Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.15644547A>CCA351606841BTDc.631A>C (p.Thr211Pro)
c.399+2490A>C (n.399+2490A>C)
c.165+2490A>C (n.165+2490A>C)
c.691A>C (p.Thr231Pro)
c.697A>C (p.Thr233Pro)
c.409A>C (p.Thr137Pro)
c.*2409A>C (n.*2409A>C)
3g.15644547A>GCA351606842BTDc.631A>G (p.Thr211Ala)
c.399+2490A>G (n.399+2490A>G)
c.165+2490A>G (n.165+2490A>G)
c.691A>G (p.Thr231Ala)
c.697A>G (p.Thr233Ala)
c.409A>G (p.Thr137Ala)
c.*2409A>G (n.*2409A>G)
3g.15644547A>TCA351606843BTDc.631A>T (p.Thr211Ser)
c.399+2490A>T (n.399+2490A>T)
c.165+2490A>T (n.165+2490A>T)
c.691A>T (p.Thr231Ser)
c.697A>T (p.Thr233Ser)
c.409A>T (p.Thr137Ser)
c.*2409A>T (n.*2409A>T)
3g.15644547_15644548delinsACCA1347663963BTDc.631_632delinsAC (p.Thr211=)
c.399+2490_399+2491delinsAC (n.399+2490_399+2491delinsAC)
c.165+2490_165+2491delinsAC (n.165+2490_165+2491delinsAC)
c.691_692delinsAC (p.Thr231=)
c.697_698delinsAC (p.Thr233=)
c.409_410delinsAC (p.Thr137=)
c.*2409_*2410delinsAC (n.*2409_*2410delinsAC)
3g.15644548C>ACA351606844BTDc.632C>A (p.Thr211Asn)
c.399+2491C>A (n.399+2491C>A)
c.165+2491C>A (n.165+2491C>A)
c.692C>A (p.Thr231Asn)
c.698C>A (p.Thr233Asn)
c.410C>A (p.Thr137Asn)
c.*2410C>A (n.*2410C>A)
3g.15644548C=CA1347663973BTDc.632C= (p.Thr211=)
c.399+2491C= (n.399+2491C=)
c.165+2491C= (n.165+2491C=)
c.692C= (p.Thr231=)
c.698C= (p.Thr233=)
c.410C= (p.Thr137=)
c.*2410C= (n.*2410C=)
3g.15644548C>GCA351606845BTDc.632C>G (p.Thr211Ser)
c.399+2491C>G (n.399+2491C>G)
c.165+2491C>G (n.165+2491C>G)
c.692C>G (p.Thr231Ser)
c.698C>G (p.Thr233Ser)
c.410C>G (p.Thr137Ser)
c.*2410C>G (n.*2410C>G)
3g.15644548C>TCA2277361BTDc.632C>T (p.Thr211Ile)
c.399+2491C>T (n.399+2491C>T)
c.165+2491C>T (n.165+2491C>T)
c.692C>T (p.Thr231Ile)
c.698C>T (p.Thr233Ile)
c.410C>T (p.Thr137Ile)
c.*2410C>T (n.*2410C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644549delCA658761158BTDc.633del (p.Phe212LeufsTer?)
c.399+2492del (n.399+2492del)
c.165+2492del (n.165+2492del)
c.693del (p.Phe232LeufsTer?)
c.699del (p.Phe234LeufsTer?)
c.411del (p.Phe138LeufsTer?)
c.*2411del (n.*2411del)
3g.15644549C>ACA432819123BTDc.633C>A (p.Thr211=)
c.399+2492C>A (n.399+2492C>A)
c.165+2492C>A (n.165+2492C>A)
c.693C>A (p.Thr231=)
c.699C>A (p.Thr233=)
c.411C>A (p.Thr137=)
c.*2411C>A (n.*2411C>A)
3g.15644549C>GCA432819124BTDc.633C>G (p.Thr211=)
c.399+2492C>G (n.399+2492C>G)
c.165+2492C>G (n.165+2492C>G)
c.693C>G (p.Thr231=)
c.699C>G (p.Thr233=)
c.411C>G (p.Thr137=)
c.*2411C>G (n.*2411C>G)
3g.15644549C>TCA432819125BTDc.633C>T (p.Thr211=)
c.399+2492C>T (n.399+2492C>T)
c.165+2492C>T (n.165+2492C>T)
c.693C>T (p.Thr231=)
c.699C>T (p.Thr233=)
c.411C>T (p.Thr137=)
c.*2411C>T (n.*2411C>T)
3g.15644550T>ACA351606846BTDc.634T>A (p.Phe212Ile)
c.399+2493T>A (n.399+2493T>A)
c.165+2493T>A (n.165+2493T>A)
c.694T>A (p.Phe232Ile)
c.700T>A (p.Phe234Ile)
c.412T>A (p.Phe138Ile)
c.*2412T>A (n.*2412T>A)
3g.15644550T>CCA351606847BTDc.634T>C (p.Phe212Leu)
c.399+2493T>C (n.399+2493T>C)
c.165+2493T>C (n.165+2493T>C)
c.694T>C (p.Phe232Leu)
c.700T>C (p.Phe234Leu)
c.412T>C (p.Phe138Leu)
c.*2412T>C (n.*2412T>C)
3g.15644550T>GCA351606848BTDc.634T>G (p.Phe212Val)
c.399+2493T>G (n.399+2493T>G)
c.165+2493T>G (n.165+2493T>G)
c.694T>G (p.Phe232Val)
c.700T>G (p.Phe234Val)
c.412T>G (p.Phe138Val)
c.*2412T>G (n.*2412T>G)
3g.15644551T>ACA351606849BTDc.635T>A (p.Phe212Tyr)
c.399+2494T>A (n.399+2494T>A)
c.165+2494T>A (n.165+2494T>A)
c.695T>A (p.Phe232Tyr)
c.701T>A (p.Phe234Tyr)
c.413T>A (p.Phe138Tyr)
c.*2413T>A (n.*2413T>A)
3g.15644551T>CCA351606850BTDc.635T>C (p.Phe212Ser)
c.399+2494T>C (n.399+2494T>C)
c.165+2494T>C (n.165+2494T>C)
c.695T>C (p.Phe232Ser)
c.701T>C (p.Phe234Ser)
c.413T>C (p.Phe138Ser)
c.*2413T>C (n.*2413T>C)
3g.15644551T>GCA2277362BTDc.635T>G (p.Phe212Cys)
c.399+2494T>G (n.399+2494T>G)
c.165+2494T>G (n.165+2494T>G)
c.695T>G (p.Phe232Cys)
c.701T>G (p.Phe234Cys)
c.413T>G (p.Phe138Cys)
c.*2413T>G (n.*2413T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644551T=CA1347663981BTDc.635T= (p.Phe212=)
c.399+2494T= (n.399+2494T=)
c.165+2494T= (n.165+2494T=)
c.695T= (p.Phe232=)
c.701T= (p.Phe234=)
c.413T= (p.Phe138=)
c.*2413T= (n.*2413T=)
3g.15644552T>ACA351606851BTDc.636T>A (p.Phe212Leu)
c.399+2495T>A (n.399+2495T>A)
c.165+2495T>A (n.165+2495T>A)
c.696T>A (p.Phe232Leu)
c.702T>A (p.Phe234Leu)
c.414T>A (p.Phe138Leu)
c.*2414T>A (n.*2414T>A)
3g.15644552T>CCA432819126BTDc.636T>C (p.Phe212=)
c.399+2495T>C (n.399+2495T>C)
c.165+2495T>C (n.165+2495T>C)
c.696T>C (p.Phe232=)
c.702T>C (p.Phe234=)
c.414T>C (p.Phe138=)
c.*2414T>C (n.*2414T>C)
3g.15644552T>GCA351606852BTDc.636T>G (p.Phe212Leu)
c.399+2495T>G (n.399+2495T>G)
c.165+2495T>G (n.165+2495T>G)
c.696T>G (p.Phe232Leu)
c.702T>G (p.Phe234Leu)
c.414T>G (p.Phe138Leu)
c.*2414T>G (n.*2414T>G)
3g.15644553G>ACA351606853BTDc.637G>A (p.Asp213Asn)
c.399+2496G>A (n.399+2496G>A)
c.165+2496G>A (n.165+2496G>A)
c.697G>A (p.Asp233Asn)
c.703G>A (p.Asp235Asn)
c.415G>A (p.Asp139Asn)
c.*2415G>A (n.*2415G>A)
3g.15644553G>CCA351606854BTDc.637G>C (p.Asp213His)
c.399+2496G>C (n.399+2496G>C)
c.165+2496G>C (n.165+2496G>C)
c.697G>C (p.Asp233His)
c.703G>C (p.Asp235His)
c.415G>C (p.Asp139His)
c.*2415G>C (n.*2415G>C)
3g.15644553G>TCA351606855BTDc.637G>T (p.Asp213Tyr)
c.399+2496G>T (n.399+2496G>T)
c.165+2496G>T (n.165+2496G>T)
c.697G>T (p.Asp233Tyr)
c.703G>T (p.Asp235Tyr)
c.415G>T (p.Asp139Tyr)
c.*2415G>T (n.*2415G>T)
3g.15644554A>CCA351606856BTDc.638A>C (p.Asp213Ala)
c.399+2497A>C (n.399+2497A>C)
c.165+2497A>C (n.165+2497A>C)
c.698A>C (p.Asp233Ala)
c.704A>C (p.Asp235Ala)
c.416A>C (p.Asp139Ala)
c.*2416A>C (n.*2416A>C)
3g.15644554A>GCA351606857BTDc.638A>G (p.Asp213Gly)
c.399+2497A>G (n.399+2497A>G)
c.165+2497A>G (n.165+2497A>G)
c.698A>G (p.Asp233Gly)
c.704A>G (p.Asp235Gly)
c.416A>G (p.Asp139Gly)
c.*2416A>G (n.*2416A>G)
3g.15644554A>TCA351606858BTDc.638A>T (p.Asp213Val)
c.399+2497A>T (n.399+2497A>T)
c.165+2497A>T (n.165+2497A>T)
c.698A>T (p.Asp233Val)
c.704A>T (p.Asp235Val)
c.416A>T (p.Asp139Val)
c.*2416A>T (n.*2416A>T)
3g.15644555T>ACA351606859BTDc.639T>A (p.Asp213Glu)
c.399+2498T>A (n.399+2498T>A)
c.165+2498T>A (n.165+2498T>A)
c.699T>A (p.Asp233Glu)
c.705T>A (p.Asp235Glu)
c.417T>A (p.Asp139Glu)
c.*2417T>A (n.*2417T>A)
3g.15644555T>CCA432819130BTDc.639T>C (p.Asp213=)
c.399+2498T>C (n.399+2498T>C)
c.165+2498T>C (n.165+2498T>C)
c.699T>C (p.Asp233=)
c.705T>C (p.Asp235=)
c.417T>C (p.Asp139=)
c.*2417T>C (n.*2417T>C)
3g.15644555T>GCA351606860BTDc.639T>G (p.Asp213Glu)
c.399+2498T>G (n.399+2498T>G)
c.165+2498T>G (n.165+2498T>G)
c.699T>G (p.Asp233Glu)
c.705T>G (p.Asp235Glu)
c.417T>G (p.Asp139Glu)
c.*2417T>G (n.*2417T>G)
3g.15644556A>CCA351606861BTDc.640A>C (p.Thr214Pro)
c.399+2499A>C (n.399+2499A>C)
c.165+2499A>C (n.165+2499A>C)
c.700A>C (p.Thr234Pro)
c.706A>C (p.Thr236Pro)
c.418A>C (p.Thr140Pro)
c.*2418A>C (n.*2418A>C)
3g.15644556A>GCA351606862BTDc.640A>G (p.Thr214Ala)
c.399+2499A>G (n.399+2499A>G)
c.165+2499A>G (n.165+2499A>G)
c.700A>G (p.Thr234Ala)
c.706A>G (p.Thr236Ala)
c.418A>G (p.Thr140Ala)
c.*2418A>G (n.*2418A>G)
 ClinVar
3g.15644556A>TCA351606863BTDc.640A>T (p.Thr214Ser)
c.399+2499A>T (n.399+2499A>T)
c.165+2499A>T (n.165+2499A>T)
c.700A>T (p.Thr234Ser)
c.706A>T (p.Thr236Ser)
c.418A>T (p.Thr140Ser)
c.*2418A>T (n.*2418A>T)
3g.15644557C>ACA351606865BTDc.641C>A (p.Thr214Asn)
c.399+2500C>A (n.399+2500C>A)
c.165+2500C>A (n.165+2500C>A)
c.701C>A (p.Thr234Asn)
c.707C>A (p.Thr236Asn)
c.419C>A (p.Thr140Asn)
c.*2419C>A (n.*2419C>A)
3g.15644557C=CA1347663985BTDc.641C= (p.Thr214=)
c.399+2500C= (n.399+2500C=)
c.165+2500C= (n.165+2500C=)
c.701C= (p.Thr234=)
c.707C= (p.Thr236=)
c.419C= (p.Thr140=)
c.*2419C= (n.*2419C=)
3g.15644557C>GCA351606864BTDc.641C>G (p.Thr214Ser)
c.399+2500C>G (n.399+2500C>G)
c.165+2500C>G (n.165+2500C>G)
c.701C>G (p.Thr234Ser)
c.707C>G (p.Thr236Ser)
c.419C>G (p.Thr140Ser)
c.*2419C>G (n.*2419C>G)
 dbSNP gnomAD v2
3g.15644557C>TCA278439BTDc.641C>T (p.Thr214Ile)
c.399+2500C>T (n.399+2500C>T)
c.165+2500C>T (n.165+2500C>T)
c.701C>T (p.Thr234Ile)
c.707C>T (p.Thr236Ile)
c.419C>T (p.Thr140Ile)
c.*2419C>T (n.*2419C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644558C>ACA432819134BTDc.642C>A (p.Thr214=)
c.399+2501C>A (n.399+2501C>A)
c.165+2501C>A (n.165+2501C>A)
c.702C>A (p.Thr234=)
c.708C>A (p.Thr236=)
c.420C>A (p.Thr140=)
c.*2420C>A (n.*2420C>A)
 gnomAD v4
3g.15644558C>GCA432819136BTDc.642C>G (p.Thr214=)
c.399+2501C>G (n.399+2501C>G)
c.165+2501C>G (n.165+2501C>G)
c.702C>G (p.Thr234=)
c.708C>G (p.Thr236=)
c.420C>G (p.Thr140=)
c.*2420C>G (n.*2420C>G)
3g.15644558C>TCA432819135BTDc.642C>T (p.Thr214=)
c.399+2501C>T (n.399+2501C>T)
c.165+2501C>T (n.165+2501C>T)
c.702C>T (p.Thr234=)
c.708C>T (p.Thr236=)
c.420C>T (p.Thr140=)
c.*2420C>T (n.*2420C>T)
 ClinVar
3g.15644559C>ACA351606866BTDc.643C>A (p.Pro215Thr)
c.399+2502C>A (n.399+2502C>A)
c.165+2502C>A (n.165+2502C>A)
c.703C>A (p.Pro235Thr)
c.709C>A (p.Pro237Thr)
c.421C>A (p.Pro141Thr)
c.*2421C>A (n.*2421C>A)
3g.15644559C=CA1347663992BTDc.643C= (p.Pro215=)
c.399+2502C= (n.399+2502C=)
c.165+2502C= (n.165+2502C=)
c.703C= (p.Pro235=)
c.709C= (p.Pro237=)
c.421C= (p.Pro141=)
c.*2421C= (n.*2421C=)
3g.15644559C>GCA351606867BTDc.643C>G (p.Pro215Ala)
c.399+2502C>G (n.399+2502C>G)
c.165+2502C>G (n.165+2502C>G)
c.703C>G (p.Pro235Ala)
c.709C>G (p.Pro237Ala)
c.421C>G (p.Pro141Ala)
c.*2421C>G (n.*2421C>G)
3g.15644559C>TCA351606868BTDc.643C>T (p.Pro215Ser)
c.399+2502C>T (n.399+2502C>T)
c.165+2502C>T (n.165+2502C>T)
c.703C>T (p.Pro235Ser)
c.709C>T (p.Pro237Ser)
c.421C>T (p.Pro141Ser)
c.*2421C>T (n.*2421C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.15644560C>ACA351606869BTDc.644C>A (p.Pro215His)
c.399+2503C>A (n.399+2503C>A)
c.165+2503C>A (n.165+2503C>A)
c.704C>A (p.Pro235His)
c.710C>A (p.Pro237His)
c.422C>A (p.Pro141His)
c.*2422C>A (n.*2422C>A)
 gnomAD v4
3g.15644560C=CA1347663997BTDc.644C= (p.Pro215=)
c.399+2503C= (n.399+2503C=)
c.165+2503C= (n.165+2503C=)
c.704C= (p.Pro235=)
c.710C= (p.Pro237=)
c.422C= (p.Pro141=)
c.*2422C= (n.*2422C=)
3g.15644560C>GCA70621903BTDc.644C>G (p.Pro215Arg)
c.399+2503C>G (n.399+2503C>G)
c.165+2503C>G (n.165+2503C>G)
c.704C>G (p.Pro235Arg)
c.710C>G (p.Pro237Arg)
c.422C>G (p.Pro141Arg)
c.*2422C>G (n.*2422C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.15644560C>TCA351606870BTDc.644C>T (p.Pro215Leu)
c.399+2503C>T (n.399+2503C>T)
c.165+2503C>T (n.165+2503C>T)
c.704C>T (p.Pro235Leu)
c.710C>T (p.Pro237Leu)
c.422C>T (p.Pro141Leu)
c.*2422C>T (n.*2422C>T)
 gnomAD v4
3g.15644561C>ACA2277363BTDc.645C>A (p.Pro215=)
c.399+2504C>A (n.399+2504C>A)
c.165+2504C>A (n.165+2504C>A)
c.705C>A (p.Pro235=)
c.711C>A (p.Pro237=)
c.423C>A (p.Pro141=)
c.*2423C>A (n.*2423C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644561C=CA1347664004BTDc.645C= (p.Pro215=)
c.399+2504C= (n.399+2504C=)
c.165+2504C= (n.165+2504C=)
c.705C= (p.Pro235=)
c.711C= (p.Pro237=)
c.423C= (p.Pro141=)
c.*2423C= (n.*2423C=)
3g.15644561C>GCA432819144BTDc.645C>G (p.Pro215=)
c.399+2504C>G (n.399+2504C>G)
c.165+2504C>G (n.165+2504C>G)
c.705C>G (p.Pro235=)
c.711C>G (p.Pro237=)
c.423C>G (p.Pro141=)
c.*2423C>G (n.*2423C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644561C>TCA432819145BTDc.645C>T (p.Pro215=)
c.399+2504C>T (n.399+2504C>T)
c.165+2504C>T (n.165+2504C>T)
c.705C>T (p.Pro235=)
c.711C>T (p.Pro237=)
c.423C>T (p.Pro141=)
c.*2423C>T (n.*2423C>T)
3g.15644562T>ACA351606871BTDc.646T>A (p.Phe216Ile)
c.399+2505T>A (n.399+2505T>A)
c.165+2505T>A (n.165+2505T>A)
c.706T>A (p.Phe236Ile)
c.712T>A (p.Phe238Ile)
c.424T>A (p.Phe142Ile)
c.*2424T>A (n.*2424T>A)
3g.15644562T>CCA2277364BTDc.646T>C (p.Phe216Leu)
c.399+2505T>C (n.399+2505T>C)
c.165+2505T>C (n.165+2505T>C)
c.706T>C (p.Phe236Leu)
c.712T>C (p.Phe238Leu)
c.424T>C (p.Phe142Leu)
c.*2424T>C (n.*2424T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644562T>GCA351606875BTDc.646T>G (p.Phe216Val)
c.399+2505T>G (n.399+2505T>G)
c.165+2505T>G (n.165+2505T>G)
c.706T>G (p.Phe236Val)
c.712T>G (p.Phe238Val)
c.424T>G (p.Phe142Val)
c.*2424T>G (n.*2424T>G)
 gnomAD v4
3g.15644562T=CA1347664008BTDc.646T= (p.Phe216=)
c.399+2505T= (n.399+2505T=)
c.165+2505T= (n.165+2505T=)
c.706T= (p.Phe236=)
c.712T= (p.Phe238=)
c.424T= (p.Phe142=)
c.*2424T= (n.*2424T=)
3g.15644563T>ACA351606878BTDc.647T>A (p.Phe216Tyr)
c.399+2506T>A (n.399+2506T>A)
c.165+2506T>A (n.165+2506T>A)
c.707T>A (p.Phe236Tyr)
c.713T>A (p.Phe238Tyr)
c.425T>A (p.Phe142Tyr)
c.*2425T>A (n.*2425T>A)
3g.15644563T>CCA351606880BTDc.647T>C (p.Phe216Ser)
c.399+2506T>C (n.399+2506T>C)
c.165+2506T>C (n.165+2506T>C)
c.707T>C (p.Phe236Ser)
c.713T>C (p.Phe238Ser)
c.425T>C (p.Phe142Ser)
c.*2425T>C (n.*2425T>C)
3g.15644563T>GCA351606881BTDc.647T>G (p.Phe216Cys)
c.399+2506T>G (n.399+2506T>G)
c.165+2506T>G (n.165+2506T>G)
c.707T>G (p.Phe236Cys)
c.713T>G (p.Phe238Cys)
c.425T>G (p.Phe142Cys)
c.*2425T>G (n.*2425T>G)
3g.15644564T>ACA351606886BTDc.648T>A (p.Phe216Leu)
c.399+2507T>A (n.399+2507T>A)
c.165+2507T>A (n.165+2507T>A)
c.708T>A (p.Phe236Leu)
c.714T>A (p.Phe238Leu)
c.426T>A (p.Phe142Leu)
c.*2426T>A (n.*2426T>A)
3g.15644564T>CCA432819148BTDc.648T>C (p.Phe216=)
c.399+2507T>C (n.399+2507T>C)
c.165+2507T>C (n.165+2507T>C)
c.708T>C (p.Phe236=)
c.714T>C (p.Phe238=)
c.426T>C (p.Phe142=)
c.*2426T>C (n.*2426T>C)
3g.15644564T>GCA351606884BTDc.648T>G (p.Phe216Leu)
c.399+2507T>G (n.399+2507T>G)
c.165+2507T>G (n.165+2507T>G)
c.708T>G (p.Phe236Leu)
c.714T>G (p.Phe238Leu)
c.426T>G (p.Phe142Leu)
c.*2426T>G (n.*2426T>G)
3g.15644565G>ACA278250BTDc.649G>A (p.Ala217Thr)
c.399+2508G>A (n.399+2508G>A)
c.165+2508G>A (n.165+2508G>A)
c.709G>A (p.Ala237Thr)
c.715G>A (p.Ala239Thr)
c.427G>A (p.Ala143Thr)
c.*2427G>A (n.*2427G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644565G>CCA351606891BTDc.649G>C (p.Ala217Pro)
c.399+2508G>C (n.399+2508G>C)
c.165+2508G>C (n.165+2508G>C)
c.709G>C (p.Ala237Pro)
c.715G>C (p.Ala239Pro)
c.427G>C (p.Ala143Pro)
c.*2427G>C (n.*2427G>C)
3g.15644565G=CA1347664013BTDc.649G= (p.Ala217=)
c.399+2508G= (n.399+2508G=)
c.165+2508G= (n.165+2508G=)
c.709G= (p.Ala237=)
c.715G= (p.Ala239=)
c.427G= (p.Ala143=)
c.*2427G= (n.*2427G=)
3g.15644565G>TCA351606889BTDc.649G>T (p.Ala217Ser)
c.399+2508G>T (n.399+2508G>T)
c.165+2508G>T (n.165+2508G>T)
c.709G>T (p.Ala237Ser)
c.715G>T (p.Ala239Ser)
c.427G>T (p.Ala143Ser)
c.*2427G>T (n.*2427G>T)
3g.15644566C>ACA351606893BTDc.650C>A (p.Ala217Asp)
c.399+2509C>A (n.399+2509C>A)
c.165+2509C>A (n.165+2509C>A)
c.710C>A (p.Ala237Asp)
c.716C>A (p.Ala239Asp)
c.428C>A (p.Ala143Asp)
c.*2428C>A (n.*2428C>A)
 gnomAD v4
3g.15644566C>GCA351606897BTDc.650C>G (p.Ala217Gly)
c.399+2509C>G (n.399+2509C>G)
c.165+2509C>G (n.165+2509C>G)
c.710C>G (p.Ala237Gly)
c.716C>G (p.Ala239Gly)
c.428C>G (p.Ala143Gly)
c.*2428C>G (n.*2428C>G)
3g.15644566C>TCA351606895BTDc.650C>T (p.Ala217Val)
c.399+2509C>T (n.399+2509C>T)
c.165+2509C>T (n.165+2509C>T)
c.710C>T (p.Ala237Val)
c.716C>T (p.Ala239Val)
c.428C>T (p.Ala143Val)
c.*2428C>T (n.*2428C>T)
 COSMIC
3g.15644567T>ACA432819153BTDc.651T>A (p.Ala217=)
c.399+2510T>A (n.399+2510T>A)
c.165+2510T>A (n.165+2510T>A)
c.711T>A (p.Ala237=)
c.717T>A (p.Ala239=)
c.429T>A (p.Ala143=)
c.*2429T>A (n.*2429T>A)
3g.15644567T>CCA432819155BTDc.651T>C (p.Ala217=)
c.399+2510T>C (n.399+2510T>C)
c.165+2510T>C (n.165+2510T>C)
c.711T>C (p.Ala237=)
c.717T>C (p.Ala239=)
c.429T>C (p.Ala143=)
c.*2429T>C (n.*2429T>C)
3g.15644567T>GCA432819157BTDc.651T>G (p.Ala217=)
c.399+2510T>G (n.399+2510T>G)
c.165+2510T>G (n.165+2510T>G)
c.711T>G (p.Ala237=)
c.717T>G (p.Ala239=)
c.429T>G (p.Ala143=)
c.*2429T>G (n.*2429T>G)
3g.15644568G>ACA351606900BTDc.652G>A (p.Gly218Ser)
c.399+2511G>A (n.399+2511G>A)
c.165+2511G>A (n.165+2511G>A)
c.712G>A (p.Gly238Ser)
c.718G>A (p.Gly240Ser)
c.430G>A (p.Gly144Ser)
c.*2430G>A (n.*2430G>A)
3g.15644568G>CCA351606906BTDc.652G>C (p.Gly218Arg)
c.399+2511G>C (n.399+2511G>C)
c.165+2511G>C (n.165+2511G>C)
c.712G>C (p.Gly238Arg)
c.718G>C (p.Gly240Arg)
c.430G>C (p.Gly144Arg)
c.*2430G>C (n.*2430G>C)
3g.15644568G>TCA351606908BTDc.652G>T (p.Gly218Cys)
c.399+2511G>T (n.399+2511G>T)
c.165+2511G>T (n.165+2511G>T)
c.712G>T (p.Gly238Cys)
c.718G>T (p.Gly240Cys)
c.430G>T (p.Gly144Cys)
c.*2430G>T (n.*2430G>T)
3g.15644569G>ACA351606910BTDc.653G>A (p.Gly218Asp)
c.399+2512G>A (n.399+2512G>A)
c.165+2512G>A (n.165+2512G>A)
c.713G>A (p.Gly238Asp)
c.719G>A (p.Gly240Asp)
c.431G>A (p.Gly144Asp)
c.*2431G>A (n.*2431G>A)
3g.15644569G>CCA2277365BTDc.653G>C (p.Gly218Ala)
c.399+2512G>C (n.399+2512G>C)
c.165+2512G>C (n.165+2512G>C)
c.713G>C (p.Gly238Ala)
c.719G>C (p.Gly240Ala)
c.431G>C (p.Gly144Ala)
c.*2431G>C (n.*2431G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644569G=CA1347664021BTDc.653G= (p.Gly218=)
c.399+2512G= (n.399+2512G=)
c.165+2512G= (n.165+2512G=)
c.713G= (p.Gly238=)
c.719G= (p.Gly240=)
c.431G= (p.Gly144=)
c.*2431G= (n.*2431G=)
3g.15644569G>TCA351606913BTDc.653G>T (p.Gly218Val)
c.399+2512G>T (n.399+2512G>T)
c.165+2512G>T (n.165+2512G>T)
c.713G>T (p.Gly238Val)
c.719G>T (p.Gly240Val)
c.431G>T (p.Gly144Val)
c.*2431G>T (n.*2431G>T)
3g.15644570C>ACA432819164BTDc.654C>A (p.Gly218=)
c.399+2513C>A (n.399+2513C>A)
c.165+2513C>A (n.165+2513C>A)
c.714C>A (p.Gly238=)
c.720C>A (p.Gly240=)
c.432C>A (p.Gly144=)
c.*2432C>A (n.*2432C>A)
3g.15644570C>GCA432819166BTDc.654C>G (p.Gly218=)
c.399+2513C>G (n.399+2513C>G)
c.165+2513C>G (n.165+2513C>G)
c.714C>G (p.Gly238=)
c.720C>G (p.Gly240=)
c.432C>G (p.Gly144=)
c.*2432C>G (n.*2432C>G)
3g.15644570C>TCA432819165BTDc.654C>T (p.Gly218=)
c.399+2513C>T (n.399+2513C>T)
c.165+2513C>T (n.165+2513C>T)
c.714C>T (p.Gly238=)
c.720C>T (p.Gly240=)
c.432C>T (p.Gly144=)
c.*2432C>T (n.*2432C>T)
3g.15644571A>CCA432819170BTDc.655A>C (p.Arg219=)
c.399+2514A>C (n.399+2514A>C)
c.165+2514A>C (n.165+2514A>C)
c.715A>C (p.Arg239=)
c.721A>C (p.Arg241=)
c.433A>C (p.Arg145=)
c.*2433A>C (n.*2433A>C)
3g.15644571A>GCA351606915BTDc.655A>G (p.Arg219Gly)
c.399+2514A>G (n.399+2514A>G)
c.165+2514A>G (n.165+2514A>G)
c.715A>G (p.Arg239Gly)
c.721A>G (p.Arg241Gly)
c.433A>G (p.Arg145Gly)
c.*2433A>G (n.*2433A>G)
 gnomAD v4
3g.15644571A>TCA351606917BTDc.655A>T (p.Arg219Trp)
c.399+2514A>T (n.399+2514A>T)
c.165+2514A>T (n.165+2514A>T)
c.715A>T (p.Arg239Trp)
c.721A>T (p.Arg241Trp)
c.433A>T (p.Arg145Trp)
c.*2433A>T (n.*2433A>T)
3g.15644572G>ACA351606918BTDc.656G>A (p.Arg219Lys)
c.399+2515G>A (n.399+2515G>A)
c.165+2515G>A (n.165+2515G>A)
c.716G>A (p.Arg239Lys)
c.722G>A (p.Arg241Lys)
c.434G>A (p.Arg145Lys)
c.*2434G>A (n.*2434G>A)
3g.15644572G>CCA351606919BTDc.656G>C (p.Arg219Thr)
c.399+2515G>C (n.399+2515G>C)
c.165+2515G>C (n.165+2515G>C)
c.716G>C (p.Arg239Thr)
c.722G>C (p.Arg241Thr)
c.434G>C (p.Arg145Thr)
c.*2434G>C (n.*2434G>C)
3g.15644572G>TCA351606920BTDc.656G>T (p.Arg219Met)
c.399+2515G>T (n.399+2515G>T)
c.165+2515G>T (n.165+2515G>T)
c.716G>T (p.Arg239Met)
c.722G>T (p.Arg241Met)
c.434G>T (p.Arg145Met)
c.*2434G>T (n.*2434G>T)
3g.15644573G>ACA432819172BTDc.657G>A (p.Arg219=)
c.399+2516G>A (n.399+2516G>A)
c.165+2516G>A (n.165+2516G>A)
c.717G>A (p.Arg239=)
c.723G>A (p.Arg241=)
c.435G>A (p.Arg145=)
c.*2435G>A (n.*2435G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.15644573G>CCA351606922BTDc.657G>C (p.Arg219Ser)
c.399+2516G>C (n.399+2516G>C)
c.165+2516G>C (n.165+2516G>C)
c.717G>C (p.Arg239Ser)
c.723G>C (p.Arg241Ser)
c.435G>C (p.Arg145Ser)
c.*2435G>C (n.*2435G>C)
3g.15644573G=CA1347664025BTDc.657G= (p.Arg219=)
c.399+2516G= (n.399+2516G=)
c.165+2516G= (n.165+2516G=)
c.717G= (p.Arg239=)
c.723G= (p.Arg241=)
c.435G= (p.Arg145=)
c.*2435G= (n.*2435G=)
3g.15644573G>TCA351606921BTDc.657G>T (p.Arg219Ser)
c.399+2516G>T (n.399+2516G>T)
c.165+2516G>T (n.165+2516G>T)
c.717G>T (p.Arg239Ser)
c.723G>T (p.Arg241Ser)
c.435G>T (p.Arg145Ser)
c.*2435G>T (n.*2435G>T)
 gnomAD v4
3g.15644574T>ACA351606925BTDc.658T>A (p.Phe220Ile)
c.399+2517T>A (n.399+2517T>A)
c.165+2517T>A (n.165+2517T>A)
c.718T>A (p.Phe240Ile)
c.724T>A (p.Phe242Ile)
c.436T>A (p.Phe146Ile)
c.*2436T>A (n.*2436T>A)
3g.15644574T>CCA351606926BTDc.658T>C (p.Phe220Leu)
c.399+2517T>C (n.399+2517T>C)
c.165+2517T>C (n.165+2517T>C)
c.718T>C (p.Phe240Leu)
c.724T>C (p.Phe242Leu)
c.436T>C (p.Phe146Leu)
c.*2436T>C (n.*2436T>C)
3g.15644574T>GCA2277366BTDc.658T>G (p.Phe220Val)
c.399+2517T>G (n.399+2517T>G)
c.165+2517T>G (n.165+2517T>G)
c.718T>G (p.Phe240Val)
c.724T>G (p.Phe242Val)
c.436T>G (p.Phe146Val)
c.*2436T>G (n.*2436T>G)
 dbSNP ExAC gnomAD v2
3g.15644574T=CA1347664028BTDc.658T= (p.Phe220=)
c.399+2517T= (n.399+2517T=)
c.165+2517T= (n.165+2517T=)
c.718T= (p.Phe240=)
c.724T= (p.Phe242=)
c.436T= (p.Phe146=)
c.*2436T= (n.*2436T=)
3g.15644575T>ACA351606930BTDc.659T>A (p.Phe220Tyr)
c.399+2518T>A (n.399+2518T>A)
c.165+2518T>A (n.165+2518T>A)
c.719T>A (p.Phe240Tyr)
c.725T>A (p.Phe242Tyr)
c.437T>A (p.Phe146Tyr)
c.*2437T>A (n.*2437T>A)
3g.15644575T>CCA351606932BTDc.659T>C (p.Phe220Ser)
c.399+2518T>C (n.399+2518T>C)
c.165+2518T>C (n.165+2518T>C)
c.719T>C (p.Phe240Ser)
c.725T>C (p.Phe242Ser)
c.437T>C (p.Phe146Ser)
c.*2437T>C (n.*2437T>C)
 dbSNP
3g.15644575T>GCA351606934BTDc.659T>G (p.Phe220Cys)
c.399+2518T>G (n.399+2518T>G)
c.165+2518T>G (n.165+2518T>G)
c.719T>G (p.Phe240Cys)
c.725T>G (p.Phe242Cys)
c.437T>G (p.Phe146Cys)
c.*2437T>G (n.*2437T>G)
3g.15644575T=CA1347664032BTDc.659T= (p.Phe220=)
c.399+2518T= (n.399+2518T=)
c.165+2518T= (n.165+2518T=)
c.719T= (p.Phe240=)
c.725T= (p.Phe242=)
c.437T= (p.Phe146=)
c.*2437T= (n.*2437T=)
3g.15644576T>ACA351606936BTDc.660T>A (p.Phe220Leu)
c.399+2519T>A (n.399+2519T>A)
c.165+2519T>A (n.165+2519T>A)
c.720T>A (p.Phe240Leu)
c.726T>A (p.Phe242Leu)
c.438T>A (p.Phe146Leu)
c.*2438T>A (n.*2438T>A)
3g.15644576T>CCA432819181BTDc.660T>C (p.Phe220=)
c.399+2519T>C (n.399+2519T>C)
c.165+2519T>C (n.165+2519T>C)
c.720T>C (p.Phe240=)
c.726T>C (p.Phe242=)
c.438T>C (p.Phe146=)
c.*2438T>C (n.*2438T>C)
3g.15644576T>GCA351606938BTDc.660T>G (p.Phe220Leu)
c.399+2519T>G (n.399+2519T>G)
c.165+2519T>G (n.165+2519T>G)
c.720T>G (p.Phe240Leu)
c.726T>G (p.Phe242Leu)
c.438T>G (p.Phe146Leu)
c.*2438T>G (n.*2438T>G)
3g.15644577G>ACA351606940BTDc.661G>A (p.Gly221Ser)
c.399+2520G>A (n.399+2520G>A)
c.165+2520G>A (n.165+2520G>A)
c.721G>A (p.Gly241Ser)
c.727G>A (p.Gly243Ser)
c.439G>A (p.Gly147Ser)
c.*2439G>A (n.*2439G>A)
3g.15644577G>CCA351606942BTDc.661G>C (p.Gly221Arg)
c.399+2520G>C (n.399+2520G>C)
c.165+2520G>C (n.165+2520G>C)
c.721G>C (p.Gly241Arg)
c.727G>C (p.Gly243Arg)
c.439G>C (p.Gly147Arg)
c.*2439G>C (n.*2439G>C)
3g.15644577G>TCA351606944BTDc.661G>T (p.Gly221Cys)
c.399+2520G>T (n.399+2520G>T)
c.165+2520G>T (n.165+2520G>T)
c.721G>T (p.Gly241Cys)
c.727G>T (p.Gly243Cys)
c.439G>T (p.Gly147Cys)
c.*2439G>T (n.*2439G>T)
3g.15644578G>ACA351606950BTDc.662G>A (p.Gly221Asp)
c.399+2521G>A (n.399+2521G>A)
c.165+2521G>A (n.165+2521G>A)
c.722G>A (p.Gly241Asp)
c.728G>A (p.Gly243Asp)
c.440G>A (p.Gly147Asp)
c.*2440G>A (n.*2440G>A)
 ClinVar dbSNP
3g.15644578G>CCA351606948BTDc.662G>C (p.Gly221Ala)
c.399+2521G>C (n.399+2521G>C)
c.165+2521G>C (n.165+2521G>C)
c.722G>C (p.Gly241Ala)
c.728G>C (p.Gly243Ala)
c.440G>C (p.Gly147Ala)
c.*2440G>C (n.*2440G>C)
3g.15644578G=CA1347664033BTDc.662G= (p.Gly221=)
c.399+2521G= (n.399+2521G=)
c.165+2521G= (n.165+2521G=)
c.722G= (p.Gly241=)
c.728G= (p.Gly243=)
c.440G= (p.Gly147=)
c.*2440G= (n.*2440G=)
3g.15644578G>TCA351606946BTDc.662G>T (p.Gly221Val)
c.399+2521G>T (n.399+2521G>T)
c.165+2521G>T (n.165+2521G>T)
c.722G>T (p.Gly241Val)
c.728G>T (p.Gly243Val)
c.440G>T (p.Gly147Val)
c.*2440G>T (n.*2440G>T)
3g.15644579C>ACA432819192BTDc.663C>A (p.Gly221=)
c.399+2522C>A (n.399+2522C>A)
c.165+2522C>A (n.165+2522C>A)
c.723C>A (p.Gly241=)
c.729C>A (p.Gly243=)
c.441C>A (p.Gly147=)
c.*2441C>A (n.*2441C>A)
3g.15644579C>GCA432819190BTDc.663C>G (p.Gly221=)
c.399+2522C>G (n.399+2522C>G)
c.165+2522C>G (n.165+2522C>G)
c.723C>G (p.Gly241=)
c.729C>G (p.Gly243=)
c.441C>G (p.Gly147=)
c.*2441C>G (n.*2441C>G)
3g.15644579C>TCA432819187BTDc.663C>T (p.Gly221=)
c.399+2522C>T (n.399+2522C>T)
c.165+2522C>T (n.165+2522C>T)
c.723C>T (p.Gly241=)
c.729C>T (p.Gly243=)
c.441C>T (p.Gly147=)
c.*2441C>T (n.*2441C>T)
3g.15644580A=CA1347664035BTDc.664A= (p.Ile222=)
c.399+2523A= (n.399+2523A=)
c.165+2523A= (n.165+2523A=)
c.724A= (p.Ile242=)
c.730A= (p.Ile244=)
c.442A= (p.Ile148=)
c.*2442A= (n.*2442A=)
3g.15644580A>CCA351606951BTDc.664A>C (p.Ile222Leu)
c.399+2523A>C (n.399+2523A>C)
c.165+2523A>C (n.165+2523A>C)
c.724A>C (p.Ile242Leu)
c.730A>C (p.Ile244Leu)
c.442A>C (p.Ile148Leu)
c.*2442A>C (n.*2442A>C)
3g.15644580A>GCA2277367BTDc.664A>G (p.Ile222Val)
c.399+2523A>G (n.399+2523A>G)
c.165+2523A>G (n.165+2523A>G)
c.724A>G (p.Ile242Val)
c.730A>G (p.Ile244Val)
c.442A>G (p.Ile148Val)
c.*2442A>G (n.*2442A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644580A>TCA351606954BTDc.664A>T (p.Ile222Phe)
c.399+2523A>T (n.399+2523A>T)
c.165+2523A>T (n.165+2523A>T)
c.724A>T (p.Ile242Phe)
c.730A>T (p.Ile244Phe)
c.442A>T (p.Ile148Phe)
c.*2442A>T (n.*2442A>T)
3g.15644581T>ACA351606955BTDc.665T>A (p.Ile222Asn)
c.399+2524T>A (n.399+2524T>A)
c.165+2524T>A (n.165+2524T>A)
c.725T>A (p.Ile242Asn)
c.731T>A (p.Ile244Asn)
c.443T>A (p.Ile148Asn)
c.*2443T>A (n.*2443T>A)
3g.15644581T>CCA351606957BTDc.665T>C (p.Ile222Thr)
c.399+2524T>C (n.399+2524T>C)
c.165+2524T>C (n.165+2524T>C)
c.725T>C (p.Ile242Thr)
c.731T>C (p.Ile244Thr)
c.443T>C (p.Ile148Thr)
c.*2443T>C (n.*2443T>C)
 gnomAD v4
3g.15644581T>GCA351606959BTDc.665T>G (p.Ile222Ser)
c.399+2524T>G (n.399+2524T>G)
c.165+2524T>G (n.165+2524T>G)
c.725T>G (p.Ile242Ser)
c.731T>G (p.Ile244Ser)
c.443T>G (p.Ile148Ser)
c.*2443T>G (n.*2443T>G)
3g.15644582C>ACA432819197BTDc.666C>A (p.Ile222=)
c.399+2525C>A (n.399+2525C>A)
c.165+2525C>A (n.165+2525C>A)
c.726C>A (p.Ile242=)
c.732C>A (p.Ile244=)
c.444C>A (p.Ile148=)
c.*2444C>A (n.*2444C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.15644582C=CA1347664036BTDc.666C= (p.Ile222=)
c.399+2525C= (n.399+2525C=)
c.165+2525C= (n.165+2525C=)
c.726C= (p.Ile242=)
c.732C= (p.Ile244=)
c.444C= (p.Ile148=)
c.*2444C= (n.*2444C=)
3g.15644582C>GCA351606961BTDc.666C>G (p.Ile222Met)
c.399+2525C>G (n.399+2525C>G)
c.165+2525C>G (n.165+2525C>G)
c.726C>G (p.Ile242Met)
c.732C>G (p.Ile244Met)
c.444C>G (p.Ile148Met)
c.*2444C>G (n.*2444C>G)
3g.15644582C>TCA432819198BTDc.666C>T (p.Ile222=)
c.399+2525C>T (n.399+2525C>T)
c.165+2525C>T (n.165+2525C>T)
c.726C>T (p.Ile242=)
c.732C>T (p.Ile244=)
c.444C>T (p.Ile148=)
c.*2444C>T (n.*2444C>T)
3g.15644583T>ACA351606964BTDc.667T>A (p.Phe223Ile)
c.399+2526T>A (n.399+2526T>A)
c.165+2526T>A (n.165+2526T>A)
c.727T>A (p.Phe243Ile)
c.733T>A (p.Phe245Ile)
c.445T>A (p.Phe149Ile)
c.*2445T>A (n.*2445T>A)
3g.15644583T>CCA351606965BTDc.667T>C (p.Phe223Leu)
c.399+2526T>C (n.399+2526T>C)
c.165+2526T>C (n.165+2526T>C)
c.727T>C (p.Phe243Leu)
c.733T>C (p.Phe245Leu)
c.445T>C (p.Phe149Leu)
c.*2445T>C (n.*2445T>C)
3g.15644583T>GCA351606966BTDc.667T>G (p.Phe223Val)
c.399+2526T>G (n.399+2526T>G)
c.165+2526T>G (n.165+2526T>G)
c.727T>G (p.Phe243Val)
c.733T>G (p.Phe245Val)
c.445T>G (p.Phe149Val)
c.*2445T>G (n.*2445T>G)
3g.15644584T>ACA351606967BTDc.668T>A (p.Phe223Tyr)
c.399+2527T>A (n.399+2527T>A)
c.165+2527T>A (n.165+2527T>A)
c.728T>A (p.Phe243Tyr)
c.734T>A (p.Phe245Tyr)
c.446T>A (p.Phe149Tyr)
c.*2446T>A (n.*2446T>A)
3g.15644584T>CCA351606968BTDc.668T>C (p.Phe223Ser)
c.399+2527T>C (n.399+2527T>C)
c.165+2527T>C (n.165+2527T>C)
c.728T>C (p.Phe243Ser)
c.734T>C (p.Phe245Ser)
c.446T>C (p.Phe149Ser)
c.*2446T>C (n.*2446T>C)
3g.15644584T>GCA351606970BTDc.668T>G (p.Phe223Cys)
c.399+2527T>G (n.399+2527T>G)
c.165+2527T>G (n.165+2527T>G)
c.728T>G (p.Phe243Cys)
c.734T>G (p.Phe245Cys)
c.446T>G (p.Phe149Cys)
c.*2446T>G (n.*2446T>G)
3g.15644585C>ACA351606971BTDc.669C>A (p.Phe223Leu)
c.399+2528C>A (n.399+2528C>A)
c.165+2528C>A (n.165+2528C>A)
c.729C>A (p.Phe243Leu)
c.735C>A (p.Phe245Leu)
c.447C>A (p.Phe149Leu)
c.*2447C>A (n.*2447C>A)
3g.15644585C=CA1347664039BTDc.669C= (p.Phe223=)
c.399+2528C= (n.399+2528C=)
c.165+2528C= (n.165+2528C=)
c.729C= (p.Phe243=)
c.735C= (p.Phe245=)
c.447C= (p.Phe149=)
c.*2447C= (n.*2447C=)
3g.15644585C>GCA351606973BTDc.669C>G (p.Phe223Leu)
c.399+2528C>G (n.399+2528C>G)
c.165+2528C>G (n.165+2528C>G)
c.729C>G (p.Phe243Leu)
c.735C>G (p.Phe245Leu)
c.447C>G (p.Phe149Leu)
c.*2447C>G (n.*2447C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.15644585C>TCA2277368BTDc.669C>T (p.Phe223=)
c.399+2528C>T (n.399+2528C>T)
c.165+2528C>T (n.165+2528C>T)
c.729C>T (p.Phe243=)
c.735C>T (p.Phe245=)
c.447C>T (p.Phe149=)
c.*2447C>T (n.*2447C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644586A>CCA351606979BTDc.670A>C (p.Thr224Pro)
c.399+2529A>C (n.399+2529A>C)
c.165+2529A>C (n.165+2529A>C)
c.730A>C (p.Thr244Pro)
c.736A>C (p.Thr246Pro)
c.448A>C (p.Thr150Pro)
c.*2448A>C (n.*2448A>C)
3g.15644586A>GCA351606981BTDc.670A>G (p.Thr224Ala)
c.399+2529A>G (n.399+2529A>G)
c.165+2529A>G (n.165+2529A>G)
c.730A>G (p.Thr244Ala)
c.736A>G (p.Thr246Ala)
c.448A>G (p.Thr150Ala)
c.*2448A>G (n.*2448A>G)
3g.15644586A>TCA351606983BTDc.670A>T (p.Thr224Ser)
c.399+2529A>T (n.399+2529A>T)
c.165+2529A>T (n.165+2529A>T)
c.730A>T (p.Thr244Ser)
c.736A>T (p.Thr246Ser)
c.448A>T (p.Thr150Ser)
c.*2448A>T (n.*2448A>T)
3g.15644587C>ACA351606985BTDc.671C>A (p.Thr224Lys)
c.399+2530C>A (n.399+2530C>A)
c.165+2530C>A (n.165+2530C>A)
c.731C>A (p.Thr244Lys)
c.737C>A (p.Thr246Lys)
c.449C>A (p.Thr150Lys)
c.*2449C>A (n.*2449C>A)
3g.15644587C>GCA351606987BTDc.671C>G (p.Thr224Arg)
c.399+2530C>G (n.399+2530C>G)
c.165+2530C>G (n.165+2530C>G)
c.731C>G (p.Thr244Arg)
c.737C>G (p.Thr246Arg)
c.449C>G (p.Thr150Arg)
c.*2449C>G (n.*2449C>G)
3g.15644587C>TCA351606988BTDc.671C>T (p.Thr224Ile)
c.399+2530C>T (n.399+2530C>T)
c.165+2530C>T (n.165+2530C>T)
c.731C>T (p.Thr244Ile)
c.737C>T (p.Thr246Ile)
c.449C>T (p.Thr150Ile)
c.*2449C>T (n.*2449C>T)
 ClinVar
3g.15644588A=CA1347664042BTDc.672A= (p.Thr224=)
c.399+2531A= (n.399+2531A=)
c.165+2531A= (n.165+2531A=)
c.732A= (p.Thr244=)
c.738A= (p.Thr246=)
c.450A= (p.Thr150=)
c.*2450A= (n.*2450A=)
3g.15644588A>CCA432819212BTDc.672A>C (p.Thr224=)
c.399+2531A>C (n.399+2531A>C)
c.165+2531A>C (n.165+2531A>C)
c.732A>C (p.Thr244=)
c.738A>C (p.Thr246=)
c.450A>C (p.Thr150=)
c.*2450A>C (n.*2450A>C)
3g.15644588A>GCA70622007BTDc.672A>G (p.Thr224=)
c.399+2531A>G (n.399+2531A>G)
c.165+2531A>G (n.165+2531A>G)
c.732A>G (p.Thr244=)
c.738A>G (p.Thr246=)
c.450A>G (p.Thr150=)
c.*2450A>G (n.*2450A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644588A>TCA70622009BTDc.672A>T (p.Thr224=)
c.399+2531A>T (n.399+2531A>T)
c.165+2531A>T (n.165+2531A>T)
c.732A>T (p.Thr244=)
c.738A>T (p.Thr246=)
c.450A>T (p.Thr150=)
c.*2450A>T (n.*2450A>T)
 dbSNP
3g.15644589T>ACA351606992BTDc.673T>A (p.Cys225Ser)
c.399+2532T>A (n.399+2532T>A)
c.165+2532T>A (n.165+2532T>A)
c.733T>A (p.Cys245Ser)
c.739T>A (p.Cys247Ser)
c.451T>A (p.Cys151Ser)
c.*2451T>A (n.*2451T>A)
3g.15644589T>CCA351606994BTDc.673T>C (p.Cys225Arg)
c.399+2532T>C (n.399+2532T>C)
c.165+2532T>C (n.165+2532T>C)
c.733T>C (p.Cys245Arg)
c.739T>C (p.Cys247Arg)
c.451T>C (p.Cys151Arg)
c.*2451T>C (n.*2451T>C)
3g.15644589T>GCA351606996BTDc.673T>G (p.Cys225Gly)
c.399+2532T>G (n.399+2532T>G)
c.165+2532T>G (n.165+2532T>G)
c.733T>G (p.Cys245Gly)
c.739T>G (p.Cys247Gly)
c.451T>G (p.Cys151Gly)
c.*2451T>G (n.*2451T>G)
3g.15644590G>ACA278252BTDc.674G>A (p.Cys225Tyr)
c.399+2533G>A (n.399+2533G>A)
c.165+2533G>A (n.165+2533G>A)
c.734G>A (p.Cys245Tyr)
c.740G>A (p.Cys247Tyr)
c.452G>A (p.Cys151Tyr)
c.*2452G>A (n.*2452G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644590G>CCA351607000BTDc.674G>C (p.Cys225Ser)
c.399+2533G>C (n.399+2533G>C)
c.165+2533G>C (n.165+2533G>C)
c.734G>C (p.Cys245Ser)
c.740G>C (p.Cys247Ser)
c.452G>C (p.Cys151Ser)
c.*2452G>C (n.*2452G>C)
3g.15644590G=CA1347664049BTDc.674G= (p.Cys225=)
c.399+2533G= (n.399+2533G=)
c.165+2533G= (n.165+2533G=)
c.734G= (p.Cys245=)
c.740G= (p.Cys247=)
c.452G= (p.Cys151=)
c.*2452G= (n.*2452G=)
3g.15644590G>TCA351606998BTDc.674G>T (p.Cys225Phe)
c.399+2533G>T (n.399+2533G>T)
c.165+2533G>T (n.165+2533G>T)
c.734G>T (p.Cys245Phe)
c.740G>T (p.Cys247Phe)
c.452G>T (p.Cys151Phe)
c.*2452G>T (n.*2452G>T)
3g.15644591C>ACA351607003BTDc.675C>A (p.Cys225Ter)
c.399+2534C>A (n.399+2534C>A)
c.165+2534C>A (n.165+2534C>A)
c.735C>A (p.Cys245Ter)
c.741C>A (p.Cys247Ter)
c.453C>A (p.Cys151Ter)
c.*2453C>A (n.*2453C>A)
 ClinVar
3g.15644591C=CA1347664051BTDc.675C= (p.Cys225=)
c.399+2534C= (n.399+2534C=)
c.165+2534C= (n.165+2534C=)
c.735C= (p.Cys245=)
c.741C= (p.Cys247=)
c.453C= (p.Cys151=)
c.*2453C= (n.*2453C=)
3g.15644591C>GCA2277369BTDc.675C>G (p.Cys225Trp)
c.399+2534C>G (n.399+2534C>G)
c.165+2534C>G (n.165+2534C>G)
c.735C>G (p.Cys245Trp)
c.741C>G (p.Cys247Trp)
c.453C>G (p.Cys151Trp)
c.*2453C>G (n.*2453C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644591C>TCA432819224BTDc.675C>T (p.Cys225=)
c.399+2534C>T (n.399+2534C>T)
c.165+2534C>T (n.165+2534C>T)
c.735C>T (p.Cys245=)
c.741C>T (p.Cys247=)
c.453C>T (p.Cys151=)
c.*2453C>T (n.*2453C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.15644592T>ACA351607005BTDc.676T>A (p.Phe226Ile)
c.399+2535T>A (n.399+2535T>A)
c.165+2535T>A (n.165+2535T>A)
c.736T>A (p.Phe246Ile)
c.742T>A (p.Phe248Ile)
c.454T>A (p.Phe152Ile)
c.*2454T>A (n.*2454T>A)
3g.15644592T>CCA351607007BTDc.676T>C (p.Phe226Leu)
c.399+2535T>C (n.399+2535T>C)
c.165+2535T>C (n.165+2535T>C)
c.736T>C (p.Phe246Leu)
c.742T>C (p.Phe248Leu)
c.454T>C (p.Phe152Leu)
c.*2454T>C (n.*2454T>C)
3g.15644592T>GCA351607009BTDc.676T>G (p.Phe226Val)
c.399+2535T>G (n.399+2535T>G)
c.165+2535T>G (n.165+2535T>G)
c.736T>G (p.Phe246Val)
c.742T>G (p.Phe248Val)
c.454T>G (p.Phe152Val)
c.*2454T>G (n.*2454T>G)
3g.15644593T>ACA351607011BTDc.677T>A (p.Phe226Tyr)
c.399+2536T>A (n.399+2536T>A)
c.165+2536T>A (n.165+2536T>A)
c.737T>A (p.Phe246Tyr)
c.743T>A (p.Phe248Tyr)
c.455T>A (p.Phe152Tyr)
c.*2455T>A (n.*2455T>A)
3g.15644593T>CCA351607013BTDc.677T>C (p.Phe226Ser)
c.399+2536T>C (n.399+2536T>C)
c.165+2536T>C (n.165+2536T>C)
c.737T>C (p.Phe246Ser)
c.743T>C (p.Phe248Ser)
c.455T>C (p.Phe152Ser)
c.*2455T>C (n.*2455T>C)
3g.15644593T>GCA351607015BTDc.677T>G (p.Phe226Cys)
c.399+2536T>G (n.399+2536T>G)
c.165+2536T>G (n.165+2536T>G)
c.737T>G (p.Phe246Cys)
c.743T>G (p.Phe248Cys)
c.455T>G (p.Phe152Cys)
c.*2455T>G (n.*2455T>G)
3g.15644594T>ACA351607017BTDc.678T>A (p.Phe226Leu)
c.399+2537T>A (n.399+2537T>A)
c.165+2537T>A (n.165+2537T>A)
c.738T>A (p.Phe246Leu)
c.744T>A (p.Phe248Leu)
c.456T>A (p.Phe152Leu)
c.*2456T>A (n.*2456T>A)
3g.15644594T>CCA2277370BTDc.678T>C (p.Phe226=)
c.399+2537T>C (n.399+2537T>C)
c.165+2537T>C (n.165+2537T>C)
c.738T>C (p.Phe246=)
c.744T>C (p.Phe248=)
c.456T>C (p.Phe152=)
c.*2456T>C (n.*2456T>C)
 dbSNP ExAC gnomAD v2
3g.15644594T>GCA351607019BTDc.678T>G (p.Phe226Leu)
c.399+2537T>G (n.399+2537T>G)
c.165+2537T>G (n.165+2537T>G)
c.738T>G (p.Phe246Leu)
c.744T>G (p.Phe248Leu)
c.456T>G (p.Phe152Leu)
c.*2456T>G (n.*2456T>G)
3g.15644594T=CA1347664053BTDc.678T= (p.Phe226=)
c.399+2537T= (n.399+2537T=)
c.165+2537T= (n.165+2537T=)
c.738T= (p.Phe246=)
c.744T= (p.Phe248=)
c.456T= (p.Phe152=)
c.*2456T= (n.*2456T=)
3g.15644595G>ACA351607022BTDc.679G>A (p.Asp227Asn)
c.399+2538G>A (n.399+2538G>A)
c.165+2538G>A (n.165+2538G>A)
c.739G>A (p.Asp247Asn)
c.745G>A (p.Asp249Asn)
c.457G>A (p.Asp153Asn)
c.*2457G>A (n.*2457G>A)
3g.15644595G>CCA351607024BTDc.679G>C (p.Asp227His)
c.399+2538G>C (n.399+2538G>C)
c.165+2538G>C (n.165+2538G>C)
c.739G>C (p.Asp247His)
c.745G>C (p.Asp249His)
c.457G>C (p.Asp153His)
c.*2457G>C (n.*2457G>C)
3g.15644595G>TCA351607026BTDc.679G>T (p.Asp227Tyr)
c.399+2538G>T (n.399+2538G>T)
c.165+2538G>T (n.165+2538G>T)
c.739G>T (p.Asp247Tyr)
c.745G>T (p.Asp249Tyr)
c.457G>T (p.Asp153Tyr)
c.*2457G>T (n.*2457G>T)
3g.15644596A>CCA351607029BTDc.680A>C (p.Asp227Ala)
c.399+2539A>C (n.399+2539A>C)
c.165+2539A>C (n.165+2539A>C)
c.740A>C (p.Asp247Ala)
c.746A>C (p.Asp249Ala)
c.458A>C (p.Asp153Ala)
c.*2458A>C (n.*2458A>C)
3g.15644596A>GCA351607033BTDc.680A>G (p.Asp227Gly)
c.399+2539A>G (n.399+2539A>G)
c.165+2539A>G (n.165+2539A>G)
c.740A>G (p.Asp247Gly)
c.746A>G (p.Asp249Gly)
c.458A>G (p.Asp153Gly)
c.*2458A>G (n.*2458A>G)
3g.15644596A>TCA351607031BTDc.680A>T (p.Asp227Val)
c.399+2539A>T (n.399+2539A>T)
c.165+2539A>T (n.165+2539A>T)
c.740A>T (p.Asp247Val)
c.746A>T (p.Asp249Val)
c.458A>T (p.Asp153Val)
c.*2458A>T (n.*2458A>T)
3g.15644597T>ACA351607035BTDc.681T>A (p.Asp227Glu)
c.399+2540T>A (n.399+2540T>A)
c.165+2540T>A (n.165+2540T>A)
c.741T>A (p.Asp247Glu)
c.747T>A (p.Asp249Glu)
c.459T>A (p.Asp153Glu)
c.*2459T>A (n.*2459T>A)
3g.15644597T>CCA432819241BTDc.681T>C (p.Asp227=)
c.399+2540T>C (n.399+2540T>C)
c.165+2540T>C (n.165+2540T>C)
c.741T>C (p.Asp247=)
c.747T>C (p.Asp249=)
c.459T>C (p.Asp153=)
c.*2459T>C (n.*2459T>C)
3g.15644597T>GCA351607037BTDc.681T>G (p.Asp227Glu)
c.399+2540T>G (n.399+2540T>G)
c.165+2540T>G (n.165+2540T>G)
c.741T>G (p.Asp247Glu)
c.747T>G (p.Asp249Glu)
c.459T>G (p.Asp153Glu)
c.*2459T>G (n.*2459T>G)
3g.15644598A=CA1347664058BTDc.682A= (p.Ile228=)
c.399+2541A= (n.399+2541A=)
c.165+2541A= (n.165+2541A=)
c.742A= (p.Ile248=)
c.748A= (p.Ile250=)
c.460A= (p.Ile154=)
c.*2460A= (n.*2460A=)
3g.15644598A>CCA351607039BTDc.682A>C (p.Ile228Leu)
c.399+2541A>C (n.399+2541A>C)
c.165+2541A>C (n.165+2541A>C)
c.742A>C (p.Ile248Leu)
c.748A>C (p.Ile250Leu)
c.460A>C (p.Ile154Leu)
c.*2460A>C (n.*2460A>C)
