Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.114403953G>ACA466781917WHRNc.705C>T (p.Ser235=)
c.2361C>T (p.Ser787=)
c.1334C>T
n.2242C>T
c.1212C>T (p.Ser404=)
c.1308C>T (p.Ser436=)
c.2358C>T (p.Ser786=)
c.1698C>T (p.Ser566=)
c.2394C>T (p.Ser798=)
c.2391C>T (p.Ser797=)
c.2268C>T (p.Ser756=)
c.2151C>T (p.Ser717=)
c.1071C>T (p.Ser357=)
n.3298C>T
n.3196C>T
n.2609C>T
n.2507C>T
 gnomAD v4
9g.114403953G>CCA374619655WHRNc.705C>G (p.Ser235Arg)
c.2361C>G (p.Ser787Arg)
c.1334C>G
n.2242C>G
c.1212C>G (p.Ser404Arg)
c.1308C>G (p.Ser436Arg)
c.2358C>G (p.Ser786Arg)
c.1698C>G (p.Ser566Arg)
c.2394C>G (p.Ser798Arg)
c.2391C>G (p.Ser797Arg)
c.2268C>G (p.Ser756Arg)
c.2151C>G (p.Ser717Arg)
c.1071C>G (p.Ser357Arg)
n.3298C>G
n.3196C>G
n.2609C>G
n.2507C>G
9g.114403953G>TCA374619656WHRNc.705C>A (p.Ser235Arg)
c.2361C>A (p.Ser787Arg)
c.1334C>A
n.2242C>A
c.1212C>A (p.Ser404Arg)
c.1308C>A (p.Ser436Arg)
c.2358C>A (p.Ser786Arg)
c.1698C>A (p.Ser566Arg)
c.2394C>A (p.Ser798Arg)
c.2391C>A (p.Ser797Arg)
c.2268C>A (p.Ser756Arg)
c.2151C>A (p.Ser717Arg)
c.1071C>A (p.Ser357Arg)
n.3298C>A
n.3196C>A
n.2609C>A
n.2507C>A
 gnomAD v4
9g.114403954C>ACA374619658WHRNc.704G>T (p.Ser235Ile)
c.2360G>T (p.Ser787Ile)
c.1333G>T
n.2241G>T
c.1211G>T (p.Ser404Ile)
c.1307G>T (p.Ser436Ile)
c.2357G>T (p.Ser786Ile)
c.1697G>T (p.Ser566Ile)
c.2393G>T (p.Ser798Ile)
c.2390G>T (p.Ser797Ile)
c.2267G>T (p.Ser756Ile)
c.2150G>T (p.Ser717Ile)
c.1070G>T (p.Ser357Ile)
n.3297G>T
n.3195G>T
n.2608G>T
n.2506G>T
 dbSNP gnomAD v2 gnomAD v4
9g.114403954C=CA1873825867WHRNc.704G= (p.Ser235=)
c.2360G= (p.Ser787=)
c.1333G=
n.2241G=
c.1211G= (p.Ser404=)
c.1307G= (p.Ser436=)
c.2357G= (p.Ser786=)
c.1697G= (p.Ser566=)
c.2393G= (p.Ser798=)
c.2390G= (p.Ser797=)
c.2267G= (p.Ser756=)
c.2150G= (p.Ser717=)
c.1070G= (p.Ser357=)
n.3297G=
n.3195G=
n.2608G=
n.2506G=
9g.114403954C>GCA374619660WHRNc.704G>C (p.Ser235Thr)
c.2360G>C (p.Ser787Thr)
c.1333G>C
n.2241G>C
c.1211G>C (p.Ser404Thr)
c.1307G>C (p.Ser436Thr)
c.2357G>C (p.Ser786Thr)
c.1697G>C (p.Ser566Thr)
c.2393G>C (p.Ser798Thr)
c.2390G>C (p.Ser797Thr)
c.2267G>C (p.Ser756Thr)
c.2150G>C (p.Ser717Thr)
c.1070G>C (p.Ser357Thr)
n.3297G>C
n.3195G>C
n.2608G>C
n.2506G>C
9g.114403954C>TCA374619661WHRNc.704G>A (p.Ser235Asn)
c.2360G>A (p.Ser787Asn)
c.1333G>A
n.2241G>A
c.1211G>A (p.Ser404Asn)
c.1307G>A (p.Ser436Asn)
c.2357G>A (p.Ser786Asn)
c.1697G>A (p.Ser566Asn)
c.2393G>A (p.Ser798Asn)
c.2390G>A (p.Ser797Asn)
c.2267G>A (p.Ser756Asn)
c.2150G>A (p.Ser717Asn)
c.1070G>A (p.Ser357Asn)
n.3297G>A
n.3195G>A
n.2608G>A
n.2506G>A
 dbSNP gnomAD v2 gnomAD v4
9g.114403955T>ACA374619662WHRNc.703A>T (p.Ser235Cys)
c.2359A>T (p.Ser787Cys)
c.1332A>T
n.2240A>T
c.1210A>T (p.Ser404Cys)
c.1306A>T (p.Ser436Cys)
c.2356A>T (p.Ser786Cys)
c.1696A>T (p.Ser566Cys)
c.2392A>T (p.Ser798Cys)
c.2389A>T (p.Ser797Cys)
c.2266A>T (p.Ser756Cys)
c.2149A>T (p.Ser717Cys)
c.1069A>T (p.Ser357Cys)
n.3296A>T
n.3194A>T
n.2607A>T
n.2505A>T
9g.114403955T>CCA374619668WHRNc.703A>G (p.Ser235Gly)
c.2359A>G (p.Ser787Gly)
c.1332A>G
n.2240A>G
c.1210A>G (p.Ser404Gly)
c.1306A>G (p.Ser436Gly)
c.2356A>G (p.Ser786Gly)
c.1696A>G (p.Ser566Gly)
c.2392A>G (p.Ser798Gly)
c.2389A>G (p.Ser797Gly)
c.2266A>G (p.Ser756Gly)
c.2149A>G (p.Ser717Gly)
c.1069A>G (p.Ser357Gly)
n.3296A>G
n.3194A>G
n.2607A>G
n.2505A>G
9g.114403955T>GCA374619669WHRNc.703A>C (p.Ser235Arg)
c.2359A>C (p.Ser787Arg)
c.1332A>C
n.2240A>C
c.1210A>C (p.Ser404Arg)
c.1306A>C (p.Ser436Arg)
c.2356A>C (p.Ser786Arg)
c.1696A>C (p.Ser566Arg)
c.2392A>C (p.Ser798Arg)
c.2389A>C (p.Ser797Arg)
c.2266A>C (p.Ser756Arg)
c.2149A>C (p.Ser717Arg)
c.1069A>C (p.Ser357Arg)
n.3296A>C
n.3194A>C
n.2607A>C
n.2505A>C
9g.114403956C>ACA374619671WHRNc.702G>T (p.Lys234Asn)
c.2358G>T (p.Lys786Asn)
c.1331G>T
n.2239G>T
c.1209G>T (p.Lys403Asn)
c.1305G>T (p.Lys435Asn)
c.2355G>T (p.Lys785Asn)
c.1695G>T (p.Lys565Asn)
c.2391G>T (p.Lys797Asn)
c.2388G>T (p.Lys796Asn)
c.2265G>T (p.Lys755Asn)
c.2148G>T (p.Lys716Asn)
c.1068G>T (p.Lys356Asn)
n.3295G>T
n.3193G>T
n.2606G>T
n.2504G>T
9g.114403956C>GCA374619673WHRNc.702G>C (p.Lys234Asn)
c.2358G>C (p.Lys786Asn)
c.1331G>C
n.2239G>C
c.1209G>C (p.Lys403Asn)
c.1305G>C (p.Lys435Asn)
c.2355G>C (p.Lys785Asn)
c.1695G>C (p.Lys565Asn)
c.2391G>C (p.Lys797Asn)
c.2388G>C (p.Lys796Asn)
c.2265G>C (p.Lys755Asn)
c.2148G>C (p.Lys716Asn)
c.1068G>C (p.Lys356Asn)
n.3295G>C
n.3193G>C
n.2606G>C
n.2504G>C
9g.114403956C>TCA466781918WHRNc.702G>A (p.Lys234=)
c.2358G>A (p.Lys786=)
c.1331G>A
n.2239G>A
c.1209G>A (p.Lys403=)
c.1305G>A (p.Lys435=)
c.2355G>A (p.Lys785=)
c.1695G>A (p.Lys565=)
c.2391G>A (p.Lys797=)
c.2388G>A (p.Lys796=)
c.2265G>A (p.Lys755=)
c.2148G>A (p.Lys716=)
c.1068G>A (p.Lys356=)
n.3295G>A
n.3193G>A
n.2606G>A
n.2504G>A
9g.114403957T>ACA374619675WHRNc.701A>T (p.Lys234Met)
c.2357A>T (p.Lys786Met)
c.1330A>T
n.2238A>T
c.1208A>T (p.Lys403Met)
c.1304A>T (p.Lys435Met)
c.2354A>T (p.Lys785Met)
c.1694A>T (p.Lys565Met)
c.2390A>T (p.Lys797Met)
c.2387A>T (p.Lys796Met)
c.2264A>T (p.Lys755Met)
c.2147A>T (p.Lys716Met)
c.1067A>T (p.Lys356Met)
n.3294A>T
n.3192A>T
n.2605A>T
n.2503A>T
9g.114403957T>CCA374619677WHRNc.701A>G (p.Lys234Arg)
c.2357A>G (p.Lys786Arg)
c.1330A>G
n.2238A>G
c.1208A>G (p.Lys403Arg)
c.1304A>G (p.Lys435Arg)
c.2354A>G (p.Lys785Arg)
c.1694A>G (p.Lys565Arg)
c.2390A>G (p.Lys797Arg)
c.2387A>G (p.Lys796Arg)
c.2264A>G (p.Lys755Arg)
c.2147A>G (p.Lys716Arg)
c.1067A>G (p.Lys356Arg)
n.3294A>G
n.3192A>G
n.2605A>G
n.2503A>G
9g.114403957T>GCA374619678WHRNc.701A>C (p.Lys234Thr)
c.2357A>C (p.Lys786Thr)
c.1330A>C
n.2238A>C
c.1208A>C (p.Lys403Thr)
c.1304A>C (p.Lys435Thr)
c.2354A>C (p.Lys785Thr)
c.1694A>C (p.Lys565Thr)
c.2390A>C (p.Lys797Thr)
c.2387A>C (p.Lys796Thr)
c.2264A>C (p.Lys755Thr)
c.2147A>C (p.Lys716Thr)
c.1067A>C (p.Lys356Thr)
n.3294A>C
n.3192A>C
n.2605A>C
n.2503A>C
9g.114403957_114403960delinsTTGGCA1873825868WHRNc.698_701delinsCCAA (p.Thr233=)
c.2354_2357delinsCCAA (p.Thr785=)
c.1327_1330delinsCCAA
n.2235_2238delinsCCAA
c.1205_1208delinsCCAA (p.Thr402=)
c.1301_1304delinsCCAA (p.Thr434=)
c.2351_2354delinsCCAA (p.Thr784=)
c.1691_1694delinsCCAA (p.Thr564=)
c.2387_2390delinsCCAA (p.Thr796=)
c.2384_2387delinsCCAA (p.Thr795=)
c.2261_2264delinsCCAA (p.Thr754=)
c.2144_2147delinsCCAA (p.Thr715=)
c.1064_1067delinsCCAA (p.Thr355=)
n.3291_3294delinsCCAA
n.3189_3192delinsCCAA
n.2602_2605delinsCCAA
n.2500_2503delinsCCAA
9g.114403958T>ACA374619679WHRNc.700A>T (p.Lys234Ter)
c.2356A>T (p.Lys786Ter)
c.1329A>T
n.2237A>T
c.1207A>T (p.Lys403Ter)
c.1303A>T (p.Lys435Ter)
c.2353A>T (p.Lys785Ter)
c.1693A>T (p.Lys565Ter)
c.2389A>T (p.Lys797Ter)
c.2386A>T (p.Lys796Ter)
c.2263A>T (p.Lys755Ter)
c.2146A>T (p.Lys716Ter)
c.1066A>T (p.Lys356Ter)
n.3293A>T
n.3191A>T
n.2604A>T
n.2502A>T
9g.114403958T>CCA374619680WHRNc.700A>G (p.Lys234Glu)
c.2356A>G (p.Lys786Glu)
c.1329A>G
n.2237A>G
c.1207A>G (p.Lys403Glu)
c.1303A>G (p.Lys435Glu)
c.2353A>G (p.Lys785Glu)
c.1693A>G (p.Lys565Glu)
c.2389A>G (p.Lys797Glu)
c.2386A>G (p.Lys796Glu)
c.2263A>G (p.Lys755Glu)
c.2146A>G (p.Lys716Glu)
c.1066A>G (p.Lys356Glu)
n.3293A>G
n.3191A>G
n.2604A>G
n.2502A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114403958T>GCA374619682WHRNc.700A>C (p.Lys234Gln)
c.2356A>C (p.Lys786Gln)
c.1329A>C
n.2237A>C
c.1207A>C (p.Lys403Gln)
c.1303A>C (p.Lys435Gln)
c.2353A>C (p.Lys785Gln)
c.1693A>C (p.Lys565Gln)
c.2389A>C (p.Lys797Gln)
c.2386A>C (p.Lys796Gln)
c.2263A>C (p.Lys755Gln)
c.2146A>C (p.Lys716Gln)
c.1066A>C (p.Lys356Gln)
n.3293A>C
n.3191A>C
n.2604A>C
n.2502A>C
9g.114403958T=CA1873825869WHRNc.700A= (p.Lys234=)
c.2356A= (p.Lys786=)
c.1329A=
n.2237A=
c.1207A= (p.Lys403=)
c.1303A= (p.Lys435=)
c.2353A= (p.Lys785=)
c.1693A= (p.Lys565=)
c.2389A= (p.Lys797=)
c.2386A= (p.Lys796=)
c.2263A= (p.Lys755=)
c.2146A= (p.Lys716=)
c.1066A= (p.Lys356=)
n.3293A=
n.3191A=
n.2604A=
n.2502A=
9g.114403961_114403963delCA5205660WHRNc.698_700del (p.Thr233del)
c.2354_2356del (p.Thr785del)
c.1327_1329del
n.2235_2237del
c.1205_1207del (p.Thr402del)
c.1301_1303del (p.Thr434del)
c.2351_2353del (p.Thr784del)
c.1691_1693del (p.Thr564del)
c.2387_2389del (p.Thr796del)
c.2384_2386del (p.Thr795del)
c.2261_2263del (p.Thr754del)
c.2144_2146del (p.Thr715del)
c.1064_1066del (p.Thr355del)
n.3291_3293del
n.3189_3191del
n.2602_2604del
n.2500_2502del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114403959G>ACA466781920WHRNc.699C>T (p.Thr233=)
c.2355C>T (p.Thr785=)
c.1328C>T
n.2236C>T
c.1206C>T (p.Thr402=)
c.1302C>T (p.Thr434=)
c.2352C>T (p.Thr784=)
c.1692C>T (p.Thr564=)
c.2388C>T (p.Thr796=)
c.2385C>T (p.Thr795=)
c.2262C>T (p.Thr754=)
c.2145C>T (p.Thr715=)
c.1065C>T (p.Thr355=)
n.3292C>T
n.3190C>T
n.2603C>T
n.2501C>T
 ClinVar dbSNP
9g.114403959G>CCA466781922WHRNc.699C>G (p.Thr233=)
c.2355C>G (p.Thr785=)
c.1328C>G
n.2236C>G
c.1206C>G (p.Thr402=)
c.1302C>G (p.Thr434=)
c.2352C>G (p.Thr784=)
c.1692C>G (p.Thr564=)
c.2388C>G (p.Thr796=)
c.2385C>G (p.Thr795=)
c.2262C>G (p.Thr754=)
c.2145C>G (p.Thr715=)
c.1065C>G (p.Thr355=)
n.3292C>G
n.3190C>G
n.2603C>G
n.2501C>G
9g.114403959G=CA1873825870WHRNc.699C= (p.Thr233=)
c.2355C= (p.Thr785=)
c.1328C=
n.2236C=
c.1206C= (p.Thr402=)
c.1302C= (p.Thr434=)
c.2352C= (p.Thr784=)
c.1692C= (p.Thr564=)
c.2388C= (p.Thr796=)
c.2385C= (p.Thr795=)
c.2262C= (p.Thr754=)
c.2145C= (p.Thr715=)
c.1065C= (p.Thr355=)
n.3292C=
n.3190C=
n.2603C=
n.2501C=
9g.114403959G>TCA466781921WHRNc.699C>A (p.Thr233=)
c.2355C>A (p.Thr785=)
c.1328C>A
n.2236C>A
c.1206C>A (p.Thr402=)
c.1302C>A (p.Thr434=)
c.2352C>A (p.Thr784=)
c.1692C>A (p.Thr564=)
c.2388C>A (p.Thr796=)
c.2385C>A (p.Thr795=)
c.2262C>A (p.Thr754=)
c.2145C>A (p.Thr715=)
c.1065C>A (p.Thr355=)
n.3292C>A
n.3190C>A
n.2603C>A
n.2501C>A
 gnomAD v4
9g.114403960G>ACA136914WHRNc.698C>T (p.Thr233Ile)
c.2354C>T (p.Thr785Ile)
c.1327C>T
n.2235C>T
c.1205C>T (p.Thr402Ile)
c.1301C>T (p.Thr434Ile)
c.2351C>T (p.Thr784Ile)
c.1691C>T (p.Thr564Ile)
c.2387C>T (p.Thr796Ile)
c.2384C>T (p.Thr795Ile)
c.2261C>T (p.Thr754Ile)
c.2144C>T (p.Thr715Ile)
c.1064C>T (p.Thr355Ile)
n.3291C>T
n.3189C>T
n.2602C>T
n.2500C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114403960G>CCA374619688WHRNc.698C>G (p.Thr233Ser)
c.2354C>G (p.Thr785Ser)
c.1327C>G
n.2235C>G
c.1205C>G (p.Thr402Ser)
c.1301C>G (p.Thr434Ser)
c.2351C>G (p.Thr784Ser)
c.1691C>G (p.Thr564Ser)
c.2387C>G (p.Thr796Ser)
c.2384C>G (p.Thr795Ser)
c.2261C>G (p.Thr754Ser)
c.2144C>G (p.Thr715Ser)
c.1064C>G (p.Thr355Ser)
n.3291C>G
n.3189C>G
n.2602C>G
n.2500C>G
9g.114403960G=CA1873825871WHRNc.698C= (p.Thr233=)
c.2354C= (p.Thr785=)
c.1327C=
n.2235C=
c.1205C= (p.Thr402=)
c.1301C= (p.Thr434=)
c.2351C= (p.Thr784=)
c.1691C= (p.Thr564=)
c.2387C= (p.Thr796=)
c.2384C= (p.Thr795=)
c.2261C= (p.Thr754=)
c.2144C= (p.Thr715=)
c.1064C= (p.Thr355=)
n.3291C=
n.3189C=
n.2602C=
n.2500C=
9g.114403960G>TCA374619690WHRNc.698C>A (p.Thr233Asn)
c.2354C>A (p.Thr785Asn)
c.1327C>A
n.2235C>A
c.1205C>A (p.Thr402Asn)
c.1301C>A (p.Thr434Asn)
c.2351C>A (p.Thr784Asn)
c.1691C>A (p.Thr564Asn)
c.2387C>A (p.Thr796Asn)
c.2384C>A (p.Thr795Asn)
c.2261C>A (p.Thr754Asn)
c.2144C>A (p.Thr715Asn)
c.1064C>A (p.Thr355Asn)
n.3291C>A
n.3189C>A
n.2602C>A
n.2500C>A
 gnomAD v4
9g.114403961T>ACA374619691WHRNc.697A>T (p.Thr233Ser)
c.2353A>T (p.Thr785Ser)
c.1326A>T
n.2234A>T
c.1204A>T (p.Thr402Ser)
c.1300A>T (p.Thr434Ser)
c.2350A>T (p.Thr784Ser)
c.1690A>T (p.Thr564Ser)
c.2386A>T (p.Thr796Ser)
c.2383A>T (p.Thr795Ser)
c.2260A>T (p.Thr754Ser)
c.2143A>T (p.Thr715Ser)
c.1063A>T (p.Thr355Ser)
n.3290A>T
n.3188A>T
n.2601A>T
n.2499A>T
9g.114403961T>CCA374619693WHRNc.697A>G (p.Thr233Ala)
c.2353A>G (p.Thr785Ala)
c.1326A>G
n.2234A>G
c.1204A>G (p.Thr402Ala)
c.1300A>G (p.Thr434Ala)
c.2350A>G (p.Thr784Ala)
c.1690A>G (p.Thr564Ala)
c.2386A>G (p.Thr796Ala)
c.2383A>G (p.Thr795Ala)
c.2260A>G (p.Thr754Ala)
c.2143A>G (p.Thr715Ala)
c.1063A>G (p.Thr355Ala)
n.3290A>G
n.3188A>G
n.2601A>G
n.2499A>G
9g.114403961T>GCA374619694WHRNc.697A>C (p.Thr233Pro)
c.2353A>C (p.Thr785Pro)
c.1326A>C
n.2234A>C
c.1204A>C (p.Thr402Pro)
c.1300A>C (p.Thr434Pro)
c.2350A>C (p.Thr784Pro)
c.1690A>C (p.Thr564Pro)
c.2386A>C (p.Thr796Pro)
c.2383A>C (p.Thr795Pro)
c.2260A>C (p.Thr754Pro)
c.2143A>C (p.Thr715Pro)
c.1063A>C (p.Thr355Pro)
n.3290A>C
n.3188A>C
n.2601A>C
n.2499A>C
9g.114403962G>ACA466781925WHRNc.696C>T (p.Ser232=)
c.2352C>T (p.Ser784=)
c.1325C>T
n.2233C>T
c.1203C>T (p.Ser401=)
c.1299C>T (p.Ser433=)
c.2349C>T (p.Ser783=)
c.1689C>T (p.Ser563=)
c.2385C>T (p.Ser795=)
c.2382C>T (p.Ser794=)
c.2259C>T (p.Ser753=)
c.2142C>T (p.Ser714=)
c.1062C>T (p.Ser354=)
n.3289C>T
n.3187C>T
n.2600C>T
n.2498C>T
 dbSNP gnomAD v4
9g.114403962G>CCA466781927WHRNc.696C>G (p.Ser232=)
c.2352C>G (p.Ser784=)
c.1325C>G
n.2233C>G
c.1203C>G (p.Ser401=)
c.1299C>G (p.Ser433=)
c.2349C>G (p.Ser783=)
c.1689C>G (p.Ser563=)
c.2385C>G (p.Ser795=)
c.2382C>G (p.Ser794=)
c.2259C>G (p.Ser753=)
c.2142C>G (p.Ser714=)
c.1062C>G (p.Ser354=)
n.3289C>G
n.3187C>G
n.2600C>G
n.2498C>G
9g.114403962G=CA1873825872WHRNc.696C= (p.Ser232=)
c.2352C= (p.Ser784=)
c.1325C=
n.2233C=
c.1203C= (p.Ser401=)
c.1299C= (p.Ser433=)
c.2349C= (p.Ser783=)
c.1689C= (p.Ser563=)
c.2385C= (p.Ser795=)
c.2382C= (p.Ser794=)
c.2259C= (p.Ser753=)
c.2142C= (p.Ser714=)
c.1062C= (p.Ser354=)
n.3289C=
n.3187C=
n.2600C=
n.2498C=
9g.114403962G>TCA466781928WHRNc.696C>A (p.Ser232=)
c.2352C>A (p.Ser784=)
c.1325C>A
n.2233C>A
c.1203C>A (p.Ser401=)
c.1299C>A (p.Ser433=)
c.2349C>A (p.Ser783=)
c.1689C>A (p.Ser563=)
c.2385C>A (p.Ser795=)
c.2382C>A (p.Ser794=)
c.2259C>A (p.Ser753=)
c.2142C>A (p.Ser714=)
c.1062C>A (p.Ser354=)
n.3289C>A
n.3187C>A
n.2600C>A
n.2498C>A
 gnomAD v4
9g.114403963G>ACA374619699WHRNc.695C>T (p.Ser232Phe)
c.2351C>T (p.Ser784Phe)
c.1324C>T
n.2232C>T
c.1202C>T (p.Ser401Phe)
c.1298C>T (p.Ser433Phe)
c.2348C>T (p.Ser783Phe)
c.1688C>T (p.Ser563Phe)
c.2384C>T (p.Ser795Phe)
c.2381C>T (p.Ser794Phe)
c.2258C>T (p.Ser753Phe)
c.2141C>T (p.Ser714Phe)
c.1061C>T (p.Ser354Phe)
n.3288C>T
n.3186C>T
n.2599C>T
n.2497C>T
 dbSNP gnomAD v4
9g.114403963G>CCA374619696WHRNc.695C>G (p.Ser232Cys)
c.2351C>G (p.Ser784Cys)
c.1324C>G
n.2232C>G
c.1202C>G (p.Ser401Cys)
c.1298C>G (p.Ser433Cys)
c.2348C>G (p.Ser783Cys)
c.1688C>G (p.Ser563Cys)
c.2384C>G (p.Ser795Cys)
c.2381C>G (p.Ser794Cys)
c.2258C>G (p.Ser753Cys)
c.2141C>G (p.Ser714Cys)
c.1061C>G (p.Ser354Cys)
n.3288C>G
n.3186C>G
n.2599C>G
n.2497C>G
 ClinVar dbSNP gnomAD v4
9g.114403963G=CA1873825873WHRNc.695C= (p.Ser232=)
c.2351C= (p.Ser784=)
c.1324C=
n.2232C=
c.1202C= (p.Ser401=)
c.1298C= (p.Ser433=)
c.2348C= (p.Ser783=)
c.1688C= (p.Ser563=)
c.2384C= (p.Ser795=)
c.2381C= (p.Ser794=)
c.2258C= (p.Ser753=)
c.2141C= (p.Ser714=)
c.1061C= (p.Ser354=)
n.3288C=
n.3186C=
n.2599C=
n.2497C=
9g.114403963G>TCA374619697WHRNc.695C>A (p.Ser232Tyr)
c.2351C>A (p.Ser784Tyr)
c.1324C>A
n.2232C>A
c.1202C>A (p.Ser401Tyr)
c.1298C>A (p.Ser433Tyr)
c.2348C>A (p.Ser783Tyr)
c.1688C>A (p.Ser563Tyr)
c.2384C>A (p.Ser795Tyr)
c.2381C>A (p.Ser794Tyr)
c.2258C>A (p.Ser753Tyr)
c.2141C>A (p.Ser714Tyr)
c.1061C>A (p.Ser354Tyr)
n.3288C>A
n.3186C>A
n.2599C>A
n.2497C>A
 gnomAD v4
9g.114403964A=CA1873825874WHRNc.694T= (p.Ser232=)
c.2350T= (p.Ser784=)
c.1323T=
n.2231T=
c.1201T= (p.Ser401=)
c.1297T= (p.Ser433=)
c.2347T= (p.Ser783=)
c.1687T= (p.Ser563=)
c.2383T= (p.Ser795=)
c.2380T= (p.Ser794=)
c.2257T= (p.Ser753=)
c.2140T= (p.Ser714=)
c.1060T= (p.Ser354=)
n.3287T=
n.3185T=
n.2598T=
n.2496T=
9g.114403964A>CCA374619701WHRNc.694T>G (p.Ser232Ala)
c.2350T>G (p.Ser784Ala)
c.1323T>G
n.2231T>G
c.1201T>G (p.Ser401Ala)
c.1297T>G (p.Ser433Ala)
c.2347T>G (p.Ser783Ala)
c.1687T>G (p.Ser563Ala)
c.2383T>G (p.Ser795Ala)
c.2380T>G (p.Ser794Ala)
c.2257T>G (p.Ser753Ala)
c.2140T>G (p.Ser714Ala)
c.1060T>G (p.Ser354Ala)
n.3287T>G
n.3185T>G
n.2598T>G
n.2496T>G
 dbSNP
9g.114403964A>GCA374619702WHRNc.694T>C (p.Ser232Pro)
c.2350T>C (p.Ser784Pro)
c.1323T>C
n.2231T>C
c.1201T>C (p.Ser401Pro)
c.1297T>C (p.Ser433Pro)
c.2347T>C (p.Ser783Pro)
c.1687T>C (p.Ser563Pro)
c.2383T>C (p.Ser795Pro)
c.2380T>C (p.Ser794Pro)
c.2257T>C (p.Ser753Pro)
c.2140T>C (p.Ser714Pro)
c.1060T>C (p.Ser354Pro)
n.3287T>C
n.3185T>C
n.2598T>C
n.2496T>C
 dbSNP gnomAD v3 gnomAD v4
9g.114403964A>TCA374619704WHRNc.694T>A (p.Ser232Thr)
c.2350T>A (p.Ser784Thr)
c.1323T>A
n.2231T>A
c.1201T>A (p.Ser401Thr)
c.1297T>A (p.Ser433Thr)
c.2347T>A (p.Ser783Thr)
c.1687T>A (p.Ser563Thr)
c.2383T>A (p.Ser795Thr)
c.2380T>A (p.Ser794Thr)
c.2257T>A (p.Ser753Thr)
c.2140T>A (p.Ser714Thr)
c.1060T>A (p.Ser354Thr)
n.3287T>A
n.3185T>A
n.2598T>A
n.2496T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114403965C>ACA466781929WHRNc.693G>T (p.Val231=)
c.2349G>T (p.Val783=)
c.1322G>T
n.2230G>T
c.1200G>T (p.Val400=)
c.1296G>T (p.Val432=)
c.2346G>T (p.Val782=)
c.1686G>T (p.Val562=)
c.2382G>T (p.Val794=)
c.2379G>T (p.Val793=)
c.2256G>T (p.Val752=)
c.2139G>T (p.Val713=)
c.1059G>T (p.Val353=)
n.3286G>T
n.3184G>T
n.2597G>T
n.2495G>T
9g.114403965C=CA1873825875WHRNc.693G= (p.Val231=)
c.2349G= (p.Val783=)
c.1322G=
n.2230G=
c.1200G= (p.Val400=)
c.1296G= (p.Val432=)
c.2346G= (p.Val782=)
c.1686G= (p.Val562=)
c.2382G= (p.Val794=)
c.2379G= (p.Val793=)
c.2256G= (p.Val752=)
c.2139G= (p.Val713=)
c.1059G= (p.Val353=)
n.3286G=
n.3184G=
n.2597G=
n.2495G=
9g.114403965C>GCA466781930WHRNc.693G>C (p.Val231=)
c.2349G>C (p.Val783=)
c.1322G>C
n.2230G>C
c.1200G>C (p.Val400=)
c.1296G>C (p.Val432=)
c.2346G>C (p.Val782=)
c.1686G>C (p.Val562=)
c.2382G>C (p.Val794=)
c.2379G>C (p.Val793=)
c.2256G>C (p.Val752=)
c.2139G>C (p.Val713=)
c.1059G>C (p.Val353=)
n.3286G>C
n.3184G>C
n.2597G>C
n.2495G>C
9g.114403965C>TCA5205661WHRNc.693G>A (p.Val231=)
c.2349G>A (p.Val783=)
c.1322G>A
n.2230G>A
c.1200G>A (p.Val400=)
c.1296G>A (p.Val432=)
c.2346G>A (p.Val782=)
c.1686G>A (p.Val562=)
c.2382G>A (p.Val794=)
c.2379G>A (p.Val793=)
c.2256G>A (p.Val752=)
c.2139G>A (p.Val713=)
c.1059G>A (p.Val353=)
n.3286G>A
n.3184G>A
n.2597G>A
n.2495G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.114403965_114403966delinsTGCA2499219589WHRNc.692_693delinsCA (p.Val231Ala)
c.2348_2349delinsCA (p.Val783Ala)
c.1321_1322delinsCA
n.2229_2230delinsCA
c.1199_1200delinsCA (p.Val400Ala)
c.1295_1296delinsCA (p.Val432Ala)
c.2345_2346delinsCA (p.Val782Ala)
c.1685_1686delinsCA (p.Val562Ala)
c.2381_2382delinsCA (p.Val794Ala)
c.2378_2379delinsCA (p.Val793Ala)
c.2255_2256delinsCA (p.Val752Ala)
c.2138_2139delinsCA (p.Val713Ala)
c.1058_1059delinsCA (p.Val353Ala)
n.3285_3286delinsCA
n.3183_3184delinsCA
n.2596_2597delinsCA
n.2494_2495delinsCA
 ClinVar
9g.114403966A=CA1873825876WHRNc.692T= (p.Val231=)
c.2348T= (p.Val783=)
c.1321T=
n.2229T=
c.1199T= (p.Val400=)
c.1295T= (p.Val432=)
c.2345T= (p.Val782=)
c.1685T= (p.Val562=)
c.2381T= (p.Val794=)
c.2378T= (p.Val793=)
c.2255T= (p.Val752=)
c.2138T= (p.Val713=)
c.1058T= (p.Val353=)
n.3285T=
n.3183T=
n.2596T=
n.2494T=
9g.114403966A>CCA374619706WHRNc.692T>G (p.Val231Gly)
c.2348T>G (p.Val783Gly)
c.1321T>G
n.2229T>G
c.1199T>G (p.Val400Gly)
c.1295T>G (p.Val432Gly)
c.2345T>G (p.Val782Gly)
c.1685T>G (p.Val562Gly)
c.2381T>G (p.Val794Gly)
c.2378T>G (p.Val793Gly)
c.2255T>G (p.Val752Gly)
c.2138T>G (p.Val713Gly)
c.1058T>G (p.Val353Gly)
n.3285T>G
n.3183T>G
n.2596T>G
n.2494T>G
9g.114403966A>GCA136912WHRNc.692T>C (p.Val231Ala)
c.2348T>C (p.Val783Ala)
c.1321T>C
n.2229T>C
c.1199T>C (p.Val400Ala)
c.1295T>C (p.Val432Ala)
c.2345T>C (p.Val782Ala)
c.1685T>C (p.Val562Ala)
c.2381T>C (p.Val794Ala)
c.2378T>C (p.Val793Ala)
c.2255T>C (p.Val752Ala)
c.2138T>C (p.Val713Ala)
c.1058T>C (p.Val353Ala)
n.3285T>C
n.3183T>C
n.2596T>C
n.2494T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.114403966A>TCA374619709WHRNc.692T>A (p.Val231Glu)
c.2348T>A (p.Val783Glu)
c.1321T>A
n.2229T>A
c.1199T>A (p.Val400Glu)
c.1295T>A (p.Val432Glu)
c.2345T>A (p.Val782Glu)
c.1685T>A (p.Val562Glu)
c.2381T>A (p.Val794Glu)
c.2378T>A (p.Val793Glu)
c.2255T>A (p.Val752Glu)
c.2138T>A (p.Val713Glu)
c.1058T>A (p.Val353Glu)
n.3285T>A
n.3183T>A
n.2596T>A
n.2494T>A
 ClinVar dbSNP gnomAD v4
9g.114403967C>ACA374619711WHRNc.691G>T (p.Val231Leu)
c.2347G>T (p.Val783Leu)
c.1320G>T
n.2228G>T
c.1198G>T (p.Val400Leu)
c.1294G>T (p.Val432Leu)
c.2344G>T (p.Val782Leu)
c.1684G>T (p.Val562Leu)
c.2380G>T (p.Val794Leu)
c.2377G>T (p.Val793Leu)
c.2254G>T (p.Val752Leu)
c.2137G>T (p.Val713Leu)
c.1057G>T (p.Val353Leu)
n.3284G>T
n.3182G>T
n.2595G>T
n.2493G>T
9g.114403967C>GCA374619712WHRNc.691G>C (p.Val231Leu)
c.2347G>C (p.Val783Leu)
c.1320G>C
n.2228G>C
c.1198G>C (p.Val400Leu)
c.1294G>C (p.Val432Leu)
c.2344G>C (p.Val782Leu)
c.1684G>C (p.Val562Leu)
c.2380G>C (p.Val794Leu)
c.2377G>C (p.Val793Leu)
c.2254G>C (p.Val752Leu)
c.2137G>C (p.Val713Leu)
c.1057G>C (p.Val353Leu)
n.3284G>C
n.3182G>C
n.2595G>C
n.2493G>C
9g.114403967C>TCA374619714WHRNc.691G>A (p.Val231Met)
c.2347G>A (p.Val783Met)
c.1320G>A
n.2228G>A
c.1198G>A (p.Val400Met)
c.1294G>A (p.Val432Met)
c.2344G>A (p.Val782Met)
c.1684G>A (p.Val562Met)
c.2380G>A (p.Val794Met)
c.2377G>A (p.Val793Met)
c.2254G>A (p.Val752Met)
c.2137G>A (p.Val713Met)
c.1057G>A (p.Val353Met)
n.3284G>A
n.3182G>A
n.2595G>A
n.2493G>A
9g.114403968C>ACA5205663WHRNc.690G>T (p.Ser230=)
c.2346G>T (p.Ser782=)
c.1319G>T
n.2227G>T
c.1197G>T (p.Ser399=)
c.1293G>T (p.Ser431=)
c.2343G>T (p.Ser781=)
c.1683G>T (p.Ser561=)
c.2379G>T (p.Ser793=)
c.2376G>T (p.Ser792=)
c.2253G>T (p.Ser751=)
c.2136G>T (p.Ser712=)
c.1056G>T (p.Ser352=)
n.3283G>T
n.3181G>T
n.2594G>T
n.2492G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114403968C=CA1873825877WHRNc.690G= (p.Ser230=)
c.2346G= (p.Ser782=)
c.1319G=
n.2227G=
c.1197G= (p.Ser399=)
c.1293G= (p.Ser431=)
c.2343G= (p.Ser781=)
c.1683G= (p.Ser561=)
c.2379G= (p.Ser793=)
c.2376G= (p.Ser792=)
c.2253G= (p.Ser751=)
c.2136G= (p.Ser712=)
c.1056G= (p.Ser352=)
n.3283G=
n.3181G=
n.2594G=
n.2492G=
9g.114403968C>GCA466781933WHRNc.690G>C (p.Ser230=)
c.2346G>C (p.Ser782=)
c.1319G>C
n.2227G>C
c.1197G>C (p.Ser399=)
c.1293G>C (p.Ser431=)
c.2343G>C (p.Ser781=)
c.1683G>C (p.Ser561=)
c.2379G>C (p.Ser793=)
c.2376G>C (p.Ser792=)
c.2253G>C (p.Ser751=)
c.2136G>C (p.Ser712=)
c.1056G>C (p.Ser352=)
n.3283G>C
n.3181G>C
n.2594G>C
n.2492G>C
9g.114403968C>TCA5205662WHRNc.690G>A (p.Ser230=)
c.2346G>A (p.Ser782=)
c.1319G>A
n.2227G>A
c.1197G>A (p.Ser399=)
c.1293G>A (p.Ser431=)
c.2343G>A (p.Ser781=)
c.1683G>A (p.Ser561=)
c.2379G>A (p.Ser793=)
c.2376G>A (p.Ser792=)
c.2253G>A (p.Ser751=)
c.2136G>A (p.Ser712=)
c.1056G>A (p.Ser352=)
n.3283G>A
n.3181G>A
n.2594G>A
n.2492G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114403969G>ACA5205664WHRNc.689C>T (p.Ser230Leu)
c.2345C>T (p.Ser782Leu)
c.1318C>T
n.2226C>T
c.1196C>T (p.Ser399Leu)
c.1292C>T (p.Ser431Leu)
c.2342C>T (p.Ser781Leu)
c.1682C>T (p.Ser561Leu)
c.2378C>T (p.Ser793Leu)
c.2375C>T (p.Ser792Leu)
c.2252C>T (p.Ser751Leu)
c.2135C>T (p.Ser712Leu)
c.1055C>T (p.Ser352Leu)
n.3282C>T
n.3180C>T
n.2593C>T
n.2491C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114403969G>CCA374619718WHRNc.689C>G (p.Ser230Trp)
c.2345C>G (p.Ser782Trp)
c.1318C>G
n.2226C>G
c.1196C>G (p.Ser399Trp)
c.1292C>G (p.Ser431Trp)
c.2342C>G (p.Ser781Trp)
c.1682C>G (p.Ser561Trp)
c.2378C>G (p.Ser793Trp)
c.2375C>G (p.Ser792Trp)
c.2252C>G (p.Ser751Trp)
c.2135C>G (p.Ser712Trp)
c.1055C>G (p.Ser352Trp)
n.3282C>G
n.3180C>G
n.2593C>G
n.2491C>G
9g.114403969G=CA1873825878WHRNc.689C= (p.Ser230=)
c.2345C= (p.Ser782=)
c.1318C=
n.2226C=
c.1196C= (p.Ser399=)
c.1292C= (p.Ser431=)
c.2342C= (p.Ser781=)
c.1682C= (p.Ser561=)
c.2378C= (p.Ser793=)
c.2375C= (p.Ser792=)
c.2252C= (p.Ser751=)
c.2135C= (p.Ser712=)
c.1055C= (p.Ser352=)
n.3282C=
n.3180C=
n.2593C=
n.2491C=
9g.114403969G>TCA374619716WHRNc.689C>A (p.Ser230Ter)
c.2345C>A (p.Ser782Ter)
c.1318C>A
n.2226C>A
c.1196C>A (p.Ser399Ter)
c.1292C>A (p.Ser431Ter)
c.2342C>A (p.Ser781Ter)
c.1682C>A (p.Ser561Ter)
c.2378C>A (p.Ser793Ter)
c.2375C>A (p.Ser792Ter)
c.2252C>A (p.Ser751Ter)
c.2135C>A (p.Ser712Ter)
c.1055C>A (p.Ser352Ter)
n.3282C>A
n.3180C>A
n.2593C>A
n.2491C>A
 ClinVar dbSNP gnomAD v4
9g.114403969_114403970insTCA590500546WHRNc.688_689insA (p.Ser230TyrfsTer9)
c.2344_2345insA (p.Ser782TyrfsTer9)
c.1317_1318insA
n.2225_2226insA
c.1195_1196insA (p.Ser399TyrfsTer9)
c.1291_1292insA (p.Ser431TyrfsTer9)
c.2341_2342insA (p.Ser781TyrfsTer9)
c.1681_1682insA (p.Ser561TyrfsTer9)
c.2377_2378insA (p.Ser793TyrfsTer9)
c.2374_2375insA (p.Ser792TyrfsTer9)
c.2251_2252insA (p.Ser751TyrfsTer9)
c.2134_2135insA (p.Ser712TyrfsTer9)
c.1054_1055insA (p.Ser352TyrfsTer9)
n.3281_3282insA
n.3179_3180insA
n.2592_2593insA
n.2490_2491insA
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114403969_114403970insTATCCA1128339757WHRNc.688_689insGATA (p.Ser230Ter)
c.2344_2345insGATA (p.Ser782Ter)
c.1317_1318insGATA
n.2225_2226insGATA
c.1195_1196insGATA (p.Ser399Ter)
c.1291_1292insGATA (p.Ser431Ter)
c.2341_2342insGATA (p.Ser781Ter)
c.1681_1682insGATA (p.Ser561Ter)
c.2377_2378insGATA (p.Ser793Ter)
c.2374_2375insGATA (p.Ser792Ter)
c.2251_2252insGATA (p.Ser751Ter)
c.2134_2135insGATA (p.Ser712Ter)
c.1054_1055insGATA (p.Ser352Ter)
n.3281_3282insGATA
n.3179_3180insGATA
n.2592_2593insGATA
n.2490_2491insGATA
 gnomAD v3 gnomAD v4
9g.114403969_114403970insTATCATTCA1128339763WHRNc.688_689insAATGATA (p.Ser230Ter)
c.2344_2345insAATGATA (p.Ser782Ter)
c.1317_1318insAATGATA
n.2225_2226insAATGATA
c.1195_1196insAATGATA (p.Ser399Ter)
c.1291_1292insAATGATA (p.Ser431Ter)
c.2341_2342insAATGATA (p.Ser781Ter)
c.1681_1682insAATGATA (p.Ser561Ter)
c.2377_2378insAATGATA (p.Ser793Ter)
c.2374_2375insAATGATA (p.Ser792Ter)
c.2251_2252insAATGATA (p.Ser751Ter)
c.2134_2135insAATGATA (p.Ser712Ter)
c.1054_1055insAATGATA (p.Ser352Ter)
n.3281_3282insAATGATA
n.3179_3180insAATGATA
n.2592_2593insAATGATA
n.2490_2491insAATGATA
 gnomAD v3 gnomAD v4
9g.114403969_114403970insTATCATTACA1128339766WHRNc.688_689insTAATGATA (p.Ser230LeufsTer?)
c.2344_2345insTAATGATA (p.Ser782LeufsTer?)
c.1317_1318insTAATGATA
n.2225_2226insTAATGATA
c.1195_1196insTAATGATA (p.Ser399LeufsTer?)
c.1291_1292insTAATGATA (p.Ser431LeufsTer?)
c.2341_2342insTAATGATA (p.Ser781LeufsTer?)
c.1681_1682insTAATGATA (p.Ser561LeufsTer?)
c.2377_2378insTAATGATA (p.Ser793LeufsTer?)
c.2374_2375insTAATGATA (p.Ser792LeufsTer?)
c.2251_2252insTAATGATA (p.Ser751LeufsTer?)
c.2134_2135insTAATGATA (p.Ser712LeufsTer?)
c.1054_1055insTAATGATA (p.Ser352LeufsTer?)
n.3281_3282insTAATGATA
n.3179_3180insTAATGATA
n.2592_2593insTAATGATA
n.2490_2491insTAATGATA
 gnomAD v3 gnomAD v4
9g.114403969_114403970insTATCATTAAAAACA1128339767WHRNc.688_689insTTTTTAATGATA (p.Ser230delinsPhePheAsnAspThr)
c.2344_2345insTTTTTAATGATA (p.Ser782delinsPhePheAsnAspThr)
c.1317_1318insTTTTTAATGATA
n.2225_2226insTTTTTAATGATA
c.1195_1196insTTTTTAATGATA (p.Ser399delinsPhePheAsnAspThr)
c.1291_1292insTTTTTAATGATA (p.Ser431delinsPhePheAsnAspThr)
c.2341_2342insTTTTTAATGATA (p.Ser781delinsPhePheAsnAspThr)
c.1681_1682insTTTTTAATGATA (p.Ser561delinsPhePheAsnAspThr)
c.2377_2378insTTTTTAATGATA (p.Ser793delinsPhePheAsnAspThr)
c.2374_2375insTTTTTAATGATA (p.Ser792delinsPhePheAsnAspThr)
c.2251_2252insTTTTTAATGATA (p.Ser751delinsPhePheAsnAspThr)
c.2134_2135insTTTTTAATGATA (p.Ser712delinsPhePheAsnAspThr)
c.1054_1055insTTTTTAATGATA (p.Ser352delinsPhePheAsnAspThr)
n.3281_3282insTTTTTAATGATA
n.3179_3180insTTTTTAATGATA
n.2592_2593insTTTTTAATGATA
n.2490_2491insTTTTTAATGATA
 gnomAD v3 gnomAD v4
9g.114403970A>CCA374619721WHRNc.688T>G (p.Ser230Ala)
c.2344T>G (p.Ser782Ala)
c.1317T>G
n.2225T>G
c.1195T>G (p.Ser399Ala)
c.1291T>G (p.Ser431Ala)
c.2341T>G (p.Ser781Ala)
c.1681T>G (p.Ser561Ala)
c.2377T>G (p.Ser793Ala)
c.2374T>G (p.Ser792Ala)
c.2251T>G (p.Ser751Ala)
c.2134T>G (p.Ser712Ala)
c.1054T>G (p.Ser352Ala)
n.3281T>G
n.3179T>G
n.2592T>G
n.2490T>G
9g.114403970A>GCA374619720WHRNc.688T>C (p.Ser230Pro)
c.2344T>C (p.Ser782Pro)
c.1317T>C
n.2225T>C
c.1195T>C (p.Ser399Pro)
c.1291T>C (p.Ser431Pro)
c.2341T>C (p.Ser781Pro)
c.1681T>C (p.Ser561Pro)
c.2377T>C (p.Ser793Pro)
c.2374T>C (p.Ser792Pro)
c.2251T>C (p.Ser751Pro)
c.2134T>C (p.Ser712Pro)
c.1054T>C (p.Ser352Pro)
n.3281T>C
n.3179T>C
n.2592T>C
n.2490T>C
9g.114403970A>TCA374619723WHRNc.688T>A (p.Ser230Thr)
c.2344T>A (p.Ser782Thr)
c.1317T>A
n.2225T>A
c.1195T>A (p.Ser399Thr)
c.1291T>A (p.Ser431Thr)
c.2341T>A (p.Ser781Thr)
c.1681T>A (p.Ser561Thr)
c.2377T>A (p.Ser793Thr)
c.2374T>A (p.Ser792Thr)
c.2251T>A (p.Ser751Thr)
c.2134T>A (p.Ser712Thr)
c.1054T>A (p.Ser352Thr)
n.3281T>A
n.3179T>A
n.2592T>A
n.2490T>A
 gnomAD v2 gnomAD v3 gnomAD v4
9g.114403970_114403971delCA2785655845WHRNc.687_688del (p.Gln229HisfsTer9)
c.2343_2344del (p.Gln781HisfsTer9)
c.1316_1317del
n.2224_2225del
c.1194_1195del (p.Gln398HisfsTer9)
c.1290_1291del (p.Gln430HisfsTer9)
c.2340_2341del (p.Gln780HisfsTer9)
c.1680_1681del (p.Gln560HisfsTer9)
c.2376_2377del (p.Gln792HisfsTer9)
c.2373_2374del (p.Gln791HisfsTer9)
c.2250_2251del (p.Gln750HisfsTer9)
c.2133_2134del (p.Gln711HisfsTer9)
c.1053_1054del (p.Gln351HisfsTer9)
n.3280_3281del
n.3178_3179del
n.2591_2592del
n.2489_2490del
9g.114403970_114403975delCA1128339768WHRNc.683_688del (p.Arg228_Ser230delinsThr)
c.2339_2344del (p.Arg780_Ser782delinsThr)
c.1312_1317del
n.2220_2225del
c.1190_1195del (p.Arg397_Ser399delinsThr)
c.1286_1291del (p.Arg429_Ser431delinsThr)
c.2336_2341del (p.Arg779_Ser781delinsThr)
c.1676_1681del (p.Arg559_Ser561delinsThr)
c.2372_2377del (p.Arg791_Ser793delinsThr)
c.2369_2374del (p.Arg790_Ser792delinsThr)
c.2246_2251del (p.Arg749_Ser751delinsThr)
c.2129_2134del (p.Arg710_Ser712delinsThr)
c.1049_1054del (p.Arg350_Ser352delinsThr)
n.3276_3281del
n.3174_3179del
n.2587_2592del
n.2485_2490del
 gnomAD v3 gnomAD v4
9g.114403970_114403979delinsACTGCCTTCCCA1873825879WHRNc.679_688delinsGGAAGGCAGT (p.Gly227=)
c.2335_2344delinsGGAAGGCAGT (p.Gly779=)
c.1308_1317delinsGGAAGGCAGT
n.2216_2225delinsGGAAGGCAGT
c.1186_1195delinsGGAAGGCAGT (p.Gly396=)
c.1282_1291delinsGGAAGGCAGT (p.Gly428=)
c.2332_2341delinsGGAAGGCAGT (p.Gly778=)
c.1672_1681delinsGGAAGGCAGT (p.Gly558=)
c.2368_2377delinsGGAAGGCAGT (p.Gly790=)
c.2365_2374delinsGGAAGGCAGT (p.Gly789=)
c.2242_2251delinsGGAAGGCAGT (p.Gly748=)
c.2125_2134delinsGGAAGGCAGT (p.Gly709=)
c.1045_1054delinsGGAAGGCAGT (p.Gly349=)
n.3272_3281delinsGGAAGGCAGT
n.3170_3179delinsGGAAGGCAGT
n.2583_2592delinsGGAAGGCAGT
n.2481_2490delinsGGAAGGCAGT
9g.114403971C>ACA374619724WHRNc.687G>T (p.Gln229His)
c.2343G>T (p.Gln781His)
c.1316G>T
n.2224G>T
c.1194G>T (p.Gln398His)
c.1290G>T (p.Gln430His)
c.2340G>T (p.Gln780His)
c.1680G>T (p.Gln560His)
c.2376G>T (p.Gln792His)
c.2373G>T (p.Gln791His)
c.2250G>T (p.Gln750His)
c.2133G>T (p.Gln711His)
c.1053G>T (p.Gln351His)
n.3280G>T
n.3178G>T
n.2591G>T
n.2489G>T
 gnomAD v3 gnomAD v4
9g.114403971C=CA1873825880WHRNc.687G= (p.Gln229=)
c.2343G= (p.Gln781=)
c.1316G=
n.2224G=
c.1194G= (p.Gln398=)
c.1290G= (p.Gln430=)
c.2340G= (p.Gln780=)
c.1680G= (p.Gln560=)
c.2376G= (p.Gln792=)
c.2373G= (p.Gln791=)
c.2250G= (p.Gln750=)
c.2133G= (p.Gln711=)
c.1053G= (p.Gln351=)
n.3280G=
n.3178G=
n.2591G=
n.2489G=
9g.114403971C>GCA374619725WHRNc.687G>C (p.Gln229His)
c.2343G>C (p.Gln781His)
c.1316G>C
n.2224G>C
c.1194G>C (p.Gln398His)
c.1290G>C (p.Gln430His)
c.2340G>C (p.Gln780His)
c.1680G>C (p.Gln560His)
c.2376G>C (p.Gln792His)
c.2373G>C (p.Gln791His)
c.2250G>C (p.Gln750His)
c.2133G>C (p.Gln711His)
c.1053G>C (p.Gln351His)
n.3280G>C
n.3178G>C
n.2591G>C
n.2489G>C
9g.114403971C>TCA466781936WHRNc.687G>A (p.Gln229=)
c.2343G>A (p.Gln781=)
c.1316G>A
n.2224G>A
c.1194G>A (p.Gln398=)
c.1290G>A (p.Gln430=)
c.2340G>A (p.Gln780=)
c.1680G>A (p.Gln560=)
c.2376G>A (p.Gln792=)
c.2373G>A (p.Gln791=)
c.2250G>A (p.Gln750=)
c.2133G>A (p.Gln711=)
c.1053G>A (p.Gln351=)
n.3280G>A
n.3178G>A
n.2591G>A
n.2489G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114403971_114403979delCA590500547WHRNc.679_687del (p.Gly227_Gln229del)
c.2335_2343del (p.Gly779_Gln781del)
c.1308_1316del
n.2216_2224del
c.1186_1194del (p.Gly396_Gln398del)
c.1282_1290del (p.Gly428_Gln430del)
c.2332_2340del (p.Gly778_Gln780del)
c.1672_1680del (p.Gly558_Gln560del)
c.2368_2376del (p.Gly790_Gln792del)
c.2365_2373del (p.Gly789_Gln791del)
c.2242_2250del (p.Gly748_Gln750del)
c.2125_2133del (p.Gly709_Gln711del)
c.1045_1053del (p.Gly349_Gln351del)
n.3272_3280del
n.3170_3178del
n.2583_2591del
n.2481_2489del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114403972T>ACA374619727WHRNc.686A>T (p.Gln229Leu)
c.2342A>T (p.Gln781Leu)
c.1315A>T
n.2223A>T
c.1193A>T (p.Gln398Leu)
c.1289A>T (p.Gln430Leu)
c.2339A>T (p.Gln780Leu)
c.1679A>T (p.Gln560Leu)
c.2375A>T (p.Gln792Leu)
c.2372A>T (p.Gln791Leu)
c.2249A>T (p.Gln750Leu)
c.2132A>T (p.Gln711Leu)
c.1052A>T (p.Gln351Leu)
n.3279A>T
n.3177A>T
n.2590A>T
n.2488A>T
9g.114403972T>CCA374619728WHRNc.686A>G (p.Gln229Arg)
c.2342A>G (p.Gln781Arg)
c.1315A>G
n.2223A>G
c.1193A>G (p.Gln398Arg)
c.1289A>G (p.Gln430Arg)
c.2339A>G (p.Gln780Arg)
c.1679A>G (p.Gln560Arg)
c.2375A>G (p.Gln792Arg)
c.2372A>G (p.Gln791Arg)
c.2249A>G (p.Gln750Arg)
c.2132A>G (p.Gln711Arg)
c.1052A>G (p.Gln351Arg)
n.3279A>G
n.3177A>G
n.2590A>G
n.2488A>G
9g.114403972T>GCA374619729WHRNc.686A>C (p.Gln229Pro)
c.2342A>C (p.Gln781Pro)
c.1315A>C
n.2223A>C
c.1193A>C (p.Gln398Pro)
c.1289A>C (p.Gln430Pro)
c.2339A>C (p.Gln780Pro)
c.1679A>C (p.Gln560Pro)
c.2375A>C (p.Gln792Pro)
c.2372A>C (p.Gln791Pro)
c.2249A>C (p.Gln750Pro)
c.2132A>C (p.Gln711Pro)
c.1052A>C (p.Gln351Pro)
n.3279A>C
n.3177A>C
n.2590A>C
n.2488A>C
9g.114403973_114403977delCA1128339778WHRNc.682_686del (p.Arg228ValfsTer9)
c.2338_2342del (p.Arg780ValfsTer9)
c.1311_1315del
n.2219_2223del
c.1189_1193del (p.Arg397ValfsTer9)
c.1285_1289del (p.Arg429ValfsTer9)
c.2335_2339del (p.Arg779ValfsTer9)
c.1675_1679del (p.Arg559ValfsTer9)
c.2371_2375del (p.Arg791ValfsTer9)
c.2368_2372del (p.Arg790ValfsTer9)
c.2245_2249del (p.Arg749ValfsTer9)
c.2128_2132del (p.Arg710ValfsTer9)
c.1048_1052del (p.Arg350ValfsTer9)
n.3275_3279del
n.3173_3177del
n.2586_2590del
n.2484_2488del
 gnomAD v3 gnomAD v4
9g.114403973delCA1128339784WHRNc.685del (p.Gln229SerfsTer?)
c.2341del (p.Gln781SerfsTer?)
c.1314del
n.2222del
c.1192del (p.Gln398SerfsTer?)
c.1288del (p.Gln430SerfsTer?)
c.2338del (p.Gln780SerfsTer?)
c.1678del (p.Gln560SerfsTer?)
c.2374del (p.Gln792SerfsTer?)
c.2371del (p.Gln791SerfsTer?)
c.2248del (p.Gln750SerfsTer?)
c.2131del (p.Gln711SerfsTer?)
c.1051del (p.Gln351SerfsTer?)
n.3278del
n.3176del
n.2589del
n.2487del
 gnomAD v3 gnomAD v4
9g.114403973G>ACA374619730WHRNc.685C>T (p.Gln229Ter)
c.2341C>T (p.Gln781Ter)
c.1314C>T
n.2222C>T
c.1192C>T (p.Gln398Ter)
c.1288C>T (p.Gln430Ter)
c.2338C>T (p.Gln780Ter)
c.1678C>T (p.Gln560Ter)
c.2374C>T (p.Gln792Ter)
c.2371C>T (p.Gln791Ter)
c.2248C>T (p.Gln750Ter)
c.2131C>T (p.Gln711Ter)
c.1051C>T (p.Gln351Ter)
n.3278C>T
n.3176C>T
n.2589C>T
n.2487C>T
 dbSNP gnomAD v3 gnomAD v4
9g.114403973G>CCA374619731WHRNc.685C>G (p.Gln229Glu)
c.2341C>G (p.Gln781Glu)
c.1314C>G
n.2222C>G
c.1192C>G (p.Gln398Glu)
c.1288C>G (p.Gln430Glu)
c.2338C>G (p.Gln780Glu)
c.1678C>G (p.Gln560Glu)
c.2374C>G (p.Gln792Glu)
c.2371C>G (p.Gln791Glu)
c.2248C>G (p.Gln750Glu)
c.2131C>G (p.Gln711Glu)
c.1051C>G (p.Gln351Glu)
n.3278C>G
n.3176C>G
n.2589C>G
n.2487C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.114403973G=CA1873825881WHRNc.685C= (p.Gln229=)
c.2341C= (p.Gln781=)
c.1314C=
n.2222C=
c.1192C= (p.Gln398=)
c.1288C= (p.Gln430=)
c.2338C= (p.Gln780=)
c.1678C= (p.Gln560=)
c.2374C= (p.Gln792=)
c.2371C= (p.Gln791=)
c.2248C= (p.Gln750=)
c.2131C= (p.Gln711=)
c.1051C= (p.Gln351=)
n.3278C=
n.3176C=
n.2589C=
n.2487C=
9g.114403973G>TCA374619733WHRNc.685C>A (p.Gln229Lys)
c.2341C>A (p.Gln781Lys)
c.1314C>A
n.2222C>A
c.1192C>A (p.Gln398Lys)
c.1288C>A (p.Gln430Lys)
c.2338C>A (p.Gln780Lys)
c.1678C>A (p.Gln560Lys)
c.2374C>A (p.Gln792Lys)
c.2371C>A (p.Gln791Lys)
c.2248C>A (p.Gln750Lys)
c.2131C>A (p.Gln711Lys)
c.1051C>A (p.Gln351Lys)
n.3278C>A
n.3176C>A
n.2589C>A
n.2487C>A
 gnomAD v4
9g.114403973_114403978delCA2785655846WHRNc.680_685del (p.Gly227_Gln229delinsGlu)
c.2336_2341del (p.Gly779_Gln781delinsGlu)
c.1309_1314del
n.2217_2222del
c.1187_1192del (p.Gly396_Gln398delinsGlu)
c.1283_1288del (p.Gly428_Gln430delinsGlu)
c.2333_2338del (p.Gly778_Gln780delinsGlu)
c.1673_1678del (p.Gly558_Gln560delinsGlu)
c.2369_2374del (p.Gly790_Gln792delinsGlu)
c.2366_2371del (p.Gly789_Gln791delinsGlu)
c.2243_2248del (p.Gly748_Gln750delinsGlu)
c.2126_2131del (p.Gly709_Gln711delinsGlu)
c.1046_1051del (p.Gly349_Gln351delinsGlu)
n.3273_3278del
n.3171_3176del
n.2584_2589del
n.2482_2487del
9g.114403974C>ACA198649136WHRNc.684G>T (p.Arg228Ser)
c.2340G>T (p.Arg780Ser)
c.1313G>T
n.2221G>T
c.1191G>T (p.Arg397Ser)
c.1287G>T (p.Arg429Ser)
c.2337G>T (p.Arg779Ser)
c.1677G>T (p.Arg559Ser)
c.2373G>T (p.Arg791Ser)
c.2370G>T (p.Arg790Ser)
c.2247G>T (p.Arg749Ser)
c.2130G>T (p.Arg710Ser)
c.1050G>T (p.Arg350Ser)
n.3277G>T
n.3175G>T
n.2588G>T
n.2486G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114403974C=CA1873825882WHRNc.684G= (p.Arg228=)
c.2340G= (p.Arg780=)
c.1313G=
n.2221G=
c.1191G= (p.Arg397=)
c.1287G= (p.Arg429=)
c.2337G= (p.Arg779=)
c.1677G= (p.Arg559=)
c.2373G= (p.Arg791=)
c.2370G= (p.Arg790=)
c.2247G= (p.Arg749=)
c.2130G= (p.Arg710=)
c.1050G= (p.Arg350=)
n.3277G=
n.3175G=
n.2588G=
n.2486G=
9g.114403974C>GCA374619736WHRNc.684G>C (p.Arg228Ser)
c.2340G>C (p.Arg780Ser)
c.1313G>C
n.2221G>C
c.1191G>C (p.Arg397Ser)
c.1287G>C (p.Arg429Ser)
c.2337G>C (p.Arg779Ser)
c.1677G>C (p.Arg559Ser)
c.2373G>C (p.Arg791Ser)
c.2370G>C (p.Arg790Ser)
c.2247G>C (p.Arg749Ser)
c.2130G>C (p.Arg710Ser)
c.1050G>C (p.Arg350Ser)
n.3277G>C
n.3175G>C
n.2588G>C
n.2486G>C
9g.114403974C>TCA466781938WHRNc.684G>A (p.Arg228=)
c.2340G>A (p.Arg780=)
c.1313G>A
n.2221G>A
c.1191G>A (p.Arg397=)
c.1287G>A (p.Arg429=)
c.2337G>A (p.Arg779=)
c.1677G>A (p.Arg559=)
c.2373G>A (p.Arg791=)
c.2370G>A (p.Arg790=)
c.2247G>A (p.Arg749=)
c.2130G>A (p.Arg710=)
c.1050G>A (p.Arg350=)
n.3277G>A
n.3175G>A
n.2588G>A
n.2486G>A
 dbSNP gnomAD v2 gnomAD v4
9g.114403975C>ACA374619737WHRNc.683G>T (p.Arg228Met)
c.2339G>T (p.Arg780Met)
c.1312G>T
n.2220G>T
c.1190G>T (p.Arg397Met)
c.1286G>T (p.Arg429Met)
c.2336G>T (p.Arg779Met)
c.1676G>T (p.Arg559Met)
c.2372G>T (p.Arg791Met)
c.2369G>T (p.Arg790Met)
c.2246G>T (p.Arg749Met)
c.2129G>T (p.Arg710Met)
c.1049G>T (p.Arg350Met)
n.3276G>T
n.3174G>T
n.2587G>T
n.2485G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114403975C=CA1873825883WHRNc.683G= (p.Arg228=)
c.2339G= (p.Arg780=)
c.1312G=
n.2220G=
c.1190G= (p.Arg397=)
c.1286G= (p.Arg429=)
c.2336G= (p.Arg779=)
c.1676G= (p.Arg559=)
c.2372G= (p.Arg791=)
c.2369G= (p.Arg790=)
c.2246G= (p.Arg749=)
c.2129G= (p.Arg710=)
c.1049G= (p.Arg350=)
n.3276G=
n.3174G=
n.2587G=
n.2485G=
9g.114403975C>GCA5205666WHRNc.683G>C (p.Arg228Thr)
c.2339G>C (p.Arg780Thr)
c.1312G>C
n.2220G>C
c.1190G>C (p.Arg397Thr)
c.1286G>C (p.Arg429Thr)
c.2336G>C (p.Arg779Thr)
c.1676G>C (p.Arg559Thr)
c.2372G>C (p.Arg791Thr)
c.2369G>C (p.Arg790Thr)
c.2246G>C (p.Arg749Thr)
c.2129G>C (p.Arg710Thr)
c.1049G>C (p.Arg350Thr)
n.3276G>C
n.3174G>C
n.2587G>C
n.2485G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114403975C>TCA5205665WHRNc.683G>A (p.Arg228Lys)
c.2339G>A (p.Arg780Lys)
c.1312G>A
n.2220G>A
c.1190G>A (p.Arg397Lys)
c.1286G>A (p.Arg429Lys)
c.2336G>A (p.Arg779Lys)
c.1676G>A (p.Arg559Lys)
c.2372G>A (p.Arg791Lys)
c.2369G>A (p.Arg790Lys)
c.2246G>A (p.Arg749Lys)
c.2129G>A (p.Arg710Lys)
c.1049G>A (p.Arg350Lys)
n.3276G>A
n.3174G>A
n.2587G>A
n.2485G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114403976T>ACA374619740WHRNc.682A>T (p.Arg228Trp)
c.2338A>T (p.Arg780Trp)
c.1311A>T
n.2219A>T
c.1189A>T (p.Arg397Trp)
c.1285A>T (p.Arg429Trp)
c.2335A>T (p.Arg779Trp)
c.1675A>T (p.Arg559Trp)
c.2371A>T (p.Arg791Trp)
c.2368A>T (p.Arg790Trp)
c.2245A>T (p.Arg749Trp)
c.2128A>T (p.Arg710Trp)
c.1048A>T (p.Arg350Trp)
n.3275A>T
n.3173A>T
n.2586A>T
n.2484A>T
9g.114403976T>CCA374619741WHRNc.682A>G (p.Arg228Gly)
c.2338A>G (p.Arg780Gly)
c.1311A>G
n.2219A>G
c.1189A>G (p.Arg397Gly)
c.1285A>G (p.Arg429Gly)
c.2335A>G (p.Arg779Gly)
c.1675A>G (p.Arg559Gly)
c.2371A>G (p.Arg791Gly)
c.2368A>G (p.Arg790Gly)
c.2245A>G (p.Arg749Gly)
c.2128A>G (p.Arg710Gly)
c.1048A>G (p.Arg350Gly)
n.3275A>G
n.3173A>G
n.2586A>G
n.2484A>G
9g.114403976T>GCA466781939WHRNc.682A>C (p.Arg228=)
c.2338A>C (p.Arg780=)
c.1311A>C
n.2219A>C
c.1189A>C (p.Arg397=)
c.1285A>C (p.Arg429=)
c.2335A>C (p.Arg779=)
c.1675A>C (p.Arg559=)
c.2371A>C (p.Arg791=)
c.2368A>C (p.Arg790=)
c.2245A>C (p.Arg749=)
c.2128A>C (p.Arg710=)
c.1048A>C (p.Arg350=)
n.3275A>C
n.3173A>C
n.2586A>C
n.2484A>C
 dbSNP gnomAD v2 gnomAD v4
9g.114403976T=CA1873825884WHRNc.682A= (p.Arg228=)
c.2338A= (p.Arg780=)
c.1311A=
n.2219A=
c.1189A= (p.Arg397=)
c.1285A= (p.Arg429=)
c.2335A= (p.Arg779=)
c.1675A= (p.Arg559=)
c.2371A= (p.Arg791=)
c.2368A= (p.Arg790=)
c.2245A= (p.Arg749=)
c.2128A= (p.Arg710=)
c.1048A= (p.Arg350=)
n.3275A=
n.3173A=
n.2586A=
n.2484A=
9g.114403976_114403977insACA1128339791WHRNc.681_682insT (p.Arg228Ter)
c.2337_2338insT (p.Arg780Ter)
c.1310_1311insT
n.2218_2219insT
c.1188_1189insT (p.Arg397Ter)
c.1284_1285insT (p.Arg429Ter)
c.2334_2335insT (p.Arg779Ter)
c.1674_1675insT (p.Arg559Ter)
c.2370_2371insT (p.Arg791Ter)
c.2367_2368insT (p.Arg790Ter)
c.2244_2245insT (p.Arg749Ter)
c.2127_2128insT (p.Arg710Ter)
c.1047_1048insT (p.Arg350Ter)
n.3274_3275insT
n.3172_3173insT
n.2585_2586insT
n.2483_2484insT
 gnomAD v3 gnomAD v4
9g.114403977T>ACA466781940WHRNc.681A>T (p.Gly227=)
c.2337A>T (p.Gly779=)
c.1310A>T
n.2218A>T
c.1188A>T (p.Gly396=)
c.1284A>T (p.Gly428=)
c.2334A>T (p.Gly778=)
c.1674A>T (p.Gly558=)
c.2370A>T (p.Gly790=)
c.2367A>T (p.Gly789=)
c.2244A>T (p.Gly748=)
c.2127A>T (p.Gly709=)
c.1047A>T (p.Gly349=)
n.3274A>T
n.3172A>T
n.2585A>T
n.2483A>T
9g.114403977T>CCA466781941WHRNc.681A>G (p.Gly227=)
c.2337A>G (p.Gly779=)
c.1310A>G
n.2218A>G
c.1188A>G (p.Gly396=)
c.1284A>G (p.Gly428=)
c.2334A>G (p.Gly778=)
c.1674A>G (p.Gly558=)
c.2370A>G (p.Gly790=)
c.2367A>G (p.Gly789=)
c.2244A>G (p.Gly748=)
c.2127A>G (p.Gly709=)
c.1047A>G (p.Gly349=)
n.3274A>G
n.3172A>G
n.2585A>G
n.2483A>G
9g.114403977T>GCA466781942WHRNc.681A>C (p.Gly227=)
c.2337A>C (p.Gly779=)
c.1310A>C
n.2218A>C
c.1188A>C (p.Gly396=)
c.1284A>C (p.Gly428=)
c.2334A>C (p.Gly778=)
c.1674A>C (p.Gly558=)
c.2370A>C (p.Gly790=)
c.2367A>C (p.Gly789=)
c.2244A>C (p.Gly748=)
c.2127A>C (p.Gly709=)
c.1047A>C (p.Gly349=)
n.3274A>C
n.3172A>C
n.2585A>C
n.2483A>C
9g.114403978C>ACA374619742WHRNc.680G>T (p.Gly227Val)
c.2336G>T (p.Gly779Val)
c.1309G>T
n.2217G>T
c.1187G>T (p.Gly396Val)
c.1283G>T (p.Gly428Val)
c.2333G>T (p.Gly778Val)
c.1673G>T (p.Gly558Val)
c.2369G>T (p.Gly790Val)
c.2366G>T (p.Gly789Val)
c.2243G>T (p.Gly748Val)
c.2126G>T (p.Gly709Val)
c.1046G>T (p.Gly349Val)
n.3273G>T
n.3171G>T
n.2584G>T
n.2482G>T
 dbSNP gnomAD v3 gnomAD v4
9g.114403978C=CA1873825885WHRNc.680G= (p.Gly227=)
c.2336G= (p.Gly779=)
c.1309G=
n.2217G=
c.1187G= (p.Gly396=)
c.1283G= (p.Gly428=)
c.2333G= (p.Gly778=)
c.1673G= (p.Gly558=)
c.2369G= (p.Gly790=)
c.2366G= (p.Gly789=)
c.2243G= (p.Gly748=)
c.2126G= (p.Gly709=)
c.1046G= (p.Gly349=)
n.3273G=
n.3171G=
n.2584G=
n.2482G=
9g.114403978C>GCA374619743WHRNc.680G>C (p.Gly227Ala)
c.2336G>C (p.Gly779Ala)
c.1309G>C
n.2217G>C
c.1187G>C (p.Gly396Ala)
c.1283G>C (p.Gly428Ala)
c.2333G>C (p.Gly778Ala)
c.1673G>C (p.Gly558Ala)
c.2369G>C (p.Gly790Ala)
c.2366G>C (p.Gly789Ala)
c.2243G>C (p.Gly748Ala)
c.2126G>C (p.Gly709Ala)
c.1046G>C (p.Gly349Ala)
n.3273G>C
n.3171G>C
n.2584G>C
n.2482G>C
9g.114403978C>TCA374619744WHRNc.680G>A (p.Gly227Glu)
c.2336G>A (p.Gly779Glu)
c.1309G>A
n.2217G>A
c.1187G>A (p.Gly396Glu)
c.1283G>A (p.Gly428Glu)
c.2333G>A (p.Gly778Glu)
c.1673G>A (p.Gly558Glu)
c.2369G>A (p.Gly790Glu)
c.2366G>A (p.Gly789Glu)
c.2243G>A (p.Gly748Glu)
c.2126G>A (p.Gly709Glu)
c.1046G>A (p.Gly349Glu)
n.3273G>A
n.3171G>A
n.2584G>A
n.2482G>A
 gnomAD v4
9g.114403978_114403982delCA1128339794WHRNc.676_680del (p.Arg226LysfsTer11)
c.2332_2336del (p.Arg778LysfsTer11)
c.1305_1309del
n.2213_2217del
c.1183_1187del (p.Arg395LysfsTer11)
c.1279_1283del (p.Arg427LysfsTer11)
c.2329_2333del (p.Arg777LysfsTer11)
c.1669_1673del (p.Arg557LysfsTer11)
c.2365_2369del (p.Arg789LysfsTer11)
c.2362_2366del (p.Arg788LysfsTer11)
c.2239_2243del (p.Arg747LysfsTer11)
c.2122_2126del (p.Arg708LysfsTer11)
c.1042_1046del (p.Arg348LysfsTer11)
n.3269_3273del
n.3167_3171del
n.2580_2584del
n.2478_2482del
 gnomAD v3 gnomAD v4
9g.114403978_114403979insATTAACA2602059811WHRNc.679_680insTTAAT (p.Gly227ValfsTer?)
c.2335_2336insTTAAT (p.Gly779ValfsTer?)
c.1308_1309insTTAAT
n.2216_2217insTTAAT
c.1186_1187insTTAAT (p.Gly396ValfsTer?)
c.1282_1283insTTAAT (p.Gly428ValfsTer?)
c.2332_2333insTTAAT (p.Gly778ValfsTer?)
c.1672_1673insTTAAT (p.Gly558ValfsTer?)
c.2368_2369insTTAAT (p.Gly790ValfsTer?)
c.2365_2366insTTAAT (p.Gly789ValfsTer?)
c.2242_2243insTTAAT (p.Gly748ValfsTer?)
c.2125_2126insTTAAT (p.Gly709ValfsTer?)
c.1045_1046insTTAAT (p.Gly349ValfsTer?)
n.3272_3273insTTAAT
n.3170_3171insTTAAT
n.2583_2584insTTAAT
n.2481_2482insTTAAT
 gnomAD v3 gnomAD v4
9g.114403979C>ACA374619746WHRNc.679G>T (p.Gly227Ter)
c.2335G>T (p.Gly779Ter)
c.1308G>T
n.2216G>T
c.1186G>T (p.Gly396Ter)
c.1282G>T (p.Gly428Ter)
c.2332G>T (p.Gly778Ter)
c.1672G>T (p.Gly558Ter)
c.2368G>T (p.Gly790Ter)
c.2365G>T (p.Gly789Ter)
c.2242G>T (p.Gly748Ter)
c.2125G>T (p.Gly709Ter)
c.1045G>T (p.Gly349Ter)
n.3272G>T
n.3170G>T
n.2583G>T
n.2481G>T
 gnomAD v3 gnomAD v4
9g.114403979C=CA1873825886WHRNc.679G= (p.Gly227=)
c.2335G= (p.Gly779=)
c.1308G=
n.2216G=
c.1186G= (p.Gly396=)
c.1282G= (p.Gly428=)
c.2332G= (p.Gly778=)
c.1672G= (p.Gly558=)
c.2368G= (p.Gly790=)
c.2365G= (p.Gly789=)
c.2242G= (p.Gly748=)
c.2125G= (p.Gly709=)
c.1045G= (p.Gly349=)
n.3272G=
n.3170G=
n.2583G=
n.2481G=
9g.114403979C>GCA374619748WHRNc.679G>C (p.Gly227Arg)
c.2335G>C (p.Gly779Arg)
c.1308G>C
n.2216G>C
c.1186G>C (p.Gly396Arg)
c.1282G>C (p.Gly428Arg)
c.2332G>C (p.Gly778Arg)
c.1672G>C (p.Gly558Arg)
c.2368G>C (p.Gly790Arg)
c.2365G>C (p.Gly789Arg)
c.2242G>C (p.Gly748Arg)
c.2125G>C (p.Gly709Arg)
c.1045G>C (p.Gly349Arg)
n.3272G>C
n.3170G>C
n.2583G>C
n.2481G>C
9g.114403979C>TCA374619749WHRNc.679G>A (p.Gly227Arg)
c.2335G>A (p.Gly779Arg)
c.1308G>A
n.2216G>A
c.1186G>A (p.Gly396Arg)
c.1282G>A (p.Gly428Arg)
c.2332G>A (p.Gly778Arg)
c.1672G>A (p.Gly558Arg)
c.2368G>A (p.Gly790Arg)
c.2365G>A (p.Gly789Arg)
c.2242G>A (p.Gly748Arg)
c.2125G>A (p.Gly709Arg)
c.1045G>A (p.Gly349Arg)
n.3272G>A
n.3170G>A
n.2583G>A
n.2481G>A
 dbSNP gnomAD v2 gnomAD v4
9g.114403980T>ACA466781944WHRNc.678A>T (p.Arg226=)
c.2334A>T (p.Arg778=)
c.1307A>T
n.2215A>T
c.1185A>T (p.Arg395=)
c.1281A>T (p.Arg427=)
c.2331A>T (p.Arg777=)
c.1671A>T (p.Arg557=)
c.2367A>T (p.Arg789=)
c.2364A>T (p.Arg788=)
c.2241A>T (p.Arg747=)
c.2124A>T (p.Arg708=)
c.1044A>T (p.Arg348=)
n.3271A>T
n.3169A>T
n.2582A>T
n.2480A>T
9g.114403980T>CCA466781947WHRNc.678A>G (p.Arg226=)
c.2334A>G (p.Arg778=)
c.1307A>G
n.2215A>G
c.1185A>G (p.Arg395=)
c.1281A>G (p.Arg427=)
c.2331A>G (p.Arg777=)
c.1671A>G (p.Arg557=)
c.2367A>G (p.Arg789=)
c.2364A>G (p.Arg788=)
c.2241A>G (p.Arg747=)
c.2124A>G (p.Arg708=)
c.1044A>G (p.Arg348=)
n.3271A>G
n.3169A>G
n.2582A>G
n.2480A>G
9g.114403980T>GCA466781945WHRNc.678A>C (p.Arg226=)
c.2334A>C (p.Arg778=)
c.1307A>C
n.2215A>C
c.1185A>C (p.Arg395=)
c.1281A>C (p.Arg427=)
c.2331A>C (p.Arg777=)
c.1671A>C (p.Arg557=)
c.2367A>C (p.Arg789=)
c.2364A>C (p.Arg788=)
c.2241A>C (p.Arg747=)
c.2124A>C (p.Arg708=)
c.1044A>C (p.Arg348=)
n.3271A>C
n.3169A>C
n.2582A>C
n.2480A>C
9g.114403980_114403981insTAACA1128339801WHRNc.677_678insTTA (p.Arg227Ter)
c.2333_2334insTTA (p.Arg779Ter)
c.1306_1307insTTA
n.2214_2215insTTA
c.1184_1185insTTA (p.Arg396Ter)
c.1280_1281insTTA (p.Arg428Ter)
c.2330_2331insTTA (p.Arg778Ter)
c.1670_1671insTTA (p.Arg558Ter)
c.2366_2367insTTA (p.Arg790Ter)
c.2363_2364insTTA (p.Arg789Ter)
c.2240_2241insTTA (p.Arg748Ter)
c.2123_2124insTTA (p.Arg709Ter)
c.1043_1044insTTA (p.Arg349Ter)
n.3270_3271insTTA
n.3168_3169insTTA
n.2581_2582insTTA
n.2479_2480insTTA
 gnomAD v3 gnomAD v4
9g.114403980_114403981insTAAAACA1128339803WHRNc.677_678insTTTTA (p.Gly227PhefsTer?)
c.2333_2334insTTTTA (p.Gly779PhefsTer?)
c.1306_1307insTTTTA
n.2214_2215insTTTTA
c.1184_1185insTTTTA (p.Gly396PhefsTer?)
c.1280_1281insTTTTA (p.Gly428PhefsTer?)
c.2330_2331insTTTTA (p.Gly778PhefsTer?)
c.1670_1671insTTTTA (p.Gly558PhefsTer?)
c.2366_2367insTTTTA (p.Gly790PhefsTer?)
c.2363_2364insTTTTA (p.Gly789PhefsTer?)
c.2240_2241insTTTTA (p.Gly748PhefsTer?)
c.2123_2124insTTTTA (p.Gly709PhefsTer?)
c.1043_1044insTTTTA (p.Gly349PhefsTer?)
n.3270_3271insTTTTA
n.3168_3169insTTTTA
n.2581_2582insTTTTA
n.2479_2480insTTTTA
 gnomAD v3 gnomAD v4
9g.114403981C>ACA374619750WHRNc.677G>T (p.Arg226Leu)
c.2333G>T (p.Arg778Leu)
c.1306G>T
n.2214G>T
c.1184G>T (p.Arg395Leu)
c.1280G>T (p.Arg427Leu)
c.2330G>T (p.Arg777Leu)
c.1670G>T (p.Arg557Leu)
c.2366G>T (p.Arg789Leu)
c.2363G>T (p.Arg788Leu)
c.2240G>T (p.Arg747Leu)
c.2123G>T (p.Arg708Leu)
c.1043G>T (p.Arg348Leu)
n.3270G>T
n.3168G>T
n.2581G>T
n.2479G>T
9g.114403981C=CA1873825887WHRNc.677G= (p.Arg226=)
c.2333G= (p.Arg778=)
c.1306G=
n.2214G=
c.1184G= (p.Arg395=)
c.1280G= (p.Arg427=)
c.2330G= (p.Arg777=)
c.1670G= (p.Arg557=)
c.2366G= (p.Arg789=)
c.2363G= (p.Arg788=)
c.2240G= (p.Arg747=)
c.2123G= (p.Arg708=)
c.1043G= (p.Arg348=)
n.3270G=
n.3168G=
n.2581G=
n.2479G=
9g.114403981C>GCA374619751WHRNc.677G>C (p.Arg226Pro)
c.2333G>C (p.Arg778Pro)
c.1306G>C
n.2214G>C
c.1184G>C (p.Arg395Pro)
c.1280G>C (p.Arg427Pro)
c.2330G>C (p.Arg777Pro)
c.1670G>C (p.Arg557Pro)
c.2366G>C (p.Arg789Pro)
c.2363G>C (p.Arg788Pro)
c.2240G>C (p.Arg747Pro)
c.2123G>C (p.Arg708Pro)
c.1043G>C (p.Arg348Pro)
n.3270G>C
n.3168G>C
n.2581G>C
n.2479G>C
9g.114403981C>TCA185329WHRNc.677G>A (p.Arg226Gln)
c.2333G>A (p.Arg778Gln)
c.1306G>A
n.2214G>A
c.1184G>A (p.Arg395Gln)
c.1280G>A (p.Arg427Gln)
c.2330G>A (p.Arg777Gln)
c.1670G>A (p.Arg557Gln)
c.2366G>A (p.Arg789Gln)
c.2363G>A (p.Arg788Gln)
c.2240G>A (p.Arg747Gln)
c.2123G>A (p.Arg708Gln)
c.1043G>A (p.Arg348Gln)
n.3270G>A
n.3168G>A
n.2581G>A
n.2479G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.114403981_114403982delCA1128339804WHRNc.676_677del (p.Gly227LysfsTer11)
c.2332_2333del (p.Gly779LysfsTer11)
c.1305_1306del
n.2213_2214del
c.1183_1184del (p.Gly396LysfsTer11)
c.1279_1280del (p.Gly428LysfsTer11)
c.2329_2330del (p.Gly778LysfsTer11)
c.1669_1670del (p.Gly558LysfsTer11)
c.2365_2366del (p.Gly790LysfsTer11)
c.2362_2363del (p.Gly789LysfsTer11)
c.2239_2240del (p.Gly748LysfsTer11)
c.2122_2123del (p.Gly709LysfsTer11)
c.1042_1043del (p.Gly349LysfsTer11)
n.3269_3270del
n.3167_3168del
n.2580_2581del
n.2478_2479del
 gnomAD v3 gnomAD v4
9g.114403981_114403982insAACA1128339813WHRNc.676_677insTT (p.Arg226LeufsTer?)
c.2332_2333insTT (p.Arg778LeufsTer?)
c.1305_1306insTT
n.2213_2214insTT
c.1183_1184insTT (p.Arg395LeufsTer?)
c.1279_1280insTT (p.Arg427LeufsTer?)
c.2329_2330insTT (p.Arg777LeufsTer?)
c.1669_1670insTT (p.Arg557LeufsTer?)
c.2365_2366insTT (p.Arg789LeufsTer?)
c.2362_2363insTT (p.Arg788LeufsTer?)
c.2239_2240insTT (p.Arg747LeufsTer?)
c.2122_2123insTT (p.Arg708LeufsTer?)
c.1042_1043insTT (p.Arg348LeufsTer?)
n.3269_3270insTT
n.3167_3168insTT
n.2580_2581insTT
n.2478_2479insTT
 gnomAD v3 gnomAD v4
9g.114403981_114403982insACTAAAAACA2785655853WHRNc.676_677insTTTTTAGT (p.Arg226LeufsTer?)
c.2332_2333insTTTTTAGT (p.Arg778LeufsTer?)
c.1305_1306insTTTTTAGT
n.2213_2214insTTTTTAGT
c.1183_1184insTTTTTAGT (p.Arg395LeufsTer?)
c.1279_1280insTTTTTAGT (p.Arg427LeufsTer?)
c.2329_2330insTTTTTAGT (p.Arg777LeufsTer?)
c.1669_1670insTTTTTAGT (p.Arg557LeufsTer?)
c.2365_2366insTTTTTAGT (p.Arg789LeufsTer?)
c.2362_2363insTTTTTAGT (p.Arg788LeufsTer?)
c.2239_2240insTTTTTAGT (p.Arg747LeufsTer?)
c.2122_2123insTTTTTAGT (p.Arg708LeufsTer?)
c.1042_1043insTTTTTAGT (p.Arg348LeufsTer?)
n.3269_3270insTTTTTAGT
n.3167_3168insTTTTTAGT
n.2580_2581insTTTTTAGT
n.2478_2479insTTTTTAGT
9g.114403981_114403982insATTAAAAACA590500548WHRNc.676_677insTTTTTAAT (p.Arg226LeufsTer?)
c.2332_2333insTTTTTAAT (p.Arg778LeufsTer?)
c.1305_1306insTTTTTAAT
n.2213_2214insTTTTTAAT
c.1183_1184insTTTTTAAT (p.Arg395LeufsTer?)
c.1279_1280insTTTTTAAT (p.Arg427LeufsTer?)
c.2329_2330insTTTTTAAT (p.Arg777LeufsTer?)
c.1669_1670insTTTTTAAT (p.Arg557LeufsTer?)
c.2365_2366insTTTTTAAT (p.Arg789LeufsTer?)
c.2362_2363insTTTTTAAT (p.Arg788LeufsTer?)
c.2239_2240insTTTTTAAT (p.Arg747LeufsTer?)
c.2122_2123insTTTTTAAT (p.Arg708LeufsTer?)
c.1042_1043insTTTTTAAT (p.Arg348LeufsTer?)
n.3269_3270insTTTTTAAT
n.3167_3168insTTTTTAAT
n.2580_2581insTTTTTAAT
n.2478_2479insTTTTTAAT
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114403981_114403982insATTAAATACA1128339815WHRNc.676_677insTATTTAAT (p.Arg226LeufsTer?)
c.2332_2333insTATTTAAT (p.Arg778LeufsTer?)
c.1305_1306insTATTTAAT
n.2213_2214insTATTTAAT
c.1183_1184insTATTTAAT (p.Arg395LeufsTer?)
c.1279_1280insTATTTAAT (p.Arg427LeufsTer?)
c.2329_2330insTATTTAAT (p.Arg777LeufsTer?)
c.1669_1670insTATTTAAT (p.Arg557LeufsTer?)
c.2365_2366insTATTTAAT (p.Arg789LeufsTer?)
c.2362_2363insTATTTAAT (p.Arg788LeufsTer?)
c.2239_2240insTATTTAAT (p.Arg747LeufsTer?)
c.2122_2123insTATTTAAT (p.Arg708LeufsTer?)
c.1042_1043insTATTTAAT (p.Arg348LeufsTer?)
n.3269_3270insTATTTAAT
n.3167_3168insTATTTAAT
n.2580_2581insTATTTAAT
n.2478_2479insTATTTAAT
 gnomAD v3 gnomAD v4
9g.114403982G>ACA252404WHRNc.676C>T (p.Arg226Ter)
c.2332C>T (p.Arg778Ter)
c.1305C>T
n.2213C>T
c.1183C>T (p.Arg395Ter)
c.1279C>T (p.Arg427Ter)
c.2329C>T (p.Arg777Ter)
c.1669C>T (p.Arg557Ter)
c.2365C>T (p.Arg789Ter)
c.2362C>T (p.Arg788Ter)
c.2239C>T (p.Arg747Ter)
c.2122C>T (p.Arg708Ter)
c.1042C>T (p.Arg348Ter)
n.3269C>T
n.3167C>T
n.2580C>T
n.2478C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114403982G>CCA374619753WHRNc.676C>G (p.Arg226Gly)
c.2332C>G (p.Arg778Gly)
c.1305C>G
n.2213C>G
c.1183C>G (p.Arg395Gly)
c.1279C>G (p.Arg427Gly)
c.2329C>G (p.Arg777Gly)
c.1669C>G (p.Arg557Gly)
c.2365C>G (p.Arg789Gly)
c.2362C>G (p.Arg788Gly)
c.2239C>G (p.Arg747Gly)
c.2122C>G (p.Arg708Gly)
c.1042C>G (p.Arg348Gly)
n.3269C>G
n.3167C>G
n.2580C>G
n.2478C>G
9g.114403982G=CA1873825888WHRNc.676C= (p.Arg226=)
c.2332C= (p.Arg778=)
c.1305C=
n.2213C=
c.1183C= (p.Arg395=)
c.1279C= (p.Arg427=)
c.2329C= (p.Arg777=)
c.1669C= (p.Arg557=)
c.2365C= (p.Arg789=)
c.2362C= (p.Arg788=)
c.2239C= (p.Arg747=)
c.2122C= (p.Arg708=)
c.1042C= (p.Arg348=)
n.3269C=
n.3167C=
n.2580C=
n.2478C=
9g.114403982G>TCA466781949WHRNc.676C>A (p.Arg226=)
c.2332C>A (p.Arg778=)
c.1305C>A
n.2213C>A
c.1183C>A (p.Arg395=)
c.1279C>A (p.Arg427=)
c.2329C>A (p.Arg777=)
c.1669C>A (p.Arg557=)
c.2365C>A (p.Arg789=)
c.2362C>A (p.Arg788=)
c.2239C>A (p.Arg747=)
c.2122C>A (p.Arg708=)
c.1042C>A (p.Arg348=)
n.3269C>A
n.3167C>A
n.2580C>A
n.2478C>A
 gnomAD v4
9g.114403982_114403983insAAAAAACA1128339824WHRNc.675_676insTTTTTT (p.Gly225_Arg226insPhePhe)
c.2331_2332insTTTTTT (p.Gly777_Arg778insPhePhe)
c.1304_1305insTTTTTT
n.2212_2213insTTTTTT
c.1182_1183insTTTTTT (p.Gly394_Arg395insPhePhe)
c.1278_1279insTTTTTT (p.Gly426_Arg427insPhePhe)
c.2328_2329insTTTTTT (p.Gly776_Arg777insPhePhe)
c.1668_1669insTTTTTT (p.Gly556_Arg557insPhePhe)
c.2364_2365insTTTTTT (p.Gly788_Arg789insPhePhe)
c.2361_2362insTTTTTT (p.Gly787_Arg788insPhePhe)
c.2238_2239insTTTTTT (p.Gly746_Arg747insPhePhe)
c.2121_2122insTTTTTT (p.Gly707_Arg708insPhePhe)
c.1041_1042insTTTTTT (p.Gly347_Arg348insPhePhe)
n.3268_3269insTTTTTT
n.3166_3167insTTTTTT
n.2579_2580insTTTTTT
n.2477_2478insTTTTTT
 gnomAD v3 gnomAD v4
9g.114403982_114403983insAACAAACA2785655857WHRNc.675_676insTTTGTT (p.Gly225_Arg226insPheVal)
c.2331_2332insTTTGTT (p.Gly777_Arg778insPheVal)
c.1304_1305insTTTGTT
n.2212_2213insTTTGTT
c.1182_1183insTTTGTT (p.Gly394_Arg395insPheVal)
c.1278_1279insTTTGTT (p.Gly426_Arg427insPheVal)
c.2328_2329insTTTGTT (p.Gly776_Arg777insPheVal)
c.1668_1669insTTTGTT (p.Gly556_Arg557insPheVal)
c.2364_2365insTTTGTT (p.Gly788_Arg789insPheVal)
c.2361_2362insTTTGTT (p.Gly787_Arg788insPheVal)
c.2238_2239insTTTGTT (p.Gly746_Arg747insPheVal)
c.2121_2122insTTTGTT (p.Gly707_Arg708insPheVal)
c.1041_1042insTTTGTT (p.Gly347_Arg348insPheVal)
n.3268_3269insTTTGTT
n.3166_3167insTTTGTT
n.2579_2580insTTTGTT
n.2477_2478insTTTGTT
9g.114403982_114403983insTAAAAAACA1128339821WHRNc.675_676insTTTTTTA (p.Arg226PhefsTer15)
c.2331_2332insTTTTTTA (p.Arg778PhefsTer15)
c.1304_1305insTTTTTTA
n.2212_2213insTTTTTTA
c.1182_1183insTTTTTTA (p.Arg395PhefsTer15)
c.1278_1279insTTTTTTA (p.Arg427PhefsTer15)
c.2328_2329insTTTTTTA (p.Arg777PhefsTer15)
c.1668_1669insTTTTTTA (p.Arg557PhefsTer15)
c.2364_2365insTTTTTTA (p.Arg789PhefsTer15)
c.2361_2362insTTTTTTA (p.Arg788PhefsTer15)
c.2238_2239insTTTTTTA (p.Arg747PhefsTer15)
c.2121_2122insTTTTTTA (p.Arg708PhefsTer15)
c.1041_1042insTTTTTTA (p.Arg348PhefsTer15)
n.3268_3269insTTTTTTA
n.3166_3167insTTTTTTA
n.2579_2580insTTTTTTA
n.2477_2478insTTTTTTA
 gnomAD v3 gnomAD v4
9g.114403983G>ACA466781950WHRNc.675C>T (p.Gly225=)
c.2331C>T (p.Gly777=)
c.1304C>T
n.2212C>T
c.1182C>T (p.Gly394=)
c.1278C>T (p.Gly426=)
c.2328C>T (p.Gly776=)
c.1668C>T (p.Gly556=)
c.2364C>T (p.Gly788=)
c.2361C>T (p.Gly787=)
c.2238C>T (p.Gly746=)
c.2121C>T (p.Gly707=)
c.1041C>T (p.Gly347=)
n.3268C>T
n.3166C>T
n.2579C>T
n.2477C>T
 gnomAD v4 COSMIC COSMIC
9g.114403983G>CCA466781951WHRNc.675C>G (p.Gly225=)
c.2331C>G (p.Gly777=)
c.1304C>G
n.2212C>G
c.1182C>G (p.Gly394=)
c.1278C>G (p.Gly426=)
c.2328C>G (p.Gly776=)
c.1668C>G (p.Gly556=)
c.2364C>G (p.Gly788=)
c.2361C>G (p.Gly787=)
c.2238C>G (p.Gly746=)
c.2121C>G (p.Gly707=)
c.1041C>G (p.Gly347=)
n.3268C>G
n.3166C>G
n.2579C>G
n.2477C>G
9g.114403983G>TCA466781952WHRNc.675C>A (p.Gly225=)
c.2331C>A (p.Gly777=)
c.1304C>A
n.2212C>A
c.1182C>A (p.Gly394=)
c.1278C>A (p.Gly426=)
c.2328C>A (p.Gly776=)
c.1668C>A (p.Gly556=)
c.2364C>A (p.Gly788=)
c.2361C>A (p.Gly787=)
c.2238C>A (p.Gly746=)
c.2121C>A (p.Gly707=)
c.1041C>A (p.Gly347=)
n.3268C>A
n.3166C>A
n.2579C>A
n.2477C>A
 gnomAD v4 COSMIC COSMIC
9g.114403983_114403984insAAAAAATCA2785655859WHRNc.674_675insATTTTTT (p.Arg226PhefsTer15)
c.2330_2331insATTTTTT (p.Arg778PhefsTer15)
c.1303_1304insATTTTTT
n.2211_2212insATTTTTT
c.1181_1182insATTTTTT (p.Arg395PhefsTer15)
c.1277_1278insATTTTTT (p.Arg427PhefsTer15)
c.2327_2328insATTTTTT (p.Arg777PhefsTer15)
c.1667_1668insATTTTTT (p.Arg557PhefsTer15)
c.2363_2364insATTTTTT (p.Arg789PhefsTer15)
c.2360_2361insATTTTTT (p.Arg788PhefsTer15)
c.2237_2238insATTTTTT (p.Arg747PhefsTer15)
c.2120_2121insATTTTTT (p.Arg708PhefsTer15)
c.1040_1041insATTTTTT (p.Arg348PhefsTer15)
n.3267_3268insATTTTTT
n.3165_3166insATTTTTT
n.2578_2579insATTTTTT
n.2476_2477insATTTTTT
9g.114403984C>ACA374619757WHRNc.674G>T (p.Gly225Val)
c.2330G>T (p.Gly777Val)
c.1303G>T
n.2211G>T
c.1181G>T (p.Gly394Val)
c.1277G>T (p.Gly426Val)
c.2327G>T (p.Gly776Val)
c.1667G>T (p.Gly556Val)
c.2363G>T (p.Gly788Val)
c.2360G>T (p.Gly787Val)
c.2237G>T (p.Gly746Val)
c.2120G>T (p.Gly707Val)
c.1040G>T (p.Gly347Val)
n.3267G>T
n.3165G>T
n.2578G>T
n.2476G>T
9g.114403984C>GCA374619759WHRNc.674G>C (p.Gly225Ala)
c.2330G>C (p.Gly777Ala)
c.1303G>C
n.2211G>C
c.1181G>C (p.Gly394Ala)
c.1277G>C (p.Gly426Ala)
c.2327G>C (p.Gly776Ala)
c.1667G>C (p.Gly556Ala)
c.2363G>C (p.Gly788Ala)
c.2360G>C (p.Gly787Ala)
c.2237G>C (p.Gly746Ala)
c.2120G>C (p.Gly707Ala)
c.1040G>C (p.Gly347Ala)
n.3267G>C
n.3165G>C
n.2578G>C
n.2476G>C
9g.114403984C>TCA374619755WHRNc.674G>A (p.Gly225Asp)
c.2330G>A (p.Gly777Asp)
c.1303G>A
n.2211G>A
c.1181G>A (p.Gly394Asp)
c.1277G>A (p.Gly426Asp)
c.2327G>A (p.Gly776Asp)
c.1667G>A (p.Gly556Asp)
c.2363G>A (p.Gly788Asp)
c.2360G>A (p.Gly787Asp)
c.2237G>A (p.Gly746Asp)
c.2120G>A (p.Gly707Asp)
c.1040G>A (p.Gly347Asp)
n.3267G>A
n.3165G>A
n.2578G>A
n.2476G>A
9g.114403985C>ACA374619760WHRNc.673G>T (p.Gly225Cys)
c.2329G>T (p.Gly777Cys)
c.1302G>T
n.2210G>T
c.1180G>T (p.Gly394Cys)
c.1276G>T (p.Gly426Cys)
c.2326G>T (p.Gly776Cys)
c.1666G>T (p.Gly556Cys)
c.2362G>T (p.Gly788Cys)
c.2359G>T (p.Gly787Cys)
c.2236G>T (p.Gly746Cys)
c.2119G>T (p.Gly707Cys)
c.1039G>T (p.Gly347Cys)
n.3266G>T
n.3164G>T
n.2577G>T
n.2475G>T
9g.114403985C>GCA374619761WHRNc.673G>C (p.Gly225Arg)
c.2329G>C (p.Gly777Arg)
c.1302G>C
n.2210G>C
c.1180G>C (p.Gly394Arg)
c.1276G>C (p.Gly426Arg)
c.2326G>C (p.Gly776Arg)
c.1666G>C (p.Gly556Arg)
c.2362G>C (p.Gly788Arg)
c.2359G>C (p.Gly787Arg)
c.2236G>C (p.Gly746Arg)
c.2119G>C (p.Gly707Arg)
c.1039G>C (p.Gly347Arg)
n.3266G>C
n.3164G>C
n.2577G>C
n.2475G>C
9g.114403985C>TCA374619763WHRNc.673G>A (p.Gly225Ser)
c.2329G>A (p.Gly777Ser)
c.1302G>A
n.2210G>A
c.1180G>A (p.Gly394Ser)
c.1276G>A (p.Gly426Ser)
c.2326G>A (p.Gly776Ser)
c.1666G>A (p.Gly556Ser)
c.2362G>A (p.Gly788Ser)
c.2359G>A (p.Gly787Ser)
c.2236G>A (p.Gly746Ser)
c.2119G>A (p.Gly707Ser)
c.1039G>A (p.Gly347Ser)
n.3266G>A
n.3164G>A
n.2577G>A
n.2475G>A
 gnomAD v4
9g.114403986T>ACA466781954WHRNc.672A>T (p.Pro224=)
c.2328A>T (p.Pro776=)
c.1301A>T
n.2209A>T
c.1179A>T (p.Pro393=)
c.1275A>T (p.Pro425=)
c.2325A>T (p.Pro775=)
c.1665A>T (p.Pro555=)
c.2361A>T (p.Pro787=)
c.2358A>T (p.Pro786=)
c.2235A>T (p.Pro745=)
c.2118A>T (p.Pro706=)
c.1038A>T (p.Pro346=)
n.3265A>T
n.3163A>T
n.2576A>T
n.2474A>T
9g.114403986T>CCA466781955WHRNc.672A>G (p.Pro224=)
c.2328A>G (p.Pro776=)
c.1301A>G
n.2209A>G
c.1179A>G (p.Pro393=)
c.1275A>G (p.Pro425=)
c.2325A>G (p.Pro775=)
c.1665A>G (p.Pro555=)
c.2361A>G (p.Pro787=)
c.2358A>G (p.Pro786=)
c.2235A>G (p.Pro745=)
c.2118A>G (p.Pro706=)
c.1038A>G (p.Pro346=)
n.3265A>G
n.3163A>G
n.2576A>G
n.2474A>G
9g.114403986T>GCA466781956WHRNc.672A>C (p.Pro224=)
c.2328A>C (p.Pro776=)
c.1301A>C
n.2209A>C
c.1179A>C (p.Pro393=)
c.1275A>C (p.Pro425=)
c.2325A>C (p.Pro775=)
c.1665A>C (p.Pro555=)
c.2361A>C (p.Pro787=)
c.2358A>C (p.Pro786=)
c.2235A>C (p.Pro745=)
c.2118A>C (p.Pro706=)
c.1038A>C (p.Pro346=)
n.3265A>C
n.3163A>C
n.2576A>C
n.2474A>C
9g.114403987G>ACA374619764WHRNc.671C>T (p.Pro224Leu)
c.2327C>T (p.Pro776Leu)
c.1300C>T
n.2208C>T
c.1178C>T (p.Pro393Leu)
c.1274C>T (p.Pro425Leu)
c.2324C>T (p.Pro775Leu)
c.1664C>T (p.Pro555Leu)
c.2360C>T (p.Pro787Leu)
c.2357C>T (p.Pro786Leu)
c.2234C>T (p.Pro745Leu)
c.2117C>T (p.Pro706Leu)
c.1037C>T (p.Pro346Leu)
n.3264C>T
n.3162C>T
n.2575C>T
n.2473C>T
 gnomAD v4
9g.114403987G>CCA374619765WHRNc.671C>G (p.Pro224Arg)
c.2327C>G (p.Pro776Arg)
c.1300C>G
n.2208C>G
c.1178C>G (p.Pro393Arg)
c.1274C>G (p.Pro425Arg)
c.2324C>G (p.Pro775Arg)
c.1664C>G (p.Pro555Arg)
c.2360C>G (p.Pro787Arg)
c.2357C>G (p.Pro786Arg)
c.2234C>G (p.Pro745Arg)
c.2117C>G (p.Pro706Arg)
c.1037C>G (p.Pro346Arg)
n.3264C>G
n.3162C>G
n.2575C>G
n.2473C>G
9g.114403987G>TCA374619766WHRNc.671C>A (p.Pro224Gln)
c.2327C>A (p.Pro776Gln)
c.1300C>A
n.2208C>A
c.1178C>A (p.Pro393Gln)
c.1274C>A (p.Pro425Gln)
c.2324C>A (p.Pro775Gln)
c.1664C>A (p.Pro555Gln)
c.2360C>A (p.Pro787Gln)
c.2357C>A (p.Pro786Gln)
c.2234C>A (p.Pro745Gln)
c.2117C>A (p.Pro706Gln)
c.1037C>A (p.Pro346Gln)
n.3264C>A
n.3162C>A
n.2575C>A
n.2473C>A
 gnomAD v4
9g.114403990delCA2691372364WHRNc.671del (p.Pro224GlnfsTer?)
c.2327del (p.Pro776GlnfsTer?)
c.1300del
n.2208del
c.1178del (p.Pro393GlnfsTer?)
c.1274del (p.Pro425GlnfsTer?)
c.2324del (p.Pro775GlnfsTer?)
c.1664del (p.Pro555GlnfsTer?)
c.2360del (p.Pro787GlnfsTer?)
c.2357del (p.Pro786GlnfsTer?)
c.2234del (p.Pro745GlnfsTer?)
c.2117del (p.Pro706GlnfsTer?)
c.1037del (p.Pro346GlnfsTer?)
n.3264del
n.3162del
n.2575del
n.2473del
 gnomAD v4
9g.114403988G>ACA374619768WHRNc.670C>T (p.Pro224Ser)
c.2326C>T (p.Pro776Ser)
c.1299C>T
n.2207C>T
c.1177C>T (p.Pro393Ser)
c.1273C>T (p.Pro425Ser)
c.2323C>T (p.Pro775Ser)
c.1663C>T (p.Pro555Ser)
c.2359C>T (p.Pro787Ser)
c.2356C>T (p.Pro786Ser)
c.2233C>T (p.Pro745Ser)
c.2116C>T (p.Pro706Ser)
c.1036C>T (p.Pro346Ser)
n.3263C>T
n.3161C>T
n.2574C>T
n.2472C>T
 dbSNP gnomAD v2 gnomAD v4
9g.114403988G>CCA374619770WHRNc.670C>G (p.Pro224Ala)
c.2326C>G (p.Pro776Ala)
c.1299C>G
n.2207C>G
c.1177C>G (p.Pro393Ala)
c.1273C>G (p.Pro425Ala)
c.2323C>G (p.Pro775Ala)
c.1663C>G (p.Pro555Ala)
c.2359C>G (p.Pro787Ala)
c.2356C>G (p.Pro786Ala)
c.2233C>G (p.Pro745Ala)
c.2116C>G (p.Pro706Ala)
c.1036C>G (p.Pro346Ala)
n.3263C>G
n.3161C>G
n.2574C>G
n.2472C>G
9g.114403988G=CA1873825889WHRNc.670C= (p.Pro224=)
c.2326C= (p.Pro776=)
c.1299C=
n.2207C=
c.1177C= (p.Pro393=)
c.1273C= (p.Pro425=)
c.2323C= (p.Pro775=)
c.1663C= (p.Pro555=)
c.2359C= (p.Pro787=)
c.2356C= (p.Pro786=)
c.2233C= (p.Pro745=)
c.2116C= (p.Pro706=)
c.1036C= (p.Pro346=)
n.3263C=
n.3161C=
n.2574C=
n.2472C=
9g.114403988G>TCA374619771WHRNc.670C>A (p.Pro224Thr)
c.2326C>A (p.Pro776Thr)
c.1299C>A
n.2207C>A
c.1177C>A (p.Pro393Thr)
c.1273C>A (p.Pro425Thr)
c.2323C>A (p.Pro775Thr)
c.1663C>A (p.Pro555Thr)
c.2359C>A (p.Pro787Thr)
c.2356C>A (p.Pro786Thr)
c.2233C>A (p.Pro745Thr)
c.2116C>A (p.Pro706Thr)
c.1036C>A (p.Pro346Thr)
n.3263C>A
n.3161C>A
n.2574C>A
n.2472C>A
 gnomAD v4
9g.114403989G>ACA466781957WHRNc.669C>T (p.Ala223=)
c.2325C>T (p.Ala775=)
c.1298C>T
n.2206C>T
c.1176C>T (p.Ala392=)
c.1272C>T (p.Ala424=)
c.2322C>T (p.Ala774=)
c.1662C>T (p.Ala554=)
c.2358C>T (p.Ala786=)
c.2355C>T (p.Ala785=)
c.2232C>T (p.Ala744=)
c.2115C>T (p.Ala705=)
c.1035C>T (p.Ala345=)
n.3262C>T
n.3160C>T
n.2573C>T
n.2471C>T
9g.114403989G>CCA466781958WHRNc.669C>G (p.Ala223=)
c.2325C>G (p.Ala775=)
c.1298C>G
n.2206C>G
c.1176C>G (p.Ala392=)
c.1272C>G (p.Ala424=)
c.2322C>G (p.Ala774=)
c.1662C>G (p.Ala554=)
c.2358C>G (p.Ala786=)
c.2355C>G (p.Ala785=)
c.2232C>G (p.Ala744=)
c.2115C>G (p.Ala705=)
c.1035C>G (p.Ala345=)
n.3262C>G
n.3160C>G
n.2573C>G
n.2471C>G
9g.114403989G>TCA466781959WHRNc.669C>A (p.Ala223=)
c.2325C>A (p.Ala775=)
c.1298C>A
n.2206C>A
c.1176C>A (p.Ala392=)
c.1272C>A (p.Ala424=)
c.2322C>A (p.Ala774=)
c.1662C>A (p.Ala554=)
c.2358C>A (p.Ala786=)
c.2355C>A (p.Ala785=)
c.2232C>A (p.Ala744=)
c.2115C>A (p.Ala705=)
c.1035C>A (p.Ala345=)
n.3262C>A
n.3160C>A
n.2573C>A
n.2471C>A
 gnomAD v4
9g.114403990G>ACA374619773WHRNc.668C>T (p.Ala223Val)
c.2324C>T (p.Ala775Val)
c.1297C>T
n.2205C>T
c.1175C>T (p.Ala392Val)
c.1271C>T (p.Ala424Val)
c.2321C>T (p.Ala774Val)
c.1661C>T (p.Ala554Val)
c.2357C>T (p.Ala786Val)
c.2354C>T (p.Ala785Val)
c.2231C>T (p.Ala744Val)
c.2114C>T (p.Ala705Val)
c.1034C>T (p.Ala345Val)
n.3261C>T
n.3159C>T
n.2572C>T
n.2470C>T
9g.114403990G>CCA374619774WHRNc.668C>G (p.Ala223Gly)
c.2324C>G (p.Ala775Gly)
c.1297C>G
n.2205C>G
c.1175C>G (p.Ala392Gly)
c.1271C>G (p.Ala424Gly)
c.2321C>G (p.Ala774Gly)
c.1661C>G (p.Ala554Gly)
c.2357C>G (p.Ala786Gly)
c.2354C>G (p.Ala785Gly)
c.2231C>G (p.Ala744Gly)
c.2114C>G (p.Ala705Gly)
c.1034C>G (p.Ala345Gly)
n.3261C>G
n.3159C>G
n.2572C>G
n.2470C>G
9g.114403990G=CA1873825890WHRNc.668C= (p.Ala223=)
c.2324C= (p.Ala775=)
c.1297C=
n.2205C=
c.1175C= (p.Ala392=)
c.1271C= (p.Ala424=)
c.2321C= (p.Ala774=)
c.1661C= (p.Ala554=)
c.2357C= (p.Ala786=)
c.2354C= (p.Ala785=)
c.2231C= (p.Ala744=)
c.2114C= (p.Ala705=)
c.1034C= (p.Ala345=)
n.3261C=
n.3159C=
n.2572C=
n.2470C=
9g.114403990G>TCA374619776WHRNc.668C>A (p.Ala223Asp)
c.2324C>A (p.Ala775Asp)
c.1297C>A
n.2205C>A
c.1175C>A (p.Ala392Asp)
c.1271C>A (p.Ala424Asp)
c.2321C>A (p.Ala774Asp)
c.1661C>A (p.Ala554Asp)
c.2357C>A (p.Ala786Asp)
c.2354C>A (p.Ala785Asp)
c.2231C>A (p.Ala744Asp)
c.2114C>A (p.Ala705Asp)
c.1034C>A (p.Ala345Asp)
n.3261C>A
n.3159C>A
n.2572C>A
n.2470C>A
 dbSNP gnomAD v2 gnomAD v4
9g.114403991C>ACA374619778WHRNc.667G>T (p.Ala223Ser)
c.2323G>T (p.Ala775Ser)
c.1296G>T
n.2204G>T
c.1174G>T (p.Ala392Ser)
c.1270G>T (p.Ala424Ser)
c.2320G>T (p.Ala774Ser)
c.1660G>T (p.Ala554Ser)
c.2356G>T (p.Ala786Ser)
c.2353G>T (p.Ala785Ser)
c.2230G>T (p.Ala744Ser)
c.2113G>T (p.Ala705Ser)
c.1033G>T (p.Ala345Ser)
n.3260G>T
n.3158G>T
n.2571G>T
n.2469G>T
9g.114403991C=CA1873825891WHRNc.667G= (p.Ala223=)
c.2323G= (p.Ala775=)
c.1296G=
n.2204G=
c.1174G= (p.Ala392=)
c.1270G= (p.Ala424=)
c.2320G= (p.Ala774=)
c.1660G= (p.Ala554=)
c.2356G= (p.Ala786=)
c.2353G= (p.Ala785=)
c.2230G= (p.Ala744=)
c.2113G= (p.Ala705=)
c.1033G= (p.Ala345=)
n.3260G=
n.3158G=
n.2571G=
n.2469G=
9g.114403991C>GCA374619779WHRNc.667G>C (p.Ala223Pro)
c.2323G>C (p.Ala775Pro)
c.1296G>C
n.2204G>C
c.1174G>C (p.Ala392Pro)
c.1270G>C (p.Ala424Pro)
c.2320G>C (p.Ala774Pro)
c.1660G>C (p.Ala554Pro)
c.2356G>C (p.Ala786Pro)
c.2353G>C (p.Ala785Pro)
c.2230G>C (p.Ala744Pro)
c.2113G>C (p.Ala705Pro)
c.1033G>C (p.Ala345Pro)
n.3260G>C
n.3158G>C
n.2571G>C
n.2469G>C
9g.114403991C>TCA5205667WHRNc.667G>A (p.Ala223Thr)
c.2323G>A (p.Ala775Thr)
c.1296G>A
n.2204G>A
c.1174G>A (p.Ala392Thr)
c.1270G>A (p.Ala424Thr)
c.2320G>A (p.Ala774Thr)
c.1660G>A (p.Ala554Thr)
c.2356G>A (p.Ala786Thr)
c.2353G>A (p.Ala785Thr)
c.2230G>A (p.Ala744Thr)
c.2113G>A (p.Ala705Thr)
c.1033G>A (p.Ala345Thr)
n.3260G>A
n.3158G>A
n.2571G>A
n.2469G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114403992G>ACA5205668WHRNc.666C>T (p.Ser222=)
c.2322C>T (p.Ser774=)
c.1295C>T
n.2203C>T
c.1173C>T (p.Ser391=)
c.1269C>T (p.Ser423=)
c.2319C>T (p.Ser773=)
c.1659C>T (p.Ser553=)
c.2355C>T (p.Ser785=)
c.2352C>T (p.Ser784=)
c.2229C>T (p.Ser743=)
c.2112C>T (p.Ser704=)
c.1032C>T (p.Ser344=)
n.3259C>T
n.3157C>T
n.2570C>T
n.2468C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114403992G>CCA374619781WHRNc.666C>G (p.Ser222Arg)
c.2322C>G (p.Ser774Arg)
c.1295C>G
n.2203C>G
c.1173C>G (p.Ser391Arg)
c.1269C>G (p.Ser423Arg)
c.2319C>G (p.Ser773Arg)
c.1659C>G (p.Ser553Arg)
c.2355C>G (p.Ser785Arg)
c.2352C>G (p.Ser784Arg)
c.2229C>G (p.Ser743Arg)
c.2112C>G (p.Ser704Arg)
c.1032C>G (p.Ser344Arg)
n.3259C>G
n.3157C>G
n.2570C>G
n.2468C>G
9g.114403992G=CA1873825892WHRNc.666C= (p.Ser222=)
c.2322C= (p.Ser774=)
c.1295C=
n.2203C=
c.1173C= (p.Ser391=)
c.1269C= (p.Ser423=)
c.2319C= (p.Ser773=)
c.1659C= (p.Ser553=)
c.2355C= (p.Ser785=)
c.2352C= (p.Ser784=)
c.2229C= (p.Ser743=)
c.2112C= (p.Ser704=)
c.1032C= (p.Ser344=)
n.3259C=
n.3157C=
n.2570C=
n.2468C=
9g.114403992G>TCA374619782WHRNc.666C>A (p.Ser222Arg)
c.2322C>A (p.Ser774Arg)
c.1295C>A
n.2203C>A
c.1173C>A (p.Ser391Arg)
c.1269C>A (p.Ser423Arg)
c.2319C>A (p.Ser773Arg)
c.1659C>A (p.Ser553Arg)
c.2355C>A (p.Ser785Arg)
c.2352C>A (p.Ser784Arg)
c.2229C>A (p.Ser743Arg)
c.2112C>A (p.Ser704Arg)
c.1032C>A (p.Ser344Arg)
n.3259C>A
n.3157C>A
n.2570C>A
n.2468C>A
 gnomAD v4
9g.114403993C>ACA374619784WHRNc.665G>T (p.Ser222Ile)
c.2321G>T (p.Ser774Ile)
c.1294G>T
n.2202G>T
c.1172G>T (p.Ser391Ile)
c.1268G>T (p.Ser423Ile)
c.2318G>T (p.Ser773Ile)
c.1658G>T (p.Ser553Ile)
c.2354G>T (p.Ser785Ile)
c.2351G>T (p.Ser784Ile)
c.2228G>T (p.Ser743Ile)
c.2111G>T (p.Ser704Ile)
c.1031G>T (p.Ser344Ile)
n.3258G>T
n.3156G>T
n.2569G>T
n.2467G>T
9g.114403993C>GCA374619786WHRNc.665G>C (p.Ser222Thr)
c.2321G>C (p.Ser774Thr)
c.1294G>C
n.2202G>C
c.1172G>C (p.Ser391Thr)
c.1268G>C (p.Ser423Thr)
c.2318G>C (p.Ser773Thr)
c.1658G>C (p.Ser553Thr)
c.2354G>C (p.Ser785Thr)
c.2351G>C (p.Ser784Thr)
c.2228G>C (p.Ser743Thr)
c.2111G>C (p.Ser704Thr)
c.1031G>C (p.Ser344Thr)
n.3258G>C
n.3156G>C
n.2569G>C
n.2467G>C
9g.114403993C>TCA374619787WHRNc.665G>A (p.Ser222Asn)
c.2321G>A (p.Ser774Asn)
c.1294G>A
n.2202G>A
c.1172G>A (p.Ser391Asn)
c.1268G>A (p.Ser423Asn)
c.2318G>A (p.Ser773Asn)
c.1658G>A (p.Ser553Asn)
c.2354G>A (p.Ser785Asn)
c.2351G>A (p.Ser784Asn)
c.2228G>A (p.Ser743Asn)
c.2111G>A (p.Ser704Asn)
c.1031G>A (p.Ser344Asn)
n.3258G>A
n.3156G>A
n.2569G>A
n.2467G>A
 gnomAD v4
9g.114403994T>ACA374619792WHRNc.664A>T (p.Ser222Cys)
c.2320A>T (p.Ser774Cys)
c.1293A>T
n.2201A>T
c.1171A>T (p.Ser391Cys)
c.1267A>T (p.Ser423Cys)
c.2317A>T (p.Ser773Cys)
c.1657A>T (p.Ser553Cys)
c.2353A>T (p.Ser785Cys)
c.2350A>T (p.Ser784Cys)
c.2227A>T (p.Ser743Cys)
c.2110A>T (p.Ser704Cys)
c.1030A>T (p.Ser344Cys)
n.3257A>T
n.3155A>T
n.2568A>T
n.2466A>T
9g.114403994T>CCA374619789WHRNc.664A>G (p.Ser222Gly)
c.2320A>G (p.Ser774Gly)
c.1293A>G
n.2201A>G
c.1171A>G (p.Ser391Gly)
c.1267A>G (p.Ser423Gly)
c.2317A>G (p.Ser773Gly)
c.1657A>G (p.Ser553Gly)
c.2353A>G (p.Ser785Gly)
c.2350A>G (p.Ser784Gly)
c.2227A>G (p.Ser743Gly)
c.2110A>G (p.Ser704Gly)
c.1030A>G (p.Ser344Gly)
n.3257A>G
n.3155A>G
n.2568A>G
n.2466A>G
9g.114403994T>GCA374619790WHRNc.664A>C (p.Ser222Arg)
c.2320A>C (p.Ser774Arg)
c.1293A>C
n.2201A>C
c.1171A>C (p.Ser391Arg)
c.1267A>C (p.Ser423Arg)
c.2317A>C (p.Ser773Arg)
c.1657A>C (p.Ser553Arg)
c.2353A>C (p.Ser785Arg)
c.2350A>C (p.Ser784Arg)
c.2227A>C (p.Ser743Arg)
c.2110A>C (p.Ser704Arg)
c.1030A>C (p.Ser344Arg)
n.3257A>C
n.3155A>C
n.2568A>C
n.2466A>C
9g.114403995G>ACA466781963WHRNc.663C>T (p.Ala221=)
c.2319C>T (p.Ala773=)
c.1292C>T
n.2200C>T
c.1170C>T (p.Ala390=)
c.1266C>T (p.Ala422=)
c.2316C>T (p.Ala772=)
c.1656C>T (p.Ala552=)
c.2352C>T (p.Ala784=)
c.2349C>T (p.Ala783=)
c.2226C>T (p.Ala742=)
c.2109C>T (p.Ala703=)
c.1029C>T (p.Ala343=)
n.3256C>T
n.3154C>T
n.2567C>T
n.2465C>T
9g.114403995G>CCA466781964WHRNc.663C>G (p.Ala221=)
c.2319C>G (p.Ala773=)
c.1292C>G
n.2200C>G
c.1170C>G (p.Ala390=)
c.1266C>G (p.Ala422=)
c.2316C>G (p.Ala772=)
c.1656C>G (p.Ala552=)
c.2352C>G (p.Ala784=)
c.2349C>G (p.Ala783=)
c.2226C>G (p.Ala742=)
c.2109C>G (p.Ala703=)
c.1029C>G (p.Ala343=)
n.3256C>G
n.3154C>G
n.2567C>G
n.2465C>G
9g.114403995G>TCA466781965WHRNc.663C>A (p.Ala221=)
c.2319C>A (p.Ala773=)
c.1292C>A
n.2200C>A
c.1170C>A (p.Ala390=)
c.1266C>A (p.Ala422=)
c.2316C>A (p.Ala772=)
c.1656C>A (p.Ala552=)
c.2352C>A (p.Ala784=)
c.2349C>A (p.Ala783=)
c.2226C>A (p.Ala742=)
c.2109C>A (p.Ala703=)
c.1029C>A (p.Ala343=)
n.3256C>A
n.3154C>A
n.2567C>A
n.2465C>A
 gnomAD v4
9g.114403996G>ACA374619793WHRNc.662C>T (p.Ala221Val)
c.2318C>T (p.Ala773Val)
c.1291C>T
n.2199C>T
c.1169C>T (p.Ala390Val)
c.1265C>T (p.Ala422Val)
c.2315C>T (p.Ala772Val)
c.1655C>T (p.Ala552Val)
c.2351C>T (p.Ala784Val)
c.2348C>T (p.Ala783Val)
c.2225C>T (p.Ala742Val)
c.2108C>T (p.Ala703Val)
c.1028C>T (p.Ala343Val)
n.3255C>T
n.3153C>T
n.2566C>T
n.2464C>T
 gnomAD v4
9g.114403996G>CCA374619795WHRNc.662C>G (p.Ala221Gly)
c.2318C>G (p.Ala773Gly)
c.1291C>G
n.2199C>G
c.1169C>G (p.Ala390Gly)
c.1265C>G (p.Ala422Gly)
c.2315C>G (p.Ala772Gly)
c.1655C>G (p.Ala552Gly)
c.2351C>G (p.Ala784Gly)
c.2348C>G (p.Ala783Gly)
c.2225C>G (p.Ala742Gly)
c.2108C>G (p.Ala703Gly)
c.1028C>G (p.Ala343Gly)
n.3255C>G
n.3153C>G
n.2566C>G
n.2464C>G
9g.114403996G>TCA374619796WHRNc.662C>A (p.Ala221Asp)
c.2318C>A (p.Ala773Asp)
c.1291C>A
n.2199C>A
c.1169C>A (p.Ala390Asp)
c.1265C>A (p.Ala422Asp)
c.2315C>A (p.Ala772Asp)
c.1655C>A (p.Ala552Asp)
c.2351C>A (p.Ala784Asp)
c.2348C>A (p.Ala783Asp)
c.2225C>A (p.Ala742Asp)
c.2108C>A (p.Ala703Asp)
c.1028C>A (p.Ala343Asp)
n.3255C>A
n.3153C>A
n.2566C>A
n.2464C>A
 gnomAD v4
9g.114403997C>ACA374619798WHRNc.661G>T (p.Ala221Ser)
c.2317G>T (p.Ala773Ser)
c.1290G>T
n.2198G>T
c.1168G>T (p.Ala390Ser)
c.1264G>T (p.Ala422Ser)
c.2314G>T (p.Ala772Ser)
c.1654G>T (p.Ala552Ser)
c.2350G>T (p.Ala784Ser)
c.2347G>T (p.Ala783Ser)
c.2224G>T (p.Ala742Ser)
c.2107G>T (p.Ala703Ser)
c.1027G>T (p.Ala343Ser)
n.3254G>T
n.3152G>T
n.2565G>T
n.2463G>T
9g.114403997C>GCA374619800WHRNc.661G>C (p.Ala221Pro)
c.2317G>C (p.Ala773Pro)
c.1290G>C
n.2198G>C
c.1168G>C (p.Ala390Pro)
c.1264G>C (p.Ala422Pro)
c.2314G>C (p.Ala772Pro)
c.1654G>C (p.Ala552Pro)
c.2350G>C (p.Ala784Pro)
c.2347G>C (p.Ala783Pro)
c.2224G>C (p.Ala742Pro)
c.2107G>C (p.Ala703Pro)
c.1027G>C (p.Ala343Pro)
n.3254G>C
n.3152G>C
n.2565G>C
n.2463G>C
9g.114403997C>TCA374619801WHRNc.661G>A (p.Ala221Thr)
c.2317G>A (p.Ala773Thr)
c.1290G>A
n.2198G>A
c.1168G>A (p.Ala390Thr)
c.1264G>A (p.Ala422Thr)
c.2314G>A (p.Ala772Thr)
c.1654G>A (p.Ala552Thr)
c.2350G>A (p.Ala784Thr)
c.2347G>A (p.Ala783Thr)
c.2224G>A (p.Ala742Thr)
c.2107G>A (p.Ala703Thr)
c.1027G>A (p.Ala343Thr)
n.3254G>A
n.3152G>A
n.2565G>A
n.2463G>A
 dbSNP
9g.114403998C>ACA374619803WHRNc.660G>T (p.Glu220Asp)
c.2316G>T (p.Glu772Asp)
c.1289G>T
n.2197G>T
c.1167G>T (p.Glu389Asp)
c.1263G>T (p.Glu421Asp)
c.2313G>T (p.Glu771Asp)
c.1653G>T (p.Glu551Asp)
c.2349G>T (p.Glu783Asp)
c.2346G>T (p.Glu782Asp)
c.2223G>T (p.Glu741Asp)
c.2106G>T (p.Glu702Asp)
c.1026G>T (p.Glu342Asp)
n.3253G>T
n.3151G>T
n.2564G>T
n.2462G>T
9g.114403998C=CA1873825893WHRNc.660G= (p.Glu220=)
c.2316G= (p.Glu772=)
c.1289G=
n.2197G=
c.1167G= (p.Glu389=)
c.1263G= (p.Glu421=)
c.2313G= (p.Glu771=)
c.1653G= (p.Glu551=)
c.2349G= (p.Glu783=)
c.2346G= (p.Glu782=)
c.2223G= (p.Glu741=)
c.2106G= (p.Glu702=)
c.1026G= (p.Glu342=)
n.3253G=
n.3151G=
n.2564G=
n.2462G=
9g.114403998C>GCA374619804WHRNc.660G>C (p.Glu220Asp)
c.2316G>C (p.Glu772Asp)
c.1289G>C
n.2197G>C
c.1167G>C (p.Glu389Asp)
c.1263G>C (p.Glu421Asp)
c.2313G>C (p.Glu771Asp)
c.1653G>C (p.Glu551Asp)
c.2349G>C (p.Glu783Asp)
c.2346G>C (p.Glu782Asp)
c.2223G>C (p.Glu741Asp)
c.2106G>C (p.Glu702Asp)
c.1026G>C (p.Glu342Asp)
n.3253G>C
n.3151G>C
n.2564G>C
n.2462G>C
 gnomAD v4
9g.114403998C>TCA466781967WHRNc.660G>A (p.Glu220=)
c.2316G>A (p.Glu772=)
c.1289G>A
n.2197G>A
c.1167G>A (p.Glu389=)
c.1263G>A (p.Glu421=)
c.2313G>A (p.Glu771=)
c.1653G>A (p.Glu551=)
c.2349G>A (p.Glu783=)
c.2346G>A (p.Glu782=)
c.2223G>A (p.Glu741=)
c.2106G>A (p.Glu702=)
c.1026G>A (p.Glu342=)
n.3253G>A
n.3151G>A
n.2564G>A
n.2462G>A
 dbSNP gnomAD v2 gnomAD v4
9g.114403999T>ACA374619805WHRNc.659A>T (p.Glu220Val)
c.2315A>T (p.Glu772Val)
c.1288A>T
n.2196A>T
c.1166A>T (p.Glu389Val)
c.1262A>T (p.Glu421Val)
c.2312A>T (p.Glu771Val)
c.1652A>T (p.Glu551Val)
c.2348A>T (p.Glu783Val)
c.2345A>T (p.Glu782Val)
c.2222A>T (p.Glu741Val)
c.2105A>T (p.Glu702Val)
c.1025A>T (p.Glu342Val)
n.3252A>T
n.3150A>T
n.2563A>T
n.2461A>T
9g.114403999T>CCA374619807WHRNc.659A>G (p.Glu220Gly)
c.2315A>G (p.Glu772Gly)
c.1288A>G
n.2196A>G
c.1166A>G (p.Glu389Gly)
c.1262A>G (p.Glu421Gly)
c.2312A>G (p.Glu771Gly)
c.1652A>G (p.Glu551Gly)
c.2348A>G (p.Glu783Gly)
c.2345A>G (p.Glu782Gly)
c.2222A>G (p.Glu741Gly)
c.2105A>G (p.Glu702Gly)
c.1025A>G (p.Glu342Gly)
n.3252A>G
n.3150A>G
n.2563A>G
n.2461A>G
9g.114403999T>GCA374619808WHRNc.659A>C (p.Glu220Ala)
c.2315A>C (p.Glu772Ala)
c.1288A>C
n.2196A>C
c.1166A>C (p.Glu389Ala)
c.1262A>C (p.Glu421Ala)
c.2312A>C (p.Glu771Ala)
c.1652A>C (p.Glu551Ala)
c.2348A>C (p.Glu783Ala)
c.2345A>C (p.Glu782Ala)
c.2222A>C (p.Glu741Ala)
c.2105A>C (p.Glu702Ala)
c.1025A>C (p.Glu342Ala)
n.3252A>C
n.3150A>C
n.2563A>C
n.2461A>C
9g.114404000C>ACA374619810WHRNc.658G>T (p.Glu220Ter)
c.2314G>T (p.Glu772Ter)
c.1287G>T
n.2195G>T
c.1165G>T (p.Glu389Ter)
c.1261G>T (p.Glu421Ter)
c.2311G>T (p.Glu771Ter)
c.1651G>T (p.Glu551Ter)
c.2347G>T (p.Glu783Ter)
c.2344G>T (p.Glu782Ter)
c.2221G>T (p.Glu741Ter)
c.2104G>T (p.Glu702Ter)
c.1024G>T (p.Glu342Ter)
n.3251G>T
n.3149G>T
n.2562G>T
n.2460G>T
9g.114404000C=CA1873825894WHRNc.658G= (p.Glu220=)
c.2314G= (p.Glu772=)
c.1287G=
n.2195G=
c.1165G= (p.Glu389=)
c.1261G= (p.Glu421=)
c.2311G= (p.Glu771=)
c.1651G= (p.Glu551=)
c.2347G= (p.Glu783=)
c.2344G= (p.Glu782=)
c.2221G= (p.Glu741=)
c.2104G= (p.Glu702=)
c.1024G= (p.Glu342=)
n.3251G=
n.3149G=
n.2562G=
n.2460G=
9g.114404000C>GCA374619811WHRNc.658G>C (p.Glu220Gln)
c.2314G>C (p.Glu772Gln)
c.1287G>C
n.2195G>C
c.1165G>C (p.Glu389Gln)
c.1261G>C (p.Glu421Gln)
c.2311G>C (p.Glu771Gln)
c.1651G>C (p.Glu551Gln)
c.2347G>C (p.Glu783Gln)
c.2344G>C (p.Glu782Gln)
c.2221G>C (p.Glu741Gln)
c.2104G>C (p.Glu702Gln)
c.1024G>C (p.Glu342Gln)
n.3251G>C
n.3149G>C
n.2562G>C
n.2460G>C
9g.114404000C>TCA374619813WHRNc.658G>A (p.Glu220Lys)
c.2314G>A (p.Glu772Lys)
c.1287G>A
n.2195G>A
c.1165G>A (p.Glu389Lys)
c.1261G>A (p.Glu421Lys)
c.2311G>A (p.Glu771Lys)
c.1651G>A (p.Glu551Lys)
c.2347G>A (p.Glu783Lys)
c.2344G>A (p.Glu782Lys)
c.2221G>A (p.Glu741Lys)
c.2104G>A (p.Glu702Lys)
c.1024G>A (p.Glu342Lys)
n.3251G>A
n.3149G>A
n.2562G>A
n.2460G>A
 ClinVar dbSNP gnomAD v2
9g.114404001T>ACA466781971WHRNc.657A>T (p.Ala219=)
c.2313A>T (p.Ala771=)
c.1286A>T
n.2194A>T
c.1164A>T (p.Ala388=)
c.1260A>T (p.Ala420=)
c.2310A>T (p.Ala770=)
c.1650A>T (p.Ala550=)
c.2346A>T (p.Ala782=)
c.2343A>T (p.Ala781=)
c.2220A>T (p.Ala740=)
c.2103A>T (p.Ala701=)
c.1023A>T (p.Ala341=)
n.3250A>T
n.3148A>T
n.2561A>T
n.2459A>T
9g.114404001T>CCA466781972WHRNc.657A>G (p.Ala219=)
c.2313A>G (p.Ala771=)
c.1286A>G
n.2194A>G
c.1164A>G (p.Ala388=)
c.1260A>G (p.Ala420=)
c.2310A>G (p.Ala770=)
c.1650A>G (p.Ala550=)
c.2346A>G (p.Ala782=)
c.2343A>G (p.Ala781=)
c.2220A>G (p.Ala740=)
c.2103A>G (p.Ala701=)
c.1023A>G (p.Ala341=)
n.3250A>G
n.3148A>G
n.2561A>G
n.2459A>G
9g.114404001T>GCA466781973WHRNc.657A>C (p.Ala219=)
c.2313A>C (p.Ala771=)
c.1286A>C
n.2194A>C
c.1164A>C (p.Ala388=)
c.1260A>C (p.Ala420=)
c.2310A>C (p.Ala770=)
c.1650A>C (p.Ala550=)
c.2346A>C (p.Ala782=)
c.2343A>C (p.Ala781=)
c.2220A>C (p.Ala740=)
c.2103A>C (p.Ala701=)
c.1023A>C (p.Ala341=)
n.3250A>C
n.3148A>C
n.2561A>C
n.2459A>C
9g.114404002G>ACA374619814WHRNc.656C>T (p.Ala219Val)
c.2312C>T (p.Ala771Val)
c.1285C>T
n.2193C>T
c.1163C>T (p.Ala388Val)
c.1259C>T (p.Ala420Val)
c.2309C>T (p.Ala770Val)
c.1649C>T (p.Ala550Val)
c.2345C>T (p.Ala782Val)
c.2342C>T (p.Ala781Val)
c.2219C>T (p.Ala740Val)
c.2102C>T (p.Ala701Val)
c.1022C>T (p.Ala341Val)
n.3249C>T
n.3147C>T
n.2560C>T
n.2458C>T
 gnomAD v4
9g.114404002G>CCA374619816WHRNc.656C>G (p.Ala219Gly)
c.2312C>G (p.Ala771Gly)
c.1285C>G
n.2193C>G
c.1163C>G (p.Ala388Gly)
c.1259C>G (p.Ala420Gly)
c.2309C>G (p.Ala770Gly)
c.1649C>G (p.Ala550Gly)
c.2345C>G (p.Ala782Gly)
c.2342C>G (p.Ala781Gly)
c.2219C>G (p.Ala740Gly)
c.2102C>G (p.Ala701Gly)
c.1022C>G (p.Ala341Gly)
n.3249C>G
n.3147C>G
n.2560C>G
n.2458C>G
9g.114404002G>TCA374619817WHRNc.656C>A (p.Ala219Glu)
c.2312C>A (p.Ala771Glu)
c.1285C>A
n.2193C>A
c.1163C>A (p.Ala388Glu)
c.1259C>A (p.Ala420Glu)
c.2309C>A (p.Ala770Glu)
c.1649C>A (p.Ala550Glu)
c.2345C>A (p.Ala782Glu)
c.2342C>A (p.Ala781Glu)
c.2219C>A (p.Ala740Glu)
c.2102C>A (p.Ala701Glu)
c.1022C>A (p.Ala341Glu)
n.3249C>A
n.3147C>A
n.2560C>A
n.2458C>A
 gnomAD v4
9g.114404006_114408890delCA916084278WHRNc.1627-868_2312del
c.600-868_1285del
n.1508-868_2193del
c.478-868_1163del
c.574-868_1259del
c.1627-868_2309del
c.964-868_1649del
c.1660-868_2345del
c.1660-868_2342del
c.1534-868_2219del
c.1417-868_2102del
c.337-868_1022del
n.2564-868_3249del
n.2462-868_3147del
n.1875-868_2560del
n.1773-868_2458del
 ClinVar
9g.114404003C>ACA374619819WHRNc.655G>T (p.Ala219Ser)
c.2311G>T (p.Ala771Ser)
c.1284G>T
n.2192G>T
c.1162G>T (p.Ala388Ser)
c.1258G>T (p.Ala420Ser)
c.2308G>T (p.Ala770Ser)
c.1648G>T (p.Ala550Ser)
c.2344G>T (p.Ala782Ser)
c.2341G>T (p.Ala781Ser)
c.2218G>T (p.Ala740Ser)
c.2101G>T (p.Ala701Ser)
c.1021G>T (p.Ala341Ser)
n.3248G>T
n.3146G>T
n.2559G>T
n.2457G>T
 gnomAD v4
9g.114404003C=CA1873825895WHRNc.655G= (p.Ala219=)
c.2311G= (p.Ala771=)
c.1284G=
n.2192G=
c.1162G= (p.Ala388=)
c.1258G= (p.Ala420=)
c.2308G= (p.Ala770=)
c.1648G= (p.Ala550=)
c.2344G= (p.Ala782=)
c.2341G= (p.Ala781=)
c.2218G= (p.Ala740=)
c.2101G= (p.Ala701=)
c.1021G= (p.Ala341=)
n.3248G=
n.3146G=
n.2559G=
n.2457G=
9g.114404003C>GCA374619820WHRNc.655G>C (p.Ala219Pro)
c.2311G>C (p.Ala771Pro)
c.1284G>C
n.2192G>C
c.1162G>C (p.Ala388Pro)
c.1258G>C (p.Ala420Pro)
c.2308G>C (p.Ala770Pro)
c.1648G>C (p.Ala550Pro)
c.2344G>C (p.Ala782Pro)
c.2341G>C (p.Ala781Pro)
c.2218G>C (p.Ala740Pro)
c.2101G>C (p.Ala701Pro)
c.1021G>C (p.Ala341Pro)
n.3248G>C
n.3146G>C
n.2559G>C
n.2457G>C
9g.114404003C>TCA374619821WHRNc.655G>A (p.Ala219Thr)
c.2311G>A (p.Ala771Thr)
c.1284G>A
n.2192G>A
c.1162G>A (p.Ala388Thr)
c.1258G>A (p.Ala420Thr)
c.2308G>A (p.Ala770Thr)
c.1648G>A (p.Ala550Thr)
c.2344G>A (p.Ala782Thr)
c.2341G>A (p.Ala781Thr)
c.2218G>A (p.Ala740Thr)
c.2101G>A (p.Ala701Thr)
c.1021G>A (p.Ala341Thr)
n.3248G>A
n.3146G>A
n.2559G>A
n.2457G>A
 dbSNP gnomAD v2 gnomAD v4
9g.114404004C>ACA374619823WHRNc.654G>T (p.Glu218Asp)
c.2310G>T (p.Glu770Asp)
c.1283G>T
n.2191G>T
c.1161G>T (p.Glu387Asp)
c.1257G>T (p.Glu419Asp)
c.2307G>T (p.Glu769Asp)
c.1647G>T (p.Glu549Asp)
c.2343G>T (p.Glu781Asp)
c.2340G>T (p.Glu780Asp)
c.2217G>T (p.Glu739Asp)
c.2100G>T (p.Glu700Asp)
c.1020G>T (p.Glu340Asp)
n.3247G>T
n.3145G>T
n.2558G>T
n.2456G>T
9g.114404004C>GCA374619825WHRNc.654G>C (p.Glu218Asp)
c.2310G>C (p.Glu770Asp)
c.1283G>C
n.2191G>C
c.1161G>C (p.Glu387Asp)
c.1257G>C (p.Glu419Asp)
c.2307G>C (p.Glu769Asp)
c.1647G>C (p.Glu549Asp)
c.2343G>C (p.Glu781Asp)
c.2340G>C (p.Glu780Asp)
c.2217G>C (p.Glu739Asp)
c.2100G>C (p.Glu700Asp)
c.1020G>C (p.Glu340Asp)
n.3247G>C
n.3145G>C
n.2558G>C
n.2456G>C
9g.114404004C>TCA466781974WHRNc.654G>A (p.Glu218=)
c.2310G>A (p.Glu770=)
c.1283G>A
n.2191G>A
c.1161G>A (p.Glu387=)
c.1257G>A (p.Glu419=)
c.2307G>A (p.Glu769=)
c.1647G>A (p.Glu549=)
c.2343G>A (p.Glu781=)
c.2340G>A (p.Glu780=)
c.2217G>A (p.Glu739=)
c.2100G>A (p.Glu700=)
c.1020G>A (p.Glu340=)
n.3247G>A
n.3145G>A
n.2558G>A
n.2456G>A
9g.114404005T>ACA374619830WHRNc.653A>T (p.Glu218Val)
c.2309A>T (p.Glu770Val)
c.1282A>T
n.2190A>T
c.1160A>T (p.Glu387Val)
c.1256A>T (p.Glu419Val)
c.2306A>T (p.Glu769Val)
c.1646A>T (p.Glu549Val)
c.2342A>T (p.Glu781Val)
c.2339A>T (p.Glu780Val)
c.2216A>T (p.Glu739Val)
c.2099A>T (p.Glu700Val)
c.1019A>T (p.Glu340Val)
n.3246A>T
n.3144A>T
n.2557A>T
n.2455A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.114404005T>CCA374619828WHRNc.653A>G (p.Glu218Gly)
c.2309A>G (p.Glu770Gly)
c.1282A>G
n.2190A>G
c.1160A>G (p.Glu387Gly)
c.1256A>G (p.Glu419Gly)
c.2306A>G (p.Glu769Gly)
c.1646A>G (p.Glu549Gly)
c.2342A>G (p.Glu781Gly)
c.2339A>G (p.Glu780Gly)
c.2216A>G (p.Glu739Gly)
c.2099A>G (p.Glu700Gly)
c.1019A>G (p.Glu340Gly)
n.3246A>G
n.3144A>G
n.2557A>G
n.2455A>G
9g.114404005T>GCA374619827WHRNc.653A>C (p.Glu218Ala)
c.2309A>C (p.Glu770Ala)
c.1282A>C
n.2190A>C
c.1160A>C (p.Glu387Ala)
c.1256A>C (p.Glu419Ala)
c.2306A>C (p.Glu769Ala)
c.1646A>C (p.Glu549Ala)
c.2342A>C (p.Glu781Ala)
c.2339A>C (p.Glu780Ala)
c.2216A>C (p.Glu739Ala)
c.2099A>C (p.Glu700Ala)
c.1019A>C (p.Glu340Ala)
n.3246A>C
n.3144A>C
n.2557A>C
n.2455A>C
 dbSNP
9g.114404005T=CA1873825896WHRNc.653A= (p.Glu218=)
c.2309A= (p.Glu770=)
c.1282A=
n.2190A=
c.1160A= (p.Glu387=)
c.1256A= (p.Glu419=)
c.2306A= (p.Glu769=)
c.1646A= (p.Glu549=)
c.2342A= (p.Glu781=)
c.2339A= (p.Glu780=)
c.2216A= (p.Glu739=)
c.2099A= (p.Glu700=)
c.1019A= (p.Glu340=)
n.3246A=
n.3144A=
n.2557A=
n.2455A=
9g.114404006C>ACA374619832WHRNc.652G>T (p.Glu218Ter)
c.2308G>T (p.Glu770Ter)
c.1281G>T
n.2189G>T
c.1159G>T (p.Glu387Ter)
c.1255G>T (p.Glu419Ter)
c.2305G>T (p.Glu769Ter)
c.1645G>T (p.Glu549Ter)
c.2341G>T (p.Glu781Ter)
c.2338G>T (p.Glu780Ter)
c.2215G>T (p.Glu739Ter)
c.2098G>T (p.Glu700Ter)
c.1018G>T (p.Glu340Ter)
n.3245G>T
n.3143G>T
n.2556G>T
n.2454G>T
9g.114404006C=CA1873825897WHRNc.652G= (p.Glu218=)
c.2308G= (p.Glu770=)
c.1281G=
n.2189G=
c.1159G= (p.Glu387=)
c.1255G= (p.Glu419=)
c.2305G= (p.Glu769=)
c.1645G= (p.Glu549=)
c.2341G= (p.Glu781=)
c.2338G= (p.Glu780=)
c.2215G= (p.Glu739=)
c.2098G= (p.Glu700=)
c.1018G= (p.Glu340=)
n.3245G=
n.3143G=
n.2556G=
n.2454G=
9g.114404006C>GCA374619833WHRNc.652G>C (p.Glu218Gln)
c.2308G>C (p.Glu770Gln)
c.1281G>C
n.2189G>C
c.1159G>C (p.Glu387Gln)
c.1255G>C (p.Glu419Gln)
c.2305G>C (p.Glu769Gln)
c.1645G>C (p.Glu549Gln)
c.2341G>C (p.Glu781Gln)
c.2338G>C (p.Glu780Gln)
c.2215G>C (p.Glu739Gln)
c.2098G>C (p.Glu700Gln)
c.1018G>C (p.Glu340Gln)
n.3245G>C
n.3143G>C
n.2556G>C
n.2454G>C
9g.114404006C>TCA5205669WHRNc.652G>A (p.Glu218Lys)
c.2308G>A (p.Glu770Lys)
c.1281G>A
n.2189G>A
c.1159G>A (p.Glu387Lys)
c.1255G>A (p.Glu419Lys)
c.2305G>A (p.Glu769Lys)
c.1645G>A (p.Glu549Lys)
c.2341G>A (p.Glu781Lys)
c.2338G>A (p.Glu780Lys)
c.2215G>A (p.Glu739Lys)
c.2098G>A (p.Glu700Lys)
c.1018G>A (p.Glu340Lys)
n.3245G>A
n.3143G>A
n.2556G>A
n.2454G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404007G>ACA5205670WHRNc.651C>T (p.Gly217=)
c.2307C>T (p.Gly769=)
c.1280C>T
n.2188C>T
c.1158C>T (p.Gly386=)
c.1254C>T (p.Gly418=)
c.2304C>T (p.Gly768=)
c.1644C>T (p.Gly548=)
c.2340C>T (p.Gly780=)
c.2337C>T (p.Gly779=)
c.2214C>T (p.Gly738=)
c.2097C>T (p.Gly699=)
c.1017C>T (p.Gly339=)
n.3244C>T
n.3142C>T
n.2555C>T
n.2453C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.114404007G>CCA466781975WHRNc.651C>G (p.Gly217=)
c.2307C>G (p.Gly769=)
c.1280C>G
n.2188C>G
c.1158C>G (p.Gly386=)
c.1254C>G (p.Gly418=)
c.2304C>G (p.Gly768=)
c.1644C>G (p.Gly548=)
c.2340C>G (p.Gly780=)
c.2337C>G (p.Gly779=)
c.2214C>G (p.Gly738=)
c.2097C>G (p.Gly699=)
c.1017C>G (p.Gly339=)
n.3244C>G
n.3142C>G
n.2555C>G
n.2453C>G
9g.114404007G=CA1873825898WHRNc.651C= (p.Gly217=)
c.2307C= (p.Gly769=)
c.1280C=
n.2188C=
c.1158C= (p.Gly386=)
c.1254C= (p.Gly418=)
c.2304C= (p.Gly768=)
c.1644C= (p.Gly548=)
c.2340C= (p.Gly780=)
c.2337C= (p.Gly779=)
c.2214C= (p.Gly738=)
c.2097C= (p.Gly699=)
c.1017C= (p.Gly339=)
n.3244C=
n.3142C=
n.2555C=
n.2453C=
9g.114404007G>TCA466781976WHRNc.651C>A (p.Gly217=)
c.2307C>A (p.Gly769=)
c.1280C>A
n.2188C>A
c.1158C>A (p.Gly386=)
c.1254C>A (p.Gly418=)
c.2304C>A (p.Gly768=)
c.1644C>A (p.Gly548=)
c.2340C>A (p.Gly780=)
c.2337C>A (p.Gly779=)
c.2214C>A (p.Gly738=)
c.2097C>A (p.Gly699=)
c.1017C>A (p.Gly339=)
n.3244C>A
n.3142C>A
n.2555C>A
n.2453C>A
 gnomAD v4
9g.114404008C>ACA374619835WHRNc.650G>T (p.Gly217Val)
c.2306G>T (p.Gly769Val)
c.1279G>T
n.2187G>T
c.1157G>T (p.Gly386Val)
c.1253G>T (p.Gly418Val)
c.2303G>T (p.Gly768Val)
c.1643G>T (p.Gly548Val)
c.2339G>T (p.Gly780Val)
c.2336G>T (p.Gly779Val)
c.2213G>T (p.Gly738Val)
c.2096G>T (p.Gly699Val)
c.1016G>T (p.Gly339Val)
n.3243G>T
n.3141G>T
n.2554G>T
n.2452G>T
9g.114404008C=CA1873825899WHRNc.650G= (p.Gly217=)
c.2306G= (p.Gly769=)
c.1279G=
n.2187G=
c.1157G= (p.Gly386=)
c.1253G= (p.Gly418=)
c.2303G= (p.Gly768=)
c.1643G= (p.Gly548=)
c.2339G= (p.Gly780=)
c.2336G= (p.Gly779=)
c.2213G= (p.Gly738=)
c.2096G= (p.Gly699=)
c.1016G= (p.Gly339=)
n.3243G=
n.3141G=
n.2554G=
n.2452G=
9g.114404008C>GCA374619836WHRNc.650G>C (p.Gly217Ala)
c.2306G>C (p.Gly769Ala)
c.1279G>C
n.2187G>C
c.1157G>C (p.Gly386Ala)
c.1253G>C (p.Gly418Ala)
c.2303G>C (p.Gly768Ala)
c.1643G>C (p.Gly548Ala)
c.2339G>C (p.Gly780Ala)
c.2336G>C (p.Gly779Ala)
c.2213G>C (p.Gly738Ala)
c.2096G>C (p.Gly699Ala)
c.1016G>C (p.Gly339Ala)
n.3243G>C
n.3141G>C
n.2554G>C
n.2452G>C
9g.114404008C>TCA374619838WHRNc.650G>A (p.Gly217Asp)
c.2306G>A (p.Gly769Asp)
c.1279G>A
n.2187G>A
c.1157G>A (p.Gly386Asp)
c.1253G>A (p.Gly418Asp)
c.2303G>A (p.Gly768Asp)
c.1643G>A (p.Gly548Asp)
c.2339G>A (p.Gly780Asp)
c.2336G>A (p.Gly779Asp)
c.2213G>A (p.Gly738Asp)
c.2096G>A (p.Gly699Asp)
c.1016G>A (p.Gly339Asp)
n.3243G>A
n.3141G>A
n.2554G>A
n.2452G>A
 dbSNP gnomAD v2
9g.114404009C>ACA374619840WHRNc.649G>T (p.Gly217Cys)
c.2305G>T (p.Gly769Cys)
c.1278G>T
n.2186G>T
c.1156G>T (p.Gly386Cys)
c.1252G>T (p.Gly418Cys)
c.2302G>T (p.Gly768Cys)
c.1642G>T (p.Gly548Cys)
c.2338G>T (p.Gly780Cys)
c.2335G>T (p.Gly779Cys)
c.2212G>T (p.Gly738Cys)
c.2095G>T (p.Gly699Cys)
c.1015G>T (p.Gly339Cys)
n.3242G>T
n.3140G>T
n.2553G>T
n.2451G>T
9g.114404009C>GCA374619841WHRNc.649G>C (p.Gly217Arg)
c.2305G>C (p.Gly769Arg)
c.1278G>C
n.2186G>C
c.1156G>C (p.Gly386Arg)
c.1252G>C (p.Gly418Arg)
c.2302G>C (p.Gly768Arg)
c.1642G>C (p.Gly548Arg)
c.2338G>C (p.Gly780Arg)
c.2335G>C (p.Gly779Arg)
c.2212G>C (p.Gly738Arg)
c.2095G>C (p.Gly699Arg)
c.1015G>C (p.Gly339Arg)
n.3242G>C
n.3140G>C
n.2553G>C
n.2451G>C
9g.114404009C>TCA374619843WHRNc.649G>A (p.Gly217Ser)
c.2305G>A (p.Gly769Ser)
c.1278G>A
n.2186G>A
c.1156G>A (p.Gly386Ser)
c.1252G>A (p.Gly418Ser)
c.2302G>A (p.Gly768Ser)
c.1642G>A (p.Gly548Ser)
c.2338G>A (p.Gly780Ser)
c.2335G>A (p.Gly779Ser)
c.2212G>A (p.Gly738Ser)
c.2095G>A (p.Gly699Ser)
c.1015G>A (p.Gly339Ser)
n.3242G>A
n.3140G>A
n.2553G>A
n.2451G>A
9g.114404010A=CA1873825900WHRNc.648T= (p.Ala216=)
c.2304T= (p.Ala768=)
c.1277T=
n.2185T=
c.1155T= (p.Ala385=)
c.1251T= (p.Ala417=)
c.2301T= (p.Ala767=)
c.1641T= (p.Ala547=)
c.2337T= (p.Ala779=)
c.2334T= (p.Ala778=)
c.2211T= (p.Ala737=)
c.2094T= (p.Ala698=)
c.1014T= (p.Ala338=)
n.3241T=
n.3139T=
n.2552T=
n.2450T=
9g.114404010A>CCA466781977WHRNc.648T>G (p.Ala216=)
c.2304T>G (p.Ala768=)
c.1277T>G
n.2185T>G
c.1155T>G (p.Ala385=)
c.1251T>G (p.Ala417=)
c.2301T>G (p.Ala767=)
c.1641T>G (p.Ala547=)
c.2337T>G (p.Ala779=)
c.2334T>G (p.Ala778=)
c.2211T>G (p.Ala737=)
c.2094T>G (p.Ala698=)
c.1014T>G (p.Ala338=)
n.3241T>G
n.3139T>G
n.2552T>G
n.2450T>G
9g.114404010A>GCA5205671WHRNc.648T>C (p.Ala216=)
c.2304T>C (p.Ala768=)
c.1277T>C
n.2185T>C
c.1155T>C (p.Ala385=)
c.1251T>C (p.Ala417=)
c.2301T>C (p.Ala767=)
c.1641T>C (p.Ala547=)
c.2337T>C (p.Ala779=)
c.2334T>C (p.Ala778=)
c.2211T>C (p.Ala737=)
c.2094T>C (p.Ala698=)
c.1014T>C (p.Ala338=)
n.3241T>C
n.3139T>C
n.2552T>C
n.2450T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404010A>TCA466781979WHRNc.648T>A (p.Ala216=)
c.2304T>A (p.Ala768=)
c.1277T>A
n.2185T>A
c.1155T>A (p.Ala385=)
c.1251T>A (p.Ala417=)
c.2301T>A (p.Ala767=)
c.1641T>A (p.Ala547=)
c.2337T>A (p.Ala779=)
c.2334T>A (p.Ala778=)
c.2211T>A (p.Ala737=)
c.2094T>A (p.Ala698=)
c.1014T>A (p.Ala338=)
n.3241T>A
n.3139T>A
n.2552T>A
n.2450T>A
9g.114404011G>ACA374619845WHRNc.647C>T (p.Ala216Val)
c.2303C>T (p.Ala768Val)
c.1276C>T
n.2184C>T
c.1154C>T (p.Ala385Val)
c.1250C>T (p.Ala417Val)
c.2300C>T (p.Ala767Val)
c.1640C>T (p.Ala547Val)
c.2336C>T (p.Ala779Val)
c.2333C>T (p.Ala778Val)
c.2210C>T (p.Ala737Val)
c.2093C>T (p.Ala698Val)
c.1013C>T (p.Ala338Val)
n.3240C>T
n.3138C>T
n.2551C>T
n.2449C>T
9g.114404011G>CCA374619846WHRNc.647C>G (p.Ala216Gly)
c.2303C>G (p.Ala768Gly)
c.1276C>G
n.2184C>G
c.1154C>G (p.Ala385Gly)
c.1250C>G (p.Ala417Gly)
c.2300C>G (p.Ala767Gly)
c.1640C>G (p.Ala547Gly)
c.2336C>G (p.Ala779Gly)
c.2333C>G (p.Ala778Gly)
c.2210C>G (p.Ala737Gly)
c.2093C>G (p.Ala698Gly)
c.1013C>G (p.Ala338Gly)
n.3240C>G
n.3138C>G
n.2551C>G
n.2449C>G
 gnomAD v4
9g.114404011G>TCA374619848WHRNc.647C>A (p.Ala216Asp)
c.2303C>A (p.Ala768Asp)
c.1276C>A
n.2184C>A
c.1154C>A (p.Ala385Asp)
c.1250C>A (p.Ala417Asp)
c.2300C>A (p.Ala767Asp)
c.1640C>A (p.Ala547Asp)
c.2336C>A (p.Ala779Asp)
c.2333C>A (p.Ala778Asp)
c.2210C>A (p.Ala737Asp)
c.2093C>A (p.Ala698Asp)
c.1013C>A (p.Ala338Asp)
n.3240C>A
n.3138C>A
n.2551C>A
n.2449C>A
 gnomAD v4
9g.114404012C>ACA374619851WHRNc.646G>T (p.Ala216Ser)
c.2302G>T (p.Ala768Ser)
c.1275G>T
n.2183G>T
c.1153G>T (p.Ala385Ser)
c.1249G>T (p.Ala417Ser)
c.2299G>T (p.Ala767Ser)
c.1639G>T (p.Ala547Ser)
c.2335G>T (p.Ala779Ser)
c.2332G>T (p.Ala778Ser)
c.2209G>T (p.Ala737Ser)
c.2092G>T (p.Ala698Ser)
c.1012G>T (p.Ala338Ser)
n.3239G>T
n.3137G>T
n.2550G>T
n.2448G>T
9g.114404012C=CA1873825901WHRNc.646G= (p.Ala216=)
c.2302G= (p.Ala768=)
c.1275G=
n.2183G=
c.1153G= (p.Ala385=)
c.1249G= (p.Ala417=)
c.2299G= (p.Ala767=)
c.1639G= (p.Ala547=)
c.2335G= (p.Ala779=)
c.2332G= (p.Ala778=)
c.2209G= (p.Ala737=)
c.2092G= (p.Ala698=)
c.1012G= (p.Ala338=)
n.3239G=
n.3137G=
n.2550G=
n.2448G=
9g.114404012C>GCA374619852WHRNc.646G>C (p.Ala216Pro)
c.2302G>C (p.Ala768Pro)
c.1275G>C
n.2183G>C
c.1153G>C (p.Ala385Pro)
c.1249G>C (p.Ala417Pro)
c.2299G>C (p.Ala767Pro)
c.1639G>C (p.Ala547Pro)
c.2335G>C (p.Ala779Pro)
c.2332G>C (p.Ala778Pro)
c.2209G>C (p.Ala737Pro)
c.2092G>C (p.Ala698Pro)
c.1012G>C (p.Ala338Pro)
n.3239G>C
n.3137G>C
n.2550G>C
n.2448G>C
9g.114404012C>TCA374619849WHRNc.646G>A (p.Ala216Thr)
c.2302G>A (p.Ala768Thr)
c.1275G>A
n.2183G>A
c.1153G>A (p.Ala385Thr)
c.1249G>A (p.Ala417Thr)
c.2299G>A (p.Ala767Thr)
c.1639G>A (p.Ala547Thr)
c.2335G>A (p.Ala779Thr)
c.2332G>A (p.Ala778Thr)
c.2209G>A (p.Ala737Thr)
c.2092G>A (p.Ala698Thr)
c.1012G>A (p.Ala338Thr)
n.3239G>A
n.3137G>A
n.2550G>A
n.2448G>A
 dbSNP
9g.114404013A>CCA374619854WHRNc.645T>G (p.Asp215Glu)
c.2301T>G (p.Asp767Glu)
c.1274T>G
n.2182T>G
c.1152T>G (p.Asp384Glu)
c.1248T>G (p.Asp416Glu)
c.2298T>G (p.Asp766Glu)
c.1638T>G (p.Asp546Glu)
c.2334T>G (p.Asp778Glu)
c.2331T>G (p.Asp777Glu)
c.2208T>G (p.Asp736Glu)
c.2091T>G (p.Asp697Glu)
c.1011T>G (p.Asp337Glu)
n.3238T>G
n.3136T>G
n.2549T>G
n.2447T>G
9g.114404013A>GCA466781980WHRNc.645T>C (p.Asp215=)
c.2301T>C (p.Asp767=)
c.1274T>C
n.2182T>C
c.1152T>C (p.Asp384=)
c.1248T>C (p.Asp416=)
c.2298T>C (p.Asp766=)
c.1638T>C (p.Asp546=)
c.2334T>C (p.Asp778=)
c.2331T>C (p.Asp777=)
c.2208T>C (p.Asp736=)
c.2091T>C (p.Asp697=)
c.1011T>C (p.Asp337=)
n.3238T>C
n.3136T>C
n.2549T>C
n.2447T>C
9g.114404013A>TCA374619855WHRNc.645T>A (p.Asp215Glu)
c.2301T>A (p.Asp767Glu)
c.1274T>A
n.2182T>A
c.1152T>A (p.Asp384Glu)
c.1248T>A (p.Asp416Glu)
c.2298T>A (p.Asp766Glu)
c.1638T>A (p.Asp546Glu)
c.2334T>A (p.Asp778Glu)
c.2331T>A (p.Asp777Glu)
c.2208T>A (p.Asp736Glu)
c.2091T>A (p.Asp697Glu)
c.1011T>A (p.Asp337Glu)
n.3238T>A
n.3136T>A
n.2549T>A
n.2447T>A
9g.114404014T>ACA5205672WHRNc.644A>T (p.Asp215Val)
c.2300A>T (p.Asp767Val)
c.1273A>T
n.2181A>T
c.1151A>T (p.Asp384Val)
c.1247A>T (p.Asp416Val)
c.2297A>T (p.Asp766Val)
c.1637A>T (p.Asp546Val)
c.2333A>T (p.Asp778Val)
c.2330A>T (p.Asp777Val)
c.2207A>T (p.Asp736Val)
c.2090A>T (p.Asp697Val)
c.1010A>T (p.Asp337Val)
n.3237A>T
n.3135A>T
n.2548A>T
n.2446A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114404014T>CCA374619857WHRNc.644A>G (p.Asp215Gly)
c.2300A>G (p.Asp767Gly)
c.1273A>G
n.2181A>G
c.1151A>G (p.Asp384Gly)
c.1247A>G (p.Asp416Gly)
c.2297A>G (p.Asp766Gly)
c.1637A>G (p.Asp546Gly)
c.2333A>G (p.Asp778Gly)
c.2330A>G (p.Asp777Gly)
c.2207A>G (p.Asp736Gly)
c.2090A>G (p.Asp697Gly)
c.1010A>G (p.Asp337Gly)
n.3237A>G
n.3135A>G
n.2548A>G
n.2446A>G
 gnomAD v4
9g.114404014T>GCA374619858WHRNc.644A>C (p.Asp215Ala)
c.2300A>C (p.Asp767Ala)
c.1273A>C
n.2181A>C
c.1151A>C (p.Asp384Ala)
c.1247A>C (p.Asp416Ala)
c.2297A>C (p.Asp766Ala)
c.1637A>C (p.Asp546Ala)
c.2333A>C (p.Asp778Ala)
c.2330A>C (p.Asp777Ala)
c.2207A>C (p.Asp736Ala)
c.2090A>C (p.Asp697Ala)
c.1010A>C (p.Asp337Ala)
n.3237A>C
n.3135A>C
n.2548A>C
n.2446A>C
9g.114404014T=CA1873825902WHRNc.644A= (p.Asp215=)
c.2300A= (p.Asp767=)
c.1273A=
n.2181A=
c.1151A= (p.Asp384=)
c.1247A= (p.Asp416=)
c.2297A= (p.Asp766=)
c.1637A= (p.Asp546=)
c.2333A= (p.Asp778=)
c.2330A= (p.Asp777=)
c.2207A= (p.Asp736=)
c.2090A= (p.Asp697=)
c.1010A= (p.Asp337=)
n.3237A=
n.3135A=
n.2548A=
n.2446A=
9g.114404015C>ACA5205673WHRNc.643G>T (p.Asp215Tyr)
c.2299G>T (p.Asp767Tyr)
c.1272G>T
n.2180G>T
c.1150G>T (p.Asp384Tyr)
c.1246G>T (p.Asp416Tyr)
c.2296G>T (p.Asp766Tyr)
c.1636G>T (p.Asp546Tyr)
c.2332G>T (p.Asp778Tyr)
c.2329G>T (p.Asp777Tyr)
c.2206G>T (p.Asp736Tyr)
c.2089G>T (p.Asp697Tyr)
c.1009G>T (p.Asp337Tyr)
n.3236G>T
n.3134G>T
n.2547G>T
n.2445G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404015C=CA1873825903WHRNc.643G= (p.Asp215=)
c.2299G= (p.Asp767=)
c.1272G=
n.2180G=
c.1150G= (p.Asp384=)
c.1246G= (p.Asp416=)
c.2296G= (p.Asp766=)
c.1636G= (p.Asp546=)
c.2332G= (p.Asp778=)
c.2329G= (p.Asp777=)
c.2206G= (p.Asp736=)
c.2089G= (p.Asp697=)
c.1009G= (p.Asp337=)
n.3236G=
n.3134G=
n.2547G=
n.2445G=
9g.114404015C>GCA374619861WHRNc.643G>C (p.Asp215His)
c.2299G>C (p.Asp767His)
c.1272G>C
n.2180G>C
c.1150G>C (p.Asp384His)
c.1246G>C (p.Asp416His)
c.2296G>C (p.Asp766His)
c.1636G>C (p.Asp546His)
c.2332G>C (p.Asp778His)
c.2329G>C (p.Asp777His)
c.2206G>C (p.Asp736His)
c.2089G>C (p.Asp697His)
c.1009G>C (p.Asp337His)
n.3236G>C
n.3134G>C
n.2547G>C
n.2445G>C
 dbSNP
9g.114404015C>TCA374619860WHRNc.643G>A (p.Asp215Asn)
c.2299G>A (p.Asp767Asn)
c.1272G>A
n.2180G>A
c.1150G>A (p.Asp384Asn)
c.1246G>A (p.Asp416Asn)
c.2296G>A (p.Asp766Asn)
c.1636G>A (p.Asp546Asn)
c.2332G>A (p.Asp778Asn)
c.2329G>A (p.Asp777Asn)
c.2206G>A (p.Asp736Asn)
c.2089G>A (p.Asp697Asn)
c.1009G>A (p.Asp337Asn)
n.3236G>A
n.3134G>A
n.2547G>A
n.2445G>A
9g.114404016C>ACA466781984WHRNc.642G>T (p.Val214=)
c.2298G>T (p.Val766=)
c.1271G>T
n.2179G>T
c.1149G>T (p.Val383=)
c.1245G>T (p.Val415=)
c.2295G>T (p.Val765=)
c.1635G>T (p.Val545=)
c.2331G>T (p.Val777=)
c.2328G>T (p.Val776=)
c.2205G>T (p.Val735=)
c.2088G>T (p.Val696=)
c.1008G>T (p.Val336=)
n.3235G>T
n.3133G>T
n.2546G>T
n.2444G>T
9g.114404016C=CA1873825904WHRNc.642G= (p.Val214=)
c.2298G= (p.Val766=)
c.1271G=
n.2179G=
c.1149G= (p.Val383=)
c.1245G= (p.Val415=)
c.2295G= (p.Val765=)
c.1635G= (p.Val545=)
c.2331G= (p.Val777=)
c.2328G= (p.Val776=)
c.2205G= (p.Val735=)
c.2088G= (p.Val696=)
c.1008G= (p.Val336=)
n.3235G=
n.3133G=
n.2546G=
n.2444G=
9g.114404016C>GCA466781985WHRNc.642G>C (p.Val214=)
c.2298G>C (p.Val766=)
c.1271G>C
n.2179G>C
c.1149G>C (p.Val383=)
c.1245G>C (p.Val415=)
c.2295G>C (p.Val765=)
c.1635G>C (p.Val545=)
c.2331G>C (p.Val777=)
c.2328G>C (p.Val776=)
c.2205G>C (p.Val735=)
c.2088G>C (p.Val696=)
c.1008G>C (p.Val336=)
n.3235G>C
n.3133G>C
n.2546G>C
n.2444G>C
9g.114404016C>TCA466781986WHRNc.642G>A (p.Val214=)
c.2298G>A (p.Val766=)
c.1271G>A
n.2179G>A
c.1149G>A (p.Val383=)
c.1245G>A (p.Val415=)
c.2295G>A (p.Val765=)
c.1635G>A (p.Val545=)
c.2331G>A (p.Val777=)
c.2328G>A (p.Val776=)
c.2205G>A (p.Val735=)
c.2088G>A (p.Val696=)
c.1008G>A (p.Val336=)
n.3235G>A
n.3133G>A
n.2546G>A
n.2444G>A
 dbSNP gnomAD v2
9g.114404017A>CCA374619864WHRNc.641T>G (p.Val214Gly)
c.2297T>G (p.Val766Gly)
c.1270T>G
n.2178T>G
c.1148T>G (p.Val383Gly)
c.1244T>G (p.Val415Gly)
c.2294T>G (p.Val765Gly)
c.1634T>G (p.Val545Gly)
c.2330T>G (p.Val777Gly)
c.2327T>G (p.Val776Gly)
c.2204T>G (p.Val735Gly)
c.2087T>G (p.Val696Gly)
c.1007T>G (p.Val336Gly)
n.3234T>G
n.3132T>G
n.2545T>G
n.2443T>G
9g.114404017A>GCA374619866WHRNc.641T>C (p.Val214Ala)
c.2297T>C (p.Val766Ala)
c.1270T>C
n.2178T>C
c.1148T>C (p.Val383Ala)
c.1244T>C (p.Val415Ala)
c.2294T>C (p.Val765Ala)
c.1634T>C (p.Val545Ala)
c.2330T>C (p.Val777Ala)
c.2327T>C (p.Val776Ala)
c.2204T>C (p.Val735Ala)
c.2087T>C (p.Val696Ala)
c.1007T>C (p.Val336Ala)
n.3234T>C
n.3132T>C
n.2545T>C
n.2443T>C
9g.114404017A>TCA374619867WHRNc.641T>A (p.Val214Glu)
c.2297T>A (p.Val766Glu)
c.1270T>A
n.2178T>A
c.1148T>A (p.Val383Glu)
c.1244T>A (p.Val415Glu)
c.2294T>A (p.Val765Glu)
c.1634T>A (p.Val545Glu)
c.2330T>A (p.Val777Glu)
c.2327T>A (p.Val776Glu)
c.2204T>A (p.Val735Glu)
c.2087T>A (p.Val696Glu)
c.1007T>A (p.Val336Glu)
n.3234T>A
n.3132T>A
n.2545T>A
n.2443T>A
9g.114404018C>ACA374619868WHRNc.640G>T (p.Val214Leu)
c.2296G>T (p.Val766Leu)
c.1269G>T
n.2177G>T
c.1147G>T (p.Val383Leu)
c.1243G>T (p.Val415Leu)
c.2293G>T (p.Val765Leu)
c.1633G>T (p.Val545Leu)
c.2329G>T (p.Val777Leu)
c.2326G>T (p.Val776Leu)
c.2203G>T (p.Val735Leu)
c.2086G>T (p.Val696Leu)
c.1006G>T (p.Val336Leu)
n.3233G>T
n.3131G>T
n.2544G>T
n.2442G>T
 gnomAD v4
9g.114404018C=CA1873825905WHRNc.640G= (p.Val214=)
c.2296G= (p.Val766=)
c.1269G=
n.2177G=
c.1147G= (p.Val383=)
c.1243G= (p.Val415=)
c.2293G= (p.Val765=)
c.1633G= (p.Val545=)
c.2329G= (p.Val777=)
c.2326G= (p.Val776=)
c.2203G= (p.Val735=)
c.2086G= (p.Val696=)
c.1006G= (p.Val336=)
n.3233G=
n.3131G=
n.2544G=
n.2442G=
9g.114404018C>GCA374619870WHRNc.640G>C (p.Val214Leu)
c.2296G>C (p.Val766Leu)
c.1269G>C
n.2177G>C
c.1147G>C (p.Val383Leu)
c.1243G>C (p.Val415Leu)
c.2293G>C (p.Val765Leu)
c.1633G>C (p.Val545Leu)
c.2329G>C (p.Val777Leu)
c.2326G>C (p.Val776Leu)
c.2203G>C (p.Val735Leu)
c.2086G>C (p.Val696Leu)
c.1006G>C (p.Val336Leu)
n.3233G>C
n.3131G>C
n.2544G>C
n.2442G>C
9g.114404018C>TCA5205674WHRNc.640G>A (p.Val214Met)
c.2296G>A (p.Val766Met)
c.1269G>A
n.2177G>A
c.1147G>A (p.Val383Met)
c.1243G>A (p.Val415Met)
c.2293G>A (p.Val765Met)
c.1633G>A (p.Val545Met)
c.2329G>A (p.Val777Met)
c.2326G>A (p.Val776Met)
c.2203G>A (p.Val735Met)
c.2086G>A (p.Val696Met)
c.1006G>A (p.Val336Met)
n.3233G>A
n.3131G>A
n.2544G>A
n.2442G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404019A>CCA466781988WHRNc.639T>G (p.Gly213=)
c.2295T>G (p.Gly765=)
c.1268T>G
n.2176T>G
c.1146T>G (p.Gly382=)
c.1242T>G (p.Gly414=)
c.2292T>G (p.Gly764=)
c.1632T>G (p.Gly544=)
c.2328T>G (p.Gly776=)
c.2325T>G (p.Gly775=)
c.2202T>G (p.Gly734=)
c.2085T>G (p.Gly695=)
c.1005T>G (p.Gly335=)
n.3232T>G
n.3130T>G
n.2543T>G
n.2441T>G
9g.114404019A>GCA466781990WHRNc.639T>C (p.Gly213=)
c.2295T>C (p.Gly765=)
c.1268T>C
n.2176T>C
c.1146T>C (p.Gly382=)
c.1242T>C (p.Gly414=)
c.2292T>C (p.Gly764=)
c.1632T>C (p.Gly544=)
c.2328T>C (p.Gly776=)
c.2325T>C (p.Gly775=)
c.2202T>C (p.Gly734=)
c.2085T>C (p.Gly695=)
c.1005T>C (p.Gly335=)
n.3232T>C
n.3130T>C
n.2543T>C
n.2441T>C
9g.114404019A>TCA466781992WHRNc.639T>A (p.Gly213=)
c.2295T>A (p.Gly765=)
c.1268T>A
n.2176T>A
c.1146T>A (p.Gly382=)
c.1242T>A (p.Gly414=)
c.2292T>A (p.Gly764=)
c.1632T>A (p.Gly544=)
c.2328T>A (p.Gly776=)
c.2325T>A (p.Gly775=)
c.2202T>A (p.Gly734=)
c.2085T>A (p.Gly695=)
c.1005T>A (p.Gly335=)
n.3232T>A
n.3130T>A
n.2543T>A
n.2441T>A
9g.114404020C>ACA374619873WHRNc.638G>T (p.Gly213Val)
c.2294G>T (p.Gly765Val)
c.1267G>T
n.2175G>T
c.1145G>T (p.Gly382Val)
c.1241G>T (p.Gly414Val)
c.2291G>T (p.Gly764Val)
c.1631G>T (p.Gly544Val)
c.2327G>T (p.Gly776Val)
c.2324G>T (p.Gly775Val)
c.2201G>T (p.Gly734Val)
c.2084G>T (p.Gly695Val)
c.1004G>T (p.Gly335Val)
n.3231G>T
n.3129G>T
n.2542G>T
n.2440G>T
9g.114404020C>GCA374619875WHRNc.638G>C (p.Gly213Ala)
c.2294G>C (p.Gly765Ala)
c.1267G>C
n.2175G>C
c.1145G>C (p.Gly382Ala)
c.1241G>C (p.Gly414Ala)
c.2291G>C (p.Gly764Ala)
c.1631G>C (p.Gly544Ala)
c.2327G>C (p.Gly776Ala)
c.2324G>C (p.Gly775Ala)
c.2201G>C (p.Gly734Ala)
c.2084G>C (p.Gly695Ala)
c.1004G>C (p.Gly335Ala)
n.3231G>C
n.3129G>C
n.2542G>C
n.2440G>C
9g.114404020C>TCA374619874WHRNc.638G>A (p.Gly213Asp)
c.2294G>A (p.Gly765Asp)
c.1267G>A
n.2175G>A
c.1145G>A (p.Gly382Asp)
c.1241G>A (p.Gly414Asp)
c.2291G>A (p.Gly764Asp)
c.1631G>A (p.Gly544Asp)
c.2327G>A (p.Gly776Asp)
c.2324G>A (p.Gly775Asp)
c.2201G>A (p.Gly734Asp)
c.2084G>A (p.Gly695Asp)
c.1004G>A (p.Gly335Asp)
n.3231G>A
n.3129G>A
n.2542G>A
n.2440G>A
9g.114404021C>ACA374619877WHRNc.637G>T (p.Gly213Cys)
c.2293G>T (p.Gly765Cys)
c.1266G>T
n.2174G>T
c.1144G>T (p.Gly382Cys)
c.1240G>T (p.Gly414Cys)
c.2290G>T (p.Gly764Cys)
c.1630G>T (p.Gly544Cys)
c.2326G>T (p.Gly776Cys)
c.2323G>T (p.Gly775Cys)
c.2200G>T (p.Gly734Cys)
c.2083G>T (p.Gly695Cys)
c.1003G>T (p.Gly335Cys)
n.3230G>T
n.3128G>T
n.2541G>T
n.2439G>T
9g.114404021C=CA1873825906WHRNc.637G= (p.Gly213=)
c.2293G= (p.Gly765=)
c.1266G=
n.2174G=
c.1144G= (p.Gly382=)
c.1240G= (p.Gly414=)
c.2290G= (p.Gly764=)
c.1630G= (p.Gly544=)
c.2326G= (p.Gly776=)
c.2323G= (p.Gly775=)
c.2200G= (p.Gly734=)
c.2083G= (p.Gly695=)
c.1003G= (p.Gly335=)
n.3230G=
n.3128G=
n.2541G=
n.2439G=
9g.114404021C>GCA136908WHRNc.637G>C (p.Gly213Arg)
c.2293G>C (p.Gly765Arg)
c.1266G>C
n.2174G>C
c.1144G>C (p.Gly382Arg)
c.1240G>C (p.Gly414Arg)
c.2290G>C (p.Gly764Arg)
c.1630G>C (p.Gly544Arg)
c.2326G>C (p.Gly776Arg)
c.2323G>C (p.Gly775Arg)
c.2200G>C (p.Gly734Arg)
c.2083G>C (p.Gly695Arg)
c.1003G>C (p.Gly335Arg)
n.3230G>C
n.3128G>C
n.2541G>C
n.2439G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404021C>TCA374619879WHRNc.637G>A (p.Gly213Ser)
c.2293G>A (p.Gly765Ser)
c.1266G>A
n.2174G>A
c.1144G>A (p.Gly382Ser)
c.1240G>A (p.Gly414Ser)
c.2290G>A (p.Gly764Ser)
c.1630G>A (p.Gly544Ser)
c.2326G>A (p.Gly776Ser)
c.2323G>A (p.Gly775Ser)
c.2200G>A (p.Gly734Ser)
c.2083G>A (p.Gly695Ser)
c.1003G>A (p.Gly335Ser)
n.3230G>A
n.3128G>A
n.2541G>A
n.2439G>A
9g.114404022A>CCA374619881WHRNc.636T>G (p.Ser212Arg)
c.2292T>G (p.Ser764Arg)
c.1265T>G
n.2173T>G
c.1143T>G (p.Ser381Arg)
c.1239T>G (p.Ser413Arg)
c.2289T>G (p.Ser763Arg)
c.1629T>G (p.Ser543Arg)
c.2325T>G (p.Ser775Arg)
c.2322T>G (p.Ser774Arg)
c.2199T>G (p.Ser733Arg)
c.2082T>G (p.Ser694Arg)
c.1002T>G (p.Ser334Arg)
n.3229T>G
n.3127T>G
n.2540T>G
n.2438T>G
9g.114404022A>GCA466781993WHRNc.636T>C (p.Ser212=)
c.2292T>C (p.Ser764=)
c.1265T>C
n.2173T>C
c.1143T>C (p.Ser381=)
c.1239T>C (p.Ser413=)
c.2289T>C (p.Ser763=)
c.1629T>C (p.Ser543=)
c.2325T>C (p.Ser775=)
c.2322T>C (p.Ser774=)
c.2199T>C (p.Ser733=)
c.2082T>C (p.Ser694=)
c.1002T>C (p.Ser334=)
n.3229T>C
n.3127T>C
n.2540T>C
n.2438T>C
9g.114404022A>TCA374619882WHRNc.636T>A (p.Ser212Arg)
c.2292T>A (p.Ser764Arg)
c.1265T>A
n.2173T>A
c.1143T>A (p.Ser381Arg)
c.1239T>A (p.Ser413Arg)
c.2289T>A (p.Ser763Arg)
c.1629T>A (p.Ser543Arg)
c.2325T>A (p.Ser775Arg)
c.2322T>A (p.Ser774Arg)
c.2199T>A (p.Ser733Arg)
c.2082T>A (p.Ser694Arg)
c.1002T>A (p.Ser334Arg)
n.3229T>A
n.3127T>A
n.2540T>A
n.2438T>A
 gnomAD v4
9g.114404023C>ACA374619884WHRNc.635G>T (p.Ser212Ile)
c.2291G>T (p.Ser764Ile)
c.1264G>T
n.2172G>T
c.1142G>T (p.Ser381Ile)
c.1238G>T (p.Ser413Ile)
c.2288G>T (p.Ser763Ile)
c.1628G>T (p.Ser543Ile)
c.2324G>T (p.Ser775Ile)
c.2321G>T (p.Ser774Ile)
c.2198G>T (p.Ser733Ile)
c.2081G>T (p.Ser694Ile)
c.1001G>T (p.Ser334Ile)
n.3228G>T
n.3126G>T
n.2539G>T
n.2437G>T
9g.114404023C=CA1873825907WHRNc.635G= (p.Ser212=)
c.2291G= (p.Ser764=)
c.1264G=
n.2172G=
c.1142G= (p.Ser381=)
c.1238G= (p.Ser413=)
c.2288G= (p.Ser763=)
c.1628G= (p.Ser543=)
c.2324G= (p.Ser775=)
c.2321G= (p.Ser774=)
c.2198G= (p.Ser733=)
c.2081G= (p.Ser694=)
c.1001G= (p.Ser334=)
n.3228G=
n.3126G=
n.2539G=
n.2437G=
9g.114404023C>GCA374619886WHRNc.635G>C (p.Ser212Thr)
c.2291G>C (p.Ser764Thr)
c.1264G>C
n.2172G>C
c.1142G>C (p.Ser381Thr)
c.1238G>C (p.Ser413Thr)
c.2288G>C (p.Ser763Thr)
c.1628G>C (p.Ser543Thr)
c.2324G>C (p.Ser775Thr)
c.2321G>C (p.Ser774Thr)
c.2198G>C (p.Ser733Thr)
c.2081G>C (p.Ser694Thr)
c.1001G>C (p.Ser334Thr)
n.3228G>C
n.3126G>C
n.2539G>C
n.2437G>C
9g.114404023C>TCA374619887WHRNc.635G>A (p.Ser212Asn)
c.2291G>A (p.Ser764Asn)
c.1264G>A
n.2172G>A
c.1142G>A (p.Ser381Asn)
c.1238G>A (p.Ser413Asn)
c.2288G>A (p.Ser763Asn)
c.1628G>A (p.Ser543Asn)
c.2324G>A (p.Ser775Asn)
c.2321G>A (p.Ser774Asn)
c.2198G>A (p.Ser733Asn)
c.2081G>A (p.Ser694Asn)
c.1001G>A (p.Ser334Asn)
n.3228G>A
n.3126G>A
n.2539G>A
n.2437G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.114404024T>ACA374619889WHRNc.634A>T (p.Ser212Cys)
c.2290A>T (p.Ser764Cys)
c.1263A>T
n.2171A>T
c.1141A>T (p.Ser381Cys)
c.1237A>T (p.Ser413Cys)
c.2287A>T (p.Ser763Cys)
c.1627A>T (p.Ser543Cys)
c.2323A>T (p.Ser775Cys)
c.2320A>T (p.Ser774Cys)
c.2197A>T (p.Ser733Cys)
c.2080A>T (p.Ser694Cys)
c.1000A>T (p.Ser334Cys)
n.3227A>T
n.3125A>T
n.2538A>T
n.2436A>T
9g.114404024T>CCA374619890WHRNc.634A>G (p.Ser212Gly)
c.2290A>G (p.Ser764Gly)
c.1263A>G
n.2171A>G
c.1141A>G (p.Ser381Gly)
c.1237A>G (p.Ser413Gly)
c.2287A>G (p.Ser763Gly)
c.1627A>G (p.Ser543Gly)
c.2323A>G (p.Ser775Gly)
c.2320A>G (p.Ser774Gly)
c.2197A>G (p.Ser733Gly)
c.2080A>G (p.Ser694Gly)
c.1000A>G (p.Ser334Gly)
n.3227A>G
n.3125A>G
n.2538A>G
n.2436A>G
 ClinVar dbSNP gnomAD v4
9g.114404024T>GCA374619892WHRNc.634A>C (p.Ser212Arg)
c.2290A>C (p.Ser764Arg)
c.1263A>C
n.2171A>C
c.1141A>C (p.Ser381Arg)
c.1237A>C (p.Ser413Arg)
c.2287A>C (p.Ser763Arg)
c.1627A>C (p.Ser543Arg)
c.2323A>C (p.Ser775Arg)
c.2320A>C (p.Ser774Arg)
c.2197A>C (p.Ser733Arg)
c.2080A>C (p.Ser694Arg)
c.1000A>C (p.Ser334Arg)
n.3227A>C
n.3125A>C
n.2538A>C
n.2436A>C
9g.114404024T=CA1873825908WHRNc.634A= (p.Ser212=)
c.2290A= (p.Ser764=)
c.1263A=
n.2171A=
c.1141A= (p.Ser381=)
c.1237A= (p.Ser413=)
c.2287A= (p.Ser763=)
c.1627A= (p.Ser543=)
c.2323A= (p.Ser775=)
c.2320A= (p.Ser774=)
c.2197A= (p.Ser733=)
c.2080A= (p.Ser694=)
c.1000A= (p.Ser334=)
n.3227A=
n.3125A=
n.2538A=
n.2436A=
9g.114404025G>ACA466781996WHRNc.633C>T (p.Asp211=)
c.2289C>T (p.Asp763=)
c.1262C>T
n.2170C>T
c.1140C>T (p.Asp380=)
c.1236C>T (p.Asp412=)
c.2286C>T (p.Asp762=)
c.1626C>T (p.Asp542=)
c.2322C>T (p.Asp774=)
c.2319C>T (p.Asp773=)
c.2196C>T (p.Asp732=)
c.2079C>T (p.Asp693=)
c.999C>T (p.Asp333=)
n.3226C>T
n.3124C>T
n.2537C>T
n.2435C>T
9g.114404025G>CCA374619894WHRNc.633C>G (p.Asp211Glu)
c.2289C>G (p.Asp763Glu)
c.1262C>G
n.2170C>G
c.1140C>G (p.Asp380Glu)
c.1236C>G (p.Asp412Glu)
c.2286C>G (p.Asp762Glu)
c.1626C>G (p.Asp542Glu)
c.2322C>G (p.Asp774Glu)
c.2319C>G (p.Asp773Glu)
c.2196C>G (p.Asp732Glu)
c.2079C>G (p.Asp693Glu)
c.999C>G (p.Asp333Glu)
n.3226C>G
n.3124C>G
n.2537C>G
n.2435C>G
9g.114404025G>TCA374619896WHRNc.633C>A (p.Asp211Glu)
c.2289C>A (p.Asp763Glu)
c.1262C>A
n.2170C>A
c.1140C>A (p.Asp380Glu)
c.1236C>A (p.Asp412Glu)
c.2286C>A (p.Asp762Glu)
c.1626C>A (p.Asp542Glu)
c.2322C>A (p.Asp774Glu)
c.2319C>A (p.Asp773Glu)
c.2196C>A (p.Asp732Glu)
c.2079C>A (p.Asp693Glu)
c.999C>A (p.Asp333Glu)
n.3226C>A
n.3124C>A
n.2537C>A
n.2435C>A
 gnomAD v4
9g.114404026T>ACA374619897WHRNc.632A>T (p.Asp211Val)
c.2288A>T (p.Asp763Val)
c.1261A>T
n.2169A>T
c.1139A>T (p.Asp380Val)
c.1235A>T (p.Asp412Val)
c.2285A>T (p.Asp762Val)
c.1625A>T (p.Asp542Val)
c.2321A>T (p.Asp774Val)
c.2318A>T (p.Asp773Val)
c.2195A>T (p.Asp732Val)
c.2078A>T (p.Asp693Val)
c.998A>T (p.Asp333Val)
n.3225A>T
n.3123A>T
n.2536A>T
n.2434A>T
9g.114404026T>CCA374619899WHRNc.632A>G (p.Asp211Gly)
c.2288A>G (p.Asp763Gly)
c.1261A>G
n.2169A>G
c.1139A>G (p.Asp380Gly)
c.1235A>G (p.Asp412Gly)
c.2285A>G (p.Asp762Gly)
c.1625A>G (p.Asp542Gly)
c.2321A>G (p.Asp774Gly)
c.2318A>G (p.Asp773Gly)
c.2195A>G (p.Asp732Gly)
c.2078A>G (p.Asp693Gly)
c.998A>G (p.Asp333Gly)
n.3225A>G
n.3123A>G
n.2536A>G
n.2434A>G
9g.114404026T>GCA374619898WHRNc.632A>C (p.Asp211Ala)
c.2288A>C (p.Asp763Ala)
c.1261A>C
n.2169A>C
c.1139A>C (p.Asp380Ala)
c.1235A>C (p.Asp412Ala)
c.2285A>C (p.Asp762Ala)
c.1625A>C (p.Asp542Ala)
c.2321A>C (p.Asp774Ala)
c.2318A>C (p.Asp773Ala)
c.2195A>C (p.Asp732Ala)
c.2078A>C (p.Asp693Ala)
c.998A>C (p.Asp333Ala)
n.3225A>C
n.3123A>C
n.2536A>C
n.2434A>C
9g.114404027C>ACA374619900WHRNc.631G>T (p.Asp211Tyr)
c.2287G>T (p.Asp763Tyr)
c.1260G>T
n.2168G>T
c.1138G>T (p.Asp380Tyr)
c.1234G>T (p.Asp412Tyr)
c.2284G>T (p.Asp762Tyr)
c.1624G>T (p.Asp542Tyr)
c.2320G>T (p.Asp774Tyr)
c.2317G>T (p.Asp773Tyr)
c.2194G>T (p.Asp732Tyr)
c.2077G>T (p.Asp693Tyr)
c.997G>T (p.Asp333Tyr)
n.3224G>T
n.3122G>T
n.2535G>T
n.2433G>T
9g.114404027C>GCA374619902WHRNc.631G>C (p.Asp211His)
c.2287G>C (p.Asp763His)
c.1260G>C
n.2168G>C
c.1138G>C (p.Asp380His)
c.1234G>C (p.Asp412His)
c.2284G>C (p.Asp762His)
c.1624G>C (p.Asp542His)
c.2320G>C (p.Asp774His)
c.2317G>C (p.Asp773His)
c.2194G>C (p.Asp732His)
c.2077G>C (p.Asp693His)
c.997G>C (p.Asp333His)
n.3224G>C
n.3122G>C
n.2535G>C
n.2433G>C
9g.114404027C>TCA374619901WHRNc.631G>A (p.Asp211Asn)
c.2287G>A (p.Asp763Asn)
c.1260G>A
n.2168G>A
c.1138G>A (p.Asp380Asn)
c.1234G>A (p.Asp412Asn)
c.2284G>A (p.Asp762Asn)
c.1624G>A (p.Asp542Asn)
c.2320G>A (p.Asp774Asn)
c.2317G>A (p.Asp773Asn)
c.2194G>A (p.Asp732Asn)
c.2077G>A (p.Asp693Asn)
c.997G>A (p.Asp333Asn)
n.3224G>A
n.3122G>A
n.2535G>A
n.2433G>A
 gnomAD v4
9g.114404028C>ACA374619903WHRNc.630G>T (p.Glu210Asp)
c.2286G>T (p.Glu762Asp)
c.1259G>T
n.2167G>T
c.1137G>T (p.Glu379Asp)
c.1233G>T (p.Glu411Asp)
c.2283G>T (p.Glu761Asp)
c.1623G>T (p.Glu541Asp)
c.2319G>T (p.Glu773Asp)
c.2316G>T (p.Glu772Asp)
c.2193G>T (p.Glu731Asp)
c.2076G>T (p.Glu692Asp)
c.996G>T (p.Glu332Asp)
n.3223G>T
n.3121G>T
n.2534G>T
n.2432G>T
9g.114404028C>GCA374619904WHRNc.630G>C (p.Glu210Asp)
c.2286G>C (p.Glu762Asp)
c.1259G>C
n.2167G>C
c.1137G>C (p.Glu379Asp)
c.1233G>C (p.Glu411Asp)
c.2283G>C (p.Glu761Asp)
c.1623G>C (p.Glu541Asp)
c.2319G>C (p.Glu773Asp)
c.2316G>C (p.Glu772Asp)
c.2193G>C (p.Glu731Asp)
c.2076G>C (p.Glu692Asp)
c.996G>C (p.Glu332Asp)
n.3223G>C
n.3121G>C
n.2534G>C
n.2432G>C
9g.114404028C>TCA466782000WHRNc.630G>A (p.Glu210=)
c.2286G>A (p.Glu762=)
c.1259G>A
n.2167G>A
c.1137G>A (p.Glu379=)
c.1233G>A (p.Glu411=)
c.2283G>A (p.Glu761=)
c.1623G>A (p.Glu541=)
c.2319G>A (p.Glu773=)
c.2316G>A (p.Glu772=)
c.2193G>A (p.Glu731=)
c.2076G>A (p.Glu692=)
c.996G>A (p.Glu332=)
n.3223G>A
n.3121G>A
n.2534G>A
n.2432G>A
 gnomAD v4
9g.114404029T>ACA374619905WHRNc.629A>T (p.Glu210Val)
c.2285A>T (p.Glu762Val)
c.1258A>T
n.2166A>T
c.1136A>T (p.Glu379Val)
c.1232A>T (p.Glu411Val)
c.2282A>T (p.Glu761Val)
c.1622A>T (p.Glu541Val)
c.2318A>T (p.Glu773Val)
c.2315A>T (p.Glu772Val)
c.2192A>T (p.Glu731Val)
c.2075A>T (p.Glu692Val)
c.995A>T (p.Glu332Val)
n.3222A>T
n.3120A>T
n.2533A>T
n.2431A>T
9g.114404029T>CCA374619906WHRNc.629A>G (p.Glu210Gly)
c.2285A>G (p.Glu762Gly)
c.1258A>G
n.2166A>G
c.1136A>G (p.Glu379Gly)
c.1232A>G (p.Glu411Gly)
c.2282A>G (p.Glu761Gly)
c.1622A>G (p.Glu541Gly)
c.2318A>G (p.Glu773Gly)
c.2315A>G (p.Glu772Gly)
c.2192A>G (p.Glu731Gly)
c.2075A>G (p.Glu692Gly)
c.995A>G (p.Glu332Gly)
n.3222A>G
n.3120A>G
n.2533A>G
n.2431A>G
9g.114404029T>GCA374619907WHRNc.629A>C (p.Glu210Ala)
c.2285A>C (p.Glu762Ala)
c.1258A>C
n.2166A>C
c.1136A>C (p.Glu379Ala)
c.1232A>C (p.Glu411Ala)
c.2282A>C (p.Glu761Ala)
c.1622A>C (p.Glu541Ala)
c.2318A>C (p.Glu773Ala)
c.2315A>C (p.Glu772Ala)
c.2192A>C (p.Glu731Ala)
c.2075A>C (p.Glu692Ala)
c.995A>C (p.Glu332Ala)
n.3222A>C
n.3120A>C
n.2533A>C
n.2431A>C
9g.114404030C>ACA374619908WHRNc.628G>T (p.Glu210Ter)
c.2284G>T (p.Glu762Ter)
c.1257G>T
n.2165G>T
c.1135G>T (p.Glu379Ter)
c.1231G>T (p.Glu411Ter)
c.2281G>T (p.Glu761Ter)
c.1621G>T (p.Glu541Ter)
c.2317G>T (p.Glu773Ter)
c.2314G>T (p.Glu772Ter)
c.2191G>T (p.Glu731Ter)
c.2074G>T (p.Glu692Ter)
c.994G>T (p.Glu332Ter)
n.3221G>T
n.3119G>T
n.2532G>T
n.2430G>T
9g.114404030C=CA1873825909WHRNc.628G= (p.Glu210=)
c.2284G= (p.Glu762=)
c.1257G=
n.2165G=
c.1135G= (p.Glu379=)
c.1231G= (p.Glu411=)
c.2281G= (p.Glu761=)
c.1621G= (p.Glu541=)
c.2317G= (p.Glu773=)
c.2314G= (p.Glu772=)
c.2191G= (p.Glu731=)
c.2074G= (p.Glu692=)
c.994G= (p.Glu332=)
n.3221G=
n.3119G=
n.2532G=
n.2430G=
9g.114404030C>GCA374619909WHRNc.628G>C (p.Glu210Gln)
c.2284G>C (p.Glu762Gln)
c.1257G>C
n.2165G>C
c.1135G>C (p.Glu379Gln)
c.1231G>C (p.Glu411Gln)
c.2281G>C (p.Glu761Gln)
c.1621G>C (p.Glu541Gln)
c.2317G>C (p.Glu773Gln)
c.2314G>C (p.Glu772Gln)
c.2191G>C (p.Glu731Gln)
c.2074G>C (p.Glu692Gln)
c.994G>C (p.Glu332Gln)
n.3221G>C
n.3119G>C
n.2532G>C
n.2430G>C
9g.114404030C>TCA5205675WHRNc.628G>A (p.Glu210Lys)
c.2284G>A (p.Glu762Lys)
c.1257G>A
n.2165G>A
c.1135G>A (p.Glu379Lys)
c.1231G>A (p.Glu411Lys)
c.2281G>A (p.Glu761Lys)
c.1621G>A (p.Glu541Lys)
c.2317G>A (p.Glu773Lys)
c.2314G>A (p.Glu772Lys)
c.2191G>A (p.Glu731Lys)
c.2074G>A (p.Glu692Lys)
c.994G>A (p.Glu332Lys)
n.3221G>A
n.3119G>A
n.2532G>A
n.2430G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404031G>ACA136906WHRNc.627C>T (p.Ser209=)
c.2283C>T (p.Ser761=)
c.1256C>T
n.2164C>T
c.1134C>T (p.Ser378=)
c.1230C>T (p.Ser410=)
c.2280C>T (p.Ser760=)
c.1620C>T (p.Ser540=)
c.2316C>T (p.Ser772=)
c.2313C>T (p.Ser771=)
c.2190C>T (p.Ser730=)
c.2073C>T (p.Ser691=)
c.993C>T (p.Ser331=)
n.3220C>T
n.3118C>T
n.2531C>T
n.2429C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404031G>CCA374619910WHRNc.627C>G (p.Ser209Arg)
c.2283C>G (p.Ser761Arg)
c.1256C>G
n.2164C>G
c.1134C>G (p.Ser378Arg)
c.1230C>G (p.Ser410Arg)
c.2280C>G (p.Ser760Arg)
c.1620C>G (p.Ser540Arg)
c.2316C>G (p.Ser772Arg)
c.2313C>G (p.Ser771Arg)
c.2190C>G (p.Ser730Arg)
c.2073C>G (p.Ser691Arg)
c.993C>G (p.Ser331Arg)
n.3220C>G
n.3118C>G
n.2531C>G
n.2429C>G
9g.114404031G=CA1873825910WHRNc.627C= (p.Ser209=)
c.2283C= (p.Ser761=)
c.1256C=
n.2164C=
c.1134C= (p.Ser378=)
c.1230C= (p.Ser410=)
c.2280C= (p.Ser760=)
c.1620C= (p.Ser540=)
c.2316C= (p.Ser772=)
c.2313C= (p.Ser771=)
c.2190C= (p.Ser730=)
c.2073C= (p.Ser691=)
c.993C= (p.Ser331=)
n.3220C=
n.3118C=
n.2531C=
n.2429C=
9g.114404031G>TCA5205676WHRNc.627C>A (p.Ser209Arg)
c.2283C>A (p.Ser761Arg)
c.1256C>A
n.2164C>A
c.1134C>A (p.Ser378Arg)
c.1230C>A (p.Ser410Arg)
c.2280C>A (p.Ser760Arg)
c.1620C>A (p.Ser540Arg)
c.2316C>A (p.Ser772Arg)
c.2313C>A (p.Ser771Arg)
c.2190C>A (p.Ser730Arg)
c.2073C>A (p.Ser691Arg)
c.993C>A (p.Ser331Arg)
n.3220C>A
n.3118C>A
n.2531C>A
n.2429C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.114404032C>ACA374619911WHRNc.626G>T (p.Ser209Ile)
c.2282G>T (p.Ser761Ile)
c.1255G>T
n.2163G>T
c.1133G>T (p.Ser378Ile)
c.1229G>T (p.Ser410Ile)
c.2279G>T (p.Ser760Ile)
c.1619G>T (p.Ser540Ile)
c.2315G>T (p.Ser772Ile)
c.2312G>T (p.Ser771Ile)
c.2189G>T (p.Ser730Ile)
c.2072G>T (p.Ser691Ile)
c.992G>T (p.Ser331Ile)
n.3219G>T
n.3117G>T
n.2530G>T
n.2428G>T
9g.114404032C=CA1873825911WHRNc.626G= (p.Ser209=)
c.2282G= (p.Ser761=)
c.1255G=
n.2163G=
c.1133G= (p.Ser378=)
c.1229G= (p.Ser410=)
c.2279G= (p.Ser760=)
c.1619G= (p.Ser540=)
c.2315G= (p.Ser772=)
c.2312G= (p.Ser771=)
c.2189G= (p.Ser730=)
c.2072G= (p.Ser691=)
c.992G= (p.Ser331=)
n.3219G=
n.3117G=
n.2530G=
n.2428G=
9g.114404032C>GCA374619912WHRNc.626G>C (p.Ser209Thr)
c.2282G>C (p.Ser761Thr)
c.1255G>C
n.2163G>C
c.1133G>C (p.Ser378Thr)
c.1229G>C (p.Ser410Thr)
c.2279G>C (p.Ser760Thr)
c.1619G>C (p.Ser540Thr)
c.2315G>C (p.Ser772Thr)
c.2312G>C (p.Ser771Thr)
c.2189G>C (p.Ser730Thr)
c.2072G>C (p.Ser691Thr)
c.992G>C (p.Ser331Thr)
n.3219G>C
n.3117G>C
n.2530G>C
n.2428G>C
9g.114404032C>TCA374619913WHRNc.626G>A (p.Ser209Asn)
c.2282G>A (p.Ser761Asn)
c.1255G>A
n.2163G>A
c.1133G>A (p.Ser378Asn)
c.1229G>A (p.Ser410Asn)
c.2279G>A (p.Ser760Asn)
c.1619G>A (p.Ser540Asn)
c.2315G>A (p.Ser772Asn)
c.2312G>A (p.Ser771Asn)
c.2189G>A (p.Ser730Asn)
c.2072G>A (p.Ser691Asn)
c.992G>A (p.Ser331Asn)
n.3219G>A
n.3117G>A
n.2530G>A
n.2428G>A
 dbSNP gnomAD v3 gnomAD v4
9g.114404033T>ACA374619916WHRNc.625A>T (p.Ser209Cys)
c.2281A>T (p.Ser761Cys)
c.1254A>T
n.2162A>T
c.1132A>T (p.Ser378Cys)
c.1228A>T (p.Ser410Cys)
c.2278A>T (p.Ser760Cys)
c.1618A>T (p.Ser540Cys)
c.2314A>T (p.Ser772Cys)
c.2311A>T (p.Ser771Cys)
c.2188A>T (p.Ser730Cys)
c.2071A>T (p.Ser691Cys)
c.991A>T (p.Ser331Cys)
n.3218A>T
n.3116A>T
n.2529A>T
n.2427A>T
9g.114404033T>CCA374619914WHRNc.625A>G (p.Ser209Gly)
c.2281A>G (p.Ser761Gly)
c.1254A>G
n.2162A>G
c.1132A>G (p.Ser378Gly)
c.1228A>G (p.Ser410Gly)
c.2278A>G (p.Ser760Gly)
c.1618A>G (p.Ser540Gly)
c.2314A>G (p.Ser772Gly)
c.2311A>G (p.Ser771Gly)
c.2188A>G (p.Ser730Gly)
c.2071A>G (p.Ser691Gly)
c.991A>G (p.Ser331Gly)
n.3218A>G
n.3116A>G
n.2529A>G
n.2427A>G
 ClinVar dbSNP
9g.114404033T>GCA374619915WHRNc.625A>C (p.Ser209Arg)
c.2281A>C (p.Ser761Arg)
c.1254A>C
n.2162A>C
c.1132A>C (p.Ser378Arg)
c.1228A>C (p.Ser410Arg)
c.2278A>C (p.Ser760Arg)
c.1618A>C (p.Ser540Arg)
c.2314A>C (p.Ser772Arg)
c.2311A>C (p.Ser771Arg)
c.2188A>C (p.Ser730Arg)
c.2071A>C (p.Ser691Arg)
c.991A>C (p.Ser331Arg)
n.3218A>C
n.3116A>C
n.2529A>C
n.2427A>C
9g.114404034T>ACA466782003WHRNc.624A>T (p.Leu208=)
c.2280A>T (p.Leu760=)
c.1253A>T
n.2161A>T
c.1131A>T (p.Leu377=)
c.1227A>T (p.Leu409=)
c.2277A>T (p.Leu759=)
c.1617A>T (p.Leu539=)
c.2313A>T (p.Leu771=)
c.2310A>T (p.Leu770=)
c.2187A>T (p.Leu729=)
c.2070A>T (p.Leu690=)
c.990A>T (p.Leu330=)
n.3217A>T
n.3115A>T
n.2528A>T
n.2426A>T
9g.114404034T>CCA466782002WHRNc.624A>G (p.Leu208=)
c.2280A>G (p.Leu760=)
c.1253A>G
n.2161A>G
c.1131A>G (p.Leu377=)
c.1227A>G (p.Leu409=)
c.2277A>G (p.Leu759=)
c.1617A>G (p.Leu539=)
c.2313A>G (p.Leu771=)
c.2310A>G (p.Leu770=)
c.2187A>G (p.Leu729=)
c.2070A>G (p.Leu690=)
c.990A>G (p.Leu330=)
n.3217A>G
n.3115A>G
n.2528A>G
n.2426A>G
9g.114404034T>GCA466782004WHRNc.624A>C (p.Leu208=)
c.2280A>C (p.Leu760=)
c.1253A>C
n.2161A>C
c.1131A>C (p.Leu377=)
c.1227A>C (p.Leu409=)
c.2277A>C (p.Leu759=)
c.1617A>C (p.Leu539=)
c.2313A>C (p.Leu771=)
c.2310A>C (p.Leu770=)
c.2187A>C (p.Leu729=)
c.2070A>C (p.Leu690=)
c.990A>C (p.Leu330=)
n.3217A>C
n.3115A>C
n.2528A>C
n.2426A>C
9g.114404035A>CCA374619917WHRNc.623T>G (p.Leu208Arg)
c.2279T>G (p.Leu760Arg)
c.1252T>G
n.2160T>G
c.1130T>G (p.Leu377Arg)
c.1226T>G (p.Leu409Arg)
c.2276T>G (p.Leu759Arg)
c.1616T>G (p.Leu539Arg)
c.2312T>G (p.Leu771Arg)
c.2309T>G (p.Leu770Arg)
c.2186T>G (p.Leu729Arg)
c.2069T>G (p.Leu690Arg)
c.989T>G (p.Leu330Arg)
n.3216T>G
n.3114T>G
n.2527T>G
n.2425T>G
9g.114404035A>GCA374619918WHRNc.623T>C (p.Leu208Pro)
c.2279T>C (p.Leu760Pro)
c.1252T>C
n.2160T>C
c.1130T>C (p.Leu377Pro)
c.1226T>C (p.Leu409Pro)
c.2276T>C (p.Leu759Pro)
c.1616T>C (p.Leu539Pro)
c.2312T>C (p.Leu771Pro)
c.2309T>C (p.Leu770Pro)
c.2186T>C (p.Leu729Pro)
c.2069T>C (p.Leu690Pro)
c.989T>C (p.Leu330Pro)
n.3216T>C
n.3114T>C
n.2527T>C
n.2425T>C
9g.114404035A>TCA374619919WHRNc.623T>A (p.Leu208Gln)
c.2279T>A (p.Leu760Gln)
c.1252T>A
n.2160T>A
c.1130T>A (p.Leu377Gln)
c.1226T>A (p.Leu409Gln)
c.2276T>A (p.Leu759Gln)
c.1616T>A (p.Leu539Gln)
c.2312T>A (p.Leu771Gln)
c.2309T>A (p.Leu770Gln)
c.2186T>A (p.Leu729Gln)
c.2069T>A (p.Leu690Gln)
c.989T>A (p.Leu330Gln)
n.3216T>A
n.3114T>A
n.2527T>A
n.2425T>A
 gnomAD v4
9g.114404036G>ACA466782005WHRNc.622C>T (p.Leu208=)
c.2278C>T (p.Leu760=)
c.1251C>T
n.2159C>T
c.1129C>T (p.Leu377=)
c.1225C>T (p.Leu409=)
c.2275C>T (p.Leu759=)
c.1615C>T (p.Leu539=)
c.2311C>T (p.Leu771=)
c.2308C>T (p.Leu770=)
c.2185C>T (p.Leu729=)
c.2068C>T (p.Leu690=)
c.988C>T (p.Leu330=)
n.3215C>T
n.3113C>T
n.2526C>T
n.2424C>T
9g.114404036G>CCA374619920WHRNc.622C>G (p.Leu208Val)
c.2278C>G (p.Leu760Val)
c.1251C>G
n.2159C>G
c.1129C>G (p.Leu377Val)
c.1225C>G (p.Leu409Val)
c.2275C>G (p.Leu759Val)
c.1615C>G (p.Leu539Val)
c.2311C>G (p.Leu771Val)
c.2308C>G (p.Leu770Val)
c.2185C>G (p.Leu729Val)
c.2068C>G (p.Leu690Val)
c.988C>G (p.Leu330Val)
n.3215C>G
n.3113C>G
n.2526C>G
n.2424C>G
 gnomAD v4
9g.114404036G>TCA374619921WHRNc.622C>A (p.Leu208Ile)
c.2278C>A (p.Leu760Ile)
c.1251C>A
n.2159C>A
c.1129C>A (p.Leu377Ile)
c.1225C>A (p.Leu409Ile)
c.2275C>A (p.Leu759Ile)
c.1615C>A (p.Leu539Ile)
c.2311C>A (p.Leu771Ile)
c.2308C>A (p.Leu770Ile)
c.2185C>A (p.Leu729Ile)
c.2068C>A (p.Leu690Ile)
c.988C>A (p.Leu330Ile)
n.3215C>A
n.3113C>A
n.2526C>A
n.2424C>A
9g.114404037A=CA1873825912WHRNc.621T= (p.Thr207=)
c.2277T= (p.Thr759=)
c.1250T=
n.2158T=
c.1128T= (p.Thr376=)
c.1224T= (p.Thr408=)
c.2274T= (p.Thr758=)
c.1614T= (p.Thr538=)
c.2310T= (p.Thr770=)
c.2307T= (p.Thr769=)
c.2184T= (p.Thr728=)
c.2067T= (p.Thr689=)
c.987T= (p.Thr329=)
n.3214T=
n.3112T=
n.2525T=
n.2423T=
9g.114404037A>CCA198649173WHRNc.621T>G (p.Thr207=)
c.2277T>G (p.Thr759=)
c.1250T>G
n.2158T>G
c.1128T>G (p.Thr376=)
c.1224T>G (p.Thr408=)
c.2274T>G (p.Thr758=)
c.1614T>G (p.Thr538=)
c.2310T>G (p.Thr770=)
c.2307T>G (p.Thr769=)
c.2184T>G (p.Thr728=)
c.2067T>G (p.Thr689=)
c.987T>G (p.Thr329=)
n.3214T>G
n.3112T>G
n.2525T>G
n.2423T>G
 ClinVar dbSNP
9g.114404037A>GCA466782006WHRNc.621T>C (p.Thr207=)
c.2277T>C (p.Thr759=)
c.1250T>C
n.2158T>C
c.1128T>C (p.Thr376=)
c.1224T>C (p.Thr408=)
c.2274T>C (p.Thr758=)
c.1614T>C (p.Thr538=)
c.2310T>C (p.Thr770=)
c.2307T>C (p.Thr769=)
c.2184T>C (p.Thr728=)
c.2067T>C (p.Thr689=)
c.987T>C (p.Thr329=)
n.3214T>C
n.3112T>C
n.2525T>C
n.2423T>C
 dbSNP
9g.114404037A>TCA466782007WHRNc.621T>A (p.Thr207=)
c.2277T>A (p.Thr759=)
c.1250T>A
n.2158T>A
c.1128T>A (p.Thr376=)
c.1224T>A (p.Thr408=)
c.2274T>A (p.Thr758=)
c.1614T>A (p.Thr538=)
c.2310T>A (p.Thr770=)
c.2307T>A (p.Thr769=)
c.2184T>A (p.Thr728=)
c.2067T>A (p.Thr689=)
c.987T>A (p.Thr329=)
n.3214T>A
n.3112T>A
n.2525T>A
n.2423T>A
9g.114404038G>ACA374619922WHRNc.620C>T (p.Thr207Ile)
c.2276C>T (p.Thr759Ile)
c.1249C>T
n.2157C>T
c.1127C>T (p.Thr376Ile)
c.1223C>T (p.Thr408Ile)
c.2273C>T (p.Thr758Ile)
c.1613C>T (p.Thr538Ile)
c.2309C>T (p.Thr770Ile)
c.2306C>T (p.Thr769Ile)
c.2183C>T (p.Thr728Ile)
c.2066C>T (p.Thr689Ile)
c.986C>T (p.Thr329Ile)
n.3213C>T
n.3111C>T
n.2524C>T
n.2422C>T
9g.114404038G>CCA374619923WHRNc.620C>G (p.Thr207Ser)
c.2276C>G (p.Thr759Ser)
c.1249C>G
n.2157C>G
c.1127C>G (p.Thr376Ser)
c.1223C>G (p.Thr408Ser)
c.2273C>G (p.Thr758Ser)
c.1613C>G (p.Thr538Ser)
c.2309C>G (p.Thr770Ser)
c.2306C>G (p.Thr769Ser)
c.2183C>G (p.Thr728Ser)
c.2066C>G (p.Thr689Ser)
c.986C>G (p.Thr329Ser)
n.3213C>G
n.3111C>G
n.2524C>G
n.2422C>G
9g.114404038G>TCA374619924WHRNc.620C>A (p.Thr207Asn)
c.2276C>A (p.Thr759Asn)
c.1249C>A
n.2157C>A
c.1127C>A (p.Thr376Asn)
c.1223C>A (p.Thr408Asn)
c.2273C>A (p.Thr758Asn)
c.1613C>A (p.Thr538Asn)
c.2309C>A (p.Thr770Asn)
c.2306C>A (p.Thr769Asn)
c.2183C>A (p.Thr728Asn)
c.2066C>A (p.Thr689Asn)
c.986C>A (p.Thr329Asn)
n.3213C>A
n.3111C>A
n.2524C>A
n.2422C>A
 gnomAD v4
9g.114404039T>ACA374619925WHRNc.619A>T (p.Thr207Ser)
c.2275A>T (p.Thr759Ser)
c.1248A>T
n.2156A>T
c.1126A>T (p.Thr376Ser)
c.1222A>T (p.Thr408Ser)
c.2272A>T (p.Thr758Ser)
c.1612A>T (p.Thr538Ser)
c.2308A>T (p.Thr770Ser)
c.2305A>T (p.Thr769Ser)
c.2182A>T (p.Thr728Ser)
c.2065A>T (p.Thr689Ser)
c.985A>T (p.Thr329Ser)
n.3212A>T
n.3110A>T
n.2523A>T
n.2421A>T
9g.114404039T>CCA374619926WHRNc.619A>G (p.Thr207Ala)
c.2275A>G (p.Thr759Ala)
c.1248A>G
n.2156A>G
c.1126A>G (p.Thr376Ala)
c.1222A>G (p.Thr408Ala)
c.2272A>G (p.Thr758Ala)
c.1612A>G (p.Thr538Ala)
c.2308A>G (p.Thr770Ala)
c.2305A>G (p.Thr769Ala)
c.2182A>G (p.Thr728Ala)
c.2065A>G (p.Thr689Ala)
c.985A>G (p.Thr329Ala)
n.3212A>G
n.3110A>G
n.2523A>G
n.2421A>G
9g.114404039T>GCA374619927WHRNc.619A>C (p.Thr207Pro)
c.2275A>C (p.Thr759Pro)
c.1248A>C
n.2156A>C
c.1126A>C (p.Thr376Pro)
c.1222A>C (p.Thr408Pro)
c.2272A>C (p.Thr758Pro)
c.1612A>C (p.Thr538Pro)
c.2308A>C (p.Thr770Pro)
c.2305A>C (p.Thr769Pro)
c.2182A>C (p.Thr728Pro)
c.2065A>C (p.Thr689Pro)
c.985A>C (p.Thr329Pro)
n.3212A>C
n.3110A>C
n.2523A>C
n.2421A>C
 gnomAD v4
9g.114404040C>ACA374619929WHRNc.618G>T (p.Gln206His)
c.2274G>T (p.Gln758His)
c.1247G>T
n.2155G>T
c.1125G>T (p.Gln375His)
c.1221G>T (p.Gln407His)
c.2271G>T (p.Gln757His)
c.1611G>T (p.Gln537His)
c.2307G>T (p.Gln769His)
c.2304G>T (p.Gln768His)
c.2181G>T (p.Gln727His)
c.2064G>T (p.Gln688His)
c.984G>T (p.Gln328His)
n.3211G>T
n.3109G>T
n.2522G>T
n.2420G>T
9g.114404040C=CA1873825913WHRNc.618G= (p.Gln206=)
c.2274G= (p.Gln758=)
c.1247G=
n.2155G=
c.1125G= (p.Gln375=)
c.1221G= (p.Gln407=)
c.2271G= (p.Gln757=)
c.1611G= (p.Gln537=)
c.2307G= (p.Gln769=)
c.2304G= (p.Gln768=)
c.2181G= (p.Gln727=)
c.2064G= (p.Gln688=)
c.984G= (p.Gln328=)
n.3211G=
n.3109G=
n.2522G=
n.2420G=
9g.114404040C>GCA374619928WHRNc.618G>C (p.Gln206His)
c.2274G>C (p.Gln758His)
c.1247G>C
n.2155G>C
c.1125G>C (p.Gln375His)
c.1221G>C (p.Gln407His)
c.2271G>C (p.Gln757His)
c.1611G>C (p.Gln537His)
c.2307G>C (p.Gln769His)
c.2304G>C (p.Gln768His)
c.2181G>C (p.Gln727His)
c.2064G>C (p.Gln688His)
c.984G>C (p.Gln328His)
n.3211G>C
n.3109G>C
n.2522G>C
n.2420G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.114404040C>TCA466782008WHRNc.618G>A (p.Gln206=)
c.2274G>A (p.Gln758=)
c.1247G>A
n.2155G>A
c.1125G>A (p.Gln375=)
c.1221G>A (p.Gln407=)
c.2271G>A (p.Gln757=)
c.1611G>A (p.Gln537=)
c.2307G>A (p.Gln769=)
c.2304G>A (p.Gln768=)
c.2181G>A (p.Gln727=)
c.2064G>A (p.Gln688=)
c.984G>A (p.Gln328=)
n.3211G>A
n.3109G>A
n.2522G>A
n.2420G>A
 dbSNP gnomAD v2
9g.114404041T>ACA374619930WHRNc.617A>T (p.Gln206Leu)
c.2273A>T (p.Gln758Leu)
c.1246A>T
n.2154A>T
c.1124A>T (p.Gln375Leu)
c.1220A>T (p.Gln407Leu)
c.2270A>T (p.Gln757Leu)
c.1610A>T (p.Gln537Leu)
c.2306A>T (p.Gln769Leu)
c.2303A>T (p.Gln768Leu)
c.2180A>T (p.Gln727Leu)
c.2063A>T (p.Gln688Leu)
c.983A>T (p.Gln328Leu)
n.3210A>T
n.3108A>T
n.2521A>T
n.2419A>T
 dbSNP gnomAD v4
9g.114404041T>CCA374619931WHRNc.617A>G (p.Gln206Arg)
c.2273A>G (p.Gln758Arg)
c.1246A>G
n.2154A>G
c.1124A>G (p.Gln375Arg)
c.1220A>G (p.Gln407Arg)
c.2270A>G (p.Gln757Arg)
c.1610A>G (p.Gln537Arg)
c.2306A>G (p.Gln769Arg)
c.2303A>G (p.Gln768Arg)
c.2180A>G (p.Gln727Arg)
c.2063A>G (p.Gln688Arg)
c.983A>G (p.Gln328Arg)
n.3210A>G
n.3108A>G
n.2521A>G
n.2419A>G
 dbSNP gnomAD v3 gnomAD v4
9g.114404041T>GCA374619932WHRNc.617A>C (p.Gln206Pro)
c.2273A>C (p.Gln758Pro)
c.1246A>C
n.2154A>C
c.1124A>C (p.Gln375Pro)
c.1220A>C (p.Gln407Pro)
c.2270A>C (p.Gln757Pro)
c.1610A>C (p.Gln537Pro)
c.2306A>C (p.Gln769Pro)
c.2303A>C (p.Gln768Pro)
c.2180A>C (p.Gln727Pro)
c.2063A>C (p.Gln688Pro)
c.983A>C (p.Gln328Pro)
n.3210A>C
n.3108A>C
n.2521A>C
n.2419A>C
9g.114404041T=CA1873825914WHRNc.617A= (p.Gln206=)
c.2273A= (p.Gln758=)
c.1246A=
n.2154A=
c.1124A= (p.Gln375=)
c.1220A= (p.Gln407=)
c.2270A= (p.Gln757=)
c.1610A= (p.Gln537=)
c.2306A= (p.Gln769=)
c.2303A= (p.Gln768=)
c.2180A= (p.Gln727=)
c.2063A= (p.Gln688=)
c.983A= (p.Gln328=)
n.3210A=
n.3108A=
n.2521A=
n.2419A=
9g.114404042G>ACA374619933WHRNc.616C>T (p.Gln206Ter)
c.2272C>T (p.Gln758Ter)
c.1245C>T
n.2153C>T
c.1123C>T (p.Gln375Ter)
c.1219C>T (p.Gln407Ter)
c.2269C>T (p.Gln757Ter)
c.1609C>T (p.Gln537Ter)
c.2305C>T (p.Gln769Ter)
c.2302C>T (p.Gln768Ter)
c.2179C>T (p.Gln727Ter)
c.2062C>T (p.Gln688Ter)
c.982C>T (p.Gln328Ter)
n.3209C>T
n.3107C>T
n.2520C>T
n.2418C>T
9g.114404042G>CCA374619934WHRNc.616C>G (p.Gln206Glu)
c.2272C>G (p.Gln758Glu)
c.1245C>G
n.2153C>G
c.1123C>G (p.Gln375Glu)
c.1219C>G (p.Gln407Glu)
c.2269C>G (p.Gln757Glu)
c.1609C>G (p.Gln537Glu)
c.2305C>G (p.Gln769Glu)
c.2302C>G (p.Gln768Glu)
c.2179C>G (p.Gln727Glu)
c.2062C>G (p.Gln688Glu)
c.982C>G (p.Gln328Glu)
n.3209C>G
n.3107C>G
n.2520C>G
n.2418C>G
9g.114404042G>TCA374619935WHRNc.616C>A (p.Gln206Lys)
c.2272C>A (p.Gln758Lys)
c.1245C>A
n.2153C>A
c.1123C>A (p.Gln375Lys)
c.1219C>A (p.Gln407Lys)
c.2269C>A (p.Gln757Lys)
c.1609C>A (p.Gln537Lys)
c.2305C>A (p.Gln769Lys)
c.2302C>A (p.Gln768Lys)
c.2179C>A (p.Gln727Lys)
c.2062C>A (p.Gln688Lys)
c.982C>A (p.Gln328Lys)
n.3209C>A
n.3107C>A
n.2520C>A
n.2418C>A
 gnomAD v4
9g.114404043C>ACA466782009WHRNc.615G>T (p.Gly205=)
c.2271G>T (p.Gly757=)
c.1244G>T
n.2152G>T
c.1122G>T (p.Gly374=)
c.1218G>T (p.Gly406=)
c.2268G>T (p.Gly756=)
c.1608G>T (p.Gly536=)
c.2304G>T (p.Gly768=)
c.2301G>T (p.Gly767=)
c.2178G>T (p.Gly726=)
c.2061G>T (p.Gly687=)
c.981G>T (p.Gly327=)
n.3208G>T
n.3106G>T
n.2519G>T
n.2417G>T
9g.114404043C>GCA466782010WHRNc.615G>C (p.Gly205=)
c.2271G>C (p.Gly757=)
c.1244G>C
n.2152G>C
c.1122G>C (p.Gly374=)
c.1218G>C (p.Gly406=)
c.2268G>C (p.Gly756=)
c.1608G>C (p.Gly536=)
c.2304G>C (p.Gly768=)
c.2301G>C (p.Gly767=)
c.2178G>C (p.Gly726=)
c.2061G>C (p.Gly687=)
c.981G>C (p.Gly327=)
n.3208G>C
n.3106G>C
n.2519G>C
n.2417G>C
9g.114404043C>TCA466782011WHRNc.615G>A (p.Gly205=)
c.2271G>A (p.Gly757=)
c.1244G>A
n.2152G>A
c.1122G>A (p.Gly374=)
c.1218G>A (p.Gly406=)
c.2268G>A (p.Gly756=)
c.1608G>A (p.Gly536=)
c.2304G>A (p.Gly768=)
c.2301G>A (p.Gly767=)
c.2178G>A (p.Gly726=)
c.2061G>A (p.Gly687=)
c.981G>A (p.Gly327=)
n.3208G>A
n.3106G>A
n.2519G>A
n.2417G>A
 gnomAD v4
9g.114404044C>ACA374619936WHRNc.614G>T (p.Gly205Val)
c.2270G>T (p.Gly757Val)
c.1243G>T
n.2151G>T
c.1121G>T (p.Gly374Val)
c.1217G>T (p.Gly406Val)
c.2267G>T (p.Gly756Val)
c.1607G>T (p.Gly536Val)
c.2303G>T (p.Gly768Val)
c.2300G>T (p.Gly767Val)
c.2177G>T (p.Gly726Val)
c.2060G>T (p.Gly687Val)
c.980G>T (p.Gly327Val)
n.3207G>T
n.3105G>T
n.2518G>T
n.2416G>T
9g.114404044C=CA1873825915WHRNc.614G= (p.Gly205=)
c.2270G= (p.Gly757=)
c.1243G=
n.2151G=
c.1121G= (p.Gly374=)
c.1217G= (p.Gly406=)
c.2267G= (p.Gly756=)
c.1607G= (p.Gly536=)
c.2303G= (p.Gly768=)
c.2300G= (p.Gly767=)
c.2177G= (p.Gly726=)
c.2060G= (p.Gly687=)
c.980G= (p.Gly327=)
n.3207G=
n.3105G=
n.2518G=
n.2416G=
9g.114404044C>GCA374619937WHRNc.614G>C (p.Gly205Ala)
c.2270G>C (p.Gly757Ala)
c.1243G>C
n.2151G>C
c.1121G>C (p.Gly374Ala)
c.1217G>C (p.Gly406Ala)
c.2267G>C (p.Gly756Ala)
c.1607G>C (p.Gly536Ala)
c.2303G>C (p.Gly768Ala)
c.2300G>C (p.Gly767Ala)
c.2177G>C (p.Gly726Ala)
c.2060G>C (p.Gly687Ala)
c.980G>C (p.Gly327Ala)
n.3207G>C
n.3105G>C
n.2518G>C
n.2416G>C
9g.114404044C>TCA374619938WHRNc.614G>A (p.Gly205Glu)
c.2270G>A (p.Gly757Glu)
c.1243G>A
n.2151G>A
c.1121G>A (p.Gly374Glu)
c.1217G>A (p.Gly406Glu)
c.2267G>A (p.Gly756Glu)
c.1607G>A (p.Gly536Glu)
c.2303G>A (p.Gly768Glu)
c.2300G>A (p.Gly767Glu)
c.2177G>A (p.Gly726Glu)
c.2060G>A (p.Gly687Glu)
c.980G>A (p.Gly327Glu)
n.3207G>A
n.3105G>A
n.2518G>A
n.2416G>A
 dbSNP gnomAD v2
9g.114404045C>ACA374619939WHRNc.613G>T (p.Gly205Trp)
c.2269G>T (p.Gly757Trp)
c.1242G>T
n.2150G>T
c.1120G>T (p.Gly374Trp)
c.1216G>T (p.Gly406Trp)
c.2266G>T (p.Gly756Trp)
c.1606G>T (p.Gly536Trp)
c.2302G>T (p.Gly768Trp)
c.2299G>T (p.Gly767Trp)
c.2176G>T (p.Gly726Trp)
c.2059G>T (p.Gly687Trp)
c.979G>T (p.Gly327Trp)
n.3206G>T
n.3104G>T
n.2517G>T
n.2415G>T
9g.114404045C=CA1873825916WHRNc.613G= (p.Gly205=)
c.2269G= (p.Gly757=)
c.1242G=
n.2150G=
c.1120G= (p.Gly374=)
c.1216G= (p.Gly406=)
c.2266G= (p.Gly756=)
c.1606G= (p.Gly536=)
c.2302G= (p.Gly768=)
c.2299G= (p.Gly767=)
c.2176G= (p.Gly726=)
c.2059G= (p.Gly687=)
c.979G= (p.Gly327=)
n.3206G=
n.3104G=
n.2517G=
n.2415G=
9g.114404045C>GCA374619940WHRNc.613G>C (p.Gly205Arg)
c.2269G>C (p.Gly757Arg)
c.1242G>C
n.2150G>C
c.1120G>C (p.Gly374Arg)
c.1216G>C (p.Gly406Arg)
c.2266G>C (p.Gly756Arg)
c.1606G>C (p.Gly536Arg)
c.2302G>C (p.Gly768Arg)
c.2299G>C (p.Gly767Arg)
c.2176G>C (p.Gly726Arg)
c.2059G>C (p.Gly687Arg)
c.979G>C (p.Gly327Arg)
n.3206G>C
n.3104G>C
n.2517G>C
n.2415G>C
 gnomAD v4
9g.114404045C>TCA5205677WHRNc.613G>A (p.Gly205Arg)
c.2269G>A (p.Gly757Arg)
c.1242G>A
n.2150G>A
c.1120G>A (p.Gly374Arg)
c.1216G>A (p.Gly406Arg)
c.2266G>A (p.Gly756Arg)
c.1606G>A (p.Gly536Arg)
c.2302G>A (p.Gly768Arg)
c.2299G>A (p.Gly767Arg)
c.2176G>A (p.Gly726Arg)
c.2059G>A (p.Gly687Arg)
c.979G>A (p.Gly327Arg)
n.3206G>A
n.3104G>A
n.2517G>A
n.2415G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404046G>ACA5205678WHRNc.612C>T (p.Ser204=)
c.2268C>T (p.Ser756=)
c.1241C>T
n.2149C>T
c.1119C>T (p.Ser373=)
c.1215C>T (p.Ser405=)
c.2265C>T (p.Ser755=)
c.1605C>T (p.Ser535=)
c.2301C>T (p.Ser767=)
c.2298C>T (p.Ser766=)
c.2175C>T (p.Ser725=)
c.2058C>T (p.Ser686=)
c.978C>T (p.Ser326=)
n.3205C>T
n.3103C>T
n.2516C>T
n.2414C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404046G>CCA374619942WHRNc.612C>G (p.Ser204Arg)
c.2268C>G (p.Ser756Arg)
c.1241C>G
n.2149C>G
c.1119C>G (p.Ser373Arg)
c.1215C>G (p.Ser405Arg)
c.2265C>G (p.Ser755Arg)
c.1605C>G (p.Ser535Arg)
c.2301C>G (p.Ser767Arg)
c.2298C>G (p.Ser766Arg)
c.2175C>G (p.Ser725Arg)
c.2058C>G (p.Ser686Arg)
c.978C>G (p.Ser326Arg)
n.3205C>G
n.3103C>G
n.2516C>G
n.2414C>G
9g.114404046G=CA1873825917WHRNc.612C= (p.Ser204=)
c.2268C= (p.Ser756=)
c.1241C=
n.2149C=
c.1119C= (p.Ser373=)
c.1215C= (p.Ser405=)
c.2265C= (p.Ser755=)
c.1605C= (p.Ser535=)
c.2301C= (p.Ser767=)
c.2298C= (p.Ser766=)
c.2175C= (p.Ser725=)
c.2058C= (p.Ser686=)
c.978C= (p.Ser326=)
n.3205C=
n.3103C=
n.2516C=
n.2414C=
9g.114404046G>TCA374619941WHRNc.612C>A (p.Ser204Arg)
c.2268C>A (p.Ser756Arg)
c.1241C>A
n.2149C>A
c.1119C>A (p.Ser373Arg)
c.1215C>A (p.Ser405Arg)
c.2265C>A (p.Ser755Arg)
c.1605C>A (p.Ser535Arg)
c.2301C>A (p.Ser767Arg)
c.2298C>A (p.Ser766Arg)
c.2175C>A (p.Ser725Arg)
c.2058C>A (p.Ser686Arg)
c.978C>A (p.Ser326Arg)
n.3205C>A
n.3103C>A
n.2516C>A
n.2414C>A
 gnomAD v4
9g.114404050_114404060delCA2691372365WHRNc.602_612del (p.Leu201ArgfsTer?)
c.2258_2268del (p.Leu753ArgfsTer?)
c.1231_1241del
n.2139_2149del
c.1109_1119del (p.Leu370ArgfsTer?)
c.1205_1215del (p.Leu402ArgfsTer?)
c.2255_2265del (p.Leu752ArgfsTer?)
c.1595_1605del (p.Leu532ArgfsTer?)
c.2291_2301del (p.Leu764ArgfsTer?)
c.2288_2298del (p.Leu763ArgfsTer?)
c.2165_2175del (p.Leu722ArgfsTer?)
c.2048_2058del (p.Leu683ArgfsTer?)
c.968_978del (p.Leu323ArgfsTer?)
n.3195_3205del
n.3093_3103del
n.2506_2516del
n.2404_2414del
 gnomAD v4
9g.114404047C>ACA374619943WHRNc.611G>T (p.Ser204Ile)
c.2267G>T (p.Ser756Ile)
c.1240G>T
n.2148G>T
c.1118G>T (p.Ser373Ile)
c.1214G>T (p.Ser405Ile)
c.2264G>T (p.Ser755Ile)
c.1604G>T (p.Ser535Ile)
c.2300G>T (p.Ser767Ile)
c.2297G>T (p.Ser766Ile)
c.2174G>T (p.Ser725Ile)
c.2057G>T (p.Ser686Ile)
c.977G>T (p.Ser326Ile)
n.3204G>T
n.3102G>T
n.2515G>T
n.2413G>T
9g.114404047C>GCA374619944WHRNc.611G>C (p.Ser204Thr)
c.2267G>C (p.Ser756Thr)
c.1240G>C
n.2148G>C
c.1118G>C (p.Ser373Thr)
c.1214G>C (p.Ser405Thr)
c.2264G>C (p.Ser755Thr)
c.1604G>C (p.Ser535Thr)
c.2300G>C (p.Ser767Thr)
c.2297G>C (p.Ser766Thr)
c.2174G>C (p.Ser725Thr)
c.2057G>C (p.Ser686Thr)
c.977G>C (p.Ser326Thr)
n.3204G>C
n.3102G>C
n.2515G>C
n.2413G>C
9g.114404047C>TCA374619945WHRNc.611G>A (p.Ser204Asn)
c.2267G>A (p.Ser756Asn)
c.1240G>A
n.2148G>A
c.1118G>A (p.Ser373Asn)
c.1214G>A (p.Ser405Asn)
c.2264G>A (p.Ser755Asn)
c.1604G>A (p.Ser535Asn)
c.2300G>A (p.Ser767Asn)
c.2297G>A (p.Ser766Asn)
c.2174G>A (p.Ser725Asn)
c.2057G>A (p.Ser686Asn)
c.977G>A (p.Ser326Asn)
n.3204G>A
n.3102G>A
n.2515G>A
n.2413G>A
 gnomAD v4
9g.114404048T>ACA374619946WHRNc.610A>T (p.Ser204Cys)
c.2266A>T (p.Ser756Cys)
c.1239A>T
n.2147A>T
c.1117A>T (p.Ser373Cys)
c.1213A>T (p.Ser405Cys)
c.2263A>T (p.Ser755Cys)
c.1603A>T (p.Ser535Cys)
c.2299A>T (p.Ser767Cys)
c.2296A>T (p.Ser766Cys)
c.2173A>T (p.Ser725Cys)
c.2056A>T (p.Ser686Cys)
c.976A>T (p.Ser326Cys)
n.3203A>T
n.3101A>T
n.2514A>T
n.2412A>T
9g.114404048T>CCA374619947WHRNc.610A>G (p.Ser204Gly)
c.2266A>G (p.Ser756Gly)
c.1239A>G
n.2147A>G
c.1117A>G (p.Ser373Gly)
c.1213A>G (p.Ser405Gly)
c.2263A>G (p.Ser755Gly)
c.1603A>G (p.Ser535Gly)
c.2299A>G (p.Ser767Gly)
c.2296A>G (p.Ser766Gly)
c.2173A>G (p.Ser725Gly)
c.2056A>G (p.Ser686Gly)
c.976A>G (p.Ser326Gly)
n.3203A>G
n.3101A>G
n.2514A>G
n.2412A>G
9g.114404048T>GCA374619948WHRNc.610A>C (p.Ser204Arg)
c.2266A>C (p.Ser756Arg)
c.1239A>C
n.2147A>C
c.1117A>C (p.Ser373Arg)
c.1213A>C (p.Ser405Arg)
c.2263A>C (p.Ser755Arg)
c.1603A>C (p.Ser535Arg)
c.2299A>C (p.Ser767Arg)
c.2296A>C (p.Ser766Arg)
c.2173A>C (p.Ser725Arg)
c.2056A>C (p.Ser686Arg)
c.976A>C (p.Ser326Arg)
n.3203A>C
n.3101A>C
n.2514A>C
n.2412A>C
9g.114404049G>ACA466782012WHRNc.609C>T (p.Asp203=)
c.2265C>T (p.Asp755=)
c.1238C>T
n.2146C>T
c.1116C>T (p.Asp372=)
c.1212C>T (p.Asp404=)
c.2262C>T (p.Asp754=)
c.1602C>T (p.Asp534=)
c.2298C>T (p.Asp766=)
c.2295C>T (p.Asp765=)
c.2172C>T (p.Asp724=)
c.2055C>T (p.Asp685=)
c.975C>T (p.Asp325=)
n.3202C>T
n.3100C>T
n.2513C>T
n.2411C>T
9g.114404049G>CCA374619949WHRNc.609C>G (p.Asp203Glu)
c.2265C>G (p.Asp755Glu)
c.1238C>G
n.2146C>G
c.1116C>G (p.Asp372Glu)
c.1212C>G (p.Asp404Glu)
c.2262C>G (p.Asp754Glu)
c.1602C>G (p.Asp534Glu)
c.2298C>G (p.Asp766Glu)
c.2295C>G (p.Asp765Glu)
c.2172C>G (p.Asp724Glu)
c.2055C>G (p.Asp685Glu)
c.975C>G (p.Asp325Glu)
n.3202C>G
n.3100C>G
n.2513C>G
n.2411C>G
9g.114404049G>TCA374619950WHRNc.609C>A (p.Asp203Glu)
c.2265C>A (p.Asp755Glu)
c.1238C>A
n.2146C>A
c.1116C>A (p.Asp372Glu)
c.1212C>A (p.Asp404Glu)
c.2262C>A (p.Asp754Glu)
c.1602C>A (p.Asp534Glu)
c.2298C>A (p.Asp766Glu)
c.2295C>A (p.Asp765Glu)
c.2172C>A (p.Asp724Glu)
c.2055C>A (p.Asp685Glu)
c.975C>A (p.Asp325Glu)
n.3202C>A
n.3100C>A
n.2513C>A
n.2411C>A
9g.114404050T>ACA374619951WHRNc.608A>T (p.Asp203Val)
c.2264A>T (p.Asp755Val)
c.1237A>T
n.2145A>T
c.1115A>T (p.Asp372Val)
c.1211A>T (p.Asp404Val)
c.2261A>T (p.Asp754Val)
c.1601A>T (p.Asp534Val)
c.2297A>T (p.Asp766Val)
c.2294A>T (p.Asp765Val)
c.2171A>T (p.Asp724Val)
c.2054A>T (p.Asp685Val)
c.974A>T (p.Asp325Val)
n.3201A>T
n.3099A>T
n.2512A>T
n.2410A>T
9g.114404050T>CCA374619952WHRNc.608A>G (p.Asp203Gly)
c.2264A>G (p.Asp755Gly)
c.1237A>G
n.2145A>G
c.1115A>G (p.Asp372Gly)
c.1211A>G (p.Asp404Gly)
c.2261A>G (p.Asp754Gly)
c.1601A>G (p.Asp534Gly)
c.2297A>G (p.Asp766Gly)
c.2294A>G (p.Asp765Gly)
c.2171A>G (p.Asp724Gly)
c.2054A>G (p.Asp685Gly)
c.974A>G (p.Asp325Gly)
n.3201A>G
n.3099A>G
n.2512A>G
n.2410A>G
9g.114404050T>GCA374619953WHRNc.608A>C (p.Asp203Ala)
c.2264A>C (p.Asp755Ala)
c.1237A>C
n.2145A>C
c.1115A>C (p.Asp372Ala)
c.1211A>C (p.Asp404Ala)
c.2261A>C (p.Asp754Ala)
c.1601A>C (p.Asp534Ala)
c.2297A>C (p.Asp766Ala)
c.2294A>C (p.Asp765Ala)
c.2171A>C (p.Asp724Ala)
c.2054A>C (p.Asp685Ala)
c.974A>C (p.Asp325Ala)
n.3201A>C
n.3099A>C
n.2512A>C
n.2410A>C
9g.114404051C>ACA374619954WHRNc.607G>T (p.Asp203Tyr)
c.2263G>T (p.Asp755Tyr)
c.1236G>T
n.2144G>T
c.1114G>T (p.Asp372Tyr)
c.1210G>T (p.Asp404Tyr)
c.2260G>T (p.Asp754Tyr)
c.1600G>T (p.Asp534Tyr)
c.2296G>T (p.Asp766Tyr)
c.2293G>T (p.Asp765Tyr)
c.2170G>T (p.Asp724Tyr)
c.2053G>T (p.Asp685Tyr)
c.973G>T (p.Asp325Tyr)
n.3200G>T
n.3098G>T
n.2511G>T
n.2409G>T
9g.114404051C>GCA374619955WHRNc.607G>C (p.Asp203His)
c.2263G>C (p.Asp755His)
c.1236G>C
n.2144G>C
c.1114G>C (p.Asp372His)
c.1210G>C (p.Asp404His)
c.2260G>C (p.Asp754His)
c.1600G>C (p.Asp534His)
c.2296G>C (p.Asp766His)
c.2293G>C (p.Asp765His)
c.2170G>C (p.Asp724His)
c.2053G>C (p.Asp685His)
c.973G>C (p.Asp325His)
n.3200G>C
n.3098G>C
n.2511G>C
n.2409G>C
9g.114404051C>TCA374619956WHRNc.607G>A (p.Asp203Asn)
c.2263G>A (p.Asp755Asn)
c.1236G>A
n.2144G>A
c.1114G>A (p.Asp372Asn)
c.1210G>A (p.Asp404Asn)
c.2260G>A (p.Asp754Asn)
c.1600G>A (p.Asp534Asn)
c.2296G>A (p.Asp766Asn)
c.2293G>A (p.Asp765Asn)
c.2170G>A (p.Asp724Asn)
c.2053G>A (p.Asp685Asn)
c.973G>A (p.Asp325Asn)
n.3200G>A
n.3098G>A
n.2511G>A
n.2409G>A
9g.114404052C>ACA466782013WHRNc.606G>T (p.Ser202=)
c.2262G>T (p.Ser754=)
c.1235G>T
n.2143G>T
c.1113G>T (p.Ser371=)
c.1209G>T (p.Ser403=)
c.2259G>T (p.Ser753=)
c.1599G>T (p.Ser533=)
c.2295G>T (p.Ser765=)
c.2292G>T (p.Ser764=)
c.2169G>T (p.Ser723=)
c.2052G>T (p.Ser684=)
c.972G>T (p.Ser324=)
n.3199G>T
n.3097G>T
n.2510G>T
n.2408G>T
 gnomAD v4
9g.114404052C=CA1873825918WHRNc.606G= (p.Ser202=)
c.2262G= (p.Ser754=)
c.1235G=
n.2143G=
c.1113G= (p.Ser371=)
c.1209G= (p.Ser403=)
c.2259G= (p.Ser753=)
c.1599G= (p.Ser533=)
c.2295G= (p.Ser765=)
c.2292G= (p.Ser764=)
c.2169G= (p.Ser723=)
c.2052G= (p.Ser684=)
c.972G= (p.Ser324=)
n.3199G=
n.3097G=
n.2510G=
n.2408G=
9g.114404052C>GCA466782014WHRNc.606G>C (p.Ser202=)
c.2262G>C (p.Ser754=)
c.1235G>C
n.2143G>C
c.1113G>C (p.Ser371=)
c.1209G>C (p.Ser403=)
c.2259G>C (p.Ser753=)
c.1599G>C (p.Ser533=)
c.2295G>C (p.Ser765=)
c.2292G>C (p.Ser764=)
c.2169G>C (p.Ser723=)
c.2052G>C (p.Ser684=)
c.972G>C (p.Ser324=)
n.3199G>C
n.3097G>C
n.2510G>C
n.2408G>C
9g.114404052C>TCA5205679WHRNc.606G>A (p.Ser202=)
c.2262G>A (p.Ser754=)
c.1235G>A
n.2143G>A
c.1113G>A (p.Ser371=)
c.1209G>A (p.Ser403=)
c.2259G>A (p.Ser753=)
c.1599G>A (p.Ser533=)
c.2295G>A (p.Ser765=)
c.2292G>A (p.Ser764=)
c.2169G>A (p.Ser723=)
c.2052G>A (p.Ser684=)
c.972G>A (p.Ser324=)
n.3199G>A
n.3097G>A
n.2510G>A
n.2408G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404053G>ACA5205680WHRNc.605C>T (p.Ser202Leu)
c.2261C>T (p.Ser754Leu)
c.1234C>T
n.2142C>T
c.1112C>T (p.Ser371Leu)
c.1208C>T (p.Ser403Leu)
c.2258C>T (p.Ser753Leu)
c.1598C>T (p.Ser533Leu)
c.2294C>T (p.Ser765Leu)
c.2291C>T (p.Ser764Leu)
c.2168C>T (p.Ser723Leu)
c.2051C>T (p.Ser684Leu)
c.971C>T (p.Ser324Leu)
n.3198C>T
n.3096C>T
n.2509C>T
n.2407C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114404053G>CCA374619957WHRNc.605C>G (p.Ser202Trp)
c.2261C>G (p.Ser754Trp)
c.1234C>G
n.2142C>G
c.1112C>G (p.Ser371Trp)
c.1208C>G (p.Ser403Trp)
c.2258C>G (p.Ser753Trp)
c.1598C>G (p.Ser533Trp)
c.2294C>G (p.Ser765Trp)
c.2291C>G (p.Ser764Trp)
c.2168C>G (p.Ser723Trp)
c.2051C>G (p.Ser684Trp)
c.971C>G (p.Ser324Trp)
n.3198C>G
n.3096C>G
n.2509C>G
n.2407C>G
9g.114404053G=CA1873825919WHRNc.605C= (p.Ser202=)
c.2261C= (p.Ser754=)
c.1234C=
n.2142C=
c.1112C= (p.Ser371=)
c.1208C= (p.Ser403=)
c.2258C= (p.Ser753=)
c.1598C= (p.Ser533=)
c.2294C= (p.Ser765=)
c.2291C= (p.Ser764=)
c.2168C= (p.Ser723=)
c.2051C= (p.Ser684=)
c.971C= (p.Ser324=)
n.3198C=
n.3096C=
n.2509C=
n.2407C=
9g.114404053G>TCA374619958WHRNc.605C>A (p.Ser202Ter)
c.2261C>A (p.Ser754Ter)
c.1234C>A
n.2142C>A
c.1112C>A (p.Ser371Ter)
c.1208C>A (p.Ser403Ter)
c.2258C>A (p.Ser753Ter)
c.1598C>A (p.Ser533Ter)
c.2294C>A (p.Ser765Ter)
c.2291C>A (p.Ser764Ter)
c.2168C>A (p.Ser723Ter)
c.2051C>A (p.Ser684Ter)
c.971C>A (p.Ser324Ter)
n.3198C>A
n.3096C>A
n.2509C>A
n.2407C>A

Number of alleles fetched