| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.8117792_8126946del | CA2573154518 | ClinVar | ||
| 17 | g.8121781_8121888del | CA2635937286 | HES7 | c.385_492del (p.Gly129_His164del) c.370_477del (p.Gly124_His159del) c.490_597del (p.Gly164_His199del) c.481_588del (p.Gly161_His196del) c.472_579del (p.Gly158_His193del) c.343_450del (p.Gly115_His150del) n.69+1967_69+2074del | gnomAD v4 |
| 17 | g.8121823_8121907del | CA2635937562 | HES7 | c.366_450del (p.Gln122HisfsTer?) c.351_435del (p.Gln117HisfsTer?) c.342_426del (p.Gln114HisfsTer?) c.471_555del (p.Gln157HisfsTer?) c.462_546del (p.Gln154HisfsTer?) c.453_537del (p.Gln151HisfsTer?) c.324_408del (p.Gln108HisfsTer?) n.69+2009_69+2093del | gnomAD v4 |
| 17 | g.8121881T>A | CA397988394 | HES7 | c.383A>T (p.His128Leu) c.368A>T (p.His123Leu) c.359A>T (p.His120Leu) c.488A>T (p.His163Leu) c.479A>T (p.His160Leu) c.470A>T (p.His157Leu) c.341A>T (p.His114Leu) n.69+2067T>A | |
| 17 | g.8121881T>C | CA8368653 | HES7 | c.383A>G (p.His128Arg) c.368A>G (p.His123Arg) c.359A>G (p.His120Arg) c.488A>G (p.His163Arg) c.479A>G (p.His160Arg) c.470A>G (p.His157Arg) c.341A>G (p.His114Arg) n.69+2067T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121881T>G | CA397988396 | HES7 | c.383A>C (p.His128Pro) c.368A>C (p.His123Pro) c.359A>C (p.His120Pro) c.488A>C (p.His163Pro) c.479A>C (p.His160Pro) c.470A>C (p.His157Pro) c.341A>C (p.His114Pro) n.69+2067T>G | |
| 17 | g.8121881T= | CA2246160603 | HES7 | c.383A= (p.His128=) c.368A= (p.His123=) c.359A= (p.His120=) c.488A= (p.His163=) c.479A= (p.His160=) c.470A= (p.His157=) c.341A= (p.His114=) n.69+2067T= | |
| 17 | g.8121882G>A | CA397988399 | HES7 | c.382C>T (p.His128Tyr) c.367C>T (p.His123Tyr) c.358C>T (p.His120Tyr) c.487C>T (p.His163Tyr) c.478C>T (p.His160Tyr) c.469C>T (p.His157Tyr) c.340C>T (p.His114Tyr) n.69+2068G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121882G>C | CA397988402 | HES7 | c.382C>G (p.His128Asp) c.367C>G (p.His123Asp) c.358C>G (p.His120Asp) c.487C>G (p.His163Asp) c.478C>G (p.His160Asp) c.469C>G (p.His157Asp) c.340C>G (p.His114Asp) n.69+2068G>C | |
| 17 | g.8121882G= | CA2246160610 | HES7 | c.382C= (p.His128=) c.367C= (p.His123=) c.358C= (p.His120=) c.487C= (p.His163=) c.478C= (p.His160=) c.469C= (p.His157=) c.340C= (p.His114=) n.69+2068G= | |
| 17 | g.8121882G>T | CA397988400 | HES7 | c.382C>A (p.His128Asn) c.367C>A (p.His123Asn) c.358C>A (p.His120Asn) c.487C>A (p.His163Asn) c.478C>A (p.His160Asn) c.469C>A (p.His157Asn) c.340C>A (p.His114Asn) n.69+2068G>T | gnomAD v4 |
| 17 | g.8121883C>A | CA497955450 | HES7 | c.381G>T (p.Leu127=) c.366G>T (p.Leu122=) c.357G>T (p.Leu119=) c.486G>T (p.Leu162=) c.477G>T (p.Leu159=) c.468G>T (p.Leu156=) c.339G>T (p.Leu113=) n.69+2069C>A | gnomAD v4 |
| 17 | g.8121883C>G | CA497955451 | HES7 | c.381G>C (p.Leu127=) c.366G>C (p.Leu122=) c.357G>C (p.Leu119=) c.486G>C (p.Leu162=) c.477G>C (p.Leu159=) c.468G>C (p.Leu156=) c.339G>C (p.Leu113=) n.69+2069C>G | |
| 17 | g.8121883C>T | CA497955452 | HES7 | c.381G>A (p.Leu127=) c.366G>A (p.Leu122=) c.357G>A (p.Leu119=) c.486G>A (p.Leu162=) c.477G>A (p.Leu159=) c.468G>A (p.Leu156=) c.339G>A (p.Leu113=) n.69+2069C>T | gnomAD v4 |
| 17 | g.8121884A= | CA2246160616 | HES7 | c.380T= (p.Leu127=) c.365T= (p.Leu122=) c.356T= (p.Leu119=) c.485T= (p.Leu162=) c.476T= (p.Leu159=) c.467T= (p.Leu156=) c.338T= (p.Leu113=) n.69+2070A= | |
| 17 | g.8121884A>C | CA287537298 | HES7 | c.380T>G (p.Leu127Arg) c.365T>G (p.Leu122Arg) c.356T>G (p.Leu119Arg) c.485T>G (p.Leu162Arg) c.476T>G (p.Leu159Arg) c.467T>G (p.Leu156Arg) c.338T>G (p.Leu113Arg) n.69+2070A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121884A>G | CA397988405 | HES7 | c.380T>C (p.Leu127Pro) c.365T>C (p.Leu122Pro) c.356T>C (p.Leu119Pro) c.485T>C (p.Leu162Pro) c.476T>C (p.Leu159Pro) c.467T>C (p.Leu156Pro) c.338T>C (p.Leu113Pro) n.69+2070A>G | |
| 17 | g.8121884A>T | CA397988407 | HES7 | c.380T>A (p.Leu127Gln) c.365T>A (p.Leu122Gln) c.356T>A (p.Leu119Gln) c.485T>A (p.Leu162Gln) c.476T>A (p.Leu159Gln) c.467T>A (p.Leu156Gln) c.338T>A (p.Leu113Gln) n.69+2070A>T | |
| 17 | g.8121885G>A | CA497955453 | HES7 | c.379C>T (p.Leu127=) c.364C>T (p.Leu122=) c.355C>T (p.Leu119=) c.484C>T (p.Leu162=) c.475C>T (p.Leu159=) c.466C>T (p.Leu156=) c.337C>T (p.Leu113=) n.69+2071G>A | |
| 17 | g.8121885G>C | CA397988409 | HES7 | c.379C>G (p.Leu127Val) c.364C>G (p.Leu122Val) c.355C>G (p.Leu119Val) c.484C>G (p.Leu162Val) c.475C>G (p.Leu159Val) c.466C>G (p.Leu156Val) c.337C>G (p.Leu113Val) n.69+2071G>C | |
| 17 | g.8121885G>T | CA397988411 | HES7 | c.379C>A (p.Leu127Met) c.364C>A (p.Leu122Met) c.355C>A (p.Leu119Met) c.484C>A (p.Leu162Met) c.475C>A (p.Leu159Met) c.466C>A (p.Leu156Met) c.337C>A (p.Leu113Met) n.69+2071G>T | |
| 17 | g.8121890_8121931del | CA2635938137 | HES7 | c.338_379del (p.His113_Ala126del) c.323_364del (p.His108_Ala121del) c.314_355del (p.His105_Ala118del) c.443_484del (p.His148_Ala161del) c.434_475del (p.His145_Ala158del) c.425_466del (p.His142_Ala155del) c.296_337del (p.His99_Ala112del) n.69+2076_69+2117del | gnomAD v4 |
| 17 | g.8121886C>A | CA497955455 | HES7 | c.378G>T (p.Ala126=) c.363G>T (p.Ala121=) c.354G>T (p.Ala118=) c.483G>T (p.Ala161=) c.474G>T (p.Ala158=) c.465G>T (p.Ala155=) c.336G>T (p.Ala112=) n.69+2072C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121886C= | CA2246160623 | HES7 | c.378G= (p.Ala126=) c.363G= (p.Ala121=) c.354G= (p.Ala118=) c.483G= (p.Ala161=) c.474G= (p.Ala158=) c.465G= (p.Ala155=) c.336G= (p.Ala112=) n.69+2072C= | |
| 17 | g.8121886C>G | CA497955456 | HES7 | c.378G>C (p.Ala126=) c.363G>C (p.Ala121=) c.354G>C (p.Ala118=) c.483G>C (p.Ala161=) c.474G>C (p.Ala158=) c.465G>C (p.Ala155=) c.336G>C (p.Ala112=) n.69+2072C>G | |
| 17 | g.8121886C>T | CA497955457 | HES7 | c.378G>A (p.Ala126=) c.363G>A (p.Ala121=) c.354G>A (p.Ala118=) c.483G>A (p.Ala161=) c.474G>A (p.Ala158=) c.465G>A (p.Ala155=) c.336G>A (p.Ala112=) n.69+2072C>T | gnomAD v4 |
| 17 | g.8121887G>A | CA397988413 | HES7 | c.377C>T (p.Ala126Val) c.362C>T (p.Ala121Val) c.353C>T (p.Ala118Val) c.482C>T (p.Ala161Val) c.473C>T (p.Ala158Val) c.464C>T (p.Ala155Val) c.335C>T (p.Ala112Val) n.69+2073G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121887G>C | CA397988415 | HES7 | c.377C>G (p.Ala126Gly) c.362C>G (p.Ala121Gly) c.353C>G (p.Ala118Gly) c.482C>G (p.Ala161Gly) c.473C>G (p.Ala158Gly) c.464C>G (p.Ala155Gly) c.335C>G (p.Ala112Gly) n.69+2073G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121887G= | CA2246160626 | HES7 | c.377C= (p.Ala126=) c.362C= (p.Ala121=) c.353C= (p.Ala118=) c.482C= (p.Ala161=) c.473C= (p.Ala158=) c.464C= (p.Ala155=) c.335C= (p.Ala112=) n.69+2073G= | |
| 17 | g.8121887G>T | CA397988417 | HES7 | c.377C>A (p.Ala126Glu) c.362C>A (p.Ala121Glu) c.353C>A (p.Ala118Glu) c.482C>A (p.Ala161Glu) c.473C>A (p.Ala158Glu) c.464C>A (p.Ala155Glu) c.335C>A (p.Ala112Glu) n.69+2073G>T | gnomAD v4 |
| 17 | g.8121888C>A | CA8368654 | HES7 | c.376G>T (p.Ala126Ser) c.361G>T (p.Ala121Ser) c.352G>T (p.Ala118Ser) c.481G>T (p.Ala161Ser) c.472G>T (p.Ala158Ser) c.463G>T (p.Ala155Ser) c.334G>T (p.Ala112Ser) n.69+2074C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121888C= | CA2246160631 | HES7 | c.376G= (p.Ala126=) c.361G= (p.Ala121=) c.352G= (p.Ala118=) c.481G= (p.Ala161=) c.472G= (p.Ala158=) c.463G= (p.Ala155=) c.334G= (p.Ala112=) n.69+2074C= | |
| 17 | g.8121888C>G | CA397988420 | HES7 | c.376G>C (p.Ala126Pro) c.361G>C (p.Ala121Pro) c.352G>C (p.Ala118Pro) c.481G>C (p.Ala161Pro) c.472G>C (p.Ala158Pro) c.463G>C (p.Ala155Pro) c.334G>C (p.Ala112Pro) n.69+2074C>G | gnomAD v4 |
| 17 | g.8121888C>T | CA397988422 | HES7 | c.376G>A (p.Ala126Thr) c.361G>A (p.Ala121Thr) c.352G>A (p.Ala118Thr) c.481G>A (p.Ala161Thr) c.472G>A (p.Ala158Thr) c.463G>A (p.Ala155Thr) c.334G>A (p.Ala112Thr) n.69+2074C>T | gnomAD v4 |
| 17 | g.8121889G>A | CA497955461 | HES7 | c.375C>T (p.Ser125=) c.360C>T (p.Ser120=) c.351C>T (p.Ser117=) c.480C>T (p.Ser160=) c.471C>T (p.Ser157=) c.462C>T (p.Ser154=) c.333C>T (p.Ser111=) n.69+2075G>A | dbSNP gnomAD v4 |
| 17 | g.8121889G>C | CA497955462 | HES7 | c.375C>G (p.Ser125=) c.360C>G (p.Ser120=) c.351C>G (p.Ser117=) c.480C>G (p.Ser160=) c.471C>G (p.Ser157=) c.462C>G (p.Ser154=) c.333C>G (p.Ser111=) n.69+2075G>C | |
| 17 | g.8121889G= | CA2246160635 | HES7 | c.375C= (p.Ser125=) c.360C= (p.Ser120=) c.351C= (p.Ser117=) c.480C= (p.Ser160=) c.471C= (p.Ser157=) c.462C= (p.Ser154=) c.333C= (p.Ser111=) n.69+2075G= | |
| 17 | g.8121889G>T | CA497955463 | HES7 | c.375C>A (p.Ser125=) c.360C>A (p.Ser120=) c.351C>A (p.Ser117=) c.480C>A (p.Ser160=) c.471C>A (p.Ser157=) c.462C>A (p.Ser154=) c.333C>A (p.Ser111=) n.69+2075G>T | gnomAD v4 |
| 17 | g.8121890_8121892del | CA2576161675 | HES7 | c.373_375del (p.Ser125del) c.358_360del (p.Ser120del) c.349_351del (p.Ser117del) c.478_480del (p.Ser160del) c.469_471del (p.Ser157del) c.460_462del (p.Ser154del) c.331_333del (p.Ser111del) n.69+2076_69+2078del | gnomAD v4 |
| 17 | g.8121890G>A | CA397988427 | HES7 | c.374C>T (p.Ser125Phe) c.359C>T (p.Ser120Phe) c.350C>T (p.Ser117Phe) c.479C>T (p.Ser160Phe) c.470C>T (p.Ser157Phe) c.461C>T (p.Ser154Phe) c.332C>T (p.Ser111Phe) n.69+2076G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121890G>C | CA397988426 | HES7 | c.374C>G (p.Ser125Cys) c.359C>G (p.Ser120Cys) c.350C>G (p.Ser117Cys) c.479C>G (p.Ser160Cys) c.470C>G (p.Ser157Cys) c.461C>G (p.Ser154Cys) c.332C>G (p.Ser111Cys) n.69+2076G>C | |
| 17 | g.8121890G= | CA2246160640 | HES7 | c.374C= (p.Ser125=) c.359C= (p.Ser120=) c.350C= (p.Ser117=) c.479C= (p.Ser160=) c.470C= (p.Ser157=) c.461C= (p.Ser154=) c.332C= (p.Ser111=) n.69+2076G= | |
| 17 | g.8121890G>T | CA397988424 | HES7 | c.374C>A (p.Ser125Tyr) c.359C>A (p.Ser120Tyr) c.350C>A (p.Ser117Tyr) c.479C>A (p.Ser160Tyr) c.470C>A (p.Ser157Tyr) c.461C>A (p.Ser154Tyr) c.332C>A (p.Ser111Tyr) n.69+2076G>T | |
| 17 | g.8121891A>C | CA397988432 | HES7 | c.373T>G (p.Ser125Ala) c.358T>G (p.Ser120Ala) c.349T>G (p.Ser117Ala) c.478T>G (p.Ser160Ala) c.469T>G (p.Ser157Ala) c.460T>G (p.Ser154Ala) c.331T>G (p.Ser111Ala) n.69+2077A>C | |
| 17 | g.8121891A>G | CA397988429 | HES7 | c.373T>C (p.Ser125Pro) c.358T>C (p.Ser120Pro) c.349T>C (p.Ser117Pro) c.478T>C (p.Ser160Pro) c.469T>C (p.Ser157Pro) c.460T>C (p.Ser154Pro) c.331T>C (p.Ser111Pro) n.69+2077A>G | |
| 17 | g.8121891A>T | CA397988431 | HES7 | c.373T>A (p.Ser125Thr) c.358T>A (p.Ser120Thr) c.349T>A (p.Ser117Thr) c.478T>A (p.Ser160Thr) c.469T>A (p.Ser157Thr) c.460T>A (p.Ser154Thr) c.331T>A (p.Ser111Thr) n.69+2077A>T | |
| 17 | g.8121892del | CA2531398372 | HES7 | c.372del (p.Ser125ProfsTer17) c.357del (p.Ser120ProfsTer17) c.348del (p.Ser117ProfsTer17) c.477del (p.Ser160ProfsTer17) c.468del (p.Ser157ProfsTer17) c.459del (p.Ser154ProfsTer17) c.330del (p.Ser111ProfsTer17) n.69+2078del | |
| 17 | g.8121892G>A | CA497955467 | HES7 | c.372C>T (p.Phe124=) c.357C>T (p.Phe119=) c.348C>T (p.Phe116=) c.477C>T (p.Phe159=) c.468C>T (p.Phe156=) c.459C>T (p.Phe153=) c.330C>T (p.Phe110=) n.69+2078G>A | gnomAD v4 |
| 17 | g.8121892G>C | CA397988434 | HES7 | c.372C>G (p.Phe124Leu) c.357C>G (p.Phe119Leu) c.348C>G (p.Phe116Leu) c.477C>G (p.Phe159Leu) c.468C>G (p.Phe156Leu) c.459C>G (p.Phe153Leu) c.330C>G (p.Phe110Leu) n.69+2078G>C | |
| 17 | g.8121892G= | CA2246160642 | HES7 | c.372C= (p.Phe124=) c.357C= (p.Phe119=) c.348C= (p.Phe116=) c.477C= (p.Phe159=) c.468C= (p.Phe156=) c.459C= (p.Phe153=) c.330C= (p.Phe110=) n.69+2078G= | |
| 17 | g.8121892G>T | CA397988435 | HES7 | c.372C>A (p.Phe124Leu) c.357C>A (p.Phe119Leu) c.348C>A (p.Phe116Leu) c.477C>A (p.Phe159Leu) c.468C>A (p.Phe156Leu) c.459C>A (p.Phe153Leu) c.330C>A (p.Phe110Leu) n.69+2078G>T | gnomAD v4 |
| 17 | g.8121893A>C | CA397988437 | HES7 | c.371T>G (p.Phe124Cys) c.356T>G (p.Phe119Cys) c.347T>G (p.Phe116Cys) c.476T>G (p.Phe159Cys) c.467T>G (p.Phe156Cys) c.458T>G (p.Phe153Cys) c.329T>G (p.Phe110Cys) n.69+2079A>C | |
| 17 | g.8121893A>G | CA397988439 | HES7 | c.371T>C (p.Phe124Ser) c.356T>C (p.Phe119Ser) c.347T>C (p.Phe116Ser) c.476T>C (p.Phe159Ser) c.467T>C (p.Phe156Ser) c.458T>C (p.Phe153Ser) c.329T>C (p.Phe110Ser) n.69+2079A>G | gnomAD v4 |
| 17 | g.8121893A>T | CA397988441 | HES7 | c.371T>A (p.Phe124Tyr) c.356T>A (p.Phe119Tyr) c.347T>A (p.Phe116Tyr) c.476T>A (p.Phe159Tyr) c.467T>A (p.Phe156Tyr) c.458T>A (p.Phe153Tyr) c.329T>A (p.Phe110Tyr) n.69+2079A>T | |
| 17 | g.8121893_8121909dup | CA624868564 | HES7 | c.355_371dup (p.Phe124LeufsTer24) c.340_356dup (p.Phe119LeufsTer24) c.331_347dup (p.Phe116LeufsTer24) c.460_476dup (p.Phe159LeufsTer24) c.451_467dup (p.Phe156LeufsTer24) c.442_458dup (p.Phe153LeufsTer24) c.313_329dup (p.Phe110LeufsTer24) n.69+2079_69+2095dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121894A>C | CA397988443 | HES7 | c.370T>G (p.Phe124Val) c.355T>G (p.Phe119Val) c.346T>G (p.Phe116Val) c.475T>G (p.Phe159Val) c.466T>G (p.Phe156Val) c.457T>G (p.Phe153Val) c.328T>G (p.Phe110Val) n.69+2080A>C | |
| 17 | g.8121894A>G | CA397988445 | HES7 | c.370T>C (p.Phe124Leu) c.355T>C (p.Phe119Leu) c.346T>C (p.Phe116Leu) c.475T>C (p.Phe159Leu) c.466T>C (p.Phe156Leu) c.457T>C (p.Phe153Leu) c.328T>C (p.Phe110Leu) n.69+2080A>G | |
| 17 | g.8121894A>T | CA397988446 | HES7 | c.370T>A (p.Phe124Ile) c.355T>A (p.Phe119Ile) c.346T>A (p.Phe116Ile) c.475T>A (p.Phe159Ile) c.466T>A (p.Phe156Ile) c.457T>A (p.Phe153Ile) c.328T>A (p.Phe110Ile) n.69+2080A>T | |
| 17 | g.8121895G>A | CA497955472 | HES7 | c.369C>T (p.Leu123=) c.354C>T (p.Leu118=) c.345C>T (p.Leu115=) c.474C>T (p.Leu158=) c.465C>T (p.Leu155=) c.456C>T (p.Leu152=) c.327C>T (p.Leu109=) n.69+2081G>A | gnomAD v4 |
| 17 | g.8121895G>C | CA497955474 | HES7 | c.369C>G (p.Leu123=) c.354C>G (p.Leu118=) c.345C>G (p.Leu115=) c.474C>G (p.Leu158=) c.465C>G (p.Leu155=) c.456C>G (p.Leu152=) c.327C>G (p.Leu109=) n.69+2081G>C | |
| 17 | g.8121895G>T | CA497955471 | HES7 | c.369C>A (p.Leu123=) c.354C>A (p.Leu118=) c.345C>A (p.Leu115=) c.474C>A (p.Leu158=) c.465C>A (p.Leu155=) c.456C>A (p.Leu152=) c.327C>A (p.Leu109=) n.69+2081G>T | |
| 17 | g.8121896A= | CA2246160644 | HES7 | c.368T= (p.Leu123=) c.353T= (p.Leu118=) c.344T= (p.Leu115=) c.473T= (p.Leu158=) c.464T= (p.Leu155=) c.455T= (p.Leu152=) c.326T= (p.Leu109=) n.69+2082A= | |
| 17 | g.8121896A>C | CA397988449 | HES7 | c.368T>G (p.Leu123Arg) c.353T>G (p.Leu118Arg) c.344T>G (p.Leu115Arg) c.473T>G (p.Leu158Arg) c.464T>G (p.Leu155Arg) c.455T>G (p.Leu152Arg) c.326T>G (p.Leu109Arg) n.69+2082A>C | |
| 17 | g.8121896A>G | CA397988450 | HES7 | c.368T>C (p.Leu123Pro) c.353T>C (p.Leu118Pro) c.344T>C (p.Leu115Pro) c.473T>C (p.Leu158Pro) c.464T>C (p.Leu155Pro) c.455T>C (p.Leu152Pro) c.326T>C (p.Leu109Pro) n.69+2082A>G | dbSNP gnomAD v4 |
| 17 | g.8121896A>T | CA397988452 | HES7 | c.368T>A (p.Leu123His) c.353T>A (p.Leu118His) c.344T>A (p.Leu115His) c.473T>A (p.Leu158His) c.464T>A (p.Leu155His) c.455T>A (p.Leu152His) c.326T>A (p.Leu109His) n.69+2082A>T | |
| 17 | g.8121896_8121899dup | CA2635938175 | HES7 | c.365_368dup (p.Phe124AlafsTer?) c.350_353dup (p.Phe119AlafsTer?) c.341_344dup (p.Phe116AlafsTer?) c.470_473dup (p.Phe159AlafsTer?) c.461_464dup (p.Phe156AlafsTer?) c.452_455dup (p.Phe153AlafsTer?) c.323_326dup (p.Phe110AlafsTer?) n.69+2082_69+2085dup | gnomAD v4 |
| 17 | g.8121897G>A | CA397988456 | HES7 | c.367C>T (p.Leu123Phe) c.352C>T (p.Leu118Phe) c.343C>T (p.Leu115Phe) c.472C>T (p.Leu158Phe) c.463C>T (p.Leu155Phe) c.454C>T (p.Leu152Phe) c.325C>T (p.Leu109Phe) n.69+2083G>A | |
| 17 | g.8121897G>C | CA397988458 | HES7 | c.367C>G (p.Leu123Val) c.352C>G (p.Leu118Val) c.343C>G (p.Leu115Val) c.472C>G (p.Leu158Val) c.463C>G (p.Leu155Val) c.454C>G (p.Leu152Val) c.325C>G (p.Leu109Val) n.69+2083G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121897G= | CA2246160645 | HES7 | c.367C= (p.Leu123=) c.352C= (p.Leu118=) c.343C= (p.Leu115=) c.472C= (p.Leu158=) c.463C= (p.Leu155=) c.454C= (p.Leu152=) c.325C= (p.Leu109=) n.69+2083G= | |
| 17 | g.8121897G>T | CA397988455 | HES7 | c.367C>A (p.Leu123Ile) c.352C>A (p.Leu118Ile) c.343C>A (p.Leu115Ile) c.472C>A (p.Leu158Ile) c.463C>A (p.Leu155Ile) c.454C>A (p.Leu152Ile) c.325C>A (p.Leu109Ile) n.69+2083G>T | |
| 17 | g.8121898C>A | CA397988460 | HES7 | c.366G>T (p.Gln122His) c.351G>T (p.Gln117His) c.342G>T (p.Gln114His) c.471G>T (p.Gln157His) c.462G>T (p.Gln154His) c.453G>T (p.Gln151His) c.324G>T (p.Gln108His) n.69+2084C>A | gnomAD v4 |
| 17 | g.8121898C>G | CA397988462 | HES7 | c.366G>C (p.Gln122His) c.351G>C (p.Gln117His) c.342G>C (p.Gln114His) c.471G>C (p.Gln157His) c.462G>C (p.Gln154His) c.453G>C (p.Gln151His) c.324G>C (p.Gln108His) n.69+2084C>G | gnomAD v4 |
| 17 | g.8121898C>T | CA497955477 | HES7 | c.366G>A (p.Gln122=) c.351G>A (p.Gln117=) c.342G>A (p.Gln114=) c.471G>A (p.Gln157=) c.462G>A (p.Gln154=) c.453G>A (p.Gln151=) c.324G>A (p.Gln108=) n.69+2084C>T | gnomAD v4 |
| 17 | g.8121899T>A | CA397988465 | HES7 | c.365A>T (p.Gln122Leu) c.350A>T (p.Gln117Leu) c.341A>T (p.Gln114Leu) c.470A>T (p.Gln157Leu) c.461A>T (p.Gln154Leu) c.452A>T (p.Gln151Leu) c.323A>T (p.Gln108Leu) n.69+2085T>A | |
| 17 | g.8121899T>C | CA397988466 | HES7 | c.365A>G (p.Gln122Arg) c.350A>G (p.Gln117Arg) c.341A>G (p.Gln114Arg) c.470A>G (p.Gln157Arg) c.461A>G (p.Gln154Arg) c.452A>G (p.Gln151Arg) c.323A>G (p.Gln108Arg) n.69+2085T>C | gnomAD v4 |
| 17 | g.8121899T>G | CA397988468 | HES7 | c.365A>C (p.Gln122Pro) c.350A>C (p.Gln117Pro) c.341A>C (p.Gln114Pro) c.470A>C (p.Gln157Pro) c.461A>C (p.Gln154Pro) c.452A>C (p.Gln151Pro) c.323A>C (p.Gln108Pro) n.69+2085T>G | |
| 17 | g.8121900G>A | CA397988473 | HES7 | c.364C>T (p.Gln122Ter) c.349C>T (p.Gln117Ter) c.340C>T (p.Gln114Ter) c.469C>T (p.Gln157Ter) c.460C>T (p.Gln154Ter) c.451C>T (p.Gln151Ter) c.322C>T (p.Gln108Ter) n.69+2086G>A | |
| 17 | g.8121900G>C | CA397988470 | HES7 | c.364C>G (p.Gln122Glu) c.349C>G (p.Gln117Glu) c.340C>G (p.Gln114Glu) c.469C>G (p.Gln157Glu) c.460C>G (p.Gln154Glu) c.451C>G (p.Gln151Glu) c.322C>G (p.Gln108Glu) n.69+2086G>C | |
| 17 | g.8121900G>T | CA397988472 | HES7 | c.364C>A (p.Gln122Lys) c.349C>A (p.Gln117Lys) c.340C>A (p.Gln114Lys) c.469C>A (p.Gln157Lys) c.460C>A (p.Gln154Lys) c.451C>A (p.Gln151Lys) c.322C>A (p.Gln108Lys) n.69+2086G>T | |
| 17 | g.8121901G>A | CA497955482 | HES7 | c.363C>T (p.Ala121=) c.348C>T (p.Ala116=) c.339C>T (p.Ala113=) c.468C>T (p.Ala156=) c.459C>T (p.Ala153=) c.450C>T (p.Ala150=) c.321C>T (p.Ala107=) n.69+2087G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121901G>C | CA497955481 | HES7 | c.363C>G (p.Ala121=) c.348C>G (p.Ala116=) c.339C>G (p.Ala113=) c.468C>G (p.Ala156=) c.459C>G (p.Ala153=) c.450C>G (p.Ala150=) c.321C>G (p.Ala107=) n.69+2087G>C | |
| 17 | g.8121901G= | CA2246160647 | HES7 | c.363C= (p.Ala121=) c.348C= (p.Ala116=) c.339C= (p.Ala113=) c.468C= (p.Ala156=) c.459C= (p.Ala153=) c.450C= (p.Ala150=) c.321C= (p.Ala107=) n.69+2087G= | |
| 17 | g.8121901G>T | CA497955480 | HES7 | c.363C>A (p.Ala121=) c.348C>A (p.Ala116=) c.339C>A (p.Ala113=) c.468C>A (p.Ala156=) c.459C>A (p.Ala153=) c.450C>A (p.Ala150=) c.321C>A (p.Ala107=) n.69+2087G>T | |
| 17 | g.8121902G>A | CA397988476 | HES7 | c.362C>T (p.Ala121Val) c.347C>T (p.Ala116Val) c.338C>T (p.Ala113Val) c.467C>T (p.Ala156Val) c.458C>T (p.Ala153Val) c.449C>T (p.Ala150Val) c.320C>T (p.Ala107Val) n.69+2088G>A | gnomAD v4 |
| 17 | g.8121902G>C | CA397988477 | HES7 | c.362C>G (p.Ala121Gly) c.347C>G (p.Ala116Gly) c.338C>G (p.Ala113Gly) c.467C>G (p.Ala156Gly) c.458C>G (p.Ala153Gly) c.449C>G (p.Ala150Gly) c.320C>G (p.Ala107Gly) n.69+2088G>C | |
| 17 | g.8121902G>T | CA397988478 | HES7 | c.362C>A (p.Ala121Asp) c.347C>A (p.Ala116Asp) c.338C>A (p.Ala113Asp) c.467C>A (p.Ala156Asp) c.458C>A (p.Ala153Asp) c.449C>A (p.Ala150Asp) c.320C>A (p.Ala107Asp) n.69+2088G>T | gnomAD v4 |
| 17 | g.8121903C>A | CA8368655 | HES7 | c.361G>T (p.Ala121Ser) c.346G>T (p.Ala116Ser) c.337G>T (p.Ala113Ser) c.466G>T (p.Ala156Ser) c.457G>T (p.Ala153Ser) c.448G>T (p.Ala150Ser) c.319G>T (p.Ala107Ser) n.69+2089C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121903C= | CA2246160650 | HES7 | c.361G= (p.Ala121=) c.346G= (p.Ala116=) c.337G= (p.Ala113=) c.466G= (p.Ala156=) c.457G= (p.Ala153=) c.448G= (p.Ala150=) c.319G= (p.Ala107=) n.69+2089C= | |
| 17 | g.8121903C>G | CA397988481 | HES7 | c.361G>C (p.Ala121Pro) c.346G>C (p.Ala116Pro) c.337G>C (p.Ala113Pro) c.466G>C (p.Ala156Pro) c.457G>C (p.Ala153Pro) c.448G>C (p.Ala150Pro) c.319G>C (p.Ala107Pro) n.69+2089C>G | |
| 17 | g.8121903C>T | CA397988485 | HES7 | c.361G>A (p.Ala121Thr) c.346G>A (p.Ala116Thr) c.337G>A (p.Ala113Thr) c.466G>A (p.Ala156Thr) c.457G>A (p.Ala153Thr) c.448G>A (p.Ala150Thr) c.319G>A (p.Ala107Thr) n.69+2089C>T | gnomAD v4 |
| 17 | g.8121904G>A | CA497955484 | HES7 | c.360C>T (p.Arg120=) c.345C>T (p.Arg115=) c.336C>T (p.Arg112=) c.465C>T (p.Arg155=) c.456C>T (p.Arg152=) c.447C>T (p.Arg149=) c.318C>T (p.Arg106=) n.69+2090G>A | gnomAD v4 |
| 17 | g.8121904G>C | CA497955485 | HES7 | c.360C>G (p.Arg120=) c.345C>G (p.Arg115=) c.336C>G (p.Arg112=) c.465C>G (p.Arg155=) c.456C>G (p.Arg152=) c.447C>G (p.Arg149=) c.318C>G (p.Arg106=) n.69+2090G>C | |
| 17 | g.8121904G>T | CA497955486 | HES7 | c.360C>A (p.Arg120=) c.345C>A (p.Arg115=) c.336C>A (p.Arg112=) c.465C>A (p.Arg155=) c.456C>A (p.Arg152=) c.447C>A (p.Arg149=) c.318C>A (p.Arg106=) n.69+2090G>T | |
| 17 | g.8121905C>A | CA397988490 | HES7 | c.359G>T (p.Arg120Leu) c.344G>T (p.Arg115Leu) c.335G>T (p.Arg112Leu) c.464G>T (p.Arg155Leu) c.455G>T (p.Arg152Leu) c.446G>T (p.Arg149Leu) c.317G>T (p.Arg106Leu) n.69+2091C>A | gnomAD v4 |
| 17 | g.8121905C= | CA2246160657 | HES7 | c.359G= (p.Arg120=) c.344G= (p.Arg115=) c.335G= (p.Arg112=) c.464G= (p.Arg155=) c.455G= (p.Arg152=) c.446G= (p.Arg149=) c.317G= (p.Arg106=) n.69+2091C= | |
| 17 | g.8121905C>G | CA397988492 | HES7 | c.359G>C (p.Arg120Pro) c.344G>C (p.Arg115Pro) c.335G>C (p.Arg112Pro) c.464G>C (p.Arg155Pro) c.455G>C (p.Arg152Pro) c.446G>C (p.Arg149Pro) c.317G>C (p.Arg106Pro) n.69+2091C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121905C>T | CA397988489 | HES7 | c.359G>A (p.Arg120His) c.344G>A (p.Arg115His) c.335G>A (p.Arg112His) c.464G>A (p.Arg155His) c.455G>A (p.Arg152His) c.446G>A (p.Arg149His) c.317G>A (p.Arg106His) n.69+2091C>T | gnomAD v4 |
| 17 | g.8121906G>A | CA397988495 | HES7 | c.358C>T (p.Arg120Cys) c.343C>T (p.Arg115Cys) c.334C>T (p.Arg112Cys) c.463C>T (p.Arg155Cys) c.454C>T (p.Arg152Cys) c.445C>T (p.Arg149Cys) c.316C>T (p.Arg106Cys) n.69+2092G>A | gnomAD v4 |
| 17 | g.8121906G>C | CA8368657 | HES7 | c.358C>G (p.Arg120Gly) c.343C>G (p.Arg115Gly) c.334C>G (p.Arg112Gly) c.463C>G (p.Arg155Gly) c.454C>G (p.Arg152Gly) c.445C>G (p.Arg149Gly) c.316C>G (p.Arg106Gly) n.69+2092G>C | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.8121906G= | CA2246160662 | HES7 | c.358C= (p.Arg120=) c.343C= (p.Arg115=) c.334C= (p.Arg112=) c.463C= (p.Arg155=) c.454C= (p.Arg152=) c.445C= (p.Arg149=) c.316C= (p.Arg106=) n.69+2092G= | |
| 17 | g.8121906G>T | CA8368656 | HES7 | c.358C>A (p.Arg120Ser) c.343C>A (p.Arg115Ser) c.334C>A (p.Arg112Ser) c.463C>A (p.Arg155Ser) c.454C>A (p.Arg152Ser) c.445C>A (p.Arg149Ser) c.316C>A (p.Arg106Ser) n.69+2092G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121907G>A | CA497955487 | HES7 | c.357C>T (p.Ala119=) c.342C>T (p.Ala114=) c.333C>T (p.Ala111=) c.462C>T (p.Ala154=) c.453C>T (p.Ala151=) c.444C>T (p.Ala148=) c.315C>T (p.Ala105=) n.69+2093G>A | gnomAD v4 |
| 17 | g.8121907G>C | CA497955488 | HES7 | c.357C>G (p.Ala119=) c.342C>G (p.Ala114=) c.333C>G (p.Ala111=) c.462C>G (p.Ala154=) c.453C>G (p.Ala151=) c.444C>G (p.Ala148=) c.315C>G (p.Ala105=) n.69+2093G>C | |
| 17 | g.8121907G>T | CA497955489 | HES7 | c.357C>A (p.Ala119=) c.342C>A (p.Ala114=) c.333C>A (p.Ala111=) c.462C>A (p.Ala154=) c.453C>A (p.Ala151=) c.444C>A (p.Ala148=) c.315C>A (p.Ala105=) n.69+2093G>T | |
| 17 | g.8121908G>A | CA397988499 | HES7 | c.356C>T (p.Ala119Val) c.341C>T (p.Ala114Val) c.332C>T (p.Ala111Val) c.461C>T (p.Ala154Val) c.452C>T (p.Ala151Val) c.443C>T (p.Ala148Val) c.314C>T (p.Ala105Val) n.69+2094G>A | gnomAD v4 |
| 17 | g.8121908G>C | CA397988500 | HES7 | c.356C>G (p.Ala119Gly) c.341C>G (p.Ala114Gly) c.332C>G (p.Ala111Gly) c.461C>G (p.Ala154Gly) c.452C>G (p.Ala151Gly) c.443C>G (p.Ala148Gly) c.314C>G (p.Ala105Gly) n.69+2094G>C | |
| 17 | g.8121908G>T | CA397988502 | HES7 | c.356C>A (p.Ala119Asp) c.341C>A (p.Ala114Asp) c.332C>A (p.Ala111Asp) c.461C>A (p.Ala154Asp) c.452C>A (p.Ala151Asp) c.443C>A (p.Ala148Asp) c.314C>A (p.Ala105Asp) n.69+2094G>T | gnomAD v4 |
| 17 | g.8121909C>A | CA8368658 | HES7 | c.355G>T (p.Ala119Ser) c.340G>T (p.Ala114Ser) c.331G>T (p.Ala111Ser) c.460G>T (p.Ala154Ser) c.451G>T (p.Ala151Ser) c.442G>T (p.Ala148Ser) c.313G>T (p.Ala105Ser) n.69+2095C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121909C= | CA2246160667 | HES7 | c.355G= (p.Ala119=) c.340G= (p.Ala114=) c.331G= (p.Ala111=) c.460G= (p.Ala154=) c.451G= (p.Ala151=) c.442G= (p.Ala148=) c.313G= (p.Ala105=) n.69+2095C= | |
| 17 | g.8121909C>G | CA397988505 | HES7 | c.355G>C (p.Ala119Pro) c.340G>C (p.Ala114Pro) c.331G>C (p.Ala111Pro) c.460G>C (p.Ala154Pro) c.451G>C (p.Ala151Pro) c.442G>C (p.Ala148Pro) c.313G>C (p.Ala105Pro) n.69+2095C>G | |
| 17 | g.8121909C>T | CA397988507 | HES7 | c.355G>A (p.Ala119Thr) c.340G>A (p.Ala114Thr) c.331G>A (p.Ala111Thr) c.460G>A (p.Ala154Thr) c.451G>A (p.Ala151Thr) c.442G>A (p.Ala148Thr) c.313G>A (p.Ala105Thr) n.69+2095C>T | gnomAD v4 |
| 17 | g.8121910G>A | CA8368659 | HES7 | c.354C>T (p.Ala118=) c.339C>T (p.Ala113=) c.330C>T (p.Ala110=) c.459C>T (p.Ala153=) c.450C>T (p.Ala150=) c.441C>T (p.Ala147=) c.312C>T (p.Ala104=) n.69+2096G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121910G>C | CA497955490 | HES7 | c.354C>G (p.Ala118=) c.339C>G (p.Ala113=) c.330C>G (p.Ala110=) c.459C>G (p.Ala153=) c.450C>G (p.Ala150=) c.441C>G (p.Ala147=) c.312C>G (p.Ala104=) n.69+2096G>C | |
| 17 | g.8121910G= | CA2246160670 | HES7 | c.354C= (p.Ala118=) c.339C= (p.Ala113=) c.330C= (p.Ala110=) c.459C= (p.Ala153=) c.450C= (p.Ala150=) c.441C= (p.Ala147=) c.312C= (p.Ala104=) n.69+2096G= | |
| 17 | g.8121910G>T | CA497955491 | HES7 | c.354C>A (p.Ala118=) c.339C>A (p.Ala113=) c.330C>A (p.Ala110=) c.459C>A (p.Ala153=) c.450C>A (p.Ala150=) c.441C>A (p.Ala147=) c.312C>A (p.Ala104=) n.69+2096G>T | gnomAD v4 |
| 17 | g.8121911G>A | CA397988511 | HES7 | c.353C>T (p.Ala118Val) c.338C>T (p.Ala113Val) c.329C>T (p.Ala110Val) c.458C>T (p.Ala153Val) c.449C>T (p.Ala150Val) c.440C>T (p.Ala147Val) c.311C>T (p.Ala104Val) n.69+2097G>A | gnomAD v4 |
| 17 | g.8121911G>C | CA397988513 | HES7 | c.353C>G (p.Ala118Gly) c.338C>G (p.Ala113Gly) c.329C>G (p.Ala110Gly) c.458C>G (p.Ala153Gly) c.449C>G (p.Ala150Gly) c.440C>G (p.Ala147Gly) c.311C>G (p.Ala104Gly) n.69+2097G>C | |
| 17 | g.8121911G>T | CA397988515 | HES7 | c.353C>A (p.Ala118Asp) c.338C>A (p.Ala113Asp) c.329C>A (p.Ala110Asp) c.458C>A (p.Ala153Asp) c.449C>A (p.Ala150Asp) c.440C>A (p.Ala147Asp) c.311C>A (p.Ala104Asp) n.69+2097G>T | gnomAD v4 |
| 17 | g.8121912C>A | CA397988521 | HES7 | c.352G>T (p.Ala118Ser) c.337G>T (p.Ala113Ser) c.328G>T (p.Ala110Ser) c.457G>T (p.Ala153Ser) c.448G>T (p.Ala150Ser) c.439G>T (p.Ala147Ser) c.310G>T (p.Ala104Ser) n.69+2098C>A | gnomAD v4 |
| 17 | g.8121912C>G | CA397988519 | HES7 | c.352G>C (p.Ala118Pro) c.337G>C (p.Ala113Pro) c.328G>C (p.Ala110Pro) c.457G>C (p.Ala153Pro) c.448G>C (p.Ala150Pro) c.439G>C (p.Ala147Pro) c.310G>C (p.Ala104Pro) n.69+2098C>G | |
| 17 | g.8121912C>T | CA397988517 | HES7 | c.352G>A (p.Ala118Thr) c.337G>A (p.Ala113Thr) c.328G>A (p.Ala110Thr) c.457G>A (p.Ala153Thr) c.448G>A (p.Ala150Thr) c.439G>A (p.Ala147Thr) c.310G>A (p.Ala104Thr) n.69+2098C>T | gnomAD v4 |
| 17 | g.8121913C>A | CA497955492 | HES7 | c.351G>T (p.Pro117=) c.336G>T (p.Pro112=) c.327G>T (p.Pro109=) c.456G>T (p.Pro152=) c.447G>T (p.Pro149=) c.438G>T (p.Pro146=) c.309G>T (p.Pro103=) n.69+2099C>A | gnomAD v4 |
| 17 | g.8121913C>G | CA497955493 | HES7 | c.351G>C (p.Pro117=) c.336G>C (p.Pro112=) c.327G>C (p.Pro109=) c.456G>C (p.Pro152=) c.447G>C (p.Pro149=) c.438G>C (p.Pro146=) c.309G>C (p.Pro103=) n.69+2099C>G | |
| 17 | g.8121913C>T | CA497955494 | HES7 | c.351G>A (p.Pro117=) c.336G>A (p.Pro112=) c.327G>A (p.Pro109=) c.456G>A (p.Pro152=) c.447G>A (p.Pro149=) c.438G>A (p.Pro146=) c.309G>A (p.Pro103=) n.69+2099C>T | gnomAD v4 |
| 17 | g.8121914G>A | CA397988523 | HES7 | c.350C>T (p.Pro117Leu) c.335C>T (p.Pro112Leu) c.326C>T (p.Pro109Leu) c.455C>T (p.Pro152Leu) c.446C>T (p.Pro149Leu) c.437C>T (p.Pro146Leu) c.308C>T (p.Pro103Leu) n.69+2100G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121914G>C | CA8368660 | HES7 | c.350C>G (p.Pro117Arg) c.335C>G (p.Pro112Arg) c.326C>G (p.Pro109Arg) c.455C>G (p.Pro152Arg) c.446C>G (p.Pro149Arg) c.437C>G (p.Pro146Arg) c.308C>G (p.Pro103Arg) n.69+2100G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.8121914G= | CA2246160675 | HES7 | c.350C= (p.Pro117=) c.335C= (p.Pro112=) c.326C= (p.Pro109=) c.455C= (p.Pro152=) c.446C= (p.Pro149=) c.437C= (p.Pro146=) c.308C= (p.Pro103=) n.69+2100G= | |
| 17 | g.8121914G>T | CA397988526 | HES7 | c.350C>A (p.Pro117Gln) c.335C>A (p.Pro112Gln) c.326C>A (p.Pro109Gln) c.455C>A (p.Pro152Gln) c.446C>A (p.Pro149Gln) c.437C>A (p.Pro146Gln) c.308C>A (p.Pro103Gln) n.69+2100G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.8121915G>A | CA397988529 | HES7 | c.349C>T (p.Pro117Ser) c.334C>T (p.Pro112Ser) c.325C>T (p.Pro109Ser) c.454C>T (p.Pro152Ser) c.445C>T (p.Pro149Ser) c.436C>T (p.Pro146Ser) c.307C>T (p.Pro103Ser) n.69+2101G>A | |
| 17 | g.8121915G>C | CA397988530 | HES7 | c.349C>G (p.Pro117Ala) c.334C>G (p.Pro112Ala) c.325C>G (p.Pro109Ala) c.454C>G (p.Pro152Ala) c.445C>G (p.Pro149Ala) c.436C>G (p.Pro146Ala) c.307C>G (p.Pro103Ala) n.69+2101G>C | |
| 17 | g.8121915G>T | CA397988532 | HES7 | c.349C>A (p.Pro117Thr) c.334C>A (p.Pro112Thr) c.325C>A (p.Pro109Thr) c.454C>A (p.Pro152Thr) c.445C>A (p.Pro149Thr) c.436C>A (p.Pro146Thr) c.307C>A (p.Pro103Thr) n.69+2101G>T | gnomAD v4 |
| 17 | g.8121916G>A | CA8368661 | HES7 | c.348C>T (p.Ser116=) c.333C>T (p.Ser111=) c.324C>T (p.Ser108=) c.453C>T (p.Ser151=) c.444C>T (p.Ser148=) c.435C>T (p.Ser145=) c.306C>T (p.Ser102=) n.69+2102G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121916G>C | CA397988535 | HES7 | c.348C>G (p.Ser116Arg) c.333C>G (p.Ser111Arg) c.324C>G (p.Ser108Arg) c.453C>G (p.Ser151Arg) c.444C>G (p.Ser148Arg) c.435C>G (p.Ser145Arg) c.306C>G (p.Ser102Arg) n.69+2102G>C | gnomAD v4 |
| 17 | g.8121916G= | CA2246160679 | HES7 | c.348C= (p.Ser116=) c.333C= (p.Ser111=) c.324C= (p.Ser108=) c.453C= (p.Ser151=) c.444C= (p.Ser148=) c.435C= (p.Ser145=) c.306C= (p.Ser102=) n.69+2102G= | |
| 17 | g.8121916G>T | CA397988537 | HES7 | c.348C>A (p.Ser116Arg) c.333C>A (p.Ser111Arg) c.324C>A (p.Ser108Arg) c.453C>A (p.Ser151Arg) c.444C>A (p.Ser148Arg) c.435C>A (p.Ser145Arg) c.306C>A (p.Ser102Arg) n.69+2102G>T | gnomAD v4 |
| 17 | g.8121917C>A | CA397988539 | HES7 | c.347G>T (p.Ser116Ile) c.332G>T (p.Ser111Ile) c.323G>T (p.Ser108Ile) c.452G>T (p.Ser151Ile) c.443G>T (p.Ser148Ile) c.434G>T (p.Ser145Ile) c.305G>T (p.Ser102Ile) n.69+2103C>A | gnomAD v4 |
| 17 | g.8121917C>G | CA397988540 | HES7 | c.347G>C (p.Ser116Thr) c.332G>C (p.Ser111Thr) c.323G>C (p.Ser108Thr) c.452G>C (p.Ser151Thr) c.443G>C (p.Ser148Thr) c.434G>C (p.Ser145Thr) c.305G>C (p.Ser102Thr) n.69+2103C>G | |
| 17 | g.8121917C>T | CA397988542 | HES7 | c.347G>A (p.Ser116Asn) c.332G>A (p.Ser111Asn) c.323G>A (p.Ser108Asn) c.452G>A (p.Ser151Asn) c.443G>A (p.Ser148Asn) c.434G>A (p.Ser145Asn) c.305G>A (p.Ser102Asn) n.69+2103C>T | gnomAD v4 |
| 17 | g.8121918T>A | CA397988545 | HES7 | c.346A>T (p.Ser116Cys) c.331A>T (p.Ser111Cys) c.322A>T (p.Ser108Cys) c.451A>T (p.Ser151Cys) c.442A>T (p.Ser148Cys) c.433A>T (p.Ser145Cys) c.304A>T (p.Ser102Cys) n.69+2104T>A | |
| 17 | g.8121918T>C | CA397988546 | HES7 | c.346A>G (p.Ser116Gly) c.331A>G (p.Ser111Gly) c.322A>G (p.Ser108Gly) c.451A>G (p.Ser151Gly) c.442A>G (p.Ser148Gly) c.433A>G (p.Ser145Gly) c.304A>G (p.Ser102Gly) n.69+2104T>C | |
| 17 | g.8121918T>G | CA397988543 | HES7 | c.346A>C (p.Ser116Arg) c.331A>C (p.Ser111Arg) c.322A>C (p.Ser108Arg) c.451A>C (p.Ser151Arg) c.442A>C (p.Ser148Arg) c.433A>C (p.Ser145Arg) c.304A>C (p.Ser102Arg) n.69+2104T>G | |
| 17 | g.8121919G>A | CA497955495 | HES7 | c.345C>T (p.Ala115=) c.330C>T (p.Ala110=) c.321C>T (p.Ala107=) c.450C>T (p.Ala150=) c.441C>T (p.Ala147=) c.432C>T (p.Ala144=) c.303C>T (p.Ala101=) n.69+2105G>A | gnomAD v4 |
| 17 | g.8121919G>C | CA497955497 | HES7 | c.345C>G (p.Ala115=) c.330C>G (p.Ala110=) c.321C>G (p.Ala107=) c.450C>G (p.Ala150=) c.441C>G (p.Ala147=) c.432C>G (p.Ala144=) c.303C>G (p.Ala101=) n.69+2105G>C | |
| 17 | g.8121919G>T | CA497955496 | HES7 | c.345C>A (p.Ala115=) c.330C>A (p.Ala110=) c.321C>A (p.Ala107=) c.450C>A (p.Ala150=) c.441C>A (p.Ala147=) c.432C>A (p.Ala144=) c.303C>A (p.Ala101=) n.69+2105G>T | |
| 17 | g.8121920G>A | CA397988549 | HES7 | c.344C>T (p.Ala115Val) c.329C>T (p.Ala110Val) c.320C>T (p.Ala107Val) c.449C>T (p.Ala150Val) c.440C>T (p.Ala147Val) c.431C>T (p.Ala144Val) c.302C>T (p.Ala101Val) n.69+2106G>A | |
| 17 | g.8121920G>C | CA397988551 | HES7 | c.344C>G (p.Ala115Gly) c.329C>G (p.Ala110Gly) c.320C>G (p.Ala107Gly) c.449C>G (p.Ala150Gly) c.440C>G (p.Ala147Gly) c.431C>G (p.Ala144Gly) c.302C>G (p.Ala101Gly) n.69+2106G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121920G= | CA2246160683 | HES7 | c.344C= (p.Ala115=) c.329C= (p.Ala110=) c.320C= (p.Ala107=) c.449C= (p.Ala150=) c.440C= (p.Ala147=) c.431C= (p.Ala144=) c.302C= (p.Ala101=) n.69+2106G= | |
| 17 | g.8121920G>T | CA397988552 | HES7 | c.344C>A (p.Ala115Asp) c.329C>A (p.Ala110Asp) c.320C>A (p.Ala107Asp) c.449C>A (p.Ala150Asp) c.440C>A (p.Ala147Asp) c.431C>A (p.Ala144Asp) c.302C>A (p.Ala101Asp) n.69+2106G>T | gnomAD v4 |
| 17 | g.8121921C>A | CA397988554 | HES7 | c.343G>T (p.Ala115Ser) c.328G>T (p.Ala110Ser) c.319G>T (p.Ala107Ser) c.448G>T (p.Ala150Ser) c.439G>T (p.Ala147Ser) c.430G>T (p.Ala144Ser) c.301G>T (p.Ala101Ser) n.69+2107C>A | gnomAD v4 |
| 17 | g.8121921C= | CA2246160688 | HES7 | c.343G= (p.Ala115=) c.328G= (p.Ala110=) c.319G= (p.Ala107=) c.448G= (p.Ala150=) c.439G= (p.Ala147=) c.430G= (p.Ala144=) c.301G= (p.Ala101=) n.69+2107C= | |
| 17 | g.8121921C>G | CA397988556 | HES7 | c.343G>C (p.Ala115Pro) c.328G>C (p.Ala110Pro) c.319G>C (p.Ala107Pro) c.448G>C (p.Ala150Pro) c.439G>C (p.Ala147Pro) c.430G>C (p.Ala144Pro) c.301G>C (p.Ala101Pro) n.69+2107C>G | |
| 17 | g.8121921C>T | CA397988558 | HES7 | c.343G>A (p.Ala115Thr) c.328G>A (p.Ala110Thr) c.319G>A (p.Ala107Thr) c.448G>A (p.Ala150Thr) c.439G>A (p.Ala147Thr) c.430G>A (p.Ala144Thr) c.301G>A (p.Ala101Thr) n.69+2107C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121922G>A | CA497955498 | HES7 | c.342C>T (p.Asp114=) c.327C>T (p.Asp109=) c.318C>T (p.Asp106=) c.447C>T (p.Asp149=) c.438C>T (p.Asp146=) c.429C>T (p.Asp143=) c.300C>T (p.Asp100=) n.69+2108G>A | gnomAD v4 |
| 17 | g.8121922G>C | CA397988560 | HES7 | c.342C>G (p.Asp114Glu) c.327C>G (p.Asp109Glu) c.318C>G (p.Asp106Glu) c.447C>G (p.Asp149Glu) c.438C>G (p.Asp146Glu) c.429C>G (p.Asp143Glu) c.300C>G (p.Asp100Glu) n.69+2108G>C | COSMIC |
| 17 | g.8121922G>T | CA397988562 | HES7 | c.342C>A (p.Asp114Glu) c.327C>A (p.Asp109Glu) c.318C>A (p.Asp106Glu) c.447C>A (p.Asp149Glu) c.438C>A (p.Asp146Glu) c.429C>A (p.Asp143Glu) c.300C>A (p.Asp100Glu) n.69+2108G>T | gnomAD v4 |
| 17 | g.8121923T>A | CA397988564 | HES7 | c.341A>T (p.Asp114Val) c.326A>T (p.Asp109Val) c.317A>T (p.Asp106Val) c.446A>T (p.Asp149Val) c.437A>T (p.Asp146Val) c.428A>T (p.Asp143Val) c.299A>T (p.Asp100Val) n.69+2109T>A | |
| 17 | g.8121923T>C | CA397988566 | HES7 | c.341A>G (p.Asp114Gly) c.326A>G (p.Asp109Gly) c.317A>G (p.Asp106Gly) c.446A>G (p.Asp149Gly) c.437A>G (p.Asp146Gly) c.428A>G (p.Asp143Gly) c.299A>G (p.Asp100Gly) n.69+2109T>C | gnomAD v4 |
| 17 | g.8121923T>G | CA397988567 | HES7 | c.341A>C (p.Asp114Ala) c.326A>C (p.Asp109Ala) c.317A>C (p.Asp106Ala) c.446A>C (p.Asp149Ala) c.437A>C (p.Asp146Ala) c.428A>C (p.Asp143Ala) c.299A>C (p.Asp100Ala) n.69+2109T>G | gnomAD v4 |
| 17 | g.8121924C>A | CA397988570 | HES7 | c.340G>T (p.Asp114Tyr) c.325G>T (p.Asp109Tyr) c.316G>T (p.Asp106Tyr) c.445G>T (p.Asp149Tyr) c.436G>T (p.Asp146Tyr) c.427G>T (p.Asp143Tyr) c.298G>T (p.Asp100Tyr) n.69+2110C>A | gnomAD v4 |
| 17 | g.8121924C>G | CA397988571 | HES7 | c.340G>C (p.Asp114His) c.325G>C (p.Asp109His) c.316G>C (p.Asp106His) c.445G>C (p.Asp149His) c.436G>C (p.Asp146His) c.427G>C (p.Asp143His) c.298G>C (p.Asp100His) n.69+2110C>G | |
| 17 | g.8121924C>T | CA397988573 | HES7 | c.340G>A (p.Asp114Asn) c.325G>A (p.Asp109Asn) c.316G>A (p.Asp106Asn) c.445G>A (p.Asp149Asn) c.436G>A (p.Asp146Asn) c.427G>A (p.Asp143Asn) c.298G>A (p.Asp100Asn) n.69+2110C>T | gnomAD v4 |
| 17 | g.8121925G>A | CA497955499 | HES7 | c.339C>T (p.His113=) c.324C>T (p.His108=) c.315C>T (p.His105=) c.444C>T (p.His148=) c.435C>T (p.His145=) c.426C>T (p.His142=) c.297C>T (p.His99=) n.69+2111G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121925G>C | CA8368662 | HES7 | c.339C>G (p.His113Gln) c.324C>G (p.His108Gln) c.315C>G (p.His105Gln) c.444C>G (p.His148Gln) c.435C>G (p.His145Gln) c.426C>G (p.His142Gln) c.297C>G (p.His99Gln) n.69+2111G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121925G= | CA2246160693 | HES7 | c.339C= (p.His113=) c.324C= (p.His108=) c.315C= (p.His105=) c.444C= (p.His148=) c.435C= (p.His145=) c.426C= (p.His142=) c.297C= (p.His99=) n.69+2111G= | |
| 17 | g.8121925G>T | CA397988576 | HES7 | c.339C>A (p.His113Gln) c.324C>A (p.His108Gln) c.315C>A (p.His105Gln) c.444C>A (p.His148Gln) c.435C>A (p.His145Gln) c.426C>A (p.His142Gln) c.297C>A (p.His99Gln) n.69+2111G>T | gnomAD v4 |
| 17 | g.8121926T>A | CA397988578 | HES7 | c.338A>T (p.His113Leu) c.323A>T (p.His108Leu) c.314A>T (p.His105Leu) c.443A>T (p.His148Leu) c.434A>T (p.His145Leu) c.425A>T (p.His142Leu) c.296A>T (p.His99Leu) n.69+2112T>A | |
| 17 | g.8121926T>C | CA397988580 | HES7 | c.338A>G (p.His113Arg) c.323A>G (p.His108Arg) c.314A>G (p.His105Arg) c.443A>G (p.His148Arg) c.434A>G (p.His145Arg) c.425A>G (p.His142Arg) c.296A>G (p.His99Arg) n.69+2112T>C | gnomAD v4 |
| 17 | g.8121926T>G | CA397988581 | HES7 | c.338A>C (p.His113Pro) c.323A>C (p.His108Pro) c.314A>C (p.His105Pro) c.443A>C (p.His148Pro) c.434A>C (p.His145Pro) c.425A>C (p.His142Pro) c.296A>C (p.His99Pro) n.69+2112T>G | |
| 17 | g.8121927G>A | CA397988583 | HES7 | c.337C>T (p.His113Tyr) c.322C>T (p.His108Tyr) c.313C>T (p.His105Tyr) c.442C>T (p.His148Tyr) c.433C>T (p.His145Tyr) c.424C>T (p.His142Tyr) c.295C>T (p.His99Tyr) n.69+2113G>A | gnomAD v4 |
| 17 | g.8121927G>C | CA397988585 | HES7 | c.337C>G (p.His113Asp) c.322C>G (p.His108Asp) c.313C>G (p.His105Asp) c.442C>G (p.His148Asp) c.433C>G (p.His145Asp) c.424C>G (p.His142Asp) c.295C>G (p.His99Asp) n.69+2113G>C | gnomAD v4 |
| 17 | g.8121927G>T | CA397988587 | HES7 | c.337C>A (p.His113Asn) c.322C>A (p.His108Asn) c.313C>A (p.His105Asn) c.442C>A (p.His148Asn) c.433C>A (p.His145Asn) c.424C>A (p.His142Asn) c.295C>A (p.His99Asn) n.69+2113G>T | gnomAD v4 |
| 17 | g.8121928C>A | CA497955500 | HES7 | c.336G>T (p.Ala112=) c.321G>T (p.Ala107=) c.312G>T (p.Ala104=) c.441G>T (p.Ala147=) c.432G>T (p.Ala144=) c.423G>T (p.Ala141=) c.294G>T (p.Ala98=) n.69+2114C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121928C= | CA2246160697 | HES7 | c.336G= (p.Ala112=) c.321G= (p.Ala107=) c.312G= (p.Ala104=) c.441G= (p.Ala147=) c.432G= (p.Ala144=) c.423G= (p.Ala141=) c.294G= (p.Ala98=) n.69+2114C= | |
| 17 | g.8121928C>G | CA497955501 | HES7 | c.336G>C (p.Ala112=) c.321G>C (p.Ala107=) c.312G>C (p.Ala104=) c.441G>C (p.Ala147=) c.432G>C (p.Ala144=) c.423G>C (p.Ala141=) c.294G>C (p.Ala98=) n.69+2114C>G | gnomAD v4 |
| 17 | g.8121928C>T | CA497955502 | HES7 | c.336G>A (p.Ala112=) c.321G>A (p.Ala107=) c.312G>A (p.Ala104=) c.441G>A (p.Ala147=) c.432G>A (p.Ala144=) c.423G>A (p.Ala141=) c.294G>A (p.Ala98=) n.69+2114C>T | gnomAD v4 |
| 17 | g.8121929G>A | CA397988589 | HES7 | c.335C>T (p.Ala112Val) c.320C>T (p.Ala107Val) c.311C>T (p.Ala104Val) c.440C>T (p.Ala147Val) c.431C>T (p.Ala144Val) c.422C>T (p.Ala141Val) c.293C>T (p.Ala98Val) n.69+2115G>A | gnomAD v4 |
| 17 | g.8121929G>C | CA397988591 | HES7 | c.335C>G (p.Ala112Gly) c.320C>G (p.Ala107Gly) c.311C>G (p.Ala104Gly) c.440C>G (p.Ala147Gly) c.431C>G (p.Ala144Gly) c.422C>G (p.Ala141Gly) c.293C>G (p.Ala98Gly) n.69+2115G>C | |
| 17 | g.8121929G>T | CA397988593 | HES7 | c.335C>A (p.Ala112Glu) c.320C>A (p.Ala107Glu) c.311C>A (p.Ala104Glu) c.440C>A (p.Ala147Glu) c.431C>A (p.Ala144Glu) c.422C>A (p.Ala141Glu) c.293C>A (p.Ala98Glu) n.69+2115G>T | gnomAD v4 |
| 17 | g.8121930C>A | CA397988595 | HES7 | c.334G>T (p.Ala112Ser) c.319G>T (p.Ala107Ser) c.310G>T (p.Ala104Ser) c.439G>T (p.Ala147Ser) c.430G>T (p.Ala144Ser) c.421G>T (p.Ala141Ser) c.292G>T (p.Ala98Ser) n.69+2116C>A | gnomAD v4 |
| 17 | g.8121930C>G | CA397988596 | HES7 | c.334G>C (p.Ala112Pro) c.319G>C (p.Ala107Pro) c.310G>C (p.Ala104Pro) c.439G>C (p.Ala147Pro) c.430G>C (p.Ala144Pro) c.421G>C (p.Ala141Pro) c.292G>C (p.Ala98Pro) n.69+2116C>G | |
| 17 | g.8121930C>T | CA397988598 | HES7 | c.334G>A (p.Ala112Thr) c.319G>A (p.Ala107Thr) c.310G>A (p.Ala104Thr) c.439G>A (p.Ala147Thr) c.430G>A (p.Ala144Thr) c.421G>A (p.Ala141Thr) c.292G>A (p.Ala98Thr) n.69+2116C>T | gnomAD v4 |
| 17 | g.8121931G>A | CA497955503 | HES7 | c.333C>T (p.Phe111=) c.318C>T (p.Phe106=) c.309C>T (p.Phe103=) c.438C>T (p.Phe146=) c.429C>T (p.Phe143=) c.420C>T (p.Phe140=) c.291C>T (p.Phe97=) n.69+2117G>A | gnomAD v4 |
| 17 | g.8121931G>C | CA397988600 | HES7 | c.333C>G (p.Phe111Leu) c.318C>G (p.Phe106Leu) c.309C>G (p.Phe103Leu) c.438C>G (p.Phe146Leu) c.429C>G (p.Phe143Leu) c.420C>G (p.Phe140Leu) c.291C>G (p.Phe97Leu) n.69+2117G>C | gnomAD v4 |
| 17 | g.8121931G>T | CA397988601 | HES7 | c.333C>A (p.Phe111Leu) c.318C>A (p.Phe106Leu) c.309C>A (p.Phe103Leu) c.438C>A (p.Phe146Leu) c.429C>A (p.Phe143Leu) c.420C>A (p.Phe140Leu) c.291C>A (p.Phe97Leu) n.69+2117G>T | gnomAD v4 |
| 17 | g.8121932A>C | CA397988604 | HES7 | c.332T>G (p.Phe111Cys) c.317T>G (p.Phe106Cys) c.308T>G (p.Phe103Cys) c.437T>G (p.Phe146Cys) c.428T>G (p.Phe143Cys) c.419T>G (p.Phe140Cys) c.290T>G (p.Phe97Cys) n.69+2118A>C | |
| 17 | g.8121932A>G | CA397988607 | HES7 | c.332T>C (p.Phe111Ser) c.317T>C (p.Phe106Ser) c.308T>C (p.Phe103Ser) c.437T>C (p.Phe146Ser) c.428T>C (p.Phe143Ser) c.419T>C (p.Phe140Ser) c.290T>C (p.Phe97Ser) n.69+2118A>G | |
| 17 | g.8121932A>T | CA397988603 | HES7 | c.332T>A (p.Phe111Tyr) c.317T>A (p.Phe106Tyr) c.308T>A (p.Phe103Tyr) c.437T>A (p.Phe146Tyr) c.428T>A (p.Phe143Tyr) c.419T>A (p.Phe140Tyr) c.290T>A (p.Phe97Tyr) n.69+2118A>T | |
| 17 | g.8121933A>C | CA397988611 | HES7 | c.331T>G (p.Phe111Val) c.316T>G (p.Phe106Val) c.307T>G (p.Phe103Val) c.436T>G (p.Phe146Val) c.427T>G (p.Phe143Val) c.418T>G (p.Phe140Val) c.289T>G (p.Phe97Val) n.69+2119A>C | gnomAD v4 |
| 17 | g.8121933A>G | CA397988609 | HES7 | c.331T>C (p.Phe111Leu) c.316T>C (p.Phe106Leu) c.307T>C (p.Phe103Leu) c.436T>C (p.Phe146Leu) c.427T>C (p.Phe143Leu) c.418T>C (p.Phe140Leu) c.289T>C (p.Phe97Leu) n.69+2119A>G | gnomAD v4 |
| 17 | g.8121933A>T | CA397988613 | HES7 | c.331T>A (p.Phe111Ile) c.316T>A (p.Phe106Ile) c.307T>A (p.Phe103Ile) c.436T>A (p.Phe146Ile) c.427T>A (p.Phe143Ile) c.418T>A (p.Phe140Ile) c.289T>A (p.Phe97Ile) n.69+2119A>T | gnomAD v4 |
| 17 | g.8121934G>A | CA497955504 | HES7 | c.330C>T (p.Ala110=) c.315C>T (p.Ala105=) c.306C>T (p.Ala102=) c.435C>T (p.Ala145=) c.426C>T (p.Ala142=) c.417C>T (p.Ala139=) c.288C>T (p.Ala96=) n.69+2120G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121934G>C | CA497955505 | HES7 | c.330C>G (p.Ala110=) c.315C>G (p.Ala105=) c.306C>G (p.Ala102=) c.435C>G (p.Ala145=) c.426C>G (p.Ala142=) c.417C>G (p.Ala139=) c.288C>G (p.Ala96=) n.69+2120G>C | |
| 17 | g.8121934G= | CA2246160700 | HES7 | c.330C= (p.Ala110=) c.315C= (p.Ala105=) c.306C= (p.Ala102=) c.435C= (p.Ala145=) c.426C= (p.Ala142=) c.417C= (p.Ala139=) c.288C= (p.Ala96=) n.69+2120G= | |
| 17 | g.8121934G>T | CA497955506 | HES7 | c.330C>A (p.Ala110=) c.315C>A (p.Ala105=) c.306C>A (p.Ala102=) c.435C>A (p.Ala145=) c.426C>A (p.Ala142=) c.417C>A (p.Ala139=) c.288C>A (p.Ala96=) n.69+2120G>T | gnomAD v4 |
| 17 | g.8121935G>A | CA397988615 | HES7 | c.329C>T (p.Ala110Val) c.314C>T (p.Ala105Val) c.305C>T (p.Ala102Val) c.434C>T (p.Ala145Val) c.425C>T (p.Ala142Val) c.416C>T (p.Ala139Val) c.287C>T (p.Ala96Val) n.69+2121G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121935G>C | CA397988619 | HES7 | c.329C>G (p.Ala110Gly) c.314C>G (p.Ala105Gly) c.305C>G (p.Ala102Gly) c.434C>G (p.Ala145Gly) c.425C>G (p.Ala142Gly) c.416C>G (p.Ala139Gly) c.287C>G (p.Ala96Gly) n.69+2121G>C | |
| 17 | g.8121935G= | CA2246160701 | HES7 | c.329C= (p.Ala110=) c.314C= (p.Ala105=) c.305C= (p.Ala102=) c.434C= (p.Ala145=) c.425C= (p.Ala142=) c.416C= (p.Ala139=) c.287C= (p.Ala96=) n.69+2121G= | |
| 17 | g.8121935G>T | CA397988617 | HES7 | c.329C>A (p.Ala110Asp) c.314C>A (p.Ala105Asp) c.305C>A (p.Ala102Asp) c.434C>A (p.Ala145Asp) c.425C>A (p.Ala142Asp) c.416C>A (p.Ala139Asp) c.287C>A (p.Ala96Asp) n.69+2121G>T | gnomAD v4 |
| 17 | g.8121936C>A | CA397988621 | HES7 | c.328G>T (p.Ala110Ser) c.313G>T (p.Ala105Ser) c.304G>T (p.Ala102Ser) c.433G>T (p.Ala145Ser) c.424G>T (p.Ala142Ser) c.415G>T (p.Ala139Ser) c.286G>T (p.Ala96Ser) n.69+2122C>A | gnomAD v4 |
| 17 | g.8121936C= | CA2246160705 | HES7 | c.328G= (p.Ala110=) c.313G= (p.Ala105=) c.304G= (p.Ala102=) c.433G= (p.Ala145=) c.424G= (p.Ala142=) c.415G= (p.Ala139=) c.286G= (p.Ala96=) n.69+2122C= | |
| 17 | g.8121936C>G | CA397988625 | HES7 | c.328G>C (p.Ala110Pro) c.313G>C (p.Ala105Pro) c.304G>C (p.Ala102Pro) c.433G>C (p.Ala145Pro) c.424G>C (p.Ala142Pro) c.415G>C (p.Ala139Pro) c.286G>C (p.Ala96Pro) n.69+2122C>G | |
| 17 | g.8121936C>T | CA397988623 | HES7 | c.328G>A (p.Ala110Thr) c.313G>A (p.Ala105Thr) c.304G>A (p.Ala102Thr) c.433G>A (p.Ala145Thr) c.424G>A (p.Ala142Thr) c.415G>A (p.Ala139Thr) c.286G>A (p.Ala96Thr) n.69+2122C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121937C>A | CA497955507 | HES7 | c.327G>T (p.Ala109=) c.312G>T (p.Ala104=) c.303G>T (p.Ala101=) c.432G>T (p.Ala144=) c.423G>T (p.Ala141=) c.414G>T (p.Ala138=) c.285G>T (p.Ala95=) n.69+2123C>A | dbSNP gnomAD v4 |
| 17 | g.8121937C= | CA2246160707 | HES7 | c.327G= (p.Ala109=) c.312G= (p.Ala104=) c.303G= (p.Ala101=) c.432G= (p.Ala144=) c.423G= (p.Ala141=) c.414G= (p.Ala138=) c.285G= (p.Ala95=) n.69+2123C= | |
| 17 | g.8121937C>G | CA497955508 | HES7 | c.327G>C (p.Ala109=) c.312G>C (p.Ala104=) c.303G>C (p.Ala101=) c.432G>C (p.Ala144=) c.423G>C (p.Ala141=) c.414G>C (p.Ala138=) c.285G>C (p.Ala95=) n.69+2123C>G | |
| 17 | g.8121937C>T | CA497955509 | HES7 | c.327G>A (p.Ala109=) c.312G>A (p.Ala104=) c.303G>A (p.Ala101=) c.432G>A (p.Ala144=) c.423G>A (p.Ala141=) c.414G>A (p.Ala138=) c.285G>A (p.Ala95=) n.69+2123C>T | gnomAD v4 |
| 17 | g.8121938G>A | CA397988627 | HES7 | c.326C>T (p.Ala109Val) c.311C>T (p.Ala104Val) c.302C>T (p.Ala101Val) c.431C>T (p.Ala144Val) c.422C>T (p.Ala141Val) c.413C>T (p.Ala138Val) c.284C>T (p.Ala95Val) n.69+2124G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121938G>C | CA397988629 | HES7 | c.326C>G (p.Ala109Gly) c.311C>G (p.Ala104Gly) c.302C>G (p.Ala101Gly) c.431C>G (p.Ala144Gly) c.422C>G (p.Ala141Gly) c.413C>G (p.Ala138Gly) c.284C>G (p.Ala95Gly) n.69+2124G>C | |
| 17 | g.8121938G= | CA2246160710 | HES7 | c.326C= (p.Ala109=) c.311C= (p.Ala104=) c.302C= (p.Ala101=) c.431C= (p.Ala144=) c.422C= (p.Ala141=) c.413C= (p.Ala138=) c.284C= (p.Ala95=) n.69+2124G= | |
| 17 | g.8121938G>T | CA287537316 | HES7 | c.326C>A (p.Ala109Glu) c.311C>A (p.Ala104Glu) c.302C>A (p.Ala101Glu) c.431C>A (p.Ala144Glu) c.422C>A (p.Ala141Glu) c.413C>A (p.Ala138Glu) c.284C>A (p.Ala95Glu) n.69+2124G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121939C>A | CA397988632 | HES7 | c.325G>T (p.Ala109Ser) c.310G>T (p.Ala104Ser) c.301G>T (p.Ala101Ser) c.430G>T (p.Ala144Ser) c.421G>T (p.Ala141Ser) c.412G>T (p.Ala138Ser) c.283G>T (p.Ala95Ser) n.69+2125C>A | gnomAD v4 |
| 17 | g.8121939C>G | CA397988635 | HES7 | c.325G>C (p.Ala109Pro) c.310G>C (p.Ala104Pro) c.301G>C (p.Ala101Pro) c.430G>C (p.Ala144Pro) c.421G>C (p.Ala141Pro) c.412G>C (p.Ala138Pro) c.283G>C (p.Ala95Pro) n.69+2125C>G | |
| 17 | g.8121939C>T | CA397988633 | HES7 | c.325G>A (p.Ala109Thr) c.310G>A (p.Ala104Thr) c.301G>A (p.Ala101Thr) c.430G>A (p.Ala144Thr) c.421G>A (p.Ala141Thr) c.412G>A (p.Ala138Thr) c.283G>A (p.Ala95Thr) n.69+2125C>T | gnomAD v4 |
| 17 | g.8121940C>A | CA397988637 | HES7 | c.324G>T (p.Leu108Phe) c.309G>T (p.Leu103Phe) c.300G>T (p.Leu100Phe) c.429G>T (p.Leu143Phe) c.420G>T (p.Leu140Phe) c.411G>T (p.Leu137Phe) c.282G>T (p.Leu94Phe) n.69+2126C>A | gnomAD v4 |
| 17 | g.8121940C= | CA2246160736 | HES7 | c.324G= (p.Leu108=) c.309G= (p.Leu103=) c.300G= (p.Leu100=) c.429G= (p.Leu143=) c.420G= (p.Leu140=) c.411G= (p.Leu137=) c.282G= (p.Leu94=) n.69+2126C= | |
| 17 | g.8121940C>G | CA397988639 | HES7 | c.324G>C (p.Leu108Phe) c.309G>C (p.Leu103Phe) c.300G>C (p.Leu100Phe) c.429G>C (p.Leu143Phe) c.420G>C (p.Leu140Phe) c.411G>C (p.Leu137Phe) c.282G>C (p.Leu94Phe) n.69+2126C>G | |
| 17 | g.8121940C>T | CA497955510 | HES7 | c.324G>A (p.Leu108=) c.309G>A (p.Leu103=) c.300G>A (p.Leu100=) c.429G>A (p.Leu143=) c.420G>A (p.Leu140=) c.411G>A (p.Leu137=) c.282G>A (p.Leu94=) n.69+2126C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121941A>C | CA397988642 | HES7 | c.323T>G (p.Leu108Trp) c.308T>G (p.Leu103Trp) c.299T>G (p.Leu100Trp) c.428T>G (p.Leu143Trp) c.419T>G (p.Leu140Trp) c.410T>G (p.Leu137Trp) c.281T>G (p.Leu94Trp) n.69+2127A>C | |
| 17 | g.8121941A>G | CA397988644 | HES7 | c.323T>C (p.Leu108Ser) c.308T>C (p.Leu103Ser) c.299T>C (p.Leu100Ser) c.428T>C (p.Leu143Ser) c.419T>C (p.Leu140Ser) c.410T>C (p.Leu137Ser) c.281T>C (p.Leu94Ser) n.69+2127A>G | |
| 17 | g.8121941A>T | CA397988646 | HES7 | c.323T>A (p.Leu108Ter) c.308T>A (p.Leu103Ter) c.299T>A (p.Leu100Ter) c.428T>A (p.Leu143Ter) c.419T>A (p.Leu140Ter) c.410T>A (p.Leu137Ter) c.281T>A (p.Leu94Ter) n.69+2127A>T | |
| 17 | g.8121942A>C | CA397988648 | HES7 | c.322T>G (p.Leu108Val) c.307T>G (p.Leu103Val) c.298T>G (p.Leu100Val) c.427T>G (p.Leu143Val) c.418T>G (p.Leu140Val) c.409T>G (p.Leu137Val) c.280T>G (p.Leu94Val) n.69+2128A>C | |
| 17 | g.8121942A>G | CA497955511 | HES7 | c.322T>C (p.Leu108=) c.307T>C (p.Leu103=) c.298T>C (p.Leu100=) c.427T>C (p.Leu143=) c.418T>C (p.Leu140=) c.409T>C (p.Leu137=) c.280T>C (p.Leu94=) n.69+2128A>G | gnomAD v4 |
| 17 | g.8121942A>T | CA397988650 | HES7 | c.322T>A (p.Leu108Met) c.307T>A (p.Leu103Met) c.298T>A (p.Leu100Met) c.427T>A (p.Leu143Met) c.418T>A (p.Leu140Met) c.409T>A (p.Leu137Met) c.280T>A (p.Leu94Met) n.69+2128A>T | |
| 17 | g.8121943G>A | CA497955512 | HES7 | c.321C>T (p.Arg107=) c.306C>T (p.Arg102=) c.297C>T (p.Arg99=) c.426C>T (p.Arg142=) c.417C>T (p.Arg139=) c.408C>T (p.Arg136=) c.279C>T (p.Arg93=) n.69+2129G>A | gnomAD v4 |
| 17 | g.8121943G>C | CA497955513 | HES7 | c.321C>G (p.Arg107=) c.306C>G (p.Arg102=) c.297C>G (p.Arg99=) c.426C>G (p.Arg142=) c.417C>G (p.Arg139=) c.408C>G (p.Arg136=) c.279C>G (p.Arg93=) n.69+2129G>C | |
| 17 | g.8121943G>T | CA497955514 | HES7 | c.321C>A (p.Arg107=) c.306C>A (p.Arg102=) c.297C>A (p.Arg99=) c.426C>A (p.Arg142=) c.417C>A (p.Arg139=) c.408C>A (p.Arg136=) c.279C>A (p.Arg93=) n.69+2129G>T | gnomAD v4 |
| 17 | g.8121944C>A | CA397988651 | HES7 | c.320G>T (p.Arg107Leu) c.305G>T (p.Arg102Leu) c.296G>T (p.Arg99Leu) c.425G>T (p.Arg142Leu) c.416G>T (p.Arg139Leu) c.407G>T (p.Arg136Leu) c.278G>T (p.Arg93Leu) n.69+2130C>A | gnomAD v4 |
| 17 | g.8121944C= | CA2246160743 | HES7 | c.320G= (p.Arg107=) c.305G= (p.Arg102=) c.296G= (p.Arg99=) c.425G= (p.Arg142=) c.416G= (p.Arg139=) c.407G= (p.Arg136=) c.278G= (p.Arg93=) n.69+2130C= | |
| 17 | g.8121944C>G | CA397988656 | HES7 | c.320G>C (p.Arg107Pro) c.305G>C (p.Arg102Pro) c.296G>C (p.Arg99Pro) c.425G>C (p.Arg142Pro) c.416G>C (p.Arg139Pro) c.407G>C (p.Arg136Pro) c.278G>C (p.Arg93Pro) n.69+2130C>G | dbSNP |
| 17 | g.8121944C>T | CA397988657 | HES7 | c.320G>A (p.Arg107His) c.305G>A (p.Arg102His) c.296G>A (p.Arg99His) c.425G>A (p.Arg142His) c.416G>A (p.Arg139His) c.407G>A (p.Arg136His) c.278G>A (p.Arg93His) n.69+2130C>T | gnomAD v4 |
| 17 | g.8121945G>A | CA8368663 | HES7 | c.319C>T (p.Arg107Cys) c.304C>T (p.Arg102Cys) c.295C>T (p.Arg99Cys) c.424C>T (p.Arg142Cys) c.415C>T (p.Arg139Cys) c.406C>T (p.Arg136Cys) c.277C>T (p.Arg93Cys) n.69+2131G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121945G>C | CA397988659 | HES7 | c.319C>G (p.Arg107Gly) c.304C>G (p.Arg102Gly) c.295C>G (p.Arg99Gly) c.424C>G (p.Arg142Gly) c.415C>G (p.Arg139Gly) c.406C>G (p.Arg136Gly) c.277C>G (p.Arg93Gly) n.69+2131G>C | |
| 17 | g.8121945G= | CA2246160747 | HES7 | c.319C= (p.Arg107=) c.304C= (p.Arg102=) c.295C= (p.Arg99=) c.424C= (p.Arg142=) c.415C= (p.Arg139=) c.406C= (p.Arg136=) c.277C= (p.Arg93=) n.69+2131G= | |
| 17 | g.8121945G>T | CA397988661 | HES7 | c.319C>A (p.Arg107Ser) c.304C>A (p.Arg102Ser) c.295C>A (p.Arg99Ser) c.424C>A (p.Arg142Ser) c.415C>A (p.Arg139Ser) c.406C>A (p.Arg136Ser) c.277C>A (p.Arg93Ser) n.69+2131G>T | gnomAD v4 |
| 17 | g.8121946A>C | CA497955515 | HES7 | c.318T>G (p.Leu106=) c.303T>G (p.Leu101=) c.294T>G (p.Leu98=) c.423T>G (p.Leu141=) c.414T>G (p.Leu138=) c.405T>G (p.Leu135=) c.276T>G (p.Leu92=) n.69+2132A>C | |
| 17 | g.8121946A>G | CA497955516 | HES7 | c.318T>C (p.Leu106=) c.303T>C (p.Leu101=) c.294T>C (p.Leu98=) c.423T>C (p.Leu141=) c.414T>C (p.Leu138=) c.405T>C (p.Leu135=) c.276T>C (p.Leu92=) n.69+2132A>G | gnomAD v4 |
| 17 | g.8121946A>T | CA497955517 | HES7 | c.318T>A (p.Leu106=) c.303T>A (p.Leu101=) c.294T>A (p.Leu98=) c.423T>A (p.Leu141=) c.414T>A (p.Leu138=) c.405T>A (p.Leu135=) c.276T>A (p.Leu92=) n.69+2132A>T | |
| 17 | g.8121947A>C | CA397988663 | HES7 | c.317T>G (p.Leu106Arg) c.302T>G (p.Leu101Arg) c.293T>G (p.Leu98Arg) c.422T>G (p.Leu141Arg) c.413T>G (p.Leu138Arg) c.404T>G (p.Leu135Arg) c.275T>G (p.Leu92Arg) n.69+2133A>C | |
| 17 | g.8121947A>G | CA397988667 | HES7 | c.317T>C (p.Leu106Pro) c.302T>C (p.Leu101Pro) c.293T>C (p.Leu98Pro) c.422T>C (p.Leu141Pro) c.413T>C (p.Leu138Pro) c.404T>C (p.Leu135Pro) c.275T>C (p.Leu92Pro) n.69+2133A>G | gnomAD v4 |
| 17 | g.8121947A>T | CA397988665 | HES7 | c.317T>A (p.Leu106His) c.302T>A (p.Leu101His) c.293T>A (p.Leu98His) c.422T>A (p.Leu141His) c.413T>A (p.Leu138His) c.404T>A (p.Leu135His) c.275T>A (p.Leu92His) n.69+2133A>T | gnomAD v4 |
| 17 | g.8121948G>A | CA397988670 | HES7 | c.316C>T (p.Leu106Phe) c.301C>T (p.Leu101Phe) c.292C>T (p.Leu98Phe) c.421C>T (p.Leu141Phe) c.412C>T (p.Leu138Phe) c.403C>T (p.Leu135Phe) c.274C>T (p.Leu92Phe) n.69+2134G>A | gnomAD v4 |
| 17 | g.8121948G>C | CA397988671 | HES7 | c.316C>G (p.Leu106Val) c.301C>G (p.Leu101Val) c.292C>G (p.Leu98Val) c.421C>G (p.Leu141Val) c.412C>G (p.Leu138Val) c.403C>G (p.Leu135Val) c.274C>G (p.Leu92Val) n.69+2134G>C | |
| 17 | g.8121948G>T | CA397988673 | HES7 | c.316C>A (p.Leu106Ile) c.301C>A (p.Leu101Ile) c.292C>A (p.Leu98Ile) c.421C>A (p.Leu141Ile) c.412C>A (p.Leu138Ile) c.403C>A (p.Leu135Ile) c.274C>A (p.Leu92Ile) n.69+2134G>T | gnomAD v4 |
| 17 | g.8121949C>A | CA497955260 | HES7 | c.315G>T (p.Leu105=) c.300G>T (p.Leu100=) c.291G>T (p.Leu97=) c.420G>T (p.Leu140=) c.411G>T (p.Leu137=) c.402G>T (p.Leu134=) c.273G>T (p.Leu91=) n.69+2135C>A | gnomAD v4 |
| 17 | g.8121949C>G | CA497955262 | HES7 | c.315G>C (p.Leu105=) c.300G>C (p.Leu100=) c.291G>C (p.Leu97=) c.420G>C (p.Leu140=) c.411G>C (p.Leu137=) c.402G>C (p.Leu134=) c.273G>C (p.Leu91=) n.69+2135C>G | gnomAD v4 |
| 17 | g.8121949C>T | CA497955263 | HES7 | c.315G>A (p.Leu105=) c.300G>A (p.Leu100=) c.291G>A (p.Leu97=) c.420G>A (p.Leu140=) c.411G>A (p.Leu137=) c.402G>A (p.Leu134=) c.273G>A (p.Leu91=) n.69+2135C>T | gnomAD v4 |
| 17 | g.8121950A= | CA2246160752 | HES7 | c.314T= (p.Leu105=) c.299T= (p.Leu100=) c.290T= (p.Leu97=) c.419T= (p.Leu140=) c.410T= (p.Leu137=) c.401T= (p.Leu134=) c.272T= (p.Leu91=) n.69+2136A= | |
| 17 | g.8121950A>C | CA397988677 | HES7 | c.314T>G (p.Leu105Arg) c.299T>G (p.Leu100Arg) c.290T>G (p.Leu97Arg) c.419T>G (p.Leu140Arg) c.410T>G (p.Leu137Arg) c.401T>G (p.Leu134Arg) c.272T>G (p.Leu91Arg) n.69+2136A>C | |
| 17 | g.8121950A>G | CA397988680 | HES7 | c.314T>C (p.Leu105Pro) c.299T>C (p.Leu100Pro) c.290T>C (p.Leu97Pro) c.419T>C (p.Leu140Pro) c.410T>C (p.Leu137Pro) c.401T>C (p.Leu134Pro) c.272T>C (p.Leu91Pro) n.69+2136A>G | dbSNP gnomAD v4 |
| 17 | g.8121950A>T | CA397988682 | HES7 | c.314T>A (p.Leu105Gln) c.299T>A (p.Leu100Gln) c.290T>A (p.Leu97Gln) c.419T>A (p.Leu140Gln) c.410T>A (p.Leu137Gln) c.401T>A (p.Leu134Gln) c.272T>A (p.Leu91Gln) n.69+2136A>T | gnomAD v4 |
| 17 | g.8121951G>A | CA497955266 | HES7 | c.313C>T (p.Leu105=) c.298C>T (p.Leu100=) c.289C>T (p.Leu97=) c.418C>T (p.Leu140=) c.409C>T (p.Leu137=) c.400C>T (p.Leu134=) c.271C>T (p.Leu91=) n.69+2137G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121951G>C | CA397988684 | HES7 | c.313C>G (p.Leu105Val) c.298C>G (p.Leu100Val) c.289C>G (p.Leu97Val) c.418C>G (p.Leu140Val) c.409C>G (p.Leu137Val) c.400C>G (p.Leu134Val) c.271C>G (p.Leu91Val) n.69+2137G>C | gnomAD v4 |
| 17 | g.8121951G= | CA2246160757 | HES7 | c.313C= (p.Leu105=) c.298C= (p.Leu100=) c.289C= (p.Leu97=) c.418C= (p.Leu140=) c.409C= (p.Leu137=) c.400C= (p.Leu134=) c.271C= (p.Leu91=) n.69+2137G= | |
| 17 | g.8121951G>T | CA397988686 | HES7 | c.313C>A (p.Leu105Met) c.298C>A (p.Leu100Met) c.289C>A (p.Leu97Met) c.418C>A (p.Leu140Met) c.409C>A (p.Leu137Met) c.400C>A (p.Leu134Met) c.271C>A (p.Leu91Met) n.69+2137G>T | gnomAD v4 |
| 17 | g.8121952G>A | CA497955267 | HES7 | c.312C>T (p.Cys104=) c.297C>T (p.Cys99=) c.288C>T (p.Cys96=) c.417C>T (p.Cys139=) c.408C>T (p.Cys136=) c.399C>T (p.Cys133=) c.270C>T (p.Cys90=) n.69+2138G>A | gnomAD v4 |
| 17 | g.8121952G>C | CA397988688 | HES7 | c.312C>G (p.Cys104Trp) c.297C>G (p.Cys99Trp) c.288C>G (p.Cys96Trp) c.417C>G (p.Cys139Trp) c.408C>G (p.Cys136Trp) c.399C>G (p.Cys133Trp) c.270C>G (p.Cys90Trp) n.69+2138G>C | |
| 17 | g.8121952G= | CA2246160763 | HES7 | c.312C= (p.Cys104=) c.297C= (p.Cys99=) c.288C= (p.Cys96=) c.417C= (p.Cys139=) c.408C= (p.Cys136=) c.399C= (p.Cys133=) c.270C= (p.Cys90=) n.69+2138G= | |
| 17 | g.8121952G>T | CA397988689 | HES7 | c.312C>A (p.Cys104Ter) c.297C>A (p.Cys99Ter) c.288C>A (p.Cys96Ter) c.417C>A (p.Cys139Ter) c.408C>A (p.Cys136Ter) c.399C>A (p.Cys133Ter) c.270C>A (p.Cys90Ter) n.69+2138G>T | dbSNP gnomAD v4 |
| 17 | g.8121953C>A | CA397988694 | HES7 | c.311G>T (p.Cys104Phe) c.296G>T (p.Cys99Phe) c.287G>T (p.Cys96Phe) c.416G>T (p.Cys139Phe) c.407G>T (p.Cys136Phe) c.398G>T (p.Cys133Phe) c.269G>T (p.Cys90Phe) n.69+2139C>A | gnomAD v4 |
| 17 | g.8121953C>G | CA397988692 | HES7 | c.311G>C (p.Cys104Ser) c.296G>C (p.Cys99Ser) c.287G>C (p.Cys96Ser) c.416G>C (p.Cys139Ser) c.407G>C (p.Cys136Ser) c.398G>C (p.Cys133Ser) c.269G>C (p.Cys90Ser) n.69+2139C>G | |
| 17 | g.8121953C>T | CA397988690 | HES7 | c.311G>A (p.Cys104Tyr) c.296G>A (p.Cys99Tyr) c.287G>A (p.Cys96Tyr) c.416G>A (p.Cys139Tyr) c.407G>A (p.Cys136Tyr) c.398G>A (p.Cys133Tyr) c.269G>A (p.Cys90Tyr) n.69+2139C>T | gnomAD v4 |
| 17 | g.8121954A>C | CA397988700 | HES7 | c.310T>G (p.Cys104Gly) c.295T>G (p.Cys99Gly) c.286T>G (p.Cys96Gly) c.415T>G (p.Cys139Gly) c.406T>G (p.Cys136Gly) c.397T>G (p.Cys133Gly) c.268T>G (p.Cys90Gly) n.69+2140A>C | |
| 17 | g.8121954A>G | CA397988696 | HES7 | c.310T>C (p.Cys104Arg) c.295T>C (p.Cys99Arg) c.286T>C (p.Cys96Arg) c.415T>C (p.Cys139Arg) c.406T>C (p.Cys136Arg) c.397T>C (p.Cys133Arg) c.268T>C (p.Cys90Arg) n.69+2140A>G | |
| 17 | g.8121954A>T | CA397988698 | HES7 | c.310T>A (p.Cys104Ser) c.295T>A (p.Cys99Ser) c.286T>A (p.Cys96Ser) c.415T>A (p.Cys139Ser) c.406T>A (p.Cys136Ser) c.397T>A (p.Cys133Ser) c.268T>A (p.Cys90Ser) n.69+2140A>T | |
| 17 | g.8121955C>A | CA8368664 | HES7 | c.309G>T (p.Glu103Asp) c.294G>T (p.Glu98Asp) c.285G>T (p.Glu95Asp) c.414G>T (p.Glu138Asp) c.405G>T (p.Glu135Asp) c.396G>T (p.Glu132Asp) c.267G>T (p.Glu89Asp) n.69+2141C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121955C= | CA2246160771 | HES7 | c.309G= (p.Glu103=) c.294G= (p.Glu98=) c.285G= (p.Glu95=) c.414G= (p.Glu138=) c.405G= (p.Glu135=) c.396G= (p.Glu132=) c.267G= (p.Glu89=) n.69+2141C= | |
| 17 | g.8121955C>G | CA397988703 | HES7 | c.309G>C (p.Glu103Asp) c.294G>C (p.Glu98Asp) c.285G>C (p.Glu95Asp) c.414G>C (p.Glu138Asp) c.405G>C (p.Glu135Asp) c.396G>C (p.Glu132Asp) c.267G>C (p.Glu89Asp) n.69+2141C>G | |
| 17 | g.8121955C>T | CA497955280 | HES7 | c.309G>A (p.Glu103=) c.294G>A (p.Glu98=) c.285G>A (p.Glu95=) c.414G>A (p.Glu138=) c.405G>A (p.Glu135=) c.396G>A (p.Glu132=) c.267G>A (p.Glu89=) n.69+2141C>T | gnomAD v4 |
| 17 | g.8121956T>A | CA397988704 | HES7 | c.308A>T (p.Glu103Val) c.293A>T (p.Glu98Val) c.284A>T (p.Glu95Val) c.413A>T (p.Glu138Val) c.404A>T (p.Glu135Val) c.395A>T (p.Glu132Val) c.266A>T (p.Glu89Val) n.69+2142T>A | |
| 17 | g.8121956T>C | CA397988706 | HES7 | c.308A>G (p.Glu103Gly) c.293A>G (p.Glu98Gly) c.284A>G (p.Glu95Gly) c.413A>G (p.Glu138Gly) c.404A>G (p.Glu135Gly) c.395A>G (p.Glu132Gly) c.266A>G (p.Glu89Gly) n.69+2142T>C | |
| 17 | g.8121956T>G | CA397988708 | HES7 | c.308A>C (p.Glu103Ala) c.293A>C (p.Glu98Ala) c.284A>C (p.Glu95Ala) c.413A>C (p.Glu138Ala) c.404A>C (p.Glu135Ala) c.395A>C (p.Glu132Ala) c.266A>C (p.Glu89Ala) n.69+2142T>G | |
| 17 | g.8121957C>A | CA397988710 | HES7 | c.307G>T (p.Glu103Ter) c.292G>T (p.Glu98Ter) c.283G>T (p.Glu95Ter) c.412G>T (p.Glu138Ter) c.403G>T (p.Glu135Ter) c.394G>T (p.Glu132Ter) c.265G>T (p.Glu89Ter) n.69+2143C>A | gnomAD v4 |
| 17 | g.8121957C>G | CA397988713 | HES7 | c.307G>C (p.Glu103Gln) c.292G>C (p.Glu98Gln) c.283G>C (p.Glu95Gln) c.412G>C (p.Glu138Gln) c.403G>C (p.Glu135Gln) c.394G>C (p.Glu132Gln) c.265G>C (p.Glu89Gln) n.69+2143C>G | gnomAD v4 |
| 17 | g.8121957C>T | CA397988712 | HES7 | c.307G>A (p.Glu103Lys) c.292G>A (p.Glu98Lys) c.283G>A (p.Glu95Lys) c.412G>A (p.Glu138Lys) c.403G>A (p.Glu135Lys) c.394G>A (p.Glu132Lys) c.265G>A (p.Glu89Lys) n.69+2143C>T | gnomAD v4 COSMIC |
| 17 | g.8121958G>A | CA497955285 | HES7 | c.306C>T (p.Arg102=) c.291C>T (p.Arg97=) c.282C>T (p.Arg94=) c.411C>T (p.Arg137=) c.402C>T (p.Arg134=) c.393C>T (p.Arg131=) c.264C>T (p.Arg88=) n.69+2144G>A | |
| 17 | g.8121958G>C | CA497955286 | HES7 | c.306C>G (p.Arg102=) c.291C>G (p.Arg97=) c.282C>G (p.Arg94=) c.411C>G (p.Arg137=) c.402C>G (p.Arg134=) c.393C>G (p.Arg131=) c.264C>G (p.Arg88=) n.69+2144G>C | |
| 17 | g.8121958G= | CA2246160777 | HES7 | c.306C= (p.Arg102=) c.291C= (p.Arg97=) c.282C= (p.Arg94=) c.411C= (p.Arg137=) c.402C= (p.Arg134=) c.393C= (p.Arg131=) c.264C= (p.Arg88=) n.69+2144G= | |
| 17 | g.8121958G>T | CA8368665 | HES7 | c.306C>A (p.Arg102=) c.291C>A (p.Arg97=) c.282C>A (p.Arg94=) c.411C>A (p.Arg137=) c.402C>A (p.Arg134=) c.393C>A (p.Arg131=) c.264C>A (p.Arg88=) n.69+2144G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121959C>A | CA397988718 | HES7 | c.305G>T (p.Arg102Leu) c.290G>T (p.Arg97Leu) c.281G>T (p.Arg94Leu) c.410G>T (p.Arg137Leu) c.401G>T (p.Arg134Leu) c.392G>T (p.Arg131Leu) c.263G>T (p.Arg88Leu) n.69+2145C>A | gnomAD v4 |
| 17 | g.8121959C= | CA2246160780 | HES7 | c.305G= (p.Arg102=) c.290G= (p.Arg97=) c.281G= (p.Arg94=) c.410G= (p.Arg137=) c.401G= (p.Arg134=) c.392G= (p.Arg131=) c.263G= (p.Arg88=) n.69+2145C= | |
| 17 | g.8121959C>G | CA397988720 | HES7 | c.305G>C (p.Arg102Pro) c.290G>C (p.Arg97Pro) c.281G>C (p.Arg94Pro) c.410G>C (p.Arg137Pro) c.401G>C (p.Arg134Pro) c.392G>C (p.Arg131Pro) c.263G>C (p.Arg88Pro) n.69+2145C>G | gnomAD v4 |
| 17 | g.8121959C>T | CA397988723 | HES7 | c.305G>A (p.Arg102His) c.290G>A (p.Arg97His) c.281G>A (p.Arg94His) c.410G>A (p.Arg137His) c.401G>A (p.Arg134His) c.392G>A (p.Arg131His) c.263G>A (p.Arg88His) n.69+2145C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121960G>A | CA397988726 | HES7 | c.304C>T (p.Arg102Cys) c.289C>T (p.Arg97Cys) c.280C>T (p.Arg94Cys) c.409C>T (p.Arg137Cys) c.400C>T (p.Arg134Cys) c.391C>T (p.Arg131Cys) c.262C>T (p.Arg88Cys) n.69+2146G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121960G>C | CA397988735 | HES7 | c.304C>G (p.Arg102Gly) c.289C>G (p.Arg97Gly) c.280C>G (p.Arg94Gly) c.409C>G (p.Arg137Gly) c.400C>G (p.Arg134Gly) c.391C>G (p.Arg131Gly) c.262C>G (p.Arg88Gly) n.69+2146G>C | |
| 17 | g.8121960G= | CA2246160783 | HES7 | c.304C= (p.Arg102=) c.289C= (p.Arg97=) c.280C= (p.Arg94=) c.409C= (p.Arg137=) c.400C= (p.Arg134=) c.391C= (p.Arg131=) c.262C= (p.Arg88=) n.69+2146G= | |
| 17 | g.8121960G>T | CA397988733 | HES7 | c.304C>A (p.Arg102Ser) c.289C>A (p.Arg97Ser) c.280C>A (p.Arg94Ser) c.409C>A (p.Arg137Ser) c.400C>A (p.Arg134Ser) c.391C>A (p.Arg131Ser) c.262C>A (p.Arg88Ser) n.69+2146G>T | gnomAD v4 |
| 17 | g.8121961G>A | CA497955289 | HES7 | c.303C>T (p.Phe101=) c.288C>T (p.Phe96=) c.279C>T (p.Phe93=) c.408C>T (p.Phe136=) c.399C>T (p.Phe133=) c.390C>T (p.Phe130=) c.261C>T (p.Phe87=) n.69+2147G>A | gnomAD v4 |
| 17 | g.8121961G>C | CA397988737 | HES7 | c.303C>G (p.Phe101Leu) c.288C>G (p.Phe96Leu) c.279C>G (p.Phe93Leu) c.408C>G (p.Phe136Leu) c.399C>G (p.Phe133Leu) c.390C>G (p.Phe130Leu) c.261C>G (p.Phe87Leu) n.69+2147G>C | |
| 17 | g.8121961G>T | CA397988738 | HES7 | c.303C>A (p.Phe101Leu) c.288C>A (p.Phe96Leu) c.279C>A (p.Phe93Leu) c.408C>A (p.Phe136Leu) c.399C>A (p.Phe133Leu) c.390C>A (p.Phe130Leu) c.261C>A (p.Phe87Leu) n.69+2147G>T | |
| 17 | g.8121962A= | CA2246160787 | HES7 | c.302T= (p.Phe101=) c.287T= (p.Phe96=) c.278T= (p.Phe93=) c.407T= (p.Phe136=) c.398T= (p.Phe133=) c.389T= (p.Phe130=) c.260T= (p.Phe87=) n.69+2148A= | |
| 17 | g.8121962A>C | CA397988741 | HES7 | c.302T>G (p.Phe101Cys) c.287T>G (p.Phe96Cys) c.278T>G (p.Phe93Cys) c.407T>G (p.Phe136Cys) c.398T>G (p.Phe133Cys) c.389T>G (p.Phe130Cys) c.260T>G (p.Phe87Cys) n.69+2148A>C | |
| 17 | g.8121962A>G | CA397988742 | HES7 | c.302T>C (p.Phe101Ser) c.287T>C (p.Phe96Ser) c.278T>C (p.Phe93Ser) c.407T>C (p.Phe136Ser) c.398T>C (p.Phe133Ser) c.389T>C (p.Phe130Ser) c.260T>C (p.Phe87Ser) n.69+2148A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121962A>T | CA397988744 | HES7 | c.302T>A (p.Phe101Tyr) c.287T>A (p.Phe96Tyr) c.278T>A (p.Phe93Tyr) c.407T>A (p.Phe136Tyr) c.398T>A (p.Phe133Tyr) c.389T>A (p.Phe130Tyr) c.260T>A (p.Phe87Tyr) n.69+2148A>T | |
| 17 | g.8121963A>C | CA397988747 | HES7 | c.301T>G (p.Phe101Val) c.286T>G (p.Phe96Val) c.277T>G (p.Phe93Val) c.406T>G (p.Phe136Val) c.397T>G (p.Phe133Val) c.388T>G (p.Phe130Val) c.259T>G (p.Phe87Val) n.69+2149A>C | |
| 17 | g.8121963A>G | CA397988750 | HES7 | c.301T>C (p.Phe101Leu) c.286T>C (p.Phe96Leu) c.277T>C (p.Phe93Leu) c.406T>C (p.Phe136Leu) c.397T>C (p.Phe133Leu) c.388T>C (p.Phe130Leu) c.259T>C (p.Phe87Leu) n.69+2149A>G | |
| 17 | g.8121963A>T | CA397988752 | HES7 | c.301T>A (p.Phe101Ile) c.286T>A (p.Phe96Ile) c.277T>A (p.Phe93Ile) c.406T>A (p.Phe136Ile) c.397T>A (p.Phe133Ile) c.388T>A (p.Phe130Ile) c.259T>A (p.Phe87Ile) n.69+2149A>T | |
| 17 | g.8121964A>C | CA497955299 | HES7 | c.300T>G (p.Gly100=) c.285T>G (p.Gly95=) c.276T>G (p.Gly92=) c.405T>G (p.Gly135=) c.396T>G (p.Gly132=) c.387T>G (p.Gly129=) c.258T>G (p.Gly86=) n.69+2150A>C | |
| 17 | g.8121964A>G | CA497955303 | HES7 | c.300T>C (p.Gly100=) c.285T>C (p.Gly95=) c.276T>C (p.Gly92=) c.405T>C (p.Gly135=) c.396T>C (p.Gly132=) c.387T>C (p.Gly129=) c.258T>C (p.Gly86=) n.69+2150A>G | |
| 17 | g.8121964A>T | CA497955300 | HES7 | c.300T>A (p.Gly100=) c.285T>A (p.Gly95=) c.276T>A (p.Gly92=) c.405T>A (p.Gly135=) c.396T>A (p.Gly132=) c.387T>A (p.Gly129=) c.258T>A (p.Gly86=) n.69+2150A>T | |
| 17 | g.8121964_8121965delinsAC | CA2246160790 | HES7 | c.299_300delinsGT (p.Gly100=) c.284_285delinsGT (p.Gly95=) c.275_276delinsGT (p.Gly92=) c.404_405delinsGT (p.Gly135=) c.395_396delinsGT (p.Gly132=) c.386_387delinsGT (p.Gly129=) c.257_258delinsGT (p.Gly86=) n.69+2150_69+2151delinsAC | |
| 17 | g.8121965C>A | CA397988754 | HES7 | c.299G>T (p.Gly100Val) c.284G>T (p.Gly95Val) c.275G>T (p.Gly92Val) c.404G>T (p.Gly135Val) c.395G>T (p.Gly132Val) c.386G>T (p.Gly129Val) c.257G>T (p.Gly86Val) n.69+2151C>A | |
| 17 | g.8121965C>G | CA397988756 | HES7 | c.299G>C (p.Gly100Ala) c.284G>C (p.Gly95Ala) c.275G>C (p.Gly92Ala) c.404G>C (p.Gly135Ala) c.395G>C (p.Gly132Ala) c.386G>C (p.Gly129Ala) c.257G>C (p.Gly86Ala) n.69+2151C>G | |
| 17 | g.8121965C>T | CA397988759 | HES7 | c.299G>A (p.Gly100Asp) c.284G>A (p.Gly95Asp) c.275G>A (p.Gly92Asp) c.404G>A (p.Gly135Asp) c.395G>A (p.Gly132Asp) c.386G>A (p.Gly129Asp) c.257G>A (p.Gly86Asp) n.69+2151C>T | gnomAD v4 |
| 17 | g.8121966del | CA624868619 | HES7 | c.299del (p.Gly100ValfsTer?) c.284del (p.Gly95ValfsTer?) c.275del (p.Gly92ValfsTer?) c.404del (p.Gly135ValfsTer?) c.395del (p.Gly132ValfsTer?) c.386del (p.Gly129ValfsTer?) c.257del (p.Gly86ValfsTer?) n.69+2152del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121966C>A | CA397988764 | HES7 | c.298G>T (p.Gly100Cys) c.283G>T (p.Gly95Cys) c.274G>T (p.Gly92Cys) c.403G>T (p.Gly135Cys) c.394G>T (p.Gly132Cys) c.385G>T (p.Gly129Cys) c.256G>T (p.Gly86Cys) n.69+2152C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121966C= | CA2246160793 | HES7 | c.298G= (p.Gly100=) c.283G= (p.Gly95=) c.274G= (p.Gly92=) c.403G= (p.Gly135=) c.394G= (p.Gly132=) c.385G= (p.Gly129=) c.256G= (p.Gly86=) n.69+2152C= | |
| 17 | g.8121966C>G | CA397988767 | HES7 | c.298G>C (p.Gly100Arg) c.283G>C (p.Gly95Arg) c.274G>C (p.Gly92Arg) c.403G>C (p.Gly135Arg) c.394G>C (p.Gly132Arg) c.385G>C (p.Gly129Arg) c.256G>C (p.Gly86Arg) n.69+2152C>G | |
| 17 | g.8121966C>T | CA397988763 | HES7 | c.298G>A (p.Gly100Ser) c.283G>A (p.Gly95Ser) c.274G>A (p.Gly92Ser) c.403G>A (p.Gly135Ser) c.394G>A (p.Gly132Ser) c.385G>A (p.Gly129Ser) c.256G>A (p.Gly86Ser) n.69+2152C>T | gnomAD v4 COSMIC |
| 17 | g.8121967G>A | CA497955308 | HES7 | c.297C>T (p.Ser99=) c.282C>T (p.Ser94=) c.273C>T (p.Ser91=) c.402C>T (p.Ser134=) c.393C>T (p.Ser131=) c.384C>T (p.Ser128=) c.255C>T (p.Ser85=) n.69+2153G>A | dbSNP gnomAD v4 |
| 17 | g.8121967G>C | CA287537334 | HES7 | c.297C>G (p.Ser99=) c.282C>G (p.Ser94=) c.273C>G (p.Ser91=) c.402C>G (p.Ser134=) c.393C>G (p.Ser131=) c.384C>G (p.Ser128=) c.255C>G (p.Ser85=) n.69+2153G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121967G= | CA2246160796 | HES7 | c.297C= (p.Ser99=) c.282C= (p.Ser94=) c.273C= (p.Ser91=) c.402C= (p.Ser134=) c.393C= (p.Ser131=) c.384C= (p.Ser128=) c.255C= (p.Ser85=) n.69+2153G= | |
| 17 | g.8121967G>T | CA497955311 | HES7 | c.297C>A (p.Ser99=) c.282C>A (p.Ser94=) c.273C>A (p.Ser91=) c.402C>A (p.Ser134=) c.393C>A (p.Ser131=) c.384C>A (p.Ser128=) c.255C>A (p.Ser85=) n.69+2153G>T | |
| 17 | g.8121968G>A | CA8368666 | HES7 | c.296C>T (p.Ser99Phe) c.281C>T (p.Ser94Phe) c.272C>T (p.Ser91Phe) c.401C>T (p.Ser134Phe) c.392C>T (p.Ser131Phe) c.383C>T (p.Ser128Phe) c.254C>T (p.Ser85Phe) n.69+2154G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121968G>C | CA397988775 | HES7 | c.296C>G (p.Ser99Cys) c.281C>G (p.Ser94Cys) c.272C>G (p.Ser91Cys) c.401C>G (p.Ser134Cys) c.392C>G (p.Ser131Cys) c.383C>G (p.Ser128Cys) c.254C>G (p.Ser85Cys) n.69+2154G>C | |
| 17 | g.8121968G= | CA2246160801 | HES7 | c.296C= (p.Ser99=) c.281C= (p.Ser94=) c.272C= (p.Ser91=) c.401C= (p.Ser134=) c.392C= (p.Ser131=) c.383C= (p.Ser128=) c.254C= (p.Ser85=) n.69+2154G= | |
| 17 | g.8121968G>T | CA397988773 | HES7 | c.296C>A (p.Ser99Tyr) c.281C>A (p.Ser94Tyr) c.272C>A (p.Ser91Tyr) c.401C>A (p.Ser134Tyr) c.392C>A (p.Ser131Tyr) c.383C>A (p.Ser128Tyr) c.254C>A (p.Ser85Tyr) n.69+2154G>T | gnomAD v4 |
| 17 | g.8121969A>C | CA397988777 | HES7 | c.295T>G (p.Ser99Ala) c.280T>G (p.Ser94Ala) c.271T>G (p.Ser91Ala) c.400T>G (p.Ser134Ala) c.391T>G (p.Ser131Ala) c.382T>G (p.Ser128Ala) c.253T>G (p.Ser85Ala) n.69+2155A>C | |
| 17 | g.8121969A>G | CA397988780 | HES7 | c.295T>C (p.Ser99Pro) c.280T>C (p.Ser94Pro) c.271T>C (p.Ser91Pro) c.400T>C (p.Ser134Pro) c.391T>C (p.Ser131Pro) c.382T>C (p.Ser128Pro) c.253T>C (p.Ser85Pro) n.69+2155A>G | gnomAD v4 |
| 17 | g.8121969A>T | CA397988783 | HES7 | c.295T>A (p.Ser99Thr) c.280T>A (p.Ser94Thr) c.271T>A (p.Ser91Thr) c.400T>A (p.Ser134Thr) c.391T>A (p.Ser131Thr) c.382T>A (p.Ser128Thr) c.253T>A (p.Ser85Thr) n.69+2155A>T | |
| 17 | g.8121970C>A | CA397988786 | HES7 | c.294G>T (p.Leu98Phe) c.279G>T (p.Leu93Phe) c.270G>T (p.Leu90Phe) c.399G>T (p.Leu133Phe) c.390G>T (p.Leu130Phe) c.381G>T (p.Leu127Phe) c.252G>T (p.Leu84Phe) n.69+2156C>A | gnomAD v4 |
| 17 | g.8121970C= | CA2246160804 | HES7 | c.294G= (p.Leu98=) c.279G= (p.Leu93=) c.270G= (p.Leu90=) c.399G= (p.Leu133=) c.390G= (p.Leu130=) c.381G= (p.Leu127=) c.252G= (p.Leu84=) n.69+2156C= | |
| 17 | g.8121970C>G | CA397988789 | HES7 | c.294G>C (p.Leu98Phe) c.279G>C (p.Leu93Phe) c.270G>C (p.Leu90Phe) c.399G>C (p.Leu133Phe) c.390G>C (p.Leu130Phe) c.381G>C (p.Leu127Phe) c.252G>C (p.Leu84Phe) n.69+2156C>G | |
| 17 | g.8121970C>T | CA497955321 | HES7 | c.294G>A (p.Leu98=) c.279G>A (p.Leu93=) c.270G>A (p.Leu90=) c.399G>A (p.Leu133=) c.390G>A (p.Leu130=) c.381G>A (p.Leu127=) c.252G>A (p.Leu84=) n.69+2156C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121971A= | CA2246160807 | HES7 | c.293T= (p.Leu98=) c.278T= (p.Leu93=) c.269T= (p.Leu90=) c.398T= (p.Leu133=) c.389T= (p.Leu130=) c.380T= (p.Leu127=) c.251T= (p.Leu84=) n.69+2157A= | |
| 17 | g.8121971A>C | CA397988793 | HES7 | c.293T>G (p.Leu98Trp) c.278T>G (p.Leu93Trp) c.269T>G (p.Leu90Trp) c.398T>G (p.Leu133Trp) c.389T>G (p.Leu130Trp) c.380T>G (p.Leu127Trp) c.251T>G (p.Leu84Trp) n.69+2157A>C | |
| 17 | g.8121971A>G | CA8368667 | HES7 | c.293T>C (p.Leu98Ser) c.278T>C (p.Leu93Ser) c.269T>C (p.Leu90Ser) c.398T>C (p.Leu133Ser) c.389T>C (p.Leu130Ser) c.380T>C (p.Leu127Ser) c.251T>C (p.Leu84Ser) n.69+2157A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121971A>T | CA397988797 | HES7 | c.293T>A (p.Leu98Ter) c.278T>A (p.Leu93Ter) c.269T>A (p.Leu90Ter) c.398T>A (p.Leu133Ter) c.389T>A (p.Leu130Ter) c.380T>A (p.Leu127Ter) c.251T>A (p.Leu84Ter) n.69+2157A>T | |
| 17 | g.8121972del | CA2635938457 | HES7 | c.293del (p.Leu98CysfsTer?) c.278del (p.Leu93CysfsTer?) c.269del (p.Leu90CysfsTer?) c.398del (p.Leu133CysfsTer?) c.389del (p.Leu130CysfsTer?) c.380del (p.Leu127CysfsTer?) c.251del (p.Leu84CysfsTer?) n.69+2158del | gnomAD v4 |
| 17 | g.8121972A>C | CA397988800 | HES7 | c.292T>G (p.Leu98Val) c.277T>G (p.Leu93Val) c.268T>G (p.Leu90Val) c.397T>G (p.Leu133Val) c.388T>G (p.Leu130Val) c.379T>G (p.Leu127Val) c.250T>G (p.Leu84Val) n.69+2158A>C | |
| 17 | g.8121972A>G | CA497955322 | HES7 | c.292T>C (p.Leu98=) c.277T>C (p.Leu93=) c.268T>C (p.Leu90=) c.397T>C (p.Leu133=) c.388T>C (p.Leu130=) c.379T>C (p.Leu127=) c.250T>C (p.Leu84=) n.69+2158A>G | gnomAD v4 |
| 17 | g.8121972A>T | CA397988802 | HES7 | c.292T>A (p.Leu98Met) c.277T>A (p.Leu93Met) c.268T>A (p.Leu90Met) c.397T>A (p.Leu133Met) c.388T>A (p.Leu130Met) c.379T>A (p.Leu127Met) c.250T>A (p.Leu84Met) n.69+2158A>T | |
| 17 | g.8121973G>A | CA497955326 | HES7 | c.291C>T (p.Tyr97=) c.276C>T (p.Tyr92=) c.267C>T (p.Tyr89=) c.396C>T (p.Tyr132=) c.387C>T (p.Tyr129=) c.378C>T (p.Tyr126=) c.249C>T (p.Tyr83=) n.69+2159G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121973G>C | CA397988805 | HES7 | c.291C>G (p.Tyr97Ter) c.276C>G (p.Tyr92Ter) c.267C>G (p.Tyr89Ter) c.396C>G (p.Tyr132Ter) c.387C>G (p.Tyr129Ter) c.378C>G (p.Tyr126Ter) c.249C>G (p.Tyr83Ter) n.69+2159G>C | |
| 17 | g.8121973G= | CA2246160815 | HES7 | c.291C= (p.Tyr97=) c.276C= (p.Tyr92=) c.267C= (p.Tyr89=) c.396C= (p.Tyr132=) c.387C= (p.Tyr129=) c.378C= (p.Tyr126=) c.249C= (p.Tyr83=) n.69+2159G= | |
| 17 | g.8121973G>T | CA397988808 | HES7 | c.291C>A (p.Tyr97Ter) c.276C>A (p.Tyr92Ter) c.267C>A (p.Tyr89Ter) c.396C>A (p.Tyr132Ter) c.387C>A (p.Tyr129Ter) c.378C>A (p.Tyr126Ter) c.249C>A (p.Tyr83Ter) n.69+2159G>T | |
| 17 | g.8121974T>A | CA397988818 | HES7 | c.290A>T (p.Tyr97Phe) c.275A>T (p.Tyr92Phe) c.266A>T (p.Tyr89Phe) c.395A>T (p.Tyr132Phe) c.386A>T (p.Tyr129Phe) c.377A>T (p.Tyr126Phe) c.248A>T (p.Tyr83Phe) n.69+2160T>A | |
| 17 | g.8121974T>C | CA397988811 | HES7 | c.290A>G (p.Tyr97Cys) c.275A>G (p.Tyr92Cys) c.266A>G (p.Tyr89Cys) c.395A>G (p.Tyr132Cys) c.386A>G (p.Tyr129Cys) c.377A>G (p.Tyr126Cys) c.248A>G (p.Tyr83Cys) n.69+2160T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.8121974T>G | CA397988815 | HES7 | c.290A>C (p.Tyr97Ser) c.275A>C (p.Tyr92Ser) c.266A>C (p.Tyr89Ser) c.395A>C (p.Tyr132Ser) c.386A>C (p.Tyr129Ser) c.377A>C (p.Tyr126Ser) c.248A>C (p.Tyr83Ser) n.69+2160T>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121974T= | CA2246160820 | HES7 | c.290A= (p.Tyr97=) c.275A= (p.Tyr92=) c.266A= (p.Tyr89=) c.395A= (p.Tyr132=) c.386A= (p.Tyr129=) c.377A= (p.Tyr126=) c.248A= (p.Tyr83=) n.69+2160T= | |
| 17 | g.8121975A>C | CA397988819 | HES7 | c.289T>G (p.Tyr97Asp) c.274T>G (p.Tyr92Asp) c.265T>G (p.Tyr89Asp) c.394T>G (p.Tyr132Asp) c.385T>G (p.Tyr129Asp) c.376T>G (p.Tyr126Asp) c.247T>G (p.Tyr83Asp) n.69+2161A>C | |
| 17 | g.8121975A>G | CA397988821 | HES7 | c.289T>C (p.Tyr97His) c.274T>C (p.Tyr92His) c.265T>C (p.Tyr89His) c.394T>C (p.Tyr132His) c.385T>C (p.Tyr129His) c.376T>C (p.Tyr126His) c.247T>C (p.Tyr83His) n.69+2161A>G | gnomAD v4 |
| 17 | g.8121975A>T | CA397988823 | HES7 | c.289T>A (p.Tyr97Asn) c.274T>A (p.Tyr92Asn) c.265T>A (p.Tyr89Asn) c.394T>A (p.Tyr132Asn) c.385T>A (p.Tyr129Asn) c.376T>A (p.Tyr126Asn) c.247T>A (p.Tyr83Asn) n.69+2161A>T | |
| 17 | g.8121976G>A | CA497955332 | HES7 | c.288C>T (p.Cys96=) c.273C>T (p.Cys91=) c.264C>T (p.Cys88=) c.393C>T (p.Cys131=) c.384C>T (p.Cys128=) c.375C>T (p.Cys125=) c.246C>T (p.Cys82=) n.69+2162G>A | |
| 17 | g.8121976G>C | CA397988826 | HES7 | c.288C>G (p.Cys96Trp) c.273C>G (p.Cys91Trp) c.264C>G (p.Cys88Trp) c.393C>G (p.Cys131Trp) c.384C>G (p.Cys128Trp) c.375C>G (p.Cys125Trp) c.246C>G (p.Cys82Trp) n.69+2162G>C | gnomAD v4 |
| 17 | g.8121976G>T | CA397988827 | HES7 | c.288C>A (p.Cys96Ter) c.273C>A (p.Cys91Ter) c.264C>A (p.Cys88Ter) c.393C>A (p.Cys131Ter) c.384C>A (p.Cys128Ter) c.375C>A (p.Cys125Ter) c.246C>A (p.Cys82Ter) n.69+2162G>T | gnomAD v4 |
| 17 | g.8121977C>A | CA287537340 | HES7 | c.287G>T (p.Cys96Phe) c.272G>T (p.Cys91Phe) c.263G>T (p.Cys88Phe) c.392G>T (p.Cys131Phe) c.383G>T (p.Cys128Phe) c.374G>T (p.Cys125Phe) c.245G>T (p.Cys82Phe) n.69+2163C>A | dbSNP |
| 17 | g.8121977C= | CA2246160825 | HES7 | c.287G= (p.Cys96=) c.272G= (p.Cys91=) c.263G= (p.Cys88=) c.392G= (p.Cys131=) c.383G= (p.Cys128=) c.374G= (p.Cys125=) c.245G= (p.Cys82=) n.69+2163C= | |
| 17 | g.8121977C>G | CA397988828 | HES7 | c.287G>C (p.Cys96Ser) c.272G>C (p.Cys91Ser) c.263G>C (p.Cys88Ser) c.392G>C (p.Cys131Ser) c.383G>C (p.Cys128Ser) c.374G>C (p.Cys125Ser) c.245G>C (p.Cys82Ser) n.69+2163C>G | |
| 17 | g.8121977C>T | CA397988829 | HES7 | c.287G>A (p.Cys96Tyr) c.272G>A (p.Cys91Tyr) c.263G>A (p.Cys88Tyr) c.392G>A (p.Cys131Tyr) c.383G>A (p.Cys128Tyr) c.374G>A (p.Cys125Tyr) c.245G>A (p.Cys82Tyr) n.69+2163C>T | gnomAD v4 |
| 17 | g.8121978A= | CA2246160831 | HES7 | c.286T= (p.Cys96=) c.271T= (p.Cys91=) c.262T= (p.Cys88=) c.391T= (p.Cys131=) c.382T= (p.Cys128=) c.373T= (p.Cys125=) c.244T= (p.Cys82=) n.69+2164A= | |
| 17 | g.8121978A>C | CA8368668 | HES7 | c.286T>G (p.Cys96Gly) c.271T>G (p.Cys91Gly) c.262T>G (p.Cys88Gly) c.391T>G (p.Cys131Gly) c.382T>G (p.Cys128Gly) c.373T>G (p.Cys125Gly) c.244T>G (p.Cys82Gly) n.69+2164A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.8121978A>G | CA397988830 | HES7 | c.286T>C (p.Cys96Arg) c.271T>C (p.Cys91Arg) c.262T>C (p.Cys88Arg) c.391T>C (p.Cys131Arg) c.382T>C (p.Cys128Arg) c.373T>C (p.Cys125Arg) c.244T>C (p.Cys82Arg) n.69+2164A>G | gnomAD v4 |
| 17 | g.8121978A>T | CA8368669 | HES7 | c.286T>A (p.Cys96Ser) c.271T>A (p.Cys91Ser) c.262T>A (p.Cys88Ser) c.391T>A (p.Cys131Ser) c.382T>A (p.Cys128Ser) c.373T>A (p.Cys125Ser) c.244T>A (p.Cys82Ser) n.69+2164A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.8121979G>A | CA497955339 | HES7 | c.285C>T (p.Ser95=) c.270C>T (p.Ser90=) c.261C>T (p.Ser87=) c.390C>T (p.Ser130=) c.381C>T (p.Ser127=) c.372C>T (p.Ser124=) c.243C>T (p.Ser81=) n.69+2165G>A | gnomAD v4 |
| 17 | g.8121979G>C | CA397988834 | HES7 | c.285C>G (p.Ser95Arg) c.270C>G (p.Ser90Arg) c.261C>G (p.Ser87Arg) c.390C>G (p.Ser130Arg) c.381C>G (p.Ser127Arg) c.372C>G (p.Ser124Arg) c.243C>G (p.Ser81Arg) n.69+2165G>C | |
| 17 | g.8121979G>T | CA397988837 | HES7 | c.285C>A (p.Ser95Arg) c.270C>A (p.Ser90Arg) c.261C>A (p.Ser87Arg) c.390C>A (p.Ser130Arg) c.381C>A (p.Ser127Arg) c.372C>A (p.Ser124Arg) c.243C>A (p.Ser81Arg) n.69+2165G>T | |
| 17 | g.8121980C>A | CA397988840 | HES7 | c.284G>T (p.Ser95Ile) c.269G>T (p.Ser90Ile) c.260G>T (p.Ser87Ile) c.389G>T (p.Ser130Ile) c.380G>T (p.Ser127Ile) c.371G>T (p.Ser124Ile) c.242G>T (p.Ser81Ile) n.69+2166C>A | gnomAD v4 COSMIC |
| 17 | g.8121980C>G | CA397988841 | HES7 | c.284G>C (p.Ser95Thr) c.269G>C (p.Ser90Thr) c.260G>C (p.Ser87Thr) c.389G>C (p.Ser130Thr) c.380G>C (p.Ser127Thr) c.371G>C (p.Ser124Thr) c.242G>C (p.Ser81Thr) n.69+2166C>G | |
| 17 | g.8121980C>T | CA397988845 | HES7 | c.284G>A (p.Ser95Asn) c.269G>A (p.Ser90Asn) c.260G>A (p.Ser87Asn) c.389G>A (p.Ser130Asn) c.380G>A (p.Ser127Asn) c.371G>A (p.Ser124Asn) c.242G>A (p.Ser81Asn) n.69+2166C>T | gnomAD v4 |
| 17 | g.8121981T>A | CA397988848 | HES7 | c.283A>T (p.Ser95Cys) c.268A>T (p.Ser90Cys) c.259A>T (p.Ser87Cys) c.388A>T (p.Ser130Cys) c.379A>T (p.Ser127Cys) c.370A>T (p.Ser124Cys) c.241A>T (p.Ser81Cys) n.69+2167T>A | |
| 17 | g.8121981T>C | CA397988851 | HES7 | c.283A>G (p.Ser95Gly) c.268A>G (p.Ser90Gly) c.259A>G (p.Ser87Gly) c.388A>G (p.Ser130Gly) c.379A>G (p.Ser127Gly) c.370A>G (p.Ser124Gly) c.241A>G (p.Ser81Gly) n.69+2167T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.8121981T>G | CA397988853 | HES7 | c.283A>C (p.Ser95Arg) c.268A>C (p.Ser90Arg) c.259A>C (p.Ser87Arg) c.388A>C (p.Ser130Arg) c.379A>C (p.Ser127Arg) c.370A>C (p.Ser124Arg) c.241A>C (p.Ser81Arg) n.69+2167T>G | |
| 17 | g.8121981T= | CA2246160835 | HES7 | c.283A= (p.Ser95=) c.268A= (p.Ser90=) c.259A= (p.Ser87=) c.388A= (p.Ser130=) c.379A= (p.Ser127=) c.370A= (p.Ser124=) c.241A= (p.Ser81=) n.69+2167T= |