Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15191788_15191833delinsATCCACGCATGTCCCCCCATTGAGACATCGGTGTCCTGGACAGTCG | CA2324749845 | NOTCH3 | c.714_759delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp238=) c.711_756delinsCGACTGTCCAGGACACCGATGTCTCAATGGGGGGACATGCGTGGAT (p.Asp237=) | |
19 | g.15191795_15191839del | CA340887 | NOTCH3 | c.714_758del (p.Asp239_Asp253del) c.711_755del (p.Asp238_Asp252del) | ClinVar dbSNP |
19 | g.15191798G>A | CA404532541 | NOTCH3 | c.749C>T (p.Thr250Ile) c.746C>T (p.Thr249Ile) | dbSNP gnomAD v4 |
19 | g.15191798G>C | CA404532538 | NOTCH3 | c.749C>G (p.Thr250Arg) c.746C>G (p.Thr249Arg) | dbSNP |
19 | g.15191798G>T | CA404532539 | NOTCH3 | c.749C>A (p.Thr250Lys) c.746C>A (p.Thr249Lys) | |
19 | g.15191799T>A | CA404532542 | NOTCH3 | c.748A>T (p.Thr250Ser) c.745A>T (p.Thr249Ser) | |
19 | g.15191799T>C | CA404532544 | NOTCH3 | c.748A>G (p.Thr250Ala) c.745A>G (p.Thr249Ala) | dbSNP |
19 | g.15191799T>G | CA404532546 | NOTCH3 | c.748A>C (p.Thr250Pro) c.745A>C (p.Thr249Pro) | |
19 | g.15191799T= | CA2324749851 | NOTCH3 | c.748A= (p.Thr250=) c.745A= (p.Thr249=) | |
19 | g.15191799dup | CA2580096672 | NOTCH3 | c.748dup (p.Thr250AsnfsTer10) c.745dup (p.Thr249AsnfsTer10) | ClinVar |
19 | g.15191800C>A | CA506078748 | NOTCH3 | c.747G>T (p.Gly249=) c.744G>T (p.Gly248=) | gnomAD v4 |
19 | g.15191800C= | CA2324749852 | NOTCH3 | c.747G= (p.Gly249=) c.744G= (p.Gly248=) | |
19 | g.15191800C>G | CA506078745 | NOTCH3 | c.747G>C (p.Gly249=) c.744G>C (p.Gly248=) | dbSNP |
19 | g.15191800C>T | CA506078747 | NOTCH3 | c.747G>A (p.Gly249=) c.744G>A (p.Gly248=) | dbSNP gnomAD v4 |
19 | g.15191805dup | CA632128097 | NOTCH3 | c.747dup (p.Thr250AspfsTer10) c.744dup (p.Thr249AspfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191805del | CA506078746 | NOTCH3 | c.747del (p.Thr250HisfsTer?) c.744del (p.Thr249HisfsTer?) | COSMIC COSMIC |
19 | g.15191801C>A | CA404532548 | NOTCH3 | c.746G>T (p.Gly249Val) c.743G>T (p.Gly248Val) | |
19 | g.15191801C>G | CA404532549 | NOTCH3 | c.746G>C (p.Gly249Ala) c.743G>C (p.Gly248Ala) | dbSNP |
19 | g.15191801C>T | CA404532552 | NOTCH3 | c.746G>A (p.Gly249Glu) c.743G>A (p.Gly248Glu) | dbSNP |
19 | g.15191802C>A | CA404532560 | NOTCH3 | c.745G>T (p.Gly249Trp) c.742G>T (p.Gly248Trp) | |
19 | g.15191802C= | CA2324749853 | NOTCH3 | c.745G= (p.Gly249=) c.742G= (p.Gly248=) | |
19 | g.15191802C>G | CA404532562 | NOTCH3 | c.745G>C (p.Gly249Arg) c.742G>C (p.Gly248Arg) | |
19 | g.15191802C>T | CA305777548 | NOTCH3 | c.745G>A (p.Gly249Arg) c.742G>A (p.Gly248Arg) | dbSNP |
19 | g.15191803C>A | CA506078750 | NOTCH3 | c.744G>T (p.Gly248=) c.741G>T (p.Gly247=) | |
19 | g.15191803C= | CA2324749854 | NOTCH3 | c.744G= (p.Gly248=) c.741G= (p.Gly247=) | |
19 | g.15191803C>G | CA506078751 | NOTCH3 | c.744G>C (p.Gly248=) c.741G>C (p.Gly247=) | |
19 | g.15191803C>T | CA506078752 | NOTCH3 | c.744G>A (p.Gly248=) c.741G>A (p.Gly247=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191804C>A | CA305777551 | NOTCH3 | c.743G>T (p.Gly248Val) c.740G>T (p.Gly247Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191804C= | CA2324749855 | NOTCH3 | c.743G= (p.Gly248=) c.740G= (p.Gly247=) | |
19 | g.15191804C>G | CA9263799 | NOTCH3 | c.743G>C (p.Gly248Ala) c.740G>C (p.Gly247Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191804C>T | CA404532564 | NOTCH3 | c.743G>A (p.Gly248Glu) c.740G>A (p.Gly247Glu) | dbSNP gnomAD v4 |
19 | g.15191804_15191805delinsAT | CA2580096673 | NOTCH3 | c.742_743delinsAT (p.Gly248Met) c.739_740delinsAT (p.Gly247Met) | ClinVar |
19 | g.15191805C>A | CA404532566 | NOTCH3 | c.742G>T (p.Gly248Trp) c.739G>T (p.Gly247Trp) | |
19 | g.15191805C>G | CA404532580 | NOTCH3 | c.742G>C (p.Gly248Arg) c.739G>C (p.Gly247Arg) | dbSNP |
19 | g.15191805C>T | CA404532577 | NOTCH3 | c.742G>A (p.Gly248Arg) c.739G>A (p.Gly247Arg) | |
19 | g.15191806A= | CA2324749856 | NOTCH3 | c.741T= (p.Asn247=) c.738T= (p.Asn246=) | |
19 | g.15191806A>C | CA404532582 | NOTCH3 | c.741T>G (p.Asn247Lys) c.738T>G (p.Asn246Lys) | ClinVar dbSNP |
19 | g.15191806A>G | CA506078756 | NOTCH3 | c.741T>C (p.Asn247=) c.738T>C (p.Asn246=) | dbSNP |
19 | g.15191806A>T | CA404532586 | NOTCH3 | c.741T>A (p.Asn247Lys) c.738T>A (p.Asn246Lys) | |
19 | g.15191807T>A | CA404532588 | NOTCH3 | c.740A>T (p.Asn247Ile) c.737A>T (p.Asn246Ile) | |
19 | g.15191807T>C | CA9263800 | NOTCH3 | c.740A>G (p.Asn247Ser) c.737A>G (p.Asn246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191807T>G | CA404532591 | NOTCH3 | c.740A>C (p.Asn247Thr) c.737A>C (p.Asn246Thr) | |
19 | g.15191807T= | CA2324749857 | NOTCH3 | c.740A= (p.Asn247=) c.737A= (p.Asn246=) | |
19 | g.15191808T>A | CA404532592 | NOTCH3 | c.739A>T (p.Asn247Tyr) c.736A>T (p.Asn246Tyr) | |
19 | g.15191808T>C | CA404532595 | NOTCH3 | c.739A>G (p.Asn247Asp) c.736A>G (p.Asn246Asp) | gnomAD v4 |
19 | g.15191808T>G | CA404532597 | NOTCH3 | c.739A>C (p.Asn247His) c.736A>C (p.Asn246His) | dbSNP gnomAD v4 |
19 | g.15191808T= | CA2324749858 | NOTCH3 | c.739A= (p.Asn247=) c.736A= (p.Asn246=) | |
19 | g.15191809G>A | CA506078760 | NOTCH3 | c.738C>T (p.Leu246=) c.735C>T (p.Leu245=) | ClinVar dbSNP |
19 | g.15191809G>C | CA506078761 | NOTCH3 | c.738C>G (p.Leu246=) c.735C>G (p.Leu245=) | |
19 | g.15191809G>T | CA506078762 | NOTCH3 | c.738C>A (p.Leu246=) c.735C>A (p.Leu245=) | dbSNP |
19 | g.15191810A>C | CA404532600 | NOTCH3 | c.737T>G (p.Leu246Arg) c.734T>G (p.Leu245Arg) | dbSNP |
19 | g.15191810A>G | CA404532603 | NOTCH3 | c.737T>C (p.Leu246Pro) c.734T>C (p.Leu245Pro) | dbSNP |
19 | g.15191810A>T | CA404532604 | NOTCH3 | c.737T>A (p.Leu246His) c.734T>A (p.Leu245His) | |
19 | g.15191811G>A | CA404532613 | NOTCH3 | c.736C>T (p.Leu246Phe) c.733C>T (p.Leu245Phe) | COSMIC COSMIC |
19 | g.15191811G>C | CA404532610 | NOTCH3 | c.736C>G (p.Leu246Val) c.733C>G (p.Leu245Val) | |
19 | g.15191811G>T | CA404532606 | NOTCH3 | c.736C>A (p.Leu246Ile) c.733C>A (p.Leu245Ile) | |
19 | g.15191812A>C | CA404532615 | NOTCH3 | c.735T>G (p.Cys245Trp) c.732T>G (p.Cys244Trp) | |
19 | g.15191812A>G | CA506078766 | NOTCH3 | c.735T>C (p.Cys245=) c.732T>C (p.Cys244=) | dbSNP |
19 | g.15191812A>T | CA404532617 | NOTCH3 | c.735T>A (p.Cys245Ter) c.732T>A (p.Cys244Ter) | |
19 | g.15191813C>A | CA404532618 | NOTCH3 | c.734G>T (p.Cys245Phe) c.731G>T (p.Cys244Phe) | |
19 | g.15191813C>G | CA404532623 | NOTCH3 | c.734G>C (p.Cys245Ser) c.731G>C (p.Cys244Ser) | |
19 | g.15191813C>T | CA404532626 | NOTCH3 | c.734G>A (p.Cys245Tyr) c.731G>A (p.Cys244Tyr) | |
19 | g.15191814A>C | CA404532648 | NOTCH3 | c.733T>G (p.Cys245Gly) c.730T>G (p.Cys244Gly) | |
19 | g.15191814A>G | CA404532652 | NOTCH3 | c.733T>C (p.Cys245Arg) c.730T>C (p.Cys244Arg) | ClinVar dbSNP |
19 | g.15191814A>T | CA404532654 | NOTCH3 | c.733T>A (p.Cys245Ser) c.730T>A (p.Cys244Ser) | |
19 | g.15191815T>A | CA506078768 | NOTCH3 | c.732A>T (p.Arg244=) c.729A>T (p.Arg243=) | |
19 | g.15191815T>C | CA506078772 | NOTCH3 | c.732A>G (p.Arg244=) c.729A>G (p.Arg243=) | |
19 | g.15191815T>G | CA506078770 | NOTCH3 | c.732A>C (p.Arg244=) c.729A>C (p.Arg243=) | |
19 | g.15191816C>A | CA404532657 | NOTCH3 | c.731G>T (p.Arg244Leu) c.728G>T (p.Arg243Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191816C= | CA2324749859 | NOTCH3 | c.731G= (p.Arg244=) c.728G= (p.Arg243=) | |
19 | g.15191816C>G | CA404532660 | NOTCH3 | c.731G>C (p.Arg244Pro) c.728G>C (p.Arg243Pro) | |
19 | g.15191816C>T | CA9263801 | NOTCH3 | c.731G>A (p.Arg244Gln) c.728G>A (p.Arg243Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191817G>A | CA404532670 | NOTCH3 | c.730C>T (p.Arg244Ter) c.727C>T (p.Arg243Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191817G>C | CA404532672 | NOTCH3 | c.730C>G (p.Arg244Gly) c.727C>G (p.Arg243Gly) | |
19 | g.15191817G= | CA2324749860 | NOTCH3 | c.730C= (p.Arg244=) c.727C= (p.Arg243=) | |
19 | g.15191817G>T | CA506078773 | NOTCH3 | c.730C>A (p.Arg244=) c.727C>A (p.Arg243=) | dbSNP |
19 | g.15191818G>A | CA506078774 | NOTCH3 | c.729C>T (p.His243=) c.726C>T (p.His242=) | gnomAD v4 |
19 | g.15191818G>C | CA404532679 | NOTCH3 | c.729C>G (p.His243Gln) c.726C>G (p.His242Gln) | |
19 | g.15191818G>T | CA404532676 | NOTCH3 | c.729C>A (p.His243Gln) c.726C>A (p.His242Gln) | |
19 | g.15191819T>A | CA404532682 | NOTCH3 | c.728A>T (p.His243Leu) c.725A>T (p.His242Leu) | |
19 | g.15191819T>C | CA404532684 | NOTCH3 | c.728A>G (p.His243Arg) c.725A>G (p.His242Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191819T>G | CA404532683 | NOTCH3 | c.728A>C (p.His243Pro) c.725A>C (p.His242Pro) | dbSNP |
19 | g.15191819T= | CA2324749861 | NOTCH3 | c.728A= (p.His243=) c.725A= (p.His242=) | |
19 | g.15191820G>A | CA9263802 | NOTCH3 | c.727C>T (p.His243Tyr) c.724C>T (p.His242Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191820G>C | CA404532688 | NOTCH3 | c.727C>G (p.His243Asp) c.724C>G (p.His242Asp) | |
19 | g.15191820G= | CA2324749862 | NOTCH3 | c.727C= (p.His243=) c.724C= (p.His242=) | |
19 | g.15191820G>T | CA404532687 | NOTCH3 | c.727C>A (p.His243Asn) c.724C>A (p.His242Asn) | |
19 | g.15191821T>A | CA506078776 | NOTCH3 | c.726A>T (p.Gly242=) c.723A>T (p.Gly241=) | |
19 | g.15191821T>C | CA506078778 | NOTCH3 | c.726A>G (p.Gly242=) c.723A>G (p.Gly241=) | dbSNP |
19 | g.15191821T>G | CA506078777 | NOTCH3 | c.726A>C (p.Gly242=) c.723A>C (p.Gly241=) | |
19 | g.15191822C>A | CA404532691 | NOTCH3 | c.725G>T (p.Gly242Val) c.722G>T (p.Gly241Val) | dbSNP |
19 | g.15191822C= | CA2324749863 | NOTCH3 | c.725G= (p.Gly242=) c.722G= (p.Gly241=) | |
19 | g.15191822C>G | CA404532694 | NOTCH3 | c.725G>C (p.Gly242Ala) c.722G>C (p.Gly241Ala) | dbSNP |
19 | g.15191822C>T | CA404532695 | NOTCH3 | c.725G>A (p.Gly242Glu) c.722G>A (p.Gly241Glu) | dbSNP |
19 | g.15191823C>A | CA404532699 | NOTCH3 | c.724G>T (p.Gly242Ter) c.721G>T (p.Gly241Ter) | |
19 | g.15191823C= | CA2324749864 | NOTCH3 | c.724G= (p.Gly242=) c.721G= (p.Gly241=) | |
19 | g.15191823C>G | CA404532708 | NOTCH3 | c.724G>C (p.Gly242Arg) c.721G>C (p.Gly241Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191823C>T | CA404532710 | NOTCH3 | c.724G>A (p.Gly242Arg) c.721G>A (p.Gly241Arg) | |
19 | g.15191824T>A | CA506078779 | NOTCH3 | c.723A>T (p.Pro241=) c.720A>T (p.Pro240=) | |
19 | g.15191824T>C | CA506078780 | NOTCH3 | c.723A>G (p.Pro241=) c.720A>G (p.Pro240=) | dbSNP gnomAD v4 |
19 | g.15191824T>G | CA506078781 | NOTCH3 | c.723A>C (p.Pro241=) c.720A>C (p.Pro240=) | |
19 | g.15191825G>A | CA404532714 | NOTCH3 | c.722C>T (p.Pro241Leu) c.719C>T (p.Pro240Leu) | |
19 | g.15191825G>C | CA404532718 | NOTCH3 | c.722C>G (p.Pro241Arg) c.719C>G (p.Pro240Arg) | |
19 | g.15191825G>T | CA404532722 | NOTCH3 | c.722C>A (p.Pro241Gln) c.719C>A (p.Pro240Gln) | |
19 | g.15191826G>A | CA404532724 | NOTCH3 | c.721C>T (p.Pro241Ser) c.718C>T (p.Pro240Ser) | |
19 | g.15191826G>C | CA404532725 | NOTCH3 | c.721C>G (p.Pro241Ala) c.718C>G (p.Pro240Ala) | |
19 | g.15191826G>T | CA404532726 | NOTCH3 | c.721C>A (p.Pro241Thr) c.718C>A (p.Pro240Thr) | |
19 | g.15191827A>C | CA404532733 | NOTCH3 | c.720T>G (p.Cys240Trp) c.717T>G (p.Cys239Trp) | |
19 | g.15191827A>G | CA506078782 | NOTCH3 | c.720T>C (p.Cys240=) c.717T>C (p.Cys239=) | |
19 | g.15191827A>T | CA404532730 | NOTCH3 | c.720T>A (p.Cys240Ter) c.717T>A (p.Cys239Ter) | gnomAD v4 |
19 | g.15191828C>A | CA404532736 | NOTCH3 | c.719G>T (p.Cys240Phe) c.716G>T (p.Cys239Phe) | |
19 | g.15191828C= | CA2324749865 | NOTCH3 | c.719G= (p.Cys240=) c.716G= (p.Cys239=) | |
19 | g.15191828C>G | CA404532739 | NOTCH3 | c.719G>C (p.Cys240Ser) c.716G>C (p.Cys239Ser) | |
19 | g.15191828C>T | CA404532746 | NOTCH3 | c.719G>A (p.Cys240Tyr) c.716G>A (p.Cys239Tyr) | ClinVar dbSNP |
19 | g.15191829A>C | CA404532748 | NOTCH3 | c.718T>G (p.Cys240Gly) c.715T>G (p.Cys239Gly) | |
19 | g.15191829A>G | CA404532750 | NOTCH3 | c.718T>C (p.Cys240Arg) c.715T>C (p.Cys239Arg) | |
19 | g.15191829A>T | CA404532752 | NOTCH3 | c.718T>A (p.Cys240Ser) c.715T>A (p.Cys239Ser) | |
19 | g.15191830G>A | CA506078783 | NOTCH3 | c.717C>T (p.Asp239=) c.714C>T (p.Asp238=) | |
19 | g.15191830G>C | CA404532754 | NOTCH3 | c.717C>G (p.Asp239Glu) c.714C>G (p.Asp238Glu) | dbSNP |
19 | g.15191830G>T | CA404532755 | NOTCH3 | c.717C>A (p.Asp239Glu) c.714C>A (p.Asp238Glu) | |
19 | g.15191831T>A | CA404532756 | NOTCH3 | c.716A>T (p.Asp239Val) c.713A>T (p.Asp238Val) | dbSNP gnomAD v4 |
19 | g.15191831T>C | CA404532758 | NOTCH3 | c.716A>G (p.Asp239Gly) c.713A>G (p.Asp238Gly) | |
19 | g.15191831T>G | CA404532760 | NOTCH3 | c.716A>C (p.Asp239Ala) c.713A>C (p.Asp238Ala) | |
19 | g.15191832C>A | CA404532765 | NOTCH3 | c.715G>T (p.Asp239Tyr) c.712G>T (p.Asp238Tyr) | gnomAD v4 |
19 | g.15191832C= | CA2324749866 | NOTCH3 | c.715G= (p.Asp239=) c.712G= (p.Asp238=) | |
19 | g.15191832C>G | CA9263804 | NOTCH3 | c.715G>C (p.Asp239His) c.712G>C (p.Asp238His) | dbSNP ExAC gnomAD v2 |
19 | g.15191832C>T | CA9263803 | NOTCH3 | c.715G>A (p.Asp239Asn) c.712G>A (p.Asp238Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.15191833G>A | CA9263805 | NOTCH3 | c.714C>T (p.Asp238=) c.711C>T (p.Asp237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191833G>C | CA404532768 | NOTCH3 | c.714C>G (p.Asp238Glu) c.711C>G (p.Asp237Glu) | |
19 | g.15191833G= | CA2324749867 | NOTCH3 | c.714C= (p.Asp238=) c.711C= (p.Asp237=) | |
19 | g.15191833G>T | CA404532773 | NOTCH3 | c.714C>A (p.Asp238Glu) c.711C>A (p.Asp237Glu) | |
19 | g.15191834T>A | CA404532777 | NOTCH3 | c.713A>T (p.Asp238Val) c.710A>T (p.Asp237Val) | |
19 | g.15191834T>C | CA404532779 | NOTCH3 | c.713A>G (p.Asp238Gly) c.710A>G (p.Asp237Gly) | |
19 | g.15191834T>G | CA404532781 | NOTCH3 | c.713A>C (p.Asp238Ala) c.710A>C (p.Asp237Ala) | dbSNP |
19 | g.15191835C>A | CA404532783 | NOTCH3 | c.712G>T (p.Asp238Tyr) c.709G>T (p.Asp237Tyr) | gnomAD v4 |
19 | g.15191835C= | CA2324749868 | NOTCH3 | c.712G= (p.Asp238=) c.709G= (p.Asp237=) | |
19 | g.15191835C>G | CA404532785 | NOTCH3 | c.712G>C (p.Asp238His) c.709G>C (p.Asp237His) | dbSNP |
19 | g.15191835C>T | CA305777599 | NOTCH3 | c.712G>A (p.Asp238Asn) c.709G>A (p.Asp237Asn) | dbSNP gnomAD v4 |
19 | g.15191836C>A | CA506078784 | NOTCH3 | c.711G>T (p.Val237=) c.708G>T (p.Val236=) | |
19 | g.15191836C>G | CA506078786 | NOTCH3 | c.711G>C (p.Val237=) c.708G>C (p.Val236=) | dbSNP |
19 | g.15191836C>T | CA506078785 | NOTCH3 | c.711G>A (p.Val237=) c.708G>A (p.Val236=) | dbSNP |
19 | g.15191837A>C | CA404532788 | NOTCH3 | c.710T>G (p.Val237Gly) c.707T>G (p.Val236Gly) | |
19 | g.15191837A>G | CA404532790 | NOTCH3 | c.710T>C (p.Val237Ala) c.707T>C (p.Val236Ala) | |
19 | g.15191837A>T | CA404532792 | NOTCH3 | c.710T>A (p.Val237Glu) c.707T>A (p.Val236Glu) | |
19 | g.15191838C>A | CA404532798 | NOTCH3 | c.709G>T (p.Val237Leu) c.706G>T (p.Val236Leu) | ClinVar dbSNP |
19 | g.15191838C= | CA2324749869 | NOTCH3 | c.709G= (p.Val237=) c.706G= (p.Val236=) | |
19 | g.15191838C>G | CA404532796 | NOTCH3 | c.709G>C (p.Val237Leu) c.706G>C (p.Val236Leu) | |
19 | g.15191838C>T | CA9263806 | NOTCH3 | c.709G>A (p.Val237Met) c.706G>A (p.Val236Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191839G>A | CA9263807 | NOTCH3 | c.708C>T (p.Asn236=) c.705C>T (p.Asn235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191839G>C | CA404532801 | NOTCH3 | c.708C>G (p.Asn236Lys) c.705C>G (p.Asn235Lys) | |
19 | g.15191839G= | CA2324749870 | NOTCH3 | c.708C= (p.Asn236=) c.705C= (p.Asn235=) | |
19 | g.15191839G>T | CA404532803 | NOTCH3 | c.708C>A (p.Asn236Lys) c.705C>A (p.Asn235Lys) | |
19 | g.15191840T>A | CA404532806 | NOTCH3 | c.707A>T (p.Asn236Ile) c.704A>T (p.Asn235Ile) | |
19 | g.15191840T>C | CA404532808 | NOTCH3 | c.707A>G (p.Asn236Ser) c.704A>G (p.Asn235Ser) | |
19 | g.15191840T>G | CA404532809 | NOTCH3 | c.707A>C (p.Asn236Thr) c.704A>C (p.Asn235Thr) | |
