Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.59911783G>ACA484003305DIAPH3c.2319C>T (p.Phe773=)
c.2286C>T (p.Phe762=)
c.2109C>T (p.Phe703=)
c.2181C>T (p.Phe727=)
c.1530C>T (p.Phe510=)
n.2481C>T
n.2503C>T
13g.59911783G>CCA388330878DIAPH3c.2319C>G (p.Phe773Leu)
c.2286C>G (p.Phe762Leu)
c.2109C>G (p.Phe703Leu)
c.2181C>G (p.Phe727Leu)
c.1530C>G (p.Phe510Leu)
n.2481C>G
n.2503C>G
 dbSNP gnomAD v4
13g.59911783G=CA2095278679DIAPH3c.2319C= (p.Phe773=)
c.2286C= (p.Phe762=)
c.2109C= (p.Phe703=)
c.2181C= (p.Phe727=)
c.1530C= (p.Phe510=)
n.2481C=
n.2503C=
13g.59911783G>TCA388330879DIAPH3c.2319C>A (p.Phe773Leu)
c.2286C>A (p.Phe762Leu)
c.2109C>A (p.Phe703Leu)
c.2181C>A (p.Phe727Leu)
c.1530C>A (p.Phe510Leu)
n.2481C>A
n.2503C>A
13g.59911784A>CCA388330880DIAPH3c.2318T>G (p.Phe773Cys)
c.2285T>G (p.Phe762Cys)
c.2108T>G (p.Phe703Cys)
c.2180T>G (p.Phe727Cys)
c.1529T>G (p.Phe510Cys)
n.2480T>G
n.2502T>G
13g.59911784A>GCA388330881DIAPH3c.2318T>C (p.Phe773Ser)
c.2285T>C (p.Phe762Ser)
c.2108T>C (p.Phe703Ser)
c.2180T>C (p.Phe727Ser)
c.1529T>C (p.Phe510Ser)
n.2480T>C
n.2502T>C
13g.59911784A>TCA388330882DIAPH3c.2318T>A (p.Phe773Tyr)
c.2285T>A (p.Phe762Tyr)
c.2108T>A (p.Phe703Tyr)
c.2180T>A (p.Phe727Tyr)
c.1529T>A (p.Phe510Tyr)
n.2480T>A
n.2502T>A
13g.59911785A=CA2095278690DIAPH3c.2317T= (p.Phe773=)
c.2284T= (p.Phe762=)
c.2107T= (p.Phe703=)
c.2179T= (p.Phe727=)
c.1528T= (p.Phe510=)
n.2479T=
n.2501T=
13g.59911785A>CCA388330884DIAPH3c.2317T>G (p.Phe773Val)
c.2284T>G (p.Phe762Val)
c.2107T>G (p.Phe703Val)
c.2179T>G (p.Phe727Val)
c.1528T>G (p.Phe510Val)
n.2479T>G
n.2501T>G
13g.59911785A>GCA6996413DIAPH3c.2317T>C (p.Phe773Leu)
c.2284T>C (p.Phe762Leu)
c.2107T>C (p.Phe703Leu)
c.2179T>C (p.Phe727Leu)
c.1528T>C (p.Phe510Leu)
n.2479T>C
n.2501T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911785A>TCA388330883DIAPH3c.2317T>A (p.Phe773Ile)
c.2284T>A (p.Phe762Ile)
c.2107T>A (p.Phe703Ile)
c.2179T>A (p.Phe727Ile)
c.1528T>A (p.Phe510Ile)
n.2479T>A
n.2501T>A
13g.59911786C>ACA388330885DIAPH3c.2316G>T (p.Gln772His)
c.2283G>T (p.Gln761His)
c.2106G>T (p.Gln702His)
c.2178G>T (p.Gln726His)
c.1527G>T (p.Gln509His)
n.2478G>T
n.2500G>T
13g.59911786C=CA2095278692DIAPH3c.2316G= (p.Gln772=)
c.2283G= (p.Gln761=)
c.2106G= (p.Gln702=)
c.2178G= (p.Gln726=)
c.1527G= (p.Gln509=)
n.2478G=
n.2500G=
13g.59911786C>GCA388330886DIAPH3c.2316G>C (p.Gln772His)
c.2283G>C (p.Gln761His)
c.2106G>C (p.Gln702His)
c.2178G>C (p.Gln726His)
c.1527G>C (p.Gln509His)
n.2478G>C
n.2500G>C
 dbSNP
13g.59911786C>TCA484003306DIAPH3c.2316G>A (p.Gln772=)
c.2283G>A (p.Gln761=)
c.2106G>A (p.Gln702=)
c.2178G>A (p.Gln726=)
c.1527G>A (p.Gln509=)
n.2478G>A
n.2500G>A
13g.59911786_59911787insCTGCA2623205681DIAPH3c.2315_2316insCAG (p.Gln772delinsHisArg)
c.2282_2283insCAG (p.Gln761delinsHisArg)
c.2105_2106insCAG (p.Gln702delinsHisArg)
c.2177_2178insCAG (p.Gln726delinsHisArg)
c.1526_1527insCAG (p.Gln509delinsHisArg)
n.2477_2478insCAG
n.2499_2500insCAG
 gnomAD v4
13g.59911787T>ACA388330888DIAPH3c.2315A>T (p.Gln772Leu)
c.2282A>T (p.Gln761Leu)
c.2105A>T (p.Gln702Leu)
c.2177A>T (p.Gln726Leu)
c.1526A>T (p.Gln509Leu)
n.2477A>T
n.2499A>T
13g.59911787T>CCA388330890DIAPH3c.2315A>G (p.Gln772Arg)
c.2282A>G (p.Gln761Arg)
c.2105A>G (p.Gln702Arg)
c.2177A>G (p.Gln726Arg)
c.1526A>G (p.Gln509Arg)
n.2477A>G
n.2499A>G
 dbSNP gnomAD v4
13g.59911787T>GCA388330892DIAPH3c.2315A>C (p.Gln772Pro)
c.2282A>C (p.Gln761Pro)
c.2105A>C (p.Gln702Pro)
c.2177A>C (p.Gln726Pro)
c.1526A>C (p.Gln509Pro)
n.2477A>C
n.2499A>C
 dbSNP
13g.59911787T=CA2095278694DIAPH3c.2315A= (p.Gln772=)
c.2282A= (p.Gln761=)
c.2105A= (p.Gln702=)
c.2177A= (p.Gln726=)
c.1526A= (p.Gln509=)
n.2477A=
n.2499A=
13g.59911788G>ACA388330895DIAPH3c.2314C>T (p.Gln772Ter)
c.2281C>T (p.Gln761Ter)
c.2104C>T (p.Gln702Ter)
c.2176C>T (p.Gln726Ter)
c.1525C>T (p.Gln509Ter)
n.2476C>T
n.2498C>T
13g.59911788G>CCA388330897DIAPH3c.2314C>G (p.Gln772Glu)
c.2281C>G (p.Gln761Glu)
c.2104C>G (p.Gln702Glu)
c.2176C>G (p.Gln726Glu)
c.1525C>G (p.Gln509Glu)
n.2476C>G
n.2498C>G
13g.59911788G>TCA388330899DIAPH3c.2314C>A (p.Gln772Lys)
c.2281C>A (p.Gln761Lys)
c.2104C>A (p.Gln702Lys)
c.2176C>A (p.Gln726Lys)
c.1525C>A (p.Gln509Lys)
n.2476C>A
n.2498C>A
13g.59911789A>CCA484003307DIAPH3c.2313T>G (p.Ser771=)
c.2280T>G (p.Ser760=)
c.2103T>G (p.Ser701=)
c.2175T>G (p.Ser725=)
c.1524T>G (p.Ser508=)
n.2475T>G
n.2497T>G
13g.59911789A>GCA484003308DIAPH3c.2313T>C (p.Ser771=)
c.2280T>C (p.Ser760=)
c.2103T>C (p.Ser701=)
c.2175T>C (p.Ser725=)
c.1524T>C (p.Ser508=)
n.2475T>C
n.2497T>C
13g.59911789A>TCA484003309DIAPH3c.2313T>A (p.Ser771=)
c.2280T>A (p.Ser760=)
c.2103T>A (p.Ser701=)
c.2175T>A (p.Ser725=)
c.1524T>A (p.Ser508=)
n.2475T>A
n.2497T>A
13g.59911790G>ACA388330901DIAPH3c.2312C>T (p.Ser771Phe)
c.2279C>T (p.Ser760Phe)
c.2102C>T (p.Ser701Phe)
c.2174C>T (p.Ser725Phe)
c.1523C>T (p.Ser508Phe)
n.2474C>T
n.2496C>T
 COSMIC
13g.59911790G>CCA388330903DIAPH3c.2312C>G (p.Ser771Cys)
c.2279C>G (p.Ser760Cys)
c.2102C>G (p.Ser701Cys)
c.2174C>G (p.Ser725Cys)
c.1523C>G (p.Ser508Cys)
n.2474C>G
n.2496C>G
13g.59911790G>TCA388330905DIAPH3c.2312C>A (p.Ser771Tyr)
c.2279C>A (p.Ser760Tyr)
c.2102C>A (p.Ser701Tyr)
c.2174C>A (p.Ser725Tyr)
c.1523C>A (p.Ser508Tyr)
n.2474C>A
n.2496C>A
13g.59911791A>CCA388330911DIAPH3c.2311T>G (p.Ser771Ala)
c.2278T>G (p.Ser760Ala)
c.2101T>G (p.Ser701Ala)
c.2173T>G (p.Ser725Ala)
c.1522T>G (p.Ser508Ala)
n.2473T>G
n.2495T>G
13g.59911791A>GCA388330909DIAPH3c.2311T>C (p.Ser771Pro)
c.2278T>C (p.Ser760Pro)
c.2101T>C (p.Ser701Pro)
c.2173T>C (p.Ser725Pro)
c.1522T>C (p.Ser508Pro)
n.2473T>C
n.2495T>C
13g.59911791A>TCA388330907DIAPH3c.2311T>A (p.Ser771Thr)
c.2278T>A (p.Ser760Thr)
c.2101T>A (p.Ser701Thr)
c.2173T>A (p.Ser725Thr)
c.1522T>A (p.Ser508Thr)
n.2473T>A
n.2495T>A
13g.59911792C>ACA388330913DIAPH3c.2310G>T (p.Leu770Phe)
c.2277G>T (p.Leu759Phe)
c.2100G>T (p.Leu700Phe)
c.2172G>T (p.Leu724Phe)
c.1521G>T (p.Leu507Phe)
n.2472G>T
n.2494G>T
13g.59911792C=CA2095278697DIAPH3c.2310G= (p.Leu770=)
c.2277G= (p.Leu759=)
c.2100G= (p.Leu700=)
c.2172G= (p.Leu724=)
c.1521G= (p.Leu507=)
n.2472G=
n.2494G=
13g.59911792C>GCA388330915DIAPH3c.2310G>C (p.Leu770Phe)
c.2277G>C (p.Leu759Phe)
c.2100G>C (p.Leu700Phe)
c.2172G>C (p.Leu724Phe)
c.1521G>C (p.Leu507Phe)
n.2472G>C
n.2494G>C
13g.59911792C>TCA484003310DIAPH3c.2310G>A (p.Leu770=)
c.2277G>A (p.Leu759=)
c.2100G>A (p.Leu700=)
c.2172G>A (p.Leu724=)
c.1521G>A (p.Leu507=)
n.2472G>A
n.2494G>A
 dbSNP gnomAD v3 gnomAD v4
13g.59911793A>CCA388330917DIAPH3c.2309T>G (p.Leu770Trp)
c.2276T>G (p.Leu759Trp)
c.2099T>G (p.Leu700Trp)
c.2171T>G (p.Leu724Trp)
c.1520T>G (p.Leu507Trp)
n.2471T>G
n.2493T>G
13g.59911793A>GCA388330919DIAPH3c.2309T>C (p.Leu770Ser)
c.2276T>C (p.Leu759Ser)
c.2099T>C (p.Leu700Ser)
c.2171T>C (p.Leu724Ser)
c.1520T>C (p.Leu507Ser)
n.2471T>C
n.2493T>C
13g.59911793A>TCA388330921DIAPH3c.2309T>A (p.Leu770Ter)
c.2276T>A (p.Leu759Ter)
c.2099T>A (p.Leu700Ter)
c.2171T>A (p.Leu724Ter)
c.1520T>A (p.Leu507Ter)
n.2471T>A
n.2493T>A
 gnomAD v4
13g.59911794A>CCA388330923DIAPH3c.2308T>G (p.Leu770Val)
c.2275T>G (p.Leu759Val)
c.2098T>G (p.Leu700Val)
c.2170T>G (p.Leu724Val)
c.1519T>G (p.Leu507Val)
n.2470T>G
n.2492T>G
13g.59911794A>GCA484003311DIAPH3c.2308T>C (p.Leu770=)
c.2275T>C (p.Leu759=)
c.2098T>C (p.Leu700=)
c.2170T>C (p.Leu724=)
c.1519T>C (p.Leu507=)
n.2470T>C
n.2492T>C
13g.59911794A>TCA388330925DIAPH3c.2308T>A (p.Leu770Met)
c.2275T>A (p.Leu759Met)
c.2098T>A (p.Leu700Met)
c.2170T>A (p.Leu724Met)
c.1519T>A (p.Leu507Met)
n.2470T>A
n.2492T>A
13g.59911795T>ACA484003312DIAPH3c.2307A>T (p.Ser769=)
c.2274A>T (p.Ser758=)
c.2097A>T (p.Ser699=)
c.2169A>T (p.Ser723=)
c.1518A>T (p.Ser506=)
n.2469A>T
n.2491A>T
13g.59911795T>CCA484003313DIAPH3c.2307A>G (p.Ser769=)
c.2274A>G (p.Ser758=)
c.2097A>G (p.Ser699=)
c.2169A>G (p.Ser723=)
c.1518A>G (p.Ser506=)
n.2469A>G
n.2491A>G
 dbSNP
13g.59911795T>GCA484003314DIAPH3c.2307A>C (p.Ser769=)
c.2274A>C (p.Ser758=)
c.2097A>C (p.Ser699=)
c.2169A>C (p.Ser723=)
c.1518A>C (p.Ser506=)
n.2469A>C
n.2491A>C
13g.59911795T=CA2095278699DIAPH3c.2307A= (p.Ser769=)
c.2274A= (p.Ser758=)
c.2097A= (p.Ser699=)
c.2169A= (p.Ser723=)
c.1518A= (p.Ser506=)
n.2469A=
n.2491A=
13g.59911796G>ACA388330927DIAPH3c.2306C>T (p.Ser769Leu)
c.2273C>T (p.Ser758Leu)
c.2096C>T (p.Ser699Leu)
c.2168C>T (p.Ser723Leu)
c.1517C>T (p.Ser506Leu)
n.2468C>T
n.2490C>T
13g.59911796G>CCA388330929DIAPH3c.2306C>G (p.Ser769Ter)
c.2273C>G (p.Ser758Ter)
c.2096C>G (p.Ser699Ter)
c.2168C>G (p.Ser723Ter)
c.1517C>G (p.Ser506Ter)
n.2468C>G
n.2490C>G
13g.59911796G=CA2095278702DIAPH3c.2306C= (p.Ser769=)
c.2273C= (p.Ser758=)
c.2096C= (p.Ser699=)
c.2168C= (p.Ser723=)
c.1517C= (p.Ser506=)
n.2468C=
n.2490C=
13g.59911796G>TCA388330931DIAPH3c.2306C>A (p.Ser769Ter)
c.2273C>A (p.Ser758Ter)
c.2096C>A (p.Ser699Ter)
c.2168C>A (p.Ser723Ter)
c.1517C>A (p.Ser506Ter)
n.2468C>A
n.2490C>A
 dbSNP gnomAD v2 gnomAD v4
13g.59911797A>CCA388330933DIAPH3c.2305T>G (p.Ser769Ala)
c.2272T>G (p.Ser758Ala)
c.2095T>G (p.Ser699Ala)
c.2167T>G (p.Ser723Ala)
c.1516T>G (p.Ser506Ala)
n.2467T>G
n.2489T>G
13g.59911797A>GCA388330934DIAPH3c.2305T>C (p.Ser769Pro)
c.2272T>C (p.Ser758Pro)
c.2095T>C (p.Ser699Pro)
c.2167T>C (p.Ser723Pro)
c.1516T>C (p.Ser506Pro)
n.2467T>C
n.2489T>C
13g.59911797A>TCA388330937DIAPH3c.2305T>A (p.Ser769Thr)
c.2272T>A (p.Ser758Thr)
c.2095T>A (p.Ser699Thr)
c.2167T>A (p.Ser723Thr)
c.1516T>A (p.Ser506Thr)
n.2467T>A
n.2489T>A
13g.59911798A>CCA388330939DIAPH3c.2304T>G (p.Asn768Lys)
c.2271T>G (p.Asn757Lys)
c.2094T>G (p.Asn698Lys)
c.2166T>G (p.Asn722Lys)
c.1515T>G (p.Asn505Lys)
n.2466T>G
n.2488T>G
13g.59911798A>GCA484003315DIAPH3c.2304T>C (p.Asn768=)
c.2271T>C (p.Asn757=)
c.2094T>C (p.Asn698=)
c.2166T>C (p.Asn722=)
c.1515T>C (p.Asn505=)
n.2466T>C
n.2488T>C
13g.59911798A>TCA388330940DIAPH3c.2304T>A (p.Asn768Lys)
c.2271T>A (p.Asn757Lys)
c.2094T>A (p.Asn698Lys)
c.2166T>A (p.Asn722Lys)
c.1515T>A (p.Asn505Lys)
n.2466T>A
n.2488T>A
13g.59911799T>ACA6996414DIAPH3c.2303A>T (p.Asn768Ile)
c.2270A>T (p.Asn757Ile)
c.2093A>T (p.Asn698Ile)
c.2165A>T (p.Asn722Ile)
c.1514A>T (p.Asn505Ile)
n.2465A>T
n.2487A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911799T>CCA388330944DIAPH3c.2303A>G (p.Asn768Ser)
c.2270A>G (p.Asn757Ser)
c.2093A>G (p.Asn698Ser)
c.2165A>G (p.Asn722Ser)
c.1514A>G (p.Asn505Ser)
n.2465A>G
n.2487A>G
13g.59911799T>GCA388330946DIAPH3c.2303A>C (p.Asn768Thr)
c.2270A>C (p.Asn757Thr)
c.2093A>C (p.Asn698Thr)
c.2165A>C (p.Asn722Thr)
c.1514A>C (p.Asn505Thr)
n.2465A>C
n.2487A>C
13g.59911799T=CA2095278705DIAPH3c.2303A= (p.Asn768=)
c.2270A= (p.Asn757=)
c.2093A= (p.Asn698=)
c.2165A= (p.Asn722=)
c.1514A= (p.Asn505=)
n.2465A=
n.2487A=
13g.59911800T>ACA388330948DIAPH3c.2302A>T (p.Asn768Tyr)
c.2269A>T (p.Asn757Tyr)
c.2092A>T (p.Asn698Tyr)
c.2164A>T (p.Asn722Tyr)
c.1513A>T (p.Asn505Tyr)
n.2464A>T
n.2486A>T
13g.59911800T>CCA388330950DIAPH3c.2302A>G (p.Asn768Asp)
c.2269A>G (p.Asn757Asp)
c.2092A>G (p.Asn698Asp)
c.2164A>G (p.Asn722Asp)
c.1513A>G (p.Asn505Asp)
n.2464A>G
n.2486A>G
13g.59911800T>GCA388330951DIAPH3c.2302A>C (p.Asn768His)
c.2269A>C (p.Asn757His)
c.2092A>C (p.Asn698His)
c.2164A>C (p.Asn722His)
c.1513A>C (p.Asn505His)
n.2464A>C
n.2486A>C
 gnomAD v4
13g.59911801T>ACA388330953DIAPH3c.2301A>T (p.Leu767Phe)
