| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284557C>A | CA354160385 | CASR | c.2372C>A (p.Thr791Asn) c.2633C>A (p.Thr878Asn) c.2603C>A (p.Thr868Asn) c.2120C>A (p.Thr707Asn) c.2015C>A (p.Thr672Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284557C>G | CA354160386 | CASR | c.2372C>G (p.Thr791Ser) c.2633C>G (p.Thr878Ser) c.2603C>G (p.Thr868Ser) c.2120C>G (p.Thr707Ser) c.2015C>G (p.Thr672Ser) | |
| 3 | g.122284557C>T | CA354160387 | CASR | c.2372C>T (p.Thr791Ile) c.2633C>T (p.Thr878Ile) c.2603C>T (p.Thr868Ile) c.2120C>T (p.Thr707Ile) c.2015C>T (p.Thr672Ile) | |
| 3 | g.122284558C>A | CA435425364 | CASR | c.2373C>A (p.Thr791=) c.2634C>A (p.Thr878=) c.2604C>A (p.Thr868=) c.2121C>A (p.Thr707=) c.2016C>A (p.Thr672=) | |
| 3 | g.122284558C= | CA1397872615 | CASR | c.2373C= (p.Thr791=) c.2634C= (p.Thr878=) c.2604C= (p.Thr868=) c.2121C= (p.Thr707=) c.2016C= (p.Thr672=) | |
| 3 | g.122284558C>G | CA435425365 | CASR | c.2373C>G (p.Thr791=) c.2634C>G (p.Thr878=) c.2604C>G (p.Thr868=) c.2121C>G (p.Thr707=) c.2016C>G (p.Thr672=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284558C>T | CA82749095 | CASR | c.2373C>T (p.Thr791=) c.2634C>T (p.Thr878=) c.2604C>T (p.Thr868=) c.2121C>T (p.Thr707=) c.2016C>T (p.Thr672=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284559A>C | CA354160388 | CASR | c.2374A>C (p.Ile792Leu) c.2635A>C (p.Ile879Leu) c.2605A>C (p.Ile869Leu) c.2122A>C (p.Ile708Leu) c.2017A>C (p.Ile673Leu) | |
| 3 | g.122284559A>G | CA354160389 | CASR | c.2374A>G (p.Ile792Val) c.2635A>G (p.Ile879Val) c.2605A>G (p.Ile869Val) c.2122A>G (p.Ile708Val) c.2017A>G (p.Ile673Val) | gnomAD v4 |
| 3 | g.122284559A>T | CA354160390 | CASR | c.2374A>T (p.Ile792Phe) c.2635A>T (p.Ile879Phe) c.2605A>T (p.Ile869Phe) c.2122A>T (p.Ile708Phe) c.2017A>T (p.Ile673Phe) | |
| 3 | g.122284560T>A | CA354160393 | CASR | c.2375T>A (p.Ile792Asn) c.2636T>A (p.Ile879Asn) c.2606T>A (p.Ile869Asn) c.2123T>A (p.Ile708Asn) c.2018T>A (p.Ile673Asn) | |
| 3 | g.122284560T>C | CA354160391 | CASR | c.2375T>C (p.Ile792Thr) c.2636T>C (p.Ile879Thr) c.2606T>C (p.Ile869Thr) c.2123T>C (p.Ile708Thr) c.2018T>C (p.Ile673Thr) | |
| 3 | g.122284560T>G | CA354160392 | CASR | c.2375T>G (p.Ile792Ser) c.2636T>G (p.Ile879Ser) c.2606T>G (p.Ile869Ser) c.2123T>G (p.Ile708Ser) c.2018T>G (p.Ile673Ser) | |
| 3 | g.122284561C>A | CA435425366 | CASR | c.2376C>A (p.Ile792=) c.2637C>A (p.Ile879=) c.2607C>A (p.Ile869=) c.2124C>A (p.Ile708=) c.2019C>A (p.Ile673=) | ClinVar |
| 3 | g.122284561C= | CA1397872620 | CASR | c.2376C= (p.Ile792=) c.2637C= (p.Ile879=) c.2607C= (p.Ile869=) c.2124C= (p.Ile708=) c.2019C= (p.Ile673=) | |
| 3 | g.122284561C>G | CA354160394 | CASR | c.2376C>G (p.Ile792Met) c.2637C>G (p.Ile879Met) c.2607C>G (p.Ile869Met) c.2124C>G (p.Ile708Met) c.2019C>G (p.Ile673Met) | |
| 3 | g.122284561C>T | CA435425367 | CASR | c.2376C>T (p.Ile792=) c.2637C>T (p.Ile879=) c.2607C>T (p.Ile869=) c.2124C>T (p.Ile708=) c.2019C>T (p.Ile673=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284562G>A | CA354160395 | CASR | c.2377G>A (p.Glu793Lys) c.2638G>A (p.Glu880Lys) c.2608G>A (p.Glu870Lys) c.2125G>A (p.Glu709Lys) c.2020G>A (p.Glu674Lys) | ClinVar gnomAD v4 COSMIC |
| 3 | g.122284562G>C | CA354160396 | CASR | c.2377G>C (p.Glu793Gln) c.2638G>C (p.Glu880Gln) c.2608G>C (p.Glu870Gln) c.2125G>C (p.Glu709Gln) c.2020G>C (p.Glu674Gln) | gnomAD v4 |
| 3 | g.122284562G>T | CA354160397 | CASR | c.2377G>T (p.Glu793Ter) c.2638G>T (p.Glu880Ter) c.2608G>T (p.Glu870Ter) c.2125G>T (p.Glu709Ter) c.2020G>T (p.Glu674Ter) | |
| 3 | g.122284563A>C | CA354160398 | CASR | c.2378A>C (p.Glu793Ala) c.2639A>C (p.Glu880Ala) c.2609A>C (p.Glu870Ala) c.2126A>C (p.Glu709Ala) c.2021A>C (p.Glu674Ala) | |
| 3 | g.122284563A>G | CA354160399 | CASR | c.2378A>G (p.Glu793Gly) c.2639A>G (p.Glu880Gly) c.2609A>G (p.Glu870Gly) c.2126A>G (p.Glu709Gly) c.2021A>G (p.Glu674Gly) | |
| 3 | g.122284563A>T | CA354160400 | CASR | c.2378A>T (p.Glu793Val) c.2639A>T (p.Glu880Val) c.2609A>T (p.Glu870Val) c.2126A>T (p.Glu709Val) c.2021A>T (p.Glu674Val) | |
| 3 | g.122284564G>A | CA203217 | CASR | c.2379G>A (p.Glu793=) c.2640G>A (p.Glu880=) c.2610G>A (p.Glu870=) c.2127G>A (p.Glu709=) c.2022G>A (p.Glu674=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284564G>C | CA354160401 | CASR | c.2379G>C (p.Glu793Asp) c.2640G>C (p.Glu880Asp) c.2610G>C (p.Glu870Asp) c.2127G>C (p.Glu709Asp) c.2022G>C (p.Glu674Asp) | |
| 3 | g.122284564G= | CA1397872625 | CASR | c.2379G= (p.Glu793=) c.2640G= (p.Glu880=) c.2610G= (p.Glu870=) c.2127G= (p.Glu709=) c.2022G= (p.Glu674=) | |
| 3 | g.122284564G>T | CA354160402 | CASR | c.2379G>T (p.Glu793Asp) c.2640G>T (p.Glu880Asp) c.2610G>T (p.Glu870Asp) c.2127G>T (p.Glu709Asp) c.2022G>T (p.Glu674Asp) | |
| 3 | g.122284565G>A | CA354160403 | CASR | c.2380G>A (p.Glu794Lys) c.2641G>A (p.Glu881Lys) c.2611G>A (p.Glu871Lys) c.2128G>A (p.Glu710Lys) c.2023G>A (p.Glu675Lys) | COSMIC |
| 3 | g.122284565G>C | CA354160404 | CASR | c.2380G>C (p.Glu794Gln) c.2641G>C (p.Glu881Gln) c.2611G>C (p.Glu871Gln) c.2128G>C (p.Glu710Gln) c.2023G>C (p.Glu675Gln) | |
| 3 | g.122284565G= | CA1397872631 | CASR | c.2380G= (p.Glu794=) c.2641G= (p.Glu881=) c.2611G= (p.Glu871=) c.2128G= (p.Glu710=) c.2023G= (p.Glu675=) | |
| 3 | g.122284565G>T | CA16604790 | CASR | c.2380G>T (p.Glu794Ter) c.2641G>T (p.Glu881Ter) c.2611G>T (p.Glu871Ter) c.2128G>T (p.Glu710Ter) c.2023G>T (p.Glu675Ter) | ClinVar dbSNP |
| 3 | g.122284566A>C | CA354160405 | CASR | c.2381A>C (p.Glu794Ala) c.2642A>C (p.Glu881Ala) c.2612A>C (p.Glu871Ala) c.2129A>C (p.Glu710Ala) c.2024A>C (p.Glu675Ala) | |
| 3 | g.122284566A>G | CA354160406 | CASR | c.2381A>G (p.Glu794Gly) c.2642A>G (p.Glu881Gly) c.2612A>G (p.Glu871Gly) c.2129A>G (p.Glu710Gly) c.2024A>G (p.Glu675Gly) | |
| 3 | g.122284566A>T | CA354160407 | CASR | c.2381A>T (p.Glu794Val) c.2642A>T (p.Glu881Val) c.2612A>T (p.Glu871Val) c.2129A>T (p.Glu710Val) c.2024A>T (p.Glu675Val) | |
| 3 | g.122284567G>A | CA435425375 | CASR | c.2382G>A (p.Glu794=) c.2643G>A (p.Glu881=) c.2613G>A (p.Glu871=) c.2130G>A (p.Glu710=) c.2025G>A (p.Glu675=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284567G>C | CA354160408 | CASR | c.2382G>C (p.Glu794Asp) c.2643G>C (p.Glu881Asp) c.2613G>C (p.Glu871Asp) c.2130G>C (p.Glu710Asp) c.2025G>C (p.Glu675Asp) | dbSNP |
| 3 | g.122284567G= | CA1397872637 | CASR | c.2382G= (p.Glu794=) c.2643G= (p.Glu881=) c.2613G= (p.Glu871=) c.2130G= (p.Glu710=) c.2025G= (p.Glu675=) | |
| 3 | g.122284567G>T | CA354160409 | CASR | c.2382G>T (p.Glu794Asp) c.2643G>T (p.Glu881Asp) c.2613G>T (p.Glu871Asp) c.2130G>T (p.Glu710Asp) c.2025G>T (p.Glu675Asp) | |
| 3 | g.122284568G>A | CA354160410 | CASR | c.2383G>A (p.Val795Met) c.2644G>A (p.Val882Met) c.2614G>A (p.Val872Met) c.2131G>A (p.Val711Met) c.2026G>A (p.Val676Met) | ClinVar |
| 3 | g.122284568G>C | CA354160411 | CASR | c.2383G>C (p.Val795Leu) c.2644G>C (p.Val882Leu) c.2614G>C (p.Val872Leu) c.2131G>C (p.Val711Leu) c.2026G>C (p.Val676Leu) | |
| 3 | g.122284568G>T | CA354160412 | CASR | c.2383G>T (p.Val795Leu) c.2644G>T (p.Val882Leu) c.2614G>T (p.Val872Leu) c.2131G>T (p.Val711Leu) c.2026G>T (p.Val676Leu) | |
| 3 | g.122284569T>A | CA354160413 | CASR | c.2384T>A (p.Val795Glu) c.2645T>A (p.Val882Glu) c.2615T>A (p.Val872Glu) c.2132T>A (p.Val711Glu) c.2027T>A (p.Val676Glu) | |
| 3 | g.122284569T>C | CA354160414 | CASR | c.2384T>C (p.Val795Ala) c.2645T>C (p.Val882Ala) c.2615T>C (p.Val872Ala) c.2132T>C (p.Val711Ala) c.2027T>C (p.Val676Ala) | gnomAD v4 |
| 3 | g.122284569T>G | CA354160415 | CASR | c.2384T>G (p.Val795Gly) c.2645T>G (p.Val882Gly) c.2615T>G (p.Val872Gly) c.2132T>G (p.Val711Gly) c.2027T>G (p.Val676Gly) | |
| 3 | g.122284570G>A | CA435425377 | CASR | c.2385G>A (p.Val795=) c.2646G>A (p.Val882=) c.2616G>A (p.Val872=) c.2133G>A (p.Val711=) c.2028G>A (p.Val676=) | gnomAD v4 |
| 3 | g.122284570G>C | CA435425378 | CASR | c.2385G>C (p.Val795=) c.2646G>C (p.Val882=) c.2616G>C (p.Val872=) c.2133G>C (p.Val711=) c.2028G>C (p.Val676=) | ClinVar |
| 3 | g.122284570G>T | CA435425379 | CASR | c.2385G>T (p.Val795=) c.2646G>T (p.Val882=) c.2616G>T (p.Val872=) c.2133G>T (p.Val711=) c.2028G>T (p.Val676=) | |
| 3 | g.122284571C>A | CA354160417 | CASR | c.2386C>A (p.Arg796Ser) c.2647C>A (p.Arg883Ser) c.2617C>A (p.Arg873Ser) c.2134C>A (p.Arg712Ser) c.2029C>A (p.Arg677Ser) | |
| 3 | g.122284571C= | CA1397872641 | CASR | c.2386C= (p.Arg796=) c.2647C= (p.Arg883=) c.2617C= (p.Arg873=) c.2134C= (p.Arg712=) c.2029C= (p.Arg677=) | |
| 3 | g.122284571C>G | CA354160418 | CASR | c.2386C>G (p.Arg796Gly) c.2647C>G (p.Arg883Gly) c.2617C>G (p.Arg873Gly) c.2134C>G (p.Arg712Gly) c.2029C>G (p.Arg677Gly) | |
| 3 | g.122284571C>T | CA354160416 | CASR | c.2386C>T (p.Arg796Cys) c.2647C>T (p.Arg883Cys) c.2617C>T (p.Arg873Cys) c.2134C>T (p.Arg712Cys) c.2029C>T (p.Arg677Cys) | ClinVar dbSNP COSMIC |
| 3 | g.122284572G>A | CA354160419 | CASR | c.2387G>A (p.Arg796His) c.2648G>A (p.Arg883His) c.2618G>A (p.Arg873His) c.2135G>A (p.Arg712His) c.2030G>A (p.Arg677His) | ClinVar gnomAD v4 COSMIC |
| 3 | g.122284572G>C | CA354160420 | CASR | c.2387G>C (p.Arg796Pro) c.2648G>C (p.Arg883Pro) c.2618G>C (p.Arg873Pro) c.2135G>C (p.Arg712Pro) c.2030G>C (p.Arg677Pro) | ClinVar dbSNP |
| 3 | g.122284572G>T | CA354160421 | CASR | c.2387G>T (p.Arg796Leu) c.2648G>T (p.Arg883Leu) c.2618G>T (p.Arg873Leu) c.2135G>T (p.Arg712Leu) c.2030G>T (p.Arg677Leu) | |
| 3 | g.122284573T>A | CA435425385 | CASR | c.2388T>A (p.Arg796=) c.2649T>A (p.Arg883=) c.2619T>A (p.Arg873=) c.2136T>A (p.Arg712=) c.2031T>A (p.Arg677=) | |
| 3 | g.122284573T>C | CA435425384 | CASR | c.2388T>C (p.Arg796=) c.2649T>C (p.Arg883=) c.2619T>C (p.Arg873=) c.2136T>C (p.Arg712=) c.2031T>C (p.Arg677=) | |
| 3 | g.122284573T>G | CA435425383 | CASR | c.2388T>G (p.Arg796=) c.2649T>G (p.Arg883=) c.2619T>G (p.Arg873=) c.2136T>G (p.Arg712=) c.2031T>G (p.Arg677=) | |
| 3 | g.122284574T>A | CA354160422 | CASR | c.2389T>A (p.Cys797Ser) c.2650T>A (p.Cys884Ser) c.2620T>A (p.Cys874Ser) c.2137T>A (p.Cys713Ser) c.2032T>A (p.Cys678Ser) | |
| 3 | g.122284574T>C | CA354160423 | CASR | c.2389T>C (p.Cys797Arg) c.2650T>C (p.Cys884Arg) c.2620T>C (p.Cys874Arg) c.2137T>C (p.Cys713Arg) c.2032T>C (p.Cys678Arg) | |
| 3 | g.122284574T>G | CA354160424 | CASR | c.2389T>G (p.Cys797Gly) c.2650T>G (p.Cys884Gly) c.2620T>G (p.Cys874Gly) c.2137T>G (p.Cys713Gly) c.2032T>G (p.Cys678Gly) | dbSNP |
| 3 | g.122284574T= | CA1397872648 | CASR | c.2389T= (p.Cys797=) c.2650T= (p.Cys884=) c.2620T= (p.Cys874=) c.2137T= (p.Cys713=) c.2032T= (p.Cys678=) | |
| 3 | g.122284575G>A | CA354160425 | CASR | c.2390G>A (p.Cys797Tyr) c.2651G>A (p.Cys884Tyr) c.2621G>A (p.Cys874Tyr) c.2138G>A (p.Cys713Tyr) c.2033G>A (p.Cys678Tyr) | |
| 3 | g.122284575G>C | CA354160427 | CASR | c.2390G>C (p.Cys797Ser) c.2651G>C (p.Cys884Ser) c.2621G>C (p.Cys874Ser) c.2138G>C (p.Cys713Ser) c.2033G>C (p.Cys678Ser) | |
| 3 | g.122284575G>T | CA354160426 | CASR | c.2390G>T (p.Cys797Phe) c.2651G>T (p.Cys884Phe) c.2621G>T (p.Cys874Phe) c.2138G>T (p.Cys713Phe) c.2033G>T (p.Cys678Phe) | |
| 3 | g.122284580_122284587del | CA2580068664 | CASR | c.2395_2402del (p.Thr799SerfsTer?) c.2656_2663del (p.Thr886SerfsTer?) c.2626_2633del (p.Thr876SerfsTer?) c.2143_2150del (p.Thr715SerfsTer?) c.2038_2045del (p.Thr680SerfsTer?) | ClinVar |
| 3 | g.122284576C>A | CA354160428 | CASR | c.2391C>A (p.Cys797Ter) c.2652C>A (p.Cys884Ter) c.2622C>A (p.Cys874Ter) c.2139C>A (p.Cys713Ter) c.2034C>A (p.Cys678Ter) | |
| 3 | g.122284576C>G | CA354160429 | CASR | c.2391C>G (p.Cys797Trp) c.2652C>G (p.Cys884Trp) c.2622C>G (p.Cys874Trp) c.2139C>G (p.Cys713Trp) c.2034C>G (p.Cys678Trp) | |
| 3 | g.122284576C>T | CA435425388 | CASR | c.2391C>T (p.Cys797=) c.2652C>T (p.Cys884=) c.2622C>T (p.Cys874=) c.2139C>T (p.Cys713=) c.2034C>T (p.Cys678=) | |
| 3 | g.122284577A>C | CA354160430 | CASR | c.2392A>C (p.Ser798Arg) c.2653A>C (p.Ser885Arg) c.2623A>C (p.Ser875Arg) c.2140A>C (p.Ser714Arg) c.2035A>C (p.Ser679Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284577A>G | CA354160431 | CASR | c.2392A>G (p.Ser798Gly) c.2653A>G (p.Ser885Gly) c.2623A>G (p.Ser875Gly) c.2140A>G (p.Ser714Gly) c.2035A>G (p.Ser679Gly) | |
| 3 | g.122284577A>T | CA354160432 | CASR | c.2392A>T (p.Ser798Cys) c.2653A>T (p.Ser885Cys) c.2623A>T (p.Ser875Cys) c.2140A>T (p.Ser714Cys) c.2035A>T (p.Ser679Cys) | |
| 3 | g.122284578del | CA2667224703 | CASR | c.2393del (p.Ser798ThrfsTer?) c.2654del (p.Ser885ThrfsTer?) c.2624del (p.Ser875ThrfsTer?) c.2141del (p.Ser714ThrfsTer?) c.2036del (p.Ser679ThrfsTer?) | gnomAD v4 |
| 3 | g.122284578G>A | CA354160434 | CASR | c.2393G>A (p.Ser798Asn) c.2654G>A (p.Ser885Asn) c.2624G>A (p.Ser875Asn) c.2141G>A (p.Ser714Asn) c.2036G>A (p.Ser679Asn) | |
| 3 | g.122284578G>C | CA354160435 | CASR | c.2393G>C (p.Ser798Thr) c.2654G>C (p.Ser885Thr) c.2624G>C (p.Ser875Thr) c.2141G>C (p.Ser714Thr) c.2036G>C (p.Ser679Thr) | |
| 3 | g.122284578G>T | CA354160433 | CASR | c.2393G>T (p.Ser798Ile) c.2654G>T (p.Ser885Ile) c.2624G>T (p.Ser875Ile) c.2141G>T (p.Ser714Ile) c.2036G>T (p.Ser679Ile) | |
| 3 | g.122284579C>A | CA354160437 | CASR | c.2394C>A (p.Ser798Arg) c.2655C>A (p.Ser885Arg) c.2625C>A (p.Ser875Arg) c.2142C>A (p.Ser714Arg) c.2037C>A (p.Ser679Arg) | |
| 3 | g.122284579C= | CA1397872651 | CASR | c.2394C= (p.Ser798=) c.2655C= (p.Ser885=) c.2625C= (p.Ser875=) c.2142C= (p.Ser714=) c.2037C= (p.Ser679=) | |
| 3 | g.122284579C>G | CA354160436 | CASR | c.2394C>G (p.Ser798Arg) c.2655C>G (p.Ser885Arg) c.2625C>G (p.Ser875Arg) c.2142C>G (p.Ser714Arg) c.2037C>G (p.Ser679Arg) | |
| 3 | g.122284579C>T | CA435425392 | CASR | c.2394C>T (p.Ser798=) c.2655C>T (p.Ser885=) c.2625C>T (p.Ser875=) c.2142C>T (p.Ser714=) c.2037C>T (p.Ser679=) | ClinVar dbSNP |
| 3 | g.122284580A= | CA1397872654 | CASR | c.2395A= (p.Thr799=) c.2656A= (p.Thr886=) c.2626A= (p.Thr876=) c.2143A= (p.Thr715=) c.2038A= (p.Thr680=) | |
| 3 | g.122284580A>C | CA354160440 | CASR | c.2395A>C (p.Thr799Pro) c.2656A>C (p.Thr886Pro) c.2626A>C (p.Thr876Pro) c.2143A>C (p.Thr715Pro) c.2038A>C (p.Thr680Pro) | dbSNP |
| 3 | g.122284580A>G | CA354160438 | CASR | c.2395A>G (p.Thr799Ala) c.2656A>G (p.Thr886Ala) c.2626A>G (p.Thr876Ala) c.2143A>G (p.Thr715Ala) c.2038A>G (p.Thr680Ala) | |
| 3 | g.122284580A>T | CA354160439 | CASR | c.2395A>T (p.Thr799Ser) c.2656A>T (p.Thr886Ser) c.2626A>T (p.Thr876Ser) c.2143A>T (p.Thr715Ser) c.2038A>T (p.Thr680Ser) | |
| 3 | g.122284581C>A | CA354160441 | CASR | c.2396C>A (p.Thr799Asn) c.2657C>A (p.Thr886Asn) c.2627C>A (p.Thr876Asn) c.2144C>A (p.Thr715Asn) c.2039C>A (p.Thr680Asn) | ClinVar |
| 3 | g.122284581C= | CA1397872658 | CASR | c.2396C= (p.Thr799=) c.2657C= (p.Thr886=) c.2627C= (p.Thr876=) c.2144C= (p.Thr715=) c.2039C= (p.Thr680=) | |
| 3 | g.122284581C>G | CA354160442 | CASR | c.2396C>G (p.Thr799Ser) c.2657C>G (p.Thr886Ser) c.2627C>G (p.Thr876Ser) c.2144C>G (p.Thr715Ser) c.2039C>G (p.Thr680Ser) | |
| 3 | g.122284581C>T | CA354160443 | CASR | c.2396C>T (p.Thr799Ile) c.2657C>T (p.Thr886Ile) c.2627C>T (p.Thr876Ile) c.2144C>T (p.Thr715Ile) c.2039C>T (p.Thr680Ile) | ClinVar dbSNP |
| 3 | g.122284582C>A | CA435425394 | CASR | c.2397C>A (p.Thr799=) c.2658C>A (p.Thr886=) c.2628C>A (p.Thr876=) c.2145C>A (p.Thr715=) c.2040C>A (p.Thr680=) | ClinVar gnomAD v4 |
| 3 | g.122284582C= | CA1397872666 | CASR | c.2397C= (p.Thr799=) c.2658C= (p.Thr886=) c.2628C= (p.Thr876=) c.2145C= (p.Thr715=) c.2040C= (p.Thr680=) | |
| 3 | g.122284582C>G | CA2569838 | CASR | c.2397C>G (p.Thr799=) c.2658C>G (p.Thr886=) c.2628C>G (p.Thr876=) c.2145C>G (p.Thr715=) c.2040C>G (p.Thr680=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284582C>T | CA435425395 | CASR | c.2397C>T (p.Thr799=) c.2658C>T (p.Thr886=) c.2628C>T (p.Thr876=) c.2145C>T (p.Thr715=) c.2040C>T (p.Thr680=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284583G>A | CA354160444 | CASR | c.2398G>A (p.Ala800Thr) c.2659G>A (p.Ala887Thr) c.2629G>A (p.Ala877Thr) c.2146G>A (p.Ala716Thr) c.2041G>A (p.Ala681Thr) | ClinVar dbSNP |
