Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.10658491C>A | CA408239937 | JAG1 | c.671G>T (p.Trp224Leu) n.537G>T | |
20 | g.10658491C>G | CA408239938 | JAG1 | c.671G>C (p.Trp224Ser) n.537G>C | |
20 | g.10658491C>T | CA408239939 | JAG1 | c.671G>A (p.Trp224Ter) n.537G>A | COSMIC COSMIC |
20 | g.10658492A>C | CA408239941 | JAG1 | c.670T>G (p.Trp224Gly) n.536T>G | |
20 | g.10658492A>G | CA408239942 | JAG1 | c.670T>C (p.Trp224Arg) n.536T>C | |
20 | g.10658492A>T | CA408239940 | JAG1 | c.670T>A (p.Trp224Arg) n.536T>A | |
20 | g.10658493G>A | CA509816376 | JAG1 | c.669C>T (p.Gly223=) n.535C>T | |
20 | g.10658493G>C | CA509816378 | JAG1 | c.669C>G (p.Gly223=) n.535C>G | |
20 | g.10658493G>T | CA509816377 | JAG1 | c.669C>A (p.Gly223=) n.535C>A | |
20 | g.10658494C>A | CA408239945 | JAG1 | c.668G>T (p.Gly223Val) n.534G>T | |
20 | g.10658494C>G | CA408239943 | JAG1 | c.668G>C (p.Gly223Ala) n.534G>C | |
20 | g.10658494C>T | CA408239944 | JAG1 | c.668G>A (p.Gly223Asp) n.534G>A | gnomAD v4 |
20 | g.10658495C>A | CA408239946 | JAG1 | c.667G>T (p.Gly223Cys) n.533G>T | |
20 | g.10658495C>G | CA408239947 | JAG1 | c.667G>C (p.Gly223Arg) n.533G>C | |
20 | g.10658495C>T | CA408239948 | JAG1 | c.667G>A (p.Gly223Ser) n.533G>A | gnomAD v4 |
20 | g.10658496T>A | CA408239949 | JAG1 | c.666A>T (p.Glu222Asp) n.532A>T | |
20 | g.10658496T>C | CA509816380 | JAG1 | c.666A>G (p.Glu222=) n.532A>G | gnomAD v4 |
20 | g.10658496T>G | CA408239950 | JAG1 | c.666A>C (p.Glu222Asp) n.532A>C | |
20 | g.10658497T>A | CA408239951 | JAG1 | c.665A>T (p.Glu222Val) n.531A>T | |
20 | g.10658497T>C | CA9765105 | JAG1 | c.665A>G (p.Glu222Gly) n.531A>G | ClinVar dbSNP ExAC gnomAD v2 |
20 | g.10658497T>G | CA408239952 | JAG1 | c.665A>C (p.Glu222Ala) n.531A>C | |
20 | g.10658497T= | CA2349888388 | JAG1 | c.665A= (p.Glu222=) n.531A= | |
20 | g.10658497_10658498delinsTC | CA2349888387 | JAG1 | c.664_665delinsGA (p.Glu222=) n.530_531delinsGA | |
20 | g.10658498C>A | CA408239953 | JAG1 | c.664G>T (p.Glu222Ter) n.530G>T | COSMIC COSMIC |
20 | g.10658498C= | CA2349888389 | JAG1 | c.664G= (p.Glu222=) n.530G= | |
20 | g.10658498C>G | CA408239954 | JAG1 | c.664G>C (p.Glu222Gln) n.530G>C | |
20 | g.10658498C>T | CA408239955 | JAG1 | c.664G>A (p.Glu222Lys) n.530G>A | dbSNP |
20 | g.10658499del | CA324651 | JAG1 | c.664del (p.Glu222LysfsTer?) n.530del | ClinVar dbSNP |
20 | g.10658499C>A | CA408239956 | JAG1 | c.663G>T (p.Met221Ile) n.529G>T | dbSNP |
20 | g.10658499C= | CA2349888390 | JAG1 | c.663G= (p.Met221=) n.529G= | |
20 | g.10658499C>G | CA408239958 | JAG1 | c.663G>C (p.Met221Ile) n.529G>C | |
20 | g.10658499C>T | CA408239957 | JAG1 | c.663G>A (p.Met221Ile) n.529G>A | |
20 | g.10658500A>C | CA408239959 | JAG1 | c.662T>G (p.Met221Arg) n.528T>G | |
20 | g.10658500A>G | CA408239960 | JAG1 | c.662T>C (p.Met221Thr) n.528T>C | |
20 | g.10658500A>T | CA408239961 | JAG1 | c.662T>A (p.Met221Lys) n.528T>A | |
20 | g.10658501T>A | CA408239962 | JAG1 | c.661A>T (p.Met221Leu) n.527A>T | |
20 | g.10658501T>C | CA408239963 | JAG1 | c.661A>G (p.Met221Val) n.527A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.10658501T>G | CA408239964 | JAG1 | c.661A>C (p.Met221Leu) n.527A>C | |
20 | g.10658501T= | CA2349888391 | JAG1 | c.661A= (p.Met221=) n.527A= | |
20 | g.10658501_10658503delinsCA | CA2695229552 | JAG1 | c.659_661delinsTG (p.Cys220LeufsTer?) n.525_527delinsTG | |
20 | g.10658502G>A | CA509816382 | JAG1 | c.660C>T (p.Cys220=) n.526C>T | |
20 | g.10658502G>C | CA408239965 | JAG1 | c.660C>G (p.Cys220Trp) n.526C>G | |
20 | g.10658502G>T | CA408239966 | JAG1 | c.660C>A (p.Cys220Ter) n.526C>A | |
20 | g.10658503C>A | CA408239967 | JAG1 | c.659G>T (p.Cys220Phe) n.525G>T | ClinVar COSMIC COSMIC |
20 | g.10658503C>G | CA408239968 | JAG1 | c.659G>C (p.Cys220Ser) n.525G>C | |
20 | g.10658503C>T | CA408239969 | JAG1 | c.659G>A (p.Cys220Tyr) n.525G>A | COSMIC COSMIC |
20 | g.10658504A>C | CA408239972 | JAG1 | c.658T>G (p.Cys220Gly) n.524T>G | |
20 | g.10658504A>G | CA408239971 | JAG1 | c.658T>C (p.Cys220Arg) n.524T>C | |
20 | g.10658504A>T | CA408239970 | JAG1 | c.658T>A (p.Cys220Ser) n.524T>A | |
20 | g.10658505A>C | CA509816383 | JAG1 | c.657T>G (p.Thr219=) n.523T>G | |
20 | g.10658505A>G | CA509816385 | JAG1 | c.657T>C (p.Thr219=) n.523T>C | |
20 | g.10658505A>T | CA509816387 | JAG1 | c.657T>A (p.Thr219=) n.523T>A | |
20 | g.10658506G>A | CA9765106 | JAG1 | c.656C>T (p.Thr219Ile) n.522C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.10658506G>C | CA408239973 | JAG1 | c.656C>G (p.Thr219Ser) n.522C>G | |
20 | g.10658506G= | CA2349888392 | JAG1 | c.656C= (p.Thr219=) n.522C= | |
20 | g.10658506G>T | CA408239974 | JAG1 | c.656C>A (p.Thr219Asn) n.522C>A | |
20 | g.10658507T>A | CA408239975 | JAG1 | c.655A>T (p.Thr219Ser) n.521A>T | |
20 | g.10658507T>C | CA408239976 | JAG1 | c.655A>G (p.Thr219Ala) n.521A>G | gnomAD v4 |
20 | g.10658507T>G | CA408239977 | JAG1 | c.655A>C (p.Thr219Pro) n.521A>C | |
20 | g.10658510dup | CA2499225677 | JAG1 | c.655dup (p.Thr219AsnfsTer12) n.521dup | ClinVar dbSNP |
20 | g.10658510del | CA2695229553 | JAG1 | c.655del (p.Thr219LeufsTer?) n.521del | |
20 | g.10658508T>A | CA408239978 | JAG1 | c.654A>T (p.Lys218Asn) n.520A>T | |
20 | g.10658508T>C | CA509816388 | JAG1 | c.654A>G (p.Lys218=) n.520A>G | gnomAD v4 |
20 | g.10658508T>G | CA408239979 | JAG1 | c.654A>C (p.Lys218Asn) n.520A>C | |
20 | g.10658509T>A | CA408239980 | JAG1 | c.653A>T (p.Lys218Ile) n.519A>T | |
20 | g.10658509T>C | CA408239981 | JAG1 | c.653A>G (p.Lys218Arg) n.519A>G | |
20 | g.10658509T>G | CA408239982 | JAG1 | c.653A>C (p.Lys218Thr) n.519A>C | |
20 | g.10658510T>A | CA408239983 | JAG1 | c.652A>T (p.Lys218Ter) n.518A>T | |
20 | g.10658510T>C | CA408239984 | JAG1 | c.652A>G (p.Lys218Glu) n.518A>G | |
20 | g.10658510T>G | CA408239985 | JAG1 | c.652A>C (p.Lys218Gln) n.518A>C | |
20 | g.10658511G>A | CA509816390 | JAG1 | c.651C>T (p.Asn217=) n.517C>T | |
20 | g.10658511G>C | CA408239987 | JAG1 | c.651C>G (p.Asn217Lys) n.517C>G | |
20 | g.10658511G>T | CA408239986 | JAG1 | c.651C>A (p.Asn217Lys) n.517C>A | ClinVar |
20 | g.10658512T>A | CA408239988 | JAG1 | c.650A>T (p.Asn217Ile) n.516A>T | |
20 | g.10658512T>C | CA408239989 | JAG1 | c.650A>G (p.Asn217Ser) n.516A>G | ClinVar gnomAD v4 |
20 | g.10658512T>G | CA408239990 | JAG1 | c.650A>C (p.Asn217Thr) n.516A>C | COSMIC COSMIC |
20 | g.10658513T>A | CA408239991 | JAG1 | c.649A>T (p.Asn217Tyr) n.515A>T | |
20 | g.10658513T>C | CA408239992 | JAG1 | c.649A>G (p.Asn217Asp) n.515A>G | |
20 | g.10658513T>G | CA408239993 | JAG1 | c.649A>C (p.Asn217His) n.515A>C | dbSNP |
20 | g.10658513T= | CA2349888393 | JAG1 | c.649A= (p.Asn217=) n.515A= | |
20 | g.10658514G>A | CA509816394 | JAG1 | c.648C>T (p.Gly216=) n.514C>T | |
20 | g.10658514G>C | CA509816392 | JAG1 | c.648C>G (p.Gly216=) n.514C>G | |
20 | g.10658514G>T | CA509816393 | JAG1 | c.648C>A (p.Gly216=) n.514C>A | |
20 | g.10658514dup | CA645369803 | JAG1 | c.648dup (p.Asn217GlnfsTer14) n.514dup | ClinVar dbSNP |
20 | g.10658515C>A | CA408239994 | JAG1 | c.647G>T (p.Gly216Val) n.513G>T | ClinVar |
20 | g.10658515C>G | CA408239995 | JAG1 | c.647G>C (p.Gly216Ala) n.513G>C | |
20 | g.10658515C>T | CA408239996 | JAG1 | c.647G>A (p.Gly216Asp) n.513G>A | COSMIC COSMIC |
20 | g.10658516del | CA2580097941 | JAG1 | c.647del (p.Gly216AlafsTer?) n.513del | ClinVar |
20 | g.10658516C>A | CA408239997 | JAG1 | c.646G>T (p.Gly216Cys) n.512G>T | |
20 | g.10658516C>G | CA408239998 | JAG1 | c.646G>C (p.Gly216Arg) n.512G>C | |
20 | g.10658516C>T | CA408239999 | JAG1 | c.646G>A (p.Gly216Ser) n.512G>A | |
20 | g.10658517A= | CA2349888394 | JAG1 | c.645T= (p.Asn215=) n.511T= | |
20 | g.10658517A>C | CA408240000 | JAG1 | c.645T>G (p.Asn215Lys) n.511T>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.10658517A>G | CA509816398 | JAG1 | c.645T>C (p.Asn215=) n.511T>C | |
20 | g.10658517A>T | CA408240001 | JAG1 | c.645T>A (p.Asn215Lys) n.511T>A | |
20 | g.10658518T>A | CA408240003 | JAG1 | c.644A>T (p.Asn215Ile) n.510A>T | |
20 | g.10658518T>C | CA408240004 | JAG1 | c.644A>G (p.Asn215Ser) n.510A>G | ClinVar gnomAD v4 |
20 | g.10658518T>G | CA408240002 | JAG1 | c.644A>C (p.Asn215Thr) n.510A>C | |
20 | g.10658519T>A | CA408240006 | JAG1 | c.643A>T (p.Asn215Tyr) n.509A>T | |
20 | g.10658519T>C | CA408240005 | JAG1 | c.643A>G (p.Asn215Asp) n.509A>G | |
20 | g.10658519T>G | CA408240007 | JAG1 | c.643A>C (p.Asn215His) n.509A>C | |
20 | g.10658520C>A | CA408240008 | JAG1 | c.642G>T (p.Gln214His) n.508G>T | |
20 | g.10658520C>G | CA408240009 | JAG1 | c.642G>C (p.Gln214His) n.508G>C | |
20 | g.10658520C>T | CA509816399 | JAG1 | c.642G>A (p.Gln214=) n.508G>A | |
20 | g.10658521T>A | CA408240010 | JAG1 | c.641A>T (p.Gln214Leu) n.507A>T | |
20 | g.10658521T>C | CA408240012 | JAG1 | c.641A>G (p.Gln214Arg) n.507A>G | |
20 | g.10658521T>G | CA408240011 | JAG1 | c.641A>C (p.Gln214Pro) n.507A>C | COSMIC COSMIC |
20 | g.10658522G>A | CA408240013 | JAG1 | c.640C>T (p.Gln214Ter) n.506C>T | |
20 | g.10658522G>C | CA408240014 | JAG1 | c.640C>G (p.Gln214Glu) n.506C>G | |
20 | g.10658522G>T | CA408240015 | JAG1 | c.640C>A (p.Gln214Lys) n.506C>A | |
20 | g.10658523G>A | CA509816401 | JAG1 | c.639C>T (p.Asp213=) n.505C>T | |
20 | g.10658523G>C | CA408240016 | JAG1 | c.639C>G (p.Asp213Glu) n.505C>G | |
20 | g.10658523G>T | CA408240017 | JAG1 | c.639C>A (p.Asp213Glu) n.505C>A | |
20 | g.10658524T>A | CA408240018 | JAG1 | c.638A>T (p.Asp213Val) n.504A>T | |
20 | g.10658524T>C | CA408240019 | JAG1 | c.638A>G (p.Asp213Gly) n.504A>G | dbSNP gnomAD v2 gnomAD v4 |
20 | g.10658524T>G | CA408240020 | JAG1 | c.638A>C (p.Asp213Ala) n.504A>C | |
20 | g.10658524T= | CA2349888395 | JAG1 | c.638A= (p.Asp213=) n.504A= | |
20 | g.10658525C>A | CA408240021 | JAG1 | c.637G>T (p.Asp213Tyr) n.503G>T | |
20 | g.10658525C>G | CA408240022 | JAG1 | c.637G>C (p.Asp213His) n.503G>C | |
20 | g.10658525C>T | CA408240023 | JAG1 | c.637G>A (p.Asp213Asn) n.503G>A | |
20 | g.10658526A= | CA2349888396 | JAG1 | c.636T= (p.Cys212=) n.502T= | |
20 | g.10658526A>C | CA408240025 | JAG1 | c.636T>G (p.Cys212Trp) n.502T>G | |
20 | g.10658526A>G | CA509816402 | JAG1 | c.636T>C (p.Cys212=) n.502T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.10658526A>T | CA408240024 | JAG1 | c.636T>A (p.Cys212Ter) n.502T>A | |
20 | g.10658527C>A | CA408240026 | JAG1 | c.635G>T (p.Cys212Phe) n.501G>T | |
20 | g.10658527C>G | CA408240027 | JAG1 | c.635G>C (p.Cys212Ser) n.501G>C | ClinVar |
20 | g.10658527C>T | CA408240028 | JAG1 | c.635G>A (p.Cys212Tyr) n.501G>A | ClinVar |
20 | g.10658528A= | CA2349888397 | JAG1 | c.634T= (p.Cys212=) n.500T= | |
20 | g.10658528A>C | CA408240029 | JAG1 | c.634T>G (p.Cys212Gly) n.500T>G | |
20 | g.10658528A>G | CA408240030 | JAG1 | c.634T>C (p.Cys212Arg) n.500T>C | ClinVar dbSNP |
20 | g.10658528A>T | CA408240031 | JAG1 | c.634T>A (p.Cys212Ser) n.500T>A | |
20 | g.10658529G>A | CA509816403 | JAG1 | c.633C>T (p.Ala211=) n.499C>T | dbSNP |
20 | g.10658529G>C | CA509816404 | JAG1 | c.633C>G (p.Ala211=) n.499C>G | |
20 | g.10658529G= | CA2349888398 | JAG1 | c.633C= (p.Ala211=) n.499C= | |
20 | g.10658529G>T | CA509816405 | JAG1 | c.633C>A (p.Ala211=) n.499C>A | |
20 | g.10658530G>A | CA408240032 | JAG1 | c.632C>T (p.Ala211Val) n.498C>T | |
20 | g.10658530G>C | CA408240033 | JAG1 | c.632C>G (p.Ala211Gly) n.498C>G | |
20 | g.10658530G>T | CA408240034 | JAG1 | c.632C>A (p.Ala211Asp) n.498C>A | |
20 | g.10658531C>A | CA408240035 | JAG1 | c.631G>T (p.Ala211Ser) n.497G>T | |
20 | g.10658531C= | CA2349888399 | JAG1 | c.631G= (p.Ala211=) n.497G= | |
20 | g.10658531C>G | CA408240036 | JAG1 | c.631G>C (p.Ala211Pro) n.497G>C | |
20 | g.10658531C>T | CA311351504 | JAG1 | c.631G>A (p.Ala211Thr) n.497G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.10658532A>C | CA408240038 | JAG1 | c.630T>G (p.Tyr210Ter) n.496T>G | |
20 | g.10658532A>G | CA509816406 | JAG1 | c.630T>C (p.Tyr210=) n.496T>C | ClinVar |
20 | g.10658532A>T | CA408240037 | JAG1 | c.630T>A (p.Tyr210Ter) n.496T>A | |
20 | g.10658533T>A | CA408240039 | JAG1 | c.629A>T (p.Tyr210Phe) n.495A>T | |
20 | g.10658533T>C | CA408240040 | JAG1 | c.629A>G (p.Tyr210Cys) n.495A>G | |
20 | g.10658533T>G | CA408240041 | JAG1 | c.629A>C (p.Tyr210Ser) n.495A>C | |
20 | g.10658534A>C | CA408240042 | JAG1 | c.628T>G (p.Tyr210Asp) n.494T>G | |
20 | g.10658534A>G | CA408240043 | JAG1 | c.628T>C (p.Tyr210His) n.494T>C | |
20 | g.10658534A>T | CA408240044 | JAG1 | c.628T>A (p.Tyr210Asn) n.494T>A | |
20 | g.10658535G>A | CA509816410 | JAG1 | c.627C>T (p.His209=) n.493C>T | dbSNP |
20 | g.10658535G>C | CA408240046 | JAG1 | c.627C>G (p.His209Gln) n.493C>G | |
20 | g.10658535G= | CA2349888400 | JAG1 | c.627C= (p.His209=) n.493C= | |
20 | g.10658535G>T | CA408240045 | JAG1 | c.627C>A (p.His209Gln) n.493C>A | ClinVar |
20 | g.10658536T>A | CA408240047 | JAG1 | c.626A>T (p.His209Leu) n.492A>T | |
20 | g.10658536T>C | CA321985 | JAG1 | c.626A>G (p.His209Arg) n.492A>G | ClinVar dbSNP gnomAD v4 |
20 | g.10658536T>G | CA408240048 | JAG1 | c.626A>C (p.His209Pro) n.492A>C | |
20 | g.10658536T= | CA2349888401 | JAG1 | c.626A= (p.His209=) n.492A= | |
20 | g.10658537del | CA2695229554 | JAG1 | c.625del (p.His209ThrfsTer?) n.491del | |
20 | g.10658537G>A | CA408240049 | JAG1 | c.625C>T (p.His209Tyr) n.491C>T | |
20 | g.10658537G>C | CA408240050 | JAG1 | c.625C>G (p.His209Asp) n.491C>G | |
20 | g.10658537G>T | CA408240051 | JAG1 | c.625C>A (p.His209Asn) n.491C>A | |
20 | g.10658538T>A | CA509816412 | JAG1 | c.624A>T (p.Gly208=) n.490A>T | |
20 | g.10658538T>C | CA509816413 | JAG1 | c.624A>G (p.Gly208=) n.490A>G | gnomAD v4 |
20 | g.10658538T>G | CA509816414 | JAG1 | c.624A>C (p.Gly208=) n.490A>C | |
20 | g.10658539C>A | CA408240052 | JAG1 | c.623G>T (p.Gly208Val) n.489G>T | |
20 | g.10658539C>G | CA408240054 | JAG1 | c.623G>C (p.Gly208Ala) n.489G>C | |
20 | g.10658539C>T | CA408240053 | JAG1 | c.623G>A (p.Gly208Glu) n.489G>A | |
20 | g.10658540C>A | CA408240055 | JAG1 | c.622G>T (p.Gly208Ter) n.488G>T | ClinVar dbSNP |
20 | g.10658540C>G | CA408240056 | JAG1 | c.622G>C (p.Gly208Arg) n.488G>C | |
20 | g.10658540C>T | CA408240057 | JAG1 | c.622G>A (p.Gly208Arg) n.488G>A | |
20 | g.10658541A>C | CA408240058 | JAG1 | c.621T>G (p.Phe207Leu) n.487T>G | |
20 | g.10658541A>G | CA509816416 | JAG1 | c.621T>C (p.Phe207=) n.487T>C | |
20 | g.10658541A>T | CA408240059 | JAG1 | c.621T>A (p.Phe207Leu) n.487T>A | |
20 | g.10658542A>C | CA408240060 | JAG1 | c.620T>G (p.Phe207Cys) n.486T>G | |
20 | g.10658542A>G | CA408240061 | JAG1 | c.620T>C (p.Phe207Ser) n.486T>C | gnomAD v4 |
20 | g.10658542A>T | CA408240062 | JAG1 | c.620T>A (p.Phe207Tyr) n.486T>A | |
20 | g.10658543A>C | CA408240063 | JAG1 | c.619T>G (p.Phe207Val) n.485T>G | |
20 | g.10658543A>G | CA408240064 | JAG1 | c.619T>C (p.Phe207Leu) n.485T>C | |
20 | g.10658543A>T | CA408240065 | JAG1 | c.619T>A (p.Phe207Ile) n.485T>A | gnomAD v4 |
20 | g.10658544G>A | CA509816419 | JAG1 | c.618C>T (p.Phe206=) n.484C>T | |
20 | g.10658544G>C | CA408240066 | JAG1 | c.618C>G (p.Phe206Leu) n.484C>G | |
20 | g.10658544G>T | CA408240067 | JAG1 | c.618C>A (p.Phe206Leu) n.484C>A | |
20 | g.10658545A= | CA2349888402 | JAG1 | c.617T= (p.Phe206=) n.483T= | |
20 | g.10658545A>C | CA408240068 | JAG1 | c.617T>G (p.Phe206Cys) n.483T>G | |
20 | g.10658545A>G | CA408240069 | JAG1 | c.617T>C (p.Phe206Ser) n.483T>C | |
20 | g.10658545A>T | CA408240070 | JAG1 | c.617T>A (p.Phe206Tyr) n.483T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10658546A= | CA2349888403 | JAG1 | c.616T= (p.Phe206=) n.482T= | |
20 | g.10658546A>C | CA408240071 | JAG1 | c.616T>G (p.Phe206Val) n.482T>G | |
20 | g.10658546A>G | CA408240072 | JAG1 | c.616T>C (p.Phe206Leu) n.482T>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.10658546A>T | CA408240073 | JAG1 | c.616T>A (p.Phe206Ile) n.482T>A | |
20 | g.10658547G>A | CA509816421 | JAG1 | c.615C>T (p.Asp205=) n.481C>T | |
20 | g.10658547G>C | CA408240074 | JAG1 | c.615C>G (p.Asp205Glu) n.481C>G | |
20 | g.10658547G>T | CA408240075 | JAG1 | c.615C>A (p.Asp205Glu) n.481C>A | |
20 | g.10658548T>A | CA408240076 | JAG1 | c.614A>T (p.Asp205Val) n.480A>T | |
20 | g.10658548T>C | CA408240077 | JAG1 | c.614A>G (p.Asp205Gly) n.480A>G | |
20 | g.10658548T>G | CA408240078 | JAG1 | c.614A>C (p.Asp205Ala) n.480A>C | |
20 | g.10658549C>A | CA408240079 | JAG1 | c.613G>T (p.Asp205Tyr) n.479G>T | |
20 | g.10658549C>G | CA408240080 | JAG1 | c.613G>C (p.Asp205His) n.479G>C | |
20 | g.10658549C>T | CA408240081 | JAG1 | c.613G>A (p.Asp205Asn) n.479G>A | |
20 | g.10658550A>C | CA408240083 | JAG1 | c.612T>G (p.Asp204Glu) n.478T>G | |
20 | g.10658550A>G | CA509816423 | JAG1 | c.612T>C (p.Asp204=) n.478T>C | |
20 | g.10658550A>T | CA408240082 | JAG1 | c.612T>A (p.Asp204Glu) n.478T>A | |
20 | g.10658551T>A | CA408240084 | JAG1 | c.611A>T (p.Asp204Val) n.477A>T | |
20 | g.10658551T>C | CA408240085 | JAG1 | c.611A>G (p.Asp204Gly) n.477A>G | ClinVar dbSNP |
20 | g.10658551T>G | CA408240086 | JAG1 | c.611A>C (p.Asp204Ala) n.477A>C | |
20 | g.10658552C>A | CA408240087 | JAG1 | c.610G>T (p.Asp204Tyr) n.476G>T | |
20 | g.10658552C>G | CA408240088 | JAG1 | c.610G>C (p.Asp204His) n.476G>C | |
20 | g.10658552C>T | CA408240089 | JAG1 | c.610G>A (p.Asp204Asn) n.476G>A | |
20 | g.10658553T>A | CA408240090 | JAG1 | c.609A>T (p.Arg203Ser) n.475A>T | |
20 | g.10658553T>C | CA509816424 | JAG1 | c.609A>G (p.Arg203=) n.475A>G | |
20 | g.10658553T>G | CA408240091 | JAG1 | c.609A>C (p.Arg203Ser) n.475A>C | |
20 | g.10658554C>A | CA408240092 | JAG1 | c.608G>T (p.Arg203Ile) n.474G>T | |
20 | g.10658554C>G | CA408240093 | JAG1 | c.608G>C (p.Arg203Thr) n.474G>C | |
20 | g.10658554C>T | CA408240094 | JAG1 | c.608G>A (p.Arg203Lys) n.474G>A | |
20 | g.10658555T>A | CA408240095 | JAG1 | c.607A>T (p.Arg203Ter) n.473A>T | |
20 | g.10658555T>C | CA408240096 | JAG1 | c.607A>G (p.Arg203Gly) n.473A>G | |
20 | g.10658555T>G | CA509816425 | JAG1 | c.607A>C (p.Arg203=) n.473A>C | |
20 | g.10658556G>A | CA509816428 | JAG1 | c.606C>T (p.Pro202=) n.472C>T | ClinVar dbSNP |
20 | g.10658556G>C | CA509816426 | JAG1 | c.606C>G (p.Pro202=) n.472C>G | |
20 | g.10658556G>T | CA509816427 | JAG1 | c.606C>A (p.Pro202=) n.472C>A | ClinVar gnomAD v4 |
20 | g.10658557G>A | CA408240097 | JAG1 | c.605C>T (p.Pro202Leu) n.471C>T | |
20 | g.10658557G>C | CA408240099 | JAG1 | c.605C>G (p.Pro202Arg) n.471C>G | |
20 | g.10658557G>T | CA408240098 | JAG1 | c.605C>A (p.Pro202His) n.471C>A | gnomAD v4 |
20 | g.10658558G>A | CA408240100 | JAG1 | c.604C>T (p.Pro202Ser) n.470C>T | |
20 | g.10658558G>C | CA408240101 | JAG1 | c.604C>G (p.Pro202Ala) n.470C>G | |
20 | g.10658558G>T | CA408240102 | JAG1 | c.604C>A (p.Pro202Thr) n.470C>A | |
20 | g.10658559G>A | CA311351508 | JAG1 | c.603C>T (p.Arg201=) n.469C>T | dbSNP gnomAD v3 gnomAD v4 |
20 | g.10658559G>C | CA509816429 | JAG1 | c.603C>G (p.Arg201=) n.469C>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.10658559G= | CA2349888404 | JAG1 | c.603C= (p.Arg201=) n.469C= | |
20 | g.10658559G>T | CA509816431 | JAG1 | c.603C>A (p.Arg201=) n.469C>A | |
20 | g.10658560C>A | CA408240103 | JAG1 | c.602G>T (p.Arg201Leu) n.468G>T | |
20 | g.10658560C= | CA2349888405 | JAG1 | c.602G= (p.Arg201=) n.468G= | |
20 | g.10658560C>G | CA408240104 | JAG1 | c.602G>C (p.Arg201Pro) n.468G>C | |
20 | g.10658560C>T | CA408240105 | JAG1 | c.602G>A (p.Arg201His) n.468G>A | dbSNP gnomAD v2 gnomAD v4 |
20 | g.10658561G>A | CA245082 | JAG1 | c.601C>T (p.Arg201Cys) n.467C>T | ClinVar dbSNP gnomAD v4 |
20 | g.10658561G>C | CA408240106 | JAG1 | c.601C>G (p.Arg201Gly) n.467C>G | gnomAD v4 |
20 | g.10658561G= | CA2349888406 | JAG1 | c.601C= (p.Arg201=) n.467C= | |
20 | g.10658561G>T | CA408240107 | JAG1 | c.601C>A (p.Arg201Ser) n.467C>A | |
20 | g.10658562G>A | CA509816432 | JAG1 | c.600C>T (p.Cys200=) n.466C>T | |
20 | g.10658562G>C | CA408240108 | JAG1 | c.600C>G (p.Cys200Trp) n.466C>G | |
20 | g.10658562G>T | CA408240109 | JAG1 | c.600C>A (p.Cys200Ter) n.466C>A | COSMIC |
20 | g.10658563C>A | CA408240113 | JAG1 | c.599G>T (p.Cys200Phe) n.465G>T | |
20 | g.10658563C>G | CA408240112 | JAG1 | c.599G>C (p.Cys200Ser) n.465G>C | |
20 | g.10658563C>T | CA408240110 | JAG1 | c.599G>A (p.Cys200Tyr) n.465G>A | |
20 | g.10658564A>C | CA408240114 | JAG1 | c.598T>G (p.Cys200Gly) n.464T>G | |
20 | g.10658564A>G | CA408240115 | JAG1 | c.598T>C (p.Cys200Arg) n.464T>C | |
20 | g.10658564A>T | CA408240117 | JAG1 | c.598T>A (p.Cys200Ser) n.464T>A | |
20 | g.10658565G>A | CA509816433 | JAG1 | c.597C>T (p.Phe199=) n.463C>T | |
20 | g.10658565G>C | CA408240118 | JAG1 | c.597C>G (p.Phe199Leu) n.463C>G | |
20 | g.10658565G>T | CA408240119 | JAG1 | c.597C>A (p.Phe199Leu) n.463C>A | gnomAD v4 |
20 | g.10658566A>C | CA408240121 | JAG1 | c.596T>G (p.Phe199Cys) n.462T>G | |
20 | g.10658566A>G | CA408240123 | JAG1 | c.596T>C (p.Phe199Ser) n.462T>C | |
20 | g.10658566A>T | CA408240125 | JAG1 | c.596T>A (p.Phe199Tyr) n.462T>A | |
20 | g.10658567del | CA2695201377 | JAG1 | c.596del (p.Phe199SerfsTer?) n.462del | ClinVar |
20 | g.10658567A>C | CA408240126 | JAG1 | c.595T>G (p.Phe199Val) n.461T>G | |
20 | g.10658567A>G | CA408240127 | JAG1 | c.595T>C (p.Phe199Leu) n.461T>C | |
20 | g.10658567A>T | CA408240129 | JAG1 | c.595T>A (p.Phe199Ile) n.461T>A | |
20 | g.10658568C>A | CA408240130 | JAG1 | c.594G>T (p.Lys198Asn) n.460G>T | |
20 | g.10658568C>G | CA408240131 | JAG1 | c.594G>C (p.Lys198Asn) n.460G>C | |
20 | g.10658568C>T | CA509816443 | JAG1 | c.594G>A (p.Lys198=) n.460G>A | |
20 | g.10658569T>A | CA408240135 | JAG1 | c.593A>T (p.Lys198Met) n.459A>T | |
20 | g.10658569T>C | CA408240137 | JAG1 | c.593A>G (p.Lys198Arg) n.459A>G | |
20 | g.10658569T>G | CA408240133 | JAG1 | c.593A>C (p.Lys198Thr) n.459A>C | |
20 | g.10658570T>A | CA408240140 | JAG1 | c.592A>T (p.Lys198Ter) n.458A>T | |
20 | g.10658570T>C | CA408240138 | JAG1 | c.592A>G (p.Lys198Glu) n.458A>G | |
20 | g.10658570T>G | CA408240141 | JAG1 | c.592A>C (p.Lys198Gln) n.458A>C | |
20 | g.10658571A>C | CA408240143 | JAG1 | c.591T>G (p.Asn197Lys) n.457T>G | |
20 | g.10658571A>G | CA509816447 | JAG1 | c.591T>C (p.Asn197=) n.457T>C | |
20 | g.10658571A>T | CA408240145 | JAG1 | c.591T>A (p.Asn197Lys) n.457T>A | |
20 | g.10658572T>A | CA408240146 | JAG1 | c.590A>T (p.Asn197Ile) n.456A>T | |
20 | g.10658572T>C | CA408240148 | JAG1 | c.590A>G (p.Asn197Ser) n.456A>G | ClinVar dbSNP gnomAD v4 |
20 | g.10658572T>G | CA408240150 | JAG1 | c.590A>C (p.Asn197Thr) n.456A>C | ClinVar |
20 | g.10658573T>A | CA408240151 | JAG1 | c.589A>T (p.Asn197Tyr) n.455A>T | |
20 | g.10658573T>C | CA408240153 | JAG1 | c.589A>G (p.Asn197Asp) n.455A>G | |
20 | g.10658573T>G | CA408240154 | JAG1 | c.589A>C (p.Asn197His) n.455A>C | |
20 | g.10658573_10658575delinsTGC | CA2349888407 | JAG1 | c.587_589delinsGCA (p.Cys196=) n.453_455delinsGCA | |
20 | g.10658574G>A | CA232489 | JAG1 | c.588C>T (p.Cys196=) n.454C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10658574G>C | CA408240157 | JAG1 | c.588C>G (p.Cys196Trp) n.454C>G | |
20 | g.10658574G= | CA2349888408 | JAG1 | c.588C= (p.Cys196=) n.454C= | |
20 | g.10658574G>T | CA408240159 | JAG1 | c.588C>A (p.Cys196Ter) n.454C>A | ClinVar dbSNP |
20 | g.10658574_10658575delinsA | CA323031 | JAG1 | c.587_588delinsT (p.Cys196LeufsTer?) n.453_454delinsT | ClinVar dbSNP |
20 | g.10658575C>A | CA408240164 | JAG1 | c.587G>T (p.Cys196Phe) n.453G>T | |
20 | g.10658575C>G | CA408240161 | JAG1 | c.587G>C (p.Cys196Ser) n.453G>C | |
20 | g.10658575C>T | CA408240163 | JAG1 | c.587G>A (p.Cys196Tyr) n.453G>A | |
20 | g.10658576A>C | CA408240166 | JAG1 | c.586T>G (p.Cys196Gly) n.452T>G | |
20 | g.10658576A>G | CA408240168 | JAG1 | c.586T>C (p.Cys196Arg) n.452T>C | |
20 | g.10658576A>T | CA408240169 | JAG1 | c.586T>A (p.Cys196Ser) n.452T>A | |
20 | g.10658577G>A | CA509816453 | JAG1 | c.585C>T (p.Gly195=) n.451C>T | |
20 | g.10658577G>C | CA509816454 | JAG1 | c.585C>G (p.Gly195=) n.451C>G | |
20 | g.10658577G>T | CA509816455 | JAG1 | c.585C>A (p.Gly195=) n.451C>A | |
20 | g.10658578C>A | CA408240171 | JAG1 | c.584G>T (p.Gly195Val) n.450G>T | |
20 | g.10658578C>G | CA408240173 | JAG1 | c.584G>C (p.Gly195Ala) n.450G>C | |
20 | g.10658578C>T | CA408240174 | JAG1 | c.584G>A (p.Gly195Asp) n.450G>A | |
20 | g.10658579C>A | CA408240176 | JAG1 | c.583G>T (p.Gly195Cys) n.449G>T | |
20 | g.10658579C>G | CA408240177 | JAG1 | c.583G>C (p.Gly195Arg) n.449G>C | |
20 | g.10658579C>T | CA408240179 | JAG1 | c.583G>A (p.Gly195Ser) n.449G>A | |
20 | g.10658580A>C | CA408240181 | JAG1 | c.582T>G (p.Phe194Leu) n.448T>G | |
20 | g.10658580A>G | CA509816459 | JAG1 | c.582T>C (p.Phe194=) n.448T>C | |
20 | g.10658580A>T | CA408240182 | JAG1 | c.582T>A (p.Phe194Leu) n.448T>A | |
20 | g.10658582dup | CA2695229555 | JAG1 | c.582dup (p.Gly195TrpfsTer4) n.448dup | |
20 | g.10658581A>C | CA408240188 | JAG1 | c.581T>G (p.Phe194Cys) n.447T>G | |
20 | g.10658581A>G | CA408240186 | JAG1 | c.581T>C (p.Phe194Ser) n.447T>C | |
20 | g.10658581A>T | CA408240184 | JAG1 | c.581T>A (p.Phe194Tyr) n.447T>A | |
20 | g.10658582A>C | CA408240189 | JAG1 | c.580T>G (p.Phe194Val) n.446T>G | |
20 | g.10658582A>G | CA408240190 | JAG1 | c.580T>C (p.Phe194Leu) n.446T>C | |
20 | g.10658582A>T | CA408240192 | JAG1 | c.580T>A (p.Phe194Ile) n.446T>A | |
20 | g.10658583G>A | CA509816462 | JAG1 | c.579C>T (p.Gly193=) n.445C>T | |
20 | g.10658583G>C | CA509816464 | JAG1 | c.579C>G (p.Gly193=) n.445C>G | dbSNP gnomAD v4 |
20 | g.10658583G>T | CA509816463 | JAG1 | c.579C>A (p.Gly193=) n.445C>A | |
20 | g.10658583_10658584delinsGC | CA2349888409 | JAG1 | c.578_579delinsGC (p.Gly193=) n.444_445delinsGC | |
20 | g.10658584C>A | CA408240194 | JAG1 | c.578G>T (p.Gly193Val) n.444G>T | |
20 | g.10658584C>G | CA408240196 | JAG1 | c.578G>C (p.Gly193Ala) n.444G>C | |
20 | g.10658584C>T | CA408240197 | JAG1 | c.578G>A (p.Gly193Asp) n.444G>A | |
20 | g.10658585del | CA1139665906 | JAG1 | c.578del (p.Gly193AlafsTer?) n.444del | ClinVar dbSNP |
20 | g.10658585C>A | CA408240202 | JAG1 | c.577G>T (p.Gly193Cys) n.443G>T | |
20 | g.10658585C>G | CA408240198 | JAG1 | c.577G>C (p.Gly193Arg) n.443G>C | |
20 | g.10658585C>T | CA408240200 | JAG1 | c.577G>A (p.Gly193Ser) n.443G>A | |
20 | g.10658586A>C | CA408240204 | JAG1 | c.576T>G (p.Tyr192Ter) n.442T>G | |
20 | g.10658586A>G | CA509816465 | JAG1 | c.576T>C (p.Tyr192=) n.442T>C | |
20 | g.10658586A>T | CA408240205 | JAG1 | c.576T>A (p.Tyr192Ter) n.442T>A | |
20 | g.10658587T>A | CA408240207 | JAG1 | c.575A>T (p.Tyr192Phe) n.441A>T | |
20 | g.10658587T>C | CA408240208 | JAG1 | c.575A>G (p.Tyr192Cys) n.441A>G | ClinVar dbSNP COSMIC COSMIC |
20 | g.10658587T>G | CA408240210 | JAG1 | c.575A>C (p.Tyr192Ser) n.441A>C | |
20 | g.10658587T= | CA2349888410 | JAG1 | c.575A= (p.Tyr192=) n.441A= | |
20 | g.10658588A>C | CA408240212 | JAG1 | c.574T>G (p.Tyr192Asp) n.440T>G | |
20 | g.10658588A>G | CA408240215 | JAG1 | c.574T>C (p.Tyr192His) n.440T>C | |
20 | g.10658588A>T | CA408240213 | JAG1 | c.574T>A (p.Tyr192Asn) n.440T>A | |
20 | g.10658589G>A | CA9765107 | JAG1 | c.573C>T (p.Tyr191=) n.439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.10658589G>C | CA408240216 | JAG1 | c.573C>G (p.Tyr191Ter) n.439C>G | |
20 | g.10658589G= | CA2349888411 | JAG1 | c.573C= (p.Tyr191=) n.439C= | |
20 | g.10658589G>T | CA408240218 | JAG1 | c.573C>A (p.Tyr191Ter) n.439C>A | |
20 | g.10658590T>A | CA408240219 | JAG1 | c.572A>T (p.Tyr191Phe) n.438A>T | |
20 | g.10658590T>C | CA408240221 | JAG1 | c.572A>G (p.Tyr191Cys) n.438A>G | |
20 | g.10658590T>G | CA408240222 | JAG1 | c.572A>C (p.Tyr191Ser) n.438A>C | |
20 | g.10658591A>C | CA408240224 | JAG1 | c.571T>G (p.Tyr191Asp) n.437T>G | |
20 | g.10658591A>G | CA408240225 | JAG1 | c.571T>C (p.Tyr191His) n.437T>C | ClinVar COSMIC COSMIC |
20 | g.10658591A>T | CA408240226 | JAG1 | c.571T>A (p.Tyr191Asn) n.437T>A |