c.2268A>T (p.Leu756Phe)
c.2091A>T (p.Leu697Phe)
c.2163A>T (p.Leu721Phe)
c.1512A>T (p.Leu504Phe)
n.2463A>T
n.2485A>T
13g.59911801T>CCA484003316DIAPH3c.2301A>G (p.Leu767=)
c.2268A>G (p.Leu756=)
c.2091A>G (p.Leu697=)
c.2163A>G (p.Leu721=)
c.1512A>G (p.Leu504=)
n.2463A>G
n.2485A>G
 gnomAD v4
13g.59911801T>GCA388330955DIAPH3c.2301A>C (p.Leu767Phe)
c.2268A>C (p.Leu756Phe)
c.2091A>C (p.Leu697Phe)
c.2163A>C (p.Leu721Phe)
c.1512A>C (p.Leu504Phe)
n.2463A>C
n.2485A>C
13g.59911802A>CCA388330957DIAPH3c.2300T>G (p.Leu767Ter)
c.2267T>G (p.Leu756Ter)
c.2090T>G (p.Leu697Ter)
c.2162T>G (p.Leu721Ter)
c.1511T>G (p.Leu504Ter)
n.2462T>G
n.2484T>G
13g.59911802A>GCA388330959DIAPH3c.2300T>C (p.Leu767Ser)
c.2267T>C (p.Leu756Ser)
c.2090T>C (p.Leu697Ser)
c.2162T>C (p.Leu721Ser)
c.1511T>C (p.Leu504Ser)
n.2462T>C
n.2484T>C
13g.59911802A>TCA388330961DIAPH3c.2300T>A (p.Leu767Ter)
c.2267T>A (p.Leu756Ter)
c.2090T>A (p.Leu697Ter)
c.2162T>A (p.Leu721Ter)
c.1511T>A (p.Leu504Ter)
n.2462T>A
n.2484T>A
13g.59911802_59911815delinsAATTGCTCTTGATCCA2095278708DIAPH3c.2287_2300delinsGATCAAGAGCAATT (p.Asp763=)
c.2254_2267delinsGATCAAGAGCAATT (p.Asp752=)
c.2077_2090delinsGATCAAGAGCAATT (p.Asp693=)
c.2149_2162delinsGATCAAGAGCAATT (p.Asp717=)
c.1498_1511delinsGATCAAGAGCAATT (p.Asp500=)
n.2449_2462delinsGATCAAGAGCAATT
n.2471_2484delinsGATCAAGAGCAATT
13g.59911803A>CCA388330965DIAPH3c.2299T>G (p.Leu767Val)
c.2266T>G (p.Leu756Val)
c.2089T>G (p.Leu697Val)
c.2161T>G (p.Leu721Val)
c.1510T>G (p.Leu504Val)
n.2461T>G
n.2483T>G
13g.59911803A>GCA484003317DIAPH3c.2299T>C (p.Leu767=)
c.2266T>C (p.Leu756=)
c.2089T>C (p.Leu697=)
c.2161T>C (p.Leu721=)
c.1510T>C (p.Leu504=)
n.2461T>C
n.2483T>C
13g.59911803A>TCA388330967DIAPH3c.2299T>A (p.Leu767Ile)
c.2266T>A (p.Leu756Ile)
c.2089T>A (p.Leu697Ile)
c.2161T>A (p.Leu721Ile)
c.1510T>A (p.Leu504Ile)
n.2461T>A
n.2483T>A
13g.59911803_59911804delinsATCA2095278712DIAPH3c.2298_2299delinsAT (p.Gln766=)
c.2265_2266delinsAT (p.Gln755=)
c.2088_2089delinsAT (p.Gln696=)
c.2160_2161delinsAT (p.Gln720=)
c.1509_1510delinsAT (p.Gln503=)
n.2460_2461delinsAT
n.2482_2483delinsAT
13g.59911804_59911816delCA250956567DIAPH3c.2287_2299del (p.Asp763Ter)
c.2254_2266del (p.Asp752Ter)
c.2077_2089del (p.Asp693Ter)
c.2149_2161del (p.Asp717Ter)
c.1498_1510del (p.Asp500Ter)
n.2449_2461del
n.2471_2483del
 dbSNP
13g.59911804T>ACA388330969DIAPH3c.2298A>T (p.Gln766His)
c.2265A>T (p.Gln755His)
c.2088A>T (p.Gln696His)
c.2160A>T (p.Gln720His)
c.1509A>T (p.Gln503His)
n.2460A>T
n.2482A>T
13g.59911804T>CCA6996415DIAPH3c.2298A>G (p.Gln766=)
c.2265A>G (p.Gln755=)
c.2088A>G (p.Gln696=)
c.2160A>G (p.Gln720=)
c.1509A>G (p.Gln503=)
n.2460A>G
n.2482A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911804T>GCA388330971DIAPH3c.2298A>C (p.Gln766His)
c.2265A>C (p.Gln755His)
c.2088A>C (p.Gln696His)
c.2160A>C (p.Gln720His)
c.1509A>C (p.Gln503His)
n.2460A>C
n.2482A>C
13g.59911804T=CA2095278716DIAPH3c.2298A= (p.Gln766=)
c.2265A= (p.Gln755=)
c.2088A= (p.Gln696=)
c.2160A= (p.Gln720=)
c.1509A= (p.Gln503=)
n.2460A=
n.2482A=
13g.59911805delCA610296864DIAPH3c.2298del (p.Gln766HisfsTer2)
c.2265del (p.Gln755HisfsTer2)
c.2088del (p.Gln696HisfsTer2)
c.2160del (p.Gln720HisfsTer2)
c.1509del (p.Gln503HisfsTer2)
n.2460del
n.2482del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.59911805T>ACA388330973DIAPH3c.2297A>T (p.Gln766Leu)
c.2264A>T (p.Gln755Leu)
c.2087A>T (p.Gln696Leu)
c.2159A>T (p.Gln720Leu)
c.1508A>T (p.Gln503Leu)
n.2459A>T
n.2481A>T
13g.59911805T>CCA388330975DIAPH3c.2297A>G (p.Gln766Arg)
c.2264A>G (p.Gln755Arg)
c.2087A>G (p.Gln696Arg)
c.2159A>G (p.Gln720Arg)
c.1508A>G (p.Gln503Arg)
n.2459A>G
n.2481A>G
 gnomAD v4
13g.59911805T>GCA388330976DIAPH3c.2297A>C (p.Gln766Pro)
c.2264A>C (p.Gln755Pro)
c.2087A>C (p.Gln696Pro)
c.2159A>C (p.Gln720Pro)
c.1508A>C (p.Gln503Pro)
n.2459A>C
n.2481A>C
13g.59911806G>ACA388330983DIAPH3c.2296C>T (p.Gln766Ter)
c.2263C>T (p.Gln755Ter)
c.2086C>T (p.Gln696Ter)
c.2158C>T (p.Gln720Ter)
c.1507C>T (p.Gln503Ter)
n.2458C>T
n.2480C>T
13g.59911806G>CCA388330979DIAPH3c.2296C>G (p.Gln766Glu)
c.2263C>G (p.Gln755Glu)
c.2086C>G (p.Gln696Glu)
c.2158C>G (p.Gln720Glu)
c.1507C>G (p.Gln503Glu)
n.2458C>G
n.2480C>G
13g.59911806G>TCA388330981DIAPH3c.2296C>A (p.Gln766Lys)
c.2263C>A (p.Gln755Lys)
c.2086C>A (p.Gln696Lys)
c.2158C>A (p.Gln720Lys)
c.1507C>A (p.Gln503Lys)
n.2458C>A
n.2480C>A
13g.59911807C>ACA388330985DIAPH3c.2295G>T (p.Glu765Asp)
c.2262G>T (p.Glu754Asp)
c.2085G>T (p.Glu695Asp)
c.2157G>T (p.Glu719Asp)
c.1506G>T (p.Glu502Asp)
n.2457G>T
n.2479G>T
13g.59911807C>GCA388330986DIAPH3c.2295G>C (p.Glu765Asp)
c.2262G>C (p.Glu754Asp)
c.2085G>C (p.Glu695Asp)
c.2157G>C (p.Glu719Asp)
c.1506G>C (p.Glu502Asp)
n.2457G>C
n.2479G>C
13g.59911807C>TCA484003318DIAPH3c.2295G>A (p.Glu765=)
c.2262G>A (p.Glu754=)
c.2085G>A (p.Glu695=)
c.2157G>A (p.Glu719=)
c.1506G>A (p.Glu502=)
n.2457G>A
n.2479G>A
13g.59911808T>ACA388330988DIAPH3c.2294A>T (p.Glu765Val)
c.2261A>T (p.Glu754Val)
c.2084A>T (p.Glu695Val)
c.2156A>T (p.Glu719Val)
c.1505A>T (p.Glu502Val)
n.2456A>T
n.2478A>T
 gnomAD v4
13g.59911808T>CCA388330990DIAPH3c.2294A>G (p.Glu765Gly)
c.2261A>G (p.Glu754Gly)
c.2084A>G (p.Glu695Gly)
c.2156A>G (p.Glu719Gly)
c.1505A>G (p.Glu502Gly)
n.2456A>G
n.2478A>G
13g.59911808T>GCA388330991DIAPH3c.2294A>C (p.Glu765Ala)
c.2261A>C (p.Glu754Ala)
c.2084A>C (p.Glu695Ala)
c.2156A>C (p.Glu719Ala)
c.1505A>C (p.Glu502Ala)
n.2456A>C
n.2478A>C
13g.59911809C>ACA388330997DIAPH3c.2293G>T (p.Glu765Ter)
c.2260G>T (p.Glu754Ter)
c.2083G>T (p.Glu695Ter)
c.2155G>T (p.Glu719Ter)
c.1504G>T (p.Glu502Ter)
n.2455G>T
