Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.90404691_90404692delinsAA | CA2579772765 | CALM1 | c.424_425delinsAA (p.Phe142Asn) c.316_317delinsAA (p.Phe106Asn) c.427_428delinsAA (p.Phe143Asn) c.296_297delinsAA (n.296_297delinsAA) c.*65_*66delinsAA (n.*65_*66delinsAA) n.2554_2555delinsAA n.476_477delinsAA n.350_351delinsAA c.226_227delinsAA (p.Phe76Asn) | |
14 | g.90404691_90404692delinsAC | CA2579770636 | CALM1 | c.424_425delinsAC (p.Phe142Thr) c.316_317delinsAC (p.Phe106Thr) c.427_428delinsAC (p.Phe143Thr) c.296_297delinsAC (n.296_297delinsAC) c.*65_*66delinsAC (n.*65_*66delinsAC) n.2554_2555delinsAC n.476_477delinsAC n.350_351delinsAC c.226_227delinsAC (p.Phe76Thr) | |
14 | g.90404691_90404692delinsAG | CA2579773784 | CALM1 | c.424_425delinsAG (p.Phe142Ser) c.316_317delinsAG (p.Phe106Ser) c.427_428delinsAG (p.Phe143Ser) c.296_297delinsAG (n.296_297delinsAG) c.*65_*66delinsAG (n.*65_*66delinsAG) n.2554_2555delinsAG n.476_477delinsAG n.350_351delinsAG c.226_227delinsAG (p.Phe76Ser) | |
14 | g.90404691_90404692delinsCA | CA2579771580 | CALM1 | c.424_425delinsCA (p.Phe142His) c.316_317delinsCA (p.Phe106His) c.427_428delinsCA (p.Phe143His) c.296_297delinsCA (n.296_297delinsCA) c.*65_*66delinsCA (n.*65_*66delinsCA) n.2554_2555delinsCA n.476_477delinsCA n.350_351delinsCA c.226_227delinsCA (p.Phe76His) | |
14 | g.90404691_90404692delinsCC | CA2579770523 | CALM1 | c.424_425delinsCC (p.Phe142Pro) c.316_317delinsCC (p.Phe106Pro) c.427_428delinsCC (p.Phe143Pro) c.296_297delinsCC (n.296_297delinsCC) c.*65_*66delinsCC (n.*65_*66delinsCC) n.2554_2555delinsCC n.476_477delinsCC n.350_351delinsCC c.226_227delinsCC (p.Phe76Pro) | |
14 | g.90404691_90404692delinsCG | CA2579774327 | CALM1 | c.424_425delinsCG (p.Phe142Arg) c.316_317delinsCG (p.Phe106Arg) c.427_428delinsCG (p.Phe143Arg) c.296_297delinsCG (n.296_297delinsCG) c.*65_*66delinsCG (n.*65_*66delinsCG) n.2554_2555delinsCG n.476_477delinsCG n.350_351delinsCG c.226_227delinsCG (p.Phe76Arg) | |
14 | g.90404691_90404692delinsGA | CA2579772874 | CALM1 | c.424_425delinsGA (p.Phe142Asp) c.316_317delinsGA (p.Phe106Asp) c.427_428delinsGA (p.Phe143Asp) c.296_297delinsGA (n.296_297delinsGA) c.*65_*66delinsGA (n.*65_*66delinsGA) n.2554_2555delinsGA n.476_477delinsGA n.350_351delinsGA c.226_227delinsGA (p.Phe76Asp) | |
14 | g.90404691_90404692delinsGC | CA2579774295 | CALM1 | c.424_425delinsGC (p.Phe142Ala) c.316_317delinsGC (p.Phe106Ala) c.427_428delinsGC (p.Phe143Ala) c.296_297delinsGC (n.296_297delinsGC) c.*65_*66delinsGC (n.*65_*66delinsGC) n.2554_2555delinsGC n.476_477delinsGC n.350_351delinsGC c.226_227delinsGC (p.Phe76Ala) | |
14 | g.90404691_90404692delinsGG | CA2579769866 | CALM1 | c.424_425delinsGG (p.Phe142Gly) c.316_317delinsGG (p.Phe106Gly) c.427_428delinsGG (p.Phe143Gly) c.296_297delinsGG (n.296_297delinsGG) c.*65_*66delinsGG (n.*65_*66delinsGG) n.2554_2555delinsGG n.476_477delinsGG n.350_351delinsGG c.226_227delinsGG (p.Phe76Gly) | |
14 | g.90404691_90404693delinsAAG | CA2579772961 | CALM1 | c.424_426delinsAAG (p.Phe142Lys) c.316_318delinsAAG (p.Phe106Lys) c.427_429delinsAAG (p.Phe143Lys) c.296_298delinsAAG (n.296_298delinsAAG) c.*65_*67delinsAAG (n.*65_*67delinsAAG) n.2554_2556delinsAAG n.476_478delinsAAG n.350_352delinsAAG c.226_228delinsAAG (p.Phe76Lys) | |
14 | g.90404691_90404693delinsAAT | CA2579770423 | CALM1 | c.424_426delinsAAT (p.Phe142Asn) c.316_318delinsAAT (p.Phe106Asn) c.427_429delinsAAT (p.Phe143Asn) c.296_298delinsAAT (n.296_298delinsAAT) c.*65_*67delinsAAT (n.*65_*67delinsAAT) n.2554_2556delinsAAT n.476_478delinsAAT n.350_352delinsAAT c.226_228delinsAAT (p.Phe76Asn) | |
14 | g.90404691_90404693delinsACG | CA2579774240 | CALM1 | c.424_426delinsACG (p.Phe142Thr) c.316_318delinsACG (p.Phe106Thr) c.427_429delinsACG (p.Phe143Thr) c.296_298delinsACG (n.296_298delinsACG) c.*65_*67delinsACG (n.*65_*67delinsACG) n.2554_2556delinsACG n.476_478delinsACG n.350_352delinsACG c.226_228delinsACG (p.Phe76Thr) | |
14 | g.90404691_90404693delinsACT | CA2579772851 | CALM1 | c.424_426delinsACT (p.Phe142Thr) c.316_318delinsACT (p.Phe106Thr) c.427_429delinsACT (p.Phe143Thr) c.296_298delinsACT (n.296_298delinsACT) c.*65_*67delinsACT (n.*65_*67delinsACT) n.2554_2556delinsACT n.476_478delinsACT n.350_352delinsACT c.226_228delinsACT (p.Phe76Thr) | |
14 | g.90404691_90404693delinsATG | CA2579773196 | CALM1 | c.424_426delinsATG (p.Phe142Met) c.316_318delinsATG (p.Phe106Met) c.427_429delinsATG (p.Phe143Met) c.296_298delinsATG (n.296_298delinsATG) c.*65_*67delinsATG (n.*65_*67delinsATG) n.2554_2556delinsATG n.476_478delinsATG n.350_352delinsATG c.226_228delinsATG (p.Phe76Met) | |
14 | g.90404691_90404693delinsATT | CA2579772947 | CALM1 | c.424_426delinsATT (p.Phe142Ile) c.316_318delinsATT (p.Phe106Ile) c.427_429delinsATT (p.Phe143Ile) c.296_298delinsATT (n.296_298delinsATT) c.*65_*67delinsATT (n.*65_*67delinsATT) n.2554_2556delinsATT n.476_478delinsATT n.350_352delinsATT c.226_228delinsATT (p.Phe76Ile) | |
14 | g.90404691_90404693delinsCCG | CA2579770026 | CALM1 | c.424_426delinsCCG (p.Phe142Pro) c.316_318delinsCCG (p.Phe106Pro) c.427_429delinsCCG (p.Phe143Pro) c.296_298delinsCCG (n.296_298delinsCCG) c.*65_*67delinsCCG (n.*65_*67delinsCCG) n.2554_2556delinsCCG n.476_478delinsCCG n.350_352delinsCCG c.226_228delinsCCG (p.Phe76Pro) | |
14 | g.90404691_90404693delinsCCT | CA2579771763 | CALM1 | c.424_426delinsCCT (p.Phe142Pro) c.316_318delinsCCT (p.Phe106Pro) c.427_429delinsCCT (p.Phe143Pro) c.296_298delinsCCT (n.296_298delinsCCT) c.*65_*67delinsCCT (n.*65_*67delinsCCT) n.2554_2556delinsCCT n.476_478delinsCCT n.350_352delinsCCT c.226_228delinsCCT (p.Phe76Pro) | |
14 | g.90404691_90404693delinsCGT | CA2579769940 | CALM1 | c.424_426delinsCGT (p.Phe142Arg) c.316_318delinsCGT (p.Phe106Arg) c.427_429delinsCGT (p.Phe143Arg) c.296_298delinsCGT (n.296_298delinsCGT) c.*65_*67delinsCGT (n.*65_*67delinsCGT) n.2554_2556delinsCGT n.476_478delinsCGT n.350_352delinsCGT c.226_228delinsCGT (p.Phe76Arg) | |
14 | g.90404691_90404693delinsCTT | CA2579771707 | CALM1 | c.424_426delinsCTT (p.Phe142Leu) c.316_318delinsCTT (p.Phe106Leu) c.427_429delinsCTT (p.Phe143Leu) c.296_298delinsCTT (n.296_298delinsCTT) c.*65_*67delinsCTT (n.*65_*67delinsCTT) n.2554_2556delinsCTT n.476_478delinsCTT n.350_352delinsCTT c.226_228delinsCTT (p.Phe76Leu) | |
14 | g.90404691_90404693delinsGAG | CA2579772952 | CALM1 | c.424_426delinsGAG (p.Phe142Glu) c.316_318delinsGAG (p.Phe106Glu) c.427_429delinsGAG (p.Phe143Glu) c.296_298delinsGAG (n.296_298delinsGAG) c.*65_*67delinsGAG (n.*65_*67delinsGAG) n.2554_2556delinsGAG n.476_478delinsGAG n.350_352delinsGAG c.226_228delinsGAG (p.Phe76Glu) | |
14 | g.90404691_90404693delinsGAT | CA2579769770 | CALM1 | c.424_426delinsGAT (p.Phe142Asp) c.316_318delinsGAT (p.Phe106Asp) c.427_429delinsGAT (p.Phe143Asp) c.296_298delinsGAT (n.296_298delinsGAT) c.*65_*67delinsGAT (n.*65_*67delinsGAT) n.2554_2556delinsGAT n.476_478delinsGAT n.350_352delinsGAT c.226_228delinsGAT (p.Phe76Asp) | |
14 | g.90404691_90404693delinsGCT | CA2579771741 | CALM1 | c.424_426delinsGCT (p.Phe142Ala) c.316_318delinsGCT (p.Phe106Ala) c.427_429delinsGCT (p.Phe143Ala) c.296_298delinsGCT (n.296_298delinsGCT) c.*65_*67delinsGCT (n.*65_*67delinsGCT) n.2554_2556delinsGCT n.476_478delinsGCT n.350_352delinsGCT c.226_228delinsGCT (p.Phe76Ala) | |
14 | g.90404691_90404693delinsGGG | CA2579773240 | CALM1 | c.424_426delinsGGG (p.Phe142Gly) c.316_318delinsGGG (p.Phe106Gly) c.427_429delinsGGG (p.Phe143Gly) c.296_298delinsGGG (n.296_298delinsGGG) c.*65_*67delinsGGG (n.*65_*67delinsGGG) n.2554_2556delinsGGG n.476_478delinsGGG n.350_352delinsGGG c.226_228delinsGGG (p.Phe76Gly) | |
14 | g.90404691_90404693delinsGGT | CA2579772330 | CALM1 | c.424_426delinsGGT (p.Phe142Gly) c.316_318delinsGGT (p.Phe106Gly) c.427_429delinsGGT (p.Phe143Gly) c.296_298delinsGGT (n.296_298delinsGGT) c.*65_*67delinsGGT (n.*65_*67delinsGGT) n.2554_2556delinsGGT n.476_478delinsGGT n.350_352delinsGGT c.226_228delinsGGT (p.Phe76Gly) | |
14 | g.90404691_90404693delinsGTG | CA2579772131 | CALM1 | c.424_426delinsGTG (p.Phe142Val) c.316_318delinsGTG (p.Phe106Val) c.427_429delinsGTG (p.Phe143Val) c.296_298delinsGTG (n.296_298delinsGTG) c.*65_*67delinsGTG (n.*65_*67delinsGTG) n.2554_2556delinsGTG n.476_478delinsGTG n.350_352delinsGTG c.226_228delinsGTG (p.Phe76Val) | |
14 | g.90404691_90404693delinsGTT | CA2579770751 | CALM1 | c.424_426delinsGTT (p.Phe142Val) c.316_318delinsGTT (p.Phe106Val) c.427_429delinsGTT (p.Phe143Val) c.296_298delinsGTT (n.296_298delinsGTT) c.*65_*67delinsGTT (n.*65_*67delinsGTT) n.2554_2556delinsGTT n.476_478delinsGTT n.350_352delinsGTT c.226_228delinsGTT (p.Phe76Val) | |
14 | g.90404692T>A | CA390690449 | CALM1 | c.425T>A (p.Phe142Tyr) c.317T>A (p.Phe106Tyr) c.428T>A (p.Phe143Tyr) c.297T>A (n.297T>A) c.*66T>A (n.*66T>A) n.2555T>A n.477T>A n.351T>A c.227T>A (p.Phe76Tyr) | |
14 | g.90404692T>C | CA390690450 | CALM1 | c.425T>C (p.Phe142Ser) c.317T>C (p.Phe106Ser) c.428T>C (p.Phe143Ser) c.297T>C (n.297T>C) c.*66T>C (n.*66T>C) n.2555T>C n.477T>C n.351T>C c.227T>C (p.Phe76Ser) | |
14 | g.90404692T>G | CA390690453 | CALM1 | c.425T>G (p.Phe142Cys) c.317T>G (p.Phe106Cys) c.428T>G (p.Phe143Cys) c.297T>G (n.297T>G) c.*66T>G (n.*66T>G) n.2555T>G n.477T>G n.351T>G c.227T>G (p.Phe76Cys) | |
14 | g.90404692_90404693delinsAA | CA2579770850 | CALM1 | c.425_426delinsAA (p.Phe142Ter) c.317_318delinsAA (p.Phe106Ter) c.428_429delinsAA (p.Phe143Ter) c.297_298delinsAA (n.297_298delinsAA) c.*66_*67delinsAA (n.*66_*67delinsAA) n.2555_2556delinsAA n.477_478delinsAA n.351_352delinsAA c.227_228delinsAA (p.Phe76Ter) | |
14 | g.90404692_90404693delinsAG | CA2579772627 | CALM1 | c.425_426delinsAG (p.Phe142Ter) c.317_318delinsAG (p.Phe106Ter) c.428_429delinsAG (p.Phe143Ter) c.297_298delinsAG (n.297_298delinsAG) c.*66_*67delinsAG (n.*66_*67delinsAG) n.2555_2556delinsAG n.477_478delinsAG n.351_352delinsAG c.227_228delinsAG (p.Phe76Ter) | |
14 | g.90404692_90404693delinsAT | CA2579771233 | CALM1 | c.425_426delinsAT (p.Phe142Tyr) c.317_318delinsAT (p.Phe106Tyr) c.428_429delinsAT (p.Phe143Tyr) c.297_298delinsAT (n.297_298delinsAT) c.*66_*67delinsAT (n.*66_*67delinsAT) n.2555_2556delinsAT n.477_478delinsAT n.351_352delinsAT c.227_228delinsAT (p.Phe76Tyr) | |
14 | g.90404692_90404693delinsCA | CA2579773917 | CALM1 | c.425_426delinsCA (p.Phe142Ser) c.317_318delinsCA (p.Phe106Ser) c.428_429delinsCA (p.Phe143Ser) c.297_298delinsCA (n.297_298delinsCA) c.*66_*67delinsCA (n.*66_*67delinsCA) n.2555_2556delinsCA n.477_478delinsCA n.351_352delinsCA c.227_228delinsCA (p.Phe76Ser) | |
14 | g.90404692_90404693delinsCG | CA2579773314 | CALM1 | c.425_426delinsCG (p.Phe142Ser) c.317_318delinsCG (p.Phe106Ser) c.428_429delinsCG (p.Phe143Ser) c.297_298delinsCG (n.297_298delinsCG) c.*66_*67delinsCG (n.*66_*67delinsCG) n.2555_2556delinsCG n.477_478delinsCG n.351_352delinsCG c.227_228delinsCG (p.Phe76Ser) | |
14 | g.90404692_90404693delinsCT | CA2579773355 | CALM1 | c.425_426delinsCT (p.Phe142Ser) c.317_318delinsCT (p.Phe106Ser) c.428_429delinsCT (p.Phe143Ser) c.297_298delinsCT (n.297_298delinsCT) c.*66_*67delinsCT (n.*66_*67delinsCT) n.2555_2556delinsCT n.477_478delinsCT n.351_352delinsCT c.227_228delinsCT (p.Phe76Ser) | |
14 | g.90404692_90404693delinsGG | CA2579772647 | CALM1 | c.425_426delinsGG (p.Phe142Trp) c.317_318delinsGG (p.Phe106Trp) c.428_429delinsGG (p.Phe143Trp) c.297_298delinsGG (n.297_298delinsGG) c.*66_*67delinsGG (n.*66_*67delinsGG) n.2555_2556delinsGG n.477_478delinsGG n.351_352delinsGG c.227_228delinsGG (p.Phe76Trp) | |
14 | g.90404692_90404693delinsGT | CA2579772521 | CALM1 | c.425_426delinsGT (p.Phe142Cys) c.317_318delinsGT (p.Phe106Cys) c.428_429delinsGT (p.Phe143Cys) c.297_298delinsGT (n.297_298delinsGT) c.*66_*67delinsGT (n.*66_*67delinsGT) n.2555_2556delinsGT n.477_478delinsGT n.351_352delinsGT c.227_228delinsGT (p.Phe76Cys) | |
14 | g.90404693C>A | CA390690455 | CALM1 | c.426C>A (p.Phe142Leu) c.318C>A (p.Phe106Leu) c.429C>A (p.Phe143Leu) c.298C>A (n.298C>A) c.*67C>A (n.*67C>A) n.2556C>A n.478C>A n.352C>A c.228C>A (p.Phe76Leu) | ClinVar dbSNP |
14 | g.90404693C= | CA2154484457 | CALM1 | c.426C= (p.Phe142=) c.318C= (p.Phe106=) c.429C= (p.Phe143=) c.298C= (n.298C=) c.*67C= (n.*67C=) n.2556C= n.478C= n.352C= c.228C= (p.Phe76=) | |
