| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66241562A>C | CA475312702 | PACS1 | c.2565A>C (p.Ser855=) c.-52A>C (n.-52A>C) c.115A>C c.1173A>C (p.Ser391=) c.2244A>C (p.Ser748=) c.2235A>C (p.Ser745=) c.2226A>C (p.Ser742=) | |
| 11 | g.66241562A>G | CA475312703 | PACS1 | c.2565A>G (p.Ser855=) c.-52A>G (n.-52A>G) c.115A>G c.1173A>G (p.Ser391=) c.2244A>G (p.Ser748=) c.2235A>G (p.Ser745=) c.2226A>G (p.Ser742=) | |
| 11 | g.66241562A>T | CA475312704 | PACS1 | c.2565A>T (p.Ser855=) c.-52A>T (n.-52A>T) c.115A>T c.1173A>T (p.Ser391=) c.2244A>T (p.Ser748=) c.2235A>T (p.Ser745=) c.2226A>T (p.Ser742=) | |
| 11 | g.66241563G>A | CA381382681 | PACS1 | c.2566G>A (p.Val856Met) c.-51G>A (n.-51G>A) c.116G>A c.1174G>A (p.Val392Met) c.2245G>A (p.Val749Met) c.2236G>A (p.Val746Met) c.2227G>A (p.Val743Met) | |
| 11 | g.66241563G>C | CA381382682 | PACS1 | c.2566G>C (p.Val856Leu) c.-51G>C (n.-51G>C) c.116G>C c.1174G>C (p.Val392Leu) c.2245G>C (p.Val749Leu) c.2236G>C (p.Val746Leu) c.2227G>C (p.Val743Leu) | |
| 11 | g.66241563G= | CA1979644045 | PACS1 | c.2566G= (p.Val856=) c.-51G= (n.-51G=) c.116G= c.1174G= (p.Val392=) c.2245G= (p.Val749=) c.2236G= (p.Val746=) c.2227G= (p.Val743=) | |
| 11 | g.66241563G>T | CA6116903 | PACS1 | c.2566G>T (p.Val856Leu) c.-51G>T (n.-51G>T) c.116G>T c.1174G>T (p.Val392Leu) c.2245G>T (p.Val749Leu) c.2236G>T (p.Val746Leu) c.2227G>T (p.Val743Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66241564T>A | CA381382689 | PACS1 | c.2567T>A (p.Val856Glu) c.-50T>A (n.-50T>A) c.117T>A c.1175T>A (p.Val392Glu) c.2246T>A (p.Val749Glu) c.2237T>A (p.Val746Glu) c.2228T>A (p.Val743Glu) | |
| 11 | g.66241564T>C | CA381382691 | PACS1 | c.2567T>C (p.Val856Ala) c.-50T>C (n.-50T>C) c.117T>C c.1175T>C (p.Val392Ala) c.2246T>C (p.Val749Ala) c.2237T>C (p.Val746Ala) c.2228T>C (p.Val743Ala) | COSMIC |
| 11 | g.66241564T>G | CA381382694 | PACS1 | c.2567T>G (p.Val856Gly) c.-50T>G (n.-50T>G) c.117T>G c.1175T>G (p.Val392Gly) c.2246T>G (p.Val749Gly) c.2237T>G (p.Val746Gly) c.2228T>G (p.Val743Gly) | |
| 11 | g.66241565G>A | CA475312705 | PACS1 | c.2568G>A (p.Val856=) c.-49G>A (n.-49G>A) c.118G>A c.1176G>A (p.Val392=) c.2247G>A (p.Val749=) c.2238G>A (p.Val746=) c.2229G>A (p.Val743=) | |
| 11 | g.66241565G>C | CA475312706 | PACS1 | c.2568G>C (p.Val856=) c.-49G>C (n.-49G>C) c.118G>C c.1176G>C (p.Val392=) c.2247G>C (p.Val749=) c.2238G>C (p.Val746=) c.2229G>C (p.Val743=) | |
| 11 | g.66241565G>T | CA475312707 | PACS1 | c.2568G>T (p.Val856=) c.-49G>T (n.-49G>T) c.118G>T c.1176G>T (p.Val392=) c.2247G>T (p.Val749=) c.2238G>T (p.Val746=) c.2229G>T (p.Val743=) | |
| 11 | g.66241566C>A | CA381382700 | PACS1 | c.2569C>A (p.Gln857Lys) c.-48C>A (n.-48C>A) c.119C>A c.1177C>A (p.Gln393Lys) c.2248C>A (p.Gln750Lys) c.2239C>A (p.Gln747Lys) c.2230C>A (p.Gln744Lys) | |
| 11 | g.66241566C>G | CA381382701 | PACS1 | c.2569C>G (p.Gln857Glu) c.-48C>G (n.-48C>G) c.119C>G c.1177C>G (p.Gln393Glu) c.2248C>G (p.Gln750Glu) c.2239C>G (p.Gln747Glu) c.2230C>G (p.Gln744Glu) | |
| 11 | g.66241566C>T | CA381382703 | PACS1 | c.2569C>T (p.Gln857Ter) c.-48C>T (n.-48C>T) c.119C>T c.1177C>T (p.Gln393Ter) c.2248C>T (p.Gln750Ter) c.2239C>T (p.Gln747Ter) c.2230C>T (p.Gln744Ter) | |
| 11 | g.66241567A>C | CA381382710 | PACS1 | c.2570A>C (p.Gln857Pro) c.-47A>C (n.-47A>C) c.120A>C c.1178A>C (p.Gln393Pro) c.2249A>C (p.Gln750Pro) c.2240A>C (p.Gln747Pro) c.2231A>C (p.Gln744Pro) | |
| 11 | g.66241567A>G | CA381382713 | PACS1 | c.2570A>G (p.Gln857Arg) c.-47A>G (n.-47A>G) c.120A>G c.1178A>G (p.Gln393Arg) c.2249A>G (p.Gln750Arg) c.2240A>G (p.Gln747Arg) c.2231A>G (p.Gln744Arg) | |
| 11 | g.66241567A>T | CA381382711 | PACS1 | c.2570A>T (p.Gln857Leu) c.-47A>T (n.-47A>T) c.120A>T c.1178A>T (p.Gln393Leu) c.2249A>T (p.Gln750Leu) c.2240A>T (p.Gln747Leu) c.2231A>T (p.Gln744Leu) | |
| 11 | g.66241568G>A | CA475312708 | PACS1 | c.2571G>A (p.Gln857=) c.-46G>A (n.-46G>A) c.121G>A c.1179G>A (p.Gln393=) c.2250G>A (p.Gln750=) c.2241G>A (p.Gln747=) c.2232G>A (p.Gln744=) | |
| 11 | g.66241568G>C | CA6116904 | PACS1 | c.2571G>C (p.Gln857His) c.-46G>C (n.-46G>C) c.121G>C c.1179G>C (p.Gln393His) c.2250G>C (p.Gln750His) c.2241G>C (p.Gln747His) c.2232G>C (p.Gln744His) | dbSNP ExAC gnomAD v2 |
| 11 | g.66241568G= | CA1979644046 | PACS1 | c.2571G= (p.Gln857=) c.-46G= (n.-46G=) c.121G= c.1179G= (p.Gln393=) c.2250G= (p.Gln750=) c.2241G= (p.Gln747=) c.2232G= (p.Gln744=) | |
| 11 | g.66241568G>T | CA381382719 | PACS1 | c.2571G>T (p.Gln857His) c.-46G>T (n.-46G>T) c.121G>T c.1179G>T (p.Gln393His) c.2250G>T (p.Gln750His) c.2241G>T (p.Gln747His) c.2232G>T (p.Gln744His) | |
| 11 | g.66241569G>A | CA381382721 | PACS1 | c.2572G>A (p.Val858Met) c.-45G>A (n.-45G>A) c.122G>A c.1180G>A (p.Val394Met) c.2251G>A (p.Val751Met) c.2242G>A (p.Val748Met) c.2233G>A (p.Val745Met) | |
| 11 | g.66241569G>C | CA381382722 | PACS1 | c.2572G>C (p.Val858Leu) c.-45G>C (n.-45G>C) c.122G>C c.1180G>C (p.Val394Leu) c.2251G>C (p.Val751Leu) c.2242G>C (p.Val748Leu) c.2233G>C (p.Val745Leu) | gnomAD v4 |
| 11 | g.66241569G= | CA1979644047 | PACS1 | c.2572G= (p.Val858=) c.-45G= (n.-45G=) c.122G= c.1180G= (p.Val394=) c.2251G= (p.Val751=) c.2242G= (p.Val748=) c.2233G= (p.Val745=) | |
| 11 | g.66241569G>T | CA6116905 | PACS1 | c.2572G>T (p.Val858Leu) c.-45G>T (n.-45G>T) c.122G>T c.1180G>T (p.Val394Leu) c.2251G>T (p.Val751Leu) c.2242G>T (p.Val748Leu) c.2233G>T (p.Val745Leu) | dbSNP ExAC gnomAD v2 |
| 11 | g.66241570T>A | CA381382730 | PACS1 | c.2573T>A (p.Val858Glu) c.-44T>A (n.-44T>A) c.123T>A c.1181T>A (p.Val394Glu) c.2252T>A (p.Val751Glu) c.2243T>A (p.Val748Glu) c.2234T>A (p.Val745Glu) | |
| 11 | g.66241570T>C | CA381382732 | PACS1 | c.2573T>C (p.Val858Ala) c.-44T>C (n.-44T>C) c.123T>C c.1181T>C (p.Val394Ala) c.2252T>C (p.Val751Ala) c.2243T>C (p.Val748Ala) c.2234T>C (p.Val745Ala) | |
| 11 | g.66241570T>G | CA381382734 | PACS1 | c.2573T>G (p.Val858Gly) c.-44T>G (n.-44T>G) c.123T>G c.1181T>G (p.Val394Gly) c.2252T>G (p.Val751Gly) c.2243T>G (p.Val748Gly) c.2234T>G (p.Val745Gly) | |
| 11 | g.66241571G>A | CA475312709 | PACS1 | c.2574G>A (p.Val858=) c.-43G>A (n.-43G>A) c.124G>A c.1182G>A (p.Val394=) c.2253G>A (p.Val751=) c.2244G>A (p.Val748=) c.2235G>A (p.Val745=) | |
| 11 | g.66241571G>C | CA475312710 | PACS1 | c.2574G>C (p.Val858=) c.-43G>C (n.-43G>C) c.124G>C c.1182G>C (p.Val394=) c.2253G>C (p.Val751=) c.2244G>C (p.Val748=) c.2235G>C (p.Val745=) | |
| 11 | g.66241571G>T | CA475312711 | PACS1 | c.2574G>T (p.Val858=) c.-43G>T (n.-43G>T) c.124G>T c.1182G>T (p.Val394=) c.2253G>T (p.Val751=) c.2244G>T (p.Val748=) c.2235G>T (p.Val745=) | |
| 11 | g.66241572T>A | CA381382735 | PACS1 | c.2575T>A (p.Ser859Thr) c.-42T>A (n.-42T>A) c.125T>A c.1183T>A (p.Ser395Thr) c.2254T>A (p.Ser752Thr) c.2245T>A (p.Ser749Thr) c.2236T>A (p.Ser746Thr) | |
| 11 | g.66241572T>C | CA381382737 | PACS1 | c.2575T>C (p.Ser859Pro) c.-42T>C (n.-42T>C) c.125T>C c.1183T>C (p.Ser395Pro) c.2254T>C (p.Ser752Pro) c.2245T>C (p.Ser749Pro) c.2236T>C (p.Ser746Pro) | |
| 11 | g.66241572T>G | CA381382739 | PACS1 | c.2575T>G (p.Ser859Ala) c.-42T>G (n.-42T>G) c.125T>G c.1183T>G (p.Ser395Ala) c.2254T>G (p.Ser752Ala) c.2245T>G (p.Ser749Ala) c.2236T>G (p.Ser746Ala) | |
| 11 | g.66241573C>A | CA381382748 | PACS1 | c.2576C>A (p.Ser859Tyr) c.-41C>A (n.-41C>A) c.126C>A c.1184C>A (p.Ser395Tyr) c.2255C>A (p.Ser752Tyr) c.2246C>A (p.Ser749Tyr) c.2237C>A (p.Ser746Tyr) | |
| 11 | g.66241573C>G | CA381382744 | PACS1 | c.2576C>G (p.Ser859Cys) c.-41C>G (n.-41C>G) c.126C>G c.1184C>G (p.Ser395Cys) c.2255C>G (p.Ser752Cys) c.2246C>G (p.Ser749Cys) c.2237C>G (p.Ser746Cys) | |
| 11 | g.66241573C>T | CA381382741 | PACS1 | c.2576C>T (p.Ser859Phe) c.-41C>T (n.-41C>T) c.126C>T c.1184C>T (p.Ser395Phe) c.2255C>T (p.Ser752Phe) c.2246C>T (p.Ser749Phe) c.2237C>T (p.Ser746Phe) | |
| 11 | g.66241574C>A | CA475312712 | PACS1 | c.2577C>A (p.Ser859=) c.-40C>A (n.-40C>A) c.127C>A c.1185C>A (p.Ser395=) c.2256C>A (p.Ser752=) c.2247C>A (p.Ser749=) c.2238C>A (p.Ser746=) | |
| 11 | g.66241574C>G | CA475312714 | PACS1 | c.2577C>G (p.Ser859=) c.-40C>G (n.-40C>G) c.127C>G c.1185C>G (p.Ser395=) c.2256C>G (p.Ser752=) c.2247C>G (p.Ser749=) c.2238C>G (p.Ser746=) | |
| 11 | g.66241574C>T | CA475312713 | PACS1 | c.2577C>T (p.Ser859=) c.-40C>T (n.-40C>T) c.127C>T c.1185C>T (p.Ser395=) c.2256C>T (p.Ser752=) c.2247C>T (p.Ser749=) c.2238C>T (p.Ser746=) | dbSNP |
| 11 | g.66241575C>A | CA381382755 | PACS1 | c.2578C>A (p.Arg860Ser) c.-39C>A (n.-39C>A) c.128C>A c.1186C>A (p.Arg396Ser) c.2257C>A (p.Arg753Ser) c.2248C>A (p.Arg750Ser) c.2239C>A (p.Arg747Ser) | gnomAD v4 |
| 11 | g.66241575C>G | CA381382759 | PACS1 | c.2578C>G (p.Arg860Gly) c.-39C>G (n.-39C>G) c.128C>G c.1186C>G (p.Arg396Gly) c.2257C>G (p.Arg753Gly) c.2248C>G (p.Arg750Gly) c.2239C>G (p.Arg747Gly) | |
| 11 | g.66241575C>T | CA381382765 | PACS1 | c.2578C>T (p.Arg860Cys) c.-39C>T (n.-39C>T) c.128C>T c.1186C>T (p.Arg396Cys) c.2257C>T (p.Arg753Cys) c.2248C>T (p.Arg750Cys) c.2239C>T (p.Arg747Cys) | |
| 11 | g.66241576G>A | CA224039519 | PACS1 | c.2579G>A (p.Arg860His) c.-38G>A (n.-38G>A) c.129G>A c.1187G>A (p.Arg396His) c.2258G>A (p.Arg753His) c.2249G>A (p.Arg750His) c.2240G>A (p.Arg747His) | dbSNP gnomAD v4 |
| 11 | g.66241576G>C | CA381382783 | PACS1 | c.2579G>C (p.Arg860Pro) c.-38G>C (n.-38G>C) c.129G>C c.1187G>C (p.Arg396Pro) c.2258G>C (p.Arg753Pro) c.2249G>C (p.Arg750Pro) c.2240G>C (p.Arg747Pro) | |
| 11 | g.66241576G= | CA1979644048 | PACS1 | c.2579G= (p.Arg860=) c.-38G= (n.-38G=) c.129G= c.1187G= (p.Arg396=) c.2258G= (p.Arg753=) c.2249G= (p.Arg750=) c.2240G= (p.Arg747=) | |
| 11 | g.66241576G>T | CA381382784 | PACS1 | c.2579G>T (p.Arg860Leu) c.-38G>T (n.-38G>T) c.129G>T c.1187G>T (p.Arg396Leu) c.2258G>T (p.Arg753Leu) c.2249G>T (p.Arg750Leu) c.2240G>T (p.Arg747Leu) | |
| 11 | g.66241577C>A | CA475312715 | PACS1 | c.2580C>A (p.Arg860=) c.-37C>A (n.-37C>A) c.130C>A c.1188C>A (p.Arg396=) c.2259C>A (p.Arg753=) c.2250C>A (p.Arg750=) c.2241C>A (p.Arg747=) | |
| 11 | g.66241577C= | CA1979644049 | PACS1 | c.2580C= (p.Arg860=) c.-37C= (n.-37C=) c.130C= c.1188C= (p.Arg396=) c.2259C= (p.Arg753=) c.2250C= (p.Arg750=) c.2241C= (p.Arg747=) | |
| 11 | g.66241577C>G | CA475312716 | PACS1 | c.2580C>G (p.Arg860=) c.-37C>G (n.-37C>G) c.130C>G c.1188C>G (p.Arg396=) c.2259C>G (p.Arg753=) c.2250C>G (p.Arg750=) c.2241C>G (p.Arg747=) | |
| 11 | g.66241577C>T | CA6116906 | PACS1 | c.2580C>T (p.Arg860=) c.-37C>T (n.-37C>T) c.130C>T c.1188C>T (p.Arg396=) c.2259C>T (p.Arg753=) c.2250C>T (p.Arg750=) c.2241C>T (p.Arg747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66241578C>A | CA381382812 | PACS1 | c.2581C>A (p.Leu861Met) c.-36C>A (n.-36C>A) c.131C>A c.1189C>A (p.Leu397Met) c.2260C>A (p.Leu754Met) c.2251C>A (p.Leu751Met) c.2242C>A (p.Leu748Met) | |
| 11 | g.66241578C= | CA1979644050 | PACS1 | c.2581C= (p.Leu861=) c.-36C= (n.-36C=) c.131C= c.1189C= (p.Leu397=) c.2260C= (p.Leu754=) c.2251C= (p.Leu751=) c.2242C= (p.Leu748=) | |
| 11 | g.66241578C>G | CA381382816 | PACS1 | c.2581C>G (p.Leu861Val) c.-36C>G (n.-36C>G) c.131C>G c.1189C>G (p.Leu397Val) c.2260C>G (p.Leu754Val) c.2251C>G (p.Leu751Val) c.2242C>G (p.Leu748Val) | |
| 11 | g.66241578C>T | CA6116907 | PACS1 | c.2581C>T (p.Leu861=) c.-36C>T (n.-36C>T) c.131C>T c.1189C>T (p.Leu397=) c.2260C>T (p.Leu754=) c.2251C>T (p.Leu751=) c.2242C>T (p.Leu748=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66241579T>A | CA381382826 | PACS1 | c.2582T>A (p.Leu861Gln) c.-35T>A (n.-35T>A) c.132T>A c.1190T>A (p.Leu397Gln) c.2261T>A (p.Leu754Gln) c.2252T>A (p.Leu751Gln) c.2243T>A (p.Leu748Gln) | |
| 11 | g.66241579T>C | CA381382837 | PACS1 | c.2582T>C (p.Leu861Pro) c.-35T>C (n.-35T>C) c.132T>C c.1190T>C (p.Leu397Pro) c.2261T>C (p.Leu754Pro) c.2252T>C (p.Leu751Pro) c.2243T>C (p.Leu748Pro) | |
| 11 | g.66241579T>G | CA381382854 | PACS1 | c.2582T>G (p.Leu861Arg) c.-35T>G (n.-35T>G) c.132T>G c.1190T>G (p.Leu397Arg) c.2261T>G (p.Leu754Arg) c.2252T>G (p.Leu751Arg) c.2243T>G (p.Leu748Arg) | |
| 11 | g.66241580G>A | CA475312717 | PACS1 | c.2583G>A (p.Leu861=) c.-34G>A (n.-34G>A) c.133G>A c.1191G>A (p.Leu397=) c.2262G>A (p.Leu754=) c.2253G>A (p.Leu751=) c.2244G>A (p.Leu748=) | |
| 11 | g.66241580G>C | CA475312718 | PACS1 | c.2583G>C (p.Leu861=) c.-34G>C (n.-34G>C) c.133G>C c.1191G>C (p.Leu397=) c.2262G>C (p.Leu754=) c.2253G>C (p.Leu751=) c.2244G>C (p.Leu748=) | |
| 11 | g.66241580G>T | CA475312719 | PACS1 | c.2583G>T (p.Leu861=) c.-34G>T (n.-34G>T) c.133G>T c.1191G>T (p.Leu397=) c.2262G>T (p.Leu754=) c.2253G>T (p.Leu751=) c.2244G>T (p.Leu748=) | |
| 11 | g.66241581C>A | CA381382876 | PACS1 | c.2584C>A (p.Pro862Thr) c.-33C>A (n.-33C>A) c.134C>A c.1192C>A (p.Pro398Thr) c.2263C>A (p.Pro755Thr) c.2254C>A (p.Pro752Thr) c.2245C>A (p.Pro749Thr) | gnomAD v4 |
| 11 | g.66241581C>G | CA381382877 | PACS1 | c.2584C>G (p.Pro862Ala) c.-33C>G (n.-33C>G) c.134C>G c.1192C>G (p.Pro398Ala) c.2263C>G (p.Pro755Ala) c.2254C>G (p.Pro752Ala) c.2245C>G (p.Pro749Ala) | |
| 11 | g.66241581C>T | CA381382873 | PACS1 | c.2584C>T (p.Pro862Ser) c.-33C>T (n.-33C>T) c.134C>T c.1192C>T (p.Pro398Ser) c.2263C>T (p.Pro755Ser) c.2254C>T (p.Pro752Ser) c.2245C>T (p.Pro749Ser) | |
| 11 | g.66241582C>A | CA381382884 | PACS1 | c.2585C>A (p.Pro862His) c.-32C>A (n.-32C>A) c.135C>A c.1193C>A (p.Pro398His) c.2264C>A (p.Pro755His) c.2255C>A (p.Pro752His) c.2246C>A (p.Pro749His) | |
| 11 | g.66241582C= | CA1979644051 | PACS1 | c.2585C= (p.Pro862=) c.-32C= (n.-32C=) c.135C= c.1193C= (p.Pro398=) c.2264C= (p.Pro755=) c.2255C= (p.Pro752=) c.2246C= (p.Pro749=) | |
| 11 | g.66241582C>G | CA381382883 | PACS1 | c.2585C>G (p.Pro862Arg) c.-32C>G (n.-32C>G) c.135C>G c.1193C>G (p.Pro398Arg) c.2264C>G (p.Pro755Arg) c.2255C>G (p.Pro752Arg) c.2246C>G (p.Pro749Arg) | |
| 11 | g.66241582C>T | CA224039547 | PACS1 | c.2585C>T (p.Pro862Leu) c.-32C>T (n.-32C>T) c.135C>T c.1193C>T (p.Pro398Leu) c.2264C>T (p.Pro755Leu) c.2255C>T (p.Pro752Leu) c.2246C>T (p.Pro749Leu) | dbSNP |
| 11 | g.66241583C>A | CA475312720 | PACS1 | c.2586C>A (p.Pro862=) c.-31C>A (n.-31C>A) c.136C>A c.1194C>A (p.Pro398=) c.2265C>A (p.Pro755=) c.2256C>A (p.Pro752=) c.2247C>A (p.Pro749=) | |
| 11 | g.66241583C>G | CA475312721 | PACS1 | c.2586C>G (p.Pro862=) c.-31C>G (n.-31C>G) c.136C>G c.1194C>G (p.Pro398=) c.2265C>G (p.Pro755=) c.2256C>G (p.Pro752=) c.2247C>G (p.Pro749=) | |
| 11 | g.66241583C>T | CA475312722 | PACS1 | c.2586C>T (p.Pro862=) c.-31C>T (n.-31C>T) c.136C>T c.1194C>T (p.Pro398=) c.2265C>T (p.Pro755=) c.2256C>T (p.Pro752=) c.2247C>T (p.Pro749=) | |
| 11 | g.66241584C>A | CA381382889 | PACS1 | c.2587C>A (p.His863Asn) c.-30C>A (n.-30C>A) c.137C>A c.1195C>A (p.His399Asn) c.2266C>A (p.His756Asn) c.2257C>A (p.His753Asn) c.2248C>A (p.His750Asn) | |
| 11 | g.66241584C>G | CA381382895 | PACS1 | c.2587C>G (p.His863Asp) c.-30C>G (n.-30C>G) c.137C>G c.1195C>G (p.His399Asp) c.2266C>G (p.His756Asp) c.2257C>G (p.His753Asp) c.2248C>G (p.His750Asp) | |
| 11 | g.66241584C>T | CA381382905 | PACS1 | c.2587C>T (p.His863Tyr) c.-30C>T (n.-30C>T) c.137C>T c.1195C>T (p.His399Tyr) c.2266C>T (p.His756Tyr) c.2257C>T (p.His753Tyr) c.2248C>T (p.His750Tyr) | |
| 11 | g.66241585A>C | CA381382909 | PACS1 | c.2588A>C (p.His863Pro) c.-29A>C (n.-29A>C) c.138A>C c.1196A>C (p.His399Pro) c.2267A>C (p.His756Pro) c.2258A>C (p.His753Pro) c.2249A>C (p.His750Pro) | |
| 11 | g.66241585A>G | CA381382911 | PACS1 | c.2588A>G (p.His863Arg) c.-29A>G (n.-29A>G) c.138A>G c.1196A>G (p.His399Arg) c.2267A>G (p.His756Arg) c.2258A>G (p.His753Arg) c.2249A>G (p.His750Arg) | |
| 11 | g.66241585A>T | CA381382914 | PACS1 | c.2588A>T (p.His863Leu) c.-29A>T (n.-29A>T) c.138A>T c.1196A>T (p.His399Leu) c.2267A>T (p.His756Leu) c.2258A>T (p.His753Leu) c.2249A>T (p.His750Leu) | |
| 11 | g.66241586del | CA2614450027 | PACS1 | c.2589del (p.His863GlnfsTer13) c.-28del (n.-28del) c.139del c.1197del (p.His399GlnfsTer13) c.2268del (p.His756GlnfsTer13) c.2259del (p.His753GlnfsTer13) c.2250del (p.His750GlnfsTer13) | gnomAD v4 |
| 11 | g.66241586T>A | CA381382921 | PACS1 | c.2589T>A (p.His863Gln) c.-28T>A (n.-28T>A) c.139T>A c.1197T>A (p.His399Gln) c.2268T>A (p.His756Gln) c.2259T>A (p.His753Gln) c.2250T>A (p.His750Gln) | |