n.2477G>T
13g.59911809C>GCA388330994DIAPH3c.2293G>C (p.Glu765Gln)
c.2260G>C (p.Glu754Gln)
c.2083G>C (p.Glu695Gln)
c.2155G>C (p.Glu719Gln)
c.1504G>C (p.Glu502Gln)
n.2455G>C
n.2477G>C
13g.59911809C>TCA388330996DIAPH3c.2293G>A (p.Glu765Lys)
c.2260G>A (p.Glu754Lys)
c.2083G>A (p.Glu695Lys)
c.2155G>A (p.Glu719Lys)
c.1504G>A (p.Glu502Lys)
n.2455G>A
n.2477G>A
13g.59911810T>ACA388330999DIAPH3c.2292A>T (p.Gln764His)
c.2259A>T (p.Gln753His)
c.2082A>T (p.Gln694His)
c.2154A>T (p.Gln718His)
c.1503A>T (p.Gln501His)
n.2454A>T
n.2476A>T
13g.59911810T>CCA484003319DIAPH3c.2292A>G (p.Gln764=)
c.2259A>G (p.Gln753=)
c.2082A>G (p.Gln694=)
c.2154A>G (p.Gln718=)
c.1503A>G (p.Gln501=)
n.2454A>G
n.2476A>G
13g.59911810T>GCA388331001DIAPH3c.2292A>C (p.Gln764His)
c.2259A>C (p.Gln753His)
c.2082A>C (p.Gln694His)
c.2154A>C (p.Gln718His)
c.1503A>C (p.Gln501His)
n.2454A>C
n.2476A>C
13g.59911811T>ACA388331003DIAPH3c.2291A>T (p.Gln764Leu)
c.2258A>T (p.Gln753Leu)
c.2081A>T (p.Gln694Leu)
c.2153A>T (p.Gln718Leu)
c.1502A>T (p.Gln501Leu)
n.2453A>T
n.2475A>T
13g.59911811T>CCA388331005DIAPH3c.2291A>G (p.Gln764Arg)
c.2258A>G (p.Gln753Arg)
c.2081A>G (p.Gln694Arg)
c.2153A>G (p.Gln718Arg)
c.1502A>G (p.Gln501Arg)
n.2453A>G
n.2475A>G
13g.59911811T>GCA388331007DIAPH3c.2291A>C (p.Gln764Pro)
c.2258A>C (p.Gln753Pro)
c.2081A>C (p.Gln694Pro)
c.2153A>C (p.Gln718Pro)
c.1502A>C (p.Gln501Pro)
n.2453A>C
n.2475A>C
 gnomAD v4
13g.59911812G>ACA388331008DIAPH3c.2290C>T (p.Gln764Ter)
c.2257C>T (p.Gln753Ter)
c.2080C>T (p.Gln694Ter)
c.2152C>T (p.Gln718Ter)
c.1501C>T (p.Gln501Ter)
n.2452C>T
n.2474C>T
13g.59911812G>CCA388331009DIAPH3c.2290C>G (p.Gln764Glu)
c.2257C>G (p.Gln753Glu)
c.2080C>G (p.Gln694Glu)
c.2152C>G (p.Gln718Glu)
c.1501C>G (p.Gln501Glu)
n.2452C>G
n.2474C>G
 dbSNP gnomAD v4
13g.59911812G=CA2095278719DIAPH3c.2290C= (p.Gln764=)
c.2257C= (p.Gln753=)
c.2080C= (p.Gln694=)
c.2152C= (p.Gln718=)
c.1501C= (p.Gln501=)
n.2452C=
n.2474C=
13g.59911812G>TCA388331010DIAPH3c.2290C>A (p.Gln764Lys)
c.2257C>A (p.Gln753Lys)
c.2080C>A (p.Gln694Lys)
c.2152C>A (p.Gln718Lys)
c.1501C>A (p.Gln501Lys)
n.2452C>A
n.2474C>A
13g.59911813A=CA2095278722DIAPH3c.2289T= (p.Asp763=)
c.2256T= (p.Asp752=)
c.2079T= (p.Asp693=)
c.2151T= (p.Asp717=)
c.1500T= (p.Asp500=)
n.2451T=
n.2473T=
13g.59911813A>CCA388331012DIAPH3c.2289T>G (p.Asp763Glu)
c.2256T>G (p.Asp752Glu)
c.2079T>G (p.Asp693Glu)
c.2151T>G (p.Asp717Glu)
c.1500T>G (p.Asp500Glu)
n.2451T>G
n.2473T>G
13g.59911813A>GCA484003320DIAPH3c.2289T>C (p.Asp763=)
c.2256T>C (p.Asp752=)
c.2079T>C (p.Asp693=)
c.2151T>C (p.Asp717=)
c.1500T>C (p.Asp500=)
n.2451T>C
n.2473T>C
13g.59911813A>TCA6996416DIAPH3c.2289T>A (p.Asp763Glu)
c.2256T>A (p.Asp752Glu)
c.2079T>A (p.Asp693Glu)
c.2151T>A (p.Asp717Glu)
c.1500T>A (p.Asp500Glu)
n.2451T>A
n.2473T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911814T>ACA388331016DIAPH3c.2288A>T (p.Asp763Val)
c.2255A>T (p.Asp752Val)
c.2078A>T (p.Asp693Val)
c.2150A>T (p.Asp717Val)
c.1499A>T (p.Asp500Val)
n.2450A>T
n.2472A>T
13g.59911814T>CCA388331017DIAPH3c.2288A>G (p.Asp763Gly)
c.2255A>G (p.Asp752Gly)
c.2078A>G (p.Asp693Gly)
c.2150A>G (p.Asp717Gly)
c.1499A>G (p.Asp500Gly)
n.2450A>G
n.2472A>G
13g.59911814T>GCA388331019DIAPH3c.2288A>C (p.Asp763Ala)
c.2255A>C (p.Asp752Ala)
c.2078A>C (p.Asp693Ala)
c.2150A>C (p.Asp717Ala)
c.1499A>C (p.Asp500Ala)
n.2450A>C
n.2472A>C
13g.59911815C>ACA388331021DIAPH3c.2287G>T (p.Asp763Tyr)
c.2254G>T (p.Asp752Tyr)
c.2077G>T (p.Asp693Tyr)
c.2149G>T (p.Asp717Tyr)
c.1498G>T (p.Asp500Tyr)
n.2449G>T
n.2471G>T
 gnomAD v4
13g.59911815C=CA2095278725DIAPH3c.2287G= (p.Asp763=)
c.2254G= (p.Asp752=)
c.2077G= (p.Asp693=)
c.2149G= (p.Asp717=)
c.1498G= (p.Asp500=)
n.2449G=
n.2471G=
13g.59911815C>GCA388331025DIAPH3c.2287G>C (p.Asp763His)
c.2254G>C (p.Asp752His)
c.2077G>C (p.Asp693His)
c.2149G>C (p.Asp717His)
c.1498G>C (p.Asp500His)
n.2449G>C
n.2471G>C
13g.59911815C>TCA388331023DIAPH3c.2287G>A (p.Asp763Asn)
c.2254G>A (p.Asp752Asn)
c.2077G>A (p.Asp693Asn)
c.2149G>A (p.Asp717Asn)
c.1498G>A (p.Asp500Asn)
n.2449G>A
n.2471G>A
 dbSNP gnomAD v4
13g.59911816A=CA2095278728DIAPH3c.2286T= (p.Pro762=)
c.2253T= (p.Pro751=)
c.2076T= (p.Pro692=)
c.2148T= (p.Pro716=)
c.1497T= (p.Pro499=)
n.2448T=
n.2470T=
13g.59911816A>CCA484003321DIAPH3c.2286T>G (p.Pro762=)
c.2253T>G (p.Pro751=)
c.2076T>G (p.Pro692=)
c.2148T>G (p.Pro716=)
c.1497T>G (p.Pro499=)
n.2448T>G
n.2470T>G
13g.59911816A>GCA484003322DIAPH3c.2286T>C (p.Pro762=)
c.2253T>C (p.Pro751=)
c.2076T>C (p.Pro692=)
c.2148T>C (p.Pro716=)
c.1497T>C (p.Pro499=)
n.2448T>C
n.2470T>C
13g.59911816A>TCA6996417DIAPH3c.2286T>A (p.Pro762=)
c.2253T>A (p.Pro751=)
c.2076T>A (p.Pro692=)
c.2148T>A (p.Pro716=)
c.1497T>A (p.Pro499=)
n.2448T>A
n.2470T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911817G>ACA388331028DIAPH3c.2285C>T (p.Pro762Leu)
c.2252C>T (p.Pro751Leu)
c.2075C>T (p.Pro692Leu)
c.2147C>T (p.Pro716Leu)
c.1496C>T (p.Pro499Leu)
n.2447C>T
n.2469C>T
13g.59911817G>CCA388331030DIAPH3c.2285C>G (p.Pro762Arg)
c.2252C>G (p.Pro751Arg)
c.2075C>G (p.Pro692Arg)
c.2147C>G (p.Pro716Arg)
c.1496C>G (p.Pro499Arg)
n.2447C>G
n.2469C>G
13g.59911817G>TCA388331032DIAPH3c.2285C>A (p.Pro762His)
c.2252C>A (p.Pro751His)
c.2075C>A (p.Pro692His)
c.2147C>A (p.Pro716His)
c.1496C>A (p.Pro499His)
n.2447C>A
n.2469C>A
13g.59911818G>ACA388331034DIAPH3c.2284C>T (p.Pro762Ser)
c.2251C>T (p.Pro751Ser)
c.2074C>T (p.Pro692Ser)
c.2146C>T (p.Pro716Ser)
c.1495C>T (p.Pro499Ser)
n.2446C>T
n.2468C>T
13g.59911818G>CCA388331036DIAPH3c.2284C>G (p.Pro762Ala)
c.2251C>G (p.Pro751Ala)
c.2074C>G (p.Pro692Ala)
c.2146C>G (p.Pro716Ala)
c.1495C>G (p.Pro499Ala)
n.2446C>G
n.2468C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.59911818G=CA2095278730DIAPH3c.2284C= (p.Pro762=)
c.2251C= (p.Pro751=)
c.2074C= (p.Pro692=)
c.2146C= (p.Pro716=)
c.1495C= (p.Pro499=)
n.2446C=
n.2468C=
13g.59911818G>TCA388331038DIAPH3c.2284C>A (p.Pro762Thr)
c.2251C>A (p.Pro751Thr)
c.2074C>A (p.Pro692Thr)
c.2146C>A (p.Pro716Thr)
c.1495C>A (p.Pro499Thr)
n.2446C>A
n.2468C>A
 gnomAD v4
13g.59911819A>CCA484003323DIAPH3c.2283T>G (p.Leu761=)
c.2250T>G (p.Leu750=)
c.2073T>G (p.Leu691=)
c.2145T>G (p.Leu715=)
c.1494T>G (p.Leu498=)
n.2445T>G
n.2467T>G
13g.59911819A>GCA484003324DIAPH3c.2283T>C (p.Leu761=)
c.2250T>C (p.Leu750=)
c.2073T>C (p.Leu691=)
c.2145T>C (p.Leu715=)
c.1494T>C (p.Leu498=)
n.2445T>C
n.2467T>C
13g.59911819A>TCA484003325DIAPH3c.2283T>A (p.Leu761=)
c.2250T>A (p.Leu750=)
c.2073T>A (p.Leu691=)
c.2145T>A (p.Leu715=)
c.1494T>A (p.Leu498=)
n.2445T>A
n.2467T>A
13g.59911820A>CCA388331040DIAPH3c.2282T>G (p.Leu761Arg)
c.2249T>G (p.Leu750Arg)
c.2072T>G (p.Leu691Arg)
c.2144T>G (p.Leu715Arg)
c.1493T>G (p.Leu498Arg)
n.2444T>G
n.2466T>G
13g.59911820A>GCA388331042DIAPH3c.2282T>C (p.Leu761Pro)
c.2249T>C (p.Leu750Pro)
c.2072T>C (p.Leu691Pro)
c.2144T>C (p.Leu715Pro)
c.1493T>C (p.Leu498Pro)
n.2444T>C
n.2466T>C
13g.59911820A>TCA388331044DIAPH3c.2282T>A (p.Leu761His)
c.2249T>A (p.Leu750His)
c.2072T>A (p.Leu691His)
c.2144T>A (p.Leu715His)
c.1493T>A (p.Leu498His)
n.2444T>A
n.2466T>A
13g.59911821G>ACA388331046DIAPH3c.2281C>T (p.Leu761Phe)
c.2248C>T (p.Leu750Phe)
c.2071C>T (p.Leu691Phe)
c.2143C>T (p.Leu715Phe)
c.1492C>T (p.Leu498Phe)
n.2443C>T
n.2465C>T
13g.59911821G>CCA388331051DIAPH3c.2281C>G (p.Leu761Val)
c.2248C>G (p.Leu750Val)
c.2071C>G (p.Leu691Val)
c.2143C>G (p.Leu715Val)
c.1492C>G (p.Leu498Val)
n.2443C>G
n.2465C>G
13g.59911821G=CA2095278733DIAPH3c.2281C= (p.Leu761=)
c.2248C= (p.Leu750=)
c.2071C= (p.Leu691=)
c.2143C= (p.Leu715=)
c.1492C= (p.Leu498=)
n.2443C=
n.2465C=
13g.59911821G>TCA6996418DIAPH3c.2281C>A (p.Leu761Ile)
c.2248C>A (p.Leu750Ile)
c.2071C>A (p.Leu691Ile)
c.2143C>A (p.Leu715Ile)
c.1492C>A (p.Leu498Ile)
n.2443C>A
n.2465C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911822A>CCA388331057DIAPH3c.2280T>G (p.His760Gln)
c.2247T>G (p.His749Gln)
c.2070T>G (p.His690Gln)
c.2142T>G (p.His714Gln)
c.1491T>G (p.His497Gln)
n.2442T>G
n.2464T>G
13g.59911822A>GCA484003326DIAPH3c.2280T>C (p.His760=)
c.2247T>C (p.His749=)
c.2070T>C (p.His690=)
c.2142T>C (p.His714=)
c.1491T>C (p.His497=)
n.2442T>C
n.2464T>C
13g.59911822A>TCA388331055DIAPH3c.2280T>A (p.His760Gln)
c.2247T>A (p.His749Gln)
c.2070T>A (p.His690Gln)
c.2142T>A (p.His714Gln)
c.1491T>A (p.His497Gln)
n.2442T>A
n.2464T>A
 gnomAD v4
13g.59911823T>ACA6996419DIAPH3c.2279A>T (p.His760Leu)
c.2246A>T (p.His749Leu)
c.2069A>T (p.His690Leu)
c.2141A>T (p.His714Leu)
c.1490A>T (p.His497Leu)
n.2441A>T
n.2463A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911823T>CCA388331059DIAPH3c.2279A>G (p.His760Arg)
c.2246A>G (p.His749Arg)
c.2069A>G (p.His690Arg)
c.2141A>G (p.His714Arg)
c.1490A>G (p.His497Arg)
n.2441A>G
n.2463A>G
13g.59911823T>GCA388331061DIAPH3c.2279A>C (p.His760Pro)
c.2246A>C (p.His749Pro)
c.2069A>C (p.His690Pro)
c.2141A>C (p.His714Pro)
c.1490A>C (p.His497Pro)
n.2441A>C
n.2463A>C
 gnomAD v4
13g.59911823T=CA2095278736DIAPH3c.2279A= (p.His760=)
c.2246A= (p.His749=)
c.2069A= (p.His690=)
c.2141A= (p.His714=)
c.1490A= (p.His497=)
n.2441A=
n.2463A=
13g.59911824G>ACA388331063DIAPH3c.2278C>T (p.His760Tyr)
c.2245C>T (p.His749Tyr)
c.2068C>T (p.His690Tyr)
c.2140C>T (p.His714Tyr)
c.1489C>T (p.His497Tyr)
n.2440C>T
n.2462C>T
13g.59911824G>CCA388331065DIAPH3c.2278C>G (p.His760Asp)
c.2245C>G (p.His749Asp)
c.2068C>G (p.His690Asp)
c.2140C>G (p.His714Asp)
c.1489C>G (p.His497Asp)
n.2440C>G
n.2462C>G
13g.59911824G>TCA388331066DIAPH3c.2278C>A (p.His760Asn)
c.2245C>A (p.His749Asn)
c.2068C>A (p.His690Asn)
c.2140C>A (p.His714Asn)
c.1489C>A (p.His497Asn)
n.2440C>A
n.2462C>A
13g.59911825C>ACA388331067DIAPH3c.2277G>T (p.Lys759Asn)
c.2244G>T (p.Lys748Asn)
c.2067G>T (p.Lys689Asn)
c.2139G>T (p.Lys713Asn)
c.1488G>T (p.Lys496Asn)
n.2439G>T
n.2461G>T
13g.59911825C=CA2095278738DIAPH3c.2277G= (p.Lys759=)
c.2244G= (p.Lys748=)
c.2067G= (p.Lys689=)
c.2139G= (p.Lys713=)
c.1488G= (p.Lys496=)
n.2439G=
n.2461G=
13g.59911825C>GCA388331069DIAPH3c.2277G>C (p.Lys759Asn)
c.2244G>C (p.Lys748Asn)
c.2067G>C (p.Lys689Asn)
c.2139G>C (p.Lys713Asn)
c.1488G>C (p.Lys496Asn)
n.2439G>C
n.2461G>C
13g.59911825C>TCA6996420DIAPH3c.2277G>A (p.Lys759=)
c.2244G>A (p.Lys748=)
c.2067G>A (p.Lys689=)
c.2139G>A (p.Lys713=)
c.1488G>A (p.Lys496=)
n.2439G>A
n.2461G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911826T>ACA388331070DIAPH3c.2276A>T (p.Lys759Met)
c.2243A>T (p.Lys748Met)
c.2066A>T (p.Lys689Met)
c.2138A>T (p.Lys713Met)
c.1487A>T (p.Lys496Met)
n.2438A>T
n.2460A>T
13g.59911826T>CCA388331071DIAPH3c.2276A>G (p.Lys759Arg)
c.2243A>G (p.Lys748Arg)
c.2066A>G (p.Lys689Arg)
c.2138A>G (p.Lys713Arg)
c.1487A>G (p.Lys496Arg)
n.2438A>G
n.2460A>G
13g.59911826T>GCA388331072DIAPH3c.2276A>C (p.Lys759Thr)
c.2243A>C (p.Lys748Thr)
c.2066A>C (p.Lys689Thr)
c.2138A>C (p.Lys713Thr)
c.1487A>C (p.Lys496Thr)
n.2438A>C
n.2460A>C
13g.59911827T>ACA388331080DIAPH3c.2275A>T (p.Lys759Ter)
c.2242A>T (p.Lys748Ter)
c.2065A>T (p.Lys689Ter)
c.2137A>T (p.Lys713Ter)
c.1486A>T (p.Lys496Ter)
n.2437A>T
n.2459A>T
13g.59911827T>CCA388331076DIAPH3c.2275A>G (p.Lys759Glu)
c.2242A>G (p.Lys748Glu)
c.2065A>G (p.Lys689Glu)
c.2137A>G (p.Lys713Glu)
c.1486A>G (p.Lys496Glu)
n.2437A>G
n.2459A>G
13g.59911827T>GCA388331074DIAPH3c.2275A>C (p.Lys759Gln)
c.2242A>C (p.Lys748Gln)
c.2065A>C (p.Lys689Gln)
c.2137A>C (p.Lys713Gln)
c.1486A>C (p.Lys496Gln)
n.2437A>C
n.2459A>C
13g.59911828T>ACA484003327DIAPH3c.2274A>T (p.Ile758=)
c.2241A>T (p.Ile747=)
c.2064A>T (p.Ile688=)
c.2136A>T (p.Ile712=)
c.1485A>T (p.Ile495=)
n.2436A>T
n.2458A>T
13g.59911828T>CCA388331081DIAPH3c.2274A>G (p.Ile758Met)
c.2241A>G (p.Ile747Met)
c.2064A>G (p.Ile688Met)
c.2136A>G (p.Ile712Met)
c.1485A>G (p.Ile495Met)
n.2436A>G
n.2458A>G
 gnomAD v4
13g.59911828T>GCA484003328DIAPH3c.2274A>C (p.Ile758=)
c.2241A>C (p.Ile747=)
c.2064A>C (p.Ile688=)
c.2136A>C (p.Ile712=)
c.1485A>C (p.Ile495=)
n.2436A>C
n.2458A>C
13g.59911829A=CA2095278740DIAPH3c.2273T= (p.Ile758=)
c.2240T= (p.Ile747=)
c.2063T= (p.Ile688=)
c.2135T= (p.Ile712=)
c.1484T= (p.Ile495=)
n.2435T=
n.2457T=
13g.59911829A>CCA388331083DIAPH3c.2273T>G (p.Ile758Arg)
c.2240T>G (p.Ile747Arg)
c.2063T>G (p.Ile688Arg)
c.2135T>G (p.Ile712Arg)
c.1484T>G (p.Ile495Arg)
n.2435T>G
n.2457T>G
 dbSNP
13g.59911829A>GCA388331082DIAPH3c.2273T>C (p.Ile758Thr)
c.2240T>C (p.Ile747Thr)
c.2063T>C (p.Ile688Thr)
c.2135T>C (p.Ile712Thr)
c.1484T>C (p.Ile495Thr)
n.2435T>C
n.2457T>C
 dbSNP gnomAD v3 gnomAD v4
13g.59911829A>TCA388331085DIAPH3c.2273T>A (p.Ile758Lys)
c.2240T>A (p.Ile747Lys)
c.2063T>A (p.Ile688Lys)
c.2135T>A (p.Ile712Lys)
c.1484T>A (p.Ile495Lys)
n.2435T>A
n.2457T>A
13g.59911830T>ACA388331087DIAPH3c.2272A>T (p.Ile758Leu)
c.2239A>T (p.Ile747Leu)
c.2062A>T (p.Ile688Leu)
c.2134A>T (p.Ile712Leu)
c.1483A>T (p.Ile495Leu)
n.2434A>T
n.2456A>T
 gnomAD v4
13g.59911830T>CCA388331090DIAPH3c.2272A>G (p.Ile758Val)
c.2239A>G (p.Ile747Val)
c.2062A>G (p.Ile688Val)
c.2134A>G (p.Ile712Val)
c.1483A>G (p.Ile495Val)
n.2434A>G
n.2456A>G
13g.59911830T>GCA388331092DIAPH3c.2272A>C (p.Ile758Leu)
c.2239A>C (p.Ile747Leu)
c.2062A>C (p.Ile688Leu)
c.2134A>C (p.Ile712Leu)
c.1483A>C (p.Ile495Leu)
n.2434A>C
n.2456A>C
13g.59911831T>ACA388331095DIAPH3c.2271A>T (p.Leu757Phe)
c.2238A>T (p.Leu746Phe)
c.2061A>T (p.Leu687Phe)
c.2133A>T (p.Leu711Phe)
c.1482A>T (p.Leu494Phe)
n.2433A>T
n.2455A>T
 gnomAD v4
13g.59911831T>CCA484003329DIAPH3c.2271A>G (p.Leu757=)
c.2238A>G (p.Leu746=)
c.2061A>G (p.Leu687=)
c.2133A>G (p.Leu711=)
c.1482A>G (p.Leu494=)
n.2433A>G
n.2455A>G
13g.59911831T>GCA388331096DIAPH3c.2271A>C (p.Leu757Phe)
c.2238A>C (p.Leu746Phe)
c.2061A>C (p.Leu687Phe)
c.2133A>C (p.Leu711Phe)
c.1482A>C (p.Leu494Phe)
n.2433A>C
n.2455A>C
 ClinVar dbSNP
13g.59911832A>CCA388331098DIAPH3c.2270T>G (p.Leu757Ter)
c.2237T>G (p.Leu746Ter)
c.2060T>G (p.Leu687Ter)
c.2132T>G (p.Leu711Ter)
c.1481T>G (p.Leu494Ter)
n.2432T>G
n.2454T>G
13g.59911832A>GCA388331100DIAPH3c.2270T>C (p.Leu757Ser)
c.2237T>C (p.Leu746Ser)
c.2060T>C (p.Leu687Ser)
c.2132T>C (p.Leu711Ser)
c.1481T>C (p.Leu494Ser)
n.2432T>C
n.2454T>C
13g.59911832A>TCA388331102DIAPH3c.2270T>A (p.Leu757Ter)
c.2237T>A (p.Leu746Ter)
c.2060T>A (p.Leu687Ter)
c.2132T>A (p.Leu711Ter)
c.1481T>A (p.Leu494Ter)
n.2432T>A
n.2454T>A
13g.59911833A=CA2095278744DIAPH3c.2269T= (p.Leu757=)
c.2236T= (p.Leu746=)
c.2059T= (p.Leu687=)
c.2131T= (p.Leu711=)
c.1480T= (p.Leu494=)
n.2431T=
n.2453T=
13g.59911833A>CCA388331104DIAPH3c.2269T>G (p.Leu757Val)
c.2236T>G (p.Leu746Val)
c.2059T>G (p.Leu687Val)
c.2131T>G (p.Leu711Val)
c.1480T>G (p.Leu494Val)
n.2431T>G
n.2453T>G
 gnomAD v4
13g.59911833A>GCA484003330DIAPH3c.2269T>C (p.Leu757=)
c.2236T>C (p.Leu746=)
c.2059T>C (p.Leu687=)
c.2131T>C (p.Leu711=)
c.1480T>C (p.Leu494=)
n.2431T>C
n.2453T>C
13g.59911833A>TCA250956568DIAPH3c.2269T>A (p.Leu757Ile)
c.2236T>A (p.Leu746Ile)
c.2059T>A (p.Leu687Ile)
c.2131T>A (p.Leu711Ile)
c.1480T>A (p.Leu494Ile)
n.2431T>A
n.2453T>A
 dbSNP
13g.59911834G>ACA484003331DIAPH3c.2268C>T (p.Asn756=)
c.2235C>T (p.Asn745=)
c.2058C>T (p.Asn686=)
c.2130C>T (p.Asn710=)
c.1479C>T (p.Asn493=)
n.2430C>T
n.2452C>T
13g.59911834G>CCA388331106DIAPH3c.2268C>G (p.Asn756Lys)
c.2235C>G (p.Asn745Lys)
c.2058C>G (p.Asn686Lys)
c.2130C>G (p.Asn710Lys)
c.1479C>G (p.Asn493Lys)
n.2430C>G
n.2452C>G
13g.59911834G>TCA388331107DIAPH3c.2268C>A (p.Asn756Lys)
c.2235C>A (p.Asn745Lys)
c.2058C>A (p.Asn686Lys)
c.2130C>A (p.Asn710Lys)
c.1479C>A (p.Asn493Lys)
n.2430C>A
n.2452C>A
13g.59911835T>ACA388331110DIAPH3c.2267A>T (p.Asn756Ile)
c.2234A>T (p.Asn745Ile)
c.2057A>T (p.Asn686Ile)
c.2129A>T (p.Asn710Ile)
c.1478A>T (p.Asn493Ile)
n.2429A>T
n.2451A>T
13g.59911835T>CCA388331108DIAPH3c.2267A>G (p.Asn756Ser)
c.2234A>G (p.Asn745Ser)
c.2057A>G (p.Asn686Ser)
c.2129A>G (p.Asn710Ser)
c.1478A>G (p.Asn493Ser)
n.2429A>G
n.2451A>G
 dbSNP gnomAD v2 gnomAD v4
13g.59911835T>GCA6996421DIAPH3c.2267A>C (p.Asn756Thr)
c.2234A>C (p.Asn745Thr)
c.2057A>C (p.Asn686Thr)
c.2129A>C (p.Asn710Thr)
c.1478A>C (p.Asn493Thr)
n.2429A>C
n.2451A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911835T=CA2095278751DIAPH3c.2267A= (p.Asn756=)
c.2234A= (p.Asn745=)
c.2057A= (p.Asn686=)
c.2129A= (p.Asn710=)
c.1478A= (p.Asn493=)
n.2429A=
n.2451A=
13g.59911836T>ACA388331112DIAPH3c.2266A>T (p.Asn756Tyr)
c.2233A>T (p.Asn745Tyr)
c.2056A>T (p.Asn686Tyr)
c.2128A>T (p.Asn710Tyr)
c.1477A>T (p.Asn493Tyr)
n.2428A>T
n.2450A>T
13g.59911836T>CCA388331114DIAPH3c.2266A>G (p.Asn756Asp)
c.2233A>G (p.Asn745Asp)
c.2056A>G (p.Asn686Asp)
c.2128A>G (p.Asn710Asp)
c.1477A>G (p.Asn493Asp)
n.2428A>G
n.2450A>G
13g.59911836T>GCA388331116DIAPH3c.2266A>C (p.Asn756His)
c.2233A>C (p.Asn745His)
c.2056A>C (p.Asn686His)
c.2128A>C (p.Asn710His)
c.1477A>C (p.Asn493His)
n.2428A>C
n.2450A>C
13g.59911837C>ACA388331118DIAPH3c.2266-1G>T (n.2266-1G>T)
c.2233-1G>T (n.2233-1G>T)
c.2056-1G>T (n.2056-1G>T)
c.2128-1G>T (n.2128-1G>T)
c.1477-1G>T (n.1477-1G>T)
n.2428-1G>T