14 | g.90404693C>G | CA186015 | CALM1 | c.426C>G (p.Phe142Leu) c.318C>G (p.Phe106Leu) c.429C>G (p.Phe143Leu) c.298C>G (n.298C>G) c.*67C>G (n.*67C>G) n.2556C>G n.478C>G n.352C>G c.228C>G (p.Phe76Leu) | ClinVar dbSNP |
14 | g.90404693C>T | CA7305829 | CALM1 | c.426C>T (p.Phe142=) c.318C>T (p.Phe106=) c.429C>T (p.Phe143=) c.298C>T (n.298C>T) c.*67C>T (n.*67C>T) n.2556C>T n.478C>T n.352C>T c.228C>T (p.Phe76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404694G>A | CA390690459 | CALM1 | c.427G>A (p.Val143Ile) c.319G>A (p.Val107Ile) c.430G>A (p.Val144Ile) c.299G>A (n.299G>A) c.*68G>A (n.*68G>A) n.2557G>A n.479G>A n.353G>A c.229G>A (p.Val77Ile) | gnomAD v4 |
14 | g.90404694G>C | CA7305830 | CALM1 | c.427G>C (p.Val143Leu) c.319G>C (p.Val107Leu) c.430G>C (p.Val144Leu) c.299G>C (n.299G>C) c.*68G>C (n.*68G>C) n.2557G>C n.479G>C n.353G>C c.229G>C (p.Val77Leu) | dbSNP ExAC gnomAD v2 |
14 | g.90404694G= | CA2154484469 | CALM1 | c.427G= (p.Val143=) c.319G= (p.Val107=) c.430G= (p.Val144=) c.299G= (n.299G=) c.*68G= (n.*68G=) n.2557G= n.479G= n.353G= c.229G= (p.Val77=) | |
14 | g.90404694G>T | CA390690462 | CALM1 | c.427G>T (p.Val143Leu) c.319G>T (p.Val107Leu) c.430G>T (p.Val144Leu) c.299G>T (n.299G>T) c.*68G>T (n.*68G>T) n.2557G>T n.479G>T n.353G>T c.229G>T (p.Val77Leu) | |
14 | g.90404694_90404695delinsAA | CA2579772832 | CALM1 | c.427_428delinsAA (p.Val143Lys) c.319_320delinsAA (p.Val107Lys) c.430_431delinsAA (p.Val144Lys) c.299_300delinsAA (n.299_300delinsAA) c.*68_*69delinsAA (n.*68_*69delinsAA) n.2557_2558delinsAA n.479_480delinsAA n.353_354delinsAA c.229_230delinsAA (p.Val77Lys) | |
14 | g.90404694_90404695delinsAC | CA2579771624 | CALM1 | c.427_428delinsAC (p.Val143Thr) c.319_320delinsAC (p.Val107Thr) c.430_431delinsAC (p.Val144Thr) c.299_300delinsAC (n.299_300delinsAC) c.*68_*69delinsAC (n.*68_*69delinsAC) n.2557_2558delinsAC n.479_480delinsAC n.353_354delinsAC c.229_230delinsAC (p.Val77Thr) | |
14 | g.90404694_90404695delinsAG | CA2579771160 | CALM1 | c.427_428delinsAG (p.Val143Arg) c.319_320delinsAG (p.Val107Arg) c.430_431delinsAG (p.Val144Arg) c.299_300delinsAG (n.299_300delinsAG) c.*68_*69delinsAG (n.*68_*69delinsAG) n.2557_2558delinsAG n.479_480delinsAG n.353_354delinsAG c.229_230delinsAG (p.Val77Arg) | |
14 | g.90404694_90404695delinsCC | CA2579771679 | CALM1 | c.427_428delinsCC (p.Val143Pro) c.319_320delinsCC (p.Val107Pro) c.430_431delinsCC (p.Val144Pro) c.299_300delinsCC (n.299_300delinsCC) c.*68_*69delinsCC (n.*68_*69delinsCC) n.2557_2558delinsCC n.479_480delinsCC n.353_354delinsCC c.229_230delinsCC (p.Val77Pro) | |
14 | g.90404694_90404695delinsTC | CA2579770668 | CALM1 | c.427_428delinsTC (p.Val143Ser) c.319_320delinsTC (p.Val107Ser) c.430_431delinsTC (p.Val144Ser) c.299_300delinsTC (n.299_300delinsTC) c.*68_*69delinsTC (n.*68_*69delinsTC) n.2557_2558delinsTC n.479_480delinsTC n.353_354delinsTC c.229_230delinsTC (p.Val77Ser) | |
14 | g.90404694_90404695delinsTG | CA2579770954 | CALM1 | c.427_428delinsTG (p.Val143Ter) c.319_320delinsTG (p.Val107Ter) c.430_431delinsTG (p.Val144Ter) c.299_300delinsTG (n.299_300delinsTG) c.*68_*69delinsTG (n.*68_*69delinsTG) n.2557_2558delinsTG n.479_480delinsTG n.353_354delinsTG c.229_230delinsTG (p.Val77Ter) | |
14 | g.90404694_90404696delinsAAG | CA2579772133 | CALM1 | c.427_429delinsAAG (p.Val143Lys) c.319_321delinsAAG (p.Val107Lys) c.430_432delinsAAG (p.Val144Lys) c.299_301delinsAAG (n.299_301delinsAAG) c.*68_*70delinsAAG (n.*68_*70delinsAAG) n.2557_2559delinsAAG n.479_481delinsAAG n.353_355delinsAAG c.229_231delinsAAG (p.Val77Lys) | |
14 | g.90404694_90404696delinsAAT | CA2579773185 | CALM1 | c.427_429delinsAAT (p.Val143Asn) c.319_321delinsAAT (p.Val107Asn) c.430_432delinsAAT (p.Val144Asn) c.299_301delinsAAT (n.299_301delinsAAT) c.*68_*70delinsAAT (n.*68_*70delinsAAT) n.2557_2559delinsAAT n.479_481delinsAAT n.353_355delinsAAT c.229_231delinsAAT (p.Val77Asn) | |
14 | g.90404694_90404696delinsACT | CA2579773826 | CALM1 | c.427_429delinsACT (p.Val143Thr) c.319_321delinsACT (p.Val107Thr) c.430_432delinsACT (p.Val144Thr) c.299_301delinsACT (n.299_301delinsACT) c.*68_*70delinsACT (n.*68_*70delinsACT) n.2557_2559delinsACT n.479_481delinsACT n.353_355delinsACT c.229_231delinsACT (p.Val77Thr) | |
14 | g.90404694_90404696delinsATG | CA2579770411 | CALM1 | c.427_429delinsATG (p.Val143Met) c.319_321delinsATG (p.Val107Met) c.430_432delinsATG (p.Val144Met) c.299_301delinsATG (n.299_301delinsATG) c.*68_*70delinsATG (n.*68_*70delinsATG) n.2557_2559delinsATG n.479_481delinsATG n.353_355delinsATG c.229_231delinsATG (p.Val77Met) | |
14 | g.90404694_90404696delinsATT | CA2579772865 | CALM1 | c.427_429delinsATT (p.Val143Ile) c.319_321delinsATT (p.Val107Ile) c.430_432delinsATT (p.Val144Ile) c.299_301delinsATT (n.299_301delinsATT) c.*68_*70delinsATT (n.*68_*70delinsATT) n.2557_2559delinsATT n.479_481delinsATT n.353_355delinsATT c.229_231delinsATT (p.Val77Ile) | |
14 | g.90404694_90404696delinsCAT | CA2579772286 | CALM1 | c.427_429delinsCAT (p.Val143His) c.319_321delinsCAT (p.Val107His) c.430_432delinsCAT (p.Val144His) c.299_301delinsCAT (n.299_301delinsCAT) c.*68_*70delinsCAT (n.*68_*70delinsCAT) n.2557_2559delinsCAT n.479_481delinsCAT n.353_355delinsCAT c.229_231delinsCAT (p.Val77His) | |
14 | g.90404694_90404696delinsCTC | CA2579772564 | CALM1 | c.427_429delinsCTC (p.Val143Leu) c.319_321delinsCTC (p.Val107Leu) c.430_432delinsCTC (p.Val144Leu) c.299_301delinsCTC (n.299_301delinsCTC) c.*68_*70delinsCTC (n.*68_*70delinsCTC) n.2557_2559delinsCTC n.479_481delinsCTC n.353_355delinsCTC c.229_231delinsCTC (p.Val77Leu) | |
14 | g.90404694_90404696delinsCTT | CA2579770474 | CALM1 | c.427_429delinsCTT (p.Val143Leu) c.319_321delinsCTT (p.Val107Leu) c.430_432delinsCTT (p.Val144Leu) c.299_301delinsCTT (n.299_301delinsCTT) c.*68_*70delinsCTT (n.*68_*70delinsCTT) n.2557_2559delinsCTT n.479_481delinsCTT n.353_355delinsCTT c.229_231delinsCTT (p.Val77Leu) | |
14 | g.90404694_90404696delinsTCT | CA2579769885 | CALM1 | c.427_429delinsTCT (p.Val143Ser) c.319_321delinsTCT (p.Val107Ser) c.430_432delinsTCT (p.Val144Ser) c.299_301delinsTCT (n.299_301delinsTCT) c.*68_*70delinsTCT (n.*68_*70delinsTCT) n.2557_2559delinsTCT n.479_481delinsTCT n.353_355delinsTCT c.229_231delinsTCT (p.Val77Ser) | |
14 | g.90404694_90404696delinsTTG | CA2579770285 | CALM1 | c.427_429delinsTTG (p.Val143Leu) c.319_321delinsTTG (p.Val107Leu) c.430_432delinsTTG (p.Val144Leu) c.299_301delinsTTG (n.299_301delinsTTG) c.*68_*70delinsTTG (n.*68_*70delinsTTG) n.2557_2559delinsTTG n.479_481delinsTTG n.353_355delinsTTG c.229_231delinsTTG (p.Val77Leu) | |
14 | g.90404694_90404696delinsTTT | CA2579769823 | CALM1 | c.427_429delinsTTT (p.Val143Phe) c.319_321delinsTTT (p.Val107Phe) c.430_432delinsTTT (p.Val144Phe) c.299_301delinsTTT (n.299_301delinsTTT) c.*68_*70delinsTTT (n.*68_*70delinsTTT) n.2557_2559delinsTTT n.479_481delinsTTT n.353_355delinsTTT c.229_231delinsTTT (p.Val77Phe) | |
14 | g.90404695T>A | CA390690464 | CALM1 | c.428T>A (p.Val143Glu) c.320T>A (p.Val107Glu) c.431T>A (p.Val144Glu) c.300T>A (n.300T>A) c.*69T>A (n.*69T>A) n.2558T>A n.480T>A n.354T>A c.230T>A (p.Val77Glu) | |
14 | g.90404695T>C | CA390690465 | CALM1 | c.428T>C (p.Val143Ala) c.320T>C (p.Val107Ala) c.431T>C (p.Val144Ala) c.300T>C (n.300T>C) c.*69T>C (n.*69T>C) n.2558T>C n.480T>C n.354T>C c.230T>C (p.Val77Ala) | |
14 | g.90404695T>G | CA390690467 | CALM1 | c.428T>G (p.Val143Gly) c.320T>G (p.Val107Gly) c.431T>G (p.Val144Gly) c.300T>G (n.300T>G) c.*69T>G (n.*69T>G) n.2558T>G n.480T>G n.354T>G c.230T>G (p.Val77Gly) | |
14 | g.90404695_90404696delinsAG | CA2579770770 | CALM1 | c.428_429delinsAG (p.Val143Glu) c.320_321delinsAG (p.Val107Glu) c.431_432delinsAG (p.Val144Glu) c.300_301delinsAG (n.300_301delinsAG) c.*69_*70delinsAG (n.*69_*70delinsAG) n.2558_2559delinsAG n.480_481delinsAG n.354_355delinsAG c.230_231delinsAG (p.Val77Glu) | |
14 | g.90404695_90404696delinsAT | CA2579770410 | CALM1 | c.428_429delinsAT (p.Val143Asp) c.320_321delinsAT (p.Val107Asp) c.431_432delinsAT (p.Val144Asp) c.300_301delinsAT (n.300_301delinsAT) c.*69_*70delinsAT (n.*69_*70delinsAT) n.2558_2559delinsAT n.480_481delinsAT n.354_355delinsAT c.230_231delinsAT (p.Val77Asp) | |
14 | g.90404695_90404696delinsCC | CA2579770156 | CALM1 | c.428_429delinsCC (p.Val143Ala) c.320_321delinsCC (p.Val107Ala) c.431_432delinsCC (p.Val144Ala) c.300_301delinsCC (n.300_301delinsCC) c.*69_*70delinsCC (n.*69_*70delinsCC) n.2558_2559delinsCC n.480_481delinsCC n.354_355delinsCC c.230_231delinsCC (p.Val77Ala) | |
14 | g.90404695_90404696delinsCG | CA2579770685 | CALM1 | c.428_429delinsCG (p.Val143Ala) c.320_321delinsCG (p.Val107Ala) c.431_432delinsCG (p.Val144Ala) c.300_301delinsCG (n.300_301delinsCG) c.*69_*70delinsCG (n.*69_*70delinsCG) n.2558_2559delinsCG n.480_481delinsCG n.354_355delinsCG c.230_231delinsCG (p.Val77Ala) | |
14 | g.90404695_90404696delinsCT | CA2579774245 | CALM1 | c.428_429delinsCT (p.Val143Ala) c.320_321delinsCT (p.Val107Ala) c.431_432delinsCT (p.Val144Ala) c.300_301delinsCT (n.300_301delinsCT) c.*69_*70delinsCT (n.*69_*70delinsCT) n.2558_2559delinsCT n.480_481delinsCT n.354_355delinsCT c.230_231delinsCT (p.Val77Ala) | |
14 | g.90404695_90404696delinsGC | CA2579772639 | CALM1 | c.428_429delinsGC (p.Val143Gly) c.320_321delinsGC (p.Val107Gly) c.431_432delinsGC (p.Val144Gly) c.300_301delinsGC (n.300_301delinsGC) c.*69_*70delinsGC (n.*69_*70delinsGC) n.2558_2559delinsGC n.480_481delinsGC n.354_355delinsGC c.230_231delinsGC (p.Val77Gly) | |
14 | g.90404695_90404696delinsGT | CA2579770206 | CALM1 | c.428_429delinsGT (p.Val143Gly) c.320_321delinsGT (p.Val107Gly) c.431_432delinsGT (p.Val144Gly) c.300_301delinsGT (n.300_301delinsGT) c.*69_*70delinsGT (n.*69_*70delinsGT) n.2558_2559delinsGT n.480_481delinsGT n.354_355delinsGT c.230_231delinsGT (p.Val77Gly) | |
14 | g.90404696A= | CA2154484477 | CALM1 | c.429A= (p.Val143=) c.321A= (p.Val107=) c.432A= (p.Val144=) c.301A= (n.301A=) c.*70A= (n.*70A=) n.2559A= n.481A= n.355A= c.231A= (p.Val77=) | |
14 | g.90404696A>C | CA487760926 | CALM1 | c.429A>C (p.Val143=) c.321A>C (p.Val107=) c.432A>C (p.Val144=) c.301A>C (n.301A>C) c.*70A>C (n.*70A>C) n.2559A>C n.481A>C n.355A>C c.231A>C (p.Val77=) | |
14 | g.90404696A>G | CA264948545 | CALM1 | c.429A>G (p.Val143=) c.321A>G (p.Val107=) c.432A>G (p.Val144=) c.301A>G (n.301A>G) c.*70A>G (n.*70A>G) n.2559A>G n.481A>G n.355A>G c.231A>G (p.Val77=) | dbSNP gnomAD v4 |
14 | g.90404696A>T | CA487760928 | CALM1 | c.429A>T (p.Val143=) c.321A>T (p.Val107=) c.432A>T (p.Val144=) c.301A>T (n.301A>T) c.*70A>T (n.*70A>T) n.2559A>T n.481A>T n.355A>T c.231A>T (p.Val77=) | |
14 | g.90404697C>A | CA390690472 | CALM1 | c.430C>A (p.Gln144Lys) c.322C>A (p.Gln108Lys) c.433C>A (p.Gln145Lys) c.302C>A (n.302C>A) c.*71C>A (n.*71C>A) n.2560C>A n.482C>A n.356C>A c.232C>A (p.Gln78Lys) | |
14 | g.90404697C= | CA2154484480 | CALM1 | c.430C= (p.Gln144=) c.322C= (p.Gln108=) c.433C= (p.Gln145=) c.302C= (n.302C=) c.*71C= (n.*71C=) n.2560C= n.482C= n.356C= c.232C= (p.Gln78=) | |
14 | g.90404697C>G | CA390690473 | CALM1 | c.430C>G (p.Gln144Glu) c.322C>G (p.Gln108Glu) c.433C>G (p.Gln145Glu) c.302C>G (n.302C>G) c.*71C>G (n.*71C>G) n.2560C>G n.482C>G n.356C>G c.232C>G (p.Gln78Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404697C>T | CA390690470 | CALM1 | c.430C>T (p.Gln144Ter) c.322C>T (p.Gln108Ter) c.433C>T (p.Gln145Ter) c.302C>T (n.302C>T) c.*71C>T (n.*71C>T) n.2560C>T n.482C>T n.356C>T c.232C>T (p.Gln78Ter) | |
14 | g.90404697_90404698delinsAC | CA2579771721 | CALM1 | c.430_431delinsAC (p.Gln144Thr) c.322_323delinsAC (p.Gln108Thr) c.433_434delinsAC (p.Gln145Thr) c.302_303delinsAC (n.302_303delinsAC) c.*71_*72delinsAC (n.*71_*72delinsAC) n.2560_2561delinsAC n.482_483delinsAC n.356_357delinsAC c.232_233delinsAC (p.Gln78Thr) | |
14 | g.90404697_90404698delinsAG | CA2579770912 | CALM1 | c.430_431delinsAG (p.Gln144Arg) c.322_323delinsAG (p.Gln108Arg) c.433_434delinsAG (p.Gln145Arg) c.302_303delinsAG (n.302_303delinsAG) c.*71_*72delinsAG (n.*71_*72delinsAG) n.2560_2561delinsAG n.482_483delinsAG n.356_357delinsAG c.232_233delinsAG (p.Gln78Arg) | |
14 | g.90404697_90404698delinsAT | CA2579774053 | CALM1 | c.430_431delinsAT (p.Gln144Met) c.322_323delinsAT (p.Gln108Met) c.433_434delinsAT (p.Gln145Met) c.302_303delinsAT (n.302_303delinsAT) c.*71_*72delinsAT (n.*71_*72delinsAT) n.2560_2561delinsAT n.482_483delinsAT n.356_357delinsAT c.232_233delinsAT (p.Gln78Met) | |
14 | g.90404697_90404698delinsGC | CA2579774150 | CALM1 | c.430_431delinsGC (p.Gln144Ala) c.322_323delinsGC (p.Gln108Ala) c.433_434delinsGC (p.Gln145Ala) c.302_303delinsGC (n.302_303delinsGC) c.*71_*72delinsGC (n.*71_*72delinsGC) n.2560_2561delinsGC n.482_483delinsGC n.356_357delinsGC c.232_233delinsGC (p.Gln78Ala) | |
14 | g.90404697_90404698delinsGG | CA2579771019 | CALM1 | c.430_431delinsGG (p.Gln144Gly) c.322_323delinsGG (p.Gln108Gly) c.433_434delinsGG (p.Gln145Gly) c.302_303delinsGG (n.302_303delinsGG) c.*71_*72delinsGG (n.*71_*72delinsGG) n.2560_2561delinsGG n.482_483delinsGG n.356_357delinsGG c.232_233delinsGG (p.Gln78Gly) | |
14 | g.90404697_90404698delinsGT | CA2579774212 | CALM1 | c.430_431delinsGT (p.Gln144Val) c.322_323delinsGT (p.Gln108Val) c.433_434delinsGT (p.Gln145Val) c.302_303delinsGT (n.302_303delinsGT) c.*71_*72delinsGT (n.*71_*72delinsGT) n.2560_2561delinsGT n.482_483delinsGT n.356_357delinsGT c.232_233delinsGT (p.Gln78Val) | |
14 | g.90404697_90404698delinsTC | CA2579770304 | CALM1 | c.430_431delinsTC (p.Gln144Ser) c.322_323delinsTC (p.Gln108Ser) c.433_434delinsTC (p.Gln145Ser) c.302_303delinsTC (n.302_303delinsTC) c.*71_*72delinsTC (n.*71_*72delinsTC) n.2560_2561delinsTC n.482_483delinsTC n.356_357delinsTC c.232_233delinsTC (p.Gln78Ser) | |
14 | g.90404697_90404698delinsTG | CA2579772756 | CALM1 | c.430_431delinsTG (p.Gln144Trp) c.322_323delinsTG (p.Gln108Trp) c.433_434delinsTG (p.Gln145Trp) c.302_303delinsTG (n.302_303delinsTG) c.*71_*72delinsTG (n.*71_*72delinsTG) n.2560_2561delinsTG n.482_483delinsTG n.356_357delinsTG c.232_233delinsTG (p.Gln78Trp) | |
14 | g.90404697_90404698delinsTT | CA2579771315 | CALM1 | c.430_431delinsTT (p.Gln144Leu) c.322_323delinsTT (p.Gln108Leu) c.433_434delinsTT (p.Gln145Leu) c.302_303delinsTT (n.302_303delinsTT) c.*71_*72delinsTT (n.*71_*72delinsTT) n.2560_2561delinsTT n.482_483delinsTT n.356_357delinsTT c.232_233delinsTT (p.Gln78Leu) | |
14 | g.90404697_90404699delinsAAT | CA2579771905 | CALM1 | c.430_432delinsAAT (p.Gln144Asn) c.322_324delinsAAT (p.Gln108Asn) c.433_435delinsAAT (p.Gln145Asn) c.302_304delinsAAT (n.302_304delinsAAT) c.*71_*73delinsAAT (n.*71_*73delinsAAT) n.2560_2562delinsAAT n.482_484delinsAAT n.356_358delinsAAT c.232_234delinsAAT (p.Gln78Asn) | |
14 | g.90404697_90404699delinsACT | CA2579771177 | CALM1 | c.430_432delinsACT (p.Gln144Thr) c.322_324delinsACT (p.Gln108Thr) c.433_435delinsACT (p.Gln145Thr) c.302_304delinsACT (n.302_304delinsACT) c.*71_*73delinsACT (n.*71_*73delinsACT) n.2560_2562delinsACT n.482_484delinsACT n.356_358delinsACT c.232_234delinsACT (p.Gln78Thr) | |
14 | g.90404697_90404699delinsGAT | CA2579770133 | CALM1 | c.430_432delinsGAT (p.Gln144Asp) c.322_324delinsGAT (p.Gln108Asp) c.433_435delinsGAT (p.Gln145Asp) c.302_304delinsGAT (n.302_304delinsGAT) c.*71_*73delinsGAT (n.*71_*73delinsGAT) n.2560_2562delinsGAT n.482_484delinsGAT n.356_358delinsGAT c.232_234delinsGAT (p.Gln78Asp) | |
14 | g.90404697_90404699delinsGCT | CA2579773972 | CALM1 | c.430_432delinsGCT (p.Gln144Ala) c.322_324delinsGCT (p.Gln108Ala) c.433_435delinsGCT (p.Gln145Ala) c.302_304delinsGCT (n.302_304delinsGCT) c.*71_*73delinsGCT (n.*71_*73delinsGCT) n.2560_2562delinsGCT n.482_484delinsGCT n.356_358delinsGCT c.232_234delinsGCT (p.Gln78Ala) | |
14 | g.90404697_90404699delinsGGT | CA2579773916 | CALM1 | c.430_432delinsGGT (p.Gln144Gly) c.322_324delinsGGT (p.Gln108Gly) c.433_435delinsGGT (p.Gln145Gly) c.302_304delinsGGT (n.302_304delinsGGT) c.*71_*73delinsGGT (n.*71_*73delinsGGT) n.2560_2562delinsGGT n.482_484delinsGGT n.356_358delinsGGT c.232_234delinsGGT (p.Gln78Gly) | |
14 | g.90404697_90404699delinsGTT | CA2579770602 | CALM1 | c.430_432delinsGTT (p.Gln144Val) c.322_324delinsGTT (p.Gln108Val) c.433_435delinsGTT (p.Gln145Val) c.302_304delinsGTT (n.302_304delinsGTT) c.*71_*73delinsGTT (n.*71_*73delinsGTT) n.2560_2562delinsGTT n.482_484delinsGTT n.356_358delinsGTT c.232_234delinsGTT (p.Gln78Val) | |
14 | g.90404697_90404699delinsTAA | CA2579771273 | CALM1 | c.430_432delinsTAA (p.Gln144Ter) c.322_324delinsTAA (p.Gln108Ter) c.433_435delinsTAA (p.Gln145Ter) c.302_304delinsTAA (n.302_304delinsTAA) c.*71_*73delinsTAA (n.*71_*73delinsTAA) n.2560_2562delinsTAA n.482_484delinsTAA n.356_358delinsTAA c.232_234delinsTAA (p.Gln78Ter) | |
14 | g.90404697_90404699delinsTAC | CA2579770014 | CALM1 | c.430_432delinsTAC (p.Gln144Tyr) c.322_324delinsTAC (p.Gln108Tyr) c.433_435delinsTAC (p.Gln145Tyr) c.302_304delinsTAC (n.302_304delinsTAC) c.*71_*73delinsTAC (n.*71_*73delinsTAC) n.2560_2562delinsTAC n.482_484delinsTAC n.356_358delinsTAC c.232_234delinsTAC (p.Gln78Tyr) | |
14 | g.90404697_90404699delinsTAT | CA2579773029 | CALM1 | c.430_432delinsTAT (p.Gln144Tyr) c.322_324delinsTAT (p.Gln108Tyr) c.433_435delinsTAT (p.Gln145Tyr) c.302_304delinsTAT (n.302_304delinsTAT) c.*71_*73delinsTAT (n.*71_*73delinsTAT) n.2560_2562delinsTAT n.482_484delinsTAT n.356_358delinsTAT c.232_234delinsTAT (p.Gln78Tyr) | |
14 | g.90404697_90404699delinsTCT | CA2579771427 | CALM1 | c.430_432delinsTCT (p.Gln144Ser) c.322_324delinsTCT (p.Gln108Ser) c.433_435delinsTCT (p.Gln145Ser) c.302_304delinsTCT (n.302_304delinsTCT) c.*71_*73delinsTCT (n.*71_*73delinsTCT) n.2560_2562delinsTCT n.482_484delinsTCT n.356_358delinsTCT c.232_234delinsTCT (p.Gln78Ser) | |
14 | g.90404697_90404699delinsTGA | CA2579770059 | CALM1 | c.430_432delinsTGA (p.Gln144Ter) c.322_324delinsTGA (p.Gln108Ter) c.433_435delinsTGA (p.Gln145Ter) c.302_304delinsTGA (n.302_304delinsTGA) c.*71_*73delinsTGA (n.*71_*73delinsTGA) n.2560_2562delinsTGA n.482_484delinsTGA n.356_358delinsTGA c.232_234delinsTGA (p.Gln78Ter) | |
14 | g.90404697_90404699delinsTGT | CA2579774202 | CALM1 | c.430_432delinsTGT (p.Gln144Cys) c.322_324delinsTGT (p.Gln108Cys) c.433_435delinsTGT (p.Gln145Cys) c.302_304delinsTGT (n.302_304delinsTGT) c.*71_*73delinsTGT (n.*71_*73delinsTGT) n.2560_2562delinsTGT n.482_484delinsTGT n.356_358delinsTGT c.232_234delinsTGT (p.Gln78Cys) | |
14 | g.90404697_90404699delinsTTT | CA2579770172 | CALM1 | c.430_432delinsTTT (p.Gln144Phe) c.322_324delinsTTT (p.Gln108Phe) c.433_435delinsTTT (p.Gln145Phe) c.302_304delinsTTT (n.302_304delinsTTT) c.*71_*73delinsTTT (n.*71_*73delinsTTT) n.2560_2562delinsTTT n.482_484delinsTTT n.356_358delinsTTT c.232_234delinsTTT (p.Gln78Phe) | |
14 | g.90404698A>C | CA390690476 | CALM1 | c.431A>C (p.Gln144Pro) c.323A>C (p.Gln108Pro) c.434A>C (p.Gln145Pro) c.303A>C (n.303A>C) c.*72A>C (n.*72A>C) n.2561A>C n.483A>C n.357A>C c.233A>C (p.Gln78Pro) | |
14 | g.90404698A>G | CA390690478 | CALM1 | c.431A>G (p.Gln144Arg) c.323A>G (p.Gln108Arg) c.434A>G (p.Gln145Arg) c.303A>G (n.303A>G) c.*72A>G (n.*72A>G) n.2561A>G n.483A>G n.357A>G c.233A>G (p.Gln78Arg) | |
14 | g.90404698A>T | CA390690479 | CALM1 | c.431A>T (p.Gln144Leu) c.323A>T (p.Gln108Leu) c.434A>T (p.Gln145Leu) c.303A>T (n.303A>T) c.*72A>T (n.*72A>T) n.2561A>T n.483A>T n.357A>T c.233A>T (p.Gln78Leu) | |
14 | g.90404698_90404699delinsCA | CA2579770037 | CALM1 | c.431_432delinsCA (p.Gln144Pro) c.323_324delinsCA (p.Gln108Pro) c.434_435delinsCA (p.Gln145Pro) c.303_304delinsCA (n.303_304delinsCA) c.*72_*73delinsCA (n.*72_*73delinsCA) n.2561_2562delinsCA n.483_484delinsCA n.357_358delinsCA c.233_234delinsCA (p.Gln78Pro) | |
14 | g.90404698_90404699delinsCT | CA2579774299 | CALM1 | c.431_432delinsCT (p.Gln144Pro) c.323_324delinsCT (p.Gln108Pro) c.434_435delinsCT (p.Gln145Pro) c.303_304delinsCT (n.303_304delinsCT) c.*72_*73delinsCT (n.*72_*73delinsCT) n.2561_2562delinsCT n.483_484delinsCT n.357_358delinsCT c.233_234delinsCT (p.Gln78Pro) | |
14 | g.90404698_90404699delinsGA | CA2579770582 | CALM1 | c.431_432delinsGA (p.Gln144Arg) c.323_324delinsGA (p.Gln108Arg) c.434_435delinsGA (p.Gln145Arg) c.303_304delinsGA (n.303_304delinsGA) c.*72_*73delinsGA (n.*72_*73delinsGA) n.2561_2562delinsGA n.483_484delinsGA n.357_358delinsGA c.233_234delinsGA (p.Gln78Arg) | |
14 | g.90404698_90404699delinsGT | CA2579772862 | CALM1 | c.431_432delinsGT (p.Gln144Arg) c.323_324delinsGT (p.Gln108Arg) c.434_435delinsGT (p.Gln145Arg) c.303_304delinsGT (n.303_304delinsGT) c.*72_*73delinsGT (n.*72_*73delinsGT) n.2561_2562delinsGT n.483_484delinsGT n.357_358delinsGT c.233_234delinsGT (p.Gln78Arg) | |
14 | g.90404698_90404699delinsTA | CA2579771727 | CALM1 | c.431_432delinsTA (p.Gln144Leu) c.323_324delinsTA (p.Gln108Leu) c.434_435delinsTA (p.Gln145Leu) c.303_304delinsTA (n.303_304delinsTA) c.*72_*73delinsTA (n.*72_*73delinsTA) n.2561_2562delinsTA n.483_484delinsTA n.357_358delinsTA c.233_234delinsTA (p.Gln78Leu) | |
14 | g.90404698_90404699delinsTT | CA2579770090 | CALM1 | c.431_432delinsTT (p.Gln144Leu) c.323_324delinsTT (p.Gln108Leu) c.434_435delinsTT (p.Gln145Leu) c.303_304delinsTT (n.303_304delinsTT) c.*72_*73delinsTT (n.*72_*73delinsTT) n.2561_2562delinsTT n.483_484delinsTT n.357_358delinsTT c.233_234delinsTT (p.Gln78Leu) | |
14 | g.90404699G>A | CA487760934 | CALM1 | c.432G>A (p.Gln144=) c.324G>A (p.Gln108=) c.435G>A (p.Gln145=) c.304G>A (n.304G>A) c.*73G>A (n.*73G>A) n.2562G>A n.484G>A n.358G>A c.234G>A (p.Gln78=) | |
14 | g.90404699G>C | CA390690481 | CALM1 | c.432G>C (p.Gln144His) c.324G>C (p.Gln108His) c.435G>C (p.Gln145His) c.304G>C (n.304G>C) c.*73G>C (n.*73G>C) n.2562G>C n.484G>C n.358G>C c.234G>C (p.Gln78His) | |
14 | g.90404699G>T | CA390690483 | CALM1 | c.432G>T (p.Gln144His) c.324G>T (p.Gln108His) c.435G>T (p.Gln145His) c.304G>T (n.304G>T) c.*73G>T (n.*73G>T) n.2562G>T n.484G>T n.358G>T c.234G>T (p.Gln78His) | |
14 | g.90404704_90404706del | CA645573115 | CALM1 | c.437_439del (p.Met146del) c.329_331del (p.Met110del) c.440_442del (p.Met147del) c.309_311del (n.309_311del) c.*78_*80del (n.*78_*80del) n.2567_2569del n.489_491del n.363_365del c.239_241del (p.Met80del) | COSMIC |
14 | g.90404700A>C | CA390690487 | CALM1 | c.433A>C (p.Met145Leu) c.325A>C (p.Met109Leu) c.436A>C (p.Met146Leu) c.305A>C (n.305A>C) c.*74A>C (n.*74A>C) n.2563A>C n.485A>C n.359A>C c.235A>C (p.Met79Leu) | |
14 | g.90404700A>G | CA390690486 | CALM1 | c.433A>G (p.Met145Val) c.325A>G (p.Met109Val) c.436A>G (p.Met146Val) c.305A>G (n.305A>G) c.*74A>G (n.*74A>G) n.2563A>G n.485A>G n.359A>G c.235A>G (p.Met79Val) | |
14 | g.90404700A>T | CA390690485 | CALM1 | c.433A>T (p.Met145Leu) c.325A>T (p.Met109Leu) c.436A>T (p.Met146Leu) c.305A>T (n.305A>T) c.*74A>T (n.*74A>T) n.2563A>T n.485A>T n.359A>T c.235A>T (p.Met79Leu) | |
14 | g.90404700_90404701delinsCA | CA2579773746 | CALM1 | c.433_434delinsCA (p.Met145Gln) c.325_326delinsCA (p.Met109Gln) c.436_437delinsCA (p.Met146Gln) c.305_306delinsCA (n.305_306delinsCA) c.*74_*75delinsCA (n.*74_*75delinsCA) n.2563_2564delinsCA n.485_486delinsCA n.359_360delinsCA c.235_236delinsCA (p.Met79Gln) | |
14 | g.90404700_90404701delinsGA | CA2579772013 | CALM1 | c.433_434delinsGA (p.Met145Glu) c.325_326delinsGA (p.Met109Glu) c.436_437delinsGA (p.Met146Glu) c.305_306delinsGA (n.305_306delinsGA) c.*74_*75delinsGA (n.*74_*75delinsGA) n.2563_2564delinsGA n.485_486delinsGA n.359_360delinsGA c.235_236delinsGA (p.Met79Glu) | |
14 | g.90404700_90404701delinsGC | CA2579773402 | CALM1 | c.433_434delinsGC (p.Met145Ala) c.325_326delinsGC (p.Met109Ala) c.436_437delinsGC (p.Met146Ala) c.305_306delinsGC (n.305_306delinsGC) c.*74_*75delinsGC (n.*74_*75delinsGC) n.2563_2564delinsGC n.485_486delinsGC n.359_360delinsGC c.235_236delinsGC (p.Met79Ala) | |
14 | g.90404700_90404701delinsTC | CA2579772244 | CALM1 | c.433_434delinsTC (p.Met145Ser) c.325_326delinsTC (p.Met109Ser) c.436_437delinsTC (p.Met146Ser) c.305_306delinsTC (n.305_306delinsTC) c.*74_*75delinsTC (n.*74_*75delinsTC) n.2563_2564delinsTC n.485_486delinsTC n.359_360delinsTC c.235_236delinsTC (p.Met79Ser) | |
14 | g.90404700_90404702delinsGTA | CA2579770836 | CALM1 | c.433_435delinsGTA (p.Met145Val) c.325_327delinsGTA (p.Met109Val) c.436_438delinsGTA (p.Met146Val) c.305_307delinsGTA (n.305_307delinsGTA) c.*74_*76delinsGTA (n.*74_*76delinsGTA) n.2563_2565delinsGTA n.485_487delinsGTA n.359_361delinsGTA c.235_237delinsGTA (p.Met79Val) | |
14 | g.90404700_90404702delinsGTT | CA2579773426 | CALM1 | c.433_435delinsGTT (p.Met145Val) c.325_327delinsGTT (p.Met109Val) c.436_438delinsGTT (p.Met146Val) c.305_307delinsGTT (n.305_307delinsGTT) c.*74_*76delinsGTT (n.*74_*76delinsGTT) n.2563_2565delinsGTT n.485_487delinsGTT n.359_361delinsGTT c.235_237delinsGTT (p.Met79Val) | |
14 | g.90404701T>A | CA390690488 | CALM1 | c.434T>A (p.Met145Lys) c.326T>A (p.Met109Lys) c.437T>A (p.Met146Lys) c.306T>A (n.306T>A) c.*75T>A (n.*75T>A) n.2564T>A n.486T>A n.360T>A c.236T>A (p.Met79Lys) | |
14 | g.90404701T>C | CA390690489 | CALM1 | c.434T>C (p.Met145Thr) c.326T>C (p.Met109Thr) c.437T>C (p.Met146Thr) c.306T>C (n.306T>C) c.*75T>C (n.*75T>C) n.2564T>C n.486T>C n.360T>C c.236T>C (p.Met79Thr) | |
14 | g.90404701T>G | CA390690490 | CALM1 | c.434T>G (p.Met145Arg) c.326T>G (p.Met109Arg) c.437T>G (p.Met146Arg) c.306T>G (n.306T>G) c.*75T>G (n.*75T>G) n.2564T>G n.486T>G n.360T>G c.236T>G (p.Met79Arg) | |
14 | g.90404701_90404702delinsAT | CA2579773961 | CALM1 | c.434_435delinsAT (p.Met145Asn) c.326_327delinsAT (p.Met109Asn) c.437_438delinsAT (p.Met146Asn) c.306_307delinsAT (n.306_307delinsAT) c.*75_*76delinsAT (n.*75_*76delinsAT) n.2564_2565delinsAT n.486_487delinsAT n.360_361delinsAT c.236_237delinsAT (p.Met79Asn) | |
14 | g.90404701_90404702delinsCA | CA2579772329 | CALM1 | c.434_435delinsCA (p.Met145Thr) c.326_327delinsCA (p.Met109Thr) c.437_438delinsCA (p.Met146Thr) c.306_307delinsCA (n.306_307delinsCA) c.*75_*76delinsCA (n.*75_*76delinsCA) n.2564_2565delinsCA n.486_487delinsCA n.360_361delinsCA c.236_237delinsCA (p.Met79Thr) | |
14 | g.90404701_90404702delinsCT | CA2579770265 | CALM1 | c.434_435delinsCT (p.Met145Thr) c.326_327delinsCT (p.Met109Thr) c.437_438delinsCT (p.Met146Thr) c.306_307delinsCT (n.306_307delinsCT) c.*75_*76delinsCT (n.*75_*76delinsCT) n.2564_2565delinsCT n.486_487delinsCT n.360_361delinsCT c.236_237delinsCT (p.Met79Thr) | |
14 | g.90404701_90404702delinsGC | CA2579770562 | CALM1 | c.434_435delinsGC (p.Met145Ser) c.326_327delinsGC (p.Met109Ser) c.437_438delinsGC (p.Met146Ser) c.306_307delinsGC (n.306_307delinsGC) c.*75_*76delinsGC (n.*75_*76delinsGC) n.2564_2565delinsGC n.486_487delinsGC n.360_361delinsGC c.236_237delinsGC (p.Met79Ser) | |
14 | g.90404701_90404702delinsGT | CA2579773174 | CALM1 | c.434_435delinsGT (p.Met145Ser) c.326_327delinsGT (p.Met109Ser) c.437_438delinsGT (p.Met146Ser) c.306_307delinsGT (n.306_307delinsGT) c.*75_*76delinsGT (n.*75_*76delinsGT) n.2564_2565delinsGT n.486_487delinsGT n.360_361delinsGT c.236_237delinsGT (p.Met79Ser) | |
14 | g.90404701_90404702insCTAAAGGTAAGACTATGAAACACTGA | CA2511151948 | CALM1 | c.434_435insCTAAAGGTAAGACTATGAAACACTGA (p.Met145IlefsTer2) c.326_327insCTAAAGGTAAGACTATGAAACACTGA (p.Met109IlefsTer2) c.437_438insCTAAAGGTAAGACTATGAAACACTGA (p.Met146IlefsTer2) c.306_307insCTAAAGGTAAGACTATGAAACACTGA (n.306_307insCTAAAGGTAAGACTATGAAACACTGA) c.*75_*76insCTAAAGGTAAGACTATGAAACACTGA (n.*75_*76insCTAAAGGTAAGACTATGAAACACTGA) n.2564_2565insCTAAAGGTAAGACTATGAAACACTGA n.486_487insCTAAAGGTAAGACTATGAAACACTGA n.360_361insCTAAAGGTAAGACTATGAAACACTGA c.236_237insCTAAAGGTAAGACTATGAAACACTGA (p.Met79IlefsTer2) | |
14 | g.90404702G>A | CA390690491 | CALM1 | c.435G>A (p.Met145Ile) c.327G>A (p.Met109Ile) c.438G>A (p.Met146Ile) c.307G>A (n.307G>A) c.*76G>A (n.*76G>A) n.2565G>A n.487G>A n.361G>A c.237G>A (p.Met79Ile) | |
14 | g.90404702G>C | CA390690492 | CALM1 | c.435G>C (p.Met145Ile) c.327G>C (p.Met109Ile) c.438G>C (p.Met146Ile) c.307G>C (n.307G>C) c.*76G>C (n.*76G>C) n.2565G>C n.487G>C n.361G>C c.237G>C (p.Met79Ile) | |
14 | g.90404702G>T | CA390690494 | CALM1 | c.435G>T (p.Met145Ile) c.327G>T (p.Met109Ile) c.438G>T (p.Met146Ile) c.307G>T (n.307G>T) c.*76G>T (n.*76G>T) n.2565G>T n.487G>T n.361G>T c.237G>T (p.Met79Ile) | |
14 | g.90404703A>C | CA390690496 | CALM1 | c.436A>C (p.Met146Leu) c.328A>C (p.Met110Leu) c.439A>C (p.Met147Leu) c.308A>C (n.308A>C) c.*77A>C (n.*77A>C) n.2566A>C n.488A>C n.362A>C c.238A>C (p.Met80Leu) | |
14 | g.90404703A>G | CA390690500 | CALM1 | c.436A>G (p.Met146Val) c.328A>G (p.Met110Val) c.439A>G (p.Met147Val) c.308A>G (n.308A>G) c.*77A>G (n.*77A>G) n.2566A>G n.488A>G n.362A>G c.238A>G (p.Met80Val) | |
14 | g.90404703A>T | CA390690498 | CALM1 | c.436A>T (p.Met146Leu) c.328A>T (p.Met110Leu) c.439A>T (p.Met147Leu) c.308A>T (n.308A>T) c.*77A>T (n.*77A>T) n.2566A>T n.488A>T n.362A>T c.238A>T (p.Met80Leu) | |
14 | g.90404703_90404704delinsCA | CA2579771157 | CALM1 | c.436_437delinsCA (p.Met146Gln) c.328_329delinsCA (p.Met110Gln) c.439_440delinsCA (p.Met147Gln) c.308_309delinsCA (n.308_309delinsCA) c.*77_*78delinsCA (n.*77_*78delinsCA) n.2566_2567delinsCA n.488_489delinsCA n.362_363delinsCA c.238_239delinsCA (p.Met80Gln) | |
14 | g.90404703_90404704delinsCC | CA2579769868 | CALM1 | c.436_437delinsCC (p.Met146Pro) c.328_329delinsCC (p.Met110Pro) c.439_440delinsCC (p.Met147Pro) c.308_309delinsCC (n.308_309delinsCC) c.*77_*78delinsCC (n.*77_*78delinsCC) n.2566_2567delinsCC n.488_489delinsCC n.362_363delinsCC c.238_239delinsCC (p.Met80Pro) | |
14 | g.90404703_90404704delinsGA | CA2579772891 | CALM1 | c.436_437delinsGA (p.Met146Glu) c.328_329delinsGA (p.Met110Glu) c.439_440delinsGA (p.Met147Glu) c.308_309delinsGA (n.308_309delinsGA) c.*77_*78delinsGA (n.*77_*78delinsGA) n.2566_2567delinsGA n.488_489delinsGA n.362_363delinsGA c.238_239delinsGA (p.Met80Glu) | |
14 | g.90404703_90404704delinsGC | CA2579773537 | CALM1 | c.436_437delinsGC (p.Met146Ala) c.328_329delinsGC (p.Met110Ala) c.439_440delinsGC (p.Met147Ala) c.308_309delinsGC (n.308_309delinsGC) c.*77_*78delinsGC (n.*77_*78delinsGC) n.2566_2567delinsGC n.488_489delinsGC n.362_363delinsGC c.238_239delinsGC (p.Met80Ala) | |
14 | g.90404703_90404704delinsGG | CA2579772951 | CALM1 | c.436_437delinsGG (p.Met146Gly) c.328_329delinsGG (p.Met110Gly) c.439_440delinsGG (p.Met147Gly) c.308_309delinsGG (n.308_309delinsGG) c.*77_*78delinsGG (n.*77_*78delinsGG) n.2566_2567delinsGG n.488_489delinsGG n.362_363delinsGG c.238_239delinsGG (p.Met80Gly) | |
14 | g.90404703_90404704delinsTA | CA2579770295 | CALM1 | c.436_437delinsTA (p.Met146Ter) c.328_329delinsTA (p.Met110Ter) c.439_440delinsTA (p.Met147Ter) c.308_309delinsTA (n.308_309delinsTA) c.*77_*78delinsTA (n.*77_*78delinsTA) n.2566_2567delinsTA n.488_489delinsTA n.362_363delinsTA c.238_239delinsTA (p.Met80Ter) | |
14 | g.90404703_90404704delinsTC | CA2579772295 | CALM1 | c.436_437delinsTC (p.Met146Ser) c.328_329delinsTC (p.Met110Ser) c.439_440delinsTC (p.Met147Ser) c.308_309delinsTC (n.308_309delinsTC) c.*77_*78delinsTC (n.*77_*78delinsTC) n.2566_2567delinsTC n.488_489delinsTC n.362_363delinsTC c.238_239delinsTC (p.Met80Ser) | |
14 | g.90404703_90404705delinsGTA | CA2579769740 | CALM1 | c.436_438delinsGTA (p.Met146Val) c.328_330delinsGTA (p.Met110Val) c.439_441delinsGTA (p.Met147Val) c.308_310delinsGTA (n.308_310delinsGTA) c.*77_*79delinsGTA (n.*77_*79delinsGTA) n.2566_2568delinsGTA n.488_490delinsGTA n.362_364delinsGTA c.238_240delinsGTA (p.Met80Val) | |
14 | g.90404703_90404705delinsTTC | CA2579774074 | CALM1 | c.436_438delinsTTC (p.Met146Phe) c.328_330delinsTTC (p.Met110Phe) c.439_441delinsTTC (p.Met147Phe) c.308_310delinsTTC (n.308_310delinsTTC) c.*77_*79delinsTTC (n.*77_*79delinsTTC) n.2566_2568delinsTTC n.488_490delinsTTC n.362_364delinsTTC c.238_240delinsTTC (p.Met80Phe) | |
14 | g.90404704T>A | CA390690503 | CALM1 | c.437T>A (p.Met146Lys) c.329T>A (p.Met110Lys) c.440T>A (p.Met147Lys) c.309T>A (n.309T>A) c.*78T>A (n.*78T>A) n.2567T>A n.489T>A n.363T>A c.239T>A (p.Met80Lys) | |
14 | g.90404704T>C | CA390690505 | CALM1 | c.437T>C (p.Met146Thr) c.329T>C (p.Met110Thr) c.440T>C (p.Met147Thr) c.309T>C (n.309T>C) c.*78T>C (n.*78T>C) n.2567T>C n.489T>C n.363T>C c.239T>C (p.Met80Thr) | |
14 | g.90404704T>G | CA390690507 | CALM1 | c.437T>G (p.Met146Arg) c.329T>G (p.Met110Arg) c.440T>G (p.Met147Arg) c.309T>G (n.309T>G) c.*78T>G (n.*78T>G) n.2567T>G n.489T>G n.363T>G c.239T>G (p.Met80Arg) | |
14 | g.90404704_90404705delinsAA | CA2579770119 | CALM1 | c.437_438delinsAA (p.Met146Lys) c.329_330delinsAA (p.Met110Lys) c.440_441delinsAA (p.Met147Lys) c.309_310delinsAA (n.309_310delinsAA) c.*78_*79delinsAA (n.*78_*79delinsAA) n.2567_2568delinsAA n.489_490delinsAA n.363_364delinsAA c.239_240delinsAA (p.Met80Lys) | |
14 | g.90404704_90404705delinsAT | CA2579770918 | CALM1 | c.437_438delinsAT (p.Met146Asn) c.329_330delinsAT (p.Met110Asn) c.440_441delinsAT (p.Met147Asn) c.309_310delinsAT (n.309_310delinsAT) c.*78_*79delinsAT (n.*78_*79delinsAT) n.2567_2568delinsAT n.489_490delinsAT n.363_364delinsAT c.239_240delinsAT (p.Met80Asn) | |
14 | g.90404704_90404705delinsCA | CA2579771049 | CALM1 | c.437_438delinsCA (p.Met146Thr) c.329_330delinsCA (p.Met110Thr) c.440_441delinsCA (p.Met147Thr) c.309_310delinsCA (n.309_310delinsCA) c.*78_*79delinsCA (n.*78_*79delinsCA) n.2567_2568delinsCA n.489_490delinsCA n.363_364delinsCA c.239_240delinsCA (p.Met80Thr) | |
14 | g.90404704_90404705delinsCC | CA2579770472 | CALM1 | c.437_438delinsCC (p.Met146Thr) c.329_330delinsCC (p.Met110Thr) c.440_441delinsCC (p.Met147Thr) c.309_310delinsCC (n.309_310delinsCC) c.*78_*79delinsCC (n.*78_*79delinsCC) n.2567_2568delinsCC n.489_490delinsCC n.363_364delinsCC c.239_240delinsCC (p.Met80Thr) | |
14 | g.90404704_90404705delinsCT | CA2579771171 | CALM1 | c.437_438delinsCT (p.Met146Thr) c.329_330delinsCT (p.Met110Thr) c.440_441delinsCT (p.Met147Thr) c.309_310delinsCT (n.309_310delinsCT) c.*78_*79delinsCT (n.*78_*79delinsCT) n.2567_2568delinsCT n.489_490delinsCT n.363_364delinsCT c.239_240delinsCT (p.Met80Thr) | |
14 | g.90404704_90404705delinsGT | CA2579774017 | CALM1 | c.437_438delinsGT (p.Met146Ser) c.329_330delinsGT (p.Met110Ser) c.440_441delinsGT (p.Met147Ser) c.309_310delinsGT (n.309_310delinsGT) c.*78_*79delinsGT (n.*78_*79delinsGT) n.2567_2568delinsGT n.489_490delinsGT n.363_364delinsGT c.239_240delinsGT (p.Met80Ser) | |
14 | g.90404705G>A | CA390690509 | CALM1 | c.438G>A (p.Met146Ile) c.330G>A (p.Met110Ile) c.441G>A (p.Met147Ile) c.310G>A (n.310G>A) c.*79G>A (n.*79G>A) n.2568G>A n.490G>A n.364G>A c.240G>A (p.Met80Ile) | |
14 | g.90404705G>C | CA390690510 | CALM1 | c.438G>C (p.Met146Ile) c.330G>C (p.Met110Ile) c.441G>C (p.Met147Ile) c.310G>C (n.310G>C) c.*79G>C (n.*79G>C) n.2568G>C n.490G>C n.364G>C c.240G>C (p.Met80Ile) | |
14 | g.90404705G>T | CA390690512 | CALM1 | c.438G>T (p.Met146Ile) c.330G>T (p.Met110Ile) c.441G>T (p.Met147Ile) c.310G>T (n.310G>T) c.*79G>T (n.*79G>T) n.2568G>T n.490G>T n.364G>T c.240G>T (p.Met80Ile) | |
14 | g.90404706A>C | CA390690514 | CALM1 | c.439A>C (p.Thr147Pro) c.331A>C (p.Thr111Pro) c.442A>C (p.Thr148Pro) c.311A>C (n.311A>C) c.*80A>C (n.*80A>C) n.2569A>C n.491A>C n.365A>C c.241A>C (p.Thr81Pro) | |
14 | g.90404706A>G | CA390690516 | CALM1 | c.439A>G (p.Thr147Ala) c.331A>G (p.Thr111Ala) c.442A>G (p.Thr148Ala) c.311A>G (n.311A>G) c.*80A>G (n.*80A>G) n.2569A>G n.491A>G n.365A>G c.241A>G (p.Thr81Ala) | |
14 | g.90404706A>T | CA390690518 | CALM1 | c.439A>T (p.Thr147Ser) c.331A>T (p.Thr111Ser) c.442A>T (p.Thr148Ser) c.311A>T (n.311A>T) c.*80A>T (n.*80A>T) n.2569A>T n.491A>T n.365A>T c.241A>T (p.Thr81Ser) | |
14 | g.90404706_90404707delinsGA | CA2579771272 | CALM1 | c.439_440delinsGA (p.Thr147Asp) c.331_332delinsGA (p.Thr111Asp) c.442_443delinsGA (p.Thr148Asp) c.311_312delinsGA (n.311_312delinsGA) c.*80_*81delinsGA (n.*80_*81delinsGA) n.2569_2570delinsGA n.491_492delinsGA n.365_366delinsGA c.241_242delinsGA (p.Thr81Asp) | |
14 | g.90404706_90404707delinsGT | CA2579771735 | CALM1 | c.439_440delinsGT (p.Thr147Val) c.331_332delinsGT (p.Thr111Val) c.442_443delinsGT (p.Thr148Val) c.311_312delinsGT (n.311_312delinsGT) c.*80_*81delinsGT (n.*80_*81delinsGT) n.2569_2570delinsGT n.491_492delinsGT n.365_366delinsGT c.241_242delinsGT (p.Thr81Val) | |
14 | g.90404706_90404707delinsTG | CA2579771309 | CALM1 | c.439_440delinsTG (p.Thr147Cys) c.331_332delinsTG (p.Thr111Cys) c.442_443delinsTG (p.Thr148Cys) c.311_312delinsTG (n.311_312delinsTG) c.*80_*81delinsTG (n.*80_*81delinsTG) n.2569_2570delinsTG n.491_492delinsTG n.365_366delinsTG c.241_242delinsTG (p.Thr81Cys) | |
14 | g.90404706_90404707delinsTT | CA2579773859 | CALM1 | c.439_440delinsTT (p.Thr147Phe) c.331_332delinsTT (p.Thr111Phe) c.442_443delinsTT (p.Thr148Phe) c.311_312delinsTT (n.311_312delinsTT) c.*80_*81delinsTT (n.*80_*81delinsTT) n.2569_2570delinsTT n.491_492delinsTT n.365_366delinsTT c.241_242delinsTT (p.Thr81Phe) | |
14 | g.90404706_90404708delinsCCC | CA2579772888 | CALM1 | c.439_441delinsCCC (p.Thr147Pro) c.331_333delinsCCC (p.Thr111Pro) c.442_444delinsCCC (p.Thr148Pro) c.311_313delinsCCC (n.311_313delinsCCC) c.*80_*82delinsCCC (n.*80_*82delinsCCC) n.2569_2571delinsCCC n.491_493delinsCCC n.365_367delinsCCC c.241_243delinsCCC (p.Thr81Pro) | |
14 | g.90404706_90404708delinsCCG | CA2579773235 | CALM1 | c.439_441delinsCCG (p.Thr147Pro) c.331_333delinsCCG (p.Thr111Pro) c.442_444delinsCCG (p.Thr148Pro) c.311_313delinsCCG (n.311_313delinsCCG) c.*80_*82delinsCCG (n.*80_*82delinsCCG) n.2569_2571delinsCCG n.491_493delinsCCG n.365_367delinsCCG c.241_243delinsCCG (p.Thr81Pro) | |
14 | g.90404706_90404708delinsGCA | CA2579772586 | CALM1 | c.439_441delinsGCA (p.Thr147Ala) c.331_333delinsGCA (p.Thr111Ala) c.442_444delinsGCA (p.Thr148Ala) c.311_313delinsGCA (n.311_313delinsGCA) c.*80_*82delinsGCA (n.*80_*82delinsGCA) n.2569_2571delinsGCA n.491_493delinsGCA n.365_367delinsGCA c.241_243delinsGCA (p.Thr81Ala) | |
14 | g.90404706_90404708delinsGCC | CA2579774112 | CALM1 | c.439_441delinsGCC (p.Thr147Ala) c.331_333delinsGCC (p.Thr111Ala) c.442_444delinsGCC (p.Thr148Ala) c.311_313delinsGCC (n.311_313delinsGCC) c.*80_*82delinsGCC (n.*80_*82delinsGCC) n.2569_2571delinsGCC n.491_493delinsGCC n.365_367delinsGCC c.241_243delinsGCC (p.Thr81Ala) | |
14 | g.90404706_90404708delinsGCG | CA2579771440 | CALM1 | c.439_441delinsGCG (p.Thr147Ala) c.331_333delinsGCG (p.Thr111Ala) c.442_444delinsGCG (p.Thr148Ala) c.311_313delinsGCG (n.311_313delinsGCG) c.*80_*82delinsGCG (n.*80_*82delinsGCG) n.2569_2571delinsGCG n.491_493delinsGCG n.365_367delinsGCG c.241_243delinsGCG (p.Thr81Ala) | |
14 | g.90404706_90404708delinsGGG | CA2579769849 | CALM1 | c.439_441delinsGGG (p.Thr147Gly) c.331_333delinsGGG (p.Thr111Gly) c.442_444delinsGGG (p.Thr148Gly) c.311_313delinsGGG (n.311_313delinsGGG) c.*80_*82delinsGGG (n.*80_*82delinsGGG) n.2569_2571delinsGGG n.491_493delinsGGG n.365_367delinsGGG c.241_243delinsGGG (p.Thr81Gly) | |
14 | g.90404706_90404708delinsGTC | CA2579774096 | CALM1 | c.439_441delinsGTC (p.Thr147Val) c.331_333delinsGTC (p.Thr111Val) c.442_444delinsGTC (p.Thr148Val) c.311_313delinsGTC (n.311_313delinsGTC) c.*80_*82delinsGTC (n.*80_*82delinsGTC) n.2569_2571delinsGTC n.491_493delinsGTC n.365_367delinsGTC c.241_243delinsGTC (p.Thr81Val) | |
14 | g.90404706_90404708delinsTCC | CA2579773853 | CALM1 | c.439_441delinsTCC (p.Thr147Ser) c.331_333delinsTCC (p.Thr111Ser) c.442_444delinsTCC (p.Thr148Ser) c.311_313delinsTCC (n.311_313delinsTCC) c.*80_*82delinsTCC (n.*80_*82delinsTCC) n.2569_2571delinsTCC n.491_493delinsTCC n.365_367delinsTCC c.241_243delinsTCC (p.Thr81Ser) | |
14 | g.90404707C>A | CA390690520 | CALM1 | c.440C>A (p.Thr147Asn) c.332C>A (p.Thr111Asn) c.443C>A (p.Thr148Asn) c.312C>A (n.312C>A) c.*81C>A (n.*81C>A) n.2570C>A n.492C>A n.366C>A c.242C>A (p.Thr81Asn) | |
14 | g.90404707C>G | CA390690522 | CALM1 | c.440C>G (p.Thr147Ser) c.332C>G (p.Thr111Ser) c.443C>G (p.Thr148Ser) c.312C>G (n.312C>G) c.*81C>G (n.*81C>G) n.2570C>G n.492C>G n.366C>G c.242C>G (p.Thr81Ser) | |
14 | g.90404707C>T | CA390690524 | CALM1 | c.440C>T (p.Thr147Ile) c.332C>T (p.Thr111Ile) c.443C>T (p.Thr148Ile) c.312C>T (n.312C>T) c.*81C>T (n.*81C>T) n.2570C>T n.492C>T n.366C>T c.242C>T (p.Thr81Ile) | |
14 | g.90404707_90404708delinsAC | CA2579772429 | CALM1 | c.440_441delinsAC (p.Thr147Asn) c.332_333delinsAC (p.Thr111Asn) c.443_444delinsAC (p.Thr148Asn) c.312_313delinsAC (n.312_313delinsAC) c.*81_*82delinsAC (n.*81_*82delinsAC) n.2570_2571delinsAC n.492_493delinsAC n.366_367delinsAC c.242_243delinsAC (p.Thr81Asn) | |
14 | g.90404707_90404708delinsTA | CA2579773251 | CALM1 | c.440_441delinsTA (p.Thr147Ile) c.332_333delinsTA (p.Thr111Ile) c.443_444delinsTA (p.Thr148Ile) c.312_313delinsTA (n.312_313delinsTA) c.*81_*82delinsTA (n.*81_*82delinsTA) n.2570_2571delinsTA n.492_493delinsTA n.366_367delinsTA c.242_243delinsTA (p.Thr81Ile) | |
14 | g.90404707_90404708delinsTC | CA2579770142 | CALM1 | c.440_441delinsTC (p.Thr147Ile) c.332_333delinsTC (p.Thr111Ile) c.443_444delinsTC (p.Thr148Ile) c.312_313delinsTC (n.312_313delinsTC) c.*81_*82delinsTC (n.*81_*82delinsTC) n.2570_2571delinsTC n.492_493delinsTC n.366_367delinsTC c.242_243delinsTC (p.Thr81Ile) | |
14 | g.90404708T>A | CA487760962 | CALM1 | c.441T>A (p.Thr147=) c.333T>A (p.Thr111=) c.444T>A (p.Thr148=) c.313T>A (n.313T>A) c.*82T>A (n.*82T>A) n.2571T>A n.493T>A n.367T>A c.243T>A (p.Thr81=) | |
14 | g.90404708T>C | CA487760964 | CALM1 | c.441T>C (p.Thr147=) c.333T>C (p.Thr111=) c.444T>C (p.Thr148=) c.313T>C (n.313T>C) c.*82T>C (n.*82T>C) n.2571T>C n.493T>C n.367T>C c.243T>C (p.Thr81=) | |
14 | g.90404708T>G | CA487760966 | CALM1 | c.441T>G (p.Thr147=) c.333T>G (p.Thr111=) c.444T>G (p.Thr148=) c.313T>G (n.313T>G) c.*82T>G (n.*82T>G) n.2571T>G n.493T>G n.367T>G c.243T>G (p.Thr81=) | |
14 | g.90404709G>A | CA390690529 | CALM1 | c.442G>A (p.Ala148Thr) c.334G>A (p.Ala112Thr) c.445G>A (p.Ala149Thr) c.314G>A (n.314G>A) c.*83G>A (n.*83G>A) n.2572G>A n.494G>A n.368G>A c.244G>A (p.Ala82Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404709G>C | CA390690527 | CALM1 | c.442G>C (p.Ala148Pro) c.334G>C (p.Ala112Pro) c.445G>C (p.Ala149Pro) c.314G>C (n.314G>C) c.*83G>C (n.*83G>C) n.2572G>C n.494G>C n.368G>C c.244G>C (p.Ala82Pro) | |
14 | g.90404709G= | CA2154484483 | CALM1 | c.442G= (p.Ala148=) c.334G= (p.Ala112=) c.445G= (p.Ala149=) c.314G= (n.314G=) c.*83G= (n.*83G=) n.2572G= n.494G= n.368G= c.244G= (p.Ala82=) | |
14 | g.90404709G>T | CA390690525 | CALM1 | c.442G>T (p.Ala148Ser) c.334G>T (p.Ala112Ser) c.445G>T (p.Ala149Ser) c.314G>T (n.314G>T) c.*83G>T (n.*83G>T) n.2572G>T n.494G>T n.368G>T c.244G>T (p.Ala82Ser) | |
14 | g.90404709_90404710delinsAT | CA2579773067 | CALM1 | c.442_443delinsAT (p.Ala148Ile) c.334_335delinsAT (p.Ala112Ile) c.445_446delinsAT (p.Ala149Ile) c.314_315delinsAT (n.314_315delinsAT) c.*83_*84delinsAT (n.*83_*84delinsAT) n.2572_2573delinsAT n.494_495delinsAT n.368_369delinsAT c.244_245delinsAT (p.Ala82Ile) | |
14 | g.90404709_90404710delinsCA | CA2579772540 | CALM1 | c.442_443delinsCA (p.Ala148Gln) c.334_335delinsCA (p.Ala112Gln) c.445_446delinsCA (p.Ala149Gln) c.314_315delinsCA (n.314_315delinsCA) c.*83_*84delinsCA (n.*83_*84delinsCA) n.2572_2573delinsCA n.494_495delinsCA n.368_369delinsCA c.244_245delinsCA (p.Ala82Gln) | |
14 | g.90404709_90404710delinsTA | CA2579772779 | CALM1 | c.442_443delinsTA (p.Ala148Ter) c.334_335delinsTA (p.Ala112Ter) c.445_446delinsTA (p.Ala149Ter) c.314_315delinsTA (n.314_315delinsTA) c.*83_*84delinsTA (n.*83_*84delinsTA) n.2572_2573delinsTA n.494_495delinsTA n.368_369delinsTA c.244_245delinsTA (p.Ala82Ter) | |
14 | g.90404709_90404710delinsTT | CA2579772495 | CALM1 | c.442_443delinsTT (p.Ala148Leu) c.334_335delinsTT (p.Ala112Leu) c.445_446delinsTT (p.Ala149Leu) c.314_315delinsTT (n.314_315delinsTT) c.*83_*84delinsTT (n.*83_*84delinsTT) n.2572_2573delinsTT n.494_495delinsTT n.368_369delinsTT c.244_245delinsTT (p.Ala82Leu) | |
14 | g.90404709_90404711delinsACC | CA2579772554 | CALM1 | c.442_444delinsACC (p.Ala148Thr) c.334_336delinsACC (p.Ala112Thr) c.445_447delinsACC (p.Ala149Thr) c.314_316delinsACC (n.314_316delinsACC) c.*83_*85delinsACC (n.*83_*85delinsACC) n.2572_2574delinsACC n.494_496delinsACC n.368_370delinsACC c.244_246delinsACC (p.Ala82Thr) | |
14 | g.90404709_90404711delinsACG | CA2579773815 | CALM1 | c.442_444delinsACG (p.Ala148Thr) c.334_336delinsACG (p.Ala112Thr) c.445_447delinsACG (p.Ala149Thr) c.314_316delinsACG (n.314_316delinsACG) c.*83_*85delinsACG (n.*83_*85delinsACG) n.2572_2574delinsACG n.494_496delinsACG n.368_370delinsACG c.244_246delinsACG (p.Ala82Thr) | |
14 | g.90404709_90404711delinsACT | CA2579770732 | CALM1 | c.442_444delinsACT (p.Ala148Thr) c.334_336delinsACT (p.Ala112Thr) c.445_447delinsACT (p.Ala149Thr) c.314_316delinsACT (n.314_316delinsACT) c.*83_*85delinsACT (n.*83_*85delinsACT) n.2572_2574delinsACT n.494_496delinsACT n.368_370delinsACT c.244_246delinsACT (p.Ala82Thr) | |
14 | g.90404709_90404711delinsATT | CA2579770765 | CALM1 | c.442_444delinsATT (p.Ala148Ile) c.334_336delinsATT (p.Ala112Ile) c.445_447delinsATT (p.Ala149Ile) c.314_316delinsATT (n.314_316delinsATT) c.*83_*85delinsATT (n.*83_*85delinsATT) n.2572_2574delinsATT n.494_496delinsATT n.368_370delinsATT c.244_246delinsATT (p.Ala82Ile) | |
14 | g.90404709_90404711delinsTAG | CA2579771510 | CALM1 | c.442_444delinsTAG (p.Ala148Ter) c.334_336delinsTAG (p.Ala112Ter) c.445_447delinsTAG (p.Ala149Ter) c.314_316delinsTAG (n.314_316delinsTAG) c.*83_*85delinsTAG (n.*83_*85delinsTAG) n.2572_2574delinsTAG n.494_496delinsTAG n.368_370delinsTAG c.244_246delinsTAG (p.Ala82Ter) | |
14 | g.90404709_90404711delinsTCG | CA2579772814 | CALM1 | c.442_444delinsTCG (p.Ala148Ser) c.334_336delinsTCG (p.Ala112Ser) c.445_447delinsTCG (p.Ala149Ser) c.314_316delinsTCG (n.314_316delinsTCG) c.*83_*85delinsTCG (n.*83_*85delinsTCG) n.2572_2574delinsTCG n.494_496delinsTCG n.368_370delinsTCG c.244_246delinsTCG (p.Ala82Ser) | |
14 | g.90404709_90404711delinsTCT | CA2579773389 | CALM1 | c.442_444delinsTCT (p.Ala148Ser) c.334_336delinsTCT (p.Ala112Ser) c.445_447delinsTCT (p.Ala149Ser) c.314_316delinsTCT (n.314_316delinsTCT) c.*83_*85delinsTCT (n.*83_*85delinsTCT) n.2572_2574delinsTCT n.494_496delinsTCT n.368_370delinsTCT c.244_246delinsTCT (p.Ala82Ser) | |
14 | g.90404709_90404711delinsTGG | CA2579770368 | CALM1 | c.442_444delinsTGG (p.Ala148Trp) c.334_336delinsTGG (p.Ala112Trp) c.445_447delinsTGG (p.Ala149Trp) c.314_316delinsTGG (n.314_316delinsTGG) c.*83_*85delinsTGG (n.*83_*85delinsTGG) n.2572_2574delinsTGG n.494_496delinsTGG n.368_370delinsTGG c.244_246delinsTGG (p.Ala82Trp) | |
14 | g.90404709_90404711delinsTTG | CA2579770023 | CALM1 | c.442_444delinsTTG (p.Ala148Leu) c.334_336delinsTTG (p.Ala112Leu) c.445_447delinsTTG (p.Ala149Leu) c.314_316delinsTTG (n.314_316delinsTTG) c.*83_*85delinsTTG (n.*83_*85delinsTTG) n.2572_2574delinsTTG n.494_496delinsTTG n.368_370delinsTTG c.244_246delinsTTG (p.Ala82Leu) | |
14 | g.90404709_90404711delinsTTT | CA2579771881 | CALM1 | c.442_444delinsTTT (p.Ala148Phe) c.334_336delinsTTT (p.Ala112Phe) c.445_447delinsTTT (p.Ala149Phe) c.314_316delinsTTT (n.314_316delinsTTT) c.*83_*85delinsTTT (n.*83_*85delinsTTT) n.2572_2574delinsTTT n.494_496delinsTTT n.368_370delinsTTT c.244_246delinsTTT (p.Ala82Phe) | |
14 | g.90404710C>A | CA390690531 | CALM1 | c.443C>A (p.Ala148Glu) c.335C>A (p.Ala112Glu) c.446C>A (p.Ala149Glu) c.315C>A (n.315C>A) c.*84C>A (n.*84C>A) n.2573C>A n.495C>A n.369C>A c.245C>A (p.Ala82Glu) | |
14 | g.90404710C>G | CA390690535 | CALM1 | c.443C>G (p.Ala148Gly) c.335C>G (p.Ala112Gly) c.446C>G (p.Ala149Gly) c.315C>G (n.315C>G) c.*84C>G (n.*84C>G) n.2573C>G n.495C>G n.369C>G c.245C>G (p.Ala82Gly) | gnomAD v4 |
14 | g.90404710C>T | CA390690533 | CALM1 | c.443C>T (p.Ala148Val) c.335C>T (p.Ala112Val) c.446C>T (p.Ala149Val) c.315C>T (n.315C>T) c.*84C>T (n.*84C>T) n.2573C>T n.495C>T n.369C>T c.245C>T (p.Ala82Val) | |
14 | g.90404710_90404711delinsAG | CA2579773153 | CALM1 | c.443_444delinsAG (p.Ala148Glu) c.335_336delinsAG (p.Ala112Glu) c.446_447delinsAG (p.Ala149Glu) c.315_316delinsAG (n.315_316delinsAG) c.*84_*85delinsAG (n.*84_*85delinsAG) n.2573_2574delinsAG n.495_496delinsAG n.369_370delinsAG c.245_246delinsAG (p.Ala82Glu) | |
14 | g.90404710_90404711delinsAT | CA2579770117 | CALM1 | c.443_444delinsAT (p.Ala148Asp) c.335_336delinsAT (p.Ala112Asp) c.446_447delinsAT (p.Ala149Asp) c.315_316delinsAT (n.315_316delinsAT) c.*84_*85delinsAT (n.*84_*85delinsAT) n.2573_2574delinsAT n.495_496delinsAT n.369_370delinsAT c.245_246delinsAT (p.Ala82Asp) | |
14 | g.90404710_90404711delinsGG | CA2579772931 | CALM1 | c.443_444delinsGG (p.Ala148Gly) c.335_336delinsGG (p.Ala112Gly) c.446_447delinsGG (p.Ala149Gly) c.315_316delinsGG (n.315_316delinsGG) c.*84_*85delinsGG (n.*84_*85delinsGG) n.2573_2574delinsGG n.495_496delinsGG n.369_370delinsGG c.245_246delinsGG (p.Ala82Gly) | |
