UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.10658427A>G | CA2651917929 | JAG1 | c.694+41T>C (n.694+41T>C) n.560+41T>C | gnomAD v4 |
| 20 | g.10658429G>A | CA2651917930 | JAG1 | c.694+39C>T (n.694+39C>T) n.560+39C>T | gnomAD v4 |
| 20 | g.10658433C>T | CA2651917932 | JAG1 | c.694+35G>A (n.694+35G>A) n.560+35G>A | gnomAD v4 |
| 20 | g.10658434A= | CA2349888358 | JAG1 | c.694+34T= (n.694+34T=) n.560+34T= | |
| 20 | g.10658434A>G | CA634801883 | JAG1 | c.694+34T>C (n.694+34T>C) n.560+34T>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658435G= | CA2349888359 | JAG1 | c.694+33C= (n.694+33C=) n.560+33C= | |
| 20 | g.10658435G>T | CA9765090 | JAG1 | c.694+33C>A (n.694+33C>A) n.560+33C>A | dbSNP ExAC gnomAD v2 |
| 20 | g.10658442_10658455dup | CA509816358 | JAG1 | c.694+19_694+32dup (n.694+19_694+32dup) n.560+19_560+32dup | dbSNP gnomAD v4 |
| 20 | g.10658437C= | CA2349888360 | JAG1 | c.694+31G= (n.694+31G=) n.560+31G= | |
| 20 | g.10658437C>G | CA2651917935 | JAG1 | c.694+31G>C (n.694+31G>C) n.560+31G>C | gnomAD v4 |
| 20 | g.10658438A= | CA2349888361 | JAG1 | c.694+30T= (n.694+30T=) n.560+30T= | |
| 20 | g.10658438A>G | CA9765091 | JAG1 | c.694+30T>C (n.694+30T>C) n.560+30T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658438_10658443dup | CA741106882 | JAG1 | c.694+25_694+30dup (n.694+25_694+30dup) n.560+25_560+30dup | dbSNP |
| 20 | g.10658439C>A | CA9765092 | JAG1 | c.694+29G>T (n.694+29G>T) n.560+29G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658439C= | CA2349888362 | JAG1 | c.694+29G= (n.694+29G=) n.560+29G= | |
| 20 | g.10658439C>T | CA2651917937 | JAG1 | c.694+29G>A (n.694+29G>A) n.560+29G>A | gnomAD v4 |
| 20 | g.10658441C= | CA2349888363 | JAG1 | c.694+27G= (n.694+27G=) n.560+27G= | |
| 20 | g.10658441C>T | CA634801884 | JAG1 | c.694+27G>A (n.694+27G>A) n.560+27G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.10658442G>A | CA9765093 | JAG1 | c.694+26C>T (n.694+26C>T) n.560+26C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658442G= | CA2349888364 | JAG1 | c.694+26C= (n.694+26C=) n.560+26C= | |
| 20 | g.10658444G>A | CA2651917943 | JAG1 | c.694+24C>T (n.694+24C>T) n.560+24C>T | gnomAD v4 |
| 20 | g.10658445C= | CA2349888365 | JAG1 | c.694+23G= (n.694+23G=) n.560+23G= | |
| 20 | g.10658445C>T | CA9765094 | JAG1 | c.694+23G>A (n.694+23G>A) n.560+23G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658446A= | CA2349888366 | JAG1 | c.694+22T= (n.694+22T=) n.560+22T= | |
| 20 | g.10658446A>C | CA741106893 | JAG1 | c.694+22T>G (n.694+22T>G) n.560+22T>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658446A>G | CA9765095 | JAG1 | c.694+22T>C (n.694+22T>C) n.560+22T>C | dbSNP ExAC gnomAD v2 |
| 20 | g.10658447C= | CA2349888367 | JAG1 | c.694+21G= (n.694+21G=) n.560+21G= | |
| 20 | g.10658447C>T | CA2349888368 | JAG1 | c.694+21G>A (n.694+21G>A) n.560+21G>A | dbSNP gnomAD v4 |
| 20 | g.10658448A= | CA2349888369 | JAG1 | c.694+20T= (n.694+20T=) n.560+20T= | |
| 20 | g.10658448A>C | CA2651917948 | JAG1 | c.694+20T>G (n.694+20T>G) n.560+20T>G | gnomAD v4 |
| 20 | g.10658448A>T | CA634801885 | JAG1 | c.694+20T>A (n.694+20T>A) n.560+20T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658449T>C | CA9765096 | JAG1 | c.694+19A>G (n.694+19A>G) n.560+19A>G | dbSNP ExAC gnomAD v4 |
| 20 | g.10658449T>G | CA634801886 | JAG1 | c.694+19A>C (n.694+19A>C) n.560+19A>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658449T= | CA2349888370 | JAG1 | c.694+19A= (n.694+19A=) n.560+19A= | |
| 20 | g.10658449_10658450del | CA2651917952 | JAG1 | c.694+18_694+19del (n.694+18_694+19del) n.560+18_560+19del | gnomAD v4 |
| 20 | g.10658450G>A | CA634801887 | JAG1 | c.694+18C>T (n.694+18C>T) n.560+18C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658450G= | CA2349888372 | JAG1 | c.694+18C= (n.694+18C=) n.560+18C= | |
| 20 | g.10658450G>T | CA2697547320 | JAG1 | c.694+18C>A (n.694+18C>A) n.560+18C>A | ClinVar |
| 20 | g.10658450_10658452delinsGCA | CA2349888371 | JAG1 | c.694+16_694+18delinsTGC (n.694+16_694+18delinsTGC) n.560+16_560+18delinsTGC | |
| 20 | g.10658451C= | CA2349888373 | JAG1 | c.694+17G= (n.694+17G=) n.560+17G= | |
| 20 | g.10658451C>T | CA634801888 | JAG1 | c.694+17G>A (n.694+17G>A) n.560+17G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658463_10658464dup | CA9765098 | JAG1 | c.694+16_694+17dup (n.694+16_694+17dup) n.560+16_560+17dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658461_10658464dup | CA2554541093 | JAG1 | c.694+14_694+17dup (n.694+14_694+17dup) n.560+14_560+17dup | gnomAD v4 |
| 20 | g.10658463_10658464del | CA9765097 | JAG1 | c.694+16_694+17del (n.694+16_694+17del) n.560+16_560+17del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658461_10658464del | CA2577338532 | JAG1 | c.694+14_694+17del (n.694+14_694+17del) n.560+14_560+17del | gnomAD v4 |
| 20 | g.10658451_10658452insCA | CA657222407 | JAG1 | c.694+16_694+17insTG (n.694+16_694+17insTG) n.560+16_560+17insTG | COSMIC |
| 20 | g.10658452A= | CA2349888374 | JAG1 | c.694+16T= (n.694+16T=) n.560+16T= | |
| 20 | g.10658452A>G | CA9765099 | JAG1 | c.694+16T>C (n.694+16T>C) n.560+16T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658452_10658453insAA | CA741106908 | JAG1 | c.694+16_694+17insTT (n.694+16_694+17insTT) n.560+16_560+17insTT | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658453C= | CA2349888375 | JAG1 | c.694+15G= (n.694+15G=) n.560+15G= | |
| 20 | g.10658453C>T | CA9765100 | JAG1 | c.694+15G>A (n.694+15G>A) n.560+15G>A | dbSNP ExAC gnomAD v2 |
| 20 | g.10658454A>G | CA2739277056 | JAG1 | c.694+14T>C (n.694+14T>C) n.560+14T>C | ClinVar |
| 20 | g.10658455C>G | CA2563211412 | JAG1 | c.694+13G>C (n.694+13G>C) n.560+13G>C | |
| 20 | g.10658457C>A | CA2651917973 | JAG1 | c.694+11G>T (n.694+11G>T) n.560+11G>T | gnomAD v4 |
| 20 | g.10658457C>T | CA2815262451 | JAG1 | c.694+11G>A (n.694+11G>A) n.560+11G>A | |
| 20 | g.10658458A>G | CA2651917975 | JAG1 | c.694+10T>C (n.694+10T>C) n.560+10T>C | gnomAD v4 |
| 20 | g.10658459C>T | CA2651917976 | JAG1 | c.694+9G>A (n.694+9G>A) n.560+9G>A | dbSNP gnomAD v4 |
| 20 | g.10658459_10658460insCCA | CA2815262455 | JAG1 | c.694+8_694+9insTGG (n.694+8_694+9insTGG) n.560+8_560+9insTGG | |
| 20 | g.10658461C= | CA2349888376 | JAG1 | c.694+7G= (n.694+7G=) n.560+7G= | |
| 20 | g.10658461C>T | CA1015377375 | JAG1 | c.694+7G>A (n.694+7G>A) n.560+7G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658462A= | CA2349888377 | JAG1 | c.694+6T= (n.694+6T=) n.560+6T= | |
| 20 | g.10658462A>G | CA9765101 | JAG1 | c.694+6T>C (n.694+6T>C) n.560+6T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658463_10658465delinsCAT | CA2349888378 | JAG1 | c.694+3_694+5delinsATG (n.694+3_694+5delinsATG) n.560+3_560+5delinsATG | |
| 20 | g.10658464A= | CA2349888379 | JAG1 | c.694+4T= (n.694+4T=) n.560+4T= | |
| 20 | g.10658464A>G | CA311351493 | JAG1 | c.694+4T>C (n.694+4T>C) n.560+4T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.10658465_10658466del | CA634801889 | JAG1 | c.694+3_694+4del (n.694+3_694+4del) n.560+3_560+4del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658465T>C | CA9765102 | JAG1 | c.694+3A>G (n.694+3A>G) n.560+3A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658465T= | CA2349888380 | JAG1 | c.694+3A= (n.694+3A=) n.560+3A= | |
| 20 | g.10658466A>C | CA408239875 | JAG1 | c.694+2T>G (n.694+2T>G) n.560+2T>G | |
| 20 | g.10658466A>G | CA408239876 | JAG1 | c.694+2T>C (n.694+2T>C) n.560+2T>C | gnomAD v4 |
| 20 | g.10658466A>T | CA408239877 | JAG1 | c.694+2T>A (n.694+2T>A) n.560+2T>A | |
| 20 | g.10658467C>A | CA408239878 | JAG1 | c.694+1G>T (n.694+1G>T) n.560+1G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.10658467C= | CA2349888382 | JAG1 | c.694+1G= (n.694+1G=) n.560+1G= | |
| 20 | g.10658467C>G | CA408239879 | JAG1 | c.694+1G>C (n.694+1G>C) n.560+1G>C | |
| 20 | g.10658467C>T | CA10577620 | JAG1 | c.694+1G>A (n.694+1G>A) n.560+1G>A | ClinVar dbSNP |
| 20 | g.10658467_10658469delinsCCT | CA2349888381 | JAG1 | c.693_694+1delinsAGG n.559_560+1delinsAGG | |
| 20 | g.10658468C>A | CA408239881 | JAG1 | c.694G>T (p.Ala232Ser) n.560G>T | |
| 20 | g.10658468C>G | CA408239882 | JAG1 | c.694G>C (p.Ala232Pro) n.560G>C | |
| 20 | g.10658468C>T | CA408239880 | JAG1 | c.694G>A (p.Ala232Thr) n.560G>A | |
| 20 | g.10658470_10658471del | CA10577622 | JAG1 | c.693_694del (p.Arg231SerfsTer10) n.559_560del | ClinVar dbSNP |
| 20 | g.10658469T>A | CA408239884 | JAG1 | c.693A>T (p.Arg231Ser) n.559A>T | |
| 20 | g.10658469T>C | CA509816361 | JAG1 | c.693A>G (p.Arg231=) n.559A>G | |
| 20 | g.10658469T>G | CA408239883 | JAG1 | c.693A>C (p.Arg231Ser) n.559A>C | |
| 20 | g.10658470C>A | CA408239887 | JAG1 | c.692G>T (p.Arg231Ile) n.558G>T | |
| 20 | g.10658470C>G | CA408239885 | JAG1 | c.692G>C (p.Arg231Thr) n.558G>C | |
| 20 | g.10658470C>T | CA408239886 | JAG1 | c.692G>A (p.Arg231Lys) n.558G>A | |
| 20 | g.10658471T>A | CA408239888 | JAG1 | c.691A>T (p.Arg231Ter) n.557A>T | |
| 20 | g.10658471T>C | CA408239889 | JAG1 | c.691A>G (p.Arg231Gly) n.557A>G | |
| 20 | g.10658471T>G | CA509816362 | JAG1 | c.691A>C (p.Arg231=) n.557A>C | |
| 20 | g.10658472G>A | CA509816363 | JAG1 | c.690C>T (p.Asn230=) n.556C>T | |
| 20 | g.10658472G>C | CA408239890 | JAG1 | c.690C>G (p.Asn230Lys) n.556C>G | |
| 20 | g.10658472G>T | CA408239891 | JAG1 | c.690C>A (p.Asn230Lys) n.556C>A | |
| 20 | g.10658473T>A | CA408239892 | JAG1 | c.689A>T (p.Asn230Ile) n.555A>T | |
| 20 | g.10658473T>C | CA9765103 | JAG1 | c.689A>G (p.Asn230Ser) n.555A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.10658473T>G | CA408239893 | JAG1 | c.689A>C (p.Asn230Thr) n.555A>C | |
| 20 | g.10658473T= | CA2349888383 | JAG1 | c.689A= (p.Asn230=) n.555A= | |
| 20 | g.10658475_10658479dup | CA2695229551 | JAG1 | c.685_689dup (p.Arg231ValfsTer?) n.551_555dup | |
| 20 | g.10658474T>A | CA408239894 | JAG1 | c.688A>T (p.Asn230Tyr) n.554A>T | |
| 20 | g.10658474T>C | CA408239895 | JAG1 | c.688A>G (p.Asn230Asp) n.554A>G | |
| 20 | g.10658474T>G | CA408239896 | JAG1 | c.688A>C (p.Asn230His) n.554A>C | |
| 20 | g.10658475A>C | CA408239897 | JAG1 | c.687T>G (p.Cys229Trp) n.553T>G | |
| 20 | g.10658475A>G | CA509816366 | JAG1 | c.687T>C (p.Cys229=) n.553T>C | |
| 20 | g.10658475A>T | CA408239898 | JAG1 | c.687T>A (p.Cys229Ter) n.553T>A | |
| 20 | g.10658476C>A | CA408239899 | JAG1 | c.686G>T (p.Cys229Phe) n.552G>T | |
| 20 | g.10658476C>G | CA408239900 | JAG1 | c.686G>C (p.Cys229Ser) n.552G>C | |
| 20 | g.10658476C>T | CA408239901 | JAG1 | c.686G>A (p.Cys229Tyr) n.552G>A | |
| 20 | g.10658477A>C | CA408239902 | JAG1 | c.685T>G (p.Cys229Gly) n.551T>G | |
| 20 | g.10658477A>G | CA408239903 | JAG1 | c.685T>C (p.Cys229Arg) n.551T>C | |
| 20 | g.10658477A>T | CA408239904 | JAG1 | c.685T>A (p.Cys229Ser) n.551T>A | |
| 20 | g.10658478T>A | CA408239905 | JAG1 | c.684A>T (p.Glu228Asp) n.550A>T | |
| 20 | g.10658478T>C | CA509816367 | JAG1 | c.684A>G (p.Glu228=) n.550A>G | ClinVar dbSNP |
| 20 | g.10658478T>G | CA408239906 | JAG1 | c.684A>C (p.Glu228Asp) n.550A>C | |
| 20 | g.10658479T>A | CA408239907 | JAG1 | c.683A>T (p.Glu228Val) n.549A>T | |
| 20 | g.10658479T>C | CA408239908 | JAG1 | c.683A>G (p.Glu228Gly) n.549A>G | |
| 20 | g.10658479T>G | CA408239909 | JAG1 | c.683A>C (p.Glu228Ala) n.549A>C | |
| 20 | g.10658480C>A | CA408239911 | JAG1 | c.682G>T (p.Glu228Ter) n.548G>T | ClinVar dbSNP |
| 20 | g.10658480C= | CA2349888384 | JAG1 | c.682G= (p.Glu228=) n.548G= | |
| 20 | g.10658480C>G | CA408239912 | JAG1 | c.682G>C (p.Glu228Gln) n.548G>C | |
| 20 | g.10658480C>T | CA408239910 | JAG1 | c.682G>A (p.Glu228Lys) n.548G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.10658481G>A | CA9765104 | JAG1 | c.681C>T (p.Pro227=) n.547C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.10658481G>C | CA509816369 | JAG1 | c.681C>G (p.Pro227=) n.547C>G | |
| 20 | g.10658481G= | CA2349888385 | JAG1 | c.681C= (p.Pro227=) n.547C= | |
| 20 | g.10658481G>T | CA509816370 | JAG1 | c.681C>A (p.Pro227=) n.547C>A | |
| 20 | g.10658482G>A | CA408239913 | JAG1 | c.680C>T (p.Pro227Leu) n.546C>T | |
| 20 | g.10658482G>C | CA408239914 | JAG1 | c.680C>G (p.Pro227Arg) n.546C>G | |
| 20 | g.10658482G>T | CA408239915 | JAG1 | c.680C>A (p.Pro227His) n.546C>A | |
| 20 | g.10658483G>A | CA408239918 | JAG1 | c.679C>T (p.Pro227Ser) n.545C>T | dbSNP |
| 20 | g.10658483G>C | CA408239917 | JAG1 | c.679C>G (p.Pro227Ala) n.545C>G | |
| 20 | g.10658483G= | CA2349888386 | JAG1 | c.679C= (p.Pro227=) n.545C= | |
| 20 | g.10658483G>T | CA408239916 | JAG1 | c.679C>A (p.Pro227Thr) n.545C>A | |
| 20 | g.10658484G>A | CA509816371 | JAG1 | c.678C>T (p.Gly226=) n.544C>T | |
| 20 | g.10658484G>C | CA509816372 | JAG1 | c.678C>G (p.Gly226=) n.544C>G | |
| 20 | g.10658484G>T | CA509816373 | JAG1 | c.678C>A (p.Gly226=) n.544C>A | |
| 20 | g.10658485C>A | CA408239919 | JAG1 | c.677G>T (p.Gly226Val) n.543G>T | gnomAD v4 |
| 20 | g.10658485C>G | CA408239920 | JAG1 | c.677G>C (p.Gly226Ala) n.543G>C | |
| 20 | g.10658485C>T | CA408239921 | JAG1 | c.677G>A (p.Gly226Asp) n.543G>A | ClinVar gnomAD v4 |
| 20 | g.10658487dup | CA2573156864 | JAG1 | c.677dup (p.Glu228ArgfsTer3) n.543dup | ClinVar dbSNP |
| 20 | g.10658486C>A | CA408239922 | JAG1 | c.676G>T (p.Gly226Cys) n.542G>T | |
| 20 | g.10658486C>G | CA408239923 | JAG1 | c.676G>C (p.Gly226Arg) n.542G>C | |
| 20 | g.10658486C>T | CA408239924 | JAG1 | c.676G>A (p.Gly226Ser) n.542G>A | |
| 20 | g.10658487C>A | CA408239925 | JAG1 | c.675G>T (p.Met225Ile) n.541G>T | |
| 20 | g.10658487C>G | CA408239927 | JAG1 | c.675G>C (p.Met225Ile) n.541G>C | gnomAD v4 |
| 20 | g.10658487C>T | CA408239926 | JAG1 | c.675G>A (p.Met225Ile) n.541G>A | |
| 20 | g.10658488A>C | CA408239928 | JAG1 | c.674T>G (p.Met225Arg) n.540T>G | |
| 20 | g.10658488A>G | CA408239929 | JAG1 | c.674T>C (p.Met225Thr) n.540T>C | |
| 20 | g.10658488A>T | CA408239930 | JAG1 | c.674T>A (p.Met225Lys) n.540T>A | |
| 20 | g.10658489T>A | CA408239931 | JAG1 | c.673A>T (p.Met225Leu) n.539A>T | dbSNP |
| 20 | g.10658489T>C | CA408239932 | JAG1 | c.673A>G (p.Met225Val) n.539A>G | |
| 20 | g.10658489T>G | CA408239933 | JAG1 | c.673A>C (p.Met225Leu) n.539A>C | gnomAD v4 |
| 20 | g.10658490C>A | CA408239934 | JAG1 | c.672G>T (p.Trp224Cys) n.538G>T | |
| 20 | g.10658490C>G | CA408239935 | JAG1 | c.672G>C (p.Trp224Cys) n.538G>C | |
| 20 | g.10658490C>T | CA408239936 | JAG1 | c.672G>A (p.Trp224Ter) n.538G>A | |
| 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 |