| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.19117042_19117077dup | CA2681939423 | TWIST1 | c.247_282dup (p.Ser94_Ser95insGlyGlyGlyGlyAlaGlyGlyGlyGlyGlySerSer) c.44_79dup n.598_633dup n.562_597dup | gnomAD v4 |
| 7 | g.19117041_19117072del | CA2681939426 | TWIST1 | c.250_281del (p.Gly84GlnfsTer?) c.47_78del n.601_632del n.565_596del | 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.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.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.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.19117057_19117081delinsCGCCCGCGCCGCCGCCGCCGCCACA | CA1692250974 | TWIST1 | c.241_265delinsTGTGGCGGCGGCGGCGGCGCGGGCG (p.Cys81=) c.38_62delinsTGTGGCGGCGGCGGCGGCGCGGGCG n.592_616delinsTGTGGCGGCGGCGGCGGCGCGGGCG n.556_580delinsTGTGGCGGCGGCGGCGGCGCGGGCG | |
| 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.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.19117078_19117079insGCCCGCGCCGCCGCCGCC | CA2681939563 | TWIST1 | c.256_257insCGGGCGGCGGCGGCGGCG (p.Gly85_Gly86insAlaGlyGlyGlyGlyGly) c.53_54insCGGGCGGCGGCGGCGGCG n.607_608insCGGGCGGCGGCGGCGGCG n.571_572insCGGGCGGCGGCGGCGGCG | 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.19117074_19117075insTGCTGCTGCCGC | CA2681939565 | TWIST1 | c.252_253insAGCAGCAGCGGC (p.Gly84_Gly85insSerSerSerGly) c.49_50insAGCAGCAGCGGC n.603_604insAGCAGCAGCGGC n.567_568insAGCAGCAGCGGC | 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 |
| 7 | g.19117120T>A | CA367015936 | TWIST1 | c.202A>T (p.Ser68Cys) n.553A>T n.517A>T | dbSNP gnomAD v4 |
| 7 | g.19117120T>C | CA367015937 | TWIST1 | c.202A>G (p.Ser68Gly) n.553A>G n.517A>G | gnomAD v4 |
| 7 | g.19117120T>G | CA367015938 | TWIST1 | c.202A>C (p.Ser68Arg) n.553A>C n.517A>C | gnomAD v4 |
| 7 | g.19117120T= | CA1692251124 | TWIST1 | c.202A= (p.Ser68=) n.553A= n.517A= | |
| 7 | g.19117121G>A | CA454143949 | TWIST1 | c.201C>T (p.Gly67=) n.552C>T n.516C>T | gnomAD v4 |
| 7 | g.19117121G>C | CA454143948 | TWIST1 | c.201C>G (p.Gly67=) n.552C>G n.516C>G | dbSNP gnomAD v4 |
| 7 | g.19117121G= | CA1692251127 | TWIST1 | c.201C= (p.Gly67=) n.552C= n.516C= | |
| 7 | g.19117121G>T | CA454143947 | TWIST1 | c.201C>A (p.Gly67=) n.552C>A n.516C>A | ClinVar gnomAD v4 |
| 7 | g.19117122C>A | CA367015940 | TWIST1 | c.200G>T (p.Gly67Val) n.551G>T n.515G>T | gnomAD v4 |
| 7 | g.19117122C= | CA1692251130 | TWIST1 | c.200G= (p.Gly67=) n.551G= n.515G= | |
| 7 | g.19117122C>G | CA155466613 | TWIST1 | c.200G>C (p.Gly67Ala) n.551G>C n.515G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117122C>T | CA367015939 | TWIST1 | c.200G>A (p.Gly67Asp) n.551G>A n.515G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117124del | CA2695207493 | TWIST1 | c.200del (p.Gly67AlafsTer?) n.551del n.515del | |
| 7 | g.19117122_19117132dup | CA2695207492 | TWIST1 | c.190_200dup (p.Ser68ThrfsTer?) n.541_551dup n.505_515dup | |
| 7 | g.19117123C>A | CA367015941 | TWIST1 | c.199G>T (p.Gly67Cys) n.550G>T n.514G>T | gnomAD v4 |
| 7 | g.19117123C>G | CA367015942 | TWIST1 | c.199G>C (p.Gly67Arg) n.550G>C n.514G>C | gnomAD v4 |
| 7 | g.19117123C>T | CA367015943 | TWIST1 | c.199G>A (p.Gly67Ser) n.550G>A n.514G>A | gnomAD v4 |
| 7 | g.19117124C>A | CA454143953 | TWIST1 | c.198G>T (p.Pro66=) n.549G>T n.513G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117124C= | CA1692251134 | TWIST1 | c.198G= (p.Pro66=) n.549G= n.513G= | |
| 7 | g.19117124C>G | CA454143954 | TWIST1 | c.198G>C (p.Pro66=) n.549G>C n.513G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117124C>T | CA454143955 | TWIST1 | c.198G>A (p.Pro66=) n.549G>A n.513G>A | dbSNP gnomAD v4 |
| 7 | g.19117124_19117125delinsCG | CA1692251136 | TWIST1 | c.197_198delinsCG (p.Pro66=) n.548_549delinsCG n.512_513delinsCG | |
| 7 | g.19117125_19117127del | CA2681939681 | TWIST1 | c.196_198del (p.Pro66del) n.547_549del n.511_513del | gnomAD v4 |
| 7 | g.19117125G>A | CA367015944 | TWIST1 | c.197C>T (p.Pro66Leu) n.548C>T n.512C>T | gnomAD v4 |
| 7 | g.19117125G>C | CA367015945 | TWIST1 | c.197C>G (p.Pro66Arg) n.548C>G n.512C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117125G= | CA1692251139 | TWIST1 | c.197C= (p.Pro66=) n.548C= n.512C= | |
| 7 | g.19117125G>T | CA367015946 | TWIST1 | c.197C>A (p.Pro66Gln) n.548C>A n.512C>A | gnomAD v4 |
| 7 | g.19117126del | CA915944886 | TWIST1 | c.197del (p.Pro66ArgfsTer?) n.548del n.512del | ClinVar dbSNP |
| 7 | g.19117126G>A | CA367015947 | TWIST1 | c.196C>T (p.Pro66Ser) n.547C>T n.511C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117126G>C | CA367015948 | TWIST1 | c.196C>G (p.Pro66Ala) n.547C>G n.511C>G | COSMIC |
| 7 | g.19117126G= | CA1692251142 | TWIST1 | c.196C= (p.Pro66=) n.547C= n.511C= | |
| 7 | g.19117126G>T | CA155466614 | TWIST1 | c.196C>A (p.Pro66Thr) n.547C>A n.511C>A | dbSNP gnomAD v4 |
| 7 | g.19117127C>A | CA367015949 | TWIST1 | c.195G>T (p.Glu65Asp) n.546G>T n.510G>T | gnomAD v4 |
| 7 | g.19117127C= | CA1692251146 | TWIST1 | c.195G= (p.Glu65=) n.546G= n.510G= | |
| 7 | g.19117127C>G | CA367015950 | TWIST1 | c.195G>C (p.Glu65Asp) n.546G>C n.510G>C | gnomAD v4 |
| 7 | g.19117127C>T | CA454143957 | TWIST1 | c.195G>A (p.Glu65=) n.546G>A n.510G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117128T>A | CA367015953 | TWIST1 | c.194A>T (p.Glu65Val) n.545A>T n.509A>T | gnomAD v4 |
| 7 | g.19117128T>C | CA367015952 | TWIST1 | c.194A>G (p.Glu65Gly) n.545A>G n.509A>G | gnomAD v4 |
| 7 | g.19117128T>G | CA367015951 | TWIST1 | c.194A>C (p.Glu65Ala) n.545A>C n.509A>C | |
| 7 | g.19117129C>A | CA367015954 | TWIST1 | c.193G>T (p.Glu65Ter) n.544G>T n.508G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117129C= | CA1692251148 | TWIST1 | c.193G= (p.Glu65=) n.544G= n.508G= | |
| 7 | g.19117129C>G | CA367015955 | TWIST1 | c.193G>C (p.Glu65Gln) n.544G>C n.508G>C | dbSNP gnomAD v4 |
| 7 | g.19117129C>T | CA367015956 | TWIST1 | c.193G>A (p.Glu65Lys) n.544G>A n.508G>A | gnomAD v4 |
| 7 | g.19117129_19117130insAG | CA2681939682 | TWIST1 | c.192_193insCT (p.Glu65LeufsTer?) n.543_544insCT n.507_508insCT | gnomAD v4 |
| 7 | g.19117130G>A | CA454143960 | TWIST1 | c.192C>T (p.Asp64=) n.543C>T n.507C>T | gnomAD v4 |
| 7 | g.19117130G>C | CA367015957 | TWIST1 | c.192C>G (p.Asp64Glu) n.543C>G n.507C>G | ClinVar gnomAD v4 |
| 7 | g.19117130G>T | CA367015958 | TWIST1 | c.192C>A (p.Asp64Glu) n.543C>A n.507C>A | gnomAD v4 |
| 7 | g.19117131T>A | CA367015959 | TWIST1 | c.191A>T (p.Asp64Val) n.542A>T n.506A>T | gnomAD v4 |
| 7 | g.19117131T>C | CA367015960 | TWIST1 | c.191A>G (p.Asp64Gly) n.542A>G n.506A>G | |
| 7 | g.19117131T>G | CA367015961 | TWIST1 | c.191A>C (p.Asp64Ala) n.542A>C n.506A>C | |
| 7 | g.19117131T= | CA1692251150 | TWIST1 | c.191A= (p.Asp64=) n.542A= n.506A= | |
| 7 | g.19117131_19117132del | CA2681939683 | TWIST1 | c.190_191del (p.Asp64ArgfsTer?) n.541_542del n.505_506del | gnomAD v4 |
| 7 | g.19117132C>A | CA367015962 | TWIST1 | c.190G>T (p.Asp64Tyr) n.541G>T n.505G>T | gnomAD v4 |
| 7 | g.19117132C>G | CA367015963 | TWIST1 | c.190G>C (p.Asp64His) n.541G>C n.505G>C | gnomAD v4 |
| 7 | g.19117132C>T | CA367015964 | TWIST1 | c.190G>A (p.Asp64Asn) n.541G>A n.505G>A | gnomAD v4 |
| 7 | g.19117136_19117138dup | CA155466615 | TWIST1 | c.188_190dup (p.Gly63_Asp64insGly) n.539_541dup n.503_505dup | ClinVar dbSNP |
| 7 | g.19117133G>A | CA454143967 | TWIST1 | c.189C>T (p.Gly63=) n.540C>T n.504C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117133G>C | CA454143968 | TWIST1 | c.189C>G (p.Gly63=) n.540C>G n.504C>G | |
| 7 | g.19117133G= | CA1692251156 | TWIST1 | c.189C= (p.Gly63=) n.540C= n.504C= | |
| 7 | g.19117133G>T | CA454143969 | TWIST1 | c.189C>A (p.Gly63=) n.540C>A n.504C>A | gnomAD v4 |
| 7 | g.19117134C>A | CA367015967 | TWIST1 | c.188G>T (p.Gly63Val) n.539G>T n.503G>T | gnomAD v4 |
| 7 | g.19117134C>G | CA367015966 | TWIST1 | c.188G>C (p.Gly63Ala) n.539G>C n.503G>C | |
| 7 | g.19117134C>T | CA367015965 | TWIST1 | c.188G>A (p.Gly63Asp) n.539G>A n.503G>A | gnomAD v4 |
| 7 | g.19117135C>A | CA367015968 | TWIST1 | c.187G>T (p.Gly63Cys) n.538G>T n.502G>T | gnomAD v4 |
| 7 | g.19117135C= | CA1692251158 | TWIST1 | c.187G= (p.Gly63=) n.538G= n.502G= | |
| 7 | g.19117135C>G | CA367015969 | TWIST1 | c.187G>C (p.Gly63Arg) n.538G>C n.502G>C | |
| 7 | g.19117135C>T | CA367015970 | TWIST1 | c.187G>A (p.Gly63Ser) n.538G>A n.502G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117136G>A | CA454143970 | TWIST1 | c.186C>T (p.Gly62=) n.537C>T n.501C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117136G>C | CA454143971 | TWIST1 | c.186C>G (p.Gly62=) n.537C>G n.501C>G | |
| 7 | g.19117136G= | CA1692251160 | TWIST1 | c.186C= (p.Gly62=) n.537C= n.501C= | |
| 7 | g.19117136G>T | CA454143972 | TWIST1 | c.186C>A (p.Gly62=) n.537C>A n.501C>A | gnomAD v4 |
| 7 | g.19117137C>A | CA367015971 | TWIST1 | c.185G>T (p.Gly62Val) n.536G>T n.500G>T | gnomAD v4 |
| 7 | g.19117137C>G | CA367015972 | TWIST1 | c.185G>C (p.Gly62Ala) n.536G>C n.500G>C | gnomAD v4 |
| 7 | g.19117137C>T | CA367015973 | TWIST1 | c.185G>A (p.Gly62Asp) n.536G>A n.500G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117139_19117150dup | CA2681939684 | TWIST1 | c.174_185dup (p.Gly62_Gly63insGlyValGlyGly) n.525_536dup n.489_500dup | gnomAD v4 |
| 7 | g.19117138C>A | CA367015974 | TWIST1 | c.184G>T (p.Gly62Cys) n.535G>T n.499G>T | gnomAD v4 |
| 7 | g.19117138C>G | CA367015975 | TWIST1 | c.184G>C (p.Gly62Arg) n.535G>C n.499G>C | |
| 7 | g.19117138C>T | CA367015976 | TWIST1 | c.184G>A (p.Gly62Ser) n.535G>A n.499G>A | gnomAD v4 |
| 7 | g.19117139T>A | CA454143974 | TWIST1 | c.183A>T (p.Gly61=) n.534A>T n.498A>T | |
| 7 | g.19117139T>C | CA454143975 | TWIST1 | c.183A>G (p.Gly61=) n.534A>G n.498A>G | gnomAD v4 |
| 7 | g.19117139T>G | CA454143976 | TWIST1 | c.183A>C (p.Gly61=) n.534A>C n.498A>C | |
| 7 | g.19117140C>A | CA367015977 | TWIST1 | c.182G>T (p.Gly61Val) n.533G>T n.497G>T | gnomAD v4 |
| 7 | g.19117140C= | CA1692251162 | TWIST1 | c.182G= (p.Gly61=) n.533G= n.497G= | |
| 7 | g.19117140C>G | CA367015978 | TWIST1 | c.182G>C (p.Gly61Ala) n.533G>C n.497G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117140C>T | CA367015979 | TWIST1 | c.182G>A (p.Gly61Glu) n.533G>A n.497G>A | ClinVar gnomAD v4 |
| 7 | g.19117141C>A | CA367015982 | TWIST1 | c.181G>T (p.Gly61Ter) n.532G>T n.496G>T | gnomAD v4 |
| 7 | g.19117141C>G | CA367015981 | TWIST1 | c.181G>C (p.Gly61Arg) n.532G>C n.496G>C | |
| 7 | g.19117141C>T | CA367015980 | TWIST1 | c.181G>A (p.Gly61Arg) n.532G>A n.496G>A | gnomAD v4 |
| 7 | g.19117142G>A | CA4174535 | TWIST1 | c.180C>T (p.Val60=) n.531C>T n.495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117142G>C | CA454143979 | TWIST1 | c.180C>G (p.Val60=) n.531C>G n.495C>G | |
| 7 | g.19117142G= | CA1692251167 | TWIST1 | c.180C= (p.Val60=) n.531C= n.495C= | |
| 7 | g.19117142G>T | CA155466616 | TWIST1 | c.180C>A (p.Val60=) n.531C>A n.495C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117143A>C | CA367015985 | TWIST1 | c.179T>G (p.Val60Gly) n.530T>G n.494T>G | |
| 7 | g.19117143A>G | CA367015983 | TWIST1 | c.179T>C (p.Val60Ala) n.530T>C n.494T>C | gnomAD v4 |
| 7 | g.19117143A>T | CA367015984 | TWIST1 | c.179T>A (p.Val60Asp) n.530T>A n.494T>A | gnomAD v4 |
| 7 | g.19117144C>A | CA367015986 | TWIST1 | c.178G>T (p.Val60Phe) n.529G>T n.493G>T | gnomAD v4 |
| 7 | g.19117144C>G | CA367015987 | TWIST1 | c.178G>C (p.Val60Leu) n.529G>C n.493G>C | |
| 7 | g.19117144C>T | CA367015988 | TWIST1 | c.178G>A (p.Val60Ile) n.529G>A n.493G>A | gnomAD v4 |
| 7 | g.19117148_19117177del | CA2681939685 | TWIST1 | c.149_178del (p.Ala50_Gly59del) n.500_529del n.464_493del | gnomAD v4 |