14 | g.90404710_90404711delinsGT | CA2579770557 | CALM1 | c.443_444delinsGT (p.Ala148Gly) c.335_336delinsGT (p.Ala112Gly) c.446_447delinsGT (p.Ala149Gly) c.315_316delinsGT (n.315_316delinsGT) c.*84_*85delinsGT (n.*84_*85delinsGT) n.2573_2574delinsGT n.495_496delinsGT n.369_370delinsGT c.245_246delinsGT (p.Ala82Gly) | |
14 | g.90404710_90404711delinsTG | CA2579771143 | CALM1 | c.443_444delinsTG (p.Ala148Val) c.335_336delinsTG (p.Ala112Val) c.446_447delinsTG (p.Ala149Val) c.315_316delinsTG (n.315_316delinsTG) c.*84_*85delinsTG (n.*84_*85delinsTG) n.2573_2574delinsTG n.495_496delinsTG n.369_370delinsTG c.245_246delinsTG (p.Ala82Val) | |
14 | g.90404710_90404711delinsTT | CA2579770548 | CALM1 | c.443_444delinsTT (p.Ala148Val) c.335_336delinsTT (p.Ala112Val) c.446_447delinsTT (p.Ala149Val) c.315_316delinsTT (n.315_316delinsTT) c.*84_*85delinsTT (n.*84_*85delinsTT) n.2573_2574delinsTT n.495_496delinsTT n.369_370delinsTT c.245_246delinsTT (p.Ala82Val) | |
14 | g.90404711A>C | CA487760975 | CALM1 | c.444A>C (p.Ala148=) c.336A>C (p.Ala112=) c.447A>C (p.Ala149=) c.316A>C (n.316A>C) c.*85A>C (n.*85A>C) n.2574A>C n.496A>C n.370A>C c.246A>C (p.Ala82=) | |
14 | g.90404711A>G | CA487760978 | CALM1 | c.444A>G (p.Ala148=) c.336A>G (p.Ala112=) c.447A>G (p.Ala149=) c.316A>G (n.316A>G) c.*85A>G (n.*85A>G) n.2574A>G n.496A>G n.370A>G c.246A>G (p.Ala82=) | |
14 | g.90404711A>T | CA487760977 | CALM1 | c.444A>T (p.Ala148=) c.336A>T (p.Ala112=) c.447A>T (p.Ala149=) c.316A>T (n.316A>T) c.*85A>T (n.*85A>T) n.2574A>T n.496A>T n.370A>T c.246A>T (p.Ala82=) | |
14 | g.90404712A>C | CA390690538 | CALM1 | c.445A>C (p.Lys149Gln) c.337A>C (p.Lys113Gln) c.448A>C (p.Lys150Gln) c.317A>C (n.317A>C) c.*86A>C (n.*86A>C) n.2575A>C n.497A>C n.371A>C c.247A>C (p.Lys83Gln) | |
14 | g.90404712A>G | CA390690542 | CALM1 | c.445A>G (p.Lys149Glu) c.337A>G (p.Lys113Glu) c.448A>G (p.Lys150Glu) c.317A>G (n.317A>G) c.*86A>G (n.*86A>G) n.2575A>G n.497A>G n.371A>G c.247A>G (p.Lys83Glu) | |
14 | g.90404712A>T | CA390690540 | CALM1 | c.445A>T (p.Lys149Ter) c.337A>T (p.Lys113Ter) c.448A>T (p.Lys150Ter) c.317A>T (n.317A>T) c.*86A>T (n.*86A>T) n.2575A>T n.497A>T n.371A>T c.247A>T (p.Lys83Ter) | |
14 | g.90404712_90404713delinsCC | CA2579769803 | CALM1 | c.445_446delinsCC (p.Lys149Pro) c.337_338delinsCC (p.Lys113Pro) c.448_449delinsCC (p.Lys150Pro) c.317_318delinsCC (n.317_318delinsCC) c.*86_*87delinsCC (n.*86_*87delinsCC) n.2575_2576delinsCC n.497_498delinsCC n.371_372delinsCC c.247_248delinsCC (p.Lys83Pro) | |
14 | g.90404712_90404713delinsGC | CA2579773632 | CALM1 | c.445_446delinsGC (p.Lys149Ala) c.337_338delinsGC (p.Lys113Ala) c.448_449delinsGC (p.Lys150Ala) c.317_318delinsGC (n.317_318delinsGC) c.*86_*87delinsGC (n.*86_*87delinsGC) n.2575_2576delinsGC n.497_498delinsGC n.371_372delinsGC c.247_248delinsGC (p.Lys83Ala) | |
14 | g.90404712_90404713delinsGG | CA2579774152 | CALM1 | c.445_446delinsGG (p.Lys149Gly) c.337_338delinsGG (p.Lys113Gly) c.448_449delinsGG (p.Lys150Gly) c.317_318delinsGG (n.317_318delinsGG) c.*86_*87delinsGG (n.*86_*87delinsGG) n.2575_2576delinsGG n.497_498delinsGG n.371_372delinsGG c.247_248delinsGG (p.Lys83Gly) | |
14 | g.90404712_90404713delinsGT | CA2579770100 | CALM1 | c.445_446delinsGT (p.Lys149Val) c.337_338delinsGT (p.Lys113Val) c.448_449delinsGT (p.Lys150Val) c.317_318delinsGT (n.317_318delinsGT) c.*86_*87delinsGT (n.*86_*87delinsGT) n.2575_2576delinsGT n.497_498delinsGT n.371_372delinsGT c.247_248delinsGT (p.Lys83Val) | |
14 | g.90404712_90404713delinsTG | CA2579771240 | CALM1 | c.445_446delinsTG (p.Lys149Ter) c.337_338delinsTG (p.Lys113Ter) c.448_449delinsTG (p.Lys150Ter) c.317_318delinsTG (n.317_318delinsTG) c.*86_*87delinsTG (n.*86_*87delinsTG) n.2575_2576delinsTG n.497_498delinsTG n.371_372delinsTG c.247_248delinsTG (p.Lys83Ter) | |
14 | g.90404712_90404714delinsCAG | CA2579774078 | CALM1 | c.445_447delinsCAG (p.Lys149Gln) c.337_339delinsCAG (p.Lys113Gln) c.448_450delinsCAG (p.Lys150Gln) c.317_319delinsCAG (n.317_319delinsCAG) c.*86_*88delinsCAG (n.*86_*88delinsCAG) n.2575_2577delinsCAG n.497_499delinsCAG n.371_373delinsCAG c.247_249delinsCAG (p.Lys83Gln) | |
14 | g.90404712_90404714delinsCCT | CA2579770856 | CALM1 | c.445_447delinsCCT (p.Lys149Pro) c.337_339delinsCCT (p.Lys113Pro) c.448_450delinsCCT (p.Lys150Pro) c.317_319delinsCCT (n.317_319delinsCCT) c.*86_*88delinsCCT (n.*86_*88delinsCCT) n.2575_2577delinsCCT n.497_499delinsCCT n.371_373delinsCCT c.247_249delinsCCT (p.Lys83Pro) | |
14 | g.90404712_90404714delinsGAC | CA2579772594 | CALM1 | c.445_447delinsGAC (p.Lys149Asp) c.337_339delinsGAC (p.Lys113Asp) c.448_450delinsGAC (p.Lys150Asp) c.317_319delinsGAC (n.317_319delinsGAC) c.*86_*88delinsGAC (n.*86_*88delinsGAC) n.2575_2577delinsGAC n.497_499delinsGAC n.371_373delinsGAC c.247_249delinsGAC (p.Lys83Asp) | |
14 | g.90404712_90404714delinsGAG | CA2579770318 | CALM1 | c.445_447delinsGAG (p.Lys149Glu) c.337_339delinsGAG (p.Lys113Glu) c.448_450delinsGAG (p.Lys150Glu) c.317_319delinsGAG (n.317_319delinsGAG) c.*86_*88delinsGAG (n.*86_*88delinsGAG) n.2575_2577delinsGAG n.497_499delinsGAG n.371_373delinsGAG c.247_249delinsGAG (p.Lys83Glu) | |
14 | g.90404712_90404714delinsGAT | CA2579771058 | CALM1 | c.445_447delinsGAT (p.Lys149Asp) c.337_339delinsGAT (p.Lys113Asp) c.448_450delinsGAT (p.Lys150Asp) c.317_319delinsGAT (n.317_319delinsGAT) c.*86_*88delinsGAT (n.*86_*88delinsGAT) n.2575_2577delinsGAT n.497_499delinsGAT n.371_373delinsGAT c.247_249delinsGAT (p.Lys83Asp) | |
14 | g.90404712_90404714delinsGTG | CA2579772974 | CALM1 | c.445_447delinsGTG (p.Lys149Val) c.337_339delinsGTG (p.Lys113Val) c.448_450delinsGTG (p.Lys150Val) c.317_319delinsGTG (n.317_319delinsGTG) c.*86_*88delinsGTG (n.*86_*88delinsGTG) n.2575_2577delinsGTG n.497_499delinsGTG n.371_373delinsGTG c.247_249delinsGTG (p.Lys83Val) | |
14 | g.90404712_90404714delinsGTT | CA2579770177 | CALM1 | c.445_447delinsGTT (p.Lys149Val) c.337_339delinsGTT (p.Lys113Val) c.448_450delinsGTT (p.Lys150Val) c.317_319delinsGTT (n.317_319delinsGTT) c.*86_*88delinsGTT (n.*86_*88delinsGTT) n.2575_2577delinsGTT n.497_499delinsGTT n.371_373delinsGTT c.247_249delinsGTT (p.Lys83Val) | |
14 | g.90404712_90404714delinsTAC | CA2579771552 | CALM1 | c.445_447delinsTAC (p.Lys149Tyr) c.337_339delinsTAC (p.Lys113Tyr) c.448_450delinsTAC (p.Lys150Tyr) c.317_319delinsTAC (n.317_319delinsTAC) c.*86_*88delinsTAC (n.*86_*88delinsTAC) n.2575_2577delinsTAC n.497_499delinsTAC n.371_373delinsTAC c.247_249delinsTAC (p.Lys83Tyr) | |
14 | g.90404712_90404714delinsTAG | CA2579770479 | CALM1 | c.445_447delinsTAG (p.Lys149Ter) c.337_339delinsTAG (p.Lys113Ter) c.448_450delinsTAG (p.Lys150Ter) c.317_319delinsTAG (n.317_319delinsTAG) c.*86_*88delinsTAG (n.*86_*88delinsTAG) n.2575_2577delinsTAG n.497_499delinsTAG n.371_373delinsTAG c.247_249delinsTAG (p.Lys83Ter) | |
14 | g.90404712_90404714delinsTAT | CA2579773745 | CALM1 | c.445_447delinsTAT (p.Lys149Tyr) c.337_339delinsTAT (p.Lys113Tyr) c.448_450delinsTAT (p.Lys150Tyr) c.317_319delinsTAT (n.317_319delinsTAT) c.*86_*88delinsTAT (n.*86_*88delinsTAT) n.2575_2577delinsTAT n.497_499delinsTAT n.371_373delinsTAT c.247_249delinsTAT (p.Lys83Tyr) | |
14 | g.90404712_90404714delinsTCG | CA2579772189 | CALM1 | c.445_447delinsTCG (p.Lys149Ser) c.337_339delinsTCG (p.Lys113Ser) c.448_450delinsTCG (p.Lys150Ser) c.317_319delinsTCG (n.317_319delinsTCG) c.*86_*88delinsTCG (n.*86_*88delinsTCG) n.2575_2577delinsTCG n.497_499delinsTCG n.371_373delinsTCG c.247_249delinsTCG (p.Lys83Ser) | |
14 | g.90404713A>C | CA390690545 | CALM1 | c.446A>C (p.Lys149Thr) c.338A>C (p.Lys113Thr) c.449A>C (p.Lys150Thr) c.318A>C (n.318A>C) c.*87A>C (n.*87A>C) n.2576A>C n.498A>C n.372A>C c.248A>C (p.Lys83Thr) | |
14 | g.90404713A>G | CA390690546 | CALM1 | c.446A>G (p.Lys149Arg) c.338A>G (p.Lys113Arg) c.449A>G (p.Lys150Arg) c.318A>G (n.318A>G) c.*87A>G (n.*87A>G) n.2576A>G n.498A>G n.372A>G c.248A>G (p.Lys83Arg) | |
14 | g.90404713A>T | CA390690548 | CALM1 | c.446A>T (p.Lys149Ile) c.338A>T (p.Lys113Ile) c.449A>T (p.Lys150Ile) c.318A>T (n.318A>T) c.*87A>T (n.*87A>T) n.2576A>T n.498A>T n.372A>T c.248A>T (p.Lys83Ile) | |
14 | g.90404713_90404714delinsCG | CA2579773066 | CALM1 | c.446_447delinsCG (p.Lys149Thr) c.338_339delinsCG (p.Lys113Thr) c.449_450delinsCG (p.Lys150Thr) c.318_319delinsCG (n.318_319delinsCG) c.*87_*88delinsCG (n.*87_*88delinsCG) n.2576_2577delinsCG n.498_499delinsCG n.372_373delinsCG c.248_249delinsCG (p.Lys83Thr) | |
14 | g.90404713_90404714delinsGG | CA2579770884 | CALM1 | c.446_447delinsGG (p.Lys149Arg) c.338_339delinsGG (p.Lys113Arg) c.449_450delinsGG (p.Lys150Arg) c.318_319delinsGG (n.318_319delinsGG) c.*87_*88delinsGG (n.*87_*88delinsGG) n.2576_2577delinsGG n.498_499delinsGG n.372_373delinsGG c.248_249delinsGG (p.Lys83Arg) | |
14 | g.90404713_90404714delinsTG | CA2579770862 | CALM1 | c.446_447delinsTG (p.Lys149Met) c.338_339delinsTG (p.Lys113Met) c.449_450delinsTG (p.Lys150Met) c.318_319delinsTG (n.318_319delinsTG) c.*87_*88delinsTG (n.*87_*88delinsTG) n.2576_2577delinsTG n.498_499delinsTG n.372_373delinsTG c.248_249delinsTG (p.Lys83Met) | |
14 | g.90404713_90404714delinsTT | CA2579772271 | CALM1 | c.446_447delinsTT (p.Lys149Ile) c.338_339delinsTT (p.Lys113Ile) c.449_450delinsTT (p.Lys150Ile) c.318_319delinsTT (n.318_319delinsTT) c.*87_*88delinsTT (n.*87_*88delinsTT) n.2576_2577delinsTT n.498_499delinsTT n.372_373delinsTT c.248_249delinsTT (p.Lys83Ile) | |
14 | g.90404714A>C | CA390690550 | CALM1 | c.447A>C (p.Lys149Asn) c.339A>C (p.Lys113Asn) c.450A>C (p.Lys150Asn) c.319A>C (n.319A>C) c.*88A>C (n.*88A>C) n.2577A>C n.499A>C n.373A>C c.249A>C (p.Lys83Asn) | |
14 | g.90404714A>G | CA487760987 | CALM1 | c.447A>G (p.Lys149=) c.339A>G (p.Lys113=) c.450A>G (p.Lys150=) c.319A>G (n.319A>G) c.*88A>G (n.*88A>G) n.2577A>G n.499A>G n.373A>G c.249A>G (p.Lys83=) | |
14 | g.90404714A>T | CA390690551 | CALM1 | c.447A>T (p.Lys149Asn) c.339A>T (p.Lys113Asn) c.450A>T (p.Lys150Asn) c.319A>T (n.319A>T) c.*88A>T (n.*88A>T) n.2577A>T n.499A>T n.373A>T c.249A>T (p.Lys83Asn) | |
14 | g.90404715T>A | CA390690553 | CALM1 | c.448T>A (p.Ter150Arg) c.340T>A (p.Ter114Arg) c.451T>A (p.Ter151Arg) c.320T>A (n.320T>A) c.*89T>A (n.*89T>A) n.2578T>A n.500T>A n.374T>A c.250T>A (p.Ter84Arg) | |
14 | g.90404715T>C | CA390690555 | CALM1 | c.448T>C (p.Ter150Arg) c.340T>C (p.Ter114Arg) c.451T>C (p.Ter151Arg) c.320T>C (n.320T>C) c.*89T>C (n.*89T>C) n.2578T>C n.500T>C n.374T>C c.250T>C (p.Ter84Arg) | |
14 | g.90404715T>G | CA390690557 | CALM1 | c.448T>G (p.Ter150Gly) c.340T>G (p.Ter114Gly) c.451T>G (p.Ter151Gly) c.320T>G (n.320T>G) c.*89T>G (n.*89T>G) n.2578T>G n.500T>G n.374T>G c.250T>G (p.Ter84Gly) | |
14 | g.90404716G>A | CA487760994 | CALM1 | c.449G>A (p.Ter150=) c.341G>A (p.Ter114=) c.452G>A (p.Ter151=) c.321G>A (n.321G>A) c.*90G>A (n.*90G>A) n.2579G>A n.501G>A n.375G>A c.251G>A (p.Ter84=) | dbSNP gnomAD v4 |
14 | g.90404716G>C | CA390690559 | CALM1 | c.449G>C (p.Ter150Ser) c.341G>C (p.Ter114Ser) c.452G>C (p.Ter151Ser) c.321G>C (n.321G>C) c.*90G>C (n.*90G>C) n.2579G>C n.501G>C n.375G>C c.251G>C (p.Ter84Ser) | |
14 | g.90404716G= | CA2154484487 | CALM1 | c.449G= (p.Ter150=) c.341G= (p.Ter114=) c.452G= (p.Ter151=) c.321G= (n.321G=) c.*90G= (n.*90G=) n.2579G= n.501G= n.375G= c.251G= (p.Ter84=) | |
14 | g.90404716G>T | CA390690561 | CALM1 | c.449G>T (p.Ter150Leu) c.341G>T (p.Ter114Leu) c.452G>T (p.Ter151Leu) c.321G>T (n.321G>T) c.*90G>T (n.*90G>T) n.2579G>T n.501G>T n.375G>T c.251G>T (p.Ter84Leu) | |
14 | g.90404718_90404720del | CA2626079694 | CALM1 | c.*1_*3del (n.*1_*3del) c.323_325del (n.323_325del) c.*92_*94del (n.*92_*94del) n.2581_2583del n.503_505del n.377_379del | gnomAD v4 |
14 | g.90404717A>C | CA390690562 | CALM1 | c.450A>C (p.Ter150Cys) c.342A>C (p.Ter114Cys) c.453A>C (p.Ter151Cys) c.322A>C (n.322A>C) c.*91A>C (n.*91A>C) n.2580A>C n.502A>C n.376A>C c.252A>C (p.Ter84Cys) | |
14 | g.90404717A>G | CA390690563 | CALM1 | c.450A>G (p.Ter150Trp) c.342A>G (p.Ter114Trp) c.453A>G (p.Ter151Trp) c.322A>G (n.322A>G) c.*91A>G (n.*91A>G) n.2580A>G n.502A>G n.376A>G c.252A>G (p.Ter84Trp) | |
14 | g.90404717A>T | CA390690564 | CALM1 | c.450A>T (p.Ter150Cys) c.342A>T (p.Ter114Cys) c.453A>T (p.Ter151Cys) c.322A>T (n.322A>T) c.*91A>T (n.*91A>T) n.2580A>T n.502A>T n.376A>T c.252A>T (p.Ter84Cys) | |
14 | g.90404719_90404720dup | CA2569369263 | CALM1 | c.*2_*3dup (n.*2_*3dup) c.324_325dup (n.324_325dup) c.*93_*94dup (n.*93_*94dup) n.2582_2583dup n.504_505dup n.378_379dup | |
