Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122261883T>A | CA354151485 | CASR | c.848T>A (p.Ile283Asn) c.365T>A (p.Ile122Asn) c.260T>A (p.Ile87Asn) | |
3 | g.122261883T>C | CA2569545 | CASR | c.848T>C (p.Ile283Thr) c.365T>C (p.Ile122Thr) c.260T>C (p.Ile87Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261883T>G | CA354151486 | CASR | c.848T>G (p.Ile283Ser) c.365T>G (p.Ile122Ser) c.260T>G (p.Ile87Ser) | |
3 | g.122261883T= | CA1397873152 | CASR | c.848T= (p.Ile283=) c.365T= (p.Ile122=) c.260T= (p.Ile87=) | |
3 | g.122261884T>A | CA435424450 | CASR | c.849T>A (p.Ile283=) c.366T>A (p.Ile122=) c.261T>A (p.Ile87=) | ClinVar |
3 | g.122261884T>C | CA435424451 | CASR | c.849T>C (p.Ile283=) c.366T>C (p.Ile122=) c.261T>C (p.Ile87=) | ClinVar dbSNP |
3 | g.122261884T>G | CA354151487 | CASR | c.849T>G (p.Ile283Met) c.366T>G (p.Ile122Met) c.261T>G (p.Ile87Met) | |
3 | g.122261884T= | CA1397873154 | CASR | c.849T= (p.Ile283=) c.366T= (p.Ile122=) c.261T= (p.Ile87=) | |
3 | g.122261885G>A | CA354151488 | CASR | c.850G>A (p.Val284Ile) c.367G>A (p.Val123Ile) c.262G>A (p.Val88Ile) | ClinVar |
3 | g.122261885G>C | CA354151489 | CASR | c.850G>C (p.Val284Leu) c.367G>C (p.Val123Leu) c.262G>C (p.Val88Leu) | |
3 | g.122261885G>T | CA354151490 | CASR | c.850G>T (p.Val284Phe) c.367G>T (p.Val123Phe) c.262G>T (p.Val88Phe) | gnomAD v4 COSMIC |
3 | g.122261886T>A | CA354151493 | CASR | c.851T>A (p.Val284Asp) c.368T>A (p.Val123Asp) c.263T>A (p.Val88Asp) | gnomAD v4 |
3 | g.122261886T>C | CA354151492 | CASR | c.851T>C (p.Val284Ala) c.368T>C (p.Val123Ala) c.263T>C (p.Val88Ala) | ClinVar dbSNP |
3 | g.122261886T>G | CA354151491 | CASR | c.851T>G (p.Val284Gly) c.368T>G (p.Val123Gly) c.263T>G (p.Val88Gly) | |
3 | g.122261886T= | CA1397873157 | CASR | c.851T= (p.Val284=) c.368T= (p.Val123=) c.263T= (p.Val88=) | |
3 | g.122261887C>A | CA435424452 | CASR | c.852C>A (p.Val284=) c.369C>A (p.Val123=) c.264C>A (p.Val88=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261887C= | CA1397873158 | CASR | c.852C= (p.Val284=) c.369C= (p.Val123=) c.264C= (p.Val88=) | |
3 | g.122261887C>G | CA435424454 | CASR | c.852C>G (p.Val284=) c.369C>G (p.Val123=) c.264C>G (p.Val88=) | |
3 | g.122261887C>T | CA435424453 | CASR | c.852C>T (p.Val284=) c.369C>T (p.Val123=) c.264C>T (p.Val88=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261888C>A | CA435424455 | CASR | c.853C>A (p.Arg285=) c.370C>A (p.Arg124=) c.265C>A (p.Arg89=) | COSMIC |
3 | g.122261888C= | CA1397873161 | CASR | c.853C= (p.Arg285=) c.370C= (p.Arg124=) c.265C= (p.Arg89=) | |
3 | g.122261888C>G | CA354151494 | CASR | c.853C>G (p.Arg285Gly) c.370C>G (p.Arg124Gly) c.265C>G (p.Arg89Gly) | |
3 | g.122261888C>T | CA354151495 | CASR | c.853C>T (p.Arg285Trp) c.370C>T (p.Arg124Trp) c.265C>T (p.Arg89Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261889G>A | CA10582120 | CASR | c.854G>A (p.Arg285Gln) c.371G>A (p.Arg124Gln) c.266G>A (p.Arg89Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261889G>C | CA2569546 | CASR | c.854G>C (p.Arg285Pro) c.371G>C (p.Arg124Pro) c.266G>C (p.Arg89Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261889G= | CA1397873162 | CASR | c.854G= (p.Arg285=) c.371G= (p.Arg124=) c.266G= (p.Arg89=) | |
3 | g.122261889G>T | CA354151496 | CASR | c.854G>T (p.Arg285Leu) c.371G>T (p.Arg124Leu) c.266G>T (p.Arg89Leu) | gnomAD v4 |
3 | g.122261890G>A | CA435424457 | CASR | c.855G>A (p.Arg285=) c.372G>A (p.Arg124=) c.267G>A (p.Arg89=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261890G>C | CA435424458 | CASR | c.855G>C (p.Arg285=) c.372G>C (p.Arg124=) c.267G>C (p.Arg89=) | |
3 | g.122261890G= | CA1397873164 | CASR | c.855G= (p.Arg285=) c.372G= (p.Arg124=) c.267G= (p.Arg89=) | |
3 | g.122261890G>T | CA435424459 | CASR | c.855G>T (p.Arg285=) c.372G>T (p.Arg124=) c.267G>T (p.Arg89=) | ClinVar dbSNP |
3 | g.122261891C>A | CA354151497 | CASR | c.856C>A (p.Arg286Ser) c.373C>A (p.Arg125Ser) c.268C>A (p.Arg90Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122261891C= | CA1397873166 | CASR | c.856C= (p.Arg286=) c.373C= (p.Arg125=) c.268C= (p.Arg90=) | |
3 | g.122261891C>G | CA354151498 | CASR | c.856C>G (p.Arg286Gly) c.373C>G (p.Arg125Gly) c.268C>G (p.Arg90Gly) | |
3 | g.122261891C>T | CA16611296 | CASR | c.856C>T (p.Arg286Cys) c.373C>T (p.Arg125Cys) c.268C>T (p.Arg90Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261892G>A | CA82738600 | CASR | c.857G>A (p.Arg286His) c.374G>A (p.Arg125His) c.269G>A (p.Arg90His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261892G>C | CA354151500 | CASR | c.857G>C (p.Arg286Pro) c.374G>C (p.Arg125Pro) c.269G>C (p.Arg90Pro) | ClinVar dbSNP |
3 | g.122261892G= | CA1397873169 | CASR | c.857G= (p.Arg286=) c.374G= (p.Arg125=) c.269G= (p.Arg90=) | |
3 | g.122261892G>T | CA354151499 | CASR | c.857G>T (p.Arg286Leu) c.374G>T (p.Arg125Leu) c.269G>T (p.Arg90Leu) | |
3 | g.122261893C>A | CA435424483 | CASR | c.858C>A (p.Arg286=) c.375C>A (p.Arg125=) c.270C>A (p.Arg90=) | |
3 | g.122261893C>G | CA435424484 | CASR | c.858C>G (p.Arg286=) c.375C>G (p.Arg125=) c.270C>G (p.Arg90=) | |
3 | g.122261893C>T | CA435424485 | CASR | c.858C>T (p.Arg286=) c.375C>T (p.Arg125=) c.270C>T (p.Arg90=) | ClinVar dbSNP |
3 | g.122261894A>C | CA354151501 | CASR | c.859A>C (p.Asn287His) c.376A>C (p.Asn126His) c.271A>C (p.Asn91His) | ClinVar dbSNP |
3 | g.122261894A>G | CA354151503 | CASR | c.859A>G (p.Asn287Asp) c.376A>G (p.Asn126Asp) c.271A>G (p.Asn91Asp) | |
3 | g.122261894A>T | CA354151502 | CASR | c.859A>T (p.Asn287Tyr) c.376A>T (p.Asn126Tyr) c.271A>T (p.Asn91Tyr) | |
3 | g.122261895A= | CA1397873172 | CASR | c.860A= (p.Asn287=) c.377A= (p.Asn126=) c.272A= (p.Asn91=) | |
3 | g.122261895A>C | CA354151504 | CASR | c.860A>C (p.Asn287Thr) c.377A>C (p.Asn126Thr) c.272A>C (p.Asn91Thr) | |
3 | g.122261895A>G | CA354151506 | CASR | c.860A>G (p.Asn287Ser) c.377A>G (p.Asn126Ser) c.272A>G (p.Asn91Ser) | ClinVar dbSNP |
3 | g.122261895A>T | CA354151505 | CASR | c.860A>T (p.Asn287Ile) c.377A>T (p.Asn126Ile) c.272A>T (p.Asn91Ile) | |
3 | g.122261896T>A | CA354151507 | CASR | c.861T>A (p.Asn287Lys) c.378T>A (p.Asn126Lys) c.273T>A (p.Asn91Lys) |