Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122284442G>A | CA354160062 | CASR | c.2257G>A (p.Gly753Ser) c.2518G>A (p.Gly840Ser) c.2488G>A (p.Gly830Ser) c.2005G>A (p.Gly669Ser) c.1900G>A (p.Gly634Ser) | |
3 | g.122284442G>C | CA354160061 | CASR | c.2257G>C (p.Gly753Arg) c.2518G>C (p.Gly840Arg) c.2488G>C (p.Gly830Arg) c.2005G>C (p.Gly669Arg) c.1900G>C (p.Gly634Arg) | |
3 | g.122284442G>T | CA354160060 | CASR | c.2257G>T (p.Gly753Cys) c.2518G>T (p.Gly840Cys) c.2488G>T (p.Gly830Cys) c.2005G>T (p.Gly669Cys) c.1900G>T (p.Gly634Cys) | |
3 | g.122284443del | CA2667224629 | CASR | c.2258del (p.Gly753AlafsTer7) c.2519del (p.Gly840AlafsTer7) c.2489del (p.Gly830AlafsTer7) c.2006del (p.Gly669AlafsTer7) c.1901del (p.Gly634AlafsTer7) | gnomAD v4 |
3 | g.122284443G>A | CA213588 | CASR | c.2258G>A (p.Gly753Asp) c.2519G>A (p.Gly840Asp) c.2489G>A (p.Gly830Asp) c.2006G>A (p.Gly669Asp) c.1901G>A (p.Gly634Asp) | ClinVar dbSNP COSMIC |
3 | g.122284443G>C | CA354160064 | CASR | c.2258G>C (p.Gly753Ala) c.2519G>C (p.Gly840Ala) c.2489G>C (p.Gly830Ala) c.2006G>C (p.Gly669Ala) c.1901G>C (p.Gly634Ala) | |
3 | g.122284443G= | CA1397872398 | CASR | c.2258G= (p.Gly753=) c.2519G= (p.Gly840=) c.2489G= (p.Gly830=) c.2006G= (p.Gly669=) c.1901G= (p.Gly634=) | |
3 | g.122284443G>T | CA354160063 | CASR | c.2258G>T (p.Gly753Val) c.2519G>T (p.Gly840Val) c.2489G>T (p.Gly830Val) c.2006G>T (p.Gly669Val) c.1901G>T (p.Gly634Val) | |
3 | g.122284444C>A | CA435425230 | CASR | c.2259C>A (p.Gly753=) c.2520C>A (p.Gly840=) c.2490C>A (p.Gly830=) c.2007C>A (p.Gly669=) c.1902C>A (p.Gly634=) | ClinVar |
3 | g.122284444C>G | CA435425224 | CASR | c.2259C>G (p.Gly753=) c.2520C>G (p.Gly840=) c.2490C>G (p.Gly830=) c.2007C>G (p.Gly669=) c.1902C>G (p.Gly634=) | |
3 | g.122284444C>T | CA435425227 | CASR | c.2259C>T (p.Gly753=) c.2520C>T (p.Gly840=) c.2490C>T (p.Gly830=) c.2007C>T (p.Gly669=) c.1902C>T (p.Gly634=) | |
3 | g.122284445A>C | CA354160065 | CASR | c.2260A>C (p.Lys754Gln) c.2521A>C (p.Lys841Gln) c.2491A>C (p.Lys831Gln) c.2008A>C (p.Lys670Gln) c.1903A>C (p.Lys635Gln) | |
3 | g.122284445A>G | CA354160066 | CASR | c.2260A>G (p.Lys754Glu) c.2521A>G (p.Lys841Glu) c.2491A>G (p.Lys831Glu) c.2008A>G (p.Lys670Glu) c.1903A>G (p.Lys635Glu) | |
3 | g.122284445A>T | CA354160067 | CASR | c.2260A>T (p.Lys754Ter) c.2521A>T (p.Lys841Ter) c.2491A>T (p.Lys831Ter) c.2008A>T (p.Lys670Ter) c.1903A>T (p.Lys635Ter) | |
3 | g.122284446A>C | CA354160068 | CASR | c.2261A>C (p.Lys754Thr) c.2522A>C (p.Lys841Thr) c.2492A>C (p.Lys831Thr) c.2009A>C (p.Lys670Thr) c.1904A>C (p.Lys635Thr) | |
3 | g.122284446A>G | CA354160069 | CASR | c.2261A>G (p.Lys754Arg) c.2522A>G (p.Lys841Arg) c.2492A>G (p.Lys831Arg) c.2009A>G (p.Lys670Arg) c.1904A>G (p.Lys635Arg) | |
3 | g.122284446A>T | CA354160070 | CASR | c.2261A>T (p.Lys754Met) c.2522A>T (p.Lys841Met) c.2492A>T (p.Lys831Met) c.2009A>T (p.Lys670Met) c.1904A>T (p.Lys635Met) | |
3 | g.122284447G>A | CA435425239 | CASR | c.2262G>A (p.Lys754=) c.2523G>A (p.Lys841=) c.2493G>A (p.Lys831=) c.2010G>A (p.Lys670=) c.1905G>A (p.Lys635=) | |
3 | g.122284447G>C | CA354160071 | CASR | c.2262G>C (p.Lys754Asn) c.2523G>C (p.Lys841Asn) c.2493G>C (p.Lys831Asn) c.2010G>C (p.Lys670Asn) c.1905G>C (p.Lys635Asn) | |
3 | g.122284447G>T | CA354160072 | CASR | c.2262G>T (p.Lys754Asn) c.2523G>T (p.Lys841Asn) c.2493G>T (p.Lys831Asn) c.2010G>T (p.Lys670Asn) c.1905G>T (p.Lys635Asn) | |
3 | g.122284448T>A | CA354160073 | CASR | c.2263T>A (p.Phe755Ile) c.2524T>A (p.Phe842Ile) c.2494T>A (p.Phe832Ile) c.2011T>A (p.Phe671Ile) c.1906T>A (p.Phe636Ile) | |
3 | g.122284448T>C | CA354160074 | CASR | c.2263T>C (p.Phe755Leu) c.2524T>C (p.Phe842Leu) c.2494T>C (p.Phe832Leu) c.2011T>C (p.Phe671Leu) c.1906T>C (p.Phe636Leu) | |
3 | g.122284448T>G | CA354160075 | CASR | c.2263T>G (p.Phe755Val) c.2524T>G (p.Phe842Val) c.2494T>G (p.Phe832Val) c.2011T>G (p.Phe671Val) c.1906T>G (p.Phe636Val) | |
3 | g.122284449T>A | CA354160078 | CASR | c.2264T>A (p.Phe755Tyr) c.2525T>A (p.Phe842Tyr) c.2495T>A (p.Phe832Tyr) c.2012T>A (p.Phe671Tyr) c.1907T>A (p.Phe636Tyr) | |
3 | g.122284449T>C | CA354160076 | CASR | c.2264T>C (p.Phe755Ser) c.2525T>C (p.Phe842Ser) c.2495T>C (p.Phe832Ser) c.2012T>C (p.Phe671Ser) c.1907T>C (p.Phe636Ser) | ClinVar dbSNP |
3 | g.122284449T>G | CA354160077 | CASR | c.2264T>G (p.Phe755Cys) c.2525T>G (p.Phe842Cys) c.2495T>G (p.Phe832Cys) c.2012T>G (p.Phe671Cys) c.1907T>G (p.Phe636Cys) | |
3 | g.122284450T>A | CA354160079 | CASR | c.2265T>A (p.Phe755Leu) c.2526T>A (p.Phe842Leu) c.2496T>A (p.Phe832Leu) c.2013T>A (p.Phe671Leu) c.1908T>A (p.Phe636Leu) | |
3 | g.122284450T>C | CA435425245 | CASR | c.2265T>C (p.Phe755=) c.2526T>C (p.Phe842=) c.2496T>C (p.Phe832=) c.2013T>C (p.Phe671=) c.1908T>C (p.Phe636=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284450T>G | CA354160080 | CASR | c.2265T>G (p.Phe755Leu) c.2526T>G (p.Phe842Leu) c.2496T>G (p.Phe832Leu) c.2013T>G (p.Phe671Leu) c.1908T>G (p.Phe636Leu) | |
3 | g.122284450T= | CA1397872402 | CASR | c.2265T= (p.Phe755=) c.2526T= (p.Phe842=) c.2496T= (p.Phe832=) c.2013T= (p.Phe671=) c.1908T= (p.Phe636=) | |
3 | g.122284451G>A | CA354160081 | CASR | c.2266G>A (p.Val756Ile) c.2527G>A (p.Val843Ile) c.2497G>A (p.Val833Ile) c.2014G>A (p.Val672Ile) c.1909G>A (p.Val637Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284451G>C | CA354160082 | CASR | c.2266G>C (p.Val756Leu) c.2527G>C (p.Val843Leu) c.2497G>C (p.Val833Leu) c.2014G>C (p.Val672Leu) c.1909G>C (p.Val637Leu) | ClinVar dbSNP |
3 | g.122284451G= | CA1397872404 | CASR | c.2266G= (p.Val756=) c.2527G= (p.Val843=) c.2497G= (p.Val833=) c.2014G= (p.Val672=) c.1909G= (p.Val637=) | |
3 | g.122284451G>T | CA354160083 | CASR | c.2266G>T (p.Val756Phe) c.2527G>T (p.Val843Phe) c.2497G>T (p.Val833Phe) c.2014G>T (p.Val672Phe) c.1909G>T (p.Val637Phe) | |
3 | g.122284452T>A | CA354160084 | CASR | c.2267T>A (p.Val756Asp) c.2528T>A (p.Val843Asp) c.2498T>A (p.Val833Asp) c.2015T>A (p.Val672Asp) c.1910T>A (p.Val637Asp) | |
3 | g.122284452T>C | CA354160085 | CASR | c.2267T>C (p.Val756Ala) c.2528T>C (p.Val843Ala) c.2498T>C (p.Val833Ala) c.2015T>C (p.Val672Ala) c.1910T>C (p.Val637Ala) | |
3 | g.122284452T>G | CA354160086 | CASR | c.2267T>G (p.Val756Gly) c.2528T>G (p.Val843Gly) c.2498T>G (p.Val833Gly) c.2015T>G (p.Val672Gly) c.1910T>G (p.Val637Gly) | |
3 | g.122284453C>A | CA435425251 | CASR | c.2268C>A (p.Val756=) c.2529C>A (p.Val843=) c.2499C>A (p.Val833=) c.2016C>A (p.Val672=) c.1911C>A (p.Val637=) | |
3 | g.122284453C= | CA1397872408 | CASR | c.2268C= (p.Val756=) c.2529C= (p.Val843=) c.2499C= (p.Val833=) c.2016C= (p.Val672=) c.1911C= (p.Val637=) | |
3 | g.122284453C>G | CA435425252 | CASR | c.2268C>G (p.Val756=) c.2529C>G (p.Val843=) c.2499C>G (p.Val833=) c.2016C>G (p.Val672=) c.1911C>G (p.Val637=) | ClinVar dbSNP |
3 | g.122284453C>T | CA435425253 | CASR | c.2268C>T (p.Val756=) c.2529C>T (p.Val843=) c.2499C>T (p.Val833=) c.2016C>T (p.Val672=) c.1911C>T (p.Val637=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284454T>A | CA354160087 | CASR | c.2269T>A (p.Ser757Thr) c.2530T>A (p.Ser844Thr) c.2500T>A (p.Ser834Thr) c.2017T>A (p.Ser673Thr) c.1912T>A (p.Ser638Thr) | |
3 | g.122284454T>C | CA354160088 | CASR | c.2269T>C (p.Ser757Pro) c.2530T>C (p.Ser844Pro) c.2500T>C (p.Ser834Pro) c.2017T>C (p.Ser673Pro) c.1912T>C (p.Ser638Pro) | |
3 | g.122284454T>G | CA354160089 | CASR | c.2269T>G (p.Ser757Ala) c.2530T>G (p.Ser844Ala) c.2500T>G (p.Ser834Ala) c.2017T>G (p.Ser673Ala) c.1912T>G (p.Ser638Ala) | |
3 | g.122284455del | CA2586972871 | CASR | c.2270del (p.Ser757LeufsTer3) c.2531del (p.Ser844LeufsTer3) c.2501del (p.Ser834LeufsTer3) c.2018del (p.Ser673LeufsTer3) c.1913del (p.Ser638LeufsTer3) | |
3 | g.122284455C>A | CA354160091 | CASR | c.2270C>A (p.Ser757Tyr) c.2531C>A (p.Ser844Tyr) c.2501C>A (p.Ser834Tyr) c.2018C>A (p.Ser673Tyr) c.1913C>A (p.Ser638Tyr) | |
3 | g.122284455C= | CA1397872413 | CASR | c.2270C= (p.Ser757=) c.2531C= (p.Ser844=) c.2501C= (p.Ser834=) c.2018C= (p.Ser673=) c.1913C= (p.Ser638=) | |
3 | g.122284455C>G | CA354160092 | CASR | c.2270C>G (p.Ser757Cys) c.2531C>G (p.Ser844Cys) c.2501C>G (p.Ser834Cys) c.2018C>G (p.Ser673Cys) c.1913C>G (p.Ser638Cys) | |
3 | g.122284455C>T | CA354160090 | CASR | c.2270C>T (p.Ser757Phe) c.2531C>T (p.Ser844Phe) c.2501C>T (p.Ser834Phe) c.2018C>T (p.Ser673Phe) c.1913C>T (p.Ser638Phe) | ClinVar dbSNP |
3 | g.122284456T>A | CA435425260 | CASR | c.2271T>A (p.Ser757=) c.2532T>A (p.Ser844=) c.2502T>A (p.Ser834=) c.2019T>A (p.Ser673=) c.1914T>A (p.Ser638=) | |
3 | g.122284456T>C | CA435425262 | CASR | c.2271T>C (p.Ser757=) c.2532T>C (p.Ser844=) c.2502T>C (p.Ser834=) c.2019T>C (p.Ser673=) c.1914T>C (p.Ser638=) | |
3 | g.122284456T>G | CA435425263 | CASR | c.2271T>G (p.Ser757=) c.2532T>G (p.Ser844=) c.2502T>G (p.Ser834=) c.2019T>G (p.Ser673=) c.1914T>G (p.Ser638=) | |
3 | g.122284457G>A | CA354160093 | CASR | c.2272G>A (p.Ala758Thr) c.2533G>A (p.Ala845Thr) c.2503G>A (p.Ala835Thr) c.2020G>A (p.Ala674Thr) c.1915G>A (p.Ala639Thr) | ClinVar dbSNP |
3 | g.122284457G>C | CA354160094 | CASR | c.2272G>C (p.Ala758Pro) c.2533G>C (p.Ala845Pro) c.2503G>C (p.Ala835Pro) c.2020G>C (p.Ala674Pro) c.1915G>C (p.Ala639Pro) | ClinVar dbSNP |
3 | g.122284457G= | CA1397872417 | CASR | c.2272G= (p.Ala758=) c.2533G= (p.Ala845=) c.2503G= (p.Ala835=) c.2020G= (p.Ala674=) c.1915G= (p.Ala639=) | |
3 | g.122284457G>T | CA354160095 | CASR | c.2272G>T (p.Ala758Ser) c.2533G>T (p.Ala845Ser) c.2503G>T (p.Ala835Ser) c.2020G>T (p.Ala674Ser) c.1915G>T (p.Ala639Ser) | |
3 | g.122284458C>A | CA354160096 | CASR | c.2273C>A (p.Ala758Asp) c.2534C>A (p.Ala845Asp) c.2504C>A (p.Ala835Asp) c.2021C>A (p.Ala674Asp) c.1916C>A (p.Ala639Asp) | |
3 | g.122284458C>G | CA354160097 | CASR | c.2273C>G (p.Ala758Gly) c.2534C>G (p.Ala845Gly) c.2504C>G (p.Ala835Gly) c.2021C>G (p.Ala674Gly) c.1916C>G (p.Ala639Gly) | |
3 | g.122284458C>T | CA354160098 | CASR | c.2273C>T (p.Ala758Val) c.2534C>T (p.Ala845Val) c.2504C>T (p.Ala835Val) c.2021C>T (p.Ala674Val) c.1916C>T (p.Ala639Val) | |
3 | g.122284459C>A | CA435425271 | CASR | c.2274C>A (p.Ala758=) c.2535C>A (p.Ala845=) c.2505C>A (p.Ala835=) c.2022C>A (p.Ala674=) c.1917C>A (p.Ala639=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284459C= | CA1397872423 | CASR | c.2274C= (p.Ala758=) c.2535C= (p.Ala845=) c.2505C= (p.Ala835=) c.2022C= (p.Ala674=) c.1917C= (p.Ala639=) | |
3 | g.122284459C>G | CA435425273 | CASR | c.2274C>G (p.Ala758=) c.2535C>G (p.Ala845=) c.2505C>G (p.Ala835=) c.2022C>G (p.Ala674=) c.1917C>G (p.Ala639=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284459C>T | CA435425275 | CASR | c.2274C>T (p.Ala758=) c.2535C>T (p.Ala845=) c.2505C>T (p.Ala835=) c.2022C>T (p.Ala674=) c.1917C>T (p.Ala639=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284460G>A | CA354160099 | CASR | c.2275G>A (p.Val759Ile) c.2536G>A (p.Val846Ile) c.2506G>A (p.Val836Ile) c.2023G>A (p.Val675Ile) c.1918G>A (p.Val640Ile) | ClinVar dbSNP COSMIC |
3 | g.122284460G>C | CA354160100 | CASR | c.2275G>C (p.Val759Leu) c.2536G>C (p.Val846Leu) c.2506G>C (p.Val836Leu) c.2023G>C (p.Val675Leu) c.1918G>C (p.Val640Leu) | ClinVar dbSNP |
3 | g.122284460G>T | CA354160101 | CASR | c.2275G>T (p.Val759Leu) c.2536G>T (p.Val846Leu) c.2506G>T (p.Val836Leu) c.2023G>T (p.Val675Leu) c.1918G>T (p.Val640Leu) | ClinVar dbSNP |
3 | g.122284461T>A | CA354160102 | CASR | c.2276T>A (p.Val759Glu) c.2537T>A (p.Val846Glu) c.2507T>A (p.Val836Glu) c.2024T>A (p.Val675Glu) c.1919T>A (p.Val640Glu) | |
3 | g.122284461T>C | CA354160103 | CASR | c.2276T>C (p.Val759Ala) c.2537T>C (p.Val846Ala) c.2507T>C (p.Val836Ala) c.2024T>C (p.Val675Ala) c.1919T>C (p.Val640Ala) | |
3 | g.122284461T>G | CA354160104 | CASR | c.2276T>G (p.Val759Gly) c.2537T>G (p.Val846Gly) c.2507T>G (p.Val836Gly) c.2024T>G (p.Val675Gly) c.1919T>G (p.Val640Gly) | |
3 | g.122284462A>C | CA435425280 | CASR | c.2277A>C (p.Val759=) c.2538A>C (p.Val846=) c.2508A>C (p.Val836=) c.2025A>C (p.Val675=) c.1920A>C (p.Val640=) | |
3 | g.122284462A>G | CA435425281 | CASR | c.2277A>G (p.Val759=) c.2538A>G (p.Val846=) c.2508A>G (p.Val836=) c.2025A>G (p.Val675=) c.1920A>G (p.Val640=) | ClinVar dbSNP |
3 | g.122284462A>T | CA435425282 | CASR | c.2277A>T (p.Val759=) c.2538A>T (p.Val846=) c.2508A>T (p.Val836=) c.2025A>T (p.Val675=) c.1920A>T (p.Val640=) | |
3 | g.122284463G>A | CA354160106 | CASR | c.2278G>A (p.Glu760Lys) c.2539G>A (p.Glu847Lys) c.2509G>A (p.Glu837Lys) c.2026G>A (p.Glu676Lys) c.1921G>A (p.Glu641Lys) | ClinVar |
3 | g.122284463G>C | CA354160107 | CASR | c.2278G>C (p.Glu760Gln) c.2539G>C (p.Glu847Gln) c.2509G>C (p.Glu837Gln) c.2026G>C (p.Glu676Gln) c.1921G>C (p.Glu641Gln) | |
3 | g.122284463G>T | CA354160105 | CASR | c.2278G>T (p.Glu760Ter) c.2539G>T (p.Glu847Ter) c.2509G>T (p.Glu837Ter) c.2026G>T (p.Glu676Ter) c.1921G>T (p.Glu641Ter) | gnomAD v4 |
3 | g.122284464A>C | CA354160108 | CASR | c.2279A>C (p.Glu760Ala) c.2540A>C (p.Glu847Ala) c.2510A>C (p.Glu837Ala) c.2027A>C (p.Glu676Ala) c.1922A>C (p.Glu641Ala) | |
3 | g.122284464A>G | CA354160109 | CASR | c.2279A>G (p.Glu760Gly) c.2540A>G (p.Glu847Gly) c.2510A>G (p.Glu837Gly) c.2027A>G (p.Glu676Gly) c.1922A>G (p.Glu641Gly) | |
3 | g.122284464A>T | CA354160110 | CASR | c.2279A>T (p.Glu760Val) c.2540A>T (p.Glu847Val) c.2510A>T (p.Glu837Val) c.2027A>T (p.Glu676Val) c.1922A>T (p.Glu641Val) | |
3 | g.122284465G>A | CA435425285 | CASR | c.2280G>A (p.Glu760=) c.2541G>A (p.Glu847=) c.2511G>A (p.Glu837=) c.2028G>A (p.Glu676=) c.1923G>A (p.Glu641=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284465G>C | CA354160111 | CASR | c.2280G>C (p.Glu760Asp) c.2541G>C (p.Glu847Asp) c.2511G>C (p.Glu837Asp) c.2028G>C (p.Glu676Asp) c.1923G>C (p.Glu641Asp) | |
3 | g.122284465G>T | CA354160112 | CASR | c.2280G>T (p.Glu760Asp) c.2541G>T (p.Glu847Asp) c.2511G>T (p.Glu837Asp) c.2028G>T (p.Glu676Asp) c.1923G>T (p.Glu641Asp) | ClinVar |
3 | g.122284466G>A | CA354160115 | CASR | c.2281G>A (p.Val761Met) c.2542G>A (p.Val848Met) c.2512G>A (p.Val838Met) c.2029G>A (p.Val677Met) c.1924G>A (p.Val642Met) | |
3 | g.122284466G>C | CA354160114 | CASR | c.2281G>C (p.Val761Leu) c.2542G>C (p.Val848Leu) c.2512G>C (p.Val838Leu) c.2029G>C (p.Val677Leu) c.1924G>C (p.Val642Leu) | |
3 | g.122284466G>T | CA354160113 | CASR | c.2281G>T (p.Val761Leu) c.2542G>T (p.Val848Leu) c.2512G>T (p.Val838Leu) c.2029G>T (p.Val677Leu) c.1924G>T (p.Val642Leu) | |
3 | g.122284467T>A | CA354160116 | CASR | c.2282T>A (p.Val761Glu) c.2543T>A (p.Val848Glu) c.2513T>A (p.Val838Glu) c.2030T>A (p.Val677Glu) c.1925T>A (p.Val642Glu) | |
3 | g.122284467T>C | CA354160117 | CASR | c.2282T>C (p.Val761Ala) c.2543T>C (p.Val848Ala) c.2513T>C (p.Val838Ala) c.2030T>C (p.Val677Ala) c.1925T>C (p.Val642Ala) | ClinVar |
3 | g.122284467T>G | CA354160119 | CASR | c.2282T>G (p.Val761Gly) c.2543T>G (p.Val848Gly) c.2513T>G (p.Val838Gly) c.2030T>G (p.Val677Gly) c.1925T>G (p.Val642Gly) | |
3 | g.122284468G>A | CA435425292 | CASR | c.2283G>A (p.Val761=) c.2544G>A (p.Val848=) c.2514G>A (p.Val838=) c.2031G>A (p.Val677=) c.1926G>A (p.Val642=) | ClinVar dbSNP |
3 | g.122284468G>C | CA435425293 | CASR | c.2283G>C (p.Val761=) c.2544G>C (p.Val848=) c.2514G>C (p.Val838=) c.2031G>C (p.Val677=) c.1926G>C (p.Val642=) | |
3 | g.122284468G= | CA1397872425 | CASR | c.2283G= (p.Val761=) c.2544G= (p.Val848=) c.2514G= (p.Val838=) c.2031G= (p.Val677=) c.1926G= (p.Val642=) | |
3 | g.122284468G>T | CA435425294 | CASR | c.2283G>T (p.Val761=) c.2544G>T (p.Val848=) c.2514G>T (p.Val838=) c.2031G>T (p.Val677=) c.1926G>T (p.Val642=) | |
3 | g.122284469A>C | CA354160121 | CASR | c.2284A>C (p.Ile762Leu) c.2545A>C (p.Ile849Leu) c.2515A>C (p.Ile839Leu) c.2032A>C (p.Ile678Leu) c.1927A>C (p.Ile643Leu) | |
3 | g.122284469A>G | CA354160123 | CASR | c.2284A>G (p.Ile762Val) c.2545A>G (p.Ile849Val) c.2515A>G (p.Ile839Val) c.2032A>G (p.Ile678Val) c.1927A>G (p.Ile643Val) | |
3 | g.122284469A>T | CA354160125 | CASR | c.2284A>T (p.Ile762Phe) c.2545A>T (p.Ile849Phe) c.2515A>T (p.Ile839Phe) c.2032A>T (p.Ile678Phe) c.1927A>T (p.Ile643Phe) | |
3 | g.122284470T>A | CA354160132 | CASR | c.2285T>A (p.Ile762Asn) c.2546T>A (p.Ile849Asn) c.2516T>A (p.Ile839Asn) c.2033T>A (p.Ile678Asn) c.1928T>A (p.Ile643Asn) | ClinVar dbSNP |
3 | g.122284470T>C | CA354160129 | CASR | c.2285T>C (p.Ile762Thr) c.2546T>C (p.Ile849Thr) c.2516T>C (p.Ile839Thr) c.2033T>C (p.Ile678Thr) c.1928T>C (p.Ile643Thr) | ClinVar dbSNP |
3 | g.122284470T>G | CA354160128 | CASR | c.2285T>G (p.Ile762Ser) c.2546T>G (p.Ile849Ser) c.2516T>G (p.Ile839Ser) c.2033T>G (p.Ile678Ser) c.1928T>G (p.Ile643Ser) | |
3 | g.122284471T>A | CA435425300 | CASR | c.2286T>A (p.Ile762=) c.2547T>A (p.Ile849=) c.2517T>A (p.Ile839=) c.2034T>A (p.Ile678=) c.1929T>A (p.Ile643=) | |
3 | g.122284471T>C | CA435425301 | CASR | c.2286T>C (p.Ile762=) c.2547T>C (p.Ile849=) c.2517T>C (p.Ile839=) c.2034T>C (p.Ile678=) c.1929T>C (p.Ile643=) | |
3 | g.122284471T>G | CA354160133 | CASR | c.2286T>G (p.Ile762Met) c.2547T>G (p.Ile849Met) c.2517T>G (p.Ile839Met) c.2034T>G (p.Ile678Met) c.1929T>G (p.Ile643Met) | |
3 | g.122284472del | CA2740094575 | CASR | c.2287del (p.Ala763ProfsTer?) c.2548del (p.Ala850ProfsTer?) c.2518del (p.Ala840ProfsTer?) c.2035del (p.Ala679ProfsTer?) c.1930del (p.Ala644ProfsTer?) | ClinVar |
3 | g.122284472G>A | CA354160137 | CASR | c.2287G>A (p.Ala763Thr) c.2548G>A (p.Ala850Thr) c.2518G>A (p.Ala840Thr) c.2035G>A (p.Ala679Thr) c.1930G>A (p.Ala644Thr) | |
3 | g.122284472G>C | CA354160135 | CASR | c.2287G>C (p.Ala763Pro) c.2548G>C (p.Ala850Pro) c.2518G>C (p.Ala840Pro) c.2035G>C (p.Ala679Pro) c.1930G>C (p.Ala644Pro) | |
3 | g.122284472G>T | CA354160139 | CASR | c.2287G>T (p.Ala763Ser) c.2548G>T (p.Ala850Ser) c.2518G>T (p.Ala840Ser) c.2035G>T (p.Ala679Ser) c.1930G>T (p.Ala644Ser) | |
3 | g.122284473C>A | CA354160141 | CASR | c.2288C>A (p.Ala763Asp) c.2549C>A (p.Ala850Asp) c.2519C>A (p.Ala840Asp) c.2036C>A (p.Ala679Asp) c.1931C>A (p.Ala644Asp) | |
3 | g.122284473C= | CA1397872429 | CASR | c.2288C= (p.Ala763=) c.2549C= (p.Ala850=) c.2519C= (p.Ala840=) c.2036C= (p.Ala679=) c.1931C= (p.Ala644=) | |
3 | g.122284473C>G | CA354160145 | CASR | c.2288C>G (p.Ala763Gly) c.2549C>G (p.Ala850Gly) c.2519C>G (p.Ala840Gly) c.2036C>G (p.Ala679Gly) c.1931C>G (p.Ala644Gly) | |
3 | g.122284473C>T | CA354160143 | CASR | c.2288C>T (p.Ala763Val) c.2549C>T (p.Ala850Val) c.2519C>T (p.Ala840Val) c.2036C>T (p.Ala679Val) c.1931C>T (p.Ala644Val) | ClinVar dbSNP gnomAD v4 |
3 | g.122284474C>A | CA435425306 | CASR | c.2289C>A (p.Ala763=) c.2550C>A (p.Ala850=) c.2520C>A (p.Ala840=) c.2037C>A (p.Ala679=) c.1932C>A (p.Ala644=) | gnomAD v4 |
3 | g.122284474C>G | CA435425307 | CASR | c.2289C>G (p.Ala763=) c.2550C>G (p.Ala850=) c.2520C>G (p.Ala840=) c.2037C>G (p.Ala679=) c.1932C>G (p.Ala644=) | |
3 | g.122284474C>T | CA435425308 | CASR | c.2289C>T (p.Ala763=) c.2550C>T (p.Ala850=) c.2520C>T (p.Ala840=) c.2037C>T (p.Ala679=) c.1932C>T (p.Ala644=) | |
3 | g.122284475A= | CA1397872434 | CASR | c.2290A= (p.Ile764=) c.2551A= (p.Ile851=) c.2521A= (p.Ile841=) c.2038A= (p.Ile680=) c.1933A= (p.Ile645=) | |
3 | g.122284475A>C | CA354160146 | CASR | c.2290A>C (p.Ile764Leu) c.2551A>C (p.Ile851Leu) c.2521A>C (p.Ile841Leu) c.2038A>C (p.Ile680Leu) c.1933A>C (p.Ile645Leu) | |
3 | g.122284475A>G | CA354160150 | CASR | c.2290A>G (p.Ile764Val) c.2551A>G (p.Ile851Val) c.2521A>G (p.Ile841Val) c.2038A>G (p.Ile680Val) c.1933A>G (p.Ile645Val) | |
3 | g.122284475A>T | CA354160148 | CASR | c.2290A>T (p.Ile764Phe) c.2551A>T (p.Ile851Phe) c.2521A>T (p.Ile841Phe) c.2038A>T (p.Ile680Phe) c.1933A>T (p.Ile645Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284476T>A | CA354160152 | CASR | c.2291T>A (p.Ile764Asn) c.2552T>A (p.Ile851Asn) c.2522T>A (p.Ile841Asn) c.2039T>A (p.Ile680Asn) c.1934T>A (p.Ile645Asn) | |
3 | g.122284476T>C | CA354160155 | CASR | c.2291T>C (p.Ile764Thr) c.2552T>C (p.Ile851Thr) c.2522T>C (p.Ile841Thr) c.2039T>C (p.Ile680Thr) c.1934T>C (p.Ile645Thr) | |
3 | g.122284476T>G | CA354160153 | CASR | c.2291T>G (p.Ile764Ser) c.2552T>G (p.Ile851Ser) c.2522T>G (p.Ile841Ser) c.2039T>G (p.Ile680Ser) c.1934T>G (p.Ile645Ser) | |
3 | g.122284477C>A | CA435425311 | CASR | c.2292C>A (p.Ile764=) c.2553C>A (p.Ile851=) c.2523C>A (p.Ile841=) c.2040C>A (p.Ile680=) c.1935C>A (p.Ile645=) | |
3 | g.122284477C>G | CA354160157 | CASR | c.2292C>G (p.Ile764Met) c.2553C>G (p.Ile851Met) c.2523C>G (p.Ile841Met) c.2040C>G (p.Ile680Met) c.1935C>G (p.Ile645Met) | |
3 | g.122284477C>T | CA435425312 | CASR | c.2292C>T (p.Ile764=) c.2553C>T (p.Ile851=) c.2523C>T (p.Ile841=) c.2040C>T (p.Ile680=) c.1935C>T (p.Ile645=) | |
3 | g.122284478C>A | CA82749017 | CASR | c.2293C>A (p.Leu765Met) c.2554C>A (p.Leu852Met) c.2524C>A (p.Leu842Met) c.2041C>A (p.Leu681Met) c.1936C>A (p.Leu646Met) | ClinVar dbSNP |
3 | g.122284478C= | CA1397872437 | CASR | c.2293C= (p.Leu765=) c.2554C= (p.Leu852=) c.2524C= (p.Leu842=) c.2041C= (p.Leu681=) c.1936C= (p.Leu646=) | |
3 | g.122284478C>G | CA354160160 | CASR | c.2293C>G (p.Leu765Val) c.2554C>G (p.Leu852Val) c.2524C>G (p.Leu842Val) c.2041C>G (p.Leu681Val) c.1936C>G (p.Leu646Val) | |
3 | g.122284478C>T | CA435425313 | CASR | c.2293C>T (p.Leu765=) c.2554C>T (p.Leu852=) c.2524C>T (p.Leu842=) c.2041C>T (p.Leu681=) c.1936C>T (p.Leu646=) | |
3 | g.122284479T>A | CA354160163 | CASR | c.2294T>A (p.Leu765Gln) c.2555T>A (p.Leu852Gln) c.2525T>A (p.Leu842Gln) c.2042T>A (p.Leu681Gln) c.1937T>A (p.Leu646Gln) | |
3 | g.122284479T>C | CA354160164 | CASR | c.2294T>C (p.Leu765Pro) c.2555T>C (p.Leu852Pro) c.2525T>C (p.Leu842Pro) c.2042T>C (p.Leu681Pro) c.1937T>C (p.Leu646Pro) | ClinVar |
3 | g.122284479T>G | CA354160165 | CASR | c.2294T>G (p.Leu765Arg) c.2555T>G (p.Leu852Arg) c.2525T>G (p.Leu842Arg) c.2042T>G (p.Leu681Arg) c.1937T>G (p.Leu646Arg) | |
3 | g.122284480G>A | CA435425316 | CASR | c.2295G>A (p.Leu765=) c.2556G>A (p.Leu852=) c.2526G>A (p.Leu842=) c.2043G>A (p.Leu681=) c.1938G>A (p.Leu646=) | ClinVar dbSNP |
3 | g.122284480G>C | CA435425317 | CASR | c.2295G>C (p.Leu765=) c.2556G>C (p.Leu852=) c.2526G>C (p.Leu842=) c.2043G>C (p.Leu681=) c.1938G>C (p.Leu646=) | |
3 | g.122284480G= | CA1397872440 | CASR | c.2295G= (p.Leu765=) c.2556G= (p.Leu852=) c.2526G= (p.Leu842=) c.2043G= (p.Leu681=) c.1938G= (p.Leu646=) | |
3 | g.122284480G>T | CA435425318 | CASR | c.2295G>T (p.Leu765=) c.2556G>T (p.Leu852=) c.2526G>T (p.Leu842=) c.2043G>T (p.Leu681=) c.1938G>T (p.Leu646=) | ClinVar |
3 | g.122284481G>A | CA354160168 | CASR | c.2296G>A (p.Ala766Thr) c.2557G>A (p.Ala853Thr) c.2527G>A (p.Ala843Thr) c.2044G>A (p.Ala682Thr) c.1939G>A (p.Ala647Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284481G>C | CA354160170 | CASR | c.2296G>C (p.Ala766Pro) c.2557G>C (p.Ala853Pro) c.2527G>C (p.Ala843Pro) c.2044G>C (p.Ala682Pro) c.1939G>C (p.Ala647Pro) | gnomAD v4 |
3 | g.122284481G= | CA1397872443 | CASR | c.2296G= (p.Ala766=) c.2557G= (p.Ala853=) c.2527G= (p.Ala843=) c.2044G= (p.Ala682=) c.1939G= (p.Ala647=) | |
3 | g.122284481G>T | CA354160171 | CASR | c.2296G>T (p.Ala766Ser) c.2557G>T (p.Ala853Ser) c.2527G>T (p.Ala843Ser) c.2044G>T (p.Ala682Ser) c.1939G>T (p.Ala647Ser) | dbSNP |
3 | g.122284482C>A | CA119519 | CASR | c.2297C>A (p.Ala766Glu) c.2558C>A (p.Ala853Glu) c.2528C>A (p.Ala843Glu) c.2045C>A (p.Ala682Glu) c.1940C>A (p.Ala647Glu) | ClinVar dbSNP |
3 | g.122284482C= | CA1397872446 | CASR | c.2297C= (p.Ala766=) c.2558C= (p.Ala853=) c.2528C= (p.Ala843=) c.2045C= (p.Ala682=) c.1940C= (p.Ala647=) | |
3 | g.122284482C>G | CA354160174 | CASR | c.2297C>G (p.Ala766Gly) c.2558C>G (p.Ala853Gly) c.2528C>G (p.Ala843Gly) c.2045C>G (p.Ala682Gly) c.1940C>G (p.Ala647Gly) | |
3 | g.122284482C>T | CA354160176 | CASR | c.2297C>T (p.Ala766Val) c.2558C>T (p.Ala853Val) c.2528C>T (p.Ala843Val) c.2045C>T (p.Ala682Val) c.1940C>T (p.Ala647Val) | |
3 | g.122284483A>C | CA435425319 | CASR | c.2298A>C (p.Ala766=) c.2559A>C (p.Ala853=) c.2529A>C (p.Ala843=) c.2046A>C (p.Ala682=) c.1941A>C (p.Ala647=) | |
3 | g.122284483A>G | CA435425320 | CASR | c.2298A>G (p.Ala766=) c.2559A>G (p.Ala853=) c.2529A>G (p.Ala843=) c.2046A>G (p.Ala682=) c.1941A>G (p.Ala647=) | |
3 | g.122284483A>T | CA435425321 | CASR | c.2298A>T (p.Ala766=) c.2559A>T (p.Ala853=) c.2529A>T (p.Ala843=) c.2046A>T (p.Ala682=) c.1941A>T (p.Ala647=) | |
3 | g.122284484G>A | CA354160179 | CASR | c.2299G>A (p.Ala767Thr) c.2560G>A (p.Ala854Thr) c.2530G>A (p.Ala844Thr) c.2047G>A (p.Ala683Thr) c.1942G>A (p.Ala648Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284484G>C | CA354160182 | CASR | c.2299G>C (p.Ala767Pro) c.2560G>C (p.Ala854Pro) c.2530G>C (p.Ala844Pro) c.2047G>C (p.Ala683Pro) c.1942G>C (p.Ala648Pro) | |
3 | g.122284484G= | CA1397872452 | CASR | c.2299G= (p.Ala767=) c.2560G= (p.Ala854=) c.2530G= (p.Ala844=) c.2047G= (p.Ala683=) c.1942G= (p.Ala648=) | |
3 | g.122284484G>T | CA354160181 | CASR | c.2299G>T (p.Ala767Ser) c.2560G>T (p.Ala854Ser) c.2530G>T (p.Ala844Ser) c.2047G>T (p.Ala683Ser) c.1942G>T (p.Ala648Ser) | |
3 | g.122284484_122284504del | CA2667224655 | CASR | c.2299_2319del (p.Ala767_Ala773del) c.2560_2580del (p.Ala854_Ala860del) c.2530_2550del (p.Ala844_Ala850del) c.2047_2067del (p.Ala683_Ala689del) c.1942_1962del (p.Ala648_Ala654del) | gnomAD v4 |
3 | g.122284485C>A | CA354160185 | CASR | c.2300C>A (p.Ala767Asp) c.2561C>A (p.Ala854Asp) c.2531C>A (p.Ala844Asp) c.2048C>A (p.Ala683Asp) c.1943C>A (p.Ala648Asp) | |
3 | g.122284485C= | CA1397872454 | CASR | c.2300C= (p.Ala767=) c.2561C= (p.Ala854=) c.2531C= (p.Ala844=) c.2048C= (p.Ala683=) c.1943C= (p.Ala648=) | |
3 | g.122284485C>G | CA354160186 | CASR | c.2300C>G (p.Ala767Gly) c.2561C>G (p.Ala854Gly) c.2531C>G (p.Ala844Gly) c.2048C>G (p.Ala683Gly) c.1943C>G (p.Ala648Gly) | |
3 | g.122284485C>T | CA354160187 | CASR | c.2300C>T (p.Ala767Val) c.2561C>T (p.Ala854Val) c.2531C>T (p.Ala844Val) c.2048C>T (p.Ala683Val) c.1943C>T (p.Ala648Val) | ClinVar dbSNP |
3 | g.122284486C>A | CA435425322 | CASR | c.2301C>A (p.Ala767=) c.2562C>A (p.Ala854=) c.2532C>A (p.Ala844=) c.2049C>A (p.Ala683=) c.1944C>A (p.Ala648=) | |
3 | g.122284486C>G | CA435425323 | CASR | c.2301C>G (p.Ala767=) c.2562C>G (p.Ala854=) c.2532C>G (p.Ala844=) c.2049C>G (p.Ala683=) c.1944C>G (p.Ala648=) | |
3 | g.122284486C>T | CA435425324 | CASR | c.2301C>T (p.Ala767=) c.2562C>T (p.Ala854=) c.2532C>T (p.Ala844=) c.2049C>T (p.Ala683=) c.1944C>T (p.Ala648=) | |
3 | g.122284487_122284499del | CA2573136466 | CASR | c.2302_2314del (p.Ser768TrpfsTer?) c.2563_2575del (p.Ser855TrpfsTer?) c.2533_2545del (p.Ser845TrpfsTer?) c.2050_2062del (p.Ser684TrpfsTer?) c.1945_1957del (p.Ser649TrpfsTer?) | ClinVar dbSNP |
3 | g.122284487A= | CA1397872459 | CASR | c.2302A= (p.Ser768=) c.2563A= (p.Ser855=) c.2533A= (p.Ser845=) c.2050A= (p.Ser684=) c.1945A= (p.Ser649=) | |
3 | g.122284487A>C | CA354160190 | CASR | c.2302A>C (p.Ser768Arg) c.2563A>C (p.Ser855Arg) c.2533A>C (p.Ser845Arg) c.2050A>C (p.Ser684Arg) c.1945A>C (p.Ser649Arg) | ClinVar dbSNP |
3 | g.122284487A>G | CA354160191 | CASR | c.2302A>G (p.Ser768Gly) c.2563A>G (p.Ser855Gly) c.2533A>G (p.Ser845Gly) c.2050A>G (p.Ser684Gly) c.1945A>G (p.Ser649Gly) | |
3 | g.122284487A>T | CA354160192 | CASR | c.2302A>T (p.Ser768Cys) c.2563A>T (p.Ser855Cys) c.2533A>T (p.Ser845Cys) c.2050A>T (p.Ser684Cys) c.1945A>T (p.Ser649Cys) | |
3 | g.122284488G>A | CA354160195 | CASR | c.2303G>A (p.Ser768Asn) c.2564G>A (p.Ser855Asn) c.2534G>A (p.Ser845Asn) c.2051G>A (p.Ser684Asn) c.1946G>A (p.Ser649Asn) | ClinVar |
3 | g.122284488G>C | CA354160197 | CASR | c.2303G>C (p.Ser768Thr) c.2564G>C (p.Ser855Thr) c.2534G>C (p.Ser845Thr) c.2051G>C (p.Ser684Thr) c.1946G>C (p.Ser649Thr) | |
3 | g.122284488G>T | CA354160198 | CASR | c.2303G>T (p.Ser768Ile) c.2564G>T (p.Ser855Ile) c.2534G>T (p.Ser845Ile) c.2051G>T (p.Ser684Ile) c.1946G>T (p.Ser649Ile) | |
3 | g.122284489C>A | CA354160204 | CASR | c.2304C>A (p.Ser768Arg) c.2565C>A (p.Ser855Arg) c.2535C>A (p.Ser845Arg) c.2052C>A (p.Ser684Arg) c.1947C>A (p.Ser649Arg) | |
3 | g.122284489C= | CA1397872463 | CASR | c.2304C= (p.Ser768=) c.2565C= (p.Ser855=) c.2535C= (p.Ser845=) c.2052C= (p.Ser684=) c.1947C= (p.Ser649=) | |
3 | g.122284489C>G | CA354160201 | CASR | c.2304C>G (p.Ser768Arg) c.2565C>G (p.Ser855Arg) c.2535C>G (p.Ser845Arg) c.2052C>G (p.Ser684Arg) c.1947C>G (p.Ser649Arg) | |
3 | g.122284489C>T | CA2569830 | CASR | c.2304C>T (p.Ser768=) c.2565C>T (p.Ser855=) c.2535C>T (p.Ser845=) c.2052C>T (p.Ser684=) c.1947C>T (p.Ser649=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284490T>A | CA354160206 | CASR | c.2305T>A (p.Phe769Ile) c.2566T>A (p.Phe856Ile) c.2536T>A (p.Phe846Ile) c.2053T>A (p.Phe685Ile) c.1948T>A (p.Phe650Ile) | |
3 | g.122284490T>C | CA354160208 | CASR | c.2305T>C (p.Phe769Leu) c.2566T>C (p.Phe856Leu) c.2536T>C (p.Phe846Leu) c.2053T>C (p.Phe685Leu) c.1948T>C (p.Phe650Leu) | |
3 | g.122284490T>G | CA354160210 | CASR | c.2305T>G (p.Phe769Val) c.2566T>G (p.Phe856Val) c.2536T>G (p.Phe846Val) c.2053T>G (p.Phe685Val) c.1948T>G (p.Phe650Val) | |
3 | g.122284492del | CA2839833030 | CASR | c.2307del (p.Phe769LeufsTer?) c.2568del (p.Phe856LeufsTer?) c.2538del (p.Phe846LeufsTer?) c.2055del (p.Phe685LeufsTer?) c.1950del (p.Phe650LeufsTer?) | |
3 | g.122284491T>A | CA354160212 | CASR | c.2306T>A (p.Phe769Tyr) c.2567T>A (p.Phe856Tyr) c.2537T>A (p.Phe846Tyr) c.2054T>A (p.Phe685Tyr) c.1949T>A (p.Phe650Tyr) | |
3 | g.122284491T>C | CA354160213 | CASR | c.2306T>C (p.Phe769Ser) c.2567T>C (p.Phe856Ser) c.2537T>C (p.Phe846Ser) c.2054T>C (p.Phe685Ser) c.1949T>C (p.Phe650Ser) | gnomAD v4 |
3 | g.122284491T>G | CA354160215 | CASR | c.2306T>G (p.Phe769Cys) c.2567T>G (p.Phe856Cys) c.2537T>G (p.Phe846Cys) c.2054T>G (p.Phe685Cys) c.1949T>G (p.Phe650Cys) | |
3 | g.122284492T>A | CA354160217 | CASR | c.2307T>A (p.Phe769Leu) c.2568T>A (p.Phe856Leu) c.2538T>A (p.Phe846Leu) c.2055T>A (p.Phe685Leu) c.1950T>A (p.Phe650Leu) | |
3 | g.122284492T>C | CA435425325 | CASR | c.2307T>C (p.Phe769=) c.2568T>C (p.Phe856=) c.2538T>C (p.Phe846=) c.2055T>C (p.Phe685=) c.1950T>C (p.Phe650=) | |
3 | g.122284492T>G | CA354160218 | CASR | c.2307T>G (p.Phe769Leu) c.2568T>G (p.Phe856Leu) c.2538T>G (p.Phe846Leu) c.2055T>G (p.Phe685Leu) c.1950T>G (p.Phe650Leu) | |
3 | g.122284493G>A | CA354160221 | CASR | c.2308G>A (p.Gly770Ser) c.2569G>A (p.Gly857Ser) c.2539G>A (p.Gly847Ser) c.2056G>A (p.Gly686Ser) c.1951G>A (p.Gly651Ser) | ClinVar |
3 | g.122284493G>C | CA354160222 | CASR | c.2308G>C (p.Gly770Arg) c.2569G>C (p.Gly857Arg) c.2539G>C (p.Gly847Arg) c.2056G>C (p.Gly686Arg) c.1951G>C (p.Gly651Arg) | |
3 | g.122284493G>T | CA354160225 | CASR | c.2308G>T (p.Gly770Cys) c.2569G>T (p.Gly857Cys) c.2539G>T (p.Gly847Cys) c.2056G>T (p.Gly686Cys) c.1951G>T (p.Gly651Cys) | gnomAD v4 |
3 | g.122284494G>A | CA16617819 | CASR | c.2309G>A (p.Gly770Asp) c.2570G>A (p.Gly857Asp) c.2540G>A (p.Gly847Asp) c.2057G>A (p.Gly686Asp) c.1952G>A (p.Gly651Asp) | ClinVar dbSNP |
3 | g.122284494G>C | CA354160229 | CASR | c.2309G>C (p.Gly770Ala) c.2570G>C (p.Gly857Ala) c.2540G>C (p.Gly847Ala) c.2057G>C (p.Gly686Ala) c.1952G>C (p.Gly651Ala) | |
3 | g.122284494G= | CA1397872467 | CASR | c.2309G= (p.Gly770=) c.2570G= (p.Gly857=) c.2540G= (p.Gly847=) c.2057G= (p.Gly686=) c.1952G= (p.Gly651=) | |
3 | g.122284494G>T | CA354160227 | CASR | c.2309G>T (p.Gly770Val) c.2570G>T (p.Gly857Val) c.2540G>T (p.Gly847Val) c.2057G>T (p.Gly686Val) c.1952G>T (p.Gly651Val) | |
3 | g.122284495C>A | CA435425326 | CASR | c.2310C>A (p.Gly770=) c.2571C>A (p.Gly857=) c.2541C>A (p.Gly847=) c.2058C>A (p.Gly686=) c.1953C>A (p.Gly651=) | |
3 | g.122284495C>G | CA435425328 | CASR | c.2310C>G (p.Gly770=) c.2571C>G (p.Gly857=) c.2541C>G (p.Gly847=) c.2058C>G (p.Gly686=) c.1953C>G (p.Gly651=) | |
3 | g.122284495C>T | CA435425327 | CASR | c.2310C>T (p.Gly770=) c.2571C>T (p.Gly857=) c.2541C>T (p.Gly847=) c.2058C>T (p.Gly686=) c.1953C>T (p.Gly651=) | |
3 | g.122284496T>A | CA354160232 | CASR | c.2311T>A (p.Leu771Met) c.2572T>A (p.Leu858Met) c.2542T>A (p.Leu848Met) c.2059T>A (p.Leu687Met) c.1954T>A (p.Leu652Met) | |
3 | g.122284496T>C | CA435425329 | CASR | c.2311T>C (p.Leu771=) c.2572T>C (p.Leu858=) c.2542T>C (p.Leu848=) c.2059T>C (p.Leu687=) c.1954T>C (p.Leu652=) | |
3 | g.122284496T>G | CA354160234 | CASR | c.2311T>G (p.Leu771Val) c.2572T>G (p.Leu858Val) c.2542T>G (p.Leu848Val) c.2059T>G (p.Leu687Val) c.1954T>G (p.Leu652Val) | |
3 | g.122284497T>A | CA354160236 | CASR | c.2312T>A (p.Leu771Ter) c.2573T>A (p.Leu858Ter) c.2543T>A (p.Leu848Ter) c.2060T>A (p.Leu687Ter) c.1955T>A (p.Leu652Ter) | |
3 | g.122284497T>C | CA354160237 | CASR | c.2312T>C (p.Leu771Ser) c.2573T>C (p.Leu858Ser) c.2543T>C (p.Leu848Ser) c.2060T>C (p.Leu687Ser) c.1955T>C (p.Leu652Ser) | |
3 | g.122284497T>G | CA354160238 | CASR | c.2312T>G (p.Leu771Trp) c.2573T>G (p.Leu858Trp) c.2543T>G (p.Leu848Trp) c.2060T>G (p.Leu687Trp) c.1955T>G (p.Leu652Trp) | |
3 | g.122284498G>A | CA435425330 | CASR | c.2313G>A (p.Leu771=) c.2574G>A (p.Leu858=) c.2544G>A (p.Leu848=) c.2061G>A (p.Leu687=) c.1956G>A (p.Leu652=) | |
3 | g.122284498G>C | CA354160240 | CASR | c.2313G>C (p.Leu771Phe) c.2574G>C (p.Leu858Phe) c.2544G>C (p.Leu848Phe) c.2061G>C (p.Leu687Phe) c.1956G>C (p.Leu652Phe) | |
3 | g.122284498G>T | CA354160242 | CASR | c.2313G>T (p.Leu771Phe) c.2574G>T (p.Leu858Phe) c.2544G>T (p.Leu848Phe) c.2061G>T (p.Leu687Phe) c.1956G>T (p.Leu652Phe) | |
3 | g.122284499C>A | CA354160244 | CASR | c.2314C>A (p.Leu772Met) c.2575C>A (p.Leu859Met) c.2545C>A (p.Leu849Met) c.2062C>A (p.Leu688Met) c.1957C>A (p.Leu653Met) | |
3 | g.122284499C>G | CA354160246 | CASR | c.2314C>G (p.Leu772Val) c.2575C>G (p.Leu859Val) c.2545C>G (p.Leu849Val) c.2062C>G (p.Leu688Val) c.1957C>G (p.Leu653Val) | ClinVar |
3 | g.122284499C>T | CA435425331 | CASR | c.2314C>T (p.Leu772=) c.2575C>T (p.Leu859=) c.2545C>T (p.Leu849=) c.2062C>T (p.Leu688=) c.1957C>T (p.Leu653=) | ClinVar |
3 | g.122284500T>A | CA354160248 | CASR | c.2315T>A (p.Leu772Gln) c.2576T>A (p.Leu859Gln) c.2546T>A (p.Leu849Gln) c.2063T>A (p.Leu688Gln) c.1958T>A (p.Leu653Gln) | ClinVar gnomAD v4 |
3 | g.122284500T>C | CA354160250 | CASR | c.2315T>C (p.Leu772Pro) c.2576T>C (p.Leu859Pro) c.2546T>C (p.Leu849Pro) c.2063T>C (p.Leu688Pro) c.1958T>C (p.Leu653Pro) | ClinVar dbSNP |
3 | g.122284500T>G | CA354160251 | CASR | c.2315T>G (p.Leu772Arg) c.2576T>G (p.Leu859Arg) c.2546T>G (p.Leu849Arg) c.2063T>G (p.Leu688Arg) c.1958T>G (p.Leu653Arg) | |
3 | g.122284500T= | CA1397872472 | CASR | c.2315T= (p.Leu772=) c.2576T= (p.Leu859=) c.2546T= (p.Leu849=) c.2063T= (p.Leu688=) c.1958T= (p.Leu653=) | |
3 | g.122284501G>A | CA435425332 | CASR | c.2316G>A (p.Leu772=) c.2577G>A (p.Leu859=) c.2547G>A (p.Leu849=) c.2064G>A (p.Leu688=) c.1959G>A (p.Leu653=) | |
3 | g.122284501G>C | CA435425333 | CASR | c.2316G>C (p.Leu772=) c.2577G>C (p.Leu859=) c.2547G>C (p.Leu849=) c.2064G>C (p.Leu688=) c.1959G>C (p.Leu653=) | |
3 | g.122284501G>T | CA435425334 | CASR | c.2316G>T (p.Leu772=) c.2577G>T (p.Leu859=) c.2547G>T (p.Leu849=) c.2064G>T (p.Leu688=) c.1959G>T (p.Leu653=) | |
3 | g.122284502G>A | CA354160258 | CASR | c.2317G>A (p.Ala773Thr) c.2578G>A (p.Ala860Thr) c.2548G>A (p.Ala850Thr) c.2065G>A (p.Ala689Thr) c.1960G>A (p.Ala654Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284502G>C | CA354160256 | CASR | c.2317G>C (p.Ala773Pro) c.2578G>C (p.Ala860Pro) c.2548G>C (p.Ala850Pro) c.2065G>C (p.Ala689Pro) c.1960G>C (p.Ala654Pro) | |
3 | g.122284502G= | CA1397872480 | CASR | c.2317G= (p.Ala773=) c.2578G= (p.Ala860=) c.2548G= (p.Ala850=) c.2065G= (p.Ala689=) c.1960G= (p.Ala654=) | |
3 | g.122284502G>T | CA354160254 | CASR | c.2317G>T (p.Ala773Ser) c.2578G>T (p.Ala860Ser) c.2548G>T (p.Ala850Ser) c.2065G>T (p.Ala689Ser) c.1960G>T (p.Ala654Ser) | |
3 | g.122284503C>A | CA2569831 | CASR | c.2318C>A (p.Ala773Glu) c.2579C>A (p.Ala860Glu) c.2549C>A (p.Ala850Glu) c.2066C>A (p.Ala689Glu) c.1961C>A (p.Ala654Glu) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.122284503C= | CA1397872492 | CASR | c.2318C= (p.Ala773=) c.2579C= (p.Ala860=) c.2549C= (p.Ala850=) c.2066C= (p.Ala689=) c.1961C= (p.Ala654=) | |
3 | g.122284503C>G | CA354160262 | CASR | c.2318C>G (p.Ala773Gly) c.2579C>G (p.Ala860Gly) c.2549C>G (p.Ala850Gly) c.2066C>G (p.Ala689Gly) c.1961C>G (p.Ala654Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.122284503C>T | CA354160261 | CASR | c.2318C>T (p.Ala773Val) c.2579C>T (p.Ala860Val) c.2549C>T (p.Ala850Val) c.2066C>T (p.Ala689Val) c.1961C>T (p.Ala654Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284504G>A | CA82749034 | CASR | c.2319G>A (p.Ala773=) c.2580G>A (p.Ala860=) c.2550G>A (p.Ala850=) c.2067G>A (p.Ala689=) c.1962G>A (p.Ala654=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284504G>C | CA435425336 | CASR | c.2319G>C (p.Ala773=) c.2580G>C (p.Ala860=) c.2550G>C (p.Ala850=) c.2067G>C (p.Ala689=) c.1962G>C (p.Ala654=) | |
3 | g.122284504G= | CA1397872498 | CASR | c.2319G= (p.Ala773=) c.2580G= (p.Ala860=) c.2550G= (p.Ala850=) c.2067G= (p.Ala689=) c.1962G= (p.Ala654=) | |
3 | g.122284504G>T | CA435425335 | CASR | c.2319G>T (p.Ala773=) c.2580G>T (p.Ala860=) c.2550G>T (p.Ala850=) c.2067G>T (p.Ala689=) c.1962G>T (p.Ala654=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284504_122284505insCCAG | CA2586972872 | CASR | c.2319_2320insCCAG (p.Cys774ProfsTer?) c.2580_2581insCCAG (p.Cys861ProfsTer?) c.2550_2551insCCAG (p.Cys851ProfsTer?) c.2067_2068insCCAG (p.Cys690ProfsTer?) c.1962_1963insCCAG (p.Cys655ProfsTer?) | |
3 | g.122284505T>A | CA2569832 | CASR | c.2320T>A (p.Cys774Ser) c.2581T>A (p.Cys861Ser) c.2551T>A (p.Cys851Ser) c.2068T>A (p.Cys690Ser) c.1963T>A (p.Cys655Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284505T>C | CA354160265 | CASR | c.2320T>C (p.Cys774Arg) c.2581T>C (p.Cys861Arg) c.2551T>C (p.Cys851Arg) c.2068T>C (p.Cys690Arg) c.1963T>C (p.Cys655Arg) | |
3 | g.122284505T>G | CA354160266 | CASR | c.2320T>G (p.Cys774Gly) c.2581T>G (p.Cys861Gly) c.2551T>G (p.Cys851Gly) c.2068T>G (p.Cys690Gly) c.1963T>G (p.Cys655Gly) | COSMIC |
3 | g.122284505T= | CA1397872505 | CASR | c.2320T= (p.Cys774=) c.2581T= (p.Cys861=) c.2551T= (p.Cys851=) c.2068T= (p.Cys690=) c.1963T= (p.Cys655=) | |
3 | g.122284506G>A | CA354160267 | CASR | c.2321G>A (p.Cys774Tyr) c.2582G>A (p.Cys861Tyr) c.2552G>A (p.Cys851Tyr) c.2069G>A (p.Cys690Tyr) c.1964G>A (p.Cys655Tyr) | |
3 | g.122284506G>C | CA354160268 | CASR | c.2321G>C (p.Cys774Ser) c.2582G>C (p.Cys861Ser) c.2552G>C (p.Cys851Ser) c.2069G>C (p.Cys690Ser) c.1964G>C (p.Cys655Ser) | ClinVar dbSNP |
3 | g.122284506G>T | CA354160269 | CASR | c.2321G>T (p.Cys774Phe) c.2582G>T (p.Cys861Phe) c.2552G>T (p.Cys851Phe) c.2069G>T (p.Cys690Phe) c.1964G>T (p.Cys655Phe) | |
3 | g.122284507C>A | CA354160270 | CASR | c.2322C>A (p.Cys774Ter) c.2583C>A (p.Cys861Ter) c.2553C>A (p.Cys851Ter) c.2070C>A (p.Cys690Ter) c.1965C>A (p.Cys655Ter) | |
3 | g.122284507C>G | CA354160271 | CASR | c.2322C>G (p.Cys774Trp) c.2583C>G (p.Cys861Trp) c.2553C>G (p.Cys851Trp) c.2070C>G (p.Cys690Trp) c.1965C>G (p.Cys655Trp) | ClinVar |
3 | g.122284507C>T | CA435425337 | CASR | c.2322C>T (p.Cys774=) c.2583C>T (p.Cys861=) c.2553C>T (p.Cys851=) c.2070C>T (p.Cys690=) c.1965C>T (p.Cys655=) | |
3 | g.122284508A>C | CA354160272 | CASR | c.2323A>C (p.Ile775Leu) c.2584A>C (p.Ile862Leu) c.2554A>C (p.Ile852Leu) c.2071A>C (p.Ile691Leu) c.1966A>C (p.Ile656Leu) | gnomAD v4 |
3 | g.122284508A>G | CA354160273 | CASR | c.2323A>G (p.Ile775Val) c.2584A>G (p.Ile862Val) c.2554A>G (p.Ile852Val) c.2071A>G (p.Ile691Val) c.1966A>G (p.Ile656Val) | |
3 | g.122284508A>T | CA354160274 | CASR | c.2323A>T (p.Ile775Phe) c.2584A>T (p.Ile862Phe) c.2554A>T (p.Ile852Phe) c.2071A>T (p.Ile691Phe) c.1966A>T (p.Ile656Phe) | |
3 | g.122284509T>A | CA354160275 | CASR | c.2324T>A (p.Ile775Asn) c.2585T>A (p.Ile862Asn) c.2555T>A (p.Ile852Asn) c.2072T>A (p.Ile691Asn) c.1967T>A (p.Ile656Asn) | |
3 | g.122284509T>C | CA354160277 | CASR | c.2324T>C (p.Ile775Thr) c.2585T>C (p.Ile862Thr) c.2555T>C (p.Ile852Thr) c.2072T>C (p.Ile691Thr) c.1967T>C (p.Ile656Thr) | |
3 | g.122284509T>G | CA354160276 | CASR | c.2324T>G (p.Ile775Ser) c.2585T>G (p.Ile862Ser) c.2555T>G (p.Ile852Ser) c.2072T>G (p.Ile691Ser) c.1967T>G (p.Ile656Ser) | |
3 | g.122284510C>A | CA435425338 | CASR | c.2325C>A (p.Ile775=) c.2586C>A (p.Ile862=) c.2556C>A (p.Ile852=) c.2073C>A (p.Ile691=) c.1968C>A (p.Ile656=) | |
3 | g.122284510C= | CA1397872509 | CASR | c.2325C= (p.Ile775=) c.2586C= (p.Ile862=) c.2556C= (p.Ile852=) c.2073C= (p.Ile691=) c.1968C= (p.Ile656=) | |
3 | g.122284510C>G | CA354160278 | CASR | c.2325C>G (p.Ile775Met) c.2586C>G (p.Ile862Met) c.2556C>G (p.Ile852Met) c.2073C>G (p.Ile691Met) c.1968C>G (p.Ile656Met) | |
3 | g.122284510C>T | CA435425339 | CASR | c.2325C>T (p.Ile775=) c.2586C>T (p.Ile862=) c.2556C>T (p.Ile852=) c.2073C>T (p.Ile691=) c.1968C>T (p.Ile656=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284511T>A | CA354160279 | CASR | c.2326T>A (p.Phe776Ile) c.2587T>A (p.Phe863Ile) c.2557T>A (p.Phe853Ile) c.2074T>A (p.Phe692Ile) c.1969T>A (p.Phe657Ile) | |
3 | g.122284511T>C | CA354160280 | CASR | c.2326T>C (p.Phe776Leu) c.2587T>C (p.Phe863Leu) c.2557T>C (p.Phe853Leu) c.2074T>C (p.Phe692Leu) c.1969T>C (p.Phe657Leu) | |
3 | g.122284511T>G | CA354160281 | CASR | c.2326T>G (p.Phe776Val) c.2587T>G (p.Phe863Val) c.2557T>G (p.Phe853Val) c.2074T>G (p.Phe692Val) c.1969T>G (p.Phe657Val) | ClinVar dbSNP |
3 | g.122284511T= | CA1397872514 | CASR | c.2326T= (p.Phe776=) c.2587T= (p.Phe863=) c.2557T= (p.Phe853=) c.2074T= (p.Phe692=) c.1969T= (p.Phe657=) | |
3 | g.122284512T>A | CA354160282 | CASR | c.2327T>A (p.Phe776Tyr) c.2588T>A (p.Phe863Tyr) c.2558T>A (p.Phe853Tyr) c.2075T>A (p.Phe692Tyr) c.1970T>A (p.Phe657Tyr) | |
3 | g.122284512T>C | CA354160283 | CASR | c.2327T>C (p.Phe776Ser) c.2588T>C (p.Phe863Ser) c.2558T>C (p.Phe853Ser) c.2075T>C (p.Phe692Ser) c.1970T>C (p.Phe657Ser) | |
3 | g.122284512T>G | CA354160284 | CASR | c.2327T>G (p.Phe776Cys) c.2588T>G (p.Phe863Cys) c.2558T>G (p.Phe853Cys) c.2075T>G (p.Phe692Cys) c.1970T>G (p.Phe657Cys) | |
3 | g.122284513C>A | CA354160285 | CASR | c.2328C>A (p.Phe776Leu) c.2589C>A (p.Phe863Leu) c.2559C>A (p.Phe853Leu) c.2076C>A (p.Phe692Leu) c.1971C>A (p.Phe657Leu) | |
3 | g.122284513C= | CA1397872521 | CASR | c.2328C= (p.Phe776=) c.2589C= (p.Phe863=) c.2559C= (p.Phe853=) c.2076C= (p.Phe692=) c.1971C= (p.Phe657=) | |
3 | g.122284513C>G | CA354160286 | CASR | c.2328C>G (p.Phe776Leu) c.2589C>G (p.Phe863Leu) c.2559C>G (p.Phe853Leu) c.2076C>G (p.Phe692Leu) c.1971C>G (p.Phe657Leu) | ClinVar dbSNP |
3 | g.122284513C>T | CA435425340 | CASR | c.2328C>T (p.Phe776=) c.2589C>T (p.Phe863=) c.2559C>T (p.Phe853=) c.2076C>T (p.Phe692=) c.1971C>T (p.Phe657=) | |
3 | g.122284514T>A | CA354160288 | CASR | c.2329T>A (p.Phe777Ile) c.2590T>A (p.Phe864Ile) c.2560T>A (p.Phe854Ile) c.2077T>A (p.Phe693Ile) c.1972T>A (p.Phe658Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.122284514T>C | CA82749042 | CASR | c.2329T>C (p.Phe777Leu) c.2590T>C (p.Phe864Leu) c.2560T>C (p.Phe854Leu) c.2077T>C (p.Phe693Leu) c.1972T>C (p.Phe658Leu) | dbSNP gnomAD v4 |
3 | g.122284514T>G | CA354160287 | CASR | c.2329T>G (p.Phe777Val) c.2590T>G (p.Phe864Val) c.2560T>G (p.Phe854Val) c.2077T>G (p.Phe693Val) c.1972T>G (p.Phe658Val) | gnomAD v4 |
3 | g.122284514T= | CA1397872530 | CASR | c.2329T= (p.Phe777=) c.2590T= (p.Phe864=) c.2560T= (p.Phe854=) c.2077T= (p.Phe693=) c.1972T= (p.Phe658=) | |
3 | g.122284515T>A | CA354160289 | CASR | c.2330T>A (p.Phe777Tyr) c.2591T>A (p.Phe864Tyr) c.2561T>A (p.Phe854Tyr) c.2078T>A (p.Phe693Tyr) c.1973T>A (p.Phe658Tyr) | |
3 | g.122284515T>C | CA354160290 | CASR | c.2330T>C (p.Phe777Ser) c.2591T>C (p.Phe864Ser) c.2561T>C (p.Phe854Ser) c.2078T>C (p.Phe693Ser) c.1973T>C (p.Phe658Ser) | |
3 | g.122284515T>G | CA354160291 | CASR | c.2330T>G (p.Phe777Cys) c.2591T>G (p.Phe864Cys) c.2561T>G (p.Phe854Cys) c.2078T>G (p.Phe693Cys) c.1973T>G (p.Phe658Cys) | |
3 | g.122284516del | CA2840613153 | CASR | c.2331del (p.Phe777LeufsTer?) c.2592del (p.Phe864LeufsTer?) c.2562del (p.Phe854LeufsTer?) c.2079del (p.Phe693LeufsTer?) c.1974del (p.Phe658LeufsTer?) | |
3 | g.122284516C>A | CA354160292 | CASR | c.2331C>A (p.Phe777Leu) c.2592C>A (p.Phe864Leu) c.2562C>A (p.Phe854Leu) c.2079C>A (p.Phe693Leu) c.1974C>A (p.Phe658Leu) | |
3 | g.122284516C>G | CA354160293 | CASR | c.2331C>G (p.Phe777Leu) c.2592C>G (p.Phe864Leu) c.2562C>G (p.Phe854Leu) c.2079C>G (p.Phe693Leu) c.1974C>G (p.Phe658Leu) | |
3 | g.122284516C>T | CA435425341 | CASR | c.2331C>T (p.Phe777=) c.2592C>T (p.Phe864=) c.2562C>T (p.Phe854=) c.2079C>T (p.Phe693=) c.1974C>T (p.Phe658=) | |
3 | g.122284517A= | CA1397872536 | CASR | c.2332A= (p.Asn778=) c.2593A= (p.Asn865=) c.2563A= (p.Asn855=) c.2080A= (p.Asn694=) c.1975A= (p.Asn659=) | |
3 | g.122284517A>C | CA354160296 | CASR | c.2332A>C (p.Asn778His) c.2593A>C (p.Asn865His) c.2563A>C (p.Asn855His) c.2080A>C (p.Asn694His) c.1975A>C (p.Asn659His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284517A>G | CA354160295 | CASR | c.2332A>G (p.Asn778Asp) c.2593A>G (p.Asn865Asp) c.2563A>G (p.Asn855Asp) c.2080A>G (p.Asn694Asp) c.1975A>G (p.Asn659Asp) | |
3 | g.122284517A>T | CA354160294 | CASR | c.2332A>T (p.Asn778Tyr) c.2593A>T (p.Asn865Tyr) c.2563A>T (p.Asn855Tyr) c.2080A>T (p.Asn694Tyr) c.1975A>T (p.Asn659Tyr) | |
3 | g.122284518A= | CA1397872540 | CASR | c.2333A= (p.Asn778=) c.2594A= (p.Asn865=) c.2564A= (p.Asn855=) c.2081A= (p.Asn694=) c.1976A= (p.Asn659=) | |
3 | g.122284518A>C | CA354160297 | CASR | c.2333A>C (p.Asn778Thr) c.2594A>C (p.Asn865Thr) c.2564A>C (p.Asn855Thr) c.2081A>C (p.Asn694Thr) c.1976A>C (p.Asn659Thr) | |
3 | g.122284518A>G | CA354160298 | CASR | c.2333A>G (p.Asn778Ser) c.2594A>G (p.Asn865Ser) c.2564A>G (p.Asn855Ser) c.2081A>G (p.Asn694Ser) c.1976A>G (p.Asn659Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122284518A>T | CA354160299 | CASR | c.2333A>T (p.Asn778Ile) c.2594A>T (p.Asn865Ile) c.2564A>T (p.Asn855Ile) c.2081A>T (p.Asn694Ile) c.1976A>T (p.Asn659Ile) | |
3 | g.122284519C>A | CA354160300 | CASR | c.2334C>A (p.Asn778Lys) c.2595C>A (p.Asn865Lys) c.2565C>A (p.Asn855Lys) c.2082C>A (p.Asn694Lys) c.1977C>A (p.Asn659Lys) | |
3 | g.122284519C= | CA1397872545 | CASR | c.2334C= (p.Asn778=) c.2595C= (p.Asn865=) c.2565C= (p.Asn855=) c.2082C= (p.Asn694=) c.1977C= (p.Asn659=) | |
3 | g.122284519C>G | CA354160301 | CASR | c.2334C>G (p.Asn778Lys) c.2595C>G (p.Asn865Lys) c.2565C>G (p.Asn855Lys) c.2082C>G (p.Asn694Lys) c.1977C>G (p.Asn659Lys) | ClinVar |
3 | g.122284519C>T | CA2569833 | CASR | c.2334C>T (p.Asn778=) c.2595C>T (p.Asn865=) c.2565C>T (p.Asn855=) c.2082C>T (p.Asn694=) c.1977C>T (p.Asn659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284520A>C | CA354160302 | CASR | c.2335A>C (p.Lys779Gln) c.2596A>C (p.Lys866Gln) c.2566A>C (p.Lys856Gln) c.2083A>C (p.Lys695Gln) c.1978A>C (p.Lys660Gln) | |
3 | g.122284520A>G | CA354160304 | CASR | c.2335A>G (p.Lys779Glu) c.2596A>G (p.Lys866Glu) c.2566A>G (p.Lys856Glu) c.2083A>G (p.Lys695Glu) c.1978A>G (p.Lys660Glu) | |
3 | g.122284520A>T | CA354160303 | CASR | c.2335A>T (p.Lys779Ter) c.2596A>T (p.Lys866Ter) c.2566A>T (p.Lys856Ter) c.2083A>T (p.Lys695Ter) c.1978A>T (p.Lys660Ter) | |
3 | g.122284521_122284527del | CA2586972873 | CASR | c.2336_2342del (p.Lys779ThrfsTer?) c.2597_2603del (p.Lys866ThrfsTer?) c.2567_2573del (p.Lys856ThrfsTer?) c.2084_2090del (p.Lys695ThrfsTer?) c.1979_1985del (p.Lys660ThrfsTer?) | |
3 | g.122284521A>C | CA354160305 | CASR | c.2336A>C (p.Lys779Thr) c.2597A>C (p.Lys866Thr) c.2567A>C (p.Lys856Thr) c.2084A>C (p.Lys695Thr) c.1979A>C (p.Lys660Thr) | |
3 | g.122284521A>G | CA354160306 | CASR | c.2336A>G (p.Lys779Arg) c.2597A>G (p.Lys866Arg) c.2567A>G (p.Lys856Arg) c.2084A>G (p.Lys695Arg) c.1979A>G (p.Lys660Arg) | |
3 | g.122284521A>T | CA354160307 | CASR | c.2336A>T (p.Lys779Met) c.2597A>T (p.Lys866Met) c.2567A>T (p.Lys856Met) c.2084A>T (p.Lys695Met) c.1979A>T (p.Lys660Met) | |
3 | g.122284522G>A | CA82749062 | CASR | c.2337G>A (p.Lys779=) c.2598G>A (p.Lys866=) c.2568G>A (p.Lys856=) c.2085G>A (p.Lys695=) c.1980G>A (p.Lys660=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284522G>C | CA354160308 | CASR | c.2337G>C (p.Lys779Asn) c.2598G>C (p.Lys866Asn) c.2568G>C (p.Lys856Asn) c.2085G>C (p.Lys695Asn) c.1980G>C (p.Lys660Asn) | |
3 | g.122284522G= | CA1397872549 | CASR | c.2337G= (p.Lys779=) c.2598G= (p.Lys866=) c.2568G= (p.Lys856=) c.2085G= (p.Lys695=) c.1980G= (p.Lys660=) | |
3 | g.122284522G>T | CA354160309 | CASR | c.2337G>T (p.Lys779Asn) c.2598G>T (p.Lys866Asn) c.2568G>T (p.Lys856Asn) c.2085G>T (p.Lys695Asn) c.1980G>T (p.Lys660Asn) | |
3 | g.122284523A>C | CA354160310 | CASR | c.2338A>C (p.Ile780Leu) c.2599A>C (p.Ile867Leu) c.2569A>C (p.Ile857Leu) c.2086A>C (p.Ile696Leu) c.1981A>C (p.Ile661Leu) | |
3 | g.122284523A>G | CA354160311 | CASR | c.2338A>G (p.Ile780Val) c.2599A>G (p.Ile867Val) c.2569A>G (p.Ile857Val) c.2086A>G (p.Ile696Val) c.1981A>G (p.Ile661Val) | |
3 | g.122284523A>T | CA354160312 | CASR | c.2338A>T (p.Ile780Phe) c.2599A>T (p.Ile867Phe) c.2569A>T (p.Ile857Phe) c.2086A>T (p.Ile696Phe) c.1981A>T (p.Ile661Phe) | ClinVar |
3 | g.122284524T>A | CA354160313 | CASR | c.2339T>A (p.Ile780Asn) c.2600T>A (p.Ile867Asn) c.2570T>A (p.Ile857Asn) c.2087T>A (p.Ile696Asn) c.1982T>A (p.Ile661Asn) | ClinVar dbSNP |
3 | g.122284524T>C | CA2569834 | CASR | c.2339T>C (p.Ile780Thr) c.2600T>C (p.Ile867Thr) c.2570T>C (p.Ile857Thr) c.2087T>C (p.Ile696Thr) c.1982T>C (p.Ile661Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284524T>G | CA354160314 | CASR | c.2339T>G (p.Ile780Ser) c.2600T>G (p.Ile867Ser) c.2570T>G (p.Ile857Ser) c.2087T>G (p.Ile696Ser) c.1982T>G (p.Ile661Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122284524T= | CA1397872553 | CASR | c.2339T= (p.Ile780=) c.2600T= (p.Ile867=) c.2570T= (p.Ile857=) c.2087T= (p.Ile696=) c.1982T= (p.Ile661=) | |
3 | g.122284525C>A | CA435425343 | CASR | c.2340C>A (p.Ile780=) c.2601C>A (p.Ile867=) c.2571C>A (p.Ile857=) c.2088C>A (p.Ile696=) c.1983C>A (p.Ile661=) | |
3 | g.122284525C= | CA1397872562 | CASR | c.2340C= (p.Ile780=) c.2601C= (p.Ile867=) c.2571C= (p.Ile857=) c.2088C= (p.Ile696=) c.1983C= (p.Ile661=) | |
3 | g.122284525C>G | CA354160315 | CASR | c.2340C>G (p.Ile780Met) c.2601C>G (p.Ile867Met) c.2571C>G (p.Ile857Met) c.2088C>G (p.Ile696Met) c.1983C>G (p.Ile661Met) | |
3 | g.122284525C>T | CA435425342 | CASR | c.2340C>T (p.Ile780=) c.2601C>T (p.Ile867=) c.2571C>T (p.Ile857=) c.2088C>T (p.Ile696=) c.1983C>T (p.Ile661=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284526T>A | CA354160317 | CASR | c.2341T>A (p.Tyr781Asn) c.2602T>A (p.Tyr868Asn) c.2572T>A (p.Tyr858Asn) c.2089T>A (p.Tyr697Asn) c.1984T>A (p.Tyr662Asn) | |
3 | g.122284526T>C | CA354160316 | CASR | c.2341T>C (p.Tyr781His) c.2602T>C (p.Tyr868His) c.2572T>C (p.Tyr858His) c.2089T>C (p.Tyr697His) c.1984T>C (p.Tyr662His) | |
3 | g.122284526T>G | CA2569835 | CASR | c.2341T>G (p.Tyr781Asp) c.2602T>G (p.Tyr868Asp) c.2572T>G (p.Tyr858Asp) c.2089T>G (p.Tyr697Asp) c.1984T>G (p.Tyr662Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284526T= | CA1397872565 | CASR | c.2341T= (p.Tyr781=) c.2602T= (p.Tyr868=) c.2572T= (p.Tyr858=) c.2089T= (p.Tyr697=) c.1984T= (p.Tyr662=) | |
3 | g.122284527A>C | CA354160318 | CASR | c.2342A>C (p.Tyr781Ser) c.2603A>C (p.Tyr868Ser) c.2573A>C (p.Tyr858Ser) c.2090A>C (p.Tyr697Ser) c.1985A>C (p.Tyr662Ser) | |
3 | g.122284527A>G | CA354160319 | CASR | c.2342A>G (p.Tyr781Cys) c.2603A>G (p.Tyr868Cys) c.2573A>G (p.Tyr858Cys) c.2090A>G (p.Tyr697Cys) c.1985A>G (p.Tyr662Cys) | |
3 | g.122284527A>T | CA354160320 | CASR | c.2342A>T (p.Tyr781Phe) c.2603A>T (p.Tyr868Phe) c.2573A>T (p.Tyr858Phe) c.2090A>T (p.Tyr697Phe) c.1985A>T (p.Tyr662Phe) | |
3 | g.122284528C>A | CA354160321 | CASR | c.2343C>A (p.Tyr781Ter) c.2604C>A (p.Tyr868Ter) c.2574C>A (p.Tyr858Ter) c.2091C>A (p.Tyr697Ter) c.1986C>A (p.Tyr662Ter) | |
3 | g.122284528C>G | CA354160322 | CASR | c.2343C>G (p.Tyr781Ter) c.2604C>G (p.Tyr868Ter) c.2574C>G (p.Tyr858Ter) c.2091C>G (p.Tyr697Ter) c.1986C>G (p.Tyr662Ter) | gnomAD v4 |
3 | g.122284528C>T | CA435425344 | CASR | c.2343C>T (p.Tyr781=) c.2604C>T (p.Tyr868=) c.2574C>T (p.Tyr858=) c.2091C>T (p.Tyr697=) c.1986C>T (p.Tyr662=) | |
3 | g.122284529A= | CA1397872569 | CASR | c.2344A= (p.Ile782=) c.2605A= (p.Ile869=) c.2575A= (p.Ile859=) c.2092A= (p.Ile698=) c.1987A= (p.Ile663=) | |
3 | g.122284529A>C | CA354160323 | CASR | c.2344A>C (p.Ile782Leu) c.2605A>C (p.Ile869Leu) c.2575A>C (p.Ile859Leu) c.2092A>C (p.Ile698Leu) c.1987A>C (p.Ile663Leu) | ClinVar dbSNP |
3 | g.122284529A>G | CA354160325 | CASR | c.2344A>G (p.Ile782Val) c.2605A>G (p.Ile869Val) c.2575A>G (p.Ile859Val) c.2092A>G (p.Ile698Val) c.1987A>G (p.Ile663Val) | ClinVar |
3 | g.122284529A>T | CA354160324 | CASR | c.2344A>T (p.Ile782Phe) c.2605A>T (p.Ile869Phe) c.2575A>T (p.Ile859Phe) c.2092A>T (p.Ile698Phe) c.1987A>T (p.Ile663Phe) | |
3 | g.122284530T>A | CA354160326 | CASR | c.2345T>A (p.Ile782Asn) c.2606T>A (p.Ile869Asn) c.2576T>A (p.Ile859Asn) c.2093T>A (p.Ile698Asn) c.1988T>A (p.Ile663Asn) | ClinVar dbSNP |
3 | g.122284530T>C | CA354160327 | CASR | c.2345T>C (p.Ile782Thr) c.2606T>C (p.Ile869Thr) c.2576T>C (p.Ile859Thr) c.2093T>C (p.Ile698Thr) c.1988T>C (p.Ile663Thr) | ClinVar |
3 | g.122284530T>G | CA354160328 | CASR | c.2345T>G (p.Ile782Ser) c.2606T>G (p.Ile869Ser) c.2576T>G (p.Ile859Ser) c.2093T>G (p.Ile698Ser) c.1988T>G (p.Ile663Ser) | |
3 | g.122284531C>A | CA435425345 | CASR | c.2346C>A (p.Ile782=) c.2607C>A (p.Ile869=) c.2577C>A (p.Ile859=) c.2094C>A (p.Ile698=) c.1989C>A (p.Ile663=) | |
3 | g.122284531C>G | CA354160329 | CASR | c.2346C>G (p.Ile782Met) c.2607C>G (p.Ile869Met) c.2577C>G (p.Ile859Met) c.2094C>G (p.Ile698Met) c.1989C>G (p.Ile663Met) | |
3 | g.122284531C>T | CA435425346 | CASR | c.2346C>T (p.Ile782=) c.2607C>T (p.Ile869=) c.2577C>T (p.Ile859=) c.2094C>T (p.Ile698=) c.1989C>T (p.Ile663=) | |
3 | g.122284532A>C | CA354160332 | CASR | c.2347A>C (p.Ile783Leu) c.2608A>C (p.Ile870Leu) c.2578A>C (p.Ile860Leu) c.2095A>C (p.Ile699Leu) c.1990A>C (p.Ile664Leu) | |
3 | g.122284532A>G | CA354160330 | CASR | c.2347A>G (p.Ile783Val) c.2608A>G (p.Ile870Val) c.2578A>G (p.Ile860Val) c.2095A>G (p.Ile699Val) c.1990A>G (p.Ile664Val) | |
3 | g.122284532A>T | CA354160331 | CASR | c.2347A>T (p.Ile783Phe) c.2608A>T (p.Ile870Phe) c.2578A>T (p.Ile860Phe) c.2095A>T (p.Ile699Phe) c.1990A>T (p.Ile664Phe) | |
3 | g.122284533T>A | CA354160333 | CASR | c.2348T>A (p.Ile783Asn) c.2609T>A (p.Ile870Asn) c.2579T>A (p.Ile860Asn) c.2096T>A (p.Ile699Asn) c.1991T>A (p.Ile664Asn) | |
3 | g.122284533T>C | CA354160334 | CASR | c.2348T>C (p.Ile783Thr) c.2609T>C (p.Ile870Thr) c.2579T>C (p.Ile860Thr) c.2096T>C (p.Ile699Thr) c.1991T>C (p.Ile664Thr) | |
3 | g.122284533T>G | CA354160335 | CASR | c.2348T>G (p.Ile783Ser) c.2609T>G (p.Ile870Ser) c.2579T>G (p.Ile860Ser) c.2096T>G (p.Ile699Ser) c.1991T>G (p.Ile664Ser) | |
3 | g.122284534T>A | CA435425347 | CASR | c.2349T>A (p.Ile783=) c.2610T>A (p.Ile870=) c.2580T>A (p.Ile860=) c.2097T>A (p.Ile699=) c.1992T>A (p.Ile664=) | |
3 | g.122284534T>C | CA435425348 | CASR | c.2349T>C (p.Ile783=) c.2610T>C (p.Ile870=) c.2580T>C (p.Ile860=) c.2097T>C (p.Ile699=) c.1992T>C (p.Ile664=) | |
3 | g.122284534T>G | CA354160336 | CASR | c.2349T>G (p.Ile783Met) c.2610T>G (p.Ile870Met) c.2580T>G (p.Ile860Met) c.2097T>G (p.Ile699Met) c.1992T>G (p.Ile664Met) | |
3 | g.122284535C>A | CA354160337 | CASR | c.2350C>A (p.Leu784Ile) c.2611C>A (p.Leu871Ile) c.2581C>A (p.Leu861Ile) c.2098C>A (p.Leu700Ile) c.1993C>A (p.Leu665Ile) | |
3 | g.122284535C= | CA1397872575 | CASR | c.2350C= (p.Leu784=) c.2611C= (p.Leu871=) c.2581C= (p.Leu861=) c.2098C= (p.Leu700=) c.1993C= (p.Leu665=) | |
3 | g.122284535C>G | CA354160338 | CASR | c.2350C>G (p.Leu784Val) c.2611C>G (p.Leu871Val) c.2581C>G (p.Leu861Val) c.2098C>G (p.Leu700Val) c.1993C>G (p.Leu665Val) | ClinVar dbSNP gnomAD v4 |
3 | g.122284535C>T | CA354160339 | CASR | c.2350C>T (p.Leu784Phe) c.2611C>T (p.Leu871Phe) c.2581C>T (p.Leu861Phe) c.2098C>T (p.Leu700Phe) c.1993C>T (p.Leu665Phe) | |
3 | g.122284536T>A | CA354160340 | CASR | c.2351T>A (p.Leu784His) c.2612T>A (p.Leu871His) c.2582T>A (p.Leu861His) c.2099T>A (p.Leu700His) c.1994T>A (p.Leu665His) | ClinVar |
3 | g.122284536T>C | CA354160341 | CASR | c.2351T>C (p.Leu784Pro) c.2612T>C (p.Leu871Pro) c.2582T>C (p.Leu861Pro) c.2099T>C (p.Leu700Pro) c.1994T>C (p.Leu665Pro) | ClinVar |
3 | g.122284536T>G | CA354160342 | CASR | c.2351T>G (p.Leu784Arg) c.2612T>G (p.Leu871Arg) c.2582T>G (p.Leu861Arg) c.2099T>G (p.Leu700Arg) c.1994T>G (p.Leu665Arg) | |
3 | g.122284537C>A | CA435425349 | CASR | c.2352C>A (p.Leu784=) c.2613C>A (p.Leu871=) c.2583C>A (p.Leu861=) c.2100C>A (p.Leu700=) c.1995C>A (p.Leu665=) | |
3 | g.122284537C>G | CA435425350 | CASR | c.2352C>G (p.Leu784=) c.2613C>G (p.Leu871=) c.2583C>G (p.Leu861=) c.2100C>G (p.Leu700=) c.1995C>G (p.Leu665=) | |
3 | g.122284537C>T | CA435425351 | CASR | c.2352C>T (p.Leu784=) c.2613C>T (p.Leu871=) c.2583C>T (p.Leu861=) c.2100C>T (p.Leu700=) c.1995C>T (p.Leu665=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284538T>A | CA354160343 | CASR | c.2353T>A (p.Phe785Ile) c.2614T>A (p.Phe872Ile) c.2584T>A (p.Phe862Ile) c.2101T>A (p.Phe701Ile) c.1996T>A (p.Phe666Ile) | |
3 | g.122284538T>C | CA354160344 | CASR | c.2353T>C (p.Phe785Leu) c.2614T>C (p.Phe872Leu) c.2584T>C (p.Phe862Leu) c.2101T>C (p.Phe701Leu) c.1996T>C (p.Phe666Leu) | |
3 | g.122284538T>G | CA354160345 | CASR | c.2353T>G (p.Phe785Val) c.2614T>G (p.Phe872Val) c.2584T>G (p.Phe862Val) c.2101T>G (p.Phe701Val) c.1996T>G (p.Phe666Val) | |
3 | g.122284539T>A | CA354160347 | CASR | c.2354T>A (p.Phe785Tyr) c.2615T>A (p.Phe872Tyr) c.2585T>A (p.Phe862Tyr) c.2102T>A (p.Phe701Tyr) c.1997T>A (p.Phe666Tyr) | |
3 | g.122284539T>C | CA2569836 | CASR | c.2354T>C (p.Phe785Ser) c.2615T>C (p.Phe872Ser) c.2585T>C (p.Phe862Ser) c.2102T>C (p.Phe701Ser) c.1997T>C (p.Phe666Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284539T>G | CA354160346 | CASR | c.2354T>G (p.Phe785Cys) c.2615T>G (p.Phe872Cys) c.2585T>G (p.Phe862Cys) c.2102T>G (p.Phe701Cys) c.1997T>G (p.Phe666Cys) | |
3 | g.122284539T= | CA1397872582 | CASR | c.2354T= (p.Phe785=) c.2615T= (p.Phe872=) c.2585T= (p.Phe862=) c.2102T= (p.Phe701=) c.1997T= (p.Phe666=) | |
3 | g.122284540C>A | CA354160348 | CASR | c.2355C>A (p.Phe785Leu) c.2616C>A (p.Phe872Leu) c.2586C>A (p.Phe862Leu) c.2103C>A (p.Phe701Leu) c.1998C>A (p.Phe666Leu) | |
3 | g.122284540C>G | CA354160349 | CASR | c.2355C>G (p.Phe785Leu) c.2616C>G (p.Phe872Leu) c.2586C>G (p.Phe862Leu) c.2103C>G (p.Phe701Leu) c.1998C>G (p.Phe666Leu) | |
3 | g.122284540C>T | CA435425352 | CASR | c.2355C>T (p.Phe785=) c.2616C>T (p.Phe872=) c.2586C>T (p.Phe862=) c.2103C>T (p.Phe701=) c.1998C>T (p.Phe666=) | dbSNP |
3 | g.122284541A>C | CA354160350 | CASR | c.2356A>C (p.Lys786Gln) c.2617A>C (p.Lys873Gln) c.2587A>C (p.Lys863Gln) c.2104A>C (p.Lys702Gln) c.1999A>C (p.Lys667Gln) | |
3 | g.122284541A>G | CA354160351 | CASR | c.2356A>G (p.Lys786Glu) c.2617A>G (p.Lys873Glu) c.2587A>G (p.Lys863Glu) c.2104A>G (p.Lys702Glu) c.1999A>G (p.Lys667Glu) | |
3 | g.122284541A>T | CA354160352 | CASR | c.2356A>T (p.Lys786Ter) c.2617A>T (p.Lys873Ter) c.2587A>T (p.Lys863Ter) c.2104A>T (p.Lys702Ter) c.1999A>T (p.Lys667Ter) | |
3 | g.122284542A>C | CA354160353 | CASR | c.2357A>C (p.Lys786Thr) c.2618A>C (p.Lys873Thr) c.2588A>C (p.Lys863Thr) c.2105A>C (p.Lys702Thr) c.2000A>C (p.Lys667Thr) | |
3 | g.122284542A>G | CA354160354 | CASR | c.2357A>G (p.Lys786Arg) c.2618A>G (p.Lys873Arg) c.2588A>G (p.Lys863Arg) c.2105A>G (p.Lys702Arg) c.2000A>G (p.Lys667Arg) | |
3 | g.122284542A>T | CA354160355 | CASR | c.2357A>T (p.Lys786Met) c.2618A>T (p.Lys873Met) c.2588A>T (p.Lys863Met) c.2105A>T (p.Lys702Met) c.2000A>T (p.Lys667Met) |