 ClinVar dbSNP
3g.15644598A>GCA220333BTDc.682A>G (p.Ile228Val)
c.399+2541A>G (n.399+2541A>G)
c.165+2541A>G (n.165+2541A>G)
c.742A>G (p.Ile248Val)
c.748A>G (p.Ile250Val)
c.460A>G (p.Ile154Val)
c.*2460A>G (n.*2460A>G)
 ClinVar dbSNP gnomAD v4
3g.15644598A>TCA351607042BTDc.682A>T (p.Ile228Leu)
c.399+2541A>T (n.399+2541A>T)
c.165+2541A>T (n.165+2541A>T)
c.742A>T (p.Ile248Leu)
c.748A>T (p.Ile250Leu)
c.460A>T (p.Ile154Leu)
c.*2460A>T (n.*2460A>T)
3g.15644599T>ACA351607043BTDc.683T>A (p.Ile228Lys)
c.399+2542T>A (n.399+2542T>A)
c.165+2542T>A (n.165+2542T>A)
c.743T>A (p.Ile248Lys)
c.749T>A (p.Ile250Lys)
c.461T>A (p.Ile154Lys)
c.*2461T>A (n.*2461T>A)
3g.15644599T>CCA278254BTDc.683T>C (p.Ile228Thr)
c.399+2542T>C (n.399+2542T>C)
c.165+2542T>C (n.165+2542T>C)
c.743T>C (p.Ile248Thr)
c.749T>C (p.Ile250Thr)
c.461T>C (p.Ile154Thr)
c.*2461T>C (n.*2461T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644599T>GCA351607046BTDc.683T>G (p.Ile228Arg)
c.399+2542T>G (n.399+2542T>G)
c.165+2542T>G (n.165+2542T>G)
c.743T>G (p.Ile248Arg)
c.749T>G (p.Ile250Arg)
c.461T>G (p.Ile154Arg)
c.*2461T>G (n.*2461T>G)
3g.15644599T=CA1347664066BTDc.683T= (p.Ile228=)
c.399+2542T= (n.399+2542T=)
c.165+2542T= (n.165+2542T=)
c.743T= (p.Ile248=)
c.749T= (p.Ile250=)
c.461T= (p.Ile154=)
c.*2461T= (n.*2461T=)
3g.15644600_15644604delCA2664667150BTDc.684_688del (p.Phe230Ter)
c.399+2543_399+2547del (n.399+2543_399+2547del)
c.165+2543_165+2547del (n.165+2543_165+2547del)
c.744_748del (p.Phe250Ter)
c.750_754del (p.Phe252Ter)
c.462_466del (p.Phe156Ter)
c.*2462_*2466del (n.*2462_*2466del)
 gnomAD v4
3g.15644600A=CA1347664070BTDc.684A= (p.Ile228=)
c.399+2543A= (n.399+2543A=)
c.165+2543A= (n.165+2543A=)
c.744A= (p.Ile248=)
c.750A= (p.Ile250=)
c.462A= (p.Ile154=)
c.*2462A= (n.*2462A=)
3g.15644600A>CCA432819252BTDc.684A>C (p.Ile228=)
c.399+2543A>C (n.399+2543A>C)
c.165+2543A>C (n.165+2543A>C)
c.744A>C (p.Ile248=)
c.750A>C (p.Ile250=)
c.462A>C (p.Ile154=)
c.*2462A>C (n.*2462A>C)
3g.15644600A>GCA351607048BTDc.684A>G (p.Ile228Met)
c.399+2543A>G (n.399+2543A>G)
c.165+2543A>G (n.165+2543A>G)
c.744A>G (p.Ile248Met)
c.750A>G (p.Ile250Met)
c.462A>G (p.Ile154Met)
c.*2462A>G (n.*2462A>G)
 ClinVar dbSNP
3g.15644600A>TCA432819253BTDc.684A>T (p.Ile228=)
c.399+2543A>T (n.399+2543A>T)
c.165+2543A>T (n.165+2543A>T)
c.744A>T (p.Ile248=)
c.750A>T (p.Ile250=)
c.462A>T (p.Ile154=)
c.*2462A>T (n.*2462A>T)
3g.15644601T>ACA351607050BTDc.685T>A (p.Leu229Met)
c.399+2544T>A (n.399+2544T>A)
c.165+2544T>A (n.165+2544T>A)
c.745T>A (p.Leu249Met)
c.751T>A (p.Leu251Met)
c.463T>A (p.Leu155Met)
c.*2463T>A (n.*2463T>A)
3g.15644601T>CCA432819255BTDc.685T>C (p.Leu229=)
c.399+2544T>C (n.399+2544T>C)
c.165+2544T>C (n.165+2544T>C)
c.745T>C (p.Leu249=)
c.751T>C (p.Leu251=)
c.463T>C (p.Leu155=)
c.*2463T>C (n.*2463T>C)
3g.15644601T>GCA351607052BTDc.685T>G (p.Leu229Val)
c.399+2544T>G (n.399+2544T>G)
c.165+2544T>G (n.165+2544T>G)
c.745T>G (p.Leu249Val)
c.751T>G (p.Leu251Val)
c.463T>G (p.Leu155Val)
c.*2463T>G (n.*2463T>G)
3g.15644602delCA2580068522BTDc.686del (p.Leu229CysfsTer15)
c.399+2545del (n.399+2545del)
c.165+2545del (n.165+2545del)
c.746del (p.Leu249CysfsTer15)
c.752del (p.Leu251CysfsTer15)
c.464del (p.Leu155CysfsTer15)
c.*2464del (n.*2464del)
 ClinVar
3g.15644602T>ACA351607057BTDc.686T>A (p.Leu229Ter)
c.399+2545T>A (n.399+2545T>A)
c.165+2545T>A (n.165+2545T>A)
c.746T>A (p.Leu249Ter)
c.752T>A (p.Leu251Ter)
c.464T>A (p.Leu155Ter)
c.*2464T>A (n.*2464T>A)
3g.15644602T>CCA351607059BTDc.686T>C (p.Leu229Ser)
c.399+2545T>C (n.399+2545T>C)
c.165+2545T>C (n.165+2545T>C)
c.746T>C (p.Leu249Ser)
c.752T>C (p.Leu251Ser)
c.464T>C (p.Leu155Ser)
c.*2464T>C (n.*2464T>C)
 dbSNP
3g.15644602T>GCA351607055BTDc.686T>G (p.Leu229Trp)
c.399+2545T>G (n.399+2545T>G)
c.165+2545T>G (n.165+2545T>G)
c.746T>G (p.Leu249Trp)
c.752T>G (p.Leu251Trp)
c.464T>G (p.Leu155Trp)
c.*2464T>G (n.*2464T>G)
3g.15644602T=CA1347664073BTDc.686T= (p.Leu229=)
c.399+2545T= (n.399+2545T=)
c.165+2545T= (n.165+2545T=)
c.746T= (p.Leu249=)
c.752T= (p.Leu251=)
c.464T= (p.Leu155=)
c.*2464T= (n.*2464T=)
3g.15644603G>ACA432819257BTDc.687G>A (p.Leu229=)
c.399+2546G>A (n.399+2546G>A)
c.165+2546G>A (n.165+2546G>A)
c.747G>A (p.Leu249=)
c.753G>A (p.Leu251=)
c.465G>A (p.Leu155=)
c.*2465G>A (n.*2465G>A)
 ClinVar dbSNP gnomAD v4
3g.15644603G>CCA351607061BTDc.687G>C (p.Leu229Phe)
c.399+2546G>C (n.399+2546G>C)
c.165+2546G>C (n.165+2546G>C)
c.747G>C (p.Leu249Phe)
c.753G>C (p.Leu251Phe)
c.465G>C (p.Leu155Phe)
c.*2465G>C (n.*2465G>C)
3g.15644603G>TCA351607063BTDc.687G>T (p.Leu229Phe)
c.399+2546G>T (n.399+2546G>T)
c.165+2546G>T (n.165+2546G>T)
c.747G>T (p.Leu249Phe)
c.753G>T (p.Leu251Phe)
c.465G>T (p.Leu155Phe)
c.*2465G>T (n.*2465G>T)
3g.15644604T>ACA351607066BTDc.688T>A (p.Phe230Ile)
c.399+2547T>A (n.399+2547T>A)
c.165+2547T>A (n.165+2547T>A)
c.748T>A (p.Phe250Ile)
c.754T>A (p.Phe252Ile)
c.466T>A (p.Phe156Ile)
c.*2466T>A (n.*2466T>A)
3g.15644604T>CCA351607067BTDc.688T>C (p.Phe230Leu)
c.399+2547T>C (n.399+2547T>C)
c.165+2547T>C (n.165+2547T>C)
c.748T>C (p.Phe250Leu)
c.754T>C (p.Phe252Leu)
c.466T>C (p.Phe156Leu)
c.*2466T>C (n.*2466T>C)
3g.15644604T>GCA351607069BTDc.688T>G (p.Phe230Val)
c.399+2547T>G (n.399+2547T>G)
c.165+2547T>G (n.165+2547T>G)
c.748T>G (p.Phe250Val)
c.754T>G (p.Phe252Val)
c.466T>G (p.Phe156Val)
c.*2466T>G (n.*2466T>G)
3g.15644605T>ACA2277371BTDc.689T>A (p.Phe230Tyr)
c.399+2548T>A (n.399+2548T>A)
c.165+2548T>A (n.165+2548T>A)
c.749T>A (p.Phe250Tyr)
c.755T>A (p.Phe252Tyr)
c.467T>A (p.Phe156Tyr)
c.*2467T>A (n.*2467T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644605T>CCA351607072BTDc.689T>C (p.Phe230Ser)
c.399+2548T>C (n.399+2548T>C)
c.165+2548T>C (n.165+2548T>C)
c.749T>C (p.Phe250Ser)
c.755T>C (p.Phe252Ser)
c.467T>C (p.Phe156Ser)
c.*2467T>C (n.*2467T>C)
3g.15644605T>GCA351607074BTDc.689T>G (p.Phe230Cys)
c.399+2548T>G (n.399+2548T>G)
c.165+2548T>G (n.165+2548T>G)
c.749T>G (p.Phe250Cys)
c.755T>G (p.Phe252Cys)
c.467T>G (p.Phe156Cys)
c.*2467T>G (n.*2467T>G)
3g.15644605T=CA1347664078BTDc.689T= (p.Phe230=)
c.399+2548T= (n.399+2548T=)
c.165+2548T= (n.165+2548T=)
c.749T= (p.Phe250=)
c.755T= (p.Phe252=)
c.467T= (p.Phe156=)
c.*2467T= (n.*2467T=)
3g.15644606C>ACA351607076BTDc.690C>A (p.Phe230Leu)
c.399+2549C>A (n.399+2549C>A)
c.165+2549C>A (n.165+2549C>A)
c.750C>A (p.Phe250Leu)
c.756C>A (p.Phe252Leu)
c.468C>A (p.Phe156Leu)
c.*2468C>A (n.*2468C>A)
3g.15644606C>GCA351607078BTDc.690C>G (p.Phe230Leu)
c.399+2549C>G (n.399+2549C>G)
c.165+2549C>G (n.165+2549C>G)
c.750C>G (p.Phe250Leu)
c.756C>G (p.Phe252Leu)
c.468C>G (p.Phe156Leu)
c.*2468C>G (n.*2468C>G)
3g.15644606C>TCA432819271BTDc.690C>T (p.Phe230=)
c.399+2549C>T (n.399+2549C>T)
c.165+2549C>T (n.165+2549C>T)
c.750C>T (p.Phe250=)
c.756C>T (p.Phe252=)
c.468C>T (p.Phe156=)
c.*2468C>T (n.*2468C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.15644607T>ACA351607080BTDc.691T>A (p.Phe231Ile)
c.399+2550T>A (n.399+2550T>A)
c.165+2550T>A (n.165+2550T>A)
c.751T>A (p.Phe251Ile)
c.757T>A (p.Phe253Ile)
c.469T>A (p.Phe157Ile)
c.*2469T>A (n.*2469T>A)
3g.15644607T>CCA351607083BTDc.691T>C (p.Phe231Leu)
c.399+2550T>C (n.399+2550T>C)
c.165+2550T>C (n.165+2550T>C)
c.751T>C (p.Phe251Leu)
c.757T>C (p.Phe253Leu)
c.469T>C (p.Phe157Leu)
c.*2469T>C (n.*2469T>C)
3g.15644607T>GCA351607086BTDc.691T>G (p.Phe231Val)
c.399+2550T>G (n.399+2550T>G)
c.165+2550T>G (n.165+2550T>G)
c.751T>G (p.Phe251Val)
c.757T>G (p.Phe253Val)
c.469T>G (p.Phe157Val)
c.*2469T>G (n.*2469T>G)
3g.15644608T>ACA351607093BTDc.692T>A (p.Phe231Tyr)
c.399+2551T>A (n.399+2551T>A)
c.165+2551T>A (n.165+2551T>A)
c.752T>A (p.Phe251Tyr)
c.758T>A (p.Phe253Tyr)
c.470T>A (p.Phe157Tyr)
c.*2470T>A (n.*2470T>A)
3g.15644608T>CCA351607091BTDc.692T>C (p.Phe231Ser)
c.399+2551T>C (n.399+2551T>C)
c.165+2551T>C (n.165+2551T>C)
c.752T>C (p.Phe251Ser)
c.758T>C (p.Phe253Ser)
c.470T>C (p.Phe157Ser)
c.*2470T>C (n.*2470T>C)
3g.15644608T>GCA351607089BTDc.692T>G (p.Phe231Cys)
c.399+2551T>G (n.399+2551T>G)
c.165+2551T>G (n.165+2551T>G)
c.752T>G (p.Phe251Cys)
c.758T>G (p.Phe253Cys)
c.470T>G (p.Phe157Cys)
c.*2470T>G (n.*2470T>G)
3g.15644609T>ACA351607095BTDc.693T>A (p.Phe231Leu)
c.399+2552T>A (n.399+2552T>A)
c.165+2552T>A (n.165+2552T>A)
c.753T>A (p.Phe251Leu)
c.759T>A (p.Phe253Leu)
c.471T>A (p.Phe157Leu)
c.*2471T>A (n.*2471T>A)
3g.15644609T>CCA432819279BTDc.693T>C (p.Phe231=)
c.399+2552T>C (n.399+2552T>C)
c.165+2552T>C (n.165+2552T>C)
c.753T>C (p.Phe251=)
c.759T>C (p.Phe253=)
c.471T>C (p.Phe157=)
c.*2471T>C (n.*2471T>C)
3g.15644609T>GCA351607097BTDc.693T>G (p.Phe231Leu)
c.399+2552T>G (n.399+2552T>G)
c.165+2552T>G (n.165+2552T>G)
c.753T>G (p.Phe251Leu)
c.759T>G (p.Phe253Leu)
c.471T>G (p.Phe157Leu)
c.*2471T>G (n.*2471T>G)
3g.15644610G>ACA351607098BTDc.694G>A (p.Asp232Asn)
c.399+2553G>A (n.399+2553G>A)
c.165+2553G>A (n.165+2553G>A)
c.754G>A (p.Asp252Asn)
c.760G>A (p.Asp254Asn)
c.472G>A (p.Asp158Asn)
c.*2472G>A (n.*2472G>A)
 dbSNP gnomAD v4
3g.15644610G>CCA351607100BTDc.694G>C (p.Asp232His)
c.399+2553G>C (n.399+2553G>C)
c.165+2553G>C (n.165+2553G>C)
c.754G>C (p.Asp252His)
c.760G>C (p.Asp254His)
c.472G>C (p.Asp158His)
c.*2472G>C (n.*2472G>C)
3g.15644610G=CA1347664083BTDc.694G= (p.Asp232=)
c.399+2553G= (n.399+2553G=)
c.165+2553G= (n.165+2553G=)
c.754G= (p.Asp252=)
c.760G= (p.Asp254=)
c.472G= (p.Asp158=)
c.*2472G= (n.*2472G=)
3g.15644610G>TCA351607102BTDc.694G>T (p.Asp232Tyr)
c.399+2553G>T (n.399+2553G>T)
c.165+2553G>T (n.165+2553G>T)
c.754G>T (p.Asp252Tyr)
c.760G>T (p.Asp254Tyr)
c.472G>T (p.Asp158Tyr)
c.*2472G>T (n.*2472G>T)
3g.15644611A=CA1347664086BTDc.695A= (p.Asp232=)
c.399+2554A= (n.399+2554A=)
c.165+2554A= (n.165+2554A=)
c.755A= (p.Asp252=)
c.761A= (p.Asp254=)
c.473A= (p.Asp158=)
c.*2473A= (n.*2473A=)
3g.15644611A>CCA351607105BTDc.695A>C (p.Asp232Ala)
c.399+2554A>C (n.399+2554A>C)
c.165+2554A>C (n.165+2554A>C)
c.755A>C (p.Asp252Ala)
c.761A>C (p.Asp254Ala)
c.473A>C (p.Asp158Ala)
c.*2473A>C (n.*2473A>C)
3g.15644611A>GCA278012BTDc.695A>G (p.Asp232Gly)
c.399+2554A>G (n.399+2554A>G)
c.165+2554A>G (n.165+2554A>G)
c.755A>G (p.Asp252Gly)
c.761A>G (p.Asp254Gly)
c.473A>G (p.Asp158Gly)
c.*2473A>G (n.*2473A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644611A>TCA351607107BTDc.695A>T (p.Asp232Val)
c.399+2554A>T (n.399+2554A>T)
c.165+2554A>T (n.165+2554A>T)
c.755A>T (p.Asp252Val)
c.761A>T (p.Asp254Val)
c.473A>T (p.Asp158Val)
c.*2473A>T (n.*2473A>T)
3g.15644612C>ACA351607110BTDc.696C>A (p.Asp232Glu)
c.399+2555C>A (n.399+2555C>A)
c.165+2555C>A (n.165+2555C>A)
c.756C>A (p.Asp252Glu)
c.762C>A (p.Asp254Glu)
c.474C>A (p.Asp158Glu)
c.*2474C>A (n.*2474C>A)
 gnomAD v4
3g.15644612C=CA1347664089BTDc.696C= (p.Asp232=)
c.399+2555C= (n.399+2555C=)
c.165+2555C= (n.165+2555C=)
c.756C= (p.Asp252=)
c.762C= (p.Asp254=)
c.474C= (p.Asp158=)
c.*2474C= (n.*2474C=)
3g.15644612C>GCA351607111BTDc.696C>G (p.Asp232Glu)
c.399+2555C>G (n.399+2555C>G)
c.165+2555C>G (n.165+2555C>G)
c.756C>G (p.Asp252Glu)
c.762C>G (p.Asp254Glu)
c.474C>G (p.Asp158Glu)
c.*2474C>G (n.*2474C>G)
3g.15644612C>TCA2277372BTDc.696C>T (p.Asp232=)
c.399+2555C>T (n.399+2555C>T)
c.165+2555C>T (n.165+2555C>T)
c.756C>T (p.Asp252=)
c.762C>T (p.Asp254=)
c.474C>T (p.Asp158=)
c.*2474C>T (n.*2474C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644613C>ACA351607114BTDc.697C>A (p.Pro233Thr)
c.399+2556C>A (n.399+2556C>A)
c.165+2556C>A (n.165+2556C>A)
c.757C>A (p.Pro253Thr)
c.763C>A (p.Pro255Thr)
c.475C>A (p.Pro159Thr)
c.*2475C>A (n.*2475C>A)
3g.15644613C=CA1347664092BTDc.697C= (p.Pro233=)
c.399+2556C= (n.399+2556C=)
c.165+2556C= (n.165+2556C=)
c.757C= (p.Pro253=)
c.763C= (p.Pro255=)
c.475C= (p.Pro159=)
c.*2475C= (n.*2475C=)
3g.15644613C>GCA351607115BTDc.697C>G (p.Pro233Ala)
c.399+2556C>G (n.399+2556C>G)
c.165+2556C>G (n.165+2556C>G)
c.757C>G (p.Pro253Ala)
c.763C>G (p.Pro255Ala)
c.475C>G (p.Pro159Ala)
c.*2475C>G (n.*2475C>G)
3g.15644613C>TCA278256BTDc.697C>T (p.Pro233Ser)
c.399+2556C>T (n.399+2556C>T)
c.165+2556C>T (n.165+2556C>T)
c.757C>T (p.Pro253Ser)
c.763C>T (p.Pro255Ser)
c.475C>T (p.Pro159Ser)
c.*2475C>T (n.*2475C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644614C>ACA351607119BTDc.698C>A (p.Pro233His)
c.399+2557C>A (n.399+2557C>A)
c.165+2557C>A (n.165+2557C>A)
c.758C>A (p.Pro253His)
c.764C>A (p.Pro255His)
c.476C>A (p.Pro159His)
c.*2476C>A (n.*2476C>A)
3g.15644614C=CA1347664097BTDc.698C= (p.Pro233=)
c.399+2557C= (n.399+2557C=)
c.165+2557C= (n.165+2557C=)
c.758C= (p.Pro253=)
c.764C= (p.Pro255=)
c.476C= (p.Pro159=)
c.*2476C= (n.*2476C=)
3g.15644614C>GCA351607120BTDc.698C>G (p.Pro233Arg)
c.399+2557C>G (n.399+2557C>G)
c.165+2557C>G (n.165+2557C>G)
c.758C>G (p.Pro253Arg)
c.764C>G (p.Pro255Arg)
c.476C>G (p.Pro159Arg)
c.*2476C>G (n.*2476C>G)
3g.15644614C>TCA278390BTDc.698C>T (p.Pro233Leu)
c.399+2557C>T (n.399+2557C>T)
c.165+2557C>T (n.165+2557C>T)
c.758C>T (p.Pro253Leu)
c.764C>T (p.Pro255Leu)
c.476C>T (p.Pro159Leu)
c.*2476C>T (n.*2476C>T)
 ClinVar dbSNP
3g.15644615T>ACA432819289BTDc.699T>A (p.Pro233=)
c.399+2558T>A (n.399+2558T>A)
c.165+2558T>A (n.165+2558T>A)
c.759T>A (p.Pro253=)
c.765T>A (p.Pro255=)
c.477T>A (p.Pro159=)
c.*2477T>A (n.*2477T>A)
3g.15644615T>CCA432819290BTDc.699T>C (p.Pro233=)
c.399+2558T>C (n.399+2558T>C)
c.165+2558T>C (n.165+2558T>C)
c.759T>C (p.Pro253=)
c.765T>C (p.Pro255=)
c.477T>C (p.Pro159=)
c.*2477T>C (n.*2477T>C)
 ClinVar
3g.15644615T>GCA432819292BTDc.699T>G (p.Pro233=)
c.399+2558T>G (n.399+2558T>G)
c.165+2558T>G (n.165+2558T>G)
c.759T>G (p.Pro253=)
c.765T>G (p.Pro255=)
c.477T>G (p.Pro159=)
c.*2477T>G (n.*2477T>G)
3g.15644616G>ACA2277373BTDc.700G>A (p.Ala234Thr)
c.399+2559G>A (n.399+2559G>A)
c.165+2559G>A (n.165+2559G>A)
c.760G>A (p.Ala254Thr)
c.766G>A (p.Ala256Thr)
c.478G>A (p.Ala160Thr)
c.*2478G>A (n.*2478G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644616G>CCA351607122BTDc.700G>C (p.Ala234Pro)
c.399+2559G>C (n.399+2559G>C)
c.165+2559G>C (n.165+2559G>C)
c.760G>C (p.Ala254Pro)
c.766G>C (p.Ala256Pro)
c.478G>C (p.Ala160Pro)
c.*2478G>C (n.*2478G>C)
3g.15644616G=CA1347664099BTDc.700G= (p.Ala234=)
c.399+2559G= (n.399+2559G=)
c.165+2559G= (n.165+2559G=)
c.760G= (p.Ala254=)
c.766G= (p.Ala256=)
c.478G= (p.Ala160=)
c.*2478G= (n.*2478G=)
3g.15644616G>TCA351607124BTDc.700G>T (p.Ala234Ser)
c.399+2559G>T (n.399+2559G>T)
c.165+2559G>T (n.165+2559G>T)
c.760G>T (p.Ala254Ser)
c.766G>T (p.Ala256Ser)
c.478G>T (p.Ala160Ser)
c.*2478G>T (n.*2478G>T)
 gnomAD v4
3g.15644617C>ACA351607126BTDc.701C>A (p.Ala234Asp)
c.399+2560C>A (n.399+2560C>A)
c.165+2560C>A (n.165+2560C>A)
c.761C>A (p.Ala254Asp)
c.767C>A (p.Ala256Asp)
c.479C>A (p.Ala160Asp)
c.*2479C>A (n.*2479C>A)
3g.15644617C=CA1347664100BTDc.701C= (p.Ala234=)
c.399+2560C= (n.399+2560C=)
c.165+2560C= (n.165+2560C=)
c.761C= (p.Ala254=)
c.767C= (p.Ala256=)
c.479C= (p.Ala160=)
c.*2479C= (n.*2479C=)
3g.15644617C>GCA351607130BTDc.701C>G (p.Ala234Gly)
c.399+2560C>G (n.399+2560C>G)
c.165+2560C>G (n.165+2560C>G)
c.761C>G (p.Ala254Gly)
c.767C>G (p.Ala256Gly)
c.479C>G (p.Ala160Gly)
c.*2479C>G (n.*2479C>G)
3g.15644617C>TCA351607128BTDc.701C>T (p.Ala234Val)
c.399+2560C>T (n.399+2560C>T)
c.165+2560C>T (n.165+2560C>T)
c.761C>T (p.Ala254Val)
c.767C>T (p.Ala256Val)
c.479C>T (p.Ala160Val)
c.*2479C>T (n.*2479C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644618C>ACA432819300BTDc.702C>A (p.Ala234=)
c.399+2561C>A (n.399+2561C>A)
c.165+2561C>A (n.165+2561C>A)
c.762C>A (p.Ala254=)
c.768C>A (p.Ala256=)
c.480C>A (p.Ala160=)
c.*2480C>A (n.*2480C>A)
3g.15644618C>GCA432819301BTDc.702C>G (p.Ala234=)
c.399+2561C>G (n.399+2561C>G)
c.165+2561C>G (n.165+2561C>G)
c.762C>G (p.Ala254=)
c.768C>G (p.Ala256=)
c.480C>G (p.Ala160=)
c.*2480C>G (n.*2480C>G)
3g.15644618C>TCA432819302BTDc.702C>T (p.Ala234=)
c.399+2561C>T (n.399+2561C>T)
c.165+2561C>T (n.165+2561C>T)
c.762C>T (p.Ala254=)
c.768C>T (p.Ala256=)
c.480C>T (p.Ala160=)
c.*2480C>T (n.*2480C>T)
3g.15644619A=CA1347664105BTDc.703A= (p.Ile235=)
c.399+2562A= (n.399+2562A=)
c.165+2562A= (n.165+2562A=)
c.763A= (p.Ile255=)
c.769A= (p.Ile257=)
c.481A= (p.Ile161=)
c.*2481A= (n.*2481A=)
3g.15644619A>CCA351607132BTDc.703A>C (p.Ile235Leu)
c.399+2562A>C (n.399+2562A>C)
c.165+2562A>C (n.165+2562A>C)
c.763A>C (p.Ile255Leu)
c.769A>C (p.Ile257Leu)
c.481A>C (p.Ile161Leu)
c.*2481A>C (n.*2481A>C)
 gnomAD v4
3g.15644619A>GCA351607133BTDc.703A>G (p.Ile235Val)
c.399+2562A>G (n.399+2562A>G)
c.165+2562A>G (n.165+2562A>G)
c.763A>G (p.Ile255Val)
c.769A>G (p.Ile257Val)
c.481A>G (p.Ile161Val)
c.*2481A>G (n.*2481A>G)
 dbSNP gnomAD v4
3g.15644619A>TCA351607135BTDc.703A>T (p.Ile235Phe)
c.399+2562A>T (n.399+2562A>T)
c.165+2562A>T (n.165+2562A>T)
c.763A>T (p.Ile255Phe)
c.769A>T (p.Ile257Phe)
c.481A>T (p.Ile161Phe)
c.*2481A>T (n.*2481A>T)
3g.15644620T>ACA351607137BTDc.704T>A (p.Ile235Asn)
c.399+2563T>A (n.399+2563T>A)
c.165+2563T>A (n.165+2563T>A)
c.764T>A (p.Ile255Asn)
c.770T>A (p.Ile257Asn)
c.482T>A (p.Ile161Asn)
c.*2482T>A (n.*2482T>A)
3g.15644620T>CCA278258BTDc.704T>C (p.Ile235Thr)
c.399+2563T>C (n.399+2563T>C)
c.165+2563T>C (n.165+2563T>C)
c.764T>C (p.Ile255Thr)
c.770T>C (p.Ile257Thr)
c.482T>C (p.Ile161Thr)
c.*2482T>C (n.*2482T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644620T>GCA351607140BTDc.704T>G (p.Ile235Ser)
c.399+2563T>G (n.399+2563T>G)
c.165+2563T>G (n.165+2563T>G)
c.764T>G (p.Ile255Ser)
c.770T>G (p.Ile257Ser)
c.482T>G (p.Ile161Ser)
c.*2482T>G (n.*2482T>G)
3g.15644620T=CA1347664111BTDc.704T= (p.Ile235=)
c.399+2563T= (n.399+2563T=)
c.165+2563T= (n.165+2563T=)
c.764T= (p.Ile255=)
c.770T= (p.Ile257=)
c.482T= (p.Ile161=)
c.*2482T= (n.*2482T=)
3g.15644621C>ACA432819307BTDc.705C>A (p.Ile235=)
c.399+2564C>A (n.399+2564C>A)
c.165+2564C>A (n.165+2564C>A)
c.765C>A (p.Ile255=)
c.771C>A (p.Ile257=)
c.483C>A (p.Ile161=)
c.*2483C>A (n.*2483C>A)
3g.15644621C=CA1347664113BTDc.705C= (p.Ile235=)
c.399+2564C= (n.399+2564C=)
c.165+2564C= (n.165+2564C=)
c.765C= (p.Ile255=)
c.771C= (p.Ile257=)
c.483C= (p.Ile161=)
c.*2483C= (n.*2483C=)
3g.15644621C>GCA351607143BTDc.705C>G (p.Ile235Met)
c.399+2564C>G (n.399+2564C>G)
c.165+2564C>G (n.165+2564C>G)
c.765C>G (p.Ile255Met)
c.771C>G (p.Ile257Met)
c.483C>G (p.Ile161Met)
c.*2483C>G (n.*2483C>G)
 ClinVar dbSNP
3g.15644621C>TCA432819308BTDc.705C>T (p.Ile235=)
c.399+2564C>T (n.399+2564C>T)
c.165+2564C>T (n.165+2564C>T)
c.765C>T (p.Ile255=)
c.771C>T (p.Ile257=)
c.483C>T (p.Ile161=)
c.*2483C>T (n.*2483C>T)
3g.15644622A=CA1347664117BTDc.706A= (p.Arg236=)
c.399+2565A= (n.399+2565A=)
c.165+2565A= (n.165+2565A=)
c.766A= (p.Arg256=)
c.772A= (p.Arg258=)
c.484A= (p.Arg162=)
c.*2484A= (n.*2484A=)
3g.15644622A>CCA432819309BTDc.706A>C (p.Arg236=)
c.399+2565A>C (n.399+2565A>C)
c.165+2565A>C (n.165+2565A>C)
c.766A>C (p.Arg256=)
c.772A>C (p.Arg258=)
c.484A>C (p.Arg162=)
c.*2484A>C (n.*2484A>C)
3g.15644622A>GCA351607145BTDc.706A>G (p.Arg236Gly)
c.399+2565A>G (n.399+2565A>G)
c.165+2565A>G (n.165+2565A>G)
c.766A>G (p.Arg256Gly)
c.772A>G (p.Arg258Gly)
c.484A>G (p.Arg162Gly)
c.*2484A>G (n.*2484A>G)
 dbSNP gnomAD v2
3g.15644622A>TCA351607147BTDc.706A>T (p.Arg236Ter)
c.399+2565A>T (n.399+2565A>T)
c.165+2565A>T (n.165+2565A>T)
c.766A>T (p.Arg256Ter)
c.772A>T (p.Arg258Ter)
c.484A>T (p.Arg162Ter)
c.*2484A>T (n.*2484A>T)
3g.15644623G>ACA351607148BTDc.707G>A (p.Arg236Lys)
c.399+2566G>A (n.399+2566G>A)
c.165+2566G>A (n.165+2566G>A)
c.767G>A (p.Arg256Lys)
c.773G>A (p.Arg258Lys)
c.485G>A (p.Arg162Lys)
c.*2485G>A (n.*2485G>A)
3g.15644623G>CCA351607150BTDc.707G>C (p.Arg236Thr)
c.399+2566G>C (n.399+2566G>C)
c.165+2566G>C (n.165+2566G>C)
c.767G>C (p.Arg256Thr)
c.773G>C (p.Arg258Thr)
c.485G>C (p.Arg162Thr)
c.*2485G>C (n.*2485G>C)
3g.15644623G>TCA351607152BTDc.707G>T (p.Arg236Ile)
c.399+2566G>T (n.399+2566G>T)
c.165+2566G>T (n.165+2566G>T)
c.767G>T (p.Arg256Ile)
c.773G>T (p.Arg258Ile)
c.485G>T (p.Arg162Ile)
c.*2485G>T (n.*2485G>T)
3g.15644624A>CCA351607156BTDc.708A>C (p.Arg236Ser)
c.399+2567A>C (n.399+2567A>C)
c.165+2567A>C (n.165+2567A>C)
c.768A>C (p.Arg256Ser)
c.774A>C (p.Arg258Ser)
c.486A>C (p.Arg162Ser)
c.*2486A>C (n.*2486A>C)
3g.15644624A>GCA432819316BTDc.708A>G (p.Arg236=)
c.399+2567A>G (n.399+2567A>G)
c.165+2567A>G (n.165+2567A>G)
c.768A>G (p.Arg256=)
c.774A>G (p.Arg258=)
c.486A>G (p.Arg162=)
c.*2486A>G (n.*2486A>G)
3g.15644624A>TCA351607154BTDc.708A>T (p.Arg236Ser)
c.399+2567A>T (n.399+2567A>T)
c.165+2567A>T (n.165+2567A>T)
c.768A>T (p.Arg256Ser)
c.774A>T (p.Arg258Ser)
c.486A>T (p.Arg162Ser)
c.*2486A>T (n.*2486A>T)
3g.15644625G>ACA351607162BTDc.709G>A (p.Val237Ile)
c.399+2568G>A (n.399+2568G>A)
c.165+2568G>A (n.165+2568G>A)
c.769G>A (p.Val257Ile)
c.775G>A (p.Val259Ile)
c.487G>A (p.Val163Ile)
c.*2487G>A (n.*2487G>A)
3g.15644625G>CCA351607164BTDc.709G>C (p.Val237Leu)
c.399+2568G>C (n.399+2568G>C)
c.165+2568G>C (n.165+2568G>C)
c.769G>C (p.Val257Leu)
c.775G>C (p.Val259Leu)
c.487G>C (p.Val163Leu)
c.*2487G>C (n.*2487G>C)
3g.15644625G>TCA351607165BTDc.709G>T (p.Val237Phe)
c.399+2568G>T (n.399+2568G>T)
c.165+2568G>T (n.165+2568G>T)
c.769G>T (p.Val257Phe)
c.775G>T (p.Val259Phe)
c.487G>T (p.Val163Phe)
c.*2487G>T (n.*2487G>T)
 gnomAD v4
3g.15644626T>ACA351607167BTDc.710T>A (p.Val237Asp)
c.399+2569T>A (n.399+2569T>A)
c.165+2569T>A (n.165+2569T>A)
c.770T>A (p.Val257Asp)
c.776T>A (p.Val259Asp)
c.488T>A (p.Val163Asp)
c.*2488T>A (n.*2488T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644626T>CCA351607170BTDc.710T>C (p.Val237Ala)
c.399+2569T>C (n.399+2569T>C)
c.165+2569T>C (n.165+2569T>C)
c.770T>C (p.Val257Ala)
c.776T>C (p.Val259Ala)
c.488T>C (p.Val163Ala)
c.*2488T>C (n.*2488T>C)
3g.15644626T>GCA351607172BTDc.710T>G (p.Val237Gly)
c.399+2569T>G (n.399+2569T>G)
c.165+2569T>G (n.165+2569T>G)
c.770T>G (p.Val257Gly)
c.776T>G (p.Val259Gly)
c.488T>G (p.Val163Gly)
c.*2488T>G (n.*2488T>G)
3g.15644626T=CA1347664120BTDc.710T= (p.Val237=)
c.399+2569T= (n.399+2569T=)
c.165+2569T= (n.165+2569T=)
c.770T= (p.Val257=)
c.776T= (p.Val259=)
c.488T= (p.Val163=)
c.*2488T= (n.*2488T=)
3g.15644627C>ACA432819325BTDc.711C>A (p.Val237=)
c.399+2570C>A (n.399+2570C>A)
c.165+2570C>A (n.165+2570C>A)
c.771C>A (p.Val257=)
c.777C>A (p.Val259=)
c.489C>A (p.Val163=)
c.*2489C>A (n.*2489C>A)
3g.15644627C>GCA432819324BTDc.711C>G (p.Val237=)
c.399+2570C>G (n.399+2570C>G)
c.165+2570C>G (n.165+2570C>G)
c.771C>G (p.Val257=)
c.777C>G (p.Val259=)
c.489C>G (p.Val163=)
c.*2489C>G (n.*2489C>G)
3g.15644627C>TCA432819323BTDc.711C>T (p.Val237=)
c.399+2570C>T (n.399+2570C>T)
c.165+2570C>T (n.165+2570C>T)
c.771C>T (p.Val257=)
c.777C>T (p.Val259=)
c.489C>T (p.Val163=)
c.*2489C>T (n.*2489C>T)
 ClinVar
3g.15644628C>ACA351607174BTDc.712C>A (p.Leu238Ile)
c.399+2571C>A (n.399+2571C>A)
c.165+2571C>A (n.165+2571C>A)
c.772C>A (p.Leu258Ile)
c.778C>A (p.Leu260Ile)
c.490C>A (p.Leu164Ile)
c.*2490C>A (n.*2490C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.15644628C=CA1347664125BTDc.712C= (p.Leu238=)
c.399+2571C= (n.399+2571C=)
c.165+2571C= (n.165+2571C=)
c.772C= (p.Leu258=)
c.778C= (p.Leu260=)
c.490C= (p.Leu164=)
c.*2490C= (n.*2490C=)
3g.15644628C>GCA351607176BTDc.712C>G (p.Leu238Val)
c.399+2571C>G (n.399+2571C>G)
c.165+2571C>G (n.165+2571C>G)
c.772C>G (p.Leu258Val)
c.778C>G (p.Leu260Val)
c.490C>G (p.Leu164Val)
c.*2490C>G (n.*2490C>G)
3g.15644628C>TCA351607178BTDc.712C>T (p.Leu238Phe)
c.399+2571C>T (n.399+2571C>T)
c.165+2571C>T (n.165+2571C>T)
c.772C>T (p.Leu258Phe)
c.778C>T (p.Leu260Phe)
c.490C>T (p.Leu164Phe)
c.*2490C>T (n.*2490C>T)
3g.15644629T>ACA351607181BTDc.713T>A (p.Leu238His)
c.399+2572T>A (n.399+2572T>A)
c.165+2572T>A (n.165+2572T>A)
c.773T>A (p.Leu258His)
c.779T>A (p.Leu260His)
c.491T>A (p.Leu164His)
c.*2491T>A (n.*2491T>A)
3g.15644629T>CCA351607183BTDc.713T>C (p.Leu238Pro)
c.399+2572T>C (n.399+2572T>C)
c.165+2572T>C (n.165+2572T>C)
c.773T>C (p.Leu258Pro)
c.779T>C (p.Leu260Pro)
c.491T>C (p.Leu164Pro)
c.*2491T>C (n.*2491T>C)
3g.15644629T>GCA351607185BTDc.713T>G (p.Leu238Arg)
c.399+2572T>G (n.399+2572T>G)
c.165+2572T>G (n.165+2572T>G)
c.773T>G (p.Leu258Arg)
c.779T>G (p.Leu260Arg)
c.491T>G (p.Leu164Arg)
c.*2491T>G (n.*2491T>G)
3g.15644630C>ACA432819332BTDc.714C>A (p.Leu238=)
c.399+2573C>A (n.399+2573C>A)
c.165+2573C>A (n.165+2573C>A)
c.774C>A (p.Leu258=)
c.780C>A (p.Leu260=)
c.492C>A (p.Leu164=)
c.*2492C>A (n.*2492C>A)
3g.15644630C>GCA432819334BTDc.714C>G (p.Leu238=)
c.399+2573C>G (n.399+2573C>G)
c.165+2573C>G (n.165+2573C>G)
c.774C>G (p.Leu258=)
c.780C>G (p.Leu260=)
c.492C>G (p.Leu164=)
c.*2492C>G (n.*2492C>G)
3g.15644630C>TCA432819335BTDc.714C>T (p.Leu238=)
c.399+2573C>T (n.399+2573C>T)
c.165+2573C>T (n.165+2573C>T)
c.774C>T (p.Leu258=)
c.780C>T (p.Leu260=)
c.492C>T (p.Leu164=)
c.*2492C>T (n.*2492C>T)
 ClinVar dbSNP gnomAD v4
3g.15644631A>CCA432819336BTDc.715A>C (p.Arg239=)
c.399+2574A>C (n.399+2574A>C)
c.165+2574A>C (n.165+2574A>C)
c.775A>C (p.Arg259=)
c.781A>C (p.Arg261=)
c.493A>C (p.Arg165=)
c.*2493A>C (n.*2493A>C)
3g.15644631A>GCA351607188BTDc.715A>G (p.Arg239Gly)
c.399+2574A>G (n.399+2574A>G)
c.165+2574A>G (n.165+2574A>G)
c.775A>G (p.Arg259Gly)
c.781A>G (p.Arg261Gly)
c.493A>G (p.Arg165Gly)
c.*2493A>G (n.*2493A>G)
3g.15644631A>TCA351607190BTDc.715A>T (p.Arg239Ter)
c.399+2574A>T (n.399+2574A>T)
c.165+2574A>T (n.165+2574A>T)
c.775A>T (p.Arg259Ter)
c.781A>T (p.Arg261Ter)
c.493A>T (p.Arg165Ter)
c.*2493A>T (n.*2493A>T)
3g.15644632G>ACA2277374BTDc.716G>A (p.Arg239Lys)
c.399+2575G>A (n.399+2575G>A)
c.165+2575G>A (n.165+2575G>A)
c.776G>A (p.Arg259Lys)
c.782G>A (p.Arg261Lys)
c.494G>A (p.Arg165Lys)
c.*2494G>A (n.*2494G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644632G>CCA351607192BTDc.716G>C (p.Arg239Thr)
c.399+2575G>C (n.399+2575G>C)
c.165+2575G>C (n.165+2575G>C)
c.776G>C (p.Arg259Thr)
c.782G>C (p.Arg261Thr)
c.494G>C (p.Arg165Thr)
c.*2494G>C (n.*2494G>C)
3g.15644632G=CA1347664130BTDc.716G= (p.Arg239=)
c.399+2575G= (n.399+2575G=)
c.165+2575G= (n.165+2575G=)
c.776G= (p.Arg259=)
c.782G= (p.Arg261=)
c.494G= (p.Arg165=)
c.*2494G= (n.*2494G=)
3g.15644632G>TCA351607194BTDc.716G>T (p.Arg239Ile)
c.399+2575G>T (n.399+2575G>T)
c.165+2575G>T (n.165+2575G>T)
c.776G>T (p.Arg259Ile)
c.782G>T (p.Arg261Ile)
c.494G>T (p.Arg165Ile)
c.*2494G>T (n.*2494G>T)
3g.15644633A>CCA351607195BTDc.717A>C (p.Arg239Ser)
c.399+2576A>C (n.399+2576A>C)
c.165+2576A>C (n.165+2576A>C)
c.777A>C (p.Arg259Ser)
c.783A>C (p.Arg261Ser)
c.495A>C (p.Arg165Ser)
c.*2495A>C (n.*2495A>C)
3g.15644633A>GCA432819338BTDc.717A>G (p.Arg239=)
c.399+2576A>G (n.399+2576A>G)
c.165+2576A>G (n.165+2576A>G)
c.777A>G (p.Arg259=)
c.783A>G (p.Arg261=)
c.495A>G (p.Arg165=)
c.*2495A>G (n.*2495A>G)
3g.15644633A>TCA351607197BTDc.717A>T (p.Arg239Ser)
c.399+2576A>T (n.399+2576A>T)
c.165+2576A>T (n.165+2576A>T)
c.777A>T (p.Arg259Ser)
c.783A>T (p.Arg261Ser)
c.495A>T (p.Arg165Ser)
c.*2495A>T (n.*2495A>T)
3g.15644634G>ACA351607199BTDc.718G>A (p.Asp240Asn)
c.399+2577G>A (n.399+2577G>A)
c.165+2577G>A (n.165+2577G>A)
c.778G>A (p.Asp260Asn)
c.784G>A (p.Asp262Asn)
c.496G>A (p.Asp166Asn)
c.*2496G>A (n.*2496G>A)
3g.15644634G>CCA351607200BTDc.718G>C (p.Asp240His)
c.399+2577G>C (n.399+2577G>C)
c.165+2577G>C (n.165+2577G>C)
c.778G>C (p.Asp260His)
c.784G>C (p.Asp262His)
c.496G>C (p.Asp166His)
c.*2496G>C (n.*2496G>C)
3g.15644634G>TCA351607201BTDc.718G>T (p.Asp240Tyr)
c.399+2577G>T (n.399+2577G>T)
c.165+2577G>T (n.165+2577G>T)
c.778G>T (p.Asp260Tyr)
c.784G>T (p.Asp262Tyr)
c.496G>T (p.Asp166Tyr)
c.*2496G>T (n.*2496G>T)
3g.15644634_15644637delCA913102313BTDc.718_721del (p.Asp240ThrfsTer3)
c.399+2577_399+2580del (n.399+2577_399+2580del)
c.165+2577_165+2580del (n.165+2577_165+2580del)
c.778_781del (p.Asp260ThrfsTer3)
c.784_787del (p.Asp262ThrfsTer3)
c.496_499del (p.Asp166ThrfsTer3)
c.*2496_*2499del (n.*2496_*2499del)
3g.15644634_15644637delinsGACTCA1347664133BTDc.718_721delinsGACT (p.Asp240=)
c.399+2577_399+2580delinsGACT (n.399+2577_399+2580delinsGACT)
c.165+2577_165+2580delinsGACT (n.165+2577_165+2580delinsGACT)
c.778_781delinsGACT (p.Asp260=)
c.784_787delinsGACT (p.Asp262=)
c.496_499delinsGACT (p.Asp166=)
c.*2496_*2499delinsGACT (n.*2496_*2499delinsGACT)
3g.15644635A=CA1347664138BTDc.719A= (p.Asp240=)
c.399+2578A= (n.399+2578A=)
c.165+2578A= (n.165+2578A=)
c.779A= (p.Asp260=)
c.785A= (p.Asp262=)
c.497A= (p.Asp166=)
c.*2497A= (n.*2497A=)
3g.15644635A>CCA2277375BTDc.719A>C (p.Asp240Ala)
c.399+2578A>C (n.399+2578A>C)
c.165+2578A>C (n.165+2578A>C)
c.779A>C (p.Asp260Ala)
c.785A>C (p.Asp262Ala)
c.497A>C (p.Asp166Ala)
c.*2497A>C (n.*2497A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644635A>GCA351607202BTDc.719A>G (p.Asp240Gly)
c.399+2578A>G (n.399+2578A>G)
c.165+2578A>G (n.165+2578A>G)
c.779A>G (p.Asp260Gly)
c.785A>G (p.Asp262Gly)
c.497A>G (p.Asp166Gly)
c.*2497A>G (n.*2497A>G)
3g.15644635A>TCA351607203BTDc.719A>T (p.Asp240Val)
c.399+2578A>T (n.399+2578A>T)
c.165+2578A>T (n.165+2578A>T)
c.779A>T (p.Asp260Val)
c.785A>T (p.Asp262Val)
c.497A>T (p.Asp166Val)
c.*2497A>T (n.*2497A>T)
3g.15644637_15644639delCA658822117BTDc.721_723del (p.Tyr241del)
c.399+2580_399+2582del (n.399+2580_399+2582del)
c.165+2580_165+2582del (n.165+2580_165+2582del)
c.781_783del (p.Tyr261del)
c.787_789del (p.Tyr263del)
c.499_501del (p.Tyr167del)
c.*2499_*2501del (n.*2499_*2501del)
 ClinVar dbSNP
3g.15644636C>ACA351607204BTDc.720C>A (p.Asp240Glu)
c.399+2579C>A (n.399+2579C>A)
c.165+2579C>A (n.165+2579C>A)
c.780C>A (p.Asp260Glu)
c.786C>A (p.Asp262Glu)
c.498C>A (p.Asp166Glu)
c.*2498C>A (n.*2498C>A)
3g.15644636C>GCA351607205BTDc.720C>G (p.Asp240Glu)
c.399+2579C>G (n.399+2579C>G)
c.165+2579C>G (n.165+2579C>G)
c.780C>G (p.Asp260Glu)
c.786C>G (p.Asp262Glu)
c.498C>G (p.Asp166Glu)
c.*2498C>G (n.*2498C>G)
3g.15644636C>TCA432819342BTDc.720C>T (p.Asp240=)
c.399+2579C>T (n.399+2579C>T)
c.165+2579C>T (n.165+2579C>T)
c.780C>T (p.Asp260=)
c.786C>T (p.Asp262=)
c.498C>T (p.Asp166=)
c.*2498C>T (n.*2498C>T)
 gnomAD v4
3g.15644637T>ACA351607208BTDc.721T>A (p.Tyr241Asn)
c.399+2580T>A (n.399+2580T>A)
c.165+2580T>A (n.165+2580T>A)
c.781T>A (p.Tyr261Asn)
c.787T>A (p.Tyr263Asn)
c.499T>A (p.Tyr167Asn)
c.*2499T>A (n.*2499T>A)
3g.15644637T>CCA351607206BTDc.721T>C (p.Tyr241His)
c.399+2580T>C (n.399+2580T>C)
c.165+2580T>C (n.165+2580T>C)
c.781T>C (p.Tyr261His)
c.787T>C (p.Tyr263His)
c.499T>C (p.Tyr167His)
c.*2499T>C (n.*2499T>C)
3g.15644637T>GCA351607207BTDc.721T>G (p.Tyr241Asp)
c.399+2580T>G (n.399+2580T>G)
c.165+2580T>G (n.165+2580T>G)
c.781T>G (p.Tyr261Asp)
c.787T>G (p.Tyr263Asp)
c.499T>G (p.Tyr167Asp)
c.*2499T>G (n.*2499T>G)
3g.15644638A>CCA351607209BTDc.722A>C (p.Tyr241Ser)
c.399+2581A>C (n.399+2581A>C)
c.165+2581A>C (n.165+2581A>C)
c.782A>C (p.Tyr261Ser)
c.788A>C (p.Tyr263Ser)
c.500A>C (p.Tyr167Ser)
c.*2500A>C (n.*2500A>C)
3g.15644638A>GCA351607210BTDc.722A>G (p.Tyr241Cys)
c.399+2581A>G (n.399+2581A>G)
c.165+2581A>G (n.165+2581A>G)
c.782A>G (p.Tyr261Cys)
c.788A>G (p.Tyr263Cys)
c.500A>G (p.Tyr167Cys)
c.*2500A>G (n.*2500A>G)
3g.15644638A>TCA351607211BTDc.722A>T (p.Tyr241Phe)
c.399+2581A>T (n.399+2581A>T)
c.165+2581A>T (n.165+2581A>T)
c.782A>T (p.Tyr261Phe)
c.788A>T (p.Tyr263Phe)
c.500A>T (p.Tyr167Phe)
c.*2500A>T (n.*2500A>T)
3g.15644639C>ACA351607212BTDc.723C>A (p.Tyr241Ter)
c.399+2582C>A (n.399+2582C>A)
c.165+2582C>A (n.165+2582C>A)
c.783C>A (p.Tyr261Ter)
c.789C>A (p.Tyr263Ter)
c.501C>A (p.Tyr167Ter)
c.*2501C>A (n.*2501C>A)
3g.15644639C=CA1347664144BTDc.723C= (p.Tyr241=)
c.399+2582C= (n.399+2582C=)
c.165+2582C= (n.165+2582C=)
c.783C= (p.Tyr261=)
c.789C= (p.Tyr263=)
c.501C= (p.Tyr167=)
c.*2501C= (n.*2501C=)
3g.15644639C>GCA351607213BTDc.723C>G (p.Tyr241Ter)
c.399+2582C>G (n.399+2582C>G)
c.165+2582C>G (n.165+2582C>G)
c.783C>G (p.Tyr261Ter)
c.789C>G (p.Tyr263Ter)
c.501C>G (p.Tyr167Ter)
c.*2501C>G (n.*2501C>G)
3g.15644639C>TCA2277376BTDc.723C>T (p.Tyr241=)
c.399+2582C>T (n.399+2582C>T)
c.165+2582C>T (n.165+2582C>T)
c.783C>T (p.Tyr261=)
c.789C>T (p.Tyr263=)
c.501C>T (p.Tyr167=)
c.*2501C>T (n.*2501C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644640A>CCA351607214BTDc.724A>C (p.Lys242Gln)
c.399+2583A>C (n.399+2583A>C)
c.165+2583A>C (n.165+2583A>C)
c.784A>C (p.Lys262Gln)
c.790A>C (p.Lys264Gln)
c.502A>C (p.Lys168Gln)
c.*2502A>C (n.*2502A>C)
 gnomAD v4
3g.15644640A>GCA351607215BTDc.724A>G (p.Lys242Glu)
c.399+2583A>G (n.399+2583A>G)
c.165+2583A>G (n.165+2583A>G)
c.784A>G (p.Lys262Glu)
c.790A>G (p.Lys264Glu)
c.502A>G (p.Lys168Glu)
c.*2502A>G (n.*2502A>G)
3g.15644640A>TCA351607216BTDc.724A>T (p.Lys242Ter)
c.399+2583A>T (n.399+2583A>T)
c.165+2583A>T (n.165+2583A>T)
c.784A>T (p.Lys262Ter)
c.790A>T (p.Lys264Ter)
c.502A>T (p.Lys168Ter)
c.*2502A>T (n.*2502A>T)
3g.15644641A>CCA351607217BTDc.725A>C (p.Lys242Thr)
c.399+2584A>C (n.399+2584A>C)
c.165+2584A>C (n.165+2584A>C)
c.785A>C (p.Lys262Thr)
c.791A>C (p.Lys264Thr)
c.503A>C (p.Lys168Thr)
c.*2503A>C (n.*2503A>C)
3g.15644641A>GCA351607218BTDc.725A>G (p.Lys242Arg)
c.399+2584A>G (n.399+2584A>G)
c.165+2584A>G (n.165+2584A>G)
c.785A>G (p.Lys262Arg)
c.791A>G (p.Lys264Arg)
c.503A>G (p.Lys168Arg)
c.*2503A>G (n.*2503A>G)
3g.15644641A>TCA351607219BTDc.725A>T (p.Lys242Met)
c.399+2584A>T (n.399+2584A>T)
c.165+2584A>T (n.165+2584A>T)
c.785A>T (p.Lys262Met)
c.791A>T (p.Lys264Met)
c.503A>T (p.Lys168Met)
c.*2503A>T (n.*2503A>T)
3g.15644642G>ACA432819347BTDc.726G>A (p.Lys242=)
c.399+2585G>A (n.399+2585G>A)
c.165+2585G>A (n.165+2585G>A)
c.786G>A (p.Lys262=)
c.792G>A (p.Lys264=)
c.504G>A (p.Lys168=)
c.*2504G>A (n.*2504G>A)
 COSMIC
3g.15644642G>CCA351607221BTDc.726G>C (p.Lys242Asn)
c.399+2585G>C (n.399+2585G>C)
c.165+2585G>C (n.165+2585G>C)
c.786G>C (p.Lys262Asn)
c.792G>C (p.Lys264Asn)
c.504G>C (p.Lys168Asn)
c.*2504G>C (n.*2504G>C)
3g.15644642G>TCA351607220BTDc.726G>T (p.Lys242Asn)
c.399+2585G>T (n.399+2585G>T)
c.165+2585G>T (n.165+2585G>T)
c.786G>T (p.Lys262Asn)
c.792G>T (p.Lys264Asn)
c.504G>T (p.Lys168Asn)
c.*2504G>T (n.*2504G>T)
3g.15644643G>ACA351607222BTDc.727G>A (p.Val243Met)
c.399+2586G>A (n.399+2586G>A)
c.165+2586G>A (n.165+2586G>A)
c.787G>A (p.Val263Met)
c.793G>A (p.Val265Met)
c.505G>A (p.Val169Met)
c.*2505G>A (n.*2505G>A)
3g.15644643G>CCA351607223BTDc.727G>C (p.Val243Leu)
c.399+2586G>C (n.399+2586G>C)
c.165+2586G>C (n.165+2586G>C)
c.787G>C (p.Val263Leu)
c.793G>C (p.Val265Leu)
c.505G>C (p.Val169Leu)
c.*2505G>C (n.*2505G>C)
3g.15644643G=CA1347664147BTDc.727G= (p.Val243=)
c.399+2586G= (n.399+2586G=)
c.165+2586G= (n.165+2586G=)
c.787G= (p.Val263=)
c.793G= (p.Val265=)
c.505G= (p.Val169=)
c.*2505G= (n.*2505G=)
3g.15644643G>TCA2277377BTDc.727G>T (p.Val243Leu)
c.399+2586G>T (n.399+2586G>T)
c.165+2586G>T (n.165+2586G>T)
c.787G>T (p.Val263Leu)
c.793G>T (p.Val265Leu)
c.505G>T (p.Val169Leu)
c.*2505G>T (n.*2505G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644644T>ACA351607224BTDc.728T>A (p.Val243Glu)
c.399+2587T>A (n.399+2587T>A)
c.165+2587T>A (n.165+2587T>A)
c.788T>A (p.Val263Glu)
c.794T>A (p.Val265Glu)
c.506T>A (p.Val169Glu)
c.*2506T>A (n.*2506T>A)
3g.15644644T>CCA351607225BTDc.728T>C (p.Val243Ala)
c.399+2587T>C (n.399+2587T>C)
c.165+2587T>C (n.165+2587T>C)
c.788T>C (p.Val263Ala)
c.794T>C (p.Val265Ala)
c.506T>C (p.Val169Ala)
c.*2506T>C (n.*2506T>C)
3g.15644644T>GCA351607226BTDc.728T>G (p.Val243Gly)
c.399+2587T>G (n.399+2587T>G)
c.165+2587T>G (n.165+2587T>G)
c.788T>G (p.Val263Gly)
c.794T>G (p.Val265Gly)
c.506T>G (p.Val169Gly)
c.*2506T>G (n.*2506T>G)
3g.15644645G>ACA2277378BTDc.729G>A (p.Val243=)
c.399+2588G>A (n.399+2588G>A)
c.165+2588G>A (n.165+2588G>A)
c.789G>A (p.Val263=)
c.795G>A (p.Val265=)
c.507G>A (p.Val169=)
c.*2507G>A (n.*2507G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644645G>CCA432819349BTDc.729G>C (p.Val243=)
c.399+2588G>C (n.399+2588G>C)
c.165+2588G>C (n.165+2588G>C)
c.789G>C (p.Val263=)
c.795G>C (p.Val265=)
c.507G>C (p.Val169=)
c.*2507G>C (n.*2507G>C)
3g.15644645G=CA1347664151BTDc.729G= (p.Val243=)
c.399+2588G= (n.399+2588G=)
c.165+2588G= (n.165+2588G=)
c.789G= (p.Val263=)
c.795G= (p.Val265=)
c.507G= (p.Val169=)
c.*2507G= (n.*2507G=)
3g.15644645G>TCA432819350BTDc.729G>T (p.Val243=)
c.399+2588G>T (n.399+2588G>T)
c.165+2588G>T (n.165+2588G>T)
c.789G>T (p.Val263=)
c.795G>T (p.Val265=)
c.507G>T (p.Val169=)
c.*2507G>T (n.*2507G>T)
3g.15644646A>CCA351607227BTDc.730A>C (p.Lys244Gln)
c.399+2589A>C (n.399+2589A>C)
c.165+2589A>C (n.165+2589A>C)
c.790A>C (p.Lys264Gln)
c.796A>C (p.Lys266Gln)
c.508A>C (p.Lys170Gln)
c.*2508A>C (n.*2508A>C)
3g.15644646A>GCA351607228BTDc.730A>G (p.Lys244Glu)
c.399+2589A>G (n.399+2589A>G)
c.165+2589A>G (n.165+2589A>G)
c.790A>G (p.Lys264Glu)
c.796A>G (p.Lys266Glu)
c.508A>G (p.Lys170Glu)
c.*2508A>G (n.*2508A>G)
3g.15644646A>TCA351607229BTDc.730A>T (p.Lys244Ter)
c.399+2589A>T (n.399+2589A>T)
c.165+2589A>T (n.165+2589A>T)
c.790A>T (p.Lys264Ter)
c.796A>T (p.Lys266Ter)
c.508A>T (p.Lys170Ter)
c.*2508A>T (n.*2508A>T)
3g.15644647A>CCA351607230BTDc.731A>C (p.Lys244Thr)
c.399+2590A>C (n.399+2590A>C)
c.165+2590A>C (n.165+2590A>C)
c.791A>C (p.Lys264Thr)
c.797A>C (p.Lys266Thr)
c.509A>C (p.Lys170Thr)
c.*2509A>C (n.*2509A>C)
3g.15644647A>GCA351607231BTDc.731A>G (p.Lys244Arg)
c.399+2590A>G (n.399+2590A>G)
c.165+2590A>G (n.165+2590A>G)
c.791A>G (p.Lys264Arg)
c.797A>G (p.Lys266Arg)
c.509A>G (p.Lys170Arg)
c.*2509A>G (n.*2509A>G)
3g.15644647A>TCA351607232BTDc.731A>T (p.Lys244Met)
c.399+2590A>T (n.399+2590A>T)
c.165+2590A>T (n.165+2590A>T)
c.791A>T (p.Lys264Met)
c.797A>T (p.Lys266Met)
c.509A>T (p.Lys170Met)
c.*2509A>T (n.*2509A>T)

Number of alleles fetched