| 11 | g.66241586T>C | CA475312725 | PACS1 | c.2589T>C (p.His863=) c.-28T>C (n.-28T>C) c.139T>C c.1197T>C (p.His399=) c.2268T>C (p.His756=) c.2259T>C (p.His753=) c.2250T>C (p.His750=) | |
| 11 | g.66241586T>G | CA381382925 | PACS1 | c.2589T>G (p.His863Gln) c.-28T>G (n.-28T>G) c.139T>G c.1197T>G (p.His399Gln) c.2268T>G (p.His756Gln) c.2259T>G (p.His753Gln) c.2250T>G (p.His750Gln) | |
| 11 | g.66241587A>C | CA381382932 | PACS1 | c.2590A>C (p.Ser864Arg) c.-27A>C (n.-27A>C) c.140A>C c.1198A>C (p.Ser400Arg) c.2269A>C (p.Ser757Arg) c.2260A>C (p.Ser754Arg) c.2251A>C (p.Ser751Arg) | |
| 11 | g.66241587A>G | CA381382935 | PACS1 | c.2590A>G (p.Ser864Gly) c.-27A>G (n.-27A>G) c.140A>G c.1198A>G (p.Ser400Gly) c.2269A>G (p.Ser757Gly) c.2260A>G (p.Ser754Gly) c.2251A>G (p.Ser751Gly) | |
| 11 | g.66241587A>T | CA381382939 | PACS1 | c.2590A>T (p.Ser864Cys) c.-27A>T (n.-27A>T) c.140A>T c.1198A>T (p.Ser400Cys) c.2269A>T (p.Ser757Cys) c.2260A>T (p.Ser754Cys) c.2251A>T (p.Ser751Cys) | |
| 11 | g.66241588G>A | CA381382956 | PACS1 | c.2591G>A (p.Ser864Asn) c.-26G>A (n.-26G>A) c.141G>A c.1199G>A (p.Ser400Asn) c.2270G>A (p.Ser757Asn) c.2261G>A (p.Ser754Asn) c.2252G>A (p.Ser751Asn) | ClinVar gnomAD v4 |
| 11 | g.66241588G>C | CA381382940 | PACS1 | c.2591G>C (p.Ser864Thr) c.-26G>C (n.-26G>C) c.141G>C c.1199G>C (p.Ser400Thr) c.2270G>C (p.Ser757Thr) c.2261G>C (p.Ser754Thr) c.2252G>C (p.Ser751Thr) | |
| 11 | g.66241588G>T | CA381382942 | PACS1 | c.2591G>T (p.Ser864Ile) c.-26G>T (n.-26G>T) c.141G>T c.1199G>T (p.Ser400Ile) c.2270G>T (p.Ser757Ile) c.2261G>T (p.Ser754Ile) c.2252G>T (p.Ser751Ile) | |
| 11 | g.66241589T>A | CA381382961 | PACS1 | c.2592T>A (p.Ser864Arg) c.-25T>A (n.-25T>A) c.142T>A c.1200T>A (p.Ser400Arg) c.2271T>A (p.Ser757Arg) c.2262T>A (p.Ser754Arg) c.2253T>A (p.Ser751Arg) | |
| 11 | g.66241589T>C | CA475312741 | PACS1 | c.2592T>C (p.Ser864=) c.-25T>C (n.-25T>C) c.142T>C c.1200T>C (p.Ser400=) c.2271T>C (p.Ser757=) c.2262T>C (p.Ser754=) c.2253T>C (p.Ser751=) | |
| 11 | g.66241589T>G | CA381382962 | PACS1 | c.2592T>G (p.Ser864Arg) c.-25T>G (n.-25T>G) c.142T>G c.1200T>G (p.Ser400Arg) c.2271T>G (p.Ser757Arg) c.2262T>G (p.Ser754Arg) c.2253T>G (p.Ser751Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66241589T= | CA1979644052 | PACS1 | c.2592T= (p.Ser864=) c.-25T= (n.-25T=) c.142T= c.1200T= (p.Ser400=) c.2271T= (p.Ser757=) c.2262T= (p.Ser754=) c.2253T= (p.Ser751=) | |
| 11 | g.66241590G>A | CA381382963 | PACS1 | c.2593G>A (p.Gly865Arg) c.-24G>A (n.-24G>A) c.143G>A c.1201G>A (p.Gly401Arg) c.2272G>A (p.Gly758Arg) c.2263G>A (p.Gly755Arg) c.2254G>A (p.Gly752Arg) | gnomAD v4 |
| 11 | g.66241590G>C | CA6116908 | PACS1 | c.2593G>C (p.Gly865Arg) c.-24G>C (n.-24G>C) c.143G>C c.1201G>C (p.Gly401Arg) c.2272G>C (p.Gly758Arg) c.2263G>C (p.Gly755Arg) c.2254G>C (p.Gly752Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66241590G= | CA1979644053 | PACS1 | c.2593G= (p.Gly865=) c.-24G= (n.-24G=) c.143G= c.1201G= (p.Gly401=) c.2272G= (p.Gly758=) c.2263G= (p.Gly755=) c.2254G= (p.Gly752=) | |
| 11 | g.66241590G>T | CA381382968 | PACS1 | c.2593G>T (p.Gly865Trp) c.-24G>T (n.-24G>T) c.143G>T c.1201G>T (p.Gly401Trp) c.2272G>T (p.Gly758Trp) c.2263G>T (p.Gly755Trp) c.2254G>T (p.Gly752Trp) | |
| 11 | g.66241591G>A | CA381382978 | PACS1 | c.2594G>A (p.Gly865Glu) c.-23G>A (n.-23G>A) c.144G>A c.1202G>A (p.Gly401Glu) c.2273G>A (p.Gly758Glu) c.2264G>A (p.Gly755Glu) c.2255G>A (p.Gly752Glu) | |
| 11 | g.66241591G>C | CA381382982 | PACS1 | c.2594G>C (p.Gly865Ala) c.-23G>C (n.-23G>C) c.144G>C c.1202G>C (p.Gly401Ala) c.2273G>C (p.Gly758Ala) c.2264G>C (p.Gly755Ala) c.2255G>C (p.Gly752Ala) | |
| 11 | g.66241591G>T | CA381382986 | PACS1 | c.2594G>T (p.Gly865Val) c.-23G>T (n.-23G>T) c.144G>T c.1202G>T (p.Gly401Val) c.2273G>T (p.Gly758Val) c.2264G>T (p.Gly755Val) c.2255G>T (p.Gly752Val) | |
| 11 | g.66241592G>A | CA475312762 | PACS1 | c.2595G>A (p.Gly865=) c.-22G>A (n.-22G>A) c.145G>A c.1203G>A (p.Gly401=) c.2274G>A (p.Gly758=) c.2265G>A (p.Gly755=) c.2256G>A (p.Gly752=) | dbSNP gnomAD v4 |
| 11 | g.66241592G>C | CA475312765 | PACS1 | c.2595G>C (p.Gly865=) c.-22G>C (n.-22G>C) c.145G>C c.1203G>C (p.Gly401=) c.2274G>C (p.Gly758=) c.2265G>C (p.Gly755=) c.2256G>C (p.Gly752=) | |
| 11 | g.66241592G= | CA1979644054 | PACS1 | c.2595G= (p.Gly865=) c.-22G= (n.-22G=) c.145G= c.1203G= (p.Gly401=) c.2274G= (p.Gly758=) c.2265G= (p.Gly755=) c.2256G= (p.Gly752=) | |
| 11 | g.66241592G>T | CA475312767 | PACS1 | c.2595G>T (p.Gly865=) c.-22G>T (n.-22G>T) c.145G>T c.1203G>T (p.Gly401=) c.2274G>T (p.Gly758=) c.2265G>T (p.Gly755=) c.2256G>T (p.Gly752=) | dbSNP gnomAD v4 |
| 11 | g.66241593G>A | CA381382996 | PACS1 | c.2596G>A (p.Glu866Lys) c.-21G>A (n.-21G>A) c.146G>A c.1204G>A (p.Glu402Lys) c.2275G>A (p.Glu759Lys) c.2266G>A (p.Glu756Lys) c.2257G>A (p.Glu753Lys) | |
| 11 | g.66241593G>C | CA381383000 | PACS1 | c.2596G>C (p.Glu866Gln) c.-21G>C (n.-21G>C) c.146G>C c.1204G>C (p.Glu402Gln) c.2275G>C (p.Glu759Gln) c.2266G>C (p.Glu756Gln) c.2257G>C (p.Glu753Gln) | |
| 11 | g.66241593G>T | CA381383003 | PACS1 | c.2596G>T (p.Glu866Ter) c.-21G>T (n.-21G>T) c.146G>T c.1204G>T (p.Glu402Ter) c.2275G>T (p.Glu759Ter) c.2266G>T (p.Glu756Ter) c.2257G>T (p.Glu753Ter) | |
| 11 | g.66241594A>C | CA381383014 | PACS1 | c.2597A>C (p.Glu866Ala) c.-20A>C (n.-20A>C) c.147A>C c.1205A>C (p.Glu402Ala) c.2276A>C (p.Glu759Ala) c.2267A>C (p.Glu756Ala) c.2258A>C (p.Glu753Ala) | |
| 11 | g.66241594A>G | CA381383019 | PACS1 | c.2597A>G (p.Glu866Gly) c.-20A>G (n.-20A>G) c.147A>G c.1205A>G (p.Glu402Gly) c.2276A>G (p.Glu759Gly) c.2267A>G (p.Glu756Gly) c.2258A>G (p.Glu753Gly) | |
| 11 | g.66241594A>T | CA381383011 | PACS1 | c.2597A>T (p.Glu866Val) c.-20A>T (n.-20A>T) c.147A>T c.1205A>T (p.Glu402Val) c.2276A>T (p.Glu759Val) c.2267A>T (p.Glu756Val) c.2258A>T (p.Glu753Val) | |
| 11 | g.66241595G>A | CA475312790 | PACS1 | c.2598G>A (p.Glu866=) c.-19G>A (n.-19G>A) c.148G>A c.1206G>A (p.Glu402=) c.2277G>A (p.Glu759=) c.2268G>A (p.Glu756=) c.2259G>A (p.Glu753=) | |
| 11 | g.66241595G>C | CA381383022 | PACS1 | c.2598G>C (p.Glu866Asp) c.-19G>C (n.-19G>C) c.148G>C c.1206G>C (p.Glu402Asp) c.2277G>C (p.Glu759Asp) c.2268G>C (p.Glu756Asp) c.2259G>C (p.Glu753Asp) | |
| 11 | g.66241595G>T | CA381383026 | PACS1 | c.2598G>T (p.Glu866Asp) c.-19G>T (n.-19G>T) c.148G>T c.1206G>T (p.Glu402Asp) c.2277G>T (p.Glu759Asp) c.2268G>T (p.Glu756Asp) c.2259G>T (p.Glu753Asp) | |
| 11 | g.66241596G>A | CA381383031 | PACS1 | c.2599G>A (p.Ala867Thr) c.-18G>A (n.-18G>A) c.149G>A c.1207G>A (p.Ala403Thr) c.2278G>A (p.Ala760Thr) c.2269G>A (p.Ala757Thr) c.2260G>A (p.Ala754Thr) | gnomAD v4 |
| 11 | g.66241596G>C | CA381383036 | PACS1 | c.2599G>C (p.Ala867Pro) c.-18G>C (n.-18G>C) c.149G>C c.1207G>C (p.Ala403Pro) c.2278G>C (p.Ala760Pro) c.2269G>C (p.Ala757Pro) c.2260G>C (p.Ala754Pro) | |
| 11 | g.66241596G>T | CA381383038 | PACS1 | c.2599G>T (p.Ala867Ser) c.-18G>T (n.-18G>T) c.149G>T c.1207G>T (p.Ala403Ser) c.2278G>T (p.Ala760Ser) c.2269G>T (p.Ala757Ser) c.2260G>T (p.Ala754Ser) | |
| 11 | g.66241597C>A | CA381383053 | PACS1 | c.2600C>A (p.Ala867Asp) c.-17C>A (n.-17C>A) c.150C>A c.1208C>A (p.Ala403Asp) c.2279C>A (p.Ala760Asp) c.2270C>A (p.Ala757Asp) c.2261C>A (p.Ala754Asp) | |
| 11 | g.66241597C>G | CA381383048 | PACS1 | c.2600C>G (p.Ala867Gly) c.-17C>G (n.-17C>G) c.150C>G c.1208C>G (p.Ala403Gly) c.2279C>G (p.Ala760Gly) c.2270C>G (p.Ala757Gly) c.2261C>G (p.Ala754Gly) | |
| 11 | g.66241597C>T | CA381383044 | PACS1 | c.2600C>T (p.Ala867Val) c.-17C>T (n.-17C>T) c.150C>T c.1208C>T (p.Ala403Val) c.2279C>T (p.Ala760Val) c.2270C>T (p.Ala757Val) c.2261C>T (p.Ala754Val) | gnomAD v4 |
| 11 | g.66241598C>A | CA475312814 | PACS1 | c.2601C>A (p.Ala867=) c.-16C>A (n.-16C>A) c.151C>A c.1209C>A (p.Ala403=) c.2280C>A (p.Ala760=) c.2271C>A (p.Ala757=) c.2262C>A (p.Ala754=) | |
| 11 | g.66241598C>G | CA475312815 | PACS1 | c.2601C>G (p.Ala867=) c.-16C>G (n.-16C>G) c.151C>G c.1209C>G (p.Ala403=) c.2280C>G (p.Ala760=) c.2271C>G (p.Ala757=) c.2262C>G (p.Ala754=) | |
| 11 | g.66241598C>T | CA475312817 | PACS1 | c.2601C>T (p.Ala867=) c.-16C>T (n.-16C>T) c.151C>T c.1209C>T (p.Ala403=) c.2280C>T (p.Ala760=) c.2271C>T (p.Ala757=) c.2262C>T (p.Ala754=) | |
| 11 | g.66241599C>A | CA6116909 | PACS1 | c.2602C>A (p.Gln868Lys) c.-15C>A (n.-15C>A) c.152C>A c.1210C>A (p.Gln404Lys) c.2281C>A (p.Gln761Lys) c.2272C>A (p.Gln758Lys) c.2263C>A (p.Gln755Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66241599C= | CA1979644055 | PACS1 | c.2602C= (p.Gln868=) c.-15C= (n.-15C=) c.152C= c.1210C= (p.Gln404=) c.2281C= (p.Gln761=) c.2272C= (p.Gln758=) c.2263C= (p.Gln755=) | |
| 11 | g.66241599C>G | CA381383059 | PACS1 | c.2602C>G (p.Gln868Glu) c.-15C>G (n.-15C>G) c.152C>G c.1210C>G (p.Gln404Glu) c.2281C>G (p.Gln761Glu) c.2272C>G (p.Gln758Glu) c.2263C>G (p.Gln755Glu) | gnomAD v4 |
| 11 | g.66241599C>T | CA381383061 | PACS1 | c.2602C>T (p.Gln868Ter) c.-15C>T (n.-15C>T) c.152C>T c.1210C>T (p.Gln404Ter) c.2281C>T (p.Gln761Ter) c.2272C>T (p.Gln758Ter) c.2263C>T (p.Gln755Ter) | |
| 11 | g.66241600A>C | CA381383065 | PACS1 | c.2603A>C (p.Gln868Pro) c.-14A>C (n.-14A>C) c.153A>C c.1211A>C (p.Gln404Pro) c.2282A>C (p.Gln761Pro) c.2273A>C (p.Gln758Pro) c.2264A>C (p.Gln755Pro) | |
| 11 | g.66241600A>G | CA381383066 | PACS1 | c.2603A>G (p.Gln868Arg) c.-14A>G (n.-14A>G) c.153A>G c.1211A>G (p.Gln404Arg) c.2282A>G (p.Gln761Arg) c.2273A>G (p.Gln758Arg) c.2264A>G (p.Gln755Arg) | |
| 11 | g.66241600A>T | CA381383067 | PACS1 | c.2603A>T (p.Gln868Leu) c.-14A>T (n.-14A>T) c.153A>T c.1211A>T (p.Gln404Leu) c.2282A>T (p.Gln761Leu) c.2273A>T (p.Gln758Leu) c.2264A>T (p.Gln755Leu) | |
| 11 | g.66241601G>A | CA224039561 | PACS1 | c.2604G>A (p.Gln868=) c.-13G>A (n.-13G>A) c.154G>A c.1212G>A (p.Gln404=) c.2283G>A (p.Gln761=) c.2274G>A (p.Gln758=) c.2265G>A (p.Gln755=) | dbSNP gnomAD v4 |
| 11 | g.66241601G>C | CA381383076 | PACS1 | c.2604G>C (p.Gln868His) c.-13G>C (n.-13G>C) c.154G>C c.1212G>C (p.Gln404His) c.2283G>C (p.Gln761His) c.2274G>C (p.Gln758His) c.2265G>C (p.Gln755His) | |
| 11 | g.66241601G= | CA1979644056 | PACS1 | c.2604G= (p.Gln868=) c.-13G= (n.-13G=) c.154G= c.1212G= (p.Gln404=) c.2283G= (p.Gln761=) c.2274G= (p.Gln758=) c.2265G= (p.Gln755=) | |
| 11 | g.66241601G>T | CA381383073 | PACS1 | c.2604G>T (p.Gln868His) c.-13G>T (n.-13G>T) c.154G>T c.1212G>T (p.Gln404His) c.2283G>T (p.Gln761His) c.2274G>T (p.Gln758His) c.2265G>T (p.Gln755His) | |
| 11 | g.66241602C>A | CA381383079 | PACS1 | c.2605C>A (p.Leu869Ile) c.-12C>A (n.-12C>A) c.155C>A c.1213C>A (p.Leu405Ile) c.2284C>A (p.Leu762Ile) c.2275C>A (p.Leu759Ile) c.2266C>A (p.Leu756Ile) | ClinVar dbSNP |
| 11 | g.66241602C= | CA1979644057 | PACS1 | c.2605C= (p.Leu869=) c.-12C= (n.-12C=) c.155C= c.1213C= (p.Leu405=) c.2284C= (p.Leu762=) c.2275C= (p.Leu759=) c.2266C= (p.Leu756=) | |
| 11 | g.66241602C>G | CA381383083 | PACS1 | c.2605C>G (p.Leu869Val) c.-12C>G (n.-12C>G) c.155C>G c.1213C>G (p.Leu405Val) c.2284C>G (p.Leu762Val) c.2275C>G (p.Leu759Val) c.2266C>G (p.Leu756Val) | |
| 11 | g.66241602C>T | CA381383086 | PACS1 | c.2605C>T (p.Leu869Phe) c.-12C>T (n.-12C>T) c.155C>T c.1213C>T (p.Leu405Phe) c.2284C>T (p.Leu762Phe) c.2275C>T (p.Leu759Phe) c.2266C>T (p.Leu756Phe) | |
| 11 | g.66241603T>A | CA381383092 | PACS1 | c.2606T>A (p.Leu869His) c.-11T>A (n.-11T>A) c.156T>A c.1214T>A (p.Leu405His) c.2285T>A (p.Leu762His) c.2276T>A (p.Leu759His) c.2267T>A (p.Leu756His) | |
| 11 | g.66241603T>C | CA381383096 | PACS1 | c.2606T>C (p.Leu869Pro) c.-11T>C (n.-11T>C) c.156T>C c.1214T>C (p.Leu405Pro) c.2285T>C (p.Leu762Pro) c.2276T>C (p.Leu759Pro) c.2267T>C (p.Leu756Pro) | gnomAD v4 |
| 11 | g.66241603T>G | CA381383099 | PACS1 | c.2606T>G (p.Leu869Arg) c.-11T>G (n.-11T>G) c.156T>G c.1214T>G (p.Leu405Arg) c.2285T>G (p.Leu762Arg) c.2276T>G (p.Leu759Arg) c.2267T>G (p.Leu756Arg) | |
| 11 | g.66241604T>A | CA475312859 | PACS1 | c.2607T>A (p.Leu869=) c.-10T>A (n.-10T>A) c.157T>A c.1215T>A (p.Leu405=) c.2286T>A (p.Leu762=) c.2277T>A (p.Leu759=) c.2268T>A (p.Leu756=) | |
| 11 | g.66241604T>C | CA475312861 | PACS1 | c.2607T>C (p.Leu869=) c.-10T>C (n.-10T>C) c.157T>C c.1215T>C (p.Leu405=) c.2286T>C (p.Leu762=) c.2277T>C (p.Leu759=) c.2268T>C (p.Leu756=) | |
| 11 | g.66241604T>G | CA475312863 | PACS1 | c.2607T>G (p.Leu869=) c.-10T>G (n.-10T>G) c.157T>G c.1215T>G (p.Leu405=) c.2286T>G (p.Leu762=) c.2277T>G (p.Leu759=) c.2268T>G (p.Leu756=) | |
| 11 | g.66241605T>A | CA381383102 | PACS1 | c.2608T>A (p.Ser870Thr) c.-9T>A (n.-9T>A) c.158T>A c.1216T>A (p.Ser406Thr) c.2287T>A (p.Ser763Thr) c.2278T>A (p.Ser760Thr) c.2269T>A (p.Ser757Thr) | |
| 11 | g.66241605T>C | CA381383103 | PACS1 | c.2608T>C (p.Ser870Pro) c.-9T>C (n.-9T>C) c.158T>C c.1216T>C (p.Ser406Pro) c.2287T>C (p.Ser763Pro) c.2278T>C (p.Ser760Pro) c.2269T>C (p.Ser757Pro) | |
| 11 | g.66241605T>G | CA381383104 | PACS1 | c.2608T>G (p.Ser870Ala) c.-9T>G (n.-9T>G) c.158T>G c.1216T>G (p.Ser406Ala) c.2287T>G (p.Ser763Ala) c.2278T>G (p.Ser760Ala) c.2269T>G (p.Ser757Ala) | COSMIC |
| 11 | g.66241606C>A | CA381383106 | PACS1 | c.2609C>A (p.Ser870Tyr) c.-8C>A (n.-8C>A) c.159C>A c.1217C>A (p.Ser406Tyr) c.2288C>A (p.Ser763Tyr) c.2279C>A (p.Ser760Tyr) c.2270C>A (p.Ser757Tyr) | |
| 11 | g.66241606C>G | CA381383108 | PACS1 | c.2609C>G (p.Ser870Cys) c.-8C>G (n.-8C>G) c.159C>G c.1217C>G (p.Ser406Cys) c.2288C>G (p.Ser763Cys) c.2279C>G (p.Ser760Cys) c.2270C>G (p.Ser757Cys) | |
| 11 | g.66241606C>T | CA381383112 | PACS1 | c.2609C>T (p.Ser870Phe) c.-8C>T (n.-8C>T) c.159C>T c.1217C>T (p.Ser406Phe) c.2288C>T (p.Ser763Phe) c.2279C>T (p.Ser760Phe) c.2270C>T (p.Ser757Phe) | ClinVar gnomAD v4 |
| 11 | g.66241607T>A | CA475312886 | PACS1 | c.2610T>A (p.Ser870=) c.-7T>A (n.-7T>A) c.160T>A c.1218T>A (p.Ser406=) c.2289T>A (p.Ser763=) c.2280T>A (p.Ser760=) c.2271T>A (p.Ser757=) | |
| 11 | g.66241607T>C | CA475312890 | PACS1 | c.2610T>C (p.Ser870=) c.-7T>C (n.-7T>C) c.160T>C c.1218T>C (p.Ser406=) c.2289T>C (p.Ser763=) c.2280T>C (p.Ser760=) c.2271T>C (p.Ser757=) | |
| 11 | g.66241607T>G | CA475312883 | PACS1 | c.2610T>G (p.Ser870=) c.-7T>G (n.-7T>G) c.160T>G c.1218T>G (p.Ser406=) c.2289T>G (p.Ser763=) c.2280T>G (p.Ser760=) c.2271T>G (p.Ser757=) | |
| 11 | g.66241608G>A | CA381383115 | PACS1 | c.2611G>A (p.Gly871Ser) c.-6G>A (n.-6G>A) c.161G>A c.1219G>A (p.Gly407Ser) c.2290G>A (p.Gly764Ser) c.2281G>A (p.Gly761Ser) c.2272G>A (p.Gly758Ser) | gnomAD v4 |
| 11 | g.66241608G>C | CA381383116 | PACS1 | c.2611G>C (p.Gly871Arg) c.-6G>C (n.-6G>C) c.161G>C c.1219G>C (p.Gly407Arg) c.2290G>C (p.Gly764Arg) c.2281G>C (p.Gly761Arg) c.2272G>C (p.Gly758Arg) | |
| 11 | g.66241608G>T | CA381383114 | PACS1 | c.2611G>T (p.Gly871Cys) c.-6G>T (n.-6G>T) c.161G>T c.1219G>T (p.Gly407Cys) c.2290G>T (p.Gly764Cys) c.2281G>T (p.Gly761Cys) c.2272G>T (p.Gly758Cys) | |
| 11 | g.66241609G>A | CA381383118 | PACS1 | c.2612G>A (p.Gly871Asp) c.-5G>A (n.-5G>A) c.162G>A c.1220G>A (p.Gly407Asp) c.2291G>A (p.Gly764Asp) c.2282G>A (p.Gly761Asp) c.2273G>A (p.Gly758Asp) | |
| 11 | g.66241609G>C | CA381383121 | PACS1 | c.2612G>C (p.Gly871Ala) c.-5G>C (n.-5G>C) c.162G>C c.1220G>C (p.Gly407Ala) c.2291G>C (p.Gly764Ala) c.2282G>C (p.Gly761Ala) c.2273G>C (p.Gly758Ala) | |
| 11 | g.66241609G>T | CA381383122 | PACS1 | c.2612G>T (p.Gly871Val) c.-5G>T (n.-5G>T) c.162G>T c.1220G>T (p.Gly407Val) c.2291G>T (p.Gly764Val) c.2282G>T (p.Gly761Val) c.2273G>T (p.Gly758Val) | |
| 11 | g.66241610C>A | CA475312911 | PACS1 | c.2613C>A (p.Gly871=) c.-4C>A (n.-4C>A) c.163C>A c.1221C>A (p.Gly407=) c.2292C>A (p.Gly764=) c.2283C>A (p.Gly761=) c.2274C>A (p.Gly758=) | |
| 11 | g.66241610C= | CA1979644058 | PACS1 | c.2613C= (p.Gly871=) c.-4C= (n.-4C=) c.163C= c.1221C= (p.Gly407=) c.2292C= (p.Gly764=) c.2283C= (p.Gly761=) c.2274C= (p.Gly758=) | |
| 11 | g.66241610C>G | CA475312910 | PACS1 | c.2613C>G (p.Gly871=) c.-4C>G (n.-4C>G) c.163C>G c.1221C>G (p.Gly407=) c.2292C>G (p.Gly764=) c.2283C>G (p.Gly761=) c.2274C>G (p.Gly758=) | |