19 | g.15191841T>A | CA404532813 | NOTCH3 | c.706A>T (p.Asn236Tyr) c.703A>T (p.Asn235Tyr) | |
19 | g.15191841T>C | CA404532815 | NOTCH3 | c.706A>G (p.Asn236Asp) c.703A>G (p.Asn235Asp) | dbSNP |
19 | g.15191841T>G | CA404532817 | NOTCH3 | c.706A>C (p.Asn236His) c.703A>C (p.Asn235His) | |
19 | g.15191842C>A | CA506078787 | NOTCH3 | c.705G>T (p.Val235=) c.702G>T (p.Val234=) | gnomAD v4 |
19 | g.15191842C>G | CA506078789 | NOTCH3 | c.705G>C (p.Val235=) c.702G>C (p.Val234=) | |
19 | g.15191842C>T | CA506078788 | NOTCH3 | c.705G>A (p.Val235=) c.702G>A (p.Val234=) | |
19 | g.15191843A>C | CA404532820 | NOTCH3 | c.704T>G (p.Val235Gly) c.701T>G (p.Val234Gly) | |
19 | g.15191843A>G | CA404532823 | NOTCH3 | c.704T>C (p.Val235Ala) c.701T>C (p.Val234Ala) | |
19 | g.15191843A>T | CA404532824 | NOTCH3 | c.704T>A (p.Val235Glu) c.701T>A (p.Val234Glu) | |
19 | g.15191844C>A | CA404532835 | NOTCH3 | c.703G>T (p.Val235Leu) c.700G>T (p.Val234Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191844C= | CA2324749871 | NOTCH3 | c.703G= (p.Val235=) c.700G= (p.Val234=) | |
19 | g.15191844C>G | CA404532828 | NOTCH3 | c.703G>C (p.Val235Leu) c.700G>C (p.Val234Leu) | |
19 | g.15191844C>T | CA404532826 | NOTCH3 | c.703G>A (p.Val235Met) c.700G>A (p.Val234Met) | |
19 | g.15191845T>A | CA404532838 | NOTCH3 | c.702A>T (p.Glu234Asp) c.699A>T (p.Glu233Asp) | |
19 | g.15191845T>C | CA506078790 | NOTCH3 | c.702A>G (p.Glu234=) c.699A>G (p.Glu233=) | gnomAD v4 |
19 | g.15191845T>G | CA9263808 | NOTCH3 | c.702A>C (p.Glu234Asp) c.699A>C (p.Glu233Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191845T= | CA2324749872 | NOTCH3 | c.702A= (p.Glu234=) c.699A= (p.Glu233=) | |
19 | g.15191846T>A | CA404532857 | NOTCH3 | c.701A>T (p.Glu234Val) c.698A>T (p.Glu233Val) | |
19 | g.15191846T>C | CA404532858 | NOTCH3 | c.701A>G (p.Glu234Gly) c.698A>G (p.Glu233Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191846T>G | CA404532859 | NOTCH3 | c.701A>C (p.Glu234Ala) c.698A>C (p.Glu233Ala) | |
19 | g.15191846T= | CA2324749873 | NOTCH3 | c.701A= (p.Glu234=) c.698A= (p.Glu233=) | |
19 | g.15191847C>A | CA404532862 | NOTCH3 | c.700G>T (p.Glu234Ter) c.697G>T (p.Glu233Ter) | |
19 | g.15191847C>G | CA404532863 | NOTCH3 | c.700G>C (p.Glu234Gln) c.697G>C (p.Glu233Gln) | |
19 | g.15191847C>T | CA404532864 | NOTCH3 | c.700G>A (p.Glu234Lys) c.697G>A (p.Glu233Lys) | dbSNP gnomAD v4 |
19 | g.15191848A>C | CA404532867 | NOTCH3 | c.699T>G (p.Cys233Trp) c.696T>G (p.Cys232Trp) | ClinVar |
19 | g.15191848A>G | CA506078791 | NOTCH3 | c.699T>C (p.Cys233=) c.696T>C (p.Cys232=) | gnomAD v4 |
19 | g.15191848A>T | CA404532868 | NOTCH3 | c.699T>A (p.Cys233Ter) c.696T>A (p.Cys232Ter) | |
19 | g.15191849C>A | CA404532870 | NOTCH3 | c.698G>T (p.Cys233Phe) c.695G>T (p.Cys232Phe) | |
19 | g.15191849C>G | CA404532871 | NOTCH3 | c.698G>C (p.Cys233Ser) c.695G>C (p.Cys232Ser) | dbSNP |
19 | g.15191849C>T | CA404532873 | NOTCH3 | c.698G>A (p.Cys233Tyr) c.695G>A (p.Cys232Tyr) | ClinVar dbSNP |
19 | g.15191850A>C | CA404532878 | NOTCH3 | c.697T>G (p.Cys233Gly) c.694T>G (p.Cys232Gly) | |
19 | g.15191850A>G | CA404532879 | NOTCH3 | c.697T>C (p.Cys233Arg) c.694T>C (p.Cys232Arg) | |
19 | g.15191850A>T | CA404532880 | NOTCH3 | c.697T>A (p.Cys233Ser) c.694T>A (p.Cys232Ser) | |
19 | g.15191850_15191851insCACCAACCCCCAAACACACCCAACAC | CA2813728455 | NOTCH3 | c.696_697insGTGTTGGGTGTGTTTGGGGGTTGGTG (p.Cys233ValfsTer12) c.693_694insGTGTTGGGTGTGTTTGGGGGTTGGTG (p.Cys232ValfsTer12) | |
19 | g.15191851A= | CA2324749874 | NOTCH3 | c.696T= (p.Asn232=) c.693T= (p.Asn231=) | |
19 | g.15191851A>C | CA404532881 | NOTCH3 | c.696T>G (p.Asn232Lys) c.693T>G (p.Asn231Lys) | |
19 | g.15191851A>G | CA506078792 | NOTCH3 | c.696T>C (p.Asn232=) c.693T>C (p.Asn231=) | dbSNP gnomAD v4 |
19 | g.15191851A>T | CA404532884 | NOTCH3 | c.696T>A (p.Asn232Lys) c.693T>A (p.Asn231Lys) | |
19 | g.15191852T>A | CA404532886 | NOTCH3 | c.695A>T (p.Asn232Ile) c.692A>T (p.Asn231Ile) | |
19 | g.15191852T>C | CA404532888 | NOTCH3 | c.695A>G (p.Asn232Ser) c.692A>G (p.Asn231Ser) | |
19 | g.15191852T>G | CA404532892 | NOTCH3 | c.695A>C (p.Asn232Thr) c.692A>C (p.Asn231Thr) | |
19 | g.15191853T>A | CA404532894 | NOTCH3 | c.694A>T (p.Asn232Tyr) c.691A>T (p.Asn231Tyr) | dbSNP |
19 | g.15191853T>C | CA404532896 | NOTCH3 | c.694A>G (p.Asn232Asp) c.691A>G (p.Asn231Asp) | |
19 | g.15191853T>G | CA404532897 | NOTCH3 | c.694A>C (p.Asn232His) c.691A>C (p.Asn231His) | |
19 | g.15191853T= | CA2324749875 | NOTCH3 | c.694A= (p.Asn232=) c.691A= (p.Asn231=) | |
19 | g.15191854C>A | CA404532898 | NOTCH3 | c.693G>T (p.Gln231His) c.690G>T (p.Gln230His) | |
19 | g.15191854C= | CA2324749876 | NOTCH3 | c.693G= (p.Gln231=) c.690G= (p.Gln230=) | |
19 | g.15191854C>G | CA404532899 | NOTCH3 | c.693G>C (p.Gln231His) c.690G>C (p.Gln230His) | |
19 | g.15191854C>T | CA506078793 | NOTCH3 | c.693G>A (p.Gln231=) c.690G>A (p.Gln230=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191855T>A | CA404532902 | NOTCH3 | c.692A>T (p.Gln231Leu) c.689A>T (p.Gln230Leu) | |
19 | g.15191855T>C | CA404532904 | NOTCH3 | c.692A>G (p.Gln231Arg) c.689A>G (p.Gln230Arg) | |
19 | g.15191855T>G | CA404532905 | NOTCH3 | c.692A>C (p.Gln231Pro) c.689A>C (p.Gln230Pro) | |
19 | g.15191856G>A | CA404532915 | NOTCH3 | c.691C>T (p.Gln231Ter) c.688C>T (p.Gln230Ter) | dbSNP |
19 | g.15191856G>C | CA404532914 | NOTCH3 | c.691C>G (p.Gln231Glu) c.688C>G (p.Gln230Glu) | |
19 | g.15191856G>T | CA404532907 | NOTCH3 | c.691C>A (p.Gln231Lys) c.688C>A (p.Gln230Lys) | |
19 | g.15191857A>C | CA506078602 | NOTCH3 | c.690T>G (p.Gly230=) c.687T>G (p.Gly229=) | |
19 | g.15191857A>G | CA506078603 | NOTCH3 | c.690T>C (p.Gly230=) c.687T>C (p.Gly229=) | |
19 | g.15191857A>T | CA506078604 | NOTCH3 | c.690T>A (p.Gly230=) c.687T>A (p.Gly229=) | dbSNP |
19 | g.15191858C>A | CA404532917 | NOTCH3 | c.689G>T (p.Gly230Val) c.686G>T (p.Gly229Val) | |
19 | g.15191858C>G | CA404532919 | NOTCH3 | c.689G>C (p.Gly230Ala) c.686G>C (p.Gly229Ala) | |
19 | g.15191858C>T | CA404532920 | NOTCH3 | c.689G>A (p.Gly230Asp) c.686G>A (p.Gly229Asp) | dbSNP gnomAD v4 |
19 | g.15191859C>A | CA404532921 | NOTCH3 | c.688G>T (p.Gly230Cys) c.685G>T (p.Gly229Cys) | |
19 | g.15191859C= | CA2324749877 | NOTCH3 | c.688G= (p.Gly230=) c.685G= (p.Gly229=) | |
19 | g.15191859C>G | CA404532922 | NOTCH3 | c.688G>C (p.Gly230Arg) c.685G>C (p.Gly229Arg) | |
19 | g.15191859C>T | CA404532923 | NOTCH3 | c.688G>A (p.Gly230Ser) c.685G>A (p.Gly229Ser) | dbSNP gnomAD v4 |
19 | g.15191860C>A | CA404532924 | NOTCH3 | c.687G>T (p.Glu229Asp) c.684G>T (p.Glu228Asp) | dbSNP |
19 | g.15191860C= | CA2324749878 | NOTCH3 | c.687G= (p.Glu229=) c.684G= (p.Glu228=) | |
19 | g.15191860C>G | CA404532926 | NOTCH3 | c.687G>C (p.Glu229Asp) c.684G>C (p.Glu228Asp) | COSMIC COSMIC |
19 | g.15191860C>T | CA305777607 | NOTCH3 | c.687G>A (p.Glu229=) c.684G>A (p.Glu228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191861T>A | CA404532928 | NOTCH3 | c.686A>T (p.Glu229Val) c.683A>T (p.Glu228Val) | |
19 | g.15191861T>C | CA404532930 | NOTCH3 | c.686A>G (p.Glu229Gly) c.683A>G (p.Glu228Gly) | |
19 | g.15191861T>G | CA404532931 | NOTCH3 | c.686A>C (p.Glu229Ala) c.683A>C (p.Glu228Ala) | |
19 | g.15191862C>A | CA404532932 | NOTCH3 | c.685G>T (p.Glu229Ter) c.682G>T (p.Glu228Ter) | |
19 | g.15191862C= | CA2324749879 | NOTCH3 | c.685G= (p.Glu229=) c.682G= (p.Glu228=) | |
19 | g.15191862C>G | CA404532933 | NOTCH3 | c.685G>C (p.Glu229Gln) c.682G>C (p.Glu228Gln) | |
19 | g.15191862C>T | CA404532934 | NOTCH3 | c.685G>A (p.Glu229Lys) c.682G>A (p.Glu228Lys) | dbSNP |
19 | g.15191863A>C | CA404532937 | NOTCH3 | c.684T>G (p.Phe228Leu) c.681T>G (p.Phe227Leu) | |
19 | g.15191863A>G | CA506078605 | NOTCH3 | c.684T>C (p.Phe228=) c.681T>C (p.Phe227=) | |
19 | g.15191863A>T | CA404532938 | NOTCH3 | c.684T>A (p.Phe228Leu) c.681T>A (p.Phe227Leu) | |
19 | g.15191864A>C | CA404532942 | NOTCH3 | c.683T>G (p.Phe228Cys) c.680T>G (p.Phe227Cys) | |
