del n.784_794del | ClinVar |
| 19 | g.11105573_11105587dup | CA2573130223 | LDLR | c.925_939dup (p.Asp313_Glu314insLysAspLysSerAsp) c.667_681dup (p.Asp227_Glu228insLysAspLysSerAsp) c.921_935dup c.314-1819_314-1805dup (n.314-1819_314-1805dup) c.544_558dup (p.Asp186_Glu187insLysAspLysSerAsp) c.314-992_314-978dup (n.314-992_314-978dup) c.267_281dup n.817_831dup n.784_798dup | |
| 19 | g.11105573_11105587del | CA2573054702 | LDLR | c.925_939del (p.Lys309_Asp313del) c.667_681del (p.Lys223_Asp227del) c.921_935del c.314-1819_314-1805del (n.314-1819_314-1805del) c.544_558del (p.Lys182_Asp186del) c.314-992_314-978del (n.314-992_314-978del) c.267_281del n.817_831del n.784_798del | ClinVar dbSNP |