14 | g.90404721C>A | CA2626079695 | CALM1 | c.*4C>A (n.*4C>A) c.326C>A (n.326C>A) c.*95C>A (n.*95C>A) n.2584C>A n.506C>A n.380C>A | gnomAD v4 |
14 | g.90404721C= | CA2154484489 | CALM1 | c.*4C= (n.*4C=) c.326C= (n.326C=) c.*95C= (n.*95C=) n.2584C= n.506C= n.380C= | |
14 | g.90404721C>T | CA615948278 | CALM1 | c.*4C>T (n.*4C>T) c.326C>T (n.326C>T) c.*95C>T (n.*95C>T) n.2584C>T n.506C>T n.380C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404722C>A | CA2626079696 | CALM1 | c.*5C>A (n.*5C>A) c.327C>A (n.327C>A) c.*96C>A (n.*96C>A) n.2585C>A n.507C>A n.381C>A | gnomAD v4 |
14 | g.90404722C>G | CA2626079697 | CALM1 | c.*5C>G (n.*5C>G) c.327C>G (n.327C>G) c.*96C>G (n.*96C>G) n.2585C>G n.507C>G n.381C>G | gnomAD v4 |
14 | g.90404724A>C | CA2568550999 | CALM1 | c.*7A>C (n.*7A>C) c.329A>C (n.329A>C) c.*98A>C (n.*98A>C) n.2587A>C n.509A>C n.383A>C | |
14 | g.90404724A>G | CA2626079698 | CALM1 | c.*7A>G (n.*7A>G) c.329A>G (n.329A>G) c.*98A>G (n.*98A>G) n.2587A>G n.509A>G n.383A>G | gnomAD v4 |
14 | g.90404725C>A | CA2626079699 | CALM1 | c.*8C>A (n.*8C>A) c.330C>A (n.330C>A) c.*99C>A (n.*99C>A) n.2588C>A n.510C>A n.384C>A | gnomAD v4 |
14 | g.90404726T>C | CA615948279 | CALM1 | c.*9T>C (n.*9T>C) c.331T>C (n.331T>C) c.*100T>C (n.*100T>C) n.2589T>C n.511T>C n.385T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404726T= | CA2154484496 | CALM1 | c.*9T= (n.*9T=) c.331T= (n.331T=) c.*100T= (n.*100T=) n.2589T= n.511T= n.385T= | |
14 | g.90404728T>C | CA615948280 | CALM1 | c.*11T>C (n.*11T>C) c.333T>C (n.333T>C) c.*102T>C (n.*102T>C) n.2591T>C n.513T>C n.387T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404728T>G | CA7305831 | CALM1 | c.*11T>G (n.*11T>G) c.333T>G (n.333T>G) c.*102T>G (n.*102T>G) n.2591T>G n.513T>G n.387T>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
14 | g.90404728T= | CA2154484497 | CALM1 | c.*11T= (n.*11T=) c.333T= (n.333T=) c.*102T= (n.*102T=) n.2591T= n.513T= n.387T= | |
14 | g.90404729C>A | CA2575601017 | CALM1 | c.*12C>A (n.*12C>A) c.334C>A (n.334C>A) c.*103C>A (n.*103C>A) n.2592C>A n.514C>A n.388C>A | gnomAD v4 |
14 | g.90404729C= | CA2154484500 | CALM1 | c.*12C= (n.*12C=) c.334C= (n.334C=) c.*103C= (n.*103C=) n.2592C= n.514C= n.388C= | |
14 | g.90404729C>G | CA615948281 | CALM1 | c.*12C>G (n.*12C>G) c.334C>G (n.334C>G) c.*103C>G (n.*103C>G) n.2592C>G n.514C>G n.388C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404729C>T | CA2154484506 | CALM1 | c.*12C>T (n.*12C>T) c.334C>T (n.334C>T) c.*103C>T (n.*103C>T) n.2592C>T n.514C>T n.388C>T | dbSNP gnomAD v4 |
14 | g.90404729_90404730del | CA2555038484 | CALM1 | c.*12_*13del (n.*12_*13del) c.334_335del (n.334_335del) c.*103_*104del (n.*103_*104del) n.2592_2593del n.514_515del n.388_389del | |
14 | g.90404730A= | CA2154484509 | CALM1 | c.*13A= (n.*13A=) c.335A= (n.335A=) c.*104A= (n.*104A=) n.2593A= n.515A= n.389A= | |
14 | g.90404730A>G | CA965861371 | CALM1 | c.*13A>G (n.*13A>G) c.335A>G (n.335A>G) c.*104A>G (n.*104A>G) n.2593A>G n.515A>G n.389A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404732C>A | CA2626079700 | CALM1 | c.*15C>A (n.*15C>A) c.337C>A (n.337C>A) c.*106C>A (n.*106C>A) n.2595C>A n.517C>A n.391C>A | gnomAD v4 |
14 | g.90404733T>A | CA2514730580 | CALM1 | c.*16T>A (n.*16T>A) c.338T>A (n.338T>A) c.*107T>A (n.*107T>A) n.2596T>A n.518T>A n.392T>A | |
14 | g.90404733T>C | CA2539122762 | CALM1 | c.*16T>C (n.*16T>C) c.338T>C (n.338T>C) c.*107T>C (n.*107T>C) n.2596T>C n.518T>C n.392T>C | |
14 | g.90404734C>A | CA2626079701 | CALM1 | c.*17C>A (n.*17C>A) c.339C>A (n.339C>A) c.*108C>A (n.*108C>A) n.2597C>A n.519C>A n.393C>A | gnomAD v4 |
14 | g.90404734C>T | CA2626079702 | CALM1 | c.*17C>T (n.*17C>T) c.339C>T (n.339C>T) c.*108C>T (n.*108C>T) n.2597C>T n.519C>T n.393C>T | gnomAD v4 |
14 | g.90404735C>A | CA2626079703 | CALM1 | c.*18C>A (n.*18C>A) c.340C>A (n.340C>A) c.*109C>A (n.*109C>A) n.2598C>A n.520C>A n.394C>A | gnomAD v4 |
14 | g.90404735C= | CA2154484513 | CALM1 | c.*18C= (n.*18C=) c.340C= (n.340C=) c.*109C= (n.*109C=) n.2598C= n.520C= n.394C= | |
14 | g.90404735C>T | CA7305833 | CALM1 | c.*18C>T (n.*18C>T) c.340C>T (n.340C>T) c.*109C>T (n.*109C>T) n.2598C>T n.520C>T n.394C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404735_90404736delinsCT | CA2154484516 | CALM1 | c.*18_*19delinsCT (n.*18_*19delinsCT) c.340_341delinsCT (n.340_341delinsCT) c.*109_*110delinsCT (n.*109_*110delinsCT) n.2598_2599delinsCT n.520_521delinsCT n.394_395delinsCT | |
14 | g.90404736T>C | CA2626079704 | CALM1 | c.*19T>C (n.*19T>C) c.341T>C (n.341T>C) c.*110T>C (n.*110T>C) n.2599T>C n.521T>C n.395T>C | gnomAD v4 |
14 | g.90404736T>G | CA7305834 | CALM1 | c.*19T>G (n.*19T>G) c.341T>G (n.341T>G) c.*110T>G (n.*110T>G) n.2599T>G n.521T>G n.395T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404736T= | CA2154484523 | CALM1 | c.*19T= (n.*19T=) c.341T= (n.341T=) c.*110T= (n.*110T=) n.2599T= n.521T= n.395T= | |
14 | g.90404740del | CA7305832 | CALM1 | c.*23del (n.*23del) c.345del (n.345del) c.*114del (n.*114del) n.2603del n.525del n.399del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404739T>C | CA615948282 | CALM1 | c.*22T>C (n.*22T>C) c.344T>C (n.344T>C) c.*113T>C (n.*113T>C) n.2602T>C n.524T>C n.398T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404739T= | CA2154484529 | CALM1 | c.*22T= (n.*22T=) c.344T= (n.344T=) c.*113T= (n.*113T=) n.2602T= n.524T= n.398T= | |
14 | g.90404740T>C | CA615948283 | CALM1 | c.*23T>C (n.*23T>C) c.345T>C (n.345T>C) c.*114T>C (n.*114T>C) n.2603T>C n.525T>C n.399T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404740T= | CA2154484537 | CALM1 | c.*23T= (n.*23T=) c.345T= (n.345T=) c.*114T= (n.*114T=) n.2603T= n.525T= n.399T= | |
14 | g.90404740_90404741delinsTC | CA2154484534 | CALM1 | c.*23_*24delinsTC (n.*23_*24delinsTC) c.345_346delinsTC (n.345_346delinsTC) c.*114_*115delinsTC (n.*114_*115delinsTC) n.2603_2604delinsTC n.525_526delinsTC n.399_400delinsTC | |
14 | g.90404741C>A | CA2626079706 | CALM1 | c.*24C>A (n.*24C>A) c.346C>A (n.346C>A) c.*115C>A (n.*115C>A) n.2604C>A n.526C>A n.400C>A | gnomAD v4 |
14 | g.90404741C= | CA2154484543 | CALM1 | c.*24C= (n.*24C=) c.346C= (n.346C=) c.*115C= (n.*115C=) n.2604C= n.526C= n.400C= | |
14 | g.90404741C>G | CA2626079705 | CALM1 | c.*24C>G (n.*24C>G) c.346C>G (n.346C>G) c.*115C>G (n.*115C>G) n.2604C>G n.526C>G n.400C>G | gnomAD v4 |
14 | g.90404741C>T | CA7305837 | CALM1 | c.*24C>T (n.*24C>T) c.346C>T (n.346C>T) c.*115C>T (n.*115C>T) n.2604C>T n.526C>T n.400C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404746dup | CA7305836 | CALM1 | c.*29dup (n.*29dup) c.351dup (n.351dup) c.*120dup (n.*120dup) n.2609dup n.405dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404745_90404746dup | CA2626079707 | CALM1 | c.*28_*29dup (n.*28_*29dup) c.350_351dup (n.350_351dup) c.*119_*120dup (n.*119_*120dup) n.2608_2609dup n.404_405dup | gnomAD v4 |
14 | g.90404746del | CA7305835 | CALM1 | c.*29del (n.*29del) c.351del (n.351del) c.*120del (n.*120del) n.2609del n.531del n.405del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404744_90404746del | CA2541932725 | CALM1 | c.*27_*29del (n.*27_*29del) c.349_351del (n.349_351del) c.*118_*120del (n.*118_*120del) n.2607_2609del n.529_531del n.403_405del | |
14 | g.90404742C>A | CA7305838 | CALM1 | c.*25C>A (n.*25C>A) c.347C>A (n.347C>A) c.*116C>A (n.*116C>A) n.2605C>A n.527C>A n.401C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404742C= | CA2154484548 | CALM1 | c.*25C= (n.*25C=) c.347C= (n.347C=) c.*116C= (n.*116C=) n.2605C= n.527C= n.401C= | |
14 | g.90404742C>T | CA615948291 | CALM1 | c.*25C>T (n.*25C>T) c.347C>T (n.347C>T) c.*116C>T (n.*116C>T) n.2605C>T n.527C>T n.401C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404743C>A | CA2626079708 | CALM1 | c.*26C>A (n.*26C>A) c.348C>A (n.348C>A) c.*117C>A (n.*117C>A) n.2606C>A n.528C>A n.402C>A | gnomAD v4 |
14 | g.90404743C= | CA2154484550 | CALM1 | c.*26C= (n.*26C=) c.348C= (n.348C=) c.*117C= (n.*117C=) n.2606C= n.528C= n.402C= | |
14 | g.90404743C>G | CA2154484549 | CALM1 | c.*26C>G (n.*26C>G) c.348C>G (n.348C>G) c.*117C>G (n.*117C>G) n.2606C>G n.528C>G n.402C>G | dbSNP gnomAD v4 |
14 | g.90404743C>T | CA2626079709 | CALM1 | c.*26C>T (n.*26C>T) c.348C>T (n.348C>T) c.*117C>T (n.*117C>T) n.2606C>T n.528C>T n.402C>T | gnomAD v4 |
14 | g.90404744C>A | CA2626079710 | CALM1 | c.*27C>A (n.*27C>A) c.349C>A (n.349C>A) c.*118C>A (n.*118C>A) n.2607C>A n.529C>A n.403C>A | gnomAD v4 |
14 | g.90404744C>G | CA2626079711 | CALM1 | c.*27C>G (n.*27C>G) c.349C>G (n.349C>G) c.*118C>G (n.*118C>G) n.2607C>G n.529C>G n.403C>G | gnomAD v4 |
14 | g.90404744C>T | CA2515787833 | CALM1 | c.*27C>T (n.*27C>T) c.349C>T (n.349C>T) c.*118C>T (n.*118C>T) n.2607C>T n.529C>T n.403C>T | |
14 | g.90404745C>A | CA7305839 | CALM1 | c.*28C>A (n.*28C>A) c.350C>A (n.350C>A) c.*119C>A (n.*119C>A) n.2608C>A n.530C>A n.404C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404745C= | CA2154484552 | CALM1 | c.*28C= (n.*28C=) c.350C= (n.350C=) c.*119C= (n.*119C=) n.2608C= n.530C= n.404C= | |
14 | g.90404745C>G | CA2626079712 | CALM1 | c.*28C>G (n.*28C>G) c.350C>G (n.350C>G) c.*119C>G (n.*119C>G) n.2608C>G n.530C>G n.404C>G | gnomAD v4 |
14 | g.90404745C>T | CA2626079713 | CALM1 | c.*28C>T (n.*28C>T) c.350C>T (n.350C>T) c.*119C>T (n.*119C>T) n.2608C>T n.530C>T n.404C>T | gnomAD v4 |
14 | g.90404746C>A | CA615948296 | CALM1 | c.*29C>A (n.*29C>A) c.351C>A (n.351C>A) c.*120C>A (n.*120C>A) n.2609C>A n.531C>A n.405C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404746C= | CA2154484556 | CALM1 | c.*29C= (n.*29C=) c.351C= (n.351C=) c.*120C= (n.*120C=) n.2609C= n.531C= n.405C= | |
14 | g.90404746C>G | CA615948295 | CALM1 | c.*29C>G (n.*29C>G) c.351C>G (n.351C>G) c.*120C>G (n.*120C>G) n.2609C>G n.531C>G n.405C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404747del | CA2575601018 | CALM1 | c.*30del (n.*30del) c.352del (n.352del) c.*121del (n.*121del) n.2610del n.406del | gnomAD v4 |
14 | g.90404747T>C | CA709827817 | CALM1 | c.*30T>C (n.*30T>C) c.352T>C (n.352T>C) c.*121T>C (n.*121T>C) n.2610T>C n.406T>C | dbSNP gnomAD v4 |
14 | g.90404747T= | CA2154484560 | CALM1 | c.*30T= (n.*30T=) c.352T= (n.352T=) c.*121T= (n.*121T=) n.2610T= n.406T= | |
14 | g.90404748C>A | CA2626079715 | CALM1 | c.*31C>A (n.*31C>A) c.353C>A (n.353C>A) c.*122C>A (n.*122C>A) n.2611C>A n.407C>A | gnomAD v4 |
14 | g.90404748C= | CA2154484564 | CALM1 | c.*31C= (n.*31C=) c.353C= (n.353C=) c.*122C= (n.*122C=) n.2611C= n.407C= | |
14 | g.90404748C>G | CA2154484563 | CALM1 | c.*31C>G (n.*31C>G) c.353C>G (n.353C>G) c.*122C>G (n.*122C>G) n.2611C>G n.407C>G | dbSNP gnomAD v4 |
14 | g.90404748C>T | CA2626079716 | CALM1 | c.*31C>T (n.*31C>T) c.353C>T (n.353C>T) c.*122C>T (n.*122C>T) n.2611C>T n.407C>T | gnomAD v4 |
14 | g.90404749T>A | CA2626079717 | CALM1 | c.*32T>A (n.*32T>A) c.354T>A (n.354T>A) c.*123T>A (n.*123T>A) n.2612T>A n.408T>A | gnomAD v4 |
14 | g.90404749T>C | CA7305840 | CALM1 | c.*32T>C (n.*32T>C) c.354T>C (n.354T>C) c.*123T>C (n.*123T>C) n.2612T>C n.408T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404749T= | CA2154484566 | CALM1 | c.*32T= (n.*32T=) c.354T= (n.354T=) c.*123T= (n.*123T=) n.2612T= n.408T= | |
14 | g.90404750A>G | CA2626079718 | CALM1 | c.*33A>G (n.*33A>G) c.355A>G (n.355A>G) c.*124A>G (n.*124A>G) n.2613A>G n.409A>G | gnomAD v4 |
14 | g.90404751G>A | CA2575601019 | CALM1 | c.*34G>A (n.*34G>A) c.356G>A (n.356G>A) c.*125G>A (n.*125G>A) n.2614G>A n.410G>A | gnomAD v4 |
14 | g.90404751G>C | CA965861380 | CALM1 | c.*34G>C (n.*34G>C) c.356G>C (n.356G>C) c.*125G>C (n.*125G>C) n.2614G>C n.410G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404751G= | CA2154484567 | CALM1 | c.*34G= (n.*34G=) c.356G= (n.356G=) c.*125G= (n.*125G=) n.2614G= n.410G= | |
14 | g.90404752A= | CA2154484568 | CALM1 | c.*35A= (n.*35A=) c.357A= (n.357A=) c.*126A= (n.*126A=) n.2615A= n.411A= | |
14 | g.90404752A>G | CA2154484569 | CALM1 | c.*35A>G (n.*35A>G) c.357A>G (n.357A>G) c.*126A>G (n.*126A>G) n.2615A>G n.411A>G | dbSNP |
14 | g.90404753del | CA2626079719 | CALM1 | c.*36del (n.*36del) c.358del (n.358del) c.*127del (n.*127del) n.2616del n.412del | gnomAD v4 |
