Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50905486_50905488delCA486372445PYGLc.2450_2452del (p.Thr817del)
c.2379+2785_2379+2787del (n.2379+2785_2379+2787del)
c.2348_2350del (p.Thr783del)
14g.50905488T>ACA486372464PYGLc.2448A>T (p.Arg816=)
c.2379+2783A>T (n.2379+2783A>T)
c.2346A>T (p.Arg782=)
14g.50905488T>CCA486372465PYGLc.2448A>G (p.Arg816=)
c.2379+2783A>G (n.2379+2783A>G)
c.2346A>G (p.Arg782=)
14g.50905488T>GCA486372463PYGLc.2448A>C (p.Arg816=)
c.2379+2783A>C (n.2379+2783A>C)
c.2346A>C (p.Arg782=)
14g.50905489C>ACA389679047PYGLc.2447G>T (p.Arg816Leu)
c.2379+2782G>T (n.2379+2782G>T)
c.2345G>T (p.Arg782Leu)
14g.50905489C=CA2136411288PYGLc.2447G= (p.Arg816=)
c.2379+2782G= (n.2379+2782G=)
c.2345G= (p.Arg782=)
14g.50905489C>GCA389679049PYGLc.2447G>C (p.Arg816Pro)
c.2379+2782G>C (n.2379+2782G>C)
c.2345G>C (p.Arg782Pro)
 gnomAD v4
14g.50905489C>TCA7183097PYGLc.2447G>A (p.Arg816Gln)
c.2379+2782G>A (n.2379+2782G>A)
c.2345G>A (p.Arg782Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905490G>ACA260818876PYGLc.2446C>T (p.Arg816Ter)
c.2379+2781C>T (n.2379+2781C>T)
c.2344C>T (p.Arg782Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50905490G>CCA260818878PYGLc.2446C>G (p.Arg816Gly)
c.2379+2781C>G (n.2379+2781C>G)
c.2344C>G (p.Arg782Gly)
 dbSNP gnomAD v3 gnomAD v4
14g.50905490G=CA2136411291PYGLc.2446C= (p.Arg816=)
c.2379+2781C= (n.2379+2781C=)
c.2344C= (p.Arg782=)
14g.50905490G>TCA486372471PYGLc.2446C>A (p.Arg816=)
c.2379+2781C>A (n.2379+2781C>A)
c.2344C>A (p.Arg782=)
 COSMIC
14g.50905491G>ACA486372473PYGLc.2445C>T (p.Asp815=)
c.2379+2780C>T (n.2379+2780C>T)
c.2343C>T (p.Asp781=)
14g.50905491G>CCA389679053PYGLc.2445C>G (p.Asp815Glu)
c.2379+2780C>G (n.2379+2780C>G)
c.2343C>G (p.Asp781Glu)
14g.50905491G>TCA389679054PYGLc.2445C>A (p.Asp815Glu)
c.2379+2780C>A (n.2379+2780C>A)
c.2343C>A (p.Asp781Glu)
14g.50905492T>ACA389679058PYGLc.2444A>T (p.Asp815Val)
c.2379+2779A>T (n.2379+2779A>T)
c.2342A>T (p.Asp781Val)
14g.50905492T>CCA389679059PYGLc.2444A>G (p.Asp815Gly)
c.2379+2779A>G (n.2379+2779A>G)
c.2342A>G (p.Asp781Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.50905492T>GCA389679056PYGLc.2444A>C (p.Asp815Ala)
c.2379+2779A>C (n.2379+2779A>C)
c.2342A>C (p.Asp781Ala)
14g.50905492T=CA2136411294PYGLc.2444A= (p.Asp815=)
c.2379+2779A= (n.2379+2779A=)
c.2342A= (p.Asp781=)
14g.50905493C>ACA389679061PYGLc.2443G>T (p.Asp815Tyr)
c.2379+2778G>T (n.2379+2778G>T)
c.2341G>T (p.Asp781Tyr)
 gnomAD v4
14g.50905493C=CA2136411295PYGLc.2443G= (p.Asp815=)
c.2379+2778G= (n.2379+2778G=)
c.2341G= (p.Asp781=)
14g.50905493C>GCA389679063PYGLc.2443G>C (p.Asp815His)
c.2379+2778G>C (n.2379+2778G>C)
c.2341G>C (p.Asp781His)
14g.50905493C>TCA389679064PYGLc.2443G>A (p.Asp815Asn)
c.2379+2778G>A (n.2379+2778G>A)
c.2341G>A (p.Asp781Asn)
 dbSNP gnomAD v4
14g.50905494A>CCA389679066PYGLc.2442T>G (p.Ser814Arg)
c.2379+2777T>G (n.2379+2777T>G)
c.2340T>G (p.Ser780Arg)
14g.50905494A>GCA486372490PYGLc.2442T>C (p.Ser814=)
c.2379+2777T>C (n.2379+2777T>C)
c.2340T>C (p.Ser780=)
14g.50905494A>TCA389679068PYGLc.2442T>A (p.Ser814Arg)
c.2379+2777T>A (n.2379+2777T>A)
c.2340T>A (p.Ser780Arg)
 gnomAD v3 gnomAD v4
14g.50905495C>ACA389679072PYGLc.2441G>T (p.Ser814Ile)
c.2379+2776G>T (n.2379+2776G>T)
c.2339G>T (p.Ser780Ile)
14g.50905495C>GCA389679071PYGLc.2441G>C (p.Ser814Thr)
c.2379+2776G>C (n.2379+2776G>C)
c.2339G>C (p.Ser780Thr)
14g.50905495C>TCA389679070PYGLc.2441G>A (p.Ser814Asn)
c.2379+2776G>A (n.2379+2776G>A)
c.2339G>A (p.Ser780Asn)
14g.50905496T>ACA389679075PYGLc.2440A>T (p.Ser814Cys)
c.2379+2775A>T (n.2379+2775A>T)
c.2338A>T (p.Ser780Cys)
14g.50905496T>CCA389679076PYGLc.2440A>G (p.Ser814Gly)
c.2379+2775A>G (n.2379+2775A>G)
c.2338A>G (p.Ser780Gly)
14g.50905496T>GCA389679078PYGLc.2440A>C (p.Ser814Arg)
c.2379+2775A>C (n.2379+2775A>C)
c.2338A>C (p.Ser780Arg)
14g.50905497G>ACA486372500PYGLc.2439C>T (p.Ser813=)
c.2379+2774C>T (n.2379+2774C>T)
c.2337C>T (p.Ser779=)
 COSMIC
14g.50905497G>CCA486372501PYGLc.2439C>G (p.Ser813=)
c.2379+2774C>G (n.2379+2774C>G)
c.2337C>G (p.Ser779=)
14g.50905497G>TCA486372504PYGLc.2439C>A (p.Ser813=)
c.2379+2774C>A (n.2379+2774C>A)
c.2337C>A (p.Ser779=)
14g.50905498G>ACA389679079PYGLc.2438C>T (p.Ser813Phe)
c.2379+2773C>T (n.2379+2773C>T)
c.2336C>T (p.Ser779Phe)
14g.50905498G>CCA389679081PYGLc.2438C>G (p.Ser813Cys)
c.2379+2773C>G (n.2379+2773C>G)
c.2336C>G (p.Ser779Cys)
 gnomAD v4
14g.50905498G>TCA389679083PYGLc.2438C>A (p.Ser813Tyr)
c.2379+2773C>A (n.2379+2773C>A)
c.2336C>A (p.Ser779Tyr)
14g.50905499A>CCA389679088PYGLc.2437T>G (p.Ser813Ala)
c.2379+2772T>G (n.2379+2772T>G)
c.2335T>G (p.Ser779Ala)
14g.50905499A>GCA389679084PYGLc.2437T>C (p.Ser813Pro)
c.2379+2772T>C (n.2379+2772T>C)
c.2335T>C (p.Ser779Pro)
14g.50905499A>TCA389679086PYGLc.2437T>A (p.Ser813Thr)
c.2379+2772T>A (n.2379+2772T>A)
c.2335T>A (p.Ser779Thr)
14g.50905500G>ACA486372513PYGLc.2436C>T (p.Phe812=)
c.2379+2771C>T (n.2379+2771C>T)
c.2334C>T (p.Phe778=)
 dbSNP COSMIC
14g.50905500G>CCA389679089PYGLc.2436C>G (p.Phe812Leu)
c.2379+2771C>G (n.2379+2771C>G)
c.2334C>G (p.Phe778Leu)
14g.50905500G=CA2136411298PYGLc.2436C= (p.Phe812=)
c.2379+2771C= (n.2379+2771C=)
c.2334C= (p.Phe778=)
14g.50905500G>TCA389679091PYGLc.2436C>A (p.Phe812Leu)
c.2379+2771C>A (n.2379+2771C>A)
c.2334C>A (p.Phe778Leu)
14g.50905501A>CCA389679093PYGLc.2435T>G (p.Phe812Cys)
c.2379+2770T>G (n.2379+2770T>G)
c.2333T>G (p.Phe778Cys)
14g.50905501A>GCA389679094PYGLc.2435T>C (p.Phe812Ser)
c.2379+2770T>C (n.2379+2770T>C)
c.2333T>C (p.Phe778Ser)
14g.50905501A>TCA389679096PYGLc.2435T>A (p.Phe812Tyr)
c.2379+2770T>A (n.2379+2770T>A)
c.2333T>A (p.Phe778Tyr)
14g.50905502A>CCA389679098PYGLc.2434T>G (p.Phe812Val)
c.2379+2769T>G (n.2379+2769T>G)
c.2332T>G (p.Phe778Val)
14g.50905502A>GCA389679099PYGLc.2434T>C (p.Phe812Leu)
c.2379+2769T>C (n.2379+2769T>C)
c.2332T>C (p.Phe778Leu)
14g.50905502A>TCA389679101PYGLc.2434T>A (p.Phe812Ile)
c.2379+2769T>A (n.2379+2769T>A)
c.2332T>A (p.Phe778Ile)
14g.50905503T>ACA389679103PYGLc.2433A>T (p.Lys811Asn)
c.2379+2768A>T (n.2379+2768A>T)
c.2331A>T (p.Lys777Asn)
14g.50905503T>CCA486372526PYGLc.2433A>G (p.Lys811=)
c.2379+2768A>G (n.2379+2768A>G)
c.2331A>G (p.Lys777=)
 dbSNP gnomAD v2 gnomAD v4
14g.50905503T>GCA389679105PYGLc.2433A>C (p.Lys811Asn)
c.2379+2768A>C (n.2379+2768A>C)
c.2331A>C (p.Lys777Asn)
14g.50905503T=CA2136411299PYGLc.2433A= (p.Lys811=)
c.2379+2768A= (n.2379+2768A=)
c.2331A= (p.Lys777=)
14g.50905504T>ACA389679107PYGLc.2432A>T (p.Lys811Ile)
c.2379+2767A>T (n.2379+2767A>T)
c.2330A>T (p.Lys777Ile)
14g.50905504T>CCA389679109PYGLc.2432A>G (p.Lys811Arg)
c.2379+2767A>G (n.2379+2767A>G)
c.2330A>G (p.Lys777Arg)
14g.50905504T>GCA389679110PYGLc.2432A>C (p.Lys811Thr)
c.2379+2767A>C (n.2379+2767A>C)
c.2330A>C (p.Lys777Thr)
14g.50905505T>ACA389679111PYGLc.2431A>T (p.Lys811Ter)
c.2379+2766A>T (n.2379+2766A>T)
c.2329A>T (p.Lys777Ter)
14g.50905505T>CCA389679114PYGLc.2431A>G (p.Lys811Glu)
c.2379+2766A>G (n.2379+2766A>G)
c.2329A>G (p.Lys777Glu)
14g.50905505T>GCA389679113PYGLc.2431A>C (p.Lys811Gln)
c.2379+2766A>C (n.2379+2766A>C)
c.2329A>C (p.Lys777Gln)
14g.50905506C>ACA7183099PYGLc.2430G>T (p.Gly810=)
c.2379+2765G>T (n.2379+2765G>T)
c.2328G>T (p.Gly776=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50905506C=CA2136411301PYGLc.2430G= (p.Gly810=)
c.2379+2765G= (n.2379+2765G=)
c.2328G= (p.Gly776=)
14g.50905506C>GCA486372540PYGLc.2430G>C (p.Gly810=)
c.2379+2765G>C (n.2379+2765G>C)
c.2328G>C (p.Gly776=)
 gnomAD v4
14g.50905506C>TCA7183098PYGLc.2430G>A (p.Gly810=)
c.2379+2765G>A (n.2379+2765G>A)
c.2328G>A (p.Gly776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905507C>ACA389679117PYGLc.2429G>T (p.Gly810Val)
c.2379+2764G>T (n.2379+2764G>T)
c.2327G>T (p.Gly776Val)
14g.50905507C>GCA389679118PYGLc.2429G>C (p.Gly810Ala)
c.2379+2764G>C (n.2379+2764G>C)
c.2327G>C (p.Gly776Ala)
14g.50905507C>TCA389679120PYGLc.2429G>A (p.Gly810Glu)
c.2379+2764G>A (n.2379+2764G>A)
c.2327G>A (p.Gly776Glu)
 gnomAD v4
14g.50905508C>ACA389679122PYGLc.2428G>T (p.Gly810Trp)
c.2379+2763G>T (n.2379+2763G>T)
c.2326G>T (p.Gly776Trp)
14g.50905508C>GCA389679124PYGLc.2428G>C (p.Gly810Arg)
c.2379+2763G>C (n.2379+2763G>C)
c.2326G>C (p.Gly776Arg)
14g.50905508C>TCA389679125PYGLc.2428G>A (p.Gly810Arg)
c.2379+2763G>A (n.2379+2763G>A)
c.2326G>A (p.Gly776Arg)
14g.50905509C>ACA486372553PYGLc.2427G>T (p.Ser809=)
c.2379+2762G>T (n.2379+2762G>T)
c.2325G>T (p.Ser775=)
14g.50905509C=CA2136411305PYGLc.2427G= (p.Ser809=)
c.2379+2762G= (n.2379+2762G=)
c.2325G= (p.Ser775=)
14g.50905509C>GCA486372556PYGLc.2427G>C (p.Ser809=)
c.2379+2762G>C (n.2379+2762G>C)
c.2325G>C (p.Ser775=)
14g.50905509C>TCA7183100PYGLc.2427G>A (p.Ser809=)
c.2379+2762G>A (n.2379+2762G>A)
c.2325G>A (p.Ser775=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.50905510G>ACA7183101PYGLc.2426C>T (p.Ser809Leu)
c.2379+2761C>T (n.2379+2761C>T)
c.2324C>T (p.Ser775Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.50905510G>CCA389679128PYGLc.2426C>G (p.Ser809Trp)
c.2379+2761C>G (n.2379+2761C>G)
c.2324C>G (p.Ser775Trp)
14g.50905510G=CA2136411308PYGLc.2426C= (p.Ser809=)
c.2379+2761C= (n.2379+2761C=)
c.2324C= (p.Ser775=)
14g.50905510G>TCA389679130PYGLc.2426C>A (p.Ser809Ter)
c.2379+2761C>A (n.2379+2761C>A)
c.2324C>A (p.Ser775Ter)
14g.50905511A>CCA389679136PYGLc.2425T>G (p.Ser809Ala)
c.2379+2760T>G (n.2379+2760T>G)
c.2323T>G (p.Ser775Ala)
14g.50905511A>GCA389679134PYGLc.2425T>C (p.Ser809Pro)
c.2379+2760T>C (n.2379+2760T>C)
c.2323T>C (p.Ser775Pro)
14g.50905511A>TCA389679132PYGLc.2425T>A (p.Ser809Thr)
c.2379+2760T>A (n.2379+2760T>A)
c.2323T>A (p.Ser775Thr)
14g.50905512G>ACA486372566PYGLc.2424C>T (p.Ala808=)
c.2379+2759C>T (n.2379+2759C>T)
c.2322C>T (p.Ala774=)
14g.50905512G>CCA486372567PYGLc.2424C>G (p.Ala808=)
c.2379+2759C>G (n.2379+2759C>G)
c.2322C>G (p.Ala774=)
14g.50905512G>TCA486372570PYGLc.2424C>A (p.Ala808=)
c.2379+2759C>A (n.2379+2759C>A)
c.2322C>A (p.Ala774=)
14g.50905513G>ACA389679137PYGLc.2423C>T (p.Ala808Val)
c.2379+2758C>T (n.2379+2758C>T)
c.2321C>T (p.Ala774Val)
14g.50905513G>CCA389679139PYGLc.2423C>G (p.Ala808Gly)
c.2379+2758C>G (n.2379+2758C>G)
c.2321C>G (p.Ala774Gly)
14g.50905513G>TCA389679140PYGLc.2423C>A (p.Ala808Asp)
c.2379+2758C>A (n.2379+2758C>A)
c.2321C>A (p.Ala774Asp)
14g.50905514C>ACA389679141PYGLc.2422G>T (p.Ala808Ser)
c.2379+2757G>T (n.2379+2757G>T)
c.2320G>T (p.Ala774Ser)
14g.50905514C=CA2136411311PYGLc.2422G= (p.Ala808=)
c.2379+2757G= (n.2379+2757G=)
c.2320G= (p.Ala774=)
14g.50905514C>GCA389679142PYGLc.2422G>C (p.Ala808Pro)
c.2379+2757G>C (n.2379+2757G>C)
c.2320G>C (p.Ala774Pro)
 dbSNP gnomAD v4
14g.50905514C>TCA389679143PYGLc.2422G>A (p.Ala808Thr)
c.2379+2757G>A (n.2379+2757G>A)
c.2320G>A (p.Ala774Thr)
14g.50905515A>CCA486372583PYGLc.2421T>G (p.Ala807=)
c.2379+2756T>G (n.2379+2756T>G)
c.2319T>G (p.Ala773=)
14g.50905515A>GCA486372587PYGLc.2421T>C (p.Ala807=)
c.2379+2756T>C (n.2379+2756T>C)
c.2319T>C (p.Ala773=)
14g.50905515A>TCA486372585PYGLc.2421T>A (p.Ala807=)
c.2379+2756T>A (n.2379+2756T>A)
c.2319T>A (p.Ala773=)
14g.50905516G>ACA389679144PYGLc.2420C>T (p.Ala807Val)
c.2379+2755C>T (n.2379+2755C>T)
c.2318C>T (p.Ala773Val)
14g.50905516G>CCA389679145PYGLc.2420C>G (p.Ala807Gly)
c.2379+2755C>G (n.2379+2755C>G)
c.2318C>G (p.Ala773Gly)
 gnomAD v4
14g.50905516G>TCA389679146PYGLc.2420C>A (p.Ala807Asp)
c.2379+2755C>A (n.2379+2755C>A)
c.2318C>A (p.Ala773Asp)
14g.50905517C>ACA389679147PYGLc.2419G>T (p.Ala807Ser)
c.2379+2754G>T (n.2379+2754G>T)
c.2317G>T (p.Ala773Ser)
14g.50905517C=CA2136411314PYGLc.2419G= (p.Ala807=)
c.2379+2754G= (n.2379+2754G=)
c.2317G= (p.Ala773=)
14g.50905517C>GCA389679148PYGLc.2419G>C (p.Ala807Pro)
c.2379+2754G>C (n.2379+2754G>C)
c.2317G>C (p.Ala773Pro)
 dbSNP gnomAD v4
14g.50905517C>TCA389679149PYGLc.2419G>A (p.Ala807Thr)
c.2379+2754G>A (n.2379+2754G>A)
c.2317G>A (p.Ala773Thr)
14g.50905518T>ACA486372609PYGLc.2418A>T (p.Ile806=)
c.2379+2753A>T (n.2379+2753A>T)
c.2316A>T (p.Ile772=)
 dbSNP
14g.50905518T>CCA389679150PYGLc.2418A>G (p.Ile806Met)
c.2379+2753A>G (n.2379+2753A>G)
c.2316A>G (p.Ile772Met)
 gnomAD v4
14g.50905518T>GCA486372614PYGLc.2418A>C (p.Ile806=)
c.2379+2753A>C (n.2379+2753A>C)
c.2316A>C (p.Ile772=)
14g.50905518T=CA2136411316PYGLc.2418A= (p.Ile806=)
c.2379+2753A= (n.2379+2753A=)
c.2316A= (p.Ile772=)
14g.50905519_50905520delCA2695219346PYGLc.2417_2418del (p.Ile806SerfsTer9)
c.2379+2752_2379+2753del (n.2379+2752_2379+2753del)
c.2315_2316del (p.Ile772SerfsTer9)
14g.50905519A>CCA389679152PYGLc.2417T>G (p.Ile806Arg)
c.2379+2752T>G (n.2379+2752T>G)
c.2315T>G (p.Ile772Arg)
14g.50905519A>GCA389679153PYGLc.2417T>C (p.Ile806Thr)
c.2379+2752T>C (n.2379+2752T>C)
c.2315T>C (p.Ile772Thr)
