Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.150926405C>A | CA900656502 | CLRN1 | c.*447G>T (n.*447G>T) c.104+15177G>T c.162+15177G>T n.2542G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926405C= | CA1410882474 | CLRN1 | c.*447G= (n.*447G=) c.104+15177G= c.162+15177G= n.2542G= | |
3 | g.150926405C>G | CA11382729 | CLRN1 | c.*447G>C (n.*447G>C) c.104+15177G>C c.162+15177G>C n.2542G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926405C>T | CA2581916023 | CLRN1 | c.*447G>A (n.*447G>A) c.104+15177G>A c.162+15177G>A n.2542G>A | |
3 | g.150926406C>A | CA2668196679 | CLRN1 | c.*446G>T (n.*446G>T) c.104+15176G>T c.162+15176G>T n.2541G>T | gnomAD v4 |
3 | g.150926407A>G | CA2668196680 | CLRN1 | c.*445T>C (n.*445T>C) c.104+15175T>C c.162+15175T>C n.2540T>C | gnomAD v4 |
3 | g.150926409T>G | CA2668196681 | CLRN1 | c.*443A>C (n.*443A>C) c.104+15173A>C c.162+15173A>C n.2538A>C | gnomAD v4 |
3 | g.150926410C>A | CA2668196682 | CLRN1 | c.*442G>T (n.*442G>T) c.104+15172G>T c.162+15172G>T n.2537G>T | gnomAD v4 |
3 | g.150926411A>G | CA2668196683 | CLRN1 | c.*441T>C (n.*441T>C) c.104+15171T>C c.162+15171T>C n.2536T>C | gnomAD v4 |
3 | g.150926412T>A | CA2668196684 | CLRN1 | c.*440A>T (n.*440A>T) c.104+15170A>T c.162+15170A>T n.2535A>T | gnomAD v4 |
3 | g.150926412T>C | CA2668196685 | CLRN1 | c.*440A>G (n.*440A>G) c.104+15170A>G c.162+15170A>G n.2535A>G | gnomAD v4 |
3 | g.150926414T>C | CA2668196686 | CLRN1 | c.*438A>G (n.*438A>G) c.104+15168A>G c.162+15168A>G n.2533A>G | gnomAD v4 |
3 | g.150926415C>A | CA2668196687 | CLRN1 | c.*437G>T (n.*437G>T) c.104+15167G>T c.162+15167G>T n.2532G>T | gnomAD v4 |
3 | g.150926416C>A | CA2563383226 | CLRN1 | c.*436G>T (n.*436G>T) c.104+15166G>T c.162+15166G>T n.2531G>T | gnomAD v4 |
3 | g.150926417A= | CA1410882475 | CLRN1 | c.*435T= (n.*435T=) c.104+15165T= c.162+15165T= n.2530T= | |
3 | g.150926417A>G | CA85679193 | CLRN1 | c.*435T>C (n.*435T>C) c.104+15165T>C c.162+15165T>C n.2530T>C | dbSNP gnomAD v4 |
3 | g.150926418G>A | CA2668196688 | CLRN1 | c.*434C>T (n.*434C>T) c.104+15164C>T c.162+15164C>T n.2529C>T | gnomAD v4 |
3 | g.150926419T>C | CA2704213855 | CLRN1 | c.*433A>G (n.*433A>G) c.104+15163A>G c.162+15163A>G n.2528A>G | dbSNP |
3 | g.150926419T>G | CA2668196689 | CLRN1 | c.*433A>C (n.*433A>C) c.104+15163A>C c.162+15163A>C n.2528A>C | gnomAD v4 |
3 | g.150926420G>T | CA2668196690 | CLRN1 | c.*432C>A (n.*432C>A) c.104+15162C>A c.162+15162C>A n.2527C>A | gnomAD v4 |
3 | g.150926421C>A | CA2668196692 | CLRN1 | c.*431G>T (n.*431G>T) c.104+15161G>T c.162+15161G>T n.2526G>T | gnomAD v4 |
3 | g.150926421C>G | CA2668196693 | CLRN1 | c.*431G>C (n.*431G>C) c.104+15161G>C c.162+15161G>C n.2526G>C | gnomAD v4 |
3 | g.150926421C>T | CA2668196691 | CLRN1 | c.*431G>A (n.*431G>A) c.104+15161G>A c.162+15161G>A n.2526G>A | gnomAD v4 |
3 | g.150926422T>C | CA546974203 | CLRN1 | c.*430A>G (n.*430A>G) c.104+15160A>G c.162+15160A>G n.2525A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926422T= | CA1410882476 | CLRN1 | c.*430A= (n.*430A=) c.104+15160A= c.162+15160A= n.2525A= | |
3 | g.150926423T>G | CA2668196694 | CLRN1 | c.*429A>C (n.*429A>C) c.104+15159A>C c.162+15159A>C n.2524A>C | gnomAD v4 |
3 | g.150926424T>A | CA2668196695 | CLRN1 | c.*428A>T (n.*428A>T) c.104+15158A>T c.162+15158A>T n.2523A>T | gnomAD v4 |
3 | g.150926424T>C | CA2668196696 | CLRN1 | c.*428A>G (n.*428A>G) c.104+15158A>G c.162+15158A>G n.2523A>G | gnomAD v4 |
3 | g.150926424T>G | CA2668196697 | CLRN1 | c.*428A>C (n.*428A>C) c.104+15158A>C c.162+15158A>C n.2523A>C | gnomAD v4 |
3 | g.150926425T>G | CA2668196698 | CLRN1 | c.*427A>C (n.*427A>C) c.104+15157A>C c.162+15157A>C n.2522A>C | gnomAD v4 |
3 | g.150926428A>C | CA2668196699 | CLRN1 | c.*424T>G (n.*424T>G) c.104+15154T>G c.162+15154T>G n.2519T>G | gnomAD v4 |
3 | g.150926428A>T | CA2668196700 | CLRN1 | c.*424T>A (n.*424T>A) c.104+15154T>A c.162+15154T>A n.2519T>A | gnomAD v4 |
3 | g.150926429C>A | CA2668196701 | CLRN1 | c.*423G>T (n.*423G>T) c.104+15153G>T c.162+15153G>T n.2518G>T | gnomAD v4 |
3 | g.150926429C= | CA1410882477 | CLRN1 | c.*423G= (n.*423G=) c.104+15153G= c.162+15153G= n.2518G= | |
3 | g.150926429C>G | CA85679194 | CLRN1 | c.*423G>C (n.*423G>C) c.104+15153G>C c.162+15153G>C n.2518G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926429C>T | CA2668196702 | CLRN1 | c.*423G>A (n.*423G>A) c.104+15153G>A c.162+15153G>A n.2518G>A | gnomAD v4 |
3 | g.150926430T>A | CA2668196703 | CLRN1 | c.*422A>T (n.*422A>T) c.104+15152A>T c.162+15152A>T n.2517A>T | gnomAD v4 |
3 | g.150926431G>A | CA2668196704 | CLRN1 | c.*421C>T (n.*421C>T) c.104+15151C>T c.162+15151C>T n.2516C>T | gnomAD v4 |
3 | g.150926431G>C | CA2758898304 | CLRN1 | c.*421C>G (n.*421C>G) c.104+15151C>G c.162+15151C>G n.2516C>G | |
3 | g.150926432G>T | CA2668196705 | CLRN1 | c.*420C>A (n.*420C>A) c.104+15150C>A c.162+15150C>A n.2515C>A | gnomAD v4 |
3 | g.150926433_150926434insAA | CA2556092596 | CLRN1 | c.*419_*420insTT (n.*419_*420insTT) c.104+15149_104+15150insTT c.162+15149_162+15150insTT n.2514_2515insTT | |
3 | g.150926434C>A | CA2668196706 | CLRN1 | c.*418G>T (n.*418G>T) c.104+15148G>T c.162+15148G>T n.2513G>T | gnomAD v4 |
3 | g.150926434C>T | CA2668196707 | CLRN1 | c.*418G>A (n.*418G>A) c.104+15148G>A c.162+15148G>A n.2513G>A | gnomAD v4 |
3 | g.150926434_150926435insATGGTGGGTTTGCCTCTTAGTTCCT | CA2517070222 | CLRN1 | c.*417_*418insAGGAACTAAGAGGCAAACCCACCAT (n.*417_*418insAGGAACTAAGAGGCAAACCCACCAT) c.104+15147_104+15148insAGGAACTAAGAGGCAAACCCACCAT c.162+15147_162+15148insAGGAACTAAGAGGCAAACCCACCAT n.2512_2513insAGGAACTAAGAGGCAAACCCACCAT | |
3 | g.150926435C>A | CA2668196708 | CLRN1 | c.*417G>T (n.*417G>T) c.104+15147G>T c.162+15147G>T n.2512G>T | gnomAD v4 |
3 | g.150926435C= | CA1410882478 | CLRN1 | c.*417G= (n.*417G=) c.104+15147G= c.162+15147G= n.2512G= | |
3 | g.150926435C>T | CA900656506 | CLRN1 | c.*417G>A (n.*417G>A) c.104+15147G>A c.162+15147G>A n.2512G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926436A>C | CA2668196709 | CLRN1 | c.*416T>G (n.*416T>G) c.104+15146T>G c.162+15146T>G n.2511T>G | gnomAD v4 |
3 | g.150926436A>T | CA2668196710 | CLRN1 | c.*416T>A (n.*416T>A) c.104+15146T>A c.162+15146T>A n.2511T>A | gnomAD v4 |
3 | g.150926437T>A | CA2668196711 | CLRN1 | c.*415A>T (n.*415A>T) c.104+15145A>T c.162+15145A>T n.2510A>T | gnomAD v4 |
3 | g.150926437T>C | CA2668196712 | CLRN1 | c.*415A>G (n.*415A>G) c.104+15145A>G c.162+15145A>G n.2510A>G | gnomAD v4 |
3 | g.150926437T>G | CA2668196713 | CLRN1 | c.*415A>C (n.*415A>C) c.104+15145A>C c.162+15145A>C n.2510A>C | gnomAD v4 |
3 | g.150926438T>A | CA2668196714 | CLRN1 | c.*414A>T (n.*414A>T) c.104+15144A>T c.162+15144A>T n.2509A>T | gnomAD v4 |
3 | g.150926438T>C | CA2668196715 | CLRN1 | c.*414A>G (n.*414A>G) c.104+15144A>G c.162+15144A>G n.2509A>G | gnomAD v4 |
3 | g.150926438T>G | CA2668196716 | CLRN1 | c.*414A>C (n.*414A>C) c.104+15144A>C c.162+15144A>C n.2509A>C | gnomAD v4 |
3 | g.150926439T>A | CA2668196717 | CLRN1 | c.*413A>T (n.*413A>T) c.104+15143A>T c.162+15143A>T n.2508A>T | gnomAD v4 |
3 | g.150926439T>C | CA2668196718 | CLRN1 | c.*413A>G (n.*413A>G) c.104+15143A>G c.162+15143A>G n.2508A>G | gnomAD v4 |
3 | g.150926439T>G | CA2668196719 | CLRN1 | c.*413A>C (n.*413A>C) c.104+15143A>C c.162+15143A>C n.2508A>C | gnomAD v4 |
3 | g.150926440C>A | CA2668196720 | CLRN1 | c.*412G>T (n.*412G>T) c.104+15142G>T c.162+15142G>T n.2507G>T | gnomAD v4 |
3 | g.150926440C>T | CA2668196721 | CLRN1 | c.*412G>A (n.*412G>A) c.104+15142G>A c.162+15142G>A n.2507G>A | gnomAD v4 |