n.2450-1G>T
 gnomAD v4
13g.59911837C>GCA388331119DIAPH3c.2266-1G>C (n.2266-1G>C)
c.2233-1G>C (n.2233-1G>C)
c.2056-1G>C (n.2056-1G>C)
c.2128-1G>C (n.2128-1G>C)
c.1477-1G>C (n.1477-1G>C)
n.2428-1G>C
n.2450-1G>C
13g.59911837C>TCA388331120DIAPH3c.2266-1G>A (n.2266-1G>A)
c.2233-1G>A (n.2233-1G>A)
c.2056-1G>A (n.2056-1G>A)
c.2128-1G>A (n.2128-1G>A)
c.1477-1G>A (n.1477-1G>A)
n.2428-1G>A
n.2450-1G>A
13g.59911838T>ACA388331121DIAPH3c.2266-2A>T (n.2266-2A>T)
c.2233-2A>T (n.2233-2A>T)
c.2056-2A>T (n.2056-2A>T)
c.2128-2A>T (n.2128-2A>T)
c.1477-2A>T (n.1477-2A>T)
n.2428-2A>T
n.2450-2A>T
13g.59911838T>CCA388331122DIAPH3c.2266-2A>G (n.2266-2A>G)
c.2233-2A>G (n.2233-2A>G)
c.2056-2A>G (n.2056-2A>G)
c.2128-2A>G (n.2128-2A>G)
c.1477-2A>G (n.1477-2A>G)
n.2428-2A>G
n.2450-2A>G
 ClinVar dbSNP
13g.59911838T>GCA388331123DIAPH3c.2266-2A>C (n.2266-2A>C)
c.2233-2A>C (n.2233-2A>C)
c.2056-2A>C (n.2056-2A>C)
c.2128-2A>C (n.2128-2A>C)
c.1477-2A>C (n.1477-2A>C)
n.2428-2A>C
n.2450-2A>C
13g.59911838T=CA2095278755DIAPH3c.2266-2A= (n.2266-2A=)
c.2233-2A= (n.2233-2A=)
c.2056-2A= (n.2056-2A=)
c.2128-2A= (n.2128-2A=)
c.1477-2A= (n.1477-2A=)
n.2428-2A=
n.2450-2A=
13g.59911839A>GCA2623205682DIAPH3c.2266-3T>C (n.2266-3T>C)
c.2233-3T>C (n.2233-3T>C)
c.2056-3T>C (n.2056-3T>C)
c.2128-3T>C (n.2128-3T>C)
c.1477-3T>C (n.1477-3T>C)
n.2428-3T>C
n.2450-3T>C
 gnomAD v4
13g.59911842A>GCA2575424180DIAPH3c.2266-6T>C (n.2266-6T>C)
c.2233-6T>C (n.2233-6T>C)
c.2056-6T>C (n.2056-6T>C)
c.2128-6T>C (n.2128-6T>C)
c.1477-6T>C (n.1477-6T>C)
n.2428-6T>C
n.2450-6T>C
 gnomAD v4
13g.59911845T>ACA6996422DIAPH3c.2266-9A>T (n.2266-9A>T)
c.2233-9A>T (n.2233-9A>T)
c.2056-9A>T (n.2056-9A>T)
c.2128-9A>T (n.2128-9A>T)
c.1477-9A>T (n.1477-9A>T)
n.2428-9A>T
n.2450-9A>T
 dbSNP ExAC gnomAD v2
13g.59911845T=CA2095278761DIAPH3c.2266-9A= (n.2266-9A=)
c.2233-9A= (n.2233-9A=)
c.2056-9A= (n.2056-9A=)
c.2128-9A= (n.2128-9A=)
c.1477-9A= (n.1477-9A=)
n.2428-9A=
n.2450-9A=
13g.59911849delCA2575424181DIAPH3c.2266-10del (n.2266-10del)
c.2233-10del (n.2233-10del)
c.2056-10del (n.2056-10del)
c.2128-10del (n.2128-10del)
c.1477-10del (n.1477-10del)
n.2428-10del
n.2450-10del
13g.59911848A>GCA2575424182DIAPH3c.2266-12T>C (n.2266-12T>C)
c.2233-12T>C (n.2233-12T>C)
c.2056-12T>C (n.2056-12T>C)
c.2128-12T>C (n.2128-12T>C)
c.1477-12T>C (n.1477-12T>C)
n.2428-12T>C
n.2450-12T>C
 gnomAD v4
13g.59911850C=CA2095278763DIAPH3c.2266-14G= (n.2266-14G=)
c.2233-14G= (n.2233-14G=)
c.2056-14G= (n.2056-14G=)
c.2128-14G= (n.2128-14G=)
c.1477-14G= (n.1477-14G=)
n.2428-14G=
n.2450-14G=
13g.59911850C>TCA6996423DIAPH3c.2266-14G>A (n.2266-14G>A)
c.2233-14G>A (n.2233-14G>A)
c.2056-14G>A (n.2056-14G>A)
c.2128-14G>A (n.2128-14G>A)
c.1477-14G>A (n.1477-14G>A)
n.2428-14G>A
n.2450-14G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911851delCA2575424183DIAPH3c.2266-14del (n.2266-14del)
c.2233-14del (n.2233-14del)
c.2056-14del (n.2056-14del)
c.2128-14del (n.2128-14del)
c.1477-14del (n.1477-14del)
n.2428-14del
n.2450-14del
 gnomAD v4
13g.59911851_59911855delinsCAGAACA2095278765DIAPH3c.2266-19_2266-15delinsTTCTG (n.2266-19_2266-15delinsTTCTG)
c.2233-19_2233-15delinsTTCTG (n.2233-19_2233-15delinsTTCTG)
c.2056-19_2056-15delinsTTCTG (n.2056-19_2056-15delinsTTCTG)
c.2128-19_2128-15delinsTTCTG (n.2128-19_2128-15delinsTTCTG)
c.1477-19_1477-15delinsTTCTG (n.1477-19_1477-15delinsTTCTG)
n.2428-19_2428-15delinsTTCTG
n.2450-19_2450-15delinsTTCTG
13g.59911859_59911862delCA2095278766DIAPH3c.2266-19_2266-16del (n.2266-19_2266-16del)
c.2233-19_2233-16del (n.2233-19_2233-16del)
c.2056-19_2056-16del (n.2056-19_2056-16del)
c.2128-19_2128-16del (n.2128-19_2128-16del)
c.1477-19_1477-16del (n.1477-19_1477-16del)
n.2428-19_2428-16del
n.2450-19_2450-16del
 dbSNP gnomAD v4
13g.59911853G>ACA6996424DIAPH3c.2266-17C>T (n.2266-17C>T)
c.2233-17C>T (n.2233-17C>T)
c.2056-17C>T (n.2056-17C>T)
c.2128-17C>T (n.2128-17C>T)
c.1477-17C>T (n.1477-17C>T)
n.2428-17C>T
n.2450-17C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.59911853G=CA2095278768DIAPH3c.2266-17C= (n.2266-17C=)
c.2233-17C= (n.2233-17C=)
c.2056-17C= (n.2056-17C=)
c.2128-17C= (n.2128-17C=)
c.1477-17C= (n.1477-17C=)
n.2428-17C=
n.2450-17C=
13g.59911853G>TCA2623205683DIAPH3c.2266-17C>A (n.2266-17C>A)
c.2233-17C>A (n.2233-17C>A)
c.2056-17C>A (n.2056-17C>A)
c.2128-17C>A (n.2128-17C>A)
c.1477-17C>A (n.1477-17C>A)
n.2428-17C>A
n.2450-17C>A
 gnomAD v4
13g.59911857delCA2575424184DIAPH3c.2266-21del (n.2266-21del)
c.2233-21del (n.2233-21del)
c.2056-21del (n.2056-21del)
c.2128-21del (n.2128-21del)
c.1477-21del (n.1477-21del)
n.2428-21del
n.2450-21del
 gnomAD v4
13g.59911857G=CA2095278770DIAPH3c.2266-21C= (n.2266-21C=)
c.2233-21C= (n.2233-21C=)
c.2056-21C= (n.2056-21C=)
c.2128-21C= (n.2128-21C=)
c.1477-21C= (n.1477-21C=)
n.2428-21C=
n.2450-21C=
13g.59911857G>TCA2095278769DIAPH3c.2266-21C>A (n.2266-21C>A)
c.2233-21C>A (n.2233-21C>A)
c.2056-21C>A (n.2056-21C>A)
c.2128-21C>A (n.2128-21C>A)
c.1477-21C>A (n.1477-21C>A)
n.2428-21C>A
n.2450-21C>A
 dbSNP
13g.59911861G>TCA2562622475DIAPH3c.2266-25C>A (n.2266-25C>A)
c.2233-25C>A (n.2233-25C>A)
c.2056-25C>A (n.2056-25C>A)
c.2128-25C>A (n.2128-25C>A)
c.1477-25C>A (n.1477-25C>A)
n.2428-25C>A
n.2450-25C>A
 gnomAD v4
13g.59911863T>ACA2623205684DIAPH3c.2266-27A>T (n.2266-27A>T)
c.2233-27A>T (n.2233-27A>T)
c.2056-27A>T (n.2056-27A>T)
c.2128-27A>T (n.2128-27A>T)
c.1477-27A>T (n.1477-27A>T)
n.2428-27A>T
n.2450-27A>T
 gnomAD v4
13g.59911863T>CCA2095278772DIAPH3c.2266-27A>G (n.2266-27A>G)
c.2233-27A>G (n.2233-27A>G)
c.2056-27A>G (n.2056-27A>G)
c.2128-27A>G (n.2128-27A>G)
c.1477-27A>G (n.1477-27A>G)
