Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169541905_169541907del | CA2649035426 | F5 | c.3187_3189del (p.Arg1063del) c.3202_3204del (p.Arg1068del) c.2776_2778del (p.Arg926del) | gnomAD v4 |
1 | g.169541903T>A | CA343119074 | F5 | c.3187A>T (p.Arg1063Ter) c.3202A>T (p.Arg1068Ter) c.2776A>T (p.Arg926Ter) | |
1 | g.169541903T>C | CA1233956 | F5 | c.3187A>G (p.Arg1063Gly) c.3202A>G (p.Arg1068Gly) c.2776A>G (p.Arg926Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169541903T>G | CA421930619 | F5 | c.3187A>C (p.Arg1063=) c.3202A>C (p.Arg1068=) c.2776A>C (p.Arg926=) | |
1 | g.169541903T= | CA1206132518 | F5 | c.3187A= (p.Arg1063=) c.3202A= (p.Arg1068=) c.2776A= (p.Arg926=) | |
1 | g.169541903_169541904delinsTT | CA1144229042 | F5 | c.3186_3187delinsAA (p.Arg1062=) c.3201_3202delinsAA (p.Arg1067=) c.2775_2776delinsAA (p.Arg925=) | |
1 | g.169541904dup | CA215969 | F5 | c.3187dup (p.Arg1063LysfsTer3) c.3202dup (p.Arg1068LysfsTer3) c.2776dup (p.Arg926LysfsTer3) | ClinVar dbSNP |
1 | g.169541904T>A | CA343119076 | F5 | c.3186A>T (p.Arg1062Ser) c.3201A>T (p.Arg1067Ser) c.2775A>T (p.Arg925Ser) | |
1 | g.169541904T>C | CA421930620 | F5 | c.3186A>G (p.Arg1062=) c.3201A>G (p.Arg1067=) c.2775A>G (p.Arg925=) | |
1 | g.169541904T>G | CA343119079 | F5 | c.3186A>C (p.Arg1062Ser) c.3201A>C (p.Arg1067Ser) c.2775A>C (p.Arg925Ser) | |
1 | g.169541905C>A | CA343119081 | F5 | c.3185G>T (p.Arg1062Ile) c.3200G>T (p.Arg1067Ile) c.2774G>T (p.Arg925Ile) | |
1 | g.169541905C>G | CA343119083 | F5 | c.3185G>C (p.Arg1062Thr) c.3200G>C (p.Arg1067Thr) c.2774G>C (p.Arg925Thr) | |
1 | g.169541905C>T | CA343119085 | F5 | c.3185G>A (p.Arg1062Lys) c.3200G>A (p.Arg1067Lys) c.2774G>A (p.Arg925Lys) | |
1 | g.169541906T>A | CA343119087 | F5 | c.3184A>T (p.Arg1062Ter) c.3199A>T (p.Arg1067Ter) c.2773A>T (p.Arg925Ter) | |
1 | g.169541906T>C | CA343119088 | F5 | c.3184A>G (p.Arg1062Gly) c.3199A>G (p.Arg1067Gly) c.2773A>G (p.Arg925Gly) | |
1 | g.169541906T>G | CA421930625 | F5 | c.3184A>C (p.Arg1062=) c.3199A>C (p.Arg1067=) c.2773A>C (p.Arg925=) | |
1 | g.169541907T>A | CA343119091 | F5 | c.3183A>T (p.Glu1061Asp) c.3198A>T (p.Glu1066Asp) c.2772A>T (p.Glu924Asp) | |
1 | g.169541907T>C | CA421930626 | F5 | c.3183A>G (p.Glu1061=) c.3198A>G (p.Glu1066=) c.2772A>G (p.Glu924=) | |
1 | g.169541907T>G | CA343119092 | F5 | c.3183A>C (p.Glu1061Asp) c.3198A>C (p.Glu1066Asp) c.2772A>C (p.Glu924Asp) | COSMIC |
1 | g.169541908T>A | CA343119095 | F5 | c.3182A>T (p.Glu1061Val) c.3197A>T (p.Glu1066Val) c.2771A>T (p.Glu924Val) | |
1 | g.169541908T>C | CA343119097 | F5 | c.3182A>G (p.Glu1061Gly) c.3197A>G (p.Glu1066Gly) c.2771A>G (p.Glu924Gly) | |
1 | g.169541908T>G | CA343119094 | F5 | c.3182A>C (p.Glu1061Ala) c.3197A>C (p.Glu1066Ala) c.2771A>C (p.Glu924Ala) | |
1 | g.169541909C>A | CA343119099 | F5 | c.3181G>T (p.Glu1061Ter) c.3196G>T (p.Glu1066Ter) c.2770G>T (p.Glu924Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169541909C= | CA1206132520 | F5 | c.3181G= (p.Glu1061=) c.3196G= (p.Glu1066=) c.2770G= (p.Glu924=) | |
1 | g.169541909C>G | CA343119101 | F5 | c.3181G>C (p.Glu1061Gln) c.3196G>C (p.Glu1066Gln) c.2770G>C (p.Glu924Gln) | COSMIC |
1 | g.169541909C>T | CA343119102 | F5 | c.3181G>A (p.Glu1061Lys) c.3196G>A (p.Glu1066Lys) c.2770G>A (p.Glu924Lys) | |
1 | g.169541910T>A | CA421930629 | F5 | c.3180A>T (p.Ser1060=) c.3195A>T (p.Ser1065=) c.2769A>T (p.Ser923=) | |
1 | g.169541910T>C | CA421930630 | F5 | c.3180A>G (p.Ser1060=) c.3195A>G (p.Ser1065=) c.2769A>G (p.Ser923=) | dbSNP gnomAD v4 |
1 | g.169541910T>G | CA421930631 | F5 | c.3180A>C (p.Ser1060=) c.3195A>C (p.Ser1065=) c.2769A>C (p.Ser923=) | |
1 | g.169541910T= | CA1206132521 | F5 | c.3180A= (p.Ser1060=) c.3195A= (p.Ser1065=) c.2769A= (p.Ser923=) | |
1 | g.169541911G>A | CA343119103 | F5 | c.3179C>T (p.Ser1060Leu) c.3194C>T (p.Ser1065Leu) c.2768C>T (p.Ser923Leu) | |
1 | g.169541911G>C | CA343119105 | F5 | c.3179C>G (p.Ser1060Ter) c.3194C>G (p.Ser1065Ter) c.2768C>G (p.Ser923Ter) | |
1 | g.169541911G>T | CA343119107 | F5 | c.3179C>A (p.Ser1060Ter) c.3194C>A (p.Ser1065Ter) c.2768C>A (p.Ser923Ter) | |
1 | g.169541912A= | CA1206132523 | F5 | c.3178T= (p.Ser1060=) c.3193T= (p.Ser1065=) c.2767T= (p.Ser923=) | |
1 | g.169541912A>C | CA343119110 | F5 | c.3178T>G (p.Ser1060Ala) c.3193T>G (p.Ser1065Ala) c.2767T>G (p.Ser923Ala) | |
1 | g.169541912A>G | CA1233957 | F5 | c.3178T>C (p.Ser1060Pro) c.3193T>C (p.Ser1065Pro) c.2767T>C (p.Ser923Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169541912A>T | CA343119109 | F5 | c.3178T>A (p.Ser1060Thr) c.3193T>A (p.Ser1065Thr) c.2767T>A (p.Ser923Thr) | |
1 | g.169541912_169541913insCCATAATCAGAATTCCTC | CA2517932995 | F5 | c.3177_3178insGAGGAATTCTGATTATGG c.3192_3193insGAGGAATTCTGATTATGG c.2766_2767insGAGGAATTCTGATTATGG | |
1 | g.169541913A>C | CA343119111 | F5 | c.3177T>G (p.Phe1059Leu) c.3192T>G (p.Phe1064Leu) c.2766T>G (p.Phe922Leu) | |
1 | g.169541913A>G | CA421930635 | F5 | c.3177T>C (p.Phe1059=) c.3192T>C (p.Phe1064=) c.2766T>C (p.Phe922=) | |
1 | g.169541913A>T | CA343119112 | F5 | c.3177T>A (p.Phe1059Leu) c.3192T>A (p.Phe1064Leu) c.2766T>A (p.Phe922Leu) | |
1 | g.169541914A>C | CA343119113 | F5 | c.3176T>G (p.Phe1059Cys) c.3191T>G (p.Phe1064Cys) c.2765T>G (p.Phe922Cys) | |
1 | g.169541914A>G | CA343119114 | F5 | c.3176T>C (p.Phe1059Ser) c.3191T>C (p.Phe1064Ser) c.2765T>C (p.Phe922Ser) | |
1 | g.169541914A>T | CA343119115 | F5 | c.3176T>A (p.Phe1059Tyr) c.3191T>A (p.Phe1064Tyr) c.2765T>A (p.Phe922Tyr) | |
1 | g.169541915A>C | CA343119116 | F5 | c.3175T>G (p.Phe1059Val) c.3190T>G (p.Phe1064Val) c.2764T>G (p.Phe922Val) | |
1 | g.169541915A>G | CA343119118 | F5 | c.3175T>C (p.Phe1059Leu) c.3190T>C (p.Phe1064Leu) c.2764T>C (p.Phe922Leu) | |
1 | g.169541915A>T | CA343119117 | F5 | c.3175T>A (p.Phe1059Ile) c.3190T>A (p.Phe1064Ile) c.2764T>A (p.Phe922Ile) | |
1 | g.169541915_169541920delinsATGTGT | CA1206132524 | F5 | c.3170_3175delinsACACAT (p.Asn1057=) c.3185_3190delinsACACAT (p.Asn1062=) c.2759_2764delinsACACAT (p.Asn920=) | |
1 | g.169541916T>A | CA421930638 | F5 | c.3174A>T (p.Thr1058=) c.3189A>T (p.Thr1063=) c.2763A>T (p.Thr921=) | dbSNP |
1 | g.169541916T>C | CA1233958 | F5 | c.3174A>G (p.Thr1058=) c.3189A>G (p.Thr1063=) c.2763A>G (p.Thr921=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |