Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.169541916T>G | CA421930639 | F5 | c.3174A>C (p.Thr1058=) c.3189A>C (p.Thr1063=) c.2763A>C (p.Thr921=) | |
1 | g.169541916T= | CA1148296537 | F5 | c.3174A= (p.Thr1058=) c.3189A= (p.Thr1063=) c.2763A= (p.Thr921=) | |
1 | g.169541919_169541923del | CA915943655 | F5 | c.3170_3174del (p.Asn1057IlefsTer7) c.3185_3189del (p.Asn1062IlefsTer7) c.2759_2763del (p.Asn920IlefsTer7) | ClinVar dbSNP |
1 | g.169541917G>A | CA1233959 | F5 | c.3173C>T (p.Thr1058Ile) c.3188C>T (p.Thr1063Ile) c.2762C>T (p.Thr921Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169541917G>C | CA343119119 | F5 | c.3173C>G (p.Thr1058Arg) c.3188C>G (p.Thr1063Arg) c.2762C>G (p.Thr921Arg) | |
1 | g.169541917G= | CA1206132528 | F5 | c.3173C= (p.Thr1058=) c.3188C= (p.Thr1063=) c.2762C= (p.Thr921=) | |
1 | g.169541917G>T | CA343119120 | F5 | c.3173C>A (p.Thr1058Lys) c.3188C>A (p.Thr1063Lys) c.2762C>A (p.Thr921Lys) | dbSNP gnomAD v4 |
1 | g.169541918T>A | CA343119121 | F5 | c.3172A>T (p.Thr1058Ser) c.3187A>T (p.Thr1063Ser) c.2761A>T (p.Thr921Ser) | gnomAD v4 |
1 | g.169541918T>C | CA343119122 | F5 | c.3172A>G (p.Thr1058Ala) c.3187A>G (p.Thr1063Ala) c.2761A>G (p.Thr921Ala) | |
1 | g.169541918T>G | CA343119123 | F5 | c.3172A>C (p.Thr1058Pro) c.3187A>C (p.Thr1063Pro) c.2761A>C (p.Thr921Pro) | |
1 | g.169541919G>A | CA421930641 | F5 | c.3171C>T (p.Asn1057=) c.3186C>T (p.Asn1062=) c.2760C>T (p.Asn920=) | |
1 | g.169541919G>C | CA343119124 | F5 | c.3171C>G (p.Asn1057Lys) c.3186C>G (p.Asn1062Lys) c.2760C>G (p.Asn920Lys) | |
1 | g.169541919G>T | CA343119125 | F5 | c.3171C>A (p.Asn1057Lys) c.3186C>A (p.Asn1062Lys) c.2760C>A (p.Asn920Lys) | COSMIC |
1 | g.169541920T>A | CA343119126 | F5 | c.3170A>T (p.Asn1057Ile) c.3185A>T (p.Asn1062Ile) c.2759A>T (p.Asn920Ile) | |
1 | g.169541920T>C | CA343119127 | F5 | c.3170A>G (p.Asn1057Ser) c.3185A>G (p.Asn1062Ser) c.2759A>G (p.Asn920Ser) | |
1 | g.169541920T>G | CA343119128 | F5 | c.3170A>C (p.Asn1057Thr) c.3185A>C (p.Asn1062Thr) c.2759A>C (p.Asn920Thr) | |
1 | g.169541921T>A | CA343119130 | F5 | c.3169A>T (p.Asn1057Tyr) c.3184A>T (p.Asn1062Tyr) c.2758A>T (p.Asn920Tyr) | |
1 | g.169541921T>C | CA343119131 | F5 | c.3169A>G (p.Asn1057Asp) c.3184A>G (p.Asn1062Asp) c.2758A>G (p.Asn920Asp) | |
1 | g.169541921T>G | CA343119129 | F5 | c.3169A>C (p.Asn1057His) c.3184A>C (p.Asn1062His) c.2758A>C (p.Asn920His) | |
1 | g.169541922G>A | CA421930644 | F5 | c.3168C>T (p.Tyr1056=) c.3183C>T (p.Tyr1061=) c.2757C>T (p.Tyr919=) | ClinVar |
1 | g.169541922G>C | CA343119133 | F5 | c.3168C>G (p.Tyr1056Ter) c.3183C>G (p.Tyr1061Ter) c.2757C>G (p.Tyr919Ter) | |
1 | g.169541922G= | CA1206132529 | F5 | c.3168C= (p.Tyr1056=) c.3183C= (p.Tyr1061=) c.2757C= (p.Tyr919=) | |
1 | g.169541922G>T | CA343119132 | F5 | c.3168C>A (p.Tyr1056Ter) c.3183C>A (p.Tyr1061Ter) c.2757C>A (p.Tyr919Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169541923T>A | CA343119134 | F5 | c.3167A>T (p.Tyr1056Phe) c.3182A>T (p.Tyr1061Phe) c.2756A>T (p.Tyr919Phe) | |
1 | g.169541923T>C | CA1233960 | F5 | c.3167A>G (p.Tyr1056Cys) c.3182A>G (p.Tyr1061Cys) c.2756A>G (p.Tyr919Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169541923T>G | CA343119135 | F5 | c.3167A>C (p.Tyr1056Ser) c.3182A>C (p.Tyr1061Ser) c.2756A>C (p.Tyr919Ser) | |
1 | g.169541923T= | CA1206132531 | F5 | c.3167A= (p.Tyr1056=) c.3182A= (p.Tyr1061=) c.2756A= (p.Tyr919=) | |
1 | g.169541924A>C | CA343119136 | F5 | c.3166T>G (p.Tyr1056Asp) c.3181T>G (p.Tyr1061Asp) c.2755T>G (p.Tyr919Asp) | |
1 | g.169541924A>G | CA343119137 | F5 | c.3166T>C (p.Tyr1056His) c.3181T>C (p.Tyr1061His) c.2755T>C (p.Tyr919His) | |
1 | g.169541924A>T | CA343119138 | F5 | c.3166T>A (p.Tyr1056Asn) c.3181T>A (p.Tyr1061Asn) c.2755T>A (p.Tyr919Asn) | |
1 | g.169541925G>A | CA421930650 | F5 | c.3165C>T (p.Ala1055=) c.3180C>T (p.Ala1060=) c.2754C>T (p.Ala918=) | |
1 | g.169541925G>C | CA421930649 | F5 | c.3165C>G (p.Ala1055=) c.3180C>G (p.Ala1060=) c.2754C>G (p.Ala918=) | |
1 | g.169541925G= | CA1206132533 | F5 | c.3165C= (p.Ala1055=) c.3180C= (p.Ala1060=) c.2754C= (p.Ala918=) | |
1 | g.169541925G>T | CA421930648 | F5 | c.3165C>A (p.Ala1055=) c.3180C>A (p.Ala1060=) c.2754C>A (p.Ala918=) | ClinVar dbSNP gnomAD v4 |
1 | g.169541926G>A | CA343119139 | F5 | c.3164C>T (p.Ala1055Val) c.3179C>T (p.Ala1060Val) c.2753C>T (p.Ala918Val) | |
1 | g.169541926G>C | CA343119140 | F5 | c.3164C>G (p.Ala1055Gly) c.3179C>G (p.Ala1060Gly) c.2753C>G (p.Ala918Gly) | |
1 | g.169541926G>T | CA343119141 | F5 | c.3164C>A (p.Ala1055Asp) c.3179C>A (p.Ala1060Asp) c.2753C>A (p.Ala918Asp) | |
1 | g.169541927C>A | CA343119142 | F5 | c.3163G>T (p.Ala1055Ser) c.3178G>T (p.Ala1060Ser) c.2752G>T (p.Ala918Ser) | |
1 | g.169541927C>G | CA343119143 | F5 | c.3163G>C (p.Ala1055Pro) c.3178G>C (p.Ala1060Pro) c.2752G>C (p.Ala918Pro) | |
1 | g.169541927C>T | CA343119144 | F5 | c.3163G>A (p.Ala1055Thr) c.3178G>A (p.Ala1060Thr) c.2752G>A (p.Ala918Thr) | |
1 | g.169541928T>A | CA343119145 | F5 | c.3162A>T (p.Glu1054Asp) c.3177A>T (p.Glu1059Asp) c.2751A>T (p.Glu917Asp) | |
1 | g.169541928T>C | CA421930657 | F5 | c.3162A>G (p.Glu1054=) c.3177A>G (p.Glu1059=) c.2751A>G (p.Glu917=) | |
1 | g.169541928T>G | CA1233961 | F5 | c.3162A>C (p.Glu1054Asp) c.3177A>C (p.Glu1059Asp) c.2751A>C (p.Glu917Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169541928T= | CA1142277151 | F5 | c.3162A= (p.Glu1054=) c.3177A= (p.Glu1059=) c.2751A= (p.Glu917=) | |
1 | g.169541929T>A | CA343119146 | F5 | c.3161A>T (p.Glu1054Val) c.3176A>T (p.Glu1059Val) c.2750A>T (p.Glu917Val) | |
1 | g.169541929T>C | CA343119147 | F5 | c.3161A>G (p.Glu1054Gly) c.3176A>G (p.Glu1059Gly) c.2750A>G (p.Glu917Gly) | |
1 | g.169541929T>G | CA343119148 | F5 | c.3161A>C (p.Glu1054Ala) c.3176A>C (p.Glu1059Ala) c.2750A>C (p.Glu917Ala) |