| 7 | g.19117145G>A | CA155466617 | TWIST1 | c.177C>T (p.Gly59=) n.528C>T n.492C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117145G>C | CA454143980 | TWIST1 | c.177C>G (p.Gly59=) n.528C>G n.492C>G | |
| 7 | g.19117145G= | CA1692251168 | TWIST1 | c.177C= (p.Gly59=) n.528C= n.492C= | |
| 7 | g.19117145G>T | CA454143982 | TWIST1 | c.177C>A (p.Gly59=) n.528C>A n.492C>A | dbSNP gnomAD v4 |
| 7 | g.19117146C>A | CA367015989 | TWIST1 | c.176G>T (p.Gly59Val) n.527G>T n.491G>T | dbSNP gnomAD v4 |
| 7 | g.19117146C= | CA1692251172 | TWIST1 | c.176G= (p.Gly59=) n.527G= n.491G= | |
| 7 | g.19117146C>G | CA367015990 | TWIST1 | c.176G>C (p.Gly59Ala) n.527G>C n.491G>C | |
| 7 | g.19117146C>T | CA367015991 | TWIST1 | c.176G>A (p.Gly59Asp) n.527G>A n.491G>A | |
| 7 | g.19117150del | CA2681939686 | TWIST1 | c.176del (p.Gly59AlafsTer?) n.527del n.491del | ClinVar gnomAD v4 |
| 7 | g.19117147C>A | CA367015992 | TWIST1 | c.175G>T (p.Gly59Cys) n.526G>T n.490G>T | |
| 7 | g.19117147C>G | CA367015993 | TWIST1 | c.175G>C (p.Gly59Arg) n.526G>C n.490G>C | |
| 7 | g.19117147C>T | CA367015994 | TWIST1 | c.175G>A (p.Gly59Ser) n.526G>A n.490G>A | gnomAD v4 |
| 7 | g.19117148C>A | CA454143985 | TWIST1 | c.174G>T (p.Gly58=) n.525G>T n.489G>T | |
| 7 | g.19117148C>G | CA454143987 | TWIST1 | c.174G>C (p.Gly58=) n.525G>C n.489G>C | |
| 7 | g.19117148C>T | CA454143989 | TWIST1 | c.174G>A (p.Gly58=) n.525G>A n.489G>A | gnomAD v4 |
| 7 | g.19117149C>A | CA367015997 | TWIST1 | c.173G>T (p.Gly58Val) n.524G>T n.488G>T | gnomAD v4 |
| 7 | g.19117149C= | CA1692251175 | TWIST1 | c.173G= (p.Gly58=) n.524G= n.488G= | |
| 7 | g.19117149C>G | CA367015996 | TWIST1 | c.173G>C (p.Gly58Ala) n.524G>C n.488G>C | |
| 7 | g.19117149C>T | CA367015995 | TWIST1 | c.173G>A (p.Gly58Glu) n.524G>A n.488G>A | dbSNP gnomAD v4 |
| 7 | g.19117150C>A | CA367015998 | TWIST1 | c.172G>T (p.Gly58Trp) n.523G>T n.487G>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.19117150C= | CA1692251179 | TWIST1 | c.172G= (p.Gly58=) n.523G= n.487G= | |
| 7 | g.19117150C>G | CA367015999 | TWIST1 | c.172G>C (p.Gly58Arg) n.523G>C n.487G>C | |
| 7 | g.19117150C>T | CA367016000 | TWIST1 | c.172G>A (p.Gly58Arg) n.523G>A n.487G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117150_19117151delinsCA | CA1692251181 | TWIST1 | c.171_172delinsTG (p.Gly57=) n.522_523delinsTG n.486_487delinsTG | |
| 7 | g.19117151del | CA1139659988 | TWIST1 | c.171del (p.Gly59AlafsTer?) n.522del n.486del | ClinVar dbSNP |
| 7 | g.19117151A>C | CA454143998 | TWIST1 | c.171T>G (p.Gly57=) n.522T>G n.486T>G | dbSNP gnomAD v4 |
| 7 | g.19117151A>G | CA454143999 | TWIST1 | c.171T>C (p.Gly57=) n.522T>C n.486T>C | gnomAD v4 |
| 7 | g.19117151A>T | CA454144000 | TWIST1 | c.171T>A (p.Gly57=) n.522T>A n.486T>A | gnomAD v4 |
| 7 | g.19117152C>A | CA367016001 | TWIST1 | c.170G>T (p.Gly57Val) n.521G>T n.485G>T | gnomAD v4 |
| 7 | g.19117152C= | CA1692251186 | TWIST1 | c.170G= (p.Gly57=) n.521G= n.485G= | |
| 7 | g.19117152C>G | CA367016002 | TWIST1 | c.170G>C (p.Gly57Ala) n.521G>C n.485G>C | gnomAD v4 |
| 7 | g.19117152C>T | CA367016003 | TWIST1 | c.170G>A (p.Gly57Asp) n.521G>A n.485G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117158_19117175dup | CA2534583170 | TWIST1 | c.153_170dup (p.Gly57_Gly58insProGlyGlyAlaAlaGly) n.504_521dup n.468_485dup | |
| 7 | g.19117153C>A | CA367016004 | TWIST1 | c.169G>T (p.Gly57Cys) n.520G>T n.484G>T | gnomAD v4 |
| 7 | g.19117153C>G | CA367016005 | TWIST1 | c.169G>C (p.Gly57Arg) n.520G>C n.484G>C | |
| 7 | g.19117153C>T | CA367016006 | TWIST1 | c.169G>A (p.Gly57Ser) n.520G>A n.484G>A | ClinVar |
| 7 | g.19117154C>A | CA454144005 | TWIST1 | c.168G>T (p.Ala56=) n.519G>T n.483G>T | gnomAD v4 |
| 7 | g.19117154C>G | CA454144006 | TWIST1 | c.168G>C (p.Ala56=) n.519G>C n.483G>C | |
| 7 | g.19117154C>T | CA454144007 | TWIST1 | c.168G>A (p.Ala56=) n.519G>A n.483G>A | gnomAD v4 |
| 7 | g.19117155G>A | CA367016007 | TWIST1 | c.167C>T (p.Ala56Val) n.518C>T n.482C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117155G>C | CA367016008 | TWIST1 | c.167C>G (p.Ala56Gly) n.518C>G n.482C>G | |
| 7 | g.19117155G= | CA1692251189 | TWIST1 | c.167C= (p.Ala56=) n.518C= n.482C= | |
| 7 | g.19117155G>T | CA367016009 | TWIST1 | c.167C>A (p.Ala56Glu) n.518C>A n.482C>A | gnomAD v4 |
| 7 | g.19117156C>A | CA367016011 | TWIST1 | c.166G>T (p.Ala56Ser) n.517G>T n.481G>T | gnomAD v4 |
| 7 | g.19117156C= | CA1692251191 | TWIST1 | c.166G= (p.Ala56=) n.517G= n.481G= | |
| 7 | g.19117156C>G | CA367016010 | TWIST1 | c.166G>C (p.Ala56Pro) n.517G>C n.481G>C | |
| 7 | g.19117156C>T | CA155466618 | TWIST1 | c.166G>A (p.Ala56Thr) n.517G>A n.481G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.19117157_19117171dup | CA2713958918 | TWIST1 | c.152_166dup (p.Ala55_Ala56insGlyProGlyGlyAla) n.503_517dup n.467_481dup | dbSNP |
| 7 | g.19117157G>A | CA454144009 | TWIST1 | c.165C>T (p.Ala55=) n.516C>T n.480C>T | |
| 7 | g.19117157G>C | CA454144010 | TWIST1 | c.165C>G (p.Ala55=) n.516C>G n.480C>G | |
| 7 | g.19117157G= | CA1692251193 | TWIST1 | c.165C= (p.Ala55=) n.516C= n.480C= | |
| 7 | g.19117157G>T | CA454144012 | TWIST1 | c.165C>A (p.Ala55=) n.516C>A n.480C>A | dbSNP |
| 7 | g.19117158G>A | CA367016012 | TWIST1 | c.164C>T (p.Ala55Val) n.515C>T n.479C>T | gnomAD v4 |
| 7 | g.19117158G>C | CA367016013 | TWIST1 | c.164C>G (p.Ala55Gly) n.515C>G n.479C>G | dbSNP |
| 7 | g.19117158G= | CA1692251196 | TWIST1 | c.164C= (p.Ala55=) n.515C= n.479C= | |
| 7 | g.19117158G>T | CA155466619 | TWIST1 | c.164C>A (p.Ala55Asp) n.515C>A n.479C>A | dbSNP gnomAD v4 |
| 7 | g.19117159C>A | CA367016014 | TWIST1 | c.163G>T (p.Ala55Ser) n.514G>T n.478G>T | |
| 7 | g.19117159C>G | CA367016015 | TWIST1 | c.163G>C (p.Ala55Pro) n.514G>C n.478G>C | |
| 7 | g.19117159C>T | CA367016016 | TWIST1 | c.163G>A (p.Ala55Thr) n.514G>A n.478G>A | |
| 7 | g.19117160_19117165del | CA2681939687 | TWIST1 | c.158_163del (p.Gly53_Gly54del) n.509_514del n.473_478del | gnomAD v4 |
| 7 | g.19117160T>A | CA454144016 | TWIST1 | c.162A>T (p.Gly54=) n.513A>T n.477A>T | |
| 7 | g.19117160T>C | CA454144017 | TWIST1 | c.162A>G (p.Gly54=) n.513A>G n.477A>G | gnomAD v4 |
| 7 | g.19117160T>G | CA155466620 | TWIST1 | c.162A>C (p.Gly54=) n.513A>C n.477A>C | dbSNP |
| 7 | g.19117160T= | CA1692251197 | TWIST1 | c.162A= (p.Gly54=) n.513A= n.477A= | |
| 7 | g.19117161C>A | CA367016017 | TWIST1 | c.161G>T (p.Gly54Val) n.512G>T n.476G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117161C= | CA1692251199 | TWIST1 | c.161G= (p.Gly54=) n.512G= n.476G= | |
| 7 | g.19117161C>G | CA367016018 | TWIST1 | c.161G>C (p.Gly54Ala) n.512G>C n.476G>C | |
| 7 | g.19117161C>T | CA367016019 | TWIST1 | c.161G>A (p.Gly54Glu) n.512G>A n.476G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117167_19117181del | CA2681939688 | TWIST1 | c.147_161del (p.Ala50_Gly54del) n.498_512del n.462_476del | gnomAD v4 |
| 7 | g.19117162C>A | CA367016020 | TWIST1 | c.160G>T (p.Gly54Ter) n.511G>T n.475G>T | gnomAD v4 |
| 7 | g.19117162C= | CA1692251201 | TWIST1 | c.160G= (p.Gly54=) n.511G= n.475G= | |
| 7 | g.19117162C>G | CA367016021 | TWIST1 | c.160G>C (p.Gly54Arg) n.511G>C n.475G>C | |
| 7 | g.19117162C>T | CA367016022 | TWIST1 | c.160G>A (p.Gly54Arg) n.511G>A n.475G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117163G>A | CA155466621 | TWIST1 | c.159C>T (p.Gly53=) n.510C>T n.474C>T | dbSNP gnomAD v4 |
| 7 | g.19117163G>C | CA454144024 | TWIST1 | c.159C>G (p.Gly53=) n.510C>G n.474C>G | |
| 7 | g.19117163G= | CA1692251203 | TWIST1 | c.159C= (p.Gly53=) n.510C= n.474C= | |
| 7 | g.19117163G>T | CA454144022 | TWIST1 | c.159C>A (p.Gly53=) n.510C>A n.474C>A | gnomAD v4 |
| 7 | g.19117164C>A | CA367016025 | TWIST1 | c.158G>T (p.Gly53Val) n.509G>T n.473G>T | |
| 7 | g.19117164C>G | CA367016023 | TWIST1 | c.158G>C (p.Gly53Ala) n.509G>C n.473G>C | |
| 7 | g.19117164C>T | CA367016024 | TWIST1 | c.158G>A (p.Gly53Asp) n.509G>A n.473G>A | gnomAD v4 |
| 7 | g.19117165C>A | CA367016026 | TWIST1 | c.157G>T (p.Gly53Cys) n.508G>T n.472G>T | gnomAD v4 |
| 7 | g.19117165C>G | CA367016027 | TWIST1 | c.157G>C (p.Gly53Arg) n.508G>C n.472G>C | |
| 7 | g.19117165C>T | CA367016028 | TWIST1 | c.157G>A (p.Gly53Ser) n.508G>A n.472G>A | gnomAD v4 |
| 7 | g.19117166G>A | CA454144029 | TWIST1 | c.156C>T (p.Pro52=) n.507C>T n.471C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.19117166G>C | CA454144030 | TWIST1 | c.156C>G (p.Pro52=) n.507C>G n.471C>G | |
| 7 | g.19117166G= | CA1692251206 | TWIST1 | c.156C= (p.Pro52=) n.507C= n.471C= | |
| 7 | g.19117166G>T | CA454144032 | TWIST1 | c.156C>A (p.Pro52=) n.507C>A n.471C>A | gnomAD v4 |
| 7 | g.19117168del | CA2695207494 | TWIST1 | c.156del (p.Gly53AlafsTer?) n.507del n.471del | |
| 7 | g.19117167G>A | CA367016029 | TWIST1 | c.155C>T (p.Pro52Leu) n.506C>T n.470C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117167G>C | CA367016030 | TWIST1 | c.155C>G (p.Pro52Arg) n.506C>G n.470C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117167G= | CA1692251210 | TWIST1 | c.155C= (p.Pro52=) n.506C= n.470C= | |
| 7 | g.19117167G>T | CA367016031 | TWIST1 | c.155C>A (p.Pro52His) n.506C>A n.470C>A | |
| 7 | g.19117168G>A | CA367016032 | TWIST1 | c.154C>T (p.Pro52Ser) n.505C>T n.469C>T | gnomAD v4 |
| 7 | g.19117168G>C | CA367016033 | TWIST1 | c.154C>G (p.Pro52Ala) n.505C>G n.469C>G | |
| 7 | g.19117168G>T | CA367016034 | TWIST1 | c.154C>A (p.Pro52Thr) n.505C>A n.469C>A | gnomAD v4 |
| 7 | g.19117169C>A | CA454144039 | TWIST1 | c.153G>T (p.Gly51=) n.504G>T n.468G>T | gnomAD v4 |
| 7 | g.19117169C>G | CA454144041 | TWIST1 | c.153G>C (p.Gly51=) n.504G>C n.468G>C | gnomAD v4 |
| 7 | g.19117169C>T | CA454144043 | TWIST1 | c.153G>A (p.Gly51=) n.504G>A n.468G>A | gnomAD v4 |
| 7 | g.19117172del | CA2695207495 | TWIST1 | c.153del (p.Gly53AlafsTer?) n.504del n.468del | |
| 7 | g.19117169_19117180del | CA2774611354 | TWIST1 | c.142_153del (p.Gly48_Gly51del) n.493_504del n.457_468del | |
| 7 | g.19117169_19117181delinsCCCCGCGCCGCCG | CA1692251212 | TWIST1 | c.141_153delinsCGGCGGCGCGGGG (p.Gly47=) n.492_504delinsCGGCGGCGCGGGG n.456_468delinsCGGCGGCGCGGGG | |
| 7 | g.19117170C>A | CA367016035 | TWIST1 | c.152G>T (p.Gly51Val) n.503G>T n.467G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117170C= | CA1692251218 | TWIST1 | c.152G= (p.Gly51=) n.503G= n.467G= | |
| 7 | g.19117170C>G | CA367016036 | TWIST1 | c.152G>C (p.Gly51Ala) n.503G>C n.467G>C | gnomAD v4 |
| 7 | g.19117170C>T | CA367016037 | TWIST1 | c.152G>A (p.Gly51Glu) n.503G>A n.467G>A | ClinVar dbSNP |
| 7 | g.19117177_19117188dup | CA836362819 | TWIST1 | c.141_152dup (p.Gly51_Pro52insGlyGlyAlaGly) n.492_503dup n.456_467dup | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117177_19117188del | CA1692251217 | TWIST1 | c.141_152del (p.Gly48_Gly51del) n.492_503del n.456_467del | dbSNP gnomAD v4 |
| 7 | g.19117171C>A | CA367016039 | TWIST1 | c.151G>T (p.Gly51Trp) n.502G>T n.466G>T | gnomAD v4 |
| 7 | g.19117171C= | CA1692251221 | TWIST1 | c.151G= (p.Gly51=) n.502G= n.466G= | |
| 7 | g.19117171C>G | CA367016040 | TWIST1 | c.151G>C (p.Gly51Arg) n.502G>C n.466G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117171C>T | CA367016038 | TWIST1 | c.151G>A (p.Gly51Arg) n.502G>A n.466G>A | gnomAD v4 |
| 7 | g.19117172C>A | CA454144046 | TWIST1 | c.150G>T (p.Ala50=) n.501G>T n.465G>T | gnomAD v4 |
| 7 | g.19117172C= | CA1692251223 | TWIST1 | c.150G= (p.Ala50=) n.501G= n.465G= | |
| 7 | g.19117172C>G | CA454144049 | TWIST1 | c.150G>C (p.Ala50=) n.501G>C n.465G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.19117172C>T | CA454144051 | TWIST1 | c.150G>A (p.Ala50=) n.501G>A n.465G>A | gnomAD v4 |