Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.54626258_54626316delCA2780387017RP1c.2376_2434del (p.Arg793TyrfsTer3)
c.787+3970_787+4028del (n.787+3970_787+4028del)
c.2397_2455del (p.Arg800TyrfsTer3)
8g.54626259_54626261delCA2687301831RP1c.2377_2379del (p.Arg793del)
c.787+3971_787+3973del (n.787+3971_787+3973del)
c.2398_2400del (p.Arg800del)
 gnomAD v4
8g.54626261A>CCA370993632RP1c.2379A>C (p.Arg793Ser)
c.787+3973A>C (n.787+3973A>C)
c.2400A>C (p.Arg800Ser)
8g.54626261A>GCA461098708RP1c.2379A>G (p.Arg793=)
c.787+3973A>G (n.787+3973A>G)
c.2400A>G (p.Arg800=)
8g.54626261A>TCA370993633RP1c.2379A>T (p.Arg793Ser)
c.787+3973A>T (n.787+3973A>T)
c.2400A>T (p.Arg800Ser)
8g.54626262G>ACA4751519RP1c.2380G>A (p.Glu794Lys)
c.787+3974G>A (n.787+3974G>A)
c.2401G>A (p.Glu801Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626262G>CCA370993637RP1c.2380G>C (p.Glu794Gln)
c.787+3974G>C (n.787+3974G>C)
c.2401G>C (p.Glu801Gln)
8g.54626262G=CA1785188237RP1c.2380G= (p.Glu794=)
c.787+3974G= (n.787+3974G=)
c.2401G= (p.Glu801=)
8g.54626262G>TCA370993638RP1c.2380G>T (p.Glu794Ter)
c.787+3974G>T (n.787+3974G>T)
c.2401G>T (p.Glu801Ter)
 ClinVar
8g.54626263A=CA1785188238RP1c.2381A= (p.Glu794=)
c.787+3975A= (n.787+3975A=)
c.2402A= (p.Glu801=)
8g.54626263A>CCA370993641RP1c.2381A>C (p.Glu794Ala)
c.787+3975A>C (n.787+3975A>C)
c.2402A>C (p.Glu801Ala)
8g.54626263A>GCA177237140RP1c.2381A>G (p.Glu794Gly)
c.787+3975A>G (n.787+3975A>G)
c.2402A>G (p.Glu801Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626263A>TCA370993643RP1c.2381A>T (p.Glu794Val)
c.787+3975A>T (n.787+3975A>T)
c.2402A>T (p.Glu801Val)
8g.54626264A>CCA370993644RP1c.2382A>C (p.Glu794Asp)
c.787+3976A>C (n.787+3976A>C)
c.2403A>C (p.Glu801Asp)
8g.54626264A>GCA461098714RP1c.2382A>G (p.Glu794=)
c.787+3976A>G (n.787+3976A>G)
c.2403A>G (p.Glu801=)
 gnomAD v4
8g.54626264A>TCA370993645RP1c.2382A>T (p.Glu794Asp)
c.787+3976A>T (n.787+3976A>T)
c.2403A>T (p.Glu801Asp)
8g.54626265A>CCA370993647RP1c.2383A>C (p.Ile795Leu)
c.787+3977A>C (n.787+3977A>C)
c.2404A>C (p.Ile802Leu)
8g.54626265A>GCA370993649RP1c.2383A>G (p.Ile795Val)
c.787+3977A>G (n.787+3977A>G)
c.2404A>G (p.Ile802Val)
 dbSNP gnomAD v4
8g.54626265A>TCA370993651RP1c.2383A>T (p.Ile795Phe)
c.787+3977A>T (n.787+3977A>T)
c.2404A>T (p.Ile802Phe)
 gnomAD v4
8g.54626266T>ACA370993654RP1c.2384T>A (p.Ile795Asn)
c.787+3978T>A (n.787+3978T>A)
c.2405T>A (p.Ile802Asn)
8g.54626266T>CCA4751520RP1c.2384T>C (p.Ile795Thr)
c.787+3978T>C (n.787+3978T>C)
c.2405T>C (p.Ile802Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626266T>GCA370993657RP1c.2384T>G (p.Ile795Ser)
c.787+3978T>G (n.787+3978T>G)
c.2405T>G (p.Ile802Ser)
8g.54626266T=CA1785188239RP1c.2384T= (p.Ile795=)
c.787+3978T= (n.787+3978T=)
c.2405T= (p.Ile802=)
8g.54626267C>ACA461098721RP1c.2385C>A (p.Ile795=)
c.787+3979C>A (n.787+3979C>A)
c.2406C>A (p.Ile802=)
8g.54626267C=CA1785188240RP1c.2385C= (p.Ile795=)
c.787+3979C= (n.787+3979C=)
c.2406C= (p.Ile802=)
8g.54626267C>GCA370993659RP1c.2385C>G (p.Ile795Met)
c.787+3979C>G (n.787+3979C>G)
c.2406C>G (p.Ile802Met)
8g.54626267C>TCA4751521RP1c.2385C>T (p.Ile795=)
c.787+3979C>T (n.787+3979C>T)
c.2406C>T (p.Ile802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626268G>ACA4751522RP1c.2386G>A (p.Gly796Ser)
c.787+3980G>A (n.787+3980G>A)
c.2407G>A (p.Gly803Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626268G>CCA370993663RP1c.2386G>C (p.Gly796Arg)
c.787+3980G>C (n.787+3980G>C)
c.2407G>C (p.Gly803Arg)
8g.54626268G=CA1785188241RP1c.2386G= (p.Gly796=)
c.787+3980G= (n.787+3980G=)
c.2407G= (p.Gly803=)
8g.54626268G>TCA370993665RP1c.2386G>T (p.Gly796Cys)
c.787+3980G>T (n.787+3980G>T)
c.2407G>T (p.Gly803Cys)
8g.54626269G>ACA4751524RP1c.2387G>A (p.Gly796Asp)
c.787+3981G>A (n.787+3981G>A)
c.2408G>A (p.Gly803Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626269G>CCA370993666RP1c.2387G>C (p.Gly796Ala)
c.787+3981G>C (n.787+3981G>C)
c.2408G>C (p.Gly803Ala)
8g.54626269G=CA1785188242RP1c.2387G= (p.Gly796=)
c.787+3981G= (n.787+3981G=)
c.2408G= (p.Gly803=)
8g.54626269G>TCA4751523RP1c.2387G>T (p.Gly796Val)
c.787+3981G>T (n.787+3981G>T)
c.2408G>T (p.Gly803Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.54626270T>ACA461098727RP1c.2388T>A (p.Gly796=)
c.787+3982T>A (n.787+3982T>A)
c.2409T>A (p.Gly803=)
8g.54626270T>CCA461098728RP1c.2388T>C (p.Gly796=)
c.787+3982T>C (n.787+3982T>C)
c.2409T>C (p.Gly803=)
 gnomAD v4
8g.54626270T>GCA461098729RP1c.2388T>G (p.Gly796=)
c.787+3982T>G (n.787+3982T>G)
c.2409T>G (p.Gly803=)
8g.54626271C>ACA370993667RP1c.2389C>A (p.Gln797Lys)
c.787+3983C>A (n.787+3983C>A)
c.2410C>A (p.Gln804Lys)
 gnomAD v4
8g.54626271C>GCA370993668RP1c.2389C>G (p.Gln797Glu)
c.787+3983C>G (n.787+3983C>G)
c.2410C>G (p.Gln804Glu)
8g.54626271C>TCA370993669RP1c.2389C>T (p.Gln797Ter)
c.787+3983C>T (n.787+3983C>T)
c.2410C>T (p.Gln804Ter)
8g.54626271_54626273delinsCAACA1785188243RP1c.2389_2391delinsCAA (p.Gln797=)
c.787+3983_787+3985delinsCAA (n.787+3983_787+3985delinsCAA)
c.2410_2412delinsCAA (p.Gln804=)
8g.54626272A>CCA370993670RP1c.2390A>C (p.Gln797Pro)
c.787+3984A>C (n.787+3984A>C)
c.2411A>C (p.Gln804Pro)
8g.54626272A>GCA370993671RP1c.2390A>G (p.Gln797Arg)
c.787+3984A>G (n.787+3984A>G)
c.2411A>G (p.Gln804Arg)
 gnomAD v4
8g.54626272A>TCA370993672RP1c.2390A>T (p.Gln797Leu)
c.787+3984A>T (n.787+3984A>T)
c.2411A>T (p.Gln804Leu)
8g.54626273_54626274delCA582205590RP1c.2391_2392del (p.Asp799Ter)
c.787+3985_787+3986del (n.787+3985_787+3986del)
c.2412_2413del (p.Asp806Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54626273A>CCA370993673RP1c.2391A>C (p.Gln797His)
c.787+3985A>C (n.787+3985A>C)
c.2412A>C (p.Gln804His)
8g.54626273A>GCA461098735RP1c.2391A>G (p.Gln797=)
c.787+3985A>G (n.787+3985A>G)
c.2412A>G (p.Gln804=)
8g.54626273A>TCA370993674RP1c.2391A>T (p.Gln797His)
c.787+3985A>T (n.787+3985A>T)
c.2412A>T (p.Gln804His)
8g.54626274A>CCA461098737RP1c.2392A>C (p.Arg798=)
c.787+3986A>C (n.787+3986A>C)
c.2413A>C (p.Arg805=)
8g.54626274A>GCA370993675RP1c.2392A>G (p.Arg798Gly)
c.787+3986A>G (n.787+3986A>G)
c.2413A>G (p.Arg805Gly)
8g.54626274A>TCA370993676RP1c.2392A>T (p.Arg798Ter)
c.787+3986A>T (n.787+3986A>T)
c.2413A>T (p.Arg805Ter)
8g.54626275G>ACA370993677RP1c.2393G>A (p.Arg798Lys)
c.787+3987G>A (n.787+3987G>A)
c.2414G>A (p.Arg805Lys)
 COSMIC
8g.54626275G>CCA370993678RP1c.2393G>C (p.Arg798Thr)
c.787+3987G>C (n.787+3987G>C)
c.2414G>C (p.Arg805Thr)
8g.54626275G>TCA370993679RP1c.2393G>T (p.Arg798Ile)
c.787+3987G>T (n.787+3987G>T)
c.2414G>T (p.Arg805Ile)
8g.54626276A>CCA370993681RP1c.2394A>C (p.Arg798Ser)
c.787+3988A>C (n.787+3988A>C)
c.2415A>C (p.Arg805Ser)
8g.54626276A>GCA461098741RP1c.2394A>G (p.Arg798=)
c.787+3988A>G (n.787+3988A>G)
c.2415A>G (p.Arg805=)
8g.54626276A>TCA370993680RP1c.2394A>T (p.Arg798Ser)
c.787+3988A>T (n.787+3988A>T)
c.2415A>T (p.Arg805Ser)
8g.54626277G>ACA370993682RP1c.2395G>A (p.Asp799Asn)
c.787+3989G>A (n.787+3989G>A)
c.2416G>A (p.Asp806Asn)
 COSMIC
8g.54626277G>CCA370993683RP1c.2395G>C (p.Asp799His)
c.787+3989G>C (n.787+3989G>C)
c.2416G>C (p.Asp806His)
8g.54626277G=CA1785188244RP1c.2395G= (p.Asp799=)
c.787+3989G= (n.787+3989G=)
c.2416G= (p.Asp806=)
8g.54626277G>TCA370993684RP1c.2395G>T (p.Asp799Tyr)
c.787+3989G>T (n.787+3989G>T)
c.2416G>T (p.Asp806Tyr)
 dbSNP gnomAD v4
8g.54626278A>CCA370993685RP1c.2396A>C (p.Asp799Ala)
c.787+3990A>C (n.787+3990A>C)
c.2417A>C (p.Asp806Ala)
8g.54626278A>GCA370993686RP1c.2396A>G (p.Asp799Gly)
c.787+3990A>G (n.787+3990A>G)
c.2417A>G (p.Asp806Gly)
8g.54626278A>TCA370993687RP1c.2396A>T (p.Asp799Val)
c.787+3990A>T (n.787+3990A>T)
c.2417A>T (p.Asp806Val)
8g.54626279T>ACA4751525RP1c.2397T>A (p.Asp799Glu)
c.787+3991T>A (n.787+3991T>A)
c.2418T>A (p.Asp806Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626279T>CCA461098748RP1c.2397T>C (p.Asp799=)
c.787+3991T>C (n.787+3991T>C)
c.2418T>C (p.Asp806=)
8g.54626279T>GCA4751526RP1c.2397T>G (p.Asp799Glu)
c.787+3991T>G (n.787+3991T>G)
c.2418T>G (p.Asp806Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626279T=CA1785188245RP1c.2397T= (p.Asp799=)
c.787+3991T= (n.787+3991T=)
c.2418T= (p.Asp806=)
8g.54626280A>CCA370993689RP1c.2398A>C (p.Lys800Gln)
c.787+3992A>C (n.787+3992A>C)
c.2419A>C (p.Lys807Gln)
8g.54626280A>GCA370993691RP1c.2398A>G (p.Lys800Glu)
c.787+3992A>G (n.787+3992A>G)
c.2419A>G (p.Lys807Glu)
8g.54626280A>TCA370993692RP1c.2398A>T (p.Lys800Ter)
c.787+3992A>T (n.787+3992A>T)
c.2419A>T (p.Lys807Ter)
 ClinVar
8g.54626281_54626282delCA2695209285RP1c.2399_2400del (p.Lys800SerfsTer6)
c.787+3993_787+3994del (n.787+3993_787+3994del)
c.2420_2421del (p.Lys807SerfsTer6)
8g.54626281A>CCA370993693RP1c.2399A>C (p.Lys800Thr)
c.787+3993A>C (n.787+3993A>C)
c.2420A>C (p.Lys807Thr)
 gnomAD v4
8g.54626281A>GCA370993695RP1c.2399A>G (p.Lys800Arg)
c.787+3993A>G (n.787+3993A>G)
c.2420A>G (p.Lys807Arg)
8g.54626281A>TCA370993697RP1c.2399A>T (p.Lys800Ile)
c.787+3993A>T (n.787+3993A>T)
c.2420A>T (p.Lys807Ile)
8g.54626282A>CCA370993698RP1c.2400A>C (p.Lys800Asn)
c.787+3994A>C (n.787+3994A>C)
c.2421A>C (p.Lys807Asn)
8g.54626282A>GCA461098753RP1c.2400A>G (p.Lys800=)
c.787+3994A>G (n.787+3994A>G)
c.2421A>G (p.Lys807=)
8g.54626282A>TCA370993700RP1c.2400A>T (p.Lys800Asn)
c.787+3994A>T (n.787+3994A>T)
c.2421A>T (p.Lys807Asn)
8g.54626283G>ACA370993701RP1c.2401G>A (p.Val801Met)
c.787+3995G>A (n.787+3995G>A)
c.2422G>A (p.Val808Met)
 dbSNP gnomAD v3 gnomAD v4
8g.54626283G>CCA370993705RP1c.2401G>C (p.Val801Leu)
c.787+3995G>C (n.787+3995G>C)
c.2422G>C (p.Val808Leu)
8g.54626283G=CA1785188246RP1c.2401G= (p.Val801=)
c.787+3995G= (n.787+3995G=)
c.2422G= (p.Val808=)
8g.54626283G>TCA370993703RP1c.2401G>T (p.Val801Leu)
c.787+3995G>T (n.787+3995G>T)
c.2422G>T (p.Val808Leu)
8g.54626284T>ACA370993707RP1c.2402T>A (p.Val801Glu)
c.787+3996T>A (n.787+3996T>A)
c.2423T>A (p.Val808Glu)
8g.54626284T>CCA370993710RP1c.2402T>C (p.Val801Ala)
c.787+3996T>C (n.787+3996T>C)
c.2423T>C (p.Val808Ala)
 gnomAD v4
8g.54626284T>GCA370993708RP1c.2402T>G (p.Val801Gly)
c.787+3996T>G (n.787+3996T>G)
c.2423T>G (p.Val808Gly)
8g.54626285G>ACA461098756RP1c.2403G>A (p.Val801=)
c.787+3997G>A (n.787+3997G>A)
c.2424G>A (p.Val808=)
 gnomAD v3 gnomAD v4
8g.54626285G>CCA461098757RP1c.2403G>C (p.Val801=)
c.787+3997G>C (n.787+3997G>C)
c.2424G>C (p.Val808=)
8g.54626285G=CA1785188247RP1c.2403G= (p.Val801=)
c.787+3997G= (n.787+3997G=)
c.2424G= (p.Val808=)
8g.54626285G>TCA461098758RP1c.2403G>T (p.Val801=)
c.787+3997G>T (n.787+3997G>T)
c.2424G>T (p.Val808=)
 dbSNP
8g.54626286T>ACA370993712RP1c.2404T>A (p.Phe802Ile)
c.787+3998T>A (n.787+3998T>A)
c.2425T>A (p.Phe809Ile)
8g.54626286T>CCA370993714RP1c.2404T>C (p.Phe802Leu)
c.787+3998T>C (n.787+3998T>C)
c.2425T>C (p.Phe809Leu)
8g.54626286T>GCA370993715RP1c.2404T>G (p.Phe802Val)
c.787+3998T>G (n.787+3998T>G)
c.2425T>G (p.Phe809Val)
8g.54626287T>ACA370993717RP1c.2405T>A (p.Phe802Tyr)
c.787+3999T>A (n.787+3999T>A)
c.2426T>A (p.Phe809Tyr)
 gnomAD v4
8g.54626287T>CCA370993718RP1c.2405T>C (p.Phe802Ser)
c.787+3999T>C (n.787+3999T>C)
c.2426T>C (p.Phe809Ser)
 dbSNP
8g.54626287T>GCA370993720RP1c.2405T>G (p.Phe802Cys)
c.787+3999T>G (n.787+3999T>G)
c.2426T>G (p.Phe809Cys)
8g.54626288T>ACA370993722RP1c.2406T>A (p.Phe802Leu)
c.787+4000T>A (n.787+4000T>A)
c.2427T>A (p.Phe809Leu)
8g.54626288T>CCA461098760RP1c.2406T>C (p.Phe802=)
c.787+4000T>C (n.787+4000T>C)
c.2427T>C (p.Phe809=)
8g.54626288T>GCA370993723RP1c.2406T>G (p.Phe802Leu)
c.787+4000T>G (n.787+4000T>G)
c.2427T>G (p.Phe809Leu)
8g.54626289C>ACA370993726RP1c.2407C>A (p.Pro803Thr)
c.787+4001C>A (n.787+4001C>A)
c.2428C>A (p.Pro810Thr)
8g.54626289C=CA1785188248RP1c.2407C= (p.Pro803=)
c.787+4001C= (n.787+4001C=)
c.2428C= (p.Pro810=)
8g.54626289C>GCA370993727RP1c.2407C>G (p.Pro803Ala)
c.787+4001C>G (n.787+4001C>G)
c.2428C>G (p.Pro810Ala)
 dbSNP gnomAD v2
8g.54626289C>TCA370993728RP1c.2407C>T (p.Pro803Ser)
c.787+4001C>T (n.787+4001C>T)
c.2428C>T (p.Pro810Ser)
 COSMIC
8g.54626290C>ACA370993734RP1c.2408C>A (p.Pro803His)
c.787+4002C>A (n.787+4002C>A)
c.2429C>A (p.Pro810His)
8g.54626290C>GCA370993732RP1c.2408C>G (p.Pro803Arg)
c.787+4002C>G (n.787+4002C>G)
c.2429C>G (p.Pro810Arg)
8g.54626290C>TCA370993730RP1c.2408C>T (p.Pro803Leu)
c.787+4002C>T (n.787+4002C>T)
c.2429C>T (p.Pro810Leu)
 gnomAD v4
8g.54626291T>ACA461098762RP1c.2409T>A (p.Pro803=)
c.787+4003T>A (n.787+4003T>A)
c.2430T>A (p.Pro810=)
 COSMIC
8g.54626291T>CCA461098765RP1c.2409T>C (p.Pro803=)
c.787+4003T>C (n.787+4003T>C)
c.2430T>C (p.Pro810=)
8g.54626291T>GCA461098767RP1c.2409T>G (p.Pro803=)
c.787+4003T>G (n.787+4003T>G)
c.2430T>G (p.Pro810=)
8g.54626292C>ACA370993735RP1c.2410C>A (p.His804Asn)
c.787+4004C>A (n.787+4004C>A)
c.2431C>A (p.His811Asn)
8g.54626292C=CA1785188249RP1c.2410C= (p.His804=)
c.787+4004C= (n.787+4004C=)
c.2431C= (p.His811=)
8g.54626292C>GCA370993737RP1c.2410C>G (p.His804Asp)
c.787+4004C>G (n.787+4004C>G)
c.2431C>G (p.His811Asp)
8g.54626292C>TCA4751527RP1c.2410C>T (p.His804Tyr)
c.787+4004C>T (n.787+4004C>T)
c.2431C>T (p.His811Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626293A>CCA370993739RP1c.2411A>C (p.His804Pro)
c.787+4005A>C (n.787+4005A>C)
c.2432A>C (p.His811Pro)
 dbSNP
8g.54626293A>GCA370993740RP1c.2411A>G (p.His804Arg)
c.787+4005A>G (n.787+4005A>G)
c.2432A>G (p.His811Arg)
 gnomAD v4
8g.54626293A>TCA370993742RP1c.2411A>T (p.His804Leu)
c.787+4005A>T (n.787+4005A>T)
c.2432A>T (p.His811Leu)
8g.54626294C>ACA370993744RP1c.2412C>A (p.His804Gln)
c.787+4006C>A (n.787+4006C>A)
c.2433C>A (p.His811Gln)
 ClinVar
8g.54626294C>GCA370993745RP1c.2412C>G (p.His804Gln)
c.787+4006C>G (n.787+4006C>G)
c.2433C>G (p.His811Gln)
8g.54626294C>TCA461098772RP1c.2412C>T (p.His804=)
c.787+4006C>T (n.787+4006C>T)
c.2433C>T (p.His811=)
8g.54626295A=CA1785188250RP1c.2413A= (p.Asn805=)
c.787+4007A= (n.787+4007A=)
c.2434A= (p.Asn812=)
8g.54626295A>CCA370993748RP1c.2413A>C (p.Asn805His)
c.787+4007A>C (n.787+4007A>C)
c.2434A>C (p.Asn812His)
8g.54626295A>GCA4751528RP1c.2413A>G (p.Asn805Asp)
c.787+4007A>G (n.787+4007A>G)
c.2434A>G (p.Asn812Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626295A>TCA370993750RP1c.2413A>T (p.Asn805Tyr)
c.787+4007A>T (n.787+4007A>T)
c.2434A>T (p.Asn812Tyr)
8g.54626296A=CA1785188251RP1c.2414A= (p.Asn805=)
c.787+4008A= (n.787+4008A=)
c.2435A= (p.Asn812=)
8g.54626296A>CCA370993755RP1c.2414A>C (p.Asn805Thr)
c.787+4008A>C (n.787+4008A>C)
c.2435A>C (p.Asn812Thr)
8g.54626296A>GCA370993754RP1c.2414A>G (p.Asn805Ser)
c.787+4008A>G (n.787+4008A>G)
c.2435A>G (p.Asn812Ser)
 dbSNP gnomAD v2 gnomAD v4
8g.54626296A>TCA370993752RP1c.2414A>T (p.Asn805Ile)
c.787+4008A>T (n.787+4008A>T)
c.2435A>T (p.Asn812Ile)
8g.54626297T>ACA370993757RP1c.2415T>A (p.Asn805Lys)
c.787+4009T>A (n.787+4009T>A)
c.2436T>A (p.Asn812Lys)
 gnomAD v4
8g.54626297T>CCA461098773RP1c.2415T>C (p.Asn805=)
c.787+4009T>C (n.787+4009T>C)
c.2436T>C (p.Asn812=)
8g.54626297T>GCA370993759RP1c.2415T>G (p.Asn805Lys)
c.787+4009T>G (n.787+4009T>G)
c.2436T>G (p.Asn812Lys)
8g.54626298G>ACA370993761RP1c.2416G>A (p.Glu806Lys)
c.787+4010G>A (n.787+4010G>A)
c.2437G>A (p.Glu813Lys)
 COSMIC
8g.54626298G>CCA370993762RP1c.2416G>C (p.Glu806Gln)
c.787+4010G>C (n.787+4010G>C)
c.2437G>C (p.Glu813Gln)
8g.54626298G>TCA370993763RP1c.2416G>T (p.Glu806Ter)
c.787+4010G>T (n.787+4010G>T)
c.2437G>T (p.Glu813Ter)
8g.54626299A=CA1785188252RP1c.2417A= (p.Glu806=)
c.787+4011A= (n.787+4011A=)
c.2438A= (p.Glu813=)
8g.54626299A>CCA370993764RP1c.2417A>C (p.Glu806Ala)
c.787+4011A>C (n.787+4011A>C)
c.2438A>C (p.Glu813Ala)
8g.54626299A>GCA370993766RP1c.2417A>G (p.Glu806Gly)
c.787+4011A>G (n.787+4011A>G)
c.2438A>G (p.Glu813Gly)
8g.54626299A>TCA4751529RP1c.2417A>T (p.Glu806Val)
c.787+4011A>T (n.787+4011A>T)
c.2438A>T (p.Glu813Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626300A=CA1785188253RP1c.2418A= (p.Glu806=)
c.787+4012A= (n.787+4012A=)
c.2439A= (p.Glu813=)
8g.54626300A>CCA370993769RP1c.2418A>C (p.Glu806Asp)
c.787+4012A>C (n.787+4012A>C)
c.2439A>C (p.Glu813Asp)
8g.54626300A>GCA461098775RP1c.2418A>G (p.Glu806=)
c.787+4012A>G (n.787+4012A>G)
c.2439A>G (p.Glu813=)
 dbSNP gnomAD v4
8g.54626300A>TCA370993770RP1c.2418A>T (p.Glu806Asp)
c.787+4012A>T (n.787+4012A>T)
c.2439A>T (p.Glu813Asp)
8g.54626301T>ACA370993772RP1c.2419T>A (p.Ser807Thr)
c.787+4013T>A (n.787+4013T>A)
c.2440T>A (p.Ser814Thr)
8g.54626301T>CCA370993774RP1c.2419T>C (p.Ser807Pro)
c.787+4013T>C (n.787+4013T>C)
c.2440T>C (p.Ser814Pro)
8g.54626301T>GCA370993776RP1c.2419T>G (p.Ser807Ala)
c.787+4013T>G (n.787+4013T>G)
c.2440T>G (p.Ser814Ala)
8g.54626302C>ACA370993781RP1c.2420C>A (p.Ser807Tyr)
c.787+4014C>A (n.787+4014C>A)
c.2441C>A (p.Ser814Tyr)
8g.54626302C=CA1785188254RP1c.2420C= (p.Ser807=)
c.787+4014C= (n.787+4014C=)
c.2441C= (p.Ser814=)
8g.54626302C>GCA370993777RP1c.2420C>G (p.Ser807Cys)
c.787+4014C>G (n.787+4014C>G)
c.2441C>G (p.Ser814Cys)
8g.54626302C>TCA370993779RP1c.2420C>T (p.Ser807Phe)
c.787+4014C>T (n.787+4014C>T)
c.2441C>T (p.Ser814Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.54626303T>ACA461098780RP1c.2421T>A (p.Ser807=)
c.787+4015T>A (n.787+4015T>A)
c.2442T>A (p.Ser814=)
8g.54626303T>CCA177237160RP1c.2421T>C (p.Ser807=)
c.787+4015T>C (n.787+4015T>C)
c.2442T>C (p.Ser814=)
 dbSNP
8g.54626303T>GCA461098781RP1c.2421T>G (p.Ser807=)
c.787+4015T>G (n.787+4015T>G)
c.2442T>G (p.Ser814=)
8g.54626303T=CA1785188255RP1c.2421T= (p.Ser807=)
c.787+4015T= (n.787+4015T=)
c.2442T= (p.Ser814=)
8g.54626304A=CA1785188256RP1c.2422A= (p.Lys808=)
c.787+4016A= (n.787+4016A=)
c.2443A= (p.Lys815=)
8g.54626304A>CCA370993783RP1c.2422A>C (p.Lys808Gln)
c.787+4016A>C (n.787+4016A>C)
c.2443A>C (p.Lys815Gln)
8g.54626304A>GCA370993784RP1c.2422A>G (p.Lys808Glu)
c.787+4016A>G (n.787+4016A>G)
c.2443A>G (p.Lys815Glu)
8g.54626304A>TCA370993786RP1c.2422A>T (p.Lys808Ter)
c.787+4016A>T (n.787+4016A>T)
c.2443A>T (p.Lys815Ter)
 dbSNP
8g.54626305A>CCA370993787RP1c.2423A>C (p.Lys808Thr)
c.787+4017A>C (n.787+4017A>C)
c.2444A>C (p.Lys815Thr)
8g.54626305A>GCA370993789RP1c.2423A>G (p.Lys808Arg)
c.787+4017A>G (n.787+4017A>G)
c.2444A>G (p.Lys815Arg)
8g.54626305A>TCA370993790RP1c.2423A>T (p.Lys808Ile)
c.787+4017A>T (n.787+4017A>T)
c.2444A>T (p.Lys815Ile)
8g.54626306A>CCA370993791RP1c.2424A>C (p.Lys808Asn)
c.787+4018A>C (n.787+4018A>C)
c.2445A>C (p.Lys815Asn)
8g.54626306A>GCA461098784RP1c.2424A>G (p.Lys808=)
c.787+4018A>G (n.787+4018A>G)
c.2445A>G (p.Lys815=)
8g.54626306A>TCA370993792RP1c.2424A>T (p.Lys808Asn)
c.787+4018A>T (n.787+4018A>T)
c.2445A>T (p.Lys815Asn)
8g.54626307T>ACA370993793RP1c.2425T>A (p.Tyr809Asn)
c.787+4019T>A (n.787+4019T>A)
c.2446T>A (p.Tyr816Asn)
8g.54626307T>CCA370993795RP1c.2425T>C (p.Tyr809His)
c.787+4019T>C (n.787+4019T>C)
c.2446T>C (p.Tyr816His)
8g.54626307T>GCA370993797RP1c.2425T>G (p.Tyr809Asp)
c.787+4019T>G (n.787+4019T>G)
c.2446T>G (p.Tyr816Asp)
8g.54626308A>CCA370993802RP1c.2426A>C (p.Tyr809Ser)
c.787+4020A>C (n.787+4020A>C)
c.2447A>C (p.Tyr816Ser)
8g.54626308A>GCA370993800RP1c.2426A>G (p.Tyr809Cys)
c.787+4020A>G (n.787+4020A>G)
c.2447A>G (p.Tyr816Cys)
 gnomAD v4
8g.54626308A>TCA370993799RP1c.2426A>T (p.Tyr809Phe)
c.787+4020A>T (n.787+4020A>T)
c.2447A>T (p.Tyr816Phe)
8g.54626309T>ACA370993804RP1c.2427T>A (p.Tyr809Ter)
c.787+4021T>A (n.787+4021T>A)
c.2448T>A (p.Tyr816Ter)
8g.54626309T>CCA4751530RP1c.2427T>C (p.Tyr809=)
c.787+4021T>C (n.787+4021T>C)
c.2448T>C (p.Tyr816=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626309T>GCA370993806RP1c.2427T>G (p.Tyr809Ter)
c.787+4021T>G (n.787+4021T>G)
c.2448T>G (p.Tyr816Ter)
8g.54626309T=CA1785188257RP1c.2427T= (p.Tyr809=)
c.787+4021T= (n.787+4021T=)
c.2448T= (p.Tyr816=)
8g.54626310T>ACA370993807RP1c.2428T>A (p.Cys810Ser)
c.787+4022T>A (n.787+4022T>A)
c.2449T>A (p.Cys817Ser)
8g.54626310T>CCA370993809RP1c.2428T>C (p.Cys810Arg)
c.787+4022T>C (n.787+4022T>C)
c.2449T>C (p.Cys817Arg)
8g.54626310T>GCA370993811RP1c.2428T>G (p.Cys810Gly)
c.787+4022T>G (n.787+4022T>G)
c.2449T>G (p.Cys817Gly)
8g.54626310T=CA1785188258RP1c.2428T= (p.Cys810=)
c.787+4022T= (n.787+4022T=)
c.2449T= (p.Cys817=)
8g.54626311G>ACA370993815RP1c.2429G>A (p.Cys810Tyr)
c.787+4023G>A (n.787+4023G>A)
c.2450G>A (p.Cys817Tyr)
 dbSNP gnomAD v4
8g.54626311G>CCA370993812RP1c.2429G>C (p.Cys810Ser)
c.787+4023G>C (n.787+4023G>C)
c.2450G>C (p.Cys817Ser)
8g.54626311G=CA1785188259RP1c.2429G= (p.Cys810=)
c.787+4023G= (n.787+4023G=)
c.2450G= (p.Cys817=)
8g.54626311G>TCA370993814RP1c.2429G>T (p.Cys810Phe)
c.787+4023G>T (n.787+4023G>T)
c.2450G>T (p.Cys817Phe)
8g.54626311_54626328dupCA1785188260RP1c.2429_2446dup (p.Glu815_Asn816insSerLysSerThrPheGlu)
c.787+4023_787+4040dup (n.787+4023_787+4040dup)
c.2450_2467dup (p.Glu822_Asn823insSerLysSerThrPheGlu)
 dbSNP
8g.54626312C>ACA370993818RP1c.2430C>A (p.Cys810Ter)
c.787+4024C>A (n.787+4024C>A)
c.2451C>A (p.Cys817Ter)
 ClinVar dbSNP
8g.54626312C=CA1785188261RP1c.2430C= (p.Cys810=)
c.787+4024C= (n.787+4024C=)
c.2451C= (p.Cys817=)
8g.54626312C>GCA370993819RP1c.2430C>G (p.Cys810Trp)
c.787+4024C>G (n.787+4024C>G)
c.2451C>G (p.Cys817Trp)
8g.54626312C>TCA461098792RP1c.2430C>T (p.Cys810=)
c.787+4024C>T (n.787+4024C>T)
c.2451C>T (p.Cys817=)
 dbSNP gnomAD v2 gnomAD v4
8g.54626313A=CA1785188262RP1c.2431A= (p.Lys811=)
c.787+4025A= (n.787+4025A=)
c.2452A= (p.Lys818=)
8g.54626313A>CCA370993821RP1c.2431A>C (p.Lys811Gln)
c.787+4025A>C (n.787+4025A>C)
c.2452A>C (p.Lys818Gln)
8g.54626313A>GCA4751531RP1c.2431A>G (p.Lys811Glu)
c.787+4025A>G (n.787+4025A>G)
c.2452A>G (p.Lys818Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626313A>TCA370993823RP1c.2431A>T (p.Lys811Ter)
c.787+4025A>T (n.787+4025A>T)
c.2452A>T (p.Lys818Ter)
8g.54626316delCA2695209286RP1c.2434del (p.Ser812ValfsTer?)
c.787+4028del (n.787+4028del)
c.2455del (p.Ser819ValfsTer?)
8g.54626314A=CA1785188263RP1c.2432A= (p.Lys811=)
c.787+4026A= (n.787+4026A=)
c.2453A= (p.Lys818=)
8g.54626314A>CCA370993827RP1c.2432A>C (p.Lys811Thr)
c.787+4026A>C (n.787+4026A>C)
c.2453A>C (p.Lys818Thr)
 gnomAD v4
8g.54626314A>GCA177237167RP1c.2432A>G (p.Lys811Arg)
c.787+4026A>G (n.787+4026A>G)
c.2453A>G (p.Lys818Arg)
 ClinVar dbSNP gnomAD v4
8g.54626314A>TCA370993826RP1c.2432A>T (p.Lys811Ile)
c.787+4026A>T (n.787+4026A>T)
c.2453A>T (p.Lys818Ile)
 gnomAD v4
8g.54626315A>CCA370993830RP1c.2433A>C (p.Lys811Asn)
c.787+4027A>C (n.787+4027A>C)
c.2454A>C (p.Lys818Asn)
8g.54626315A>GCA461098794RP1c.2433A>G (p.Lys811=)
c.787+4027A>G (n.787+4027A>G)
c.2454A>G (p.Lys818=)
8g.54626315A>TCA370993831RP1c.2433A>T (p.Lys811Asn)
c.787+4027A>T (n.787+4027A>T)
c.2454A>T (p.Lys818Asn)
8g.54626316A>CCA370993833RP1c.2434A>C (p.Ser812Arg)
c.787+4028A>C (n.787+4028A>C)
c.2455A>C (p.Ser819Arg)
8g.54626316A>GCA370993834RP1c.2434A>G (p.Ser812Gly)
c.787+4028A>G (n.787+4028A>G)
c.2455A>G (p.Ser819Gly)
8g.54626316A>TCA370993835RP1c.2434A>T (p.Ser812Cys)
c.787+4028A>T (n.787+4028A>T)
c.2455A>T (p.Ser819Cys)
8g.54626317G>ACA370993836RP1c.2435G>A (p.Ser812Asn)
c.787+4029G>A (n.787+4029G>A)
c.2456G>A (p.Ser819Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626317G>CCA370993837RP1c.2435G>C (p.Ser812Thr)
c.787+4029G>C (n.787+4029G>C)
c.2456G>C (p.Ser819Thr)
8g.54626317G=CA1785188264RP1c.2435G= (p.Ser812=)
c.787+4029G= (n.787+4029G=)
c.2456G= (p.Ser819=)
8g.54626317G>TCA370993838RP1c.2435G>T (p.Ser812Ile)
c.787+4029G>T (n.787+4029G>T)
c.2456G>T (p.Ser819Ile)
8g.54626318T>ACA370993839RP1c.2436T>A (p.Ser812Arg)
c.787+4030T>A (n.787+4030T>A)
c.2457T>A (p.Ser819Arg)
8g.54626318T>CCA461098798RP1c.2436T>C (p.Ser812=)
c.787+4030T>C (n.787+4030T>C)
c.2457T>C (p.Ser819=)
 gnomAD v4
8g.54626318T>GCA370993840RP1c.2436T>G (p.Ser812Arg)
c.787+4030T>G (n.787+4030T>G)
c.2457T>G (p.Ser819Arg)
8g.54626319A=CA1785188265RP1c.2437A= (p.Thr813=)
c.787+4031A= (n.787+4031A=)
c.2458A= (p.Thr820=)
8g.54626319A>CCA370993841RP1c.2437A>C (p.Thr813Pro)
c.787+4031A>C (n.787+4031A>C)
c.2458A>C (p.Thr820Pro)
8g.54626319A>GCA370993842RP1c.2437A>G (p.Thr813Ala)
c.787+4031A>G (n.787+4031A>G)
c.2458A>G (p.Thr820Ala)
 gnomAD v4
8g.54626319A>TCA370993843RP1c.2437A>T (p.Thr813Ser)
c.787+4031A>T (n.787+4031A>T)
c.2458A>T (p.Thr820Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.54626320C>ACA370993844RP1c.2438C>A (p.Thr813Asn)
c.787+4032C>A (n.787+4032C>A)
c.2459C>A (p.Thr820Asn)
8g.54626320C=CA1785188266RP1c.2438C= (p.Thr813=)
c.787+4032C= (n.787+4032C=)
c.2459C= (p.Thr820=)
8g.54626320C>GCA370993845RP1c.2438C>G (p.Thr813Ser)
c.787+4032C>G (n.787+4032C>G)
c.2459C>G (p.Thr820Ser)
 dbSNP
8g.54626320C>TCA4751532RP1c.2438C>T (p.Thr813Ile)
c.787+4032C>T (n.787+4032C>T)
c.2459C>T (p.Thr820Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626321T>ACA461098803RP1c.2439T>A (p.Thr813=)
c.787+4033T>A (n.787+4033T>A)
c.2460T>A (p.Thr820=)
8g.54626321T>CCA461098804RP1c.2439T>C (p.Thr813=)
c.787+4033T>C (n.787+4033T>C)
c.2460T>C (p.Thr820=)
8g.54626321T>GCA461098805RP1c.2439T>G (p.Thr813=)
c.787+4033T>G (n.787+4033T>G)
c.2460T>G (p.Thr820=)
8g.54626322T>ACA370993846RP1c.2440T>A (p.Phe814Ile)
c.787+4034T>A (n.787+4034T>A)
c.2461T>A (p.Phe821Ile)
8g.54626322T>CCA370993847RP1c.2440T>C (p.Phe814Leu)
c.787+4034T>C (n.787+4034T>C)
c.2461T>C (p.Phe821Leu)
8g.54626322T>GCA370993848RP1c.2440T>G (p.Phe814Val)
c.787+4034T>G (n.787+4034T>G)
c.2461T>G (p.Phe821Val)
8g.54626323T>ACA370993849RP1c.2441T>A (p.Phe814Tyr)
c.787+4035T>A (n.787+4035T>A)
c.2462T>A (p.Phe821Tyr)
 dbSNP gnomAD v3 gnomAD v4
8g.54626323T>CCA370993850RP1c.2441T>C (p.Phe814Ser)
c.787+4035T>C (n.787+4035T>C)
c.2462T>C (p.Phe821Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626323T>GCA370993851RP1c.2441T>G (p.Phe814Cys)
c.787+4035T>G (n.787+4035T>G)
c.2462T>G (p.Phe821Cys)
8g.54626323T=CA1785188267RP1c.2441T= (p.Phe814=)
c.787+4035T= (n.787+4035T=)
c.2462T= (p.Phe821=)
8g.54626324T>ACA370993852RP1c.2442T>A (p.Phe814Leu)
c.787+4036T>A (n.787+4036T>A)
c.2463T>A (p.Phe821Leu)
8g.54626324T>CCA461098811RP1c.2442T>C (p.Phe814=)
c.787+4036T>C (n.787+4036T>C)
c.2463T>C (p.Phe821=)
8g.54626324T>GCA370993853RP1c.2442T>G (p.Phe814Leu)
c.787+4036T>G (n.787+4036T>G)
c.2463T>G (p.Phe821Leu)
8g.54626325delCA2687301832RP1c.2443del (p.Glu815LysfsTer?)
c.787+4037del (n.787+4037del)
c.2464del (p.Glu822LysfsTer?)
 gnomAD v4
8g.54626325G>ACA4751533RP1c.2443G>A (p.Glu815Lys)
c.787+4037G>A (n.787+4037G>A)
c.2464G>A (p.Glu822Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626325G>CCA370993854RP1c.2443G>C (p.Glu815Gln)
c.787+4037G>C (n.787+4037G>C)
c.2464G>C (p.Glu822Gln)
8g.54626325G=CA1785188268RP1c.2443G= (p.Glu815=)
c.787+4037G= (n.787+4037G=)
c.2464G= (p.Glu822=)
8g.54626325G>TCA370993855RP1c.2443G>T (p.Glu815Ter)
c.787+4037G>T (n.787+4037G>T)
c.2464G>T (p.Glu822Ter)
8g.54626326A=CA1785188269RP1c.2444A= (p.Glu815=)
c.787+4038A= (n.787+4038A=)
c.2465A= (p.Glu822=)
8g.54626326A>CCA370993856RP1c.2444A>C (p.Glu815Ala)
c.787+4038A>C (n.787+4038A>C)
c.2465A>C (p.Glu822Ala)
8g.54626326A>GCA370993857RP1c.2444A>G (p.Glu815Gly)
c.787+4038A>G (n.787+4038A>G)
c.2465A>G (p.Glu822Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.54626326A>TCA370993858RP1c.2444A>T (p.Glu815Val)
c.787+4038A>T (n.787+4038A>T)
c.2465A>T (p.Glu822Val)
8g.54626329dupCA2695209287RP1c.2447dup (p.Asn816LysfsTer9)
c.787+4041dup (n.787+4041dup)
c.2468dup (p.Asn823LysfsTer9)
8g.54626330_54626334delCA2687301833RP1c.2448_2452del (p.Asn816LysfsTer7)
c.787+4042_787+4046del (n.787+4042_787+4046del)
c.2469_2473del (p.Asn823LysfsTer7)
 gnomAD v4
8g.54626327A=CA1785188270RP1c.2445A= (p.Glu815=)
c.787+4039A= (n.787+4039A=)
c.2466A= (p.Glu822=)
8g.54626327A>CCA370993859RP1c.2445A>C (p.Glu815Asp)
c.787+4039A>C (n.787+4039A>C)
c.2466A>C (p.Glu822Asp)
8g.54626327A>GCA461098814RP1c.2445A>G (p.Glu815=)
c.787+4039A>G (n.787+4039A>G)
c.2466A>G (p.Glu822=)
 dbSNP gnomAD v3 gnomAD v4
8g.54626327A>TCA370993860RP1c.2445A>T (p.Glu815Asp)
c.787+4039A>T (n.787+4039A>T)
c.2466A>T (p.Glu822Asp)
8g.54626328A=CA1785188271RP1c.2446A= (p.Asn816=)
c.787+4040A= (n.787+4040A=)
c.2467A= (p.Asn823=)
8g.54626328A>CCA370993861RP1c.2446A>C (p.Asn816His)
c.787+4040A>C (n.787+4040A>C)
c.2467A>C (p.Asn823His)
8g.54626328A>GCA177237173RP1c.2446A>G (p.Asn816Asp)
c.787+4040A>G (n.787+4040A>G)
c.2467A>G (p.Asn823Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626328A>TCA370993862RP1c.2446A>T (p.Asn816Tyr)
c.787+4040A>T (n.787+4040A>T)
c.2467A>T (p.Asn823Tyr)
8g.54626329A=CA1785188272RP1c.2447A= (p.Asn816=)
c.787+4041A= (n.787+4041A=)
c.2468A= (p.Asn823=)
8g.54626329A>CCA370993863RP1c.2447A>C (p.Asn816Thr)
c.787+4041A>C (n.787+4041A>C)
c.2468A>C (p.Asn823Thr)
8g.54626329A>GCA4751534RP1c.2447A>G (p.Asn816Ser)
c.787+4041A>G (n.787+4041A>G)
c.2468A>G (p.Asn823Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.54626329A>TCA370993864RP1c.2447A>T (p.Asn816Ile)
c.787+4041A>T (n.787+4041A>T)
c.2468A>T (p.Asn823Ile)
8g.54626330C>ACA370993865RP1c.2448C>A (p.Asn816Lys)
c.787+4042C>A (n.787+4042C>A)
c.2469C>A (p.Asn823Lys)
 gnomAD v4
8g.54626330C>GCA370993866RP1c.2448C>G (p.Asn816Lys)
c.787+4042C>G (n.787+4042C>G)
c.2469C>G (p.Asn823Lys)
8g.54626330C>TCA461098820RP1c.2448C>T (p.Asn816=)
c.787+4042C>T (n.787+4042C>T)
c.2469C>T (p.Asn823=)
8g.54626331A=CA1785188273RP1c.2449A= (p.Lys817=)
c.787+4043A= (n.787+4043A=)
c.2470A= (p.Lys824=)
8g.54626331A>CCA370993867RP1c.2449A>C (p.Lys817Gln)
c.787+4043A>C (n.787+4043A>C)
c.2470A>C (p.Lys824Gln)
8g.54626331A>GCA4751535RP1c.2449A>G (p.Lys817Glu)
c.787+4043A>G (n.787+4043A>G)
c.2470A>G (p.Lys824Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626331A>TCA370993868RP1c.2449A>T (p.Lys817Ter)
c.787+4043A>T (n.787+4043A>T)
c.2470A>T (p.Lys824Ter)
8g.54626333_54626334delCA2695209288RP1c.2451_2452del (p.Ser818PhefsTer6)
c.787+4045_787+4046del (n.787+4045_787+4046del)
c.2472_2473del (p.Ser825PhefsTer6)
8g.54626332A=CA1785188274RP1c.2450A= (p.Lys817=)
c.787+4044A= (n.787+4044A=)
c.2471A= (p.Lys824=)
8g.54626332A>CCA370993870RP1c.2450A>C (p.Lys817Thr)
c.787+4044A>C (n.787+4044A>C)
c.2471A>C (p.Lys824Thr)
8g.54626332A>GCA4751536RP1c.2450A>G (p.Lys817Arg)
c.787+4044A>G (n.787+4044A>G)
c.2471A>G (p.Lys824Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626332A>TCA370993869RP1c.2450A>T (p.Lys817Ile)
c.787+4044A>T (n.787+4044A>T)
c.2471A>T (p.Lys824Ile)
8g.54626333A>CCA370993871RP1c.2451A>C (p.Lys817Asn)
c.787+4045A>C (n.787+4045A>C)
c.2472A>C (p.Lys824Asn)
8g.54626333A>GCA461098824RP1c.2451A>G (p.Lys817=)
c.787+4045A>G (n.787+4045A>G)
c.2472A>G (p.Lys824=)
8g.54626333A>TCA370993872RP1c.2451A>T (p.Lys817Asn)
c.787+4045A>T (n.787+4045A>T)
c.2472A>T (p.Lys824Asn)
8g.54626334A>CCA370993873RP1c.2452A>C (p.Ser818Arg)
c.787+4046A>C (n.787+4046A>C)
c.2473A>C (p.Ser825Arg)
8g.54626334A>GCA370993875RP1c.2452A>G (p.Ser818Gly)
c.787+4046A>G (n.787+4046A>G)
c.2473A>G (p.Ser825Gly)
8g.54626334A>TCA370993874RP1c.2452A>T (p.Ser818Cys)
c.787+4046A>T (n.787+4046A>T)
c.2473A>T (p.Ser825Cys)
8g.54626335G>ACA370993876RP1c.2453G>A (p.Ser818Asn)
c.787+4047G>A (n.787+4047G>A)
c.2474G>A (p.Ser825Asn)
8g.54626335G>CCA370993878RP1c.2453G>C (p.Ser818Thr)
c.787+4047G>C (n.787+4047G>C)
c.2474G>C (p.Ser825Thr)
8g.54626335G>TCA370993877RP1c.2453G>T (p.Ser818Ile)
c.787+4047G>T (n.787+4047G>T)
c.2474G>T (p.Ser825Ile)
 ClinVar dbSNP
8g.54626336T>ACA370993879RP1c.2454T>A (p.Ser818Arg)
c.787+4048T>A (n.787+4048T>A)
c.2475T>A (p.Ser825Arg)
8g.54626336T>CCA177237183RP1c.2454T>C (p.Ser818=)
c.787+4048T>C (n.787+4048T>C)
c.2475T>C (p.Ser825=)
 dbSNP gnomAD v4
8g.54626336T>GCA370993880RP1c.2454T>G (p.Ser818Arg)
c.787+4048T>G (n.787+4048T>G)
c.2475T>G (p.Ser825Arg)
8g.54626336T=CA1785188275RP1c.2454T= (p.Ser818=)
c.787+4048T= (n.787+4048T=)
c.2475T= (p.Ser825=)
8g.54626338delCA2580078392RP1c.2456del (p.Leu819TyrfsTer29)
c.787+4050del (n.787+4050del)
c.2477del (p.Leu826TyrfsTer29)
 ClinVar gnomAD v4
8g.54626337T>ACA370993881RP1c.2455T>A (p.Leu819Ile)
c.787+4049T>A (n.787+4049T>A)
c.2476T>A (p.Leu826Ile)
8g.54626337T>CCA461098828RP1c.2455T>C (p.Leu819=)
c.787+4049T>C (n.787+4049T>C)
c.2476T>C (p.Leu826=)
8g.54626337T>GCA4751537RP1c.2455T>G (p.Leu819Val)
c.787+4049T>G (n.787+4049T>G)
c.2476T>G (p.Leu826Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626337T=CA1785188276RP1c.2455T= (p.Leu819=)
c.787+4049T= (n.787+4049T=)
c.2476T= (p.Leu826=)
8g.54626338T>ACA370993882RP1c.2456T>A (p.Leu819Ter)
c.787+4050T>A (n.787+4050T>A)
c.2477T>A (p.Leu826Ter)
 COSMIC
8g.54626338T>CCA370993883RP1c.2456T>C (p.Leu819Ser)
c.787+4050T>C (n.787+4050T>C)
c.2477T>C (p.Leu826Ser)
8g.54626338T>GCA370993884RP1c.2456T>G (p.Leu819Ter)
c.787+4050T>G (n.787+4050T>G)
c.2477T>G (p.Leu826Ter)
8g.54626339delCA2687301834RP1c.2457del (p.Leu819PhefsTer29)
c.787+4051del (n.787+4051del)
c.2478del (p.Leu826PhefsTer29)
 gnomAD v4
8g.54626339A=CA1785188277RP1c.2457A= (p.Leu819=)
c.787+4051A= (n.787+4051A=)
c.2478A= (p.Leu826=)
8g.54626339A>CCA370993885RP1c.2457A>C (p.Leu819Phe)
c.787+4051A>C (n.787+4051A>C)
c.2478A>C (p.Leu826Phe)
8g.54626339A>GCA461098829RP1c.2457A>G (p.Leu819=)
c.787+4051A>G (n.787+4051A>G)
c.2478A>G (p.Leu826=)
8g.54626339A>TCA370993886RP1c.2457A>T (p.Leu819Phe)
c.787+4051A>T (n.787+4051A>T)
c.2478A>T (p.Leu826Phe)
8g.54626340T>ACA370993887RP1c.2458T>A (p.Phe820Ile)
c.787+4052T>A (n.787+4052T>A)
c.2479T>A (p.Phe827Ile)
8g.54626340T>CCA370993888RP1c.2458T>C (p.Phe820Leu)
c.787+4052T>C (n.787+4052T>C)
c.2479T>C (p.Phe827Leu)
8g.54626340T>GCA370993889RP1c.2458T>G (p.Phe820Val)
c.787+4052T>G (n.787+4052T>G)
c.2479T>G (p.Phe827Val)
8g.54626342dupCA177237187RP1c.2460dup (p.His821SerfsTer4)
c.787+4054dup (n.787+4054dup)
c.2481dup (p.His828SerfsTer4)
 dbSNP
8g.54626341T>ACA370993892RP1c.2459T>A (p.Phe820Tyr)
c.787+4053T>A (n.787+4053T>A)
c.2480T>A (p.Phe827Tyr)
8g.54626341T>CCA370993891RP1c.2459T>C (p.Phe820Ser)
c.787+4053T>C (n.787+4053T>C)
c.2480T>C (p.Phe827Ser)
 dbSNP gnomAD v3 gnomAD v4
8g.54626341T>GCA370993890RP1c.2459T>G (p.Phe820Cys)
c.787+4053T>G (n.787+4053T>G)
c.2480T>G (p.Phe827Cys)
8g.54626341T=CA1785188278RP1c.2459T= (p.Phe820=)
c.787+4053T= (n.787+4053T=)
c.2480T= (p.Phe827=)
8g.54626342T>ACA370993893RP1c.2460T>A (p.Phe820Leu)
c.787+4054T>A (n.787+4054T>A)
c.2481T>A (p.Phe827Leu)
8g.54626342T>CCA461098834RP1c.2460T>C (p.Phe820=)
c.787+4054T>C (n.787+4054T>C)
c.2481T>C (p.Phe827=)
8g.54626342T>GCA370993894RP1c.2460T>G (p.Phe820Leu)
c.787+4054T>G (n.787+4054T>G)
c.2481T>G (p.Phe827Leu)
8g.54626343C>ACA370993895RP1c.2461C>A (p.His821Asn)
c.787+4055C>A (n.787+4055C>A)
c.2482C>A (p.His828Asn)
8g.54626343C>GCA370993896RP1c.2461C>G (p.His821Asp)
c.787+4055C>G (n.787+4055C>G)
c.2482C>G (p.His828Asp)
8g.54626343C>TCA370993897RP1c.2461C>T (p.His821Tyr)
c.787+4055C>T (n.787+4055C>T)
c.2482C>T (p.His828Tyr)
 COSMIC
8g.54626344A>CCA370993898RP1c.2462A>C (p.His821Pro)
c.787+4056A>C (n.787+4056A>C)
c.2483A>C (p.His828Pro)
8g.54626344A>GCA370993899RP1c.2462A>G (p.His821Arg)
c.787+4056A>G (n.787+4056A>G)
c.2483A>G (p.His828Arg)
8g.54626344A>TCA370993900RP1c.2462A>T (p.His821Leu)
c.787+4056A>T (n.787+4056A>T)
c.2483A>T (p.His828Leu)
8g.54626345T>ACA370993901RP1c.2463T>A (p.His821Gln)
c.787+4057T>A (n.787+4057T>A)
c.2484T>A (p.His828Gln)
8g.54626345T>CCA4751538RP1c.2463T>C (p.His821=)
c.787+4057T>C (n.787+4057T>C)
c.2484T>C (p.His828=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626345T>GCA370993902RP1c.2463T>G (p.His821Gln)
c.787+4057T>G (n.787+4057T>G)
c.2484T>G (p.His828Gln)
8g.54626345T=CA1785188279RP1c.2463T= (p.His821=)
c.787+4057T= (n.787+4057T=)
c.2484T= (p.His828=)
8g.54626346G>ACA177237191RP1c.2464G>A (p.Val822Ile)
c.787+4058G>A (n.787+4058G>A)
c.2485G>A (p.Val829Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.54626346G>CCA370993904RP1c.2464G>C (p.Val822Leu)
c.787+4058G>C (n.787+4058G>C)
c.2485G>C (p.Val829Leu)
8g.54626346G=CA1785188280RP1c.2464G= (p.Val822=)
c.787+4058G= (n.787+4058G=)
c.2485G= (p.Val829=)
8g.54626346G>TCA370993903RP1c.2464G>T (p.Val822Leu)
c.787+4058G>T (n.787+4058G>T)
c.2485G>T (p.Val829Leu)
8g.54626347T>ACA4751539RP1c.2465T>A (p.Val822Glu)
c.787+4059T>A (n.787+4059T>A)
c.2486T>A (p.Val829Glu)
 dbSNP ExAC gnomAD v4
8g.54626347T>CCA370993905RP1c.2465T>C (p.Val822Ala)
c.787+4059T>C (n.787+4059T>C)
c.2486T>C (p.Val829Ala)
8g.54626347T>GCA370993906RP1c.2465T>G (p.Val822Gly)
c.787+4059T>G (n.787+4059T>G)
c.2486T>G (p.Val829Gly)
8g.54626347T=CA1785188281RP1c.2465T= (p.Val822=)
c.787+4059T= (n.787+4059T=)
c.2486T= (p.Val829=)
8g.54626348A>CCA461098839RP1c.2466A>C (p.Val822=)
c.787+4060A>C (n.787+4060A>C)
c.2487A>C (p.Val829=)
8g.54626348A>GCA461098840RP1c.2466A>G (p.Val822=)
c.787+4060A>G (n.787+4060A>G)
c.2487A>G (p.Val829=)
 gnomAD v4
8g.54626348A>TCA461098841RP1c.2466A>T (p.Val822=)
c.787+4060A>T (n.787+4060A>T)
c.2487A>T (p.Val829=)
8g.54626349T>ACA370993907RP1c.2467T>A (p.Phe823Ile)
c.787+4061T>A (n.787+4061T>A)
c.2488T>A (p.Phe830Ile)
8g.54626349T>CCA370993908RP1c.2467T>C (p.Phe823Leu)
c.787+4061T>C (n.787+4061T>C)
c.2488T>C (p.Phe830Leu)
8g.54626349T>GCA370993909RP1c.2467T>G (p.Phe823Val)
c.787+4061T>G (n.787+4061T>G)
c.2488T>G (p.Phe830Val)
8g.54626350T>ACA370993910RP1c.2468T>A (p.Phe823Tyr)
c.787+4062T>A (n.787+4062T>A)
c.2489T>A (p.Phe830Tyr)
8g.54626350T>CCA370993911RP1c.2468T>C (p.Phe823Ser)
c.787+4062T>C (n.787+4062T>C)
c.2489T>C (p.Phe830Ser)
8g.54626350T>GCA370993912RP1c.2468T>G (p.Phe823Cys)
c.787+4062T>G (n.787+4062T>G)
c.2489T>G (p.Phe830Cys)
8g.54626351T>ACA370993913RP1c.2469T>A (p.Phe823Leu)
c.787+4063T>A (n.787+4063T>A)
c.2490T>A (p.Phe830Leu)
8g.54626351T>CCA461098844RP1c.2469T>C (p.Phe823=)
c.787+4063T>C (n.787+4063T>C)
c.2490T>C (p.Phe830=)
8g.54626351T>GCA370993914RP1c.2469T>G (p.Phe823Leu)
c.787+4063T>G (n.787+4063T>G)
c.2490T>G (p.Phe830Leu)
8g.54626352A>CCA370993917RP1c.2470A>C (p.Asn824His)
c.787+4064A>C (n.787+4064A>C)
c.2491A>C (p.Asn831His)
8g.54626352A>GCA370993916RP1c.2470A>G (p.Asn824Asp)
c.787+4064A>G (n.787+4064A>G)
c.2491A>G (p.Asn831Asp)
8g.54626352A>TCA370993915RP1c.2470A>T (p.Asn824Tyr)
c.787+4064A>T (n.787+4064A>T)
c.2491A>T (p.Asn831Tyr)
 gnomAD v4
8g.54626353A=CA1785188282RP1c.2471A= (p.Asn824=)
c.787+4065A= (n.787+4065A=)
c.2492A= (p.Asn831=)
8g.54626353A>CCA370993918RP1c.2471A>C (p.Asn824Thr)
c.787+4065A>C (n.787+4065A>C)
c.2492A>C (p.Asn831Thr)
8g.54626353A>GCA4751540RP1c.2471A>G (p.Asn824Ser)
c.787+4065A>G (n.787+4065A>G)
c.2492A>G (p.Asn831Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626353A>TCA370993919RP1c.2471A>T (p.Asn824Ile)
c.787+4065A>T (n.787+4065A>T)
c.2492A>T (p.Asn831Ile)
8g.54626354C>ACA370993920RP1c.2472C>A (p.Asn824Lys)
c.787+4066C>A (n.787+4066C>A)
c.2493C>A (p.Asn831Lys)
 gnomAD v4
8g.54626354C=CA1785188283RP1c.2472C= (p.Asn824=)
c.787+4066C= (n.787+4066C=)
c.2493C= (p.Asn831=)
8g.54626354C>GCA370993921RP1c.2472C>G (p.Asn824Lys)
c.787+4066C>G (n.787+4066C>G)
c.2493C>G (p.Asn831Lys)
8g.54626354C>TCA461098849RP1c.2472C>T (p.Asn824=)
c.787+4066C>T (n.787+4066C>T)
c.2493C>T (p.Asn831=)
 dbSNP gnomAD v3 gnomAD v4
8g.54626355delCA2687301835RP1c.2473del (p.Ile825SerfsTer23)
c.787+4067del (n.787+4067del)
c.2494del (p.Ile832SerfsTer23)
 gnomAD v4
8g.54626355A=CA1785188284RP1c.2473A= (p.Ile825=)
c.787+4067A= (n.787+4067A=)
c.2494A= (p.Ile832=)
8g.54626355A>CCA370993922RP1c.2473A>C (p.Ile825Leu)
c.787+4067A>C (n.787+4067A>C)
c.2494A>C (p.Ile832Leu)
8g.54626355A>GCA370993923RP1c.2473A>G (p.Ile825Val)
c.787+4067A>G (n.787+4067A>G)
c.2494A>G (p.Ile832Val)
8g.54626355A>TCA4751541RP1c.2473A>T (p.Ile825Phe)
c.787+4067A>T (n.787+4067A>T)
c.2494A>T (p.Ile832Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626355_54626356delinsTACA2580078393RP1c.2473_2474delinsTA (p.Ile825Tyr)
c.787+4067_787+4068delinsTA (n.787+4067_787+4068delinsTA)
c.2494_2495delinsTA (p.Ile832Tyr)
 ClinVar
8g.54626356T>ACA4751542RP1c.2474T>A (p.Ile825Asn)
c.787+4068T>A (n.787+4068T>A)
c.2495T>A (p.Ile832Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626356T>CCA370993924RP1c.2474T>C (p.Ile825Thr)
c.787+4068T>C (n.787+4068T>C)
c.2495T>C (p.Ile832Thr)
 gnomAD v4
8g.54626356T>GCA370993925RP1c.2474T>G (p.Ile825Ser)
c.787+4068T>G (n.787+4068T>G)
c.2495T>G (p.Ile832Ser)
8g.54626356T=CA1785188285RP1c.2474T= (p.Ile825=)
c.787+4068T= (n.787+4068T=)
c.2495T= (p.Ile832=)
8g.54626357C>ACA461098853RP1c.2475C>A (p.Ile825=)
c.787+4069C>A (n.787+4069C>A)
c.2496C>A (p.Ile832=)
8g.54626357C>GCA370993926RP1c.2475C>G (p.Ile825Met)
c.787+4069C>G (n.787+4069C>G)
c.2496C>G (p.Ile832Met)
8g.54626357C>TCA461098856RP1c.2475C>T (p.Ile825=)
c.787+4069C>T (n.787+4069C>T)
c.2496C>T (p.Ile832=)
 gnomAD v4 COSMIC
8g.54626358_54626364delCA2687301836RP1c.2476_2482del (p.Leu826LysfsTer20)
c.787+4070_787+4076del (n.787+4070_787+4076del)
c.2497_2503del (p.Leu833LysfsTer20)
 gnomAD v4
8g.54626358C>ACA370993929RP1c.2476C>A (p.Leu826Ile)
c.787+4070C>A (n.787+4070C>A)
c.2497C>A (p.Leu833Ile)
8g.54626358C>GCA370993928RP1c.2476C>G (p.Leu826Val)
c.787+4070C>G (n.787+4070C>G)
c.2497C>G (p.Leu833Val)
8g.54626358C>TCA370993927RP1c.2476C>T (p.Leu826Phe)
c.787+4070C>T (n.787+4070C>T)
c.2497C>T (p.Leu833Phe)
8g.54626359T>ACA370993930RP1c.2477T>A (p.Leu826His)
c.787+4071T>A (n.787+4071T>A)
c.2498T>A (p.Leu833His)
8g.54626359T>CCA370993932RP1c.2477T>C (p.Leu826Pro)
c.787+4071T>C (n.787+4071T>C)
c.2498T>C (p.Leu833Pro)
8g.54626359T>GCA370993931RP1c.2477T>G (p.Leu826Arg)
c.787+4071T>G (n.787+4071T>G)
c.2498T>G (p.Leu833Arg)
8g.54626360T>ACA461098859RP1c.2478T>A (p.Leu826=)
c.787+4072T>A (n.787+4072T>A)
c.2499T>A (p.Leu833=)
8g.54626360T>CCA177237201RP1c.2478T>C (p.Leu826=)
c.787+4072T>C (n.787+4072T>C)
c.2499T>C (p.Leu833=)
 ClinVar dbSNP
8g.54626360T>GCA461098861RP1c.2478T>G (p.Leu826=)
c.787+4072T>G (n.787+4072T>G)
c.2499T>G (p.Leu833=)
8g.54626360T=CA1785188286RP1c.2478T= (p.Leu826=)
c.787+4072T= (n.787+4072T=)
c.2499T= (p.Leu833=)
8g.54626361G>ACA370993933RP1c.2479G>A (p.Glu827Lys)
c.787+4073G>A (n.787+4073G>A)
c.2500G>A (p.Glu834Lys)
8g.54626361G>CCA4751543RP1c.2479G>C (p.Glu827Gln)
c.787+4073G>C (n.787+4073G>C)
c.2500G>C (p.Glu834Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.54626361G=CA1785188287RP1c.2479G= (p.Glu827=)
c.787+4073G= (n.787+4073G=)
c.2500G= (p.Glu834=)
8g.54626361G>TCA370993934RP1c.2479G>T (p.Glu827Ter)
c.787+4073G>T (n.787+4073G>T)
c.2500G>T (p.Glu834Ter)
 gnomAD v4

Number of alleles fetched