Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.19117019C>A | CA367015723 | TWIST1 | c.303G>T (p.Gln101His) c.100G>T n.654G>T n.618G>T | gnomAD v4 |
7 | g.19117019C= | CA1692250768 | TWIST1 | c.303G= (p.Gln101=) c.100G= n.654G= n.618G= | |
7 | g.19117019C>G | CA4174510 | TWIST1 | c.303G>C (p.Gln101His) c.100G>C n.654G>C n.618G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19117019C>T | CA4174511 | TWIST1 | c.303G>A (p.Gln101=) c.100G>A n.654G>A n.618G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19117020T>A | CA367015724 | TWIST1 | c.302A>T (p.Gln101Leu) c.99A>T n.653A>T n.617A>T | gnomAD v4 |
7 | g.19117020T>C | CA4174512 | TWIST1 | c.302A>G (p.Gln101Arg) c.99A>G n.653A>G n.617A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19117020T>G | CA367015725 | TWIST1 | c.302A>C (p.Gln101Pro) c.99A>C n.653A>C n.617A>C | |
7 | g.19117020T= | CA1692250770 | TWIST1 | c.302A= (p.Gln101=) c.99A= n.653A= n.617A= | |
7 | g.19117021G>A | CA367015728 | TWIST1 | c.301C>T (p.Gln101Ter) c.98C>T n.652C>T n.616C>T | ClinVar dbSNP gnomAD v4 |
7 | g.19117021G>C | CA367015727 | TWIST1 | c.301C>G (p.Gln101Glu) c.98C>G n.652C>G n.616C>G | |
7 | g.19117021G= | CA1692250773 | TWIST1 | c.301C= (p.Gln101=) c.98C= n.652C= n.616C= | |
7 | g.19117021G>T | CA367015726 | TWIST1 | c.301C>A (p.Gln101Lys) c.98C>A n.652C>A n.616C>A | gnomAD v4 |
7 | g.19117022C>A | CA4174513 | TWIST1 | c.300G>T (p.Pro100=) c.97G>T n.651G>T n.615G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19117022C= | CA1692250780 | TWIST1 | c.300G= (p.Pro100=) c.97G= n.651G= n.615G= | |
7 | g.19117022C>G | CA454143875 | TWIST1 | c.300G>C (p.Pro100=) c.97G>C n.651G>C n.615G>C | |
7 | g.19117022C>T | CA454143877 | TWIST1 | c.300G>A (p.Pro100=) c.97G>A n.651G>A n.615G>A | gnomAD v4 COSMIC |
7 | g.19117023G>A | CA367015729 | TWIST1 | c.299C>T (p.Pro100Leu) c.96C>T n.650C>T n.614C>T | |
7 | g.19117023G>C | CA367015730 | TWIST1 | c.299C>G (p.Pro100Arg) c.96C>G n.650C>G n.614C>G | |
7 | g.19117023G>T | CA367015731 | TWIST1 | c.299C>A (p.Pro100Gln) c.96C>A n.650C>A n.614C>A | gnomAD v4 |
7 | g.19117024G>A | CA367015732 | TWIST1 | c.298C>T (p.Pro100Ser) c.95C>T n.649C>T n.613C>T | COSMIC |
7 | g.19117024G>C | CA367015733 | TWIST1 | c.298C>G (p.Pro100Ala) c.95C>G n.649C>G n.613C>G | |
7 | g.19117024G>T | CA367015734 | TWIST1 | c.298C>A (p.Pro100Thr) c.95C>A n.649C>A n.613C>A | gnomAD v4 |
7 | g.19117025A>C | CA367015735 | TWIST1 | c.297T>G (p.Ser99Arg) c.94T>G n.648T>G n.612T>G | dbSNP gnomAD v4 |
7 | g.19117025A>G | CA454143881 | TWIST1 | c.297T>C (p.Ser99=) c.94T>C n.648T>C n.612T>C | gnomAD v4 |
7 | g.19117025A>T | CA367015736 | TWIST1 | c.297T>A (p.Ser99Arg) c.94T>A n.648T>A n.612T>A | |
7 | g.19117025_19117040delinsACTCCCGCCGCCGCTG | CA1692250783 | TWIST1 | c.282_297delinsCAGCGGCGGCGGGAGT (p.Ser94=) c.79_94delinsCAGCGGCGGCGGGAGT n.633_648delinsCAGCGGCGGCGGGAGT n.597_612delinsCAGCGGCGGCGGGAGT | |
7 | g.19117025_19117042del | CA2580615856 | TWIST1 | c.280_297del (p.Ser94_Ser99del) c.77_94del n.631_648del n.595_612del | ClinVar |
7 | g.19117025_19117043delinsACTCCCGCCGCCGCTGCTG | CA1692250785 | TWIST1 | c.279_297delinsCAGCAGCGGCGGCGGGAGT (p.Ser93=) c.76_94delinsCAGCAGCGGCGGCGGGAGT n.630_648delinsCAGCAGCGGCGGCGGGAGT n.594_612delinsCAGCAGCGGCGGCGGGAGT | |
7 | g.19117026C>A | CA367015737 | TWIST1 | c.296G>T (p.Ser99Ile) c.93G>T n.647G>T n.611G>T | gnomAD v4 |
7 | g.19117026C= | CA1692250794 | TWIST1 | c.296G= (p.Ser99=) c.93G= n.647G= n.611G= | |
7 | g.19117026C>G | CA367015739 | TWIST1 | c.296G>C (p.Ser99Thr) c.93G>C n.647G>C n.611G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117026C>T | CA367015738 | TWIST1 | c.296G>A (p.Ser99Asn) c.93G>A n.647G>A n.611G>A | |
7 | g.19117028_19117042del | CA836362195 | TWIST1 | c.282_296del (p.Ser95_Ser99del) c.79_93del n.633_647del n.597_611del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117028_19117045del | CA573294103 | TWIST1 | c.279_296del (p.Ser94_Ser99del) c.76_93del n.630_647del n.594_611del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117027T>A | CA367015740 | TWIST1 | c.295A>T (p.Ser99Cys) c.92A>T n.646A>T n.610A>T | |
7 | g.19117027T>C | CA367015741 | TWIST1 | c.295A>G (p.Ser99Gly) c.92A>G n.646A>G n.610A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117027T>G | CA367015742 | TWIST1 | c.295A>C (p.Ser99Arg) c.92A>C n.646A>C n.610A>C | |
7 | g.19117027T= | CA1692250799 | TWIST1 | c.295A= (p.Ser99=) c.92A= n.646A= n.610A= | |
7 | g.19117027_19117048delinsTCCCGCCGCCGCTGCTGCTGCC | CA1692250797 | TWIST1 | c.274_295delinsGGCAGCAGCAGCGGCGGCGGGA (p.Gly92=) c.71_92delinsGGCAGCAGCAGCGGCGGCGGGA n.625_646delinsGGCAGCAGCAGCGGCGGCGGGA n.589_610delinsGGCAGCAGCAGCGGCGGCGGGA | |
7 | g.19117028C>A | CA454143888 | TWIST1 | c.294G>T (p.Gly98=) c.91G>T n.645G>T n.609G>T | gnomAD v4 |
7 | g.19117028C= | CA1692250806 | TWIST1 | c.294G= (p.Gly98=) c.91G= n.645G= n.609G= | |
7 | g.19117028C>G | CA454143889 | TWIST1 | c.294G>C (p.Gly98=) c.91G>C n.645G>C n.609G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117028C>T | CA454143890 | TWIST1 | c.294G>A (p.Gly98=) c.91G>A n.645G>A n.609G>A | gnomAD v4 COSMIC |
7 | g.19117029_19117033del | CA2740097308 | TWIST1 | c.290_294del (p.Gly97GlufsTer?) c.87_91del n.641_645del n.605_609del | ClinVar |
7 | g.19117028_19117046delinsCCCGCCGCCGCTGCTGCTG | CA1692250808 | TWIST1 | c.276_294delinsCAGCAGCAGCGGCGGCGGG (p.Gly92=) c.73_91delinsCAGCAGCAGCGGCGGCGGG n.627_645delinsCAGCAGCAGCGGCGGCGGG n.591_609delinsCAGCAGCAGCGGCGGCGGG | |
7 | g.19117028_19117048del | CA836362211 | TWIST1 | c.274_294del (p.Gly92_Gly98del) c.71_91del n.625_645del n.589_609del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117028_19117049delinsCCCGCCGCCGCTGCTGCTGCCG | CA1692250807 | TWIST1 | c.273_294delinsCGGCAGCAGCAGCGGCGGCGGG (p.Gly91=) c.70_91delinsCGGCAGCAGCAGCGGCGGCGGG n.624_645delinsCGGCAGCAGCAGCGGCGGCGGG n.588_609delinsCGGCAGCAGCAGCGGCGGCGGG | |
7 | g.19117033_19117063del | CA2681939413 | TWIST1 | c.264_294del (p.Gly89ValfsTer26) c.61_91del n.615_645del n.579_609del | gnomAD v4 |
7 | g.19117029C>A | CA155466601 | TWIST1 | c.293G>T (p.Gly98Val) c.90G>T n.644G>T n.608G>T | dbSNP gnomAD v4 |
7 | g.19117029C= | CA1692250822 | TWIST1 | c.293G= (p.Gly98=) c.90G= n.644G= n.608G= | |
7 | g.19117029C>G | CA367015744 | TWIST1 | c.293G>C (p.Gly98Ala) c.90G>C n.644G>C n.608G>C | |
7 | g.19117029C>T | CA367015743 | TWIST1 | c.293G>A (p.Gly98Glu) c.90G>A n.644G>A n.608G>A | gnomAD v4 |
7 | g.19117036_19117038dup | CA4174515 | TWIST1 | c.291_293dup (p.Gly98_Ser99insGly) c.88_90dup n.642_644dup n.606_608dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117036_19117038del | CA2681939417 | TWIST1 | c.291_293del (p.Gly98del) c.88_90del n.642_644del n.606_608del | gnomAD v4 |
7 | g.19117039_19117056dup | CA155466600 | TWIST1 | c.276_293dup (p.Gly98_Ser99insSerSerSerGlyGlyGly) c.73_90dup n.627_644dup n.591_608dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117039_19117056del | CA4174514 | TWIST1 | c.276_293del (p.Ser93_Gly98del) c.73_90del n.627_644del n.591_608del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117039_19117059dup | CA916082913 | TWIST1 | c.273_293dup (p.Gly98_Ser99insGlySerSerSerGlyGlyGly) c.70_90dup n.624_644dup n.588_608dup | ClinVar dbSNP gnomAD v4 |
7 | g.19117039_19117059del | CA573294104 | TWIST1 | c.273_293del (p.Gly92_Gly98del) c.70_90del n.624_644del n.588_608del | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117037_19117060del | CA2681939416 | TWIST1 | c.270_293del (p.Gly91_Gly98del) c.67_90del n.621_644del n.585_608del | gnomAD v4 |
7 | g.19117029_19117062delinsCCGCCGCCGCTGCTGCTGCCGCCGCCGCCGCCCG | CA1692250824 | TWIST1 | c.260_293delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG (p.Ala87=) c.57_90delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG n.611_644delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG n.575_608delinsCGGGCGGCGGCGGCGGCAGCAGCAGCGGCGGCGG | |