19 | g.15191864A>G | CA404532943 | NOTCH3 | c.683T>C (p.Phe228Ser) c.680T>C (p.Phe227Ser) | |
19 | g.15191864A>T | CA404532945 | NOTCH3 | c.683T>A (p.Phe228Tyr) c.680T>A (p.Phe227Tyr) | |
19 | g.15191865A>C | CA404532946 | NOTCH3 | c.682T>G (p.Phe228Val) c.679T>G (p.Phe227Val) | |
19 | g.15191865A>G | CA404532948 | NOTCH3 | c.682T>C (p.Phe228Leu) c.679T>C (p.Phe227Leu) | |
19 | g.15191865A>T | CA404532949 | NOTCH3 | c.682T>A (p.Phe228Ile) c.679T>A (p.Phe227Ile) | |
19 | g.15191866C>A | CA506078606 | NOTCH3 | c.681G>T (p.Gly227=) c.678G>T (p.Gly226=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.15191866C= | CA2324749880 | NOTCH3 | c.681G= (p.Gly227=) c.678G= (p.Gly226=) | |
19 | g.15191866C>G | CA506078607 | NOTCH3 | c.681G>C (p.Gly227=) c.678G>C (p.Gly226=) | |
19 | g.15191866C>T | CA506078608 | NOTCH3 | c.681G>A (p.Gly227=) c.678G>A (p.Gly226=) | |
19 | g.15191867C>A | CA404532952 | NOTCH3 | c.680G>T (p.Gly227Val) c.677G>T (p.Gly226Val) | |
19 | g.15191867C>G | CA404532953 | NOTCH3 | c.680G>C (p.Gly227Ala) c.677G>C (p.Gly226Ala) | |
19 | g.15191867C>T | CA404532956 | NOTCH3 | c.680G>A (p.Gly227Glu) c.677G>A (p.Gly226Glu) | |
19 | g.15191868C>A | CA404532958 | NOTCH3 | c.680-1G>T (n.680-1G>T) c.677-1G>T (n.677-1G>T) | |
19 | g.15191868C>G | CA404532960 | NOTCH3 | c.680-1G>C (n.680-1G>C) c.677-1G>C (n.677-1G>C) | |
19 | g.15191868C>T | CA404532963 | NOTCH3 | c.680-1G>A (n.680-1G>A) c.677-1G>A (n.677-1G>A) | |
19 | g.15191869T>A | CA404532967 | NOTCH3 | c.680-2A>T (n.680-2A>T) c.677-2A>T (n.677-2A>T) | |
19 | g.15191869T>C | CA404532966 | NOTCH3 | c.680-2A>G (n.680-2A>G) c.677-2A>G (n.677-2A>G) | |
19 | g.15191869T>G | CA404532964 | NOTCH3 | c.680-2A>C (n.680-2A>C) c.677-2A>C (n.677-2A>C) | |
19 | g.15191870A= | CA2324749881 | NOTCH3 | c.680-3T= (n.680-3T=) c.677-3T= (n.677-3T=) | |
19 | g.15191870A>G | CA632128098 | NOTCH3 | c.680-3T>C (n.680-3T>C) c.677-3T>C (n.677-3T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191871G>A | CA305777609 | NOTCH3 | c.680-4C>T (n.680-4C>T) c.677-4C>T (n.677-4C>T) | dbSNP |
19 | g.15191871G= | CA2324749882 | NOTCH3 | c.680-4C= (n.680-4C=) c.677-4C= (n.677-4C=) | |
19 | g.15191871dup | CA2583065573 | NOTCH3 | c.680-4dup (n.680-4dup) c.677-4dup (n.677-4dup) | gnomAD v4 |
19 | g.15191872C>G | CA2583065574 | NOTCH3 | c.680-5G>C (n.680-5G>C) c.677-5G>C (n.677-5G>C) | gnomAD v4 |
19 | g.15191872C>T | CA2583065575 | NOTCH3 | c.680-5G>A (n.680-5G>A) c.677-5G>A (n.677-5G>A) | gnomAD v4 |
19 | g.15191874G= | CA2324749883 | NOTCH3 | c.680-7C= (n.680-7C=) c.677-7C= (n.677-7C=) | |
19 | g.15191874G>T | CA632128099 | NOTCH3 | c.680-7C>A (n.680-7C>A) c.677-7C>A (n.677-7C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191875G>A | CA2735643029 | NOTCH3 | c.680-8C>T (n.680-8C>T) c.677-8C>T (n.677-8C>T) | dbSNP |
19 | g.15191875G= | CA2324749884 | NOTCH3 | c.680-8C= (n.680-8C=) c.677-8C= (n.677-8C=) | |
19 | g.15191875G>T | CA632128100 | NOTCH3 | c.680-8C>A (n.680-8C>A) c.677-8C>A (n.677-8C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191876G>C | CA9263809 | NOTCH3 | c.680-9C>G (n.680-9C>G) c.677-9C>G (n.677-9C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191876G= | CA2324749885 | NOTCH3 | c.680-9C= (n.680-9C=) c.677-9C= (n.677-9C=) | |
19 | g.15191876G>T | CA2583065576 | NOTCH3 | c.680-9C>A (n.680-9C>A) c.677-9C>A (n.677-9C>A) | gnomAD v4 |
19 | g.15191877A>G | CA2583065577 | NOTCH3 | c.680-10T>C (n.680-10T>C) c.677-10T>C (n.677-10T>C) | gnomAD v4 |
19 | g.15191879G>C | CA2324749887 | NOTCH3 | c.680-12C>G (n.680-12C>G) c.677-12C>G (n.677-12C>G) | dbSNP gnomAD v4 |
19 | g.15191879G= | CA2324749886 | NOTCH3 | c.680-12C= (n.680-12C=) c.677-12C= (n.677-12C=) | |
19 | g.15191880G>A | CA2573156095 | NOTCH3 | c.680-13C>T (n.680-13C>T) c.677-13C>T (n.677-13C>T) | ClinVar dbSNP |
19 | g.15191881G>A | CA2813728456 | NOTCH3 | c.680-14C>T (n.680-14C>T) c.677-14C>T (n.677-14C>T) | |
