Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.150926236A>G | CA2758898287 | CLRN1 | c.*616T>C (n.*616T>C) c.104+15346T>C c.162+15346T>C n.2711T>C | |
3 | g.150926237C>A | CA2668196574 | CLRN1 | c.*615G>T (n.*615G>T) c.104+15345G>T c.162+15345G>T n.2710G>T | gnomAD v4 |
3 | g.150926239G>A | CA2668196575 | CLRN1 | c.*613C>T (n.*613C>T) c.104+15343C>T c.162+15343C>T n.2708C>T | gnomAD v4 |
3 | g.150926239G>C | CA1054909497 | CLRN1 | c.*613C>G (n.*613C>G) c.104+15343C>G c.162+15343C>G n.2708C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926239G= | CA1410882396 | CLRN1 | c.*613C= (n.*613C=) c.104+15343C= c.162+15343C= n.2708C= | |
3 | g.150926239G>T | CA2668196576 | CLRN1 | c.*613C>A (n.*613C>A) c.104+15343C>A c.162+15343C>A n.2708C>A | gnomAD v4 |
3 | g.150926240A>G | CA2704213745 | CLRN1 | c.*612T>C (n.*612T>C) c.104+15342T>C c.162+15342T>C n.2707T>C | dbSNP |
3 | g.150926241G>A | CA1410882398 | CLRN1 | c.*611C>T (n.*611C>T) c.104+15341C>T c.162+15341C>T n.2706C>T | dbSNP |
3 | g.150926241G>C | CA2668196577 | CLRN1 | c.*611C>G (n.*611C>G) c.104+15341C>G c.162+15341C>G n.2706C>G | gnomAD v4 |
3 | g.150926241G= | CA1410882397 | CLRN1 | c.*611C= (n.*611C=) c.104+15341C= c.162+15341C= n.2706C= | |
3 | g.150926241G>T | CA2758898289 | CLRN1 | c.*611C>A (n.*611C>A) c.104+15341C>A c.162+15341C>A n.2706C>A | |
3 | g.150926243A= | CA1410882399 | CLRN1 | c.*609T= (n.*609T=) c.104+15339T= c.162+15339T= n.2704T= | |
3 | g.150926243A>G | CA1410882400 | CLRN1 | c.*609T>C (n.*609T>C) c.104+15339T>C c.162+15339T>C n.2704T>C | dbSNP |
3 | g.150926244C>A | CA2668196578 | CLRN1 | c.*608G>T (n.*608G>T) c.104+15338G>T c.162+15338G>T n.2703G>T | gnomAD v4 |
3 | g.150926244C= | CA1410882401 | CLRN1 | c.*608G= (n.*608G=) c.104+15338G= c.162+15338G= n.2703G= | |
3 | g.150926244C>T | CA900656392 | CLRN1 | c.*608G>A (n.*608G>A) c.104+15338G>A c.162+15338G>A n.2703G>A | dbSNP gnomAD v4 |
3 | g.150926245G>A | CA1410882403 | CLRN1 | c.*607C>T (n.*607C>T) c.104+15337C>T c.162+15337C>T n.2702C>T | dbSNP gnomAD v4 |
3 | g.150926245G>C | CA1410882404 | CLRN1 | c.*607C>G (n.*607C>G) c.104+15337C>G c.162+15337C>G n.2702C>G | dbSNP |
3 | g.150926245G= | CA1410882402 | CLRN1 | c.*607C= (n.*607C=) c.104+15337C= c.162+15337C= n.2702C= | |
3 | g.150926246A= | CA1410882405 | CLRN1 | c.*606T= (n.*606T=) c.104+15336T= c.162+15336T= n.2701T= | |
3 | g.150926246A>T | CA85679107 | CLRN1 | c.*606T>A (n.*606T>A) c.104+15336T>A c.162+15336T>A n.2701T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926247T>C | CA85679110 | CLRN1 | c.*605A>G (n.*605A>G) c.104+15335A>G c.162+15335A>G n.2700A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926247T>G | CA2668196579 | CLRN1 | c.*605A>C (n.*605A>C) c.104+15335A>C c.162+15335A>C n.2700A>C | gnomAD v4 |
3 | g.150926247T= | CA1410882406 | CLRN1 | c.*605A= (n.*605A=) c.104+15335A= c.162+15335A= n.2700A= | |
3 | g.150926248T>C | CA1410882407 | CLRN1 | c.*604A>G (n.*604A>G) c.104+15334A>G c.162+15334A>G n.2699A>G | dbSNP |
3 | g.150926248T= | CA1410882408 | CLRN1 | c.*604A= (n.*604A=) c.104+15334A= c.162+15334A= n.2699A= | |
3 | g.150926249G>T | CA2668196580 | CLRN1 | c.*603C>A (n.*603C>A) c.104+15333C>A c.162+15333C>A n.2698C>A | gnomAD v4 |
3 | g.150926250G>C | CA85679117 | CLRN1 | c.*602C>G (n.*602C>G) c.104+15332C>G c.162+15332C>G n.2697C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926250G= | CA1410882409 | CLRN1 | c.*602C= (n.*602C=) c.104+15332C= c.162+15332C= n.2697C= | |
3 | g.150926250G>T | CA2668196581 | CLRN1 | c.*602C>A (n.*602C>A) c.104+15332C>A c.162+15332C>A n.2697C>A | gnomAD v4 |
3 | g.150926251A>G | CA2668196582 | CLRN1 | c.*601T>C (n.*601T>C) c.104+15331T>C c.162+15331T>C n.2696T>C | gnomAD v4 |
3 | g.150926253A= | CA1410882410 | CLRN1 | c.*599T= (n.*599T=) c.104+15329T= c.162+15329T= n.2694T= | |
3 | g.150926253A>G | CA1054909501 | CLRN1 | c.*599T>C (n.*599T>C) c.104+15329T>C c.162+15329T>C n.2694T>C | dbSNP |
3 | g.150926254C>A | CA2668196583 | CLRN1 | c.*598G>T (n.*598G>T) c.104+15328G>T c.162+15328G>T n.2693G>T | gnomAD v4 |
3 | g.150926255T>A | CA1410882412 | CLRN1 | c.*597A>T (n.*597A>T) c.104+15327A>T c.162+15327A>T n.2692A>T | dbSNP |
3 | g.150926255T= | CA1410882411 | CLRN1 | c.*597A= (n.*597A=) c.104+15327A= c.162+15327A= n.2692A= | |
3 | g.150926257G>T | CA2668196584 | CLRN1 | c.*595C>A (n.*595C>A) c.104+15325C>A c.162+15325C>A n.2690C>A | gnomAD v4 |
3 | g.150926259T>C | CA2668196585 | CLRN1 | c.*593A>G (n.*593A>G) c.104+15323A>G c.162+15323A>G n.2688A>G | gnomAD v4 |
3 | g.150926262C= | CA1410882413 | CLRN1 | c.*590G= (n.*590G=) c.104+15320G= c.162+15320G= n.2685G= | |
3 | g.150926262C>G | CA85679126 | CLRN1 | c.*590G>C (n.*590G>C) c.104+15320G>C c.162+15320G>C n.2685G>C | dbSNP |
3 | g.150926266A= | CA1410882414 | CLRN1 | c.*586T= (n.*586T=) c.104+15316T= c.162+15316T= n.2681T= | |
3 | g.150926266A>G | CA85679133 | CLRN1 | c.*586T>C (n.*586T>C) c.104+15316T>C c.162+15316T>C n.2681T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926267G>A | CA900656400 | CLRN1 | c.*585C>T (n.*585C>T) c.104+15315C>T c.162+15315C>T n.2680C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926267G= | CA1410882415 | CLRN1 | c.*585C= (n.*585C=) c.104+15315C= c.162+15315C= n.2680C= | |
3 | g.150926267G>T | CA2668196586 | CLRN1 | c.*585C>A (n.*585C>A) c.104+15315C>A c.162+15315C>A n.2680C>A | gnomAD v4 |
3 | g.150926267_150926268delinsGA | CA1410882416 | CLRN1 | c.*584_*585delinsTC (n.*584_*585delinsTC) c.104+15314_104+15315delinsTC c.162+15314_162+15315delinsTC n.2679_2680delinsTC | |
3 | g.150926273del | CA1410882417 | CLRN1 | c.*584del (n.*584del) c.104+15314del c.162+15314del n.2679del | dbSNP |
3 | g.150926272A= | CA1410882418 | CLRN1 | c.*580T= (n.*580T=) c.104+15310T= c.162+15310T= n.2675T= | |
3 | g.150926272A>C | CA546974197 | CLRN1 | c.*580T>G (n.*580T>G) c.104+15310T>G c.162+15310T>G n.2675T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926272A>G | CA2668196587 | CLRN1 | c.*580T>C (n.*580T>C) c.104+15310T>C c.162+15310T>C n.2675T>C | gnomAD v4 |
3 | g.150926272A>T | CA2668196588 | CLRN1 | c.*580T>A (n.*580T>A) c.104+15310T>A c.162+15310T>A n.2675T>A | gnomAD v4 |
3 | g.150926273A= | CA1410882419 | CLRN1 | c.*579T= (n.*579T=) c.104+15309T= c.162+15309T= n.2674T= | |
3 | g.150926273_150926274insT | CA1054909509 | CLRN1 | c.*578_*579insA (n.*578_*579insA) c.104+15308_104+15309insA c.162+15308_162+15309insA n.2673_2674insA | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926274G>T | CA2668196589 | CLRN1 | c.*578C>A (n.*578C>A) c.104+15308C>A c.162+15308C>A n.2673C>A | gnomAD v4 |
3 | g.150926275C>A | CA1054909524 | CLRN1 | c.*577G>T (n.*577G>T) c.104+15307G>T c.162+15307G>T n.2672G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926275C= | CA1410882420 | CLRN1 | c.*577G= (n.*577G=) c.104+15307G= c.162+15307G= n.2672G= | |
3 | g.150926275C>G | CA900656411 | CLRN1 | c.*577G>C (n.*577G>C) c.104+15307G>C c.162+15307G>C n.2672G>C | dbSNP gnomAD v4 |
3 | g.150926275C>T | CA2668196590 | CLRN1 | c.*577G>A (n.*577G>A) c.104+15307G>A c.162+15307G>A n.2672G>A | gnomAD v4 |
3 | g.150926276C>A | CA2668196592 | CLRN1 | c.*576G>T (n.*576G>T) c.104+15306G>T c.162+15306G>T n.2671G>T | gnomAD v4 |
3 | g.150926276C>T | CA2668196591 | CLRN1 | c.*576G>A (n.*576G>A) c.104+15306G>A c.162+15306G>A n.2671G>A | gnomAD v4 |
3 | g.150926278G>A | CA2668196594 | CLRN1 | c.*574C>T (n.*574C>T) c.104+15304C>T c.162+15304C>T n.2669C>T | gnomAD v4 |
3 | g.150926279del | CA2668196593 | CLRN1 | c.*574del (n.*574del) c.104+15304del c.162+15304del n.2669del | gnomAD v4 |
3 | g.150926279G>A | CA546974198 | CLRN1 | c.*573C>T (n.*573C>T) c.104+15303C>T c.162+15303C>T n.2668C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926279G= | CA1410882421 | CLRN1 | c.*573C= (n.*573C=) c.104+15303C= c.162+15303C= n.2668C= | |
3 | g.150926279G>T | CA2668196595 | CLRN1 | c.*573C>A (n.*573C>A) c.104+15303C>A c.162+15303C>A n.2668C>A | gnomAD v4 |
3 | g.150926280T>G | CA2668196596 | CLRN1 | c.*572A>C (n.*572A>C) c.104+15302A>C c.162+15302A>C n.2667A>C | gnomAD v4 |
3 | g.150926284C= | CA1410882422 | CLRN1 | c.*568G= (n.*568G=) c.104+15298G= c.162+15298G= n.2663G= | |
3 | g.150926284C>G | CA1054909528 | CLRN1 | c.*568G>C (n.*568G>C) c.104+15298G>C c.162+15298G>C n.2663G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926284C>T | CA85679140 | CLRN1 | c.*568G>A (n.*568G>A) c.104+15298G>A c.162+15298G>A n.2663G>A | dbSNP gnomAD v4 |
3 | g.150926285G>A | CA900656413 | CLRN1 | c.*567C>T (n.*567C>T) c.104+15297C>T c.162+15297C>T n.2662C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926285G= | CA1410882423 | CLRN1 | c.*567C= (n.*567C=) c.104+15297C= c.162+15297C= n.2662C= | |
3 | g.150926290A= | CA1410882424 | CLRN1 | c.*562T= (n.*562T=) c.104+15292T= c.162+15292T= n.2657T= | |
3 | g.150926290A>G | CA2668196597 | CLRN1 | c.*562T>C (n.*562T>C) c.104+15292T>C c.162+15292T>C n.2657T>C | gnomAD v4 |
3 | g.150926290_150926291insC | CA1410882427 | CLRN1 | c.*561_*562insG (n.*561_*562insG) c.104+15291_104+15292insG c.162+15291_162+15292insG n.2656_2657insG | dbSNP |
3 | g.150926291G= | CA1410882426 | CLRN1 | c.*561C= (n.*561C=) c.104+15291C= c.162+15291C= n.2656C= | |
3 | g.150926291G>T | CA1410882425 | CLRN1 | c.*561C>A (n.*561C>A) c.104+15291C>A c.162+15291C>A n.2656C>A | dbSNP |
3 | g.150926292T>A | CA2668196598 | CLRN1 | c.*560A>T (n.*560A>T) c.104+15290A>T c.162+15290A>T n.2655A>T | gnomAD v4 |
3 | g.150926292T>G | CA1054909531 | CLRN1 | c.*560A>C (n.*560A>C) c.104+15290A>C c.162+15290A>C n.2655A>C | gnomAD v3 gnomAD v4 |
3 | g.150926293T>G | CA2668196599 | CLRN1 | c.*559A>C (n.*559A>C) c.104+15289A>C c.162+15289A>C n.2654A>C | gnomAD v4 |
3 | g.150926297C= | CA1410882428 | CLRN1 | c.*555G= (n.*555G=) c.104+15285G= c.162+15285G= n.2650G= | |
3 | g.150926297C>G | CA1410882429 | CLRN1 | c.*555G>C (n.*555G>C) c.104+15285G>C c.162+15285G>C n.2650G>C | dbSNP |
3 | g.150926297C>T | CA2668196600 | CLRN1 | c.*555G>A (n.*555G>A) c.104+15285G>A c.162+15285G>A n.2650G>A | gnomAD v4 |
3 | g.150926298A>T | CA2668196601 | CLRN1 | c.*554T>A (n.*554T>A) c.104+15284T>A c.162+15284T>A n.2649T>A | gnomAD v4 |
3 | g.150926299A>G | CA2668196602 | CLRN1 | c.*553T>C (n.*553T>C) c.104+15283T>C c.162+15283T>C n.2648T>C | gnomAD v4 |
3 | g.150926302C>A | CA2668196603 | CLRN1 | c.*550G>T (n.*550G>T) c.104+15280G>T c.162+15280G>T n.2645G>T | gnomAD v4 |
3 | g.150926305C>A | CA2668196604 | CLRN1 | c.*547G>T (n.*547G>T) c.104+15277G>T c.162+15277G>T n.2642G>T | gnomAD v4 |
3 | g.150926305C>T | CA2668196605 | CLRN1 | c.*547G>A (n.*547G>A) c.104+15277G>A c.162+15277G>A n.2642G>A | gnomAD v4 |
3 | g.150926306A>G | CA2668196606 | CLRN1 | c.*546T>C (n.*546T>C) c.104+15276T>C c.162+15276T>C n.2641T>C | gnomAD v4 |
3 | g.150926307A= | CA1410882430 | CLRN1 | c.*545T= (n.*545T=) c.104+15275T= c.162+15275T= n.2640T= | |
3 | g.150926307A>G | CA1410882431 | CLRN1 | c.*545T>C (n.*545T>C) c.104+15275T>C c.162+15275T>C n.2640T>C | dbSNP |
3 | g.150926307A>T | CA2668196607 | CLRN1 | c.*545T>A (n.*545T>A) c.104+15275T>A c.162+15275T>A n.2640T>A | gnomAD v4 |
3 | g.150926308G>C | CA900656419 | CLRN1 | c.*544C>G (n.*544C>G) c.104+15274C>G c.162+15274C>G n.2639C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926308G= | CA1410882432 | CLRN1 | c.*544C= (n.*544C=) c.104+15274C= c.162+15274C= n.2639C= | |
3 | g.150926308G>T | CA2668196608 | CLRN1 | c.*544C>A (n.*544C>A) c.104+15274C>A c.162+15274C>A n.2639C>A | gnomAD v4 |
3 | g.150926310A>G | CA2668196609 | CLRN1 | c.*542T>C (n.*542T>C) c.104+15272T>C c.162+15272T>C n.2637T>C | gnomAD v4 |
3 | g.150926311G>T | CA2758898294 | CLRN1 | c.*541C>A (n.*541C>A) c.104+15271C>A c.162+15271C>A n.2636C>A | |
3 | g.150926312A= | CA1410882433 | CLRN1 | c.*540T= (n.*540T=) c.104+15270T= c.162+15270T= n.2635T= | |
3 | g.150926312A>G | CA2668196610 | CLRN1 | c.*540T>C (n.*540T>C) c.104+15270T>C c.162+15270T>C n.2635T>C | gnomAD v4 |
3 | g.150926312A>T | CA1410882434 | CLRN1 | c.*540T>A (n.*540T>A) c.104+15270T>A c.162+15270T>A n.2635T>A | dbSNP |
3 | g.150926313C>A | CA2668196611 | CLRN1 | c.*539G>T (n.*539G>T) c.104+15269G>T c.162+15269G>T n.2634G>T | gnomAD v4 |
3 | g.150926313C= | CA1410882435 | CLRN1 | c.*539G= (n.*539G=) c.104+15269G= c.162+15269G= n.2634G= | |
3 | g.150926313C>T | CA85679150 | CLRN1 | c.*539G>A (n.*539G>A) c.104+15269G>A c.162+15269G>A n.2634G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926313_150926315delinsCAG | CA1410882436 | CLRN1 | c.*537_*539delinsCTG (n.*537_*539delinsCTG) c.104+15267_104+15269delinsCTG c.162+15267_162+15269delinsCTG n.2632_2634delinsCTG | |
3 | g.150926314A= | CA1410882438 | CLRN1 | c.*538T= (n.*538T=) c.104+15268T= c.162+15268T= n.2633T= | |
3 | g.150926314A>G | CA85679153 | CLRN1 | c.*538T>C (n.*538T>C) c.104+15268T>C c.162+15268T>C n.2633T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926318_150926319del | CA1410882437 | CLRN1 | c.*537_*538del (n.*537_*538del) c.104+15267_104+15268del c.162+15267_162+15268del n.2632_2633del | dbSNP |
3 | g.150926315G>T | CA2668196612 | CLRN1 | c.*537C>A (n.*537C>A) c.104+15267C>A c.162+15267C>A n.2632C>A | gnomAD v4 |
3 | g.150926317G>A | CA2519997928 | CLRN1 | c.*535C>T (n.*535C>T) c.104+15265C>T c.162+15265C>T n.2630C>T | |
3 | g.150926317G>C | CA85679156 | CLRN1 | c.*535C>G (n.*535C>G) c.104+15265C>G c.162+15265C>G n.2630C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.150926317G= | CA1410882439 | CLRN1 | c.*535C= (n.*535C=) c.104+15265C= c.162+15265C= n.2630C= | |
3 | g.150926319G>T | CA2668196613 | CLRN1 | c.*533C>A (n.*533C>A) c.104+15263C>A c.162+15263C>A n.2628C>A | gnomAD v4 |
3 | g.150926320G>A | CA2758898295 | CLRN1 | c.*532C>T (n.*532C>T) c.104+15262C>T c.162+15262C>T n.2627C>T | |
3 | g.150926320G>T | CA2668196614 | CLRN1 | c.*532C>A (n.*532C>A) c.104+15262C>A c.162+15262C>A n.2627C>A | gnomAD v4 |
3 | g.150926321A>T | CA2668196615 | CLRN1 | c.*531T>A (n.*531T>A) c.104+15261T>A c.162+15261T>A n.2626T>A | gnomAD v4 |
3 | g.150926322A>C | CA2668196616 | CLRN1 | c.*530T>G (n.*530T>G) c.104+15260T>G c.162+15260T>G n.2625T>G | gnomAD v4 |
3 | g.150926322A>G | CA2668196617 | CLRN1 | c.*530T>C (n.*530T>C) c.104+15260T>C c.162+15260T>C n.2625T>C | gnomAD v4 |
3 | g.150926323T>C | CA900656426 | CLRN1 | c.*529A>G (n.*529A>G) c.104+15259A>G c.162+15259A>G n.2624A>G | dbSNP |
3 | g.150926323T= | CA1410882440 | CLRN1 | c.*529A= (n.*529A=) c.104+15259A= c.162+15259A= n.2624A= | |
3 | g.150926324C>A | CA2668196620 | CLRN1 | c.*528G>T (n.*528G>T) c.104+15258G>T c.162+15258G>T n.2623G>T | gnomAD v4 |
3 | g.150926324C>T | CA2668196619 | CLRN1 | c.*528G>A (n.*528G>A) c.104+15258G>A c.162+15258G>A n.2623G>A | gnomAD v4 |
3 | g.150926325del | CA2668196618 | CLRN1 | c.*528del (n.*528del) c.104+15258del c.162+15258del n.2623del | gnomAD v4 |
3 | g.150926325C>A | CA2668196621 | CLRN1 | c.*527G>T (n.*527G>T) c.104+15257G>T c.162+15257G>T n.2622G>T | gnomAD v4 |
3 | g.150926325C>G | CA2668196622 | CLRN1 | c.*527G>C (n.*527G>C) c.104+15257G>C c.162+15257G>C n.2622G>C | gnomAD v4 |
3 | g.150926327A>G | CA2668196624 | CLRN1 | c.*525T>C (n.*525T>C) c.104+15255T>C c.162+15255T>C n.2620T>C | gnomAD v4 |
3 | g.150926328_150926329del | CA2668196623 | CLRN1 | c.*524_*525del (n.*524_*525del) c.104+15254_104+15255del c.162+15254_162+15255del n.2619_2620del | gnomAD v4 |
3 | g.150926328T>C | CA2571186517 | CLRN1 | c.*524A>G (n.*524A>G) c.104+15254A>G c.162+15254A>G n.2619A>G | |
3 | g.150926329A>G | CA2668196625 | CLRN1 | c.*523T>C (n.*523T>C) c.104+15253T>C c.162+15253T>C n.2618T>C | gnomAD v4 |
3 | g.150926330A= | CA1410882441 | CLRN1 | c.*522T= (n.*522T=) c.104+15252T= c.162+15252T= n.2617T= | |
3 | g.150926330A>G | CA1410882442 | CLRN1 | c.*522T>C (n.*522T>C) c.104+15252T>C c.162+15252T>C n.2617T>C | dbSNP gnomAD v4 |
3 | g.150926332A= | CA1410882443 | CLRN1 | c.*520T= (n.*520T=) c.104+15250T= c.162+15250T= n.2615T= | |
3 | g.150926332A>T | CA85679158 | CLRN1 | c.*520T>A (n.*520T>A) c.104+15250T>A c.162+15250T>A n.2615T>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.150926335G>A | CA2668196626 | CLRN1 | c.*517C>T (n.*517C>T) c.104+15247C>T c.162+15247C>T n.2612C>T | gnomAD v4 |
3 | g.150926335G>T | CA2668196627 | CLRN1 | c.*517C>A (n.*517C>A) c.104+15247C>A c.162+15247C>A n.2612C>A | gnomAD v4 |