3 | g.150926440_150926448del | CA2758898305 | CLRN1 | c.*404_*412del (n.*404_*412del) c.104+15134_104+15142del c.162+15134_162+15142del n.2499_2507del | |
3 | g.150926441A>G | CA2668196722 | CLRN1 | c.*411T>C (n.*411T>C) c.104+15141T>C c.162+15141T>C n.2506T>C | gnomAD v4 |
3 | g.150926441A>T | CA2668196723 | CLRN1 | c.*411T>A (n.*411T>A) c.104+15141T>A c.162+15141T>A n.2506T>A | gnomAD v4 |
3 | g.150926442G>A | CA2668196724 | CLRN1 | c.*410C>T (n.*410C>T) c.104+15140C>T c.162+15140C>T n.2505C>T | dbSNP gnomAD v4 |
3 | g.150926442G>T | CA2668196725 | CLRN1 | c.*410C>A (n.*410C>A) c.104+15140C>A c.162+15140C>A n.2505C>A | gnomAD v4 |
3 | g.150926442_150926443delinsGC | CA1410882479 | CLRN1 | c.*409_*410delinsGC (n.*409_*410delinsGC) c.104+15139_104+15140delinsGC c.162+15139_162+15140delinsGC n.2504_2505delinsGC | |
3 | g.150926443del | CA900656509 | CLRN1 | c.*409del (n.*409del) c.104+15139del c.162+15139del n.2504del | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926443C>A | CA2668196726 | CLRN1 | c.*409G>T (n.*409G>T) c.104+15139G>T c.162+15139G>T n.2504G>T | gnomAD v4 |
3 | g.150926443C= | CA1410882480 | CLRN1 | c.*409G= (n.*409G=) c.104+15139G= c.162+15139G= n.2504G= | |
3 | g.150926443C>T | CA85679195 | CLRN1 | c.*409G>A (n.*409G>A) c.104+15139G>A c.162+15139G>A n.2504G>A | dbSNP gnomAD v4 |
3 | g.150926443_150926444delinsCT | CA1410882481 | CLRN1 | c.*408_*409delinsAG (n.*408_*409delinsAG) c.104+15138_104+15139delinsAG c.162+15138_162+15139delinsAG n.2503_2504delinsAG | |
3 | g.150926443_150926446del | CA2758898306 | CLRN1 | c.*406_*409del (n.*406_*409del) c.104+15136_104+15139del c.162+15136_162+15139del n.2501_2504del | |
3 | g.150926444del | CA1410882482 | CLRN1 | c.*408del (n.*408del) c.104+15138del c.162+15138del n.2503del | dbSNP |
3 | g.150926444T>A | CA2668196727 | CLRN1 | c.*408A>T (n.*408A>T) c.104+15138A>T c.162+15138A>T n.2503A>T | gnomAD v4 |
3 | g.150926445A= | CA1410882483 | CLRN1 | c.*407T= (n.*407T=) c.104+15137T= c.162+15137T= n.2502T= | |
3 | g.150926445A>C | CA2668196729 | CLRN1 | c.*407T>G (n.*407T>G) c.104+15137T>G c.162+15137T>G n.2502T>G | gnomAD v4 |
3 | g.150926445A>G | CA2508621159 | CLRN1 | c.*407T>C (n.*407T>C) c.104+15137T>C c.162+15137T>C n.2502T>C | gnomAD v4 |
3 | g.150926445A>T | CA900656519 | CLRN1 | c.*407T>A (n.*407T>A) c.104+15137T>A c.162+15137T>A n.2502T>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926447del | CA2668196728 | CLRN1 | c.*407del (n.*407del) c.104+15137del c.162+15137del n.2502del | gnomAD v4 |
3 | g.150926446A= | CA1410882484 | CLRN1 | c.*406T= (n.*406T=) c.104+15136T= c.162+15136T= n.2501T= | |
3 | g.150926446A>C | CA2668196730 | CLRN1 | c.*406T>G (n.*406T>G) c.104+15136T>G c.162+15136T>G n.2501T>G | gnomAD v4 |
3 | g.150926446A>G | CA2668196731 | CLRN1 | c.*406T>C (n.*406T>C) c.104+15136T>C c.162+15136T>C n.2501T>C | gnomAD v4 |
3 | g.150926446A>T | CA2668196732 | CLRN1 | c.*406T>A (n.*406T>A) c.104+15136T>A c.162+15136T>A n.2501T>A | gnomAD v4 |
3 | g.150926447A>C | CA2668196735 | CLRN1 | c.*405T>G (n.*405T>G) c.104+15135T>G c.162+15135T>G n.2500T>G | gnomAD v4 |
3 | g.150926447A>G | CA2668196733 | CLRN1 | c.*405T>C (n.*405T>C) c.104+15135T>C c.162+15135T>C n.2500T>C | gnomAD v4 |
3 | g.150926447A>T | CA2668196734 | CLRN1 | c.*405T>A (n.*405T>A) c.104+15135T>A c.162+15135T>A n.2500T>A | gnomAD v4 |
3 | g.150926450_150926457dup | CA85679198 | CLRN1 | c.*398_*405dup (n.*398_*405dup) c.104+15128_104+15135dup c.162+15128_162+15135dup n.2493_2500dup | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926448G>C | CA2668196736 | CLRN1 | c.*404C>G (n.*404C>G) c.104+15134C>G c.162+15134C>G n.2499C>G | gnomAD v4 |
3 | g.150926448G>T | CA2668196737 | CLRN1 | c.*404C>A (n.*404C>A) c.104+15134C>A c.162+15134C>A n.2499C>A | gnomAD v4 |
3 | g.150926449A= | CA1410882485 | CLRN1 | c.*403T= (n.*403T=) c.104+15133T= c.162+15133T= n.2498T= | |
3 | g.150926449A>C | CA1054909550 | CLRN1 | c.*403T>G (n.*403T>G) c.104+15133T>G c.162+15133T>G n.2498T>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926449A>T | CA2668196738 | CLRN1 | c.*403T>A (n.*403T>A) c.104+15133T>A c.162+15133T>A n.2498T>A | gnomAD v4 |
3 | g.150926450C>A | CA1410882487 | CLRN1 | c.*402G>T (n.*402G>T) c.104+15132G>T c.162+15132G>T n.2497G>T | dbSNP gnomAD v4 |
3 | g.150926450C= | CA1410882486 | CLRN1 | c.*402G= (n.*402G=) c.104+15132G= c.162+15132G= n.2497G= | |
3 | g.150926451T>A | CA2758898307 | CLRN1 | c.*401A>T (n.*401A>T) c.104+15131A>T c.162+15131A>T n.2496A>T | |
3 | g.150926451T>G | CA1410882489 | CLRN1 | c.*401A>C (n.*401A>C) c.104+15131A>C c.162+15131A>C n.2496A>C | dbSNP gnomAD v4 |
3 | g.150926451T= | CA1410882488 | CLRN1 | c.*401A= (n.*401A=) c.104+15131A= c.162+15131A= n.2496A= | |
3 | g.150926452T>A | CA2668196739 | CLRN1 | c.*400A>T (n.*400A>T) c.104+15130A>T c.162+15130A>T n.2495A>T | gnomAD v4 |
3 | g.150926452T>G | CA2668196740 | CLRN1 | c.*400A>C (n.*400A>C) c.104+15130A>C c.162+15130A>C n.2495A>C | gnomAD v4 |
3 | g.150926452T= | CA1410882490 | CLRN1 | c.*400A= (n.*400A=) c.104+15130A= c.162+15130A= n.2495A= | |
3 | g.150926453A>G | CA2668196741 | CLRN1 | c.*399T>C (n.*399T>C) c.104+15129T>C c.162+15129T>C n.2494T>C | gnomAD v4 |
3 | g.150926453dup | CA1410882491 | CLRN1 | c.*399dup (n.*399dup) c.104+15129dup c.162+15129dup n.2494dup | dbSNP gnomAD v4 |
3 | g.150926454C>A | CA1054909551 | CLRN1 | c.*398G>T (n.*398G>T) c.104+15128G>T c.162+15128G>T n.2493G>T | gnomAD v3 gnomAD v4 |
3 | g.150926454C>T | CA2668196742 | CLRN1 | c.*398G>A (n.*398G>A) c.104+15128G>A c.162+15128G>A n.2493G>A | gnomAD v4 |
3 | g.150926455A>G | CA2668196743 | CLRN1 | c.*397T>C (n.*397T>C) c.104+15127T>C c.162+15127T>C n.2492T>C | gnomAD v4 |
3 | g.150926456G>A | CA1054909552 | CLRN1 | c.*396C>T (n.*396C>T) c.104+15126C>T c.162+15126C>T n.2491C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926456G= | CA1410882492 | CLRN1 | c.*396C= (n.*396C=) c.104+15126C= c.162+15126C= n.2491C= | |
3 | g.150926456G>T | CA2668196744 | CLRN1 | c.*396C>A (n.*396C>A) c.104+15126C>A c.162+15126C>A n.2491C>A | gnomAD v4 |
3 | g.150926457A>C | CA2668196745 | CLRN1 | c.*395T>G (n.*395T>G) c.104+15125T>G c.162+15125T>G n.2490T>G | gnomAD v4 |
3 | g.150926458A>C | CA2668196746 | CLRN1 | c.*394T>G (n.*394T>G) c.104+15124T>G c.162+15124T>G n.2489T>G | gnomAD v4 |
3 | g.150926458A>G | CA2668196747 | CLRN1 | c.*394T>C (n.*394T>C) c.104+15124T>C c.162+15124T>C n.2489T>C | gnomAD v4 |
3 | g.150926458_150926460del | CA2758898308 | CLRN1 | c.*392_*394del (n.*392_*394del) c.104+15122_104+15124del c.162+15122_162+15124del n.2487_2489del | |
3 | g.150926459C>A | CA2668196749 | CLRN1 | c.*393G>T (n.*393G>T) c.104+15123G>T c.162+15123G>T n.2488G>T | gnomAD v4 |
3 | g.150926460del | CA2668196748 | CLRN1 | c.*393del (n.*393del) c.104+15123del c.162+15123del n.2488del | gnomAD v4 |
3 | g.150926459_150926460insTA | CA2758898309 | CLRN1 | c.*392_*393insTA (n.*392_*393insTA) c.104+15122_104+15123insTA c.162+15122_162+15123insTA n.2487_2488insTA | |
3 | g.150926460C>A | CA1410882494 | CLRN1 | c.*392G>T (n.*392G>T) c.104+15122G>T c.162+15122G>T n.2487G>T | dbSNP |
3 | g.150926460C= | CA1410882493 | CLRN1 | c.*392G= (n.*392G=) c.104+15122G= c.162+15122G= n.2487G= | |
3 | g.150926460C>G | CA900656525 | CLRN1 | c.*392G>C (n.*392G>C) c.104+15122G>C c.162+15122G>C n.2487G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926460C>T | CA11513757 | CLRN1 | c.*392G>A (n.*392G>A) c.104+15122G>A c.162+15122G>A n.2487G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926461G>A | CA900656526 | CLRN1 | c.*391C>T (n.*391C>T) c.104+15121C>T c.162+15121C>T n.2486C>T | dbSNP gnomAD v4 |
3 | g.150926461G>C | CA85679209 | CLRN1 | c.*391C>G (n.*391C>G) c.104+15121C>G c.162+15121C>G n.2486C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926461G= | CA1410882495 | CLRN1 | c.*391C= (n.*391C=) c.104+15121C= c.162+15121C= n.2486C= | |
3 | g.150926461G>T | CA2668196750 | CLRN1 | c.*391C>A (n.*391C>A) c.104+15121C>A c.162+15121C>A n.2486C>A | gnomAD v4 |
3 | g.150926462_150926463del | CA2758898310 | CLRN1 | c.*390_*391del (n.*390_*391del) c.104+15120_104+15121del c.162+15120_162+15121del n.2485_2486del | |
3 | g.150926462G>A | CA2758898312 | CLRN1 | c.*390C>T (n.*390C>T) c.104+15120C>T c.162+15120C>T n.2485C>T | |
3 | g.150926462G>T | CA2668196751 | CLRN1 | c.*390C>A (n.*390C>A) c.104+15120C>A c.162+15120C>A n.2485C>A | gnomAD v4 |
3 | g.150926463G>A | CA648575853 | CLRN1 | c.*389C>T (n.*389C>T) c.104+15119C>T c.162+15119C>T n.2484C>T | gnomAD v4 COSMIC |
3 | g.150926463G>T | CA2668196752 | CLRN1 | c.*389C>A (n.*389C>A) c.104+15119C>A c.162+15119C>A n.2484C>A | gnomAD v4 |
3 | g.150926463_150926464delinsGC | CA1410882496 | CLRN1 | c.*388_*389delinsGC (n.*388_*389delinsGC) c.104+15118_104+15119delinsGC c.162+15118_162+15119delinsGC n.2483_2484delinsGC | |
3 | g.150926463_150926464insA | CA648575854 | CLRN1 | c.*388_*389insT (n.*388_*389insT) c.104+15118_104+15119insT c.162+15118_162+15119insT n.2483_2484insT | COSMIC |
3 | g.150926464del | CA546974204 | CLRN1 | c.*388del (n.*388del) c.104+15118del c.162+15118del n.2483del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926464C>A | CA2668196753 | CLRN1 | c.*388G>T (n.*388G>T) c.104+15118G>T c.162+15118G>T n.2483G>T | gnomAD v4 |
3 | g.150926464C>T | CA2668196754 | CLRN1 | c.*388G>A (n.*388G>A) c.104+15118G>A c.162+15118G>A n.2483G>A | gnomAD v4 |
3 | g.150926466C= | CA1410882497 | CLRN1 | c.*386G= (n.*386G=) c.104+15116G= c.162+15116G= n.2481G= | |
3 | g.150926466C>G | CA85679215 | CLRN1 | c.*386G>C (n.*386G>C) c.104+15116G>C c.162+15116G>C n.2481G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926466_150926467insACT | CA2758898313 | CLRN1 | c.*385_*386insAGT (n.*385_*386insAGT) c.104+15115_104+15116insAGT c.162+15115_162+15116insAGT n.2480_2481insAGT | |
3 | g.150926467T>A | CA2668196755 | CLRN1 | c.*385A>T (n.*385A>T) c.104+15115A>T c.162+15115A>T n.2480A>T | gnomAD v4 |
3 | g.150926468A>C | CA2668196756 | CLRN1 | c.*384T>G (n.*384T>G) c.104+15114T>G c.162+15114T>G n.2479T>G | gnomAD v4 |
3 | g.150926468A>G | CA2668196757 | CLRN1 | c.*384T>C (n.*384T>C) c.104+15114T>C c.162+15114T>C n.2479T>C | gnomAD v4 |
3 | g.150926468A>T | CA546974205 | CLRN1 | c.*384T>A (n.*384T>A) c.104+15114T>A c.162+15114T>A n.2479T>A | gnomAD v2 gnomAD v4 |
3 | g.150926469G>T | CA2668196758 | CLRN1 | c.*383C>A (n.*383C>A) c.104+15113C>A c.162+15113C>A n.2478C>A | gnomAD v4 |
3 | g.150926470C>A | CA2668196759 | CLRN1 | c.*382G>T (n.*382G>T) c.104+15112G>T c.162+15112G>T n.2477G>T | gnomAD v4 |
3 | g.150926470C>T | CA2559231200 | CLRN1 | c.*382G>A (n.*382G>A) c.104+15112G>A c.162+15112G>A n.2477G>A | |
3 | g.150926471C>A | CA900656533 | CLRN1 | c.*381G>T (n.*381G>T) c.104+15111G>T c.162+15111G>T n.2476G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926471C= | CA1410882498 | CLRN1 | c.*381G= (n.*381G=) c.104+15111G= c.162+15111G= n.2476G= | |
3 | g.150926471C>G | CA1410882499 | CLRN1 | c.*381G>C (n.*381G>C) c.104+15111G>C c.162+15111G>C n.2476G>C | dbSNP |
3 | g.150926471C>T | CA85679224 | CLRN1 | c.*381G>A (n.*381G>A) c.104+15111G>A c.162+15111G>A n.2476G>A | dbSNP gnomAD v4 |
3 | g.150926471_150926472insACA | CA2758898314 | CLRN1 | c.*380_*381insTGT (n.*380_*381insTGT) c.104+15110_104+15111insTGT c.162+15110_162+15111insTGT n.2475_2476insTGT | |
3 | g.150926472T>A | CA2668196760 | CLRN1 | c.*380A>T (n.*380A>T) c.104+15110A>T c.162+15110A>T n.2475A>T | gnomAD v4 |
3 | g.150926472T>C | CA546974206 | CLRN1 | c.*380A>G (n.*380A>G) c.104+15110A>G c.162+15110A>G n.2475A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926472T= | CA1410882500 | CLRN1 | c.*380A= (n.*380A=) c.104+15110A= c.162+15110A= n.2475A= | |
3 | g.150926472_150926473insA | CA2758898316 | CLRN1 | c.*379_*380insT (n.*379_*380insT) c.104+15109_104+15110insT c.162+15109_162+15110insT n.2474_2475insT | |
3 | g.150926473G>T | CA2668196761 | CLRN1 | c.*379C>A (n.*379C>A) c.104+15109C>A c.162+15109C>A n.2474C>A | gnomAD v4 |
3 | g.150926473_150926474insA | CA2758898318 | CLRN1 | c.*378_*379insT (n.*378_*379insT) c.104+15108_104+15109insT c.162+15108_162+15109insT n.2473_2474insT | |
3 | g.150926474T>A | CA1054909560 | CLRN1 | c.*378A>T (n.*378A>T) c.104+15108A>T c.162+15108A>T n.2473A>T | gnomAD v4 |
3 | g.150926474T>C | CA2668196762 | CLRN1 | c.*378A>G (n.*378A>G) c.104+15108A>G c.162+15108A>G n.2473A>G | gnomAD v4 |
3 | g.150926474T>G | CA2758898319 | CLRN1 | c.*378A>C (n.*378A>C) c.104+15108A>C c.162+15108A>C n.2473A>C | |
3 | g.150926475T>A | CA1054909561 | CLRN1 | c.*377A>T (n.*377A>T) c.104+15107A>T c.162+15107A>T n.2472A>T | gnomAD v3 gnomAD v4 |
3 | g.150926475T>C | CA2758898320 | CLRN1 | c.*377A>G (n.*377A>G) c.104+15107A>G c.162+15107A>G n.2472A>G | |
3 | g.150926475T>G | CA2758898324 | CLRN1 | c.*377A>C (n.*377A>C) c.104+15107A>C c.162+15107A>C n.2472A>C | |
3 | g.150926476A>G | CA2668196763 | CLRN1 | c.*376T>C (n.*376T>C) c.104+15106T>C c.162+15106T>C n.2471T>C | gnomAD v4 |
3 | g.150926476A>T | CA2668196764 | CLRN1 | c.*376T>A (n.*376T>A) c.104+15106T>A c.162+15106T>A n.2471T>A | gnomAD v4 |
3 | g.150926477C>A | CA85679232 | CLRN1 | c.*375G>T (n.*375G>T) c.104+15105G>T c.162+15105G>T n.2470G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926477C= | CA1410882501 | CLRN1 | c.*375G= (n.*375G=) c.104+15105G= c.162+15105G= n.2470G= | |
3 | g.150926477C>G | CA1054909565 | CLRN1 | c.*375G>C (n.*375G>C) c.104+15105G>C c.162+15105G>C n.2470G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926477C>T | CA2581916024 | CLRN1 | c.*375G>A (n.*375G>A) c.104+15105G>A c.162+15105G>A n.2470G>A | gnomAD v4 |
3 | g.150926477_150926478del | CA546974207 | CLRN1 | c.*374_*375del (n.*374_*375del) c.104+15104_104+15105del c.162+15104_162+15105del n.2469_2470del | gnomAD v2 |
3 | g.150926478del | CA2668196765 | CLRN1 | c.*375del (n.*375del) c.104+15105del c.162+15105del n.2470del | gnomAD v4 |
3 | g.150926477_150926478insA | CA1054909569 | CLRN1 | c.*374_*375insT (n.*374_*375insT) c.104+15104_104+15105insT c.162+15104_162+15105insT n.2469_2470insT | dbSNP |
3 | g.150926477_150926478insAA | CA1054909570 | CLRN1 | c.*374_*375insTT (n.*374_*375insTT) c.104+15104_104+15105insTT c.162+15104_162+15105insTT n.2469_2470insTT | gnomAD v3 gnomAD v4 |
3 | g.150926478C>A | CA546974208 | CLRN1 | c.*374G>T (n.*374G>T) c.104+15104G>T c.162+15104G>T n.2469G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926478C= | CA1410882503 | CLRN1 | c.*374G= (n.*374G=) c.104+15104G= c.162+15104G= n.2469G= | |
3 | g.150926478_150926480delinsCAA | CA1410882502 | CLRN1 | c.*372_*374delinsTTG (n.*372_*374delinsTTG) c.104+15102_104+15104delinsTTG c.162+15102_162+15104delinsTTG n.2467_2469delinsTTG | |
3 | g.150926478_150926479insT | CA2668196766 | CLRN1 | c.*373_*374insA (n.*373_*374insA) c.104+15103_104+15104insA c.162+15103_162+15104insA n.2468_2469insA | gnomAD v4 |
3 | g.150926479A= | CA1410882505 | CLRN1 | c.*373T= (n.*373T=) c.104+15103T= c.162+15103T= n.2468T= | |
3 | g.150926479A>C | CA85679259 | CLRN1 | c.*373T>G (n.*373T>G) c.104+15103T>G c.162+15103T>G n.2468T>G | dbSNP |
3 | g.150926479A>G | CA1410882504 | CLRN1 | c.*373T>C (n.*373T>C) c.104+15103T>C c.162+15103T>C n.2468T>C | dbSNP |
3 | g.150926479A>T | CA2668196767 | CLRN1 | c.*373T>A (n.*373T>A) c.104+15103T>A c.162+15103T>A n.2468T>A | gnomAD v4 |
3 | g.150926490_150926491insAAAAAAAAAAAAAAAAAAAA | CA1054909613 | CLRN1 | c.*373_*374insTTTTTTTTTTTTTTTTTTTT (n.*373_*374insTTTTTTTTTTTTTTTTTTTT) c.104+15103_104+15104insTTTTTTTTTTTTTTTTTTTT c.162+15103_162+15104insTTTTTTTTTTTTTTTTTTTT n.2468_2469insTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |
3 | g.150926490dup | CA85679251 | CLRN1 | c.*373dup (n.*373dup) c.104+15103dup c.162+15103dup n.2468dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926489_150926490dup | CA546974209 | CLRN1 | c.*372_*373dup (n.*372_*373dup) c.104+15102_104+15103dup c.162+15102_162+15103dup n.2467_2468dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926488_150926490dup | CA546974210 | CLRN1 | c.*371_*373dup (n.*371_*373dup) c.104+15101_104+15103dup c.162+15101_162+15103dup n.2466_2468dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926487_150926490dup | CA900656584 | CLRN1 | c.*370_*373dup (n.*370_*373dup) c.104+15100_104+15103dup c.162+15100_162+15103dup n.2465_2468dup | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926490del | CA85679258 | CLRN1 | c.*373del (n.*373del) c.104+15103del c.162+15103del n.2468del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926489_150926490del | CA900656585 | CLRN1 | c.*372_*373del (n.*372_*373del) c.104+15102_104+15103del c.162+15102_162+15103del n.2467_2468del | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926488_150926490del | CA1054909603 | CLRN1 | c.*371_*373del (n.*371_*373del) c.104+15101_104+15103del c.162+15101_162+15103del n.2466_2468del | gnomAD v3 gnomAD v4 |
3 | g.150926480A= | CA1410882506 | CLRN1 | c.*372T= (n.*372T=) c.104+15102T= c.162+15102T= n.2467T= | |
3 | g.150926480A>G | CA546974211 | CLRN1 | c.*372T>C (n.*372T>C) c.104+15102T>C c.162+15102T>C n.2467T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926482A= | CA1410882507 | CLRN1 | c.*370T= (n.*370T=) c.104+15100T= c.162+15100T= n.2465T= | |
3 | g.150926482_150926483insG | CA900656593 | CLRN1 | c.*369_*370insC (n.*369_*370insC) c.104+15099_104+15100insC c.162+15099_162+15100insC n.2464_2465insC | dbSNP |
3 | g.150926483A= | CA1410882508 | CLRN1 | c.*369T= (n.*369T=) c.104+15099T= c.162+15099T= n.2464T= | |
3 | g.150926483A>G | CA1054909625 | CLRN1 | c.*369T>C (n.*369T>C) c.104+15099T>C c.162+15099T>C n.2464T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926487A= | CA1410882509 | CLRN1 | c.*365T= (n.*365T=) c.104+15095T= c.162+15095T= n.2460T= | |
3 | g.150926487A>T | CA546974212 | CLRN1 | c.*365T>A (n.*365T>A) c.104+15095T>A c.162+15095T>A n.2460T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926491del | CA2668196768 | CLRN1 | c.*361del (n.*361del) c.104+15091del c.162+15091del n.2456del | gnomAD v4 |
3 | g.150926491T>A | CA1054909636 | CLRN1 | c.*361A>T (n.*361A>T) c.104+15091A>T c.162+15091A>T n.2456A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926491T>C | CA546974213 | CLRN1 | c.*361A>G (n.*361A>G) c.104+15091A>G c.162+15091A>G n.2456A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926491T= | CA1410882510 | CLRN1 | c.*361A= (n.*361A=) c.104+15091A= c.162+15091A= n.2456A= | |
3 | g.150926492C>A | CA1054909642 | CLRN1 | c.*360G>T (n.*360G>T) c.104+15090G>T c.162+15090G>T n.2455G>T | gnomAD v3 gnomAD v4 |
3 | g.150926492C= | CA1410882511 | CLRN1 | c.*360G= (n.*360G=) c.104+15090G= c.162+15090G= n.2455G= | |
3 | g.150926492C>T | CA1410882512 | CLRN1 | c.*360G>A (n.*360G>A) c.104+15090G>A c.162+15090G>A n.2455G>A | dbSNP gnomAD v4 |
3 | g.150926493C>A | CA2668196769 | CLRN1 | c.*359G>T (n.*359G>T) c.104+15089G>T c.162+15089G>T n.2454G>T | gnomAD v4 |
3 | g.150926493C>T | CA2668196770 | CLRN1 | c.*359G>A (n.*359G>A) c.104+15089G>A c.162+15089G>A n.2454G>A | gnomAD v4 |
3 | g.150926494C>A | CA2668196771 | CLRN1 | c.*358G>T (n.*358G>T) c.104+15088G>T c.162+15088G>T n.2453G>T | gnomAD v4 |
3 | g.150926494C>G | CA2668196772 | CLRN1 | c.*358G>C (n.*358G>C) c.104+15088G>C c.162+15088G>C n.2453G>C | gnomAD v4 |
3 | g.150926494C>T | CA2668196773 | CLRN1 | c.*358G>A (n.*358G>A) c.104+15088G>A c.162+15088G>A n.2453G>A | gnomAD v4 |
3 | g.150926494_150926499del | CA2758898354 | CLRN1 | c.*353_*358del (n.*353_*358del) c.104+15083_104+15088del c.162+15083_162+15088del n.2448_2453del | |
3 | g.150926495C>A | CA2668196774 | CLRN1 | c.*357G>T (n.*357G>T) c.104+15087G>T c.162+15087G>T n.2452G>T | gnomAD v4 |
3 | g.150926495C>T | CA2704213954 | CLRN1 | c.*357G>A (n.*357G>A) c.104+15087G>A c.162+15087G>A n.2452G>A | dbSNP |
3 | g.150926495_150926496insACA | CA2758898360 | CLRN1 | c.*356_*357insTGT (n.*356_*357insTGT) c.104+15086_104+15087insTGT c.162+15086_162+15087insTGT n.2451_2452insTGT | |
3 | g.150926496T>C | CA2668196775 | CLRN1 | c.*356A>G (n.*356A>G) c.104+15086A>G c.162+15086A>G n.2451A>G | gnomAD v4 |
3 | g.150926496T>G | CA85679263 | CLRN1 | c.*356A>C (n.*356A>C) c.104+15086A>C c.162+15086A>C n.2451A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926496T= | CA1410882513 | CLRN1 | c.*356A= (n.*356A=) c.104+15086A= c.162+15086A= n.2451A= | |
3 | g.150926497T>C | CA2668196776 | CLRN1 | c.*355A>G (n.*355A>G) c.104+15085A>G c.162+15085A>G n.2450A>G | gnomAD v4 |
3 | g.150926497T>G | CA2668196777 | CLRN1 | c.*355A>C (n.*355A>C) c.104+15085A>C c.162+15085A>C n.2450A>C | gnomAD v4 |
3 | g.150926498T>C | CA85679269 | CLRN1 | c.*354A>G (n.*354A>G) c.104+15084A>G c.162+15084A>G n.2449A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926498T>G | CA2668196778 | CLRN1 | c.*354A>C (n.*354A>C) c.104+15084A>C c.162+15084A>C n.2449A>C | gnomAD v4 |
3 | g.150926498T= | CA1410882514 | CLRN1 | c.*354A= (n.*354A=) c.104+15084A= c.162+15084A= n.2449A= | |
3 | g.150926499G>T | CA2668196779 | CLRN1 | c.*353C>A (n.*353C>A) c.104+15083C>A c.162+15083C>A n.2448C>A | gnomAD v4 |
3 | g.150926500T>A | CA2668196780 | CLRN1 | c.*352A>T (n.*352A>T) c.104+15082A>T c.162+15082A>T n.2447A>T | gnomAD v4 |
3 | g.150926500T>G | CA2668196781 | CLRN1 | c.*352A>C (n.*352A>C) c.104+15082A>C c.162+15082A>C n.2447A>C | gnomAD v4 |
3 | g.150926502G>A | CA85679271 | CLRN1 | c.*350C>T (n.*350C>T) c.104+15080C>T c.162+15080C>T n.2445C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926502G>C | CA2668196782 | CLRN1 | c.*350C>G (n.*350C>G) c.104+15080C>G c.162+15080C>G n.2445C>G | gnomAD v4 |
3 | g.150926502G= | CA1410882515 | CLRN1 | c.*350C= (n.*350C=) c.104+15080C= c.162+15080C= n.2445C= | |
3 | g.150926502G>T | CA2668196783 | CLRN1 | c.*350C>A (n.*350C>A) c.104+15080C>A c.162+15080C>A n.2445C>A | gnomAD v4 |
3 | g.150926503C>A | CA2668196784 | CLRN1 | c.*349G>T (n.*349G>T) c.104+15079G>T c.162+15079G>T n.2444G>T | gnomAD v4 |
3 | g.150926503C= | CA1410882516 | CLRN1 | c.*349G= (n.*349G=) c.104+15079G= c.162+15079G= n.2444G= | |
3 | g.150926503C>T | CA900656598 | CLRN1 | c.*349G>A (n.*349G>A) c.104+15079G>A c.162+15079G>A n.2444G>A | dbSNP gnomAD v4 |
3 | g.150926504T>C | CA2668196785 | CLRN1 | c.*348A>G (n.*348A>G) c.104+15078A>G c.162+15078A>G n.2443A>G | gnomAD v4 |
3 | g.150926505A= | CA1410882517 | CLRN1 | c.*347T= (n.*347T=) c.104+15077T= c.162+15077T= n.2442T= | |
3 | g.150926505A>C | CA2668196786 | CLRN1 | c.*347T>G (n.*347T>G) c.104+15077T>G c.162+15077T>G n.2442T>G | gnomAD v4 |
3 | g.150926505A>G | CA85679278 | CLRN1 | c.*347T>C (n.*347T>C) c.104+15077T>C c.162+15077T>C n.2442T>C | dbSNP |
3 | g.150926505A>T | CA2668196787 | CLRN1 | c.*347T>A (n.*347T>A) c.104+15077T>A c.162+15077T>A n.2442T>A | gnomAD v4 |