| 11 | g.66241610C>T | CA475312908 | PACS1 | c.2613C>T (p.Gly871=) c.-4C>T (n.-4C>T) c.163C>T c.1221C>T (p.Gly407=) c.2292C>T (p.Gly764=) c.2283C>T (p.Gly761=) c.2274C>T (p.Gly758=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66241611A>C | CA381383126 | PACS1 | c.2614A>C (p.Thr872Pro) c.-3A>C (n.-3A>C) c.164A>C c.1222A>C (p.Thr408Pro) c.2293A>C (p.Thr765Pro) c.2284A>C (p.Thr762Pro) c.2275A>C (p.Thr759Pro) | |
| 11 | g.66241611A>G | CA381383127 | PACS1 | c.2614A>G (p.Thr872Ala) c.-3A>G (n.-3A>G) c.164A>G c.1222A>G (p.Thr408Ala) c.2293A>G (p.Thr765Ala) c.2284A>G (p.Thr762Ala) c.2275A>G (p.Thr759Ala) | |
| 11 | g.66241611A>T | CA381383128 | PACS1 | c.2614A>T (p.Thr872Ser) c.-3A>T (n.-3A>T) c.164A>T c.1222A>T (p.Thr408Ser) c.2293A>T (p.Thr765Ser) c.2284A>T (p.Thr762Ser) c.2275A>T (p.Thr759Ser) | |
| 11 | g.66241612C>A | CA381383130 | PACS1 | c.2615C>A (p.Thr872Asn) c.-2C>A (n.-2C>A) c.165C>A c.1223C>A (p.Thr408Asn) c.2294C>A (p.Thr765Asn) c.2285C>A (p.Thr762Asn) c.2276C>A (p.Thr759Asn) | |
| 11 | g.66241612C>G | CA381383134 | PACS1 | c.2615C>G (p.Thr872Ser) c.-2C>G (n.-2C>G) c.165C>G c.1223C>G (p.Thr408Ser) c.2294C>G (p.Thr765Ser) c.2285C>G (p.Thr762Ser) c.2276C>G (p.Thr759Ser) | |
| 11 | g.66241612C>T | CA381383137 | PACS1 | c.2615C>T (p.Thr872Ile) c.-2C>T (n.-2C>T) c.165C>T c.1223C>T (p.Thr408Ile) c.2294C>T (p.Thr765Ile) c.2285C>T (p.Thr762Ile) c.2276C>T (p.Thr759Ile) | |
| 11 | g.66241613C>A | CA475312921 | PACS1 | c.2616C>A (p.Thr872=) c.-1C>A (n.-1C>A) c.166C>A c.1224C>A (p.Thr408=) c.2295C>A (p.Thr765=) c.2286C>A (p.Thr762=) c.2277C>A (p.Thr759=) | |
| 11 | g.66241613C= | CA1979644059 | PACS1 | c.2616C= (p.Thr872=) c.-1C= (n.-1C=) c.166C= c.1224C= (p.Thr408=) c.2295C= (p.Thr765=) c.2286C= (p.Thr762=) c.2277C= (p.Thr759=) | |
| 11 | g.66241613C>G | CA475312927 | PACS1 | c.2616C>G (p.Thr872=) c.-1C>G (n.-1C>G) c.166C>G c.1224C>G (p.Thr408=) c.2295C>G (p.Thr765=) c.2286C>G (p.Thr762=) c.2277C>G (p.Thr759=) | |
| 11 | g.66241613C>T | CA6116910 | PACS1 | c.2616C>T (p.Thr872=) c.-1C>T (n.-1C>T) c.166C>T c.1224C>T (p.Thr408=) c.2295C>T (p.Thr765=) c.2286C>T (p.Thr762=) c.2277C>T (p.Thr759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66241614A>C | CA381383144 | PACS1 | c.2617A>C (p.Met873Leu) c.1A>C (p.Met1Leu) c.167A>C c.1225A>C (p.Met409Leu) c.2296A>C (p.Met766Leu) c.2287A>C (p.Met763Leu) c.2278A>C (p.Met760Leu) | |
| 11 | g.66241614A>G | CA381383146 | PACS1 | c.2617A>G (p.Met873Val) c.1A>G (p.Met1Val) c.167A>G c.1225A>G (p.Met409Val) c.2296A>G (p.Met766Val) c.2287A>G (p.Met763Val) c.2278A>G (p.Met760Val) | gnomAD v4 |
| 11 | g.66241614A>T | CA381383151 | PACS1 | c.2617A>T (p.Met873Leu) c.1A>T (p.Met1Leu) c.167A>T c.1225A>T (p.Met409Leu) c.2296A>T (p.Met766Leu) c.2287A>T (p.Met763Leu) c.2278A>T (p.Met760Leu) | |
| 11 | g.66241615T>A | CA381383165 | PACS1 | c.2618T>A (p.Met873Lys) c.2T>A (p.Met1Lys) c.168T>A c.1226T>A (p.Met409Lys) c.2297T>A (p.Met766Lys) c.2288T>A (p.Met763Lys) c.2279T>A (p.Met760Lys) | |
| 11 | g.66241615T>C | CA381383159 | PACS1 | c.2618T>C (p.Met873Thr) c.2T>C (p.Met1Thr) c.168T>C c.1226T>C (p.Met409Thr) c.2297T>C (p.Met766Thr) c.2288T>C (p.Met763Thr) c.2279T>C (p.Met760Thr) | |
| 11 | g.66241615T>G | CA381383155 | PACS1 | c.2618T>G (p.Met873Arg) c.2T>G (p.Met1Arg) c.168T>G c.1226T>G (p.Met409Arg) c.2297T>G (p.Met766Arg) c.2288T>G (p.Met763Arg) c.2279T>G (p.Met760Arg) | |
| 11 | g.66241616G>A | CA381383170 | PACS1 | c.2619G>A (p.Met873Ile) c.3G>A (p.Met1Ile) c.169G>A c.1227G>A (p.Met409Ile) c.2298G>A (p.Met766Ile) c.2289G>A (p.Met763Ile) c.2280G>A (p.Met760Ile) | |
| 11 | g.66241616G>C | CA381383175 | PACS1 | c.2619G>C (p.Met873Ile) c.3G>C (p.Met1Ile) c.169G>C c.1227G>C (p.Met409Ile) c.2298G>C (p.Met766Ile) c.2289G>C (p.Met763Ile) c.2280G>C (p.Met760Ile) | |
| 11 | g.66241616G>T | CA381383179 | PACS1 | c.2619G>T (p.Met873Ile) c.3G>T (p.Met1Ile) c.169G>T c.1227G>T (p.Met409Ile) c.2298G>T (p.Met766Ile) c.2289G>T (p.Met763Ile) c.2280G>T (p.Met760Ile) | |
| 11 | g.66241617G>A | CA381383184 | PACS1 | c.2620G>A (p.Ala874Thr) c.4G>A (p.Ala2Thr) c.170G>A c.1228G>A (p.Ala410Thr) c.2299G>A (p.Ala767Thr) c.2290G>A (p.Ala764Thr) c.2281G>A (p.Ala761Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66241617G>C | CA381383189 | PACS1 | c.2620G>C (p.Ala874Pro) c.4G>C (p.Ala2Pro) c.170G>C c.1228G>C (p.Ala410Pro) c.2299G>C (p.Ala767Pro) c.2290G>C (p.Ala764Pro) c.2281G>C (p.Ala761Pro) | |
| 11 | g.66241617G= | CA1979644060 | PACS1 | c.2620G= (p.Ala874=) c.4G= (p.Ala2=) c.170G= c.1228G= (p.Ala410=) c.2299G= (p.Ala767=) c.2290G= (p.Ala764=) c.2281G= (p.Ala761=) | |
| 11 | g.66241617G>T | CA381383195 | PACS1 | c.2620G>T (p.Ala874Ser) c.4G>T (p.Ala2Ser) c.170G>T c.1228G>T (p.Ala410Ser) c.2299G>T (p.Ala767Ser) c.2290G>T (p.Ala764Ser) c.2281G>T (p.Ala761Ser) | |
| 11 | g.66241618C>A | CA381383200 | PACS1 | c.2621C>A (p.Ala874Asp) c.5C>A (p.Ala2Asp) c.171C>A c.1229C>A (p.Ala410Asp) c.2300C>A (p.Ala767Asp) c.2291C>A (p.Ala764Asp) c.2282C>A (p.Ala761Asp) | |
| 11 | g.66241618C>G | CA381383201 | PACS1 | c.2621C>G (p.Ala874Gly) c.5C>G (p.Ala2Gly) c.171C>G c.1229C>G (p.Ala410Gly) c.2300C>G (p.Ala767Gly) c.2291C>G (p.Ala764Gly) c.2282C>G (p.Ala761Gly) | |
| 11 | g.66241618C>T | CA381383202 | PACS1 | c.2621C>T (p.Ala874Val) c.5C>T (p.Ala2Val) c.171C>T c.1229C>T (p.Ala410Val) c.2300C>T (p.Ala767Val) c.2291C>T (p.Ala764Val) c.2282C>T (p.Ala761Val) | |
| 11 | g.66241619C>A | CA475312965 | PACS1 | c.2622C>A (p.Ala874=) c.6C>A (p.Ala2=) c.172C>A c.1230C>A (p.Ala410=) c.2301C>A (p.Ala767=) c.2292C>A (p.Ala764=) c.2283C>A (p.Ala761=) | |
| 11 | g.66241619C>G | CA475312967 | PACS1 | c.2622C>G (p.Ala874=) c.6C>G (p.Ala2=) c.172C>G c.1230C>G (p.Ala410=) c.2301C>G (p.Ala767=) c.2292C>G (p.Ala764=) c.2283C>G (p.Ala761=) | |
| 11 | g.66241619C>T | CA475312968 | PACS1 | c.2622C>T (p.Ala874=) c.6C>T (p.Ala2=) c.172C>T c.1230C>T (p.Ala410=) c.2301C>T (p.Ala767=) c.2292C>T (p.Ala764=) c.2283C>T (p.Ala761=) | |
| 11 | g.66241620A= | CA1979644061 | PACS1 | c.2623A= (p.Met875=) c.7A= (p.Met3=) c.173A= c.1231A= (p.Met411=) c.2302A= (p.Met768=) c.2293A= (p.Met765=) c.2284A= (p.Met762=) | |
| 11 | g.66241620A>C | CA381383204 | PACS1 | c.2623A>C (p.Met875Leu) c.7A>C (p.Met3Leu) c.173A>C c.1231A>C (p.Met411Leu) c.2302A>C (p.Met768Leu) c.2293A>C (p.Met765Leu) c.2284A>C (p.Met762Leu) | |
| 11 | g.66241620A>G | CA381383208 | PACS1 | c.2623A>G (p.Met875Val) c.7A>G (p.Met3Val) c.173A>G c.1231A>G (p.Met411Val) c.2302A>G (p.Met768Val) c.2293A>G (p.Met765Val) c.2284A>G (p.Met762Val) | dbSNP |
| 11 | g.66241620A>T | CA381383213 | PACS1 | c.2623A>T (p.Met875Leu) c.7A>T (p.Met3Leu) c.173A>T c.1231A>T (p.Met411Leu) c.2302A>T (p.Met768Leu) c.2293A>T (p.Met765Leu) c.2284A>T (p.Met762Leu) | |
| 11 | g.66241621T>A | CA381383216 | PACS1 | c.2624T>A (p.Met875Lys) c.8T>A (p.Met3Lys) c.174T>A c.1232T>A (p.Met411Lys) c.2303T>A (p.Met768Lys) c.2294T>A (p.Met765Lys) c.2285T>A (p.Met762Lys) | |
| 11 | g.66241621T>C | CA381383221 | PACS1 | c.2624T>C (p.Met875Thr) c.8T>C (p.Met3Thr) c.174T>C c.1232T>C (p.Met411Thr) c.2303T>C (p.Met768Thr) c.2294T>C (p.Met765Thr) c.2285T>C (p.Met762Thr) | |
| 11 | g.66241621T>G | CA381383222 | PACS1 | c.2624T>G (p.Met875Arg) c.8T>G (p.Met3Arg) c.174T>G c.1232T>G (p.Met411Arg) c.2303T>G (p.Met768Arg) c.2294T>G (p.Met765Arg) c.2285T>G (p.Met762Arg) | |
| 11 | g.66241622G>A | CA381383224 | PACS1 | c.2625G>A (p.Met875Ile) c.9G>A (p.Met3Ile) c.175G>A c.1233G>A (p.Met411Ile) c.2304G>A (p.Met768Ile) c.2295G>A (p.Met765Ile) c.2286G>A (p.Met762Ile) | |
| 11 | g.66241622G>C | CA381383225 | PACS1 | c.2625G>C (p.Met875Ile) c.9G>C (p.Met3Ile) c.175G>C c.1233G>C (p.Met411Ile) c.2304G>C (p.Met768Ile) c.2295G>C (p.Met765Ile) c.2286G>C (p.Met762Ile) | |
| 11 | g.66241622G>T | CA381383223 | PACS1 | c.2625G>T (p.Met875Ile) c.9G>T (p.Met3Ile) c.175G>T c.1233G>T (p.Met411Ile) c.2304G>T (p.Met768Ile) c.2295G>T (p.Met765Ile) c.2286G>T (p.Met762Ile) | gnomAD v4 |
| 11 | g.66241623A>C | CA381383228 | PACS1 | c.2626A>C (p.Thr876Pro) c.10A>C (p.Thr4Pro) c.176A>C c.1234A>C (p.Thr412Pro) c.2305A>C (p.Thr769Pro) c.2296A>C (p.Thr766Pro) c.2287A>C (p.Thr763Pro) | |
| 11 | g.66241623A>G | CA381383237 | PACS1 | c.2626A>G (p.Thr876Ala) c.10A>G (p.Thr4Ala) c.176A>G c.1234A>G (p.Thr412Ala) c.2305A>G (p.Thr769Ala) c.2296A>G (p.Thr766Ala) c.2287A>G (p.Thr763Ala) | |
| 11 | g.66241623A>T | CA381383250 | PACS1 | c.2626A>T (p.Thr876Ser) c.10A>T (p.Thr4Ser) c.176A>T c.1234A>T (p.Thr412Ser) c.2305A>T (p.Thr769Ser) c.2296A>T (p.Thr766Ser) c.2287A>T (p.Thr763Ser) | |
| 11 | g.66241624C>A | CA381383253 | PACS1 | c.2627C>A (p.Thr876Asn) c.11C>A (p.Thr4Asn) c.177C>A c.1235C>A (p.Thr412Asn) c.2306C>A (p.Thr769Asn) c.2297C>A (p.Thr766Asn) c.2288C>A (p.Thr763Asn) | |
| 11 | g.66241624C>G | CA381383257 | PACS1 | c.2627C>G (p.Thr876Ser) c.11C>G (p.Thr4Ser) c.177C>G c.1235C>G (p.Thr412Ser) c.2306C>G (p.Thr769Ser) c.2297C>G (p.Thr766Ser) c.2288C>G (p.Thr763Ser) | |
| 11 | g.66241624C>T | CA381383262 | PACS1 | c.2627C>T (p.Thr876Ile) c.11C>T (p.Thr4Ile) c.177C>T c.1235C>T (p.Thr412Ile) c.2306C>T (p.Thr769Ile) c.2297C>T (p.Thr766Ile) c.2288C>T (p.Thr763Ile) | |
| 11 | g.66241625T>A | CA475313006 | PACS1 | c.2628T>A (p.Thr876=) c.12T>A (p.Thr4=) c.178T>A c.1236T>A (p.Thr412=) c.2307T>A (p.Thr769=) c.2298T>A (p.Thr766=) c.2289T>A (p.Thr763=) | |
| 11 | g.66241625T>C | CA6116911 | PACS1 | c.2628T>C (p.Thr876=) c.12T>C (p.Thr4=) c.178T>C c.1236T>C (p.Thr412=) c.2307T>C (p.Thr769=) c.2298T>C (p.Thr766=) c.2289T>C (p.Thr763=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66241625T>G | CA475313008 | PACS1 | c.2628T>G (p.Thr876=) c.12T>G (p.Thr4=) c.178T>G c.1236T>G (p.Thr412=) c.2307T>G (p.Thr769=) c.2298T>G (p.Thr766=) c.2289T>G (p.Thr763=) | |
| 11 | g.66241625T= | CA1979644062 | PACS1 | c.2628T= (p.Thr876=) c.12T= (p.Thr4=) c.178T= c.1236T= (p.Thr412=) c.2307T= (p.Thr769=) c.2298T= (p.Thr766=) c.2289T= (p.Thr763=) | |
| 11 | g.66241627_66241628del | CA2792472829 | PACS1 | c.2630_2631del (p.Val877GlyfsTer26) c.14_15del (p.Val5GlyfsTer26) c.180_181del c.1238_1239del (p.Val413GlyfsTer26) c.2309_2310del (p.Val770GlyfsTer26) c.2300_2301del (p.Val767GlyfsTer26) c.2291_2292del (p.Val764GlyfsTer26) | |
| 11 | g.66241626G>A | CA381383272 | PACS1 | c.2629G>A (p.Val877Met) c.13G>A (p.Val5Met) c.179G>A c.1237G>A (p.Val413Met) c.2308G>A (p.Val770Met) c.2299G>A (p.Val767Met) c.2290G>A (p.Val764Met) | |
| 11 | g.66241626G>C | CA381383277 | PACS1 | c.2629G>C (p.Val877Leu) c.13G>C (p.Val5Leu) c.179G>C c.1237G>C (p.Val413Leu) c.2308G>C (p.Val770Leu) c.2299G>C (p.Val767Leu) c.2290G>C (p.Val764Leu) | |
| 11 | g.66241626G>T | CA381383281 | PACS1 | c.2629G>T (p.Val877Leu) c.13G>T (p.Val5Leu) c.179G>T c.1237G>T (p.Val413Leu) c.2308G>T (p.Val770Leu) c.2299G>T (p.Val767Leu) c.2290G>T (p.Val764Leu) | |
| 11 | g.66241627T>A | CA381383285 | PACS1 | c.2630T>A (p.Val877Glu) c.14T>A (p.Val5Glu) c.180T>A c.1238T>A (p.Val413Glu) c.2309T>A (p.Val770Glu) c.2300T>A (p.Val767Glu) c.2291T>A (p.Val764Glu) | |
| 11 | g.66241627T>C | CA381383289 | PACS1 | c.2630T>C (p.Val877Ala) c.14T>C (p.Val5Ala) c.180T>C c.1238T>C (p.Val413Ala) c.2309T>C (p.Val770Ala) c.2300T>C (p.Val767Ala) c.2291T>C (p.Val764Ala) | |
| 11 | g.66241627T>G | CA381383291 | PACS1 | c.2630T>G (p.Val877Gly) c.14T>G (p.Val5Gly) c.180T>G c.1238T>G (p.Val413Gly) c.2309T>G (p.Val770Gly) c.2300T>G (p.Val767Gly) c.2291T>G (p.Val764Gly) | |
| 11 | g.66241628G>A | CA475313035 | PACS1 | c.2631G>A (p.Val877=) c.15G>A (p.Val5=) c.181G>A c.1239G>A (p.Val413=) c.2310G>A (p.Val770=) c.2301G>A (p.Val767=) c.2292G>A (p.Val764=) | |
| 11 | g.66241628G>C | CA224039565 | PACS1 | c.2631G>C (p.Val877=) c.15G>C (p.Val5=) c.181G>C c.1239G>C (p.Val413=) c.2310G>C (p.Val770=) c.2301G>C (p.Val767=) c.2292G>C (p.Val764=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66241628G= | CA1979644063 | PACS1 | c.2631G= (p.Val877=) c.15G= (p.Val5=) c.181G= c.1239G= (p.Val413=) c.2310G= (p.Val770=) c.2301G= (p.Val767=) c.2292G= (p.Val764=) | |
| 11 | g.66241628G>T | CA475313049 | PACS1 | c.2631G>T (p.Val877=) c.15G>T (p.Val5=) c.181G>T c.1239G>T (p.Val413=) c.2310G>T (p.Val770=) c.2301G>T (p.Val767=) c.2292G>T (p.Val764=) | |
| 11 | g.66241629G>A | CA224039566 | PACS1 | c.2632G>A (p.Val878Ile) c.16G>A (p.Val6Ile) c.182G>A c.1240G>A (p.Val414Ile) c.2311G>A (p.Val771Ile) c.2302G>A (p.Val768Ile) c.2293G>A (p.Val765Ile) | dbSNP |
| 11 | g.66241629G>C | CA381383295 | PACS1 | c.2632G>C (p.Val878Leu) c.16G>C (p.Val6Leu) c.182G>C c.1240G>C (p.Val414Leu) c.2311G>C (p.Val771Leu) c.2302G>C (p.Val768Leu) c.2293G>C (p.Val765Leu) | |
| 11 | g.66241629G= | CA1979644064 | PACS1 | c.2632G= (p.Val878=) c.16G= (p.Val6=) c.182G= c.1240G= (p.Val414=) c.2311G= (p.Val771=) c.2302G= (p.Val768=) c.2293G= (p.Val765=) | |
| 11 | g.66241629G>T | CA381383298 | PACS1 | c.2632G>T (p.Val878Phe) c.16G>T (p.Val6Phe) c.182G>T c.1240G>T (p.Val414Phe) c.2311G>T (p.Val771Phe) c.2302G>T (p.Val768Phe) c.2293G>T (p.Val765Phe) | |
| 11 | g.66241630T>A | CA381383304 | PACS1 | c.2633T>A (p.Val878Asp) c.17T>A (p.Val6Asp) c.183T>A c.1241T>A (p.Val414Asp) c.2312T>A (p.Val771Asp) c.2303T>A (p.Val768Asp) c.2294T>A (p.Val765Asp) | |
| 11 | g.66241630T>C | CA381383307 | PACS1 | c.2633T>C (p.Val878Ala) c.17T>C (p.Val6Ala) c.183T>C c.1241T>C (p.Val414Ala) c.2312T>C (p.Val771Ala) c.2303T>C (p.Val768Ala) c.2294T>C (p.Val765Ala) | |
| 11 | g.66241630T>G | CA381383310 | PACS1 | c.2633T>G (p.Val878Gly) c.17T>G (p.Val6Gly) c.183T>G c.1241T>G (p.Val414Gly) c.2312T>G (p.Val771Gly) c.2303T>G (p.Val768Gly) c.2294T>G (p.Val765Gly) | |
| 11 | g.66241631C>A | CA475313072 | PACS1 | c.2634C>A (p.Val878=) c.18C>A (p.Val6=) c.184C>A c.1242C>A (p.Val414=) c.2313C>A (p.Val771=) c.2304C>A (p.Val768=) c.2295C>A (p.Val765=) | gnomAD v4 |
| 11 | g.66241631C>G | CA475313083 | PACS1 | c.2634C>G (p.Val878=) c.18C>G (p.Val6=) c.184C>G c.1242C>G (p.Val414=) c.2313C>G (p.Val771=) c.2304C>G (p.Val768=) c.2295C>G (p.Val765=) | |
| 11 | g.66241631C>T | CA475313086 | PACS1 | c.2634C>T (p.Val878=) c.18C>T (p.Val6=) c.184C>T c.1242C>T (p.Val414=) c.2313C>T (p.Val771=) c.2304C>T (p.Val768=) c.2295C>T (p.Val765=) | |
| 11 | g.66241632A= | CA1979644065 | PACS1 | c.2635A= (p.Thr879=) c.19A= (p.Thr7=) c.185A= c.1243A= (p.Thr415=) c.2314A= (p.Thr772=) c.2305A= (p.Thr769=) c.2296A= (p.Thr766=) | |
| 11 | g.66241632A>C | CA381383312 | PACS1 | c.2635A>C (p.Thr879Pro) c.19A>C (p.Thr7Pro) c.185A>C c.1243A>C (p.Thr415Pro) c.2314A>C (p.Thr772Pro) c.2305A>C (p.Thr769Pro) c.2296A>C (p.Thr766Pro) | |
| 11 | g.66241632A>G | CA6116912 | PACS1 | c.2635A>G (p.Thr879Ala) c.19A>G (p.Thr7Ala) c.185A>G c.1243A>G (p.Thr415Ala) c.2314A>G (p.Thr772Ala) c.2305A>G (p.Thr769Ala) c.2296A>G (p.Thr766Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66241632A>T | CA381383317 | PACS1 | c.2635A>T (p.Thr879Ser) c.19A>T (p.Thr7Ser) c.185A>T c.1243A>T (p.Thr415Ser) c.2314A>T (p.Thr772Ser) c.2305A>T (p.Thr769Ser) c.2296A>T (p.Thr766Ser) | |
| 11 | g.66241633C>A | CA381383321 | PACS1 | c.2636C>A (p.Thr879Asn) c.20C>A (p.Thr7Asn) c.186C>A c.1244C>A (p.Thr415Asn) c.2315C>A (p.Thr772Asn) c.2306C>A (p.Thr769Asn) c.2297C>A (p.Thr766Asn) | |
| 11 | g.66241633C>G | CA381383322 | PACS1 | c.2636C>G (p.Thr879Ser) c.20C>G (p.Thr7Ser) c.186C>G c.1244C>G (p.Thr415Ser) c.2315C>G (p.Thr772Ser) c.2306C>G (p.Thr769Ser) c.2297C>G (p.Thr766Ser) | |
| 11 | g.66241633C>T | CA381383323 | PACS1 | c.2636C>T (p.Thr879Ile) c.20C>T (p.Thr7Ile) c.186C>T c.1244C>T (p.Thr415Ile) c.2315C>T (p.Thr772Ile) c.2306C>T (p.Thr769Ile) c.2297C>T (p.Thr766Ile) | |
| 11 | g.66241634C>A | CA475313106 | PACS1 | c.2637C>A (p.Thr879=) c.21C>A (p.Thr7=) c.187C>A c.1245C>A (p.Thr415=) c.2316C>A (p.Thr772=) c.2307C>A (p.Thr769=) c.2298C>A (p.Thr766=) | |
| 11 | g.66241634C>G | CA475313107 | PACS1 | c.2637C>G (p.Thr879=) c.21C>G (p.Thr7=) c.187C>G c.1245C>G (p.Thr415=) c.2316C>G (p.Thr772=) c.2307C>G (p.Thr769=) c.2298C>G (p.Thr766=) | |
| 11 | g.66241634C>T | CA475313108 | PACS1 | c.2637C>T (p.Thr879=) c.21C>T (p.Thr7=) c.187C>T c.1245C>T (p.Thr415=) c.2316C>T (p.Thr772=) c.2307C>T (p.Thr769=) c.2298C>T (p.Thr766=) | |
| 11 | g.66241635A>C | CA381383324 | PACS1 | c.2638A>C (p.Lys880Gln) c.22A>C (p.Lys8Gln) c.188A>C c.1246A>C (p.Lys416Gln) c.2317A>C (p.Lys773Gln) c.2308A>C (p.Lys770Gln) c.2299A>C (p.Lys767Gln) | |
