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.8121847_8121862delinsCTTGGGCCGGGGCGGT | CA2246160480 | HES7 | c.402_417delinsACCGCCCCGGCCCAAG (p.Lys134=) c.387_402delinsACCGCCCCGGCCCAAG (p.Lys129=) c.378_393delinsACCGCCCCGGCCCAAG (p.Lys126=) c.507_522delinsACCGCCCCGGCCCAAG (p.Lys169=) c.498_513delinsACCGCCCCGGCCCAAG (p.Lys166=) c.489_504delinsACCGCCCCGGCCCAAG (p.Lys163=) c.360_375delinsACCGCCCCGGCCCAAG (p.Lys120=) n.69+2033_69+2048delinsCTTGGGCCGGGGCGGT | |
17 | g.8121853_8121867del | CA891863123 | HES7 | c.402_416del (p.Pro135_Lys139del) c.387_401del (p.Pro130_Lys134del) c.378_392del (p.Pro127_Lys131del) c.507_521del (p.Pro170_Lys174del) c.498_512del (p.Pro167_Lys171del) c.489_503del (p.Pro164_Lys168del) c.360_374del (p.Pro121_Lys125del) n.69+2039_69+2053del | ClinVar dbSNP |
17 | g.8121858del | CA2635937844 | HES7 | c.409del (p.Arg137GlyfsTer5) c.394del (p.Arg132GlyfsTer5) c.385del (p.Arg129GlyfsTer5) c.514del (p.Arg172GlyfsTer5) c.505del (p.Arg169GlyfsTer5) c.496del (p.Arg166GlyfsTer5) c.367del (p.Arg123GlyfsTer5) n.69+2044del | gnomAD v4 |
17 | g.8121861_8121870dup | CA145465 | HES7 | c.400_409dup (p.Arg137GlnfsTer?) c.385_394dup (p.Arg132GlnfsTer?) c.376_385dup (p.Arg129GlnfsTer?) c.505_514dup (p.Arg172GlnfsTer?) c.496_505dup (p.Arg169GlnfsTer?) c.487_496dup (p.Arg166GlnfsTer?) c.358_367dup (p.Arg123GlnfsTer?) n.69+2047_69+2056dup | ClinVar dbSNP |
17 | g.8121857G>A | CA397988259 | HES7 | c.407C>T (p.Pro136Leu) c.392C>T (p.Pro131Leu) c.383C>T (p.Pro128Leu) c.512C>T (p.Pro171Leu) c.503C>T (p.Pro168Leu) c.494C>T (p.Pro165Leu) c.365C>T (p.Pro122Leu) n.69+2043G>A | |
17 | g.8121857G>C | CA397988261 | HES7 | c.407C>G (p.Pro136Arg) c.392C>G (p.Pro131Arg) c.383C>G (p.Pro128Arg) c.512C>G (p.Pro171Arg) c.503C>G (p.Pro168Arg) c.494C>G (p.Pro165Arg) c.365C>G (p.Pro122Arg) n.69+2043G>C | |
17 | g.8121857G>T | CA397988263 | HES7 | c.407C>A (p.Pro136His) c.392C>A (p.Pro131His) c.383C>A (p.Pro128His) c.512C>A (p.Pro171His) c.503C>A (p.Pro168His) c.494C>A (p.Pro165His) c.365C>A (p.Pro122His) n.69+2043G>T | |
17 | g.8121858G>A | CA397988265 | HES7 | c.406C>T (p.Pro136Ser) c.391C>T (p.Pro131Ser) c.382C>T (p.Pro128Ser) c.511C>T (p.Pro171Ser) c.502C>T (p.Pro168Ser) c.493C>T (p.Pro165Ser) c.364C>T (p.Pro122Ser) n.69+2044G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121858G>C | CA397988267 | HES7 | c.406C>G (p.Pro136Ala) c.391C>G (p.Pro131Ala) c.382C>G (p.Pro128Ala) c.511C>G (p.Pro171Ala) c.502C>G (p.Pro168Ala) c.493C>G (p.Pro165Ala) c.364C>G (p.Pro122Ala) n.69+2044G>C | |
17 | g.8121858G= | CA2246160531 | HES7 | c.406C= (p.Pro136=) c.391C= (p.Pro131=) c.382C= (p.Pro128=) c.511C= (p.Pro171=) c.502C= (p.Pro168=) c.493C= (p.Pro165=) c.364C= (p.Pro122=) n.69+2044G= | |
17 | g.8121858G>T | CA8368642 | HES7 | c.406C>A (p.Pro136Thr) c.391C>A (p.Pro131Thr) c.382C>A (p.Pro128Thr) c.511C>A (p.Pro171Thr) c.502C>A (p.Pro168Thr) c.493C>A (p.Pro165Thr) c.364C>A (p.Pro122Thr) n.69+2044G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121859C>A | CA287537220 | HES7 | c.405G>T (p.Pro135=) c.390G>T (p.Pro130=) c.381G>T (p.Pro127=) c.510G>T (p.Pro170=) c.501G>T (p.Pro167=) c.492G>T (p.Pro164=) c.363G>T (p.Pro121=) n.69+2045C>A | dbSNP |
17 | g.8121859C= | CA2246160535 | HES7 | c.405G= (p.Pro135=) c.390G= (p.Pro130=) c.381G= (p.Pro127=) c.510G= (p.Pro170=) c.501G= (p.Pro167=) c.492G= (p.Pro164=) c.363G= (p.Pro121=) n.69+2045C= | |
17 | g.8121859C>G | CA497955395 | HES7 | c.405G>C (p.Pro135=) c.390G>C (p.Pro130=) c.381G>C (p.Pro127=) c.510G>C (p.Pro170=) c.501G>C (p.Pro167=) c.492G>C (p.Pro164=) c.363G>C (p.Pro121=) n.69+2045C>G | |
17 | g.8121859C>T | CA497955396 | HES7 | c.405G>A (p.Pro135=) c.390G>A (p.Pro130=) c.381G>A (p.Pro127=) c.510G>A (p.Pro170=) c.501G>A (p.Pro167=) c.492G>A (p.Pro164=) c.363G>A (p.Pro121=) n.69+2045C>T | gnomAD v4 |
17 | g.8121860G>A | CA8368643 | HES7 | c.404C>T (p.Pro135Leu) c.389C>T (p.Pro130Leu) c.380C>T (p.Pro127Leu) c.509C>T (p.Pro170Leu) c.500C>T (p.Pro167Leu) c.491C>T (p.Pro164Leu) c.362C>T (p.Pro121Leu) n.69+2046G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.8121860G>C | CA397988271 | HES7 | c.404C>G (p.Pro135Arg) c.389C>G (p.Pro130Arg) c.380C>G (p.Pro127Arg) c.509C>G (p.Pro170Arg) c.500C>G (p.Pro167Arg) c.491C>G (p.Pro164Arg) c.362C>G (p.Pro121Arg) n.69+2046G>C | |
17 | g.8121860G= | CA2246160542 | HES7 | c.404C= (p.Pro135=) c.389C= (p.Pro130=) c.380C= (p.Pro127=) c.509C= (p.Pro170=) c.500C= (p.Pro167=) c.491C= (p.Pro164=) c.362C= (p.Pro121=) n.69+2046G= | |
17 | g.8121860G>T | CA397988273 | HES7 | c.404C>A (p.Pro135Gln) c.389C>A (p.Pro130Gln) c.380C>A (p.Pro127Gln) c.509C>A (p.Pro170Gln) c.500C>A (p.Pro167Gln) c.491C>A (p.Pro164Gln) c.362C>A (p.Pro121Gln) n.69+2046G>T | gnomAD v4 |
17 | g.8121861G>A | CA287537246 | HES7 | c.403C>T (p.Pro135Ser) c.388C>T (p.Pro130Ser) c.379C>T (p.Pro127Ser) c.508C>T (p.Pro170Ser) c.499C>T (p.Pro167Ser) c.490C>T (p.Pro164Ser) c.361C>T (p.Pro121Ser) n.69+2047G>A | ClinVar dbSNP gnomAD v4 |
17 | g.8121861G>C | CA397988277 | HES7 | c.403C>G (p.Pro135Ala) c.388C>G (p.Pro130Ala) c.379C>G (p.Pro127Ala) c.508C>G (p.Pro170Ala) c.499C>G (p.Pro167Ala) c.490C>G (p.Pro164Ala) c.361C>G (p.Pro121Ala) n.69+2047G>C | |
17 | g.8121861G= | CA2246160546 | HES7 | c.403C= (p.Pro135=) c.388C= (p.Pro130=) c.379C= (p.Pro127=) c.508C= (p.Pro170=) c.499C= (p.Pro167=) c.490C= (p.Pro164=) c.361C= (p.Pro121=) n.69+2047G= | |