19 | g.15191882G>A | CA632128101 | NOTCH3 | c.680-15C>T (n.680-15C>T) c.677-15C>T (n.677-15C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191882G= | CA2324749888 | NOTCH3 | c.680-15C= (n.680-15C=) c.677-15C= (n.677-15C=) | |
19 | g.15191882G>T | CA2735647929 | NOTCH3 | c.680-15C>A (n.680-15C>A) c.677-15C>A (n.677-15C>A) | dbSNP |
19 | g.15191883G>A | CA9263810 | NOTCH3 | c.680-16C>T (n.680-16C>T) c.677-16C>T (n.677-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191883G= | CA2324749889 | NOTCH3 | c.680-16C= (n.680-16C=) c.677-16C= (n.677-16C=) | |
19 | g.15191883G>T | CA2583065578 | NOTCH3 | c.680-16C>A (n.680-16C>A) c.677-16C>A (n.677-16C>A) | gnomAD v4 |
19 | g.15191884C>T | CA2735786608 | NOTCH3 | c.680-17G>A (n.680-17G>A) c.677-17G>A (n.677-17G>A) | dbSNP |
19 | g.15191887G>A | CA783621430 | NOTCH3 | c.680-20C>T (n.680-20C>T) c.677-20C>T (n.677-20C>T) | dbSNP |
19 | g.15191887G>C | CA632128102 | NOTCH3 | c.680-20C>G (n.680-20C>G) c.677-20C>G (n.677-20C>G) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191887G= | CA2324749890 | NOTCH3 | c.680-20C= (n.680-20C=) c.677-20C= (n.677-20C=) | |
19 | g.15191889A>T | CA2583065579 | NOTCH3 | c.680-22T>A (n.680-22T>A) c.677-22T>A (n.677-22T>A) | gnomAD v4 |
19 | g.15191889_15191890delinsAT | CA2324749891 | NOTCH3 | c.680-23_680-22delinsAT (n.680-23_680-22delinsAT) c.677-23_677-22delinsAT (n.677-23_677-22delinsAT) | |
19 | g.15191890del | CA2324749892 | NOTCH3 | c.680-23del (n.680-23del) c.677-23del (n.677-23del) | dbSNP |
19 | g.15191890T>A | CA9263811 | NOTCH3 | c.680-23A>T (n.680-23A>T) c.677-23A>T (n.677-23A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191890T>C | CA9263812 | NOTCH3 | c.680-23A>G (n.680-23A>G) c.677-23A>G (n.677-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191890T= | CA2324749893 | NOTCH3 | c.680-23A= (n.680-23A=) c.677-23A= (n.677-23A=) | |
19 | g.15191891G>A | CA9263813 | NOTCH3 | c.680-24C>T (n.680-24C>T) c.677-24C>T (n.677-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191891G= | CA2324749894 | NOTCH3 | c.680-24C= (n.680-24C=) c.677-24C= (n.677-24C=) | |
19 | g.15191892del | CA2735786654 | NOTCH3 | c.680-24del (n.680-24del) c.677-24del (n.677-24del) | dbSNP |
19 | g.15191892G>A | CA2735786658 | NOTCH3 | c.680-25C>T (n.680-25C>T) c.677-25C>T (n.677-25C>T) | dbSNP |
19 | g.15191893T>A | CA2735786690 | NOTCH3 | c.680-26A>T (n.680-26A>T) c.677-26A>T (n.677-26A>T) | dbSNP |
19 | g.15191893T>C | CA2583065580 | NOTCH3 | c.680-26A>G (n.680-26A>G) c.677-26A>G (n.677-26A>G) | gnomAD v4 |
19 | g.15191894C>G | CA2583065581 | NOTCH3 | c.680-27G>C (n.680-27G>C) c.677-27G>C (n.677-27G>C) | gnomAD v4 |
19 | g.15191894C>T | CA2735786692 | NOTCH3 | c.680-27G>A (n.680-27G>A) c.677-27G>A (n.677-27G>A) | dbSNP |
19 | g.15191895A= | CA2324749895 | NOTCH3 | c.680-28T= (n.680-28T=) c.677-28T= (n.677-28T=) | |
19 | g.15191895A>C | CA2324749896 | NOTCH3 | c.680-28T>G (n.680-28T>G) c.677-28T>G (n.677-28T>G) | dbSNP |
19 | g.15191895A>T | CA2735654573 | NOTCH3 | c.680-28T>A (n.680-28T>A) c.677-28T>A (n.677-28T>A) | dbSNP |
19 | g.15191896C>T | CA2735786698 | NOTCH3 | c.680-29G>A (n.680-29G>A) c.677-29G>A (n.677-29G>A) | dbSNP |
19 | g.15191897_15191919del | CA2583065582 | NOTCH3 | c.679+42_680-29del (n.679+42_680-29del) c.676+42_677-29del (n.676+42_677-29del) | gnomAD v4 |
19 | g.15191897C= | CA2324749897 | NOTCH3 | c.680-30G= (n.680-30G=) c.677-30G= (n.677-30G=) | |
19 | g.15191897C>T | CA9263814 | NOTCH3 | c.680-30G>A (n.680-30G>A) c.677-30G>A (n.677-30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191898G>A | CA305777642 | NOTCH3 | c.680-31C>T (n.680-31C>T) c.677-31C>T (n.677-31C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.15191898G>C | CA9263815 | NOTCH3 | c.680-31C>G (n.680-31C>G) c.677-31C>G (n.677-31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191898G= | CA2324749898 | NOTCH3 | c.680-31C= (n.680-31C=) c.677-31C= (n.677-31C=) |