| 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.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=) | |
| 19 | g.15191899C>A | CA2735786701 | NOTCH3 | c.680-32G>T (n.680-32G>T) c.677-32G>T (n.677-32G>T) | dbSNP |
| 19 | g.15191900C>A | CA2576658938 | NOTCH3 | c.680-33G>T (n.680-33G>T) c.677-33G>T (n.677-33G>T) | |
| 19 | g.15191900C= | CA2324749899 | NOTCH3 | c.680-33G= (n.680-33G=) c.677-33G= (n.677-33G=) | |
| 19 | g.15191900C>G | CA2735624615 | NOTCH3 | c.680-33G>C (n.680-33G>C) c.677-33G>C (n.677-33G>C) | dbSNP |
| 19 | g.15191900C>T | CA9263816 | NOTCH3 | c.680-33G>A (n.680-33G>A) c.677-33G>A (n.677-33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191901G>A | CA9263817 | NOTCH3 | c.680-34C>T (n.680-34C>T) c.677-34C>T (n.677-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191901G>C | CA2583065585 | NOTCH3 | c.680-34C>G (n.680-34C>G) c.677-34C>G (n.677-34C>G) | gnomAD v4 |
| 19 | g.15191901G= | CA2324749900 | NOTCH3 | c.680-34C= (n.680-34C=) c.677-34C= (n.677-34C=) | |
| 19 | g.15191902G>A | CA2583065586 | NOTCH3 | c.680-35C>T (n.680-35C>T) c.677-35C>T (n.677-35C>T) | gnomAD v4 |
| 19 | g.15191903G>A | CA632128103 | NOTCH3 | c.680-36C>T (n.680-36C>T) c.677-36C>T (n.677-36C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191903G>C | CA2583065587 | NOTCH3 | c.680-36C>G (n.680-36C>G) c.677-36C>G (n.677-36C>G) | dbSNP gnomAD v4 |
| 19 | g.15191903G= | CA2324749901 | NOTCH3 | c.680-36C= (n.680-36C=) c.677-36C= (n.677-36C=) | |
| 19 | g.15191904C>A | CA9263818 | NOTCH3 | c.680-37G>T (n.680-37G>T) c.677-37G>T (n.677-37G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191904C= | CA2324749902 | NOTCH3 | c.680-37G= (n.680-37G=) c.677-37G= (n.677-37G=) | |
| 19 | g.15191906G>A | CA783621431 | NOTCH3 | c.680-39C>T (n.680-39C>T) c.677-39C>T (n.677-39C>T) | dbSNP gnomAD v4 |
| 19 | g.15191906G= | CA2324749903 | NOTCH3 | c.680-39C= (n.680-39C=) c.677-39C= (n.677-39C=) | |
| 19 | g.15191907G>A | CA2735786706 | NOTCH3 | c.680-40C>T (n.680-40C>T) c.677-40C>T (n.677-40C>T) | dbSNP |
| 19 | g.15191908C>A | CA632128104 | NOTCH3 | c.680-41G>T (n.680-41G>T) c.677-41G>T (n.677-41G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191908C= | CA2324749904 | NOTCH3 | c.680-41G= (n.680-41G=) c.677-41G= (n.677-41G=) | |
| 19 | g.15191908C>G | CA2735651737 | NOTCH3 | c.680-41G>C (n.680-41G>C) c.677-41G>C (n.677-41G>C) | dbSNP |
| 19 | g.15191908C>T | CA2583065590 | NOTCH3 | c.680-41G>A (n.680-41G>A) c.677-41G>A (n.677-41G>A) | dbSNP gnomAD v4 |
| 19 | g.15191911G>A | CA2735786718 | NOTCH3 | c.680-44C>T (n.680-44C>T) c.677-44C>T (n.677-44C>T) | dbSNP |
| 19 | g.15191912C>A | CA2735786729 | NOTCH3 | c.680-45G>T (n.680-45G>T) c.677-45G>T (n.677-45G>T) | dbSNP |
| 19 | g.15191912C>G | CA2735786731 | NOTCH3 | c.680-45G>C (n.680-45G>C) c.677-45G>C (n.677-45G>C) | dbSNP |
| 19 | g.15191912C>T | CA2735786760 | NOTCH3 | c.680-45G>A (n.680-45G>A) c.677-45G>A (n.677-45G>A) | dbSNP |
| 19 | g.15191914G>C | CA2735650902 | NOTCH3 | c.680-47C>G (n.680-47C>G) c.677-47C>G (n.677-47C>G) | dbSNP |
| 19 | g.15191914G= | CA2324749905 | NOTCH3 | c.680-47C= (n.680-47C=) c.677-47C= (n.677-47C=) | |
| 19 | g.15191914G>T | CA783621432 | NOTCH3 | c.680-47C>A (n.680-47C>A) c.677-47C>A (n.677-47C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.15191916C>A | CA2583065591 | NOTCH3 | c.679+44G>T (n.679+44G>T) c.676+44G>T (n.676+44G>T) | gnomAD v4 |
| 19 | g.15191918C= | CA2324749906 | NOTCH3 | c.679+42G= (n.679+42G=) c.676+42G= (n.676+42G=) | |
| 19 | g.15191918C>G | CA632128105 | NOTCH3 | c.679+42G>C (n.679+42G>C) c.676+42G>C (n.676+42G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.15191918C>T | CA632128106 | NOTCH3 | c.679+42G>A (n.679+42G>A) c.676+42G>A (n.676+42G>A) | dbSNP gnomAD v2 |
| 19 | g.15191920A>T | CA2735786762 | NOTCH3 | c.679+40T>A (n.679+40T>A) c.676+40T>A (n.676+40T>A) | dbSNP |
| 19 | g.15191921C>A | CA2583065593 | NOTCH3 | c.679+39G>T (n.679+39G>T) c.676+39G>T (n.676+39G>T) | gnomAD v4 |
| 19 | g.15191921C= | CA2324749907 | NOTCH3 | c.679+39G= (n.679+39G=) c.676+39G= (n.676+39G=) | |
| 19 | g.15191921C>T | CA9263819 | NOTCH3 | c.679+39G>A (n.679+39G>A) c.676+39G>A (n.676+39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191922G>A | CA9263820 | NOTCH3 | c.679+38C>T (n.679+38C>T) c.676+38C>T (n.676+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191922G>C | CA2735619898 | NOTCH3 | c.679+38C>G (n.679+38C>G) c.676+38C>G (n.676+38C>G) | dbSNP |
| 19 | g.15191922G= | CA2324749908 | NOTCH3 | c.679+38C= (n.679+38C=) c.676+38C= (n.676+38C=) | |
| 19 | g.15191922G>T | CA2583065595 | NOTCH3 | c.679+38C>A (n.679+38C>A) c.676+38C>A (n.676+38C>A) | gnomAD v4 |
| 19 | g.15191923C>A | CA2735635925 | NOTCH3 | c.679+37G>T (n.679+37G>T) c.676+37G>T (n.676+37G>T) | dbSNP |
| 19 | g.15191923C= | CA2324749909 | NOTCH3 | c.679+37G= (n.679+37G=) c.676+37G= (n.676+37G=) | |
| 19 | g.15191923C>T | CA632128107 | NOTCH3 | c.679+37G>A (n.679+37G>A) c.676+37G>A (n.676+37G>A) | dbSNP gnomAD v2 |
| 19 | g.15191924C>A | CA2324749911 | NOTCH3 | c.679+36G>T (n.679+36G>T) c.676+36G>T (n.676+36G>T) | dbSNP |
| 19 | g.15191924C= | CA2324749910 | NOTCH3 | c.679+36G= (n.679+36G=) c.676+36G= (n.676+36G=) | |
| 19 | g.15191924C>T | CA9263821 | NOTCH3 | c.679+36G>A (n.679+36G>A) c.676+36G>A (n.676+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191925C>A | CA2735786774 | NOTCH3 | c.679+35G>T (n.679+35G>T) c.676+35G>T (n.676+35G>T) | dbSNP |
| 19 | g.15191926A= | CA2324749912 | NOTCH3 | c.679+34T= (n.679+34T=) c.676+34T= (n.676+34T=) | |
| 19 | g.15191926A>C | CA2735623992 | NOTCH3 | c.679+34T>G (n.679+34T>G) c.676+34T>G (n.676+34T>G) | dbSNP |
| 19 | g.15191926A>G | CA9263823 | NOTCH3 | c.679+34T>C (n.679+34T>C) c.676+34T>C (n.676+34T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191926A>T | CA2583065597 | NOTCH3 | c.679+34T>A (n.679+34T>A) c.676+34T>A (n.676+34T>A) | gnomAD v4 |
| 19 | g.15191927C= | CA2324749913 | NOTCH3 | c.679+33G= (n.679+33G=) c.676+33G= (n.676+33G=) | |
| 19 | g.15191927C>T | CA657366705 | NOTCH3 | c.679+33G>A (n.679+33G>A) c.676+33G>A (n.676+33G>A) | dbSNP gnomAD v4 COSMIC |
| 19 | g.15191930dup | CA9263822 | NOTCH3 | c.679+33dup (n.679+33dup) c.676+33dup (n.676+33dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.15191928C>A | CA9263824 | NOTCH3 | c.679+32G>T (n.679+32G>T) c.676+32G>T (n.676+32G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191928C= | CA2324749914 | NOTCH3 | c.679+32G= (n.679+32G=) c.676+32G= (n.676+32G=) | |
| 19 | g.15191928C>G | CA2583065601 | NOTCH3 | c.679+32G>C (n.679+32G>C) c.676+32G>C (n.676+32G>C) | gnomAD v4 |
| 19 | g.15191929C= | CA2324749917 | NOTCH3 | c.679+31G= (n.679+31G=) c.676+31G= (n.676+31G=) | |
| 19 | g.15191929C>T | CA2324749916 | NOTCH3 | c.679+31G>A (n.679+31G>A) c.676+31G>A (n.676+31G>A) | dbSNP gnomAD v4 |
| 19 | g.15191929_15191931delinsCCT | CA2324749915 | NOTCH3 | c.679+29_679+31delinsAGG (n.679+29_679+31delinsAGG) c.676+29_676+31delinsAGG (n.676+29_676+31delinsAGG) | |
| 19 | g.15191930C>A | CA2583065602 | NOTCH3 | c.679+30G>T (n.679+30G>T) c.676+30G>T (n.676+30G>T) | gnomAD v4 |
| 19 | g.15191932_15191933del | CA9263825 | NOTCH3 | c.679+29_679+30del (n.679+29_679+30del) c.676+29_676+30del (n.676+29_676+30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.15191930_15191931insCT | CA305777668 | NOTCH3 | c.679+29_679+30insAG (n.679+29_679+30insAG) c.676+29_676+30insAG (n.676+29_676+30insAG) | |
| 19 | g.15191931del | CA2583065603 | NOTCH3 | c.679+29del (n.679+29del) c.676+29del (n.676+29del) | gnomAD v4 |
| 19 | g.15191932C>A | CA2583065604 | NOTCH3 | c.679+28G>T (n.679+28G>T) c.676+28G>T (n.676+28G>T) | gnomAD v4 |
| 19 | g.15191932C= | CA2324749918 | NOTCH3 | c.679+28G= (n.679+28G=) c.676+28G= (n.676+28G=) | |
| 19 | g.15191932C>T | CA2324749919 | NOTCH3 | c.679+28G>A (n.679+28G>A) c.676+28G>A (n.676+28G>A) | dbSNP |