OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.155904369G>A | CA342802285 | RIT1 | c.*100C>T (n.*100C>T) c.263C>T (p.Thr88Ile) c.*42C>T (n.*42C>T) c.371C>T (p.Thr124Ile) c.374C>T (p.Thr125Ile) c.422C>T (p.Thr141Ile) | |
| 1 | g.155904369G>C | CA342802286 | RIT1 | c.*100C>G (n.*100C>G) c.263C>G (p.Thr88Ser) c.*42C>G (n.*42C>G) c.371C>G (p.Thr124Ser) c.374C>G (p.Thr125Ser) c.422C>G (p.Thr141Ser) | |
| 1 | g.155904369G>T | CA342802287 | RIT1 | c.*100C>A (n.*100C>A) c.263C>A (p.Thr88Asn) c.*42C>A (n.*42C>A) c.371C>A (p.Thr124Asn) c.374C>A (p.Thr125Asn) c.422C>A (p.Thr141Asn) | |
| 1 | g.155904370T>A | CA342802288 | RIT1 | c.*99A>T (n.*99A>T) c.262A>T (p.Thr88Ser) c.*41A>T (n.*41A>T) c.370A>T (p.Thr124Ser) c.373A>T (p.Thr125Ser) c.421A>T (p.Thr141Ser) | |
| 1 | g.155904370T>C | CA342802289 | RIT1 | c.*99A>G (n.*99A>G) c.262A>G (p.Thr88Ala) c.*41A>G (n.*41A>G) c.370A>G (p.Thr124Ala) c.373A>G (p.Thr125Ala) c.421A>G (p.Thr141Ala) | |
| 1 | g.155904370T>G | CA342802290 | RIT1 | c.*99A>C (n.*99A>C) c.262A>C (p.Thr88Pro) c.*41A>C (n.*41A>C) c.370A>C (p.Thr124Pro) c.373A>C (p.Thr125Pro) c.421A>C (p.Thr141Pro) | |
| 1 | g.155904371A= | CA1200375921 | RIT1 | c.*98T= (n.*98T=) c.261T= (p.Arg87=) c.*40T= (n.*40T=) c.369T= (p.Arg123=) c.372T= (p.Arg124=) c.420T= (p.Arg140=) | |
| 1 | g.155904371A>C | CA421058859 | RIT1 | c.*98T>G (n.*98T>G) c.261T>G (p.Arg87=) c.*40T>G (n.*40T>G) c.369T>G (p.Arg123=) c.372T>G (p.Arg124=) c.420T>G (p.Arg140=) | |
| 1 | g.155904371A>G | CA421058861 | RIT1 | c.*98T>C (n.*98T>C) c.261T>C (p.Arg87=) c.*40T>C (n.*40T>C) c.369T>C (p.Arg123=) c.372T>C (p.Arg124=) c.420T>C (p.Arg140=) | dbSNP |
| 1 | g.155904371A>T | CA421058864 | RIT1 | c.*98T>A (n.*98T>A) c.261T>A (p.Arg87=) c.*40T>A (n.*40T>A) c.369T>A (p.Arg123=) c.372T>A (p.Arg124=) c.420T>A (p.Arg140=) | dbSNP gnomAD v4 |
| 1 | g.155904372C>A | CA342802291 | RIT1 | c.*97G>T (n.*97G>T) c.260G>T (p.Arg87Leu) c.*39G>T (n.*39G>T) c.368G>T (p.Arg123Leu) c.371G>T (p.Arg124Leu) c.419G>T (p.Arg140Leu) | |
| 1 | g.155904372C= | CA1200375922 | RIT1 | c.*97G= (n.*97G=) c.260G= (p.Arg87=) c.*39G= (n.*39G=) c.368G= (p.Arg123=) c.371G= (p.Arg124=) c.419G= (p.Arg140=) | |
| 1 | g.155904372C>G | CA342802292 | RIT1 | c.*97G>C (n.*97G>C) c.260G>C (p.Arg87Pro) c.*39G>C (n.*39G>C) c.368G>C (p.Arg123Pro) c.371G>C (p.Arg124Pro) c.419G>C (p.Arg140Pro) | |
| 1 | g.155904372C>T | CA30984321 | RIT1 | c.*97G>A (n.*97G>A) c.260G>A (p.Arg87His) c.*39G>A (n.*39G>A) c.368G>A (p.Arg123His) c.371G>A (p.Arg124His) c.419G>A (p.Arg140His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.155904373G>A | CA342802293 | RIT1 | c.*96C>T (n.*96C>T) c.259C>T (p.Arg87Cys) c.*38C>T (n.*38C>T) c.367C>T (p.Arg123Cys) c.370C>T (p.Arg124Cys) c.418C>T (p.Arg140Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904373G>C | CA342802294 | RIT1 | c.*96C>G (n.*96C>G) c.259C>G (p.Arg87Gly) c.*38C>G (n.*38C>G) c.367C>G (p.Arg123Gly) c.370C>G (p.Arg124Gly) c.418C>G (p.Arg140Gly) | |
| 1 | g.155904373G= | CA1200375923 | RIT1 | c.*96C= (n.*96C=) c.259C= (p.Arg87=) c.*38C= (n.*38C=) c.367C= (p.Arg123=) c.370C= (p.Arg124=) c.418C= (p.Arg140=) | |
| 1 | g.155904373G>T | CA342802295 | RIT1 | c.*96C>A (n.*96C>A) c.259C>A (p.Arg87Ser) c.*38C>A (n.*38C>A) c.367C>A (p.Arg123Ser) c.370C>A (p.Arg124Ser) c.418C>A (p.Arg140Ser) | |
| 1 | g.155904374T>A | CA421058870 | RIT1 | c.*95A>T (n.*95A>T) c.258A>T (p.Arg86=) c.*37A>T (n.*37A>T) c.366A>T (p.Arg122=) c.369A>T (p.Arg123=) c.417A>T (p.Arg139=) | |
| 1 | g.155904374T>C | CA1151802 | RIT1 | c.*95A>G (n.*95A>G) c.258A>G (p.Arg86=) c.*37A>G (n.*37A>G) c.366A>G (p.Arg122=) c.369A>G (p.Arg123=) c.417A>G (p.Arg139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904374T>G | CA421058868 | RIT1 | c.*95A>C (n.*95A>C) c.258A>C (p.Arg86=) c.*37A>C (n.*37A>C) c.366A>C (p.Arg122=) c.369A>C (p.Arg123=) c.417A>C (p.Arg139=) | |
| 1 | g.155904374T= | CA1200375924 | RIT1 | c.*95A= (n.*95A=) c.258A= (p.Arg86=) c.*37A= (n.*37A=) c.366A= (p.Arg122=) c.369A= (p.Arg123=) c.417A= (p.Arg139=) | |
| 1 | g.155904375C>A | CA10602738 | RIT1 | c.*94G>T (n.*94G>T) c.257G>T (p.Arg86Leu) c.*36G>T (n.*36G>T) c.365G>T (p.Arg122Leu) c.368G>T (p.Arg123Leu) c.416G>T (p.Arg139Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.155904375C= | CA1200375925 | RIT1 | c.*94G= (n.*94G=) c.257G= (p.Arg86=) c.*36G= (n.*36G=) c.365G= (p.Arg122=) c.368G= (p.Arg123=) c.416G= (p.Arg139=) | |
| 1 | g.155904375C>G | CA342802296 | RIT1 | c.*94G>C (n.*94G>C) c.257G>C (p.Arg86Pro) c.*36G>C (n.*36G>C) c.365G>C (p.Arg122Pro) c.368G>C (p.Arg123Pro) c.416G>C (p.Arg139Pro) | |
| 1 | g.155904375C>T | CA1151803 | RIT1 | c.*94G>A (n.*94G>A) c.257G>A (p.Arg86Gln) c.*36G>A (n.*36G>A) c.365G>A (p.Arg122Gln) c.368G>A (p.Arg123Gln) c.416G>A (p.Arg139Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155904376G>A | CA342802297 | RIT1 | c.*93C>T (n.*93C>T) c.256C>T (p.Arg86Ter) c.*35C>T (n.*35C>T) c.364C>T (p.Arg122Ter) c.367C>T (p.Arg123Ter) c.415C>T (p.Arg139Ter) | gnomAD v4 COSMIC |
| 1 | g.155904376G>C | CA342802298 | RIT1 | c.*93C>G (n.*93C>G) c.256C>G (p.Arg86Gly) c.*35C>G (n.*35C>G) c.364C>G (p.Arg122Gly) c.367C>G (p.Arg123Gly) c.415C>G (p.Arg139Gly) | |
| 1 | g.155904376G= | CA1200375926 | RIT1 | c.*93C= (n.*93C=) c.256C= (p.Arg86=) c.*35C= (n.*35C=) c.364C= (p.Arg122=) c.367C= (p.Arg123=) c.415C= (p.Arg139=) | |
| 1 | g.155904376G>T | CA421058874 | RIT1 | c.*93C>A (n.*93C>A) c.256C>A (p.Arg86=) c.*35C>A (n.*35C>A) c.364C>A (p.Arg122=) c.367C>A (p.Arg123=) c.415C>A (p.Arg139=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904377G>A | CA421058876 | RIT1 | c.*92C>T (n.*92C>T) c.255C>T (p.Val85=) c.*34C>T (n.*34C>T) c.363C>T (p.Val121=) c.366C>T (p.Val122=) c.414C>T (p.Val138=) | |
| 1 | g.155904377G>C | CA421058877 | RIT1 | c.*92C>G (n.*92C>G) c.255C>G (p.Val85=) c.*34C>G (n.*34C>G) c.363C>G (p.Val121=) c.366C>G (p.Val122=) c.414C>G (p.Val138=) | |
| 1 | g.155904377G>T | CA421058878 | RIT1 | c.*92C>A (n.*92C>A) c.255C>A (p.Val85=) c.*34C>A (n.*34C>A) c.363C>A (p.Val121=) c.366C>A (p.Val122=) c.414C>A (p.Val138=) | |
| 1 | g.155904378A>C | CA342802299 | RIT1 | c.*91T>G (n.*91T>G) c.254T>G (p.Val85Gly) c.*33T>G (n.*33T>G) c.362T>G (p.Val121Gly) c.365T>G (p.Val122Gly) c.413T>G (p.Val138Gly) | |
| 1 | g.155904378A>G | CA342802301 | RIT1 | c.*91T>C (n.*91T>C) c.254T>C (p.Val85Ala) c.*33T>C (n.*33T>C) c.362T>C (p.Val121Ala) c.365T>C (p.Val122Ala) c.413T>C (p.Val138Ala) | |
| 1 | g.155904378A>T | CA342802303 | RIT1 | c.*91T>A (n.*91T>A) c.254T>A (p.Val85Asp) c.*33T>A (n.*33T>A) c.362T>A (p.Val121Asp) c.365T>A (p.Val122Asp) c.413T>A (p.Val138Asp) | |
| 1 | g.155904379C>A | CA342802310 | RIT1 | c.*90G>T (n.*90G>T) c.253G>T (p.Val85Phe) c.*32G>T (n.*32G>T) c.361G>T (p.Val121Phe) c.364G>T (p.Val122Phe) c.412G>T (p.Val138Phe) | |
| 1 | g.155904379C>G | CA342802306 | RIT1 | c.*90G>C (n.*90G>C) c.253G>C (p.Val85Leu) c.*32G>C (n.*32G>C) c.361G>C (p.Val121Leu) c.364G>C (p.Val122Leu) c.412G>C (p.Val138Leu) | |
| 1 | g.155904379C>T | CA342802308 | RIT1 | c.*90G>A (n.*90G>A) c.253G>A (p.Val85Ile) c.*32G>A (n.*32G>A) c.361G>A (p.Val121Ile) c.364G>A (p.Val122Ile) c.412G>A (p.Val138Ile) | gnomAD v4 |
| 1 | g.155904380T>A | CA421058880 | RIT1 | c.*89A>T (n.*89A>T) c.252A>T (p.Arg84=) c.*31A>T (n.*31A>T) c.360A>T (p.Arg120=) c.363A>T (p.Arg121=) c.411A>T (p.Arg137=) | |
| 1 | g.155904380T>C | CA421058882 | RIT1 | c.*89A>G (n.*89A>G) c.252A>G (p.Arg84=) c.*31A>G (n.*31A>G) c.360A>G (p.Arg120=) c.363A>G (p.Arg121=) c.411A>G (p.Arg137=) | |
| 1 | g.155904380T>G | CA421058881 | RIT1 | c.*89A>C (n.*89A>C) c.252A>C (p.Arg84=) c.*31A>C (n.*31A>C) c.360A>C (p.Arg120=) c.363A>C (p.Arg121=) c.411A>C (p.Arg137=) | |
| 1 | g.155904381C>A | CA342802313 | RIT1 | c.*88G>T (n.*88G>T) c.251G>T (p.Arg84Leu) c.*30G>T (n.*30G>T) c.359G>T (p.Arg120Leu) c.362G>T (p.Arg121Leu) c.410G>T (p.Arg137Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904381C= | CA1200375927 | RIT1 | c.*88G= (n.*88G=) c.251G= (p.Arg84=) c.*30G= (n.*30G=) c.359G= (p.Arg120=) c.362G= (p.Arg121=) c.410G= (p.Arg137=) | |
| 1 | g.155904381C>G | CA342802314 | RIT1 | c.*88G>C (n.*88G>C) c.251G>C (p.Arg84Pro) c.*30G>C (n.*30G>C) c.359G>C (p.Arg120Pro) c.362G>C (p.Arg121Pro) c.410G>C (p.Arg137Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904381C>T | CA1151804 | RIT1 | c.*88G>A (n.*88G>A) c.251G>A (p.Arg84Gln) c.*30G>A (n.*30G>A) c.359G>A (p.Arg120Gln) c.362G>A (p.Arg121Gln) c.410G>A (p.Arg137Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904382G>A | CA342802319 | RIT1 | c.*87C>T (n.*87C>T) c.250C>T (p.Arg84Ter) c.*29C>T (n.*29C>T) c.358C>T (p.Arg120Ter) c.361C>T (p.Arg121Ter) c.409C>T (p.Arg137Ter) | COSMIC |
| 1 | g.155904382G>C | CA342802321 | RIT1 | c.*87C>G (n.*87C>G) c.250C>G (p.Arg84Gly) c.*29C>G (n.*29C>G) c.358C>G (p.Arg120Gly) c.361C>G (p.Arg121Gly) c.409C>G (p.Arg137Gly) | ClinVar dbSNP |
| 1 | g.155904382G>T | CA421058884 | RIT1 | c.*87C>A (n.*87C>A) c.250C>A (p.Arg84=) c.*29C>A (n.*29C>A) c.358C>A (p.Arg120=) c.361C>A (p.Arg121=) c.409C>A (p.Arg137=) | |
| 1 | g.155904383A>C | CA342802324 | RIT1 | c.*86T>G (n.*86T>G) c.249T>G (p.Tyr83Ter) c.*28T>G (n.*28T>G) c.357T>G (p.Tyr119Ter) c.360T>G (p.Tyr120Ter) c.408T>G (p.Tyr136Ter) | |
| 1 | g.155904383A>G | CA421058885 | RIT1 | c.*86T>C (n.*86T>C) c.249T>C (p.Tyr83=) c.*28T>C (n.*28T>C) c.357T>C (p.Tyr119=) c.360T>C (p.Tyr120=) c.408T>C (p.Tyr136=) | |
| 1 | g.155904383A>T | CA342802326 | RIT1 | c.*86T>A (n.*86T>A) c.249T>A (p.Tyr83Ter) c.*28T>A (n.*28T>A) c.357T>A (p.Tyr119Ter) c.360T>A (p.Tyr120Ter) c.408T>A (p.Tyr136Ter) | |
| 1 | g.155904384T>A | CA342802329 | RIT1 | c.*85A>T (n.*85A>T) c.248A>T (p.Tyr83Phe) c.*27A>T (n.*27A>T) c.356A>T (p.Tyr119Phe) c.359A>T (p.Tyr120Phe) c.407A>T (p.Tyr136Phe) | |
| 1 | g.155904384T>C | CA342802331 | RIT1 | c.*85A>G (n.*85A>G) c.248A>G (p.Tyr83Cys) c.*27A>G (n.*27A>G) c.356A>G (p.Tyr119Cys) c.359A>G (p.Tyr120Cys) c.407A>G (p.Tyr136Cys) | ClinVar |
| 1 | g.155904384T>G | CA342802333 | RIT1 | c.*85A>C (n.*85A>C) c.248A>C (p.Tyr83Ser) c.*27A>C (n.*27A>C) c.356A>C (p.Tyr119Ser) c.359A>C (p.Tyr120Ser) c.407A>C (p.Tyr136Ser) | |
| 1 | g.155904385A>C | CA342802337 | RIT1 | c.*84T>G (n.*84T>G) c.247T>G (p.Tyr83Asp) c.*26T>G (n.*26T>G) c.355T>G (p.Tyr119Asp) c.358T>G (p.Tyr120Asp) c.406T>G (p.Tyr136Asp) | |
| 1 | g.155904385A>G | CA342802338 | RIT1 | c.*84T>C (n.*84T>C) c.247T>C (p.Tyr83His) c.*26T>C (n.*26T>C) c.355T>C (p.Tyr119His) c.358T>C (p.Tyr120His) c.406T>C (p.Tyr136His) | |
| 1 | g.155904385A>T | CA342802340 | RIT1 | c.*84T>A (n.*84T>A) c.247T>A (p.Tyr83Asn) c.*26T>A (n.*26T>A) c.355T>A (p.Tyr119Asn) c.358T>A (p.Tyr120Asn) c.406T>A (p.Tyr136Asn) | |
| 1 | g.155904386A>C | CA342802343 | RIT1 | c.*83T>G (n.*83T>G) c.246T>G (p.Ile82Met) c.*25T>G (n.*25T>G) c.354T>G (p.Ile118Met) c.357T>G (p.Ile119Met) c.405T>G (p.Ile135Met) | |
| 1 | g.155904386A>G | CA421058887 | RIT1 | c.*83T>C (n.*83T>C) c.246T>C (p.Ile82=) c.*25T>C (n.*25T>C) c.354T>C (p.Ile118=) c.357T>C (p.Ile119=) c.405T>C (p.Ile135=) | |
| 1 | g.155904386A>T | CA421058886 | RIT1 | c.*83T>A (n.*83T>A) c.246T>A (p.Ile82=) c.*25T>A (n.*25T>A) c.354T>A (p.Ile118=) c.357T>A (p.Ile119=) c.405T>A (p.Ile135=) | |
| 1 | g.155904387A>C | CA342802348 | RIT1 | c.*82T>G (n.*82T>G) c.245T>G (p.Ile82Ser) c.*24T>G (n.*24T>G) c.353T>G (p.Ile118Ser) c.356T>G (p.Ile119Ser) c.404T>G (p.Ile135Ser) | |
| 1 | g.155904387A>G | CA342802345 | RIT1 | c.*82T>C (n.*82T>C) c.245T>C (p.Ile82Thr) c.*24T>C (n.*24T>C) c.353T>C (p.Ile118Thr) c.356T>C (p.Ile119Thr) c.404T>C (p.Ile135Thr) | |
| 1 | g.155904387A>T | CA342802346 | RIT1 | c.*82T>A (n.*82T>A) c.245T>A (p.Ile82Asn) c.*24T>A (n.*24T>A) c.353T>A (p.Ile118Asn) c.356T>A (p.Ile119Asn) c.404T>A (p.Ile135Asn) | |
| 1 | g.155904388T>A | CA342802350 | RIT1 | c.*81A>T (n.*81A>T) c.244A>T (p.Ile82Phe) c.*23A>T (n.*23A>T) c.352A>T (p.Ile118Phe) c.355A>T (p.Ile119Phe) c.403A>T (p.Ile135Phe) | |
| 1 | g.155904388T>C | CA1151805 | RIT1 | c.*81A>G (n.*81A>G) c.244A>G (p.Ile82Val) c.*23A>G (n.*23A>G) c.352A>G (p.Ile118Val) c.355A>G (p.Ile119Val) c.403A>G (p.Ile135Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155904388T>G | CA342802353 | RIT1 | c.*81A>C (n.*81A>C) c.244A>C (p.Ile82Leu) c.*23A>C (n.*23A>C) c.352A>C (p.Ile118Leu) c.355A>C (p.Ile119Leu) c.403A>C (p.Ile135Leu) | gnomAD v4 |
| 1 | g.155904388T= | CA1200375928 | RIT1 | c.*81A= (n.*81A=) c.244A= (p.Ile82=) c.*23A= (n.*23A=) c.352A= (p.Ile118=) c.355A= (p.Ile119=) c.403A= (p.Ile135=) | |
| 1 | g.155904389A>C | CA421058889 | RIT1 | c.*80T>G (n.*80T>G) c.243T>G (p.Leu81=) c.*22T>G (n.*22T>G) c.351T>G (p.Leu117=) c.354T>G (p.Leu118=) c.402T>G (p.Leu134=) | |
| 1 | g.155904389A>G | CA421058890 | RIT1 | c.*80T>C (n.*80T>C) c.243T>C (p.Leu81=) c.*22T>C (n.*22T>C) c.351T>C (p.Leu117=) c.354T>C (p.Leu118=) c.402T>C (p.Leu134=) | ClinVar |
| 1 | g.155904389A>T | CA421058891 | RIT1 | c.*80T>A (n.*80T>A) c.243T>A (p.Leu81=) c.*22T>A (n.*22T>A) c.351T>A (p.Leu117=) c.354T>A (p.Leu118=) c.402T>A (p.Leu134=) | |
| 1 | g.155904390A= | CA1200375929 | RIT1 | c.*79T= (n.*79T=) c.242T= (p.Leu81=) c.*21T= (n.*21T=) c.350T= (p.Leu117=) c.353T= (p.Leu118=) c.401T= (p.Leu134=) | |
| 1 | g.155904390A>C | CA1151806 | RIT1 | c.*79T>G (n.*79T>G) c.242T>G (p.Leu81Arg) c.*21T>G (n.*21T>G) c.350T>G (p.Leu117Arg) c.353T>G (p.Leu118Arg) c.401T>G (p.Leu134Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904390A>G | CA342802358 | RIT1 | c.*79T>C (n.*79T>C) c.242T>C (p.Leu81Pro) c.*21T>C (n.*21T>C) c.350T>C (p.Leu117Pro) c.353T>C (p.Leu118Pro) c.401T>C (p.Leu134Pro) | |
| 1 | g.155904390A>T | CA342802360 | RIT1 | c.*79T>A (n.*79T>A) c.242T>A (p.Leu81His) c.*21T>A (n.*21T>A) c.350T>A (p.Leu117His) c.353T>A (p.Leu118His) c.401T>A (p.Leu134His) | |
| 1 | g.155904391G>A | CA342802364 | RIT1 | c.*78C>T (n.*78C>T) c.241C>T (p.Leu81Phe) c.*20C>T (n.*20C>T) c.349C>T (p.Leu117Phe) c.352C>T (p.Leu118Phe) c.400C>T (p.Leu134Phe) | |
| 1 | g.155904391G>C | CA342802366 | RIT1 | c.*78C>G (n.*78C>G) c.241C>G (p.Leu81Val) c.*20C>G (n.*20C>G) c.349C>G (p.Leu117Val) c.352C>G (p.Leu118Val) c.400C>G (p.Leu134Val) | |
| 1 | g.155904391G>T | CA342802368 | RIT1 | c.*78C>A (n.*78C>A) c.241C>A (p.Leu81Ile) c.*20C>A (n.*20C>A) c.349C>A (p.Leu117Ile) c.352C>A (p.Leu118Ile) c.400C>A (p.Leu134Ile) | |
| 1 | g.155904392C>A | CA342802370 | RIT1 | c.*77G>T (n.*77G>T) c.240G>T (p.Gln80His) c.*19G>T (n.*19G>T) c.348G>T (p.Gln116His) c.351G>T (p.Gln117His) c.399G>T (p.Gln133His) | |
| 1 | g.155904392C>G | CA342802372 | RIT1 | c.*77G>C (n.*77G>C) c.240G>C (p.Gln80His) c.*19G>C (n.*19G>C) c.348G>C (p.Gln116His) c.351G>C (p.Gln117His) c.399G>C (p.Gln133His) | |
| 1 | g.155904392C>T | CA421058892 | RIT1 | c.*77G>A (n.*77G>A) c.240G>A (p.Gln80=) c.*19G>A (n.*19G>A) c.348G>A (p.Gln116=) c.351G>A (p.Gln117=) c.399G>A (p.Gln133=) | gnomAD v2 gnomAD v4 |
| 1 | g.155904393T>A | CA342802376 | RIT1 | c.*76A>T (n.*76A>T) c.239A>T (p.Gln80Leu) c.*18A>T (n.*18A>T) c.347A>T (p.Gln116Leu) c.350A>T (p.Gln117Leu) c.398A>T (p.Gln133Leu) | |
| 1 | g.155904393T>C | CA342802375 | RIT1 | c.*76A>G (n.*76A>G) c.239A>G (p.Gln80Arg) c.*18A>G (n.*18A>G) c.347A>G (p.Gln116Arg) c.350A>G (p.Gln117Arg) c.398A>G (p.Gln133Arg) | gnomAD v4 |
| 1 | g.155904393T>G | CA342802373 | RIT1 | c.*76A>C (n.*76A>C) c.239A>C (p.Gln80Pro) c.*18A>C (n.*18A>C) c.347A>C (p.Gln116Pro) c.350A>C (p.Gln117Pro) c.398A>C (p.Gln133Pro) | |
| 1 | g.155904394G>A | CA342802380 | RIT1 | c.*75C>T (n.*75C>T) c.238C>T (p.Gln80Ter) c.*17C>T (n.*17C>T) c.346C>T (p.Gln116Ter) c.349C>T (p.Gln117Ter) c.397C>T (p.Gln133Ter) | gnomAD v4 |
| 1 | g.155904394G>C | CA342802382 | RIT1 | c.*75C>G (n.*75C>G) c.238C>G (p.Gln80Glu) c.*17C>G (n.*17C>G) c.346C>G (p.Gln116Glu) c.349C>G (p.Gln117Glu) c.397C>G (p.Gln133Glu) | dbSNP |
| 1 | g.155904394G= | CA1200375930 | RIT1 | c.*75C= (n.*75C=) c.238C= (p.Gln80=) c.*17C= (n.*17C=) c.346C= (p.Gln116=) c.349C= (p.Gln117=) c.397C= (p.Gln133=) | |
| 1 | g.155904394G>T | CA342802385 | RIT1 | c.*75C>A (n.*75C>A) c.238C>A (p.Gln80Lys) c.*17C>A (n.*17C>A) c.346C>A (p.Gln116Lys) c.349C>A (p.Gln117Lys) c.397C>A (p.Gln133Lys) | |
| 1 | g.155904395T>A | CA342802388 | RIT1 | c.*74A>T (n.*74A>T) c.237A>T (p.Lys79Asn) c.*16A>T (n.*16A>T) c.345A>T (p.Lys115Asn) c.348A>T (p.Lys116Asn) c.396A>T (p.Lys132Asn) | |
| 1 | g.155904395T>C | CA421058898 | RIT1 | c.*74A>G (n.*74A>G) c.237A>G (p.Lys79=) c.*16A>G (n.*16A>G) c.345A>G (p.Lys115=) c.348A>G (p.Lys116=) c.396A>G (p.Lys132=) | |
| 1 | g.155904395T>G | CA342802390 | RIT1 | c.*74A>C (n.*74A>C) c.237A>C (p.Lys79Asn) c.*16A>C (n.*16A>C) c.345A>C (p.Lys115Asn) c.348A>C (p.Lys116Asn) c.396A>C (p.Lys132Asn) | |
| 1 | g.155904396T>A | CA342802391 | RIT1 | c.*73A>T (n.*73A>T) c.236A>T (p.Lys79Ile) c.*15A>T (n.*15A>T) c.344A>T (p.Lys115Ile) c.347A>T (p.Lys116Ile) c.395A>T (p.Lys132Ile) | |
| 1 | g.155904396T>C | CA342802394 | RIT1 | c.*73A>G (n.*73A>G) c.236A>G (p.Lys79Arg) c.*15A>G (n.*15A>G) c.344A>G (p.Lys115Arg) c.347A>G (p.Lys116Arg) c.395A>G (p.Lys132Arg) | |
| 1 | g.155904396T>G | CA342802397 | RIT1 | c.*73A>C (n.*73A>C) c.236A>C (p.Lys79Thr) c.*15A>C (n.*15A>C) c.344A>C (p.Lys115Thr) c.347A>C (p.Lys116Thr) c.395A>C (p.Lys132Thr) | |
| 1 | g.155904397T>A | CA342802399 | RIT1 | c.*72A>T (n.*72A>T) c.235A>T (p.Lys79Ter) c.*14A>T (n.*14A>T) c.343A>T (p.Lys115Ter) c.346A>T (p.Lys116Ter) c.394A>T (p.Lys132Ter) | |
| 1 | g.155904397T>C | CA342802402 | RIT1 | c.*72A>G (n.*72A>G) c.235A>G (p.Lys79Glu) c.*14A>G (n.*14A>G) c.343A>G (p.Lys115Glu) c.346A>G (p.Lys116Glu) c.394A>G (p.Lys132Glu) | |
| 1 | g.155904397T>G | CA342802404 | RIT1 | c.*72A>C (n.*72A>C) c.235A>C (p.Lys79Gln) c.*14A>C (n.*14A>C) c.343A>C (p.Lys115Gln) c.346A>C (p.Lys116Gln) c.394A>C (p.Lys132Gln) | |
| 1 | g.155904398A>C | CA342802407 | RIT1 | c.*71T>G (n.*71T>G) c.234T>G (p.Phe78Leu) c.*13T>G (n.*13T>G) c.342T>G (p.Phe114Leu) c.345T>G (p.Phe115Leu) c.393T>G (p.Phe131Leu) | |
| 1 | g.155904398A>G | CA421058911 | RIT1 | c.*71T>C (n.*71T>C) c.234T>C (p.Phe78=) c.*13T>C (n.*13T>C) c.342T>C (p.Phe114=) c.345T>C (p.Phe115=) c.393T>C (p.Phe131=) | |
| 1 | g.155904398A>T | CA342802408 | RIT1 | c.*71T>A (n.*71T>A) c.234T>A (p.Phe78Leu) c.*13T>A (n.*13T>A) c.342T>A (p.Phe114Leu) c.345T>A (p.Phe115Leu) c.393T>A (p.Phe131Leu) | |
| 1 | g.155904399A= | CA1148263457 | RIT1 | c.*70T= (n.*70T=) c.233T= (p.Phe78=) c.*12T= (n.*12T=) c.341T= (p.Phe114=) c.344T= (p.Phe115=) c.392T= (p.Phe131=) | |
| 1 | g.155904399A>C | CA342802414 | RIT1 | c.*70T>G (n.*70T>G) c.233T>G (p.Phe78Cys) c.*12T>G (n.*12T>G) c.341T>G (p.Phe114Cys) c.344T>G (p.Phe115Cys) c.392T>G (p.Phe131Cys) | |
| 1 | g.155904399A>G | CA342802416 | RIT1 | c.*70T>C (n.*70T>C) c.233T>C (p.Phe78Ser) c.*12T>C (n.*12T>C) c.341T>C (p.Phe114Ser) c.344T>C (p.Phe115Ser) c.392T>C (p.Phe131Ser) | |
| 1 | g.155904399A>T | CA1151807 | RIT1 | c.*70T>A (n.*70T>A) c.233T>A (p.Phe78Tyr) c.*12T>A (n.*12T>A) c.341T>A (p.Phe114Tyr) c.344T>A (p.Phe115Tyr) c.392T>A (p.Phe131Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904400A= | CA1200375931 | RIT1 | c.*69T= (n.*69T=) c.232T= (p.Phe78=) c.*11T= (n.*11T=) c.340T= (p.Phe114=) c.343T= (p.Phe115=) c.391T= (p.Phe131=) | |
| 1 | g.155904400A>C | CA342802419 | RIT1 | c.*69T>G (n.*69T>G) c.232T>G (p.Phe78Val) c.*11T>G (n.*11T>G) c.340T>G (p.Phe114Val) c.343T>G (p.Phe115Val) c.391T>G (p.Phe131Val) | |
| 1 | g.155904400A>G | CA342802421 | RIT1 | c.*69T>C (n.*69T>C) c.232T>C (p.Phe78Leu) c.*11T>C (n.*11T>C) c.340T>C (p.Phe114Leu) c.343T>C (p.Phe115Leu) c.391T>C (p.Phe131Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904400A>T | CA342802424 | RIT1 | c.*69T>A (n.*69T>A) c.232T>A (p.Phe78Ile) c.*11T>A (n.*11T>A) c.340T>A (p.Phe114Ile) c.343T>A (p.Phe115Ile) c.391T>A (p.Phe131Ile) | |
| 1 | g.155904401C>A | CA342802426 | RIT1 | c.*68G>T (n.*68G>T) c.231G>T (p.Glu77Asp) c.*10G>T (n.*10G>T) c.339G>T (p.Glu113Asp) c.342G>T (p.Glu114Asp) c.390G>T (p.Glu130Asp) | |
| 1 | g.155904401C>G | CA342802428 | RIT1 | c.*68G>C (n.*68G>C) c.231G>C (p.Glu77Asp) c.*10G>C (n.*10G>C) c.339G>C (p.Glu113Asp) c.342G>C (p.Glu114Asp) c.390G>C (p.Glu130Asp) | |
| 1 | g.155904401C>T | CA421058927 | RIT1 | c.*68G>A (n.*68G>A) c.231G>A (p.Glu77=) c.*10G>A (n.*10G>A) c.339G>A (p.Glu113=) c.342G>A (p.Glu114=) c.390G>A (p.Glu130=) | |
| 1 | g.155904402T>A | CA342802431 | RIT1 | c.*67A>T (n.*67A>T) c.230A>T (p.Glu77Val) c.*9A>T (n.*9A>T) c.338A>T (p.Glu113Val) c.341A>T (p.Glu114Val) c.389A>T (p.Glu130Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155904402T>C | CA342802433 | RIT1 | c.*67A>G (n.*67A>G) c.230A>G (p.Glu77Gly) c.*9A>G (n.*9A>G) c.338A>G (p.Glu113Gly) c.341A>G (p.Glu114Gly) c.389A>G (p.Glu130Gly) | |
| 1 | g.155904402T>G | CA342802435 | RIT1 | c.*67A>C (n.*67A>C) c.230A>C (p.Glu77Ala) c.*9A>C (n.*9A>C) c.338A>C (p.Glu113Ala) c.341A>C (p.Glu114Ala) c.389A>C (p.Glu130Ala) | dbSNP |
| 1 | g.155904402T= | CA1200375932 | RIT1 | c.*67A= (n.*67A=) c.230A= (p.Glu77=) c.*9A= (n.*9A=) c.338A= (p.Glu113=) c.341A= (p.Glu114=) c.389A= (p.Glu130=) | |
| 1 | g.155904403C>A | CA342802438 | RIT1 | c.*66G>T (n.*66G>T) c.229G>T (p.Glu77Ter) c.*8G>T (n.*8G>T) c.337G>T (p.Glu113Ter) c.340G>T (p.Glu114Ter) c.388G>T (p.Glu130Ter) | |
| 1 | g.155904403C>G | CA342802441 | RIT1 | c.*66G>C (n.*66G>C) c.229G>C (p.Glu77Gln) c.*8G>C (n.*8G>C) c.337G>C (p.Glu113Gln) c.340G>C (p.Glu114Gln) c.388G>C (p.Glu130Gln) | |
| 1 | g.155904403C>T | CA342802443 | RIT1 | c.*66G>A (n.*66G>A) c.229G>A (p.Glu77Lys) c.*8G>A (n.*8G>A) c.337G>A (p.Glu113Lys) c.340G>A (p.Glu114Lys) c.388G>A (p.Glu130Lys) | |
| 1 | g.155904404A= | CA1139849351 | RIT1 | c.*65T= (n.*65T=) c.228T= (p.Arg76=) c.*7T= (n.*7T=) c.336T= (p.Arg112=) c.339T= (p.Arg113=) c.387T= (p.Arg129=) | |
| 1 | g.155904404A>C | CA421058939 | RIT1 | c.*65T>G (n.*65T>G) c.228T>G (p.Arg76=) c.*7T>G (n.*7T>G) c.336T>G (p.Arg112=) c.339T>G (p.Arg113=) c.387T>G (p.Arg129=) | |
| 1 | g.155904404A>G | CA421058941 | RIT1 | c.*65T>C (n.*65T>C) c.228T>C (p.Arg76=) c.*7T>C (n.*7T>C) c.336T>C (p.Arg112=) c.339T>C (p.Arg113=) c.387T>C (p.Arg129=) | |
| 1 | g.155904404A>T | CA30984370 | RIT1 | c.*65T>A (n.*65T>A) c.228T>A (p.Arg76=) c.*7T>A (n.*7T>A) c.336T>A (p.Arg112=) c.339T>A (p.Arg113=) c.387T>A (p.Arg129=) | dbSNP |
| 1 | g.155904405C>A | CA342802453 | RIT1 | c.*64G>T (n.*64G>T) c.227G>T (p.Arg76Leu) c.*6G>T (n.*6G>T) c.335G>T (p.Arg112Leu) c.338G>T (p.Arg113Leu) c.386G>T (p.Arg129Leu) | gnomAD v4 |
| 1 | g.155904405C= | CA1200375933 | RIT1 | c.*64G= (n.*64G=) c.227G= (p.Arg76=) c.*6G= (n.*6G=) c.335G= (p.Arg112=) c.338G= (p.Arg113=) c.386G= (p.Arg129=) | |
| 1 | g.155904405C>G | CA342802449 | RIT1 | c.*64G>C (n.*64G>C) c.227G>C (p.Arg76Pro) c.*6G>C (n.*6G>C) c.335G>C (p.Arg112Pro) c.338G>C (p.Arg113Pro) c.386G>C (p.Arg129Pro) | |
| 1 | g.155904405C>T | CA342802451 | RIT1 | c.*64G>A (n.*64G>A) c.227G>A (p.Arg76His) c.*6G>A (n.*6G>A) c.335G>A (p.Arg112His) c.338G>A (p.Arg113His) c.386G>A (p.Arg129His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904406G>A | CA1151808 | RIT1 | c.*63C>T (n.*63C>T) c.226C>T (p.Arg76Cys) c.*5C>T (n.*5C>T) c.334C>T (p.Arg112Cys) c.337C>T (p.Arg113Cys) c.385C>T (p.Arg129Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155904406G>C | CA342802459 | RIT1 | c.*63C>G (n.*63C>G) c.226C>G (p.Arg76Gly) c.*5C>G (n.*5C>G) c.334C>G (p.Arg112Gly) c.337C>G (p.Arg113Gly) c.385C>G (p.Arg129Gly) | |
| 1 | g.155904406G= | CA1144079842 | RIT1 | c.*63C= (n.*63C=) c.226C= (p.Arg76=) c.*5C= (n.*5C=) c.334C= (p.Arg112=) c.337C= (p.Arg113=) c.385C= (p.Arg129=) | |
| 1 | g.155904406G>T | CA342802461 | RIT1 | c.*63C>A (n.*63C>A) c.226C>A (p.Arg76Ser) c.*5C>A (n.*5C>A) c.334C>A (p.Arg112Ser) c.337C>A (p.Arg113Ser) c.385C>A (p.Arg129Ser) | |
| 1 | g.155904407A>C | CA421058953 | RIT1 | c.*62T>G (n.*62T>G) c.225T>G (p.Val75=) c.*4T>G (n.*4T>G) c.333T>G (p.Val111=) c.336T>G (p.Val112=) c.384T>G (p.Val128=) | |
| 1 | g.155904407A>G | CA421058954 | RIT1 | c.*62T>C (n.*62T>C) c.225T>C (p.Val75=) c.*4T>C (n.*4T>C) c.333T>C (p.Val111=) c.336T>C (p.Val112=) c.384T>C (p.Val128=) | |
| 1 | g.155904407A>T | CA421058957 | RIT1 | c.*62T>A (n.*62T>A) c.225T>A (p.Val75=) c.*4T>A (n.*4T>A) c.333T>A (p.Val111=) c.336T>A (p.Val112=) c.384T>A (p.Val128=) | |
| 1 | g.155904408A>C | CA342802464 | RIT1 | c.*61T>G (n.*61T>G) c.224T>G (p.Val75Gly) c.*3T>G (n.*3T>G) c.332T>G (p.Val111Gly) c.335T>G (p.Val112Gly) c.383T>G (p.Val128Gly) | |
| 1 | g.155904408A>G | CA342802466 | RIT1 | c.*61T>C (n.*61T>C) c.224T>C (p.Val75Ala) c.*3T>C (n.*3T>C) c.332T>C (p.Val111Ala) c.335T>C (p.Val112Ala) c.383T>C (p.Val128Ala) | gnomAD v4 |
| 1 | g.155904408A>T | CA342802468 | RIT1 | c.*61T>A (n.*61T>A) c.224T>A (p.Val75Asp) c.*3T>A (n.*3T>A) c.332T>A (p.Val111Asp) c.335T>A (p.Val112Asp) c.383T>A (p.Val128Asp) | |
| 1 | g.155904409C>A | CA342802471 | RIT1 | c.*60G>T (n.*60G>T) c.223G>T (p.Val75Phe) c.*2G>T (n.*2G>T) c.331G>T (p.Val111Phe) c.334G>T (p.Val112Phe) c.382G>T (p.Val128Phe) | |
| 1 | g.155904409C>G | CA342802473 | RIT1 | c.*60G>C (n.*60G>C) c.223G>C (p.Val75Leu) c.*2G>C (n.*2G>C) c.331G>C (p.Val111Leu) c.334G>C (p.Val112Leu) c.382G>C (p.Val128Leu) | |
| 1 | g.155904409C>T | CA342802475 | RIT1 | c.*60G>A (n.*60G>A) c.223G>A (p.Val75Ile) c.*2G>A (n.*2G>A) c.331G>A (p.Val111Ile) c.334G>A (p.Val112Ile) c.382G>A (p.Val128Ile) | |
| 1 | g.155904410T>A | CA342802478 | RIT1 | c.*59A>T (n.*59A>T) c.222A>T (p.Glu74Asp) c.*1A>T (n.*1A>T) c.330A>T (p.Glu110Asp) c.333A>T (p.Glu111Asp) c.381A>T (p.Glu127Asp) | |
| 1 | g.155904410T>C | CA421058972 | RIT1 | c.*59A>G (n.*59A>G) c.222A>G (p.Glu74=) c.*1A>G (n.*1A>G) c.330A>G (p.Glu110=) c.333A>G (p.Glu111=) c.381A>G (p.Glu127=) | gnomAD v4 |
| 1 | g.155904410T>G | CA342802480 | RIT1 | c.*59A>C (n.*59A>C) c.222A>C (p.Glu74Asp) c.*1A>C (n.*1A>C) c.330A>C (p.Glu110Asp) c.333A>C (p.Glu111Asp) c.381A>C (p.Glu127Asp) | gnomAD v4 |
| 1 | g.155904411T>A | CA342802485 | RIT1 | c.*58A>T (n.*58A>T) c.221A>T (p.Glu74Val) c.306A>T (p.Ter102Cys) c.329A>T (p.Glu110Val) c.332A>T (p.Glu111Val) c.380A>T (p.Glu127Val) | |
| 1 | g.155904411T>C | CA342802487 | RIT1 | c.*58A>G (n.*58A>G) c.221A>G (p.Glu74Gly) c.306A>G (p.Ter102Trp) c.329A>G (p.Glu110Gly) c.332A>G (p.Glu111Gly) c.380A>G (p.Glu127Gly) | |
| 1 | g.155904411T>G | CA342802483 | RIT1 | c.*58A>C (n.*58A>C) c.221A>C (p.Glu74Ala) c.306A>C (p.Ter102Cys) c.329A>C (p.Glu110Ala) c.332A>C (p.Glu111Ala) c.380A>C (p.Glu127Ala) | |
| 1 | g.155904412C>A | CA342802495 | RIT1 | c.*57G>T (n.*57G>T) c.220G>T (p.Glu74Ter) c.305G>T (p.Ter102Leu) c.328G>T (p.Glu110Ter) c.331G>T (p.Glu111Ter) c.379G>T (p.Glu127Ter) | |
| 1 | g.155904412C>G | CA342802491 | RIT1 | c.*57G>C (n.*57G>C) c.220G>C (p.Glu74Gln) c.305G>C (p.Ter102Ser) c.328G>C (p.Glu110Gln) c.331G>C (p.Glu111Gln) c.379G>C (p.Glu127Gln) | |
| 1 | g.155904412C>T | CA342802493 | RIT1 | c.*57G>A (n.*57G>A) c.220G>A (p.Glu74Lys) c.305G>A (p.Ter102=) c.328G>A (p.Glu110Lys) c.331G>A (p.Glu111Lys) c.379G>A (p.Glu127Lys) | gnomAD v4 |
| 1 | g.155904413A= | CA1200375934 | RIT1 | c.*56T= (n.*56T=) c.219T= (p.His73=) c.304T= (p.Ter102=) c.327T= (p.His109=) c.330T= (p.His110=) c.378T= (p.His126=) | |
| 1 | g.155904413A>C | CA342802498 | RIT1 | c.*56T>G (n.*56T>G) c.219T>G (p.His73Gln) c.304T>G (p.Ter102Gly) c.327T>G (p.His109Gln) c.330T>G (p.His110Gln) c.378T>G (p.His126Gln) | |
| 1 | g.155904413A>G | CA421058986 | RIT1 | c.*56T>C (n.*56T>C) c.219T>C (p.His73=) c.304T>C (p.Ter102Arg) c.327T>C (p.His109=) c.330T>C (p.His110=) c.378T>C (p.His126=) | dbSNP |
| 1 | g.155904413A>T | CA342802500 | RIT1 | c.*56T>A (n.*56T>A) c.219T>A (p.His73Gln) c.304T>A (p.Ter102Arg) c.327T>A (p.His109Gln) c.330T>A (p.His110Gln) c.378T>A (p.His126Gln) | |
| 1 | g.155904414T>A | CA342802504 | RIT1 | c.*55A>T (n.*55A>T) c.218A>T (p.His73Leu) c.303A>T (p.Pro101=) c.326A>T (p.His109Leu) c.329A>T (p.His110Leu) c.377A>T (p.His126Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155904414T>C | CA342802506 | RIT1 | c.*55A>G (n.*55A>G) c.218A>G (p.His73Arg) c.303A>G (p.Pro101=) c.326A>G (p.His109Arg) c.329A>G (p.His110Arg) c.377A>G (p.His126Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904414T>G | CA342802508 | RIT1 | c.*55A>C (n.*55A>C) c.218A>C (p.His73Pro) c.303A>C (p.Pro101=) c.326A>C (p.His109Pro) c.329A>C (p.His110Pro) c.377A>C (p.His126Pro) | |
| 1 | g.155904414T= | CA1200375935 | RIT1 | c.*55A= (n.*55A=) c.218A= (p.His73=) c.303A= (p.Pro101=) c.326A= (p.His109=) c.329A= (p.His110=) c.377A= (p.His126=) | |
| 1 | g.155904415G>A | CA342802517 | RIT1 | c.*54C>T (n.*54C>T) c.217C>T (p.His73Tyr) c.302C>T (p.Pro101Leu) c.325C>T (p.His109Tyr) c.328C>T (p.His110Tyr) c.376C>T (p.His126Tyr) | |
| 1 | g.155904415G>C | CA342802512 | RIT1 | c.*54C>G (n.*54C>G) c.217C>G (p.His73Asp) c.302C>G (p.Pro101Arg) c.325C>G (p.His109Asp) c.328C>G (p.His110Asp) c.376C>G (p.His126Asp) | |
| 1 | g.155904415G>T | CA342802515 | RIT1 | c.*54C>A (n.*54C>A) c.217C>A (p.His73Asn) c.302C>A (p.Pro101Gln) c.325C>A (p.His109Asn) c.328C>A (p.His110Asn) c.376C>A (p.His126Asn) | gnomAD v4 |
| 1 | g.155904416G>A | CA421059002 | RIT1 | c.*53C>T (n.*53C>T) c.216C>T (p.Phe72=) c.301C>T (p.Pro101Ser) c.324C>T (p.Phe108=) c.327C>T (p.Phe109=) c.375C>T (p.Phe125=) | |
| 1 | g.155904416G>C | CA342802519 | RIT1 | c.*53C>G (n.*53C>G) c.216C>G (p.Phe72Leu) c.301C>G (p.Pro101Ala) c.324C>G (p.Phe108Leu) c.327C>G (p.Phe109Leu) c.375C>G (p.Phe125Leu) | |
| 1 | g.155904416G>T | CA342802520 | RIT1 | c.*53C>A (n.*53C>A) c.216C>A (p.Phe72Leu) c.301C>A (p.Pro101Thr) c.324C>A (p.Phe108Leu) c.327C>A (p.Phe109Leu) c.375C>A (p.Phe125Leu) | COSMIC |
| 1 | g.155904417A>C | CA342802523 | RIT1 | c.*52T>G (n.*52T>G) c.215T>G (p.Phe72Cys) c.300T>G (p.Phe100Leu) c.323T>G (p.Phe108Cys) c.326T>G (p.Phe109Cys) c.374T>G (p.Phe125Cys) | |
| 1 | g.155904417A>G | CA342802526 | RIT1 | c.*52T>C (n.*52T>C) c.215T>C (p.Phe72Ser) c.300T>C (p.Phe100=) c.323T>C (p.Phe108Ser) c.326T>C (p.Phe109Ser) c.374T>C (p.Phe125Ser) | |
| 1 | g.155904417A>T | CA342802528 | RIT1 | c.*52T>A (n.*52T>A) c.215T>A (p.Phe72Tyr) c.300T>A (p.Phe100Leu) c.323T>A (p.Phe108Tyr) c.326T>A (p.Phe109Tyr) c.374T>A (p.Phe125Tyr) | |
| 1 | g.155904418A>C | CA342802530 | RIT1 | c.*51T>G (n.*51T>G) c.214T>G (p.Phe72Val) c.299T>G (p.Phe100Cys) c.322T>G (p.Phe108Val) c.325T>G (p.Phe109Val) c.373T>G (p.Phe125Val) | |
| 1 | g.155904418A>G | CA342802534 | RIT1 | c.*51T>C (n.*51T>C) c.214T>C (p.Phe72Leu) c.299T>C (p.Phe100Ser) c.322T>C (p.Phe108Leu) c.325T>C (p.Phe109Leu) c.373T>C (p.Phe125Leu) | |
| 1 | g.155904418A>T | CA342802532 | RIT1 | c.*51T>A (n.*51T>A) c.214T>A (p.Phe72Ile) c.299T>A (p.Phe100Tyr) c.322T>A (p.Phe108Ile) c.325T>A (p.Phe109Ile) c.373T>A (p.Phe125Ile) | |
| 1 | g.155904419A>C | CA342802536 | RIT1 | c.*50T>G (n.*50T>G) c.213T>G (p.Ser71Arg) c.298T>G (p.Phe100Val) c.321T>G (p.Ser107Arg) c.324T>G (p.Ser108Arg) c.372T>G (p.Ser124Arg) | |
| 1 | g.155904419A>G | CA421059014 | RIT1 | c.*50T>C (n.*50T>C) c.213T>C (p.Ser71=) c.298T>C (p.Phe100Leu) c.321T>C (p.Ser107=) c.324T>C (p.Ser108=) c.372T>C (p.Ser124=) | ClinVar dbSNP |
| 1 | g.155904419A>T | CA342802538 | RIT1 | c.*50T>A (n.*50T>A) c.213T>A (p.Ser71Arg) c.298T>A (p.Phe100Ile) c.321T>A (p.Ser107Arg) c.324T>A (p.Ser108Arg) c.372T>A (p.Ser124Arg) | |
| 1 | g.155904420C>A | CA342802541 | RIT1 | c.*49G>T (n.*49G>T) c.212G>T (p.Ser71Ile) c.297G>T (p.Lys99Asn) c.320G>T (p.Ser107Ile) c.323G>T (p.Ser108Ile) c.371G>T (p.Ser124Ile) | |
| 1 | g.155904420C>G | CA342802543 | RIT1 | c.*49G>C (n.*49G>C) c.212G>C (p.Ser71Thr) c.297G>C (p.Lys99Asn) c.320G>C (p.Ser107Thr) c.323G>C (p.Ser108Thr) c.371G>C (p.Ser124Thr) | |
| 1 | g.155904420C>T | CA342802546 | RIT1 | c.*49G>A (n.*49G>A) c.212G>A (p.Ser71Asn) c.297G>A (p.Lys99=) c.320G>A (p.Ser107Asn) c.323G>A (p.Ser108Asn) c.371G>A (p.Ser124Asn) | |
| 1 | g.155904421T>A | CA342802548 | RIT1 | c.*48A>T (n.*48A>T) c.211A>T (p.Ser71Cys) c.296A>T (p.Lys99Met) c.319A>T (p.Ser107Cys) c.322A>T (p.Ser108Cys) c.370A>T (p.Ser124Cys) | |
| 1 | g.155904421T>C | CA342802551 | RIT1 | c.*48A>G (n.*48A>G) c.211A>G (p.Ser71Gly) c.296A>G (p.Lys99Arg) c.319A>G (p.Ser107Gly) c.322A>G (p.Ser108Gly) c.370A>G (p.Ser124Gly) | |
| 1 | g.155904421T>G | CA342802553 | RIT1 | c.*48A>C (n.*48A>C) c.211A>C (p.Ser71Arg) c.296A>C (p.Lys99Thr) c.319A>C (p.Ser107Arg) c.322A>C (p.Ser108Arg) c.370A>C (p.Ser124Arg) | |
| 1 | g.155904422T>A | CA421059028 | RIT1 | c.*47A>T (n.*47A>T) c.210A>T (p.Arg70=) c.295A>T (p.Lys99Ter) c.318A>T (p.Arg106=) c.321A>T (p.Arg107=) c.369A>T (p.Arg123=) | |
| 1 | g.155904422T>C | CA421059032 | RIT1 | c.*47A>G (n.*47A>G) c.210A>G (p.Arg70=) c.295A>G (p.Lys99Glu) c.318A>G (p.Arg106=) c.321A>G (p.Arg107=) c.369A>G (p.Arg123=) | |
| 1 | g.155904422T>G | CA421059030 | RIT1 | c.*47A>C (n.*47A>C) c.210A>C (p.Arg70=) c.295A>C (p.Lys99Gln) c.318A>C (p.Arg106=) c.321A>C (p.Arg107=) c.369A>C (p.Arg123=) | |
| 1 | g.155904423C>A | CA342802557 | RIT1 | c.*46G>T (n.*46G>T) c.209G>T (p.Arg70Leu) c.294G>T (p.Ser98=) c.317G>T (p.Arg106Leu) c.320G>T (p.Arg107Leu) c.368G>T (p.Arg123Leu) | |
| 1 | g.155904423C>G | CA342802559 | RIT1 | c.*46G>C (n.*46G>C) c.209G>C (p.Arg70Pro) c.294G>C (p.Ser98=) c.317G>C (p.Arg106Pro) c.320G>C (p.Arg107Pro) c.368G>C (p.Arg123Pro) | |
| 1 | g.155904423C>T | CA342802561 | RIT1 | c.*46G>A (n.*46G>A) c.209G>A (p.Arg70Gln) c.294G>A (p.Ser98=) c.317G>A (p.Arg106Gln) c.320G>A (p.Arg107Gln) c.368G>A (p.Arg123Gln) | |
| 1 | g.155904424G>A | CA342802565 | RIT1 | c.*45C>T (n.*45C>T) c.208C>T (p.Arg70Ter) c.293C>T (p.Ser98Leu) c.316C>T (p.Arg106Ter) c.319C>T (p.Arg107Ter) c.367C>T (p.Arg123Ter) | gnomAD v4 |
| 1 | g.155904424G>C | CA342802568 | RIT1 | c.*45C>G (n.*45C>G) c.208C>G (p.Arg70Gly) c.293C>G (p.Ser98Trp) c.316C>G (p.Arg106Gly) c.319C>G (p.Arg107Gly) c.367C>G (p.Arg123Gly) | |
| 1 | g.155904424G= | CA1200375936 | RIT1 | c.*45C= (n.*45C=) c.208C= (p.Arg70=) c.293C= (p.Ser98=) c.316C= (p.Arg106=) c.319C= (p.Arg107=) c.367C= (p.Arg123=) | |
| 1 | g.155904424G>T | CA1151809 | RIT1 | c.*45C>A (n.*45C>A) c.208C>A (p.Arg70=) c.293C>A (p.Ser98Ter) c.316C>A (p.Arg106=) c.319C>A (p.Arg107=) c.367C>A (p.Arg123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.155904425A>C | CA421059047 | RIT1 | c.*44T>G (n.*44T>G) c.207T>G (p.Arg69=) c.292T>G (p.Ser98Ala) c.315T>G (p.Arg105=) c.318T>G (p.Arg106=) c.366T>G (p.Arg122=) | |
| 1 | g.155904425A>G | CA421059052 | RIT1 | c.*44T>C (n.*44T>C) c.207T>C (p.Arg69=) c.292T>C (p.Ser98Pro) c.315T>C (p.Arg105=) c.318T>C (p.Arg106=) c.366T>C (p.Arg122=) | |
| 1 | g.155904425A>T | CA421059049 | RIT1 | c.*44T>A (n.*44T>A) c.207T>A (p.Arg69=) c.292T>A (p.Ser98Thr) c.315T>A (p.Arg105=) c.318T>A (p.Arg106=) c.366T>A (p.Arg122=) | |
| 1 | g.155904426C>A | CA342802572 | RIT1 | c.*43G>T (n.*43G>T) c.206G>T (p.Arg69Leu) c.291G>T (p.Ser97=) c.314G>T (p.Arg105Leu) c.317G>T (p.Arg106Leu) c.365G>T (p.Arg122Leu) | |
| 1 | g.155904426C= | CA1148871257 | RIT1 | c.*43G= (n.*43G=) c.206G= (p.Arg69=) c.291G= (p.Ser97=) c.314G= (p.Arg105=) c.317G= (p.Arg106=) c.365G= (p.Arg122=) | |
| 1 | g.155904426C>G | CA342802574 | RIT1 | c.*43G>C (n.*43G>C) c.206G>C (p.Arg69Pro) c.291G>C (p.Ser97=) c.314G>C (p.Arg105Pro) c.317G>C (p.Arg106Pro) c.365G>C (p.Arg122Pro) | |
| 1 | g.155904426C>T | CA1151810 | RIT1 | c.*43G>A (n.*43G>A) c.206G>A (p.Arg69His) c.291G>A (p.Ser97=) c.314G>A (p.Arg105His) c.317G>A (p.Arg106His) c.365G>A (p.Arg122His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904427G>A | CA342802576 | RIT1 | c.*42C>T (n.*42C>T) c.205C>T (p.Arg69Cys) c.290C>T (p.Ser97Leu) c.313C>T (p.Arg105Cys) c.316C>T (p.Arg106Cys) c.364C>T (p.Arg122Cys) | ClinVar gnomAD v4 |
| 1 | g.155904427G>C | CA342802577 | RIT1 | c.*42C>G (n.*42C>G) c.205C>G (p.Arg69Gly) c.290C>G (p.Ser97Trp) c.313C>G (p.Arg105Gly) c.316C>G (p.Arg106Gly) c.364C>G (p.Arg122Gly) | |
| 1 | g.155904427G>T | CA342802579 | RIT1 | c.*42C>A (n.*42C>A) c.205C>A (p.Arg69Ser) c.290C>A (p.Ser97Ter) c.313C>A (p.Arg105Ser) c.316C>A (p.Arg106Ser) c.364C>A (p.Arg122Ser) | |
| 1 | g.155904428A>C | CA342802582 | RIT1 | c.*41T>G (n.*41T>G) c.204T>G (p.Asp68Glu) c.289T>G (p.Ser97Ala) c.312T>G (p.Asp104Glu) c.315T>G (p.Asp105Glu) c.363T>G (p.Asp121Glu) | |
| 1 | g.155904428A>G | CA421059066 | RIT1 | c.*41T>C (n.*41T>C) c.204T>C (p.Asp68=) c.289T>C (p.Ser97Pro) c.312T>C (p.Asp104=) c.315T>C (p.Asp105=) c.363T>C (p.Asp121=) | |
| 1 | g.155904428A>T | CA342802584 | RIT1 | c.*41T>A (n.*41T>A) c.204T>A (p.Asp68Glu) c.289T>A (p.Ser97Thr) c.312T>A (p.Asp104Glu) c.315T>A (p.Asp105Glu) c.363T>A (p.Asp121Glu) | |
| 1 | g.155904429T>A | CA342802586 | RIT1 | c.*40A>T (n.*40A>T) c.203A>T (p.Asp68Val) c.288A>T (p.Gly96=) c.311A>T (p.Asp104Val) c.314A>T (p.Asp105Val) c.362A>T (p.Asp121Val) | |
| 1 | g.155904429T>C | CA342802588 | RIT1 | c.*40A>G (n.*40A>G) c.203A>G (p.Asp68Gly) c.288A>G (p.Gly96=) c.311A>G (p.Asp104Gly) c.314A>G (p.Asp105Gly) c.362A>G (p.Asp121Gly) | |
| 1 | g.155904429T>G | CA342802590 | RIT1 | c.*40A>C (n.*40A>C) c.203A>C (p.Asp68Ala) c.288A>C (p.Gly96=) c.311A>C (p.Asp104Ala) c.314A>C (p.Asp105Ala) c.362A>C (p.Asp121Ala) | |
| 1 | g.155904430C>A | CA342802598 | RIT1 | c.*39G>T (n.*39G>T) c.202G>T (p.Asp68Tyr) c.287G>T (p.Gly96Val) c.310G>T (p.Asp104Tyr) c.313G>T (p.Asp105Tyr) c.361G>T (p.Asp121Tyr) | |
| 1 | g.155904430C>G | CA342802596 | RIT1 | c.*39G>C (n.*39G>C) c.202G>C (p.Asp68His) c.287G>C (p.Gly96Ala) c.310G>C (p.Asp104His) c.313G>C (p.Asp105His) c.361G>C (p.Asp121His) | |
| 1 | g.155904430C>T | CA342802593 | RIT1 | c.*39G>A (n.*39G>A) c.202G>A (p.Asp68Asn) c.287G>A (p.Gly96Glu) c.310G>A (p.Asp104Asn) c.313G>A (p.Asp105Asn) c.361G>A (p.Asp121Asn) | ClinVar gnomAD v4 |
| 1 | g.155904431C>A | CA421059077 | RIT1 | c.*38G>T (n.*38G>T) c.201G>T (p.Thr67=) c.286G>T (p.Gly96Ter) c.309G>T (p.Thr103=) c.312G>T (p.Thr104=) c.360G>T (p.Thr120=) | |
| 1 | g.155904431C= | CA1143726908 | RIT1 | c.*38G= (n.*38G=) c.201G= (p.Thr67=) c.286G= (p.Gly96=) c.309G= (p.Thr103=) c.312G= (p.Thr104=) c.360G= (p.Thr120=) | |
| 1 | g.155904431C>G | CA30984418 | RIT1 | c.*38G>C (n.*38G>C) c.201G>C (p.Thr67=) c.286G>C (p.Gly96Arg) c.309G>C (p.Thr103=) c.312G>C (p.Thr104=) c.360G>C (p.Thr120=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904431C>T | CA1151811 | RIT1 | c.*38G>A (n.*38G>A) c.201G>A (p.Thr67=) c.286G>A (p.Gly96Arg) c.309G>A (p.Thr103=) c.312G>A (p.Thr104=) c.360G>A (p.Thr120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904432G>A | CA342802602 | RIT1 | c.*37C>T (n.*37C>T) c.200C>T (p.Thr67Met) c.285C>T (p.His95=) c.308C>T (p.Thr103Met) c.311C>T (p.Thr104Met) c.359C>T (p.Thr120Met) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155904432G>C | CA342802603 | RIT1 | c.*37C>G (n.*37C>G) c.200C>G (p.Thr67Arg) c.285C>G (p.His95Gln) c.308C>G (p.Thr103Arg) c.311C>G (p.Thr104Arg) c.359C>G (p.Thr120Arg) | |
| 1 | g.155904432G= | CA1200375937 | RIT1 | c.*37C= (n.*37C=) c.200C= (p.Thr67=) c.285C= (p.His95=) c.308C= (p.Thr103=) c.311C= (p.Thr104=) c.359C= (p.Thr120=) | |
| 1 | g.155904432G>T | CA342802604 | RIT1 | c.*37C>A (n.*37C>A) c.200C>A (p.Thr67Lys) c.285C>A (p.His95Gln) c.308C>A (p.Thr103Lys) c.311C>A (p.Thr104Lys) c.359C>A (p.Thr120Lys) | |
| 1 | g.155904433T>A | CA342802605 | RIT1 | c.*36A>T (n.*36A>T) c.199A>T (p.Thr67Ser) c.284A>T (p.His95Leu) c.307A>T (p.Thr103Ser) c.310A>T (p.Thr104Ser) c.358A>T (p.Thr120Ser) | |
| 1 | g.155904433T>C | CA342802606 | RIT1 | c.*36A>G (n.*36A>G) c.199A>G (p.Thr67Ala) c.284A>G (p.His95Arg) c.307A>G (p.Thr103Ala) c.310A>G (p.Thr104Ala) c.358A>G (p.Thr120Ala) | gnomAD v4 |
| 1 | g.155904433T>G | CA342802607 | RIT1 | c.*36A>C (n.*36A>C) c.199A>C (p.Thr67Pro) c.284A>C (p.His95Pro) c.307A>C (p.Thr103Pro) c.310A>C (p.Thr104Pro) c.358A>C (p.Thr120Pro) | |
| 1 | g.155904434G>A | CA421059093 | RIT1 | c.*35C>T (n.*35C>T) c.198C>T (p.Ile66=) c.283C>T (p.His95Tyr) c.306C>T (p.Ile102=) c.309C>T (p.Ile103=) c.357C>T (p.Ile119=) | gnomAD v4 |
| 1 | g.155904434G>C | CA342802608 | RIT1 | c.*35C>G (n.*35C>G) c.198C>G (p.Ile66Met) c.283C>G (p.His95Asp) c.306C>G (p.Ile102Met) c.309C>G (p.Ile103Met) c.357C>G (p.Ile119Met) | |
| 1 | g.155904434G>T | CA421059097 | RIT1 | c.*35C>A (n.*35C>A) c.198C>A (p.Ile66=) c.283C>A (p.His95Asn) c.306C>A (p.Ile102=) c.309C>A (p.Ile103=) c.357C>A (p.Ile119=) | |
| 1 | g.155904435A>C | CA342802609 | RIT1 | c.*34T>G (n.*34T>G) c.197T>G (p.Ile66Ser) c.282T>G (p.Tyr94Ter) c.305T>G (p.Ile102Ser) c.308T>G (p.Ile103Ser) c.356T>G (p.Ile119Ser) | |
| 1 | g.155904435A>G | CA342802610 | RIT1 | c.*34T>C (n.*34T>C) c.197T>C (p.Ile66Thr) c.282T>C (p.Tyr94=) c.305T>C (p.Ile102Thr) c.308T>C (p.Ile103Thr) c.356T>C (p.Ile119Thr) | |
| 1 | g.155904435A>T | CA342802611 | RIT1 | c.*34T>A (n.*34T>A) c.197T>A (p.Ile66Asn) c.282T>A (p.Tyr94Ter) c.305T>A (p.Ile102Asn) c.308T>A (p.Ile103Asn) c.356T>A (p.Ile119Asn) | |
| 1 | g.155904436T>A | CA342802613 | RIT1 | c.*33A>T (n.*33A>T) c.196A>T (p.Ile66Phe) c.281A>T (p.Tyr94Phe) c.304A>T (p.Ile102Phe) c.307A>T (p.Ile103Phe) c.355A>T (p.Ile119Phe) | |
| 1 | g.155904436T>C | CA10602739 | RIT1 | c.*33A>G (n.*33A>G) c.196A>G (p.Ile66Val) c.281A>G (p.Tyr94Cys) c.304A>G (p.Ile102Val) c.307A>G (p.Ile103Val) c.355A>G (p.Ile119Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.155904436T>G | CA342802612 | RIT1 | c.*33A>C (n.*33A>C) c.196A>C (p.Ile66Leu) c.281A>C (p.Tyr94Ser) c.304A>C (p.Ile102Leu) c.307A>C (p.Ile103Leu) c.355A>C (p.Ile119Leu) | |
| 1 | g.155904436T= | CA1200375938 | RIT1 | c.*33A= (n.*33A=) c.196A= (p.Ile66=) c.281A= (p.Tyr94=) c.304A= (p.Ile102=) c.307A= (p.Ile103=) c.355A= (p.Ile119=) | |
| 1 | g.155904437A= | CA1200375939 | RIT1 | c.*32T= (n.*32T=) c.195T= (p.Ser65=) c.280T= (p.Tyr94=) c.303T= (p.Ser101=) c.306T= (p.Ser102=) c.354T= (p.Ser118=) | |
| 1 | g.155904437A>C | CA421059112 | RIT1 | c.*32T>G (n.*32T>G) c.195T>G (p.Ser65=) c.280T>G (p.Tyr94Asp) c.303T>G (p.Ser101=) c.306T>G (p.Ser102=) c.354T>G (p.Ser118=) | |
| 1 | g.155904437A>G | CA421059114 | RIT1 | c.*32T>C (n.*32T>C) c.195T>C (p.Ser65=) c.280T>C (p.Tyr94His) c.303T>C (p.Ser101=) c.306T>C (p.Ser102=) c.354T>C (p.Ser118=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155904437A>T | CA421059117 | RIT1 | c.*32T>A (n.*32T>A) c.195T>A (p.Ser65=) c.280T>A (p.Tyr94Asn) c.303T>A (p.Ser101=) c.306T>A (p.Ser102=) c.354T>A (p.Ser118=) | |
| 1 | g.155904438G>A | CA342802616 | RIT1 | c.*31C>T (n.*31C>T) c.194C>T (p.Ser65Phe) c.279C>T (p.Leu93=) c.302C>T (p.Ser101Phe) c.305C>T (p.Ser102Phe) c.353C>T (p.Ser118Phe) | |
| 1 | g.155904438G>C | CA342802614 | RIT1 | c.*31C>G (n.*31C>G) c.194C>G (p.Ser65Cys) c.279C>G (p.Leu93=) c.302C>G (p.Ser101Cys) c.305C>G (p.Ser102Cys) c.353C>G (p.Ser118Cys) | |
| 1 | g.155904438G>T | CA342802615 | RIT1 | c.*31C>A (n.*31C>A) c.194C>A (p.Ser65Tyr) c.279C>A (p.Leu93=) c.302C>A (p.Ser101Tyr) c.305C>A (p.Ser102Tyr) c.353C>A (p.Ser118Tyr) | |
| 1 | g.155904439A= | CA1200375940 | RIT1 | c.*30T= (n.*30T=) c.193T= (p.Ser65=) c.278T= (p.Leu93=) c.301T= (p.Ser101=) c.304T= (p.Ser102=) c.352T= (p.Ser118=) | |
| 1 | g.155904439A>C | CA342802617 | RIT1 | c.*30T>G (n.*30T>G) c.193T>G (p.Ser65Ala) c.278T>G (p.Leu93Arg) c.301T>G (p.Ser101Ala) c.304T>G (p.Ser102Ala) c.352T>G (p.Ser118Ala) | |
| 1 | g.155904439A>G | CA342802618 | RIT1 | c.*30T>C (n.*30T>C) c.193T>C (p.Ser65Pro) c.278T>C (p.Leu93Pro) c.301T>C (p.Ser101Pro) c.304T>C (p.Ser102Pro) c.352T>C (p.Ser118Pro) | |
| 1 | g.155904439A>T | CA342802620 | RIT1 | c.*30T>A (n.*30T>A) c.193T>A (p.Ser65Thr) c.278T>A (p.Leu93His) c.301T>A (p.Ser101Thr) c.304T>A (p.Ser102Thr) c.352T>A (p.Ser118Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155904440G>A | CA1151812 | RIT1 | c.*29C>T (n.*29C>T) c.192C>T (p.Tyr64=) c.277C>T (p.Leu93Phe) c.300C>T (p.Tyr100=) c.303C>T (p.Tyr101=) c.351C>T (p.Tyr117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904440G>C | CA342802624 | RIT1 | c.*29C>G (n.*29C>G) c.192C>G (p.Tyr64Ter) c.277C>G (p.Leu93Val) c.300C>G (p.Tyr100Ter) c.303C>G (p.Tyr101Ter) c.351C>G (p.Tyr117Ter) | |
| 1 | g.155904440G= | CA1143900113 | RIT1 | c.*29C= (n.*29C=) c.192C= (p.Tyr64=) c.277C= (p.Leu93=) c.300C= (p.Tyr100=) c.303C= (p.Tyr101=) c.351C= (p.Tyr117=) | |
| 1 | g.155904440G>T | CA342802626 | RIT1 | c.*29C>A (n.*29C>A) c.192C>A (p.Tyr64Ter) c.277C>A (p.Leu93Ile) c.300C>A (p.Tyr100Ter) c.303C>A (p.Tyr101Ter) c.351C>A (p.Tyr117Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155904441T>A | CA342802630 | RIT1 | c.*28A>T (n.*28A>T) c.191A>T (p.Tyr64Phe) c.276A>T (p.Leu92Phe) c.299A>T (p.Tyr100Phe) c.302A>T (p.Tyr101Phe) c.350A>T (p.Tyr117Phe) | |
| 1 | g.155904441T>C | CA342802631 | RIT1 | c.*28A>G (n.*28A>G) c.191A>G (p.Tyr64Cys) c.276A>G (p.Leu92=) c.299A>G (p.Tyr100Cys) c.302A>G (p.Tyr101Cys) c.350A>G (p.Tyr117Cys) | |
| 1 | g.155904441T>G | CA342802633 | RIT1 | c.*28A>C (n.*28A>C) c.191A>C (p.Tyr64Ser) c.276A>C (p.Leu92Phe) c.299A>C (p.Tyr100Ser) c.302A>C (p.Tyr101Ser) c.350A>C (p.Tyr117Ser) | |
| 1 | g.155904442A>C | CA342802640 | RIT1 | c.*27T>G (n.*27T>G) c.190T>G (p.Tyr64Asp) c.275T>G (p.Leu92Ter) c.298T>G (p.Tyr100Asp) c.301T>G (p.Tyr101Asp) c.349T>G (p.Tyr117Asp) | |
| 1 | g.155904442A>G | CA342802637 | RIT1 | c.*27T>C (n.*27T>C) c.190T>C (p.Tyr64His) c.275T>C (p.Leu92Ser) c.298T>C (p.Tyr100His) c.301T>C (p.Tyr101His) c.349T>C (p.Tyr117His) | |
| 1 | g.155904442A>T | CA342802635 | RIT1 | c.*27T>A (n.*27T>A) c.190T>A (p.Tyr64Asn) c.275T>A (p.Leu92Ter) c.298T>A (p.Tyr100Asn) c.301T>A (p.Tyr101Asn) c.349T>A (p.Tyr117Asn) | |
| 1 | g.155904443A>C | CA342802643 | RIT1 | c.*26T>G (n.*26T>G) c.189T>G (p.Cys63Trp) c.274T>G (p.Leu92Val) c.297T>G (p.Cys99Trp) c.300T>G (p.Cys100Trp) c.348T>G (p.Cys116Trp) | |
| 1 | g.155904443A>G | CA421059142 | RIT1 | c.*26T>C (n.*26T>C) c.189T>C (p.Cys63=) c.274T>C (p.Leu92=) c.297T>C (p.Cys99=) c.300T>C (p.Cys100=) c.348T>C (p.Cys116=) | |
| 1 | g.155904443A>T | CA342802645 | RIT1 | c.*26T>A (n.*26T>A) c.189T>A (p.Cys63Ter) c.274T>A (p.Leu92Ile) c.297T>A (p.Cys99Ter) c.300T>A (p.Cys100Ter) c.348T>A (p.Cys116Ter) | |
| 1 | g.155904444C>A | CA342802648 | RIT1 | c.*25G>T (n.*25G>T) c.188G>T (p.Cys63Phe) c.273G>T (p.Leu91=) c.296G>T (p.Cys99Phe) c.299G>T (p.Cys100Phe) c.347G>T (p.Cys116Phe) | |
| 1 | g.155904444C>G | CA342802650 | RIT1 | c.*25G>C (n.*25G>C) c.188G>C (p.Cys63Ser) c.273G>C (p.Leu91=) c.296G>C (p.Cys99Ser) c.299G>C (p.Cys100Ser) c.347G>C (p.Cys116Ser) | |
| 1 | g.155904444C>T | CA342802652 | RIT1 | c.*25G>A (n.*25G>A) c.188G>A (p.Cys63Tyr) c.273G>A (p.Leu91=) c.296G>A (p.Cys99Tyr) c.299G>A (p.Cys100Tyr) c.347G>A (p.Cys116Tyr) | |
| 1 | g.155904444_155904446delinsCAG | CA1200375941 | RIT1 | c.*23_*25delinsCTG (n.*23_*25delinsCTG) c.186_188delinsCTG (p.Ile62=) c.271_273delinsCTG (p.Leu91=) c.294_296delinsCTG (p.Ile98=) c.297_299delinsCTG (p.Ile99=) c.345_347delinsCTG (p.Ile115=) | |
| 1 | g.155904445A>C | CA342802656 | RIT1 | c.*24T>G (n.*24T>G) c.187T>G (p.Cys63Gly) c.272T>G (p.Leu91Arg) c.295T>G (p.Cys99Gly) c.298T>G (p.Cys100Gly) c.346T>G (p.Cys116Gly) | |
| 1 | g.155904445A>G | CA342802658 | RIT1 | c.*24T>C (n.*24T>C) c.187T>C (p.Cys63Arg) c.272T>C (p.Leu91Pro) c.295T>C (p.Cys99Arg) c.298T>C (p.Cys100Arg) c.346T>C (p.Cys116Arg) | |
| 1 | g.155904445A>T | CA342802660 | RIT1 | c.*24T>A (n.*24T>A) c.187T>A (p.Cys63Ser) c.272T>A (p.Leu91Gln) c.295T>A (p.Cys99Ser) c.298T>A (p.Cys100Ser) c.346T>A (p.Cys116Ser) | |
| 1 | g.155904446_155904447del | CA526670249 | RIT1 | c.*23_*24del (n.*23_*24del) c.186_187del (p.Ile62MetfsTer12) c.271_272del (p.Leu91ValfsTer?) c.294_295del (p.Ile98MetfsTer12) c.297_298del (p.Ile99MetfsTer12) c.345_346del (p.Ile115MetfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.155904446G>A | CA30984434 | RIT1 | c.*23C>T (n.*23C>T) c.186C>T (p.Ile62=) c.271C>T (p.Leu91=) c.294C>T (p.Ile98=) c.297C>T (p.Ile99=) c.345C>T (p.Ile115=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155904446G>C | CA342802666 | RIT1 | c.*23C>G (n.*23C>G) c.186C>G (p.Ile62Met) c.271C>G (p.Leu91Val) c.294C>G (p.Ile98Met) c.297C>G (p.Ile99Met) c.345C>G (p.Ile115Met) | dbSNP gnomAD v2 |
| 1 | g.155904446G= | CA1145344177 | RIT1 | c.*23C= (n.*23C=) c.186C= (p.Ile62=) c.271C= (p.Leu91=) c.294C= (p.Ile98=) c.297C= (p.Ile99=) c.345C= (p.Ile115=) | |
| 1 | g.155904446G>T | CA421059154 | RIT1 | c.*23C>A (n.*23C>A) c.186C>A (p.Ile62=) c.271C>A (p.Leu91Met) c.294C>A (p.Ile98=) c.297C>A (p.Ile99=) c.345C>A (p.Ile115=) | |
| 1 | g.155904447A>C | CA342802668 | RIT1 | c.*22T>G (n.*22T>G) c.185T>G (p.Ile62Ser) c.270T>G (p.His90Gln) c.293T>G (p.Ile98Ser) c.296T>G (p.Ile99Ser) c.344T>G (p.Ile115Ser) | |
| 1 | g.155904447A>G | CA342802670 | RIT1 | c.*22T>C (n.*22T>C) c.185T>C (p.Ile62Thr) c.270T>C (p.His90=) c.293T>C (p.Ile98Thr) c.296T>C (p.Ile99Thr) c.344T>C (p.Ile115Thr) | |
| 1 | g.155904447A>T | CA342802672 | RIT1 | c.*22T>A (n.*22T>A) c.185T>A (p.Ile62Asn) c.270T>A (p.His90Gln) c.293T>A (p.Ile98Asn) c.296T>A (p.Ile99Asn) c.344T>A (p.Ile115Asn) | |
| 1 | g.155904448T>A | CA342802678 | RIT1 | c.*21A>T (n.*21A>T) c.184A>T (p.Ile62Phe) c.269A>T (p.His90Leu) c.292A>T (p.Ile98Phe) c.295A>T (p.Ile99Phe) c.343A>T (p.Ile115Phe) | ClinVar |
| 1 | g.155904448T>C | CA342802680 | RIT1 | c.*21A>G (n.*21A>G) c.184A>G (p.Ile62Val) c.269A>G (p.His90Arg) c.292A>G (p.Ile98Val) c.295A>G (p.Ile99Val) c.343A>G (p.Ile115Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155904448T>G | CA342802676 | RIT1 | c.*21A>C (n.*21A>C) c.184A>C (p.Ile62Leu) c.269A>C (p.His90Pro) c.292A>C (p.Ile98Leu) c.295A>C (p.Ile99Leu) c.343A>C (p.Ile115Leu) | |
| 1 | g.155904449G>A | CA421059167 | RIT1 | c.*20C>T (n.*20C>T) c.183C>T (p.Ile61=) c.268C>T (p.His90Tyr) c.291C>T (p.Ile97=) c.294C>T (p.Ile98=) c.342C>T (p.Ile114=) | |
| 1 | g.155904449G>C | CA342802684 | RIT1 | c.*20C>G (n.*20C>G) c.183C>G (p.Ile61Met) c.268C>G (p.His90Asp) c.291C>G (p.Ile97Met) c.294C>G (p.Ile98Met) c.342C>G (p.Ile114Met) | |
| 1 | g.155904449G= | CA1144185740 | RIT1 | c.*20C= (n.*20C=) c.183C= (p.Ile61=) c.268C= (p.His90=) c.291C= (p.Ile97=) c.294C= (p.Ile98=) c.342C= (p.Ile114=) | |
| 1 | g.155904449G>T | CA1151813 | RIT1 | c.*20C>A (n.*20C>A) c.183C>A (p.Ile61=) c.268C>A (p.His90Asn) c.291C>A (p.Ile97=) c.294C>A (p.Ile98=) c.342C>A (p.Ile114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904450A>C | CA342802687 | RIT1 | c.*19T>G (n.*19T>G) c.182T>G (p.Ile61Ser) c.267T>G (p.Tyr89Ter) c.290T>G (p.Ile97Ser) c.293T>G (p.Ile98Ser) c.341T>G (p.Ile114Ser) | |
| 1 | g.155904450A>G | CA342802689 | RIT1 | c.*19T>C (n.*19T>C) c.182T>C (p.Ile61Thr) c.267T>C (p.Tyr89=) c.290T>C (p.Ile97Thr) c.293T>C (p.Ile98Thr) c.341T>C (p.Ile114Thr) | |
| 1 | g.155904450A>T | CA342802691 | RIT1 | c.*19T>A (n.*19T>A) c.182T>A (p.Ile61Asn) c.267T>A (p.Tyr89Ter) c.290T>A (p.Ile97Asn) c.293T>A (p.Ile98Asn) c.341T>A (p.Ile114Asn) | |
| 1 | g.155904451T>A | CA342802694 | RIT1 | c.*18A>T (n.*18A>T) c.181A>T (p.Ile61Phe) c.266A>T (p.Tyr89Phe) c.289A>T (p.Ile97Phe) c.292A>T (p.Ile98Phe) c.340A>T (p.Ile114Phe) | |
| 1 | g.155904451T>C | CA342802696 | RIT1 | c.*18A>G (n.*18A>G) c.181A>G (p.Ile61Val) c.266A>G (p.Tyr89Cys) c.289A>G (p.Ile97Val) c.292A>G (p.Ile98Val) c.340A>G (p.Ile114Val) | |
| 1 | g.155904451T>G | CA342802698 | RIT1 | c.*18A>C (n.*18A>C) c.181A>C (p.Ile61Leu) c.266A>C (p.Tyr89Ser) c.289A>C (p.Ile97Leu) c.292A>C (p.Ile98Leu) c.340A>C (p.Ile114Leu) | ClinVar |
| 1 | g.155904452A>C | CA342802701 | RIT1 | c.*17T>G (n.*17T>G) c.180T>G (p.Phe60Leu) c.265T>G (p.Tyr89Asp) c.288T>G (p.Phe96Leu) c.291T>G (p.Phe97Leu) c.339T>G (p.Phe113Leu) | |
| 1 | g.155904452A>G | CA421059183 | RIT1 | c.*17T>C (n.*17T>C) c.180T>C (p.Phe60=) c.265T>C (p.Tyr89His) c.288T>C (p.Phe96=) c.291T>C (p.Phe97=) c.339T>C (p.Phe113=) | |
| 1 | g.155904452A>T | CA342802703 | RIT1 | c.*17T>A (n.*17T>A) c.180T>A (p.Phe60Leu) c.265T>A (p.Tyr89Asn) c.288T>A (p.Phe96Leu) c.291T>A (p.Phe97Leu) c.339T>A (p.Phe113Leu) | |
| 1 | g.155904453A>C | CA342802705 | RIT1 | c.*16T>G (n.*16T>G) c.179T>G (p.Phe60Cys) c.264T>G (p.Val88=) c.287T>G (p.Phe96Cys) c.290T>G (p.Phe97Cys) c.338T>G (p.Phe113Cys) | |
| 1 | g.155904453A>G | CA342802707 | RIT1 | c.*16T>C (n.*16T>C) c.179T>C (p.Phe60Ser) c.264T>C (p.Val88=) c.287T>C (p.Phe96Ser) c.290T>C (p.Phe97Ser) c.338T>C (p.Phe113Ser) | |
| 1 | g.155904453A>T | CA342802709 | RIT1 | c.*16T>A (n.*16T>A) c.179T>A (p.Phe60Tyr) c.264T>A (p.Val88=) c.287T>A (p.Phe96Tyr) c.290T>A (p.Phe97Tyr) c.338T>A (p.Phe113Tyr) | |
| 1 | g.155904454A>C | CA342802714 | RIT1 | c.*15T>G (n.*15T>G) c.178T>G (p.Phe60Val) c.263T>G (p.Val88Gly) c.286T>G (p.Phe96Val) c.289T>G (p.Phe97Val) c.337T>G (p.Phe113Val) | |
| 1 | g.155904454A>G | CA342802717 | RIT1 | c.*15T>C (n.*15T>C) c.178T>C (p.Phe60Leu) c.263T>C (p.Val88Ala) c.286T>C (p.Phe96Leu) c.289T>C (p.Phe97Leu) c.337T>C (p.Phe113Leu) | |
| 1 | g.155904454A>T | CA342802712 | RIT1 | c.*15T>A (n.*15T>A) c.178T>A (p.Phe60Ile) c.263T>A (p.Val88Asp) c.286T>A (p.Phe96Ile) c.289T>A (p.Phe97Ile) c.337T>A (p.Phe113Ile) | |
| 1 | g.155904455C>A | CA421059203 | RIT1 | c.*14G>T (n.*14G>T) c.177G>T (p.Gly59=) c.262G>T (p.Val88Phe) c.285G>T (p.Gly95=) c.288G>T (p.Gly96=) c.336G>T (p.Gly112=) | |
| 1 | g.155904455C= | CA1200375942 | RIT1 | c.*14G= (n.*14G=) c.177G= (p.Gly59=) c.262G= (p.Val88=) c.285G= (p.Gly95=) c.288G= (p.Gly96=) c.336G= (p.Gly112=) | |
| 1 | g.155904455C>G | CA421059205 | RIT1 | c.*14G>C (n.*14G>C) c.177G>C (p.Gly59=) c.262G>C (p.Val88Leu) c.285G>C (p.Gly95=) c.288G>C (p.Gly96=) c.336G>C (p.Gly112=) | |
| 1 | g.155904455C>T | CA421059206 | RIT1 | c.*14G>A (n.*14G>A) c.177G>A (p.Gly59=) c.262G>A (p.Val88Ile) c.285G>A (p.Gly95=) c.288G>A (p.Gly96=) c.336G>A (p.Gly112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904456C>A | CA342802720 | RIT1 | c.*13G>T (n.*13G>T) c.176G>T (p.Gly59Val) c.261G>T (p.Arg87Ser) c.284G>T (p.Gly95Val) c.287G>T (p.Gly96Val) c.335G>T (p.Gly112Val) | |
| 1 | g.155904456C= | CA1148224777 | RIT1 | c.*13G= (n.*13G=) c.176G= (p.Gly59=) c.261G= (p.Arg87=) c.284G= (p.Gly95=) c.287G= (p.Gly96=) c.335G= (p.Gly112=) | |
| 1 | g.155904456C>G | CA144538 | RIT1 | c.*13G>C (n.*13G>C) c.176G>C (p.Gly59Ala) c.261G>C (p.Arg87Ser) c.284G>C (p.Gly95Ala) c.287G>C (p.Gly96Ala) c.335G>C (p.Gly112Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.155904456C>T | CA342802723 | RIT1 | c.*13G>A (n.*13G>A) c.176G>A (p.Gly59Glu) c.261G>A (p.Arg87=) c.284G>A (p.Gly95Glu) c.287G>A (p.Gly96Glu) c.335G>A (p.Gly112Glu) | |
| 1 | g.155904457C>A | CA342802726 | RIT1 | c.*12G>T (n.*12G>T) c.175G>T (p.Gly59Trp) c.260G>T (p.Arg87Met) c.283G>T (p.Gly95Trp) c.286G>T (p.Gly96Trp) c.334G>T (p.Gly112Trp) | |
| 1 | g.155904457C>G | CA342802728 | RIT1 | c.*12G>C (n.*12G>C) c.175G>C (p.Gly59Arg) c.260G>C (p.Arg87Thr) c.283G>C (p.Gly95Arg) c.286G>C (p.Gly96Arg) c.334G>C (p.Gly112Arg) | |
| 1 | g.155904457C>T | CA342802731 | RIT1 | c.*12G>A (n.*12G>A) c.175G>A (p.Gly59Arg) c.260G>A (p.Arg87Lys) c.283G>A (p.Gly95Arg) c.286G>A (p.Gly96Arg) c.334G>A (p.Gly112Arg) | |
| 1 | g.155904458T>A | CA342802736 | RIT1 | c.*11A>T (n.*11A>T) c.174A>T (p.Glu58Asp) c.259A>T (p.Arg87Trp) c.282A>T (p.Glu94Asp) c.285A>T (p.Glu95Asp) c.333A>T (p.Glu111Asp) | |
| 1 | g.155904458T>C | CA421059214 | RIT1 | c.*11A>G (n.*11A>G) c.174A>G (p.Glu58=) c.259A>G (p.Arg87Gly) c.282A>G (p.Glu94=) c.285A>G (p.Glu95=) c.333A>G (p.Glu111=) | |
| 1 | g.155904458T>G | CA342802734 | RIT1 | c.*11A>C (n.*11A>C) c.174A>C (p.Glu58Asp) c.259A>C (p.Arg87=) c.282A>C (p.Glu94Asp) c.285A>C (p.Glu95Asp) c.333A>C (p.Glu111Asp) | |
| 1 | g.155904459T>A | CA342802739 | RIT1 | c.*10A>T (n.*10A>T) c.173A>T (p.Glu58Val) c.258A>T (p.Arg86Ser) c.281A>T (p.Glu94Val) c.284A>T (p.Glu95Val) c.332A>T (p.Glu111Val) | |
| 1 | g.155904459T>C | CA342802741 | RIT1 | c.*10A>G (n.*10A>G) c.173A>G (p.Glu58Gly) c.258A>G (p.Arg86=) c.281A>G (p.Glu94Gly) c.284A>G (p.Glu95Gly) c.332A>G (p.Glu111Gly) | |
| 1 | g.155904459T>G | CA342802743 | RIT1 | c.*10A>C (n.*10A>C) c.173A>C (p.Glu58Ala) c.258A>C (p.Arg86Ser) c.281A>C (p.Glu94Ala) c.284A>C (p.Glu95Ala) c.332A>C (p.Glu111Ala) | |
| 1 | g.155904460C>A | CA342802747 | RIT1 | c.*9G>T (n.*9G>T) c.172G>T (p.Glu58Ter) c.257G>T (p.Arg86Ile) c.280G>T (p.Glu94Ter) c.283G>T (p.Glu95Ter) c.331G>T (p.Glu111Ter) | ClinVar dbSNP |
| 1 | g.155904460C>G | CA342802749 | RIT1 | c.*9G>C (n.*9G>C) c.172G>C (p.Glu58Gln) c.257G>C (p.Arg86Thr) c.280G>C (p.Glu94Gln) c.283G>C (p.Glu95Gln) c.331G>C (p.Glu111Gln) | |
| 1 | g.155904460C>T | CA342802752 | RIT1 | c.*9G>A (n.*9G>A) c.172G>A (p.Glu58Lys) c.257G>A (p.Arg86Lys) c.280G>A (p.Glu94Lys) c.283G>A (p.Glu95Lys) c.331G>A (p.Glu111Lys) | |
| 1 | g.155904461T>A | CA421059230 | RIT1 | c.*8A>T (n.*8A>T) c.171A>T (p.Gly57=) c.256A>T (p.Arg86Ter) c.279A>T (p.Gly93=) c.282A>T (p.Gly94=) c.330A>T (p.Gly110=) | |
| 1 | g.155904461T>C | CA421059232 | RIT1 | c.*8A>G (n.*8A>G) c.171A>G (p.Gly57=) c.256A>G (p.Arg86Gly) c.279A>G (p.Gly93=) c.282A>G (p.Gly94=) c.330A>G (p.Gly110=) | |
| 1 | g.155904461T>G | CA421059235 | RIT1 | c.*8A>C (n.*8A>C) c.171A>C (p.Gly57=) c.256A>C (p.Arg86=) c.279A>C (p.Gly93=) c.282A>C (p.Gly94=) c.330A>C (p.Gly110=) | |
| 1 | g.155904462C>A | CA342802756 | RIT1 | c.*7G>T (n.*7G>T) c.170G>T (p.Gly57Val) c.255G>T (p.Arg85Ser) c.278G>T (p.Gly93Val) c.281G>T (p.Gly94Val) c.329G>T (p.Gly110Val) | gnomAD v4 |
| 1 | g.155904462C>G | CA342802755 | RIT1 | c.*7G>C (n.*7G>C) c.170G>C (p.Gly57Ala) c.255G>C (p.Arg85Ser) c.278G>C (p.Gly93Ala) c.281G>C (p.Gly94Ala) c.329G>C (p.Gly110Ala) | |
| 1 | g.155904462C>T | CA342802754 | RIT1 | c.*7G>A (n.*7G>A) c.170G>A (p.Gly57Glu) c.255G>A (p.Arg85=) c.278G>A (p.Gly93Glu) c.281G>A (p.Gly94Glu) c.329G>A (p.Gly110Glu) | |
| 1 | g.155904463C>A | CA342802759 | RIT1 | c.*6G>T (n.*6G>T) c.169G>T (p.Gly57Ter) c.254G>T (p.Arg85Met) c.277G>T (p.Gly93Ter) c.280G>T (p.Gly94Ter) c.328G>T (p.Gly110Ter) | |
| 1 | g.155904463C>G | CA342802763 | RIT1 | c.*6G>C (n.*6G>C) c.169G>C (p.Gly57Arg) c.254G>C (p.Arg85Thr) c.277G>C (p.Gly93Arg) c.280G>C (p.Gly94Arg) c.328G>C (p.Gly110Arg) | |
| 1 | g.155904463C>T | CA342802761 | RIT1 | c.*6G>A (n.*6G>A) c.169G>A (p.Gly57Arg) c.254G>A (p.Arg85Lys) c.277G>A (p.Gly93Arg) c.280G>A (p.Gly94Arg) c.328G>A (p.Gly110Arg) | |
| 1 | g.155904464T>A | CA421059249 | RIT1 | c.*5A>T (n.*5A>T) c.168A>T (p.Ala56=) c.253A>T (p.Arg85Trp) c.276A>T (p.Ala92=) c.279A>T (p.Ala93=) c.327A>T (p.Ala109=) | |
| 1 | g.155904464T>C | CA421059250 | RIT1 | c.*5A>G (n.*5A>G) c.168A>G (p.Ala56=) c.253A>G (p.Arg85Gly) c.276A>G (p.Ala92=) c.279A>G (p.Ala93=) c.327A>G (p.Ala109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155904464T>G | CA421059253 | RIT1 | c.*5A>C (n.*5A>C) c.168A>C (p.Ala56=) c.253A>C (p.Arg85=) c.276A>C (p.Ala92=) c.279A>C (p.Ala93=) c.327A>C (p.Ala109=) | |
| 1 | g.155904464T= | CA1200375943 | RIT1 | c.*5A= (n.*5A=) c.168A= (p.Ala56=) c.253A= (p.Arg85=) c.276A= (p.Ala92=) c.279A= (p.Ala93=) c.327A= (p.Ala109=) | |
| 1 | g.155904465G>A | CA342802767 | RIT1 | c.*4C>T (n.*4C>T) c.167C>T (p.Ala56Val) c.252C>T (p.Gly84=) c.275C>T (p.Ala92Val) c.278C>T (p.Ala93Val) c.326C>T (p.Ala109Val) | |
| 1 | g.155904465G>C | CA342802772 | RIT1 | c.*4C>G (n.*4C>G) c.167C>G (p.Ala56Gly) c.252C>G (p.Gly84=) c.275C>G (p.Ala92Gly) c.278C>G (p.Ala93Gly) c.326C>G (p.Ala109Gly) | |
| 1 | g.155904465G>T | CA342802769 | RIT1 | c.*4C>A (n.*4C>A) c.167C>A (p.Ala56Glu) c.252C>A (p.Gly84=) c.275C>A (p.Ala92Glu) c.278C>A (p.Ala93Glu) c.326C>A (p.Ala109Glu) | |
| 1 | g.155904466C>A | CA342802775 | RIT1 | c.*3G>T (n.*3G>T) c.166G>T (p.Ala56Ser) c.251G>T (p.Gly84Val) c.274G>T (p.Ala92Ser) c.277G>T (p.Ala93Ser) c.325G>T (p.Ala109Ser) | ClinVar |
| 1 | g.155904466C>G | CA342802779 | RIT1 | c.*3G>C (n.*3G>C) c.166G>C (p.Ala56Pro) c.251G>C (p.Gly84Ala) c.274G>C (p.Ala92Pro) c.277G>C (p.Ala93Pro) c.325G>C (p.Ala109Pro) | |
| 1 | g.155904466C>T | CA342802777 | RIT1 | c.*3G>A (n.*3G>A) c.166G>A (p.Ala56Thr) c.251G>A (p.Gly84Asp) c.274G>A (p.Ala92Thr) c.277G>A (p.Ala93Thr) c.325G>A (p.Ala109Thr) | |
| 1 | g.155904467C>A | CA342802782 | RIT1 | c.*2G>T (n.*2G>T) c.165G>T (p.Arg55Ser) c.250G>T (p.Gly84Cys) c.273G>T (p.Arg91Ser) c.276G>T (p.Arg92Ser) c.324G>T (p.Arg108Ser) | |
| 1 | g.155904467C>G | CA342802784 | RIT1 | c.*2G>C (n.*2G>C) c.165G>C (p.Arg55Ser) c.250G>C (p.Gly84Arg) c.273G>C (p.Arg91Ser) c.276G>C (p.Arg92Ser) c.324G>C (p.Arg108Ser) | |
| 1 | g.155904467C>T | CA421059264 | RIT1 | c.*2G>A (n.*2G>A) c.165G>A (p.Arg55=) c.250G>A (p.Gly84Ser) c.273G>A (p.Arg91=) c.276G>A (p.Arg92=) c.324G>A (p.Arg108=) | ClinVar |
| 1 | g.155904468C>A | CA342802787 | RIT1 | c.*1G>T (n.*1G>T) c.164G>T (p.Arg55Met) c.249G>T (p.Glu83Asp) c.272G>T (p.Arg91Met) c.275G>T (p.Arg92Met) c.323G>T (p.Arg108Met) | |
| 1 | g.155904468C>G | CA342802789 | RIT1 | c.*1G>C (n.*1G>C) c.164G>C (p.Arg55Thr) c.249G>C (p.Glu83Asp) c.272G>C (p.Arg91Thr) c.275G>C (p.Arg92Thr) c.323G>C (p.Arg108Thr) | |
| 1 | g.155904468C>T | CA342802792 | RIT1 | c.*1G>A (n.*1G>A) c.164G>A (p.Arg55Lys) c.249G>A (p.Glu83=) c.272G>A (p.Arg91Lys) c.275G>A (p.Arg92Lys) c.323G>A (p.Arg108Lys) | ClinVar dbSNP |
| 1 | g.155904469T>A | CA342802795 | RIT1 | c.279A>T (p.Ter93Cys) c.163A>T (p.Arg55Trp) c.248A>T (p.Glu83Val) c.271A>T (p.Arg91Trp) c.274A>T (p.Arg92Trp) c.322A>T (p.Arg108Trp) | |
| 1 | g.155904469T>C | CA342802796 | RIT1 | c.279A>G (p.Ter93Trp) c.163A>G (p.Arg55Gly) c.248A>G (p.Glu83Gly) c.271A>G (p.Arg91Gly) c.274A>G (p.Arg92Gly) c.322A>G (p.Arg108Gly) | |
| 1 | g.155904469T>G | CA421059274 | RIT1 | c.279A>C (p.Ter93Cys) c.163A>C (p.Arg55=) c.248A>C (p.Glu83Ala) c.271A>C (p.Arg91=) c.274A>C (p.Arg92=) c.322A>C (p.Arg108=) |