Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.15644426G>ACA432819183BTDc.510G>A (p.Gly170=)
c.399+2369G>A (n.399+2369G>A)
c.165+2369G>A (n.165+2369G>A)
c.570G>A (p.Gly190=)
c.576G>A (p.Gly192=)
c.288G>A (p.Gly96=)
c.*2288G>A (n.*2288G>A)
 dbSNP gnomAD v2
3g.15644426G>CCA432819186BTDc.510G>C (p.Gly170=)
c.399+2369G>C (n.399+2369G>C)
c.165+2369G>C (n.165+2369G>C)
c.570G>C (p.Gly190=)
c.576G>C (p.Gly192=)
c.288G>C (p.Gly96=)
c.*2288G>C (n.*2288G>C)
3g.15644426G=CA1347663635BTDc.510G= (p.Gly170=)
c.399+2369G= (n.399+2369G=)
c.165+2369G= (n.165+2369G=)
c.570G= (p.Gly190=)
c.576G= (p.Gly192=)
c.288G= (p.Gly96=)
c.*2288G= (n.*2288G=)
3g.15644426G>TCA432819184BTDc.510G>T (p.Gly170=)
c.399+2369G>T (n.399+2369G>T)
c.165+2369G>T (n.165+2369G>T)
c.570G>T (p.Gly190=)
c.576G>T (p.Gly192=)
c.288G>T (p.Gly96=)
c.*2288G>T (n.*2288G>T)
3g.15644427A>CCA432819193BTDc.511A>C (p.Arg171=)
c.399+2370A>C (n.399+2370A>C)
c.165+2370A>C (n.165+2370A>C)
c.571A>C (p.Arg191=)
c.577A>C (p.Arg193=)
c.289A>C (p.Arg97=)
c.*2289A>C (n.*2289A>C)
3g.15644427A>GCA351606425BTDc.511A>G (p.Arg171Gly)
c.399+2370A>G (n.399+2370A>G)
c.165+2370A>G (n.165+2370A>G)
c.571A>G (p.Arg191Gly)
c.577A>G (p.Arg193Gly)
c.289A>G (p.Arg97Gly)
c.*2289A>G (n.*2289A>G)
3g.15644427A>TCA351606427BTDc.511A>T (p.Arg171Ter)
c.399+2370A>T (n.399+2370A>T)
c.165+2370A>T (n.165+2370A>T)
c.571A>T (p.Arg191Ter)
c.577A>T (p.Arg193Ter)
c.289A>T (p.Arg97Ter)
c.*2289A>T (n.*2289A>T)
3g.15644428G>ACA351606429BTDc.512G>A (p.Arg171Lys)
c.399+2371G>A (n.399+2371G>A)
c.165+2371G>A (n.165+2371G>A)
c.572G>A (p.Arg191Lys)
c.578G>A (p.Arg193Lys)
c.290G>A (p.Arg97Lys)
c.*2290G>A (n.*2290G>A)
3g.15644428G>CCA351606430BTDc.512G>C (p.Arg171Thr)
c.399+2371G>C (n.399+2371G>C)
c.165+2371G>C (n.165+2371G>C)
c.572G>C (p.Arg191Thr)
c.578G>C (p.Arg193Thr)
c.290G>C (p.Arg97Thr)
c.*2290G>C (n.*2290G>C)
3g.15644428G>TCA351606433BTDc.512G>T (p.Arg171Ile)
c.399+2371G>T (n.399+2371G>T)
c.165+2371G>T (n.165+2371G>T)
c.572G>T (p.Arg191Ile)
c.578G>T (p.Arg193Ile)
c.290G>T (p.Arg97Ile)
c.*2290G>T (n.*2290G>T)
3g.15644429A>CCA351606435BTDc.513A>C (p.Arg171Ser)
c.399+2372A>C (n.399+2372A>C)
c.165+2372A>C (n.165+2372A>C)
c.573A>C (p.Arg191Ser)
c.579A>C (p.Arg193Ser)
c.291A>C (p.Arg97Ser)
c.*2291A>C (n.*2291A>C)
3g.15644429A>GCA432819201BTDc.513A>G (p.Arg171=)
c.399+2372A>G (n.399+2372A>G)
c.165+2372A>G (n.165+2372A>G)
c.573A>G (p.Arg191=)
c.579A>G (p.Arg193=)
c.291A>G (p.Arg97=)
c.*2291A>G (n.*2291A>G)
3g.15644429A>TCA351606437BTDc.513A>T (p.Arg171Ser)
c.399+2372A>T (n.399+2372A>T)
c.165+2372A>T (n.165+2372A>T)
c.573A>T (p.Arg191Ser)
c.579A>T (p.Arg193Ser)
c.291A>T (p.Arg97Ser)
c.*2291A>T (n.*2291A>T)
3g.15644430T>ACA351606440BTDc.514T>A (p.Tyr172Asn)
c.399+2373T>A (n.399+2373T>A)
c.165+2373T>A (n.165+2373T>A)
c.574T>A (p.Tyr192Asn)
c.580T>A (p.Tyr194Asn)
c.292T>A (p.Tyr98Asn)
c.*2292T>A (n.*2292T>A)
3g.15644430T>CCA351606441BTDc.514T>C (p.Tyr172His)
c.399+2373T>C (n.399+2373T>C)
c.165+2373T>C (n.165+2373T>C)
c.574T>C (p.Tyr192His)
c.580T>C (p.Tyr194His)
c.292T>C (p.Tyr98His)
c.*2292T>C (n.*2292T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.15644430T>GCA351606442BTDc.514T>G (p.Tyr172Asp)
c.399+2373T>G (n.399+2373T>G)
c.165+2373T>G (n.165+2373T>G)
c.574T>G (p.Tyr192Asp)
c.580T>G (p.Tyr194Asp)
c.292T>G (p.Tyr98Asp)
c.*2292T>G (n.*2292T>G)
3g.15644430T=CA1347663638BTDc.514T= (p.Tyr172=)
c.399+2373T= (n.399+2373T=)
c.165+2373T= (n.165+2373T=)
c.574T= (p.Tyr192=)
c.580T= (p.Tyr194=)
c.292T= (p.Tyr98=)
c.*2292T= (n.*2292T=)
3g.15644431A>CCA351606449BTDc.515A>C (p.Tyr172Ser)
c.399+2374A>C (n.399+2374A>C)
c.165+2374A>C (n.165+2374A>C)
c.575A>C (p.Tyr192Ser)
c.581A>C (p.Tyr194Ser)
c.293A>C (p.Tyr98Ser)
c.*2293A>C (n.*2293A>C)
3g.15644431A>GCA351606447BTDc.515A>G (p.Tyr172Cys)
c.399+2374A>G (n.399+2374A>G)
c.165+2374A>G (n.165+2374A>G)
c.575A>G (p.Tyr192Cys)
c.581A>G (p.Tyr194Cys)
c.293A>G (p.Tyr98Cys)
c.*2293A>G (n.*2293A>G)
3g.15644431A>TCA351606445BTDc.515A>T (p.Tyr172Phe)
c.399+2374A>T (n.399+2374A>T)
c.165+2374A>T (n.165+2374A>T)
c.575A>T (p.Tyr192Phe)
c.581A>T (p.Tyr194Phe)
c.293A>T (p.Tyr98Phe)
c.*2293A>T (n.*2293A>T)
3g.15644431dupCA2664667149BTDc.515dup (p.Tyr172Ter)
c.399+2374dup (n.399+2374dup)
c.165+2374dup (n.165+2374dup)
c.575dup (p.Tyr192Ter)
c.581dup (p.Tyr194Ter)
c.293dup (p.Tyr98Ter)
c.*2293dup (n.*2293dup)
 gnomAD v4
3g.15644432C>ACA2277342BTDc.516C>A (p.Tyr172Ter)
c.399+2375C>A (n.399+2375C>A)
c.165+2375C>A (n.165+2375C>A)
c.576C>A (p.Tyr192Ter)
c.582C>A (p.Tyr194Ter)
c.294C>A (p.Tyr98Ter)
c.*2294C>A (n.*2294C>A)
 ClinVar dbSNP ExAC
3g.15644432C=CA1347663639BTDc.516C= (p.Tyr172=)
c.399+2375C= (n.399+2375C=)
c.165+2375C= (n.165+2375C=)
c.576C= (p.Tyr192=)
c.582C= (p.Tyr194=)
c.294C= (p.Tyr98=)
c.*2294C= (n.*2294C=)
3g.15644432C>GCA351606452BTDc.516C>G (p.Tyr172Ter)
c.399+2375C>G (n.399+2375C>G)
c.165+2375C>G (n.165+2375C>G)
c.576C>G (p.Tyr192Ter)
c.582C>G (p.Tyr194Ter)
c.294C>G (p.Tyr98Ter)
c.*2294C>G (n.*2294C>G)
3g.15644432C>TCA432819206BTDc.516C>T (p.Tyr172=)
c.399+2375C>T (n.399+2375C>T)
c.165+2375C>T (n.165+2375C>T)
c.576C>T (p.Tyr192=)
c.582C>T (p.Tyr194=)
c.294C>T (p.Tyr98=)
c.*2294C>T (n.*2294C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644433C>ACA351606454BTDc.517C>A (p.Gln173Lys)
c.399+2376C>A (n.399+2376C>A)
c.165+2376C>A (n.165+2376C>A)
c.577C>A (p.Gln193Lys)
c.583C>A (p.Gln195Lys)
c.295C>A (p.Gln99Lys)
c.*2295C>A (n.*2295C>A)
3g.15644433C>GCA351606456BTDc.517C>G (p.Gln173Glu)
c.399+2376C>G (n.399+2376C>G)
c.165+2376C>G (n.165+2376C>G)
c.577C>G (p.Gln193Glu)
c.583C>G (p.Gln195Glu)
c.295C>G (p.Gln99Glu)
c.*2295C>G (n.*2295C>G)
3g.15644433C>TCA351606457BTDc.517C>T (p.Gln173Ter)
c.399+2376C>T (n.399+2376C>T)
c.165+2376C>T (n.165+2376C>T)
c.577C>T (p.Gln193Ter)
c.583C>T (p.Gln195Ter)
c.295C>T (p.Gln99Ter)
c.*2295C>T (n.*2295C>T)
3g.15644434A=CA1347663644BTDc.518A= (p.Gln173=)
c.399+2377A= (n.399+2377A=)
c.165+2377A= (n.165+2377A=)
c.578A= (p.Gln193=)
c.584A= (p.Gln195=)
c.296A= (p.Gln99=)
c.*2296A= (n.*2296A=)
3g.15644434A>CCA351606460BTDc.518A>C (p.Gln173Pro)
c.399+2377A>C (n.399+2377A>C)
c.165+2377A>C (n.165+2377A>C)
c.578A>C (p.Gln193Pro)
c.584A>C (p.Gln195Pro)
c.296A>C (p.Gln99Pro)
c.*2296A>C (n.*2296A>C)
3g.15644434A>GCA351606461BTDc.518A>G (p.Gln173Arg)
c.399+2377A>G (n.399+2377A>G)
c.165+2377A>G (n.165+2377A>G)
c.578A>G (p.Gln193Arg)
c.584A>G (p.Gln195Arg)
c.296A>G (p.Gln99Arg)
c.*2296A>G (n.*2296A>G)
 dbSNP
3g.15644434A>TCA351606463BTDc.518A>T (p.Gln173Leu)
c.399+2377A>T (n.399+2377A>T)
c.165+2377A>T (n.165+2377A>T)
c.578A>T (p.Gln193Leu)
c.584A>T (p.Gln195Leu)
c.296A>T (p.Gln99Leu)
c.*2296A>T (n.*2296A>T)
3g.15644434_15644437delinsAGTTCA1347663642BTDc.518_521delinsAGTT (p.Gln173=)
c.399+2377_399+2380delinsAGTT (n.399+2377_399+2380delinsAGTT)
c.165+2377_165+2380delinsAGTT (n.165+2377_165+2380delinsAGTT)
c.578_581delinsAGTT (p.Gln193=)
c.584_587delinsAGTT (p.Gln195=)
c.296_299delinsAGTT (p.Gln99=)
c.*2296_*2299delinsAGTT (n.*2296_*2299delinsAGTT)
3g.15644435G>ACA432819214BTDc.519G>A (p.Gln173=)
c.399+2378G>A (n.399+2378G>A)
c.165+2378G>A (n.165+2378G>A)
c.579G>A (p.Gln193=)
c.585G>A (p.Gln195=)
c.297G>A (p.Gln99=)
c.*2297G>A (n.*2297G>A)
 gnomAD v4
3g.15644435G>CCA351606465BTDc.519G>C (p.Gln173His)
c.399+2378G>C (n.399+2378G>C)
c.165+2378G>C (n.165+2378G>C)
c.579G>C (p.Gln193His)
c.585G>C (p.Gln195His)
c.297G>C (p.Gln99His)
c.*2297G>C (n.*2297G>C)
3g.15644435G>TCA351606466BTDc.519G>T (p.Gln173His)
c.399+2378G>T (n.399+2378G>T)
c.165+2378G>T (n.165+2378G>T)
c.579G>T (p.Gln193His)
c.585G>T (p.Gln195His)
c.297G>T (p.Gln99His)
c.*2297G>T (n.*2297G>T)
3g.15644435_15644437delCA70621580BTDc.519_521del (p.Gln173_Phe174delinsHis)
c.399+2378_399+2380del (n.399+2378_399+2380del)
c.165+2378_165+2380del (n.165+2378_165+2380del)
c.579_581del (p.Gln193_Phe194delinsHis)
c.585_587del (p.Gln195_Phe196delinsHis)
c.297_299del (p.Gln99_Phe100delinsHis)
c.*2297_*2299del (n.*2297_*2299del)
 dbSNP
3g.15644436T>ACA351606470BTDc.520T>A (p.Phe174Ile)
c.399+2379T>A (n.399+2379T>A)
c.165+2379T>A (n.165+2379T>A)
c.580T>A (p.Phe194Ile)
c.586T>A (p.Phe196Ile)
c.298T>A (p.Phe100Ile)
c.*2298T>A (n.*2298T>A)
3g.15644436T>CCA351606471BTDc.520T>C (p.Phe174Leu)
c.399+2379T>C (n.399+2379T>C)
c.165+2379T>C (n.165+2379T>C)
c.580T>C (p.Phe194Leu)
c.586T>C (p.Phe196Leu)
c.298T>C (p.Phe100Leu)
c.*2298T>C (n.*2298T>C)
3g.15644436T>GCA351606473BTDc.520T>G (p.Phe174Val)
c.399+2379T>G (n.399+2379T>G)
c.165+2379T>G (n.165+2379T>G)
c.580T>G (p.Phe194Val)
c.586T>G (p.Phe196Val)
c.298T>G (p.Phe100Val)
c.*2298T>G (n.*2298T>G)
3g.15644437T>ACA351606478BTDc.521T>A (p.Phe174Tyr)
c.399+2380T>A (n.399+2380T>A)
c.165+2380T>A (n.165+2380T>A)
c.581T>A (p.Phe194Tyr)
c.587T>A (p.Phe196Tyr)
c.299T>A (p.Phe100Tyr)
c.*2299T>A (n.*2299T>A)
3g.15644437T>CCA351606475BTDc.521T>C (p.Phe174Ser)
c.399+2380T>C (n.399+2380T>C)
c.165+2380T>C (n.165+2380T>C)
c.581T>C (p.Phe194Ser)
c.587T>C (p.Phe196Ser)
c.299T>C (p.Phe100Ser)
c.*2299T>C (n.*2299T>C)
3g.15644437T>GCA351606477BTDc.521T>G (p.Phe174Cys)
c.399+2380T>G (n.399+2380T>G)
c.165+2380T>G (n.165+2380T>G)
c.581T>G (p.Phe194Cys)
c.587T>G (p.Phe196Cys)
c.299T>G (p.Phe100Cys)
c.*2299T>G (n.*2299T>G)
3g.15644438C>ACA351606480BTDc.522C>A (p.Phe174Leu)
c.399+2381C>A (n.399+2381C>A)
c.165+2381C>A (n.165+2381C>A)
c.582C>A (p.Phe194Leu)
c.588C>A (p.Phe196Leu)
c.300C>A (p.Phe100Leu)
c.*2300C>A (n.*2300C>A)
3g.15644438C=CA1347663647BTDc.522C= (p.Phe174=)
c.399+2381C= (n.399+2381C=)
c.165+2381C= (n.165+2381C=)
c.582C= (p.Phe194=)
c.588C= (p.Phe196=)
c.300C= (p.Phe100=)
c.*2300C= (n.*2300C=)
3g.15644438C>GCA351606482BTDc.522C>G (p.Phe174Leu)
c.399+2381C>G (n.399+2381C>G)
c.165+2381C>G (n.165+2381C>G)
c.582C>G (p.Phe194Leu)
c.588C>G (p.Phe196Leu)
c.300C>G (p.Phe100Leu)
c.*2300C>G (n.*2300C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644438C>TCA2277343BTDc.522C>T (p.Phe174=)
c.399+2381C>T (n.399+2381C>T)
c.165+2381C>T (n.165+2381C>T)
c.582C>T (p.Phe194=)
c.588C>T (p.Phe196=)
c.300C>T (p.Phe100=)
c.*2300C>T (n.*2300C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644439A=CA1347663655BTDc.523A= (p.Asn175=)
c.399+2382A= (n.399+2382A=)
c.165+2382A= (n.165+2382A=)
c.583A= (p.Asn195=)
c.589A= (p.Asn197=)
c.301A= (p.Asn101=)
c.*2301A= (n.*2301A=)
3g.15644439A>CCA351606486BTDc.523A>C (p.Asn175His)
c.399+2382A>C (n.399+2382A>C)
c.165+2382A>C (n.165+2382A>C)
c.583A>C (p.Asn195His)
c.589A>C (p.Asn197His)
c.301A>C (p.Asn101His)
c.*2301A>C (n.*2301A>C)
3g.15644439A>GCA278225BTDc.523A>G (p.Asn175Asp)
c.399+2382A>G (n.399+2382A>G)
c.165+2382A>G (n.165+2382A>G)
c.583A>G (p.Asn195Asp)
c.589A>G (p.Asn197Asp)
c.301A>G (p.Asn101Asp)
c.*2301A>G (n.*2301A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644439A>TCA351606488BTDc.523A>T (p.Asn175Tyr)
c.399+2382A>T (n.399+2382A>T)
c.165+2382A>T (n.165+2382A>T)
c.583A>T (p.Asn195Tyr)
c.589A>T (p.Asn197Tyr)
c.301A>T (p.Asn101Tyr)
c.*2301A>T (n.*2301A>T)
3g.15644440A=CA1347663658BTDc.524A= (p.Asn175=)
c.399+2383A= (n.399+2383A=)
c.165+2383A= (n.165+2383A=)
c.584A= (p.Asn195=)
c.590A= (p.Asn197=)
c.302A= (p.Asn101=)
c.*2302A= (n.*2302A=)
3g.15644440A>CCA351606490BTDc.524A>C (p.Asn175Thr)
c.399+2383A>C (n.399+2383A>C)
c.165+2383A>C (n.165+2383A>C)
c.584A>C (p.Asn195Thr)
c.590A>C (p.Asn197Thr)
c.302A>C (p.Asn101Thr)
c.*2302A>C (n.*2302A>C)
3g.15644440A>GCA278227BTDc.524A>G (p.Asn175Ser)
c.399+2383A>G (n.399+2383A>G)
c.165+2383A>G (n.165+2383A>G)
c.584A>G (p.Asn195Ser)
c.590A>G (p.Asn197Ser)
c.302A>G (p.Asn101Ser)
c.*2302A>G (n.*2302A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644440A>TCA351606492BTDc.524A>T (p.Asn175Ile)
c.399+2383A>T (n.399+2383A>T)
c.165+2383A>T (n.165+2383A>T)
c.584A>T (p.Asn195Ile)
c.590A>T (p.Asn197Ile)
c.302A>T (p.Asn101Ile)
c.*2302A>T (n.*2302A>T)
3g.15644441C>ACA351606494BTDc.525C>A (p.Asn175Lys)
c.399+2384C>A (n.399+2384C>A)
c.165+2384C>A (n.165+2384C>A)
c.585C>A (p.Asn195Lys)
c.591C>A (p.Asn197Lys)
c.303C>A (p.Asn101Lys)
c.*2303C>A (n.*2303C>A)
3g.15644441C>GCA351606495BTDc.525C>G (p.Asn175Lys)
c.399+2384C>G (n.399+2384C>G)
c.165+2384C>G (n.165+2384C>G)
c.585C>G (p.Asn195Lys)
c.591C>G (p.Asn197Lys)
c.303C>G (p.Asn101Lys)
c.*2303C>G (n.*2303C>G)
3g.15644441C>TCA432819227BTDc.525C>T (p.Asn175=)
c.399+2384C>T (n.399+2384C>T)
c.165+2384C>T (n.165+2384C>T)
c.585C>T (p.Asn195=)
c.591C>T (p.Asn197=)
c.303C>T (p.Asn101=)
c.*2303C>T (n.*2303C>T)
 ClinVar dbSNP gnomAD v4
3g.15644442A=CA1347663662BTDc.526A= (p.Thr176=)
c.399+2385A= (n.399+2385A=)
c.165+2385A= (n.165+2385A=)
c.586A= (p.Thr196=)
c.592A= (p.Thr198=)
c.304A= (p.Thr102=)
c.*2304A= (n.*2304A=)
3g.15644442A>CCA351606499BTDc.526A>C (p.Thr176Pro)
c.399+2385A>C (n.399+2385A>C)
c.165+2385A>C (n.165+2385A>C)
c.586A>C (p.Thr196Pro)
c.592A>C (p.Thr198Pro)
c.304A>C (p.Thr102Pro)
c.*2304A>C (n.*2304A>C)
3g.15644442A>GCA70621611BTDc.526A>G (p.Thr176Ala)
c.399+2385A>G (n.399+2385A>G)
c.165+2385A>G (n.165+2385A>G)
c.586A>G (p.Thr196Ala)
c.592A>G (p.Thr198Ala)
c.304A>G (p.Thr102Ala)
c.*2304A>G (n.*2304A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.15644442A>TCA351606497BTDc.526A>T (p.Thr176Ser)
c.399+2385A>T (n.399+2385A>T)
c.165+2385A>T (n.165+2385A>T)
c.586A>T (p.Thr196Ser)
c.592A>T (p.Thr198Ser)
c.304A>T (p.Thr102Ser)
c.*2304A>T (n.*2304A>T)
3g.15644442_15644443delinsACCA1347663663BTDc.526_527delinsAC (p.Thr176=)
c.399+2385_399+2386delinsAC (n.399+2385_399+2386delinsAC)
c.165+2385_165+2386delinsAC (n.165+2385_165+2386delinsAC)
c.586_587delinsAC (p.Thr196=)
c.592_593delinsAC (p.Thr198=)
c.304_305delinsAC (p.Thr102=)
c.*2304_*2305delinsAC (n.*2304_*2305delinsAC)
3g.15644443delCA658796245BTDc.527del (p.Thr176LysfsTer?)
c.399+2386del (n.399+2386del)
c.165+2386del (n.165+2386del)
c.587del (p.Thr196LysfsTer?)
c.593del (p.Thr198LysfsTer?)
c.305del (p.Thr102LysfsTer?)
c.*2305del (n.*2305del)
 ClinVar dbSNP
3g.15644443C>ACA351606502BTDc.527C>A (p.Thr176Lys)
c.399+2386C>A (n.399+2386C>A)
c.165+2386C>A (n.165+2386C>A)
c.587C>A (p.Thr196Lys)
c.593C>A (p.Thr198Lys)
c.305C>A (p.Thr102Lys)
c.*2305C>A (n.*2305C>A)
3g.15644443C=CA1347663672BTDc.527C= (p.Thr176=)
c.399+2386C= (n.399+2386C=)
c.165+2386C= (n.165+2386C=)
c.587C= (p.Thr196=)
c.593C= (p.Thr198=)
c.305C= (p.Thr102=)
c.*2305C= (n.*2305C=)
3g.15644443C>GCA278229BTDc.527C>G (p.Thr176Arg)
c.399+2386C>G (n.399+2386C>G)
c.165+2386C>G (n.165+2386C>G)
c.587C>G (p.Thr196Arg)
c.593C>G (p.Thr198Arg)
c.305C>G (p.Thr102Arg)
c.*2305C>G (n.*2305C>G)
 dbSNP gnomAD v4
3g.15644443C>TCA351606506BTDc.527C>T (p.Thr176Ile)
c.399+2386C>T (n.399+2386C>T)
c.165+2386C>T (n.165+2386C>T)
c.587C>T (p.Thr196Ile)
c.593C>T (p.Thr198Ile)
c.305C>T (p.Thr102Ile)
c.*2305C>T (n.*2305C>T)
3g.15644443_15644458delinsCAAATGTCGTGTTCAGCA1347663677BTDc.527_542delinsCAAATGTCGTGTTCAG (p.Thr176=)
c.399+2386_399+2401delinsCAAATGTCGTGTTCAG (n.399+2386_399+2401delinsCAAATGTCGTGTTCAG)
c.165+2386_165+2401delinsCAAATGTCGTGTTCAG (n.165+2386_165+2401delinsCAAATGTCGTGTTCAG)
c.587_602delinsCAAATGTCGTGTTCAG (p.Thr196=)
c.593_608delinsCAAATGTCGTGTTCAG (p.Thr198=)
c.305_320delinsCAAATGTCGTGTTCAG (p.Thr102=)
c.*2305_*2320delinsCAAATGTCGTGTTCAG (n.*2305_*2320delinsCAAATGTCGTGTTCAG)
3g.15644444A>CCA432819235BTDc.528A>C (p.Thr176=)
c.399+2387A>C (n.399+2387A>C)
c.165+2387A>C (n.165+2387A>C)
c.588A>C (p.Thr196=)
c.594A>C (p.Thr198=)
c.306A>C (p.Thr102=)
c.*2306A>C (n.*2306A>C)
3g.15644444A>GCA432819237BTDc.528A>G (p.Thr176=)
c.399+2387A>G (n.399+2387A>G)
c.165+2387A>G (n.165+2387A>G)
c.588A>G (p.Thr196=)
c.594A>G (p.Thr198=)
c.306A>G (p.Thr102=)
c.*2306A>G (n.*2306A>G)
 COSMIC
3g.15644444A>TCA432819238BTDc.528A>T (p.Thr176=)
c.399+2387A>T (n.399+2387A>T)
c.165+2387A>T (n.165+2387A>T)
c.588A>T (p.Thr196=)
c.594A>T (p.Thr198=)
c.306A>T (p.Thr102=)
c.*2306A>T (n.*2306A>T)
3g.15644444_15644458delCA915941880BTDc.528_542del (p.Asn177_Ser181del)
c.399+2387_399+2401del (n.399+2387_399+2401del)
c.165+2387_165+2401del (n.165+2387_165+2401del)
c.588_602del (p.Asn197_Ser201del)
c.594_608del (p.Asn199_Ser203del)
c.306_320del (p.Asn103_Ser107del)
c.*2306_*2320del (n.*2306_*2320del)
 ClinVar dbSNP
3g.15644445A=CA1347663687BTDc.529A= (p.Asn177=)
c.399+2388A= (n.399+2388A=)
c.165+2388A= (n.165+2388A=)
c.589A= (p.Asn197=)
c.595A= (p.Asn199=)
c.307A= (p.Asn103=)
c.*2307A= (n.*2307A=)
3g.15644445A>CCA351606508BTDc.529A>C (p.Asn177His)
c.399+2388A>C (n.399+2388A>C)
c.165+2388A>C (n.165+2388A>C)
c.589A>C (p.Asn197His)
c.595A>C (p.Asn199His)
c.307A>C (p.Asn103His)
c.*2307A>C (n.*2307A>C)
3g.15644445A>GCA2277344BTDc.529A>G (p.Asn177Asp)
c.399+2388A>G (n.399+2388A>G)
c.165+2388A>G (n.165+2388A>G)
c.589A>G (p.Asn197Asp)
c.595A>G (p.Asn199Asp)
c.307A>G (p.Asn103Asp)
c.*2307A>G (n.*2307A>G)
 dbSNP ExAC gnomAD v2
3g.15644445A>TCA351606511BTDc.529A>T (p.Asn177Tyr)
c.399+2388A>T (n.399+2388A>T)
c.165+2388A>T (n.165+2388A>T)
c.589A>T (p.Asn197Tyr)
c.595A>T (p.Asn199Tyr)
c.307A>T (p.Asn103Tyr)
c.*2307A>T (n.*2307A>T)
 dbSNP
3g.15644446A>CCA351606517BTDc.530A>C (p.Asn177Thr)
c.399+2389A>C (n.399+2389A>C)
c.165+2389A>C (n.165+2389A>C)
c.590A>C (p.Asn197Thr)
c.596A>C (p.Asn199Thr)
c.308A>C (p.Asn103Thr)
c.*2308A>C (n.*2308A>C)
3g.15644446A>GCA351606513BTDc.530A>G (p.Asn177Ser)
c.399+2389A>G (n.399+2389A>G)
c.165+2389A>G (n.165+2389A>G)
c.590A>G (p.Asn197Ser)
c.596A>G (p.Asn199Ser)
c.308A>G (p.Asn103Ser)
c.*2308A>G (n.*2308A>G)
3g.15644446A>TCA351606516BTDc.530A>T (p.Asn177Ile)
c.399+2389A>T (n.399+2389A>T)
c.165+2389A>T (n.165+2389A>T)
c.590A>T (p.Asn197Ile)
c.596A>T (p.Asn199Ile)
c.308A>T (p.Asn103Ile)
c.*2308A>T (n.*2308A>T)
3g.15644447T>ACA351606520BTDc.531T>A (p.Asn177Lys)
c.399+2390T>A (n.399+2390T>A)
c.165+2390T>A (n.165+2390T>A)
c.591T>A (p.Asn197Lys)
c.597T>A (p.Asn199Lys)
c.309T>A (p.Asn103Lys)
c.*2309T>A (n.*2309T>A)
3g.15644447T>CCA432819247BTDc.531T>C (p.Asn177=)
c.399+2390T>C (n.399+2390T>C)
c.165+2390T>C (n.165+2390T>C)
c.591T>C (p.Asn197=)
c.597T>C (p.Asn199=)
c.309T>C (p.Asn103=)
c.*2309T>C (n.*2309T>C)
3g.15644447T>GCA351606522BTDc.531T>G (p.Asn177Lys)
c.399+2390T>G (n.399+2390T>G)
c.165+2390T>G (n.165+2390T>G)
c.591T>G (p.Asn197Lys)
c.597T>G (p.Asn199Lys)
c.309T>G (p.Asn103Lys)
c.*2309T>G (n.*2309T>G)
3g.15644447_15644450delinsTGTCCA1347663689BTDc.531_534delinsTGTC (p.Asn177=)
c.399+2390_399+2393delinsTGTC (n.399+2390_399+2393delinsTGTC)
c.165+2390_165+2393delinsTGTC (n.165+2390_165+2393delinsTGTC)
c.591_594delinsTGTC (p.Asn197=)
c.597_600delinsTGTC (p.Asn199=)
c.309_312delinsTGTC (p.Asn103=)
c.*2309_*2312delinsTGTC (n.*2309_*2312delinsTGTC)
3g.15644448G>ACA2277345BTDc.532G>A (p.Val178Ile)
c.399+2391G>A (n.399+2391G>A)
c.165+2391G>A (n.165+2391G>A)
c.592G>A (p.Val198Ile)
c.598G>A (p.Val200Ile)
c.310G>A (p.Val104Ile)
c.*2310G>A (n.*2310G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644448G>CCA351606525BTDc.532G>C (p.Val178Leu)
c.399+2391G>C (n.399+2391G>C)
c.165+2391G>C (n.165+2391G>C)
c.592G>C (p.Val198Leu)
c.598G>C (p.Val200Leu)
c.310G>C (p.Val104Leu)
c.*2310G>C (n.*2310G>C)
3g.15644448G=CA1347663696BTDc.532G= (p.Val178=)
c.399+2391G= (n.399+2391G=)
c.165+2391G= (n.165+2391G=)
c.592G= (p.Val198=)
c.598G= (p.Val200=)
c.310G= (p.Val104=)
c.*2310G= (n.*2310G=)
3g.15644448G>TCA351606527BTDc.532G>T (p.Val178Phe)
c.399+2391G>T (n.399+2391G>T)
c.165+2391G>T (n.165+2391G>T)
c.592G>T (p.Val198Phe)
c.598G>T (p.Val200Phe)
c.310G>T (p.Val104Phe)
c.*2310G>T (n.*2310G>T)
 gnomAD v4
3g.15644450_15644452delCA278231BTDc.534_536del (p.Val179del)
c.399+2393_399+2395del (n.399+2393_399+2395del)
c.165+2393_165+2395del (n.165+2393_165+2395del)
c.594_596del (p.Val199del)
c.600_602del (p.Val201del)
c.312_314del (p.Val105del)
c.*2312_*2314del (n.*2312_*2314del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644449T>ACA351606530BTDc.533T>A (p.Val178Asp)
c.399+2392T>A (n.399+2392T>A)
c.165+2392T>A (n.165+2392T>A)
c.593T>A (p.Val198Asp)
c.599T>A (p.Val200Asp)
c.311T>A (p.Val104Asp)
c.*2311T>A (n.*2311T>A)
3g.15644449T>CCA351606533BTDc.533T>C (p.Val178Ala)
c.399+2392T>C (n.399+2392T>C)
c.165+2392T>C (n.165+2392T>C)
c.593T>C (p.Val198Ala)
c.599T>C (p.Val200Ala)
c.311T>C (p.Val104Ala)
c.*2311T>C (n.*2311T>C)
3g.15644449T>GCA351606531BTDc.533T>G (p.Val178Gly)
c.399+2392T>G (n.399+2392T>G)
c.165+2392T>G (n.165+2392T>G)
c.593T>G (p.Val198Gly)
c.599T>G (p.Val200Gly)
c.311T>G (p.Val104Gly)
c.*2311T>G (n.*2311T>G)
3g.15644449_15644450delinsTCCA1347663702BTDc.533_534delinsTC (p.Val178=)
c.399+2392_399+2393delinsTC (n.399+2392_399+2393delinsTC)
c.165+2392_165+2393delinsTC (n.165+2392_165+2393delinsTC)
c.593_594delinsTC (p.Val198=)
c.599_600delinsTC (p.Val200=)
c.311_312delinsTC (p.Val104=)
c.*2311_*2312delinsTC (n.*2311_*2312delinsTC)
3g.15644450delCA278234BTDc.534del (p.Val179CysfsTer?)
c.399+2393del (n.399+2393del)
c.165+2393del (n.165+2393del)
c.594del (p.Val199CysfsTer?)
c.600del (p.Val201CysfsTer?)
c.312del (p.Val105CysfsTer?)
c.*2312del (n.*2312del)
 dbSNP
3g.15644450C>ACA432819258BTDc.534C>A (p.Val178=)
c.399+2393C>A (n.399+2393C>A)
c.165+2393C>A (n.165+2393C>A)
c.594C>A (p.Val198=)
c.600C>A (p.Val200=)
c.312C>A (p.Val104=)
c.*2312C>A (n.*2312C>A)
3g.15644450C=CA1347663712BTDc.534C= (p.Val178=)
c.399+2393C= (n.399+2393C=)
c.165+2393C= (n.165+2393C=)
c.594C= (p.Val198=)
c.600C= (p.Val200=)
c.312C= (p.Val104=)
c.*2312C= (n.*2312C=)
3g.15644450C>GCA432819260BTDc.534C>G (p.Val178=)
c.399+2393C>G (n.399+2393C>G)
c.165+2393C>G (n.165+2393C>G)
c.594C>G (p.Val198=)
c.600C>G (p.Val200=)
c.312C>G (p.Val104=)
c.*2312C>G (n.*2312C>G)
 ClinVar dbSNP
3g.15644450C>TCA2277346BTDc.534C>T (p.Val178=)
c.399+2393C>T (n.399+2393C>T)
c.165+2393C>T (n.165+2393C>T)
c.594C>T (p.Val198=)
c.600C>T (p.Val200=)
c.312C>T (p.Val104=)
c.*2312C>T (n.*2312C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644451G>ACA278235BTDc.535G>A (p.Val179Met)
c.399+2394G>A (n.399+2394G>A)
c.165+2394G>A (n.165+2394G>A)
c.595G>A (p.Val199Met)
c.601G>A (p.Val201Met)
c.313G>A (p.Val105Met)
c.*2313G>A (n.*2313G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.15644451G>CCA351606538BTDc.535G>C (p.Val179Leu)
c.399+2394G>C (n.399+2394G>C)
c.165+2394G>C (n.165+2394G>C)
c.595G>C (p.Val199Leu)
c.601G>C (p.Val201Leu)
c.313G>C (p.Val105Leu)
c.*2313G>C (n.*2313G>C)
 dbSNP
3g.15644451G=CA1347663717BTDc.535G= (p.Val179=)
c.399+2394G= (n.399+2394G=)
c.165+2394G= (n.165+2394G=)
c.595G= (p.Val199=)
c.601G= (p.Val201=)
c.313G= (p.Val105=)
c.*2313G= (n.*2313G=)
3g.15644451G>TCA351606540BTDc.535G>T (p.Val179Leu)
c.399+2394G>T (n.399+2394G>T)
c.165+2394G>T (n.165+2394G>T)
c.595G>T (p.Val199Leu)
c.601G>T (p.Val201Leu)
c.313G>T (p.Val105Leu)
c.*2313G>T (n.*2313G>T)
 gnomAD v4
3g.15644452T>ACA351606543BTDc.536T>A (p.Val179Glu)
c.399+2395T>A (n.399+2395T>A)
c.165+2395T>A (n.165+2395T>A)
c.596T>A (p.Val199Glu)
c.602T>A (p.Val201Glu)
c.314T>A (p.Val105Glu)
c.*2314T>A (n.*2314T>A)
 gnomAD v4
3g.15644452T>CCA351606545BTDc.536T>C (p.Val179Ala)
c.399+2395T>C (n.399+2395T>C)
c.165+2395T>C (n.165+2395T>C)
c.596T>C (p.Val199Ala)
c.602T>C (p.Val201Ala)
c.314T>C (p.Val105Ala)
c.*2314T>C (n.*2314T>C)
3g.15644452T>GCA351606547BTDc.536T>G (p.Val179Gly)
c.399+2395T>G (n.399+2395T>G)
c.165+2395T>G (n.165+2395T>G)
c.596T>G (p.Val199Gly)
c.602T>G (p.Val201Gly)
c.314T>G (p.Val105Gly)
c.*2314T>G (n.*2314T>G)
3g.15644453G>ACA432819269BTDc.537G>A (p.Val179=)
c.399+2396G>A (n.399+2396G>A)
c.165+2396G>A (n.165+2396G>A)
c.597G>A (p.Val199=)
c.603G>A (p.Val201=)
c.315G>A (p.Val105=)
c.*2315G>A (n.*2315G>A)
 dbSNP
3g.15644453G>CCA432819270BTDc.537G>C (p.Val179=)
c.399+2396G>C (n.399+2396G>C)
c.165+2396G>C (n.165+2396G>C)
c.597G>C (p.Val199=)
c.603G>C (p.Val201=)
c.315G>C (p.Val105=)
c.*2315G>C (n.*2315G>C)
3g.15644453G=CA1347663718BTDc.537G= (p.Val179=)
c.399+2396G= (n.399+2396G=)
c.165+2396G= (n.165+2396G=)
c.597G= (p.Val199=)
c.603G= (p.Val201=)
c.315G= (p.Val105=)
c.*2315G= (n.*2315G=)
3g.15644453G>TCA432819272BTDc.537G>T (p.Val179=)
c.399+2396G>T (n.399+2396G>T)
c.165+2396G>T (n.165+2396G>T)
c.597G>T (p.Val199=)
c.603G>T (p.Val201=)
c.315G>T (p.Val105=)
c.*2315G>T (n.*2315G>T)
3g.15644454T>ACA351606549BTDc.538T>A (p.Phe180Ile)
c.399+2397T>A (n.399+2397T>A)
c.165+2397T>A (n.165+2397T>A)
c.598T>A (p.Phe200Ile)
c.604T>A (p.Phe202Ile)
c.316T>A (p.Phe106Ile)
c.*2316T>A (n.*2316T>A)
3g.15644454T>CCA351606550BTDc.538T>C (p.Phe180Leu)
c.399+2397T>C (n.399+2397T>C)
c.165+2397T>C (n.165+2397T>C)
c.598T>C (p.Phe200Leu)
c.604T>C (p.Phe202Leu)
c.316T>C (p.Phe106Leu)
c.*2316T>C (n.*2316T>C)
3g.15644454T>GCA351606552BTDc.538T>G (p.Phe180Val)
c.399+2397T>G (n.399+2397T>G)
c.165+2397T>G (n.165+2397T>G)
c.598T>G (p.Phe200Val)
c.604T>G (p.Phe202Val)
c.316T>G (p.Phe106Val)
c.*2316T>G (n.*2316T>G)
3g.15644455T>ACA351606556BTDc.539T>A (p.Phe180Tyr)
c.399+2398T>A (n.399+2398T>A)
c.165+2398T>A (n.165+2398T>A)
c.599T>A (p.Phe200Tyr)
c.605T>A (p.Phe202Tyr)
c.317T>A (p.Phe106Tyr)
c.*2317T>A (n.*2317T>A)
3g.15644455T>CCA351606558BTDc.539T>C (p.Phe180Ser)
c.399+2398T>C (n.399+2398T>C)
c.165+2398T>C (n.165+2398T>C)
c.599T>C (p.Phe200Ser)
c.605T>C (p.Phe202Ser)
c.317T>C (p.Phe106Ser)
c.*2317T>C (n.*2317T>C)
3g.15644455T>GCA351606554BTDc.539T>G (p.Phe180Cys)
c.399+2398T>G (n.399+2398T>G)
c.165+2398T>G (n.165+2398T>G)
c.599T>G (p.Phe200Cys)
c.605T>G (p.Phe202Cys)
c.317T>G (p.Phe106Cys)
c.*2317T>G (n.*2317T>G)
3g.15644456C>ACA351606562BTDc.540C>A (p.Phe180Leu)
c.399+2399C>A (n.399+2399C>A)
c.165+2399C>A (n.165+2399C>A)
c.600C>A (p.Phe200Leu)
c.606C>A (p.Phe202Leu)
c.318C>A (p.Phe106Leu)
c.*2318C>A (n.*2318C>A)
3g.15644456C=CA1347663719BTDc.540C= (p.Phe180=)
c.399+2399C= (n.399+2399C=)
c.165+2399C= (n.165+2399C=)
c.600C= (p.Phe200=)
c.606C= (p.Phe202=)
c.318C= (p.Phe106=)
c.*2318C= (n.*2318C=)
3g.15644456C>GCA351606560BTDc.540C>G (p.Phe180Leu)
c.399+2399C>G (n.399+2399C>G)
c.165+2399C>G (n.165+2399C>G)
c.600C>G (p.Phe200Leu)
c.606C>G (p.Phe202Leu)
c.318C>G (p.Phe106Leu)
c.*2318C>G (n.*2318C>G)
3g.15644456C>TCA432819277BTDc.540C>T (p.Phe180=)
c.399+2399C>T (n.399+2399C>T)
c.165+2399C>T (n.165+2399C>T)
c.600C>T (p.Phe200=)
c.606C>T (p.Phe202=)
c.318C>T (p.Phe106=)
c.*2318C>T (n.*2318C>T)
 dbSNP
3g.15644457A=CA1347663721BTDc.541A= (p.Ser181=)
c.399+2400A= (n.399+2400A=)
c.165+2400A= (n.165+2400A=)
c.601A= (p.Ser201=)
c.607A= (p.Ser203=)
c.319A= (p.Ser107=)
c.*2319A= (n.*2319A=)
3g.15644457A>CCA351606568BTDc.541A>C (p.Ser181Arg)
c.399+2400A>C (n.399+2400A>C)
c.165+2400A>C (n.165+2400A>C)
c.601A>C (p.Ser201Arg)
c.607A>C (p.Ser203Arg)
c.319A>C (p.Ser107Arg)
c.*2319A>C (n.*2319A>C)
3g.15644457A>GCA351606565BTDc.541A>G (p.Ser181Gly)
c.399+2400A>G (n.399+2400A>G)
c.165+2400A>G (n.165+2400A>G)
c.601A>G (p.Ser201Gly)
c.607A>G (p.Ser203Gly)
c.319A>G (p.Ser107Gly)
c.*2319A>G (n.*2319A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.15644457A>TCA351606566BTDc.541A>T (p.Ser181Cys)
c.399+2400A>T (n.399+2400A>T)
c.165+2400A>T (n.165+2400A>T)
c.601A>T (p.Ser201Cys)
c.607A>T (p.Ser203Cys)
c.319A>T (p.Ser107Cys)
c.*2319A>T (n.*2319A>T)
3g.15644458G>ACA351606571BTDc.542G>A (p.Ser181Asn)
c.399+2401G>A (n.399+2401G>A)
c.165+2401G>A (n.165+2401G>A)
c.602G>A (p.Ser201Asn)
c.608G>A (p.Ser203Asn)
c.320G>A (p.Ser107Asn)
c.*2320G>A (n.*2320G>A)
 dbSNP
3g.15644458G>CCA351606573BTDc.542G>C (p.Ser181Thr)
c.399+2401G>C (n.399+2401G>C)
c.165+2401G>C (n.165+2401G>C)
c.602G>C (p.Ser201Thr)
c.608G>C (p.Ser203Thr)
c.320G>C (p.Ser107Thr)
c.*2320G>C (n.*2320G>C)
3g.15644458G>TCA351606575BTDc.542G>T (p.Ser181Ile)
c.399+2401G>T (n.399+2401G>T)
c.165+2401G>T (n.165+2401G>T)
c.602G>T (p.Ser201Ile)
c.608G>T (p.Ser203Ile)
c.320G>T (p.Ser107Ile)
c.*2320G>T (n.*2320G>T)
3g.15644459C>ACA351606577BTDc.543C>A (p.Ser181Arg)
c.399+2402C>A (n.399+2402C>A)
c.165+2402C>A (n.165+2402C>A)
c.603C>A (p.Ser201Arg)
c.609C>A (p.Ser203Arg)
c.321C>A (p.Ser107Arg)
c.*2321C>A (n.*2321C>A)
3g.15644459C>GCA351606579BTDc.543C>G (p.Ser181Arg)
c.399+2402C>G (n.399+2402C>G)
c.165+2402C>G (n.165+2402C>G)
c.603C>G (p.Ser201Arg)
c.609C>G (p.Ser203Arg)
c.321C>G (p.Ser107Arg)
c.*2321C>G (n.*2321C>G)
3g.15644459C>TCA432819283BTDc.543C>T (p.Ser181=)
c.399+2402C>T (n.399+2402C>T)
c.165+2402C>T (n.165+2402C>T)
c.603C>T (p.Ser201=)
c.609C>T (p.Ser203=)
c.321C>T (p.Ser107=)
c.*2321C>T (n.*2321C>T)
3g.15644460A>CCA351606581BTDc.544A>C (p.Asn182His)
c.399+2403A>C (n.399+2403A>C)
c.165+2403A>C (n.165+2403A>C)
c.604A>C (p.Asn202His)
c.610A>C (p.Asn204His)
c.322A>C (p.Asn108His)
c.*2322A>C (n.*2322A>C)
3g.15644460A>GCA351606582BTDc.544A>G (p.Asn182Asp)
c.399+2403A>G (n.399+2403A>G)
c.165+2403A>G (n.165+2403A>G)
c.604A>G (p.Asn202Asp)
c.610A>G (p.Asn204Asp)
c.322A>G (p.Asn108Asp)
c.*2322A>G (n.*2322A>G)
3g.15644460A>TCA351606583BTDc.544A>T (p.Asn182Tyr)
c.399+2403A>T (n.399+2403A>T)
c.165+2403A>T (n.165+2403A>T)
c.604A>T (p.Asn202Tyr)
c.610A>T (p.Asn204Tyr)
c.322A>T (p.Asn108Tyr)
c.*2322A>T (n.*2322A>T)
3g.15644461A=CA1347663727BTDc.545A= (p.Asn182=)
c.399+2404A= (n.399+2404A=)
c.165+2404A= (n.165+2404A=)
c.605A= (p.Asn202=)
c.611A= (p.Asn204=)
c.323A= (p.Asn108=)
c.*2323A= (n.*2323A=)
3g.15644461A>CCA351606586BTDc.545A>C (p.Asn182Thr)
c.399+2404A>C (n.399+2404A>C)
c.165+2404A>C (n.165+2404A>C)
c.605A>C (p.Asn202Thr)
c.611A>C (p.Asn204Thr)
c.323A>C (p.Asn108Thr)
c.*2323A>C (n.*2323A>C)
 gnomAD v4
3g.15644461A>GCA2277347BTDc.545A>G (p.Asn182Ser)
c.399+2404A>G (n.399+2404A>G)
c.165+2404A>G (n.165+2404A>G)
c.605A>G (p.Asn202Ser)
c.611A>G (p.Asn204Ser)
c.323A>G (p.Asn108Ser)
c.*2323A>G (n.*2323A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644461A>TCA278237BTDc.545A>T (p.Asn182Ile)
c.399+2404A>T (n.399+2404A>T)
c.165+2404A>T (n.165+2404A>T)
c.605A>T (p.Asn202Ile)
c.611A>T (p.Asn204Ile)
c.323A>T (p.Asn108Ile)
c.*2323A>T (n.*2323A>T)
 ClinVar dbSNP
3g.15644462T>ACA2277348BTDc.546T>A (p.Asn182Lys)
c.399+2405T>A (n.399+2405T>A)
c.165+2405T>A (n.165+2405T>A)
c.606T>A (p.Asn202Lys)
c.612T>A (p.Asn204Lys)
c.324T>A (p.Asn108Lys)
c.*2324T>A (n.*2324T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644462T>CCA432819288BTDc.546T>C (p.Asn182=)
c.399+2405T>C (n.399+2405T>C)
c.165+2405T>C (n.165+2405T>C)
c.606T>C (p.Asn202=)
c.612T>C (p.Asn204=)
c.324T>C (p.Asn108=)
c.*2324T>C (n.*2324T>C)
3g.15644462T>GCA351606590BTDc.546T>G (p.Asn182Lys)
c.399+2405T>G (n.399+2405T>G)
c.165+2405T>G (n.165+2405T>G)
c.606T>G (p.Asn202Lys)
c.612T>G (p.Asn204Lys)
c.324T>G (p.Asn108Lys)
c.*2324T>G (n.*2324T>G)
3g.15644462T=CA1347663730BTDc.546T= (p.Asn182=)
c.399+2405T= (n.399+2405T=)
c.165+2405T= (n.165+2405T=)
c.606T= (p.Asn202=)
c.612T= (p.Asn204=)
c.324T= (p.Asn108=)
c.*2324T= (n.*2324T=)
3g.15644463A=CA1347663734BTDc.547A= (p.Asn183=)
c.399+2406A= (n.399+2406A=)
c.165+2406A= (n.165+2406A=)
c.607A= (p.Asn203=)
c.613A= (p.Asn205=)
c.325A= (p.Asn109=)
c.*2325A= (n.*2325A=)
3g.15644463A>CCA351606593BTDc.547A>C (p.Asn183His)
c.399+2406A>C (n.399+2406A>C)
c.165+2406A>C (n.165+2406A>C)
c.607A>C (p.Asn203His)
c.613A>C (p.Asn205His)
c.325A>C (p.Asn109His)
c.*2325A>C (n.*2325A>C)
 dbSNP gnomAD v3 gnomAD v4
3g.15644463A>GCA351606595BTDc.547A>G (p.Asn183Asp)
c.399+2406A>G (n.399+2406A>G)
c.165+2406A>G (n.165+2406A>G)
c.607A>G (p.Asn203Asp)
c.613A>G (p.Asn205Asp)
c.325A>G (p.Asn109Asp)
c.*2325A>G (n.*2325A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.15644463A>TCA351606597BTDc.547A>T (p.Asn183Tyr)
c.399+2406A>T (n.399+2406A>T)
c.165+2406A>T (n.165+2406A>T)
c.607A>T (p.Asn203Tyr)
c.613A>T (p.Asn205Tyr)
c.325A>T (p.Asn109Tyr)
c.*2325A>T (n.*2325A>T)
3g.15644464A=CA1347663739BTDc.548A= (p.Asn183=)
c.399+2407A= (n.399+2407A=)
c.165+2407A= (n.165+2407A=)
c.608A= (p.Asn203=)
c.614A= (p.Asn205=)
c.326A= (p.Asn109=)
c.*2326A= (n.*2326A=)
3g.15644464A>CCA351606599BTDc.548A>C (p.Asn183Thr)
c.399+2407A>C (n.399+2407A>C)
c.165+2407A>C (n.165+2407A>C)
c.608A>C (p.Asn203Thr)
c.614A>C (p.Asn205Thr)
c.326A>C (p.Asn109Thr)
c.*2326A>C (n.*2326A>C)
3g.15644464A>GCA351606601BTDc.548A>G (p.Asn183Ser)
c.399+2407A>G (n.399+2407A>G)
c.165+2407A>G (n.165+2407A>G)
c.608A>G (p.Asn203Ser)
c.614A>G (p.Asn205Ser)
c.326A>G (p.Asn109Ser)
c.*2326A>G (n.*2326A>G)
3g.15644464A>TCA351606603BTDc.548A>T (p.Asn183Ile)
c.399+2407A>T (n.399+2407A>T)
c.165+2407A>T (n.165+2407A>T)
c.608A>T (p.Asn203Ile)
c.614A>T (p.Asn205Ile)
c.326A>T (p.Asn109Ile)
c.*2326A>T (n.*2326A>T)
 dbSNP gnomAD v2 gnomAD v4
3g.15644465T>ACA351606604BTDc.549T>A (p.Asn183Lys)
c.399+2408T>A (n.399+2408T>A)
c.165+2408T>A (n.165+2408T>A)
c.609T>A (p.Asn203Lys)
c.615T>A (p.Asn205Lys)
c.327T>A (p.Asn109Lys)
c.*2327T>A (n.*2327T>A)
3g.15644465T>CCA432819299BTDc.549T>C (p.Asn183=)
c.399+2408T>C (n.399+2408T>C)
c.165+2408T>C (n.165+2408T>C)
c.609T>C (p.Asn203=)
c.615T>C (p.Asn205=)
c.327T>C (p.Asn109=)
c.*2327T>C (n.*2327T>C)
 gnomAD v4
3g.15644465T>GCA351606606BTDc.549T>G (p.Asn183Lys)
c.399+2408T>G (n.399+2408T>G)
c.165+2408T>G (n.165+2408T>G)
c.609T>G (p.Asn203Lys)
c.615T>G (p.Asn205Lys)
c.327T>G (p.Asn109Lys)
c.*2327T>G (n.*2327T>G)
3g.15644466G>ACA351606608BTDc.550G>A (p.Gly184Arg)
c.399+2409G>A (n.399+2409G>A)
c.165+2409G>A (n.165+2409G>A)
c.610G>A (p.Gly204Arg)
c.616G>A (p.Gly206Arg)
c.328G>A (p.Gly110Arg)
c.*2328G>A (n.*2328G>A)
 ClinVar gnomAD v4
3g.15644466G>CCA351606610BTDc.550G>C (p.Gly184Arg)
c.399+2409G>C (n.399+2409G>C)
c.165+2409G>C (n.165+2409G>C)
c.610G>C (p.Gly204Arg)
c.616G>C (p.Gly206Arg)
c.328G>C (p.Gly110Arg)
c.*2328G>C (n.*2328G>C)
3g.15644466G>TCA351606612BTDc.550G>T (p.Gly184Ter)
c.399+2409G>T (n.399+2409G>T)
c.165+2409G>T (n.165+2409G>T)
c.610G>T (p.Gly204Ter)
c.616G>T (p.Gly206Ter)
c.328G>T (p.Gly110Ter)
c.*2328G>T (n.*2328G>T)
3g.15644467G>ACA351606614BTDc.551G>A (p.Gly184Glu)
c.399+2410G>A (n.399+2410G>A)
c.165+2410G>A (n.165+2410G>A)
c.611G>A (p.Gly204Glu)
c.617G>A (p.Gly206Glu)
c.329G>A (p.Gly110Glu)
c.*2329G>A (n.*2329G>A)
 COSMIC
3g.15644467G>CCA351606616BTDc.551G>C (p.Gly184Ala)
c.399+2410G>C (n.399+2410G>C)
c.165+2410G>C (n.165+2410G>C)
c.611G>C (p.Gly204Ala)
c.617G>C (p.Gly206Ala)
c.329G>C (p.Gly110Ala)
c.*2329G>C (n.*2329G>C)
3g.15644467G>TCA351606617BTDc.551G>T (p.Gly184Val)
c.399+2410G>T (n.399+2410G>T)
c.165+2410G>T (n.165+2410G>T)
c.611G>T (p.Gly204Val)
c.617G>T (p.Gly206Val)
c.329G>T (p.Gly110Val)
c.*2329G>T (n.*2329G>T)
3g.15644468A=CA1347663743BTDc.552A= (p.Gly184=)
c.399+2411A= (n.399+2411A=)
c.165+2411A= (n.165+2411A=)
c.612A= (p.Gly204=)
c.618A= (p.Gly206=)
c.330A= (p.Gly110=)
c.*2330A= (n.*2330A=)
3g.15644468A>CCA432819304BTDc.552A>C (p.Gly184=)
c.399+2411A>C (n.399+2411A>C)
c.165+2411A>C (n.165+2411A>C)
c.612A>C (p.Gly204=)
c.618A>C (p.Gly206=)
c.330A>C (p.Gly110=)
c.*2330A>C (n.*2330A>C)
3g.15644468A>GCA432819305BTDc.552A>G (p.Gly184=)
c.399+2411A>G (n.399+2411A>G)
c.165+2411A>G (n.165+2411A>G)
c.612A>G (p.Gly204=)
c.618A>G (p.Gly206=)
c.330A>G (p.Gly110=)
c.*2330A>G (n.*2330A>G)
3g.15644468A>TCA2277349BTDc.552A>T (p.Gly184=)
c.399+2411A>T (n.399+2411A>T)
c.165+2411A>T (n.165+2411A>T)
c.612A>T (p.Gly204=)
c.618A>T (p.Gly206=)
c.330A>T (p.Gly110=)
c.*2330A>T (n.*2330A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644469A=CA1347663745BTDc.553A= (p.Thr185=)
c.399+2412A= (n.399+2412A=)
c.165+2412A= (n.165+2412A=)
c.613A= (p.Thr205=)
c.619A= (p.Thr207=)
c.331A= (p.Thr111=)
c.*2331A= (n.*2331A=)
3g.15644469A>CCA351606624BTDc.553A>C (p.Thr185Pro)
c.399+2412A>C (n.399+2412A>C)
c.165+2412A>C (n.165+2412A>C)
c.613A>C (p.Thr205Pro)
c.619A>C (p.Thr207Pro)
c.331A>C (p.Thr111Pro)
c.*2331A>C (n.*2331A>C)
 dbSNP
3g.15644469A>GCA351606621BTDc.553A>G (p.Thr185Ala)
c.399+2412A>G (n.399+2412A>G)
c.165+2412A>G (n.165+2412A>G)
c.613A>G (p.Thr205Ala)
c.619A>G (p.Thr207Ala)
c.331A>G (p.Thr111Ala)
c.*2331A>G (n.*2331A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.15644469A>TCA351606622BTDc.553A>T (p.Thr185Ser)
c.399+2412A>T (n.399+2412A>T)
c.165+2412A>T (n.165+2412A>T)
c.613A>T (p.Thr205Ser)
c.619A>T (p.Thr207Ser)
c.331A>T (p.Thr111Ser)
c.*2331A>T (n.*2331A>T)
3g.15644470C>ACA2277350BTDc.554C>A (p.Thr185Asn)
c.399+2413C>A (n.399+2413C>A)
c.165+2413C>A (n.165+2413C>A)
c.614C>A (p.Thr205Asn)
c.620C>A (p.Thr207Asn)
c.332C>A (p.Thr111Asn)
c.*2332C>A (n.*2332C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644470C=CA1347663747BTDc.554C= (p.Thr185=)
c.399+2413C= (n.399+2413C=)
c.165+2413C= (n.165+2413C=)
c.614C= (p.Thr205=)
c.620C= (p.Thr207=)
c.332C= (p.Thr111=)
c.*2332C= (n.*2332C=)
3g.15644470C>GCA351606627BTDc.554C>G (p.Thr185Ser)
c.399+2413C>G (n.399+2413C>G)
c.165+2413C>G (n.165+2413C>G)
c.614C>G (p.Thr205Ser)
c.620C>G (p.Thr207Ser)
c.332C>G (p.Thr111Ser)
c.*2332C>G (n.*2332C>G)
3g.15644470C>TCA351606629BTDc.554C>T (p.Thr185Ile)
c.399+2413C>T (n.399+2413C>T)
c.165+2413C>T (n.165+2413C>T)
c.614C>T (p.Thr205Ile)
c.620C>T (p.Thr207Ile)
c.332C>T (p.Thr111Ile)
c.*2332C>T (n.*2332C>T)
3g.15644471C>ACA432819313BTDc.555C>A (p.Thr185=)
c.399+2414C>A (n.399+2414C>A)
c.165+2414C>A (n.165+2414C>A)
c.615C>A (p.Thr205=)
c.621C>A (p.Thr207=)
c.333C>A (p.Thr111=)
c.*2333C>A (n.*2333C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644471C=CA1347663752BTDc.555C= (p.Thr185=)
c.399+2414C= (n.399+2414C=)
c.165+2414C= (n.165+2414C=)
c.615C= (p.Thr205=)
c.621C= (p.Thr207=)
c.333C= (p.Thr111=)
c.*2333C= (n.*2333C=)
3g.15644471C>GCA432819314BTDc.555C>G (p.Thr185=)
c.399+2414C>G (n.399+2414C>G)
c.165+2414C>G (n.165+2414C>G)
c.615C>G (p.Thr205=)
c.621C>G (p.Thr207=)
c.333C>G (p.Thr111=)
c.*2333C>G (n.*2333C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644471C>TCA432819315BTDc.555C>T (p.Thr185=)
c.399+2414C>T (n.399+2414C>T)
c.165+2414C>T (n.165+2414C>T)
c.615C>T (p.Thr205=)
c.621C>T (p.Thr207=)
c.333C>T (p.Thr111=)
c.*2333C>T (n.*2333C>T)
3g.15644472C>ACA351606634BTDc.556C>A (p.Leu186Ile)
c.399+2415C>A (n.399+2415C>A)
c.165+2415C>A (n.165+2415C>A)
c.616C>A (p.Leu206Ile)
c.622C>A (p.Leu208Ile)
c.334C>A (p.Leu112Ile)
c.*2334C>A (n.*2334C>A)
3g.15644472C>GCA351606632BTDc.556C>G (p.Leu186Val)
c.399+2415C>G (n.399+2415C>G)
c.165+2415C>G (n.165+2415C>G)
c.616C>G (p.Leu206Val)
c.622C>G (p.Leu208Val)
c.334C>G (p.Leu112Val)
c.*2334C>G (n.*2334C>G)
3g.15644472C>TCA351606631BTDc.556C>T (p.Leu186Phe)
c.399+2415C>T (n.399+2415C>T)
c.165+2415C>T (n.165+2415C>T)
c.616C>T (p.Leu206Phe)
c.622C>T (p.Leu208Phe)
c.334C>T (p.Leu112Phe)
c.*2334C>T (n.*2334C>T)
3g.15644472_15644475delCA913102312BTDc.556_559del (p.Val187ThrfsTer?)
c.399+2415_399+2418del (n.399+2415_399+2418del)
c.165+2415_165+2418del (n.165+2415_165+2418del)
c.616_619del (p.Val207ThrfsTer?)
c.622_625del (p.Val209ThrfsTer?)
c.334_337del (p.Val113ThrfsTer?)
c.*2334_*2337del (n.*2334_*2337del)
3g.15644472_15644475delinsCTTGCA1347663757BTDc.556_559delinsCTTG (p.Leu186=)
c.399+2415_399+2418delinsCTTG (n.399+2415_399+2418delinsCTTG)
c.165+2415_165+2418delinsCTTG (n.165+2415_165+2418delinsCTTG)
c.616_619delinsCTTG (p.Leu206=)
c.622_625delinsCTTG (p.Leu208=)
c.334_337delinsCTTG (p.Leu112=)
c.*2334_*2337delinsCTTG (n.*2334_*2337delinsCTTG)
3g.15644473T>ACA351606636BTDc.557T>A (p.Leu186His)
c.399+2416T>A (n.399+2416T>A)
c.165+2416T>A (n.165+2416T>A)
c.617T>A (p.Leu206His)
c.623T>A (p.Leu208His)
c.335T>A (p.Leu112His)
c.*2335T>A (n.*2335T>A)
3g.15644473T>CCA351606638BTDc.557T>C (p.Leu186Pro)
c.399+2416T>C (n.399+2416T>C)
c.165+2416T>C (n.165+2416T>C)
c.617T>C (p.Leu206Pro)
c.623T>C (p.Leu208Pro)
c.335T>C (p.Leu112Pro)
c.*2335T>C (n.*2335T>C)
3g.15644473T>GCA351606639BTDc.557T>G (p.Leu186Arg)
c.399+2416T>G (n.399+2416T>G)
c.165+2416T>G (n.165+2416T>G)
c.617T>G (p.Leu206Arg)
c.623T>G (p.Leu208Arg)
c.335T>G (p.Leu112Arg)
c.*2335T>G (n.*2335T>G)
 ClinVar
3g.15644476_15644478delCA658822115BTDc.560_562del (p.Val187del)
c.399+2419_399+2421del (n.399+2419_399+2421del)
c.165+2419_165+2421del (n.165+2419_165+2421del)
c.620_622del (p.Val207del)
c.626_628del (p.Val209del)
c.338_340del (p.Val113del)
c.*2338_*2340del (n.*2338_*2340del)
 ClinVar dbSNP
3g.15644474T>ACA432819320BTDc.558T>A (p.Leu186=)
c.399+2417T>A (n.399+2417T>A)
c.165+2417T>A (n.165+2417T>A)
c.618T>A (p.Leu206=)
c.624T>A (p.Leu208=)
c.336T>A (p.Leu112=)
c.*2336T>A (n.*2336T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.15644474T>CCA432819321BTDc.558T>C (p.Leu186=)
c.399+2417T>C (n.399+2417T>C)
c.165+2417T>C (n.165+2417T>C)
c.618T>C (p.Leu206=)
c.624T>C (p.Leu208=)
c.336T>C (p.Leu112=)
c.*2336T>C (n.*2336T>C)
3g.15644474T>GCA432819322BTDc.558T>G (p.Leu186=)
c.399+2417T>G (n.399+2417T>G)
c.165+2417T>G (n.165+2417T>G)
c.618T>G (p.Leu206=)
c.624T>G (p.Leu208=)
c.336T>G (p.Leu112=)
c.*2336T>G (n.*2336T>G)
3g.15644474T=CA1347663761BTDc.558T= (p.Leu186=)
c.399+2417T= (n.399+2417T=)
c.165+2417T= (n.165+2417T=)
c.618T= (p.Leu206=)
c.624T= (p.Leu208=)
c.336T= (p.Leu112=)
c.*2336T= (n.*2336T=)
3g.15644475G>ACA351606642BTDc.559G>A (p.Val187Ile)
c.399+2418G>A (n.399+2418G>A)
c.165+2418G>A (n.165+2418G>A)
c.619G>A (p.Val207Ile)
c.625G>A (p.Val209Ile)
c.337G>A (p.Val113Ile)
c.*2337G>A (n.*2337G>A)
 dbSNP
3g.15644475G>CCA351606643BTDc.559G>C (p.Val187Leu)
c.399+2418G>C (n.399+2418G>C)
c.165+2418G>C (n.165+2418G>C)
c.619G>C (p.Val207Leu)
c.625G>C (p.Val209Leu)
c.337G>C (p.Val113Leu)
c.*2337G>C (n.*2337G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.15644475G=CA1347663766BTDc.559G= (p.Val187=)
c.399+2418G= (n.399+2418G=)
c.165+2418G= (n.165+2418G=)
c.619G= (p.Val207=)
c.625G= (p.Val209=)
c.337G= (p.Val113=)
c.*2337G= (n.*2337G=)
3g.15644475G>TCA351606645BTDc.559G>T (p.Val187Phe)
c.399+2418G>T (n.399+2418G>T)
c.165+2418G>T (n.165+2418G>T)
c.619G>T (p.Val207Phe)
c.625G>T (p.Val209Phe)
c.337G>T (p.Val113Phe)
c.*2337G>T (n.*2337G>T)
3g.15644476T>ACA351606648BTDc.560T>A (p.Val187Asp)
c.399+2419T>A (n.399+2419T>A)
c.165+2419T>A (n.165+2419T>A)
c.620T>A (p.Val207Asp)
c.626T>A (p.Val209Asp)
c.338T>A (p.Val113Asp)
c.*2338T>A (n.*2338T>A)
3g.15644476T>CCA351606651BTDc.560T>C (p.Val187Ala)
c.399+2419T>C (n.399+2419T>C)
c.165+2419T>C (n.165+2419T>C)
c.620T>C (p.Val207Ala)
c.626T>C (p.Val209Ala)
c.338T>C (p.Val113Ala)
c.*2338T>C (n.*2338T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.15644476T>GCA351606649BTDc.560T>G (p.Val187Gly)
c.399+2419T>G (n.399+2419T>G)
c.165+2419T>G (n.165+2419T>G)
c.620T>G (p.Val207Gly)
c.626T>G (p.Val209Gly)
c.338T>G (p.Val113Gly)
c.*2338T>G (n.*2338T>G)
3g.15644476T=CA1347663769BTDc.560T= (p.Val187=)
c.399+2419T= (n.399+2419T=)
c.165+2419T= (n.165+2419T=)
c.620T= (p.Val207=)
c.626T= (p.Val209=)
c.338T= (p.Val113=)
c.*2338T= (n.*2338T=)
3g.15644477delCA2586971764BTDc.561del (p.Asp188ThrfsTer?)
c.399+2420del (n.399+2420del)
c.165+2420del (n.165+2420del)
c.621del (p.Asp208ThrfsTer?)
c.627del (p.Asp210ThrfsTer?)
c.339del (p.Asp114ThrfsTer?)
c.*2339del (n.*2339del)
3g.15644477T>ACA432819331BTDc.561T>A (p.Val187=)
c.399+2420T>A (n.399+2420T>A)
c.165+2420T>A (n.165+2420T>A)
c.621T>A (p.Val207=)
c.627T>A (p.Val209=)
c.339T>A (p.Val113=)
c.*2339T>A (n.*2339T>A)
3g.15644477T>CCA432819330BTDc.561T>C (p.Val187=)
c.399+2420T>C (n.399+2420T>C)
c.165+2420T>C (n.165+2420T>C)
c.621T>C (p.Val207=)
c.627T>C (p.Val209=)
c.339T>C (p.Val113=)
c.*2339T>C (n.*2339T>C)
3g.15644477T>GCA432819329BTDc.561T>G (p.Val187=)
c.399+2420T>G (n.399+2420T>G)
c.165+2420T>G (n.165+2420T>G)
c.621T>G (p.Val207=)
c.627T>G (p.Val209=)
c.339T>G (p.Val113=)
c.*2339T>G (n.*2339T>G)
3g.15644478G>ACA351606654BTDc.562G>A (p.Asp188Asn)
c.399+2421G>A (n.399+2421G>A)
c.165+2421G>A (n.165+2421G>A)
c.622G>A (p.Asp208Asn)
c.628G>A (p.Asp210Asn)
c.340G>A (p.Asp114Asn)
c.*2340G>A (n.*2340G>A)
3g.15644478G>CCA351606655BTDc.562G>C (p.Asp188His)
c.399+2421G>C (n.399+2421G>C)
c.165+2421G>C (n.165+2421G>C)
c.622G>C (p.Asp208His)
c.628G>C (p.Asp210His)
c.340G>C (p.Asp114His)
c.*2340G>C (n.*2340G>C)
3g.15644478G>TCA351606657BTDc.562G>T (p.Asp188Tyr)
c.399+2421G>T (n.399+2421G>T)
c.165+2421G>T (n.165+2421G>T)
c.622G>T (p.Asp208Tyr)
c.628G>T (p.Asp210Tyr)
c.340G>T (p.Asp114Tyr)
c.*2340G>T (n.*2340G>T)
3g.15644479A>CCA351606659BTDc.563A>C (p.Asp188Ala)
c.399+2422A>C (n.399+2422A>C)
c.165+2422A>C (n.165+2422A>C)
c.623A>C (p.Asp208Ala)
c.629A>C (p.Asp210Ala)
c.341A>C (p.Asp114Ala)
c.*2341A>C (n.*2341A>C)
3g.15644479A>GCA351606661BTDc.563A>G (p.Asp188Gly)
c.399+2422A>G (n.399+2422A>G)
c.165+2422A>G (n.165+2422A>G)
c.623A>G (p.Asp208Gly)
c.629A>G (p.Asp210Gly)
c.341A>G (p.Asp114Gly)
c.*2341A>G (n.*2341A>G)
3g.15644479A>TCA351606663BTDc.563A>T (p.Asp188Val)
c.399+2422A>T (n.399+2422A>T)
c.165+2422A>T (n.165+2422A>T)
c.623A>T (p.Asp208Val)
c.629A>T (p.Asp210Val)
c.341A>T (p.Asp114Val)
c.*2341A>T (n.*2341A>T)
3g.15644480C>ACA351606665BTDc.564C>A (p.Asp188Glu)
c.399+2423C>A (n.399+2423C>A)
c.165+2423C>A (n.165+2423C>A)
c.624C>A (p.Asp208Glu)
c.630C>A (p.Asp210Glu)
c.342C>A (p.Asp114Glu)
c.*2342C>A (n.*2342C>A)
3g.15644480C=CA1347663771BTDc.564C= (p.Asp188=)
c.399+2423C= (n.399+2423C=)
c.165+2423C= (n.165+2423C=)
c.624C= (p.Asp208=)
c.630C= (p.Asp210=)
c.342C= (p.Asp114=)
c.*2342C= (n.*2342C=)
3g.15644480C>GCA351606667BTDc.564C>G (p.Asp188Glu)
c.399+2423C>G (n.399+2423C>G)
c.165+2423C>G (n.165+2423C>G)
c.624C>G (p.Asp208Glu)
c.630C>G (p.Asp210Glu)
c.342C>G (p.Asp114Glu)
c.*2342C>G (n.*2342C>G)
3g.15644480C>TCA432819337BTDc.564C>T (p.Asp188=)
c.399+2423C>T (n.399+2423C>T)
c.165+2423C>T (n.165+2423C>T)
c.624C>T (p.Asp208=)
c.630C>T (p.Asp210=)
c.342C>T (p.Asp114=)
c.*2342C>T (n.*2342C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644481C>ACA351606669BTDc.565C>A (p.Arg189Ser)
c.399+2424C>A (n.399+2424C>A)
c.165+2424C>A (n.165+2424C>A)
c.625C>A (p.Arg209Ser)
c.631C>A (p.Arg211Ser)
c.343C>A (p.Arg115Ser)
c.*2343C>A (n.*2343C>A)
3g.15644481C=CA1347663778BTDc.565C= (p.Arg189=)
c.399+2424C= (n.399+2424C=)
c.165+2424C= (n.165+2424C=)
c.625C= (p.Arg209=)
c.631C= (p.Arg211=)
c.343C= (p.Arg115=)
c.*2343C= (n.*2343C=)
3g.15644481C>GCA351606671BTDc.565C>G (p.Arg189Gly)
c.399+2424C>G (n.399+2424C>G)
c.165+2424C>G (n.165+2424C>G)
c.625C>G (p.Arg209Gly)
c.631C>G (p.Arg211Gly)
c.343C>G (p.Arg115Gly)
c.*2343C>G (n.*2343C>G)
3g.15644481C>TCA2277351BTDc.565C>T (p.Arg189Cys)
c.399+2424C>T (n.399+2424C>T)
c.165+2424C>T (n.165+2424C>T)
c.625C>T (p.Arg209Cys)
c.631C>T (p.Arg211Cys)
c.343C>T (p.Arg115Cys)
c.*2343C>T (n.*2343C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.15644482G>ACA220329BTDc.566G>A (p.Arg189His)
c.399+2425G>A (n.399+2425G>A)
c.165+2425G>A (n.165+2425G>A)
c.626G>A (p.Arg209His)
c.632G>A (p.Arg211His)
c.344G>A (p.Arg115His)
c.*2344G>A (n.*2344G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644482G>CCA351606676BTDc.566G>C (p.Arg189Pro)
c.399+2425G>C (n.399+2425G>C)
c.165+2425G>C (n.165+2425G>C)
c.626G>C (p.Arg209Pro)
c.632G>C (p.Arg211Pro)
c.344G>C (p.Arg115Pro)
c.*2344G>C (n.*2344G>C)
3g.15644482G=CA1347663787BTDc.566G= (p.Arg189=)
c.399+2425G= (n.399+2425G=)
c.165+2425G= (n.165+2425G=)
c.626G= (p.Arg209=)
c.632G= (p.Arg211=)
c.344G= (p.Arg115=)
c.*2344G= (n.*2344G=)
3g.15644482G>TCA351606675BTDc.566G>T (p.Arg189Leu)
c.399+2425G>T (n.399+2425G>T)
c.165+2425G>T (n.165+2425G>T)
c.626G>T (p.Arg209Leu)
c.632G>T (p.Arg211Leu)
c.344G>T (p.Arg115Leu)
c.*2344G>T (n.*2344G>T)
3g.15644483C>ACA432819339BTDc.567C>A (p.Arg189=)
c.399+2426C>A (n.399+2426C>A)
c.165+2426C>A (n.165+2426C>A)
c.627C>A (p.Arg209=)
c.633C>A (p.Arg211=)
c.345C>A (p.Arg115=)
c.*2345C>A (n.*2345C>A)
3g.15644483C>GCA432819341BTDc.567C>G (p.Arg189=)
c.399+2426C>G (n.399+2426C>G)
c.165+2426C>G (n.165+2426C>G)
c.627C>G (p.Arg209=)
c.633C>G (p.Arg211=)
c.345C>G (p.Arg115=)
c.*2345C>G (n.*2345C>G)
3g.15644483C>TCA432819340BTDc.567C>T (p.Arg189=)
c.399+2426C>T (n.399+2426C>T)
c.165+2426C>T (n.165+2426C>T)
c.627C>T (p.Arg209=)
c.633C>T (p.Arg211=)
c.345C>T (p.Arg115=)
c.*2345C>T (n.*2345C>T)
3g.15644484T>ACA351606679BTDc.568T>A (p.Tyr190Asn)
c.399+2427T>A (n.399+2427T>A)
c.165+2427T>A (n.165+2427T>A)
c.628T>A (p.Tyr210Asn)
c.634T>A (p.Tyr212Asn)
c.346T>A (p.Tyr116Asn)
c.*2346T>A (n.*2346T>A)
3g.15644484T>CCA351606681BTDc.568T>C (p.Tyr190His)
c.399+2427T>C (n.399+2427T>C)
c.165+2427T>C (n.165+2427T>C)
c.628T>C (p.Tyr210His)
c.634T>C (p.Tyr212His)
c.346T>C (p.Tyr116His)
c.*2346T>C (n.*2346T>C)
3g.15644484T>GCA351606683BTDc.568T>G (p.Tyr190Asp)
c.399+2427T>G (n.399+2427T>G)
c.165+2427T>G (n.165+2427T>G)
c.628T>G (p.Tyr210Asp)
c.634T>G (p.Tyr212Asp)
c.346T>G (p.Tyr116Asp)
c.*2346T>G (n.*2346T>G)
3g.15644485A=CA1347663799BTDc.569A= (p.Tyr190=)
c.399+2428A= (n.399+2428A=)
c.165+2428A= (n.165+2428A=)
c.629A= (p.Tyr210=)
c.635A= (p.Tyr212=)
c.347A= (p.Tyr116=)
c.*2347A= (n.*2347A=)
3g.15644485A>CCA351606686BTDc.569A>C (p.Tyr190Ser)
c.399+2428A>C (n.399+2428A>C)
c.165+2428A>C (n.165+2428A>C)
c.629A>C (p.Tyr210Ser)
c.635A>C (p.Tyr212Ser)
c.347A>C (p.Tyr116Ser)
c.*2347A>C (n.*2347A>C)
3g.15644485A>GCA278239BTDc.569A>G (p.Tyr190Cys)
c.399+2428A>G (n.399+2428A>G)
c.165+2428A>G (n.165+2428A>G)
c.629A>G (p.Tyr210Cys)
c.635A>G (p.Tyr212Cys)
c.347A>G (p.Tyr116Cys)
c.*2347A>G (n.*2347A>G)
 ClinVar dbSNP gnomAD v4
3g.15644485A>TCA351606688BTDc.569A>T (p.Tyr190Phe)
c.399+2428A>T (n.399+2428A>T)
c.165+2428A>T (n.165+2428A>T)
c.629A>T (p.Tyr210Phe)
c.635A>T (p.Tyr212Phe)
c.347A>T (p.Tyr116Phe)
c.*2347A>T (n.*2347A>T)
3g.15644485_15644486delinsACCA1347663796BTDc.569_570delinsAC (p.Tyr190=)
c.399+2428_399+2429delinsAC (n.399+2428_399+2429delinsAC)
c.165+2428_165+2429delinsAC (n.165+2428_165+2429delinsAC)
c.629_630delinsAC (p.Tyr210=)
c.635_636delinsAC (p.Tyr212=)
c.347_348delinsAC (p.Tyr116=)
c.*2347_*2348delinsAC (n.*2347_*2348delinsAC)
3g.15644486C>ACA70621682BTDc.570C>A (p.Tyr190Ter)
c.399+2429C>A (n.399+2429C>A)
c.165+2429C>A (n.165+2429C>A)
c.630C>A (p.Tyr210Ter)
c.636C>A (p.Tyr212Ter)
c.348C>A (p.Tyr116Ter)
c.*2348C>A (n.*2348C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.15644486C=CA1347663806BTDc.570C= (p.Tyr190=)
c.399+2429C= (n.399+2429C=)
c.165+2429C= (n.165+2429C=)
c.630C= (p.Tyr210=)
c.636C= (p.Tyr212=)
c.348C= (p.Tyr116=)
c.*2348C= (n.*2348C=)
3g.15644486C>GCA351606691BTDc.570C>G (p.Tyr190Ter)
c.399+2429C>G (n.399+2429C>G)
c.165+2429C>G (n.165+2429C>G)
c.630C>G (p.Tyr210Ter)
c.636C>G (p.Tyr212Ter)
c.348C>G (p.Tyr116Ter)
c.*2348C>G (n.*2348C>G)
3g.15644486C>TCA432819343BTDc.570C>T (p.Tyr190=)
c.399+2429C>T (n.399+2429C>T)
c.165+2429C>T (n.165+2429C>T)
c.630C>T (p.Tyr210=)
c.636C>T (p.Tyr212=)
c.348C>T (p.Tyr116=)
c.*2348C>T (n.*2348C>T)
3g.15644487delCA658761152BTDc.571del (p.Arg191ValfsTer?)
c.399+2430del (n.399+2430del)
c.165+2430del (n.165+2430del)
c.631del (p.Arg211ValfsTer?)
c.637del (p.Arg213ValfsTer?)
c.349del (p.Arg117ValfsTer?)
c.*2349del (n.*2349del)
3g.15644487C>ACA351606694BTDc.571C>A (p.Arg191Ser)
c.399+2430C>A (n.399+2430C>A)
c.165+2430C>A (n.165+2430C>A)
c.631C>A (p.Arg211Ser)
c.637C>A (p.Arg213Ser)
c.349C>A (p.Arg117Ser)
c.*2349C>A (n.*2349C>A)
3g.15644487C=CA1347663810BTDc.571C= (p.Arg191=)
c.399+2430C= (n.399+2430C=)
c.165+2430C= (n.165+2430C=)
c.631C= (p.Arg211=)
c.637C= (p.Arg213=)
c.349C= (p.Arg117=)
c.*2349C= (n.*2349C=)
3g.15644487C>GCA351606696BTDc.571C>G (p.Arg191Gly)
c.399+2430C>G (n.399+2430C>G)
c.165+2430C>G (n.165+2430C>G)
c.631C>G (p.Arg211Gly)
c.637C>G (p.Arg213Gly)
c.349C>G (p.Arg117Gly)
c.*2349C>G (n.*2349C>G)
3g.15644487C>TCA278241BTDc.571C>T (p.Arg191Cys)
c.399+2430C>T (n.399+2430C>T)
c.165+2430C>T (n.165+2430C>T)
c.631C>T (p.Arg211Cys)
c.637C>T (p.Arg213Cys)
c.349C>T (p.Arg117Cys)
c.*2349C>T (n.*2349C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644488G>ACA220331BTDc.572G>A (p.Arg191His)
c.399+2431G>A (n.399+2431G>A)
c.165+2431G>A (n.165+2431G>A)
c.632G>A (p.Arg211His)
c.638G>A (p.Arg213His)
c.350G>A (p.Arg117His)
c.*2350G>A (n.*2350G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644488G>CCA351606699BTDc.572G>C (p.Arg191Pro)
c.399+2431G>C (n.399+2431G>C)
c.165+2431G>C (n.165+2431G>C)
c.632G>C (p.Arg211Pro)
c.638G>C (p.Arg213Pro)
c.350G>C (p.Arg117Pro)
c.*2350G>C (n.*2350G>C)
3g.15644488G=CA1347663817BTDc.572G= (p.Arg191=)
c.399+2431G= (n.399+2431G=)
c.165+2431G= (n.165+2431G=)
c.632G= (p.Arg211=)
c.638G= (p.Arg213=)
c.350G= (p.Arg117=)
c.*2350G= (n.*2350G=)
3g.15644488G>TCA351606701BTDc.572G>T (p.Arg191Leu)
c.399+2431G>T (n.399+2431G>T)
c.165+2431G>T (n.165+2431G>T)
c.632G>T (p.Arg211Leu)
c.638G>T (p.Arg213Leu)
c.350G>T (p.Arg117Leu)
c.*2350G>T (n.*2350G>T)
3g.15644489T>ACA432819344BTDc.573T>A (p.Arg191=)
c.399+2432T>A (n.399+2432T>A)
c.165+2432T>A (n.165+2432T>A)
c.633T>A (p.Arg211=)
c.639T>A (p.Arg213=)
c.351T>A (p.Arg117=)
c.*2351T>A (n.*2351T>A)
3g.15644489T>CCA432819346BTDc.573T>C (p.Arg191=)
c.399+2432T>C (n.399+2432T>C)
c.165+2432T>C (n.165+2432T>C)
c.633T>C (p.Arg211=)
c.639T>C (p.Arg213=)
c.351T>C (p.Arg117=)
c.*2351T>C (n.*2351T>C)
3g.15644489T>GCA432819345BTDc.573T>G (p.Arg191=)
c.399+2432T>G (n.399+2432T>G)
c.165+2432T>G (n.165+2432T>G)
c.633T>G (p.Arg211=)
c.639T>G (p.Arg213=)
c.351T>G (p.Arg117=)
c.*2351T>G (n.*2351T>G)
3g.15644490A>CCA351606708BTDc.574A>C (p.Lys192Gln)
c.399+2433A>C (n.399+2433A>C)
c.165+2433A>C (n.165+2433A>C)
c.634A>C (p.Lys212Gln)
c.640A>C (p.Lys214Gln)
c.352A>C (p.Lys118Gln)
c.*2352A>C (n.*2352A>C)
3g.15644490A>GCA351606706BTDc.574A>G (p.Lys192Glu)
c.399+2433A>G (n.399+2433A>G)
c.165+2433A>G (n.165+2433A>G)
c.634A>G (p.Lys212Glu)
c.640A>G (p.Lys214Glu)
c.352A>G (p.Lys118Glu)
c.*2352A>G (n.*2352A>G)
3g.15644490A>TCA351606704BTDc.574A>T (p.Lys192Ter)
c.399+2433A>T (n.399+2433A>T)
c.165+2433A>T (n.165+2433A>T)
c.634A>T (p.Lys212Ter)
c.640A>T (p.Lys214Ter)
c.352A>T (p.Lys118Ter)
c.*2352A>T (n.*2352A>T)
3g.15644491A>CCA351606710BTDc.575A>C (p.Lys192Thr)
c.399+2434A>C (n.399+2434A>C)
c.165+2434A>C (n.165+2434A>C)
c.635A>C (p.Lys212Thr)
c.641A>C (p.Lys214Thr)
c.353A>C (p.Lys118Thr)
c.*2353A>C (n.*2353A>C)
3g.15644491A>GCA351606712BTDc.575A>G (p.Lys192Arg)
c.399+2434A>G (n.399+2434A>G)
c.165+2434A>G (n.165+2434A>G)
c.635A>G (p.Lys212Arg)
c.641A>G (p.Lys214Arg)
c.353A>G (p.Lys118Arg)
c.*2353A>G (n.*2353A>G)
3g.15644491A>TCA351606713BTDc.575A>T (p.Lys192Ile)
c.399+2434A>T (n.399+2434A>T)
c.165+2434A>T (n.165+2434A>T)
c.635A>T (p.Lys212Ile)
c.641A>T (p.Lys214Ile)
c.353A>T (p.Lys118Ile)
c.*2353A>T (n.*2353A>T)
3g.15644492A>CCA351606716BTDc.576A>C (p.Lys192Asn)
c.399+2435A>C (n.399+2435A>C)
c.165+2435A>C (n.165+2435A>C)
c.636A>C (p.Lys212Asn)
c.642A>C (p.Lys214Asn)
c.354A>C (p.Lys118Asn)
c.*2354A>C (n.*2354A>C)
3g.15644492A>GCA432819348BTDc.576A>G (p.Lys192=)
c.399+2435A>G (n.399+2435A>G)
c.165+2435A>G (n.165+2435A>G)
c.636A>G (p.Lys212=)
c.642A>G (p.Lys214=)
c.354A>G (p.Lys118=)
c.*2354A>G (n.*2354A>G)
3g.15644492A>TCA351606718BTDc.576A>T (p.Lys192Asn)
c.399+2435A>T (n.399+2435A>T)
c.165+2435A>T (n.165+2435A>T)
c.636A>T (p.Lys212Asn)
c.642A>T (p.Lys214Asn)
c.354A>T (p.Lys118Asn)
c.*2354A>T (n.*2354A>T)
3g.15644492_15644493delinsACCA1347663825BTDc.576_577delinsAC (p.Lys192=)
c.399+2435_399+2436delinsAC (n.399+2435_399+2436delinsAC)
c.165+2435_165+2436delinsAC (n.165+2435_165+2436delinsAC)
c.636_637delinsAC (p.Lys212=)
c.642_643delinsAC (p.Lys214=)
c.354_355delinsAC (p.Lys118=)
c.*2354_*2355delinsAC (n.*2354_*2355delinsAC)
3g.15644493delCA2277352BTDc.577del (p.His193ThrfsTer?)
c.399+2436del (n.399+2436del)
c.165+2436del (n.165+2436del)
c.637del (p.His213ThrfsTer?)
c.643del (p.His215ThrfsTer?)
c.355del (p.His119ThrfsTer?)
c.*2355del (n.*2355del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644493C>ACA351606719BTDc.577C>A (p.His193Asn)
c.399+2436C>A (n.399+2436C>A)
c.165+2436C>A (n.165+2436C>A)
c.637C>A (p.His213Asn)
c.643C>A (p.His215Asn)
c.355C>A (p.His119Asn)
c.*2355C>A (n.*2355C>A)
3g.15644493C>GCA351606721BTDc.577C>G (p.His193Asp)
c.399+2436C>G (n.399+2436C>G)
c.165+2436C>G (n.165+2436C>G)
c.637C>G (p.His213Asp)
c.643C>G (p.His215Asp)
c.355C>G (p.His119Asp)
c.*2355C>G (n.*2355C>G)
3g.15644493C>TCA351606723BTDc.577C>T (p.His193Tyr)
c.399+2436C>T (n.399+2436C>T)
c.165+2436C>T (n.165+2436C>T)
c.637C>T (p.His213Tyr)
c.643C>T (p.His215Tyr)
c.355C>T (p.His119Tyr)
c.*2355C>T (n.*2355C>T)
3g.15644494A=CA1347663834BTDc.578A= (p.His193=)
c.399+2437A= (n.399+2437A=)
c.165+2437A= (n.165+2437A=)
c.638A= (p.His213=)
c.644A= (p.His215=)
c.356A= (p.His119=)
c.*2356A= (n.*2356A=)
3g.15644494A>CCA351606726BTDc.578A>C (p.His193Pro)
c.399+2437A>C (n.399+2437A>C)
c.165+2437A>C (n.165+2437A>C)
c.638A>C (p.His213Pro)
c.644A>C (p.His215Pro)
c.356A>C (p.His119Pro)
c.*2356A>C (n.*2356A>C)
3g.15644494A>GCA2277353BTDc.578A>G (p.His193Arg)
c.399+2437A>G (n.399+2437A>G)
c.165+2437A>G (n.165+2437A>G)
c.638A>G (p.His213Arg)
c.644A>G (p.His215Arg)
c.356A>G (p.His119Arg)
c.*2356A>G (n.*2356A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644494A>TCA351606728BTDc.578A>T (p.His193Leu)
c.399+2437A>T (n.399+2437A>T)
c.165+2437A>T (n.165+2437A>T)
c.638A>T (p.His213Leu)
c.644A>T (p.His215Leu)
c.356A>T (p.His119Leu)
c.*2356A>T (n.*2356A>T)
3g.15644495C>ACA351606730BTDc.579C>A (p.His193Gln)
c.399+2438C>A (n.399+2438C>A)
c.165+2438C>A (n.165+2438C>A)
c.639C>A (p.His213Gln)
c.645C>A (p.His215Gln)
c.357C>A (p.His119Gln)
c.*2357C>A (n.*2357C>A)
3g.15644495C=CA1347663838BTDc.579C= (p.His193=)
c.399+2438C= (n.399+2438C=)
c.165+2438C= (n.165+2438C=)
c.639C= (p.His213=)
c.645C= (p.His215=)
c.357C= (p.His119=)
c.*2357C= (n.*2357C=)
3g.15644495C>GCA351606732BTDc.579C>G (p.His193Gln)
c.399+2438C>G (n.399+2438C>G)
c.165+2438C>G (n.165+2438C>G)
c.639C>G (p.His213Gln)
c.645C>G (p.His215Gln)
c.357C>G (p.His119Gln)
c.*2357C>G (n.*2357C>G)
3g.15644495C>TCA70621735BTDc.579C>T (p.His193=)
c.399+2438C>T (n.399+2438C>T)
c.165+2438C>T (n.165+2438C>T)
c.639C>T (p.His213=)
c.645C>T (p.His215=)
c.357C>T (p.His119=)
c.*2357C>T (n.*2357C>T)
 dbSNP
3g.15644496A>CCA351606735BTDc.580A>C (p.Asn194His)
c.399+2439A>C (n.399+2439A>C)
c.165+2439A>C (n.165+2439A>C)
c.640A>C (p.Asn214His)
c.646A>C (p.Asn216His)
c.358A>C (p.Asn120His)
c.*2358A>C (n.*2358A>C)
3g.15644496A>GCA351606736BTDc.580A>G (p.Asn194Asp)
c.399+2439A>G (n.399+2439A>G)
c.165+2439A>G (n.165+2439A>G)
c.640A>G (p.Asn214Asp)
c.646A>G (p.Asn216Asp)
c.358A>G (p.Asn120Asp)
c.*2358A>G (n.*2358A>G)
 gnomAD v4
3g.15644496A>TCA351606734BTDc.580A>T (p.Asn194Tyr)
c.399+2439A>T (n.399+2439A>T)
c.165+2439A>T (n.165+2439A>T)
c.640A>T (p.Asn214Tyr)
c.646A>T (p.Asn216Tyr)
c.358A>T (p.Asn120Tyr)
c.*2358A>T (n.*2358A>T)
3g.15644497A=CA1347663844BTDc.581A= (p.Asn194=)
c.399+2440A= (n.399+2440A=)
c.165+2440A= (n.165+2440A=)
c.641A= (p.Asn214=)
c.647A= (p.Asn216=)
c.359A= (p.Asn120=)
c.*2359A= (n.*2359A=)
3g.15644497A>CCA351606737BTDc.581A>C (p.Asn194Thr)
c.399+2440A>C (n.399+2440A>C)
c.165+2440A>C (n.165+2440A>C)
c.641A>C (p.Asn214Thr)
c.647A>C (p.Asn216Thr)
c.359A>C (p.Asn120Thr)
c.*2359A>C (n.*2359A>C)
3g.15644497A>GCA278395BTDc.581A>G (p.Asn194Ser)
c.399+2440A>G (n.399+2440A>G)
c.165+2440A>G (n.165+2440A>G)
c.641A>G (p.Asn214Ser)
c.647A>G (p.Asn216Ser)
c.359A>G (p.Asn120Ser)
c.*2359A>G (n.*2359A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.[15644497A>G;15645186G>C]CA357866BTDc.[581A>G;1270G>C] (p.[Asn194Ser;Asp424His])
c.[399+2440A>G;399+3129G>C] (n.[399+2440A>G;399+3129G>C])
c.[581A>G;1015+255G>C] (p.Asn194Ser)
c.[165+2440A>G;165+3129G>C] (n.[165+2440A>G;165+3129G>C])
c.[641A>G;1330G>C] (p.[Asn214Ser;Asp444His])
c.[647A>G;1336G>C] (p.[Asn216Ser;Asp446His])
c.[359A>G;793+255G>C] (p.Asn120Ser)
c.[*2359A>G;*3048G>C] (n.[*2359A>G;*3048G>C])
3g.15644497A>TCA351606738BTDc.581A>T (p.Asn194Ile)
c.399+2440A>T (n.399+2440A>T)
c.165+2440A>T (n.165+2440A>T)
c.641A>T (p.Asn214Ile)
c.647A>T (p.Asn216Ile)
c.359A>T (p.Asn120Ile)
c.*2359A>T (n.*2359A>T)
3g.15644498C>ACA351606739BTDc.582C>A (p.Asn194Lys)
c.399+2441C>A (n.399+2441C>A)
c.165+2441C>A (n.165+2441C>A)
c.642C>A (p.Asn214Lys)
c.648C>A (p.Asn216Lys)
c.360C>A (p.Asn120Lys)
c.*2360C>A (n.*2360C>A)
3g.15644498C>GCA351606740BTDc.582C>G (p.Asn194Lys)
c.399+2441C>G (n.399+2441C>G)
c.165+2441C>G (n.165+2441C>G)
c.642C>G (p.Asn214Lys)
c.648C>G (p.Asn216Lys)
c.360C>G (p.Asn120Lys)
c.*2360C>G (n.*2360C>G)
3g.15644498C>TCA432819353BTDc.582C>T (p.Asn194=)
c.399+2441C>T (n.399+2441C>T)
c.165+2441C>T (n.165+2441C>T)
c.642C>T (p.Asn214=)
c.648C>T (p.Asn216=)
c.360C>T (p.Asn120=)
c.*2360C>T (n.*2360C>T)
3g.15644499C>ACA351606741BTDc.583C>A (p.Leu195Ile)
c.399+2442C>A (n.399+2442C>A)
c.165+2442C>A (n.165+2442C>A)
c.643C>A (p.Leu215Ile)
c.649C>A (p.Leu217Ile)
c.361C>A (p.Leu121Ile)
c.*2361C>A (n.*2361C>A)
3g.15644499C=CA1347663853BTDc.583C= (p.Leu195=)
c.399+2442C= (n.399+2442C=)
c.165+2442C= (n.165+2442C=)
c.643C= (p.Leu215=)
c.649C= (p.Leu217=)
c.361C= (p.Leu121=)
c.*2361C= (n.*2361C=)
3g.15644499C>GCA2277354BTDc.583C>G (p.Leu195Val)
c.399+2442C>G (n.399+2442C>G)
c.165+2442C>G (n.165+2442C>G)
c.643C>G (p.Leu215Val)
c.649C>G (p.Leu217Val)
c.361C>G (p.Leu121Val)
c.*2361C>G (n.*2361C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644499C>TCA278243BTDc.583C>T (p.Leu195Phe)
c.399+2442C>T (n.399+2442C>T)
c.165+2442C>T (n.165+2442C>T)
c.643C>T (p.Leu215Phe)
c.649C>T (p.Leu217Phe)
c.361C>T (p.Leu121Phe)
c.*2361C>T (n.*2361C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644500T>ACA351606742BTDc.584T>A (p.Leu195His)
c.399+2443T>A (n.399+2443T>A)
c.165+2443T>A (n.165+2443T>A)
c.644T>A (p.Leu215His)
c.650T>A (p.Leu217His)
c.362T>A (p.Leu121His)
c.*2362T>A (n.*2362T>A)
3g.15644500T>CCA351606743BTDc.584T>C (p.Leu195Pro)
c.399+2443T>C (n.399+2443T>C)
c.165+2443T>C (n.165+2443T>C)
c.644T>C (p.Leu215Pro)
c.650T>C (p.Leu217Pro)
c.362T>C (p.Leu121Pro)
c.*2362T>C (n.*2362T>C)
3g.15644500T>GCA351606744BTDc.584T>G (p.Leu195Arg)
c.399+2443T>G (n.399+2443T>G)
c.165+2443T>G (n.165+2443T>G)
c.644T>G (p.Leu215Arg)
c.650T>G (p.Leu217Arg)
c.362T>G (p.Leu121Arg)
c.*2362T>G (n.*2362T>G)
3g.15644501C>ACA432819356BTDc.585C>A (p.Leu195=)
c.399+2444C>A (n.399+2444C>A)
c.165+2444C>A (n.165+2444C>A)
c.645C>A (p.Leu215=)
c.651C>A (p.Leu217=)
c.363C>A (p.Leu121=)
c.*2363C>A (n.*2363C>A)
3g.15644501C=CA1347663863BTDc.585C= (p.Leu195=)
c.399+2444C= (n.399+2444C=)
c.165+2444C= (n.165+2444C=)
c.645C= (p.Leu215=)
c.651C= (p.Leu217=)
c.363C= (p.Leu121=)
c.*2363C= (n.*2363C=)
3g.15644501C>GCA432819358BTDc.585C>G (p.Leu195=)
c.399+2444C>G (n.399+2444C>G)
c.165+2444C>G (n.165+2444C>G)
c.645C>G (p.Leu215=)
c.651C>G (p.Leu217=)
c.363C>G (p.Leu121=)
c.*2363C>G (n.*2363C>G)
3g.15644501C>TCA145713BTDc.585C>T (p.Leu195=)
c.399+2444C>T (n.399+2444C>T)
c.165+2444C>T (n.165+2444C>T)
c.645C>T (p.Leu215=)
c.651C>T (p.Leu217=)
c.363C>T (p.Leu121=)
c.*2363C>T (n.*2363C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644502T>ACA351606747BTDc.586T>A (p.Tyr196Asn)
c.399+2445T>A (n.399+2445T>A)
c.165+2445T>A (n.165+2445T>A)
c.646T>A (p.Tyr216Asn)
c.652T>A (p.Tyr218Asn)
c.364T>A (p.Tyr122Asn)
c.*2364T>A (n.*2364T>A)
3g.15644502T>CCA351606746BTDc.586T>C (p.Tyr196His)
c.399+2445T>C (n.399+2445T>C)
c.165+2445T>C (n.165+2445T>C)
c.646T>C (p.Tyr216His)
c.652T>C (p.Tyr218His)
c.364T>C (p.Tyr122His)
c.*2364T>C (n.*2364T>C)
3g.15644502T>GCA351606745BTDc.586T>G (p.Tyr196Asp)
c.399+2445T>G (n.399+2445T>G)
c.165+2445T>G (n.165+2445T>G)
c.646T>G (p.Tyr216Asp)
c.652T>G (p.Tyr218Asp)
c.364T>G (p.Tyr122Asp)
c.*2364T>G (n.*2364T>G)
3g.15644502T=CA1347663868BTDc.586T= (p.Tyr196=)
c.399+2445T= (n.399+2445T=)
c.165+2445T= (n.165+2445T=)
c.646T= (p.Tyr216=)
c.652T= (p.Tyr218=)
c.364T= (p.Tyr122=)
c.*2364T= (n.*2364T=)
3g.15644503A>CCA351606748BTDc.587A>C (p.Tyr196Ser)
c.399+2446A>C (n.399+2446A>C)
c.165+2446A>C (n.165+2446A>C)
c.647A>C (p.Tyr216Ser)
c.653A>C (p.Tyr218Ser)
c.365A>C (p.Tyr122Ser)
c.*2365A>C (n.*2365A>C)
3g.15644503A>GCA351606749BTDc.587A>G (p.Tyr196Cys)
c.399+2446A>G (n.399+2446A>G)
c.165+2446A>G (n.165+2446A>G)
c.647A>G (p.Tyr216Cys)
c.653A>G (p.Tyr218Cys)
c.365A>G (p.Tyr122Cys)
c.*2365A>G (n.*2365A>G)
3g.15644503A>TCA351606750BTDc.587A>T (p.Tyr196Phe)
c.399+2446A>T (n.399+2446A>T)
c.165+2446A>T (n.165+2446A>T)
c.647A>T (p.Tyr216Phe)
c.653A>T (p.Tyr218Phe)
c.365A>T (p.Tyr122Phe)
c.*2365A>T (n.*2365A>T)
 gnomAD v4
3g.15644504C>ACA351606751BTDc.588C>A (p.Tyr196Ter)
c.399+2447C>A (n.399+2447C>A)
c.165+2447C>A (n.165+2447C>A)
c.648C>A (p.Tyr216Ter)
c.654C>A (p.Tyr218Ter)
c.366C>A (p.Tyr122Ter)
c.*2366C>A (n.*2366C>A)
 dbSNP
3g.15644504C=CA1347663871BTDc.588C= (p.Tyr196=)
c.399+2447C= (n.399+2447C=)
c.165+2447C= (n.165+2447C=)
c.648C= (p.Tyr216=)
c.654C= (p.Tyr218=)
c.366C= (p.Tyr122=)
c.*2366C= (n.*2366C=)
3g.15644504C>GCA351606752BTDc.588C>G (p.Tyr196Ter)
c.399+2447C>G (n.399+2447C>G)
c.165+2447C>G (n.165+2447C>G)
c.648C>G (p.Tyr216Ter)
c.654C>G (p.Tyr218Ter)
c.366C>G (p.Tyr122Ter)
c.*2366C>G (n.*2366C>G)
 ClinVar dbSNP
3g.15644504C>TCA432819361BTDc.588C>T (p.Tyr196=)
c.399+2447C>T (n.399+2447C>T)
c.165+2447C>T (n.165+2447C>T)
c.648C>T (p.Tyr216=)
c.654C>T (p.Tyr218=)
c.366C>T (p.Tyr122=)
c.*2366C>T (n.*2366C>T)
3g.15644504_15644507delinsCTTTCA1347663873BTDc.588_591delinsCTTT (p.Tyr196=)
c.399+2447_399+2450delinsCTTT (n.399+2447_399+2450delinsCTTT)
c.165+2447_165+2450delinsCTTT (n.165+2447_165+2450delinsCTTT)
c.648_651delinsCTTT (p.Tyr216=)
c.654_657delinsCTTT (p.Tyr218=)
c.366_369delinsCTTT (p.Tyr122=)
c.*2366_*2369delinsCTTT (n.*2366_*2369delinsCTTT)
3g.15644504_15644505insACA541677859BTDc.588_589insA (p.Phe197IlefsTer2)
c.399+2447_399+2448insA (n.399+2447_399+2448insA)
c.165+2447_165+2448insA (n.165+2447_165+2448insA)
c.648_649insA (p.Phe217IlefsTer2)
c.654_655insA (p.Phe219IlefsTer2)
c.366_367insA (p.Phe123IlefsTer2)
c.*2366_*2367insA (n.*2366_*2367insA)
 dbSNP gnomAD v2 gnomAD v4
3g.15644505T>ACA351606753BTDc.589T>A (p.Phe197Ile)
c.399+2448T>A (n.399+2448T>A)
c.165+2448T>A (n.165+2448T>A)
c.649T>A (p.Phe217Ile)
c.655T>A (p.Phe219Ile)
c.367T>A (p.Phe123Ile)
c.*2367T>A (n.*2367T>A)
3g.15644505T>CCA351606754BTDc.589T>C (p.Phe197Leu)
c.399+2448T>C (n.399+2448T>C)
c.165+2448T>C (n.165+2448T>C)
c.649T>C (p.Phe217Leu)
c.655T>C (p.Phe219Leu)
c.367T>C (p.Phe123Leu)
c.*2367T>C (n.*2367T>C)
3g.15644505T>GCA351606755BTDc.589T>G (p.Phe197Val)
c.399+2448T>G (n.399+2448T>G)
c.165+2448T>G (n.165+2448T>G)
c.649T>G (p.Phe217Val)
c.655T>G (p.Phe219Val)
c.367T>G (p.Phe123Val)
c.*2367T>G (n.*2367T>G)
 dbSNP gnomAD v2 gnomAD v4
3g.15644505T=CA1347663878BTDc.589T= (p.Phe197=)
c.399+2448T= (n.399+2448T=)
c.165+2448T= (n.165+2448T=)
c.649T= (p.Phe217=)
c.655T= (p.Phe219=)
c.367T= (p.Phe123=)
c.*2367T= (n.*2367T=)
3g.15644505_15644507delinsAGTACA658822116BTDc.589_591delinsAGTA (p.Phe197SerfsTer10)
c.399+2448_399+2450delinsAGTA (n.399+2448_399+2450delinsAGTA)
c.165+2448_165+2450delinsAGTA (n.165+2448_165+2450delinsAGTA)
c.649_651delinsAGTA (p.Phe217SerfsTer10)
c.655_657delinsAGTA (p.Phe219SerfsTer10)
c.367_369delinsAGTA (p.Phe123SerfsTer10)
c.*2367_*2369delinsAGTA (n.*2367_*2369delinsAGTA)
 ClinVar dbSNP
3g.15644506T>ACA351606756BTDc.590T>A (p.Phe197Tyr)
c.399+2449T>A (n.399+2449T>A)
c.165+2449T>A (n.165+2449T>A)
c.650T>A (p.Phe217Tyr)
c.656T>A (p.Phe219Tyr)
c.368T>A (p.Phe123Tyr)
c.*2368T>A (n.*2368T>A)
3g.15644506T>CCA351606757BTDc.590T>C (p.Phe197Ser)
c.399+2449T>C (n.399+2449T>C)
c.165+2449T>C (n.165+2449T>C)
c.650T>C (p.Phe217Ser)
c.656T>C (p.Phe219Ser)
c.368T>C (p.Phe123Ser)
c.*2368T>C (n.*2368T>C)
 gnomAD v4
3g.15644506T>GCA351606758BTDc.590T>G (p.Phe197Cys)
c.399+2449T>G (n.399+2449T>G)
c.165+2449T>G (n.165+2449T>G)
c.650T>G (p.Phe217Cys)
c.656T>G (p.Phe219Cys)
c.368T>G (p.Phe123Cys)
c.*2368T>G (n.*2368T>G)
3g.15644507T>ACA351606759BTDc.591T>A (p.Phe197Leu)
c.399+2450T>A (n.399+2450T>A)
c.165+2450T>A (n.165+2450T>A)
c.651T>A (p.Phe217Leu)
c.657T>A (p.Phe219Leu)
c.369T>A (p.Phe123Leu)
c.*2369T>A (n.*2369T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.15644507T>CCA432819363BTDc.591T>C (p.Phe197=)
c.399+2450T>C (n.399+2450T>C)
c.165+2450T>C (n.165+2450T>C)
c.651T>C (p.Phe217=)
c.657T>C (p.Phe219=)
c.369T>C (p.Phe123=)
c.*2369T>C (n.*2369T>C)
3g.15644507T>GCA2277355BTDc.591T>G (p.Phe197Leu)
c.399+2450T>G (n.399+2450T>G)
c.165+2450T>G (n.165+2450T>G)
c.651T>G (p.Phe217Leu)
c.657T>G (p.Phe219Leu)
c.369T>G (p.Phe123Leu)
c.*2369T>G (n.*2369T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644507T=CA1347663882BTDc.591T= (p.Phe197=)
c.399+2450T= (n.399+2450T=)
c.165+2450T= (n.165+2450T=)
c.651T= (p.Phe217=)
c.657T= (p.Phe219=)
c.369T= (p.Phe123=)
c.*2369T= (n.*2369T=)
3g.15644508G>ACA351606761BTDc.592G>A (p.Glu198Lys)
c.399+2451G>A (n.399+2451G>A)
c.165+2451G>A (n.165+2451G>A)
c.652G>A (p.Glu218Lys)
c.658G>A (p.Glu220Lys)
c.370G>A (p.Glu124Lys)
c.*2370G>A (n.*2370G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.15644508G>CCA278245BTDc.592G>C (p.Glu198Gln)
c.399+2451G>C (n.399+2451G>C)
c.165+2451G>C (n.165+2451G>C)
c.652G>C (p.Glu218Gln)
c.658G>C (p.Glu220Gln)
c.370G>C (p.Glu124Gln)
c.*2370G>C (n.*2370G>C)
 dbSNP
3g.15644508G=CA1347663889BTDc.592G= (p.Glu198=)
c.399+2451G= (n.399+2451G=)
c.165+2451G= (n.165+2451G=)
c.652G= (p.Glu218=)
c.658G= (p.Glu220=)
c.370G= (p.Glu124=)
c.*2370G= (n.*2370G=)
3g.15644508G>TCA351606760BTDc.592G>T (p.Glu198Ter)
c.399+2451G>T (n.399+2451G>T)
c.165+2451G>T (n.165+2451G>T)
c.652G>T (p.Glu218Ter)
c.658G>T (p.Glu220Ter)
c.370G>T (p.Glu124Ter)
c.*2370G>T (n.*2370G>T)
3g.15644509A>CCA351606762BTDc.593A>C (p.Glu198Ala)
c.399+2452A>C (n.399+2452A>C)
c.165+2452A>C (n.165+2452A>C)
c.653A>C (p.Glu218Ala)
c.659A>C (p.Glu220Ala)
c.371A>C (p.Glu124Ala)
c.*2371A>C (n.*2371A>C)
3g.15644509A>GCA351606764BTDc.593A>G (p.Glu198Gly)
c.399+2452A>G (n.399+2452A>G)
c.165+2452A>G (n.165+2452A>G)
c.653A>G (p.Glu218Gly)
c.659A>G (p.Glu220Gly)
c.371A>G (p.Glu124Gly)
c.*2371A>G (n.*2371A>G)
3g.15644509A>TCA351606763BTDc.593A>T (p.Glu198Val)
c.399+2452A>T (n.399+2452A>T)
c.165+2452A>T (n.165+2452A>T)
c.653A>T (p.Glu218Val)
c.659A>T (p.Glu220Val)
c.371A>T (p.Glu124Val)
c.*2371A>T (n.*2371A>T)
3g.15644510G>ACA2277356BTDc.594G>A (p.Glu198=)
c.399+2453G>A (n.399+2453G>A)
c.165+2453G>A (n.165+2453G>A)
c.654G>A (p.Glu218=)
c.660G>A (p.Glu220=)
c.372G>A (p.Glu124=)
c.*2372G>A (n.*2372G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.15644510G>CCA278247BTDc.594G>C (p.Glu198Asp)
c.399+2453G>C (n.399+2453G>C)
c.165+2453G>C (n.165+2453G>C)
c.654G>C (p.Glu218Asp)
c.660G>C (p.Glu220Asp)
c.372G>C (p.Glu124Asp)
c.*2372G>C (n.*2372G>C)
 ClinVar dbSNP gnomAD v4
3g.15644510G=CA1347663893BTDc.594G= (p.Glu198=)
c.399+2453G= (n.399+2453G=)
c.165+2453G= (n.165+2453G=)
c.654G= (p.Glu218=)
c.660G= (p.Glu220=)
c.372G= (p.Glu124=)
c.*2372G= (n.*2372G=)
3g.15644510G>TCA351606765BTDc.594G>T (p.Glu198Asp)
c.399+2453G>T (n.399+2453G>T)
c.165+2453G>T (n.165+2453G>T)
c.654G>T (p.Glu218Asp)
c.660G>T (p.Glu220Asp)
c.372G>T (p.Glu124Asp)
c.*2372G>T (n.*2372G>T)
3g.15644511G>ACA351606766BTDc.595G>A (p.Ala199Thr)
c.399+2454G>A (n.399+2454G>A)
c.165+2454G>A (n.165+2454G>A)
c.655G>A (p.Ala219Thr)
c.661G>A (p.Ala221Thr)
c.373G>A (p.Ala125Thr)
c.*2373G>A (n.*2373G>A)
3g.15644511G>CCA351606768BTDc.595G>C (p.Ala199Pro)
c.399+2454G>C (n.399+2454G>C)
c.165+2454G>C (n.165+2454G>C)
c.655G>C (p.Ala219Pro)
c.661G>C (p.Ala221Pro)
c.373G>C (p.Ala125Pro)
c.*2373G>C (n.*2373G>C)
3g.15644511G>TCA351606767BTDc.595G>T (p.Ala199Ser)
c.399+2454G>T (n.399+2454G>T)
c.165+2454G>T (n.165+2454G>T)
c.655G>T (p.Ala219Ser)
c.661G>T (p.Ala221Ser)
c.373G>T (p.Ala125Ser)
c.*2373G>T (n.*2373G>T)
3g.15644512C>ACA351606769BTDc.596C>A (p.Ala199Glu)
c.399+2455C>A (n.399+2455C>A)
c.165+2455C>A (n.165+2455C>A)
c.656C>A (p.Ala219Glu)
c.662C>A (p.Ala221Glu)
c.374C>A (p.Ala125Glu)
c.*2374C>A (n.*2374C>A)
3g.15644512C=CA1347663899BTDc.596C= (p.Ala199=)
c.399+2455C= (n.399+2455C=)
c.165+2455C= (n.165+2455C=)
c.656C= (p.Ala219=)
c.662C= (p.Ala221=)
c.374C= (p.Ala125=)
c.*2374C= (n.*2374C=)
3g.15644512C>GCA351606771BTDc.596C>G (p.Ala199Gly)
c.399+2455C>G (n.399+2455C>G)
c.165+2455C>G (n.165+2455C>G)
c.656C>G (p.Ala219Gly)
c.662C>G (p.Ala221Gly)
c.374C>G (p.Ala125Gly)
c.*2374C>G (n.*2374C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644512C>TCA351606770BTDc.596C>T (p.Ala199Val)
c.399+2455C>T (n.399+2455C>T)
c.165+2455C>T (n.165+2455C>T)
c.656C>T (p.Ala219Val)
c.662C>T (p.Ala221Val)
c.374C>T (p.Ala125Val)
c.*2374C>T (n.*2374C>T)
3g.15644513A=CA1347663902BTDc.597A= (p.Ala199=)
c.399+2456A= (n.399+2456A=)
c.165+2456A= (n.165+2456A=)
c.657A= (p.Ala219=)
c.663A= (p.Ala221=)
c.375A= (p.Ala125=)
c.*2375A= (n.*2375A=)
3g.15644513A>CCA432819369BTDc.597A>C (p.Ala199=)
c.399+2456A>C (n.399+2456A>C)
c.165+2456A>C (n.165+2456A>C)
c.657A>C (p.Ala219=)
c.663A>C (p.Ala221=)
c.375A>C (p.Ala125=)
c.*2375A>C (n.*2375A>C)
3g.15644513A>GCA432819370BTDc.597A>G (p.Ala199=)
c.399+2456A>G (n.399+2456A>G)
c.165+2456A>G (n.165+2456A>G)
c.657A>G (p.Ala219=)
c.663A>G (p.Ala221=)
c.375A>G (p.Ala125=)
c.*2375A>G (n.*2375A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644513A>TCA432819371BTDc.597A>T (p.Ala199=)
c.399+2456A>T (n.399+2456A>T)
c.165+2456A>T (n.165+2456A>T)
c.657A>T (p.Ala219=)
c.663A>T (p.Ala221=)
c.375A>T (p.Ala125=)
c.*2375A>T (n.*2375A>T)
3g.15644514G>ACA351606772BTDc.598G>A (p.Ala200Thr)
c.399+2457G>A (n.399+2457G>A)
c.165+2457G>A (n.165+2457G>A)
c.658G>A (p.Ala220Thr)
c.664G>A (p.Ala222Thr)
c.376G>A (p.Ala126Thr)
c.*2376G>A (n.*2376G>A)
3g.15644514G>CCA351606773BTDc.598G>C (p.Ala200Pro)
c.399+2457G>C (n.399+2457G>C)
c.165+2457G>C (n.165+2457G>C)
c.658G>C (p.Ala220Pro)
c.664G>C (p.Ala222Pro)
c.376G>C (p.Ala126Pro)
c.*2376G>C (n.*2376G>C)
3g.15644514G>TCA351606774BTDc.598G>T (p.Ala200Ser)
c.399+2457G>T (n.399+2457G>T)
c.165+2457G>T (n.165+2457G>T)
c.658G>T (p.Ala220Ser)
c.664G>T (p.Ala222Ser)
c.376G>T (p.Ala126Ser)
c.*2376G>T (n.*2376G>T)
3g.15644515C>ACA351606775BTDc.599C>A (p.Ala200Glu)
c.399+2458C>A (n.399+2458C>A)
c.165+2458C>A (n.165+2458C>A)
c.659C>A (p.Ala220Glu)
c.665C>A (p.Ala222Glu)
c.377C>A (p.Ala126Glu)
c.*2377C>A (n.*2377C>A)
 gnomAD v4
3g.15644515C>GCA351606776BTDc.599C>G (p.Ala200Gly)
c.399+2458C>G (n.399+2458C>G)
c.165+2458C>G (n.165+2458C>G)
c.659C>G (p.Ala220Gly)
c.665C>G (p.Ala222Gly)
c.377C>G (p.Ala126Gly)
c.*2377C>G (n.*2377C>G)
3g.15644515C>TCA351606777BTDc.599C>T (p.Ala200Val)
c.399+2458C>T (n.399+2458C>T)
c.165+2458C>T (n.165+2458C>T)
c.659C>T (p.Ala220Val)
c.665C>T (p.Ala222Val)
c.377C>T (p.Ala126Val)
c.*2377C>T (n.*2377C>T)
3g.15644516A=CA1347663906BTDc.600A= (p.Ala200=)
c.399+2459A= (n.399+2459A=)
c.165+2459A= (n.165+2459A=)
c.660A= (p.Ala220=)
c.666A= (p.Ala222=)
c.378A= (p.Ala126=)
c.*2378A= (n.*2378A=)
3g.15644516A>CCA432819375BTDc.600A>C (p.Ala200=)
c.399+2459A>C (n.399+2459A>C)
c.165+2459A>C (n.165+2459A>C)
c.660A>C (p.Ala220=)
c.666A>C (p.Ala222=)
c.378A>C (p.Ala126=)
c.*2378A>C (n.*2378A>C)
3g.15644516A>GCA2277357BTDc.600A>G (p.Ala200=)
c.399+2459A>G (n.399+2459A>G)
c.165+2459A>G (n.165+2459A>G)
c.660A>G (p.Ala220=)
c.666A>G (p.Ala222=)
c.378A>G (p.Ala126=)
c.*2378A>G (n.*2378A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644516A>TCA432819376BTDc.600A>T (p.Ala200=)
c.399+2459A>T (n.399+2459A>T)
c.165+2459A>T (n.165+2459A>T)
c.660A>T (p.Ala220=)
c.666A>T (p.Ala222=)
c.378A>T (p.Ala126=)
c.*2378A>T (n.*2378A>T)
3g.15644517T>ACA351606778BTDc.601T>A (p.Phe201Ile)
c.399+2460T>A (n.399+2460T>A)
c.165+2460T>A (n.165+2460T>A)
c.661T>A (p.Phe221Ile)
c.667T>A (p.Phe223Ile)
c.379T>A (p.Phe127Ile)
c.*2379T>A (n.*2379T>A)
3g.15644517T>CCA351606779BTDc.601T>C (p.Phe201Leu)
c.399+2460T>C (n.399+2460T>C)
c.165+2460T>C (n.165+2460T>C)
c.661T>C (p.Phe221Leu)
c.667T>C (p.Phe223Leu)
c.379T>C (p.Phe127Leu)
c.*2379T>C (n.*2379T>C)
3g.15644517T>GCA351606780BTDc.601T>G (p.Phe201Val)
c.399+2460T>G (n.399+2460T>G)
c.165+2460T>G (n.165+2460T>G)
c.661T>G (p.Phe221Val)
c.667T>G (p.Phe223Val)
c.379T>G (p.Phe127Val)
c.*2379T>G (n.*2379T>G)
3g.15644518T>ACA351606781BTDc.602T>A (p.Phe201Tyr)
c.399+2461T>A (n.399+2461T>A)
c.165+2461T>A (n.165+2461T>A)
c.662T>A (p.Phe221Tyr)
c.668T>A (p.Phe223Tyr)
c.380T>A (p.Phe127Tyr)
c.*2380T>A (n.*2380T>A)
3g.15644518T>CCA351606782BTDc.602T>C (p.Phe201Ser)
c.399+2461T>C (n.399+2461T>C)
c.165+2461T>C (n.165+2461T>C)
c.662T>C (p.Phe221Ser)
c.668T>C (p.Phe223Ser)
c.380T>C (p.Phe127Ser)
c.*2380T>C (n.*2380T>C)
3g.15644518T>GCA351606783BTDc.602T>G (p.Phe201Cys)
c.399+2461T>G (n.399+2461T>G)
c.165+2461T>G (n.165+2461T>G)
c.662T>G (p.Phe221Cys)
c.668T>G (p.Phe223Cys)
c.380T>G (p.Phe127Cys)
c.*2380T>G (n.*2380T>G)
3g.15644519C>ACA351606785BTDc.603C>A (p.Phe201Leu)
c.399+2462C>A (n.399+2462C>A)
c.165+2462C>A (n.165+2462C>A)
c.663C>A (p.Phe221Leu)
c.669C>A (p.Phe223Leu)
c.381C>A (p.Phe127Leu)
c.*2381C>A (n.*2381C>A)
3g.15644519C=CA1347663910BTDc.603C= (p.Phe201=)
c.399+2462C= (n.399+2462C=)
c.165+2462C= (n.165+2462C=)
c.663C= (p.Phe221=)
c.669C= (p.Phe223=)
c.381C= (p.Phe127=)
c.*2381C= (n.*2381C=)
3g.15644519C>GCA351606784BTDc.603C>G (p.Phe201Leu)
c.399+2462C>G (n.399+2462C>G)
c.165+2462C>G (n.165+2462C>G)
c.663C>G (p.Phe221Leu)
c.669C>G (p.Phe223Leu)
c.381C>G (p.Phe127Leu)
c.*2381C>G (n.*2381C>G)
3g.15644519C>TCA2277358BTDc.603C>T (p.Phe201=)
c.399+2462C>T (n.399+2462C>T)
c.165+2462C>T (n.165+2462C>T)
c.663C>T (p.Phe221=)
c.669C>T (p.Phe223=)
c.381C>T (p.Phe127=)
c.*2381C>T (n.*2381C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644520G>ACA2277359BTDc.604G>A (p.Asp202Asn)
c.399+2463G>A (n.399+2463G>A)
c.165+2463G>A (n.165+2463G>A)
c.664G>A (p.Asp222Asn)
c.670G>A (p.Asp224Asn)
c.382G>A (p.Asp128Asn)
c.*2382G>A (n.*2382G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.15644520G>CCA278366BTDc.604G>C (p.Asp202His)
c.399+2463G>C (n.399+2463G>C)
c.165+2463G>C (n.165+2463G>C)
c.664G>C (p.Asp222His)
c.670G>C (p.Asp224His)
c.382G>C (p.Asp128His)
c.*2382G>C (n.*2382G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.15644520G=CA1347663920BTDc.604G= (p.Asp202=)
c.399+2463G= (n.399+2463G=)
c.165+2463G= (n.165+2463G=)
c.664G= (p.Asp222=)
c.670G= (p.Asp224=)
c.382G= (p.Asp128=)
c.*2382G= (n.*2382G=)
3g.15644520G>TCA351606786BTDc.604G>T (p.Asp202Tyr)
c.399+2463G>T (n.399+2463G>T)
c.165+2463G>T (n.165+2463G>T)
c.664G>T (p.Asp222Tyr)
c.670G>T (p.Asp224Tyr)
c.382G>T (p.Asp128Tyr)
c.*2382G>T (n.*2382G>T)
3g.15644521A=CA1347663928BTDc.605A= (p.Asp202=)
c.399+2464A= (n.399+2464A=)
c.165+2464A= (n.165+2464A=)
c.665A= (p.Asp222=)
c.671A= (p.Asp224=)
c.383A= (p.Asp128=)
c.*2383A= (n.*2383A=)
3g.15644521A>CCA351606787BTDc.605A>C (p.Asp202Ala)
c.399+2464A>C (n.399+2464A>C)
c.165+2464A>C (n.165+2464A>C)
c.665A>C (p.Asp222Ala)
c.671A>C (p.Asp224Ala)
c.383A>C (p.Asp128Ala)
c.*2383A>C (n.*2383A>C)
3g.15644521A>GCA351606788BTDc.605A>G (p.Asp202Gly)
c.399+2464A>G (n.399+2464A>G)
c.165+2464A>G (n.165+2464A>G)
c.665A>G (p.Asp222Gly)
c.671A>G (p.Asp224Gly)
c.383A>G (p.Asp128Gly)
c.*2383A>G (n.*2383A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.15644521A>TCA351606789BTDc.605A>T (p.Asp202Val)
c.399+2464A>T (n.399+2464A>T)
c.165+2464A>T (n.165+2464A>T)
c.665A>T (p.Asp222Val)
c.671A>T (p.Asp224Val)
c.383A>T (p.Asp128Val)
c.*2383A>T (n.*2383A>T)
3g.15644522T>ACA351606790BTDc.606T>A (p.Asp202Glu)
c.399+2465T>A (n.399+2465T>A)
c.165+2465T>A (n.165+2465T>A)
c.666T>A (p.Asp222Glu)
c.672T>A (p.Asp224Glu)
c.384T>A (p.Asp128Glu)
c.*2384T>A (n.*2384T>A)
 ClinVar
3g.15644522T>CCA432819377BTDc.606T>C (p.Asp202=)
c.399+2465T>C (n.399+2465T>C)
c.165+2465T>C (n.165+2465T>C)
c.666T>C (p.Asp222=)
c.672T>C (p.Asp224=)
c.384T>C (p.Asp128=)
c.*2384T>C (n.*2384T>C)
 dbSNP
3g.15644522T>GCA351606791BTDc.606T>G (p.Asp202Glu)
c.399+2465T>G (n.399+2465T>G)
c.165+2465T>G (n.165+2465T>G)
c.666T>G (p.Asp222Glu)
c.672T>G (p.Asp224Glu)
c.384T>G (p.Asp128Glu)
c.*2384T>G (n.*2384T>G)
3g.15644522T=CA1347663930BTDc.606T= (p.Asp202=)
c.399+2465T= (n.399+2465T=)
c.165+2465T= (n.165+2465T=)
c.666T= (p.Asp222=)
c.672T= (p.Asp224=)
c.384T= (p.Asp128=)
c.*2384T= (n.*2384T=)
3g.15644523G>ACA351606792BTDc.607G>A (p.Val203Ile)
c.399+2466G>A (n.399+2466G>A)
c.165+2466G>A (n.165+2466G>A)
c.667G>A (p.Val223Ile)
c.673G>A (p.Val225Ile)
c.385G>A (p.Val129Ile)
c.*2385G>A (n.*2385G>A)
 gnomAD v4
3g.15644523G>CCA351606793BTDc.607G>C (p.Val203Leu)
c.399+2466G>C (n.399+2466G>C)
c.165+2466G>C (n.165+2466G>C)
c.667G>C (p.Val223Leu)
c.673G>C (p.Val225Leu)
c.385G>C (p.Val129Leu)
c.*2385G>C (n.*2385G>C)
3g.15644523G>TCA351606794BTDc.607G>T (p.Val203Phe)
c.399+2466G>T (n.399+2466G>T)
c.165+2466G>T (n.165+2466G>T)
c.667G>T (p.Val223Phe)
c.673G>T (p.Val225Phe)
c.385G>T (p.Val129Phe)
c.*2385G>T (n.*2385G>T)
3g.15644524T>ACA351606795BTDc.608T>A (p.Val203Asp)
c.399+2467T>A (n.399+2467T>A)
c.165+2467T>A (n.165+2467T>A)
c.668T>A (p.Val223Asp)
c.674T>A (p.Val225Asp)
c.386T>A (p.Val129Asp)
c.*2386T>A (n.*2386T>A)
3g.15644524T>CCA351606796BTDc.608T>C (p.Val203Ala)
c.399+2467T>C (n.399+2467T>C)
c.165+2467T>C (n.165+2467T>C)
c.668T>C (p.Val223Ala)
c.674T>C (p.Val225Ala)
c.386T>C (p.Val129Ala)
c.*2386T>C (n.*2386T>C)
3g.15644524T>GCA351606797BTDc.608T>G (p.Val203Gly)
c.399+2467T>G (n.399+2467T>G)
c.165+2467T>G (n.165+2467T>G)
c.668T>G (p.Val223Gly)
c.674T>G (p.Val225Gly)
c.386T>G (p.Val129Gly)
c.*2386T>G (n.*2386T>G)
3g.15644525T>ACA432819379BTDc.609T>A (p.Val203=)
c.399+2468T>A (n.399+2468T>A)
c.165+2468T>A (n.165+2468T>A)
c.669T>A (p.Val223=)
c.675T>A (p.Val225=)
c.387T>A (p.Val129=)
c.*2387T>A (n.*2387T>A)
3g.15644525T>CCA432819381BTDc.609T>C (p.Val203=)
c.399+2468T>C (n.399+2468T>C)
c.165+2468T>C (n.165+2468T>C)
c.669T>C (p.Val223=)
c.675T>C (p.Val225=)
c.387T>C (p.Val129=)
c.*2387T>C (n.*2387T>C)
 COSMIC
3g.15644525T>GCA432819380BTDc.609T>G (p.Val203=)
c.399+2468T>G (n.399+2468T>G)
c.165+2468T>G (n.165+2468T>G)
c.669T>G (p.Val223=)
c.675T>G (p.Val225=)
c.387T>G (p.Val129=)
c.*2387T>G (n.*2387T>G)
3g.15644526C>ACA351606799BTDc.610C>A (p.Pro204Thr)
c.399+2469C>A (n.399+2469C>A)
c.165+2469C>A (n.165+2469C>A)
c.670C>A (p.Pro224Thr)
c.676C>A (p.Pro226Thr)
c.388C>A (p.Pro130Thr)
c.*2388C>A (n.*2388C>A)
3g.15644526C=CA1347663932BTDc.610C= (p.Pro204=)
c.399+2469C= (n.399+2469C=)
c.165+2469C= (n.165+2469C=)
c.670C= (p.Pro224=)
c.676C= (p.Pro226=)
c.388C= (p.Pro130=)
c.*2388C= (n.*2388C=)
3g.15644526C>GCA70621853BTDc.610C>G (p.Pro204Ala)
c.399+2469C>G (n.399+2469C>G)
c.165+2469C>G (n.165+2469C>G)
c.670C>G (p.Pro224Ala)
c.676C>G (p.Pro226Ala)
c.388C>G (p.Pro130Ala)
c.*2388C>G (n.*2388C>G)
 dbSNP gnomAD v4
3g.15644526C>TCA351606798BTDc.610C>T (p.Pro204Ser)
c.399+2469C>T (n.399+2469C>T)
c.165+2469C>T (n.165+2469C>T)
c.670C>T (p.Pro224Ser)
c.676C>T (p.Pro226Ser)
c.388C>T (p.Pro130Ser)
c.*2388C>T (n.*2388C>T)
 gnomAD v4

Number of alleles fetched