Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.115738265T>A | CA341763871 | CASQ2 | c.215A>T (p.Tyr72Phe) c.491A>T (p.Tyr164Phe) | |
1 | g.115738265T>C | CA1023895 | CASQ2 | c.215A>G (p.Tyr72Cys) c.491A>G (p.Tyr164Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115738265T>G | CA341763872 | CASQ2 | c.215A>C (p.Tyr72Ser) c.491A>C (p.Tyr164Ser) | |
1 | g.115738265T= | CA1140803106 | CASQ2 | c.215A= (p.Tyr72=) c.491A= (p.Tyr164=) | |
1 | g.115738266A= | CA1190729273 | CASQ2 | c.214T= (p.Tyr72=) c.490T= (p.Tyr164=) | |
1 | g.115738266A>C | CA341763873 | CASQ2 | c.214T>G (p.Tyr72Asp) c.490T>G (p.Tyr164Asp) | |
1 | g.115738266A>G | CA341763875 | CASQ2 | c.214T>C (p.Tyr72His) c.490T>C (p.Tyr164His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.115738266A>T | CA341763874 | CASQ2 | c.214T>A (p.Tyr72Asn) c.490T>A (p.Tyr164Asn) | |
1 | g.115738267G>A | CA419895490 | CASQ2 | c.213C>T (p.Asp71=) c.489C>T (p.Asp163=) | |
1 | g.115738267G>C | CA341763876 | CASQ2 | c.213C>G (p.Asp71Glu) c.489C>G (p.Asp163Glu) | |
1 | g.115738267G>T | CA341763877 | CASQ2 | c.213C>A (p.Asp71Glu) c.489C>A (p.Asp163Glu) | |
1 | g.115738268T>A | CA1023896 | CASQ2 | c.212A>T (p.Asp71Val) c.488A>T (p.Asp163Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.115738268T>C | CA341763878 | CASQ2 | c.212A>G (p.Asp71Gly) c.488A>G (p.Asp163Gly) | |
1 | g.115738268T>G | CA341763879 | CASQ2 | c.212A>C (p.Asp71Ala) c.488A>C (p.Asp163Ala) | |
1 | g.115738268T= | CA1190729274 | CASQ2 | c.212A= (p.Asp71=) c.488A= (p.Asp163=) | |
1 | g.115738269C>A | CA341763880 | CASQ2 | c.211G>T (p.Asp71Tyr) c.487G>T (p.Asp163Tyr) | |
1 | g.115738269C>G | CA341763881 | CASQ2 | c.211G>C (p.Asp71His) c.487G>C (p.Asp163His) | COSMIC |
1 | g.115738269C>T | CA341763882 | CASQ2 | c.211G>A (p.Asp71Asn) c.487G>A (p.Asp163Asn) | ClinVar |
1 | g.115738270T>A | CA341763883 | CASQ2 | c.210A>T (p.Glu70Asp) c.486A>T (p.Glu162Asp) | |
1 | g.115738270T>C | CA419895491 | CASQ2 | c.210A>G (p.Glu70=) c.486A>G (p.Glu162=) | dbSNP |
1 | g.115738270T>G | CA341763884 | CASQ2 | c.210A>C (p.Glu70Asp) c.486A>C (p.Glu162Asp) | |
1 | g.115738271T>A | CA341763887 | CASQ2 | c.209A>T (p.Glu70Val) c.485A>T (p.Glu162Val) | |
1 | g.115738271T>C | CA341763886 | CASQ2 | c.209A>G (p.Glu70Gly) c.485A>G (p.Glu162Gly) | |
1 | g.115738271T>G | CA341763885 | CASQ2 | c.209A>C (p.Glu70Ala) c.485A>C (p.Glu162Ala) | |
1 | g.115738272C>A | CA341763889 | CASQ2 | c.208G>T (p.Glu70Ter) c.484G>T (p.Glu162Ter) | |
1 | g.115738272C>G | CA341763888 | CASQ2 | c.208G>C (p.Glu70Gln) c.484G>C (p.Glu162Gln) | |
1 | g.115738272C>T | CA341763890 | CASQ2 | c.208G>A (p.Glu70Lys) c.484G>A (p.Glu162Lys) | gnomAD v4 |
1 | g.115738273A>C | CA341763891 | CASQ2 | c.207T>G (p.Ile69Met) c.483T>G (p.Ile161Met) | |
1 | g.115738273A>G | CA419895492 | CASQ2 | c.207T>C (p.Ile69=) c.483T>C (p.Ile161=) | |
1 | g.115738273A>T | CA419895493 | CASQ2 | c.207T>A (p.Ile69=) c.483T>A (p.Ile161=) | |
1 | g.115738274A= | CA1142412014 | CASQ2 | c.206T= (p.Ile69=) c.482T= (p.Ile161=) | |
1 | g.115738274A>C | CA341763892 | CASQ2 | c.206T>G (p.Ile69Ser) c.482T>G (p.Ile161Ser) | |
1 | g.115738274A>G | CA1023897 | CASQ2 | c.206T>C (p.Ile69Thr) c.482T>C (p.Ile161Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115738274A>T | CA341763893 | CASQ2 | c.206T>A (p.Ile69Asn) c.482T>A (p.Ile161Asn) | |
1 | g.115738275T>A | CA341763894 | CASQ2 | c.205A>T (p.Ile69Phe) c.481A>T (p.Ile161Phe) | |
1 | g.115738275T>C | CA133706 | CASQ2 | c.205A>G (p.Ile69Val) c.481A>G (p.Ile161Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115738275T>G | CA301891 | CASQ2 | c.205A>C (p.Ile69Leu) c.481A>C (p.Ile161Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115738275T= | CA1142109115 | CASQ2 | c.205A= (p.Ile69=) c.481A= (p.Ile161=) | |
1 | g.115738276G>A | CA419895494 | CASQ2 | c.204C>T (p.Arg68=) c.480C>T (p.Arg160=) | |
1 | g.115738276G>C | CA419895495 | CASQ2 | c.204C>G (p.Arg68=) c.480C>G (p.Arg160=) | |
1 | g.115738276G>T | CA419895496 | CASQ2 | c.204C>A (p.Arg68=) c.480C>A (p.Arg160=) | |
1 | g.115738277C>A | CA29603579 | CASQ2 | c.203G>T (p.Arg68Leu) c.479G>T (p.Arg160Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.115738277C= | CA1143852368 | CASQ2 | c.203G= (p.Arg68=) c.479G= (p.Arg160=) | |
1 | g.115738277C>G | CA341763895 | CASQ2 | c.203G>C (p.Arg68Pro) c.479G>C (p.Arg160Pro) | |
1 | g.115738277C>T | CA175368 | CASQ2 | c.203G>A (p.Arg68His) c.479G>A (p.Arg160His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115738277_115738289delinsCGTTCGAAGGCTT | CA1190729275 | CASQ2 | c.191_203delinsAAGCCTTCGAACG (p.Gln64=) c.467_479delinsAAGCCTTCGAACG (p.Gln156=) | |
1 | g.115738278G>A | CA1023898 | CASQ2 | c.202C>T (p.Arg68Cys) c.478C>T (p.Arg160Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115738278G>C | CA341763896 | CASQ2 | c.202C>G (p.Arg68Gly) c.478C>G (p.Arg160Gly) | |
1 | g.115738278G= | CA1190729276 | CASQ2 | c.202C= (p.Arg68=) c.478C= (p.Arg160=) | |
1 | g.115738278G>T | CA341763897 | CASQ2 | c.202C>A (p.Arg68Ser) c.478C>A (p.Arg160Ser) | dbSNP gnomAD v2 gnomAD v4 |