| 3 | g.122284583G>C | CA354160445 | CASR | c.2398G>C (p.Ala800Pro) c.2659G>C (p.Ala887Pro) c.2629G>C (p.Ala877Pro) c.2146G>C (p.Ala716Pro) c.2041G>C (p.Ala681Pro) | |
| 3 | g.122284583G>T | CA354160446 | CASR | c.2398G>T (p.Ala800Ser) c.2659G>T (p.Ala887Ser) c.2629G>T (p.Ala877Ser) c.2146G>T (p.Ala716Ser) c.2041G>T (p.Ala681Ser) | |
| 3 | g.122284584C>A | CA354160447 | CASR | c.2399C>A (p.Ala800Glu) c.2660C>A (p.Ala887Glu) c.2630C>A (p.Ala877Glu) c.2147C>A (p.Ala716Glu) c.2042C>A (p.Ala681Glu) | |
| 3 | g.122284584C>G | CA354160448 | CASR | c.2399C>G (p.Ala800Gly) c.2660C>G (p.Ala887Gly) c.2630C>G (p.Ala877Gly) c.2147C>G (p.Ala716Gly) c.2042C>G (p.Ala681Gly) | |
| 3 | g.122284584C>T | CA354160449 | CASR | c.2399C>T (p.Ala800Val) c.2660C>T (p.Ala887Val) c.2630C>T (p.Ala877Val) c.2147C>T (p.Ala716Val) c.2042C>T (p.Ala681Val) | |
| 3 | g.122284585A>C | CA435425397 | CASR | c.2400A>C (p.Ala800=) c.2661A>C (p.Ala887=) c.2631A>C (p.Ala877=) c.2148A>C (p.Ala716=) c.2043A>C (p.Ala681=) | ClinVar |
| 3 | g.122284585A>G | CA435425398 | CASR | c.2400A>G (p.Ala800=) c.2661A>G (p.Ala887=) c.2631A>G (p.Ala877=) c.2148A>G (p.Ala716=) c.2043A>G (p.Ala681=) | |
| 3 | g.122284585A>T | CA435425399 | CASR | c.2400A>T (p.Ala800=) c.2661A>T (p.Ala887=) c.2631A>T (p.Ala877=) c.2148A>T (p.Ala716=) c.2043A>T (p.Ala681=) | |
| 3 | g.122284586G>A | CA354160452 | CASR | c.2401G>A (p.Ala801Thr) c.2662G>A (p.Ala888Thr) c.2632G>A (p.Ala878Thr) c.2149G>A (p.Ala717Thr) c.2044G>A (p.Ala682Thr) | |
| 3 | g.122284586G>C | CA354160450 | CASR | c.2401G>C (p.Ala801Pro) c.2662G>C (p.Ala888Pro) c.2632G>C (p.Ala878Pro) c.2149G>C (p.Ala717Pro) c.2044G>C (p.Ala682Pro) | |
| 3 | g.122284586G>T | CA354160451 | CASR | c.2401G>T (p.Ala801Ser) c.2662G>T (p.Ala888Ser) c.2632G>T (p.Ala878Ser) c.2149G>T (p.Ala717Ser) c.2044G>T (p.Ala682Ser) | |
| 3 | g.122284587C>A | CA354160453 | CASR | c.2402C>A (p.Ala801Asp) c.2663C>A (p.Ala888Asp) c.2633C>A (p.Ala878Asp) c.2150C>A (p.Ala717Asp) c.2045C>A (p.Ala682Asp) | |
| 3 | g.122284587C>G | CA354160454 | CASR | c.2402C>G (p.Ala801Gly) c.2663C>G (p.Ala888Gly) c.2633C>G (p.Ala878Gly) c.2150C>G (p.Ala717Gly) c.2045C>G (p.Ala682Gly) | gnomAD v4 |
| 3 | g.122284587C>T | CA354160455 | CASR | c.2402C>T (p.Ala801Val) c.2663C>T (p.Ala888Val) c.2633C>T (p.Ala878Val) c.2150C>T (p.Ala717Val) c.2045C>T (p.Ala682Val) | |
| 3 | g.122284588T>A | CA435425404 | CASR | c.2403T>A (p.Ala801=) c.2664T>A (p.Ala888=) c.2634T>A (p.Ala878=) c.2151T>A (p.Ala717=) c.2046T>A (p.Ala682=) | ClinVar dbSNP |
| 3 | g.122284588T>C | CA435425403 | CASR | c.2403T>C (p.Ala801=) c.2664T>C (p.Ala888=) c.2634T>C (p.Ala878=) c.2151T>C (p.Ala717=) c.2046T>C (p.Ala682=) | |
| 3 | g.122284588T>G | CA435425401 | CASR | c.2403T>G (p.Ala801=) c.2664T>G (p.Ala888=) c.2634T>G (p.Ala878=) c.2151T>G (p.Ala717=) c.2046T>G (p.Ala682=) | |
| 3 | g.122284588T= | CA1397872669 | CASR | c.2403T= (p.Ala801=) c.2664T= (p.Ala888=) c.2634T= (p.Ala878=) c.2151T= (p.Ala717=) c.2046T= (p.Ala682=) | |
| 3 | g.122284589C>A | CA354160456 | CASR | c.2404C>A (p.His802Asn) c.2665C>A (p.His889Asn) c.2635C>A (p.His879Asn) c.2152C>A (p.His718Asn) c.2047C>A (p.His683Asn) | |
| 3 | g.122284589C= | CA1397872674 | CASR | c.2404C= (p.His802=) c.2665C= (p.His889=) c.2635C= (p.His879=) c.2152C= (p.His718=) c.2047C= (p.His683=) | |
| 3 | g.122284589C>G | CA354160457 | CASR | c.2404C>G (p.His802Asp) c.2665C>G (p.His889Asp) c.2635C>G (p.His879Asp) c.2152C>G (p.His718Asp) c.2047C>G (p.His683Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284589C>T | CA354160458 | CASR | c.2404C>T (p.His802Tyr) c.2665C>T (p.His889Tyr) c.2635C>T (p.His879Tyr) c.2152C>T (p.His718Tyr) c.2047C>T (p.His683Tyr) | COSMIC |
| 3 | g.122284590A>C | CA354160459 | CASR | c.2405A>C (p.His802Pro) c.2666A>C (p.His889Pro) c.2636A>C (p.His879Pro) c.2153A>C (p.His718Pro) c.2048A>C (p.His683Pro) | |
| 3 | g.122284590A>G | CA354160460 | CASR | c.2405A>G (p.His802Arg) c.2666A>G (p.His889Arg) c.2636A>G (p.His879Arg) c.2153A>G (p.His718Arg) c.2048A>G (p.His683Arg) | |
| 3 | g.122284590A>T | CA354160461 | CASR | c.2405A>T (p.His802Leu) c.2666A>T (p.His889Leu) c.2636A>T (p.His879Leu) c.2153A>T (p.His718Leu) c.2048A>T (p.His683Leu) | |
| 3 | g.122284591C>A | CA354160462 | CASR | c.2406C>A (p.His802Gln) c.2667C>A (p.His889Gln) c.2637C>A (p.His879Gln) c.2154C>A (p.His718Gln) c.2049C>A (p.His683Gln) | ClinVar dbSNP |
| 3 | g.122284591C= | CA1397872678 | CASR | c.2406C= (p.His802=) c.2667C= (p.His889=) c.2637C= (p.His879=) c.2154C= (p.His718=) c.2049C= (p.His683=) | |
| 3 | g.122284591C>G | CA354160463 | CASR | c.2406C>G (p.His802Gln) c.2667C>G (p.His889Gln) c.2637C>G (p.His879Gln) c.2154C>G (p.His718Gln) c.2049C>G (p.His683Gln) | ClinVar dbSNP |
| 3 | g.122284591C>T | CA435425406 | CASR | c.2406C>T (p.His802=) c.2667C>T (p.His889=) c.2637C>T (p.His879=) c.2154C>T (p.His718=) c.2049C>T (p.His683=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284592G>A | CA82749105 | CASR | c.2407G>A (p.Ala803Thr) c.2668G>A (p.Ala890Thr) c.2638G>A (p.Ala880Thr) c.2155G>A (p.Ala719Thr) c.2050G>A (p.Ala684Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284592G>C | CA354160464 | CASR | c.2407G>C (p.Ala803Pro) c.2668G>C (p.Ala890Pro) c.2638G>C (p.Ala880Pro) c.2155G>C (p.Ala719Pro) c.2050G>C (p.Ala684Pro) | ClinVar dbSNP |
| 3 | g.122284592G= | CA1397872688 | CASR | c.2407G= (p.Ala803=) c.2668G= (p.Ala890=) c.2638G= (p.Ala880=) c.2155G= (p.Ala719=) c.2050G= (p.Ala684=) | |
| 3 | g.122284592G>T | CA2569839 | CASR | c.2407G>T (p.Ala803Ser) c.2668G>T (p.Ala890Ser) c.2638G>T (p.Ala880Ser) c.2155G>T (p.Ala719Ser) c.2050G>T (p.Ala684Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284593C>A | CA354160465 | CASR | c.2408C>A (p.Ala803Asp) c.2669C>A (p.Ala890Asp) c.2639C>A (p.Ala880Asp) c.2156C>A (p.Ala719Asp) c.2051C>A (p.Ala684Asp) | |
| 3 | g.122284593C>G | CA354160466 | CASR | c.2408C>G (p.Ala803Gly) c.2669C>G (p.Ala890Gly) c.2639C>G (p.Ala880Gly) c.2156C>G (p.Ala719Gly) c.2051C>G (p.Ala684Gly) | ClinVar |
| 3 | g.122284593C>T | CA354160467 | CASR | c.2408C>T (p.Ala803Val) c.2669C>T (p.Ala890Val) c.2639C>T (p.Ala880Val) c.2156C>T (p.Ala719Val) c.2051C>T (p.Ala684Val) | ClinVar |
| 3 | g.122284594T>A | CA435425407 | CASR | c.2409T>A (p.Ala803=) c.2670T>A (p.Ala890=) c.2640T>A (p.Ala880=) c.2157T>A (p.Ala719=) c.2052T>A (p.Ala684=) | |
| 3 | g.122284594T>C | CA435425409 | CASR | c.2409T>C (p.Ala803=) c.2670T>C (p.Ala890=) c.2640T>C (p.Ala880=) c.2157T>C (p.Ala719=) c.2052T>C (p.Ala684=) | |
| 3 | g.122284594T>G | CA435425410 | CASR | c.2409T>G (p.Ala803=) c.2670T>G (p.Ala890=) c.2640T>G (p.Ala880=) c.2157T>G (p.Ala719=) c.2052T>G (p.Ala684=) | |
| 3 | g.122284595T>A | CA354160468 | CASR | c.2410T>A (p.Phe804Ile) c.2671T>A (p.Phe891Ile) c.2641T>A (p.Phe881Ile) c.2158T>A (p.Phe720Ile) c.2053T>A (p.Phe685Ile) | |
| 3 | g.122284595T>C | CA119515 | CASR | c.2410T>C (p.Phe804Leu) c.2671T>C (p.Phe891Leu) c.2641T>C (p.Phe881Leu) c.2158T>C (p.Phe720Leu) c.2053T>C (p.Phe685Leu) | ClinVar dbSNP |
| 3 | g.122284595T>G | CA354160469 | CASR | c.2410T>G (p.Phe804Val) c.2671T>G (p.Phe891Val) c.2641T>G (p.Phe881Val) c.2158T>G (p.Phe720Val) c.2053T>G (p.Phe685Val) | |
| 3 | g.122284595T= | CA1397872698 | CASR | c.2410T= (p.Phe804=) c.2671T= (p.Phe891=) c.2641T= (p.Phe881=) c.2158T= (p.Phe720=) c.2053T= (p.Phe685=) | |
| 3 | g.122284596T>A | CA354160472 | CASR | c.2411T>A (p.Phe804Tyr) c.2672T>A (p.Phe891Tyr) c.2642T>A (p.Phe881Tyr) c.2159T>A (p.Phe720Tyr) c.2054T>A (p.Phe685Tyr) | |
| 3 | g.122284596T>C | CA354160470 | CASR | c.2411T>C (p.Phe804Ser) c.2672T>C (p.Phe891Ser) c.2642T>C (p.Phe881Ser) c.2159T>C (p.Phe720Ser) c.2054T>C (p.Phe685Ser) | |
| 3 | g.122284596T>G | CA354160471 | CASR | c.2411T>G (p.Phe804Cys) c.2672T>G (p.Phe891Cys) c.2642T>G (p.Phe881Cys) c.2159T>G (p.Phe720Cys) c.2054T>G (p.Phe685Cys) | |
| 3 | g.122284597C>A | CA354160473 | CASR | c.2412C>A (p.Phe804Leu) c.2673C>A (p.Phe891Leu) c.2643C>A (p.Phe881Leu) c.2160C>A (p.Phe720Leu) c.2055C>A (p.Phe685Leu) | |
| 3 | g.122284597C>G | CA354160474 | CASR | c.2412C>G (p.Phe804Leu) c.2673C>G (p.Phe891Leu) c.2643C>G (p.Phe881Leu) c.2160C>G (p.Phe720Leu) c.2055C>G (p.Phe685Leu) | |
| 3 | g.122284597C>T | CA435425412 | CASR | c.2412C>T (p.Phe804=) c.2673C>T (p.Phe891=) c.2643C>T (p.Phe881=) c.2160C>T (p.Phe720=) c.2055C>T (p.Phe685=) | COSMIC |
| 3 | g.122284598A= | CA1397872701 | CASR | c.2413A= (p.Lys805=) c.2674A= (p.Lys892=) c.2644A= (p.Lys882=) c.2161A= (p.Lys721=) c.2056A= (p.Lys686=) | |
| 3 | g.122284598A>C | CA354160475 | CASR | c.2413A>C (p.Lys805Gln) c.2674A>C (p.Lys892Gln) c.2644A>C (p.Lys882Gln) c.2161A>C (p.Lys721Gln) c.2056A>C (p.Lys686Gln) | |
| 3 | g.122284598A>G | CA354160476 | CASR | c.2413A>G (p.Lys805Glu) c.2674A>G (p.Lys892Glu) c.2644A>G (p.Lys882Glu) c.2161A>G (p.Lys721Glu) c.2056A>G (p.Lys686Glu) | ClinVar |
| 3 | g.122284598A>T | CA213590 | CASR | c.2413A>T (p.Lys805Ter) c.2674A>T (p.Lys892Ter) c.2644A>T (p.Lys882Ter) c.2161A>T (p.Lys721Ter) c.2056A>T (p.Lys686Ter) | ClinVar dbSNP |
| 3 | g.122284599A= | CA1397872708 | CASR | c.2414A= (p.Lys805=) c.2675A= (p.Lys892=) c.2645A= (p.Lys882=) c.2162A= (p.Lys721=) c.2057A= (p.Lys686=) | |
| 3 | g.122284599A>C | CA354160477 | CASR | c.2414A>C (p.Lys805Thr) c.2675A>C (p.Lys892Thr) c.2645A>C (p.Lys882Thr) c.2162A>C (p.Lys721Thr) c.2057A>C (p.Lys686Thr) | |
| 3 | g.122284599A>G | CA354160479 | CASR | c.2414A>G (p.Lys805Arg) c.2675A>G (p.Lys892Arg) c.2645A>G (p.Lys882Arg) c.2162A>G (p.Lys721Arg) c.2057A>G (p.Lys686Arg) | ClinVar dbSNP |
| 3 | g.122284599A>T | CA354160478 | CASR | c.2414A>T (p.Lys805Met) c.2675A>T (p.Lys892Met) c.2645A>T (p.Lys882Met) c.2162A>T (p.Lys721Met) c.2057A>T (p.Lys686Met) | |
| 3 | g.122284600G>A | CA435425414 | CASR | c.2415G>A (p.Lys805=) c.2676G>A (p.Lys892=) c.2646G>A (p.Lys882=) c.2163G>A (p.Lys721=) c.2058G>A (p.Lys686=) | |
| 3 | g.122284600G>C | CA354160480 | CASR | c.2415G>C (p.Lys805Asn) c.2676G>C (p.Lys892Asn) c.2646G>C (p.Lys882Asn) c.2163G>C (p.Lys721Asn) c.2058G>C (p.Lys686Asn) | |
| 3 | g.122284600G= | CA1397872711 | CASR | c.2415G= (p.Lys805=) c.2676G= (p.Lys892=) c.2646G= (p.Lys882=) c.2163G= (p.Lys721=) c.2058G= (p.Lys686=) | |
| 3 | g.122284600G>T | CA354160481 | CASR | c.2415G>T (p.Lys805Asn) c.2676G>T (p.Lys892Asn) c.2646G>T (p.Lys882Asn) c.2163G>T (p.Lys721Asn) c.2058G>T (p.Lys686Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284601G>A | CA354160482 | CASR | c.2416G>A (p.Val806Met) c.2677G>A (p.Val893Met) c.2647G>A (p.Val883Met) c.2164G>A (p.Val722Met) c.2059G>A (p.Val687Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284601G>C | CA354160483 | CASR | c.2416G>C (p.Val806Leu) c.2677G>C (p.Val893Leu) c.2647G>C (p.Val883Leu) c.2164G>C (p.Val722Leu) c.2059G>C (p.Val687Leu) | |
| 3 | g.122284601G= | CA1397872713 | CASR | c.2416G= (p.Val806=) c.2677G= (p.Val893=) c.2647G= (p.Val883=) c.2164G= (p.Val722=) c.2059G= (p.Val687=) | |
| 3 | g.122284601G>T | CA354160484 | CASR | c.2416G>T (p.Val806Leu) c.2677G>T (p.Val893Leu) c.2647G>T (p.Val883Leu) c.2164G>T (p.Val722Leu) c.2059G>T (p.Val687Leu) | |
| 3 | g.122284602T>A | CA354160485 | CASR | c.2417T>A (p.Val806Glu) c.2678T>A (p.Val893Glu) c.2648T>A (p.Val883Glu) c.2165T>A (p.Val722Glu) c.2060T>A (p.Val687Glu) | |
| 3 | g.122284602T>C | CA354160486 | CASR | c.2417T>C (p.Val806Ala) c.2678T>C (p.Val893Ala) c.2648T>C (p.Val883Ala) c.2165T>C (p.Val722Ala) c.2060T>C (p.Val687Ala) | |
| 3 | g.122284602T>G | CA354160487 | CASR | c.2417T>G (p.Val806Gly) c.2678T>G (p.Val893Gly) c.2648T>G (p.Val883Gly) c.2165T>G (p.Val722Gly) c.2060T>G (p.Val687Gly) | dbSNP |
| 3 | g.122284602T= | CA1397872715 | CASR | c.2417T= (p.Val806=) c.2678T= (p.Val893=) c.2648T= (p.Val883=) c.2165T= (p.Val722=) c.2060T= (p.Val687=) | |
| 3 | g.122284604_122284607dup | CA2667224704 | CASR | c.2419_2422dup (p.Ala808GlyfsTer?) c.2680_2683dup (p.Ala895GlyfsTer?) c.2650_2653dup (p.Ala885GlyfsTer?) c.2167_2170dup (p.Ala724GlyfsTer?) c.2062_2065dup (p.Ala689GlyfsTer?) | gnomAD v4 |
| 3 | g.122284603G>A | CA435425416 | CASR | c.2418G>A (p.Val806=) c.2679G>A (p.Val893=) c.2649G>A (p.Val883=) c.2166G>A (p.Val722=) c.2061G>A (p.Val687=) | |
| 3 | g.122284603G>C | CA435425417 | CASR | c.2418G>C (p.Val806=) c.2679G>C (p.Val893=) c.2649G>C (p.Val883=) c.2166G>C (p.Val722=) c.2061G>C (p.Val687=) | |
| 3 | g.122284603G>T | CA435425418 | CASR | c.2418G>T (p.Val806=) c.2679G>T (p.Val893=) c.2649G>T (p.Val883=) c.2166G>T (p.Val722=) c.2061G>T (p.Val687=) | |
| 3 | g.122284604G>A | CA354160488 | CASR | c.2419G>A (p.Ala807Thr) c.2680G>A (p.Ala894Thr) c.2650G>A (p.Ala884Thr) c.2167G>A (p.Ala723Thr) c.2062G>A (p.Ala688Thr) | |
| 3 | g.122284604G>C | CA354160489 | CASR | c.2419G>C (p.Ala807Pro) c.2680G>C (p.Ala894Pro) c.2650G>C (p.Ala884Pro) c.2167G>C (p.Ala723Pro) c.2062G>C (p.Ala688Pro) | |
| 3 | g.122284604G>T | CA354160490 | CASR | c.2419G>T (p.Ala807Ser) c.2680G>T (p.Ala894Ser) c.2650G>T (p.Ala884Ser) c.2167G>T (p.Ala723Ser) c.2062G>T (p.Ala688Ser) | ClinVar COSMIC |
| 3 | g.122284605del | CA2580068665 | CASR | c.2420del (p.Ala807ValfsTer?) c.2681del (p.Ala894ValfsTer?) c.2651del (p.Ala884ValfsTer?) c.2168del (p.Ala723ValfsTer?) c.2063del (p.Ala688ValfsTer?) | ClinVar |
| 3 | g.122284605C>A | CA354160493 | CASR | c.2420C>A (p.Ala807Asp) c.2681C>A (p.Ala894Asp) c.2651C>A (p.Ala884Asp) c.2168C>A (p.Ala723Asp) c.2063C>A (p.Ala688Asp) | |
| 3 | g.122284605C>G | CA354160492 | CASR | c.2420C>G (p.Ala807Gly) c.2681C>G (p.Ala894Gly) c.2651C>G (p.Ala884Gly) c.2168C>G (p.Ala723Gly) c.2063C>G (p.Ala688Gly) | |
| 3 | g.122284605C>T | CA354160491 | CASR | c.2420C>T (p.Ala807Val) c.2681C>T (p.Ala894Val) c.2651C>T (p.Ala884Val) c.2168C>T (p.Ala723Val) c.2063C>T (p.Ala688Val) | COSMIC |
| 3 | g.122284606T>A | CA435425421 | CASR | c.2421T>A (p.Ala807=) c.2682T>A (p.Ala894=) c.2652T>A (p.Ala884=) c.2169T>A (p.Ala723=) c.2064T>A (p.Ala688=) | |
| 3 | g.122284606T>C | CA435425422 | CASR | c.2421T>C (p.Ala807=) c.2682T>C (p.Ala894=) c.2652T>C (p.Ala884=) c.2169T>C (p.Ala723=) c.2064T>C (p.Ala688=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284606T>G | CA435425423 | CASR | c.2421T>G (p.Ala807=) c.2682T>G (p.Ala894=) c.2652T>G (p.Ala884=) c.2169T>G (p.Ala723=) c.2064T>G (p.Ala688=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284606T= | CA1397872718 | CASR | c.2421T= (p.Ala807=) c.2682T= (p.Ala894=) c.2652T= (p.Ala884=) c.2169T= (p.Ala723=) c.2064T= (p.Ala688=) | |
| 3 | g.122284607G>A | CA354160496 | CASR | c.2422G>A (p.Ala808Thr) c.2683G>A (p.Ala895Thr) c.2653G>A (p.Ala885Thr) c.2170G>A (p.Ala724Thr) c.2065G>A (p.Ala689Thr) | |
| 3 | g.122284607G>C | CA354160494 | CASR | c.2422G>C (p.Ala808Pro) c.2683G>C (p.Ala895Pro) c.2653G>C (p.Ala885Pro) c.2170G>C (p.Ala724Pro) c.2065G>C (p.Ala689Pro) | |
| 3 | g.122284607G>T | CA354160495 | CASR | c.2422G>T (p.Ala808Ser) c.2683G>T (p.Ala895Ser) c.2653G>T (p.Ala885Ser) c.2170G>T (p.Ala724Ser) c.2065G>T (p.Ala689Ser) | gnomAD v4 |
| 3 | g.122284607_122284636del | CA2580068666 | CASR | c.2422_2451del (p.Ala808_Val817del) c.2683_2712del (p.Ala895_Val904del) c.2653_2682del (p.Ala885_Val894del) c.2170_2199del (p.Ala724_Val733del) c.2065_2094del (p.Ala689_Val698del) | ClinVar dbSNP |
| 3 | g.122284608C>A | CA354160497 | CASR | c.2423C>A (p.Ala808Asp) c.2684C>A (p.Ala895Asp) c.2654C>A (p.Ala885Asp) c.2171C>A (p.Ala724Asp) c.2066C>A (p.Ala689Asp) | |
| 3 | g.122284608C>G | CA354160498 | CASR | c.2423C>G (p.Ala808Gly) c.2684C>G (p.Ala895Gly) c.2654C>G (p.Ala885Gly) c.2171C>G (p.Ala724Gly) c.2066C>G (p.Ala689Gly) | |
| 3 | g.122284608C>T | CA354160499 | CASR | c.2423C>T (p.Ala808Val) c.2684C>T (p.Ala895Val) c.2654C>T (p.Ala885Val) c.2171C>T (p.Ala724Val) c.2066C>T (p.Ala689Val) | |
| 3 | g.122284609C>A | CA435425425 | CASR | c.2424C>A (p.Ala808=) c.2685C>A (p.Ala895=) c.2655C>A (p.Ala885=) c.2172C>A (p.Ala724=) c.2067C>A (p.Ala689=) | |
| 3 | g.122284609C>G | CA435425427 | CASR | c.2424C>G (p.Ala808=) c.2685C>G (p.Ala895=) c.2655C>G (p.Ala885=) c.2172C>G (p.Ala724=) c.2067C>G (p.Ala689=) | |
| 3 | g.122284609C>T | CA435425426 | CASR | c.2424C>T (p.Ala808=) c.2685C>T (p.Ala895=) c.2655C>T (p.Ala885=) c.2172C>T (p.Ala724=) c.2067C>T (p.Ala689=) | |
| 3 | g.122284610C>A | CA435425428 | CASR | c.2425C>A (p.Arg809=) c.2686C>A (p.Arg896=) c.2656C>A (p.Arg886=) c.2173C>A (p.Arg725=) c.2068C>A (p.Arg690=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284610C= | CA1397872723 | CASR | c.2425C= (p.Arg809=) c.2686C= (p.Arg896=) c.2656C= (p.Arg886=) c.2173C= (p.Arg725=) c.2068C= (p.Arg690=) | |
| 3 | g.122284610C>G | CA354160500 | CASR | c.2425C>G (p.Arg809Gly) c.2686C>G (p.Arg896Gly) c.2656C>G (p.Arg886Gly) c.2173C>G (p.Arg725Gly) c.2068C>G (p.Arg690Gly) | ClinVar |
| 3 | g.122284610C>T | CA354160501 | CASR | c.2425C>T (p.Arg809Trp) c.2686C>T (p.Arg896Trp) c.2656C>T (p.Arg886Trp) c.2173C>T (p.Arg725Trp) c.2068C>T (p.Arg690Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284611G>A | CA354160502 | CASR | c.2426G>A (p.Arg809Gln) c.2687G>A (p.Arg896Gln) c.2657G>A (p.Arg886Gln) c.2174G>A (p.Arg725Gln) c.2069G>A (p.Arg690Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284611G>C | CA16604355 | CASR | c.2426G>C (p.Arg809Pro) c.2687G>C (p.Arg896Pro) c.2657G>C (p.Arg886Pro) c.2174G>C (p.Arg725Pro) c.2069G>C (p.Arg690Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284611G= | CA1397872730 | CASR | c.2426G= (p.Arg809=) c.2687G= (p.Arg896=) c.2657G= (p.Arg886=) c.2174G= (p.Arg725=) c.2069G= (p.Arg690=) | |
| 3 | g.122284611G>T | CA354160503 | CASR | c.2426G>T (p.Arg809Leu) c.2687G>T (p.Arg896Leu) c.2657G>T (p.Arg886Leu) c.2174G>T (p.Arg725Leu) c.2069G>T (p.Arg690Leu) | |
| 3 | g.122284612G>A | CA435425431 | CASR | c.2427G>A (p.Arg809=) c.2688G>A (p.Arg896=) c.2658G>A (p.Arg886=) c.2175G>A (p.Arg725=) c.2070G>A (p.Arg690=) | ClinVar dbSNP |
| 3 | g.122284612G>C | CA435425433 | CASR | c.2427G>C (p.Arg809=) c.2688G>C (p.Arg896=) c.2658G>C (p.Arg886=) c.2175G>C (p.Arg725=) c.2070G>C (p.Arg690=) | |
| 3 | g.122284612G= | CA1397872737 | CASR | c.2427G= (p.Arg809=) c.2688G= (p.Arg896=) c.2658G= (p.Arg886=) c.2175G= (p.Arg725=) c.2070G= (p.Arg690=) | |
| 3 | g.122284612G>T | CA435425434 | CASR | c.2427G>T (p.Arg809=) c.2688G>T (p.Arg896=) c.2658G>T (p.Arg886=) c.2175G>T (p.Arg725=) c.2070G>T (p.Arg690=) | ClinVar dbSNP |
| 3 | g.122284613G>A | CA354160506 | CASR | c.2428G>A (p.Ala810Thr) c.2689G>A (p.Ala897Thr) c.2659G>A (p.Ala887Thr) c.2176G>A (p.Ala726Thr) c.2071G>A (p.Ala691Thr) | ClinVar |
| 3 | g.122284613G>C | CA354160504 | CASR | c.2428G>C (p.Ala810Pro) c.2689G>C (p.Ala897Pro) c.2659G>C (p.Ala887Pro) c.2176G>C (p.Ala726Pro) c.2071G>C (p.Ala691Pro) | |
| 3 | g.122284613G>T | CA354160505 | CASR | c.2428G>T (p.Ala810Ser) c.2689G>T (p.Ala897Ser) c.2659G>T (p.Ala887Ser) c.2176G>T (p.Ala726Ser) c.2071G>T (p.Ala691Ser) | |
| 3 | g.122284614C>A | CA354160507 | CASR | c.2429C>A (p.Ala810Asp) c.2690C>A (p.Ala897Asp) c.2660C>A (p.Ala887Asp) c.2177C>A (p.Ala726Asp) c.2072C>A (p.Ala691Asp) | ClinVar |
| 3 | g.122284614C>G | CA354160508 | CASR | c.2429C>G (p.Ala810Gly) c.2690C>G (p.Ala897Gly) c.2660C>G (p.Ala887Gly) c.2177C>G (p.Ala726Gly) c.2072C>G (p.Ala691Gly) | COSMIC |
| 3 | g.122284614C>T | CA354160509 | CASR | c.2429C>T (p.Ala810Val) c.2690C>T (p.Ala897Val) c.2660C>T (p.Ala887Val) c.2177C>T (p.Ala726Val) c.2072C>T (p.Ala691Val) | COSMIC |
| 3 | g.122284615C>A | CA435425436 | CASR | c.2430C>A (p.Ala810=) c.2691C>A (p.Ala897=) c.2661C>A (p.Ala887=) c.2178C>A (p.Ala726=) c.2073C>A (p.Ala691=) | |
| 3 | g.122284615C>G | CA435425437 | CASR | c.2430C>G (p.Ala810=) c.2691C>G (p.Ala897=) c.2661C>G (p.Ala887=) c.2178C>G (p.Ala726=) c.2073C>G (p.Ala691=) | |
| 3 | g.122284615C>T | CA435425438 | CASR | c.2430C>T (p.Ala810=) c.2691C>T (p.Ala897=) c.2661C>T (p.Ala887=) c.2178C>T (p.Ala726=) c.2073C>T (p.Ala691=) | |
| 3 | g.122284615_122284631delinsCACGCTGCGCCGCAGCA | CA1397872740 | CASR | c.2430_2446delinsCACGCTGCGCCGCAGCA (p.Ala810=) c.2691_2707delinsCACGCTGCGCCGCAGCA (p.Ala897=) c.2661_2677delinsCACGCTGCGCCGCAGCA (p.Ala887=) c.2178_2194delinsCACGCTGCGCCGCAGCA (p.Ala726=) c.2073_2089delinsCACGCTGCGCCGCAGCA (p.Ala691=) | |
| 3 | g.122284616A= | CA1397872745 | CASR | c.2431A= (p.Thr811=) c.2692A= (p.Thr898=) c.2662A= (p.Thr888=) c.2179A= (p.Thr727=) c.2074A= (p.Thr692=) | |
| 3 | g.122284616A>C | CA354160510 | CASR | c.2431A>C (p.Thr811Pro) c.2692A>C (p.Thr898Pro) c.2662A>C (p.Thr888Pro) c.2179A>C (p.Thr727Pro) c.2074A>C (p.Thr692Pro) | dbSNP |
| 3 | g.122284616A>G | CA354160511 | CASR | c.2431A>G (p.Thr811Ala) c.2692A>G (p.Thr898Ala) c.2662A>G (p.Thr888Ala) c.2179A>G (p.Thr727Ala) c.2074A>G (p.Thr692Ala) | |
| 3 | g.122284616A>T | CA354160512 | CASR | c.2431A>T (p.Thr811Ser) c.2692A>T (p.Thr898Ser) c.2662A>T (p.Thr888Ser) c.2179A>T (p.Thr727Ser) c.2074A>T (p.Thr692Ser) | gnomAD v4 |
| 3 | g.122284619_122284634del | CA915941533 | CASR | c.2434_2449del (p.Leu812SerfsTer?) c.2695_2710del (p.Leu899SerfsTer?) c.2665_2680del (p.Leu889SerfsTer?) c.2182_2197del (p.Leu728SerfsTer?) c.2077_2092del (p.Leu693SerfsTer?) | ClinVar dbSNP |
| 3 | g.122284617C>A | CA354160513 | CASR | c.2432C>A (p.Thr811Lys) c.2693C>A (p.Thr898Lys) c.2663C>A (p.Thr888Lys) c.2180C>A (p.Thr727Lys) c.2075C>A (p.Thr692Lys) | |
| 3 | g.122284617C>G | CA354160514 | CASR | c.2432C>G (p.Thr811Arg) c.2693C>G (p.Thr898Arg) c.2663C>G (p.Thr888Arg) c.2180C>G (p.Thr727Arg) c.2075C>G (p.Thr692Arg) | |
| 3 | g.122284617C>T | CA354160515 | CASR | c.2432C>T (p.Thr811Met) c.2693C>T (p.Thr898Met) c.2663C>T (p.Thr888Met) c.2180C>T (p.Thr727Met) c.2075C>T (p.Thr692Met) | ClinVar gnomAD v4 |
| 3 | g.122284618G>A | CA2569840 | CASR | c.2433G>A (p.Thr811=) c.2694G>A (p.Thr898=) c.2664G>A (p.Thr888=) c.2181G>A (p.Thr727=) c.2076G>A (p.Thr692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284618G>C | CA435425440 | CASR | c.2433G>C (p.Thr811=) c.2694G>C (p.Thr898=) c.2664G>C (p.Thr888=) c.2181G>C (p.Thr727=) c.2076G>C (p.Thr692=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284618G= | CA1397872752 | CASR | c.2433G= (p.Thr811=) c.2694G= (p.Thr898=) c.2664G= (p.Thr888=) c.2181G= (p.Thr727=) c.2076G= (p.Thr692=) | |
| 3 | g.122284618G>T | CA435425441 | CASR | c.2433G>T (p.Thr811=) c.2694G>T (p.Thr898=) c.2664G>T (p.Thr888=) c.2181G>T (p.Thr727=) c.2076G>T (p.Thr692=) | ClinVar dbSNP COSMIC |
| 3 | g.122284619C>A | CA354160517 | CASR | c.2434C>A (p.Leu812Met) c.2695C>A (p.Leu899Met) c.2665C>A (p.Leu889Met) c.2182C>A (p.Leu728Met) c.2077C>A (p.Leu693Met) | |
| 3 | g.122284619C>G | CA354160516 | CASR | c.2434C>G (p.Leu812Val) c.2695C>G (p.Leu899Val) c.2665C>G (p.Leu889Val) c.2182C>G (p.Leu728Val) c.2077C>G (p.Leu693Val) | |
| 3 | g.122284619C>T | CA435425442 | CASR | c.2434C>T (p.Leu812=) c.2695C>T (p.Leu899=) c.2665C>T (p.Leu889=) c.2182C>T (p.Leu728=) c.2077C>T (p.Leu693=) | |
| 3 | g.122284620T>A | CA354160518 | CASR | c.2435T>A (p.Leu812Gln) c.2696T>A (p.Leu899Gln) c.2666T>A (p.Leu889Gln) c.2183T>A (p.Leu728Gln) c.2078T>A (p.Leu693Gln) | |
| 3 | g.122284620T>C | CA354160519 | CASR | c.2435T>C (p.Leu812Pro) c.2696T>C (p.Leu899Pro) c.2666T>C (p.Leu889Pro) c.2183T>C (p.Leu728Pro) c.2078T>C (p.Leu693Pro) | |
| 3 | g.122284620T>G | CA354160520 | CASR | c.2435T>G (p.Leu812Arg) c.2696T>G (p.Leu899Arg) c.2666T>G (p.Leu889Arg) c.2183T>G (p.Leu728Arg) c.2078T>G (p.Leu693Arg) | |
| 3 | g.122284621G>A | CA435425443 | CASR | c.2436G>A (p.Leu812=) c.2697G>A (p.Leu899=) c.2667G>A (p.Leu889=) c.2184G>A (p.Leu728=) c.2079G>A (p.Leu693=) | dbSNP gnomAD v4 |
| 3 | g.122284621G>C | CA82749120 | CASR | c.2436G>C (p.Leu812=) c.2697G>C (p.Leu899=) c.2667G>C (p.Leu889=) c.2184G>C (p.Leu728=) c.2079G>C (p.Leu693=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284621G= | CA1397872759 | CASR | c.2436G= (p.Leu812=) c.2697G= (p.Leu899=) c.2667G= (p.Leu889=) c.2184G= (p.Leu728=) c.2079G= (p.Leu693=) | |
| 3 | g.122284621G>T | CA435425445 | CASR | c.2436G>T (p.Leu812=) c.2697G>T (p.Leu899=) c.2667G>T (p.Leu889=) c.2184G>T (p.Leu728=) c.2079G>T (p.Leu693=) | |
| 3 | g.122284622C>A | CA354160521 | CASR | c.2437C>A (p.Arg813Ser) c.2698C>A (p.Arg900Ser) c.2668C>A (p.Arg890Ser) c.2185C>A (p.Arg729Ser) c.2080C>A (p.Arg694Ser) | dbSNP |
| 3 | g.122284622C= | CA1397872765 | CASR | c.2437C= (p.Arg813=) c.2698C= (p.Arg900=) c.2668C= (p.Arg890=) c.2185C= (p.Arg729=) c.2080C= (p.Arg694=) | |
| 3 | g.122284622C>G | CA354160522 | CASR | c.2437C>G (p.Arg813Gly) c.2698C>G (p.Arg900Gly) c.2668C>G (p.Arg890Gly) c.2185C>G (p.Arg729Gly) c.2080C>G (p.Arg694Gly) | |
| 3 | g.122284622C>T | CA2569841 | CASR | c.2437C>T (p.Arg813Cys) c.2698C>T (p.Arg900Cys) c.2668C>T (p.Arg890Cys) c.2185C>T (p.Arg729Cys) c.2080C>T (p.Arg694Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284623G>A | CA2569842 | CASR | c.2438G>A (p.Arg813His) c.2699G>A (p.Arg900His) c.2669G>A (p.Arg890His) c.2186G>A (p.Arg729His) c.2081G>A (p.Arg694His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284623G>C | CA354160523 | CASR | c.2438G>C (p.Arg813Pro) c.2699G>C (p.Arg900Pro) c.2669G>C (p.Arg890Pro) c.2186G>C (p.Arg729Pro) c.2081G>C (p.Arg694Pro) | |
| 3 | g.122284623G= | CA1397872773 | CASR | c.2438G= (p.Arg813=) c.2699G= (p.Arg900=) c.2669G= (p.Arg890=) c.2186G= (p.Arg729=) c.2081G= (p.Arg694=) | |
| 3 | g.122284623G>T | CA354160524 | CASR | c.2438G>T (p.Arg813Leu) c.2699G>T (p.Arg900Leu) c.2669G>T (p.Arg890Leu) c.2186G>T (p.Arg729Leu) c.2081G>T (p.Arg694Leu) | |
| 3 | g.122284624C>A | CA435425447 | CASR | c.2439C>A (p.Arg813=) c.2700C>A (p.Arg900=) c.2670C>A (p.Arg890=) c.2187C>A (p.Arg729=) c.2082C>A (p.Arg694=) | |
| 3 | g.122284624C= | CA1397872777 | CASR | c.2439C= (p.Arg813=) c.2700C= (p.Arg900=) c.2670C= (p.Arg890=) c.2187C= (p.Arg729=) c.2082C= (p.Arg694=) | |
| 3 | g.122284624C>G | CA435425449 | CASR | c.2439C>G (p.Arg813=) c.2700C>G (p.Arg900=) c.2670C>G (p.Arg890=) c.2187C>G (p.Arg729=) c.2082C>G (p.Arg694=) | |
| 3 | g.122284624C>T | CA435425450 | CASR | c.2439C>T (p.Arg813=) c.2700C>T (p.Arg900=) c.2670C>T (p.Arg890=) c.2187C>T (p.Arg729=) c.2082C>T (p.Arg694=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284625C>A | CA354160527 | CASR | c.2440C>A (p.Arg814Ser) c.2701C>A (p.Arg901Ser) c.2671C>A (p.Arg891Ser) c.2188C>A (p.Arg730Ser) c.2083C>A (p.Arg695Ser) | gnomAD v4 |
| 3 | g.122284625C= | CA1397872780 | CASR | c.2440C= (p.Arg814=) c.2701C= (p.Arg901=) c.2671C= (p.Arg891=) c.2188C= (p.Arg730=) c.2083C= (p.Arg695=) | |
| 3 | g.122284625C>G | CA354160526 | CASR | c.2440C>G (p.Arg814Gly) c.2701C>G (p.Arg901Gly) c.2671C>G (p.Arg891Gly) c.2188C>G (p.Arg730Gly) c.2083C>G (p.Arg695Gly) | ClinVar COSMIC |
| 3 | g.122284625C>T | CA354160525 | CASR | c.2440C>T (p.Arg814Cys) c.2701C>T (p.Arg901Cys) c.2671C>T (p.Arg891Cys) c.2188C>T (p.Arg730Cys) c.2083C>T (p.Arg695Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284626G>A | CA2569843 | CASR | c.2441G>A (p.Arg814His) c.2702G>A (p.Arg901His) c.2672G>A (p.Arg891His) c.2189G>A (p.Arg730His) c.2084G>A (p.Arg695His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284626G>C | CA354160528 | CASR | c.2441G>C (p.Arg814Pro) c.2702G>C (p.Arg901Pro) c.2672G>C (p.Arg891Pro) c.2189G>C (p.Arg730Pro) c.2084G>C (p.Arg695Pro) | COSMIC |
| 3 | g.122284626G= | CA1397872783 | CASR | c.2441G= (p.Arg814=) c.2702G= (p.Arg901=) c.2672G= (p.Arg891=) c.2189G= (p.Arg730=) c.2084G= (p.Arg695=) | |
| 3 | g.122284626G>T | CA354160529 | CASR | c.2441G>T (p.Arg814Leu) c.2702G>T (p.Arg901Leu) c.2672G>T (p.Arg891Leu) c.2189G>T (p.Arg730Leu) c.2084G>T (p.Arg695Leu) | |
| 3 | g.122284627C>A | CA435425452 | CASR | c.2442C>A (p.Arg814=) c.2703C>A (p.Arg901=) c.2673C>A (p.Arg891=) c.2190C>A (p.Arg730=) c.2085C>A (p.Arg695=) | |
| 3 | g.122284627C>G | CA435425453 | CASR | c.2442C>G (p.Arg814=) c.2703C>G (p.Arg901=) c.2673C>G (p.Arg891=) c.2190C>G (p.Arg730=) c.2085C>G (p.Arg695=) | |
| 3 | g.122284627C>T | CA435425454 | CASR | c.2442C>T (p.Arg814=) c.2703C>T (p.Arg901=) c.2673C>T (p.Arg891=) c.2190C>T (p.Arg730=) c.2085C>T (p.Arg695=) | ClinVar |
| 3 | g.122284628A>C | CA354160530 | CASR | c.2443A>C (p.Ser815Arg) c.2704A>C (p.Ser902Arg) c.2674A>C (p.Ser892Arg) c.2191A>C (p.Ser731Arg) c.2086A>C (p.Ser696Arg) | |
| 3 | g.122284628A>G | CA354160531 | CASR | c.2443A>G (p.Ser815Gly) c.2704A>G (p.Ser902Gly) c.2674A>G (p.Ser892Gly) c.2191A>G (p.Ser731Gly) c.2086A>G (p.Ser696Gly) | |
| 3 | g.122284628A>T | CA354160532 | CASR | c.2443A>T (p.Ser815Cys) c.2704A>T (p.Ser902Cys) c.2674A>T (p.Ser892Cys) c.2191A>T (p.Ser731Cys) c.2086A>T (p.Ser696Cys) | |
| 3 | g.122284629G>A | CA354160533 | CASR | c.2444G>A (p.Ser815Asn) c.2705G>A (p.Ser902Asn) c.2675G>A (p.Ser892Asn) c.2192G>A (p.Ser731Asn) c.2087G>A (p.Ser696Asn) | |
| 3 | g.122284629G>C | CA354160534 | CASR | c.2444G>C (p.Ser815Thr) c.2705G>C (p.Ser902Thr) c.2675G>C (p.Ser892Thr) c.2192G>C (p.Ser731Thr) c.2087G>C (p.Ser696Thr) | |
| 3 | g.122284629G>T | CA354160535 | CASR | c.2444G>T (p.Ser815Ile) c.2705G>T (p.Ser902Ile) c.2675G>T (p.Ser892Ile) c.2192G>T (p.Ser731Ile) c.2087G>T (p.Ser696Ile) | |
| 3 | g.122284630C>A | CA354160536 | CASR | c.2445C>A (p.Ser815Arg) c.2706C>A (p.Ser902Arg) c.2676C>A (p.Ser892Arg) c.2193C>A (p.Ser731Arg) c.2088C>A (p.Ser696Arg) | |
| 3 | g.122284630C>G | CA354160537 | CASR | c.2445C>G (p.Ser815Arg) c.2706C>G (p.Ser902Arg) c.2676C>G (p.Ser892Arg) c.2193C>G (p.Ser731Arg) c.2088C>G (p.Ser696Arg) | |
| 3 | g.122284630C>T | CA435425456 | CASR | c.2445C>T (p.Ser815=) c.2706C>T (p.Ser902=) c.2676C>T (p.Ser892=) c.2193C>T (p.Ser731=) c.2088C>T (p.Ser696=) | |
| 3 | g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA | CA1397872785 | CASR | c.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=) c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=) c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=) c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=) c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=) | |
| 3 | g.122284631A= | CA1397872793 | CASR | c.2446A= (p.Asn816=) c.2707A= (p.Asn903=) c.2677A= (p.Asn893=) c.2194A= (p.Asn732=) c.2089A= (p.Asn697=) | |
| 3 | g.122284631A>C | CA354160540 | CASR | c.2446A>C (p.Asn816His) c.2707A>C (p.Asn903His) c.2677A>C (p.Asn893His) c.2194A>C (p.Asn732His) c.2089A>C (p.Asn697His) | |
| 3 | g.122284631A>G | CA354160539 | CASR | c.2446A>G (p.Asn816Asp) c.2707A>G (p.Asn903Asp) c.2677A>G (p.Asn893Asp) c.2194A>G (p.Asn732Asp) c.2089A>G (p.Asn697Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284631A>T | CA354160538 | CASR | c.2446A>T (p.Asn816Tyr) c.2707A>T (p.Asn903Tyr) c.2677A>T (p.Asn893Tyr) c.2194A>T (p.Asn732Tyr) c.2089A>T (p.Asn697Tyr) | |
| 3 | g.122284636_122285178del | CA281596 | CASR | c.2451_2993del (p.Ser818_Val998del) c.2712_3254del (p.Ser905_Val1085del) c.2682_3224del (p.Ser895_Val1075del) c.2199_2741del (p.Ser734_Val914del) c.2094_2636del (p.Ser699_Val879del) | ClinVar dbSNP |
| 3 | g.122284632A>C | CA354160541 | CASR | c.2447A>C (p.Asn816Thr) c.2708A>C (p.Asn903Thr) c.2678A>C (p.Asn893Thr) c.2195A>C (p.Asn732Thr) c.2090A>C (p.Asn697Thr) | |
| 3 | g.122284632A>G | CA354160542 | CASR | c.2447A>G (p.Asn816Ser) c.2708A>G (p.Asn903Ser) c.2678A>G (p.Asn893Ser) c.2195A>G (p.Asn732Ser) c.2090A>G (p.Asn697Ser) | |
| 3 | g.122284632A>T | CA354160543 | CASR | c.2447A>T (p.Asn816Ile) c.2708A>T (p.Asn903Ile) c.2678A>T (p.Asn893Ile) c.2195A>T (p.Asn732Ile) c.2090A>T (p.Asn697Ile) | |
| 3 | g.122284633C>A | CA354160544 | CASR | c.2448C>A (p.Asn816Lys) c.2709C>A (p.Asn903Lys) c.2679C>A (p.Asn893Lys) c.2196C>A (p.Asn732Lys) c.2091C>A (p.Asn697Lys) | |
| 3 | g.122284633C= | CA1397872798 | CASR | c.2448C= (p.Asn816=) c.2709C= (p.Asn903=) c.2679C= (p.Asn893=) c.2196C= (p.Asn732=) c.2091C= (p.Asn697=) | |
| 3 | g.122284633C>G | CA354160545 | CASR | c.2448C>G (p.Asn816Lys) c.2709C>G (p.Asn903Lys) c.2679C>G (p.Asn893Lys) c.2196C>G (p.Asn732Lys) c.2091C>G (p.Asn697Lys) | |
| 3 | g.122284633C>T | CA2569844 | CASR | c.2448C>T (p.Asn816=) c.2709C>T (p.Asn903=) c.2679C>T (p.Asn893=) c.2196C>T (p.Asn732=) c.2091C>T (p.Asn697=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284634G>A | CA354160546 | CASR | c.2449G>A (p.Val817Ile) c.2710G>A (p.Val904Ile) c.2680G>A (p.Val894Ile) c.2197G>A (p.Val733Ile) c.2092G>A (p.Val698Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284634G>C | CA354160547 | CASR | c.2449G>C (p.Val817Leu) c.2710G>C (p.Val904Leu) c.2680G>C (p.Val894Leu) c.2197G>C (p.Val733Leu) c.2092G>C (p.Val698Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284634G= | CA1397872806 | CASR | c.2449G= (p.Val817=) c.2710G= (p.Val904=) c.2680G= (p.Val894=) c.2197G= (p.Val733=) c.2092G= (p.Val698=) | |
| 3 | g.122284634G>T | CA2569845 | CASR | c.2449G>T (p.Val817Phe) c.2710G>T (p.Val904Phe) c.2680G>T (p.Val894Phe) c.2197G>T (p.Val733Phe) c.2092G>T (p.Val698Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284635T>A | CA354160548 | CASR | c.2450T>A (p.Val817Asp) c.2711T>A (p.Val904Asp) c.2681T>A (p.Val894Asp) c.2198T>A (p.Val733Asp) c.2093T>A (p.Val698Asp) | |
| 3 | g.122284635T>C | CA354160549 | CASR | c.2450T>C (p.Val817Ala) c.2711T>C (p.Val904Ala) c.2681T>C (p.Val894Ala) c.2198T>C (p.Val733Ala) c.2093T>C (p.Val698Ala) | |
| 3 | g.122284635T>G | CA354160550 | CASR | c.2450T>G (p.Val817Gly) c.2711T>G (p.Val904Gly) c.2681T>G (p.Val894Gly) c.2198T>G (p.Val733Gly) c.2093T>G (p.Val698Gly) | |
| 3 | g.122284636del | CA2586972875 | CASR | c.2451del (p.Ser818ProfsTer?) c.2712del (p.Ser905ProfsTer?) c.2682del (p.Ser895ProfsTer?) c.2199del (p.Ser734ProfsTer?) c.2094del (p.Ser699ProfsTer?) | |
| 3 | g.122284636C>A | CA435425459 | CASR | c.2451C>A (p.Val817=) c.2712C>A (p.Val904=) c.2682C>A (p.Val894=) c.2199C>A (p.Val733=) c.2094C>A (p.Val698=) | |
| 3 | g.122284636C>G | CA435425460 | CASR | c.2451C>G (p.Val817=) c.2712C>G (p.Val904=) c.2682C>G (p.Val894=) c.2199C>G (p.Val733=) c.2094C>G (p.Val698=) | gnomAD v4 |
| 3 | g.122284636C>T | CA435425461 | CASR | c.2451C>T (p.Val817=) c.2712C>T (p.Val904=) c.2682C>T (p.Val894=) c.2199C>T (p.Val733=) c.2094C>T (p.Val698=) | COSMIC |
| 3 | g.122284637T>A | CA354160551 | CASR | c.2452T>A (p.Ser818Thr) c.2713T>A (p.Ser905Thr) c.2683T>A (p.Ser895Thr) c.2200T>A (p.Ser734Thr) c.2095T>A (p.Ser699Thr) | |
| 3 | g.122284637T>C | CA354160552 | CASR | c.2452T>C (p.Ser818Pro) c.2713T>C (p.Ser905Pro) c.2683T>C (p.Ser895Pro) c.2200T>C (p.Ser734Pro) c.2095T>C (p.Ser699Pro) | dbSNP gnomAD v2 |
| 3 | g.122284637T>G | CA354160553 | CASR | c.2452T>G (p.Ser818Ala) c.2713T>G (p.Ser905Ala) c.2683T>G (p.Ser895Ala) c.2200T>G (p.Ser734Ala) c.2095T>G (p.Ser699Ala) | |
| 3 | g.122284637T= | CA1397872810 | CASR | c.2452T= (p.Ser818=) c.2713T= (p.Ser905=) c.2683T= (p.Ser895=) c.2200T= (p.Ser734=) c.2095T= (p.Ser699=) | |
| 3 | g.122284637_122284638delinsTC | CA1397872808 | CASR | c.2452_2453delinsTC (p.Ser818=) c.2713_2714delinsTC (p.Ser905=) c.2683_2684delinsTC (p.Ser895=) c.2200_2201delinsTC (p.Ser734=) c.2095_2096delinsTC (p.Ser699=) | |
| 3 | g.122284638C>A | CA354160554 | CASR | c.2453C>A (p.Ser818Tyr) c.2714C>A (p.Ser905Tyr) c.2684C>A (p.Ser895Tyr) c.2201C>A (p.Ser734Tyr) c.2096C>A (p.Ser699Tyr) | |
| 3 | g.122284638C= | CA1397872812 | CASR | c.2453C= (p.Ser818=) c.2714C= (p.Ser905=) c.2684C= (p.Ser895=) c.2201C= (p.Ser734=) c.2096C= (p.Ser699=) | |
| 3 | g.122284638C>G | CA354160555 | CASR | c.2453C>G (p.Ser818Cys) c.2714C>G (p.Ser905Cys) c.2684C>G (p.Ser895Cys) c.2201C>G (p.Ser734Cys) c.2096C>G (p.Ser699Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284638C>T | CA354160556 | CASR | c.2453C>T (p.Ser818Phe) c.2714C>T (p.Ser905Phe) c.2684C>T (p.Ser895Phe) c.2201C>T (p.Ser734Phe) c.2096C>T (p.Ser699Phe) | |
| 3 | g.122284640del | CA213592 | CASR | c.2455del (p.Arg819AlafsTer?) c.2716del (p.Arg906AlafsTer?) c.2686del (p.Arg896AlafsTer?) c.2203del (p.Arg735AlafsTer?) c.2098del (p.Arg700AlafsTer?) | ClinVar dbSNP |
| 3 | g.122284639C>A | CA435425462 | CASR | c.2454C>A (p.Ser818=) c.2715C>A (p.Ser905=) c.2685C>A (p.Ser895=) c.2202C>A (p.Ser734=) c.2097C>A (p.Ser699=) | |
| 3 | g.122284639C>G | CA435425463 | CASR | c.2454C>G (p.Ser818=) c.2715C>G (p.Ser905=) c.2685C>G (p.Ser895=) c.2202C>G (p.Ser734=) c.2097C>G (p.Ser699=) | |
| 3 | g.122284639C>T | CA435425464 | CASR | c.2454C>T (p.Ser818=) c.2715C>T (p.Ser905=) c.2685C>T (p.Ser895=) c.2202C>T (p.Ser734=) c.2097C>T (p.Ser699=) | ClinVar COSMIC |
| 3 | g.122284640C>A | CA354160557 | CASR | c.2455C>A (p.Arg819Ser) c.2716C>A (p.Arg906Ser) c.2686C>A (p.Arg896Ser) c.2203C>A (p.Arg735Ser) c.2098C>A (p.Arg700Ser) | |
| 3 | g.122284640C= | CA1397872816 | CASR | c.2455C= (p.Arg819=) c.2716C= (p.Arg906=) c.2686C= (p.Arg896=) c.2203C= (p.Arg735=) c.2098C= (p.Arg700=) | |
| 3 | g.122284640C>G | CA2569846 | CASR | c.2455C>G (p.Arg819Gly) c.2716C>G (p.Arg906Gly) c.2686C>G (p.Arg896Gly) c.2203C>G (p.Arg735Gly) c.2098C>G (p.Arg700Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284640C>T | CA2569847 | CASR | c.2455C>T (p.Arg819Cys) c.2716C>T (p.Arg906Cys) c.2686C>T (p.Arg896Cys) c.2203C>T (p.Arg735Cys) c.2098C>T (p.Arg700Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284641G>A | CA16611132 | CASR | c.2456G>A (p.Arg819His) c.2717G>A (p.Arg906His) c.2687G>A (p.Arg896His) c.2204G>A (p.Arg735His) c.2099G>A (p.Arg700His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284641G>C | CA354160558 | CASR | c.2456G>C (p.Arg819Pro) c.2717G>C (p.Arg906Pro) c.2687G>C (p.Arg896Pro) c.2204G>C (p.Arg735Pro) c.2099G>C (p.Arg700Pro) | |
| 3 | g.122284641G= | CA1397872818 | CASR | c.2456G= (p.Arg819=) c.2717G= (p.Arg906=) c.2687G= (p.Arg896=) c.2204G= (p.Arg735=) c.2099G= (p.Arg700=) | |
| 3 | g.122284641G>T | CA2569848 | CASR | c.2456G>T (p.Arg819Leu) c.2717G>T (p.Arg906Leu) c.2687G>T (p.Arg896Leu) c.2204G>T (p.Arg735Leu) c.2099G>T (p.Arg700Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284642C>A | CA82749164 | CASR | c.2457C>A (p.Arg819=) c.2718C>A (p.Arg906=) c.2688C>A (p.Arg896=) c.2205C>A (p.Arg735=) c.2100C>A (p.Arg700=) | ClinVar dbSNP |
| 3 | g.122284642C= | CA1397872821 | CASR | c.2457C= (p.Arg819=) c.2718C= (p.Arg906=) c.2688C= (p.Arg896=) c.2205C= (p.Arg735=) c.2100C= (p.Arg700=) | |
| 3 | g.122284642C>G | CA435425470 | CASR | c.2457C>G (p.Arg819=) c.2718C>G (p.Arg906=) c.2688C>G (p.Arg896=) c.2205C>G (p.Arg735=) c.2100C>G (p.Arg700=) | |
| 3 | g.122284642C>T | CA435425469 | CASR | c.2457C>T (p.Arg819=) c.2718C>T (p.Arg906=) c.2688C>T (p.Arg896=) c.2205C>T (p.Arg735=) c.2100C>T (p.Arg700=) | |
| 3 | g.122284643A>C | CA354160561 | CASR | c.2458A>C (p.Lys820Gln) c.2719A>C (p.Lys907Gln) c.2689A>C (p.Lys897Gln) c.2206A>C (p.Lys736Gln) c.2101A>C (p.Lys701Gln) | |
| 3 | g.122284643A>G | CA354160560 | CASR | c.2458A>G (p.Lys820Glu) c.2719A>G (p.Lys907Glu) c.2689A>G (p.Lys897Glu) c.2206A>G (p.Lys736Glu) c.2101A>G (p.Lys701Glu) | |
| 3 | g.122284643A>T | CA354160559 | CASR | c.2458A>T (p.Lys820Ter) c.2719A>T (p.Lys907Ter) c.2689A>T (p.Lys897Ter) c.2206A>T (p.Lys736Ter) c.2101A>T (p.Lys701Ter) | |
| 3 | g.122284644A= | CA1397872823 | CASR | c.2459A= (p.Lys820=) c.2720A= (p.Lys907=) c.2690A= (p.Lys897=) c.2207A= (p.Lys736=) c.2102A= (p.Lys701=) | |
| 3 | g.122284644A>C | CA354160562 | CASR | c.2459A>C (p.Lys820Thr) c.2720A>C (p.Lys907Thr) c.2690A>C (p.Lys897Thr) c.2207A>C (p.Lys736Thr) c.2102A>C (p.Lys701Thr) | |
| 3 | g.122284644A>G | CA82749167 | CASR | c.2459A>G (p.Lys820Arg) c.2720A>G (p.Lys907Arg) c.2690A>G (p.Lys897Arg) c.2207A>G (p.Lys736Arg) c.2102A>G (p.Lys701Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284644A>T | CA354160563 | CASR | c.2459A>T (p.Lys820Met) c.2720A>T (p.Lys907Met) c.2690A>T (p.Lys897Met) c.2207A>T (p.Lys736Met) c.2102A>T (p.Lys701Met) | |
| 3 | g.122284645G>A | CA435425474 | CASR | c.2460G>A (p.Lys820=) c.2721G>A (p.Lys907=) c.2691G>A (p.Lys897=) c.2208G>A (p.Lys736=) c.2103G>A (p.Lys701=) | |
| 3 | g.122284645G>C | CA354160564 | CASR | c.2460G>C (p.Lys820Asn) c.2721G>C (p.Lys907Asn) c.2691G>C (p.Lys897Asn) c.2208G>C (p.Lys736Asn) c.2103G>C (p.Lys701Asn) | |
| 3 | g.122284645G>T | CA354160565 | CASR | c.2460G>T (p.Lys820Asn) c.2721G>T (p.Lys907Asn) c.2691G>T (p.Lys897Asn) c.2208G>T (p.Lys736Asn) c.2103G>T (p.Lys701Asn) | |
| 3 | g.122284645dup | CA2586972876 | CASR | c.2460dup (p.Arg821AlafsTer?) c.2721dup (p.Arg908AlafsTer?) c.2691dup (p.Arg898AlafsTer?) c.2208dup (p.Arg737AlafsTer?) c.2103dup (p.Arg702AlafsTer?) | |
| 3 | g.122284646C>A | CA2569849 | CASR | c.2461C>A (p.Arg821=) c.2722C>A (p.Arg908=) c.2692C>A (p.Arg898=) c.2209C>A (p.Arg737=) c.2104C>A (p.Arg702=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284646C= | CA1397872825 | CASR | c.2461C= (p.Arg821=) c.2722C= (p.Arg908=) c.2692C= (p.Arg898=) c.2209C= (p.Arg737=) c.2104C= (p.Arg702=) | |
| 3 | g.122284646C>G | CA354160566 | CASR | c.2461C>G (p.Arg821Gly) c.2722C>G (p.Arg908Gly) c.2692C>G (p.Arg898Gly) c.2209C>G (p.Arg737Gly) c.2104C>G (p.Arg702Gly) | |
| 3 | g.122284646C>T | CA354160567 | CASR | c.2461C>T (p.Arg821Trp) c.2722C>T (p.Arg908Trp) c.2692C>T (p.Arg898Trp) c.2209C>T (p.Arg737Trp) c.2104C>T (p.Arg702Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284647G>A | CA119549 | CASR | c.2462G>A (p.Arg821Gln) c.2723G>A (p.Arg908Gln) c.2693G>A (p.Arg898Gln) c.2210G>A (p.Arg737Gln) c.2105G>A (p.Arg702Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284647G>C | CA354160568 | CASR | c.2462G>C (p.Arg821Pro) c.2723G>C (p.Arg908Pro) c.2693G>C (p.Arg898Pro) c.2210G>C (p.Arg737Pro) c.2105G>C (p.Arg702Pro) | |
| 3 | g.122284647G= | CA1397872827 | CASR | c.2462G= (p.Arg821=) c.2723G= (p.Arg908=) c.2693G= (p.Arg898=) c.2210G= (p.Arg737=) c.2105G= (p.Arg702=) | |
| 3 | g.122284647G>T | CA354160569 | CASR | c.2462G>T (p.Arg821Leu) c.2723G>T (p.Arg908Leu) c.2693G>T (p.Arg898Leu) c.2210G>T (p.Arg737Leu) c.2105G>T (p.Arg702Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284648G>A | CA435425479 | CASR | c.2463G>A (p.Arg821=) c.2724G>A (p.Arg908=) c.2694G>A (p.Arg898=) c.2211G>A (p.Arg737=) c.2106G>A (p.Arg702=) | |
| 3 | g.122284648G>C | CA435425480 | CASR | c.2463G>C (p.Arg821=) c.2724G>C (p.Arg908=) c.2694G>C (p.Arg898=) c.2211G>C (p.Arg737=) c.2106G>C (p.Arg702=) | |
| 3 | g.122284648G>T | CA435425481 | CASR | c.2463G>T (p.Arg821=) c.2724G>T (p.Arg908=) c.2694G>T (p.Arg898=) c.2211G>T (p.Arg737=) c.2106G>T (p.Arg702=) | ClinVar COSMIC |
| 3 | g.122284649T>A | CA354160570 | CASR | c.2464T>A (p.Ser822Thr) c.2725T>A (p.Ser909Thr) c.2695T>A (p.Ser899Thr) c.2212T>A (p.Ser738Thr) c.2107T>A (p.Ser703Thr) | |
| 3 | g.122284649T>C | CA2569850 | CASR | c.2464T>C (p.Ser822Pro) c.2725T>C (p.Ser909Pro) c.2695T>C (p.Ser899Pro) c.2212T>C (p.Ser738Pro) c.2107T>C (p.Ser703Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284649T>G | CA354160571 | CASR | c.2464T>G (p.Ser822Ala) c.2725T>G (p.Ser909Ala) c.2695T>G (p.Ser899Ala) c.2212T>G (p.Ser738Ala) c.2107T>G (p.Ser703Ala) | |
| 3 | g.122284649T= | CA1397872830 | CASR | c.2464T= (p.Ser822=) c.2725T= (p.Ser909=) c.2695T= (p.Ser899=) c.2212T= (p.Ser738=) c.2107T= (p.Ser703=) | |
| 3 | g.122284650C>A | CA354160573 | CASR | c.2465C>A (p.Ser822Tyr) c.2726C>A (p.Ser909Tyr) c.2696C>A (p.Ser899Tyr) c.2213C>A (p.Ser738Tyr) c.2108C>A (p.Ser703Tyr) | |
| 3 | g.122284650C>G | CA354160574 | CASR | c.2465C>G (p.Ser822Cys) c.2726C>G (p.Ser909Cys) c.2696C>G (p.Ser899Cys) c.2213C>G (p.Ser738Cys) c.2108C>G (p.Ser703Cys) | ClinVar dbSNP |
| 3 | g.122284650C>T | CA354160572 | CASR | c.2465C>T (p.Ser822Phe) c.2726C>T (p.Ser909Phe) c.2696C>T (p.Ser899Phe) c.2213C>T (p.Ser738Phe) c.2108C>T (p.Ser703Phe) | |
| 3 | g.122284651C>A | CA435425487 | CASR | c.2466C>A (p.Ser822=) c.2727C>A (p.Ser909=) c.2697C>A (p.Ser899=) c.2214C>A (p.Ser738=) c.2109C>A (p.Ser703=) | |
| 3 | g.122284651C>G | CA435425486 | CASR | c.2466C>G (p.Ser822=) c.2727C>G (p.Ser909=) c.2697C>G (p.Ser899=) c.2214C>G (p.Ser738=) c.2109C>G (p.Ser703=) | |
| 3 | g.122284651C>T | CA435425485 | CASR | c.2466C>T (p.Ser822=) c.2727C>T (p.Ser909=) c.2697C>T (p.Ser899=) c.2214C>T (p.Ser738=) c.2109C>T (p.Ser703=) | |
| 3 | g.122284652A>C | CA354160575 | CASR | c.2467A>C (p.Ser823Arg) c.2728A>C (p.Ser910Arg) c.2698A>C (p.Ser900Arg) c.2215A>C (p.Ser739Arg) c.2110A>C (p.Ser704Arg) | |
| 3 | g.122284652A>G | CA354160576 | CASR | c.2467A>G (p.Ser823Gly) c.2728A>G (p.Ser910Gly) c.2698A>G (p.Ser900Gly) c.2215A>G (p.Ser739Gly) c.2110A>G (p.Ser704Gly) | |
| 3 | g.122284652A>T | CA354160577 | CASR | c.2467A>T (p.Ser823Cys) c.2728A>T (p.Ser910Cys) c.2698A>T (p.Ser900Cys) c.2215A>T (p.Ser739Cys) c.2110A>T (p.Ser704Cys) | |
| 3 | g.122284653G>A | CA354160578 | CASR | c.2468G>A (p.Ser823Asn) c.2729G>A (p.Ser910Asn) c.2699G>A (p.Ser900Asn) c.2216G>A (p.Ser739Asn) c.2111G>A (p.Ser704Asn) | |
| 3 | g.122284653G>C | CA354160579 | CASR | c.2468G>C (p.Ser823Thr) c.2729G>C (p.Ser910Thr) c.2699G>C (p.Ser900Thr) c.2216G>C (p.Ser739Thr) c.2111G>C (p.Ser704Thr) | |
| 3 | g.122284653G>T | CA354160580 | CASR | c.2468G>T (p.Ser823Ile) c.2729G>T (p.Ser910Ile) c.2699G>T (p.Ser900Ile) c.2216G>T (p.Ser739Ile) c.2111G>T (p.Ser704Ile) | gnomAD v4 |
| 3 | g.122284654C>A | CA354160581 | CASR | c.2469C>A (p.Ser823Arg) c.2730C>A (p.Ser910Arg) c.2700C>A (p.Ser900Arg) c.2217C>A (p.Ser739Arg) c.2112C>A (p.Ser704Arg) | |
| 3 | g.122284654C>G | CA354160582 | CASR | c.2469C>G (p.Ser823Arg) c.2730C>G (p.Ser910Arg) c.2700C>G (p.Ser900Arg) c.2217C>G (p.Ser739Arg) c.2112C>G (p.Ser704Arg) | |
| 3 | g.122284654C>T | CA435425491 | CASR | c.2469C>T (p.Ser823=) c.2730C>T (p.Ser910=) c.2700C>T (p.Ser900=) c.2217C>T (p.Ser739=) c.2112C>T (p.Ser704=) | ClinVar gnomAD v4 |
| 3 | g.122284655A>C | CA354160583 | CASR | c.2470A>C (p.Ser824Arg) c.2731A>C (p.Ser911Arg) c.2701A>C (p.Ser901Arg) c.2218A>C (p.Ser740Arg) c.2113A>C (p.Ser705Arg) | |
| 3 | g.122284655A>G | CA354160584 | CASR | c.2470A>G (p.Ser824Gly) c.2731A>G (p.Ser911Gly) c.2701A>G (p.Ser901Gly) c.2218A>G (p.Ser740Gly) c.2113A>G (p.Ser705Gly) | gnomAD v4 |
| 3 | g.122284655A>T | CA354160585 | CASR | c.2470A>T (p.Ser824Cys) c.2731A>T (p.Ser911Cys) c.2701A>T (p.Ser901Cys) c.2218A>T (p.Ser740Cys) c.2113A>T (p.Ser705Cys) | |
| 3 | g.122284657_122284664del | CA2586972877 | CASR | c.2472_2479del (p.Ser824ArgfsTer?) c.2733_2740del (p.Ser911ArgfsTer?) c.2703_2710del (p.Ser901ArgfsTer?) c.2220_2227del (p.Ser740ArgfsTer?) c.2115_2122del (p.Ser705ArgfsTer?) | |
| 3 | g.122284656G>A | CA354160586 | CASR | c.2471G>A (p.Ser824Asn) c.2732G>A (p.Ser911Asn) c.2702G>A (p.Ser901Asn) c.2219G>A (p.Ser740Asn) c.2114G>A (p.Ser705Asn) | ClinVar |
| 3 | g.122284656G>C | CA354160587 | CASR | c.2471G>C (p.Ser824Thr) c.2732G>C (p.Ser911Thr) c.2702G>C (p.Ser901Thr) c.2219G>C (p.Ser740Thr) c.2114G>C (p.Ser705Thr) | |
| 3 | g.122284656G>T | CA354160588 | CASR | c.2471G>T (p.Ser824Ile) c.2732G>T (p.Ser911Ile) c.2702G>T (p.Ser901Ile) c.2219G>T (p.Ser740Ile) c.2114G>T (p.Ser705Ile) | |
| 3 | g.122284657C>A | CA354160589 | CASR | c.2472C>A (p.Ser824Arg) c.2733C>A (p.Ser911Arg) c.2703C>A (p.Ser901Arg) c.2220C>A (p.Ser740Arg) c.2115C>A (p.Ser705Arg) | |
| 3 | g.122284657C>G | CA354160590 | CASR | c.2472C>G (p.Ser824Arg) c.2733C>G (p.Ser911Arg) c.2703C>G (p.Ser901Arg) c.2220C>G (p.Ser740Arg) c.2115C>G (p.Ser705Arg) | |
| 3 | g.122284657C>T | CA435425493 | CASR | c.2472C>T (p.Ser824=) c.2733C>T (p.Ser911=) c.2703C>T (p.Ser901=) c.2220C>T (p.Ser740=) c.2115C>T (p.Ser705=) |