n.2428-27A>G
n.2450-27A>G
 dbSNP
13g.59911863T=CA2095278773DIAPH3c.2266-27A= (n.2266-27A=)
c.2233-27A= (n.2233-27A=)
c.2056-27A= (n.2056-27A=)
c.2128-27A= (n.2128-27A=)
c.1477-27A= (n.1477-27A=)
n.2428-27A=
n.2450-27A=
13g.59911864C>ACA2623205685DIAPH3c.2266-28G>T (n.2266-28G>T)
c.2233-28G>T (n.2233-28G>T)
c.2056-28G>T (n.2056-28G>T)
c.2128-28G>T (n.2128-28G>T)
c.1477-28G>T (n.1477-28G>T)
n.2428-28G>T
n.2450-28G>T
 gnomAD v4
13g.59911865T>GCA2575424185DIAPH3c.2266-29A>C (n.2266-29A>C)
c.2233-29A>C (n.2233-29A>C)
c.2056-29A>C (n.2056-29A>C)
c.2128-29A>C (n.2128-29A>C)
c.1477-29A>C (n.1477-29A>C)
n.2428-29A>C
n.2450-29A>C
13g.59911869C=CA2095278775DIAPH3c.2266-33G= (n.2266-33G=)
c.2233-33G= (n.2233-33G=)
c.2056-33G= (n.2056-33G=)
c.2128-33G= (n.2128-33G=)
c.1477-33G= (n.1477-33G=)
n.2428-33G=
n.2450-33G=
13g.59911869C>GCA250956569DIAPH3c.2266-33G>C (n.2266-33G>C)
c.2233-33G>C (n.2233-33G>C)
c.2056-33G>C (n.2056-33G>C)
c.2128-33G>C (n.2128-33G>C)
c.1477-33G>C (n.1477-33G>C)
n.2428-33G>C
n.2450-33G>C
 dbSNP gnomAD v3 gnomAD v4
13g.59911869C>TCA250956570DIAPH3c.2266-33G>A (n.2266-33G>A)
c.2233-33G>A (n.2233-33G>A)
c.2056-33G>A (n.2056-33G>A)
c.2128-33G>A (n.2128-33G>A)
c.1477-33G>A (n.1477-33G>A)
n.2428-33G>A
n.2450-33G>A
 dbSNP gnomAD v2 gnomAD v4
13g.59911870T>ACA2575424186DIAPH3c.2266-34A>T (n.2266-34A>T)
c.2233-34A>T (n.2233-34A>T)
c.2056-34A>T (n.2056-34A>T)
c.2128-34A>T (n.2128-34A>T)
c.1477-34A>T (n.1477-34A>T)
n.2428-34A>T
n.2450-34A>T
 gnomAD v4
13g.59911872A>GCA2575424187DIAPH3c.2266-36T>C (n.2266-36T>C)
c.2233-36T>C (n.2233-36T>C)
c.2056-36T>C (n.2056-36T>C)
c.2128-36T>C (n.2128-36T>C)
c.1477-36T>C (n.1477-36T>C)
n.2428-36T>C
n.2450-36T>C
13g.59911874T>CCA699640445DIAPH3c.2266-38A>G (n.2266-38A>G)
c.2233-38A>G (n.2233-38A>G)
c.2056-38A>G (n.2056-38A>G)
c.2128-38A>G (n.2128-38A>G)
c.1477-38A>G (n.1477-38A>G)
n.2428-38A>G
n.2450-38A>G
 dbSNP gnomAD v3 gnomAD v4
13g.59911874T>GCA250956571DIAPH3c.2266-38A>C (n.2266-38A>C)
c.2233-38A>C (n.2233-38A>C)
c.2056-38A>C (n.2056-38A>C)
c.2128-38A>C (n.2128-38A>C)
c.1477-38A>C (n.1477-38A>C)
n.2428-38A>C
n.2450-38A>C
 dbSNP gnomAD v3 gnomAD v4
13g.59911874T=CA2095278780DIAPH3c.2266-38A= (n.2266-38A=)
c.2233-38A= (n.2233-38A=)
c.2056-38A= (n.2056-38A=)
c.2128-38A= (n.2128-38A=)
c.1477-38A= (n.1477-38A=)
n.2428-38A=
n.2450-38A=
13g.59911875G>ACA6996425DIAPH3c.2266-39C>T (n.2266-39C>T)
c.2233-39C>T (n.2233-39C>T)
c.2056-39C>T (n.2056-39C>T)
c.2128-39C>T (n.2128-39C>T)
c.1477-39C>T (n.1477-39C>T)
n.2428-39C>T
n.2450-39C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911875G=CA2095278785DIAPH3c.2266-39C= (n.2266-39C=)
c.2233-39C= (n.2233-39C=)
c.2056-39C= (n.2056-39C=)
c.2128-39C= (n.2128-39C=)
c.1477-39C= (n.1477-39C=)
n.2428-39C=
n.2450-39C=
13g.59911875G>TCA2575424188DIAPH3c.2266-39C>A (n.2266-39C>A)
c.2233-39C>A (n.2233-39C>A)
c.2056-39C>A (n.2056-39C>A)
c.2128-39C>A (n.2128-39C>A)
c.1477-39C>A (n.1477-39C>A)
n.2428-39C>A
n.2450-39C>A
 gnomAD v4
13g.59911877A>TCA2623205686DIAPH3c.2266-41T>A (n.2266-41T>A)
c.2233-41T>A (n.2233-41T>A)
c.2056-41T>A (n.2056-41T>A)
c.2128-41T>A (n.2128-41T>A)
c.1477-41T>A (n.1477-41T>A)
n.2428-41T>A
n.2450-41T>A
 gnomAD v4
13g.59911878C>ACA610296876DIAPH3c.2266-42G>T (n.2266-42G>T)
c.2233-42G>T (n.2233-42G>T)
c.2056-42G>T (n.2056-42G>T)
c.2128-42G>T (n.2128-42G>T)
c.1477-42G>T (n.1477-42G>T)
n.2428-42G>T
n.2450-42G>T
 dbSNP gnomAD v2 gnomAD v4
13g.59911878C=CA2095278790DIAPH3c.2266-42G= (n.2266-42G=)
c.2233-42G= (n.2233-42G=)
c.2056-42G= (n.2056-42G=)
c.2128-42G= (n.2128-42G=)
c.1477-42G= (n.1477-42G=)
n.2428-42G=
n.2450-42G=
13g.59911878C>TCA610296877DIAPH3c.2266-42G>A (n.2266-42G>A)
c.2233-42G>A (n.2233-42G>A)
c.2056-42G>A (n.2056-42G>A)
c.2128-42G>A (n.2128-42G>A)
c.1477-42G>A (n.1477-42G>A)
n.2428-42G>A
n.2450-42G>A
 dbSNP gnomAD v2
13g.59911879T>CCA2575424189DIAPH3c.2266-43A>G (n.2266-43A>G)
c.2233-43A>G (n.2233-43A>G)
c.2056-43A>G (n.2056-43A>G)
c.2128-43A>G (n.2128-43A>G)
c.1477-43A>G (n.1477-43A>G)
n.2428-43A>G
n.2450-43A>G
13g.59911881C>ACA6996427DIAPH3c.2266-45G>T (n.2266-45G>T)
c.2233-45G>T (n.2233-45G>T)
c.2056-45G>T (n.2056-45G>T)
c.2128-45G>T (n.2128-45G>T)
c.1477-45G>T (n.1477-45G>T)
n.2428-45G>T
n.2450-45G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.59911881C=CA2095278795DIAPH3c.2266-45G= (n.2266-45G=)
c.2233-45G= (n.2233-45G=)
c.2056-45G= (n.2056-45G=)
c.2128-45G= (n.2128-45G=)
c.1477-45G= (n.1477-45G=)
n.2428-45G=
n.2450-45G=
13g.59911881C>TCA6996426DIAPH3c.2266-45G>A (n.2266-45G>A)
c.2233-45G>A (n.2233-45G>A)
c.2056-45G>A (n.2056-45G>A)
c.2128-45G>A (n.2128-45G>A)
c.1477-45G>A (n.1477-45G>A)
n.2428-45G>A
n.2450-45G>A
 dbSNP ExAC gnomAD v2
13g.59911882T>CCA610296880DIAPH3c.2266-46A>G (n.2266-46A>G)
c.2233-46A>G (n.2233-46A>G)
c.2056-46A>G (n.2056-46A>G)
c.2128-46A>G (n.2128-46A>G)
c.1477-46A>G (n.1477-46A>G)
n.2428-46A>G
n.2450-46A>G
 dbSNP gnomAD v2 gnomAD v4
13g.59911882T>GCA2728200228DIAPH3c.2266-46A>C (n.2266-46A>C)
c.2233-46A>C (n.2233-46A>C)
c.2056-46A>C (n.2056-46A>C)
c.2128-46A>C (n.2128-46A>C)
c.1477-46A>C (n.1477-46A>C)
n.2428-46A>C
n.2450-46A>C
 dbSNP
13g.59911882T=CA2095278796DIAPH3c.2266-46A= (n.2266-46A=)
c.2233-46A= (n.2233-46A=)
c.2056-46A= (n.2056-46A=)
c.2128-46A= (n.2128-46A=)
c.1477-46A= (n.1477-46A=)
n.2428-46A=
n.2450-46A=
13g.59911883T>ACA2594291732DIAPH3c.2266-47A>T (n.2266-47A>T)
c.2233-47A>T (n.2233-47A>T)
c.2056-47A>T (n.2056-47A>T)
c.2128-47A>T (n.2128-47A>T)
c.1477-47A>T (n.1477-47A>T)
n.2428-47A>T
n.2450-47A>T
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched