Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.119915448C>ACA341872203NOTCH2c.7274G>T (p.Trp2425Leu)
c.7157G>T (p.Trp2386Leu)
c.7262G>T (p.Trp2421Leu)
1g.119915448C>GCA341872210NOTCH2c.7274G>C (p.Trp2425Ser)
c.7157G>C (p.Trp2386Ser)
c.7262G>C (p.Trp2421Ser)
1g.119915448C>TCA341872205NOTCH2c.7274G>A (p.Trp2425Ter)
c.7157G>A (p.Trp2386Ter)
c.7262G>A (p.Trp2421Ter)
1g.119915449A>CCA341872214NOTCH2c.7273T>G (p.Trp2425Gly)
c.7156T>G (p.Trp2386Gly)
c.7261T>G (p.Trp2421Gly)
1g.119915449A>GCA341872216NOTCH2c.7273T>C (p.Trp2425Arg)
c.7156T>C (p.Trp2386Arg)
c.7261T>C (p.Trp2421Arg)
1g.119915449A>TCA341872224NOTCH2c.7273T>A (p.Trp2425Arg)
c.7156T>A (p.Trp2386Arg)
c.7261T>A (p.Trp2421Arg)
1g.119915450C>ACA341872226NOTCH2c.7272G>T (p.Gln2424His)
c.7155G>T (p.Gln2385His)
c.7260G>T (p.Gln2420His)
1g.119915450C>GCA341872228NOTCH2c.7272G>C (p.Gln2424His)
c.7155G>C (p.Gln2385His)
c.7260G>C (p.Gln2420His)
1g.119915450C>TCA420033704NOTCH2c.7272G>A (p.Gln2424=)
c.7155G>A (p.Gln2385=)
c.7260G>A (p.Gln2420=)
 gnomAD v4
1g.119915451T>ACA341872235NOTCH2c.7271A>T (p.Gln2424Leu)
c.7154A>T (p.Gln2385Leu)
c.7259A>T (p.Gln2420Leu)
1g.119915451T>CCA341872237NOTCH2c.7271A>G (p.Gln2424Arg)
c.7154A>G (p.Gln2385Arg)
c.7259A>G (p.Gln2420Arg)
1g.119915451T>GCA341872232NOTCH2c.7271A>C (p.Gln2424Pro)
c.7154A>C (p.Gln2385Pro)
c.7259A>C (p.Gln2420Pro)
1g.119915452G>ACA341872241NOTCH2c.7270C>T (p.Gln2424Ter)
c.7153C>T (p.Gln2385Ter)
c.7258C>T (p.Gln2420Ter)
 dbSNP
1g.119915452G>CCA341872240NOTCH2c.7270C>G (p.Gln2424Glu)
c.7153C>G (p.Gln2385Glu)
c.7258C>G (p.Gln2420Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.119915452G=CA1192514404NOTCH2c.7270C= (p.Gln2424=)
c.7153C= (p.Gln2385=)
c.7258C= (p.Gln2420=)
1g.119915452G>TCA341872242NOTCH2c.7270C>A (p.Gln2424Lys)
c.7153C>A (p.Gln2385Lys)
c.7258C>A (p.Gln2420Lys)
1g.119915453delCA2696935867NOTCH2c.7270del (p.Gln2424SerfsTer16)
c.7153del (p.Gln2385SerfsTer16)
c.7258del (p.Gln2420SerfsTer16)
 dbSNP
1g.119915453G>ACA420033716NOTCH2c.7269C>T (p.Asp2423=)
c.7152C>T (p.Asp2384=)
c.7257C>T (p.Asp2419=)
1g.119915453G>CCA341872244NOTCH2c.7269C>G (p.Asp2423Glu)
c.7152C>G (p.Asp2384Glu)
c.7257C>G (p.Asp2419Glu)
1g.119915453G>TCA341872246NOTCH2c.7269C>A (p.Asp2423Glu)
c.7152C>A (p.Asp2384Glu)
c.7257C>A (p.Asp2419Glu)
 ClinVar
1g.119915454T>ACA341872250NOTCH2c.7268A>T (p.Asp2423Val)
c.7151A>T (p.Asp2384Val)
c.7256A>T (p.Asp2419Val)
 dbSNP
1g.119915454T>CCA341872252NOTCH2c.7268A>G (p.Asp2423Gly)
c.7151A>G (p.Asp2384Gly)
c.7256A>G (p.Asp2419Gly)
1g.119915454T>GCA341872257NOTCH2c.7268A>C (p.Asp2423Ala)
c.7151A>C (p.Asp2384Ala)
c.7256A>C (p.Asp2419Ala)
1g.119915455C>ACA341872262NOTCH2c.7267G>T (p.Asp2423Tyr)
c.7150G>T (p.Asp2384Tyr)
c.7255G>T (p.Asp2419Tyr)
1g.119915455C>GCA341872268NOTCH2c.7267G>C (p.Asp2423His)
c.7150G>C (p.Asp2384His)
c.7255G>C (p.Asp2419His)
1g.119915455C>TCA341872271NOTCH2c.7267G>A (p.Asp2423Asn)
c.7150G>A (p.Asp2384Asn)
c.7255G>A (p.Asp2419Asn)
1g.119915456A>CCA420033753NOTCH2c.7266T>G (p.Pro2422=)
c.7149T>G (p.Pro2383=)
c.7254T>G (p.Pro2418=)
1g.119915456A>GCA420033750NOTCH2c.7266T>C (p.Pro2422=)
c.7149T>C (p.Pro2383=)
c.7254T>C (p.Pro2418=)
1g.119915456A>TCA420033748NOTCH2c.7266T>A (p.Pro2422=)
c.7149T>A (p.Pro2383=)
c.7254T>A (p.Pro2418=)
1g.119915457G>ACA341872275NOTCH2c.7265C>T (p.Pro2422Leu)
c.7148C>T (p.Pro2383Leu)
c.7253C>T (p.Pro2418Leu)
 ClinVar
1g.119915457G>CCA341872278NOTCH2c.7265C>G (p.Pro2422Arg)
c.7148C>G (p.Pro2383Arg)
c.7253C>G (p.Pro2418Arg)
1g.119915457G>TCA341872280NOTCH2c.7265C>A (p.Pro2422His)
c.7148C>A (p.Pro2383His)
c.7253C>A (p.Pro2418His)
1g.119915458G>ACA341872294NOTCH2c.7264C>T (p.Pro2422Ser)
c.7147C>T (p.Pro2383Ser)
c.7252C>T (p.Pro2418Ser)
1g.119915458G>CCA341872291NOTCH2c.7264C>G (p.Pro2422Ala)
c.7147C>G (p.Pro2383Ala)
c.7252C>G (p.Pro2418Ala)
1g.119915458G>TCA341872288NOTCH2c.7264C>A (p.Pro2422Thr)
c.7147C>A (p.Pro2383Thr)
c.7252C>A (p.Pro2418Thr)
1g.119915459A=CA1143695248NOTCH2c.7263T= (p.Ser2421=)
c.7146T= (p.Ser2382=)
c.7251T= (p.Ser2417=)
1g.119915459A>CCA420033773NOTCH2c.7263T>G (p.Ser2421=)
c.7146T>G (p.Ser2382=)
c.7251T>G (p.Ser2417=)
1g.119915459A>GCA420033775NOTCH2c.7263T>C (p.Ser2421=)
c.7146T>C (p.Ser2382=)
c.7251T>C (p.Ser2417=)
1g.119915459A>TCA1039297NOTCH2c.7263T>A (p.Ser2421=)
c.7146T>A (p.Ser2382=)
c.7251T>A (p.Ser2417=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.119915460G>ACA341872301NOTCH2c.7262C>T (p.Ser2421Phe)
c.7145C>T (p.Ser2382Phe)
c.7250C>T (p.Ser2417Phe)
1g.119915460G>CCA341872305NOTCH2c.7262C>G (p.Ser2421Cys)
c.7145C>G (p.Ser2382Cys)
c.7250C>G (p.Ser2417Cys)
1g.119915460G>TCA341872307NOTCH2c.7262C>A (p.Ser2421Tyr)
c.7145C>A (p.Ser2382Tyr)
c.7250C>A (p.Ser2417Tyr)
1g.119915461A>CCA341872309NOTCH2c.7261T>G (p.Ser2421Ala)
c.7144T>G (p.Ser2382Ala)
c.7249T>G (p.Ser2417Ala)
1g.119915461A>GCA341872313NOTCH2c.7261T>C (p.Ser2421Pro)
c.7144T>C (p.Ser2382Pro)
c.7249T>C (p.Ser2417Pro)
1g.119915461A>TCA341872314NOTCH2c.7261T>A (p.Ser2421Thr)
c.7144T>A (p.Ser2382Thr)
c.7249T>A (p.Ser2417Thr)
1g.119915462C>ACA341872317NOTCH2c.7260G>T (p.Glu2420Asp)
c.7143G>T (p.Glu2381Asp)
c.7248G>T (p.Glu2416Asp)
1g.119915462C=CA1192514405NOTCH2c.7260G= (p.Glu2420=)
c.7143G= (p.Glu2381=)
c.7248G= (p.Glu2416=)
1g.119915462C>GCA341872318NOTCH2c.7260G>C (p.Glu2420Asp)
c.7143G>C (p.Glu2381Asp)
c.7248G>C (p.Glu2416Asp)
 dbSNP
1g.119915462C>TCA420033786NOTCH2c.7260G>A (p.Glu2420=)
c.7143G>A (p.Glu2381=)
c.7248G>A (p.Glu2416=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.119915464_119915465delCA645528287NOTCH2c.7259_7260del (p.Glu2420ValfsTer3)
c.7142_7143del (p.Glu2381ValfsTer3)
c.7247_7248del (p.Glu2416ValfsTer3)
 COSMIC

Number of alleles fetched