Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.40395930T>ACA405896313PRXc.2422A>T (p.Lys808Ter)
c.2005A>T (p.Lys669Ter)
c.2707A>T (p.Lys903Ter)
c.2297A>T
c.2283A>T
c.2384A>T
c.2309A>T
c.*2627A>T (n.*2627A>T)
c.2320A>T (p.Lys774Ter)
19g.40395930T>CCA405896314PRXc.2422A>G (p.Lys808Glu)
c.2005A>G (p.Lys669Glu)
c.2707A>G (p.Lys903Glu)
c.2297A>G
c.2283A>G
c.2384A>G
c.2309A>G
c.*2627A>G (n.*2627A>G)
c.2320A>G (p.Lys774Glu)
19g.40395930T>GCA9444058PRXc.2422A>C (p.Lys808Gln)
c.2005A>C (p.Lys669Gln)
c.2707A>C (p.Lys903Gln)
c.2297A>C
c.2283A>C
c.2384A>C
c.2309A>C
c.*2627A>C (n.*2627A>C)
c.2320A>C (p.Lys774Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40395930T=CA2335961386PRXc.2422A= (p.Lys808=)
c.2005A= (p.Lys669=)
c.2707A= (p.Lys903=)
c.2297A=
c.2283A=
c.2384A=
c.2309A=
c.*2627A= (n.*2627A=)
c.2320A= (p.Lys774=)
19g.40395930_40395931delinsTGCA2335961385PRXc.2421_2422delinsCA (p.Pro807=)
c.2004_2005delinsCA (p.Pro668=)
c.2706_2707delinsCA (p.Pro902=)
c.2296_2297delinsCA
c.2282_2283delinsCA
c.2383_2384delinsCA
c.2308_2309delinsCA
c.*2626_*2627delinsCA (n.*2626_*2627delinsCA)
c.2319_2320delinsCA (p.Pro773=)
19g.40395931G>ACA9444059PRXc.2421C>T (p.Pro807=)
c.2004C>T (p.Pro668=)
c.2706C>T (p.Pro902=)
c.2296C>T
c.2282C>T
c.2383C>T
c.2308C>T
c.*2626C>T (n.*2626C>T)
c.2319C>T (p.Pro773=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40395931G>CCA507679261PRXc.2421C>G (p.Pro807=)
c.2004C>G (p.Pro668=)
c.2706C>G (p.Pro902=)
c.2296C>G
c.2282C>G
c.2383C>G
c.2308C>G
c.*2626C>G (n.*2626C>G)
c.2319C>G (p.Pro773=)
19g.40395931G=CA2335961387PRXc.2421C= (p.Pro807=)
c.2004C= (p.Pro668=)
c.2706C= (p.Pro902=)
c.2296C=
c.2282C=
c.2383C=
c.2308C=
c.*2626C= (n.*2626C=)
c.2319C= (p.Pro773=)
19g.40395931G>TCA507679262PRXc.2421C>A (p.Pro807=)
c.2004C>A (p.Pro668=)
c.2706C>A (p.Pro902=)
c.2296C>A
c.2282C>A
c.2383C>A
c.2308C>A
c.*2626C>A (n.*2626C>A)
c.2319C>A (p.Pro773=)
19g.40395933delCA915953018PRXc.2421del (p.Lys808SerfsTer2)
c.2004del (p.Lys669SerfsTer2)
c.2706del (p.Lys903SerfsTer2)
c.2296del
c.2282del
c.2383del
c.2308del
c.*2626del (n.*2626del)
c.2319del (p.Lys774SerfsTer2)
ClinVar dbSNP
19g.40395932G>ACA405896315PRXc.2420C>T (p.Pro807Leu)
c.2003C>T (p.Pro668Leu)
c.2705C>T (p.Pro902Leu)
c.2295C>T
c.2281C>T
c.2382C>T
c.2307C>T
c.*2625C>T (n.*2625C>T)
c.2318C>T (p.Pro773Leu)
19g.40395932G>CCA405896316PRXc.2420C>G (p.Pro807Arg)
c.2003C>G (p.Pro668Arg)
c.2705C>G (p.Pro902Arg)
c.2295C>G
c.2281C>G
c.2382C>G
c.2307C>G
c.*2625C>G (n.*2625C>G)
c.2318C>G (p.Pro773Arg)
19g.40395932G>TCA405896317PRXc.2420C>A (p.Pro807His)
c.2003C>A (p.Pro668His)
c.2705C>A (p.Pro902His)
c.2295C>A
c.2281C>A
c.2382C>A
c.2307C>A
c.*2625C>A (n.*2625C>A)
c.2318C>A (p.Pro773His)
19g.40395933G>ACA405896318PRXc.2419C>T (p.Pro807Ser)
c.2002C>T (p.Pro668Ser)
c.2704C>T (p.Pro902Ser)
c.2294C>T
c.2280C>T
c.2381C>T
c.2306C>T
c.*2624C>T (n.*2624C>T)
c.2317C>T (p.Pro773Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.40395933G>CCA405896319PRXc.2419C>G (p.Pro807Ala)
c.2002C>G (p.Pro668Ala)
c.2704C>G (p.Pro902Ala)
c.2294C>G
c.2280C>G
c.2381C>G
c.2306C>G
c.*2624C>G (n.*2624C>G)
c.2317C>G (p.Pro773Ala)
19g.40395933G=CA2335961388PRXc.2419C= (p.Pro807=)
c.2002C= (p.Pro668=)
c.2704C= (p.Pro902=)
c.2294C=
c.2280C=
c.2381C=
c.2306C=
c.*2624C= (n.*2624C=)
c.2317C= (p.Pro773=)
19g.40395933G>TCA405896320PRXc.2419C>A (p.Pro807Thr)
c.2002C>A (p.Pro668Thr)
c.2704C>A (p.Pro902Thr)
c.2294C>A
c.2280C>A
c.2381C>A
c.2306C>A
c.*2624C>A (n.*2624C>A)
c.2317C>A (p.Pro773Thr)
19g.40395934C>ACA405896321PRXc.2418G>T (p.Met806Ile)
c.2001G>T (p.Met667Ile)
c.2703G>T (p.Met901Ile)
c.2293G>T
c.2279G>T
c.2380G>T
c.2305G>T
c.*2623G>T (n.*2623G>T)
c.2316G>T (p.Met772Ile)
19g.40395934C=CA2335961389PRXc.2418G= (p.Met806=)
c.2001G= (p.Met667=)
c.2703G= (p.Met901=)
c.2293G=
c.2279G=
c.2380G=
c.2305G=
c.*2623G= (n.*2623G=)
c.2316G= (p.Met772=)
19g.40395934C>GCA405896322PRXc.2418G>C (p.Met806Ile)
c.2001G>C (p.Met667Ile)
c.2703G>C (p.Met901Ile)
c.2293G>C
c.2279G>C
c.2380G>C
c.2305G>C
c.*2623G>C (n.*2623G>C)
c.2316G>C (p.Met772Ile)
19g.40395934C>TCA405896323PRXc.2418G>A (p.Met806Ile)
c.2001G>A (p.Met667Ile)
c.2703G>A (p.Met901Ile)
c.2293G>A
c.2279G>A
c.2380G>A
c.2305G>A
c.*2623G>A (n.*2623G>A)
c.2316G>A (p.Met772Ile)
dbSNP gnomAD v4
19g.40395935A>CCA405896326PRXc.2417T>G (p.Met806Arg)
c.2000T>G (p.Met667Arg)
c.2702T>G (p.Met901Arg)
c.2292T>G
c.2278T>G
c.2379T>G
c.2304T>G
c.*2622T>G (n.*2622T>G)
c.2315T>G (p.Met772Arg)
19g.40395935A>GCA405896324PRXc.2417T>C (p.Met806Thr)
c.2000T>C (p.Met667Thr)
c.2702T>C (p.Met901Thr)
c.2292T>C
c.2278T>C
c.2379T>C
c.2304T>C
c.*2622T>C (n.*2622T>C)
c.2315T>C (p.Met772Thr)
gnomAD v4
19g.40395935A>TCA405896325PRXc.2417T>A (p.Met806Lys)
c.2000T>A (p.Met667Lys)
c.2702T>A (p.Met901Lys)
c.2292T>A
c.2278T>A
c.2379T>A
c.2304T>A
c.*2622T>A (n.*2622T>A)
c.2315T>A (p.Met772Lys)
19g.40395936T>ACA405896327PRXc.2416A>T (p.Met806Leu)
c.1999A>T (p.Met667Leu)
c.2701A>T (p.Met901Leu)
c.2291A>T
c.2277A>T
c.2378A>T
c.2303A>T
c.*2621A>T (n.*2621A>T)
c.2314A>T (p.Met772Leu)
19g.40395936T>CCA405896328PRXc.2416A>G (p.Met806Val)
c.1999A>G (p.Met667Val)
c.2701A>G (p.Met901Val)
c.2291A>G
c.2277A>G
c.2378A>G
c.2303A>G
c.*2621A>G (n.*2621A>G)
c.2314A>G (p.Met772Val)
gnomAD v4
19g.40395936T>GCA405896329PRXc.2416A>C (p.Met806Leu)
c.1999A>C (p.Met667Leu)
c.2701A>C (p.Met901Leu)
c.2291A>C
c.2277A>C
c.2378A>C
c.2303A>C
c.*2621A>C (n.*2621A>C)
c.2314A>C (p.Met772Leu)
19g.40395937G>ACA507679267PRXc.2415C>T (p.Thr805=)
c.1998C>T (p.Thr666=)
c.2700C>T (p.Thr900=)
c.2290C>T
c.2276C>T
c.2377C>T
c.2302C>T
c.*2620C>T (n.*2620C>T)
c.2313C>T (p.Thr771=)
19g.40395937G>CCA507679268PRXc.2415C>G (p.Thr805=)
c.1998C>G (p.Thr666=)
c.2700C>G (p.Thr900=)
c.2290C>G
c.2276C>G
c.2377C>G
c.2302C>G
c.*2620C>G (n.*2620C>G)
c.2313C>G (p.Thr771=)
19g.40395937G>TCA507679269PRXc.2415C>A (p.Thr805=)
c.1998C>A (p.Thr666=)
c.2700C>A (p.Thr900=)
c.2290C>A
c.2276C>A
c.2377C>A
c.2302C>A
c.*2620C>A (n.*2620C>A)
c.2313C>A (p.Thr771=)
19g.40395938G>ACA405896330PRXc.2414C>T (p.Thr805Ile)
c.1997C>T (p.Thr666Ile)
c.2699C>T (p.Thr900Ile)
c.2289C>T
c.2275C>T
c.2376C>T
c.2301C>T
c.*2619C>T (n.*2619C>T)
c.2312C>T (p.Thr771Ile)
19g.40395938G>CCA405896331PRXc.2414C>G (p.Thr805Ser)
c.1997C>G (p.Thr666Ser)
c.2699C>G (p.Thr900Ser)
c.2289C>G
c.2275C>G
c.2376C>G
c.2301C>G
c.*2619C>G (n.*2619C>G)
c.2312C>G (p.Thr771Ser)
19g.40395938G>TCA405896332PRXc.2414C>A (p.Thr805Asn)
c.1997C>A (p.Thr666Asn)
c.2699C>A (p.Thr900Asn)
c.2289C>A
c.2275C>A
c.2376C>A
c.2301C>A
c.*2619C>A (n.*2619C>A)
c.2312C>A (p.Thr771Asn)
19g.40395939T>ACA405896333PRXc.2413A>T (p.Thr805Ser)
c.1996A>T (p.Thr666Ser)
c.2698A>T (p.Thr900Ser)
c.2288A>T
c.2274A>T
c.2375A>T
c.2300A>T
c.*2618A>T (n.*2618A>T)
c.2311A>T (p.Thr771Ser)
19g.40395939T>CCA405896334PRXc.2413A>G (p.Thr805Ala)
c.1996A>G (p.Thr666Ala)
c.2698A>G (p.Thr900Ala)
c.2288A>G
c.2274A>G
c.2375A>G
c.2300A>G
c.*2618A>G (n.*2618A>G)
c.2311A>G (p.Thr771Ala)
19g.40395939T>GCA405896335PRXc.2413A>C (p.Thr805Pro)
c.1996A>C (p.Thr666Pro)
c.2698A>C (p.Thr900Pro)
c.2288A>C
c.2274A>C
c.2375A>C
c.2300A>C
c.*2618A>C (n.*2618A>C)
c.2311A>C (p.Thr771Pro)
19g.40395940C>ACA405896336PRXc.2412G>T (p.Met804Ile)
c.1995G>T (p.Met665Ile)
c.2697G>T (p.Met899Ile)
c.2287G>T
c.2273G>T
c.2374G>T
c.2299G>T
c.*2617G>T (n.*2617G>T)
c.2310G>T (p.Met770Ile)
COSMIC
19g.40395940C>GCA405896337PRXc.2412G>C (p.Met804Ile)
c.1995G>C (p.Met665Ile)
c.2697G>C (p.Met899Ile)
c.2287G>C
c.2273G>C
c.2374G>C
c.2299G>C
c.*2617G>C (n.*2617G>C)
c.2310G>C (p.Met770Ile)
19g.40395940C>TCA405896338PRXc.2412G>A (p.Met804Ile)
c.1995G>A (p.Met665Ile)
c.2697G>A (p.Met899Ile)
c.2287G>A
c.2273G>A
c.2374G>A
c.2299G>A
c.*2617G>A (n.*2617G>A)
c.2310G>A (p.Met770Ile)
19g.40395947_40395955delCA2697556588PRXc.2404_2412del (p.Pro802_Met804del)
c.1987_1995del (p.Pro663_Met665del)
c.2689_2697del (p.Pro897_Met899del)
c.2279_2287del
c.2265_2273del
c.2366_2374del
c.2291_2299del
c.*2609_*2617del (n.*2609_*2617del)
c.2302_2310del (p.Pro768_Met770del)
ClinVar
19g.40395941A>CCA405896339PRXc.2411T>G (p.Met804Arg)
c.1994T>G (p.Met665Arg)
c.2696T>G (p.Met899Arg)
c.2286T>G
c.2272T>G
c.2373T>G
c.2298T>G
c.*2616T>G (n.*2616T>G)
c.2309T>G (p.Met770Arg)
19g.40395941A>GCA405896341PRXc.2411T>C (p.Met804Thr)
c.1994T>C (p.Met665Thr)
c.2696T>C (p.Met899Thr)
c.2286T>C
c.2272T>C
c.2373T>C
c.2298T>C
c.*2616T>C (n.*2616T>C)
c.2309T>C (p.Met770Thr)
gnomAD v4
19g.40395941A>TCA405896340PRXc.2411T>A (p.Met804Lys)
c.1994T>A (p.Met665Lys)
c.2696T>A (p.Met899Lys)
c.2286T>A
c.2272T>A
c.2373T>A
c.2298T>A
c.*2616T>A (n.*2616T>A)
c.2309T>A (p.Met770Lys)
19g.40395942T>ACA405896342PRXc.2410A>T (p.Met804Leu)
c.1993A>T (p.Met665Leu)
c.2695A>T (p.Met899Leu)
c.2285A>T
c.2271A>T
c.2372A>T
c.2297A>T
c.*2615A>T (n.*2615A>T)
c.2308A>T (p.Met770Leu)
dbSNP
19g.40395942T>CCA405896343PRXc.2410A>G (p.Met804Val)
c.1993A>G (p.Met665Val)
c.2695A>G (p.Met899Val)
c.2285A>G
c.2271A>G
c.2372A>G
c.2297A>G
c.*2615A>G (n.*2615A>G)
c.2308A>G (p.Met770Val)
19g.40395942T>GCA405896344PRXc.2410A>C (p.Met804Leu)
c.1993A>C (p.Met665Leu)
c.2695A>C (p.Met899Leu)
c.2285A>C
c.2271A>C
c.2372A>C
c.2297A>C
c.*2615A>C (n.*2615A>C)
c.2308A>C (p.Met770Leu)
19g.40395942T=CA2335961390PRXc.2410A= (p.Met804=)
c.1993A= (p.Met665=)
c.2695A= (p.Met899=)
c.2285A=
c.2271A=
c.2372A=
c.2297A=
c.*2615A= (n.*2615A=)
c.2308A= (p.Met770=)
19g.40395943C>ACA405896345PRXc.2409G>T (p.Lys803Asn)
c.1992G>T (p.Lys664Asn)
c.2694G>T (p.Lys898Asn)
c.2284G>T
c.2270G>T
c.2371G>T
c.2296G>T
c.*2614G>T (n.*2614G>T)
c.2307G>T (p.Lys769Asn)
19g.40395943C>GCA405896346PRXc.2409G>C (p.Lys803Asn)
c.1992G>C (p.Lys664Asn)
c.2694G>C (p.Lys898Asn)
c.2284G>C
c.2270G>C
c.2371G>C
c.2296G>C
c.*2614G>C (n.*2614G>C)
c.2307G>C (p.Lys769Asn)
19g.40395943C>TCA507679271PRXc.2409G>A (p.Lys803=)
c.1992G>A (p.Lys664=)
c.2694G>A (p.Lys898=)
c.2284G>A
c.2270G>A
c.2371G>A
c.2296G>A
c.*2614G>A (n.*2614G>A)
c.2307G>A (p.Lys769=)
19g.40395944T>ACA405896347PRXc.2408A>T (p.Lys803Met)
c.1991A>T (p.Lys664Met)
c.2693A>T (p.Lys898Met)
c.2283A>T
c.2269A>T
c.2370A>T
c.2295A>T
c.*2613A>T (n.*2613A>T)
c.2306A>T (p.Lys769Met)
19g.40395944T>CCA405896348PRXc.2408A>G (p.Lys803Arg)
c.1991A>G (p.Lys664Arg)
c.2693A>G (p.Lys898Arg)
c.2283A>G
c.2269A>G
c.2370A>G
c.2295A>G
c.*2613A>G (n.*2613A>G)
c.2306A>G (p.Lys769Arg)
19g.40395944T>GCA405896349PRXc.2408A>C (p.Lys803Thr)
c.1991A>C (p.Lys664Thr)
c.2693A>C (p.Lys898Thr)
c.2283A>C
c.2269A>C
c.2370A>C
c.2295A>C
c.*2613A>C (n.*2613A>C)
c.2306A>C (p.Lys769Thr)
19g.40395945T>ACA405896350PRXc.2407A>T (p.Lys803Ter)
c.1990A>T (p.Lys664Ter)
c.2692A>T (p.Lys898Ter)
c.2282A>T
c.2268A>T
c.2369A>T
c.2294A>T
c.*2612A>T (n.*2612A>T)
c.2305A>T (p.Lys769Ter)
19g.40395945T>CCA405896351PRXc.2407A>G (p.Lys803Glu)
c.1990A>G (p.Lys664Glu)
c.2692A>G (p.Lys898Glu)
c.2282A>G
c.2268A>G
c.2369A>G
c.2294A>G
c.*2612A>G (n.*2612A>G)
c.2305A>G (p.Lys769Glu)
dbSNP gnomAD v2 gnomAD v4
19g.40395945T>GCA405896352PRXc.2407A>C (p.Lys803Gln)
c.1990A>C (p.Lys664Gln)
c.2692A>C (p.Lys898Gln)
c.2282A>C
c.2268A>C
c.2369A>C
c.2294A>C
c.*2612A>C (n.*2612A>C)
c.2305A>C (p.Lys769Gln)
19g.40395945T=CA2335961391PRXc.2407A= (p.Lys803=)
c.1990A= (p.Lys664=)
c.2692A= (p.Lys898=)
c.2282A=
c.2268A=
c.2369A=
c.2294A=
c.*2612A= (n.*2612A=)
c.2305A= (p.Lys769=)
19g.40395946G>ACA507679273PRXc.2406C>T (p.Pro802=)
c.1989C>T (p.Pro663=)
c.2691C>T (p.Pro897=)
c.2281C>T
c.2267C>T
c.2368C>T
c.2293C>T
c.*2611C>T (n.*2611C>T)
c.2304C>T (p.Pro768=)
19g.40395946G>CCA507679275PRXc.2406C>G (p.Pro802=)
c.1989C>G (p.Pro663=)
c.2691C>G (p.Pro897=)
c.2281C>G
c.2267C>G
c.2368C>G
c.2293C>G
c.*2611C>G (n.*2611C>G)
c.2304C>G (p.Pro768=)
19g.40395946G>TCA507679274PRXc.2406C>A (p.Pro802=)
c.1989C>A (p.Pro663=)
c.2691C>A (p.Pro897=)
c.2281C>A
c.2267C>A
c.2368C>A
c.2293C>A
c.*2611C>A (n.*2611C>A)
c.2304C>A (p.Pro768=)
19g.40395947G>ACA9444060PRXc.2405C>T (p.Pro802Leu)
c.1988C>T (p.Pro663Leu)
c.2690C>T (p.Pro897Leu)
c.2280C>T
c.2266C>T
c.2367C>T
c.2292C>T
c.*2610C>T (n.*2610C>T)
c.2303C>T (p.Pro768Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
19g.40395947G>CCA405896354PRXc.2405C>G (p.Pro802Arg)
c.1988C>G (p.Pro663Arg)
c.2690C>G (p.Pro897Arg)
c.2280C>G
c.2266C>G
c.2367C>G
c.2292C>G
c.*2610C>G (n.*2610C>G)
c.2303C>G (p.Pro768Arg)
19g.40395947G=CA2335961392PRXc.2405C= (p.Pro802=)
c.1988C= (p.Pro663=)
c.2690C= (p.Pro897=)
c.2280C=
c.2266C=
c.2367C=
c.2292C=
c.*2610C= (n.*2610C=)
c.2303C= (p.Pro768=)
19g.40395947G>TCA405896353PRXc.2405C>A (p.Pro802His)
c.1988C>A (p.Pro663His)
c.2690C>A (p.Pro897His)
c.2280C>A
c.2266C>A
c.2367C>A
c.2292C>A
c.*2610C>A (n.*2610C>A)
c.2303C>A (p.Pro768His)
19g.40395948G>ACA405896355PRXc.2404C>T (p.Pro802Ser)
c.1987C>T (p.Pro663Ser)
c.2689C>T (p.Pro897Ser)
c.2279C>T
c.2265C>T
c.2366C>T
c.2291C>T
c.*2609C>T (n.*2609C>T)
c.2302C>T (p.Pro768Ser)
19g.40395948G>CCA405896356PRXc.2404C>G (p.Pro802Ala)
c.1987C>G (p.Pro663Ala)
c.2689C>G (p.Pro897Ala)
c.2279C>G
c.2265C>G
c.2366C>G
c.2291C>G
c.*2609C>G (n.*2609C>G)
c.2302C>G (p.Pro768Ala)
19g.40395948G>TCA405896357PRXc.2404C>A (p.Pro802Thr)
c.1987C>A (p.Pro663Thr)
c.2689C>A (p.Pro897Thr)
c.2279C>A
c.2265C>A
c.2366C>A
c.2291C>A
c.*2609C>A (n.*2609C>A)
c.2302C>A (p.Pro768Thr)
19g.40395949C>ACA405896358PRXc.2403G>T (p.Met801Ile)
c.1986G>T (p.Met662Ile)
c.2688G>T (p.Met896Ile)
c.2278G>T
c.2264G>T
c.2365G>T
c.2290G>T
c.*2608G>T (n.*2608G>T)
c.2301G>T (p.Met767Ile)
19g.40395949C>GCA405896359PRXc.2403G>C (p.Met801Ile)
c.1986G>C (p.Met662Ile)
c.2688G>C (p.Met896Ile)
c.2278G>C
c.2264G>C
c.2365G>C
c.2290G>C
c.*2608G>C (n.*2608G>C)
c.2301G>C (p.Met767Ile)
19g.40395949C>TCA405896360PRXc.2403G>A (p.Met801Ile)
c.1986G>A (p.Met662Ile)
c.2688G>A (p.Met896Ile)
c.2278G>A
c.2264G>A
c.2365G>A
c.2290G>A
c.*2608G>A (n.*2608G>A)
c.2301G>A (p.Met767Ile)
gnomAD v4
19g.40395950A>CCA405896361PRXc.2402T>G (p.Met801Arg)
c.1985T>G (p.Met662Arg)
c.2687T>G (p.Met896Arg)
c.2277T>G
c.2263T>G
c.2364T>G
c.2289T>G
c.*2607T>G (n.*2607T>G)
c.2300T>G (p.Met767Arg)
19g.40395950A>GCA405896362PRXc.2402T>C (p.Met801Thr)
c.1985T>C (p.Met662Thr)
c.2687T>C (p.Met896Thr)
c.2277T>C
c.2263T>C
c.2364T>C
c.2289T>C
c.*2607T>C (n.*2607T>C)
c.2300T>C (p.Met767Thr)
19g.40395950A>TCA405896363PRXc.2402T>A (p.Met801Lys)
c.1985T>A (p.Met662Lys)
c.2687T>A (p.Met896Lys)
c.2277T>A
c.2263T>A
c.2364T>A
c.2289T>A
c.*2607T>A (n.*2607T>A)
c.2300T>A (p.Met767Lys)
19g.40395951T>ACA405896364PRXc.2401A>T (p.Met801Leu)
c.1984A>T (p.Met662Leu)
c.2686A>T (p.Met896Leu)
c.2276A>T
c.2262A>T
c.2363A>T
c.2288A>T
c.*2606A>T (n.*2606A>T)
c.2299A>T (p.Met767Leu)
19g.40395951T>CCA405896365PRXc.2401A>G (p.Met801Val)
c.1984A>G (p.Met662Val)
c.2686A>G (p.Met896Val)
c.2276A>G
c.2262A>G
c.2363A>G
c.2288A>G
c.*2606A>G (n.*2606A>G)
c.2299A>G (p.Met767Val)
19g.40395951T>GCA405896366PRXc.2401A>C (p.Met801Leu)
c.1984A>C (p.Met662Leu)
c.2686A>C (p.Met896Leu)
c.2276A>C
c.2262A>C
c.2363A>C
c.2288A>C
c.*2606A>C (n.*2606A>C)
c.2299A>C (p.Met767Leu)
19g.40395952C>ACA405896368PRXc.2400G>T (p.Lys800Asn)
c.1983G>T (p.Lys661Asn)
c.2685G>T (p.Lys895Asn)
c.2275G>T
c.2261G>T
c.2362G>T
c.2287G>T
c.*2605G>T (n.*2605G>T)
c.2298G>T (p.Lys766Asn)
19g.40395952C=CA2335961393PRXc.2400G= (p.Lys800=)
c.1983G= (p.Lys661=)
c.2685G= (p.Lys895=)
c.2275G=
c.2261G=
c.2362G=
c.2287G=
c.*2605G= (n.*2605G=)
c.2298G= (p.Lys766=)
19g.40395952C>GCA405896367PRXc.2400G>C (p.Lys800Asn)
c.1983G>C (p.Lys661Asn)
c.2685G>C (p.Lys895Asn)
c.2275G>C
c.2261G>C
c.2362G>C
c.2287G>C
c.*2605G>C (n.*2605G>C)
c.2298G>C (p.Lys766Asn)
19g.40395952C>TCA507679284PRXc.2400G>A (p.Lys800=)
c.1983G>A (p.Lys661=)
c.2685G>A (p.Lys895=)
c.2275G>A
c.2261G>A
c.2362G>A
c.2287G>A
c.*2605G>A (n.*2605G>A)
c.2298G>A (p.Lys766=)
ClinVar dbSNP gnomAD v4
19g.40395953T>ACA405896369PRXc.2399A>T (p.Lys800Met)
c.1982A>T (p.Lys661Met)
c.2684A>T (p.Lys895Met)
c.2274A>T
c.2260A>T
c.2361A>T
c.2286A>T
c.*2604A>T (n.*2604A>T)
c.2297A>T (p.Lys766Met)
gnomAD v4
19g.40395953T>CCA405896371PRXc.2399A>G (p.Lys800Arg)
c.1982A>G (p.Lys661Arg)
c.2684A>G (p.Lys895Arg)
c.2274A>G
c.2260A>G
c.2361A>G
c.2286A>G
c.*2604A>G (n.*2604A>G)
c.2297A>G (p.Lys766Arg)
ClinVar dbSNP
19g.40395953T>GCA405896370PRXc.2399A>C (p.Lys800Thr)
c.1982A>C (p.Lys661Thr)
c.2684A>C (p.Lys895Thr)
c.2274A>C
c.2260A>C
c.2361A>C
c.2286A>C
c.*2604A>C (n.*2604A>C)
c.2297A>C (p.Lys766Thr)
19g.40395954T>ACA405896372PRXc.2398A>T (p.Lys800Ter)
c.1981A>T (p.Lys661Ter)
c.2683A>T (p.Lys895Ter)
c.2273A>T
c.2259A>T
c.2360A>T
c.2285A>T
c.*2603A>T (n.*2603A>T)
c.2296A>T (p.Lys766Ter)
19g.40395954T>CCA405896373PRXc.2398A>G (p.Lys800Glu)
c.1981A>G (p.Lys661Glu)
c.2683A>G (p.Lys895Glu)
c.2273A>G
c.2259A>G
c.2360A>G
c.2285A>G
c.*2603A>G (n.*2603A>G)
c.2296A>G (p.Lys766Glu)
dbSNP
19g.40395954T>GCA405896374PRXc.2398A>C (p.Lys800Gln)
c.1981A>C (p.Lys661Gln)
c.2683A>C (p.Lys895Gln)
c.2273A>C
c.2259A>C
c.2360A>C
c.2285A>C
c.*2603A>C (n.*2603A>C)
c.2296A>C (p.Lys766Gln)
dbSNP gnomAD v3 gnomAD v4
19g.40395954T=CA2335961394PRXc.2398A= (p.Lys800=)
c.1981A= (p.Lys661=)
c.2683A= (p.Lys895=)
c.2273A=
c.2259A=
c.2360A=
c.2285A=
c.*2603A= (n.*2603A=)
c.2296A= (p.Lys766=)
19g.40395955G>ACA507679288PRXc.2397C>T (p.Phe799=)
c.1980C>T (p.Phe660=)
c.2682C>T (p.Phe894=)
c.2272C>T
c.2258C>T
c.2359C>T
c.2284C>T
c.*2602C>T (n.*2602C>T)
c.2295C>T (p.Phe765=)
19g.40395955G>CCA405896375PRXc.2397C>G (p.Phe799Leu)
c.1980C>G (p.Phe660Leu)
c.2682C>G (p.Phe894Leu)
c.2272C>G
c.2258C>G
c.2359C>G
c.2284C>G
c.*2602C>G (n.*2602C>G)
c.2295C>G (p.Phe765Leu)
19g.40395955G>TCA405896376PRXc.2397C>A (p.Phe799Leu)
c.1980C>A (p.Phe660Leu)
c.2682C>A (p.Phe894Leu)
c.2272C>A
c.2258C>A
c.2359C>A
c.2284C>A
c.*2602C>A (n.*2602C>A)
c.2295C>A (p.Phe765Leu)
19g.40395956A>CCA405896377PRXc.2396T>G (p.Phe799Cys)
c.1979T>G (p.Phe660Cys)
c.2681T>G (p.Phe894Cys)
c.2271T>G
c.2257T>G
c.2358T>G
c.2283T>G
c.*2601T>G (n.*2601T>G)
c.2294T>G (p.Phe765Cys)
19g.40395956A>GCA405896378PRXc.2396T>C (p.Phe799Ser)
c.1979T>C (p.Phe660Ser)
c.2681T>C (p.Phe894Ser)
c.2271T>C
c.2257T>C
c.2358T>C
c.2283T>C
c.*2601T>C (n.*2601T>C)
c.2294T>C (p.Phe765Ser)
19g.40395956A>TCA405896379PRXc.2396T>A (p.Phe799Tyr)
c.1979T>A (p.Phe660Tyr)
c.2681T>A (p.Phe894Tyr)
c.2271T>A
c.2257T>A
c.2358T>A
c.2283T>A
c.*2601T>A (n.*2601T>A)
c.2294T>A (p.Phe765Tyr)
19g.40395957A=CA2335961395PRXc.2395T= (p.Phe799=)
c.1978T= (p.Phe660=)
c.2680T= (p.Phe894=)
c.2270T=
c.2256T=
c.2357T=
c.2282T=
c.*2600T= (n.*2600T=)
c.2293T= (p.Phe765=)
19g.40395957A>CCA405896380PRXc.2395T>G (p.Phe799Val)
c.1978T>G (p.Phe660Val)
c.2680T>G (p.Phe894Val)
c.2270T>G
c.2256T>G
c.2357T>G
c.2282T>G
c.*2600T>G (n.*2600T>G)
c.2293T>G (p.Phe765Val)
19g.40395957A>GCA9444061PRXc.2395T>C (p.Phe799Leu)
c.1978T>C (p.Phe660Leu)
c.2680T>C (p.Phe894Leu)
c.2270T>C
c.2256T>C
c.2357T>C
c.2282T>C
c.*2600T>C (n.*2600T>C)
c.2293T>C (p.Phe765Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40395957A>TCA405896381PRXc.2395T>A (p.Phe799Ile)
c.1978T>A (p.Phe660Ile)
c.2680T>A (p.Phe894Ile)
c.2270T>A
c.2256T>A
c.2357T>A
c.2282T>A
c.*2600T>A (n.*2600T>A)
c.2293T>A (p.Phe765Ile)
19g.40395958G>ACA507679295PRXc.2394C>T (p.Gly798=)
c.1977C>T (p.Gly659=)
c.2679C>T (p.Gly893=)
c.2269C>T
c.2255C>T
c.2356C>T
c.2281C>T
c.*2599C>T (n.*2599C>T)
c.2292C>T (p.Gly764=)
dbSNP gnomAD v2 gnomAD v4
19g.40395958G>CCA507679293PRXc.2394C>G (p.Gly798=)
c.1977C>G (p.Gly659=)
c.2679C>G (p.Gly893=)
c.2269C>G
c.2255C>G
c.2356C>G
c.2281C>G
c.*2599C>G (n.*2599C>G)
c.2292C>G (p.Gly764=)
19g.40395958G=CA2335961396PRXc.2394C= (p.Gly798=)
c.1977C= (p.Gly659=)
c.2679C= (p.Gly893=)
c.2269C=
c.2255C=
c.2356C=
c.2281C=
c.*2599C= (n.*2599C=)
c.2292C= (p.Gly764=)
19g.40395958G>TCA507679294PRXc.2394C>A (p.Gly798=)
c.1977C>A (p.Gly659=)
c.2679C>A (p.Gly893=)
c.2269C>A
c.2255C>A
c.2356C>A
c.2281C>A
c.*2599C>A (n.*2599C>A)
c.2292C>A (p.Gly764=)
19g.40395959C>ACA405896384PRXc.2393G>T (p.Gly798Val)
c.1976G>T (p.Gly659Val)
c.2678G>T (p.Gly893Val)
c.2268G>T
c.2254G>T
c.2355G>T
c.2280G>T
c.*2598G>T (n.*2598G>T)
c.2291G>T (p.Gly764Val)
19g.40395959C>GCA405896383PRXc.2393G>C (p.Gly798Ala)
c.1976G>C (p.Gly659Ala)
c.2678G>C (p.Gly893Ala)
c.2268G>C
c.2254G>C
c.2355G>C
c.2280G>C
c.*2598G>C (n.*2598G>C)
c.2291G>C (p.Gly764Ala)
19g.40395959C>TCA405896382PRXc.2393G>A (p.Gly798Asp)
c.1976G>A (p.Gly659Asp)
c.2678G>A (p.Gly893Asp)
c.2268G>A
c.2254G>A
c.2355G>A
c.2280G>A
c.*2598G>A (n.*2598G>A)
c.2291G>A (p.Gly764Asp)
gnomAD v4
19g.40395959_40395980delinsCCAAATTCCATCCCTTCTGCCTCA2335961397PRXc.2372_2393delinsAGGCAGAAGGGATGGAATTTGG (p.Gln791=)
c.1955_1976delinsAGGCAGAAGGGATGGAATTTGG (p.Gln652=)
c.2657_2678delinsAGGCAGAAGGGATGGAATTTGG (p.Gln886=)
c.2247_2268delinsAGGCAGAAGGGATGGAATTTGG
c.2233_2254delinsAGGCAGAAGGGATGGAATTTGG
c.2334_2355delinsAGGCAGAAGGGATGGAATTTGG
c.2259_2280delinsAGGCAGAAGGGATGGAATTTGG
c.*2577_*2598delinsAGGCAGAAGGGATGGAATTTGG (n.*2577_*2598delinsAGGCAGAAGGGATGGAATTTGG)
c.2270_2291delinsAGGCAGAAGGGATGGAATTTGG (p.Gln757=)
19g.40395960C>ACA405896385PRXc.2392G>T (p.Gly798Cys)
c.1975G>T (p.Gly659Cys)
c.2677G>T (p.Gly893Cys)
c.2267G>T
c.2253G>T
c.2354G>T
c.2279G>T
c.*2597G>T (n.*2597G>T)
c.2290G>T (p.Gly764Cys)
19g.40395960C>GCA405896386PRXc.2392G>C (p.Gly798Arg)
c.1975G>C (p.Gly659Arg)
c.2677G>C (p.Gly893Arg)
c.2267G>C
c.2253G>C
c.2354G>C
c.2279G>C
c.*2597G>C (n.*2597G>C)
c.2290G>C (p.Gly764Arg)
19g.40395960C>TCA405896387PRXc.2392G>A (p.Gly798Ser)
c.1975G>A (p.Gly659Ser)
c.2677G>A (p.Gly893Ser)
c.2267G>A
c.2253G>A
c.2354G>A
c.2279G>A
c.*2597G>A (n.*2597G>A)
c.2290G>A (p.Gly764Ser)
19g.40395960_40395980delCA9444062PRXc.2372_2392del (p.Gln791_Gly798delinsArg)
c.1955_1975del (p.Gln652_Gly659delinsArg)
c.2657_2677del (p.Gln886_Gly893delinsArg)
c.2247_2267del
c.2233_2253del
c.2334_2354del
c.2259_2279del
c.*2577_*2597del (n.*2577_*2597del)
c.2270_2290del (p.Gln757_Gly764delinsArg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40395961A>CCA405896388PRXc.2391T>G (p.Phe797Leu)
c.1974T>G (p.Phe658Leu)
c.2676T>G (p.Phe892Leu)
c.2266T>G
c.2252T>G
c.2353T>G
c.2278T>G
c.*2596T>G (n.*2596T>G)
c.2289T>G (p.Phe763Leu)
19g.40395961A>GCA507679299PRXc.2391T>C (p.Phe797=)
c.1974T>C (p.Phe658=)
c.2676T>C (p.Phe892=)
c.2266T>C
c.2252T>C
c.2353T>C
c.2278T>C
c.*2596T>C (n.*2596T>C)
c.2289T>C (p.Phe763=)
19g.40395961A>TCA405896389PRXc.2391T>A (p.Phe797Leu)
c.1974T>A (p.Phe658Leu)
c.2676T>A (p.Phe892Leu)
c.2266T>A
c.2252T>A
c.2353T>A
c.2278T>A
c.*2596T>A (n.*2596T>A)
c.2289T>A (p.Phe763Leu)
19g.40395962A=CA2335961398PRXc.2390T= (p.Phe797=)
c.1973T= (p.Phe658=)
c.2675T= (p.Phe892=)
c.2265T=
c.2251T=
c.2352T=
c.2277T=
c.*2595T= (n.*2595T=)
c.2288T= (p.Phe763=)
19g.40395962A>CCA405896390PRXc.2390T>G (p.Phe797Cys)
c.1973T>G (p.Phe658Cys)
c.2675T>G (p.Phe892Cys)
c.2265T>G
c.2251T>G
c.2352T>G
c.2277T>G
c.*2595T>G (n.*2595T>G)
c.2288T>G (p.Phe763Cys)
19g.40395962A>GCA9444063PRXc.2390T>C (p.Phe797Ser)
c.1973T>C (p.Phe658Ser)
c.2675T>C (p.Phe892Ser)
c.2265T>C
c.2251T>C
c.2352T>C
c.2277T>C
c.*2595T>C (n.*2595T>C)
c.2288T>C (p.Phe763Ser)
dbSNP ExAC gnomAD v2
19g.40395962A>TCA405896391PRXc.2390T>A (p.Phe797Tyr)
c.1973T>A (p.Phe658Tyr)
c.2675T>A (p.Phe892Tyr)
c.2265T>A
c.2251T>A
c.2352T>A
c.2277T>A
c.*2595T>A (n.*2595T>A)
c.2288T>A (p.Phe763Tyr)
19g.40395963A>CCA405896392PRXc.2389T>G (p.Phe797Val)
c.1972T>G (p.Phe658Val)
c.2674T>G (p.Phe892Val)
c.2264T>G
c.2250T>G
c.2351T>G
c.2276T>G
c.*2594T>G (n.*2594T>G)
c.2287T>G (p.Phe763Val)
19g.40395963A>GCA405896393PRXc.2389T>C (p.Phe797Leu)
c.1972T>C (p.Phe658Leu)
c.2674T>C (p.Phe892Leu)
c.2264T>C
c.2250T>C
c.2351T>C
c.2276T>C
c.*2594T>C (n.*2594T>C)
c.2287T>C (p.Phe763Leu)
19g.40395963A>TCA405896394PRXc.2389T>A (p.Phe797Ile)
c.1972T>A (p.Phe658Ile)
c.2674T>A (p.Phe892Ile)
c.2264T>A
c.2250T>A
c.2351T>A
c.2276T>A
c.*2594T>A (n.*2594T>A)
c.2287T>A (p.Phe763Ile)
19g.40395964T>ACA405896396PRXc.2388A>T (p.Glu796Asp)
c.1971A>T (p.Glu657Asp)
c.2673A>T (p.Glu891Asp)
c.2263A>T
c.2249A>T
c.2350A>T
c.2275A>T
c.*2593A>T (n.*2593A>T)
c.2286A>T (p.Glu762Asp)
19g.40395964T>CCA507679304PRXc.2388A>G (p.Glu796=)
c.1971A>G (p.Glu657=)
c.2673A>G (p.Glu891=)
c.2263A>G
c.2249A>G
c.2350A>G
c.2275A>G
c.*2593A>G (n.*2593A>G)
c.2286A>G (p.Glu762=)
19g.40395964T>GCA405896395PRXc.2388A>C (p.Glu796Asp)
c.1971A>C (p.Glu657Asp)
c.2673A>C (p.Glu891Asp)
c.2263A>C
c.2249A>C
c.2350A>C
c.2275A>C
c.*2593A>C (n.*2593A>C)
c.2286A>C (p.Glu762Asp)
19g.40395965T>ACA405896397PRXc.2387A>T (p.Glu796Val)
c.1970A>T (p.Glu657Val)
c.2672A>T (p.Glu891Val)
c.2262A>T
c.2248A>T
c.2349A>T
c.2274A>T
c.*2592A>T (n.*2592A>T)
c.2285A>T (p.Glu762Val)
gnomAD v4
19g.40395965T>CCA405896398PRXc.2387A>G (p.Glu796Gly)
c.1970A>G (p.Glu657Gly)
c.2672A>G (p.Glu891Gly)
c.2262A>G
c.2248A>G
c.2349A>G
c.2274A>G
c.*2592A>G (n.*2592A>G)
c.2285A>G (p.Glu762Gly)
19g.40395965T>GCA405896399PRXc.2387A>C (p.Glu796Ala)
c.1970A>C (p.Glu657Ala)
c.2672A>C (p.Glu891Ala)
c.2262A>C
c.2248A>C
c.2349A>C
c.2274A>C
c.*2592A>C (n.*2592A>C)
c.2285A>C (p.Glu762Ala)
dbSNP
19g.40395965T=CA2335961399PRXc.2387A= (p.Glu796=)
c.1970A= (p.Glu657=)
c.2672A= (p.Glu891=)
c.2262A=
c.2248A=
c.2349A=
c.2274A=
c.*2592A= (n.*2592A=)
c.2285A= (p.Glu762=)
19g.40395966C>ACA405896400PRXc.2386G>T (p.Glu796Ter)
c.1969G>T (p.Glu657Ter)
c.2671G>T (p.Glu891Ter)
c.2261G>T
c.2247G>T
c.2348G>T
c.2273G>T
c.*2591G>T (n.*2591G>T)
c.2284G>T (p.Glu762Ter)
19g.40395966C=CA2335961400PRXc.2386G= (p.Glu796=)
c.1969G= (p.Glu657=)
c.2671G= (p.Glu891=)
c.2261G=
c.2247G=
c.2348G=
c.2273G=
c.*2591G= (n.*2591G=)
c.2284G= (p.Glu762=)
19g.40395966C>GCA405896401PRXc.2386G>C (p.Glu796Gln)
c.1969G>C (p.Glu657Gln)
c.2671G>C (p.Glu891Gln)
c.2261G>C
c.2247G>C
c.2348G>C
c.2273G>C
c.*2591G>C (n.*2591G>C)
c.2284G>C (p.Glu762Gln)
19g.40395966C>TCA405896402PRXc.2386G>A (p.Glu796Lys)
c.1969G>A (p.Glu657Lys)
c.2671G>A (p.Glu891Lys)
c.2261G>A
c.2247G>A
c.2348G>A
c.2273G>A
c.*2591G>A (n.*2591G>A)
c.2284G>A (p.Glu762Lys)
dbSNP COSMIC
19g.40395967C>ACA405896403PRXc.2385G>T (p.Met795Ile)
c.1968G>T (p.Met656Ile)
c.2670G>T (p.Met890Ile)
c.2260G>T
c.2246G>T
c.2347G>T
c.2272G>T
c.*2590G>T (n.*2590G>T)
c.2283G>T (p.Met761Ile)
19g.40395967C=CA2335961401PRXc.2385G= (p.Met795=)
c.1968G= (p.Met656=)
c.2670G= (p.Met890=)
c.2260G=
c.2246G=
c.2347G=
c.2272G=
c.*2590G= (n.*2590G=)
c.2283G= (p.Met761=)
19g.40395967C>GCA405896404PRXc.2385G>C (p.Met795Ile)
c.1968G>C (p.Met656Ile)
c.2670G>C (p.Met890Ile)
c.2260G>C
c.2246G>C
c.2347G>C
c.2272G>C
c.*2590G>C (n.*2590G>C)
c.2283G>C (p.Met761Ile)
19g.40395967C>TCA308418338PRXc.2385G>A (p.Met795Ile)
c.1968G>A (p.Met656Ile)
c.2670G>A (p.Met890Ile)
c.2260G>A
c.2246G>A
c.2347G>A
c.2272G>A
c.*2590G>A (n.*2590G>A)
c.2283G>A (p.Met761Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
19g.40395968A=CA2335961402PRXc.2384T= (p.Met795=)
c.1967T= (p.Met656=)
c.2669T= (p.Met890=)
c.2259T=
c.2245T=
c.2346T=
c.2271T=
c.*2589T= (n.*2589T=)
c.2282T= (p.Met761=)
19g.40395968A>CCA405896405PRXc.2384T>G (p.Met795Arg)
c.1967T>G (p.Met656Arg)
c.2669T>G (p.Met890Arg)
c.2259T>G
c.2245T>G
c.2346T>G
c.2271T>G
c.*2589T>G (n.*2589T>G)
c.2282T>G (p.Met761Arg)
19g.40395968A>GCA9444064PRXc.2384T>C (p.Met795Thr)
c.1967T>C (p.Met656Thr)
c.2669T>C (p.Met890Thr)
c.2259T>C
c.2245T>C
c.2346T>C
c.2271T>C
c.*2589T>C (n.*2589T>C)
c.2282T>C (p.Met761Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40395968A>TCA405896406PRXc.2384T>A (p.Met795Lys)
c.1967T>A (p.Met656Lys)
c.2669T>A (p.Met890Lys)
c.2259T>A
c.2245T>A
c.2346T>A
c.2271T>A
c.*2589T>A (n.*2589T>A)
c.2282T>A (p.Met761Lys)
19g.40395969T>ACA405896408PRXc.2383A>T (p.Met795Leu)
c.1966A>T (p.Met656Leu)
c.2668A>T (p.Met890Leu)
c.2258A>T
c.2244A>T
c.2345A>T
c.2270A>T
c.*2588A>T (n.*2588A>T)
c.2281A>T (p.Met761Leu)
dbSNP gnomAD v4
19g.40395969T>CCA405896409PRXc.2383A>G (p.Met795Val)
c.1966A>G (p.Met656Val)
c.2668A>G (p.Met890Val)
c.2258A>G
c.2244A>G
c.2345A>G
c.2270A>G
c.*2588A>G (n.*2588A>G)
c.2281A>G (p.Met761Val)
ClinVar gnomAD v4
19g.40395969T>GCA405896407PRXc.2383A>C (p.Met795Leu)
c.1966A>C (p.Met656Leu)
c.2668A>C (p.Met890Leu)
c.2258A>C
c.2244A>C
c.2345A>C
c.2270A>C
c.*2588A>C (n.*2588A>C)
c.2281A>C (p.Met761Leu)
19g.40395969T=CA2335961403PRXc.2383A= (p.Met795=)
c.1966A= (p.Met656=)
c.2668A= (p.Met890=)
c.2258A=
c.2244A=
c.2345A=
c.2270A=
c.*2588A= (n.*2588A=)
c.2281A= (p.Met761=)
19g.40395970C>ACA507679311PRXc.2382G>T (p.Gly794=)
c.1965G>T (p.Gly655=)
c.2667G>T (p.Gly889=)
c.2257G>T
c.2243G>T
c.2344G>T
c.2269G>T
c.*2587G>T (n.*2587G>T)
c.2280G>T (p.Gly760=)
19g.40395970C>GCA507679312PRXc.2382G>C (p.Gly794=)
c.1965G>C (p.Gly655=)
c.2667G>C (p.Gly889=)
c.2257G>C
c.2243G>C
c.2344G>C
c.2269G>C
c.*2587G>C (n.*2587G>C)
c.2280G>C (p.Gly760=)
19g.40395970C>TCA507679313PRXc.2382G>A (p.Gly794=)
c.1965G>A (p.Gly655=)
c.2667G>A (p.Gly889=)
c.2257G>A
c.2243G>A
c.2344G>A
c.2269G>A
c.*2587G>A (n.*2587G>A)
c.2280G>A (p.Gly760=)
19g.40395971C>ACA405896410PRXc.2381G>T (p.Gly794Val)
c.1964G>T (p.Gly655Val)
c.2666G>T (p.Gly889Val)
c.2256G>T
c.2242G>T
c.2343G>T
c.2268G>T
c.*2586G>T (n.*2586G>T)
c.2279G>T (p.Gly760Val)
19g.40395971C>GCA405896411PRXc.2381G>C (p.Gly794Ala)
c.1964G>C (p.Gly655Ala)
c.2666G>C (p.Gly889Ala)
c.2256G>C
c.2242G>C
c.2343G>C
c.2268G>C
c.*2586G>C (n.*2586G>C)
c.2279G>C (p.Gly760Ala)
19g.40395971C>TCA405896412PRXc.2381G>A (p.Gly794Glu)
c.1964G>A (p.Gly655Glu)
c.2666G>A (p.Gly889Glu)
c.2256G>A
c.2242G>A
c.2343G>A
c.2268G>A
c.*2586G>A (n.*2586G>A)
c.2279G>A (p.Gly760Glu)
19g.40395972C>ACA405896413PRXc.2380G>T (p.Gly794Trp)
c.1963G>T (p.Gly655Trp)
c.2665G>T (p.Gly889Trp)
c.2255G>T
c.2241G>T
c.2342G>T
c.2267G>T
c.*2585G>T (n.*2585G>T)
c.2278G>T (p.Gly760Trp)
19g.40395972C=CA2335961404PRXc.2380G= (p.Gly794=)
c.1963G= (p.Gly655=)
c.2665G= (p.Gly889=)
c.2255G=
c.2241G=
c.2342G=
c.2267G=
c.*2585G= (n.*2585G=)
c.2278G= (p.Gly760=)
19g.40395972C>GCA405896414PRXc.2380G>C (p.Gly794Arg)
c.1963G>C (p.Gly655Arg)
c.2665G>C (p.Gly889Arg)
c.2255G>C
c.2241G>C
c.2342G>C
c.2267G>C
c.*2585G>C (n.*2585G>C)
c.2278G>C (p.Gly760Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40395972C>TCA405896415PRXc.2380G>A (p.Gly794Arg)
c.1963G>A (p.Gly655Arg)
c.2665G>A (p.Gly889Arg)
c.2255G>A
c.2241G>A
c.2342G>A
c.2267G>A
c.*2585G>A (n.*2585G>A)
c.2278G>A (p.Gly760Arg)
19g.40395973T>ACA405896416PRXc.2379A>T (p.Glu793Asp)
c.1962A>T (p.Glu654Asp)
c.2664A>T (p.Glu888Asp)
c.2254A>T
c.2240A>T
c.2341A>T
c.2266A>T
c.*2584A>T (n.*2584A>T)
c.2277A>T (p.Glu759Asp)
19g.40395973T>CCA507679317PRXc.2379A>G (p.Glu793=)
c.1962A>G (p.Glu654=)
c.2664A>G (p.Glu888=)
c.2254A>G
c.2240A>G
c.2341A>G
c.2266A>G
c.*2584A>G (n.*2584A>G)
c.2277A>G (p.Glu759=)
19g.40395973T>GCA405896417PRXc.2379A>C (p.Glu793Asp)
c.1962A>C (p.Glu654Asp)
c.2664A>C (p.Glu888Asp)
c.2254A>C
c.2240A>C
c.2341A>C
c.2266A>C
c.*2584A>C (n.*2584A>C)
c.2277A>C (p.Glu759Asp)
19g.40395974T>ACA405896418PRXc.2378A>T (p.Glu793Val)
c.1961A>T (p.Glu654Val)
c.2663A>T (p.Glu888Val)
c.2253A>T
c.2239A>T
c.2340A>T
c.2265A>T
c.*2583A>T (n.*2583A>T)
c.2276A>T (p.Glu759Val)
19g.40395974T>CCA405896419PRXc.2378A>G (p.Glu793Gly)
c.1961A>G (p.Glu654Gly)
c.2663A>G (p.Glu888Gly)
c.2253A>G
c.2239A>G
c.2340A>G
c.2265A>G
c.*2583A>G (n.*2583A>G)
c.2276A>G (p.Glu759Gly)
19g.40395974T>GCA405896420PRXc.2378A>C (p.Glu793Ala)
c.1961A>C (p.Glu654Ala)
c.2663A>C (p.Glu888Ala)
c.2253A>C
c.2239A>C
c.2340A>C
c.2265A>C
c.*2583A>C (n.*2583A>C)
c.2276A>C (p.Glu759Ala)
19g.40395975C>ACA405896421PRXc.2377G>T (p.Glu793Ter)
c.1960G>T (p.Glu654Ter)
c.2662G>T (p.Glu888Ter)
c.2252G>T
c.2238G>T
c.2339G>T
c.2264G>T
c.*2582G>T (n.*2582G>T)
c.2275G>T (p.Glu759Ter)
19g.40395975C=CA2335961405PRXc.2377G= (p.Glu793=)
c.1960G= (p.Glu654=)
c.2662G= (p.Glu888=)
c.2252G=
c.2238G=
c.2339G=
c.2264G=
c.*2582G= (n.*2582G=)
c.2275G= (p.Glu759=)
19g.40395975C>GCA9444065PRXc.2377G>C (p.Glu793Gln)
c.1960G>C (p.Glu654Gln)
c.2662G>C (p.Glu888Gln)
c.2252G>C
c.2238G>C
c.2339G>C
c.2264G>C
c.*2582G>C (n.*2582G>C)
c.2275G>C (p.Glu759Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40395975C>TCA405896422PRXc.2377G>A (p.Glu793Lys)
c.1960G>A (p.Glu654Lys)
c.2662G>A (p.Glu888Lys)
c.2252G>A
c.2238G>A
c.2339G>A
c.2264G>A
c.*2582G>A (n.*2582G>A)
c.2275G>A (p.Glu759Lys)
19g.40395976T>ACA507679323PRXc.2376A>T (p.Ala792=)
c.1959A>T (p.Ala653=)
c.2661A>T (p.Ala887=)
c.2251A>T
c.2237A>T
c.2338A>T
c.2263A>T
c.*2581A>T (n.*2581A>T)
c.2274A>T (p.Ala758=)
19g.40395976T>CCA507679324PRXc.2376A>G (p.Ala792=)
c.1959A>G (p.Ala653=)
c.2661A>G (p.Ala887=)
c.2251A>G
c.2237A>G
c.2338A>G
c.2263A>G
c.*2581A>G (n.*2581A>G)
c.2274A>G (p.Ala758=)
dbSNP
19g.40395976T>GCA507679325PRXc.2376A>C (p.Ala792=)
c.1959A>C (p.Ala653=)
c.2661A>C (p.Ala887=)
c.2251A>C
c.2237A>C
c.2338A>C
c.2263A>C
c.*2581A>C (n.*2581A>C)
c.2274A>C (p.Ala758=)
19g.40395977G>ACA405896424PRXc.2375C>T (p.Ala792Val)
c.1958C>T (p.Ala653Val)
c.2660C>T (p.Ala887Val)
c.2250C>T
c.2236C>T
c.2337C>T
c.2262C>T
c.*2580C>T (n.*2580C>T)
c.2273C>T (p.Ala758Val)
gnomAD v4
19g.40395977G>CCA405896425PRXc.2375C>G (p.Ala792Gly)
c.1958C>G (p.Ala653Gly)
c.2660C>G (p.Ala887Gly)
c.2250C>G
c.2236C>G
c.2337C>G
c.2262C>G
c.*2580C>G (n.*2580C>G)
c.2273C>G (p.Ala758Gly)
19g.40395977G>TCA405896423PRXc.2375C>A (p.Ala792Glu)
c.1958C>A (p.Ala653Glu)
c.2660C>A (p.Ala887Glu)
c.2250C>A
c.2236C>A
c.2337C>A
c.2262C>A
c.*2580C>A (n.*2580C>A)
c.2273C>A (p.Ala758Glu)
19g.40395978C>ACA405896428PRXc.2374G>T (p.Ala792Ser)
c.1957G>T (p.Ala653Ser)
c.2659G>T (p.Ala887Ser)
c.2249G>T
c.2235G>T
c.2336G>T
c.2261G>T
c.*2579G>T (n.*2579G>T)
c.2272G>T (p.Ala758Ser)
ClinVar
19g.40395978C>GCA405896426PRXc.2374G>C (p.Ala792Pro)
c.1957G>C (p.Ala653Pro)
c.2659G>C (p.Ala887Pro)
c.2249G>C
c.2235G>C
c.2336G>C
c.2261G>C
c.*2579G>C (n.*2579G>C)
c.2272G>C (p.Ala758Pro)
19g.40395978C>TCA405896427PRXc.2374G>A (p.Ala792Thr)
c.1957G>A (p.Ala653Thr)
c.2659G>A (p.Ala887Thr)
c.2249G>A
c.2235G>A
c.2336G>A
c.2261G>A
c.*2579G>A (n.*2579G>A)
c.2272G>A (p.Ala758Thr)
gnomAD v4
19g.40395979C>ACA405896429PRXc.2373G>T (p.Gln791His)
c.1956G>T (p.Gln652His)
c.2658G>T (p.Gln886His)
c.2248G>T
c.2234G>T
c.2335G>T
c.2260G>T
c.*2578G>T (n.*2578G>T)
c.2271G>T (p.Gln757His)
19g.40395979C=CA2335961406PRXc.2373G= (p.Gln791=)
c.1956G= (p.Gln652=)
c.2658G= (p.Gln886=)
c.2248G=
c.2234G=
c.2335G=
c.2260G=
c.*2578G= (n.*2578G=)
c.2271G= (p.Gln757=)
19g.40395979C>GCA9444066PRXc.2373G>C (p.Gln791His)
c.1956G>C (p.Gln652His)
c.2658G>C (p.Gln886His)
c.2248G>C
c.2234G>C
c.2335G>C
c.2260G>C
c.*2578G>C (n.*2578G>C)
c.2271G>C (p.Gln757His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40395979C>TCA507679329PRXc.2373G>A (p.Gln791=)
c.1956G>A (p.Gln652=)
c.2658G>A (p.Gln886=)
c.2248G>A
c.2234G>A
c.2335G>A
c.2260G>A
c.*2578G>A (n.*2578G>A)
c.2271G>A (p.Gln757=)
19g.40395980T>ACA405896430PRXc.2372A>T (p.Gln791Leu)
c.1955A>T (p.Gln652Leu)
c.2657A>T (p.Gln886Leu)
c.2247A>T
c.2233A>T
c.2334A>T
c.2259A>T
c.*2577A>T (n.*2577A>T)
c.2270A>T (p.Gln757Leu)
19g.40395980T>CCA405896431PRXc.2372A>G (p.Gln791Arg)
c.1955A>G (p.Gln652Arg)
c.2657A>G (p.Gln886Arg)
c.2247A>G
c.2233A>G
c.2334A>G
c.2259A>G
c.*2577A>G (n.*2577A>G)
c.2270A>G (p.Gln757Arg)
gnomAD v4
19g.40395980T>GCA405896432PRXc.2372A>C (p.Gln791Pro)
c.1955A>C (p.Gln652Pro)
c.2657A>C (p.Gln886Pro)
c.2247A>C
c.2233A>C
c.2334A>C
c.2259A>C
c.*2577A>C (n.*2577A>C)
c.2270A>C (p.Gln757Pro)
19g.40395981G>ACA405896435PRXc.2371C>T (p.Gln791Ter)
c.1954C>T (p.Gln652Ter)
c.2656C>T (p.Gln886Ter)
c.2246C>T
c.2232C>T
c.2333C>T
c.2258C>T
c.*2576C>T (n.*2576C>T)
c.2269C>T (p.Gln757Ter)
gnomAD v4
19g.40395981G>CCA405896433PRXc.2371C>G (p.Gln791Glu)
c.1954C>G (p.Gln652Glu)
c.2656C>G (p.Gln886Glu)
c.2246C>G
c.2232C>G
c.2333C>G
c.2258C>G
c.*2576C>G (n.*2576C>G)
c.2269C>G (p.Gln757Glu)
19g.40395981G>TCA405896434PRXc.2371C>A (p.Gln791Lys)
c.1954C>A (p.Gln652Lys)
c.2656C>A (p.Gln886Lys)
c.2246C>A
c.2232C>A
c.2333C>A
c.2258C>A
c.*2576C>A (n.*2576C>A)
c.2269C>A (p.Gln757Lys)
19g.40395982T>ACA405896436PRXc.2370A>T (p.Glu790Asp)
c.1953A>T (p.Glu651Asp)
c.2655A>T (p.Glu885Asp)
c.2245A>T
c.2231A>T
c.2332A>T
c.2257A>T
c.*2575A>T (n.*2575A>T)
c.2268A>T (p.Glu756Asp)
19g.40395982T>CCA507679332PRXc.2370A>G (p.Glu790=)
c.1953A>G (p.Glu651=)
c.2655A>G (p.Glu885=)
c.2245A>G
c.2231A>G
c.2332A>G
c.2257A>G
c.*2575A>G (n.*2575A>G)
c.2268A>G (p.Glu756=)
19g.40395982T>GCA405896437PRXc.2370A>C (p.Glu790Asp)
c.1953A>C (p.Glu651Asp)
c.2655A>C (p.Glu885Asp)
c.2245A>C
c.2231A>C
c.2332A>C
c.2257A>C
c.*2575A>C (n.*2575A>C)
c.2268A>C (p.Glu756Asp)
19g.40395983T>ACA405896438PRXc.2369A>T (p.Glu790Val)
c.1952A>T (p.Glu651Val)
c.2654A>T (p.Glu885Val)
c.2244A>T
c.2230A>T
c.2331A>T
c.2256A>T
c.*2574A>T (n.*2574A>T)
c.2267A>T (p.Glu756Val)
19g.40395983T>CCA405896439PRXc.2369A>G (p.Glu790Gly)
c.1952A>G (p.Glu651Gly)
c.2654A>G (p.Glu885Gly)
c.2244A>G
c.2230A>G
c.2331A>G
c.2256A>G
c.*2574A>G (n.*2574A>G)
c.2267A>G (p.Glu756Gly)
19g.40395983T>GCA405896440PRXc.2369A>C (p.Glu790Ala)
c.1952A>C (p.Glu651Ala)
c.2654A>C (p.Glu885Ala)
c.2244A>C
c.2230A>C
c.2331A>C
c.2256A>C
c.*2574A>C (n.*2574A>C)
c.2267A>C (p.Glu756Ala)
19g.40395984C>ACA405896441PRXc.2368G>T (p.Glu790Ter)
c.1951G>T (p.Glu651Ter)
c.2653G>T (p.Glu885Ter)
c.2243G>T
c.2229G>T
c.2330G>T
c.2255G>T
c.*2573G>T (n.*2573G>T)
c.2266G>T (p.Glu756Ter)
19g.40395984C=CA2335961407PRXc.2368G= (p.Glu790=)
c.1951G= (p.Glu651=)
c.2653G= (p.Glu885=)
c.2243G=
c.2229G=
c.2330G=
c.2255G=
c.*2573G= (n.*2573G=)
c.2266G= (p.Glu756=)
19g.40395984C>GCA405896443PRXc.2368G>C (p.Glu790Gln)
c.1951G>C (p.Glu651Gln)
c.2653G>C (p.Glu885Gln)
c.2243G>C
c.2229G>C
c.2330G>C
c.2255G>C
c.*2573G>C (n.*2573G>C)
c.2266G>C (p.Glu756Gln)
COSMIC
19g.40395984C>TCA405896442PRXc.2368G>A (p.Glu790Lys)
c.1951G>A (p.Glu651Lys)
c.2653G>A (p.Glu885Lys)
c.2243G>A
c.2229G>A
c.2330G>A
c.2255G>A
c.*2573G>A (n.*2573G>A)
c.2266G>A (p.Glu756Lys)
dbSNP gnomAD v2 gnomAD v4
19g.40395986_40395989delCA2585127076PRXc.2365_2368del (p.Ala789AsnfsTer15)
c.1948_1951del (p.Ala650AsnfsTer15)
c.2650_2653del (p.Ala884AsnfsTer15)
c.2240_2243del
c.2226_2229del
c.2327_2330del
c.2252_2255del
c.*2570_*2573del (n.*2570_*2573del)
c.2263_2266del (p.Ala755AsnfsTer15)
gnomAD v4
19g.40395985T>ACA507679339PRXc.2367A>T (p.Ala789=)
c.1950A>T (p.Ala650=)
c.2652A>T (p.Ala884=)
c.2242A>T
c.2228A>T
c.2329A>T
c.2254A>T
c.*2572A>T (n.*2572A>T)
c.2265A>T (p.Ala755=)
19g.40395985T>CCA507679341PRXc.2367A>G (p.Ala789=)
c.1950A>G (p.Ala650=)
c.2652A>G (p.Ala884=)
c.2242A>G
c.2228A>G
c.2329A>G
c.2254A>G
c.*2572A>G (n.*2572A>G)
c.2265A>G (p.Ala755=)
gnomAD v4
19g.40395985T>GCA507679343PRXc.2367A>C (p.Ala789=)
c.1950A>C (p.Ala650=)
c.2652A>C (p.Ala884=)
c.2242A>C
c.2228A>C
c.2329A>C
c.2254A>C
c.*2572A>C (n.*2572A>C)
c.2265A>C (p.Ala755=)
19g.40395986G>ACA405896444PRXc.2366C>T (p.Ala789Val)
c.1949C>T (p.Ala650Val)
c.2651C>T (p.Ala884Val)
c.2241C>T
c.2227C>T
c.2328C>T
c.2253C>T
c.*2571C>T (n.*2571C>T)
c.2264C>T (p.Ala755Val)
gnomAD v4
19g.40395986G>CCA405896445PRXc.2366C>G (p.Ala789Gly)
c.1949C>G (p.Ala650Gly)
c.2651C>G (p.Ala884Gly)
c.2241C>G
c.2227C>G
c.2328C>G
c.2253C>G
c.*2571C>G (n.*2571C>G)
c.2264C>G (p.Ala755Gly)
19g.40395986G>TCA405896446PRXc.2366C>A (p.Ala789Glu)
c.1949C>A (p.Ala650Glu)
c.2651C>A (p.Ala884Glu)
c.2241C>A
c.2227C>A
c.2328C>A
c.2253C>A
c.*2571C>A (n.*2571C>A)
c.2264C>A (p.Ala755Glu)
gnomAD v4
19g.40395987C>ACA405896447PRXc.2365G>T (p.Ala789Ser)
c.1948G>T (p.Ala650Ser)
c.2650G>T (p.Ala884Ser)
c.2240G>T
c.2226G>T
c.2327G>T
c.2252G>T
c.*2570G>T (n.*2570G>T)
c.2263G>T (p.Ala755Ser)
19g.40395987C>GCA405896448PRXc.2365G>C (p.Ala789Pro)
c.1948G>C (p.Ala650Pro)
c.2650G>C (p.Ala884Pro)
c.2240G>C
c.2226G>C
c.2327G>C
c.2252G>C
c.*2570G>C (n.*2570G>C)
c.2263G>C (p.Ala755Pro)
19g.40395987C>TCA405896449PRXc.2365G>A (p.Ala789Thr)
c.1948G>A (p.Ala650Thr)
c.2650G>A (p.Ala884Thr)
c.2240G>A
c.2226G>A
c.2327G>A
c.2252G>A
c.*2570G>A (n.*2570G>A)
c.2263G>A (p.Ala755Thr)
COSMIC
19g.40395988C>ACA405896450PRXc.2364G>T (p.Lys788Asn)
c.1947G>T (p.Lys649Asn)
c.2649G>T (p.Lys883Asn)
c.2239G>T
c.2225G>T
c.2326G>T
c.2251G>T
c.*2569G>T (n.*2569G>T)
c.2262G>T (p.Lys754Asn)
19g.40395988C>GCA405896451PRXc.2364G>C (p.Lys788Asn)
c.1947G>C (p.Lys649Asn)
c.2649G>C (p.Lys883Asn)
c.2239G>C
c.2225G>C
c.2326G>C
c.2251G>C
c.*2569G>C (n.*2569G>C)
c.2262G>C (p.Lys754Asn)
19g.40395988C>TCA507679347PRXc.2364G>A (p.Lys788=)
c.1947G>A (p.Lys649=)
c.2649G>A (p.Lys883=)
c.2239G>A
c.2225G>A
c.2326G>A
c.2251G>A
c.*2569G>A (n.*2569G>A)
c.2262G>A (p.Lys754=)
19g.40395989T>ACA405896452PRXc.2363A>T (p.Lys788Met)
c.1946A>T (p.Lys649Met)
c.2648A>T (p.Lys883Met)
c.2238A>T
c.2224A>T
c.2325A>T
c.2250A>T
c.*2568A>T (n.*2568A>T)
c.2261A>T (p.Lys754Met)
19g.40395989T>CCA405896453PRXc.2363A>G (p.Lys788Arg)
c.1946A>G (p.Lys649Arg)
c.2648A>G (p.Lys883Arg)
c.2238A>G
c.2224A>G
c.2325A>G
c.2250A>G
c.*2568A>G (n.*2568A>G)
c.2261A>G (p.Lys754Arg)
19g.40395989T>GCA405896454PRXc.2363A>C (p.Lys788Thr)
c.1946A>C (p.Lys649Thr)
c.2648A>C (p.Lys883Thr)
c.2238A>C
c.2224A>C
c.2325A>C
c.2250A>C
c.*2568A>C (n.*2568A>C)
c.2261A>C (p.Lys754Thr)
19g.40395990T>ACA405896455PRXc.2362A>T (p.Lys788Ter)
c.1945A>T (p.Lys649Ter)
c.2647A>T (p.Lys883Ter)
c.2237A>T
c.2223A>T
c.2324A>T
c.2249A>T
c.*2567A>T (n.*2567A>T)
c.2260A>T (p.Lys754Ter)
ClinVar
19g.40395990T>CCA405896457PRXc.2362A>G (p.Lys788Glu)
c.1945A>G (p.Lys649Glu)
c.2647A>G (p.Lys883Glu)
c.2237A>G
c.2223A>G
c.2324A>G
c.2249A>G
c.*2567A>G (n.*2567A>G)
c.2260A>G (p.Lys754Glu)
gnomAD v4
19g.40395990T>GCA405896456PRXc.2362A>C (p.Lys788Gln)
c.1945A>C (p.Lys649Gln)
c.2647A>C (p.Lys883Gln)
c.2237A>C
c.2223A>C
c.2324A>C
c.2249A>C
c.*2567A>C (n.*2567A>C)
c.2260A>C (p.Lys754Gln)
19g.40395991G>ACA507679348PRXc.2361C>T (p.Thr787=)
c.1944C>T (p.Thr648=)
c.2646C>T (p.Thr882=)
c.2236C>T
c.2222C>T
c.2323C>T
c.2248C>T
c.*2566C>T (n.*2566C>T)
c.2259C>T (p.Thr753=)
19g.40395991G>CCA507679351PRXc.2361C>G (p.Thr787=)
c.1944C>G (p.Thr648=)
c.2646C>G (p.Thr882=)
c.2236C>G
c.2222C>G
c.2323C>G
c.2248C>G
c.*2566C>G (n.*2566C>G)
c.2259C>G (p.Thr753=)
19g.40395991G>TCA507679353PRXc.2361C>A (p.Thr787=)
c.1944C>A (p.Thr648=)
c.2646C>A (p.Thr882=)
c.2236C>A
c.2222C>A
c.2323C>A
c.2248C>A
c.*2566C>A (n.*2566C>A)
c.2259C>A (p.Thr753=)
19g.40395992G>ACA405896458PRXc.2360C>T (p.Thr787Ile)
c.1943C>T (p.Thr648Ile)
c.2645C>T (p.Thr882Ile)
c.2235C>T
c.2221C>T
c.2322C>T
c.2247C>T
c.*2565C>T (n.*2565C>T)
c.2258C>T (p.Thr753Ile)
19g.40395992G>CCA405896459PRXc.2360C>G (p.Thr787Ser)
c.1943C>G (p.Thr648Ser)
c.2645C>G (p.Thr882Ser)
c.2235C>G
c.2221C>G
c.2322C>G
c.2247C>G
c.*2565C>G (n.*2565C>G)
c.2258C>G (p.Thr753Ser)
19g.40395992G>TCA405896460PRXc.2360C>A (p.Thr787Asn)
c.1943C>A (p.Thr648Asn)
c.2645C>A (p.Thr882Asn)
c.2235C>A
c.2221C>A
c.2322C>A
c.2247C>A
c.*2565C>A (n.*2565C>A)
c.2258C>A (p.Thr753Asn)
19g.40395993delCA2585127077PRXc.2359del (p.Thr787ProfsTer18)
c.1942del (p.Thr648ProfsTer18)
c.2644del (p.Thr882ProfsTer18)
c.2234del
c.2220del
c.2321del
c.2246del
c.*2564del (n.*2564del)
c.2257del (p.Thr753ProfsTer18)
gnomAD v4
19g.40395993T>ACA9444067PRXc.2359A>T (p.Thr787Ser)
c.1942A>T (p.Thr648Ser)
c.2644A>T (p.Thr882Ser)
c.2234A>T
c.2220A>T
c.2321A>T
c.2246A>T
c.*2564A>T (n.*2564A>T)
c.2257A>T (p.Thr753Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40395993T>CCA405896461PRXc.2359A>G (p.Thr787Ala)
c.1942A>G (p.Thr648Ala)
c.2644A>G (p.Thr882Ala)
c.2234A>G
c.2220A>G
c.2321A>G
c.2246A>G
c.*2564A>G (n.*2564A>G)
c.2257A>G (p.Thr753Ala)
dbSNP
19g.40395993T>GCA405896462PRXc.2359A>C (p.Thr787Pro)
c.1942A>C (p.Thr648Pro)
c.2644A>C (p.Thr882Pro)
c.2234A>C
c.2220A>C
c.2321A>C
c.2246A>C
c.*2564A>C (n.*2564A>C)
c.2257A>C (p.Thr753Pro)
19g.40395993T=CA2335961408PRXc.2359A= (p.Thr787=)
c.1942A= (p.Thr648=)
c.2644A= (p.Thr882=)
c.2234A=
c.2220A=
c.2321A=
c.2246A=
c.*2564A= (n.*2564A=)
c.2257A= (p.Thr753=)
19g.40395994G>ACA507679358PRXc.2358C>T (p.Ala786=)
c.1941C>T (p.Ala647=)
c.2643C>T (p.Ala881=)
c.2233C>T
c.2219C>T
c.2320C>T
c.2245C>T
c.*2563C>T (n.*2563C>T)
c.2256C>T (p.Ala752=)
19g.40395994G>CCA507679359PRXc.2358C>G (p.Ala786=)
c.1941C>G (p.Ala647=)
c.2643C>G (p.Ala881=)
c.2233C>G
c.2219C>G
c.2320C>G
c.2245C>G
c.*2563C>G (n.*2563C>G)
c.2256C>G (p.Ala752=)
19g.40395994G>TCA507679360PRXc.2358C>A (p.Ala786=)
c.1941C>A (p.Ala647=)
c.2643C>A (p.Ala881=)
c.2233C>A
c.2219C>A
c.2320C>A
c.2245C>A
c.*2563C>A (n.*2563C>A)
c.2256C>A (p.Ala752=)
19g.40395995G>ACA405896463PRXc.2357C>T (p.Ala786Val)
c.1940C>T (p.Ala647Val)
c.2642C>T (p.Ala881Val)
c.2232C>T
c.2218C>T
c.2319C>T
c.2244C>T
c.*2562C>T (n.*2562C>T)
c.2255C>T (p.Ala752Val)
dbSNP gnomAD v2 gnomAD v4
19g.40395995G>CCA405896464PRXc.2357C>G (p.Ala786Gly)
c.1940C>G (p.Ala647Gly)
c.2642C>G (p.Ala881Gly)
c.2232C>G
c.2218C>G
c.2319C>G
c.2244C>G
c.*2562C>G (n.*2562C>G)
c.2255C>G (p.Ala752Gly)
19g.40395995G=CA2335961409PRXc.2357C= (p.Ala786=)
c.1940C= (p.Ala647=)
c.2642C= (p.Ala881=)
c.2232C=
c.2218C=
c.2319C=
c.2244C=
c.*2562C= (n.*2562C=)
c.2255C= (p.Ala752=)
19g.40395995G>TCA405896465PRXc.2357C>A (p.Ala786Asp)
c.1940C>A (p.Ala647Asp)
c.2642C>A (p.Ala881Asp)
c.2232C>A
c.2218C>A
c.2319C>A
c.2244C>A
c.*2562C>A (n.*2562C>A)
c.2255C>A (p.Ala752Asp)
19g.40395996C>ACA405896466PRXc.2356G>T (p.Ala786Ser)
c.1939G>T (p.Ala647Ser)
c.2641G>T (p.Ala881Ser)
c.2231G>T
c.2217G>T
c.2318G>T
c.2243G>T
c.*2561G>T (n.*2561G>T)
c.2254G>T (p.Ala752Ser)
gnomAD v4
19g.40395996C>GCA405896467PRXc.2356G>C (p.Ala786Pro)
c.1939G>C (p.Ala647Pro)
c.2641G>C (p.Ala881Pro)
c.2231G>C
c.2217G>C
c.2318G>C
c.2243G>C
c.*2561G>C (n.*2561G>C)
c.2254G>C (p.Ala752Pro)
19g.40395996C>TCA405896468PRXc.2356G>A (p.Ala786Thr)
c.1939G>A (p.Ala647Thr)
c.2641G>A (p.Ala881Thr)
c.2231G>A
c.2217G>A
c.2318G>A
c.2243G>A
c.*2561G>A (n.*2561G>A)
c.2254G>A (p.Ala752Thr)
19g.40395997C>ACA405896470PRXc.2355G>T (p.Lys785Asn)
c.1938G>T (p.Lys646Asn)
c.2640G>T (p.Lys880Asn)
c.2230G>T
c.2216G>T
c.2317G>T
c.2242G>T
c.*2560G>T (n.*2560G>T)
c.2253G>T (p.Lys751Asn)
19g.40395997C>GCA405896469PRXc.2355G>C (p.Lys785Asn)
c.1938G>C (p.Lys646Asn)
c.2640G>C (p.Lys880Asn)
c.2230G>C
c.2216G>C
c.2317G>C
c.2242G>C
c.*2560G>C (n.*2560G>C)
c.2253G>C (p.Lys751Asn)
19g.40395997C>TCA507679362PRXc.2355G>A (p.Lys785=)
c.1938G>A (p.Lys646=)
c.2640G>A (p.Lys880=)
c.2230G>A
c.2216G>A
c.2317G>A
c.2242G>A
c.*2560G>A (n.*2560G>A)
c.2253G>A (p.Lys751=)
ClinVar dbSNP gnomAD v4
19g.40395998T>ACA405896471PRXc.2354A>T (p.Lys785Met)
c.1937A>T (p.Lys646Met)
c.2639A>T (p.Lys880Met)
c.2229A>T
c.2215A>T
c.2316A>T
c.2241A>T
c.*2559A>T (n.*2559A>T)
c.2252A>T (p.Lys751Met)
19g.40395998T>CCA405896472PRXc.2354A>G (p.Lys785Arg)
c.1937A>G (p.Lys646Arg)
c.2639A>G (p.Lys880Arg)
c.2229A>G
c.2215A>G
c.2316A>G
c.2241A>G
c.*2559A>G (n.*2559A>G)
c.2252A>G (p.Lys751Arg)
19g.40395998T>GCA405896473PRXc.2354A>C (p.Lys785Thr)
c.1937A>C (p.Lys646Thr)
c.2639A>C (p.Lys880Thr)
c.2229A>C
c.2215A>C
c.2316A>C
c.2241A>C
c.*2559A>C (n.*2559A>C)
c.2252A>C (p.Lys751Thr)
19g.40396000delCA2585127078PRXc.2354del (p.Lys785ArgfsTer20)
c.1937del (p.Lys646ArgfsTer20)
c.2639del (p.Lys880ArgfsTer20)
c.2229del
c.2215del
c.2316del
c.2241del
c.*2559del (n.*2559del)
c.2252del (p.Lys751ArgfsTer20)
gnomAD v4
19g.40395999T>ACA405896474PRXc.2353A>T (p.Lys785Ter)
c.1936A>T (p.Lys646Ter)
c.2638A>T (p.Lys880Ter)
c.2228A>T
c.2214A>T
c.2315A>T
c.2240A>T
c.*2558A>T (n.*2558A>T)
c.2251A>T (p.Lys751Ter)
19g.40395999T>CCA9444068PRXc.2353A>G (p.Lys785Glu)
c.1936A>G (p.Lys646Glu)
c.2638A>G (p.Lys880Glu)
c.2228A>G
c.2214A>G
c.2315A>G
c.2240A>G
c.*2558A>G (n.*2558A>G)
c.2251A>G (p.Lys751Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40395999T>GCA405896475PRXc.2353A>C (p.Lys785Gln)
c.1936A>C (p.Lys646Gln)
c.2638A>C (p.Lys880Gln)
c.2228A>C
c.2214A>C
c.2315A>C
c.2240A>C
c.*2558A>C (n.*2558A>C)
c.2251A>C (p.Lys751Gln)
19g.40395999T=CA2335961410PRXc.2353A= (p.Lys785=)
c.1936A= (p.Lys646=)
c.2638A= (p.Lys880=)
c.2228A=
c.2214A=
c.2315A=
c.2240A=
c.*2558A= (n.*2558A=)
c.2251A= (p.Lys751=)
19g.40396000T>ACA507679370PRXc.2352A>T (p.Leu784=)
c.1935A>T (p.Leu645=)
c.2637A>T (p.Leu879=)
c.2227A>T
c.2213A>T
c.2314A>T
c.2239A>T
c.*2557A>T (n.*2557A>T)
c.2250A>T (p.Leu750=)
19g.40396000T>CCA507679371PRXc.2352A>G (p.Leu784=)
c.1935A>G (p.Leu645=)
c.2637A>G (p.Leu879=)
c.2227A>G
c.2213A>G
c.2314A>G
c.2239A>G
c.*2557A>G (n.*2557A>G)
c.2250A>G (p.Leu750=)
19g.40396000T>GCA507679372PRXc.2352A>C (p.Leu784=)
c.1935A>C (p.Leu645=)
c.2637A>C (p.Leu879=)
c.2227A>C
c.2213A>C
c.2314A>C
c.2239A>C
c.*2557A>C (n.*2557A>C)
c.2250A>C (p.Leu750=)
19g.40396001A>CCA405896476PRXc.2351T>G (p.Leu784Arg)
c.1934T>G (p.Leu645Arg)
c.2636T>G (p.Leu879Arg)
c.2226T>G
c.2212T>G
c.2313T>G
c.2238T>G
c.*2556T>G (n.*2556T>G)
c.2249T>G (p.Leu750Arg)
19g.40396001A>GCA405896477PRXc.2351T>C (p.Leu784Pro)
c.1934T>C (p.Leu645Pro)
c.2636T>C (p.Leu879Pro)
c.2226T>C
c.2212T>C
c.2313T>C
c.2238T>C
c.*2556T>C (n.*2556T>C)
c.2249T>C (p.Leu750Pro)
19g.40396001A>TCA405896478PRXc.2351T>A (p.Leu784Gln)
c.1934T>A (p.Leu645Gln)
c.2636T>A (p.Leu879Gln)
c.2226T>A
c.2212T>A
c.2313T>A
c.2238T>A
c.*2556T>A (n.*2556T>A)
c.2249T>A (p.Leu750Gln)
19g.40396002G>ACA507679376PRXc.2350C>T (p.Leu784=)
c.1933C>T (p.Leu645=)
c.2635C>T (p.Leu879=)
c.2225C>T
c.2211C>T
c.2312C>T
c.2237C>T
c.*2555C>T (n.*2555C>T)
c.2248C>T (p.Leu750=)
19g.40396002G>CCA405896479PRXc.2350C>G (p.Leu784Val)
c.1933C>G (p.Leu645Val)
c.2635C>G (p.Leu879Val)
c.2225C>G
c.2211C>G
c.2312C>G
c.2237C>G
c.*2555C>G (n.*2555C>G)
c.2248C>G (p.Leu750Val)
19g.40396002G>TCA405896480PRXc.2350C>A (p.Leu784Ile)
c.1933C>A (p.Leu645Ile)
c.2635C>A (p.Leu879Ile)
c.2225C>A
c.2211C>A
c.2312C>A
c.2237C>A
c.*2555C>A (n.*2555C>A)
c.2248C>A (p.Leu750Ile)
19g.40396003C>ACA405896481PRXc.2349G>T (p.Gln783His)
c.1932G>T (p.Gln644His)
c.2634G>T (p.Gln878His)
c.2224G>T
c.2210G>T
c.2311G>T
c.2236G>T
c.*2554G>T (n.*2554G>T)
c.2247G>T (p.Gln749His)
19g.40396003C>GCA405896482PRXc.2349G>C (p.Gln783His)
c.1932G>C (p.Gln644His)
c.2634G>C (p.Gln878His)
c.2224G>C
c.2210G>C
c.2311G>C
c.2236G>C
c.*2554G>C (n.*2554G>C)
c.2247G>C (p.Gln749His)
19g.40396003C>TCA507679378PRXc.2349G>A (p.Gln783=)
c.1932G>A (p.Gln644=)
c.2634G>A (p.Gln878=)
c.2224G>A
c.2210G>A
c.2311G>A
c.2236G>A
c.*2554G>A (n.*2554G>A)
c.2247G>A (p.Gln749=)
19g.40396004T>ACA405896484PRXc.2348A>T (p.Gln783Leu)
c.1931A>T (p.Gln644Leu)
c.2633A>T (p.Gln878Leu)
c.2223A>T
c.2209A>T
c.2310A>T
c.2235A>T
c.*2553A>T (n.*2553A>T)
c.2246A>T (p.Gln749Leu)
19g.40396004T>CCA405896485PRXc.2348A>G (p.Gln783Arg)
c.1931A>G (p.Gln644Arg)
c.2633A>G (p.Gln878Arg)
c.2223A>G
c.2209A>G
c.2310A>G
c.2235A>G
c.*2553A>G (n.*2553A>G)
c.2246A>G (p.Gln749Arg)
19g.40396004T>GCA405896483PRXc.2348A>C (p.Gln783Pro)
c.1931A>C (p.Gln644Pro)
c.2633A>C (p.Gln878Pro)
c.2223A>C
c.2209A>C
c.2310A>C
c.2235A>C
c.*2553A>C (n.*2553A>C)
c.2246A>C (p.Gln749Pro)
19g.40396005G>ACA405896488PRXc.2347C>T (p.Gln783Ter)
c.1930C>T (p.Gln644Ter)
c.2632C>T (p.Gln878Ter)
c.2222C>T
c.2208C>T
c.2309C>T
c.2234C>T
c.*2552C>T (n.*2552C>T)
c.2245C>T (p.Gln749Ter)
19g.40396005G>CCA405896486PRXc.2347C>G (p.Gln783Glu)
c.1930C>G (p.Gln644Glu)
c.2632C>G (p.Gln878Glu)
c.2222C>G
c.2208C>G
c.2309C>G
c.2234C>G
c.*2552C>G (n.*2552C>G)
c.2245C>G (p.Gln749Glu)
19g.40396005G>TCA405896487PRXc.2347C>A (p.Gln783Lys)
c.1930C>A (p.Gln644Lys)
c.2632C>A (p.Gln878Lys)
c.2222C>A
c.2208C>A
c.2309C>A
c.2234C>A
c.*2552C>A (n.*2552C>A)
c.2245C>A (p.Gln749Lys)
19g.40396006C>ACA507679384PRXc.2346G>T (p.Val782=)
c.1929G>T (p.Val643=)
c.2631G>T (p.Val877=)
c.2221G>T
c.2207G>T
c.2308G>T
c.2233G>T
c.*2551G>T (n.*2551G>T)
c.2244G>T (p.Val748=)
19g.40396006C>GCA507679385PRXc.2346G>C (p.Val782=)
c.1929G>C (p.Val643=)
c.2631G>C (p.Val877=)
c.2221G>C
c.2207G>C
c.2308G>C
c.2233G>C
c.*2551G>C (n.*2551G>C)
c.2244G>C (p.Val748=)
19g.40396006C>TCA507679386PRXc.2346G>A (p.Val782=)
c.1929G>A (p.Val643=)
c.2631G>A (p.Val877=)
c.2221G>A
c.2207G>A
c.2308G>A
c.2233G>A
c.*2551G>A (n.*2551G>A)
c.2244G>A (p.Val748=)
19g.40396007A=CA2335961411PRXc.2345T= (p.Val782=)
c.1928T= (p.Val643=)
c.2630T= (p.Val877=)
c.2220T=
c.2206T=
c.2307T=
c.2232T=
c.*2550T= (n.*2550T=)
c.2243T= (p.Val748=)
19g.40396007A>CCA9444069PRXc.2345T>G (p.Val782Gly)
c.1928T>G (p.Val643Gly)
c.2630T>G (p.Val877Gly)
c.2220T>G
c.2206T>G
c.2307T>G
c.2232T>G
c.*2550T>G (n.*2550T>G)
c.2243T>G (p.Val748Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396007A>GCA405896489PRXc.2345T>C (p.Val782Ala)
c.1928T>C (p.Val643Ala)
c.2630T>C (p.Val877Ala)
c.2220T>C
c.2206T>C
c.2307T>C
c.2232T>C
c.*2550T>C (n.*2550T>C)
c.2243T>C (p.Val748Ala)
19g.40396007A>TCA405896490PRXc.2345T>A (p.Val782Glu)
c.1928T>A (p.Val643Glu)
c.2630T>A (p.Val877Glu)
c.2220T>A
c.2206T>A
c.2307T>A
c.2232T>A
c.*2550T>A (n.*2550T>A)
c.2243T>A (p.Val748Glu)
19g.40396008C>ACA405896491PRXc.2344G>T (p.Val782Leu)
c.1927G>T (p.Val643Leu)
c.2629G>T (p.Val877Leu)
c.2219G>T
c.2205G>T
c.2306G>T
c.2231G>T
c.*2549G>T (n.*2549G>T)
c.2242G>T (p.Val748Leu)
gnomAD v4
19g.40396008C>GCA405896492PRXc.2344G>C (p.Val782Leu)
c.1927G>C (p.Val643Leu)
c.2629G>C (p.Val877Leu)
c.2219G>C
c.2205G>C
c.2306G>C
c.2231G>C
c.*2549G>C (n.*2549G>C)
c.2242G>C (p.Val748Leu)
19g.40396008C>TCA405896493PRXc.2344G>A (p.Val782Met)
c.1927G>A (p.Val643Met)
c.2629G>A (p.Val877Met)
c.2219G>A
c.2205G>A
c.2306G>A
c.2231G>A
c.*2549G>A (n.*2549G>A)
c.2242G>A (p.Val748Met)
19g.40396009C>ACA405896494PRXc.2343G>T (p.Glu781Asp)
c.1926G>T (p.Glu642Asp)
c.2628G>T (p.Glu876Asp)
c.2218G>T
c.2204G>T
c.2305G>T
c.2230G>T
c.*2548G>T (n.*2548G>T)
c.2241G>T (p.Glu747Asp)
19g.40396009C>GCA405896495PRXc.2343G>C (p.Glu781Asp)
c.1926G>C (p.Glu642Asp)
c.2628G>C (p.Glu876Asp)
c.2218G>C
c.2204G>C
c.2305G>C
c.2230G>C
c.*2548G>C (n.*2548G>C)
c.2241G>C (p.Glu747Asp)
19g.40396009C>TCA507679392PRXc.2343G>A (p.Glu781=)
c.1926G>A (p.Glu642=)
c.2628G>A (p.Glu876=)
c.2218G>A
c.2204G>A
c.2305G>A
c.2230G>A
c.*2548G>A (n.*2548G>A)
c.2241G>A (p.Glu747=)
19g.40396010T>ACA405896496PRXc.2342A>T (p.Glu781Val)
c.1925A>T (p.Glu642Val)
c.2627A>T (p.Glu876Val)
c.2217A>T
c.2203A>T
c.2304A>T
c.2229A>T
c.*2547A>T (n.*2547A>T)
c.2240A>T (p.Glu747Val)
19g.40396010T>CCA405896497PRXc.2342A>G (p.Glu781Gly)
c.1925A>G (p.Glu642Gly)
c.2627A>G (p.Glu876Gly)
c.2217A>G
c.2203A>G
c.2304A>G
c.2229A>G
c.*2547A>G (n.*2547A>G)
c.2240A>G (p.Glu747Gly)
19g.40396010T>GCA405896498PRXc.2342A>C (p.Glu781Ala)
c.1925A>C (p.Glu642Ala)
c.2627A>C (p.Glu876Ala)
c.2217A>C
c.2203A>C
c.2304A>C
c.2229A>C
c.*2547A>C (n.*2547A>C)
c.2240A>C (p.Glu747Ala)
19g.40396011C>ACA405896501PRXc.2341G>T (p.Glu781Ter)
c.1924G>T (p.Glu642Ter)
c.2626G>T (p.Glu876Ter)
c.2216G>T
c.2202G>T
c.2303G>T
c.2228G>T
c.*2546G>T (n.*2546G>T)
c.2239G>T (p.Glu747Ter)
19g.40396011C>GCA405896499PRXc.2341G>C (p.Glu781Gln)
c.1924G>C (p.Glu642Gln)
c.2626G>C (p.Glu876Gln)
c.2216G>C
c.2202G>C
c.2303G>C
c.2228G>C
c.*2546G>C (n.*2546G>C)
c.2239G>C (p.Glu747Gln)
19g.40396011C>TCA405896500PRXc.2341G>A (p.Glu781Lys)
c.1924G>A (p.Glu642Lys)
c.2626G>A (p.Glu876Lys)
c.2216G>A
c.2202G>A
c.2303G>A
c.2228G>A
c.*2546G>A (n.*2546G>A)
c.2239G>A (p.Glu747Lys)
19g.40396012C>ACA507679397PRXc.2340G>T (p.Pro780=)
c.1923G>T (p.Pro641=)
c.2625G>T (p.Pro875=)
c.2215G>T
c.2201G>T
c.2302G>T
c.2227G>T
c.*2545G>T (n.*2545G>T)
c.2238G>T (p.Pro746=)
19g.40396012C=CA2335961412PRXc.2340G= (p.Pro780=)
c.1923G= (p.Pro641=)
c.2625G= (p.Pro875=)
c.2215G=
c.2201G=
c.2302G=
c.2227G=
c.*2545G= (n.*2545G=)
c.2238G= (p.Pro746=)
19g.40396012C>GCA507679396PRXc.2340G>C (p.Pro780=)
c.1923G>C (p.Pro641=)
c.2625G>C (p.Pro875=)
c.2215G>C
c.2201G>C
c.2302G>C
c.2227G>C
c.*2545G>C (n.*2545G>C)
c.2238G>C (p.Pro746=)
gnomAD v4
19g.40396012C>TCA9444070PRXc.2340G>A (p.Pro780=)
c.1923G>A (p.Pro641=)
c.2625G>A (p.Pro875=)
c.2215G>A
c.2201G>A
c.2302G>A
c.2227G>A
c.*2545G>A (n.*2545G>A)
c.2238G>A (p.Pro746=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40396013G>ACA9444071PRXc.2339C>T (p.Pro780Leu)
c.1922C>T (p.Pro641Leu)
c.2624C>T (p.Pro875Leu)
c.2214C>T
c.2200C>T
c.2301C>T
c.2226C>T
c.*2544C>T (n.*2544C>T)
c.2237C>T (p.Pro746Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.40396013G>CCA405896502PRXc.2339C>G (p.Pro780Arg)
c.1922C>G (p.Pro641Arg)
c.2624C>G (p.Pro875Arg)
c.2214C>G
c.2200C>G
c.2301C>G
c.2226C>G
c.*2544C>G (n.*2544C>G)
c.2237C>G (p.Pro746Arg)
19g.40396013G=CA2335961413PRXc.2339C= (p.Pro780=)
c.1922C= (p.Pro641=)
c.2624C= (p.Pro875=)
c.2214C=
c.2200C=
c.2301C=
c.2226C=
c.*2544C= (n.*2544C=)
c.2237C= (p.Pro746=)
19g.40396013G>TCA405896503PRXc.2339C>A (p.Pro780Gln)
c.1922C>A (p.Pro641Gln)
c.2624C>A (p.Pro875Gln)
c.2214C>A
c.2200C>A
c.2301C>A
c.2226C>A
c.*2544C>A (n.*2544C>A)
c.2237C>A (p.Pro746Gln)
19g.40396014G>ACA405896504PRXc.2338C>T (p.Pro780Ser)
c.1921C>T (p.Pro641Ser)
c.2623C>T (p.Pro875Ser)
c.2213C>T
c.2199C>T
c.2300C>T
c.2225C>T
c.*2543C>T (n.*2543C>T)
c.2236C>T (p.Pro746Ser)
19g.40396014G>CCA405896505PRXc.2338C>G (p.Pro780Ala)
c.1921C>G (p.Pro641Ala)
c.2623C>G (p.Pro875Ala)
c.2213C>G
c.2199C>G
c.2300C>G
c.2225C>G
c.*2543C>G (n.*2543C>G)
c.2236C>G (p.Pro746Ala)
gnomAD v4
19g.40396014G>TCA405896506PRXc.2338C>A (p.Pro780Thr)
c.1921C>A (p.Pro641Thr)
c.2623C>A (p.Pro875Thr)
c.2213C>A
c.2199C>A
c.2300C>A
c.2225C>A
c.*2543C>A (n.*2543C>A)
c.2236C>A (p.Pro746Thr)
19g.40396015A>CCA507679400PRXc.2337T>G (p.Ala779=)
c.1920T>G (p.Ala640=)
c.2622T>G (p.Ala874=)
c.2212T>G
c.2198T>G
c.2299T>G
c.2224T>G
c.*2542T>G (n.*2542T>G)
c.2235T>G (p.Ala745=)
19g.40396015A>GCA507679402PRXc.2337T>C (p.Ala779=)
c.1920T>C (p.Ala640=)
c.2622T>C (p.Ala874=)
c.2212T>C
c.2198T>C
c.2299T>C
c.2224T>C
c.*2542T>C (n.*2542T>C)
c.2235T>C (p.Ala745=)
gnomAD v4
19g.40396015A>TCA507679401PRXc.2337T>A (p.Ala779=)
c.1920T>A (p.Ala640=)
c.2622T>A (p.Ala874=)
c.2212T>A
c.2198T>A
c.2299T>A
c.2224T>A
c.*2542T>A (n.*2542T>A)
c.2235T>A (p.Ala745=)
19g.40396016G>ACA405896507PRXc.2336C>T (p.Ala779Val)
c.1919C>T (p.Ala640Val)
c.2621C>T (p.Ala874Val)
c.2211C>T
c.2197C>T
c.2298C>T
c.2223C>T
c.*2541C>T (n.*2541C>T)
c.2234C>T (p.Ala745Val)
dbSNP gnomAD v2 gnomAD v4
19g.40396016G>CCA405896508PRXc.2336C>G (p.Ala779Gly)
c.1919C>G (p.Ala640Gly)
c.2621C>G (p.Ala874Gly)
c.2211C>G
c.2197C>G
c.2298C>G
c.2223C>G
c.*2541C>G (n.*2541C>G)
c.2234C>G (p.Ala745Gly)
19g.40396016G=CA2335961414PRXc.2336C= (p.Ala779=)
c.1919C= (p.Ala640=)
c.2621C= (p.Ala874=)
c.2211C=
c.2197C=
c.2298C=
c.2223C=
c.*2541C= (n.*2541C=)
c.2234C= (p.Ala745=)
19g.40396016G>TCA405896509PRXc.2336C>A (p.Ala779Asp)
c.1919C>A (p.Ala640Asp)
c.2621C>A (p.Ala874Asp)
c.2211C>A
c.2197C>A
c.2298C>A
c.2223C>A
c.*2541C>A (n.*2541C>A)
c.2234C>A (p.Ala745Asp)
19g.40396017C>ACA405896510PRXc.2335G>T (p.Ala779Ser)
c.1918G>T (p.Ala640Ser)
c.2620G>T (p.Ala874Ser)
c.2210G>T
c.2196G>T
c.2297G>T
c.2222G>T
c.*2540G>T (n.*2540G>T)
c.2233G>T (p.Ala745Ser)
19g.40396017C=CA2335961415PRXc.2335G= (p.Ala779=)
c.1918G= (p.Ala640=)
c.2620G= (p.Ala874=)
c.2210G=
c.2196G=
c.2297G=
c.2222G=
c.*2540G= (n.*2540G=)
c.2233G= (p.Ala745=)
19g.40396017C>GCA405896511PRXc.2335G>C (p.Ala779Pro)
c.1918G>C (p.Ala640Pro)
c.2620G>C (p.Ala874Pro)
c.2210G>C
c.2196G>C
c.2297G>C
c.2222G>C
c.*2540G>C (n.*2540G>C)
c.2233G>C (p.Ala745Pro)
19g.40396017C>TCA16609474PRXc.2335G>A (p.Ala779Thr)
c.1918G>A (p.Ala640Thr)
c.2620G>A (p.Ala874Thr)
c.2210G>A
c.2196G>A
c.2297G>A
c.2222G>A
c.*2540G>A (n.*2540G>A)
c.2233G>A (p.Ala745Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
19g.40396018C>ACA405896512PRXc.2334G>T (p.Arg778Ser)
c.1917G>T (p.Arg639Ser)
c.2619G>T (p.Arg873Ser)
c.2209G>T
c.2195G>T
c.2296G>T
c.2221G>T
c.*2539G>T (n.*2539G>T)
c.2232G>T (p.Arg744Ser)
19g.40396018C>GCA405896513PRXc.2334G>C (p.Arg778Ser)
c.1917G>C (p.Arg639Ser)
c.2619G>C (p.Arg873Ser)
c.2209G>C
c.2195G>C
c.2296G>C
c.2221G>C
c.*2539G>C (n.*2539G>C)
c.2232G>C (p.Arg744Ser)
19g.40396018C>TCA507679406PRXc.2334G>A (p.Arg778=)
c.1917G>A (p.Arg639=)
c.2619G>A (p.Arg873=)
c.2209G>A
c.2195G>A
c.2296G>A
c.2221G>A
c.*2539G>A (n.*2539G>A)
c.2232G>A (p.Arg744=)
gnomAD v4
19g.40396019C>ACA405896514PRXc.2333G>T (p.Arg778Met)
c.1916G>T (p.Arg639Met)
c.2618G>T (p.Arg873Met)
c.2208G>T
c.2194G>T
c.2295G>T
c.2220G>T
c.*2538G>T (n.*2538G>T)
c.2231G>T (p.Arg744Met)
19g.40396019C=CA2335961416PRXc.2333G= (p.Arg778=)
c.1916G= (p.Arg639=)
c.2618G= (p.Arg873=)
c.2208G=
c.2194G=
c.2295G=
c.2220G=
c.*2538G= (n.*2538G=)
c.2231G= (p.Arg744=)
19g.40396019C>GCA405896515PRXc.2333G>C (p.Arg778Thr)
c.1916G>C (p.Arg639Thr)
c.2618G>C (p.Arg873Thr)
c.2208G>C
c.2194G>C
c.2295G>C
c.2220G>C
c.*2538G>C (n.*2538G>C)
c.2231G>C (p.Arg744Thr)
dbSNP
19g.40396019C>TCA405896516PRXc.2333G>A (p.Arg778Lys)
c.1916G>A (p.Arg639Lys)
c.2618G>A (p.Arg873Lys)
c.2208G>A
c.2194G>A
c.2295G>A
c.2220G>A
c.*2538G>A (n.*2538G>A)
c.2231G>A (p.Arg744Lys)
gnomAD v4
19g.40396020T>ACA405896517PRXc.2332A>T (p.Arg778Trp)
c.1915A>T (p.Arg639Trp)
c.2617A>T (p.Arg873Trp)
c.2207A>T
c.2193A>T
c.2294A>T
c.2219A>T
c.*2537A>T (n.*2537A>T)
c.2230A>T (p.Arg744Trp)
19g.40396020T>CCA405896518PRXc.2332A>G (p.Arg778Gly)
c.1915A>G (p.Arg639Gly)
c.2617A>G (p.Arg873Gly)
c.2207A>G
c.2193A>G
c.2294A>G
c.2219A>G
c.*2537A>G (n.*2537A>G)
c.2230A>G (p.Arg744Gly)
ClinVar dbSNP
19g.40396020T>GCA507679411PRXc.2332A>C (p.Arg778=)
c.1915A>C (p.Arg639=)
c.2617A>C (p.Arg873=)
c.2207A>C
c.2193A>C
c.2294A>C
c.2219A>C
c.*2537A>C (n.*2537A>C)
c.2230A>C (p.Arg744=)
19g.40396020T=CA2335961417PRXc.2332A= (p.Arg778=)
c.1915A= (p.Arg639=)
c.2617A= (p.Arg873=)
c.2207A=
c.2193A=
c.2294A=
c.2219A=
c.*2537A= (n.*2537A=)
c.2230A= (p.Arg744=)
19g.40396021G>ACA507679412PRXc.2331C>T (p.Pro777=)
c.1914C>T (p.Pro638=)
c.2616C>T (p.Pro872=)
c.2206C>T
c.2192C>T
c.2293C>T
c.2218C>T
c.*2536C>T (n.*2536C>T)
c.2229C>T (p.Pro743=)
ClinVar gnomAD v4
19g.40396021G>CCA507679413PRXc.2331C>G (p.Pro777=)
c.1914C>G (p.Pro638=)
c.2616C>G (p.Pro872=)
c.2206C>G
c.2192C>G
c.2293C>G
c.2218C>G
c.*2536C>G (n.*2536C>G)
c.2229C>G (p.Pro743=)
19g.40396021G>TCA507679414PRXc.2331C>A (p.Pro777=)
c.1914C>A (p.Pro638=)
c.2616C>A (p.Pro872=)
c.2206C>A
c.2192C>A
c.2293C>A
c.2218C>A
c.*2536C>A (n.*2536C>A)
c.2229C>A (p.Pro743=)
19g.40396022G>ACA405896519PRXc.2330C>T (p.Pro777Leu)
c.1913C>T (p.Pro638Leu)
c.2615C>T (p.Pro872Leu)
c.2205C>T
c.2191C>T
c.2292C>T
c.2217C>T
c.*2535C>T (n.*2535C>T)
c.2228C>T (p.Pro743Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.40396022G>CCA405896520PRXc.2330C>G (p.Pro777Arg)
c.1913C>G (p.Pro638Arg)
c.2615C>G (p.Pro872Arg)
c.2205C>G
c.2191C>G
c.2292C>G
c.2217C>G
c.*2535C>G (n.*2535C>G)
c.2228C>G (p.Pro743Arg)
ClinVar dbSNP
19g.40396022G=CA2335961418PRXc.2330C= (p.Pro777=)
c.1913C= (p.Pro638=)
c.2615C= (p.Pro872=)
c.2205C=
c.2191C=
c.2292C=
c.2217C=
c.*2535C= (n.*2535C=)
c.2228C= (p.Pro743=)
19g.40396022G>TCA405896521PRXc.2330C>A (p.Pro777His)
c.1913C>A (p.Pro638His)
c.2615C>A (p.Pro872His)
c.2205C>A
c.2191C>A
c.2292C>A
c.2217C>A
c.*2535C>A (n.*2535C>A)
c.2228C>A (p.Pro743His)
gnomAD v4
19g.40396023G>ACA405896522PRXc.2329C>T (p.Pro777Ser)
c.1912C>T (p.Pro638Ser)
c.2614C>T (p.Pro872Ser)
c.2204C>T
c.2190C>T
c.2291C>T
c.2216C>T
c.*2534C>T (n.*2534C>T)
c.2227C>T (p.Pro743Ser)
19g.40396023G>CCA405896523PRXc.2329C>G (p.Pro777Ala)
c.1912C>G (p.Pro638Ala)
c.2614C>G (p.Pro872Ala)
c.2204C>G
c.2190C>G
c.2291C>G
c.2216C>G
c.*2534C>G (n.*2534C>G)
c.2227C>G (p.Pro743Ala)
19g.40396023G>TCA405896524PRXc.2329C>A (p.Pro777Thr)
c.1912C>A (p.Pro638Thr)
c.2614C>A (p.Pro872Thr)
c.2204C>A
c.2190C>A
c.2291C>A
c.2216C>A
c.*2534C>A (n.*2534C>A)
c.2227C>A (p.Pro743Thr)
19g.40396024C>ACA507679417PRXc.2328G>T (p.Leu776=)
c.1911G>T (p.Leu637=)
c.2613G>T (p.Leu871=)
c.2203G>T
c.2189G>T
c.2290G>T
c.2215G>T
c.*2533G>T (n.*2533G>T)
c.2226G>T (p.Leu742=)
19g.40396024C>GCA507679419PRXc.2328G>C (p.Leu776=)
c.1911G>C (p.Leu637=)
c.2613G>C (p.Leu871=)
c.2203G>C
c.2189G>C
c.2290G>C
c.2215G>C
c.*2533G>C (n.*2533G>C)
c.2226G>C (p.Leu742=)
19g.40396024C>TCA507679420PRXc.2328G>A (p.Leu776=)
c.1911G>A (p.Leu637=)
c.2613G>A (p.Leu871=)
c.2203G>A
c.2189G>A
c.2290G>A
c.2215G>A
c.*2533G>A (n.*2533G>A)
c.2226G>A (p.Leu742=)
19g.40396025A>CCA405896525PRXc.2327T>G (p.Leu776Arg)
c.1910T>G (p.Leu637Arg)
c.2612T>G (p.Leu871Arg)
c.2202T>G
c.2188T>G
c.2289T>G
c.2214T>G
c.*2532T>G (n.*2532T>G)
c.2225T>G (p.Leu742Arg)
19g.40396025A>GCA405896526PRXc.2327T>C (p.Leu776Pro)
c.1910T>C (p.Leu637Pro)
c.2612T>C (p.Leu871Pro)
c.2202T>C
c.2188T>C
c.2289T>C
c.2214T>C
c.*2532T>C (n.*2532T>C)
c.2225T>C (p.Leu742Pro)
19g.40396025A>TCA405896527PRXc.2327T>A (p.Leu776Gln)
c.1910T>A (p.Leu637Gln)
c.2612T>A (p.Leu871Gln)
c.2202T>A
c.2188T>A
c.2289T>A
c.2214T>A
c.*2532T>A (n.*2532T>A)
c.2225T>A (p.Leu742Gln)
19g.40396026G>ACA507679421PRXc.2326C>T (p.Leu776=)
c.1909C>T (p.Leu637=)
c.2611C>T (p.Leu871=)
c.2201C>T
c.2187C>T
c.2288C>T
c.2213C>T
c.*2531C>T (n.*2531C>T)
c.2224C>T (p.Leu742=)
dbSNP gnomAD v2 gnomAD v4
19g.40396026G>CCA405896529PRXc.2326C>G (p.Leu776Val)
c.1909C>G (p.Leu637Val)
c.2611C>G (p.Leu871Val)
c.2201C>G
c.2187C>G
c.2288C>G
c.2213C>G
c.*2531C>G (n.*2531C>G)
c.2224C>G (p.Leu742Val)
gnomAD v4
19g.40396026G=CA2335961419PRXc.2326C= (p.Leu776=)
c.1909C= (p.Leu637=)
c.2611C= (p.Leu871=)
c.2201C=
c.2187C=
c.2288C=
c.2213C=
c.*2531C= (n.*2531C=)
c.2224C= (p.Leu742=)
19g.40396026G>TCA405896528PRXc.2326C>A (p.Leu776Met)
c.1909C>A (p.Leu637Met)
c.2611C>A (p.Leu871Met)
c.2201C>A
c.2187C>A
c.2288C>A
c.2213C>A
c.*2531C>A (n.*2531C>A)
c.2224C>A (p.Leu742Met)
dbSNP
19g.40396027C>ACA405896530PRXc.2325G>T (p.Lys775Asn)
c.1908G>T (p.Lys636Asn)
c.2610G>T (p.Lys870Asn)
c.2200G>T
c.2186G>T
c.2287G>T
c.2212G>T
c.*2530G>T (n.*2530G>T)
c.2223G>T (p.Lys741Asn)
19g.40396027C>GCA405896531PRXc.2325G>C (p.Lys775Asn)
c.1908G>C (p.Lys636Asn)
c.2610G>C (p.Lys870Asn)
c.2200G>C
c.2186G>C
c.2287G>C
c.2212G>C
c.*2530G>C (n.*2530G>C)
c.2223G>C (p.Lys741Asn)
19g.40396027C>TCA507679423PRXc.2325G>A (p.Lys775=)
c.1908G>A (p.Lys636=)
c.2610G>A (p.Lys870=)
c.2200G>A
c.2186G>A
c.2287G>A
c.2212G>A
c.*2530G>A (n.*2530G>A)
c.2223G>A (p.Lys741=)
19g.40396028T>ACA405896532PRXc.2324A>T (p.Lys775Met)
c.1907A>T (p.Lys636Met)
c.2609A>T (p.Lys870Met)
c.2199A>T
c.2185A>T
c.2286A>T
c.2211A>T
c.*2529A>T (n.*2529A>T)
c.2222A>T (p.Lys741Met)
19g.40396028T>CCA405896533PRXc.2324A>G (p.Lys775Arg)
c.1907A>G (p.Lys636Arg)
c.2609A>G (p.Lys870Arg)
c.2199A>G
c.2185A>G
c.2286A>G
c.2211A>G
c.*2529A>G (n.*2529A>G)
c.2222A>G (p.Lys741Arg)
gnomAD v4
19g.40396028T>GCA405896534PRXc.2324A>C (p.Lys775Thr)
c.1907A>C (p.Lys636Thr)
c.2609A>C (p.Lys870Thr)
c.2199A>C
c.2185A>C
c.2286A>C
c.2211A>C
c.*2529A>C (n.*2529A>C)
c.2222A>C (p.Lys741Thr)
19g.40396029T>ACA405896535PRXc.2323A>T (p.Lys775Ter)
c.1906A>T (p.Lys636Ter)
c.2608A>T (p.Lys870Ter)
c.2198A>T
c.2184A>T
c.2285A>T
c.2210A>T
c.*2528A>T (n.*2528A>T)
c.2221A>T (p.Lys741Ter)
19g.40396029T>CCA405896536PRXc.2323A>G (p.Lys775Glu)
c.1906A>G (p.Lys636Glu)
c.2608A>G (p.Lys870Glu)
c.2198A>G
c.2184A>G
c.2285A>G
c.2210A>G
c.*2528A>G (n.*2528A>G)
c.2221A>G (p.Lys741Glu)
19g.40396029T>GCA405896537PRXc.2323A>C (p.Lys775Gln)
c.1906A>C (p.Lys636Gln)
c.2608A>C (p.Lys870Gln)
c.2198A>C
c.2184A>C
c.2285A>C
c.2210A>C
c.*2528A>C (n.*2528A>C)
c.2221A>C (p.Lys741Gln)
19g.40396030C>ACA507679429PRXc.2322G>T (p.Val774=)
c.1905G>T (p.Val635=)
c.2607G>T (p.Val869=)
c.2197G>T
c.2183G>T
c.2284G>T
c.2209G>T
c.*2527G>T (n.*2527G>T)
c.2220G>T (p.Val740=)
19g.40396030C=CA2335961420PRXc.2322G= (p.Val774=)
c.1905G= (p.Val635=)
c.2607G= (p.Val869=)
c.2197G=
c.2183G=
c.2284G=
c.2209G=
c.*2527G= (n.*2527G=)
c.2220G= (p.Val740=)
19g.40396030C>GCA507679428PRXc.2322G>C (p.Val774=)
c.1905G>C (p.Val635=)
c.2607G>C (p.Val869=)
c.2197G>C
c.2183G>C
c.2284G>C
c.2209G>C
c.*2527G>C (n.*2527G>C)
c.2220G>C (p.Val740=)
19g.40396030C>TCA507679427PRXc.2322G>A (p.Val774=)
c.1905G>A (p.Val635=)
c.2607G>A (p.Val869=)
c.2197G>A
c.2183G>A
c.2284G>A
c.2209G>A
c.*2527G>A (n.*2527G>A)
c.2220G>A (p.Val740=)

Number of alleles fetched