14 | g.90404753A= | CA2154484573 | CALM1 | c.*36A= (n.*36A=) c.358A= (n.358A=) c.*127A= (n.*127A=) n.2616A= n.412A= | |
14 | g.90404753A>G | CA264948555 | CALM1 | c.*36A>G (n.*36A>G) c.358A>G (n.358A>G) c.*127A>G (n.*127A>G) n.2616A>G n.412A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404753A>T | CA2575601020 | CALM1 | c.*36A>T (n.*36A>T) c.358A>T (n.358A>T) c.*127A>T (n.*127A>T) n.2616A>T n.412A>T | |
14 | g.90404754G>A | CA7305841 | CALM1 | c.*37G>A (n.*37G>A) c.359G>A (n.359G>A) c.*128G>A (n.*128G>A) n.2617G>A n.413G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404754G= | CA2154484574 | CALM1 | c.*37G= (n.*37G=) c.359G= (n.359G=) c.*128G= (n.*128G=) n.2617G= n.413G= | |
14 | g.90404756A>G | CA2575601021 | CALM1 | c.*39A>G (n.*39A>G) c.361A>G (n.361A>G) c.*130A>G (n.*130A>G) n.2619A>G n.415A>G | |
14 | g.90404756A>T | CA2575601022 | CALM1 | c.*39A>T (n.*39A>T) c.361A>T (n.361A>T) c.*130A>T (n.*130A>T) n.2619A>T n.415A>T | gnomAD v4 |
14 | g.90404757T>C | CA2626079720 | CALM1 | c.*40T>C (n.*40T>C) c.362T>C (n.362T>C) c.*131T>C (n.*131T>C) n.2620T>C n.416T>C | gnomAD v4 |
14 | g.90404758C>A | CA2575601023 | CALM1 | c.*41C>A (n.*41C>A) c.363C>A (n.363C>A) c.*132C>A (n.*132C>A) n.2621C>A n.417C>A | gnomAD v4 |
14 | g.90404759A= | CA2154484578 | CALM1 | c.*42A= (n.*42A=) c.364A= (n.364A=) c.*133A= (n.*133A=) n.2622A= n.418A= | |
14 | g.90404759A>G | CA7305842 | CALM1 | c.*42A>G (n.*42A>G) c.364A>G (n.364A>G) c.*133A>G (n.*133A>G) n.2622A>G n.418A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404760A= | CA2154484584 | CALM1 | c.*43A= (n.*43A=) c.365A= (n.365A=) c.*134A= (n.*134A=) n.2623A= n.419A= | |
14 | g.90404760A>G | CA7305843 | CALM1 | c.*43A>G (n.*43A>G) c.365A>G (n.365A>G) c.*134A>G (n.*134A>G) n.2623A>G n.419A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404761A>G | CA2626079721 | CALM1 | c.*44A>G (n.*44A>G) c.366A>G (n.366A>G) c.*135A>G (n.*135A>G) n.2624A>G n.420A>G | gnomAD v4 |
14 | g.90404761A>T | CA2575601024 | CALM1 | c.*44A>T (n.*44A>T) c.366A>T (n.366A>T) c.*135A>T (n.*135A>T) n.2624A>T n.420A>T | gnomAD v4 |
14 | g.90404762T>A | CA2626079722 | CALM1 | c.*45T>A (n.*45T>A) c.367T>A (n.367T>A) c.*136T>A (n.*136T>A) n.2625T>A n.421T>A | gnomAD v4 |
14 | g.90404762T>C | CA2154484597 | CALM1 | c.*45T>C (n.*45T>C) c.367T>C (n.367T>C) c.*136T>C (n.*136T>C) n.2625T>C n.421T>C | dbSNP gnomAD v4 |
14 | g.90404762T>G | CA2154484598 | CALM1 | c.*45T>G (n.*45T>G) c.367T>G (n.367T>G) c.*136T>G (n.*136T>G) n.2625T>G n.421T>G | dbSNP gnomAD v4 |
14 | g.90404762T= | CA2154484619 | CALM1 | c.*45T= (n.*45T=) c.367T= (n.367T=) c.*136T= (n.*136T=) n.2625T= n.421T= | |
14 | g.90404763del | CA2626079723 | CALM1 | c.*46del (n.*46del) c.368del (n.368del) c.*137del (n.*137del) n.2626del n.422del | gnomAD v4 |
14 | g.90404764G>A | CA709827828 | CALM1 | c.*47G>A (n.*47G>A) c.369G>A (n.369G>A) c.*138G>A (n.*138G>A) n.2627G>A n.423G>A | dbSNP |
14 | g.90404764G= | CA2154484635 | CALM1 | c.*47G= (n.*47G=) c.369G= (n.369G=) c.*138G= (n.*138G=) n.2627G= n.423G= | |
14 | g.90404764G>T | CA2626079724 | CALM1 | c.*47G>T (n.*47G>T) c.369G>T (n.369G>T) c.*138G>T (n.*138G>T) n.2627G>T n.423G>T | gnomAD v4 |
14 | g.90404764_90404765insT | CA655884335 | CALM1 | c.*47_*48insT (n.*47_*48insT) c.369_370insT (n.369_370insT) c.*138_*139insT (n.*138_*139insT) n.2627_2628insT n.423_424insT | COSMIC |
14 | g.90404766A= | CA2154484639 | CALM1 | c.*49A= (n.*49A=) c.371A= (n.371A=) c.*140A= (n.*140A=) n.2629A= n.425A= | |
14 | g.90404766A>G | CA709827838 | CALM1 | c.*49A>G (n.*49A>G) c.371A>G (n.371A>G) c.*140A>G (n.*140A>G) n.2629A>G n.425A>G | dbSNP gnomAD v4 |
14 | g.90404766A>T | CA2575601025 | CALM1 | c.*49A>T (n.*49A>T) c.371A>T (n.371A>T) c.*140A>T (n.*140A>T) n.2629A>T n.425A>T | gnomAD v4 |
14 | g.90404768C>A | CA615948305 | CALM1 | c.*51C>A (n.*51C>A) c.373C>A (n.373C>A) c.*142C>A (n.*142C>A) n.2631C>A n.427C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404768C= | CA2154484643 | CALM1 | c.*51C= (n.*51C=) c.373C= (n.373C=) c.*142C= (n.*142C=) n.2631C= n.427C= | |
14 | g.90404768C>G | CA2575601026 | CALM1 | c.*51C>G (n.*51C>G) c.373C>G (n.373C>G) c.*142C>G (n.*142C>G) n.2631C>G n.427C>G | |
14 | g.90404768C>T | CA2626079725 | CALM1 | c.*51C>T (n.*51C>T) c.373C>T (n.373C>T) c.*142C>T (n.*142C>T) n.2631C>T n.427C>T | gnomAD v4 |
14 | g.90404769T>C | CA2154484646 | CALM1 | c.*52T>C (n.*52T>C) c.374T>C (n.374T>C) c.*143T>C (n.*143T>C) n.2632T>C n.428T>C | dbSNP gnomAD v4 |
14 | g.90404769T= | CA2154484645 | CALM1 | c.*52T= (n.*52T=) c.374T= (n.374T=) c.*143T= (n.*143T=) n.2632T= n.428T= | |
14 | g.90404770T>C | CA2626079726 | CALM1 | c.*53T>C (n.*53T>C) c.375T>C (n.375T>C) c.*144T>C (n.*144T>C) n.2633T>C n.429T>C | gnomAD v4 |
14 | g.90404771T>C | CA2575601027 | CALM1 | c.*54T>C (n.*54T>C) c.376T>C (n.376T>C) c.*145T>C (n.*145T>C) n.2634T>C n.430T>C | gnomAD v4 |
14 | g.90404771_90404773dup | CA2626079727 | CALM1 | c.*54_*56dup (n.*54_*56dup) c.376_378dup (n.376_378dup) c.*145_*147dup (n.*145_*147dup) n.2634_2636dup n.430_432dup | gnomAD v4 |
14 | g.90404774C>A | CA2626079728 | CALM1 | c.*57C>A (n.*57C>A) c.379C>A (n.379C>A) c.*148C>A (n.*148C>A) n.2637C>A n.433C>A | gnomAD v4 |
14 | g.90404774C= | CA2154484648 | CALM1 | c.*57C= (n.*57C=) c.379C= (n.379C=) c.*148C= (n.*148C=) n.2637C= n.433C= | |
14 | g.90404774C>T | CA615948307 | CALM1 | c.*57C>T (n.*57C>T) c.379C>T (n.379C>T) c.*148C>T (n.*148C>T) n.2637C>T n.433C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404776T>A | CA2575601028 | CALM1 | c.*59T>A (n.*59T>A) c.381T>A (n.381T>A) c.*150T>A (n.*150T>A) n.2639T>A n.435T>A | |
14 | g.90404776T>G | CA264948559 | CALM1 | c.*59T>G (n.*59T>G) c.381T>G (n.381T>G) c.*150T>G (n.*150T>G) n.2639T>G n.435T>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404776T= | CA2154484652 | CALM1 | c.*59T= (n.*59T=) c.381T= (n.381T=) c.*150T= (n.*150T=) n.2639T= n.435T= | |
14 | g.90404777A>C | CA2626079730 | CALM1 | c.*60A>C (n.*60A>C) c.382A>C (n.382A>C) c.*151A>C (n.*151A>C) n.2640A>C n.436A>C | gnomAD v4 |
14 | g.90404777dup | CA2626079729 | CALM1 | c.*60dup (n.*60dup) c.382dup (n.382dup) c.*151dup (n.*151dup) n.2640dup n.436dup | gnomAD v4 |
14 | g.90404778C>A | CA2154484658 | CALM1 | c.*61C>A (n.*61C>A) c.383C>A (n.383C>A) c.*152C>A (n.*152C>A) n.2641C>A n.437C>A | dbSNP gnomAD v4 |
14 | g.90404778C= | CA2154484656 | CALM1 | c.*61C= (n.*61C=) c.383C= (n.383C=) c.*152C= (n.*152C=) n.2641C= n.437C= | |
14 | g.90404778C>T | CA2626079732 | CALM1 | c.*61C>T (n.*61C>T) c.383C>T (n.383C>T) c.*152C>T (n.*152C>T) n.2641C>T n.437C>T | gnomAD v4 |
14 | g.90404778_90404785del | CA2802557308 | CALM1 | c.*61_*68del (n.*61_*68del) c.383_390del (n.383_390del) c.*152_*159del (n.*152_*159del) n.2641_2648del n.437_444del | |
14 | g.90404779C>A | CA2626079733 | CALM1 | c.*62C>A (n.*62C>A) c.384C>A (n.384C>A) c.*153C>A (n.*153C>A) n.2642C>A n.438C>A | gnomAD v4 |
14 | g.90404779C>G | CA2626079734 | CALM1 | c.*62C>G (n.*62C>G) c.384C>G (n.384C>G) c.*153C>G (n.*153C>G) n.2642C>G n.438C>G | gnomAD v4 |
14 | g.90404779C>T | CA2626079735 | CALM1 | c.*62C>T (n.*62C>T) c.384C>T (n.384C>T) c.*153C>T (n.*153C>T) n.2642C>T n.438C>T | gnomAD v4 |
14 | g.90404781C>A | CA2626079736 | CALM1 | c.*64C>A (n.*64C>A) c.386C>A (n.386C>A) c.*155C>A (n.*155C>A) n.2644C>A n.440C>A | gnomAD v4 |
14 | g.90404781C= | CA2154484661 | CALM1 | c.*64C= (n.*64C=) c.386C= (n.386C=) c.*155C= (n.*155C=) n.2644C= n.440C= | |
14 | g.90404781C>G | CA2154484662 | CALM1 | c.*64C>G (n.*64C>G) c.386C>G (n.386C>G) c.*155C>G (n.*155C>G) n.2644C>G n.440C>G | dbSNP |
14 | g.90404784G>A | CA2626079738 | CALM1 | c.*67G>A (n.*67G>A) c.389G>A (n.389G>A) c.*158G>A (n.*158G>A) n.2647G>A n.443G>A | gnomAD v4 |
14 | g.90404784G>T | CA2802557309 | CALM1 | c.*67G>T (n.*67G>T) c.389G>T (n.389G>T) c.*158G>T (n.*158G>T) n.2647G>T n.443G>T | |
14 | g.90404784dup | CA2626079737 | CALM1 | c.*67dup (n.*67dup) c.389dup (n.389dup) c.*158dup (n.*158dup) n.2647dup n.443dup | gnomAD v4 |
14 | g.90404784_90404785delinsGC | CA2154484664 | CALM1 | c.*67_*68delinsGC (n.*67_*68delinsGC) c.389_390delinsGC (n.389_390delinsGC) c.*158_*159delinsGC (n.*158_*159delinsGC) n.2647_2648delinsGC n.443_444delinsGC | |
14 | g.90404785del | CA709827849 | CALM1 | c.*68del (n.*68del) c.390del (n.390del) c.*159del (n.*159del) n.2648del n.444del | dbSNP |
14 | g.90404785C>A | CA965861386 | CALM1 | c.*68C>A (n.*68C>A) c.390C>A (n.390C>A) c.*159C>A (n.*159C>A) n.2648C>A n.444C>A | gnomAD v3 gnomAD v4 |
14 | g.90404785C= | CA2154484673 | CALM1 | c.*68C= (n.*68C=) c.390C= (n.390C=) c.*159C= (n.*159C=) n.2648C= n.444C= | |
14 | g.90404785C>T | CA264948561 | CALM1 | c.*68C>T (n.*68C>T) c.390C>T (n.390C>T) c.*159C>T (n.*159C>T) n.2648C>T n.444C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404785_90404792delinsCAAAAAAA | CA2154484675 | CALM1 | c.*68_*75delinsCAAAAAAA (n.*68_*75delinsCAAAAAAA) c.390_397delinsCAAAAAAA (n.390_397delinsCAAAAAAA) c.*159_*166delinsCAAAAAAA (n.*159_*166delinsCAAAAAAA) n.2648_2655delinsCAAAAAAA | |
14 | g.90404785_90404793delinsCAAAAAAAA | CA2154484677 | CALM1 | c.*68_*76delinsCAAAAAAAA (n.*68_*76delinsCAAAAAAAA) c.390_398delinsCAAAAAAAA (n.390_398delinsCAAAAAAAA) c.*159_*167delinsCAAAAAAAA (n.*159_*167delinsCAAAAAAAA) n.2648_2656delinsCAAAAAAAA | |
14 | g.90404785_90404801delinsCAAAAAAAAGAAAAAAG | CA2154484678 | CALM1 | c.*68_*84delinsCAAAAAAAAGAAAAAAG (n.*68_*84delinsCAAAAAAAAGAAAAAAG) c.390_406delinsCAAAAAAAAGAAAAAAG (n.390_406delinsCAAAAAAAAGAAAAAAG) c.*159_*175delinsCAAAAAAAAGAAAAAAG (n.*159_*175delinsCAAAAAAAAGAAAAAAG) n.2648_2664delinsCAAAAAAAAGAAAAAAG | |
14 | g.90404786_90404793del | CA2154484682 | CALM1 | c.*69_*76del (n.*69_*76del) c.391_398del (n.391_398del) c.*160_*167del (n.*160_*167del) n.2649_2656del | dbSNP |
14 | g.90404793dup | CA655884337 | CALM1 | c.*76dup (n.*76dup) c.398dup (n.398dup) c.*167dup (n.*167dup) n.2656dup | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.90404787_90404793dup | CA2802557310 | CALM1 | c.*70_*76dup (n.*70_*76dup) c.392_398dup (n.392_398dup) c.*161_*167dup (n.*161_*167dup) n.2650_2656dup | |
14 | g.90404793del | CA2562973306 | CALM1 | c.*76del (n.*76del) c.398del (n.398del) c.*167del (n.*167del) n.2656del | gnomAD v4 |
14 | g.90404791_90404793del | CA2626079739 | CALM1 | c.*74_*76del (n.*74_*76del) c.396_398del (n.396_398del) c.*165_*167del (n.*165_*167del) n.2654_2656del | gnomAD v4 |
14 | g.90404787_90404793del | CA264948563 | CALM1 | c.*70_*76del (n.*70_*76del) c.392_398del (n.392_398del) c.*161_*167del (n.*161_*167del) n.2650_2656del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404792_90404807del | CA919475903 | CALM1 | c.*75_*90del (n.*75_*90del) c.397_412del (n.397_412del) c.*166_*181del (n.*166_*181del) n.2655_2670del | dbSNP |
14 | g.90404787A= | CA2154484691 | CALM1 | c.*70A= (n.*70A=) c.392A= (n.392A=) c.*161A= (n.*161A=) n.2650A= | |
14 | g.90404787A>G | CA264948565 | CALM1 | c.*70A>G (n.*70A>G) c.392A>G (n.392A>G) c.*161A>G (n.*161A>G) n.2650A>G | dbSNP gnomAD v4 |
14 | g.90404787_90404794delinsAAAAAAAG | CA2154484690 | CALM1 | c.*70_*77delinsAAAAAAAG (n.*70_*77delinsAAAAAAAG) c.392_399delinsAAAAAAAG (n.392_399delinsAAAAAAAG) c.*161_*168delinsAAAAAAAG (n.*161_*168delinsAAAAAAAG) n.2650_2657delinsAAAAAAAG | |
14 | g.90404802_90404808del | CA615948309 | CALM1 | c.*85_*91del (n.*85_*91del) c.407_413del (n.407_413del) c.*176_*182del (n.*176_*182del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404790A= | CA2154484693 | CALM1 | c.*73A= (n.*73A=) c.395A= (n.395A=) c.*164A= (n.*164A=) n.2653A= | |
14 | g.90404790A>C | CA2154484695 | CALM1 | c.*73A>C (n.*73A>C) c.395A>C (n.395A>C) c.*164A>C (n.*164A>C) n.2653A>C | dbSNP gnomAD v4 |
14 | g.90404791A>G | CA2626079740 | CALM1 | c.*74A>G (n.*74A>G) c.396A>G (n.396A>G) c.*165A>G (n.*165A>G) n.2654A>G | gnomAD v4 |
14 | g.90404794_90404804del | CA2802557311 | CALM1 | c.*77_*87del (n.*77_*87del) c.399_409del (n.399_409del) c.*168_*178del (n.*168_*178del) n.2657_2667del | |
14 | g.90404792A= | CA2154484700 | CALM1 | c.*75A= (n.*75A=) c.397A= (n.397A=) c.*166A= (n.*166A=) n.2655A= | |
14 | g.90404792A>G | CA2154484701 | CALM1 | c.*75A>G (n.*75A>G) c.397A>G (n.397A>G) c.*166A>G (n.*166A>G) n.2655A>G | dbSNP |