17 | g.8121861G>T | CA397988275 | HES7 | c.403C>A (p.Pro135Thr) c.388C>A (p.Pro130Thr) c.379C>A (p.Pro127Thr) c.508C>A (p.Pro170Thr) c.499C>A (p.Pro167Thr) c.490C>A (p.Pro164Thr) c.361C>A (p.Pro121Thr) n.69+2047G>T | |
17 | g.8121862T>A | CA397988281 | HES7 | c.402A>T (p.Lys134Asn) c.387A>T (p.Lys129Asn) c.378A>T (p.Lys126Asn) c.507A>T (p.Lys169Asn) c.498A>T (p.Lys166Asn) c.489A>T (p.Lys163Asn) c.360A>T (p.Lys120Asn) n.69+2048T>A | |
17 | g.8121862T>C | CA8368644 | HES7 | c.402A>G (p.Lys134=) c.387A>G (p.Lys129=) c.378A>G (p.Lys126=) c.507A>G (p.Lys169=) c.498A>G (p.Lys166=) c.489A>G (p.Lys163=) c.360A>G (p.Lys120=) n.69+2048T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121862T>G | CA287537255 | HES7 | c.402A>C (p.Lys134Asn) c.387A>C (p.Lys129Asn) c.378A>C (p.Lys126Asn) c.507A>C (p.Lys169Asn) c.498A>C (p.Lys166Asn) c.489A>C (p.Lys163Asn) c.360A>C (p.Lys120Asn) n.69+2048T>G | dbSNP gnomAD v4 |
17 | g.8121862T= | CA2246160551 | HES7 | c.402A= (p.Lys134=) c.387A= (p.Lys129=) c.378A= (p.Lys126=) c.507A= (p.Lys169=) c.498A= (p.Lys166=) c.489A= (p.Lys163=) c.360A= (p.Lys120=) n.69+2048T= | |
17 | g.8121863T>A | CA397988288 | HES7 | c.401A>T (p.Lys134Ile) c.386A>T (p.Lys129Ile) c.377A>T (p.Lys126Ile) c.506A>T (p.Lys169Ile) c.497A>T (p.Lys166Ile) c.488A>T (p.Lys163Ile) c.359A>T (p.Lys120Ile) n.69+2049T>A | |
17 | g.8121863T>C | CA397988290 | HES7 | c.401A>G (p.Lys134Arg) c.386A>G (p.Lys129Arg) c.377A>G (p.Lys126Arg) c.506A>G (p.Lys169Arg) c.497A>G (p.Lys166Arg) c.488A>G (p.Lys163Arg) c.359A>G (p.Lys120Arg) n.69+2049T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121863T>G | CA397988293 | HES7 | c.401A>C (p.Lys134Thr) c.386A>C (p.Lys129Thr) c.377A>C (p.Lys126Thr) c.506A>C (p.Lys169Thr) c.497A>C (p.Lys166Thr) c.488A>C (p.Lys163Thr) c.359A>C (p.Lys120Thr) n.69+2049T>G | |
17 | g.8121863T= | CA2246160559 | HES7 | c.401A= (p.Lys134=) c.386A= (p.Lys129=) c.377A= (p.Lys126=) c.506A= (p.Lys169=) c.497A= (p.Lys166=) c.488A= (p.Lys163=) c.359A= (p.Lys120=) n.69+2049T= | |
17 | g.8121864T>A | CA397988296 | HES7 | c.400A>T (p.Lys134Ter) c.385A>T (p.Lys129Ter) c.376A>T (p.Lys126Ter) c.505A>T (p.Lys169Ter) c.496A>T (p.Lys166Ter) c.487A>T (p.Lys163Ter) c.358A>T (p.Lys120Ter) n.69+2050T>A | |
17 | g.8121864T>C | CA397988299 | HES7 | c.400A>G (p.Lys134Glu) c.385A>G (p.Lys129Glu) c.376A>G (p.Lys126Glu) c.505A>G (p.Lys169Glu) c.496A>G (p.Lys166Glu) c.487A>G (p.Lys163Glu) c.358A>G (p.Lys120Glu) n.69+2050T>C | |
17 | g.8121864T>G | CA397988302 | HES7 | c.400A>C (p.Lys134Gln) c.385A>C (p.Lys129Gln) c.376A>C (p.Lys126Gln) c.505A>C (p.Lys169Gln) c.496A>C (p.Lys166Gln) c.487A>C (p.Lys163Gln) c.358A>C (p.Lys120Gln) n.69+2050T>G | |
17 | g.8121865G>A | CA497955407 | HES7 | c.399C>T (p.Pro133=) c.384C>T (p.Pro128=) c.375C>T (p.Pro125=) c.504C>T (p.Pro168=) c.495C>T (p.Pro165=) c.486C>T (p.Pro162=) c.357C>T (p.Pro119=) n.69+2051G>A | gnomAD v4 |
17 | g.8121865G>C | CA497955408 | HES7 | c.399C>G (p.Pro133=) c.384C>G (p.Pro128=) c.375C>G (p.Pro125=) c.504C>G (p.Pro168=) c.495C>G (p.Pro165=) c.486C>G (p.Pro162=) c.357C>G (p.Pro119=) n.69+2051G>C | |
17 | g.8121865G>T | CA497955409 | HES7 | c.399C>A (p.Pro133=) c.384C>A (p.Pro128=) c.375C>A (p.Pro125=) c.504C>A (p.Pro168=) c.495C>A (p.Pro165=) c.486C>A (p.Pro162=) c.357C>A (p.Pro119=) n.69+2051G>T | gnomAD v4 |
17 | g.8121868del | CA2635937898 | HES7 | c.399del (p.Lys134AsnfsTer8) c.384del (p.Lys129AsnfsTer8) c.375del (p.Lys126AsnfsTer8) c.504del (p.Lys169AsnfsTer8) c.495del (p.Lys166AsnfsTer8) c.486del (p.Lys163AsnfsTer8) c.357del (p.Lys120AsnfsTer8) n.69+2054del | gnomAD v4 |
17 | g.8121866G>A | CA397988306 | HES7 | c.398C>T (p.Pro133Leu) c.383C>T (p.Pro128Leu) c.374C>T (p.Pro125Leu) c.503C>T (p.Pro168Leu) c.494C>T (p.Pro165Leu) c.485C>T (p.Pro162Leu) c.356C>T (p.Pro119Leu) n.69+2052G>A | |
17 | g.8121866G>C | CA397988308 | HES7 | c.398C>G (p.Pro133Arg) c.383C>G (p.Pro128Arg) c.374C>G (p.Pro125Arg) c.503C>G (p.Pro168Arg) c.494C>G (p.Pro165Arg) c.485C>G (p.Pro162Arg) c.356C>G (p.Pro119Arg) n.69+2052G>C | |
17 | g.8121866G= | CA2246160563 | HES7 | c.398C= (p.Pro133=) c.383C= (p.Pro128=) c.374C= (p.Pro125=) c.503C= (p.Pro168=) c.494C= (p.Pro165=) c.485C= (p.Pro162=) c.356C= (p.Pro119=) n.69+2052G= | |
17 | g.8121866G>T | CA8368645 | HES7 | c.398C>A (p.Pro133His) c.383C>A (p.Pro128His) c.374C>A (p.Pro125His) c.503C>A (p.Pro168His) c.494C>A (p.Pro165His) c.485C>A (p.Pro162His) c.356C>A (p.Pro119His) n.69+2052G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121867G>A | CA397988325 | HES7 | c.397C>T (p.Pro133Ser) c.382C>T (p.Pro128Ser) c.373C>T (p.Pro125Ser) c.502C>T (p.Pro168Ser) c.493C>T (p.Pro165Ser) c.484C>T (p.Pro162Ser) c.355C>T (p.Pro119Ser) n.69+2053G>A | gnomAD v4 |
17 | g.8121867G>C | CA397988322 | HES7 | c.397C>G (p.Pro133Ala) c.382C>G (p.Pro128Ala) c.373C>G (p.Pro125Ala) c.502C>G (p.Pro168Ala) c.493C>G (p.Pro165Ala) c.484C>G (p.Pro162Ala) c.355C>G (p.Pro119Ala) n.69+2053G>C | |
17 | g.8121867G>T | CA397988312 | HES7 | c.397C>A (p.Pro133Thr) c.382C>A (p.Pro128Thr) c.373C>A (p.Pro125Thr) c.502C>A (p.Pro168Thr) c.493C>A (p.Pro165Thr) c.484C>A (p.Pro162Thr) c.355C>A (p.Pro119Thr) n.69+2053G>T | gnomAD v4 |
17 | g.8121868G>A | CA497955413 | HES7 | c.396C>T (p.Arg132=) c.381C>T (p.Arg127=) c.372C>T (p.Arg124=) c.501C>T (p.Arg167=) c.492C>T (p.Arg164=) c.483C>T (p.Arg161=) c.354C>T (p.Arg118=) n.69+2054G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121868G>C | CA497955414 | HES7 | c.396C>G (p.Arg132=) c.381C>G (p.Arg127=) c.372C>G (p.Arg124=) c.501C>G (p.Arg167=) c.492C>G (p.Arg164=) c.483C>G (p.Arg161=) c.354C>G (p.Arg118=) n.69+2054G>C | |
17 | g.8121868G= | CA2246160569 | HES7 | c.396C= (p.Arg132=) c.381C= (p.Arg127=) c.372C= (p.Arg124=) c.501C= (p.Arg167=) c.492C= (p.Arg164=) c.483C= (p.Arg161=) c.354C= (p.Arg118=) n.69+2054G= | |
17 | g.8121868G>T | CA497955415 | HES7 | c.396C>A (p.Arg132=) c.381C>A (p.Arg127=) c.372C>A (p.Arg124=) c.501C>A (p.Arg167=) c.492C>A (p.Arg164=) c.483C>A (p.Arg161=) c.354C>A (p.Arg118=) n.69+2054G>T | gnomAD v4 |
17 | g.8121869C>A | CA8368646 | HES7 | c.395G>T (p.Arg132Leu) c.380G>T (p.Arg127Leu) c.371G>T (p.Arg124Leu) c.500G>T (p.Arg167Leu) c.491G>T (p.Arg164Leu) c.482G>T (p.Arg161Leu) c.353G>T (p.Arg118Leu) n.69+2055C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121869C= | CA2246160570 | HES7 | c.395G= (p.Arg132=) c.380G= (p.Arg127=) c.371G= (p.Arg124=) c.500G= (p.Arg167=) c.491G= (p.Arg164=) c.482G= (p.Arg161=) c.353G= (p.Arg118=) n.69+2055C= | |
17 | g.8121869C>G | CA397988329 | HES7 | c.395G>C (p.Arg132Pro) c.380G>C (p.Arg127Pro) c.371G>C (p.Arg124Pro) c.500G>C (p.Arg167Pro) c.491G>C (p.Arg164Pro) c.482G>C (p.Arg161Pro) c.353G>C (p.Arg118Pro) n.69+2055C>G | gnomAD v4 |
17 | g.8121869C>T | CA397988332 | HES7 | c.395G>A (p.Arg132His) c.380G>A (p.Arg127His) c.371G>A (p.Arg124His) c.500G>A (p.Arg167His) c.491G>A (p.Arg164His) c.482G>A (p.Arg161His) c.353G>A (p.Arg118His) n.69+2055C>T | gnomAD v4 |
17 | g.8121870G>A | CA8368647 | HES7 | c.394C>T (p.Arg132Cys) c.379C>T (p.Arg127Cys) c.370C>T (p.Arg124Cys) c.499C>T (p.Arg167Cys) c.490C>T (p.Arg164Cys) c.481C>T (p.Arg161Cys) c.352C>T (p.Arg118Cys) n.69+2056G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121870G>C | CA397988338 | HES7 | c.394C>G (p.Arg132Gly) c.379C>G (p.Arg127Gly) c.370C>G (p.Arg124Gly) c.499C>G (p.Arg167Gly) c.490C>G (p.Arg164Gly) c.481C>G (p.Arg161Gly) c.352C>G (p.Arg118Gly) n.69+2056G>C | |
17 | g.8121870G= | CA2246160574 | HES7 | c.394C= (p.Arg132=) c.379C= (p.Arg127=) c.370C= (p.Arg124=) c.499C= (p.Arg167=) c.490C= (p.Arg164=) c.481C= (p.Arg161=) c.352C= (p.Arg118=) n.69+2056G= | |
17 | g.8121870G>T | CA8368648 | HES7 | c.394C>A (p.Arg132Ser) c.379C>A (p.Arg127Ser) c.370C>A (p.Arg124Ser) c.499C>A (p.Arg167Ser) c.490C>A (p.Arg164Ser) c.481C>A (p.Arg161Ser) c.352C>A (p.Arg118Ser) n.69+2056G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121871C>A | CA497955421 | HES7 | c.393G>T (p.Leu131=) c.378G>T (p.Leu126=) c.369G>T (p.Leu123=) c.498G>T (p.Leu166=) c.489G>T (p.Leu163=) c.480G>T (p.Leu160=) c.351G>T (p.Leu117=) n.69+2057C>A | gnomAD v4 |
17 | g.8121871C>G | CA497955422 | HES7 | c.393G>C (p.Leu131=) c.378G>C (p.Leu126=) c.369G>C (p.Leu123=) c.498G>C (p.Leu166=) c.489G>C (p.Leu163=) c.480G>C (p.Leu160=) c.351G>C (p.Leu117=) n.69+2057C>G | |
17 | g.8121871C>T | CA497955423 | HES7 | c.393G>A (p.Leu131=) c.378G>A (p.Leu126=) c.369G>A (p.Leu123=) c.498G>A (p.Leu166=) c.489G>A (p.Leu163=) c.480G>A (p.Leu160=) c.351G>A (p.Leu117=) n.69+2057C>T | gnomAD v4 |
17 | g.8121872A>C | CA397988344 | HES7 | c.392T>G (p.Leu131Arg) c.377T>G (p.Leu126Arg) c.368T>G (p.Leu123Arg) c.497T>G (p.Leu166Arg) c.488T>G (p.Leu163Arg) c.479T>G (p.Leu160Arg) c.350T>G (p.Leu117Arg) n.69+2058A>C | |
17 | g.8121872A>G | CA397988347 | HES7 | c.392T>C (p.Leu131Pro) c.377T>C (p.Leu126Pro) c.368T>C (p.Leu123Pro) c.497T>C (p.Leu166Pro) c.488T>C (p.Leu163Pro) c.479T>C (p.Leu160Pro) c.350T>C (p.Leu117Pro) n.69+2058A>G | gnomAD v4 |
17 | g.8121872A>T | CA397988349 | HES7 | c.392T>A (p.Leu131Gln) c.377T>A (p.Leu126Gln) c.368T>A (p.Leu123Gln) c.497T>A (p.Leu166Gln) c.488T>A (p.Leu163Gln) c.479T>A (p.Leu160Gln) c.350T>A (p.Leu117Gln) n.69+2058A>T | |
17 | g.8121873G>A | CA497955427 | HES7 | c.391C>T (p.Leu131=) c.376C>T (p.Leu126=) c.367C>T (p.Leu123=) c.496C>T (p.Leu166=) c.487C>T (p.Leu163=) c.478C>T (p.Leu160=) c.349C>T (p.Leu117=) n.69+2059G>A | gnomAD v4 |
17 | g.8121873G>C | CA397988352 | HES7 | c.391C>G (p.Leu131Val) c.376C>G (p.Leu126Val) c.367C>G (p.Leu123Val) c.496C>G (p.Leu166Val) c.487C>G (p.Leu163Val) c.478C>G (p.Leu160Val) c.349C>G (p.Leu117Val) n.69+2059G>C | |
17 | g.8121873G>T | CA397988355 | HES7 | c.391C>A (p.Leu131Met) c.376C>A (p.Leu126Met) c.367C>A (p.Leu123Met) c.496C>A (p.Leu166Met) c.487C>A (p.Leu163Met) c.478C>A (p.Leu160Met) c.349C>A (p.Leu117Met) n.69+2059G>T | |
17 | g.8121874A= | CA2246160577 | HES7 | c.390T= (p.Tyr130=) c.375T= (p.Tyr125=) c.366T= (p.Tyr122=) c.495T= (p.Tyr165=) c.486T= (p.Tyr162=) c.477T= (p.Tyr159=) c.348T= (p.Tyr116=) n.69+2060A= | |
17 | g.8121874A>C | CA397988359 | HES7 | c.390T>G (p.Tyr130Ter) c.375T>G (p.Tyr125Ter) c.366T>G (p.Tyr122Ter) c.495T>G (p.Tyr165Ter) c.486T>G (p.Tyr162Ter) c.477T>G (p.Tyr159Ter) c.348T>G (p.Tyr116Ter) n.69+2060A>C | |
17 | g.8121874A>G | CA497955431 | HES7 | c.390T>C (p.Tyr130=) c.375T>C (p.Tyr125=) c.366T>C (p.Tyr122=) c.495T>C (p.Tyr165=) c.486T>C (p.Tyr162=) c.477T>C (p.Tyr159=) c.348T>C (p.Tyr116=) n.69+2060A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.8121874A>T | CA397988362 | HES7 | c.390T>A (p.Tyr130Ter) c.375T>A (p.Tyr125Ter) c.366T>A (p.Tyr122Ter) c.495T>A (p.Tyr165Ter) c.486T>A (p.Tyr162Ter) c.477T>A (p.Tyr159Ter) c.348T>A (p.Tyr116Ter) n.69+2060A>T | |
17 | g.8121875T>A | CA397988366 | HES7 | c.389A>T (p.Tyr130Phe) c.374A>T (p.Tyr125Phe) c.365A>T (p.Tyr122Phe) c.494A>T (p.Tyr165Phe) c.485A>T (p.Tyr162Phe) c.476A>T (p.Tyr159Phe) c.347A>T (p.Tyr116Phe) n.69+2061T>A | |
17 | g.8121875T>C | CA8368649 | HES7 | c.389A>G (p.Tyr130Cys) c.374A>G (p.Tyr125Cys) c.365A>G (p.Tyr122Cys) c.494A>G (p.Tyr165Cys) c.485A>G (p.Tyr162Cys) c.476A>G (p.Tyr159Cys) c.347A>G (p.Tyr116Cys) n.69+2061T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121875T>G | CA397988364 | HES7 | c.389A>C (p.Tyr130Ser) c.374A>C (p.Tyr125Ser) c.365A>C (p.Tyr122Ser) c.494A>C (p.Tyr165Ser) c.485A>C (p.Tyr162Ser) c.476A>C (p.Tyr159Ser) c.347A>C (p.Tyr116Ser) n.69+2061T>G | ClinVar gnomAD v4 |
17 | g.8121875T= | CA2246160579 | HES7 | c.389A= (p.Tyr130=) c.374A= (p.Tyr125=) c.365A= (p.Tyr122=) c.494A= (p.Tyr165=) c.485A= (p.Tyr162=) c.476A= (p.Tyr159=) c.347A= (p.Tyr116=) n.69+2061T= | |
17 | g.8121876A>C | CA397988376 | HES7 | c.388T>G (p.Tyr130Asp) c.373T>G (p.Tyr125Asp) c.364T>G (p.Tyr122Asp) c.493T>G (p.Tyr165Asp) c.484T>G (p.Tyr162Asp) c.475T>G (p.Tyr159Asp) c.346T>G (p.Tyr116Asp) n.69+2062A>C | |
17 | g.8121876A>G | CA397988371 | HES7 | c.388T>C (p.Tyr130His) c.373T>C (p.Tyr125His) c.364T>C (p.Tyr122His) c.493T>C (p.Tyr165His) c.484T>C (p.Tyr162His) c.475T>C (p.Tyr159His) c.346T>C (p.Tyr116His) n.69+2062A>G | gnomAD v4 |
17 | g.8121876A>T | CA397988374 | HES7 | c.388T>A (p.Tyr130Asn) c.373T>A (p.Tyr125Asn) c.364T>A (p.Tyr122Asn) c.493T>A (p.Tyr165Asn) c.484T>A (p.Tyr162Asn) c.475T>A (p.Tyr159Asn) c.346T>A (p.Tyr116Asn) n.69+2062A>T | |
17 | g.8121877G>A | CA497955439 | HES7 | c.387C>T (p.Gly129=) c.372C>T (p.Gly124=) c.363C>T (p.Gly121=) c.492C>T (p.Gly164=) c.483C>T (p.Gly161=) c.474C>T (p.Gly158=) c.345C>T (p.Gly115=) n.69+2063G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.8121877G>C | CA497955438 | HES7 | c.387C>G (p.Gly129=) c.372C>G (p.Gly124=) c.363C>G (p.Gly121=) c.492C>G (p.Gly164=) c.483C>G (p.Gly161=) c.474C>G (p.Gly158=) c.345C>G (p.Gly115=) n.69+2063G>C | |
17 | g.8121877G= | CA2246160586 | HES7 | c.387C= (p.Gly129=) c.372C= (p.Gly124=) c.363C= (p.Gly121=) c.492C= (p.Gly164=) c.483C= (p.Gly161=) c.474C= (p.Gly158=) c.345C= (p.Gly115=) n.69+2063G= | |
17 | g.8121877G>T | CA497955437 | HES7 | c.387C>A (p.Gly129=) c.372C>A (p.Gly124=) c.363C>A (p.Gly121=) c.492C>A (p.Gly164=) c.483C>A (p.Gly161=) c.474C>A (p.Gly158=) c.345C>A (p.Gly115=) n.69+2063G>T | gnomAD v4 |
17 | g.8121878C>A | CA397988379 | HES7 | c.386G>T (p.Gly129Val) c.371G>T (p.Gly124Val) c.362G>T (p.Gly121Val) c.491G>T (p.Gly164Val) c.482G>T (p.Gly161Val) c.473G>T (p.Gly158Val) c.344G>T (p.Gly115Val) n.69+2064C>A | gnomAD v4 |
17 | g.8121878C= | CA2246160588 | HES7 | c.386G= (p.Gly129=) c.371G= (p.Gly124=) c.362G= (p.Gly121=) c.491G= (p.Gly164=) c.482G= (p.Gly161=) c.473G= (p.Gly158=) c.344G= (p.Gly115=) n.69+2064C= | |
17 | g.8121878C>G | CA397988381 | HES7 | c.386G>C (p.Gly129Ala) c.371G>C (p.Gly124Ala) c.362G>C (p.Gly121Ala) c.491G>C (p.Gly164Ala) c.482G>C (p.Gly161Ala) c.473G>C (p.Gly158Ala) c.344G>C (p.Gly115Ala) n.69+2064C>G | |
17 | g.8121878C>T | CA397988383 | HES7 | c.386G>A (p.Gly129Asp) c.371G>A (p.Gly124Asp) c.362G>A (p.Gly121Asp) c.491G>A (p.Gly164Asp) c.482G>A (p.Gly161Asp) c.473G>A (p.Gly158Asp) c.344G>A (p.Gly115Asp) n.69+2064C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121879C>A | CA397988388 | HES7 | c.385G>T (p.Gly129Cys) c.370G>T (p.Gly124Cys) c.361G>T (p.Gly121Cys) c.490G>T (p.Gly164Cys) c.481G>T (p.Gly161Cys) c.472G>T (p.Gly158Cys) c.343G>T (p.Gly115Cys) n.69+2065C>A | gnomAD v4 |
17 | g.8121879C= | CA2246160592 | HES7 | c.385G= (p.Gly129=) c.370G= (p.Gly124=) c.361G= (p.Gly121=) c.490G= (p.Gly164=) c.481G= (p.Gly161=) c.472G= (p.Gly158=) c.343G= (p.Gly115=) n.69+2065C= | |
17 | g.8121879C>G | CA8368650 | HES7 | c.385G>C (p.Gly129Arg) c.370G>C (p.Gly124Arg) c.361G>C (p.Gly121Arg) c.490G>C (p.Gly164Arg) c.481G>C (p.Gly161Arg) c.472G>C (p.Gly158Arg) c.343G>C (p.Gly115Arg) n.69+2065C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121879C>T | CA397988386 | HES7 | c.385G>A (p.Gly129Ser) c.370G>A (p.Gly124Ser) c.361G>A (p.Gly121Ser) c.490G>A (p.Gly164Ser) c.481G>A (p.Gly161Ser) c.472G>A (p.Gly158Ser) c.343G>A (p.Gly115Ser) n.69+2065C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.8121880G>A | CA8368652 | HES7 | c.384C>T (p.His128=) c.369C>T (p.His123=) c.360C>T (p.His120=) c.489C>T (p.His163=) c.480C>T (p.His160=) c.471C>T (p.His157=) c.342C>T (p.His114=) n.69+2066G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.8121880G>C | CA397988391 | HES7 | c.384C>G (p.His128Gln) c.369C>G (p.His123Gln) c.360C>G (p.His120Gln) c.489C>G (p.His163Gln) c.480C>G (p.His160Gln) c.471C>G (p.His157Gln) c.342C>G (p.His114Gln) n.69+2066G>C | |
17 | g.8121880G= | CA2246160596 | HES7 | c.384C= (p.His128=) c.369C= (p.His123=) c.360C= (p.His120=) c.489C= (p.His163=) c.480C= (p.His160=) c.471C= (p.His157=) c.342C= (p.His114=) n.69+2066G= | |
17 | g.8121880G>T | CA8368651 | HES7 | c.384C>A (p.His128Gln) c.369C>A (p.His123Gln) c.360C>A (p.His120Gln) c.489C>A (p.His163Gln) c.480C>A (p.His160Gln) c.471C>A (p.His157Gln) c.342C>A (p.His114Gln) n.69+2066G>T | dbSNP ExAC gnomAD v2 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 |