Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.15191962G>A | CA404533021 | NOTCH3 | c.677C>T (p.Pro226Leu) c.674C>T (p.Pro225Leu) | gnomAD v4 |
19 | g.15191962G>C | CA404533022 | NOTCH3 | c.677C>G (p.Pro226Arg) c.674C>G (p.Pro225Arg) | |
19 | g.15191962G>T | CA404533023 | NOTCH3 | c.677C>A (p.Pro226His) c.674C>A (p.Pro225His) | |
19 | g.15191963G>A | CA404533026 | NOTCH3 | c.676C>T (p.Pro226Ser) c.673C>T (p.Pro225Ser) | dbSNP COSMIC COSMIC |
19 | g.15191963G>C | CA404533035 | NOTCH3 | c.676C>G (p.Pro226Ala) c.673C>G (p.Pro225Ala) | |
19 | g.15191963G>T | CA404533037 | NOTCH3 | c.676C>A (p.Pro226Thr) c.673C>A (p.Pro225Thr) | |
19 | g.15191964A>C | CA506078611 | NOTCH3 | c.675T>G (p.Leu225=) c.672T>G (p.Leu224=) | |
19 | g.15191964A>G | CA506078612 | NOTCH3 | c.675T>C (p.Leu225=) c.672T>C (p.Leu224=) | |
19 | g.15191964A>T | CA506078613 | NOTCH3 | c.675T>A (p.Leu225=) c.672T>A (p.Leu224=) | |
19 | g.15191965A= | CA2324749927 | NOTCH3 | c.674T= (p.Leu225=) c.671T= (p.Leu224=) | |
19 | g.15191965A>C | CA9263831 | NOTCH3 | c.674T>G (p.Leu225Arg) c.671T>G (p.Leu224Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191965A>G | CA404533040 | NOTCH3 | c.674T>C (p.Leu225Pro) c.671T>C (p.Leu224Pro) | |
19 | g.15191965A>T | CA404533042 | NOTCH3 | c.674T>A (p.Leu225His) c.671T>A (p.Leu224His) | |
19 | g.15191966G>A | CA404533046 | NOTCH3 | c.673C>T (p.Leu225Phe) c.670C>T (p.Leu224Phe) | |
19 | g.15191966G>C | CA404533048 | NOTCH3 | c.673C>G (p.Leu225Val) c.670C>G (p.Leu224Val) | |
19 | g.15191966G>T | CA404533050 | NOTCH3 | c.673C>A (p.Leu225Ile) c.670C>A (p.Leu224Ile) | |
19 | g.15191967A>C | CA404533052 | NOTCH3 | c.672T>G (p.Cys224Trp) c.669T>G (p.Cys223Trp) | dbSNP |
19 | g.15191967A>G | CA506078614 | NOTCH3 | c.672T>C (p.Cys224=) c.669T>C (p.Cys223=) | |
19 | g.15191967A>T | CA404533053 | NOTCH3 | c.672T>A (p.Cys224Ter) c.669T>A (p.Cys223Ter) | |
19 | g.15191968C>A | CA404533056 | NOTCH3 | c.671G>T (p.Cys224Phe) c.668G>T (p.Cys223Phe) | |
19 | g.15191968C= | CA2324749928 | NOTCH3 | c.671G= (p.Cys224=) c.668G= (p.Cys223=) | |
19 | g.15191968C>G | CA404533061 | NOTCH3 | c.671G>C (p.Cys224Ser) c.668G>C (p.Cys223Ser) | dbSNP |
19 | g.15191968C>T | CA404533058 | NOTCH3 | c.671G>A (p.Cys224Tyr) c.668G>A (p.Cys223Tyr) | ClinVar dbSNP |
19 | g.15191969A>C | CA404533063 | NOTCH3 | c.670T>G (p.Cys224Gly) c.667T>G (p.Cys223Gly) | |
19 | g.15191969A>G | CA404533065 | NOTCH3 | c.670T>C (p.Cys224Arg) c.667T>C (p.Cys223Arg) | dbSNP |
19 | g.15191969A>T | CA404533066 | NOTCH3 | c.670T>A (p.Cys224Ser) c.667T>A (p.Cys223Ser) | |
19 | g.15191970G>A | CA506078616 | NOTCH3 | c.669C>T (p.Ala223=) c.666C>T (p.Ala222=) | gnomAD v4 |
19 | g.15191970G>C | CA9263832 | NOTCH3 | c.669C>G (p.Ala223=) c.666C>G (p.Ala222=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.15191970G= | CA2324749929 | NOTCH3 | c.669C= (p.Ala223=) c.666C= (p.Ala222=) | |
19 | g.15191970G>T | CA506078615 | NOTCH3 | c.669C>A (p.Ala223=) c.666C>A (p.Ala222=) | |
19 | g.15191971G>A | CA9263833 | NOTCH3 | c.668C>T (p.Ala223Val) c.665C>T (p.Ala222Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191971G>C | CA404533070 | NOTCH3 | c.668C>G (p.Ala223Gly) c.665C>G (p.Ala222Gly) | |
19 | g.15191971G= | CA2324749930 | NOTCH3 | c.668C= (p.Ala223=) c.665C= (p.Ala222=) | |
19 | g.15191971G>T | CA404533072 | NOTCH3 | c.668C>A (p.Ala223Asp) c.665C>A (p.Ala222Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.15191972C>A | CA404533074 | NOTCH3 | c.667G>T (p.Ala223Ser) c.664G>T (p.Ala222Ser) | |
19 | g.15191972C>G | CA404533077 | NOTCH3 | c.667G>C (p.Ala223Pro) c.664G>C (p.Ala222Pro) | |
19 | g.15191972C>T | CA404533078 | NOTCH3 | c.667G>A (p.Ala223Thr) c.664G>A (p.Ala222Thr) | |
19 | g.15191974_15191975del | CA2813728458 | NOTCH3 | c.666_667del (p.Ala223LeufsTer6) c.663_664del (p.Ala222LeufsTer6) | |
19 | g.15191973A>C | CA404533080 | NOTCH3 | c.666T>G (p.Cys222Trp) c.663T>G (p.Cys221Trp) | dbSNP |
19 | g.15191973A>G | CA506078618 | NOTCH3 | c.666T>C (p.Cys222=) c.663T>C (p.Cys221=) | |
19 | g.15191973A>T | CA404533081 | NOTCH3 | c.666T>A (p.Cys222Ter) c.663T>A (p.Cys221Ter) | dbSNP |
19 | g.15191974C>A | CA404533084 | NOTCH3 | c.665G>T (p.Cys222Phe) c.662G>T (p.Cys221Phe) | |
19 | g.15191974C= | CA2324749931 | NOTCH3 | c.665G= (p.Cys222=) c.662G= (p.Cys221=) | |
19 | g.15191974C>G | CA404533083 | NOTCH3 | c.665G>C (p.Cys222Ser) c.662G>C (p.Cys221Ser) | ClinVar |
19 | g.15191974C>T | CA404533082 | NOTCH3 | c.665G>A (p.Cys222Tyr) c.662G>A (p.Cys221Tyr) | ClinVar dbSNP |
19 | g.15191975A>C | CA404533086 | NOTCH3 | c.664T>G (p.Cys222Gly) c.661T>G (p.Cys221Gly) | |
19 | g.15191975A>G | CA404533087 | NOTCH3 | c.664T>C (p.Cys222Arg) c.661T>C (p.Cys221Arg) | ClinVar |
19 | g.15191975A>T | CA404533093 | NOTCH3 | c.664T>A (p.Cys222Ser) c.661T>A (p.Cys221Ser) | |
19 | g.15191976G>A | CA506078620 | NOTCH3 | c.663C>T (p.Asp221=) c.660C>T (p.Asp220=) | gnomAD v4 |
19 | g.15191976G>C | CA404533095 | NOTCH3 | c.663C>G (p.Asp221Glu) c.660C>G (p.Asp220Glu) |