14g.50905519A>TCA389679151PYGLc.2417T>A (p.Ile806Lys)
c.2379+2752T>A (n.2379+2752T>A)
c.2315T>A (p.Ile772Lys)
14g.50905519dupCA2624823584PYGLc.2417dup (p.Ala807SerfsTer9)
c.2379+2752dup (n.2379+2752dup)
c.2315dup (p.Ala773SerfsTer9)
 gnomAD v4
14g.50905520T>ACA7183102PYGLc.2416A>T (p.Ile806Leu)
c.2379+2751A>T (n.2379+2751A>T)
c.2314A>T (p.Ile772Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905520T>CCA389679154PYGLc.2416A>G (p.Ile806Val)
c.2379+2751A>G (n.2379+2751A>G)
c.2314A>G (p.Ile772Val)
14g.50905520T>GCA389679155PYGLc.2416A>C (p.Ile806Leu)
c.2379+2751A>C (n.2379+2751A>C)
c.2314A>C (p.Ile772Leu)
14g.50905520T=CA2136411320PYGLc.2416A= (p.Ile806=)
c.2379+2751A= (n.2379+2751A=)
c.2314A= (p.Ile772=)
14g.50905521G>ACA486372638PYGLc.2415C>T (p.Asn805=)
c.2379+2750C>T (n.2379+2750C>T)
c.2313C>T (p.Asn771=)
14g.50905521G>CCA389679156PYGLc.2415C>G (p.Asn805Lys)
c.2379+2750C>G (n.2379+2750C>G)
c.2313C>G (p.Asn771Lys)
14g.50905521G>TCA389679157PYGLc.2415C>A (p.Asn805Lys)
c.2379+2750C>A (n.2379+2750C>A)
c.2313C>A (p.Asn771Lys)
14g.50905522T>ACA389679158PYGLc.2414A>T (p.Asn805Ile)
c.2379+2749A>T (n.2379+2749A>T)
c.2312A>T (p.Asn771Ile)
14g.50905522T>CCA389679159PYGLc.2414A>G (p.Asn805Ser)
c.2379+2749A>G (n.2379+2749A>G)
c.2312A>G (p.Asn771Ser)
14g.50905522T>GCA389679160PYGLc.2414A>C (p.Asn805Thr)
c.2379+2749A>C (n.2379+2749A>C)
c.2312A>C (p.Asn771Thr)
14g.50905526delCA645589806PYGLc.2414del (p.Asn805ThrfsTer2)
c.2379+2749del (n.2379+2749del)
c.2312del (p.Asn771ThrfsTer2)
 COSMIC
14g.50905523T>ACA389679161PYGLc.2413A>T (p.Asn805Tyr)
c.2379+2748A>T (n.2379+2748A>T)
c.2311A>T (p.Asn771Tyr)
14g.50905523T>CCA389679162PYGLc.2413A>G (p.Asn805Asp)
c.2379+2748A>G (n.2379+2748A>G)
c.2311A>G (p.Asn771Asp)
14g.50905523T>GCA389679163PYGLc.2413A>C (p.Asn805His)
c.2379+2748A>C (n.2379+2748A>C)
c.2311A>C (p.Asn771His)
14g.50905524T>ACA389679164PYGLc.2412A>T (p.Lys804Asn)
c.2379+2747A>T (n.2379+2747A>T)
c.2310A>T (p.Lys770Asn)
14g.50905524T>CCA486372668PYGLc.2412A>G (p.Lys804=)
c.2379+2747A>G (n.2379+2747A>G)
c.2310A>G (p.Lys770=)
 COSMIC
14g.50905524T>GCA389679165PYGLc.2412A>C (p.Lys804Asn)
c.2379+2747A>C (n.2379+2747A>C)
c.2310A>C (p.Lys770Asn)
14g.50905525T>ACA389679166PYGLc.2411A>T (p.Lys804Ile)
c.2379+2746A>T (n.2379+2746A>T)
c.2309A>T (p.Lys770Ile)
14g.50905525T>CCA389679167PYGLc.2411A>G (p.Lys804Arg)
c.2379+2746A>G (n.2379+2746A>G)
c.2309A>G (p.Lys770Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.50905525T>GCA389679168PYGLc.2411A>C (p.Lys804Thr)
c.2379+2746A>C (n.2379+2746A>C)
c.2309A>C (p.Lys770Thr)
14g.50905525T=CA2136411326PYGLc.2411A= (p.Lys804=)
c.2379+2746A= (n.2379+2746A=)
c.2309A= (p.Lys770=)
14g.50905526T>ACA389679169PYGLc.2410A>T (p.Lys804Ter)
c.2379+2745A>T (n.2379+2745A>T)
c.2308A>T (p.Lys770Ter)
14g.50905526T>CCA389679170PYGLc.2410A>G (p.Lys804Glu)
c.2379+2745A>G (n.2379+2745A>G)
c.2308A>G (p.Lys770Glu)
14g.50905526T>GCA389679171PYGLc.2410A>C (p.Lys804Gln)
c.2379+2745A>C (n.2379+2745A>C)
c.2308A>C (p.Lys770Gln)
14g.50905527G>ACA486372702PYGLc.2409C>T (p.Leu803=)
c.2379+2744C>T (n.2379+2744C>T)
c.2307C>T (p.Leu769=)
14g.50905527G>CCA7183103PYGLc.2409C>G (p.Leu803=)
c.2379+2744C>G (n.2379+2744C>G)
c.2307C>G (p.Leu769=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50905527G=CA2136411329PYGLc.2409C= (p.Leu803=)
c.2379+2744C= (n.2379+2744C=)
c.2307C= (p.Leu769=)
14g.50905527G>TCA486372709PYGLc.2409C>A (p.Leu803=)
c.2379+2744C>A (n.2379+2744C>A)
c.2307C>A (p.Leu769=)
14g.50905528A>CCA389679172PYGLc.2408T>G (p.Leu803Arg)
c.2379+2743T>G (n.2379+2743T>G)
c.2306T>G (p.Leu769Arg)
 COSMIC
14g.50905528A>GCA389679173PYGLc.2408T>C (p.Leu803Pro)
c.2379+2743T>C (n.2379+2743T>C)
c.2306T>C (p.Leu769Pro)
14g.50905528A>TCA389679174PYGLc.2408T>A (p.Leu803His)
c.2379+2743T>A (n.2379+2743T>A)
c.2306T>A (p.Leu769His)
14g.50905529G>ACA389679175PYGLc.2407C>T (p.Leu803Phe)
c.2379+2742C>T (n.2379+2742C>T)
c.2305C>T (p.Leu769Phe)
14g.50905529G>CCA389679176PYGLc.2407C>G (p.Leu803Val)
c.2379+2742C>G (n.2379+2742C>G)
c.2305C>G (p.Leu769Val)
14g.50905529G>TCA389679177PYGLc.2407C>A (p.Leu803Ile)
c.2379+2742C>A (n.2379+2742C>A)
c.2305C>A (p.Leu769Ile)
14g.50905530T>ACA486372738PYGLc.2406A>T (p.Val802=)
c.2379+2741A>T (n.2379+2741A>T)
c.2304A>T (p.Val768=)
14g.50905530T>CCA7183104PYGLc.2406A>G (p.Val802=)
c.2379+2741A>G (n.2379+2741A>G)
c.2304A>G (p.Val768=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905530T>GCA486372744PYGLc.2406A>C (p.Val802=)
c.2379+2741A>C (n.2379+2741A>C)
c.2304A>C (p.Val768=)
14g.50905530T=CA2136411331PYGLc.2406A= (p.Val802=)
c.2379+2741A= (n.2379+2741A=)
c.2304A= (p.Val768=)
14g.50905531delCA2624823614PYGLc.2405del (p.Val802AspfsTer5)
c.2379+2740del (n.2379+2740del)
c.2303del (p.Val768AspfsTer5)
 gnomAD v4
14g.50905531A>CCA389679178PYGLc.2405T>G (p.Val802Gly)
c.2379+2740T>G (n.2379+2740T>G)
c.2303T>G (p.Val768Gly)
14g.50905531A>GCA389679179PYGLc.2405T>C (p.Val802Ala)
c.2379+2740T>C (n.2379+2740T>C)
c.2303T>C (p.Val768Ala)
14g.50905531A>TCA389679180PYGLc.2405T>A (p.Val802Glu)
c.2379+2740T>A (n.2379+2740T>A)
c.2303T>A (p.Val768Glu)
14g.50905532C>ACA389679181PYGLc.2404G>T (p.Val802Leu)
c.2379+2739G>T (n.2379+2739G>T)
c.2302G>T (p.Val768Leu)
 dbSNP
14g.50905532C=CA2136411333PYGLc.2404G= (p.Val802=)
c.2379+2739G= (n.2379+2739G=)
c.2302G= (p.Val768=)
14g.50905532C>GCA389679182PYGLc.2404G>C (p.Val802Leu)
c.2379+2739G>C (n.2379+2739G>C)
c.2302G>C (p.Val768Leu)
14g.50905532C>TCA389679183PYGLc.2404G>A (p.Val802Ile)
c.2379+2739G>A (n.2379+2739G>A)
c.2302G>A (p.Val768Ile)
 dbSNP gnomAD v3 gnomAD v4
14g.50905533C>ACA389679184PYGLc.2403G>T (p.Met801Ile)
c.2379+2738G>T (n.2379+2738G>T)
c.2301G>T (p.Met767Ile)
14g.50905533C=CA2136411336PYGLc.2403G= (p.Met801=)
c.2379+2738G= (n.2379+2738G=)
c.2301G= (p.Met767=)
14g.50905533C>GCA389679185PYGLc.2403G>C (p.Met801Ile)
c.2379+2738G>C (n.2379+2738G>C)
c.2301G>C (p.Met767Ile)
14g.50905533C>TCA7183105PYGLc.2403G>A (p.Met801Ile)
c.2379+2738G>A (n.2379+2738G>A)
c.2301G>A (p.Met767Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905534A>CCA389679186PYGLc.2402T>G (p.Met801Arg)
c.2379+2737T>G (n.2379+2737T>G)
c.2300T>G (p.Met767Arg)
14g.50905534A>GCA389679187PYGLc.2402T>C (p.Met801Thr)
c.2379+2737T>C (n.2379+2737T>C)
c.2300T>C (p.Met767Thr)
 gnomAD v4
14g.50905534A>TCA389679188PYGLc.2402T>A (p.Met801Lys)
c.2379+2737T>A (n.2379+2737T>A)
c.2300T>A (p.Met767Lys)
14g.50905535T>ACA389679189PYGLc.2401A>T (p.Met801Leu)
c.2379+2736A>T (n.2379+2736A>T)
c.2299A>T (p.Met767Leu)
14g.50905535T>CCA7183106PYGLc.2401A>G (p.Met801Val)
c.2379+2736A>G (n.2379+2736A>G)
c.2299A>G (p.Met767Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905535T>GCA389679190PYGLc.2401A>C (p.Met801Leu)
c.2379+2736A>C (n.2379+2736A>C)
c.2299A>C (p.Met767Leu)
14g.50905535T=CA2136411340PYGLc.2401A= (p.Met801=)
c.2379+2736A= (n.2379+2736A=)
c.2299A= (p.Met767=)
14g.50905536T>ACA486372798PYGLc.2400A>T (p.Thr800=)
c.2379+2735A>T (n.2379+2735A>T)
c.2298A>T (p.Thr766=)
14g.50905536T>CCA486372800PYGLc.2400A>G (p.Thr800=)
c.2379+2735A>G (n.2379+2735A>G)
c.2298A>G (p.Thr766=)
14g.50905536T>GCA486372803PYGLc.2400A>C (p.Thr800=)
c.2379+2735A>C (n.2379+2735A>C)
c.2298A>C (p.Thr766=)
14g.50905537G>ACA389679191PYGLc.2399C>T (p.Thr800Ile)
c.2379+2734C>T (n.2379+2734C>T)
c.2297C>T (p.Thr766Ile)
14g.50905537G>CCA389679192PYGLc.2399C>G (p.Thr800Arg)
c.2379+2734C>G (n.2379+2734C>G)
c.2297C>G (p.Thr766Arg)
14g.50905537G>TCA389679193PYGLc.2399C>A (p.Thr800Lys)
c.2379+2734C>A (n.2379+2734C>A)
c.2297C>A (p.Thr766Lys)
14g.50905538T>ACA389679194PYGLc.2398A>T (p.Thr800Ser)
c.2379+2733A>T (n.2379+2733A>T)
c.2296A>T (p.Thr766Ser)
14g.50905538T>CCA389679195PYGLc.2398A>G (p.Thr800Ala)
c.2379+2733A>G (n.2379+2733A>G)
c.2296A>G (p.Thr766Ala)
14g.50905538T>GCA389679196PYGLc.2398A>C (p.Thr800Pro)
c.2379+2733A>C (n.2379+2733A>C)
c.2296A>C (p.Thr766Pro)
14g.50905539G>ACA486372823PYGLc.2397C>T (p.Asn799=)
c.2379+2732C>T (n.2379+2732C>T)
c.2295C>T (p.Asn765=)
14g.50905539G>CCA389679198PYGLc.2397C>G (p.Asn799Lys)
c.2379+2732C>G (n.2379+2732C>G)
c.2295C>G (p.Asn765Lys)
14g.50905539G>TCA389679197PYGLc.2397C>A (p.Asn799Lys)
c.2379+2732C>A (n.2379+2732C>A)
c.2295C>A (p.Asn765Lys)
14g.50905540T>ACA389679199PYGLc.2396A>T (p.Asn799Ile)
c.2379+2731A>T (n.2379+2731A>T)
c.2294A>T (p.Asn765Ile)
14g.50905540T>CCA389679200PYGLc.2396A>G (p.Asn799Ser)
c.2379+2731A>G (n.2379+2731A>G)
c.2294A>G (p.Asn765Ser)
14g.50905540T>GCA389679201PYGLc.2396A>C (p.Asn799Thr)
c.2379+2731A>C (n.2379+2731A>C)
c.2294A>C (p.Asn765Thr)
14g.50905541T>ACA389679202PYGLc.2395A>T (p.Asn799Tyr)
c.2379+2730A>T (n.2379+2730A>T)
c.2293A>T (p.Asn765Tyr)
14g.50905541T>CCA389679203PYGLc.2395A>G (p.Asn799Asp)
c.2379+2730A>G (n.2379+2730A>G)
c.2293A>G (p.Asn765Asp)
14g.50905541T>GCA389679204PYGLc.2395A>C (p.Asn799His)
c.2379+2730A>C (n.2379+2730A>C)
c.2293A>C (p.Asn765His)
14g.50905542C>ACA389679205PYGLc.2394G>T (p.Trp798Cys)
c.2379+2729G>T (n.2379+2729G>T)
c.2292G>T (p.Trp764Cys)
14g.50905542C>GCA389679206PYGLc.2394G>C (p.Trp798Cys)
c.2379+2729G>C (n.2379+2729G>C)
c.2292G>C (p.Trp764Cys)
14g.50905542C>TCA389679207PYGLc.2394G>A (p.Trp798Ter)
c.2379+2729G>A (n.2379+2729G>A)
c.2292G>A (p.Trp764Ter)
 gnomAD v4
14g.50905543C>ACA389679208PYGLc.2393G>T (p.Trp798Leu)
c.2379+2728G>T (n.2379+2728G>T)
c.2291G>T (p.Trp764Leu)
14g.50905543C>GCA389679209PYGLc.2393G>C (p.Trp798Ser)
c.2379+2728G>C (n.2379+2728G>C)
c.2291G>C (p.Trp764Ser)
14g.50905543C>TCA389679210PYGLc.2393G>A (p.Trp798Ter)
c.2379+2728G>A (n.2379+2728G>A)
c.2291G>A (p.Trp764Ter)
14g.50905544A=CA2136411344PYGLc.2392T= (p.Trp798=)
c.2379+2727T= (n.2379+2727T=)
c.2290T= (p.Trp764=)
14g.50905544A>CCA389679212PYGLc.2392T>G (p.Trp798Gly)
c.2379+2727T>G (n.2379+2727T>G)
c.2290T>G (p.Trp764Gly)
 dbSNP gnomAD v4
14g.50905544A>GCA389679213PYGLc.2392T>C (p.Trp798Arg)
c.2379+2727T>C (n.2379+2727T>C)
c.2290T>C (p.Trp764Arg)
14g.50905544A>TCA389679211PYGLc.2392T>A (p.Trp798Arg)
c.2379+2727T>A (n.2379+2727T>A)
c.2290T>A (p.Trp764Arg)
14g.50905545G>ACA486372871PYGLc.2391C>T (p.Ala797=)
c.2379+2726C>T (n.2379+2726C>T)
c.2289C>T (p.Ala763=)
14g.50905545G>CCA486372869PYGLc.2391C>G (p.Ala797=)
c.2379+2726C>G (n.2379+2726C>G)
c.2289C>G (p.Ala763=)
14g.50905545G>TCA486372868PYGLc.2391C>A (p.Ala797=)
c.2379+2726C>A (n.2379+2726C>A)
c.2289C>A (p.Ala763=)
14g.50905546G>ACA389679216PYGLc.2390C>T (p.Ala797Val)
c.2379+2725C>T (n.2379+2725C>T)
c.2288C>T (p.Ala763Val)
14g.50905546G>CCA389679214PYGLc.2390C>G (p.Ala797Gly)
c.2379+2725C>G (n.2379+2725C>G)
c.2288C>G (p.Ala763Gly)
14g.50905546G>TCA389679215PYGLc.2390C>A (p.Ala797Asp)
c.2379+2725C>A (n.2379+2725C>A)
c.2288C>A (p.Ala763Asp)
14g.50905547C>ACA389679217PYGLc.2389G>T (p.Ala797Ser)
c.2379+2724G>T (n.2379+2724G>T)
c.2287G>T (p.Ala763Ser)
 dbSNP
14g.50905547C=CA2136411346PYGLc.2389G= (p.Ala797=)
c.2379+2724G= (n.2379+2724G=)
c.2287G= (p.Ala763=)
14g.50905547C>GCA389679218PYGLc.2389G>C (p.Ala797Pro)
c.2379+2724G>C (n.2379+2724G>C)
c.2287G>C (p.Ala763Pro)
 gnomAD v4
14g.50905547C>TCA260818925PYGLc.2389G>A (p.Ala797Thr)
c.2379+2724G>A (n.2379+2724G>A)
c.2287G>A (p.Ala763Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.50905548C>ACA389679219PYGLc.2388G>T (p.Lys796Asn)
c.2379+2723G>T (n.2379+2723G>T)
c.2286G>T (p.Lys762Asn)
14g.50905548C>GCA389679220PYGLc.2388G>C (p.Lys796Asn)
c.2379+2723G>C (n.2379+2723G>C)
c.2286G>C (p.Lys762Asn)
14g.50905548C>TCA486372880PYGLc.2388G>A (p.Lys796=)
c.2379+2723G>A (n.2379+2723G>A)
c.2286G>A (p.Lys762=)
14g.50905549T>ACA389679221PYGLc.2387A>T (p.Lys796Met)
c.2379+2722A>T (n.2379+2722A>T)
c.2285A>T (p.Lys762Met)
14g.50905549T>CCA389679222PYGLc.2387A>G (p.Lys796Arg)
c.2379+2722A>G (n.2379+2722A>G)
c.2285A>G (p.Lys762Arg)
14g.50905549T>GCA389679223PYGLc.2387A>C (p.Lys796Thr)
c.2379+2722A>C (n.2379+2722A>C)
c.2285A>C (p.Lys762Thr)
14g.50905550T>ACA389679224PYGLc.2386A>T (p.Lys796Ter)
c.2379+2721A>T (n.2379+2721A>T)
c.2284A>T (p.Lys762Ter)
14g.50905550T>CCA389679225PYGLc.2386A>G (p.Lys796Glu)
c.2379+2721A>G (n.2379+2721A>G)
c.2284A>G (p.Lys762Glu)
14g.50905550T>GCA389679226PYGLc.2386A>C (p.Lys796Gln)
c.2379+2721A>C (n.2379+2721A>C)
c.2284A>C (p.Lys762Gln)
14g.50905551T>ACA486372886PYGLc.2385A>T (p.Pro795=)
c.2379+2720A>T (n.2379+2720A>T)
c.2283A>T (p.Pro761=)
14g.50905551T>CCA486372892PYGLc.2385A>G (p.Pro795=)
c.2379+2720A>G (n.2379+2720A>G)
c.2283A>G (p.Pro761=)
14g.50905551T>GCA486372890PYGLc.2385A>C (p.Pro795=)
c.2379+2720A>C (n.2379+2720A>C)
c.2283A>C (p.Pro761=)
 dbSNP gnomAD v3 gnomAD v4
14g.50905551T=CA2136411349PYGLc.2385A= (p.Pro795=)
c.2379+2720A= (n.2379+2720A=)
c.2283A= (p.Pro761=)
14g.50905552G>ACA389679227PYGLc.2384C>T (p.Pro795Leu)
c.2379+2719C>T (n.2379+2719C>T)
c.2282C>T (p.Pro761Leu)
14g.50905552G>CCA389679229PYGLc.2384C>G (p.Pro795Arg)
c.2379+2719C>G (n.2379+2719C>G)
c.2282C>G (p.Pro761Arg)
14g.50905552G>TCA389679228PYGLc.2384C>A (p.Pro795Gln)
c.2379+2719C>A (n.2379+2719C>A)
c.2282C>A (p.Pro761Gln)
14g.50905553G>ACA389679230PYGLc.2383C>T (p.Pro795Ser)
c.2379+2718C>T (n.2379+2718C>T)
c.2281C>T (p.Pro761Ser)
14g.50905553G>CCA389679231PYGLc.2383C>G (p.Pro795Ala)
c.2379+2718C>G (n.2379+2718C>G)
c.2281C>G (p.Pro761Ala)
14g.50905553G>TCA389679232PYGLc.2383C>A (p.Pro795Thr)
c.2379+2718C>A (n.2379+2718C>A)
c.2281C>A (p.Pro761Thr)
14g.50905554A=CA2136411351PYGLc.2382T= (p.Asn794=)
c.2379+2717T= (n.2379+2717T=)
c.2280T= (p.Asn760=)
14g.50905554A>CCA260818929PYGLc.2382T>G (p.Asn794Lys)
c.2379+2717T>G (n.2379+2717T>G)
c.2280T>G (p.Asn760Lys)
 dbSNP
14g.50905554A>GCA486372906PYGLc.2382T>C (p.Asn794=)
c.2379+2717T>C (n.2379+2717T>C)
c.2280T>C (p.Asn760=)
14g.50905554A>TCA389679233PYGLc.2382T>A (p.Asn794Lys)
c.2379+2717T>A (n.2379+2717T>A)
c.2280T>A (p.Asn760Lys)
14g.50905555T>ACA389679234PYGLc.2381A>T (p.Asn794Ile)
c.2379+2716A>T (n.2379+2716A>T)
c.2279A>T (p.Asn760Ile)
14g.50905555T>CCA389679235PYGLc.2381A>G (p.Asn794Ser)
c.2379+2716A>G (n.2379+2716A>G)
c.2279A>G (p.Asn760Ser)
 gnomAD v4
14g.50905555T>GCA389679236PYGLc.2381A>C (p.Asn794Thr)
c.2379+2716A>C (n.2379+2716A>C)
c.2279A>C (p.Asn760Thr)
14g.50905556T>ACA389679237PYGLc.2380A>T (p.Asn794Tyr)
c.2379+2715A>T (n.2379+2715A>T)
c.2278A>T (p.Asn760Tyr)
14g.50905556T>CCA389679238PYGLc.2380A>G (p.Asn794Asp)
c.2379+2715A>G (n.2379+2715A>G)
c.2278A>G (p.Asn760Asp)
14g.50905556T>GCA389679239PYGLc.2380A>C (p.Asn794His)
c.2379+2715A>C (n.2379+2715A>C)
c.2278A>C (p.Asn760His)
14g.50905557C>ACA389679241PYGLc.2380-1G>T (n.2380-1G>T)
c.2379+2714G>T (n.2379+2714G>T)
c.2278-1G>T (n.2278-1G>T)
 gnomAD v4 COSMIC
14g.50905557C=CA2136411353PYGLc.2380-1G= (n.2380-1G=)
c.2379+2714G= (n.2379+2714G=)
c.2278-1G= (n.2278-1G=)
14g.50905557C>GCA389679242PYGLc.2380-1G>C (n.2380-1G>C)
c.2379+2714G>C (n.2379+2714G>C)
c.2278-1G>C (n.2278-1G>C)
14g.50905557C>TCA389679240PYGLc.2380-1G>A (n.2380-1G>A)
c.2379+2714G>A (n.2379+2714G>A)
c.2278-1G>A (n.2278-1G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.50905558T>ACA389679243PYGLc.2380-2A>T (n.2380-2A>T)
c.2379+2713A>T (n.2379+2713A>T)
c.2278-2A>T (n.2278-2A>T)
14g.50905558T>CCA389679244PYGLc.2380-2A>G (n.2380-2A>G)
c.2379+2713A>G (n.2379+2713A>G)
c.2278-2A>G (n.2278-2A>G)
14g.50905558T>GCA389679245PYGLc.2380-2A>C (n.2380-2A>C)
c.2379+2713A>C (n.2379+2713A>C)
c.2278-2A>C (n.2278-2A>C)
14g.50905559G>ACA7183107PYGLc.2380-3C>T (n.2380-3C>T)
c.2379+2712C>T (n.2379+2712C>T)
c.2278-3C>T (n.2278-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50905559G=CA2136411355PYGLc.2380-3C= (n.2380-3C=)
c.2379+2712C= (n.2379+2712C=)
c.2278-3C= (n.2278-3C=)
14g.50905561_50905564delinsAAACCA2136411357PYGLc.2380-8_2380-5delinsGTTT (n.2380-8_2380-5delinsGTTT)
c.2379+2707_2379+2710delinsGTTT (n.2379+2707_2379+2710delinsGTTT)
c.2278-8_2278-5delinsGTTT (n.2278-8_2278-5delinsGTTT)
14g.50905562A=CA2136411359PYGLc.2380-6T= (n.2380-6T=)
c.2379+2709T= (n.2379+2709T=)
c.2278-6T= (n.2278-6T=)
14g.50905562A>GCA7183108PYGLc.2380-6T>C (n.2380-6T>C)
c.2379+2709T>C (n.2379+2709T>C)
c.2278-6T>C (n.2278-6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50905566_50905568delCA614275178PYGLc.2380-8_2380-6del (n.2380-8_2380-6del)
c.2379+2707_2379+2709del (n.2379+2707_2379+2709del)
c.2278-8_2278-6del (n.2278-8_2278-6del)
 dbSNP gnomAD v2 gnomAD v4
14g.50905564C>TCA2624823697PYGLc.2380-8G>A (n.2380-8G>A)
c.2379+2707G>A (n.2379+2707G>A)
c.2278-8G>A (n.2278-8G>A)
 gnomAD v4
14g.50905565A=CA2136411364PYGLc.2380-9T= (n.2380-9T=)
c.2379+2706T= (n.2379+2706T=)
c.2278-9T= (n.2278-9T=)
14g.50905565A>GCA7183109PYGLc.2380-9T>C (n.2380-9T>C)
c.2379+2706T>C (n.2379+2706T>C)
c.2278-9T>C (n.2278-9T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905567C>TCA2541824033PYGLc.2380-11G>A (n.2380-11G>A)
c.2379+2704G>A (n.2379+2704G>A)
c.2278-11G>A (n.2278-11G>A)
14g.50905568A=CA2136411368PYGLc.2380-12T= (n.2380-12T=)
c.2379+2703T= (n.2379+2703T=)
c.2278-12T= (n.2278-12T=)
14g.50905568A>GCA7183110PYGLc.2380-12T>C (n.2380-12T>C)
c.2379+2703T>C (n.2379+2703T>C)
c.2278-12T>C (n.2278-12T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905569T>CCA7183111PYGLc.2380-13A>G (n.2380-13A>G)
c.2379+2702A>G (n.2379+2702A>G)
c.2278-13A>G (n.2278-13A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50905569T=CA2136411370PYGLc.2380-13A= (n.2380-13A=)
c.2379+2702A= (n.2379+2702A=)
c.2278-13A= (n.2278-13A=)
14g.50905570A>GCA2624823709PYGLc.2380-14T>C (n.2380-14T>C)
c.2379+2701T>C (n.2379+2701T>C)
c.2278-14T>C (n.2278-14T>C)
 dbSNP gnomAD v4
14g.50905571T>CCA10634937PYGLc.2380-15A>G (n.2380-15A>G)
c.2379+2700A>G (n.2379+2700A>G)
c.2278-15A>G (n.2278-15A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.50905571T=CA2136411373PYGLc.2380-15A= (n.2380-15A=)
c.2379+2700A= (n.2379+2700A=)
c.2278-15A= (n.2278-15A=)
14g.50905574A=CA2136411378PYGLc.2380-18T= (n.2380-18T=)
c.2379+2697T= (n.2379+2697T=)
c.2278-18T= (n.2278-18T=)
14g.50905574A>GCA614275179PYGLc.2380-18T>C (n.2380-18T>C)
c.2379+2697T>C (n.2379+2697T>C)
c.2278-18T>C (n.2278-18T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50905575T>CCA614275180PYGLc.2380-19A>G (n.2380-19A>G)
c.2379+2696A>G (n.2379+2696A>G)
c.2278-19A>G (n.2278-19A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50905575T=CA2136411382PYGLc.2380-19A= (n.2380-19A=)
c.2379+2696A= (n.2379+2696A=)
c.2278-19A= (n.2278-19A=)
14g.50905576A>GCA2801553805PYGLc.2380-20T>C (n.2380-20T>C)
c.2379+2695T>C (n.2379+2695T>C)
c.2278-20T>C (n.2278-20T>C)
14g.50905577T>CCA2624823724PYGLc.2380-21A>G (n.2380-21A>G)
c.2379+2694A>G (n.2379+2694A>G)
c.2278-21A>G (n.2278-21A>G)
 gnomAD v4
14g.50905578A=CA2136411384PYGLc.2380-22T= (n.2380-22T=)
c.2379+2693T= (n.2379+2693T=)
c.2278-22T= (n.2278-22T=)
14g.50905578A>GCA614275181PYGLc.2380-22T>C (n.2380-22T>C)
c.2379+2693T>C (n.2379+2693T>C)
c.2278-22T>C (n.2278-22T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.50905578dupCA2624823729PYGLc.2380-22dup (n.2380-22dup)
c.2379+2693dup (n.2379+2693dup)
c.2278-22dup (n.2278-22dup)
 gnomAD v4
14g.50905579C=CA2136411386PYGLc.2380-23G= (n.2380-23G=)
c.2379+2692G= (n.2379+2692G=)
c.2278-23G= (n.2278-23G=)
14g.50905579C>TCA614275182PYGLc.2380-23G>A (n.2380-23G>A)
c.2379+2692G>A (n.2379+2692G>A)
c.2278-23G>A (n.2278-23G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.50905580A=CA2136411390PYGLc.2380-24T= (n.2380-24T=)
c.2379+2691T= (n.2379+2691T=)
c.2278-24T= (n.2278-24T=)
14g.50905580A>CCA2801553806PYGLc.2380-24T>G (n.2380-24T>G)
c.2379+2691T>G (n.2379+2691T>G)
c.2278-24T>G (n.2278-24T>G)
14g.50905580A>GCA706601844PYGLc.2380-24T>C (n.2380-24T>C)
c.2379+2691T>C (n.2379+2691T>C)
c.2278-24T>C (n.2278-24T>C)
 dbSNP gnomAD v3 gnomAD v4
14g.50905580A>TCA614275183PYGLc.2380-24T>A (n.2380-24T>A)
c.2379+2691T>A (n.2379+2691T>A)
c.2278-24T>A (n.2278-24T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50905581G>ACA2136411392PYGLc.2380-25C>T (n.2380-25C>T)
c.2379+2690C>T (n.2379+2690C>T)
c.2278-25C>T (n.2278-25C>T)
 dbSNP gnomAD v4
14g.50905581G=CA2136411391PYGLc.2380-25C= (n.2380-25C=)
c.2379+2690C= (n.2379+2690C=)
c.2278-25C= (n.2278-25C=)
14g.50905582C>GCA2729830926PYGLc.2380-26G>C (n.2380-26G>C)
c.2379+2689G>C (n.2379+2689G>C)
c.2278-26G>C (n.2278-26G>C)
 dbSNP
14g.50905582C>TCA2624823745PYGLc.2380-26G>A (n.2380-26G>A)
c.2379+2689G>A (n.2379+2689G>A)
c.2278-26G>A (n.2278-26G>A)
 gnomAD v4
14g.50905583C>ACA614275184PYGLc.2380-27G>T (n.2380-27G>T)
c.2379+2688G>T (n.2379+2688G>T)
c.2278-27G>T (n.2278-27G>T)
 dbSNP gnomAD v2 gnomAD v4
14g.50905583C=CA2136411394PYGLc.2380-27G= (n.2380-27G=)
c.2379+2688G= (n.2379+2688G=)
c.2278-27G= (n.2278-27G=)
14g.50905583C>GCA2624823748PYGLc.2380-27G>C (n.2380-27G>C)
c.2379+2688G>C (n.2379+2688G>C)
c.2278-27G>C (n.2278-27G>C)
 gnomAD v4
14g.50905583C>TCA2624823752PYGLc.2380-27G>A (n.2380-27G>A)
c.2379+2688G>A (n.2379+2688G>A)
c.2278-27G>A (n.2278-27G>A)
 gnomAD v4
14g.50905584C>TCA2624823755PYGLc.2380-28G>A (n.2380-28G>A)
c.2379+2687G>A (n.2379+2687G>A)
c.2278-28G>A (n.2278-28G>A)
 gnomAD v4
14g.50905588G>ACA2575525141PYGLc.2380-32C>T (n.2380-32C>T)
c.2379+2683C>T (n.2379+2683C>T)
c.2278-32C>T (n.2278-32C>T)
 gnomAD v4

Number of alleles fetched