| 11 | g.66241635A>G | CA381383325 | PACS1 | c.2638A>G (p.Lys880Glu) c.22A>G (p.Lys8Glu) c.188A>G c.1246A>G (p.Lys416Glu) c.2317A>G (p.Lys773Glu) c.2308A>G (p.Lys770Glu) c.2299A>G (p.Lys767Glu) | |
| 11 | g.66241635A>T | CA381383328 | PACS1 | c.2638A>T (p.Lys880Ter) c.22A>T (p.Lys8Ter) c.188A>T c.1246A>T (p.Lys416Ter) c.2317A>T (p.Lys773Ter) c.2308A>T (p.Lys770Ter) c.2299A>T (p.Lys767Ter) | |
| 11 | g.66241636A>C | CA381383349 | PACS1 | c.2639A>C (p.Lys880Thr) c.23A>C (p.Lys8Thr) c.189A>C c.1247A>C (p.Lys416Thr) c.2318A>C (p.Lys773Thr) c.2309A>C (p.Lys770Thr) c.2300A>C (p.Lys767Thr) | |
| 11 | g.66241636A>G | CA381383345 | PACS1 | c.2639A>G (p.Lys880Arg) c.23A>G (p.Lys8Arg) c.189A>G c.1247A>G (p.Lys416Arg) c.2318A>G (p.Lys773Arg) c.2309A>G (p.Lys770Arg) c.2300A>G (p.Lys767Arg) | |
| 11 | g.66241636A>T | CA381383332 | PACS1 | c.2639A>T (p.Lys880Ile) c.23A>T (p.Lys8Ile) c.189A>T c.1247A>T (p.Lys416Ile) c.2318A>T (p.Lys773Ile) c.2309A>T (p.Lys770Ile) c.2300A>T (p.Lys767Ile) | |
| 11 | g.66241637A>C | CA381383354 | PACS1 | c.2640A>C (p.Lys880Asn) c.24A>C (p.Lys8Asn) c.190A>C c.1248A>C (p.Lys416Asn) c.2319A>C (p.Lys773Asn) c.2310A>C (p.Lys770Asn) c.2301A>C (p.Lys767Asn) | |
| 11 | g.66241637A>G | CA475313125 | PACS1 | c.2640A>G (p.Lys880=) c.24A>G (p.Lys8=) c.190A>G c.1248A>G (p.Lys416=) c.2319A>G (p.Lys773=) c.2310A>G (p.Lys770=) c.2301A>G (p.Lys767=) | |
| 11 | g.66241637A>T | CA381383356 | PACS1 | c.2640A>T (p.Lys880Asn) c.24A>T (p.Lys8Asn) c.190A>T c.1248A>T (p.Lys416Asn) c.2319A>T (p.Lys773Asn) c.2310A>T (p.Lys770Asn) c.2301A>T (p.Lys767Asn) | |
| 11 | g.66241638G>A | CA381383362 | PACS1 | c.2641G>A (p.Glu881Lys) c.25G>A (p.Glu9Lys) c.191G>A c.1249G>A (p.Glu417Lys) c.2320G>A (p.Glu774Lys) c.2311G>A (p.Glu771Lys) c.2302G>A (p.Glu768Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66241638G>C | CA381383365 | PACS1 | c.2641G>C (p.Glu881Gln) c.25G>C (p.Glu9Gln) c.191G>C c.1249G>C (p.Glu417Gln) c.2320G>C (p.Glu774Gln) c.2311G>C (p.Glu771Gln) c.2302G>C (p.Glu768Gln) | |
| 11 | g.66241638G= | CA1979644066 | PACS1 | c.2641G= (p.Glu881=) c.25G= (p.Glu9=) c.191G= c.1249G= (p.Glu417=) c.2320G= (p.Glu774=) c.2311G= (p.Glu771=) c.2302G= (p.Glu768=) | |
| 11 | g.66241638G>T | CA381383364 | PACS1 | c.2641G>T (p.Glu881Ter) c.25G>T (p.Glu9Ter) c.191G>T c.1249G>T (p.Glu417Ter) c.2320G>T (p.Glu774Ter) c.2311G>T (p.Glu771Ter) c.2302G>T (p.Glu768Ter) | |
| 11 | g.66241639A>C | CA381383367 | PACS1 | c.2642A>C (p.Glu881Ala) c.26A>C (p.Glu9Ala) c.192A>C c.1250A>C (p.Glu417Ala) c.2321A>C (p.Glu774Ala) c.2312A>C (p.Glu771Ala) c.2303A>C (p.Glu768Ala) | |
| 11 | g.66241639A>G | CA381383374 | PACS1 | c.2642A>G (p.Glu881Gly) c.26A>G (p.Glu9Gly) c.192A>G c.1250A>G (p.Glu417Gly) c.2321A>G (p.Glu774Gly) c.2312A>G (p.Glu771Gly) c.2303A>G (p.Glu768Gly) | |
| 11 | g.66241639A>T | CA381383370 | PACS1 | c.2642A>T (p.Glu881Val) c.26A>T (p.Glu9Val) c.192A>T c.1250A>T (p.Glu417Val) c.2321A>T (p.Glu774Val) c.2312A>T (p.Glu771Val) c.2303A>T (p.Glu768Val) | |
| 11 | g.66241640A>C | CA381383379 | PACS1 | c.2643A>C (p.Glu881Asp) c.27A>C (p.Glu9Asp) c.193A>C c.1251A>C (p.Glu417Asp) c.2322A>C (p.Glu774Asp) c.2313A>C (p.Glu771Asp) c.2304A>C (p.Glu768Asp) | |
| 11 | g.66241640A>G | CA475313143 | PACS1 | c.2643A>G (p.Glu881=) c.27A>G (p.Glu9=) c.193A>G c.1251A>G (p.Glu417=) c.2322A>G (p.Glu774=) c.2313A>G (p.Glu771=) c.2304A>G (p.Glu768=) | |
| 11 | g.66241640A>T | CA381383382 | PACS1 | c.2643A>T (p.Glu881Asp) c.27A>T (p.Glu9Asp) c.193A>T c.1251A>T (p.Glu417Asp) c.2322A>T (p.Glu774Asp) c.2313A>T (p.Glu771Asp) c.2304A>T (p.Glu768Asp) | |
| 11 | g.66241641A>C | CA381383383 | PACS1 | c.2644A>C (p.Lys882Gln) c.28A>C (p.Lys10Gln) c.194A>C c.1252A>C (p.Lys418Gln) c.2323A>C (p.Lys775Gln) c.2314A>C (p.Lys772Gln) c.2305A>C (p.Lys769Gln) | |
| 11 | g.66241641A>G | CA381383384 | PACS1 | c.2644A>G (p.Lys882Glu) c.28A>G (p.Lys10Glu) c.194A>G c.1252A>G (p.Lys418Glu) c.2323A>G (p.Lys775Glu) c.2314A>G (p.Lys772Glu) c.2305A>G (p.Lys769Glu) | |
| 11 | g.66241641A>T | CA381383385 | PACS1 | c.2644A>T (p.Lys882Ter) c.28A>T (p.Lys10Ter) c.194A>T c.1252A>T (p.Lys418Ter) c.2323A>T (p.Lys775Ter) c.2314A>T (p.Lys772Ter) c.2305A>T (p.Lys769Ter) | |
| 11 | g.66241642A>C | CA381383390 | PACS1 | c.2645A>C (p.Lys882Thr) c.29A>C (p.Lys10Thr) c.195A>C c.1253A>C (p.Lys418Thr) c.2324A>C (p.Lys775Thr) c.2315A>C (p.Lys772Thr) c.2306A>C (p.Lys769Thr) | |
| 11 | g.66241642A>G | CA381383395 | PACS1 | c.2645A>G (p.Lys882Arg) c.29A>G (p.Lys10Arg) c.195A>G c.1253A>G (p.Lys418Arg) c.2324A>G (p.Lys775Arg) c.2315A>G (p.Lys772Arg) c.2306A>G (p.Lys769Arg) | |
| 11 | g.66241642A>T | CA381383399 | PACS1 | c.2645A>T (p.Lys882Met) c.29A>T (p.Lys10Met) c.195A>T c.1253A>T (p.Lys418Met) c.2324A>T (p.Lys775Met) c.2315A>T (p.Lys772Met) c.2306A>T (p.Lys769Met) | |
| 11 | g.66241643G>A | CA475313152 | PACS1 | c.2646G>A (p.Lys882=) c.30G>A (p.Lys10=) c.196G>A c.1254G>A (p.Lys418=) c.2325G>A (p.Lys775=) c.2316G>A (p.Lys772=) c.2307G>A (p.Lys769=) | |
| 11 | g.66241643G>C | CA381383406 | PACS1 | c.2646G>C (p.Lys882Asn) c.30G>C (p.Lys10Asn) c.196G>C c.1254G>C (p.Lys418Asn) c.2325G>C (p.Lys775Asn) c.2316G>C (p.Lys772Asn) c.2307G>C (p.Lys769Asn) | COSMIC |
| 11 | g.66241643G>T | CA381383431 | PACS1 | c.2646G>T (p.Lys882Asn) c.30G>T (p.Lys10Asn) c.196G>T c.1254G>T (p.Lys418Asn) c.2325G>T (p.Lys775Asn) c.2316G>T (p.Lys772Asn) c.2307G>T (p.Lys769Asn) | |
| 11 | g.66241644A= | CA1979644067 | PACS1 | c.2647A= (p.Asn883=) c.31A= (p.Asn11=) c.197A= c.1255A= (p.Asn419=) c.2326A= (p.Asn776=) c.2317A= (p.Asn773=) c.2308A= (p.Asn770=) | |
| 11 | g.66241644A>C | CA381383446 | PACS1 | c.2647A>C (p.Asn883His) c.31A>C (p.Asn11His) c.197A>C c.1255A>C (p.Asn419His) c.2326A>C (p.Asn776His) c.2317A>C (p.Asn773His) c.2308A>C (p.Asn770His) | |
| 11 | g.66241644A>G | CA381383449 | PACS1 | c.2647A>G (p.Asn883Asp) c.31A>G (p.Asn11Asp) c.197A>G c.1255A>G (p.Asn419Asp) c.2326A>G (p.Asn776Asp) c.2317A>G (p.Asn773Asp) c.2308A>G (p.Asn770Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66241644A>T | CA381383450 | PACS1 | c.2647A>T (p.Asn883Tyr) c.31A>T (p.Asn11Tyr) c.197A>T c.1255A>T (p.Asn419Tyr) c.2326A>T (p.Asn776Tyr) c.2317A>T (p.Asn773Tyr) c.2308A>T (p.Asn770Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66241645A>C | CA381383451 | PACS1 | c.2648A>C (p.Asn883Thr) c.32A>C (p.Asn11Thr) c.198A>C c.1256A>C (p.Asn419Thr) c.2327A>C (p.Asn776Thr) c.2318A>C (p.Asn773Thr) c.2309A>C (p.Asn770Thr) | |
| 11 | g.66241645A>G | CA381383456 | PACS1 | c.2648A>G (p.Asn883Ser) c.32A>G (p.Asn11Ser) c.198A>G c.1256A>G (p.Asn419Ser) c.2327A>G (p.Asn776Ser) c.2318A>G (p.Asn773Ser) c.2309A>G (p.Asn770Ser) | ClinVar |
| 11 | g.66241645A>T | CA381383455 | PACS1 | c.2648A>T (p.Asn883Ile) c.32A>T (p.Asn11Ile) c.198A>T c.1256A>T (p.Asn419Ile) c.2327A>T (p.Asn776Ile) c.2318A>T (p.Asn773Ile) c.2309A>T (p.Asn770Ile) | |
| 11 | g.66241646C>A | CA381383461 | PACS1 | c.2649C>A (p.Asn883Lys) c.33C>A (p.Asn11Lys) c.199C>A c.1257C>A (p.Asn419Lys) c.2328C>A (p.Asn776Lys) c.2319C>A (p.Asn773Lys) c.2310C>A (p.Asn770Lys) | ClinVar |
| 11 | g.66241646C>G | CA381383464 | PACS1 | c.2649C>G (p.Asn883Lys) c.33C>G (p.Asn11Lys) c.199C>G c.1257C>G (p.Asn419Lys) c.2328C>G (p.Asn776Lys) c.2319C>G (p.Asn773Lys) c.2310C>G (p.Asn770Lys) | |
| 11 | g.66241646C>T | CA475313181 | PACS1 | c.2649C>T (p.Asn883=) c.33C>T (p.Asn11=) c.199C>T c.1257C>T (p.Asn419=) c.2328C>T (p.Asn776=) c.2319C>T (p.Asn773=) c.2310C>T (p.Asn770=) | |
| 11 | g.66241647A>C | CA381383468 | PACS1 | c.2650A>C (p.Lys884Gln) c.34A>C (p.Lys12Gln) c.200A>C c.1258A>C (p.Lys420Gln) c.2329A>C (p.Lys777Gln) c.2320A>C (p.Lys774Gln) c.2311A>C (p.Lys771Gln) | |
| 11 | g.66241647A>G | CA381383471 | PACS1 | c.2650A>G (p.Lys884Glu) c.34A>G (p.Lys12Glu) c.200A>G c.1258A>G (p.Lys420Glu) c.2329A>G (p.Lys777Glu) c.2320A>G (p.Lys774Glu) c.2311A>G (p.Lys771Glu) | |
| 11 | g.66241647A>T | CA381383472 | PACS1 | c.2650A>T (p.Lys884Ter) c.34A>T (p.Lys12Ter) c.200A>T c.1258A>T (p.Lys420Ter) c.2329A>T (p.Lys777Ter) c.2320A>T (p.Lys774Ter) c.2311A>T (p.Lys771Ter) | |
| 11 | g.66241648A>C | CA381383474 | PACS1 | c.2651A>C (p.Lys884Thr) c.35A>C (p.Lys12Thr) c.201A>C c.1259A>C (p.Lys420Thr) c.2330A>C (p.Lys777Thr) c.2321A>C (p.Lys774Thr) c.2312A>C (p.Lys771Thr) | |
| 11 | g.66241648A>G | CA381383483 | PACS1 | c.2651A>G (p.Lys884Arg) c.35A>G (p.Lys12Arg) c.201A>G c.1259A>G (p.Lys420Arg) c.2330A>G (p.Lys777Arg) c.2321A>G (p.Lys774Arg) c.2312A>G (p.Lys771Arg) | |
| 11 | g.66241648A>T | CA381383486 | PACS1 | c.2651A>T (p.Lys884Met) c.35A>T (p.Lys12Met) c.201A>T c.1259A>T (p.Lys420Met) c.2330A>T (p.Lys777Met) c.2321A>T (p.Lys774Met) c.2312A>T (p.Lys771Met) | |
| 11 | g.66241649G>A | CA475313210 | PACS1 | c.2652G>A (p.Lys884=) c.36G>A (p.Lys12=) c.202G>A c.1260G>A (p.Lys420=) c.2331G>A (p.Lys777=) c.2322G>A (p.Lys774=) c.2313G>A (p.Lys771=) | |
| 11 | g.66241649G>C | CA381383491 | PACS1 | c.2652G>C (p.Lys884Asn) c.36G>C (p.Lys12Asn) c.202G>C c.1260G>C (p.Lys420Asn) c.2331G>C (p.Lys777Asn) c.2322G>C (p.Lys774Asn) c.2313G>C (p.Lys771Asn) | |
| 11 | g.66241649G>T | CA381383494 | PACS1 | c.2652G>T (p.Lys884Asn) c.36G>T (p.Lys12Asn) c.202G>T c.1260G>T (p.Lys420Asn) c.2331G>T (p.Lys777Asn) c.2322G>T (p.Lys774Asn) c.2313G>T (p.Lys771Asn) | |
| 11 | g.66241650A>C | CA381383502 | PACS1 | c.2653A>C (p.Lys885Gln) c.37A>C (p.Lys13Gln) c.203A>C c.1261A>C (p.Lys421Gln) c.2332A>C (p.Lys778Gln) c.2323A>C (p.Lys775Gln) c.2314A>C (p.Lys772Gln) | |
| 11 | g.66241650A>G | CA381383499 | PACS1 | c.2653A>G (p.Lys885Glu) c.37A>G (p.Lys13Glu) c.203A>G c.1261A>G (p.Lys421Glu) c.2332A>G (p.Lys778Glu) c.2323A>G (p.Lys775Glu) c.2314A>G (p.Lys772Glu) | |
| 11 | g.66241650A>T | CA381383496 | PACS1 | c.2653A>T (p.Lys885Ter) c.37A>T (p.Lys13Ter) c.203A>T c.1261A>T (p.Lys421Ter) c.2332A>T (p.Lys778Ter) c.2323A>T (p.Lys775Ter) c.2314A>T (p.Lys772Ter) | |
| 11 | g.66241651A>C | CA381383506 | PACS1 | c.2654A>C (p.Lys885Thr) c.38A>C (p.Lys13Thr) c.204A>C c.1262A>C (p.Lys421Thr) c.2333A>C (p.Lys778Thr) c.2324A>C (p.Lys775Thr) c.2315A>C (p.Lys772Thr) | |
| 11 | g.66241651A>G | CA381383508 | PACS1 | c.2654A>G (p.Lys885Arg) c.38A>G (p.Lys13Arg) c.204A>G c.1262A>G (p.Lys421Arg) c.2333A>G (p.Lys778Arg) c.2324A>G (p.Lys775Arg) c.2315A>G (p.Lys772Arg) | |
| 11 | g.66241651A>T | CA381383512 | PACS1 | c.2654A>T (p.Lys885Ile) c.38A>T (p.Lys13Ile) c.204A>T c.1262A>T (p.Lys421Ile) c.2333A>T (p.Lys778Ile) c.2324A>T (p.Lys775Ile) c.2315A>T (p.Lys772Ile) | |
| 11 | g.66241652A>C | CA381383513 | PACS1 | c.2655A>C (p.Lys885Asn) c.39A>C (p.Lys13Asn) c.205A>C c.1263A>C (p.Lys421Asn) c.2334A>C (p.Lys778Asn) c.2325A>C (p.Lys775Asn) c.2316A>C (p.Lys772Asn) | |
| 11 | g.66241652A>G | CA475313218 | PACS1 | c.2655A>G (p.Lys885=) c.39A>G (p.Lys13=) c.205A>G c.1263A>G (p.Lys421=) c.2334A>G (p.Lys778=) c.2325A>G (p.Lys775=) c.2316A>G (p.Lys772=) | |
| 11 | g.66241652A>T | CA381383514 | PACS1 | c.2655A>T (p.Lys885Asn) c.39A>T (p.Lys13Asn) c.205A>T c.1263A>T (p.Lys421Asn) c.2334A>T (p.Lys778Asn) c.2325A>T (p.Lys775Asn) c.2316A>T (p.Lys772Asn) | |
| 11 | g.66241653G>A | CA381383515 | PACS1 | c.2656G>A (p.Val886Ile) c.40G>A (p.Val14Ile) c.206G>A c.1264G>A (p.Val422Ile) c.2335G>A (p.Val779Ile) c.2326G>A (p.Val776Ile) c.2317G>A (p.Val773Ile) | |
| 11 | g.66241653G>C | CA381383517 | PACS1 | c.2656G>C (p.Val886Leu) c.40G>C (p.Val14Leu) c.206G>C c.1264G>C (p.Val422Leu) c.2335G>C (p.Val779Leu) c.2326G>C (p.Val776Leu) c.2317G>C (p.Val773Leu) | |
| 11 | g.66241653G>T | CA381383519 | PACS1 | c.2656G>T (p.Val886Phe) c.40G>T (p.Val14Phe) c.206G>T c.1264G>T (p.Val422Phe) c.2335G>T (p.Val779Phe) c.2326G>T (p.Val776Phe) c.2317G>T (p.Val773Phe) | |
| 11 | g.66241654G>A | CA381383523 | PACS1 | c.2656+1G>A (n.2656+1G>A) c.40+1G>A (n.40+1G>A) c.206+1G>A c.1264+1G>A (n.1264+1G>A) c.2335+1G>A (n.2335+1G>A) c.2326+1G>A (n.2326+1G>A) c.2317+1G>A (n.2317+1G>A) | COSMIC |
| 11 | g.66241654G>C | CA16619378 | PACS1 | c.2656+1G>C (n.2656+1G>C) c.40+1G>C (n.40+1G>C) c.206+1G>C c.1264+1G>C (n.1264+1G>C) c.2335+1G>C (n.2335+1G>C) c.2326+1G>C (n.2326+1G>C) c.2317+1G>C (n.2317+1G>C) | ClinVar dbSNP |
| 11 | g.66241654G= | CA1979644068 | PACS1 | c.2656+1G= (n.2656+1G=) c.40+1G= (n.40+1G=) c.206+1G= c.1264+1G= (n.1264+1G=) c.2335+1G= (n.2335+1G=) c.2326+1G= (n.2326+1G=) c.2317+1G= (n.2317+1G=) | |
| 11 | g.66241654G>T | CA381383534 | PACS1 | c.2656+1G>T (n.2656+1G>T) c.40+1G>T (n.40+1G>T) c.206+1G>T c.1264+1G>T (n.1264+1G>T) c.2335+1G>T (n.2335+1G>T) c.2326+1G>T (n.2326+1G>T) c.2317+1G>T (n.2317+1G>T) | |
| 11 | g.66241655T>A | CA381383536 | PACS1 | c.2656+2T>A (n.2656+2T>A) c.40+2T>A (n.40+2T>A) c.206+2T>A c.1264+2T>A (n.1264+2T>A) c.2335+2T>A (n.2335+2T>A) c.2326+2T>A (n.2326+2T>A) c.2317+2T>A (n.2317+2T>A) | |
| 11 | g.66241655T>C | CA381383538 | PACS1 | c.2656+2T>C (n.2656+2T>C) c.40+2T>C (n.40+2T>C) c.206+2T>C c.1264+2T>C (n.1264+2T>C) c.2335+2T>C (n.2335+2T>C) c.2326+2T>C (n.2326+2T>C) c.2317+2T>C (n.2317+2T>C) | dbSNP |
| 11 | g.66241655T>G | CA381383539 | PACS1 | c.2656+2T>G (n.2656+2T>G) c.40+2T>G (n.40+2T>G) c.206+2T>G c.1264+2T>G (n.1264+2T>G) c.2335+2T>G (n.2335+2T>G) c.2326+2T>G (n.2326+2T>G) c.2317+2T>G (n.2317+2T>G) | |
| 11 | g.66241655dup | CA2614450085 | PACS1 | c.2656+2dup (n.2656+2dup) c.40+2dup (n.40+2dup) c.206+2dup c.1264+2dup (n.1264+2dup) c.2335+2dup (n.2335+2dup) c.2326+2dup (n.2326+2dup) c.2317+2dup (n.2317+2dup) | gnomAD v4 |
| 11 | g.66241656A= | CA1979644069 | PACS1 | c.2656+3A= (n.2656+3A=) c.40+3A= (n.40+3A=) c.206+3A= c.1264+3A= (n.1264+3A=) c.2335+3A= (n.2335+3A=) c.2326+3A= (n.2326+3A=) c.2317+3A= (n.2317+3A=) | |
| 11 | g.66241656A>G | CA224039569 | PACS1 | c.2656+3A>G (n.2656+3A>G) c.40+3A>G (n.40+3A>G) c.206+3A>G c.1264+3A>G (n.1264+3A>G) c.2335+3A>G (n.2335+3A>G) c.2326+3A>G (n.2326+3A>G) c.2317+3A>G (n.2317+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66241657A= | CA1979644070 | PACS1 | c.2656+4A= (n.2656+4A=) c.40+4A= (n.40+4A=) c.206+4A= c.1264+4A= (n.1264+4A=) c.2335+4A= (n.2335+4A=) c.2326+4A= (n.2326+4A=) c.2317+4A= (n.2317+4A=) | |
| 11 | g.66241657A>T | CA600231225 | PACS1 | c.2656+4A>T (n.2656+4A>T) c.40+4A>T (n.40+4A>T) c.206+4A>T c.1264+4A>T (n.1264+4A>T) c.2335+4A>T (n.2335+4A>T) c.2326+4A>T (n.2326+4A>T) c.2317+4A>T (n.2317+4A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66241661C>A | CA2614450094 | PACS1 | c.2656+8C>A (n.2656+8C>A) c.40+8C>A (n.40+8C>A) c.206+8C>A c.1264+8C>A (n.1264+8C>A) c.2335+8C>A (n.2335+8C>A) c.2326+8C>A (n.2326+8C>A) c.2317+8C>A (n.2317+8C>A) | gnomAD v4 |
| 11 | g.66241661C= | CA1979644071 | PACS1 | c.2656+8C= (n.2656+8C=) c.40+8C= (n.40+8C=) c.206+8C= c.1264+8C= (n.1264+8C=) c.2335+8C= (n.2335+8C=) c.2326+8C= (n.2326+8C=) c.2317+8C= (n.2317+8C=) | |
| 11 | g.66241661C>G | CA600231226 | PACS1 | c.2656+8C>G (n.2656+8C>G) c.40+8C>G (n.40+8C>G) c.206+8C>G c.1264+8C>G (n.1264+8C>G) c.2335+8C>G (n.2335+8C>G) c.2326+8C>G (n.2326+8C>G) c.2317+8C>G (n.2317+8C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66241661C>T | CA6116913 | PACS1 | c.2656+8C>T (n.2656+8C>T) c.40+8C>T (n.40+8C>T) c.206+8C>T c.1264+8C>T (n.1264+8C>T) c.2335+8C>T (n.2335+8C>T) c.2326+8C>T (n.2326+8C>T) c.2317+8C>T (n.2317+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66241665dup | CA2792472830 | PACS1 | c.2656+12dup (n.2656+12dup) c.40+12dup (n.40+12dup) c.206+12dup c.1264+12dup (n.1264+12dup) c.2335+12dup (n.2335+12dup) c.2326+12dup (n.2326+12dup) c.2317+12dup (n.2317+12dup) | |
| 11 | g.66241662C>A | CA600231227 | PACS1 | c.2656+9C>A (n.2656+9C>A) c.40+9C>A (n.40+9C>A) c.206+9C>A c.1264+9C>A (n.1264+9C>A) c.2335+9C>A (n.2335+9C>A) c.2326+9C>A (n.2326+9C>A) c.2317+9C>A (n.2317+9C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66241662C= | CA1979644072 | PACS1 | c.2656+9C= (n.2656+9C=) c.40+9C= (n.40+9C=) c.206+9C= c.1264+9C= (n.1264+9C=) c.2335+9C= (n.2335+9C=) c.2326+9C= (n.2326+9C=) c.2317+9C= (n.2317+9C=) | |
| 11 | g.66241662C>T | CA2574884170 | PACS1 | c.2656+9C>T (n.2656+9C>T) c.40+9C>T (n.40+9C>T) c.206+9C>T c.1264+9C>T (n.1264+9C>T) c.2335+9C>T (n.2335+9C>T) c.2326+9C>T (n.2326+9C>T) c.2317+9C>T (n.2317+9C>T) |