7 | g.19117039_19117074dup | CA2681939418 | TWIST1 | c.258_293dup (p.Gly98_Ser99insAlaGlyGlyGlyGlyGlySerSerSerGlyGlyGly) c.55_90dup n.609_644dup n.573_608dup | gnomAD v4 |
7 | g.19117039_19117074del | CA2681939415 | TWIST1 | c.258_293del (p.Ala87_Gly98del) c.55_90del n.609_644del n.573_608del | dbSNP gnomAD v4 |
7 | g.19117039_19117077del | CA2681939414 | TWIST1 | c.255_293del (p.Gly86_Gly98del) c.52_90del n.606_644del n.570_608del | gnomAD v4 |
7 | g.19117030C>A | CA367015745 | TWIST1 | c.292G>T (p.Gly98Trp) c.89G>T n.643G>T n.607G>T | |
7 | g.19117030C= | CA1692250830 | TWIST1 | c.292G= (p.Gly98=) c.89G= n.643G= n.607G= | |
7 | g.19117030C>G | CA367015746 | TWIST1 | c.292G>C (p.Gly98Arg) c.89G>C n.643G>C n.607G>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117030C>T | CA367015747 | TWIST1 | c.292G>A (p.Gly98Arg) c.89G>A n.643G>A n.607G>A | gnomAD v4 |
7 | g.19117030_19117045delinsCGCCGCCGCTGCTGCT | CA1692250832 | TWIST1 | c.277_292delinsAGCAGCAGCGGCGGCG (p.Ser93=) c.74_89delinsAGCAGCAGCGGCGGCG n.628_643delinsAGCAGCAGCGGCGGCG n.592_607delinsAGCAGCAGCGGCGGCG | |
7 | g.19117039_19117071del | CA4174516 | TWIST1 | c.260_292del (p.Ala87_Gly97del) c.57_89del n.611_643del n.575_607del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117031G>A | CA155466602 | TWIST1 | c.291C>T (p.Gly97=) c.88C>T n.642C>T n.606C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117031G>C | CA454143895 | TWIST1 | c.291C>G (p.Gly97=) c.88C>G n.642C>G n.606C>G | dbSNP |
7 | g.19117031G= | CA1692250837 | TWIST1 | c.291C= (p.Gly97=) c.88C= n.642C= n.606C= | |
7 | g.19117031G>T | CA454143896 | TWIST1 | c.291C>A (p.Gly97=) c.88C>A n.642C>A n.606C>A | gnomAD v4 |
7 | g.19117039_19117053dup | CA573294106 | TWIST1 | c.277_291dup (p.Gly97_Gly98insSerSerSerGlyGly) c.74_88dup n.628_642dup n.592_606dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117039_19117053del | CA573294105 | TWIST1 | c.277_291del (p.Ser93_Gly97del) c.74_88del n.628_642del n.592_606del | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117032C>A | CA367015748 | TWIST1 | c.290G>T (p.Gly97Val) c.87G>T n.641G>T n.605G>T | gnomAD v4 |
7 | g.19117032C>G | CA367015749 | TWIST1 | c.290G>C (p.Gly97Ala) c.87G>C n.641G>C n.605G>C | gnomAD v4 |
7 | g.19117032C>T | CA367015750 | TWIST1 | c.290G>A (p.Gly97Asp) c.87G>A n.641G>A n.605G>A | gnomAD v4 |
7 | g.19117033C>A | CA367015751 | TWIST1 | c.289G>T (p.Gly97Cys) c.86G>T n.640G>T n.604G>T | gnomAD v4 |
7 | g.19117033C= | CA1692250842 | TWIST1 | c.289G= (p.Gly97=) c.86G= n.640G= n.604G= | |
7 | g.19117033C>G | CA367015752 | TWIST1 | c.289G>C (p.Gly97Arg) c.86G>C n.640G>C n.604G>C | |
7 | g.19117033C>T | CA367015753 | TWIST1 | c.289G>A (p.Gly97Ser) c.86G>A n.640G>A n.604G>A | COSMIC |
7 | g.19117034G>A | CA454143907 | TWIST1 | c.288C>T (p.Gly96=) c.85C>T n.639C>T n.603C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.19117034G>C | CA454143906 | TWIST1 | c.288C>G (p.Gly96=) c.85C>G n.639C>G n.603C>G | |
7 | g.19117034G= | CA1692250847 | TWIST1 | c.288C= (p.Gly96=) c.85C= n.639C= n.603C= | |
7 | g.19117034G>T | CA454143904 | TWIST1 | c.288C>A (p.Gly96=) c.85C>A n.639C>A n.603C>A | gnomAD v4 |
7 | g.19117036_19117041dup | CA2681939419 | TWIST1 | c.283_288dup (p.Gly96_Gly97insSerGly) c.80_85dup n.634_639dup n.598_603dup | gnomAD v4 |
7 | g.19117039_19117050dup | CA454143901 | TWIST1 | c.277_288dup (p.Gly96_Gly97insSerSerSerGly) c.74_85dup n.628_639dup n.592_603dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117035C>A | CA367015755 | TWIST1 | c.287G>T (p.Gly96Val) c.84G>T n.638G>T n.602G>T | gnomAD v4 |
7 | g.19117035C= | CA1692250850 | TWIST1 | c.287G= (p.Gly96=) c.84G= n.638G= n.602G= | |
7 | g.19117035C>G | CA4174517 | TWIST1 | c.287G>C (p.Gly96Ala) c.84G>C n.638G>C n.602G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.19117035C>T | CA367015754 | TWIST1 | c.287G>A (p.Gly96Asp) c.84G>A n.638G>A n.602G>A | gnomAD v4 |
7 | g.19117036C>A | CA367015756 | TWIST1 | c.286G>T (p.Gly96Cys) c.83G>T n.637G>T n.601G>T | gnomAD v4 |
7 | g.19117036C= | CA1692250854 | TWIST1 | c.286G= (p.Gly96=) c.83G= n.637G= n.601G= | |
7 | g.19117036C>G | CA367015757 | TWIST1 | c.286G>C (p.Gly96Arg) c.83G>C n.637G>C n.601G>C | |
7 | g.19117036C>T | CA4174520 | TWIST1 | c.286G>A (p.Gly96Ser) c.83G>A n.637G>A n.601G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117036_19117039delinsCGCT | CA1692250856 | TWIST1 | c.283_286delinsAGCG (p.Ser95=) c.80_83delinsAGCG n.634_637delinsAGCG n.598_601delinsAGCG | |
7 | g.19117037G>A | CA454143917 | TWIST1 | c.285C>T (p.Ser95=) c.82C>T n.636C>T n.600C>T | gnomAD v4 COSMIC |
7 | g.19117037G>C | CA367015758 | TWIST1 | c.285C>G (p.Ser95Arg) c.82C>G n.636C>G n.600C>G | gnomAD v4 |
7 | g.19117037G= | CA1692250865 | TWIST1 | c.285C= (p.Ser95=) c.82C= n.636C= n.600C= | |
7 | g.19117037G>T | CA367015759 | TWIST1 | c.285C>A (p.Ser95Arg) c.82C>A n.636C>A n.600C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117045_19117047dup | CA4174519 | TWIST1 | c.283_285dup (p.Ser95_Gly96insSer) c.80_82dup n.634_636dup n.598_600dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117042_19117047dup | CA1692250867 | TWIST1 | c.280_285dup (p.Ser95_Gly96insSerSer) c.77_82dup n.631_636dup n.595_600dup | ClinVar dbSNP gnomAD v4 |
7 | g.19117039_19117047dup | CA2681939420 | TWIST1 | c.277_285dup (p.Ser95_Gly96insSerSerSer) c.74_82dup n.628_636dup n.592_600dup | gnomAD v4 |
7 | g.19117045_19117047del | CA4174518 | TWIST1 | c.283_285del (p.Ser95del) c.80_82del n.634_636del n.598_600del | dbSNP ExAC gnomAD v4 |
7 | g.19117038C>A | CA367015760 | TWIST1 | c.284G>T (p.Ser95Ile) c.81G>T n.635G>T n.599G>T | gnomAD v4 |
7 | g.19117038C>G | CA367015761 | TWIST1 | c.284G>C (p.Ser95Thr) c.81G>C n.635G>C n.599G>C | |
7 | g.19117038C>T | CA367015762 | TWIST1 | c.284G>A (p.Ser95Asn) c.81G>A n.635G>A n.599G>A | gnomAD v4 |
7 | g.19117039del | CA2681939421 | TWIST1 | c.283del (p.Ser95AlafsTer30) c.80del n.634del n.598del | gnomAD v4 |
7 | g.19117039T>A | CA367015763 | TWIST1 | c.283A>T (p.Ser95Cys) c.80A>T n.634A>T n.598A>T | |
7 | g.19117039T>C | CA4174522 | TWIST1 | c.283A>G (p.Ser95Gly) c.80A>G n.634A>G n.598A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117039T>G | CA367015764 | TWIST1 | c.283A>C (p.Ser95Arg) c.80A>C n.634A>C n.598A>C | |
7 | g.19117039T= | CA1692250871 | TWIST1 | c.283A= (p.Ser95=) c.80A= n.634A= n.598A= | |
7 | g.19117039delinsCG | CA1139655408 | TWIST1 | c.283delinsCG (p.Ser95ArgfsTer?) c.80delinsCG n.634delinsCG n.598delinsCG | |
7 | g.19117039_19117040del | CA2578839879 | TWIST1 | c.282_283del (p.Ser94ArgfsTer?) c.79_80del n.633_634del n.597_598del | |
7 | g.19117039_19117057delinsTGCTGCTGCCGCCGCCGCC | CA1692250873 | TWIST1 | c.265_283delinsGGCGGCGGCGGCAGCAGCA (p.Gly89=) c.62_80delinsGGCGGCGGCGGCAGCAGCA n.616_634delinsGGCGGCGGCGGCAGCAGCA n.580_598delinsGGCGGCGGCGGCAGCAGCA | |
7 | g.19117039_19117066delinsTGCTGCTGCCGCCGCCGCCGCCCGCGCC | CA1692250874 | TWIST1 | c.256_283delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA (p.Gly86=) c.53_80delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA n.607_634delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA n.571_598delinsGGCGCGGGCGGCGGCGGCGGCAGCAGCA | |
7 | g.19117040G>A | CA454143925 | TWIST1 | c.282C>T (p.Ser94=) c.79C>T n.633C>T n.597C>T | gnomAD v4 |
7 | g.19117040G>C | CA367015766 | TWIST1 | c.282C>G (p.Ser94Arg) c.79C>G n.633C>G n.597C>G | |
7 | g.19117040G>T | CA367015765 | TWIST1 | c.282C>A (p.Ser94Arg) c.79C>A n.633C>A n.597C>A | gnomAD v4 |
7 | g.19117042_19117059dup | CA573294107 | TWIST1 | c.265_282dup (p.Ser94_Ser95insGlyGlyGlyGlySerSer) c.62_79dup n.616_633dup n.580_597dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117042_19117059del | CA4174521 | TWIST1 | c.265_282del (p.Gly89_Ser94del) c.62_79del n.616_633del n.580_597del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117040_19117060dup | CA2681939424 | TWIST1 | c.262_282dup (p.Ser94_Ser95insGlyGlyGlyGlyGlySerSer) c.59_79dup n.613_633dup n.577_597dup | gnomAD v4 |
7 | g.19117042_19117068del | CA573294108 | TWIST1 | c.256_282del (p.Gly86_Ser94del) c.53_79del n.607_633del n.571_597del | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117042_19117077dup | CA2681939423 | TWIST1 | c.247_282dup (p.Ser94_Ser95insGlyGlyGlyGlyAlaGlyGlyGlyGlyGlySerSer) c.44_79dup n.598_633dup n.562_597dup | gnomAD v4 |
7 | g.19117041C>A | CA367015767 | TWIST1 | c.281G>T (p.Ser94Ile) c.78G>T n.632G>T n.596G>T | dbSNP gnomAD v4 |
7 | g.19117041C= | CA1692250880 | TWIST1 | c.281G= (p.Ser94=) c.78G= n.632G= n.596G= | |
7 | g.19117041C>G | CA367015768 | TWIST1 | c.281G>C (p.Ser94Thr) c.78G>C n.632G>C n.596G>C | |
7 | g.19117041C>T | CA367015769 | TWIST1 | c.281G>A (p.Ser94Asn) c.78G>A n.632G>A n.596G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117041_19117042del | CA2681939425 | TWIST1 | c.280_281del (p.Ser94GlnfsTer?) c.77_78del n.631_632del n.595_596del | gnomAD v4 |
7 | g.19117042_19117051dup | CA2695207485 | TWIST1 | c.272_281dup (p.Ser94ArgfsTer?) c.69_78dup n.623_632dup n.587_596dup | |
7 | g.19117041_19117072del | CA2681939426 | TWIST1 | c.250_281del (p.Gly84GlnfsTer?) c.47_78del n.601_632del n.565_596del | gnomAD v4 |
7 | g.19117042T>A | CA367015770 | TWIST1 | c.280A>T (p.Ser94Cys) c.77A>T n.631A>T n.595A>T | |
7 | g.19117042T>C | CA367015771 | TWIST1 | c.280A>G (p.Ser94Gly) c.77A>G n.631A>G n.595A>G | gnomAD v4 |
7 | g.19117042T>G | CA367015772 | TWIST1 | c.280A>C (p.Ser94Arg) c.77A>C n.631A>C n.595A>C | |
7 | g.19117042T= | CA1692250884 | TWIST1 | c.280A= (p.Ser94=) c.77A= n.631A= n.595A= | |
7 | g.19117042_19117063delinsTGCTGCCGCCGCCGCCGCCCGC | CA1692250882 | TWIST1 | c.259_280delinsGCGGGCGGCGGCGGCGGCAGCA (p.Ala87=) c.56_77delinsGCGGGCGGCGGCGGCGGCAGCA n.610_631delinsGCGGGCGGCGGCGGCGGCAGCA n.574_595delinsGCGGGCGGCGGCGGCGGCAGCA | |
7 | g.19117042_19117069delinsTGCTGCCGCCGCCGCCGCCCGCGCCGCC | CA1692250885 | TWIST1 | c.253_280delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA (p.Gly85=) c.50_77delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA n.604_631delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA n.568_595delinsGGCGGCGCGGGCGGCGGCGGCGGCAGCA | |
7 | g.19117043G>A | CA454143773 | TWIST1 | c.279C>T (p.Ser93=) c.76C>T n.630C>T n.594C>T | gnomAD v4 |
7 | g.19117043G>C | CA367015773 | TWIST1 | c.279C>G (p.Ser93Arg) c.76C>G n.630C>G n.594C>G | |
7 | g.19117043G>T | CA367015774 | TWIST1 | c.279C>A (p.Ser93Arg) c.76C>A n.630C>A n.594C>A | gnomAD v4 |
7 | g.19117043_19117044insGCCGCCG | CA2695207486 | TWIST1 | c.279_280insGGCGGCC (p.Ser94GlyfsTer?) c.76_77insGGCGGCC n.630_631insGGCGGCC n.594_595insGGCGGCC | |
7 | g.19117044_19117045insCGC | CA2681939430 | TWIST1 | c.279_280insGGC (p.Ser93_Ser94insGly) c.76_77insGGC n.630_631insGGC n.594_595insGGC | gnomAD v4 |
7 | g.19117045_19117050dup | CA155466603 | TWIST1 | c.274_279dup (p.Ser93_Ser94insGlySer) c.71_76dup n.625_630dup n.589_594dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117045_19117050del | CA2681939427 | TWIST1 | c.274_279del (p.Gly92_Ser93del) c.71_76del n.625_630del n.589_594del | gnomAD v4 |
7 | g.19117045_19117053dup | CA1692250890 | TWIST1 | c.271_279dup (p.Ser93_Ser94insGlyGlySer) c.68_76dup n.622_630dup n.586_594dup | dbSNP gnomAD v4 |
7 | g.19117045_19117065del | CA573294067 | TWIST1 | c.259_279del (p.Ala87_Ser93del) c.56_76del n.610_630del n.574_594del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117045_19117071del | CA4174523 | TWIST1 | c.253_279del (p.Gly85_Ser93del) c.50_76del n.604_630del n.568_594del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117045_19117074dup | CA1099032775 | TWIST1 | c.250_279dup (p.Ser93_Ser94insGlyGlyGlyAlaGlyGlyGlyGlyGlySer) c.47_76dup n.601_630dup n.565_594dup | gnomAD v3 gnomAD v4 |
7 | g.19117044C>A | CA367015775 | TWIST1 | c.278G>T (p.Ser93Ile) c.75G>T n.629G>T n.593G>T | gnomAD v4 |
7 | g.19117044C= | CA1692250892 | TWIST1 | c.278G= (p.Ser93=) c.75G= n.629G= n.593G= | |
7 | g.19117044C>G | CA367015776 | TWIST1 | c.278G>C (p.Ser93Thr) c.75G>C n.629G>C n.593G>C | |
7 | g.19117044C>T | CA367015777 | TWIST1 | c.278G>A (p.Ser93Asn) c.75G>A n.629G>A n.593G>A | gnomAD v4 |
7 | g.19117045del | CA2578839880 | TWIST1 | c.277del (p.Ser93AlafsTer?) c.74del n.628del n.592del | |
7 | g.19117045T>A | CA367015779 | TWIST1 | c.277A>T (p.Ser93Cys) c.74A>T n.628A>T n.592A>T | |
7 | g.19117045T>C | CA4174525 | TWIST1 | c.277A>G (p.Ser93Gly) c.74A>G n.628A>G n.592A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117045T>G | CA367015778 | TWIST1 | c.277A>C (p.Ser93Arg) c.74A>C n.628A>C n.592A>C | |
7 | g.19117045T= | CA1692250899 | TWIST1 | c.277A= (p.Ser93=) c.74A= n.628A= n.592A= | |
7 | g.19117045dup | CA915944885 | TWIST1 | c.277dup (p.Ser93LysfsTer?) c.74dup n.628dup n.592dup | ClinVar dbSNP |
7 | g.19117045_19117054delinsTGCCGCCGCC | CA1692250898 | TWIST1 | c.268_277delinsGGCGGCGGCA (p.Gly90=) c.65_74delinsGGCGGCGGCA n.619_628delinsGGCGGCGGCA n.583_592delinsGGCGGCGGCA | |
7 | g.19117045_19117062del | CA645561702 | TWIST1 | c.260_277del (p.Ala87_Ser93delinsGly) c.57_74del n.611_628del n.575_592del | gnomAD v4 COSMIC |
7 | g.19117045_19117069delinsTGCCGCCGCCGCCGCCCGCGCCGCC | CA1692250896 | TWIST1 | c.253_277delinsGGCGGCGCGGGCGGCGGCGGCGGCA (p.Gly85=) c.50_74delinsGGCGGCGCGGGCGGCGGCGGCGGCA n.604_628delinsGGCGGCGCGGGCGGCGGCGGCGGCA n.568_592delinsGGCGGCGCGGGCGGCGGCGGCGGCA | |
7 | g.19117046G>A | CA454143790 | TWIST1 | c.276C>T (p.Gly92=) c.73C>T n.627C>T n.591C>T | gnomAD v4 |
7 | g.19117046G>C | CA454143789 | TWIST1 | c.276C>G (p.Gly92=) c.73C>G n.627C>G n.591C>G | |
7 | g.19117046G= | CA1692250918 | TWIST1 | c.276C= (p.Gly92=) c.73C= n.627C= n.591C= | |
7 | g.19117046G>T | CA454143788 | TWIST1 | c.276C>A (p.Gly92=) c.73C>A n.627C>A n.591C>A | gnomAD v4 |
7 | g.19117047_19117048insTGCCGCCGCCGCCGCCCGCGCCGC | CA2681939485 | TWIST1 | c.276_277insGGCGCGGGCGGCGGCGGCGGCAGC (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlySer) c.73_74insGGCGCGGGCGGCGGCGGCGGCAGC n.627_628insGGCGCGGGCGGCGGCGGCGGCAGC n.591_592insGGCGCGGGCGGCGGCGGCGGCAGC | gnomAD v4 |
7 | g.19117049_19117050insGCCGCCGCCG | CA2695207487 | TWIST1 | c.276_277insGGCGGCCGGC (p.Ser93GlyfsTer?) c.73_74insGGCGGCCGGC n.627_628insGGCGGCCGGC n.591_592insGGCGGCCGGC | |
7 | g.19117057_19117058insCGCGCCGCCGCCGCCGCC | CA2681939498 | TWIST1 | c.276_277insGGCGCGGGCGGCGGCGGC (p.Gly92_Ser93insGlyAlaGlyGlyGlyGly) c.73_74insGGCGCGGGCGGCGGCGGC n.627_628insGGCGCGGGCGGCGGCGGC n.591_592insGGCGCGGGCGGCGGCGGC | gnomAD v4 |
7 | g.19117058_19117060dup | CA155466604 | TWIST1 | c.274_276dup (p.Gly92_Ser93insGly) c.71_73dup n.625_627dup n.589_591dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117055_19117060dup | CA573294068 | TWIST1 | c.271_276dup (p.Gly92_Ser93insGlyGly) c.68_73dup n.622_627dup n.586_591dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117052_19117060dup | CA1692250919 | TWIST1 | c.268_276dup (p.Gly92_Ser93insGlyGlyGly) c.65_73dup n.619_627dup n.583_591dup | dbSNP |
7 | g.19117049_19117060dup | CA1692250917 | TWIST1 | c.265_276dup (p.Gly92_Ser93insGlyGlyGlyGly) c.62_73dup n.616_627dup n.580_591dup | dbSNP |
7 | g.19117058_19117060del | CA4174526 | TWIST1 | c.274_276del (p.Gly92del) c.71_73del n.625_627del n.589_591del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117055_19117060del | CA1692250913 | TWIST1 | c.271_276del (p.Gly91_Gly92del) c.68_73del n.622_627del n.586_591del | dbSNP gnomAD v4 |
7 | g.19117052_19117060del | CA1692250922 | TWIST1 | c.268_276del (p.Gly90_Gly92del) c.65_73del n.619_627del n.583_591del | dbSNP gnomAD v4 |
7 | g.19117078_19117079insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC | CA1099032803 | TWIST1 | c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGly) c.73_74insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC n.627_628insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC n.591_592insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117078_19117079insGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCCGCCCGCGCCGCCGCCGCCGCC | CA1099032804 | TWIST1 | c.276_277insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGlyGlyAlaGlyGlyGlyGlyGly) c.73_74insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC n.627_628insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC n.591_592insGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGCGGCGCGGGCGGCGGCGGCGGC | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117061_19117078dup | CA917957211 | TWIST1 | c.259_276dup (p.Gly92_Ser93insAlaGlyGlyGlyGlyGly) c.56_73dup n.610_627dup n.574_591dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117058_19117078dup | CA4174528 | TWIST1 | c.256_276dup (p.Gly92_Ser93insGlyAlaGlyGlyGlyGlyGly) c.53_73dup n.607_627dup n.571_591dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117055_19117078dup | CA454143792 | TWIST1 | c.253_276dup (p.Gly92_Ser93insGlyGlyAlaGlyGlyGlyGlyGly) c.50_73dup n.604_627dup n.568_591dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117061_19117078del | CA4174524 | TWIST1 | c.259_276del (p.Ala87_Gly92del) c.56_73del n.610_627del n.574_591del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.19117058_19117078del | CA4174527 | TWIST1 | c.256_276del (p.Gly86_Gly92del) c.53_73del n.607_627del n.571_591del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117055_19117078del | CA1099032810 | TWIST1 | c.253_276del (p.Gly85_Gly92del) c.50_73del n.604_627del n.568_591del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117047C>A | CA367015780 | TWIST1 | c.275G>T (p.Gly92Val) c.72G>T n.626G>T n.590G>T | dbSNP gnomAD v4 |
7 | g.19117047C= | CA1692250939 | TWIST1 | c.275G= (p.Gly92=) c.72G= n.626G= n.590G= | |
7 | g.19117047C>G | CA367015781 | TWIST1 | c.275G>C (p.Gly92Ala) c.72G>C n.626G>C n.590G>C | |
7 | g.19117047C>T | CA367015782 | TWIST1 | c.275G>A (p.Gly92Asp) c.72G>A n.626G>A n.590G>A | gnomAD v4 |
7 | g.19117047_19117061del | CA2681939514 | TWIST1 | c.261_275del (p.Gly88_Gly92del) c.58_72del n.612_626del n.576_590del | gnomAD v4 |
7 | g.19117047_19117061dup | CA1692250937 | TWIST1 | c.261_275dup (p.Gly92_Ser93insGlyGlyGlyGlyGly) c.58_72dup n.612_626dup n.576_590dup | dbSNP |
7 | g.19117047_19117062delinsCCGCCGCCGCCGCCCG | CA1692250938 | TWIST1 | c.260_275delinsCGGGCGGCGGCGGCGG (p.Ala87=) c.57_72delinsCGGGCGGCGGCGGCGG n.611_626delinsCGGGCGGCGGCGGCGG n.575_590delinsCGGGCGGCGGCGGCGG | |
7 | g.19117051_19117063del | CA2695207488 | TWIST1 | c.263_275del (p.Gly88AlafsTer?) c.60_72del n.614_626del n.578_590del | |
7 | g.19117048C>A | CA367015783 | TWIST1 | c.274G>T (p.Gly92Cys) c.71G>T n.625G>T n.589G>T | ClinVar gnomAD v4 |
7 | g.19117048C= | CA1692250948 | TWIST1 | c.274G= (p.Gly92=) c.71G= n.625G= n.589G= | |
7 | g.19117048C>G | CA367015784 | TWIST1 | c.274G>C (p.Gly92Arg) c.71G>C n.625G>C n.589G>C | |
7 | g.19117048C>T | CA155466605 | TWIST1 | c.274G>A (p.Gly92Ser) c.71G>A n.625G>A n.589G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.19117061_19117075dup | CA573294069 | TWIST1 | c.260_274dup (p.Gly91_Gly92insAlaGlyGlyGlyGly) c.57_71dup n.611_625dup n.575_589dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117061_19117075del | CA4174529 | TWIST1 | c.260_274del (p.Ala87_Gly91del) c.57_71del n.611_625del n.575_589del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117049G>A | CA454143800 | TWIST1 | c.273C>T (p.Gly91=) c.70C>T n.624C>T n.588C>T | gnomAD v4 |
7 | g.19117049G>C | CA454143798 | TWIST1 | c.273C>G (p.Gly91=) c.70C>G n.624C>G n.588C>G | |
7 | g.19117049G>T | CA454143801 | TWIST1 | c.273C>A (p.Gly91=) c.70C>A n.624C>A n.588C>A | gnomAD v4 |
7 | g.19117050C>A | CA367015786 | TWIST1 | c.272G>T (p.Gly91Val) c.69G>T n.623G>T n.587G>T | gnomAD v4 |
7 | g.19117050C>G | CA367015787 | TWIST1 | c.272G>C (p.Gly91Ala) c.69G>C n.623G>C n.587G>C | |
7 | g.19117050C>T | CA367015785 | TWIST1 | c.272G>A (p.Gly91Asp) c.69G>A n.623G>A n.587G>A | gnomAD v4 |
7 | g.19117050_19117062delinsCCGCCGCCGCCCG | CA1692250951 | TWIST1 | c.260_272delinsCGGGCGGCGGCGG (p.Ala87=) c.57_69delinsCGGGCGGCGGCGG n.611_623delinsCGGGCGGCGGCGG n.575_587delinsCGGGCGGCGGCGG | |
7 | g.19117051C>A | CA367015788 | TWIST1 | c.271G>T (p.Gly91Cys) c.68G>T n.622G>T n.586G>T | gnomAD v4 |
7 | g.19117051C= | CA1692250956 | TWIST1 | c.271G= (p.Gly91=) c.68G= n.622G= n.586G= | |
7 | g.19117051C>G | CA367015789 | TWIST1 | c.271G>C (p.Gly91Arg) c.68G>C n.622G>C n.586G>C | |
7 | g.19117051C>T | CA367015790 | TWIST1 | c.271G>A (p.Gly91Ser) c.68G>A n.622G>A n.586G>A | dbSNP gnomAD v4 |
7 | g.19117061_19117072dup | CA573294070 | TWIST1 | c.260_271dup (p.Gly90_Gly91insAlaGlyGlyGly) c.57_68dup n.611_622dup n.575_586dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117061_19117072del | CA4174530 | TWIST1 | c.260_271del (p.Ala87_Gly90del) c.57_68del n.611_622del n.575_586del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117052G>A | CA454143806 | TWIST1 | c.270C>T (p.Gly90=) c.67C>T n.621C>T n.585C>T | gnomAD v4 |
7 | g.19117052G>C | CA454143807 | TWIST1 | c.270C>G (p.Gly90=) c.67C>G n.621C>G n.585C>G | |
7 | g.19117052G= | CA1692250961 | TWIST1 | c.270C= (p.Gly90=) c.67C= n.621C= n.585C= | |
7 | g.19117052G>T | CA454143805 | TWIST1 | c.270C>A (p.Gly90=) c.67C>A n.621C>A n.585C>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117053C>A | CA367015793 | TWIST1 | c.269G>T (p.Gly90Val) c.66G>T n.620G>T n.584G>T | gnomAD v4 |
7 | g.19117053C= | CA1692250965 | TWIST1 | c.269G= (p.Gly90=) c.66G= n.620G= n.584G= | |
7 | g.19117053C>G | CA367015792 | TWIST1 | c.269G>C (p.Gly90Ala) c.66G>C n.620G>C n.584G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117053C>T | CA367015791 | TWIST1 | c.269G>A (p.Gly90Asp) c.66G>A n.620G>A n.584G>A | gnomAD v4 |
7 | g.19117054C>A | CA367015794 | TWIST1 | c.268G>T (p.Gly90Cys) c.65G>T n.619G>T n.583G>T | gnomAD v4 |
7 | g.19117054C= | CA1692250970 | TWIST1 | c.268G= (p.Gly90=) c.65G= n.619G= n.583G= | |
7 | g.19117054C>G | CA367015795 | TWIST1 | c.268G>C (p.Gly90Arg) c.65G>C n.619G>C n.583G>C | |
7 | g.19117054C>T | CA367015796 | TWIST1 | c.268G>A (p.Gly90Ser) c.65G>A n.619G>A n.583G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117061_19117069dup | CA836362407 | TWIST1 | c.260_268dup (p.Gly89_Gly90insAlaGlyGly) c.57_65dup n.611_619dup n.575_583dup | dbSNP |
7 | g.19117061_19117069del | CA2681939558 | TWIST1 | c.260_268del (p.Ala87_Gly89del) c.57_65del n.611_619del n.575_583del | gnomAD v4 |
7 | g.19117055G>A | CA454143812 | TWIST1 | c.267C>T (p.Gly89=) c.64C>T n.618C>T n.582C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117055G>C | CA454143813 | TWIST1 | c.267C>G (p.Gly89=) c.64C>G n.618C>G n.582C>G | gnomAD v4 |
7 | g.19117055G= | CA1692250972 | TWIST1 | c.267C= (p.Gly89=) c.64C= n.618C= n.582C= | |
7 | g.19117055G>T | CA454143814 | TWIST1 | c.267C>A (p.Gly89=) c.64C>A n.618C>A n.582C>A | gnomAD v4 |
7 | g.19117056C>A | CA367015797 | TWIST1 | c.266G>T (p.Gly89Val) c.63G>T n.617G>T n.581G>T | gnomAD v4 |
7 | g.19117056C>G | CA367015798 | TWIST1 | c.266G>C (p.Gly89Ala) c.63G>C n.617G>C n.581G>C | gnomAD v4 |
7 | g.19117056C>T | CA367015799 | TWIST1 | c.266G>A (p.Gly89Asp) c.63G>A n.617G>A n.581G>A | gnomAD v4 |
7 | g.19117057C>A | CA367015800 | TWIST1 | c.265G>T (p.Gly89Cys) c.62G>T n.616G>T n.580G>T | gnomAD v4 |
7 | g.19117057C= | CA1692250975 | TWIST1 | c.265G= (p.Gly89=) c.62G= n.616G= n.580G= | |
7 | g.19117057C>G | CA367015802 | TWIST1 | c.265G>C (p.Gly89Arg) c.62G>C n.616G>C n.580G>C | |
7 | g.19117057C>T | CA367015801 | TWIST1 | c.265G>A (p.Gly89Ser) c.62G>A n.616G>A n.580G>A | gnomAD v2 gnomAD v4 |
7 | g.19117057_19117081delinsCGCCCGCGCCGCCGCCGCCGCCACA | CA1692250974 | TWIST1 | c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG (p.Cys81=) c.38_62delinsTGTGGCGGCGGCGGCGGCGCGGGCG n.592_616delinsTGTGGCGGCGGCGGCGGCGCGGGCG n.556_580delinsTGTGGCGGCGGCGGCGGCGCGGGCG | |
7 | g.19117057_19117058insACA | CA836362427 | TWIST1 | c.264_265insTGT (p.Gly88_Gly89insCys) c.61_62insTGT n.615_616insTGT n.579_580insTGT | dbSNP |
7 | g.19117058del | CA2681939559 | TWIST1 | c.264del (p.Gly89AlafsTer?) c.61del n.615del n.579del | gnomAD v4 |
7 | g.19117058G>A | CA155466606 | TWIST1 | c.264C>T (p.Gly88=) c.61C>T n.615C>T n.579C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117058G>C | CA155466607 | TWIST1 | c.264C>G (p.Gly88=) c.61C>G n.615C>G n.579C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117058G= | CA1692250984 | TWIST1 | c.264C= (p.Gly88=) c.61C= n.615C= n.579C= | |
7 | g.19117058G>T | CA454143821 | TWIST1 | c.264C>A (p.Gly88=) c.61C>A n.615C>A n.579C>A | gnomAD v4 |
7 | g.19117064_19117087dup | CA573294071 | TWIST1 | c.241_264dup (p.Gly88_Gly89insCysGlyGlyGlyGlyGlyAlaGly) c.38_61dup n.592_615dup n.556_579dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117064_19117087del | CA4174531 | TWIST1 | c.241_264del (p.Cys81_Gly88del) c.38_61del n.592_615del n.556_579del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117059C>A | CA367015805 | TWIST1 | c.263G>T (p.Gly88Val) c.60G>T n.614G>T n.578G>T | gnomAD v4 |
7 | g.19117059C= | CA1692250990 | TWIST1 | c.263G= (p.Gly88=) c.60G= n.614G= n.578G= | |
7 | g.19117059C>G | CA367015803 | TWIST1 | c.263G>C (p.Gly88Ala) c.60G>C n.614G>C n.578G>C | |
7 | g.19117059C>T | CA367015804 | TWIST1 | c.263G>A (p.Gly88Asp) c.60G>A n.614G>A n.578G>A | gnomAD v4 |
7 | g.19117061del | CA454143826 | TWIST1 | c.263del (p.Gly88AlafsTer?) c.60del n.614del n.578del | gnomAD v4 |
7 | g.19117059_19117060insTG | CA573294072 | TWIST1 | c.262_263insCA (p.Gly88AlafsTer?) c.59_60insCA n.613_614insCA n.577_578insCA | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117059_19117060insTGCTG | CA2681939560 | TWIST1 | c.262_263insCAGCA (p.Gly88AlafsTer?) c.59_60insCAGCA n.613_614insCAGCA n.577_578insCAGCA | gnomAD v4 |
7 | g.19117059_19117060insTGCTGCTG | CA573294073 | TWIST1 | c.262_263insCAGCAGCA (p.Gly88AlafsTer?) c.59_60insCAGCAGCA n.613_614insCAGCAGCA n.577_578insCAGCAGCA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117060C>A | CA367015806 | TWIST1 | c.262G>T (p.Gly88Cys) c.59G>T n.613G>T n.577G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117060C= | CA1692250993 | TWIST1 | c.262G= (p.Gly88=) c.59G= n.613G= n.577G= | |
7 | g.19117060C>G | CA367015807 | TWIST1 | c.262G>C (p.Gly88Arg) c.59G>C n.613G>C n.577G>C | gnomAD v4 |
7 | g.19117060C>T | CA367015808 | TWIST1 | c.262G>A (p.Gly88Ser) c.59G>A n.613G>A n.577G>A | gnomAD v4 |
7 | g.19117061_19117063del | CA2578839881 | TWIST1 | c.260_262del (p.Ala87del) c.57_59del n.611_613del n.575_577del | gnomAD v4 |
7 | g.19117061C>A | CA454143834 | TWIST1 | c.261G>T (p.Ala87=) c.58G>T n.612G>T n.576G>T | gnomAD v4 |
7 | g.19117061C= | CA1692250997 | TWIST1 | c.261G= (p.Ala87=) c.58G= n.612G= n.576G= | |
7 | g.19117061C>G | CA454143829 | TWIST1 | c.261G>C (p.Ala87=) c.58G>C n.612G>C n.576G>C | |
7 | g.19117061C>T | CA454143832 | TWIST1 | c.261G>A (p.Ala87=) c.58G>A n.612G>A n.576G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.19117062_19117065dup | CA2580615857 | TWIST1 | c.258_261dup (p.Gly88ArgfsTer?) c.55_58dup n.609_612dup n.573_576dup | ClinVar dbSNP |
7 | g.19117062G>A | CA367015809 | TWIST1 | c.260C>T (p.Ala87Val) c.57C>T n.611C>T n.575C>T | gnomAD v4 |
7 | g.19117062G>C | CA367015810 | TWIST1 | c.260C>G (p.Ala87Gly) c.57C>G n.611C>G n.575C>G | dbSNP |
7 | g.19117062G= | CA1692251003 | TWIST1 | c.260C= (p.Ala87=) c.57C= n.611C= n.575C= | |
7 | g.19117062G>T | CA367015811 | TWIST1 | c.260C>A (p.Ala87Glu) c.57C>A n.611C>A n.575C>A | gnomAD v4 |
7 | g.19117062_19117068delinsGCGCCGC | CA1692251002 | TWIST1 | c.254_260delinsGCGGCGC (p.Gly85=) c.51_57delinsGCGGCGC n.605_611delinsGCGGCGC n.569_575delinsGCGGCGC | |
7 | g.19117063C>A | CA367015812 | TWIST1 | c.259G>T (p.Ala87Ser) c.56G>T n.610G>T n.574G>T | gnomAD v4 |
7 | g.19117063C= | CA1692251016 | TWIST1 | c.259G= (p.Ala87=) c.56G= n.610G= n.574G= | |
7 | g.19117063C>G | CA367015813 | TWIST1 | c.259G>C (p.Ala87Pro) c.56G>C n.610G>C n.574G>C | |
7 | g.19117063C>T | CA367015814 | TWIST1 | c.259G>A (p.Ala87Thr) c.56G>A n.610G>A n.574G>A | gnomAD v4 |
7 | g.19117063_19117064insCGCCGCCGCCCGCGCC | CA573294074 | TWIST1 | c.259_260insGCGCGGGCGGCGGCGG (p.Ala87GlyfsTer?) c.56_57insGCGCGGGCGGCGGCGG n.610_611insGCGCGGGCGGCGGCGG n.574_575insGCGCGGGCGGCGGCGG | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117063dup | CA2681939561 | TWIST1 | c.259dup (p.Ala87GlyfsTer?) c.56dup n.610dup n.574dup | gnomAD v4 |
7 | g.19117076_19117078dup | CA155466608 | TWIST1 | c.257_259dup (p.Gly86_Ala87insGly) c.54_56dup n.608_610dup n.572_574dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117073_19117078dup | CA573294075 | TWIST1 | c.254_259dup (p.Gly86_Ala87insGlyGly) c.51_56dup n.605_610dup n.569_574dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117070_19117078dup | CA573294077 | TWIST1 | c.251_259dup (p.Gly86_Ala87insGlyGlyGly) c.48_56dup n.602_610dup n.566_574dup | dbSNP gnomAD v2 |
7 | g.19117076_19117078del | CA4174532 | TWIST1 | c.257_259del (p.Gly86del) c.54_56del n.608_610del n.572_574del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117073_19117078del | CA573294076 | TWIST1 | c.254_259del (p.Gly85_Gly86del) c.51_56del n.605_610del n.569_574del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117070_19117078del | CA2681939562 | TWIST1 | c.251_259del (p.Gly84_Gly86del) c.48_56del n.602_610del n.566_574del | gnomAD v4 |
7 | g.19117063_19117064insT | CA917957217 | TWIST1 | c.258_259insA (p.Ala87SerfsTer?) c.55_56insA n.609_610insA n.573_574insA | dbSNP |
7 | g.19117064G>A | CA454143839 | TWIST1 | c.258C>T (p.Gly86=) c.55C>T n.609C>T n.573C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117064G>C | CA454143845 | TWIST1 | c.258C>G (p.Gly86=) c.55C>G n.609C>G n.573C>G | gnomAD v4 |
7 | g.19117064G= | CA1692251019 | TWIST1 | c.258C= (p.Gly86=) c.55C= n.609C= n.573C= | |
7 | g.19117064G>T | CA454143841 | TWIST1 | c.258C>A (p.Gly86=) c.55C>A n.609C>A n.573C>A | gnomAD v4 |
7 | g.19117065C>A | CA367015817 | TWIST1 | c.257G>T (p.Gly86Val) c.54G>T n.608G>T n.572G>T | gnomAD v4 |
7 | g.19117065C= | CA1692251022 | TWIST1 | c.257G= (p.Gly86=) c.54G= n.608G= n.572G= | |
7 | g.19117065C>G | CA367015815 | TWIST1 | c.257G>C (p.Gly86Ala) c.54G>C n.608G>C n.572G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117065C>T | CA367015816 | TWIST1 | c.257G>A (p.Gly86Asp) c.54G>A n.608G>A n.572G>A | gnomAD v4 |
7 | g.19117066del | CA2578839882 | TWIST1 | c.257del (p.Gly86AlafsTer?) c.54del n.608del n.572del | gnomAD v4 |
7 | g.19117066C>A | CA367015818 | TWIST1 | c.256G>T (p.Gly86Cys) c.53G>T n.607G>T n.571G>T | gnomAD v4 |
7 | g.19117066C>G | CA367015819 | TWIST1 | c.256G>C (p.Gly86Arg) c.53G>C n.607G>C n.571G>C | |
7 | g.19117066C>T | CA367015820 | TWIST1 | c.256G>A (p.Gly86Ser) c.53G>A n.607G>A n.571G>A | gnomAD v4 |
7 | g.19117078_19117079insGCCCGCGCCGCCGCCGCC | CA2681939563 | TWIST1 | c.256_257insCGGGCGGCGGCGGCGGCG (p.Gly85_Gly86insAlaGlyGlyGlyGlyGly) c.53_54insCGGGCGGCGGCGGCGGCG n.607_608insCGGGCGGCGGCGGCGGCG n.571_572insCGGGCGGCGGCGGCGGCG | gnomAD v4 |
7 | g.19117067G>A | CA454143850 | TWIST1 | c.255C>T (p.Gly85=) c.52C>T n.606C>T n.570C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117067G>C | CA454143851 | TWIST1 | c.255C>G (p.Gly85=) c.52C>G n.606C>G n.570C>G | |
7 | g.19117067G= | CA1692251025 | TWIST1 | c.255C= (p.Gly85=) c.52C= n.606C= n.570C= | |
7 | g.19117067G>T | CA454143848 | TWIST1 | c.255C>A (p.Gly85=) c.52C>A n.606C>A n.570C>A | gnomAD v4 |
7 | g.19117070_19117084del | CA2681939564 | TWIST1 | c.241_255del (p.Cys81_Gly85del) c.38_52del n.592_606del n.556_570del | gnomAD v4 |
7 | g.19117068C>A | CA367015821 | TWIST1 | c.254G>T (p.Gly85Val) c.51G>T n.605G>T n.569G>T | gnomAD v4 |
7 | g.19117068C>G | CA367015822 | TWIST1 | c.254G>C (p.Gly85Ala) c.51G>C n.605G>C n.569G>C | |
7 | g.19117068C>T | CA367015823 | TWIST1 | c.254G>A (p.Gly85Asp) c.51G>A n.605G>A n.569G>A | gnomAD v4 |
7 | g.19117069C>A | CA367015824 | TWIST1 | c.253G>T (p.Gly85Cys) c.50G>T n.604G>T n.568G>T | gnomAD v4 |
7 | g.19117069C= | CA1692251027 | TWIST1 | c.253G= (p.Gly85=) c.50G= n.604G= n.568G= | |
7 | g.19117069C>G | CA367015825 | TWIST1 | c.253G>C (p.Gly85Arg) c.50G>C n.604G>C n.568G>C | gnomAD v4 |
7 | g.19117069C>T | CA367015826 | TWIST1 | c.253G>A (p.Gly85Ser) c.50G>A n.604G>A n.568G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117070G>A | CA454143855 | TWIST1 | c.252C>T (p.Gly84=) c.49C>T n.603C>T n.567C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117070G>C | CA454143856 | TWIST1 | c.252C>G (p.Gly84=) c.49C>G n.603C>G n.567C>G | gnomAD v4 |
7 | g.19117070G= | CA1692251031 | TWIST1 | c.252C= (p.Gly84=) c.49C= n.603C= n.567C= | |
7 | g.19117070G>T | CA454143857 | TWIST1 | c.252C>A (p.Gly84=) c.49C>A n.603C>A n.567C>A | gnomAD v4 |
7 | g.19117074_19117075insTGCTGCTGCCGC | CA2681939565 | TWIST1 | c.252_253insAGCAGCAGCGGC (p.Gly84_Gly85insSerSerSerGly) c.49_50insAGCAGCAGCGGC n.603_604insAGCAGCAGCGGC n.567_568insAGCAGCAGCGGC | gnomAD v4 |
7 | g.19117071C>A | CA367015827 | TWIST1 | c.251G>T (p.Gly84Val) c.48G>T n.602G>T n.566G>T | gnomAD v4 |
7 | g.19117071C>G | CA367015828 | TWIST1 | c.251G>C (p.Gly84Ala) c.48G>C n.602G>C n.566G>C | gnomAD v4 |
7 | g.19117071C>T | CA367015829 | TWIST1 | c.251G>A (p.Gly84Asp) c.48G>A n.602G>A n.566G>A | gnomAD v4 |
7 | g.19117072_19117080del | CA2681939566 | TWIST1 | c.243_251del (p.Gly82_Gly84del) c.40_48del n.594_602del n.558_566del | gnomAD v4 |
7 | g.19117072C>A | CA367015832 | TWIST1 | c.250G>T (p.Gly84Cys) c.47G>T n.601G>T n.565G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117072C= | CA1692251033 | TWIST1 | c.250G= (p.Gly84=) c.47G= n.601G= n.565G= | |
7 | g.19117072C>G | CA367015831 | TWIST1 | c.250G>C (p.Gly84Arg) c.47G>C n.601G>C n.565G>C | |
7 | g.19117072C>T | CA367015830 | TWIST1 | c.250G>A (p.Gly84Ser) c.47G>A n.601G>A n.565G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117075_19117076insCGCGCC | CA2774611316 | TWIST1 | c.250_251insCGGGCG (p.Gly83_Gly84insAlaGly) c.47_48insCGGGCG n.601_602insCGGGCG n.565_566insCGGGCG | |
7 | g.19117073G>A | CA454143859 | TWIST1 | c.249C>T (p.Gly83=) c.46C>T n.600C>T n.564C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117073G>C | CA454143860 | TWIST1 | c.249C>G (p.Gly83=) c.46C>G n.600C>G n.564C>G | dbSNP gnomAD v4 |
7 | g.19117073G= | CA1692251037 | TWIST1 | c.249C= (p.Gly83=) c.46C= n.600C= n.564C= | |
7 | g.19117073G>T | CA454143861 | TWIST1 | c.249C>A (p.Gly83=) c.46C>A n.600C>A n.564C>A | gnomAD v4 |
7 | g.19117074C>A | CA367015835 | TWIST1 | c.248G>T (p.Gly83Val) c.45G>T n.599G>T n.563G>T | gnomAD v4 |
7 | g.19117074C>G | CA367015833 | TWIST1 | c.248G>C (p.Gly83Ala) c.45G>C n.599G>C n.563G>C | gnomAD v4 |
7 | g.19117074C>T | CA367015834 | TWIST1 | c.248G>A (p.Gly83Asp) c.45G>A n.599G>A n.563G>A | gnomAD v4 |
7 | g.19117075C>A | CA367015836 | TWIST1 | c.247G>T (p.Gly83Cys) c.44G>T n.598G>T n.562G>T | gnomAD v4 |
7 | g.19117075C= | CA1692251042 | TWIST1 | c.247G= (p.Gly83=) c.44G= n.598G= n.562G= | |
7 | g.19117075C>G | CA367015837 | TWIST1 | c.247G>C (p.Gly83Arg) c.44G>C n.598G>C n.562G>C | |
7 | g.19117075C>T | CA4174533 | TWIST1 | c.247G>A (p.Gly83Ser) c.44G>A n.598G>A n.562G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117075_19117076insCGC | CA2681939568 | TWIST1 | c.247_248insCGG (p.Gly82_Gly83insAla) c.44_45insCGG n.598_599insCGG n.562_563insCGG | gnomAD v4 |
7 | g.19117078_19117079insCGCGCC | CA2681939569 | TWIST1 | c.247_248insCGGGCG (p.Gly82_Gly83insAlaGly) c.44_45insCGGGCG n.598_599insCGGGCG n.562_563insCGGGCG | gnomAD v4 |
7 | g.19117076del | CA2681939572 | TWIST1 | c.246del (p.Gly83AlafsTer?) c.43del n.597del n.561del | gnomAD v4 |
7 | g.19117076G>A | CA155466609 | TWIST1 | c.246C>T (p.Gly82=) c.43C>T n.597C>T n.561C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117076G>C | CA454143864 | TWIST1 | c.246C>G (p.Gly82=) c.43C>G n.597C>G n.561C>G | gnomAD v4 |
7 | g.19117076G= | CA1692251045 | TWIST1 | c.246C= (p.Gly82=) c.43C= n.597C= n.561C= | |
7 | g.19117076G>T | CA454143865 | TWIST1 | c.246C>A (p.Gly82=) c.43C>A n.597C>A n.561C>A | gnomAD v4 |
7 | g.19117077_19117078insTGCTGC | CA2681939571 | TWIST1 | c.246_247insAGCAGC (p.Gly82_Gly83insSerSer) c.43_44insAGCAGC n.597_598insAGCAGC n.561_562insAGCAGC | gnomAD v4 |
7 | g.19117078_19117079insGCAGCC | CA2681939570 | TWIST1 | c.246_247insTGCGGC (p.Gly82_Gly83insCysGly) c.43_44insTGCGGC n.597_598insTGCGGC n.561_562insTGCGGC | gnomAD v4 |
7 | g.19117079_19117084dup | CA2578839883 | TWIST1 | c.241_246dup (p.Gly82_Gly83insCysGly) c.38_43dup n.592_597dup n.556_561dup | |
7 | g.19117077C>A | CA367015838 | TWIST1 | c.245G>T (p.Gly82Val) c.42G>T n.596G>T n.560G>T | gnomAD v4 |
7 | g.19117077C>G | CA367015839 | TWIST1 | c.245G>C (p.Gly82Ala) c.42G>C n.596G>C n.560G>C | |
7 | g.19117077C>T | CA367015840 | TWIST1 | c.245G>A (p.Gly82Asp) c.42G>A n.596G>A n.560G>A | gnomAD v4 |
7 | g.19117078del | CA2681939574 | TWIST1 | c.245del (p.Gly82AlafsTer?) c.42del n.596del n.560del | gnomAD v4 |
7 | g.19117078C>A | CA367015841 | TWIST1 | c.244G>T (p.Gly82Cys) c.41G>T n.595G>T n.559G>T | gnomAD v4 |
7 | g.19117078C>G | CA367015842 | TWIST1 | c.244G>C (p.Gly82Arg) c.41G>C n.595G>C n.559G>C | |
7 | g.19117078C>T | CA367015843 | TWIST1 | c.244G>A (p.Gly82Ser) c.41G>A n.595G>A n.559G>A | gnomAD v4 |
7 | g.19117078_19117079insCGC | CA2681939575 | TWIST1 | c.244_245insCGG (p.Cys81_Gly82insAla) c.41_42insCGG n.595_596insCGG n.559_560insCGG | gnomAD v4 |
7 | g.19117078_19117081delinsCACA | CA1692251049 | TWIST1 | c.241_244delinsTGTG (p.Cys81=) c.38_41delinsTGTG n.592_595delinsTGTG n.556_559delinsTGTG | |
7 | g.19117079A= | CA1692251053 | TWIST1 | c.243T= (p.Cys81=) c.40T= n.594T= n.558T= | |
7 | g.19117079A>C | CA367015844 | TWIST1 | c.243T>G (p.Cys81Trp) c.40T>G n.594T>G n.558T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117079A>G | CA454143869 | TWIST1 | c.243T>C (p.Cys81=) c.40T>C n.594T>C n.558T>C | gnomAD v3 gnomAD v4 |
7 | g.19117079A>T | CA367015845 | TWIST1 | c.243T>A (p.Cys81Ter) c.40T>A n.594T>A n.558T>A | gnomAD v4 |
7 | g.19117079_19117081del | CA573294078 | TWIST1 | c.241_243del (p.Cys81del) c.38_40del n.592_594del n.556_558del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117079_19117082del | CA2681939576 | TWIST1 | c.240_243del (p.Cys81AlafsTer?) c.37_40del n.591_594del n.555_558del | gnomAD v4 |
7 | g.19117080C>A | CA367015848 | TWIST1 | c.242G>T (p.Cys81Phe) c.39G>T n.593G>T n.557G>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117080C= | CA1692251056 | TWIST1 | c.242G= (p.Cys81=) c.39G= n.593G= n.557G= | |
7 | g.19117080C>G | CA367015846 | TWIST1 | c.242G>C (p.Cys81Ser) c.39G>C n.593G>C n.557G>C | gnomAD v4 COSMIC |
7 | g.19117080C>T | CA367015847 | TWIST1 | c.242G>A (p.Cys81Tyr) c.39G>A n.593G>A n.557G>A | gnomAD v4 |
7 | g.19117081A>C | CA367015849 | TWIST1 | c.241T>G (p.Cys81Gly) c.38T>G n.592T>G n.556T>G | gnomAD v3 gnomAD v4 |
7 | g.19117081A>G | CA367015850 | TWIST1 | c.241T>C (p.Cys81Arg) c.38T>C n.592T>C n.556T>C | gnomAD v4 |
7 | g.19117081A>T | CA367015851 | TWIST1 | c.241T>A (p.Cys81Ser) c.38T>A n.592T>A n.556T>A | gnomAD v4 |
7 | g.19117082G>A | CA454143873 | TWIST1 | c.240C>T (p.Gly80=) c.37C>T n.591C>T n.555C>T | gnomAD v4 |
7 | g.19117082G>C | CA454143872 | TWIST1 | c.240C>G (p.Gly80=) c.37C>G n.591C>G n.555C>G | dbSNP gnomAD v4 |
7 | g.19117082G= | CA1692251059 | TWIST1 | c.240C= (p.Gly80=) c.37C= n.591C= n.555C= | |
7 | g.19117082G>T | CA454143870 | TWIST1 | c.240C>A (p.Gly80=) c.37C>A n.591C>A n.555C>A | gnomAD v4 |
7 | g.19117083C>A | CA367015852 | TWIST1 | c.239G>T (p.Gly80Val) c.36G>T n.590G>T n.554G>T | gnomAD v4 |
7 | g.19117083C= | CA1692251061 | TWIST1 | c.239G= (p.Gly80=) c.36G= n.590G= n.554G= | |
7 | g.19117083C>G | CA367015853 | TWIST1 | c.239G>C (p.Gly80Ala) c.36G>C n.590G>C n.554G>C | gnomAD v4 |
7 | g.19117083C>T | CA367015854 | TWIST1 | c.239G>A (p.Gly80Asp) c.36G>A n.590G>A n.554G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117085del | CA2681939578 | TWIST1 | c.239del (p.Gly80AlafsTer?) c.36del n.590del n.554del | gnomAD v4 |
7 | g.19117084C>A | CA367015855 | TWIST1 | c.238G>T (p.Gly80Cys) c.35G>T n.589G>T n.553G>T | gnomAD v4 |
7 | g.19117084C>G | CA367015856 | TWIST1 | c.238G>C (p.Gly80Arg) c.35G>C n.589G>C n.553G>C | gnomAD v4 |
7 | g.19117084C>T | CA367015857 | TWIST1 | c.238G>A (p.Gly80Ser) c.35G>A n.589G>A n.553G>A | gnomAD v4 |
7 | g.19117085C>A | CA454143878 | TWIST1 | c.237G>T (p.Ala79=) c.34G>T n.588G>T n.552G>T | gnomAD v4 |
7 | g.19117085C>G | CA454143879 | TWIST1 | c.237G>C (p.Ala79=) c.34G>C n.588G>C n.552G>C | gnomAD v4 |
7 | g.19117085C>T | CA454143880 | TWIST1 | c.237G>A (p.Ala79=) c.34G>A n.588G>A n.552G>A | gnomAD v4 |
7 | g.19117086G>A | CA367015858 | TWIST1 | c.236C>T (p.Ala79Val) c.33C>T n.587C>T n.551C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117086G>C | CA367015859 | TWIST1 | c.236C>G (p.Ala79Gly) c.33C>G n.587C>G n.551C>G | gnomAD v4 |
7 | g.19117086G= | CA1692251066 | TWIST1 | c.236C= (p.Ala79=) c.33C= n.587C= n.551C= | |
7 | g.19117086G>T | CA367015860 | TWIST1 | c.236C>A (p.Ala79Glu) c.33C>A n.587C>A n.551C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117087del | CA2681939580 | TWIST1 | c.235del (p.Ala79ArgfsTer?) c.32del n.586del n.550del | gnomAD v4 |
7 | g.19117087C>A | CA367015862 | TWIST1 | c.235G>T (p.Ala79Ser) c.32G>T n.586G>T n.550G>T | gnomAD v4 |
7 | g.19117087C>G | CA367015863 | TWIST1 | c.235G>C (p.Ala79Pro) c.32G>C n.586G>C n.550G>C | |
7 | g.19117087C>T | CA367015861 | TWIST1 | c.235G>A (p.Ala79Thr) c.32G>A n.586G>A n.550G>A | gnomAD v4 |
7 | g.19117088A>C | CA454143883 | TWIST1 | c.234T>G (p.Ser78=) c.31T>G n.585T>G n.549T>G | |
7 | g.19117088A>G | CA454143887 | TWIST1 | c.234T>C (p.Ser78=) c.31T>C n.585T>C n.549T>C | gnomAD v4 |
7 | g.19117088A>T | CA454143885 | TWIST1 | c.234T>A (p.Ser78=) c.31T>A n.585T>A n.549T>A | |
7 | g.19117089G>A | CA367015864 | TWIST1 | c.233C>T (p.Ser78Phe) c.30C>T n.584C>T n.548C>T | gnomAD v4 |
7 | g.19117089G>C | CA367015866 | TWIST1 | c.233C>G (p.Ser78Cys) c.30C>G n.584C>G n.548C>G | dbSNP gnomAD v4 |
7 | g.19117089G= | CA1692251071 | TWIST1 | c.233C= (p.Ser78=) c.30C= n.584C= n.548C= | |
7 | g.19117089G>T | CA367015865 | TWIST1 | c.233C>A (p.Ser78Tyr) c.30C>A n.584C>A n.548C>A | gnomAD v4 |
7 | g.19117090A>C | CA367015867 | TWIST1 | c.232T>G (p.Ser78Ala) c.29T>G n.583T>G n.547T>G | |
7 | g.19117090A>G | CA367015868 | TWIST1 | c.232T>C (p.Ser78Pro) c.29T>C n.583T>C n.547T>C | gnomAD v4 |
7 | g.19117090A>T | CA367015869 | TWIST1 | c.232T>A (p.Ser78Thr) c.29T>A n.583T>A n.547T>A | gnomAD v4 |
7 | g.19117090_19117092delinsGC | CA2695207489 | TWIST1 | c.230_232delinsGC (p.Lys77SerfsTer?) c.27_29delinsGC n.581_583delinsGC n.545_547delinsGC | |
7 | g.19117091C>A | CA367015870 | TWIST1 | c.231G>T (p.Lys77Asn) c.28G>T n.582G>T n.546G>T | dbSNP gnomAD v4 |
7 | g.19117091C= | CA1692251075 | TWIST1 | c.231G= (p.Lys77=) c.28G= n.582G= n.546G= | |
7 | g.19117091C>G | CA367015871 | TWIST1 | c.231G>C (p.Lys77Asn) c.28G>C n.582G>C n.546G>C | |
7 | g.19117091C>T | CA454143891 | TWIST1 | c.231G>A (p.Lys77=) c.28G>A n.582G>A n.546G>A | gnomAD v4 |
7 | g.19117092T>A | CA367015872 | TWIST1 | c.230A>T (p.Lys77Met) c.27A>T n.581A>T n.545A>T | |
7 | g.19117092T>C | CA155466610 | TWIST1 | c.230A>G (p.Lys77Arg) c.27A>G n.581A>G n.545A>G | dbSNP gnomAD v4 |
7 | g.19117092T>G | CA367015873 | TWIST1 | c.230A>C (p.Lys77Thr) c.27A>C n.581A>C n.545A>C | |
7 | g.19117092T= | CA1692251077 | TWIST1 | c.230A= (p.Lys77=) c.27A= n.581A= n.545A= | |
7 | g.19117093del | CA2695207490 | TWIST1 | c.230del (p.Lys77SerfsTer?) c.27del n.581del n.545del | |
7 | g.19117093T>A | CA367015874 | TWIST1 | c.229A>T (p.Lys77Ter) c.26A>T n.580A>T n.544A>T | |
7 | g.19117093T>C | CA367015875 | TWIST1 | c.229A>G (p.Lys77Glu) c.26A>G n.580A>G n.544A>G | gnomAD v4 |
7 | g.19117093T>G | CA367015876 | TWIST1 | c.229A>C (p.Lys77Gln) c.26A>C n.580A>C n.544A>C | |
7 | g.19117094C>A | CA367015877 | TWIST1 | c.228G>T (p.Lys76Asn) c.25G>T n.579G>T n.543G>T | gnomAD v4 |
7 | g.19117094C= | CA1692251080 | TWIST1 | c.228G= (p.Lys76=) c.25G= n.579G= n.543G= | |
7 | g.19117094C>G | CA367015878 | TWIST1 | c.228G>C (p.Lys76Asn) c.25G>C n.579G>C n.543G>C | gnomAD v4 |
7 | g.19117094C>T | CA155466611 | TWIST1 | c.228G>A (p.Lys76=) c.25G>A n.579G>A n.543G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117095T>A | CA367015879 | TWIST1 | c.227A>T (p.Lys76Met) c.24A>T n.578A>T n.542A>T | gnomAD v4 |
7 | g.19117095T>C | CA367015881 | TWIST1 | c.227A>G (p.Lys76Arg) c.24A>G n.578A>G n.542A>G | gnomAD v4 |
7 | g.19117095T>G | CA367015880 | TWIST1 | c.227A>C (p.Lys76Thr) c.24A>C n.578A>C n.542A>C | |
7 | g.19117096T>A | CA367015882 | TWIST1 | c.226A>T (p.Lys76Ter) c.23A>T n.577A>T n.541A>T | |
7 | g.19117096T>C | CA367015883 | TWIST1 | c.226A>G (p.Lys76Glu) c.23A>G n.577A>G n.541A>G | gnomAD v4 |
7 | g.19117096T>G | CA367015884 | TWIST1 | c.226A>C (p.Lys76Gln) c.23A>C n.577A>C n.541A>C | |
7 | g.19117097G>A | CA454143898 | TWIST1 | c.225C>T (p.Gly75=) c.22C>T n.576C>T n.540C>T | gnomAD v4 |
7 | g.19117097G>C | CA454143900 | TWIST1 | c.225C>G (p.Gly75=) c.22C>G n.576C>G n.540C>G | gnomAD v4 |
7 | g.19117097G>T | CA454143903 | TWIST1 | c.225C>A (p.Gly75=) c.22C>A n.576C>A n.540C>A | gnomAD v4 |
7 | g.19117098C>A | CA367015885 | TWIST1 | c.224G>T (p.Gly75Val) c.21G>T n.575G>T n.539G>T | gnomAD v4 |
7 | g.19117098C>G | CA367015886 | TWIST1 | c.224G>C (p.Gly75Ala) c.21G>C n.575G>C n.539G>C | |
7 | g.19117098C>T | CA367015887 | TWIST1 | c.224G>A (p.Gly75Asp) c.21G>A n.575G>A n.539G>A | gnomAD v4 |
7 | g.19117099C>A | CA367015888 | TWIST1 | c.223G>T (p.Gly75Cys) c.20G>T n.574G>T n.538G>T | gnomAD v4 |
7 | g.19117099C>G | CA367015889 | TWIST1 | c.223G>C (p.Gly75Arg) c.20G>C n.574G>C n.538G>C | |
7 | g.19117099C>T | CA367015890 | TWIST1 | c.223G>A (p.Gly75Ser) c.20G>A n.574G>A n.538G>A | gnomAD v4 |
7 | g.19117100G>A | CA454143908 | TWIST1 | c.222C>T (p.Arg74=) c.19C>T n.573C>T n.537C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117100G>C | CA454143912 | TWIST1 | c.222C>G (p.Arg74=) c.19C>G n.573C>G n.537C>G | |
7 | g.19117100G= | CA1692251082 | TWIST1 | c.222C= (p.Arg74=) c.19C= n.573C= n.537C= | |
7 | g.19117100G>T | CA454143913 | TWIST1 | c.222C>A (p.Arg74=) c.19C>A n.573C>A n.537C>A | gnomAD v4 |
7 | g.19117101C>A | CA367015893 | TWIST1 | c.221G>T (p.Arg74Leu) c.18G>T n.572G>T n.536G>T | gnomAD v4 |
7 | g.19117101C>G | CA367015892 | TWIST1 | c.221G>C (p.Arg74Pro) c.18G>C n.572G>C n.536G>C | |
7 | g.19117101C>T | CA367015891 | TWIST1 | c.221G>A (p.Arg74His) c.18G>A n.572G>A n.536G>A | gnomAD v4 |
7 | g.19117102del | CA2695207491 | TWIST1 | c.220del (p.Arg74AlafsTer?) c.17del n.571del n.535del | |
7 | g.19117102G>A | CA367015894 | TWIST1 | c.220C>T (p.Arg74Cys) c.17C>T n.571C>T n.535C>T | gnomAD v4 |
7 | g.19117102G>C | CA367015895 | TWIST1 | c.220C>G (p.Arg74Gly) c.17C>G n.571C>G n.535C>G | |
7 | g.19117102G>T | CA367015896 | TWIST1 | c.220C>A (p.Arg74Ser) c.17C>A n.571C>A n.535C>A | gnomAD v4 COSMIC |
7 | g.19117103C>A | CA367015897 | TWIST1 | c.219G>T (p.Lys73Asn) c.16G>T n.570G>T n.534G>T | gnomAD v4 |
7 | g.19117103C= | CA1692251084 | TWIST1 | c.219G= (p.Lys73=) c.16G= n.570G= n.534G= | |
7 | g.19117103C>G | CA367015898 | TWIST1 | c.219G>C (p.Lys73Asn) c.16G>C n.570G>C n.534G>C | |
7 | g.19117103C>T | CA454143916 | TWIST1 | c.219G>A (p.Lys73=) c.16G>A n.570G>A n.534G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117104T>A | CA367015899 | TWIST1 | c.218A>T (p.Lys73Met) c.15A>T n.569A>T n.533A>T | |
7 | g.19117104T>C | CA367015900 | TWIST1 | c.218A>G (p.Lys73Arg) c.15A>G n.569A>G n.533A>G | gnomAD v4 |
7 | g.19117104T>G | CA367015901 | TWIST1 | c.218A>C (p.Lys73Thr) c.15A>C n.569A>C n.533A>C | |
7 | g.19117105del | CA2681939607 | TWIST1 | c.218del (p.Lys73SerfsTer?) c.15del n.569del n.533del | gnomAD v4 |
7 | g.19117105T>A | CA367015902 | TWIST1 | c.217A>T (p.Lys73Ter) c.14A>T n.568A>T n.532A>T | |
7 | g.19117105T>C | CA367015903 | TWIST1 | c.217A>G (p.Lys73Glu) c.14A>G n.568A>G n.532A>G | gnomAD v4 |
7 | g.19117105T>G | CA367015904 | TWIST1 | c.217A>C (p.Lys73Gln) c.14A>C n.568A>C n.532A>C | |
7 | g.19117106G>A | CA454143921 | TWIST1 | c.216C>T (p.Gly72=) c.13C>T n.567C>T n.531C>T | dbSNP gnomAD v4 |
7 | g.19117106G>C | CA454143923 | TWIST1 | c.216C>G (p.Gly72=) c.13C>G n.567C>G n.531C>G | gnomAD v4 |
7 | g.19117106G= | CA1692251087 | TWIST1 | c.216C= (p.Gly72=) c.13C= n.567C= n.531C= | |
7 | g.19117106G>T | CA454143924 | TWIST1 | c.216C>A (p.Gly72=) c.13C>A n.567C>A n.531C>A | gnomAD v4 |
7 | g.19117107C>A | CA367015907 | TWIST1 | c.215G>T (p.Gly72Val) c.12G>T n.566G>T n.530G>T | dbSNP gnomAD v4 |
7 | g.19117107C= | CA1692251090 | TWIST1 | c.215G= (p.Gly72=) c.12G= n.566G= n.530G= | |
7 | g.19117107C>G | CA367015906 | TWIST1 | c.215G>C (p.Gly72Ala) c.12G>C n.566G>C n.530G>C | |
7 | g.19117107C>T | CA367015905 | TWIST1 | c.215G>A (p.Gly72Asp) c.12G>A n.566G>A n.530G>A | dbSNP gnomAD v4 |
7 | g.19117109dup | CA2774611324 | TWIST1 | c.215dup (p.Lys73GlnfsTer?) c.12dup n.566dup n.530dup | |
7 | g.19117109del | CA2681939612 | TWIST1 | c.215del (p.Gly72AlafsTer?) c.12del n.566del n.530del | gnomAD v4 |
7 | g.19117108C>A | CA367015908 | TWIST1 | c.214G>T (p.Gly72Cys) c.11G>T n.565G>T n.529G>T | gnomAD v4 |
7 | g.19117108C= | CA1692251091 | TWIST1 | c.214G= (p.Gly72=) c.11G= n.565G= n.529G= | |
7 | g.19117108C>G | CA367015909 | TWIST1 | c.214G>C (p.Gly72Arg) c.11G>C n.565G>C n.529G>C | gnomAD v4 |
7 | g.19117108C>T | CA367015910 | TWIST1 | c.214G>A (p.Gly72Ser) c.11G>A n.565G>A n.529G>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117108_19117109insG | CA367015911 | TWIST1 | c.213_214insC (p.Gly72ArgfsTer?) c.10_11insC n.564_565insC n.528_529insC | dbSNP |
7 | g.19117109C>A | CA367015912 | TWIST1 | c.213G>T (p.Gln71His) c.10G>T n.564G>T n.528G>T | gnomAD v4 |
7 | g.19117109C= | CA1692251093 | TWIST1 | c.213G= (p.Gln71=) c.10G= n.564G= n.528G= | |
7 | g.19117109C>G | CA367015913 | TWIST1 | c.213G>C (p.Gln71His) c.10G>C n.564G>C n.528G>C | |
7 | g.19117109C>T | CA454143929 | TWIST1 | c.213G>A (p.Gln71=) c.10G>A n.564G>A n.528G>A | dbSNP gnomAD v4 |
7 | g.19117110T>A | CA367015914 | TWIST1 | c.212A>T (p.Gln71Leu) c.9A>T n.563A>T n.527A>T | gnomAD v4 |
7 | g.19117110T>C | CA367015915 | TWIST1 | c.212A>G (p.Gln71Arg) c.9A>G n.563A>G n.527A>G | gnomAD v4 |
7 | g.19117110T>G | CA367015916 | TWIST1 | c.212A>C (p.Gln71Pro) c.9A>C n.563A>C n.527A>C | |
7 | g.19117111G>A | CA280125 | TWIST1 | c.211C>T (p.Gln71Ter) c.8C>T n.562C>T n.526C>T | ClinVar dbSNP |
7 | g.19117111G>C | CA367015917 | TWIST1 | c.211C>G (p.Gln71Glu) c.8C>G n.562C>G n.526C>G | |
7 | g.19117111G= | CA1692251099 | TWIST1 | c.211C= (p.Gln71=) c.8C= n.562C= n.526C= | |
7 | g.19117111G>T | CA367015918 | TWIST1 | c.211C>A (p.Gln71Lys) c.8C>A n.562C>A n.526C>A | gnomAD v4 |
7 | g.19117113del | CA2681939640 | TWIST1 | c.211del (p.Gln71ArgfsTer?) c.8del n.562del n.526del | ClinVar gnomAD v4 |
7 | g.19117112G>A | CA454143931 | TWIST1 | c.210C>T (p.Ala70=) c.7C>T n.561C>T n.525C>T | ClinVar gnomAD v4 |
7 | g.19117112G>C | CA454143933 | TWIST1 | c.210C>G (p.Ala70=) c.7C>G n.561C>G n.525C>G | gnomAD v4 |
7 | g.19117112G>T | CA454143932 | TWIST1 | c.210C>A (p.Ala70=) c.7C>A n.561C>A n.525C>A | gnomAD v4 |
7 | g.19117113G>A | CA367015921 | TWIST1 | c.209C>T (p.Ala70Val) c.6C>T n.560C>T n.524C>T | gnomAD v4 |
7 | g.19117113G>C | CA367015920 | TWIST1 | c.209C>G (p.Ala70Gly) c.6C>G n.560C>G n.524C>G | gnomAD v4 |
7 | g.19117113G>T | CA367015919 | TWIST1 | c.209C>A (p.Ala70Asp) c.6C>A n.560C>A n.524C>A | gnomAD v4 |
7 | g.19117113_19117114delinsGC | CA1692251101 | TWIST1 | c.208_209delinsGC (p.Ala70=) c.5_6delinsGC n.559_560delinsGC n.523_524delinsGC | |
7 | g.19117114C>A | CA367015922 | TWIST1 | c.208G>T (p.Ala70Ser) c.5G>T n.559G>T n.523G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117114C= | CA1692251105 | TWIST1 | c.208G= (p.Ala70=) c.5G= n.559G= n.523G= | |
7 | g.19117114C>G | CA367015925 | TWIST1 | c.208G>C (p.Ala70Pro) c.5G>C n.559G>C n.523G>C | gnomAD v4 |
7 | g.19117114C>T | CA367015924 | TWIST1 | c.208G>A (p.Ala70Thr) c.5G>A n.559G>A n.523G>A | gnomAD v4 |
7 | g.19117115del | CA367015923 | TWIST1 | c.208del (p.Ala70ProfsTer?) c.5del n.559del n.523del | dbSNP |
7 | g.19117115C>A | CA454143937 | TWIST1 | c.207G>T (p.Pro69=) c.4G>T n.558G>T n.522G>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117115C= | CA1692251108 | TWIST1 | c.207G= (p.Pro69=) c.4G= n.558G= n.522G= | |
7 | g.19117115C>G | CA454143938 | TWIST1 | c.207G>C (p.Pro69=) c.4G>C n.558G>C n.522G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117115C>T | CA4174534 | TWIST1 | c.207G>A (p.Pro69=) c.4G>A n.558G>A n.522G>A | dbSNP ExAC gnomAD v4 |
7 | g.19117116G>A | CA367015927 | TWIST1 | c.206C>T (p.Pro69Leu) c.3C>T n.557C>T n.521C>T | dbSNP gnomAD v4 |
7 | g.19117116G>C | CA367015926 | TWIST1 | c.206C>G (p.Pro69Arg) c.3C>G n.557C>G n.521C>G | gnomAD v4 |
7 | g.19117116G= | CA1692251110 | TWIST1 | c.206C= (p.Pro69=) c.3C= n.557C= n.521C= | |
7 | g.19117116G>T | CA367015928 | TWIST1 | c.206C>A (p.Pro69Gln) c.3C>A n.557C>A n.521C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117118del | CA2681939679 | TWIST1 | c.206del (p.Pro69ArgfsTer?) c.3del n.557del n.521del | gnomAD v4 |
7 | g.19117117G>A | CA367015929 | TWIST1 | c.205C>T (p.Pro69Ser) c.2C>T n.556C>T n.520C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117117G>C | CA367015930 | TWIST1 | c.205C>G (p.Pro69Ala) c.2C>G n.556C>G n.520C>G | gnomAD v4 |
7 | g.19117117G= | CA1692251114 | TWIST1 | c.205C= (p.Pro69=) c.2C= n.556C= n.520C= | |
7 | g.19117117G>T | CA367015931 | TWIST1 | c.205C>A (p.Pro69Thr) c.2C>A n.556C>A n.520C>A | gnomAD v4 |
7 | g.19117118G>A | CA454143943 | TWIST1 | c.204C>T (p.Ser68=) c.1C>T n.555C>T n.519C>T | gnomAD v4 |
7 | g.19117118G>C | CA367015932 | TWIST1 | c.204C>G (p.Ser68Arg) c.1C>G n.555C>G n.519C>G | |
7 | g.19117118G= | CA1692251115 | TWIST1 | c.204C= (p.Ser68=) c.1C= n.555C= n.519C= | |
7 | g.19117118G>T | CA367015933 | TWIST1 | c.204C>A (p.Ser68Arg) c.1C>A n.555C>A n.519C>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.19117119C>A | CA155466612 | TWIST1 | c.203G>T (p.Ser68Ile) n.554G>T n.518G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.19117119C= | CA1692251118 | TWIST1 | c.203G= (p.Ser68=) n.554G= n.518G= | |
7 | g.19117119C>G | CA367015934 | TWIST1 | c.203G>C (p.Ser68Thr) n.554G>C n.518G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.19117119C>T | CA367015935 | TWIST1 | c.203G>A (p.Ser68Asn) n.554G>A n.518G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |