Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.5618549_5618620dupCA2669800460EVC2c.2564_2635dup (p.Gln878_Gln879insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln)
c.2324_2395dup (p.Gln798_Gln799insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln)
c.*957_*1028dup (n.*957_*1028dup)
c.2573_2644dup (p.Gln881_Gln882insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln)
c.2333_2404dup (p.Gln801_Gln802insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln)
c.884_955dup (p.Gln318_Gln319insLeuHisGlyCysPheAlaGlnMetAspArgSerLeuAlaLeuProLysIleArgAlaArgValLeuLeuGln)
n.2629_2700dup
gnomAD v4
4g.5618598C>ACA356143481EVC2c.2586G>T (p.Met862Ile)
c.2346G>T (p.Met782Ile)
c.*979G>T (n.*979G>T)
c.2595G>T (p.Met865Ile)
c.2355G>T (p.Met785Ile)
c.906G>T (p.Met302Ile)
n.2651G>T
4g.5618598C>GCA356143484EVC2c.2586G>C (p.Met862Ile)
c.2346G>C (p.Met782Ile)
c.*979G>C (n.*979G>C)
c.2595G>C (p.Met865Ile)
c.2355G>C (p.Met785Ile)
c.906G>C (p.Met302Ile)
n.2651G>C
gnomAD v4 COSMIC COSMIC
4g.5618598C>TCA356143483EVC2c.2586G>A (p.Met862Ile)
c.2346G>A (p.Met782Ile)
c.*979G>A (n.*979G>A)
c.2595G>A (p.Met865Ile)
c.2355G>A (p.Met785Ile)
c.906G>A (p.Met302Ile)
n.2651G>A
4g.5618599A>CCA356143486EVC2c.2585T>G (p.Met862Arg)
c.2345T>G (p.Met782Arg)
c.*978T>G (n.*978T>G)
c.2594T>G (p.Met865Arg)
c.2354T>G (p.Met785Arg)
c.905T>G (p.Met302Arg)
n.2650T>G
4g.5618599A>GCA356143488EVC2c.2585T>C (p.Met862Thr)
c.2345T>C (p.Met782Thr)
c.*978T>C (n.*978T>C)
c.2594T>C (p.Met865Thr)
c.2354T>C (p.Met785Thr)
c.905T>C (p.Met302Thr)
n.2650T>C
4g.5618599A>TCA356143490EVC2c.2585T>A (p.Met862Lys)
c.2345T>A (p.Met782Lys)
c.*978T>A (n.*978T>A)
c.2594T>A (p.Met865Lys)
c.2354T>A (p.Met785Lys)
c.905T>A (p.Met302Lys)
n.2650T>A
ClinVar
4g.5618600T>ACA356143491EVC2c.2584A>T (p.Met862Leu)
c.2344A>T (p.Met782Leu)
c.*977A>T (n.*977A>T)
c.2593A>T (p.Met865Leu)
c.2353A>T (p.Met785Leu)
c.904A>T (p.Met302Leu)
n.2649A>T
4g.5618600T>CCA356143492EVC2c.2584A>G (p.Met862Val)
c.2344A>G (p.Met782Val)
c.*977A>G (n.*977A>G)
c.2593A>G (p.Met865Val)
c.2353A>G (p.Met785Val)
c.904A>G (p.Met302Val)
n.2649A>G
dbSNP
4g.5618600T>GCA356143494EVC2c.2584A>C (p.Met862Leu)
c.2344A>C (p.Met782Leu)
c.*977A>C (n.*977A>C)
c.2593A>C (p.Met865Leu)
c.2353A>C (p.Met785Leu)
c.904A>C (p.Met302Leu)
n.2649A>C
4g.5618600T=CA1435421714EVC2c.2584A= (p.Met862=)
c.2344A= (p.Met782=)
c.*977A= (n.*977A=)
c.2593A= (p.Met865=)
c.2353A= (p.Met785=)
c.904A= (p.Met302=)
n.2649A=
4g.5618601C>ACA356143496EVC2c.2583G>T (p.Gln861His)
c.2343G>T (p.Gln781His)
c.*976G>T (n.*976G>T)
c.2592G>T (p.Gln864His)
c.2352G>T (p.Gln784His)
c.903G>T (p.Gln301His)
n.2648G>T
4g.5618601C>GCA356143497EVC2c.2583G>C (p.Gln861His)
c.2343G>C (p.Gln781His)
c.*976G>C (n.*976G>C)
c.2592G>C (p.Gln864His)
c.2352G>C (p.Gln784His)
c.903G>C (p.Gln301His)
n.2648G>C
4g.5618601C>TCA438203847EVC2c.2583G>A (p.Gln861=)
c.2343G>A (p.Gln781=)
c.*976G>A (n.*976G>A)
c.2592G>A (p.Gln864=)
c.2352G>A (p.Gln784=)
c.903G>A (p.Gln301=)
n.2648G>A
ClinVar
4g.5618602T>ACA356143498EVC2c.2582A>T (p.Gln861Leu)
c.2342A>T (p.Gln781Leu)
c.*975A>T (n.*975A>T)
c.2591A>T (p.Gln864Leu)
c.2351A>T (p.Gln784Leu)
c.902A>T (p.Gln301Leu)
n.2647A>T
4g.5618602T>CCA356143500EVC2c.2582A>G (p.Gln861Arg)
c.2342A>G (p.Gln781Arg)
c.*975A>G (n.*975A>G)
c.2591A>G (p.Gln864Arg)
c.2351A>G (p.Gln784Arg)
c.902A>G (p.Gln301Arg)
n.2647A>G
gnomAD v4
4g.5618602T>GCA356143502EVC2c.2582A>C (p.Gln861Pro)
c.2342A>C (p.Gln781Pro)
c.*975A>C (n.*975A>C)
c.2591A>C (p.Gln864Pro)
c.2351A>C (p.Gln784Pro)
c.902A>C (p.Gln301Pro)
n.2647A>C
4g.5618603G>ACA356143505EVC2c.2581C>T (p.Gln861Ter)
c.2341C>T (p.Gln781Ter)
c.*974C>T (n.*974C>T)
c.2590C>T (p.Gln864Ter)
c.2350C>T (p.Gln784Ter)
c.901C>T (p.Gln301Ter)
n.2646C>T
gnomAD v4 COSMIC COSMIC
4g.5618603G>CCA356143506EVC2c.2581C>G (p.Gln861Glu)
c.2341C>G (p.Gln781Glu)
c.*974C>G (n.*974C>G)
c.2590C>G (p.Gln864Glu)
c.2350C>G (p.Gln784Glu)
c.901C>G (p.Gln301Glu)
n.2646C>G
4g.5618603G>TCA356143503EVC2c.2581C>A (p.Gln861Lys)
c.2341C>A (p.Gln781Lys)
c.*974C>A (n.*974C>A)
c.2590C>A (p.Gln864Lys)
c.2350C>A (p.Gln784Lys)
c.901C>A (p.Gln301Lys)
n.2646C>A
4g.5618604A>CCA438203848EVC2c.2580T>G (p.Ala860=)
c.2340T>G (p.Ala780=)
c.*973T>G (n.*973T>G)
c.2589T>G (p.Ala863=)
c.2349T>G (p.Ala783=)
c.900T>G (p.Ala300=)
n.2645T>G
4g.5618604A>GCA438203849EVC2c.2580T>C (p.Ala860=)
c.2340T>C (p.Ala780=)
c.*973T>C (n.*973T>C)
c.2589T>C (p.Ala863=)
c.2349T>C (p.Ala783=)
c.900T>C (p.Ala300=)
n.2645T>C
gnomAD v4
4g.5618604A>TCA438203850EVC2c.2580T>A (p.Ala860=)
c.2340T>A (p.Ala780=)
c.*973T>A (n.*973T>A)
c.2589T>A (p.Ala863=)
c.2349T>A (p.Ala783=)
c.900T>A (p.Ala300=)
n.2645T>A
4g.5618605G>ACA2834662EVC2c.2579C>T (p.Ala860Val)
c.2339C>T (p.Ala780Val)
c.*972C>T (n.*972C>T)
c.2588C>T (p.Ala863Val)
c.2348C>T (p.Ala783Val)
c.899C>T (p.Ala300Val)
n.2644C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.5618605G>CCA356143508EVC2c.2579C>G (p.Ala860Gly)
c.2339C>G (p.Ala780Gly)
c.*972C>G (n.*972C>G)
c.2588C>G (p.Ala863Gly)
c.2348C>G (p.Ala783Gly)
c.899C>G (p.Ala300Gly)
n.2644C>G
4g.5618605G=CA1435421718EVC2c.2579C= (p.Ala860=)
c.2339C= (p.Ala780=)
c.*972C= (n.*972C=)
c.2588C= (p.Ala863=)
c.2348C= (p.Ala783=)
c.899C= (p.Ala300=)
n.2644C=
4g.5618605G>TCA356143510EVC2c.2579C>A (p.Ala860Asp)
c.2339C>A (p.Ala780Asp)
c.*972C>A (n.*972C>A)
c.2588C>A (p.Ala863Asp)
c.2348C>A (p.Ala783Asp)
c.899C>A (p.Ala300Asp)
n.2644C>A
4g.5618606C>ACA356143511EVC2c.2578G>T (p.Ala860Ser)
c.2338G>T (p.Ala780Ser)
c.*971G>T (n.*971G>T)
c.2587G>T (p.Ala863Ser)
c.2347G>T (p.Ala783Ser)
c.898G>T (p.Ala300Ser)
n.2643G>T
dbSNP
4g.5618606C>GCA356143512EVC2c.2578G>C (p.Ala860Pro)
c.2338G>C (p.Ala780Pro)
c.*971G>C (n.*971G>C)
c.2587G>C (p.Ala863Pro)
c.2347G>C (p.Ala783Pro)
c.898G>C (p.Ala300Pro)
n.2643G>C
4g.5618606C>TCA356143513EVC2c.2578G>A (p.Ala860Thr)
c.2338G>A (p.Ala780Thr)
c.*971G>A (n.*971G>A)
c.2587G>A (p.Ala863Thr)
c.2347G>A (p.Ala783Thr)
c.898G>A (p.Ala300Thr)
n.2643G>A
gnomAD v4
4g.5618607A>CCA356143515EVC2c.2577T>G (p.Phe859Leu)
c.2337T>G (p.Phe779Leu)
c.*970T>G (n.*970T>G)
c.2586T>G (p.Phe862Leu)
c.2346T>G (p.Phe782Leu)
c.897T>G (p.Phe299Leu)
n.2642T>G
4g.5618607A>GCA438203851EVC2c.2577T>C (p.Phe859=)
c.2337T>C (p.Phe779=)
c.*970T>C (n.*970T>C)
c.2586T>C (p.Phe862=)
c.2346T>C (p.Phe782=)
c.897T>C (p.Phe299=)
n.2642T>C
4g.5618607A>TCA356143516EVC2c.2577T>A (p.Phe859Leu)
c.2337T>A (p.Phe779Leu)
c.*970T>A (n.*970T>A)
c.2586T>A (p.Phe862Leu)
c.2346T>A (p.Phe782Leu)
c.897T>A (p.Phe299Leu)
n.2642T>A
4g.5618608A>CCA356143517EVC2c.2576T>G (p.Phe859Cys)
c.2336T>G (p.Phe779Cys)
c.*969T>G (n.*969T>G)
c.2585T>G (p.Phe862Cys)
c.2345T>G (p.Phe782Cys)
c.896T>G (p.Phe299Cys)
n.2641T>G
4g.5618608A>GCA356143518EVC2c.2576T>C (p.Phe859Ser)
c.2336T>C (p.Phe779Ser)
c.*969T>C (n.*969T>C)
c.2585T>C (p.Phe862Ser)
c.2345T>C (p.Phe782Ser)
c.896T>C (p.Phe299Ser)
n.2641T>C
4g.5618608A>TCA356143519EVC2c.2576T>A (p.Phe859Tyr)
c.2336T>A (p.Phe779Tyr)
c.*969T>A (n.*969T>A)
c.2585T>A (p.Phe862Tyr)
c.2345T>A (p.Phe782Tyr)
c.896T>A (p.Phe299Tyr)
n.2641T>A
4g.5618609A=CA1435421722EVC2c.2575T= (p.Phe859=)
c.2335T= (p.Phe779=)
c.*968T= (n.*968T=)
c.2584T= (p.Phe862=)
c.2344T= (p.Phe782=)
c.895T= (p.Phe299=)
n.2640T=
4g.5618609A>CCA356143520EVC2c.2575T>G (p.Phe859Val)
c.2335T>G (p.Phe779Val)
c.*968T>G (n.*968T>G)
c.2584T>G (p.Phe862Val)
c.2344T>G (p.Phe782Val)
c.895T>G (p.Phe299Val)
n.2640T>G
4g.5618609A>GCA2834663EVC2c.2575T>C (p.Phe859Leu)
c.2335T>C (p.Phe779Leu)
c.*968T>C (n.*968T>C)
c.2584T>C (p.Phe862Leu)
c.2344T>C (p.Phe782Leu)
c.895T>C (p.Phe299Leu)
n.2640T>C
dbSNP ExAC gnomAD v3 gnomAD v4
4g.5618609A>TCA356143521EVC2c.2575T>A (p.Phe859Ile)
c.2335T>A (p.Phe779Ile)
c.*968T>A (n.*968T>A)
c.2584T>A (p.Phe862Ile)
c.2344T>A (p.Phe782Ile)
c.895T>A (p.Phe299Ile)
n.2640T>A
4g.5618610G>ACA438203852EVC2c.2574C>T (p.Cys858=)
c.2334C>T (p.Cys778=)
c.*967C>T (n.*967C>T)
c.2583C>T (p.Cys861=)
c.2343C>T (p.Cys781=)
c.894C>T (p.Cys298=)
n.2639C>T
dbSNP gnomAD v2
4g.5618610G>CCA356143522EVC2c.2574C>G (p.Cys858Trp)
c.2334C>G (p.Cys778Trp)
c.*967C>G (n.*967C>G)
c.2583C>G (p.Cys861Trp)
c.2343C>G (p.Cys781Trp)
c.894C>G (p.Cys298Trp)
n.2639C>G
gnomAD v4
4g.5618610G=CA1435421728EVC2c.2574C= (p.Cys858=)
c.2334C= (p.Cys778=)
c.*967C= (n.*967C=)
c.2583C= (p.Cys861=)
c.2343C= (p.Cys781=)
c.894C= (p.Cys298=)
n.2639C=
4g.5618610G>TCA356143523EVC2c.2574C>A (p.Cys858Ter)
c.2334C>A (p.Cys778Ter)
c.*967C>A (n.*967C>A)
c.2583C>A (p.Cys861Ter)
c.2343C>A (p.Cys781Ter)
c.894C>A (p.Cys298Ter)
n.2639C>A
4g.5618611C>ACA356143525EVC2c.2573G>T (p.Cys858Phe)
c.2333G>T (p.Cys778Phe)
c.*966G>T (n.*966G>T)
c.2582G>T (p.Cys861Phe)
c.2342G>T (p.Cys781Phe)
c.893G>T (p.Cys298Phe)
n.2638G>T
4g.5618611C=CA1435421732EVC2c.2573G= (p.Cys858=)
c.2333G= (p.Cys778=)
c.*966G= (n.*966G=)
c.2582G= (p.Cys861=)
c.2342G= (p.Cys781=)
c.893G= (p.Cys298=)
n.2638G=
4g.5618611C>GCA2834664EVC2c.2573G>C (p.Cys858Ser)
c.2333G>C (p.Cys778Ser)
c.*966G>C (n.*966G>C)
c.2582G>C (p.Cys861Ser)
c.2342G>C (p.Cys781Ser)
c.893G>C (p.Cys298Ser)
n.2638G>C
dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618611C>TCA356143524EVC2c.2573G>A (p.Cys858Tyr)
c.2333G>A (p.Cys778Tyr)
c.*966G>A (n.*966G>A)
c.2582G>A (p.Cys861Tyr)
c.2342G>A (p.Cys781Tyr)
c.893G>A (p.Cys298Tyr)
n.2638G>A
4g.5618612A=CA1435421735EVC2c.2572T= (p.Cys858=)
c.2332T= (p.Cys778=)
c.*965T= (n.*965T=)
c.2581T= (p.Cys861=)
c.2341T= (p.Cys781=)
c.892T= (p.Cys298=)
n.2637T=
4g.5618612A>CCA356143526EVC2c.2572T>G (p.Cys858Gly)
c.2332T>G (p.Cys778Gly)
c.*965T>G (n.*965T>G)
c.2581T>G (p.Cys861Gly)
c.2341T>G (p.Cys781Gly)
c.892T>G (p.Cys298Gly)
n.2637T>G
4g.5618612A>GCA356143527EVC2c.2572T>C (p.Cys858Arg)
c.2332T>C (p.Cys778Arg)
c.*965T>C (n.*965T>C)
c.2581T>C (p.Cys861Arg)
c.2341T>C (p.Cys781Arg)
c.892T>C (p.Cys298Arg)
n.2637T>C
4g.5618612A>TCA2834665EVC2c.2572T>A (p.Cys858Ser)
c.2332T>A (p.Cys778Ser)
c.*965T>A (n.*965T>A)
c.2581T>A (p.Cys861Ser)
c.2341T>A (p.Cys781Ser)
c.892T>A (p.Cys298Ser)
n.2637T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618613G>ACA2834666EVC2c.2571C>T (p.Gly857=)
c.2331C>T (p.Gly777=)
c.*964C>T (n.*964C>T)
c.2580C>T (p.Gly860=)
c.2340C>T (p.Gly780=)
c.891C>T (p.Gly297=)
n.2636C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618613G>CCA438203853EVC2c.2571C>G (p.Gly857=)
c.2331C>G (p.Gly777=)
c.*964C>G (n.*964C>G)
c.2580C>G (p.Gly860=)
c.2340C>G (p.Gly780=)
c.891C>G (p.Gly297=)
n.2636C>G
4g.5618613G=CA1435421740EVC2c.2571C= (p.Gly857=)
c.2331C= (p.Gly777=)
c.*964C= (n.*964C=)
c.2580C= (p.Gly860=)
c.2340C= (p.Gly780=)
c.891C= (p.Gly297=)
n.2636C=
4g.5618613G>TCA2834667EVC2c.2571C>A (p.Gly857=)
c.2331C>A (p.Gly777=)
c.*964C>A (n.*964C>A)
c.2580C>A (p.Gly860=)
c.2340C>A (p.Gly780=)
c.891C>A (p.Gly297=)
n.2636C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618614C>ACA356143528EVC2c.2570G>T (p.Gly857Val)
c.2330G>T (p.Gly777Val)
c.*963G>T (n.*963G>T)
c.2579G>T (p.Gly860Val)
c.2339G>T (p.Gly780Val)
c.890G>T (p.Gly297Val)
n.2635G>T
4g.5618614C>GCA356143529EVC2c.2570G>C (p.Gly857Ala)
c.2330G>C (p.Gly777Ala)
c.*963G>C (n.*963G>C)
c.2579G>C (p.Gly860Ala)
c.2339G>C (p.Gly780Ala)
c.890G>C (p.Gly297Ala)
n.2635G>C
4g.5618614C>TCA356143530EVC2c.2570G>A (p.Gly857Asp)
c.2330G>A (p.Gly777Asp)
c.*963G>A (n.*963G>A)
c.2579G>A (p.Gly860Asp)
c.2339G>A (p.Gly780Asp)
c.890G>A (p.Gly297Asp)
n.2635G>A
4g.5618615C>ACA356143531EVC2c.2569G>T (p.Gly857Cys)
c.2329G>T (p.Gly777Cys)
c.*962G>T (n.*962G>T)
c.2578G>T (p.Gly860Cys)
c.2338G>T (p.Gly780Cys)
c.889G>T (p.Gly297Cys)
n.2634G>T
4g.5618615C>GCA356143532EVC2c.2569G>C (p.Gly857Arg)
c.2329G>C (p.Gly777Arg)
c.*962G>C (n.*962G>C)
c.2578G>C (p.Gly860Arg)
c.2338G>C (p.Gly780Arg)
c.889G>C (p.Gly297Arg)
n.2634G>C
4g.5618615C>TCA356143533EVC2c.2569G>A (p.Gly857Ser)
c.2329G>A (p.Gly777Ser)
c.*962G>A (n.*962G>A)
c.2578G>A (p.Gly860Ser)
c.2338G>A (p.Gly780Ser)
c.889G>A (p.Gly297Ser)
n.2634G>A
4g.5618616A=CA1435421746EVC2c.2568T= (p.His856=)
c.2328T= (p.His776=)
c.*961T= (n.*961T=)
c.2577T= (p.His859=)
c.2337T= (p.His779=)
c.888T= (p.His296=)
n.2633T=
4g.5618616A>CCA356143534EVC2c.2568T>G (p.His856Gln)
c.2328T>G (p.His776Gln)
c.*961T>G (n.*961T>G)
c.2577T>G (p.His859Gln)
c.2337T>G (p.His779Gln)
c.888T>G (p.His296Gln)
n.2633T>G
4g.5618616A>GCA2834668EVC2c.2568T>C (p.His856=)
c.2328T>C (p.His776=)
c.*961T>C (n.*961T>C)
c.2577T>C (p.His859=)
c.2337T>C (p.His779=)
c.888T>C (p.His296=)
n.2633T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618616A>TCA356143535EVC2c.2568T>A (p.His856Gln)
c.2328T>A (p.His776Gln)
c.*961T>A (n.*961T>A)
c.2577T>A (p.His859Gln)
c.2337T>A (p.His779Gln)
c.888T>A (p.His296Gln)
n.2633T>A
dbSNP gnomAD v2 gnomAD v4
4g.5618617T>ACA356143537EVC2c.2567A>T (p.His856Leu)
c.2327A>T (p.His776Leu)
c.*960A>T (n.*960A>T)
c.2576A>T (p.His859Leu)
c.2336A>T (p.His779Leu)
c.887A>T (p.His296Leu)
n.2632A>T
4g.5618617T>CCA2834669EVC2c.2567A>G (p.His856Arg)
c.2327A>G (p.His776Arg)
c.*960A>G (n.*960A>G)
c.2576A>G (p.His859Arg)
c.2336A>G (p.His779Arg)
c.887A>G (p.His296Arg)
n.2632A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618617T>GCA356143536EVC2c.2567A>C (p.His856Pro)
c.2327A>C (p.His776Pro)
c.*960A>C (n.*960A>C)
c.2576A>C (p.His859Pro)
c.2336A>C (p.His779Pro)
c.887A>C (p.His296Pro)
n.2632A>C
4g.5618617T=CA1435421749EVC2c.2567A= (p.His856=)
c.2327A= (p.His776=)
c.*960A= (n.*960A=)
c.2576A= (p.His859=)
c.2336A= (p.His779=)
c.887A= (p.His296=)
n.2632A=
4g.5618618G>ACA356143538EVC2c.2566C>T (p.His856Tyr)
c.2326C>T (p.His776Tyr)
c.*959C>T (n.*959C>T)
c.2575C>T (p.His859Tyr)
c.2335C>T (p.His779Tyr)
c.886C>T (p.His296Tyr)
n.2631C>T
4g.5618618G>CCA356143539EVC2c.2566C>G (p.His856Asp)
c.2326C>G (p.His776Asp)
c.*959C>G (n.*959C>G)
c.2575C>G (p.His859Asp)
c.2335C>G (p.His779Asp)
c.886C>G (p.His296Asp)
n.2631C>G
4g.5618618G>TCA356143540EVC2c.2566C>A (p.His856Asn)
c.2326C>A (p.His776Asn)
c.*959C>A (n.*959C>A)
c.2575C>A (p.His859Asn)
c.2335C>A (p.His779Asn)
c.886C>A (p.His296Asn)
n.2631C>A
4g.5618619G>ACA438203854EVC2c.2565C>T (p.Val855=)
c.2325C>T (p.Val775=)
c.*958C>T (n.*958C>T)
c.2574C>T (p.Val858=)
c.2334C>T (p.Val778=)
c.885C>T (p.Val295=)
n.2630C>T
4g.5618619G>CCA438203855EVC2c.2565C>G (p.Val855=)
c.2325C>G (p.Val775=)
c.*958C>G (n.*958C>G)
c.2574C>G (p.Val858=)
c.2334C>G (p.Val778=)
c.885C>G (p.Val295=)
n.2630C>G
4g.5618619G>TCA438203856EVC2c.2565C>A (p.Val855=)
c.2325C>A (p.Val775=)
c.*958C>A (n.*958C>A)
c.2574C>A (p.Val858=)
c.2334C>A (p.Val778=)
c.885C>A (p.Val295=)
n.2630C>A
4g.5618620A=CA1435421752EVC2c.2564T= (p.Val855=)
c.2324T= (p.Val775=)
c.*957T= (n.*957T=)
c.2573T= (p.Val858=)
c.2333T= (p.Val778=)
c.884T= (p.Val295=)
n.2629T=
4g.5618620A>CCA356143541EVC2c.2564T>G (p.Val855Gly)
c.2324T>G (p.Val775Gly)
c.*957T>G (n.*957T>G)
c.2573T>G (p.Val858Gly)
c.2333T>G (p.Val778Gly)
c.884T>G (p.Val295Gly)
n.2629T>G
4g.5618620A>GCA356143542EVC2c.2564T>C (p.Val855Ala)
c.2324T>C (p.Val775Ala)
c.*957T>C (n.*957T>C)
c.2573T>C (p.Val858Ala)
c.2333T>C (p.Val778Ala)
c.884T>C (p.Val295Ala)
n.2629T>C
dbSNP
4g.5618620A>TCA356143543EVC2c.2564T>A (p.Val855Asp)
c.2324T>A (p.Val775Asp)
c.*957T>A (n.*957T>A)
c.2573T>A (p.Val858Asp)
c.2333T>A (p.Val778Asp)
c.884T>A (p.Val295Asp)
n.2629T>A
4g.5618621C>ACA356143544EVC2c.2563G>T (p.Val855Phe)
c.2323G>T (p.Val775Phe)
c.*956G>T (n.*956G>T)
c.2572G>T (p.Val858Phe)
c.2332G>T (p.Val778Phe)
c.883G>T (p.Val295Phe)
n.2628G>T
gnomAD v4
4g.5618621C>GCA356143545EVC2c.2563G>C (p.Val855Leu)
c.2323G>C (p.Val775Leu)
c.*956G>C (n.*956G>C)
c.2572G>C (p.Val858Leu)
c.2332G>C (p.Val778Leu)
c.883G>C (p.Val295Leu)
n.2628G>C
4g.5618621C>TCA356143546EVC2c.2563G>A (p.Val855Ile)
c.2323G>A (p.Val775Ile)
c.*956G>A (n.*956G>A)
c.2572G>A (p.Val858Ile)
c.2332G>A (p.Val778Ile)
c.883G>A (p.Val295Ile)
n.2628G>A
4g.5618622C>ACA356143547EVC2c.2562G>T (p.Glu854Asp)
c.2322G>T (p.Glu774Asp)
c.*955G>T (n.*955G>T)
c.2571G>T (p.Glu857Asp)
c.2331G>T (p.Glu777Asp)
c.882G>T (p.Glu294Asp)
n.2627G>T
4g.5618622C=CA1435421754EVC2c.2562G= (p.Glu854=)
c.2322G= (p.Glu774=)
c.*955G= (n.*955G=)
c.2571G= (p.Glu857=)
c.2331G= (p.Glu777=)
c.882G= (p.Glu294=)
n.2627G=
4g.5618622C>GCA356143548EVC2c.2562G>C (p.Glu854Asp)
c.2322G>C (p.Glu774Asp)
c.*955G>C (n.*955G>C)
c.2571G>C (p.Glu857Asp)
c.2331G>C (p.Glu777Asp)
c.882G>C (p.Glu294Asp)
n.2627G>C
4g.5618622C>TCA2834670EVC2c.2562G>A (p.Glu854=)
c.2322G>A (p.Glu774=)
c.*955G>A (n.*955G>A)
c.2571G>A (p.Glu857=)
c.2331G>A (p.Glu777=)
c.882G>A (p.Glu294=)
n.2627G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.5618623T>ACA356143551EVC2c.2561A>T (p.Glu854Val)
c.2321A>T (p.Glu774Val)
c.*954A>T (n.*954A>T)
c.2570A>T (p.Glu857Val)
c.2330A>T (p.Glu777Val)
c.881A>T (p.Glu294Val)
n.2626A>T
4g.5618623T>CCA356143549EVC2c.2561A>G (p.Glu854Gly)
c.2321A>G (p.Glu774Gly)
c.*954A>G (n.*954A>G)
c.2570A>G (p.Glu857Gly)
c.2330A>G (p.Glu777Gly)
c.881A>G (p.Glu294Gly)
n.2626A>G
4g.5618623T>GCA356143550EVC2c.2561A>C (p.Glu854Ala)
c.2321A>C (p.Glu774Ala)
c.*954A>C (n.*954A>C)
c.2570A>C (p.Glu857Ala)
c.2330A>C (p.Glu777Ala)
c.881A>C (p.Glu294Ala)
n.2626A>C
4g.5618624C>ACA356143552EVC2c.2560G>T (p.Glu854Ter)
c.2320G>T (p.Glu774Ter)
c.*953G>T (n.*953G>T)
c.2569G>T (p.Glu857Ter)
c.2329G>T (p.Glu777Ter)
c.880G>T (p.Glu294Ter)
n.2625G>T
gnomAD v4
4g.5618624C>GCA356143553EVC2c.2560G>C (p.Glu854Gln)
c.2320G>C (p.Glu774Gln)
c.*953G>C (n.*953G>C)
c.2569G>C (p.Glu857Gln)
c.2329G>C (p.Glu777Gln)
c.880G>C (p.Glu294Gln)
n.2625G>C
4g.5618624C>TCA356143554EVC2c.2560G>A (p.Glu854Lys)
c.2320G>A (p.Glu774Lys)
c.*953G>A (n.*953G>A)
c.2569G>A (p.Glu857Lys)
c.2329G>A (p.Glu777Lys)
c.880G>A (p.Glu294Lys)
n.2625G>A
4g.5618625C>ACA356143555EVC2c.2559G>T (p.Gln853His)
c.2319G>T (p.Gln773His)
c.*952G>T (n.*952G>T)
c.2568G>T (p.Gln856His)
c.2328G>T (p.Gln776His)
c.879G>T (p.Gln293His)
n.2624G>T
4g.5618625C>GCA356143556EVC2c.2559G>C (p.Gln853His)
c.2319G>C (p.Gln773His)
c.*952G>C (n.*952G>C)
c.2568G>C (p.Gln856His)
c.2328G>C (p.Gln776His)
c.879G>C (p.Gln293His)
n.2624G>C
4g.5618625C>TCA438203857EVC2c.2559G>A (p.Gln853=)
c.2319G>A (p.Gln773=)
c.*952G>A (n.*952G>A)
c.2568G>A (p.Gln856=)
c.2328G>A (p.Gln776=)
c.879G>A (p.Gln293=)
n.2624G>A
4g.5618626T>ACA356143557EVC2c.2558A>T (p.Gln853Leu)
c.2318A>T (p.Gln773Leu)
c.*951A>T (n.*951A>T)
c.2567A>T (p.Gln856Leu)
c.2327A>T (p.Gln776Leu)
c.878A>T (p.Gln293Leu)
n.2623A>T
4g.5618626T>CCA356143558EVC2c.2558A>G (p.Gln853Arg)
c.2318A>G (p.Gln773Arg)
c.*951A>G (n.*951A>G)
c.2567A>G (p.Gln856Arg)
c.2327A>G (p.Gln776Arg)
c.878A>G (p.Gln293Arg)
n.2623A>G
4g.5618626T>GCA356143559EVC2c.2558A>C (p.Gln853Pro)
c.2318A>C (p.Gln773Pro)
c.*951A>C (n.*951A>C)
c.2567A>C (p.Gln856Pro)
c.2327A>C (p.Gln776Pro)
c.878A>C (p.Gln293Pro)
n.2623A>C
4g.5618627G>ACA356143560EVC2c.2557C>T (p.Gln853Ter)
c.2317C>T (p.Gln773Ter)
c.*950C>T (n.*950C>T)
c.2566C>T (p.Gln856Ter)
c.2326C>T (p.Gln776Ter)
c.877C>T (p.Gln293Ter)
n.2622C>T
4g.5618627G>CCA356143561EVC2c.2557C>G (p.Gln853Glu)
c.2317C>G (p.Gln773Glu)
c.*950C>G (n.*950C>G)
c.2566C>G (p.Gln856Glu)
c.2326C>G (p.Gln776Glu)
c.877C>G (p.Gln293Glu)
n.2622C>G
4g.5618627G>TCA356143562EVC2c.2557C>A (p.Gln853Lys)
c.2317C>A (p.Gln773Lys)
c.*950C>A (n.*950C>A)
c.2566C>A (p.Gln856Lys)
c.2326C>A (p.Gln776Lys)
c.877C>A (p.Gln293Lys)
n.2622C>A
4g.5618628C>ACA356143564EVC2c.2556G>T (p.Arg852Ser)
c.2316G>T (p.Arg772Ser)
c.*949G>T (n.*949G>T)
c.2565G>T (p.Arg855Ser)
c.2325G>T (p.Arg775Ser)
c.876G>T (p.Arg292Ser)
n.2621G>T
4g.5618628C=CA1435421755EVC2c.2556G= (p.Arg852=)
c.2316G= (p.Arg772=)
c.*949G= (n.*949G=)
c.2565G= (p.Arg855=)
c.2325G= (p.Arg775=)
c.876G= (p.Arg292=)
n.2621G=
4g.5618628C>GCA356143563EVC2c.2556G>C (p.Arg852Ser)
c.2316G>C (p.Arg772Ser)
c.*949G>C (n.*949G>C)
c.2565G>C (p.Arg855Ser)
c.2325G>C (p.Arg775Ser)
c.876G>C (p.Arg292Ser)
n.2621G>C
gnomAD v4
4g.5618628C>TCA2834671EVC2c.2556G>A (p.Arg852=)
c.2316G>A (p.Arg772=)
c.*949G>A (n.*949G>A)
c.2565G>A (p.Arg855=)
c.2325G>A (p.Arg775=)
c.876G>A (p.Arg292=)
n.2621G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618629C>ACA356143565EVC2c.2555G>T (p.Arg852Met)
c.2315G>T (p.Arg772Met)
c.*948G>T (n.*948G>T)
c.2564G>T (p.Arg855Met)
c.2324G>T (p.Arg775Met)
c.875G>T (p.Arg292Met)
n.2620G>T
4g.5618629C>GCA356143567EVC2c.2555G>C (p.Arg852Thr)
c.2315G>C (p.Arg772Thr)
c.*948G>C (n.*948G>C)
c.2564G>C (p.Arg855Thr)
c.2324G>C (p.Arg775Thr)
c.875G>C (p.Arg292Thr)
n.2620G>C
4g.5618629C>TCA356143566EVC2c.2555G>A (p.Arg852Lys)
c.2315G>A (p.Arg772Lys)
c.*948G>A (n.*948G>A)
c.2564G>A (p.Arg855Lys)
c.2324G>A (p.Arg775Lys)
c.875G>A (p.Arg292Lys)
n.2620G>A
4g.5618630T>ACA91697182EVC2c.2554A>T (p.Arg852Trp)
c.2314A>T (p.Arg772Trp)
c.*947A>T (n.*947A>T)
c.2563A>T (p.Arg855Trp)
c.2323A>T (p.Arg775Trp)
c.874A>T (p.Arg292Trp)
n.2619A>T
dbSNP gnomAD v3 gnomAD v4
4g.5618630T>CCA356143568EVC2c.2554A>G (p.Arg852Gly)
c.2314A>G (p.Arg772Gly)
c.*947A>G (n.*947A>G)
c.2563A>G (p.Arg855Gly)
c.2323A>G (p.Arg775Gly)
c.874A>G (p.Arg292Gly)
n.2619A>G
4g.5618630T>GCA438203858EVC2c.2554A>C (p.Arg852=)
c.2314A>C (p.Arg772=)
c.*947A>C (n.*947A>C)
c.2563A>C (p.Arg855=)
c.2323A>C (p.Arg775=)
c.874A>C (p.Arg292=)
n.2619A>C
4g.5618630T=CA1435421757EVC2c.2554A= (p.Arg852=)
c.2314A= (p.Arg772=)
c.*947A= (n.*947A=)
c.2563A= (p.Arg855=)
c.2323A= (p.Arg775=)
c.874A= (p.Arg292=)
n.2619A=
4g.5618631C>ACA356143569EVC2c.2553G>T (p.Met851Ile)
c.2313G>T (p.Met771Ile)
c.*946G>T (n.*946G>T)
c.2562G>T (p.Met854Ile)
c.2322G>T (p.Met774Ile)
c.873G>T (p.Met291Ile)
n.2618G>T
gnomAD v4
4g.5618631C=CA1435421758EVC2c.2553G= (p.Met851=)
c.2313G= (p.Met771=)
c.*946G= (n.*946G=)
c.2562G= (p.Met854=)
c.2322G= (p.Met774=)
c.873G= (p.Met291=)
n.2618G=
4g.5618631C>GCA356143570EVC2c.2553G>C (p.Met851Ile)
c.2313G>C (p.Met771Ile)
c.*946G>C (n.*946G>C)
c.2562G>C (p.Met854Ile)
c.2322G>C (p.Met774Ile)
c.873G>C (p.Met291Ile)
n.2618G>C
COSMIC COSMIC
4g.5618631C>TCA91697187EVC2c.2553G>A (p.Met851Ile)
c.2313G>A (p.Met771Ile)
c.*946G>A (n.*946G>A)
c.2562G>A (p.Met854Ile)
c.2322G>A (p.Met774Ile)
c.873G>A (p.Met291Ile)
n.2618G>A
dbSNP gnomAD v3 gnomAD v4
4g.5618632A>CCA356143571EVC2c.2552T>G (p.Met851Arg)
c.2312T>G (p.Met771Arg)
c.*945T>G (n.*945T>G)
c.2561T>G (p.Met854Arg)
c.2321T>G (p.Met774Arg)
c.872T>G (p.Met291Arg)
n.2617T>G
4g.5618632A>GCA356143572EVC2c.2552T>C (p.Met851Thr)
c.2312T>C (p.Met771Thr)
c.*945T>C (n.*945T>C)
c.2561T>C (p.Met854Thr)
c.2321T>C (p.Met774Thr)
c.872T>C (p.Met291Thr)
n.2617T>C
4g.5618632A>TCA356143573EVC2c.2552T>A (p.Met851Lys)
c.2312T>A (p.Met771Lys)
c.*945T>A (n.*945T>A)
c.2561T>A (p.Met854Lys)
c.2321T>A (p.Met774Lys)
c.872T>A (p.Met291Lys)
n.2617T>A
4g.5618633T>ACA356143574EVC2c.2551A>T (p.Met851Leu)
c.2311A>T (p.Met771Leu)
c.*944A>T (n.*944A>T)
c.2560A>T (p.Met854Leu)
c.2320A>T (p.Met774Leu)
c.871A>T (p.Met291Leu)
n.2616A>T
4g.5618633T>CCA2834672EVC2c.2551A>G (p.Met851Val)
c.2311A>G (p.Met771Val)
c.*944A>G (n.*944A>G)
c.2560A>G (p.Met854Val)
c.2320A>G (p.Met774Val)
c.871A>G (p.Met291Val)
n.2616A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618633T>GCA356143575EVC2c.2551A>C (p.Met851Leu)
c.2311A>C (p.Met771Leu)
c.*944A>C (n.*944A>C)
c.2560A>C (p.Met854Leu)
c.2320A>C (p.Met774Leu)
c.871A>C (p.Met291Leu)
n.2616A>C
4g.5618633T=CA1435421763EVC2c.2551A= (p.Met851=)
c.2311A= (p.Met771=)
c.*944A= (n.*944A=)
c.2560A= (p.Met854=)
c.2320A= (p.Met774=)
c.871A= (p.Met291=)
n.2616A=
4g.5618634C>ACA356143577EVC2c.2550G>T (p.Arg850Ser)
c.2310G>T (p.Arg770Ser)
c.*943G>T (n.*943G>T)
c.2559G>T (p.Arg853Ser)
c.2319G>T (p.Arg773Ser)
c.870G>T (p.Arg290Ser)
n.2615G>T
4g.5618634C>GCA356143576EVC2c.2550G>C (p.Arg850Ser)
c.2310G>C (p.Arg770Ser)
c.*943G>C (n.*943G>C)
c.2559G>C (p.Arg853Ser)
c.2319G>C (p.Arg773Ser)
c.870G>C (p.Arg290Ser)
n.2615G>C
4g.5618634C>TCA438203859EVC2c.2550G>A (p.Arg850=)
c.2310G>A (p.Arg770=)
c.*943G>A (n.*943G>A)
c.2559G>A (p.Arg853=)
c.2319G>A (p.Arg773=)
c.870G>A (p.Arg290=)
n.2615G>A
4g.5618635C>ACA356143578EVC2c.2549G>T (p.Arg850Met)
c.2309G>T (p.Arg770Met)
c.*942G>T (n.*942G>T)
c.2558G>T (p.Arg853Met)
c.2318G>T (p.Arg773Met)
c.869G>T (p.Arg290Met)
n.2614G>T
4g.5618635C=CA1435421767EVC2c.2549G= (p.Arg850=)
c.2309G= (p.Arg770=)
c.*942G= (n.*942G=)
c.2558G= (p.Arg853=)
c.2318G= (p.Arg773=)
c.869G= (p.Arg290=)
n.2614G=
4g.5618635C>GCA356143579EVC2c.2549G>C (p.Arg850Thr)
c.2309G>C (p.Arg770Thr)
c.*942G>C (n.*942G>C)
c.2558G>C (p.Arg853Thr)
c.2318G>C (p.Arg773Thr)
c.869G>C (p.Arg290Thr)
n.2614G>C
4g.5618635C>TCA356143580EVC2c.2549G>A (p.Arg850Lys)
c.2309G>A (p.Arg770Lys)
c.*942G>A (n.*942G>A)
c.2558G>A (p.Arg853Lys)
c.2318G>A (p.Arg773Lys)
c.869G>A (p.Arg290Lys)
n.2614G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.5618636_5618645delCA2740091126EVC2c.2540_2549del (p.Glu847GlyfsTer2)
c.2300_2309del (p.Glu767GlyfsTer2)
c.*933_*942del (n.*933_*942del)
c.2549_2558del (p.Glu850GlyfsTer2)
c.2309_2318del (p.Glu770GlyfsTer2)
c.860_869del (p.Glu287GlyfsTer2)
n.2605_2614del
ClinVar
4g.5618636T>ACA356143581EVC2c.2548A>T (p.Arg850Trp)
c.2308A>T (p.Arg770Trp)
c.*941A>T (n.*941A>T)
c.2557A>T (p.Arg853Trp)
c.2317A>T (p.Arg773Trp)
c.868A>T (p.Arg290Trp)
n.2613A>T
4g.5618636T>CCA356143582EVC2c.2548A>G (p.Arg850Gly)
c.2308A>G (p.Arg770Gly)
c.*941A>G (n.*941A>G)
c.2557A>G (p.Arg853Gly)
c.2317A>G (p.Arg773Gly)
c.868A>G (p.Arg290Gly)
n.2613A>G
4g.5618636T>GCA438203860EVC2c.2548A>C (p.Arg850=)
c.2308A>C (p.Arg770=)
c.*941A>C (n.*941A>C)
c.2557A>C (p.Arg853=)
c.2317A>C (p.Arg773=)
c.868A>C (p.Arg290=)
n.2613A>C
4g.5618637G>ACA438203863EVC2c.2547C>T (p.Leu849=)
c.2307C>T (p.Leu769=)
c.*940C>T (n.*940C>T)
c.2556C>T (p.Leu852=)
c.2316C>T (p.Leu772=)
c.867C>T (p.Leu289=)
n.2612C>T
dbSNP gnomAD v2 gnomAD v4
4g.5618637G>CCA438203861EVC2c.2547C>G (p.Leu849=)
c.2307C>G (p.Leu769=)
c.*940C>G (n.*940C>G)
c.2556C>G (p.Leu852=)
c.2316C>G (p.Leu772=)
c.867C>G (p.Leu289=)
n.2612C>G
4g.5618637G=CA1435421769EVC2c.2547C= (p.Leu849=)
c.2307C= (p.Leu769=)
c.*940C= (n.*940C=)
c.2556C= (p.Leu852=)
c.2316C= (p.Leu772=)
c.867C= (p.Leu289=)
n.2612C=
4g.5618637G>TCA438203862EVC2c.2547C>A (p.Leu849=)
c.2307C>A (p.Leu769=)
c.*940C>A (n.*940C>A)
c.2556C>A (p.Leu852=)
c.2316C>A (p.Leu772=)
c.867C>A (p.Leu289=)
n.2612C>A
gnomAD v4
4g.5618638A>CCA356143583EVC2c.2546T>G (p.Leu849Arg)
c.2306T>G (p.Leu769Arg)
c.*939T>G (n.*939T>G)
c.2555T>G (p.Leu852Arg)
c.2315T>G (p.Leu772Arg)
c.866T>G (p.Leu289Arg)
n.2611T>G
4g.5618638A>GCA356143584EVC2c.2546T>C (p.Leu849Pro)
c.2306T>C (p.Leu769Pro)
c.*939T>C (n.*939T>C)
c.2555T>C (p.Leu852Pro)
c.2315T>C (p.Leu772Pro)
c.866T>C (p.Leu289Pro)
n.2611T>C
4g.5618638A>TCA356143585EVC2c.2546T>A (p.Leu849His)
c.2306T>A (p.Leu769His)
c.*939T>A (n.*939T>A)
c.2555T>A (p.Leu852His)
c.2315T>A (p.Leu772His)
c.866T>A (p.Leu289His)
n.2611T>A
4g.5618639G>ACA2834673EVC2c.2545C>T (p.Leu849Phe)
c.2305C>T (p.Leu769Phe)
c.*938C>T (n.*938C>T)
c.2554C>T (p.Leu852Phe)
c.2314C>T (p.Leu772Phe)
c.865C>T (p.Leu289Phe)
n.2610C>T
dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618639G>CCA356143586EVC2c.2545C>G (p.Leu849Val)
c.2305C>G (p.Leu769Val)
c.*938C>G (n.*938C>G)
c.2554C>G (p.Leu852Val)
c.2314C>G (p.Leu772Val)
c.865C>G (p.Leu289Val)
n.2610C>G
4g.5618639G=CA1435421771EVC2c.2545C= (p.Leu849=)
c.2305C= (p.Leu769=)
c.*938C= (n.*938C=)
c.2554C= (p.Leu852=)
c.2314C= (p.Leu772=)
c.865C= (p.Leu289=)
n.2610C=
4g.5618639G>TCA356143587EVC2c.2545C>A (p.Leu849Ile)
c.2305C>A (p.Leu769Ile)
c.*938C>A (n.*938C>A)
c.2554C>A (p.Leu852Ile)
c.2314C>A (p.Leu772Ile)
c.865C>A (p.Leu289Ile)
n.2610C>A
4g.5618640C>ACA438203864EVC2c.2544G>T (p.Leu848=)
c.2304G>T (p.Leu768=)
c.*937G>T (n.*937G>T)
c.2553G>T (p.Leu851=)
c.2313G>T (p.Leu771=)
c.864G>T (p.Leu288=)
n.2609G>T
dbSNP
4g.5618640C=CA1435421772EVC2c.2544G= (p.Leu848=)
c.2304G= (p.Leu768=)
c.*937G= (n.*937G=)
c.2553G= (p.Leu851=)
c.2313G= (p.Leu771=)
c.864G= (p.Leu288=)
n.2609G=
4g.5618640C>GCA438203865EVC2c.2544G>C (p.Leu848=)
c.2304G>C (p.Leu768=)
c.*937G>C (n.*937G>C)
c.2553G>C (p.Leu851=)
c.2313G>C (p.Leu771=)
c.864G>C (p.Leu288=)
n.2609G>C
ClinVar dbSNP
4g.5618640C>TCA2834674EVC2c.2544G>A (p.Leu848=)
c.2304G>A (p.Leu768=)
c.*937G>A (n.*937G>A)
c.2553G>A (p.Leu851=)
c.2313G>A (p.Leu771=)
c.864G>A (p.Leu288=)
n.2609G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618641A>CCA356143589EVC2c.2543T>G (p.Leu848Arg)
c.2303T>G (p.Leu768Arg)
c.*936T>G (n.*936T>G)
c.2552T>G (p.Leu851Arg)
c.2312T>G (p.Leu771Arg)
c.863T>G (p.Leu288Arg)
n.2608T>G
4g.5618641A>GCA356143590EVC2c.2543T>C (p.Leu848Pro)
c.2303T>C (p.Leu768Pro)
c.*936T>C (n.*936T>C)
c.2552T>C (p.Leu851Pro)
c.2312T>C (p.Leu771Pro)
c.863T>C (p.Leu288Pro)
n.2608T>C
4g.5618641A>TCA356143588EVC2c.2543T>A (p.Leu848Gln)
c.2303T>A (p.Leu768Gln)
c.*936T>A (n.*936T>A)
c.2552T>A (p.Leu851Gln)
c.2312T>A (p.Leu771Gln)
c.863T>A (p.Leu288Gln)
n.2608T>A
4g.5618642G>ACA438203866EVC2c.2542C>T (p.Leu848=)
c.2302C>T (p.Leu768=)
c.*935C>T (n.*935C>T)
c.2551C>T (p.Leu851=)
c.2311C>T (p.Leu771=)
c.862C>T (p.Leu288=)
n.2607C>T
ClinVar gnomAD v4
4g.5618642G>CCA356143591EVC2c.2542C>G (p.Leu848Val)
c.2302C>G (p.Leu768Val)
c.*935C>G (n.*935C>G)
c.2551C>G (p.Leu851Val)
c.2311C>G (p.Leu771Val)
c.862C>G (p.Leu288Val)
n.2607C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.5618642G=CA1435421775EVC2c.2542C= (p.Leu848=)
c.2302C= (p.Leu768=)
c.*935C= (n.*935C=)
c.2551C= (p.Leu851=)
c.2311C= (p.Leu771=)
c.862C= (p.Leu288=)
n.2607C=
4g.5618642G>TCA356143592EVC2c.2542C>A (p.Leu848Met)
c.2302C>A (p.Leu768Met)
c.*935C>A (n.*935C>A)
c.2551C>A (p.Leu851Met)
c.2311C>A (p.Leu771Met)
c.862C>A (p.Leu288Met)
n.2607C>A
4g.5618643C>ACA356143593EVC2c.2541G>T (p.Glu847Asp)
c.2301G>T (p.Glu767Asp)
c.*934G>T (n.*934G>T)
c.2550G>T (p.Glu850Asp)
c.2310G>T (p.Glu770Asp)
c.861G>T (p.Glu287Asp)
n.2606G>T
dbSNP gnomAD v2 gnomAD v4
4g.5618643C=CA1435421776EVC2c.2541G= (p.Glu847=)
c.2301G= (p.Glu767=)
c.*934G= (n.*934G=)
c.2550G= (p.Glu850=)
c.2310G= (p.Glu770=)
c.861G= (p.Glu287=)
n.2606G=
4g.5618643C>GCA356143594EVC2c.2541G>C (p.Glu847Asp)
c.2301G>C (p.Glu767Asp)
c.*934G>C (n.*934G>C)
c.2550G>C (p.Glu850Asp)
c.2310G>C (p.Glu770Asp)
c.861G>C (p.Glu287Asp)
n.2606G>C
4g.5618643C>TCA438203867EVC2c.2541G>A (p.Glu847=)
c.2301G>A (p.Glu767=)
c.*934G>A (n.*934G>A)
c.2550G>A (p.Glu850=)
c.2310G>A (p.Glu770=)
c.861G>A (p.Glu287=)
n.2606G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.5618644T>ACA356143595EVC2c.2540A>T (p.Glu847Val)
c.2300A>T (p.Glu767Val)
c.*933A>T (n.*933A>T)
c.2549A>T (p.Glu850Val)
c.2309A>T (p.Glu770Val)
c.860A>T (p.Glu287Val)
n.2605A>T
dbSNP gnomAD v3 gnomAD v4
4g.5618644T>CCA356143596EVC2c.2540A>G (p.Glu847Gly)
c.2300A>G (p.Glu767Gly)
c.*933A>G (n.*933A>G)
c.2549A>G (p.Glu850Gly)
c.2309A>G (p.Glu770Gly)
c.860A>G (p.Glu287Gly)
n.2605A>G
4g.5618644T>GCA356143597EVC2c.2540A>C (p.Glu847Ala)
c.2300A>C (p.Glu767Ala)
c.*933A>C (n.*933A>C)
c.2549A>C (p.Glu850Ala)
c.2309A>C (p.Glu770Ala)
c.860A>C (p.Glu287Ala)
n.2605A>C
4g.5618644T=CA1435421778EVC2c.2540A= (p.Glu847=)
c.2300A= (p.Glu767=)
c.*933A= (n.*933A=)
c.2549A= (p.Glu850=)
c.2309A= (p.Glu770=)
c.860A= (p.Glu287=)
n.2605A=
4g.5618645C>ACA356143598EVC2c.2539G>T (p.Glu847Ter)
c.2299G>T (p.Glu767Ter)
c.*932G>T (n.*932G>T)
c.2548G>T (p.Glu850Ter)
c.2308G>T (p.Glu770Ter)
c.859G>T (p.Glu287Ter)
n.2604G>T
ClinVar dbSNP gnomAD v3 gnomAD v4
4g.5618645C=CA1435421779EVC2c.2539G= (p.Glu847=)
c.2299G= (p.Glu767=)
c.*932G= (n.*932G=)
c.2548G= (p.Glu850=)
c.2308G= (p.Glu770=)
c.859G= (p.Glu287=)
n.2604G=
4g.5618645C>GCA356143599EVC2c.2539G>C (p.Glu847Gln)
c.2299G>C (p.Glu767Gln)
c.*932G>C (n.*932G>C)
c.2548G>C (p.Glu850Gln)
c.2308G>C (p.Glu770Gln)
c.859G>C (p.Glu287Gln)
n.2604G>C
4g.5618645C>TCA356143600EVC2c.2539G>A (p.Glu847Lys)
c.2299G>A (p.Glu767Lys)
c.*932G>A (n.*932G>A)
c.2548G>A (p.Glu850Lys)
c.2308G>A (p.Glu770Lys)
c.859G>A (p.Glu287Lys)
n.2604G>A
dbSNP gnomAD v4
4g.5618646C>ACA356143601EVC2c.2538G>T (p.Glu846Asp)
c.2298G>T (p.Glu766Asp)
c.*931G>T (n.*931G>T)
c.2547G>T (p.Glu849Asp)
c.2307G>T (p.Glu769Asp)
c.858G>T (p.Glu286Asp)
n.2603G>T
4g.5618646C=CA1435421781EVC2c.2538G= (p.Glu846=)
c.2298G= (p.Glu766=)
c.*931G= (n.*931G=)
c.2547G= (p.Glu849=)
c.2307G= (p.Glu769=)
c.858G= (p.Glu286=)
n.2603G=
4g.5618646C>GCA356143602EVC2c.2538G>C (p.Glu846Asp)
c.2298G>C (p.Glu766Asp)
c.*931G>C (n.*931G>C)
c.2547G>C (p.Glu849Asp)
c.2307G>C (p.Glu769Asp)
c.858G>C (p.Glu286Asp)
n.2603G>C
dbSNP gnomAD v2 gnomAD v4
4g.5618646C>TCA438203868EVC2c.2538G>A (p.Glu846=)
c.2298G>A (p.Glu766=)
c.*931G>A (n.*931G>A)
c.2547G>A (p.Glu849=)
c.2307G>A (p.Glu769=)
c.858G>A (p.Glu286=)
n.2603G>A
gnomAD v4
4g.5618647T>ACA356143604EVC2c.2537A>T (p.Glu846Val)
c.2297A>T (p.Glu766Val)
c.*930A>T (n.*930A>T)
c.2546A>T (p.Glu849Val)
c.2306A>T (p.Glu769Val)
c.857A>T (p.Glu286Val)
n.2602A>T
4g.5618647T>CCA356143605EVC2c.2537A>G (p.Glu846Gly)
c.2297A>G (p.Glu766Gly)
c.*930A>G (n.*930A>G)
c.2546A>G (p.Glu849Gly)
c.2306A>G (p.Glu769Gly)
c.857A>G (p.Glu286Gly)
n.2602A>G
4g.5618647T>GCA356143603EVC2c.2537A>C (p.Glu846Ala)
c.2297A>C (p.Glu766Ala)
c.*930A>C (n.*930A>C)
c.2546A>C (p.Glu849Ala)
c.2306A>C (p.Glu769Ala)
c.857A>C (p.Glu286Ala)
n.2602A>C
4g.5618647_5618648delinsTCCA1435421783EVC2c.2536_2537delinsGA (p.Glu846=)
c.2296_2297delinsGA (p.Glu766=)
c.*929_*930delinsGA (n.*929_*930delinsGA)
c.2545_2546delinsGA (p.Glu849=)
c.2305_2306delinsGA (p.Glu769=)
c.856_857delinsGA (p.Glu286=)
n.2601_2602delinsGA
4g.5618648delCA1435421784EVC2c.2536del (p.Glu846ArgfsTer6)
c.2296del (p.Glu766ArgfsTer6)
c.*929del (n.*929del)
c.2545del (p.Glu849ArgfsTer6)
c.2305del (p.Glu769ArgfsTer6)
c.856del (p.Glu286ArgfsTer6)
n.2601del
dbSNP gnomAD v4
4g.5618648C>ACA356143606EVC2c.2536G>T (p.Glu846Ter)
c.2296G>T (p.Glu766Ter)
c.*929G>T (n.*929G>T)
c.2545G>T (p.Glu849Ter)
c.2305G>T (p.Glu769Ter)
c.856G>T (p.Glu286Ter)
n.2601G>T
4g.5618648C>GCA356143607EVC2c.2536G>C (p.Glu846Gln)
c.2296G>C (p.Glu766Gln)
c.*929G>C (n.*929G>C)
c.2545G>C (p.Glu849Gln)
c.2305G>C (p.Glu769Gln)
c.856G>C (p.Glu286Gln)
n.2601G>C
4g.5618648C>TCA356143608EVC2c.2536G>A (p.Glu846Lys)
c.2296G>A (p.Glu766Lys)
c.*929G>A (n.*929G>A)
c.2545G>A (p.Glu849Lys)
c.2305G>A (p.Glu769Lys)
c.856G>A (p.Glu286Lys)
n.2601G>A
4g.5618648_5618660delCA2573138250EVC2c.2524_2536del (p.Ser842ArgfsTer6)
c.2284_2296del (p.Ser762ArgfsTer6)
c.*917_*929del (n.*917_*929del)
c.2533_2545del (p.Ser845ArgfsTer6)
c.2293_2305del (p.Ser765ArgfsTer6)
c.844_856del (p.Ser282ArgfsTer6)
n.2589_2601del
ClinVar dbSNP
4g.5618649T>ACA356143609EVC2c.2535A>T (p.Glu845Asp)
c.2295A>T (p.Glu765Asp)
c.*928A>T (n.*928A>T)
c.2544A>T (p.Glu848Asp)
c.2304A>T (p.Glu768Asp)
c.855A>T (p.Glu285Asp)
n.2600A>T
4g.5618649T>CCA438203869EVC2c.2535A>G (p.Glu845=)
c.2295A>G (p.Glu765=)
c.*928A>G (n.*928A>G)
c.2544A>G (p.Glu848=)
c.2304A>G (p.Glu768=)
c.855A>G (p.Glu285=)
n.2600A>G
ClinVar dbSNP
4g.5618649T>GCA356143610EVC2c.2535A>C (p.Glu845Asp)
c.2295A>C (p.Glu765Asp)
c.*928A>C (n.*928A>C)
c.2544A>C (p.Glu848Asp)
c.2304A>C (p.Glu768Asp)
c.855A>C (p.Glu285Asp)
n.2600A>C
gnomAD v4
4g.5618649T=CA1435421786EVC2c.2535A= (p.Glu845=)
c.2295A= (p.Glu765=)
c.*928A= (n.*928A=)
c.2544A= (p.Glu848=)
c.2304A= (p.Glu768=)
c.855A= (p.Glu285=)
n.2600A=
4g.5618649_5618661delinsTTCAGACAGGGAGCA1435421787EVC2c.2523_2535delinsCTCCCTGTCTGAA (p.Phe841=)
c.2283_2295delinsCTCCCTGTCTGAA (p.Phe761=)
c.*916_*928delinsCTCCCTGTCTGAA (n.*916_*928delinsCTCCCTGTCTGAA)
c.2532_2544delinsCTCCCTGTCTGAA (p.Phe844=)
c.2292_2304delinsCTCCCTGTCTGAA (p.Phe764=)
c.843_855delinsCTCCCTGTCTGAA (p.Phe281=)
n.2588_2600delinsCTCCCTGTCTGAA
4g.5618650T>ACA356143613EVC2c.2534A>T (p.Glu845Val)
c.2294A>T (p.Glu765Val)
c.*927A>T (n.*927A>T)
c.2543A>T (p.Glu848Val)
c.2303A>T (p.Glu768Val)
c.854A>T (p.Glu285Val)
n.2599A>T
4g.5618650T>CCA356143612EVC2c.2534A>G (p.Glu845Gly)
c.2294A>G (p.Glu765Gly)
c.*927A>G (n.*927A>G)
c.2543A>G (p.Glu848Gly)
c.2303A>G (p.Glu768Gly)
c.854A>G (p.Glu285Gly)
n.2599A>G
4g.5618650T>GCA356143611EVC2c.2534A>C (p.Glu845Ala)
c.2294A>C (p.Glu765Ala)
c.*927A>C (n.*927A>C)
c.2543A>C (p.Glu848Ala)
c.2303A>C (p.Glu768Ala)
c.854A>C (p.Glu285Ala)
n.2599A>C
4g.5618650_5618661delCA1435421789EVC2c.2523_2534del (p.Phe841_Glu845delinsLeu)
c.2283_2294del (p.Phe761_Glu765delinsLeu)
c.*916_*927del (n.*916_*927del)
c.2532_2543del (p.Phe844_Glu848delinsLeu)
c.2292_2303del (p.Phe764_Glu768delinsLeu)
c.843_854del (p.Phe281_Glu285delinsLeu)
n.2588_2599del
dbSNP gnomAD v4
4g.5618651C>ACA2834675EVC2c.2533G>T (p.Glu845Ter)
c.2293G>T (p.Glu765Ter)
c.*926G>T (n.*926G>T)
c.2542G>T (p.Glu848Ter)
c.2302G>T (p.Glu768Ter)
c.853G>T (p.Glu285Ter)
n.2598G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618651C=CA1435421790EVC2c.2533G= (p.Glu845=)
c.2293G= (p.Glu765=)
c.*926G= (n.*926G=)
c.2542G= (p.Glu848=)
c.2302G= (p.Glu768=)
c.853G= (p.Glu285=)
n.2598G=
4g.5618651C>GCA91697258EVC2c.2533G>C (p.Glu845Gln)
c.2293G>C (p.Glu765Gln)
c.*926G>C (n.*926G>C)
c.2542G>C (p.Glu848Gln)
c.2302G>C (p.Glu768Gln)
c.853G>C (p.Glu285Gln)
n.2598G>C
dbSNP
4g.5618651C>TCA356143614EVC2c.2533G>A (p.Glu845Lys)
c.2293G>A (p.Glu765Lys)
c.*926G>A (n.*926G>A)
c.2542G>A (p.Glu848Lys)
c.2302G>A (p.Glu768Lys)
c.853G>A (p.Glu285Lys)
n.2598G>A
COSMIC COSMIC
4g.5618652A>CCA438203870EVC2c.2532T>G (p.Ser844=)
c.2292T>G (p.Ser764=)
c.*925T>G (n.*925T>G)
c.2541T>G (p.Ser847=)
c.2301T>G (p.Ser767=)
c.852T>G (p.Ser284=)
n.2597T>G
4g.5618652A>GCA438203871EVC2c.2532T>C (p.Ser844=)
c.2292T>C (p.Ser764=)
c.*925T>C (n.*925T>C)
c.2541T>C (p.Ser847=)
c.2301T>C (p.Ser767=)
c.852T>C (p.Ser284=)
n.2597T>C
4g.5618652A>TCA438203872EVC2c.2532T>A (p.Ser844=)
c.2292T>A (p.Ser764=)
c.*925T>A (n.*925T>A)
c.2541T>A (p.Ser847=)
c.2301T>A (p.Ser767=)
c.852T>A (p.Ser284=)
n.2597T>A
4g.5618653G>ACA356143615EVC2c.2531C>T (p.Ser844Phe)
c.2291C>T (p.Ser764Phe)
c.*924C>T (n.*924C>T)
c.2540C>T (p.Ser847Phe)
c.2300C>T (p.Ser767Phe)
c.851C>T (p.Ser284Phe)
n.2596C>T
4g.5618653G>CCA356143616EVC2c.2531C>G (p.Ser844Cys)
c.2291C>G (p.Ser764Cys)
c.*924C>G (n.*924C>G)
c.2540C>G (p.Ser847Cys)
c.2300C>G (p.Ser767Cys)
c.851C>G (p.Ser284Cys)
n.2596C>G
4g.5618653G>TCA356143617EVC2c.2531C>A (p.Ser844Tyr)
c.2291C>A (p.Ser764Tyr)
c.*924C>A (n.*924C>A)
c.2540C>A (p.Ser847Tyr)
c.2300C>A (p.Ser767Tyr)
c.851C>A (p.Ser284Tyr)
n.2596C>A
4g.5618654A>CCA356143620EVC2c.2530T>G (p.Ser844Ala)
c.2290T>G (p.Ser764Ala)
c.*923T>G (n.*923T>G)
c.2539T>G (p.Ser847Ala)
c.2299T>G (p.Ser767Ala)
c.850T>G (p.Ser284Ala)
n.2595T>G
4g.5618654A>GCA356143619EVC2c.2530T>C (p.Ser844Pro)
c.2290T>C (p.Ser764Pro)
c.*923T>C (n.*923T>C)
c.2539T>C (p.Ser847Pro)
c.2299T>C (p.Ser767Pro)
c.850T>C (p.Ser284Pro)
n.2595T>C
4g.5618654A>TCA356143618EVC2c.2530T>A (p.Ser844Thr)
c.2290T>A (p.Ser764Thr)
c.*923T>A (n.*923T>A)
c.2539T>A (p.Ser847Thr)
c.2299T>A (p.Ser767Thr)
c.850T>A (p.Ser284Thr)
n.2595T>A
4g.5618655C>ACA438203873EVC2c.2529G>T (p.Leu843=)
c.2289G>T (p.Leu763=)
c.*922G>T (n.*922G>T)
c.2538G>T (p.Leu846=)
c.2298G>T (p.Leu766=)
c.849G>T (p.Leu283=)
n.2594G>T
dbSNP gnomAD v2 gnomAD v4
4g.5618655C=CA1435421792EVC2c.2529G= (p.Leu843=)
c.2289G= (p.Leu763=)
c.*922G= (n.*922G=)
c.2538G= (p.Leu846=)
c.2298G= (p.Leu766=)
c.849G= (p.Leu283=)
n.2594G=
4g.5618655C>GCA438203874EVC2c.2529G>C (p.Leu843=)
c.2289G>C (p.Leu763=)
c.*922G>C (n.*922G>C)
c.2538G>C (p.Leu846=)
c.2298G>C (p.Leu766=)
c.849G>C (p.Leu283=)
n.2594G>C
ClinVar
4g.5618655C>TCA438203875EVC2c.2529G>A (p.Leu843=)
c.2289G>A (p.Leu763=)
c.*922G>A (n.*922G>A)
c.2538G>A (p.Leu846=)
c.2298G>A (p.Leu766=)
c.849G>A (p.Leu283=)
n.2594G>A
4g.5618656A>CCA356143621EVC2c.2528T>G (p.Leu843Arg)
c.2288T>G (p.Leu763Arg)
c.*921T>G (n.*921T>G)
c.2537T>G (p.Leu846Arg)
c.2297T>G (p.Leu766Arg)
c.848T>G (p.Leu283Arg)
n.2593T>G
4g.5618656A>GCA356143623EVC2c.2528T>C (p.Leu843Pro)
c.2288T>C (p.Leu763Pro)
c.*921T>C (n.*921T>C)
c.2537T>C (p.Leu846Pro)
c.2297T>C (p.Leu766Pro)
c.848T>C (p.Leu283Pro)
n.2593T>C
4g.5618656A>TCA356143622EVC2c.2528T>A (p.Leu843Gln)
c.2288T>A (p.Leu763Gln)
c.*921T>A (n.*921T>A)
c.2537T>A (p.Leu846Gln)
c.2297T>A (p.Leu766Gln)
c.848T>A (p.Leu283Gln)
n.2593T>A
4g.5618657G>ACA438203876EVC2c.2527C>T (p.Leu843=)
c.2287C>T (p.Leu763=)
c.*920C>T (n.*920C>T)
c.2536C>T (p.Leu846=)
c.2296C>T (p.Leu766=)
c.847C>T (p.Leu283=)
n.2592C>T
gnomAD v4
4g.5618657G>CCA356143624EVC2c.2527C>G (p.Leu843Val)
c.2287C>G (p.Leu763Val)
c.*920C>G (n.*920C>G)
c.2536C>G (p.Leu846Val)
c.2296C>G (p.Leu766Val)
c.847C>G (p.Leu283Val)
n.2592C>G
dbSNP gnomAD v2 gnomAD v4
4g.5618657G=CA1435421793EVC2c.2527C= (p.Leu843=)
c.2287C= (p.Leu763=)
c.*920C= (n.*920C=)
c.2536C= (p.Leu846=)
c.2296C= (p.Leu766=)
c.847C= (p.Leu283=)
n.2592C=
4g.5618657G>TCA356143625EVC2c.2527C>A (p.Leu843Met)
c.2287C>A (p.Leu763Met)
c.*920C>A (n.*920C>A)
c.2536C>A (p.Leu846Met)
c.2296C>A (p.Leu766Met)
c.847C>A (p.Leu283Met)
n.2592C>A
4g.5618658G>ACA438203877EVC2c.2526C>T (p.Ser842=)
c.2286C>T (p.Ser762=)
c.*919C>T (n.*919C>T)
c.2535C>T (p.Ser845=)
c.2295C>T (p.Ser765=)
c.846C>T (p.Ser282=)
n.2591C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.5618658G>CCA438203878EVC2c.2526C>G (p.Ser842=)
c.2286C>G (p.Ser762=)
c.*919C>G (n.*919C>G)
c.2535C>G (p.Ser845=)
c.2295C>G (p.Ser765=)
c.846C>G (p.Ser282=)
n.2591C>G
4g.5618658G=CA1435421795EVC2c.2526C= (p.Ser842=)
c.2286C= (p.Ser762=)
c.*919C= (n.*919C=)
c.2535C= (p.Ser845=)
c.2295C= (p.Ser765=)
c.846C= (p.Ser282=)
n.2591C=
4g.5618658G>TCA438203879EVC2c.2526C>A (p.Ser842=)
c.2286C>A (p.Ser762=)
c.*919C>A (n.*919C>A)
c.2535C>A (p.Ser845=)
c.2295C>A (p.Ser765=)
c.846C>A (p.Ser282=)
n.2591C>A
4g.5618659G>ACA356143626EVC2c.2525C>T (p.Ser842Phe)
c.2285C>T (p.Ser762Phe)
c.*918C>T (n.*918C>T)
c.2534C>T (p.Ser845Phe)
c.2294C>T (p.Ser765Phe)
c.845C>T (p.Ser282Phe)
n.2590C>T
gnomAD v4
4g.5618659G>CCA2834676EVC2c.2525C>G (p.Ser842Cys)
c.2285C>G (p.Ser762Cys)
c.*918C>G (n.*918C>G)
c.2534C>G (p.Ser845Cys)
c.2294C>G (p.Ser765Cys)
c.845C>G (p.Ser282Cys)
n.2590C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618659G=CA1435421797EVC2c.2525C= (p.Ser842=)
c.2285C= (p.Ser762=)
c.*918C= (n.*918C=)
c.2534C= (p.Ser845=)
c.2294C= (p.Ser765=)
c.845C= (p.Ser282=)
n.2590C=
4g.5618659G>TCA356143628EVC2c.2525C>A (p.Ser842Tyr)
c.2285C>A (p.Ser762Tyr)
c.*918C>A (n.*918C>A)
c.2534C>A (p.Ser845Tyr)
c.2294C>A (p.Ser765Tyr)
c.845C>A (p.Ser282Tyr)
n.2590C>A
4g.5618660A=CA1435421799EVC2c.2524T= (p.Ser842=)
c.2284T= (p.Ser762=)
c.*917T= (n.*917T=)
c.2533T= (p.Ser845=)
c.2293T= (p.Ser765=)
c.844T= (p.Ser282=)
n.2589T=
4g.5618660A>CCA356143630EVC2c.2524T>G (p.Ser842Ala)
c.2284T>G (p.Ser762Ala)
c.*917T>G (n.*917T>G)
c.2533T>G (p.Ser845Ala)
c.2293T>G (p.Ser765Ala)
c.844T>G (p.Ser282Ala)
n.2589T>G
4g.5618660A>GCA356143632EVC2c.2524T>C (p.Ser842Pro)
c.2284T>C (p.Ser762Pro)
c.*917T>C (n.*917T>C)
c.2533T>C (p.Ser845Pro)
c.2293T>C (p.Ser765Pro)
c.844T>C (p.Ser282Pro)
n.2589T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.5618660A>TCA356143633EVC2c.2524T>A (p.Ser842Thr)
c.2284T>A (p.Ser762Thr)
c.*917T>A (n.*917T>A)
c.2533T>A (p.Ser845Thr)
c.2293T>A (p.Ser765Thr)
c.844T>A (p.Ser282Thr)
n.2589T>A
4g.5618661G>ACA438203880EVC2c.2523C>T (p.Phe841=)
c.2283C>T (p.Phe761=)
c.*916C>T (n.*916C>T)
c.2532C>T (p.Phe844=)
c.2292C>T (p.Phe764=)
c.843C>T (p.Phe281=)
n.2588C>T
4g.5618661G>CCA356143635EVC2c.2523C>G (p.Phe841Leu)
c.2283C>G (p.Phe761Leu)
c.*916C>G (n.*916C>G)
c.2532C>G (p.Phe844Leu)
c.2292C>G (p.Phe764Leu)
c.843C>G (p.Phe281Leu)
n.2588C>G
4g.5618661G>TCA356143637EVC2c.2523C>A (p.Phe841Leu)
c.2283C>A (p.Phe761Leu)
c.*916C>A (n.*916C>A)
c.2532C>A (p.Phe844Leu)
c.2292C>A (p.Phe764Leu)
c.843C>A (p.Phe281Leu)
n.2588C>A
4g.5618662A>CCA356143638EVC2c.2522T>G (p.Phe841Cys)
c.2282T>G (p.Phe761Cys)
c.*915T>G (n.*915T>G)
c.2531T>G (p.Phe844Cys)
c.2291T>G (p.Phe764Cys)
c.842T>G (p.Phe281Cys)
n.2587T>G
4g.5618662A>GCA356143640EVC2c.2522T>C (p.Phe841Ser)
c.2282T>C (p.Phe761Ser)
c.*915T>C (n.*915T>C)
c.2531T>C (p.Phe844Ser)
c.2291T>C (p.Phe764Ser)
c.842T>C (p.Phe281Ser)
n.2587T>C
4g.5618662A>TCA356143641EVC2c.2522T>A (p.Phe841Tyr)
c.2282T>A (p.Phe761Tyr)
c.*915T>A (n.*915T>A)
c.2531T>A (p.Phe844Tyr)
c.2291T>A (p.Phe764Tyr)
c.842T>A (p.Phe281Tyr)
n.2587T>A
4g.5618663delCA2669800462EVC2c.2522del (p.Phe841SerfsTer11)
c.2282del (p.Phe761SerfsTer11)
c.*915del (n.*915del)
c.2531del (p.Phe844SerfsTer11)
c.2291del (p.Phe764SerfsTer11)
c.842del (p.Phe281SerfsTer11)
n.2587del
gnomAD v4
4g.5618663A>CCA356143644EVC2c.2521T>G (p.Phe841Val)
c.2281T>G (p.Phe761Val)
c.*914T>G (n.*914T>G)
c.2530T>G (p.Phe844Val)
c.2290T>G (p.Phe764Val)
c.841T>G (p.Phe281Val)
n.2586T>G
4g.5618663A>GCA356143643EVC2c.2521T>C (p.Phe841Leu)
c.2281T>C (p.Phe761Leu)
c.*914T>C (n.*914T>C)
c.2530T>C (p.Phe844Leu)
c.2290T>C (p.Phe764Leu)
c.841T>C (p.Phe281Leu)
n.2586T>C
4g.5618663A>TCA356143642EVC2c.2521T>A (p.Phe841Ile)
c.2281T>A (p.Phe761Ile)
c.*914T>A (n.*914T>A)
c.2530T>A (p.Phe844Ile)
c.2290T>A (p.Phe764Ile)
c.841T>A (p.Phe281Ile)
n.2586T>A
4g.5618664G>ACA438203883EVC2c.2520C>T (p.Val840=)
c.2280C>T (p.Val760=)
c.*913C>T (n.*913C>T)
c.2529C>T (p.Val843=)
c.2289C>T (p.Val763=)
c.840C>T (p.Val280=)
n.2585C>T
4g.5618664G>CCA438203882EVC2c.2520C>G (p.Val840=)
c.2280C>G (p.Val760=)
c.*913C>G (n.*913C>G)
c.2529C>G (p.Val843=)
c.2289C>G (p.Val763=)
c.840C>G (p.Val280=)
n.2585C>G
4g.5618664G>TCA438203881EVC2c.2520C>A (p.Val840=)
c.2280C>A (p.Val760=)
c.*913C>A (n.*913C>A)
c.2529C>A (p.Val843=)
c.2289C>A (p.Val763=)
c.840C>A (p.Val280=)
n.2585C>A
4g.5618665A>CCA356143646EVC2c.2519T>G (p.Val840Gly)
c.2279T>G (p.Val760Gly)
c.*912T>G (n.*912T>G)
c.2528T>G (p.Val843Gly)
c.2288T>G (p.Val763Gly)
c.839T>G (p.Val280Gly)
n.2584T>G
4g.5618665A>GCA356143647EVC2c.2519T>C (p.Val840Ala)
c.2279T>C (p.Val760Ala)
c.*912T>C (n.*912T>C)
c.2528T>C (p.Val843Ala)
c.2288T>C (p.Val763Ala)
c.839T>C (p.Val280Ala)
n.2584T>C
4g.5618665A>TCA356143648EVC2c.2519T>A (p.Val840Asp)
c.2279T>A (p.Val760Asp)
c.*912T>A (n.*912T>A)
c.2528T>A (p.Val843Asp)
c.2288T>A (p.Val763Asp)
c.839T>A (p.Val280Asp)
n.2584T>A
4g.5618666C>ACA356143651EVC2c.2518G>T (p.Val840Phe)
c.2278G>T (p.Val760Phe)
c.*911G>T (n.*911G>T)
c.2527G>T (p.Val843Phe)
c.2287G>T (p.Val763Phe)
c.838G>T (p.Val280Phe)
n.2583G>T
gnomAD v4 COSMIC COSMIC
4g.5618666C>GCA356143652EVC2c.2518G>C (p.Val840Leu)
c.2278G>C (p.Val760Leu)
c.*911G>C (n.*911G>C)
c.2527G>C (p.Val843Leu)
c.2287G>C (p.Val763Leu)
c.838G>C (p.Val280Leu)
n.2583G>C
4g.5618666C>TCA356143654EVC2c.2518G>A (p.Val840Ile)
c.2278G>A (p.Val760Ile)
c.*911G>A (n.*911G>A)
c.2527G>A (p.Val843Ile)
c.2287G>A (p.Val763Ile)
c.838G>A (p.Val280Ile)
n.2583G>A
ClinVar dbSNP gnomAD v4
4g.5618667T>ACA438203885EVC2c.2517A>T (p.Ser839=)
c.2277A>T (p.Ser759=)
c.*910A>T (n.*910A>T)
c.2526A>T (p.Ser842=)
c.2286A>T (p.Ser762=)
c.837A>T (p.Ser279=)
n.2582A>T
4g.5618667T>CCA2834677EVC2c.2517A>G (p.Ser839=)
c.2277A>G (p.Ser759=)
c.*910A>G (n.*910A>G)
c.2526A>G (p.Ser842=)
c.2286A>G (p.Ser762=)
c.837A>G (p.Ser279=)
n.2582A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618667T>GCA438203884EVC2c.2517A>C (p.Ser839=)
c.2277A>C (p.Ser759=)
c.*910A>C (n.*910A>C)
c.2526A>C (p.Ser842=)
c.2286A>C (p.Ser762=)
c.837A>C (p.Ser279=)
n.2582A>C
4g.5618667T=CA1435421800EVC2c.2517A= (p.Ser839=)
c.2277A= (p.Ser759=)
c.*910A= (n.*910A=)
c.2526A= (p.Ser842=)
c.2286A= (p.Ser762=)
c.837A= (p.Ser279=)
n.2582A=
4g.5618667_5618668delinsCTCA2740091127EVC2c.2516_2517delinsAG (p.Ser839Ter)
c.2276_2277delinsAG (p.Ser759Ter)
c.*909_*910delinsAG (n.*909_*910delinsAG)
c.2525_2526delinsAG (p.Ser842Ter)
c.2285_2286delinsAG (p.Ser762Ter)
c.836_837delinsAG (p.Ser279Ter)
n.2581_2582delinsAG
ClinVar
4g.5618668G>ACA91697265EVC2c.2516C>T (p.Ser839Leu)
c.2276C>T (p.Ser759Leu)
c.*909C>T (n.*909C>T)
c.2525C>T (p.Ser842Leu)
c.2285C>T (p.Ser762Leu)
c.836C>T (p.Ser279Leu)
n.2581C>T
dbSNP gnomAD v4
4g.5618668G>CCA356143657EVC2c.2516C>G (p.Ser839Ter)
c.2276C>G (p.Ser759Ter)
c.*909C>G (n.*909C>G)
c.2525C>G (p.Ser842Ter)
c.2285C>G (p.Ser762Ter)
c.836C>G (p.Ser279Ter)
n.2581C>G
4g.5618668G=CA1435421802EVC2c.2516C= (p.Ser839=)
c.2276C= (p.Ser759=)
c.*909C= (n.*909C=)
c.2525C= (p.Ser842=)
c.2285C= (p.Ser762=)
c.836C= (p.Ser279=)
n.2581C=
4g.5618668G>TCA356143659EVC2c.2516C>A (p.Ser839Ter)
c.2276C>A (p.Ser759Ter)
c.*909C>A (n.*909C>A)
c.2525C>A (p.Ser842Ter)
c.2285C>A (p.Ser762Ter)
c.836C>A (p.Ser279Ter)
n.2581C>A
gnomAD v4
4g.5618669A>CCA356143660EVC2c.2515T>G (p.Ser839Ala)
c.2275T>G (p.Ser759Ala)
c.*908T>G (n.*908T>G)
c.2524T>G (p.Ser842Ala)
c.2284T>G (p.Ser762Ala)
c.835T>G (p.Ser279Ala)
n.2580T>G
4g.5618669A>GCA356143661EVC2c.2515T>C (p.Ser839Pro)
c.2275T>C (p.Ser759Pro)
c.*908T>C (n.*908T>C)
c.2524T>C (p.Ser842Pro)
c.2284T>C (p.Ser762Pro)
c.835T>C (p.Ser279Pro)
n.2580T>C
4g.5618669A>TCA356143662EVC2c.2515T>A (p.Ser839Thr)
c.2275T>A (p.Ser759Thr)
c.*908T>A (n.*908T>A)
c.2524T>A (p.Ser842Thr)
c.2284T>A (p.Ser762Thr)
c.835T>A (p.Ser279Thr)
n.2580T>A
4g.5618670G>ACA438203886EVC2c.2514C>T (p.Ser838=)
c.2274C>T (p.Ser758=)
c.*907C>T (n.*907C>T)
c.2523C>T (p.Ser841=)
c.2283C>T (p.Ser761=)
c.834C>T (p.Ser278=)
n.2579C>T
dbSNP gnomAD v4
4g.5618670G>CCA438203888EVC2c.2514C>G (p.Ser838=)
c.2274C>G (p.Ser758=)
c.*907C>G (n.*907C>G)
c.2523C>G (p.Ser841=)
c.2283C>G (p.Ser761=)
c.834C>G (p.Ser278=)
n.2579C>G
4g.5618670G=CA1435421803EVC2c.2514C= (p.Ser838=)
c.2274C= (p.Ser758=)
c.*907C= (n.*907C=)
c.2523C= (p.Ser841=)
c.2283C= (p.Ser761=)
c.834C= (p.Ser278=)
n.2579C=
4g.5618670G>TCA438203887EVC2c.2514C>A (p.Ser838=)
c.2274C>A (p.Ser758=)
c.*907C>A (n.*907C>A)
c.2523C>A (p.Ser841=)
c.2283C>A (p.Ser761=)
c.834C>A (p.Ser278=)
n.2579C>A
ClinVar dbSNP
4g.5618671G>ACA356143666EVC2c.2513C>T (p.Ser838Phe)
c.2273C>T (p.Ser758Phe)
c.*906C>T (n.*906C>T)
c.2522C>T (p.Ser841Phe)
c.2282C>T (p.Ser761Phe)
c.833C>T (p.Ser278Phe)
n.2578C>T
gnomAD v4
4g.5618671G>CCA356143667EVC2c.2513C>G (p.Ser838Cys)
c.2273C>G (p.Ser758Cys)
c.*906C>G (n.*906C>G)
c.2522C>G (p.Ser841Cys)
c.2282C>G (p.Ser761Cys)
c.833C>G (p.Ser278Cys)
n.2578C>G
4g.5618671G>TCA356143664EVC2c.2513C>A (p.Ser838Tyr)
c.2273C>A (p.Ser758Tyr)
c.*906C>A (n.*906C>A)
c.2522C>A (p.Ser841Tyr)
c.2282C>A (p.Ser761Tyr)
c.833C>A (p.Ser278Tyr)
n.2578C>A
gnomAD v4
4g.5618672A=CA1435421804EVC2c.2512T= (p.Ser838=)
c.2272T= (p.Ser758=)
c.*905T= (n.*905T=)
c.2521T= (p.Ser841=)
c.2281T= (p.Ser761=)
c.832T= (p.Ser278=)
n.2577T=
4g.5618672A>CCA356143670EVC2c.2512T>G (p.Ser838Ala)
c.2272T>G (p.Ser758Ala)
c.*905T>G (n.*905T>G)
c.2521T>G (p.Ser841Ala)
c.2281T>G (p.Ser761Ala)
c.832T>G (p.Ser278Ala)
n.2577T>G
4g.5618672A>GCA356143671EVC2c.2512T>C (p.Ser838Pro)
c.2272T>C (p.Ser758Pro)
c.*905T>C (n.*905T>C)
c.2521T>C (p.Ser841Pro)
c.2281T>C (p.Ser761Pro)
c.832T>C (p.Ser278Pro)
n.2577T>C
ClinVar dbSNP gnomAD v4
4g.5618672A>TCA356143672EVC2c.2512T>A (p.Ser838Thr)
c.2272T>A (p.Ser758Thr)
c.*905T>A (n.*905T>A)
c.2521T>A (p.Ser841Thr)
c.2281T>A (p.Ser761Thr)
c.832T>A (p.Ser278Thr)
n.2577T>A
4g.5618673G>ACA438203889EVC2c.2511C>T (p.Cys837=)
c.2271C>T (p.Cys757=)
c.*904C>T (n.*904C>T)
c.2520C>T (p.Cys840=)
c.2280C>T (p.Cys760=)
c.831C>T (p.Cys277=)
n.2576C>T
4g.5618673G>CCA356143673EVC2c.2511C>G (p.Cys837Trp)
c.2271C>G (p.Cys757Trp)
c.*904C>G (n.*904C>G)
c.2520C>G (p.Cys840Trp)
c.2280C>G (p.Cys760Trp)
c.831C>G (p.Cys277Trp)
n.2576C>G
4g.5618673G>TCA356143674EVC2c.2511C>A (p.Cys837Ter)
c.2271C>A (p.Cys757Ter)
c.*904C>A (n.*904C>A)
c.2520C>A (p.Cys840Ter)
c.2280C>A (p.Cys760Ter)
c.831C>A (p.Cys277Ter)
n.2576C>A
gnomAD v4
4g.5618674C>ACA356143675EVC2c.2510G>T (p.Cys837Phe)
c.2270G>T (p.Cys757Phe)
c.*903G>T (n.*903G>T)
c.2519G>T (p.Cys840Phe)
c.2279G>T (p.Cys760Phe)
c.830G>T (p.Cys277Phe)
n.2575G>T
gnomAD v4
4g.5618674C=CA1435421806EVC2c.2510G= (p.Cys837=)
c.2270G= (p.Cys757=)
c.*903G= (n.*903G=)
c.2519G= (p.Cys840=)
c.2279G= (p.Cys760=)
c.830G= (p.Cys277=)
n.2575G=
4g.5618674C>GCA356143676EVC2c.2510G>C (p.Cys837Ser)
c.2270G>C (p.Cys757Ser)
c.*903G>C (n.*903G>C)
c.2519G>C (p.Cys840Ser)
c.2279G>C (p.Cys760Ser)
c.830G>C (p.Cys277Ser)
n.2575G>C
4g.5618674C>TCA91697275EVC2c.2510G>A (p.Cys837Tyr)
c.2270G>A (p.Cys757Tyr)
c.*903G>A (n.*903G>A)
c.2519G>A (p.Cys840Tyr)
c.2279G>A (p.Cys760Tyr)
c.830G>A (p.Cys277Tyr)
n.2575G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.5618675A>CCA356143677EVC2c.2509T>G (p.Cys837Gly)
c.2269T>G (p.Cys757Gly)
c.*902T>G (n.*902T>G)
c.2518T>G (p.Cys840Gly)
c.2278T>G (p.Cys760Gly)
c.829T>G (p.Cys277Gly)
n.2574T>G
4g.5618675A>GCA356143679EVC2c.2509T>C (p.Cys837Arg)
c.2269T>C (p.Cys757Arg)
c.*902T>C (n.*902T>C)
c.2518T>C (p.Cys840Arg)
c.2278T>C (p.Cys760Arg)
c.829T>C (p.Cys277Arg)
n.2574T>C
4g.5618675A>TCA356143680EVC2c.2509T>A (p.Cys837Ser)
c.2269T>A (p.Cys757Ser)
c.*902T>A (n.*902T>A)
c.2518T>A (p.Cys840Ser)
c.2278T>A (p.Cys760Ser)
c.829T>A (p.Cys277Ser)
n.2574T>A
dbSNP gnomAD v4
4g.5618676G>ACA438203890EVC2c.2508C>T (p.Leu836=)
c.2268C>T (p.Leu756=)
c.*901C>T (n.*901C>T)
c.2517C>T (p.Leu839=)
c.2277C>T (p.Leu759=)
c.828C>T (p.Leu276=)
n.2573C>T
ClinVar dbSNP gnomAD v2
4g.5618676G>CCA438203891EVC2c.2508C>G (p.Leu836=)
c.2268C>G (p.Leu756=)
c.*901C>G (n.*901C>G)
c.2517C>G (p.Leu839=)
c.2277C>G (p.Leu759=)
c.828C>G (p.Leu276=)
n.2573C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.5618676G=CA1435421808EVC2c.2508C= (p.Leu836=)
c.2268C= (p.Leu756=)
c.*901C= (n.*901C=)
c.2517C= (p.Leu839=)
c.2277C= (p.Leu759=)
c.828C= (p.Leu276=)
n.2573C=
4g.5618676G>TCA438203892EVC2c.2508C>A (p.Leu836=)
c.2268C>A (p.Leu756=)
c.*901C>A (n.*901C>A)
c.2517C>A (p.Leu839=)
c.2277C>A (p.Leu759=)
c.828C>A (p.Leu276=)
n.2573C>A
4g.5618677A>CCA356143683EVC2c.2507T>G (p.Leu836Arg)
c.2267T>G (p.Leu756Arg)
c.*900T>G (n.*900T>G)
c.2516T>G (p.Leu839Arg)
c.2276T>G (p.Leu759Arg)
c.827T>G (p.Leu276Arg)
n.2572T>G
4g.5618677A>GCA356143682EVC2c.2507T>C (p.Leu836Pro)
c.2267T>C (p.Leu756Pro)
c.*900T>C (n.*900T>C)
c.2516T>C (p.Leu839Pro)
c.2276T>C (p.Leu759Pro)
c.827T>C (p.Leu276Pro)
n.2572T>C
4g.5618677A>TCA356143681EVC2c.2507T>A (p.Leu836His)
c.2267T>A (p.Leu756His)
c.*900T>A (n.*900T>A)
c.2516T>A (p.Leu839His)
c.2276T>A (p.Leu759His)
c.827T>A (p.Leu276His)
n.2572T>A
4g.5618678G>ACA356143690EVC2c.2506C>T (p.Leu836Phe)
c.2266C>T (p.Leu756Phe)
c.*899C>T (n.*899C>T)
c.2515C>T (p.Leu839Phe)
c.2275C>T (p.Leu759Phe)
c.826C>T (p.Leu276Phe)
n.2571C>T
ClinVar dbSNP gnomAD v4
4g.5618678G>CCA356143692EVC2c.2506C>G (p.Leu836Val)
c.2266C>G (p.Leu756Val)
c.*899C>G (n.*899C>G)
c.2515C>G (p.Leu839Val)
c.2275C>G (p.Leu759Val)
c.826C>G (p.Leu276Val)
n.2571C>G
4g.5618678G=CA1435421810EVC2c.2506C= (p.Leu836=)
c.2266C= (p.Leu756=)
c.*899C= (n.*899C=)
c.2515C= (p.Leu839=)
c.2275C= (p.Leu759=)
c.826C= (p.Leu276=)
n.2571C=
4g.5618678G>TCA356143693EVC2c.2506C>A (p.Leu836Ile)
c.2266C>A (p.Leu756Ile)
c.*899C>A (n.*899C>A)
c.2515C>A (p.Leu839Ile)
c.2275C>A (p.Leu759Ile)
c.826C>A (p.Leu276Ile)
n.2571C>A
4g.5618679C>ACA2834679EVC2c.2505G>T (p.Lys835Asn)
c.2265G>T (p.Lys755Asn)
c.*898G>T (n.*898G>T)
c.2514G>T (p.Lys838Asn)
c.2274G>T (p.Lys758Asn)
c.825G>T (p.Lys275Asn)
n.2570G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.5618679C=CA1435421813EVC2c.2505G= (p.Lys835=)
c.2265G= (p.Lys755=)
c.*898G= (n.*898G=)
c.2514G= (p.Lys838=)
c.2274G= (p.Lys758=)
c.825G= (p.Lys275=)
n.2570G=
4g.5618679C>GCA356143696EVC2c.2505G>C (p.Lys835Asn)
c.2265G>C (p.Lys755Asn)
c.*898G>C (n.*898G>C)
c.2514G>C (p.Lys838Asn)
c.2274G>C (p.Lys758Asn)
c.825G>C (p.Lys275Asn)
n.2570G>C
gnomAD v4
4g.5618679C>TCA2834678EVC2c.2505G>A (p.Lys835=)
c.2265G>A (p.Lys755=)
c.*898G>A (n.*898G>A)
c.2514G>A (p.Lys838=)
c.2274G>A (p.Lys758=)
c.825G>A (p.Lys275=)
n.2570G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.5618680T>ACA356143699EVC2c.2504A>T (p.Lys835Met)
c.2264A>T (p.Lys755Met)
c.*897A>T (n.*897A>T)
c.2513A>T (p.Lys838Met)
c.2273A>T (p.Lys758Met)
c.824A>T (p.Lys275Met)
n.2569A>T
4g.5618680T>CCA356143700EVC2c.2504A>G (p.Lys835Arg)
c.2264A>G (p.Lys755Arg)
c.*897A>G (n.*897A>G)
c.2513A>G (p.Lys838Arg)
c.2273A>G (p.Lys758Arg)
c.824A>G (p.Lys275Arg)
n.2569A>G
4g.5618680T>GCA356143701EVC2c.2504A>C (p.Lys835Thr)
c.2264A>C (p.Lys755Thr)
c.*897A>C (n.*897A>C)
c.2513A>C (p.Lys838Thr)
c.2273A>C (p.Lys758Thr)
c.824A>C (p.Lys275Thr)
n.2569A>C
4g.5618681T>ACA356143703EVC2c.2503A>T (p.Lys835Ter)
c.2263A>T (p.Lys755Ter)
c.*896A>T (n.*896A>T)
c.2512A>T (p.Lys838Ter)
c.2272A>T (p.Lys758Ter)
c.823A>T (p.Lys275Ter)
n.2568A>T
4g.5618681T>CCA356143705EVC2c.2503A>G (p.Lys835Glu)
c.2263A>G (p.Lys755Glu)
c.*896A>G (n.*896A>G)
c.2512A>G (p.Lys838Glu)
c.2272A>G (p.Lys758Glu)
c.823A>G (p.Lys275Glu)
n.2568A>G
4g.5618681T>GCA356143706EVC2c.2503A>C (p.Lys835Gln)
c.2263A>C (p.Lys755Gln)
c.*896A>C (n.*896A>C)
c.2512A>C (p.Lys838Gln)
c.2272A>C (p.Lys758Gln)
c.823A>C (p.Lys275Gln)
n.2568A>C
4g.5618682C>ACA356143711EVC2c.2502G>T (p.Met834Ile)
c.2262G>T (p.Met754Ile)
c.*895G>T (n.*895G>T)
c.2511G>T (p.Met837Ile)
c.2271G>T (p.Met757Ile)
c.822G>T (p.Met274Ile)
n.2567G>T
4g.5618682C>GCA356143709EVC2c.2502G>C (p.Met834Ile)
c.2262G>C (p.Met754Ile)
c.*895G>C (n.*895G>C)
c.2511G>C (p.Met837Ile)
c.2271G>C (p.Met757Ile)
c.822G>C (p.Met274Ile)
n.2567G>C
4g.5618682C>TCA356143708EVC2c.2502G>A (p.Met834Ile)
c.2262G>A (p.Met754Ile)
c.*895G>A (n.*895G>A)
c.2511G>A (p.Met837Ile)
c.2271G>A (p.Met757Ile)
c.822G>A (p.Met274Ile)
n.2567G>A
4g.5618683C>ACA356143715EVC2c.2502-1G>T (n.2502-1G>T)
c.2262-1G>T (n.2262-1G>T)
c.*895-1G>T (n.*895-1G>T)
c.2511-1G>T (n.2511-1G>T)
c.2271-1G>T (n.2271-1G>T)
c.822-1G>T (n.822-1G>T)
n.2567-1G>T
4g.5618683C=CA1435421815EVC2c.2502-1G= (n.2502-1G=)
c.2262-1G= (n.2262-1G=)
c.*895-1G= (n.*895-1G=)
c.2511-1G= (n.2511-1G=)
c.2271-1G= (n.2271-1G=)
c.822-1G= (n.822-1G=)
n.2567-1G=
4g.5618683C>GCA356143719EVC2c.2502-1G>C (n.2502-1G>C)
c.2262-1G>C (n.2262-1G>C)
c.*895-1G>C (n.*895-1G>C)
c.2511-1G>C (n.2511-1G>C)
c.2271-1G>C (n.2271-1G>C)
c.822-1G>C (n.822-1G>C)
n.2567-1G>C
4g.5618683C>TCA356143716EVC2c.2502-1G>A (n.2502-1G>A)
c.2262-1G>A (n.2262-1G>A)
c.*895-1G>A (n.*895-1G>A)
c.2511-1G>A (n.2511-1G>A)
c.2271-1G>A (n.2271-1G>A)
c.822-1G>A (n.822-1G>A)
n.2567-1G>A
dbSNP
4g.5618684T>ACA356143721EVC2c.2502-2A>T (n.2502-2A>T)
c.2262-2A>T (n.2262-2A>T)
c.*895-2A>T (n.*895-2A>T)
c.2511-2A>T (n.2511-2A>T)
c.2271-2A>T (n.2271-2A>T)
c.822-2A>T (n.822-2A>T)
n.2567-2A>T
4g.5618684T>CCA356143722EVC2c.2502-2A>G (n.2502-2A>G)
c.2262-2A>G (n.2262-2A>G)
c.*895-2A>G (n.*895-2A>G)
c.2511-2A>G (n.2511-2A>G)
c.2271-2A>G (n.2271-2A>G)
c.822-2A>G (n.822-2A>G)
n.2567-2A>G
gnomAD v4
4g.5618684T>GCA356143723EVC2c.2502-2A>C (n.2502-2A>C)
c.2262-2A>C (n.2262-2A>C)
c.*895-2A>C (n.*895-2A>C)
c.2511-2A>C (n.2511-2A>C)
c.2271-2A>C (n.2271-2A>C)
c.822-2A>C (n.822-2A>C)
n.2567-2A>C
4g.5618685G>CCA2834680EVC2c.2502-3C>G (n.2502-3C>G)
c.2262-3C>G (n.2262-3C>G)
c.*895-3C>G (n.*895-3C>G)
c.2511-3C>G (n.2511-3C>G)
c.2271-3C>G (n.2271-3C>G)
c.822-3C>G (n.822-3C>G)
n.2567-3C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618685G=CA1435421817EVC2c.2502-3C= (n.2502-3C=)
c.2262-3C= (n.2262-3C=)
c.*895-3C= (n.*895-3C=)
c.2511-3C= (n.2511-3C=)
c.2271-3C= (n.2271-3C=)
c.822-3C= (n.822-3C=)
n.2567-3C=
4g.5618686G>ACA2669800463EVC2c.2502-4C>T (n.2502-4C>T)
c.2262-4C>T (n.2262-4C>T)
c.*895-4C>T (n.*895-4C>T)
c.2511-4C>T (n.2511-4C>T)
c.2271-4C>T (n.2271-4C>T)
c.822-4C>T (n.822-4C>T)
n.2567-4C>T
gnomAD v4
4g.5618686G>TCA2669800464EVC2c.2502-4C>A (n.2502-4C>A)
c.2262-4C>A (n.2262-4C>A)
c.*895-4C>A (n.*895-4C>A)
c.2511-4C>A (n.2511-4C>A)
c.2271-4C>A (n.2271-4C>A)
c.822-4C>A (n.822-4C>A)
n.2567-4C>A
gnomAD v4
4g.5618687G>ACA549707367EVC2c.2502-5C>T (n.2502-5C>T)
c.2262-5C>T (n.2262-5C>T)
c.*895-5C>T (n.*895-5C>T)
c.2511-5C>T (n.2511-5C>T)
c.2271-5C>T (n.2271-5C>T)
c.822-5C>T (n.822-5C>T)
n.2567-5C>T
dbSNP gnomAD v2 gnomAD v4
4g.5618687G>CCA2669800465EVC2c.2502-5C>G (n.2502-5C>G)
c.2262-5C>G (n.2262-5C>G)
c.*895-5C>G (n.*895-5C>G)
c.2511-5C>G (n.2511-5C>G)
c.2271-5C>G (n.2271-5C>G)
c.822-5C>G (n.822-5C>G)
n.2567-5C>G
gnomAD v4
4g.5618687G=CA1435421819EVC2c.2502-5C= (n.2502-5C=)
c.2262-5C= (n.2262-5C=)
c.*895-5C= (n.*895-5C=)
c.2511-5C= (n.2511-5C=)
c.2271-5C= (n.2271-5C=)
c.822-5C= (n.822-5C=)
n.2567-5C=
4g.5618687G>TCA2669800466EVC2c.2502-5C>A (n.2502-5C>A)
c.2262-5C>A (n.2262-5C>A)
c.*895-5C>A (n.*895-5C>A)
c.2511-5C>A (n.2511-5C>A)
c.2271-5C>A (n.2271-5C>A)
c.822-5C>A (n.822-5C>A)
n.2567-5C>A
gnomAD v4
4g.5618688A=CA1435421821EVC2c.2502-6T= (n.2502-6T=)
c.2262-6T= (n.2262-6T=)
c.*895-6T= (n.*895-6T=)
c.2511-6T= (n.2511-6T=)
c.2271-6T= (n.2271-6T=)
c.822-6T= (n.822-6T=)
n.2567-6T=
4g.5618688A>CCA2834681EVC2c.2502-6T>G (n.2502-6T>G)
c.2262-6T>G (n.2262-6T>G)
c.*895-6T>G (n.*895-6T>G)
c.2511-6T>G (n.2511-6T>G)
c.2271-6T>G (n.2271-6T>G)
c.822-6T>G (n.822-6T>G)
n.2567-6T>G
dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618688A>GCA2578032767EVC2c.2502-6T>C (n.2502-6T>C)
c.2262-6T>C (n.2262-6T>C)
c.*895-6T>C (n.*895-6T>C)
c.2511-6T>C (n.2511-6T>C)
c.2271-6T>C (n.2271-6T>C)
c.822-6T>C (n.822-6T>C)
n.2567-6T>C
4g.5618689G>ACA549707368EVC2c.2502-7C>T (n.2502-7C>T)
c.2262-7C>T (n.2262-7C>T)
c.*895-7C>T (n.*895-7C>T)
c.2511-7C>T (n.2511-7C>T)
c.2271-7C>T (n.2271-7C>T)
c.822-7C>T (n.822-7C>T)
n.2567-7C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
4g.5618689G=CA1435421822EVC2c.2502-7C= (n.2502-7C=)
c.2262-7C= (n.2262-7C=)
c.*895-7C= (n.*895-7C=)
c.2511-7C= (n.2511-7C=)
c.2271-7C= (n.2271-7C=)
c.822-7C= (n.822-7C=)
n.2567-7C=
4g.5618690G>ACA549707369EVC2c.2502-8C>T (n.2502-8C>T)
c.2262-8C>T (n.2262-8C>T)
c.*895-8C>T (n.*895-8C>T)
c.2511-8C>T (n.2511-8C>T)
c.2271-8C>T (n.2271-8C>T)
c.822-8C>T (n.822-8C>T)
n.2567-8C>T
dbSNP gnomAD v2
4g.5618690G=CA1435421824EVC2c.2502-8C= (n.2502-8C=)
c.2262-8C= (n.2262-8C=)
c.*895-8C= (n.*895-8C=)
c.2511-8C= (n.2511-8C=)
c.2271-8C= (n.2271-8C=)
c.822-8C= (n.822-8C=)
n.2567-8C=
4g.5618690G>TCA1435421825EVC2c.2502-8C>A (n.2502-8C>A)
c.2262-8C>A (n.2262-8C>A)
c.*895-8C>A (n.*895-8C>A)
c.2511-8C>A (n.2511-8C>A)
c.2271-8C>A (n.2271-8C>A)
c.822-8C>A (n.822-8C>A)
n.2567-8C>A
dbSNP
4g.5618691A>GCA2669800467EVC2c.2502-9T>C (n.2502-9T>C)
c.2262-9T>C (n.2262-9T>C)
c.*895-9T>C (n.*895-9T>C)
c.2511-9T>C (n.2511-9T>C)
c.2271-9T>C (n.2271-9T>C)
c.822-9T>C (n.822-9T>C)
n.2567-9T>C
gnomAD v4
4g.5618693G>CCA2834682EVC2c.2502-11C>G (n.2502-11C>G)
c.2262-11C>G (n.2262-11C>G)
c.*895-11C>G (n.*895-11C>G)
c.2511-11C>G (n.2511-11C>G)
c.2271-11C>G (n.2271-11C>G)
c.822-11C>G (n.822-11C>G)
n.2567-11C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.5618693G=CA1435421827EVC2c.2502-11C= (n.2502-11C=)
c.2262-11C= (n.2262-11C=)
c.*895-11C= (n.*895-11C=)
c.2511-11C= (n.2511-11C=)
c.2271-11C= (n.2271-11C=)
c.822-11C= (n.822-11C=)
n.2567-11C=
4g.5618693G>TCA2669800468EVC2c.2502-11C>A (n.2502-11C>A)
c.2262-11C>A (n.2262-11C>A)
c.*895-11C>A (n.*895-11C>A)
c.2511-11C>A (n.2511-11C>A)
c.2271-11C>A (n.2271-11C>A)
c.822-11C>A (n.822-11C>A)
n.2567-11C>A
gnomAD v4
4g.5618694A=CA1435421829EVC2c.2502-12T= (n.2502-12T=)
c.2262-12T= (n.2262-12T=)
c.*895-12T= (n.*895-12T=)
c.2511-12T= (n.2511-12T=)
c.2271-12T= (n.2271-12T=)
c.822-12T= (n.822-12T=)
n.2567-12T=
4g.5618694A>CCA2834683EVC2c.2502-12T>G (n.2502-12T>G)
c.2262-12T>G (n.2262-12T>G)
c.*895-12T>G (n.*895-12T>G)
c.2511-12T>G (n.2511-12T>G)
c.2271-12T>G (n.2271-12T>G)
c.822-12T>G (n.822-12T>G)
n.2567-12T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.5618695A>GCA2669800469EVC2c.2502-13T>C (n.2502-13T>C)
c.2262-13T>C (n.2262-13T>C)
c.*895-13T>C (n.*895-13T>C)
c.2511-13T>C (n.2511-13T>C)
c.2271-13T>C (n.2271-13T>C)
c.822-13T>C (n.822-13T>C)
n.2567-13T>C
gnomAD v4
4g.5618696C>ACA2669800470EVC2c.2502-14G>T (n.2502-14G>T)
c.2262-14G>T (n.2262-14G>T)
c.*895-14G>T (n.*895-14G>T)
c.2511-14G>T (n.2511-14G>T)
c.2271-14G>T (n.2271-14G>T)
c.822-14G>T (n.822-14G>T)
n.2567-14G>T
gnomAD v4
4g.5618696C=CA1435421830EVC2c.2502-14G= (n.2502-14G=)
c.2262-14G= (n.2262-14G=)
c.*895-14G= (n.*895-14G=)
c.2511-14G= (n.2511-14G=)
c.2271-14G= (n.2271-14G=)
c.822-14G= (n.822-14G=)
n.2567-14G=
4g.5618696C>TCA1435421831EVC2c.2502-14G>A (n.2502-14G>A)
c.2262-14G>A (n.2262-14G>A)
c.*895-14G>A (n.*895-14G>A)
c.2511-14G>A (n.2511-14G>A)
c.2271-14G>A (n.2271-14G>A)
c.822-14G>A (n.822-14G>A)
n.2567-14G>A
dbSNP gnomAD v4
4g.5618697A=CA1435421833EVC2c.2502-15T= (n.2502-15T=)
c.2262-15T= (n.2262-15T=)
c.*895-15T= (n.*895-15T=)
c.2511-15T= (n.2511-15T=)
c.2271-15T= (n.2271-15T=)
c.822-15T= (n.822-15T=)
n.2567-15T=
4g.5618697A>GCA549707370EVC2c.2502-15T>C (n.2502-15T>C)
c.2262-15T>C (n.2262-15T>C)
c.*895-15T>C (n.*895-15T>C)
c.2511-15T>C (n.2511-15T>C)
c.2271-15T>C (n.2271-15T>C)
c.822-15T>C (n.822-15T>C)
n.2567-15T>C
dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.5618698G>CCA2669800471EVC2c.2502-16C>G (n.2502-16C>G)
c.2262-16C>G (n.2262-16C>G)
c.*895-16C>G (n.*895-16C>G)
c.2511-16C>G (n.2511-16C>G)
c.2271-16C>G (n.2271-16C>G)
c.822-16C>G (n.822-16C>G)
n.2567-16C>G
gnomAD v4
4g.5618698G>TCA2669800472EVC2c.2502-16C>A (n.2502-16C>A)
c.2262-16C>A (n.2262-16C>A)
c.*895-16C>A (n.*895-16C>A)
c.2511-16C>A (n.2511-16C>A)
c.2271-16C>A (n.2271-16C>A)
c.822-16C>A (n.822-16C>A)
n.2567-16C>A
gnomAD v4

Number of alleles fetched