| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.159341539_159341562dup | CA1070051631 | RAPGEF2 | c.2052-25_2052-2dup (n.2052-25_2052-2dup) c.2535-25_2535-2dup (n.2535-25_2535-2dup) c.2517-25_2517-2dup (n.2517-25_2517-2dup) c.2181-25_2181-2dup (n.2181-25_2181-2dup) c.2187-25_2187-2dup (n.2187-25_2187-2dup) c.2199-25_2199-2dup (n.2199-25_2199-2dup) c.2169-25_2169-2dup (n.2169-25_2169-2dup) | gnomAD v3 gnomAD v4 |
| 4 | g.159341561_159341562del | CA2830535179 | RAPGEF2 | c.2052-3_2052-2del (n.2052-3_2052-2del) c.2535-3_2535-2del (n.2535-3_2535-2del) c.2517-3_2517-2del (n.2517-3_2517-2del) c.2181-3_2181-2del (n.2181-3_2181-2del) c.2187-3_2187-2del (n.2187-3_2187-2del) c.2199-3_2199-2del (n.2199-3_2199-2del) c.2169-3_2169-2del (n.2169-3_2169-2del) | |
| 4 | g.159341561T>C | CA556205739 | RAPGEF2 | c.2052-3T>C (n.2052-3T>C) c.2535-3T>C (n.2535-3T>C) c.2517-3T>C (n.2517-3T>C) c.2181-3T>C (n.2181-3T>C) c.2187-3T>C (n.2187-3T>C) c.2199-3T>C (n.2199-3T>C) c.2169-3T>C (n.2169-3T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341561T= | CA1507167689 | RAPGEF2 | c.2052-3T= (n.2052-3T=) c.2535-3T= (n.2535-3T=) c.2517-3T= (n.2517-3T=) c.2181-3T= (n.2181-3T=) c.2187-3T= (n.2187-3T=) c.2199-3T= (n.2199-3T=) c.2169-3T= (n.2169-3T=) | |
| 4 | g.159341562A= | CA1507167690 | RAPGEF2 | c.2052-2A= (n.2052-2A=) c.2535-2A= (n.2535-2A=) c.2517-2A= (n.2517-2A=) c.2181-2A= (n.2181-2A=) c.2187-2A= (n.2187-2A=) c.2199-2A= (n.2199-2A=) c.2169-2A= (n.2169-2A=) | |
| 4 | g.159341562A>C | CA358590968 | RAPGEF2 | c.2052-2A>C (n.2052-2A>C) c.2535-2A>C (n.2535-2A>C) c.2517-2A>C (n.2517-2A>C) c.2181-2A>C (n.2181-2A>C) c.2187-2A>C (n.2187-2A>C) c.2199-2A>C (n.2199-2A>C) c.2169-2A>C (n.2169-2A>C) | |
| 4 | g.159341562A>G | CA358590969 | RAPGEF2 | c.2052-2A>G (n.2052-2A>G) c.2535-2A>G (n.2535-2A>G) c.2517-2A>G (n.2517-2A>G) c.2181-2A>G (n.2181-2A>G) c.2187-2A>G (n.2187-2A>G) c.2199-2A>G (n.2199-2A>G) c.2169-2A>G (n.2169-2A>G) | |
| 4 | g.159341562A>T | CA358590970 | RAPGEF2 | c.2052-2A>T (n.2052-2A>T) c.2535-2A>T (n.2535-2A>T) c.2517-2A>T (n.2517-2A>T) c.2181-2A>T (n.2181-2A>T) c.2187-2A>T (n.2187-2A>T) c.2199-2A>T (n.2199-2A>T) c.2169-2A>T (n.2169-2A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341563G>A | CA358590971 | RAPGEF2 | c.2052-1G>A (n.2052-1G>A) c.2535-1G>A (n.2535-1G>A) c.2517-1G>A (n.2517-1G>A) c.2181-1G>A (n.2181-1G>A) c.2187-1G>A (n.2187-1G>A) c.2199-1G>A (n.2199-1G>A) c.2169-1G>A (n.2169-1G>A) | |
| 4 | g.159341563G>C | CA358590972 | RAPGEF2 | c.2052-1G>C (n.2052-1G>C) c.2535-1G>C (n.2535-1G>C) c.2517-1G>C (n.2517-1G>C) c.2181-1G>C (n.2181-1G>C) c.2187-1G>C (n.2187-1G>C) c.2199-1G>C (n.2199-1G>C) c.2169-1G>C (n.2169-1G>C) | |
| 4 | g.159341563G= | CA1507167691 | RAPGEF2 | c.2052-1G= (n.2052-1G=) c.2535-1G= (n.2535-1G=) c.2517-1G= (n.2517-1G=) c.2181-1G= (n.2181-1G=) c.2187-1G= (n.2187-1G=) c.2199-1G= (n.2199-1G=) c.2169-1G= (n.2169-1G=) | |
| 4 | g.159341563G>T | CA358590973 | RAPGEF2 | c.2052-1G>T (n.2052-1G>T) c.2535-1G>T (n.2535-1G>T) c.2517-1G>T (n.2517-1G>T) c.2181-1G>T (n.2181-1G>T) c.2187-1G>T (n.2187-1G>T) c.2199-1G>T (n.2199-1G>T) c.2169-1G>T (n.2169-1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341564G>A | CA442144654 | RAPGEF2 | c.2052G>A (p.Arg684=) c.2535G>A (p.Arg845=) c.2517G>A (p.Arg839=) c.2181G>A (p.Arg727=) c.2187G>A (p.Arg729=) c.2199G>A (p.Arg733=) c.2169G>A (p.Arg723=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341564G>C | CA358590975 | RAPGEF2 | c.2052G>C (p.Arg684Ser) c.2535G>C (p.Arg845Ser) c.2517G>C (p.Arg839Ser) c.2181G>C (p.Arg727Ser) c.2187G>C (p.Arg729Ser) c.2199G>C (p.Arg733Ser) c.2169G>C (p.Arg723Ser) | |
| 4 | g.159341564G= | CA1507167692 | RAPGEF2 | c.2052G= (p.Arg684=) c.2535G= (p.Arg845=) c.2517G= (p.Arg839=) c.2181G= (p.Arg727=) c.2187G= (p.Arg729=) c.2199G= (p.Arg733=) c.2169G= (p.Arg723=) | |
| 4 | g.159341564G>T | CA358590974 | RAPGEF2 | c.2052G>T (p.Arg684Ser) c.2535G>T (p.Arg845Ser) c.2517G>T (p.Arg839Ser) c.2181G>T (p.Arg727Ser) c.2187G>T (p.Arg729Ser) c.2199G>T (p.Arg733Ser) c.2169G>T (p.Arg723Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341565T>A | CA358590976 | RAPGEF2 | c.2053T>A (p.Tyr685Asn) c.2536T>A (p.Tyr846Asn) c.2518T>A (p.Tyr840Asn) c.2182T>A (p.Tyr728Asn) c.2188T>A (p.Tyr730Asn) c.2200T>A (p.Tyr734Asn) c.2170T>A (p.Tyr724Asn) | |
| 4 | g.159341565T>C | CA358590977 | RAPGEF2 | c.2053T>C (p.Tyr685His) c.2536T>C (p.Tyr846His) c.2518T>C (p.Tyr840His) c.2182T>C (p.Tyr728His) c.2188T>C (p.Tyr730His) c.2200T>C (p.Tyr734His) c.2170T>C (p.Tyr724His) | |
| 4 | g.159341565T>G | CA358590978 | RAPGEF2 | c.2053T>G (p.Tyr685Asp) c.2536T>G (p.Tyr846Asp) c.2518T>G (p.Tyr840Asp) c.2182T>G (p.Tyr728Asp) c.2188T>G (p.Tyr730Asp) c.2200T>G (p.Tyr734Asp) c.2170T>G (p.Tyr724Asp) | |
| 4 | g.159341566A>C | CA358590979 | RAPGEF2 | c.2054A>C (p.Tyr685Ser) c.2537A>C (p.Tyr846Ser) c.2519A>C (p.Tyr840Ser) c.2183A>C (p.Tyr728Ser) c.2189A>C (p.Tyr730Ser) c.2201A>C (p.Tyr734Ser) c.2171A>C (p.Tyr724Ser) | |
| 4 | g.159341566A>G | CA358590980 | RAPGEF2 | c.2054A>G (p.Tyr685Cys) c.2537A>G (p.Tyr846Cys) c.2519A>G (p.Tyr840Cys) c.2183A>G (p.Tyr728Cys) c.2189A>G (p.Tyr730Cys) c.2201A>G (p.Tyr734Cys) c.2171A>G (p.Tyr724Cys) | |
| 4 | g.159341566A>T | CA358590981 | RAPGEF2 | c.2054A>T (p.Tyr685Phe) c.2537A>T (p.Tyr846Phe) c.2519A>T (p.Tyr840Phe) c.2183A>T (p.Tyr728Phe) c.2189A>T (p.Tyr730Phe) c.2201A>T (p.Tyr734Phe) c.2171A>T (p.Tyr724Phe) | gnomAD v4 |
| 4 | g.159341567T>A | CA358590983 | RAPGEF2 | c.2055T>A (p.Tyr685Ter) c.2538T>A (p.Tyr846Ter) c.2520T>A (p.Tyr840Ter) c.2184T>A (p.Tyr728Ter) c.2190T>A (p.Tyr730Ter) c.2202T>A (p.Tyr734Ter) c.2172T>A (p.Tyr724Ter) | |
| 4 | g.159341567T>C | CA442144655 | RAPGEF2 | c.2055T>C (p.Tyr685=) c.2538T>C (p.Tyr846=) c.2520T>C (p.Tyr840=) c.2184T>C (p.Tyr728=) c.2190T>C (p.Tyr730=) c.2202T>C (p.Tyr734=) c.2172T>C (p.Tyr724=) | |
| 4 | g.159341567T>G | CA358590982 | RAPGEF2 | c.2055T>G (p.Tyr685Ter) c.2538T>G (p.Tyr846Ter) c.2520T>G (p.Tyr840Ter) c.2184T>G (p.Tyr728Ter) c.2190T>G (p.Tyr730Ter) c.2202T>G (p.Tyr734Ter) c.2172T>G (p.Tyr724Ter) | |
| 4 | g.159341568T>A | CA358590984 | RAPGEF2 | c.2056T>A (p.Tyr686Asn) c.2539T>A (p.Tyr847Asn) c.2521T>A (p.Tyr841Asn) c.2185T>A (p.Tyr729Asn) c.2191T>A (p.Tyr731Asn) c.2203T>A (p.Tyr735Asn) c.2173T>A (p.Tyr725Asn) | |
| 4 | g.159341568T>C | CA358590985 | RAPGEF2 | c.2056T>C (p.Tyr686His) c.2539T>C (p.Tyr847His) c.2521T>C (p.Tyr841His) c.2185T>C (p.Tyr729His) c.2191T>C (p.Tyr731His) c.2203T>C (p.Tyr735His) c.2173T>C (p.Tyr725His) | |
| 4 | g.159341568T>G | CA358590986 | RAPGEF2 | c.2056T>G (p.Tyr686Asp) c.2539T>G (p.Tyr847Asp) c.2521T>G (p.Tyr841Asp) c.2185T>G (p.Tyr729Asp) c.2191T>G (p.Tyr731Asp) c.2203T>G (p.Tyr735Asp) c.2173T>G (p.Tyr725Asp) | |
| 4 | g.159341569A>C | CA358590987 | RAPGEF2 | c.2057A>C (p.Tyr686Ser) c.2540A>C (p.Tyr847Ser) c.2522A>C (p.Tyr841Ser) c.2186A>C (p.Tyr729Ser) c.2192A>C (p.Tyr731Ser) c.2204A>C (p.Tyr735Ser) c.2174A>C (p.Tyr725Ser) | |
| 4 | g.159341569A>G | CA358590988 | RAPGEF2 | c.2057A>G (p.Tyr686Cys) c.2540A>G (p.Tyr847Cys) c.2522A>G (p.Tyr841Cys) c.2186A>G (p.Tyr729Cys) c.2192A>G (p.Tyr731Cys) c.2204A>G (p.Tyr735Cys) c.2174A>G (p.Tyr725Cys) | |
| 4 | g.159341569A>T | CA358590989 | RAPGEF2 | c.2057A>T (p.Tyr686Phe) c.2540A>T (p.Tyr847Phe) c.2522A>T (p.Tyr841Phe) c.2186A>T (p.Tyr729Phe) c.2192A>T (p.Tyr731Phe) c.2204A>T (p.Tyr735Phe) c.2174A>T (p.Tyr725Phe) | |
| 4 | g.159341569_159341570insCC | CA2830535180 | RAPGEF2 | c.2057_2058insCC (p.Lys688Ter) c.2540_2541insCC (p.Lys849Ter) c.2522_2523insCC (p.Lys843Ter) c.2186_2187insCC (p.Lys731Ter) c.2192_2193insCC (p.Lys733Ter) c.2204_2205insCC (p.Lys737Ter) c.2174_2175insCC (p.Lys727Ter) | |
| 4 | g.159341570T>A | CA358590990 | RAPGEF2 | c.2058T>A (p.Tyr686Ter) c.2541T>A (p.Tyr847Ter) c.2523T>A (p.Tyr841Ter) c.2187T>A (p.Tyr729Ter) c.2193T>A (p.Tyr731Ter) c.2205T>A (p.Tyr735Ter) c.2175T>A (p.Tyr725Ter) | |
| 4 | g.159341570T>C | CA3124785 | RAPGEF2 | c.2058T>C (p.Tyr686=) c.2541T>C (p.Tyr847=) c.2523T>C (p.Tyr841=) c.2187T>C (p.Tyr729=) c.2193T>C (p.Tyr731=) c.2205T>C (p.Tyr735=) c.2175T>C (p.Tyr725=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341570T>G | CA358590991 | RAPGEF2 | c.2058T>G (p.Tyr686Ter) c.2541T>G (p.Tyr847Ter) c.2523T>G (p.Tyr841Ter) c.2187T>G (p.Tyr729Ter) c.2193T>G (p.Tyr731Ter) c.2205T>G (p.Tyr735Ter) c.2175T>G (p.Tyr725Ter) | |
| 4 | g.159341570T= | CA1507167693 | RAPGEF2 | c.2058T= (p.Tyr686=) c.2541T= (p.Tyr847=) c.2523T= (p.Tyr841=) c.2187T= (p.Tyr729=) c.2193T= (p.Tyr731=) c.2205T= (p.Tyr735=) c.2175T= (p.Tyr725=) | |
| 4 | g.159341571C>A | CA358590992 | RAPGEF2 | c.2059C>A (p.Leu687Met) c.2542C>A (p.Leu848Met) c.2524C>A (p.Leu842Met) c.2188C>A (p.Leu730Met) c.2194C>A (p.Leu732Met) c.2206C>A (p.Leu736Met) c.2176C>A (p.Leu726Met) | |
| 4 | g.159341571C>G | CA358590993 | RAPGEF2 | c.2059C>G (p.Leu687Val) c.2542C>G (p.Leu848Val) c.2524C>G (p.Leu842Val) c.2188C>G (p.Leu730Val) c.2194C>G (p.Leu732Val) c.2206C>G (p.Leu736Val) c.2176C>G (p.Leu726Val) | gnomAD v4 |
| 4 | g.159341571C>T | CA442144656 | RAPGEF2 | c.2059C>T (p.Leu687=) c.2542C>T (p.Leu848=) c.2524C>T (p.Leu842=) c.2188C>T (p.Leu730=) c.2194C>T (p.Leu732=) c.2206C>T (p.Leu736=) c.2176C>T (p.Leu726=) | |
| 4 | g.159341572T>A | CA358590994 | RAPGEF2 | c.2060T>A (p.Leu687Gln) c.2543T>A (p.Leu848Gln) c.2525T>A (p.Leu842Gln) c.2189T>A (p.Leu730Gln) c.2195T>A (p.Leu732Gln) c.2207T>A (p.Leu736Gln) c.2177T>A (p.Leu726Gln) | |
| 4 | g.159341572T>C | CA358590995 | RAPGEF2 | c.2060T>C (p.Leu687Pro) c.2543T>C (p.Leu848Pro) c.2525T>C (p.Leu842Pro) c.2189T>C (p.Leu730Pro) c.2195T>C (p.Leu732Pro) c.2207T>C (p.Leu736Pro) c.2177T>C (p.Leu726Pro) | |
| 4 | g.159341572T>G | CA358590996 | RAPGEF2 | c.2060T>G (p.Leu687Arg) c.2543T>G (p.Leu848Arg) c.2525T>G (p.Leu842Arg) c.2189T>G (p.Leu730Arg) c.2195T>G (p.Leu732Arg) c.2207T>G (p.Leu736Arg) c.2177T>G (p.Leu726Arg) | |
| 4 | g.159341573G>A | CA442144659 | RAPGEF2 | c.2061G>A (p.Leu687=) c.2544G>A (p.Leu848=) c.2526G>A (p.Leu842=) c.2190G>A (p.Leu730=) c.2196G>A (p.Leu732=) c.2208G>A (p.Leu736=) c.2178G>A (p.Leu726=) | |
| 4 | g.159341573G>C | CA442144657 | RAPGEF2 | c.2061G>C (p.Leu687=) c.2544G>C (p.Leu848=) c.2526G>C (p.Leu842=) c.2190G>C (p.Leu730=) c.2196G>C (p.Leu732=) c.2208G>C (p.Leu736=) c.2178G>C (p.Leu726=) | |
| 4 | g.159341573G>T | CA442144658 | RAPGEF2 | c.2061G>T (p.Leu687=) c.2544G>T (p.Leu848=) c.2526G>T (p.Leu842=) c.2190G>T (p.Leu730=) c.2196G>T (p.Leu732=) c.2208G>T (p.Leu736=) c.2178G>T (p.Leu726=) | |
| 4 | g.159341574A>C | CA358590997 | RAPGEF2 | c.2062A>C (p.Lys688Gln) c.2545A>C (p.Lys849Gln) c.2527A>C (p.Lys843Gln) c.2191A>C (p.Lys731Gln) c.2197A>C (p.Lys733Gln) c.2209A>C (p.Lys737Gln) c.2179A>C (p.Lys727Gln) | |
| 4 | g.159341574A>G | CA358590998 | RAPGEF2 | c.2062A>G (p.Lys688Glu) c.2545A>G (p.Lys849Glu) c.2527A>G (p.Lys843Glu) c.2191A>G (p.Lys731Glu) c.2197A>G (p.Lys733Glu) c.2209A>G (p.Lys737Glu) c.2179A>G (p.Lys727Glu) | |
| 4 | g.159341574A>T | CA358590999 | RAPGEF2 | c.2062A>T (p.Lys688Ter) c.2545A>T (p.Lys849Ter) c.2527A>T (p.Lys843Ter) c.2191A>T (p.Lys731Ter) c.2197A>T (p.Lys733Ter) c.2209A>T (p.Lys737Ter) c.2179A>T (p.Lys727Ter) | |
| 4 | g.159341578dup | CA2764227050 | RAPGEF2 | c.2066dup (p.Asn689LysfsTer12) c.2549dup (p.Asn850LysfsTer12) c.2531dup (p.Asn844LysfsTer12) c.2195dup (p.Asn732LysfsTer12) c.2201dup (p.Asn734LysfsTer12) c.2213dup (p.Asn738LysfsTer12) c.2183dup (p.Asn728LysfsTer12) | |
| 4 | g.159341575A>C | CA358591000 | RAPGEF2 | c.2063A>C (p.Lys688Thr) c.2546A>C (p.Lys849Thr) c.2528A>C (p.Lys843Thr) c.2192A>C (p.Lys731Thr) c.2198A>C (p.Lys733Thr) c.2210A>C (p.Lys737Thr) c.2180A>C (p.Lys727Thr) | |
| 4 | g.159341575A>G | CA358591001 | RAPGEF2 | c.2063A>G (p.Lys688Arg) c.2546A>G (p.Lys849Arg) c.2528A>G (p.Lys843Arg) c.2192A>G (p.Lys731Arg) c.2198A>G (p.Lys733Arg) c.2210A>G (p.Lys737Arg) c.2180A>G (p.Lys727Arg) | |
| 4 | g.159341575A>T | CA358591002 | RAPGEF2 | c.2063A>T (p.Lys688Ile) c.2546A>T (p.Lys849Ile) c.2528A>T (p.Lys843Ile) c.2192A>T (p.Lys731Ile) c.2198A>T (p.Lys733Ile) c.2210A>T (p.Lys737Ile) c.2180A>T (p.Lys727Ile) | |
| 4 | g.159341576A>C | CA358591003 | RAPGEF2 | c.2064A>C (p.Lys688Asn) c.2547A>C (p.Lys849Asn) c.2529A>C (p.Lys843Asn) c.2193A>C (p.Lys731Asn) c.2199A>C (p.Lys733Asn) c.2211A>C (p.Lys737Asn) c.2181A>C (p.Lys727Asn) | |
| 4 | g.159341576A>G | CA442144660 | RAPGEF2 | c.2064A>G (p.Lys688=) c.2547A>G (p.Lys849=) c.2529A>G (p.Lys843=) c.2193A>G (p.Lys731=) c.2199A>G (p.Lys733=) c.2211A>G (p.Lys737=) c.2181A>G (p.Lys727=) | |
| 4 | g.159341576A>T | CA358591004 | RAPGEF2 | c.2064A>T (p.Lys688Asn) c.2547A>T (p.Lys849Asn) c.2529A>T (p.Lys843Asn) c.2193A>T (p.Lys731Asn) c.2199A>T (p.Lys733Asn) c.2211A>T (p.Lys737Asn) c.2181A>T (p.Lys727Asn) | |
| 4 | g.159341577A= | CA1507167694 | RAPGEF2 | c.2065A= (p.Asn689=) c.2548A= (p.Asn850=) c.2530A= (p.Asn844=) c.2194A= (p.Asn732=) c.2200A= (p.Asn734=) c.2212A= (p.Asn738=) c.2182A= (p.Asn728=) | |
| 4 | g.159341577A>C | CA358591005 | RAPGEF2 | c.2065A>C (p.Asn689His) c.2548A>C (p.Asn850His) c.2530A>C (p.Asn844His) c.2194A>C (p.Asn732His) c.2200A>C (p.Asn734His) c.2212A>C (p.Asn738His) c.2182A>C (p.Asn728His) | |
| 4 | g.159341577A>G | CA3124786 | RAPGEF2 | c.2065A>G (p.Asn689Asp) c.2548A>G (p.Asn850Asp) c.2530A>G (p.Asn844Asp) c.2194A>G (p.Asn732Asp) c.2200A>G (p.Asn734Asp) c.2212A>G (p.Asn738Asp) c.2182A>G (p.Asn728Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341577A>T | CA358591006 | RAPGEF2 | c.2065A>T (p.Asn689Tyr) c.2548A>T (p.Asn850Tyr) c.2530A>T (p.Asn844Tyr) c.2194A>T (p.Asn732Tyr) c.2200A>T (p.Asn734Tyr) c.2212A>T (p.Asn738Tyr) c.2182A>T (p.Asn728Tyr) | |
| 4 | g.159341578A>C | CA358591007 | RAPGEF2 | c.2066A>C (p.Asn689Thr) c.2549A>C (p.Asn850Thr) c.2531A>C (p.Asn844Thr) c.2195A>C (p.Asn732Thr) c.2201A>C (p.Asn734Thr) c.2213A>C (p.Asn738Thr) c.2183A>C (p.Asn728Thr) | |
| 4 | g.159341578A>G | CA358591008 | RAPGEF2 | c.2066A>G (p.Asn689Ser) c.2549A>G (p.Asn850Ser) c.2531A>G (p.Asn844Ser) c.2195A>G (p.Asn732Ser) c.2201A>G (p.Asn734Ser) c.2213A>G (p.Asn738Ser) c.2183A>G (p.Asn728Ser) | |
| 4 | g.159341578A>T | CA358591009 | RAPGEF2 | c.2066A>T (p.Asn689Ile) c.2549A>T (p.Asn850Ile) c.2531A>T (p.Asn844Ile) c.2195A>T (p.Asn732Ile) c.2201A>T (p.Asn734Ile) c.2213A>T (p.Asn738Ile) c.2183A>T (p.Asn728Ile) | |
| 4 | g.159341579C>A | CA358591010 | RAPGEF2 | c.2067C>A (p.Asn689Lys) c.2550C>A (p.Asn850Lys) c.2532C>A (p.Asn844Lys) c.2196C>A (p.Asn732Lys) c.2202C>A (p.Asn734Lys) c.2214C>A (p.Asn738Lys) c.2184C>A (p.Asn728Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341579C= | CA1507167695 | RAPGEF2 | c.2067C= (p.Asn689=) c.2550C= (p.Asn850=) c.2532C= (p.Asn844=) c.2196C= (p.Asn732=) c.2202C= (p.Asn734=) c.2214C= (p.Asn738=) c.2184C= (p.Asn728=) | |
| 4 | g.159341579C>G | CA358591011 | RAPGEF2 | c.2067C>G (p.Asn689Lys) c.2550C>G (p.Asn850Lys) c.2532C>G (p.Asn844Lys) c.2196C>G (p.Asn732Lys) c.2202C>G (p.Asn734Lys) c.2214C>G (p.Asn738Lys) c.2184C>G (p.Asn728Lys) | |
| 4 | g.159341579C>T | CA442144661 | RAPGEF2 | c.2067C>T (p.Asn689=) c.2550C>T (p.Asn850=) c.2532C>T (p.Asn844=) c.2196C>T (p.Asn732=) c.2202C>T (p.Asn734=) c.2214C>T (p.Asn738=) c.2184C>T (p.Asn728=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341580A>C | CA358591012 | RAPGEF2 | c.2068A>C (p.Asn690His) c.2551A>C (p.Asn851His) c.2533A>C (p.Asn845His) c.2197A>C (p.Asn733His) c.2203A>C (p.Asn735His) c.2215A>C (p.Asn739His) c.2185A>C (p.Asn729His) | |
| 4 | g.159341580A>G | CA358591013 | RAPGEF2 | c.2068A>G (p.Asn690Asp) c.2551A>G (p.Asn851Asp) c.2533A>G (p.Asn845Asp) c.2197A>G (p.Asn733Asp) c.2203A>G (p.Asn735Asp) c.2215A>G (p.Asn739Asp) c.2185A>G (p.Asn729Asp) | |
| 4 | g.159341580A>T | CA358591014 | RAPGEF2 | c.2068A>T (p.Asn690Tyr) c.2551A>T (p.Asn851Tyr) c.2533A>T (p.Asn845Tyr) c.2197A>T (p.Asn733Tyr) c.2203A>T (p.Asn735Tyr) c.2215A>T (p.Asn739Tyr) c.2185A>T (p.Asn729Tyr) | |
| 4 | g.159341581dup | CA645540199 | RAPGEF2 | c.2069dup (p.Asn690LysfsTer11) c.2552dup (p.Asn851LysfsTer11) c.2534dup (p.Asn845LysfsTer11) c.2198dup (p.Asn733LysfsTer11) c.2204dup (p.Asn735LysfsTer11) c.2216dup (p.Asn739LysfsTer11) c.2186dup (p.Asn729LysfsTer11) | COSMIC |
| 4 | g.159341581A>C | CA358591015 | RAPGEF2 | c.2069A>C (p.Asn690Thr) c.2552A>C (p.Asn851Thr) c.2534A>C (p.Asn845Thr) c.2198A>C (p.Asn733Thr) c.2204A>C (p.Asn735Thr) c.2216A>C (p.Asn739Thr) c.2186A>C (p.Asn729Thr) | |
| 4 | g.159341581A>G | CA358591016 | RAPGEF2 | c.2069A>G (p.Asn690Ser) c.2552A>G (p.Asn851Ser) c.2534A>G (p.Asn845Ser) c.2198A>G (p.Asn733Ser) c.2204A>G (p.Asn735Ser) c.2216A>G (p.Asn739Ser) c.2186A>G (p.Asn729Ser) | gnomAD v4 |
| 4 | g.159341581A>T | CA358591017 | RAPGEF2 | c.2069A>T (p.Asn690Ile) c.2552A>T (p.Asn851Ile) c.2534A>T (p.Asn845Ile) c.2198A>T (p.Asn733Ile) c.2204A>T (p.Asn735Ile) c.2216A>T (p.Asn739Ile) c.2186A>T (p.Asn729Ile) | |
| 4 | g.159341582C>A | CA358591019 | RAPGEF2 | c.2070C>A (p.Asn690Lys) c.2553C>A (p.Asn851Lys) c.2535C>A (p.Asn845Lys) c.2199C>A (p.Asn733Lys) c.2205C>A (p.Asn735Lys) c.2217C>A (p.Asn739Lys) c.2187C>A (p.Asn729Lys) | |
| 4 | g.159341582C>G | CA358591018 | RAPGEF2 | c.2070C>G (p.Asn690Lys) c.2553C>G (p.Asn851Lys) c.2535C>G (p.Asn845Lys) c.2199C>G (p.Asn733Lys) c.2205C>G (p.Asn735Lys) c.2217C>G (p.Asn739Lys) c.2187C>G (p.Asn729Lys) | |
| 4 | g.159341582C>T | CA442144662 | RAPGEF2 | c.2070C>T (p.Asn690=) c.2553C>T (p.Asn851=) c.2535C>T (p.Asn845=) c.2199C>T (p.Asn733=) c.2205C>T (p.Asn735=) c.2217C>T (p.Asn739=) c.2187C>T (p.Asn729=) | |
| 4 | g.159341583A>C | CA358591020 | RAPGEF2 | c.2071A>C (p.Met691Leu) c.2554A>C (p.Met852Leu) c.2536A>C (p.Met846Leu) c.2200A>C (p.Met734Leu) c.2206A>C (p.Met736Leu) c.2218A>C (p.Met740Leu) c.2188A>C (p.Met730Leu) | |
| 4 | g.159341583A>G | CA358591022 | RAPGEF2 | c.2071A>G (p.Met691Val) c.2554A>G (p.Met852Val) c.2536A>G (p.Met846Val) c.2200A>G (p.Met734Val) c.2206A>G (p.Met736Val) c.2218A>G (p.Met740Val) c.2188A>G (p.Met730Val) | gnomAD v4 |
| 4 | g.159341583A>T | CA358591021 | RAPGEF2 | c.2071A>T (p.Met691Leu) c.2554A>T (p.Met852Leu) c.2536A>T (p.Met846Leu) c.2200A>T (p.Met734Leu) c.2206A>T (p.Met736Leu) c.2218A>T (p.Met740Leu) c.2188A>T (p.Met730Leu) | gnomAD v4 |
| 4 | g.159341584T>A | CA358591023 | RAPGEF2 | c.2072T>A (p.Met691Lys) c.2555T>A (p.Met852Lys) c.2537T>A (p.Met846Lys) c.2201T>A (p.Met734Lys) c.2207T>A (p.Met736Lys) c.2219T>A (p.Met740Lys) c.2189T>A (p.Met730Lys) | |
| 4 | g.159341584T>C | CA3124787 | RAPGEF2 | c.2072T>C (p.Met691Thr) c.2555T>C (p.Met852Thr) c.2537T>C (p.Met846Thr) c.2201T>C (p.Met734Thr) c.2207T>C (p.Met736Thr) c.2219T>C (p.Met740Thr) c.2189T>C (p.Met730Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341584T>G | CA358591024 | RAPGEF2 | c.2072T>G (p.Met691Arg) c.2555T>G (p.Met852Arg) c.2537T>G (p.Met846Arg) c.2201T>G (p.Met734Arg) c.2207T>G (p.Met736Arg) c.2219T>G (p.Met740Arg) c.2189T>G (p.Met730Arg) | |
| 4 | g.159341584T= | CA1507167696 | RAPGEF2 | c.2072T= (p.Met691=) c.2555T= (p.Met852=) c.2537T= (p.Met846=) c.2201T= (p.Met734=) c.2207T= (p.Met736=) c.2219T= (p.Met740=) c.2189T= (p.Met730=) | |
| 4 | g.159341585G>A | CA3124788 | RAPGEF2 | c.2073G>A (p.Met691Ile) c.2556G>A (p.Met852Ile) c.2538G>A (p.Met846Ile) c.2202G>A (p.Met734Ile) c.2208G>A (p.Met736Ile) c.2220G>A (p.Met740Ile) c.2190G>A (p.Met730Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341585G>C | CA358591025 | RAPGEF2 | c.2073G>C (p.Met691Ile) c.2556G>C (p.Met852Ile) c.2538G>C (p.Met846Ile) c.2202G>C (p.Met734Ile) c.2208G>C (p.Met736Ile) c.2220G>C (p.Met740Ile) c.2190G>C (p.Met730Ile) | |
| 4 | g.159341585G= | CA1507167697 | RAPGEF2 | c.2073G= (p.Met691=) c.2556G= (p.Met852=) c.2538G= (p.Met846=) c.2202G= (p.Met734=) c.2208G= (p.Met736=) c.2220G= (p.Met740=) c.2190G= (p.Met730=) | |
| 4 | g.159341585G>T | CA358591026 | RAPGEF2 | c.2073G>T (p.Met691Ile) c.2556G>T (p.Met852Ile) c.2538G>T (p.Met846Ile) c.2202G>T (p.Met734Ile) c.2208G>T (p.Met736Ile) c.2220G>T (p.Met740Ile) c.2190G>T (p.Met730Ile) | |
| 4 | g.159341586G>A | CA358591027 | RAPGEF2 | c.2074G>A (p.Glu692Lys) c.2557G>A (p.Glu853Lys) c.2539G>A (p.Glu847Lys) c.2203G>A (p.Glu735Lys) c.2209G>A (p.Glu737Lys) c.2221G>A (p.Glu741Lys) c.2191G>A (p.Glu731Lys) | gnomAD v4 |
| 4 | g.159341586G>C | CA358591028 | RAPGEF2 | c.2074G>C (p.Glu692Gln) c.2557G>C (p.Glu853Gln) c.2539G>C (p.Glu847Gln) c.2203G>C (p.Glu735Gln) c.2209G>C (p.Glu737Gln) c.2221G>C (p.Glu741Gln) c.2191G>C (p.Glu731Gln) | |
| 4 | g.159341586G>T | CA358591029 | RAPGEF2 | c.2074G>T (p.Glu692Ter) c.2557G>T (p.Glu853Ter) c.2539G>T (p.Glu847Ter) c.2203G>T (p.Glu735Ter) c.2209G>T (p.Glu737Ter) c.2221G>T (p.Glu741Ter) c.2191G>T (p.Glu731Ter) | |
| 4 | g.159341587A>C | CA358591030 | RAPGEF2 | c.2075A>C (p.Glu692Ala) c.2558A>C (p.Glu853Ala) c.2540A>C (p.Glu847Ala) c.2204A>C (p.Glu735Ala) c.2210A>C (p.Glu737Ala) c.2222A>C (p.Glu741Ala) c.2192A>C (p.Glu731Ala) | |
| 4 | g.159341587A>G | CA358591031 | RAPGEF2 | c.2075A>G (p.Glu692Gly) c.2558A>G (p.Glu853Gly) c.2540A>G (p.Glu847Gly) c.2204A>G (p.Glu735Gly) c.2210A>G (p.Glu737Gly) c.2222A>G (p.Glu741Gly) c.2192A>G (p.Glu731Gly) | gnomAD v4 |
| 4 | g.159341587A>T | CA358591032 | RAPGEF2 | c.2075A>T (p.Glu692Val) c.2558A>T (p.Glu853Val) c.2540A>T (p.Glu847Val) c.2204A>T (p.Glu735Val) c.2210A>T (p.Glu737Val) c.2222A>T (p.Glu741Val) c.2192A>T (p.Glu731Val) | |
| 4 | g.159341588A= | CA1507167698 | RAPGEF2 | c.2076A= (p.Glu692=) c.2559A= (p.Glu853=) c.2541A= (p.Glu847=) c.2205A= (p.Glu735=) c.2211A= (p.Glu737=) c.2223A= (p.Glu741=) c.2193A= (p.Glu731=) | |
| 4 | g.159341588A>C | CA358591033 | RAPGEF2 | c.2076A>C (p.Glu692Asp) c.2559A>C (p.Glu853Asp) c.2541A>C (p.Glu847Asp) c.2205A>C (p.Glu735Asp) c.2211A>C (p.Glu737Asp) c.2223A>C (p.Glu741Asp) c.2193A>C (p.Glu731Asp) | |
| 4 | g.159341588A>G | CA442144663 | RAPGEF2 | c.2076A>G (p.Glu692=) c.2559A>G (p.Glu853=) c.2541A>G (p.Glu847=) c.2205A>G (p.Glu735=) c.2211A>G (p.Glu737=) c.2223A>G (p.Glu741=) c.2193A>G (p.Glu731=) | dbSNP gnomAD v4 |
| 4 | g.159341588A>T | CA358591034 | RAPGEF2 | c.2076A>T (p.Glu692Asp) c.2559A>T (p.Glu853Asp) c.2541A>T (p.Glu847Asp) c.2205A>T (p.Glu735Asp) c.2211A>T (p.Glu737Asp) c.2223A>T (p.Glu741Asp) c.2193A>T (p.Glu731Asp) | |
| 4 | g.159341589A>C | CA358591037 | RAPGEF2 | c.2077A>C (p.Thr693Pro) c.2560A>C (p.Thr854Pro) c.2542A>C (p.Thr848Pro) c.2206A>C (p.Thr736Pro) c.2212A>C (p.Thr738Pro) c.2224A>C (p.Thr742Pro) c.2194A>C (p.Thr732Pro) | |
| 4 | g.159341589A>G | CA358591035 | RAPGEF2 | c.2077A>G (p.Thr693Ala) c.2560A>G (p.Thr854Ala) c.2542A>G (p.Thr848Ala) c.2206A>G (p.Thr736Ala) c.2212A>G (p.Thr738Ala) c.2224A>G (p.Thr742Ala) c.2194A>G (p.Thr732Ala) | |
| 4 | g.159341589A>T | CA358591036 | RAPGEF2 | c.2077A>T (p.Thr693Ser) c.2560A>T (p.Thr854Ser) c.2542A>T (p.Thr848Ser) c.2206A>T (p.Thr736Ser) c.2212A>T (p.Thr738Ser) c.2224A>T (p.Thr742Ser) c.2194A>T (p.Thr732Ser) | |
| 4 | g.159341590C>A | CA358591038 | RAPGEF2 | c.2078C>A (p.Thr693Lys) c.2561C>A (p.Thr854Lys) c.2543C>A (p.Thr848Lys) c.2207C>A (p.Thr736Lys) c.2213C>A (p.Thr738Lys) c.2225C>A (p.Thr742Lys) c.2195C>A (p.Thr732Lys) | |
| 4 | g.159341590C>G | CA358591039 | RAPGEF2 | c.2078C>G (p.Thr693Arg) c.2561C>G (p.Thr854Arg) c.2543C>G (p.Thr848Arg) c.2207C>G (p.Thr736Arg) c.2213C>G (p.Thr738Arg) c.2225C>G (p.Thr742Arg) c.2195C>G (p.Thr732Arg) | |
| 4 | g.159341590C>T | CA358591040 | RAPGEF2 | c.2078C>T (p.Thr693Ile) c.2561C>T (p.Thr854Ile) c.2543C>T (p.Thr848Ile) c.2207C>T (p.Thr736Ile) c.2213C>T (p.Thr738Ile) c.2225C>T (p.Thr742Ile) c.2195C>T (p.Thr732Ile) | |
| 4 | g.159341591A>C | CA442144666 | RAPGEF2 | c.2079A>C (p.Thr693=) c.2562A>C (p.Thr854=) c.2544A>C (p.Thr848=) c.2208A>C (p.Thr736=) c.2214A>C (p.Thr738=) c.2226A>C (p.Thr742=) c.2196A>C (p.Thr732=) | |
| 4 | g.159341591A>G | CA442144664 | RAPGEF2 | c.2079A>G (p.Thr693=) c.2562A>G (p.Thr854=) c.2544A>G (p.Thr848=) c.2208A>G (p.Thr736=) c.2214A>G (p.Thr738=) c.2226A>G (p.Thr742=) c.2196A>G (p.Thr732=) | |
| 4 | g.159341591A>T | CA442144665 | RAPGEF2 | c.2079A>T (p.Thr693=) c.2562A>T (p.Thr854=) c.2544A>T (p.Thr848=) c.2208A>T (p.Thr736=) c.2214A>T (p.Thr738=) c.2226A>T (p.Thr742=) c.2196A>T (p.Thr732=) | |
| 4 | g.159341592_159341593del | CA2672534869 | RAPGEF2 | c.2080_2081del (p.Glu694AsnfsTer6) c.2563_2564del (p.Glu855AsnfsTer6) c.2545_2546del (p.Glu849AsnfsTer6) c.2209_2210del (p.Glu737AsnfsTer6) c.2215_2216del (p.Glu739AsnfsTer6) c.2227_2228del (p.Glu743AsnfsTer6) c.2197_2198del (p.Glu733AsnfsTer6) | gnomAD v4 |
| 4 | g.159341592G>A | CA358591041 | RAPGEF2 | c.2080G>A (p.Glu694Lys) c.2563G>A (p.Glu855Lys) c.2545G>A (p.Glu849Lys) c.2209G>A (p.Glu737Lys) c.2215G>A (p.Glu739Lys) c.2227G>A (p.Glu743Lys) c.2197G>A (p.Glu733Lys) | |
| 4 | g.159341592G>C | CA358591042 | RAPGEF2 | c.2080G>C (p.Glu694Gln) c.2563G>C (p.Glu855Gln) c.2545G>C (p.Glu849Gln) c.2209G>C (p.Glu737Gln) c.2215G>C (p.Glu739Gln) c.2227G>C (p.Glu743Gln) c.2197G>C (p.Glu733Gln) | |
| 4 | g.159341592G>T | CA358591043 | RAPGEF2 | c.2080G>T (p.Glu694Ter) c.2563G>T (p.Glu855Ter) c.2545G>T (p.Glu849Ter) c.2209G>T (p.Glu737Ter) c.2215G>T (p.Glu739Ter) c.2227G>T (p.Glu743Ter) c.2197G>T (p.Glu733Ter) | |
| 4 | g.159341593A>C | CA358591044 | RAPGEF2 | c.2081A>C (p.Glu694Ala) c.2564A>C (p.Glu855Ala) c.2546A>C (p.Glu849Ala) c.2210A>C (p.Glu737Ala) c.2216A>C (p.Glu739Ala) c.2228A>C (p.Glu743Ala) c.2198A>C (p.Glu733Ala) | |
| 4 | g.159341593A>G | CA358591045 | RAPGEF2 | c.2081A>G (p.Glu694Gly) c.2564A>G (p.Glu855Gly) c.2546A>G (p.Glu849Gly) c.2210A>G (p.Glu737Gly) c.2216A>G (p.Glu739Gly) c.2228A>G (p.Glu743Gly) c.2198A>G (p.Glu733Gly) | |
| 4 | g.159341593A>T | CA358591046 | RAPGEF2 | c.2081A>T (p.Glu694Val) c.2564A>T (p.Glu855Val) c.2546A>T (p.Glu849Val) c.2210A>T (p.Glu737Val) c.2216A>T (p.Glu739Val) c.2228A>T (p.Glu743Val) c.2198A>T (p.Glu733Val) | |
| 4 | g.159341594A= | CA1507167699 | RAPGEF2 | c.2082A= (p.Glu694=) c.2565A= (p.Glu855=) c.2547A= (p.Glu849=) c.2211A= (p.Glu737=) c.2217A= (p.Glu739=) c.2229A= (p.Glu743=) c.2199A= (p.Glu733=) | |
| 4 | g.159341594A>C | CA358591047 | RAPGEF2 | c.2082A>C (p.Glu694Asp) c.2565A>C (p.Glu855Asp) c.2547A>C (p.Glu849Asp) c.2211A>C (p.Glu737Asp) c.2217A>C (p.Glu739Asp) c.2229A>C (p.Glu743Asp) c.2199A>C (p.Glu733Asp) | |
| 4 | g.159341594A>G | CA442144667 | RAPGEF2 | c.2082A>G (p.Glu694=) c.2565A>G (p.Glu855=) c.2547A>G (p.Glu849=) c.2211A>G (p.Glu737=) c.2217A>G (p.Glu739=) c.2229A>G (p.Glu743=) c.2199A>G (p.Glu733=) | |
| 4 | g.159341594A>T | CA358591048 | RAPGEF2 | c.2082A>T (p.Glu694Asp) c.2565A>T (p.Glu855Asp) c.2547A>T (p.Glu849Asp) c.2211A>T (p.Glu737Asp) c.2217A>T (p.Glu739Asp) c.2229A>T (p.Glu743Asp) c.2199A>T (p.Glu733Asp) | dbSNP |
| 4 | g.159341595A>C | CA358591050 | RAPGEF2 | c.2083A>C (p.Thr695Pro) c.2566A>C (p.Thr856Pro) c.2548A>C (p.Thr850Pro) c.2212A>C (p.Thr738Pro) c.2218A>C (p.Thr740Pro) c.2230A>C (p.Thr744Pro) c.2200A>C (p.Thr734Pro) | |
| 4 | g.159341595A>G | CA358591051 | RAPGEF2 | c.2083A>G (p.Thr695Ala) c.2566A>G (p.Thr856Ala) c.2548A>G (p.Thr850Ala) c.2212A>G (p.Thr738Ala) c.2218A>G (p.Thr740Ala) c.2230A>G (p.Thr744Ala) c.2200A>G (p.Thr734Ala) | |
| 4 | g.159341595A>T | CA358591049 | RAPGEF2 | c.2083A>T (p.Thr695Ser) c.2566A>T (p.Thr856Ser) c.2548A>T (p.Thr850Ser) c.2212A>T (p.Thr738Ser) c.2218A>T (p.Thr740Ser) c.2230A>T (p.Thr744Ser) c.2200A>T (p.Thr734Ser) | |
| 4 | g.159341596C>A | CA358591052 | RAPGEF2 | c.2084C>A (p.Thr695Asn) c.2567C>A (p.Thr856Asn) c.2549C>A (p.Thr850Asn) c.2213C>A (p.Thr738Asn) c.2219C>A (p.Thr740Asn) c.2231C>A (p.Thr744Asn) c.2201C>A (p.Thr734Asn) | |
| 4 | g.159341596C>G | CA358591053 | RAPGEF2 | c.2084C>G (p.Thr695Ser) c.2567C>G (p.Thr856Ser) c.2549C>G (p.Thr850Ser) c.2213C>G (p.Thr738Ser) c.2219C>G (p.Thr740Ser) c.2231C>G (p.Thr744Ser) c.2201C>G (p.Thr734Ser) | |
| 4 | g.159341596C>T | CA358591054 | RAPGEF2 | c.2084C>T (p.Thr695Ile) c.2567C>T (p.Thr856Ile) c.2549C>T (p.Thr850Ile) c.2213C>T (p.Thr738Ile) c.2219C>T (p.Thr740Ile) c.2231C>T (p.Thr744Ile) c.2201C>T (p.Thr734Ile) | |
| 4 | g.159341597T>A | CA442144668 | RAPGEF2 | c.2085T>A (p.Thr695=) c.2568T>A (p.Thr856=) c.2550T>A (p.Thr850=) c.2214T>A (p.Thr738=) c.2220T>A (p.Thr740=) c.2232T>A (p.Thr744=) c.2202T>A (p.Thr734=) | |
| 4 | g.159341597T>C | CA442144669 | RAPGEF2 | c.2085T>C (p.Thr695=) c.2568T>C (p.Thr856=) c.2550T>C (p.Thr850=) c.2214T>C (p.Thr738=) c.2220T>C (p.Thr740=) c.2232T>C (p.Thr744=) c.2202T>C (p.Thr734=) | |
| 4 | g.159341597T>G | CA442144670 | RAPGEF2 | c.2085T>G (p.Thr695=) c.2568T>G (p.Thr856=) c.2550T>G (p.Thr850=) c.2214T>G (p.Thr738=) c.2220T>G (p.Thr740=) c.2232T>G (p.Thr744=) c.2202T>G (p.Thr734=) | dbSNP gnomAD v4 |
| 4 | g.159341597T= | CA1507167700 | RAPGEF2 | c.2085T= (p.Thr695=) c.2568T= (p.Thr856=) c.2550T= (p.Thr850=) c.2214T= (p.Thr738=) c.2220T= (p.Thr740=) c.2232T= (p.Thr744=) c.2202T= (p.Thr734=) | |
| 4 | g.159341598C>A | CA358591055 | RAPGEF2 | c.2086C>A (p.Leu696Ile) c.2569C>A (p.Leu857Ile) c.2551C>A (p.Leu851Ile) c.2215C>A (p.Leu739Ile) c.2221C>A (p.Leu741Ile) c.2233C>A (p.Leu745Ile) c.2203C>A (p.Leu735Ile) | |
| 4 | g.159341598C>G | CA358591056 | RAPGEF2 | c.2086C>G (p.Leu696Val) c.2569C>G (p.Leu857Val) c.2551C>G (p.Leu851Val) c.2215C>G (p.Leu739Val) c.2221C>G (p.Leu741Val) c.2233C>G (p.Leu745Val) c.2203C>G (p.Leu735Val) | |
| 4 | g.159341598C>T | CA358591057 | RAPGEF2 | c.2086C>T (p.Leu696Phe) c.2569C>T (p.Leu857Phe) c.2551C>T (p.Leu851Phe) c.2215C>T (p.Leu739Phe) c.2221C>T (p.Leu741Phe) c.2233C>T (p.Leu745Phe) c.2203C>T (p.Leu735Phe) | |
| 4 | g.159341599T>A | CA358591058 | RAPGEF2 | c.2087T>A (p.Leu696His) c.2570T>A (p.Leu857His) c.2552T>A (p.Leu851His) c.2216T>A (p.Leu739His) c.2222T>A (p.Leu741His) c.2234T>A (p.Leu745His) c.2204T>A (p.Leu735His) | |
| 4 | g.159341599T>C | CA358591059 | RAPGEF2 | c.2087T>C (p.Leu696Pro) c.2570T>C (p.Leu857Pro) c.2552T>C (p.Leu851Pro) c.2216T>C (p.Leu739Pro) c.2222T>C (p.Leu741Pro) c.2234T>C (p.Leu745Pro) c.2204T>C (p.Leu735Pro) | |
| 4 | g.159341599T>G | CA358591060 | RAPGEF2 | c.2087T>G (p.Leu696Arg) c.2570T>G (p.Leu857Arg) c.2552T>G (p.Leu851Arg) c.2216T>G (p.Leu739Arg) c.2222T>G (p.Leu741Arg) c.2234T>G (p.Leu745Arg) c.2204T>G (p.Leu735Arg) | |
| 4 | g.159341600T>A | CA442144671 | RAPGEF2 | c.2088T>A (p.Leu696=) c.2571T>A (p.Leu857=) c.2553T>A (p.Leu851=) c.2217T>A (p.Leu739=) c.2223T>A (p.Leu741=) c.2235T>A (p.Leu745=) c.2205T>A (p.Leu735=) | |
| 4 | g.159341600T>C | CA442144672 | RAPGEF2 | c.2088T>C (p.Leu696=) c.2571T>C (p.Leu857=) c.2553T>C (p.Leu851=) c.2217T>C (p.Leu739=) c.2223T>C (p.Leu741=) c.2235T>C (p.Leu745=) c.2205T>C (p.Leu735=) | dbSNP gnomAD v4 |
| 4 | g.159341600T>G | CA442144673 | RAPGEF2 | c.2088T>G (p.Leu696=) c.2571T>G (p.Leu857=) c.2553T>G (p.Leu851=) c.2217T>G (p.Leu739=) c.2223T>G (p.Leu741=) c.2235T>G (p.Leu745=) c.2205T>G (p.Leu735=) | |
| 4 | g.159341600T= | CA1507167701 | RAPGEF2 | c.2088T= (p.Leu696=) c.2571T= (p.Leu857=) c.2553T= (p.Leu851=) c.2217T= (p.Leu739=) c.2223T= (p.Leu741=) c.2235T= (p.Leu745=) c.2205T= (p.Leu735=) | |
| 4 | g.159341601T>A | CA358591061 | RAPGEF2 | c.2089T>A (p.Cys697Ser) c.2572T>A (p.Cys858Ser) c.2554T>A (p.Cys852Ser) c.2218T>A (p.Cys740Ser) c.2224T>A (p.Cys742Ser) c.2236T>A (p.Cys746Ser) c.2206T>A (p.Cys736Ser) | |
| 4 | g.159341601T>C | CA358591062 | RAPGEF2 | c.2089T>C (p.Cys697Arg) c.2572T>C (p.Cys858Arg) c.2554T>C (p.Cys852Arg) c.2218T>C (p.Cys740Arg) c.2224T>C (p.Cys742Arg) c.2236T>C (p.Cys746Arg) c.2206T>C (p.Cys736Arg) | |
| 4 | g.159341601T>G | CA358591063 | RAPGEF2 | c.2089T>G (p.Cys697Gly) c.2572T>G (p.Cys858Gly) c.2554T>G (p.Cys852Gly) c.2218T>G (p.Cys740Gly) c.2224T>G (p.Cys742Gly) c.2236T>G (p.Cys746Gly) c.2206T>G (p.Cys736Gly) | |
| 4 | g.159341602G>A | CA358591065 | RAPGEF2 | c.2090G>A (p.Cys697Tyr) c.2573G>A (p.Cys858Tyr) c.2555G>A (p.Cys852Tyr) c.2219G>A (p.Cys740Tyr) c.2225G>A (p.Cys742Tyr) c.2237G>A (p.Cys746Tyr) c.2207G>A (p.Cys736Tyr) | |
| 4 | g.159341602G>C | CA358591066 | RAPGEF2 | c.2090G>C (p.Cys697Ser) c.2573G>C (p.Cys858Ser) c.2555G>C (p.Cys852Ser) c.2219G>C (p.Cys740Ser) c.2225G>C (p.Cys742Ser) c.2237G>C (p.Cys746Ser) c.2207G>C (p.Cys736Ser) | |
| 4 | g.159341602G>T | CA358591064 | RAPGEF2 | c.2090G>T (p.Cys697Phe) c.2573G>T (p.Cys858Phe) c.2555G>T (p.Cys852Phe) c.2219G>T (p.Cys740Phe) c.2225G>T (p.Cys742Phe) c.2237G>T (p.Cys746Phe) c.2207G>T (p.Cys736Phe) | |
| 4 | g.159341603T>A | CA358591067 | RAPGEF2 | c.2091T>A (p.Cys697Ter) c.2574T>A (p.Cys858Ter) c.2556T>A (p.Cys852Ter) c.2220T>A (p.Cys740Ter) c.2226T>A (p.Cys742Ter) c.2238T>A (p.Cys746Ter) c.2208T>A (p.Cys736Ter) | |
| 4 | g.159341603T>C | CA442144674 | RAPGEF2 | c.2091T>C (p.Cys697=) c.2574T>C (p.Cys858=) c.2556T>C (p.Cys852=) c.2220T>C (p.Cys740=) c.2226T>C (p.Cys742=) c.2238T>C (p.Cys746=) c.2208T>C (p.Cys736=) | |
| 4 | g.159341603T>G | CA358591068 | RAPGEF2 | c.2091T>G (p.Cys697Trp) c.2574T>G (p.Cys858Trp) c.2556T>G (p.Cys852Trp) c.2220T>G (p.Cys740Trp) c.2226T>G (p.Cys742Trp) c.2238T>G (p.Cys746Trp) c.2208T>G (p.Cys736Trp) | |
| 4 | g.159341604T>A | CA358591069 | RAPGEF2 | c.2092T>A (p.Ser698Thr) c.2575T>A (p.Ser859Thr) c.2557T>A (p.Ser853Thr) c.2221T>A (p.Ser741Thr) c.2227T>A (p.Ser743Thr) c.2239T>A (p.Ser747Thr) c.2209T>A (p.Ser737Thr) | |
| 4 | g.159341604T>C | CA358591070 | RAPGEF2 | c.2092T>C (p.Ser698Pro) c.2575T>C (p.Ser859Pro) c.2557T>C (p.Ser853Pro) c.2221T>C (p.Ser741Pro) c.2227T>C (p.Ser743Pro) c.2239T>C (p.Ser747Pro) c.2209T>C (p.Ser737Pro) | |
| 4 | g.159341604T>G | CA358591071 | RAPGEF2 | c.2092T>G (p.Ser698Ala) c.2575T>G (p.Ser859Ala) c.2557T>G (p.Ser853Ala) c.2221T>G (p.Ser741Ala) c.2227T>G (p.Ser743Ala) c.2239T>G (p.Ser747Ala) c.2209T>G (p.Ser737Ala) | |
| 4 | g.159341605C>A | CA358591073 | RAPGEF2 | c.2093C>A (p.Ser698Ter) c.2576C>A (p.Ser859Ter) c.2558C>A (p.Ser853Ter) c.2222C>A (p.Ser741Ter) c.2228C>A (p.Ser743Ter) c.2240C>A (p.Ser747Ter) c.2210C>A (p.Ser737Ter) | |
| 4 | g.159341605C= | CA1507167702 | RAPGEF2 | c.2093C= (p.Ser698=) c.2576C= (p.Ser859=) c.2558C= (p.Ser853=) c.2222C= (p.Ser741=) c.2228C= (p.Ser743=) c.2240C= (p.Ser747=) c.2210C= (p.Ser737=) | |
| 4 | g.159341605C>G | CA108901819 | RAPGEF2 | c.2093C>G (p.Ser698Ter) c.2576C>G (p.Ser859Ter) c.2558C>G (p.Ser853Ter) c.2222C>G (p.Ser741Ter) c.2228C>G (p.Ser743Ter) c.2240C>G (p.Ser747Ter) c.2210C>G (p.Ser737Ter) | dbSNP |
| 4 | g.159341605C>T | CA358591072 | RAPGEF2 | c.2093C>T (p.Ser698Leu) c.2576C>T (p.Ser859Leu) c.2558C>T (p.Ser853Leu) c.2222C>T (p.Ser741Leu) c.2228C>T (p.Ser743Leu) c.2240C>T (p.Ser747Leu) c.2210C>T (p.Ser737Leu) | |
| 4 | g.159341606A>C | CA442144675 | RAPGEF2 | c.2094A>C (p.Ser698=) c.2577A>C (p.Ser859=) c.2559A>C (p.Ser853=) c.2223A>C (p.Ser741=) c.2229A>C (p.Ser743=) c.2241A>C (p.Ser747=) c.2211A>C (p.Ser737=) | |
| 4 | g.159341606A>G | CA442144676 | RAPGEF2 | c.2094A>G (p.Ser698=) c.2577A>G (p.Ser859=) c.2559A>G (p.Ser853=) c.2223A>G (p.Ser741=) c.2229A>G (p.Ser743=) c.2241A>G (p.Ser747=) c.2211A>G (p.Ser737=) | |
| 4 | g.159341606A>T | CA442144677 | RAPGEF2 | c.2094A>T (p.Ser698=) c.2577A>T (p.Ser859=) c.2559A>T (p.Ser853=) c.2223A>T (p.Ser741=) c.2229A>T (p.Ser743=) c.2241A>T (p.Ser747=) c.2211A>T (p.Ser737=) | |
| 4 | g.159341607G>A | CA358591074 | RAPGEF2 | c.2095G>A (p.Asp699Asn) c.2578G>A (p.Asp860Asn) c.2560G>A (p.Asp854Asn) c.2224G>A (p.Asp742Asn) c.2230G>A (p.Asp744Asn) c.2242G>A (p.Asp748Asn) c.2212G>A (p.Asp738Asn) | |
| 4 | g.159341607G>C | CA358591075 | RAPGEF2 | c.2095G>C (p.Asp699His) c.2578G>C (p.Asp860His) c.2560G>C (p.Asp854His) c.2224G>C (p.Asp742His) c.2230G>C (p.Asp744His) c.2242G>C (p.Asp748His) c.2212G>C (p.Asp738His) | |
| 4 | g.159341607G>T | CA358591076 | RAPGEF2 | c.2095G>T (p.Asp699Tyr) c.2578G>T (p.Asp860Tyr) c.2560G>T (p.Asp854Tyr) c.2224G>T (p.Asp742Tyr) c.2230G>T (p.Asp744Tyr) c.2242G>T (p.Asp748Tyr) c.2212G>T (p.Asp738Tyr) | |
| 4 | g.159341608A= | CA1507167703 | RAPGEF2 | c.2096A= (p.Asp699=) c.2579A= (p.Asp860=) c.2561A= (p.Asp854=) c.2225A= (p.Asp742=) c.2231A= (p.Asp744=) c.2243A= (p.Asp748=) c.2213A= (p.Asp738=) | |
| 4 | g.159341608A>C | CA358591077 | RAPGEF2 | c.2096A>C (p.Asp699Ala) c.2579A>C (p.Asp860Ala) c.2561A>C (p.Asp854Ala) c.2225A>C (p.Asp742Ala) c.2231A>C (p.Asp744Ala) c.2243A>C (p.Asp748Ala) c.2213A>C (p.Asp738Ala) | |
| 4 | g.159341608A>G | CA358591078 | RAPGEF2 | c.2096A>G (p.Asp699Gly) c.2579A>G (p.Asp860Gly) c.2561A>G (p.Asp854Gly) c.2225A>G (p.Asp742Gly) c.2231A>G (p.Asp744Gly) c.2243A>G (p.Asp748Gly) c.2213A>G (p.Asp738Gly) | |
| 4 | g.159341608A>T | CA358591079 | RAPGEF2 | c.2096A>T (p.Asp699Val) c.2579A>T (p.Asp860Val) c.2561A>T (p.Asp854Val) c.2225A>T (p.Asp742Val) c.2231A>T (p.Asp744Val) c.2243A>T (p.Asp748Val) c.2213A>T (p.Asp738Val) | dbSNP |
| 4 | g.159341609T>A | CA358591080 | RAPGEF2 | c.2097T>A (p.Asp699Glu) c.2580T>A (p.Asp860Glu) c.2562T>A (p.Asp854Glu) c.2226T>A (p.Asp742Glu) c.2232T>A (p.Asp744Glu) c.2244T>A (p.Asp748Glu) c.2214T>A (p.Asp738Glu) | |
| 4 | g.159341609T>C | CA442144678 | RAPGEF2 | c.2097T>C (p.Asp699=) c.2580T>C (p.Asp860=) c.2562T>C (p.Asp854=) c.2226T>C (p.Asp742=) c.2232T>C (p.Asp744=) c.2244T>C (p.Asp748=) c.2214T>C (p.Asp738=) | |
| 4 | g.159341609T>G | CA358591081 | RAPGEF2 | c.2097T>G (p.Asp699Glu) c.2580T>G (p.Asp860Glu) c.2562T>G (p.Asp854Glu) c.2226T>G (p.Asp742Glu) c.2232T>G (p.Asp744Glu) c.2244T>G (p.Asp748Glu) c.2214T>G (p.Asp738Glu) | |
| 4 | g.159341610G>A | CA358591082 | RAPGEF2 | c.2098G>A (p.Glu700Lys) c.2581G>A (p.Glu861Lys) c.2563G>A (p.Glu855Lys) c.2227G>A (p.Glu743Lys) c.2233G>A (p.Glu745Lys) c.2245G>A (p.Glu749Lys) c.2215G>A (p.Glu739Lys) | COSMIC |
| 4 | g.159341610G>C | CA358591083 | RAPGEF2 | c.2098G>C (p.Glu700Gln) c.2581G>C (p.Glu861Gln) c.2563G>C (p.Glu855Gln) c.2227G>C (p.Glu743Gln) c.2233G>C (p.Glu745Gln) c.2245G>C (p.Glu749Gln) c.2215G>C (p.Glu739Gln) | |
| 4 | g.159341610G>T | CA358591084 | RAPGEF2 | c.2098G>T (p.Glu700Ter) c.2581G>T (p.Glu861Ter) c.2563G>T (p.Glu855Ter) c.2227G>T (p.Glu743Ter) c.2233G>T (p.Glu745Ter) c.2245G>T (p.Glu749Ter) c.2215G>T (p.Glu739Ter) | |
| 4 | g.159341611A>C | CA358591085 | RAPGEF2 | c.2099A>C (p.Glu700Ala) c.2582A>C (p.Glu861Ala) c.2564A>C (p.Glu855Ala) c.2228A>C (p.Glu743Ala) c.2234A>C (p.Glu745Ala) c.2246A>C (p.Glu749Ala) c.2216A>C (p.Glu739Ala) | |
| 4 | g.159341611A>G | CA358591086 | RAPGEF2 | c.2099A>G (p.Glu700Gly) c.2582A>G (p.Glu861Gly) c.2564A>G (p.Glu855Gly) c.2228A>G (p.Glu743Gly) c.2234A>G (p.Glu745Gly) c.2246A>G (p.Glu749Gly) c.2216A>G (p.Glu739Gly) | |
| 4 | g.159341611A>T | CA358591087 | RAPGEF2 | c.2099A>T (p.Glu700Val) c.2582A>T (p.Glu861Val) c.2564A>T (p.Glu855Val) c.2228A>T (p.Glu743Val) c.2234A>T (p.Glu745Val) c.2246A>T (p.Glu749Val) c.2216A>T (p.Glu739Val) | |
| 4 | g.159341612A>C | CA358591088 | RAPGEF2 | c.2100A>C (p.Glu700Asp) c.2583A>C (p.Glu861Asp) c.2565A>C (p.Glu855Asp) c.2229A>C (p.Glu743Asp) c.2235A>C (p.Glu745Asp) c.2247A>C (p.Glu749Asp) c.2217A>C (p.Glu739Asp) | |
| 4 | g.159341612A>G | CA442144679 | RAPGEF2 | c.2100A>G (p.Glu700=) c.2583A>G (p.Glu861=) c.2565A>G (p.Glu855=) c.2229A>G (p.Glu743=) c.2235A>G (p.Glu745=) c.2247A>G (p.Glu749=) c.2217A>G (p.Glu739=) | |
| 4 | g.159341612A>T | CA358591089 | RAPGEF2 | c.2100A>T (p.Glu700Asp) c.2583A>T (p.Glu861Asp) c.2565A>T (p.Glu855Asp) c.2229A>T (p.Glu743Asp) c.2235A>T (p.Glu745Asp) c.2247A>T (p.Glu749Asp) c.2217A>T (p.Glu739Asp) | |
| 4 | g.159341613G>A | CA358591090 | RAPGEF2 | c.2101G>A (p.Asp701Asn) c.2584G>A (p.Asp862Asn) c.2566G>A (p.Asp856Asn) c.2230G>A (p.Asp744Asn) c.2236G>A (p.Asp746Asn) c.2248G>A (p.Asp750Asn) c.2218G>A (p.Asp740Asn) | |
| 4 | g.159341613G>C | CA358591091 | RAPGEF2 | c.2101G>C (p.Asp701His) c.2584G>C (p.Asp862His) c.2566G>C (p.Asp856His) c.2230G>C (p.Asp744His) c.2236G>C (p.Asp746His) c.2248G>C (p.Asp750His) c.2218G>C (p.Asp740His) | |
| 4 | g.159341613G>T | CA358591092 | RAPGEF2 | c.2101G>T (p.Asp701Tyr) c.2584G>T (p.Asp862Tyr) c.2566G>T (p.Asp856Tyr) c.2230G>T (p.Asp744Tyr) c.2236G>T (p.Asp746Tyr) c.2248G>T (p.Asp750Tyr) c.2218G>T (p.Asp740Tyr) | |
| 4 | g.159341614A>C | CA358591093 | RAPGEF2 | c.2102A>C (p.Asp701Ala) c.2585A>C (p.Asp862Ala) c.2567A>C (p.Asp856Ala) c.2231A>C (p.Asp744Ala) c.2237A>C (p.Asp746Ala) c.2249A>C (p.Asp750Ala) c.2219A>C (p.Asp740Ala) | |
| 4 | g.159341614A>G | CA358591094 | RAPGEF2 | c.2102A>G (p.Asp701Gly) c.2585A>G (p.Asp862Gly) c.2567A>G (p.Asp856Gly) c.2231A>G (p.Asp744Gly) c.2237A>G (p.Asp746Gly) c.2249A>G (p.Asp750Gly) c.2219A>G (p.Asp740Gly) | |
| 4 | g.159341614A>T | CA358591095 | RAPGEF2 | c.2102A>T (p.Asp701Val) c.2585A>T (p.Asp862Val) c.2567A>T (p.Asp856Val) c.2231A>T (p.Asp744Val) c.2237A>T (p.Asp746Val) c.2249A>T (p.Asp750Val) c.2219A>T (p.Asp740Val) | |
| 4 | g.159341615T>A | CA358591097 | RAPGEF2 | c.2103T>A (p.Asp701Glu) c.2586T>A (p.Asp862Glu) c.2568T>A (p.Asp856Glu) c.2232T>A (p.Asp744Glu) c.2238T>A (p.Asp746Glu) c.2250T>A (p.Asp750Glu) c.2220T>A (p.Asp740Glu) | |
| 4 | g.159341615T>C | CA442144680 | RAPGEF2 | c.2103T>C (p.Asp701=) c.2586T>C (p.Asp862=) c.2568T>C (p.Asp856=) c.2232T>C (p.Asp744=) c.2238T>C (p.Asp746=) c.2250T>C (p.Asp750=) c.2220T>C (p.Asp740=) | dbSNP |
| 4 | g.159341615T>G | CA358591096 | RAPGEF2 | c.2103T>G (p.Asp701Glu) c.2586T>G (p.Asp862Glu) c.2568T>G (p.Asp856Glu) c.2232T>G (p.Asp744Glu) c.2238T>G (p.Asp746Glu) c.2250T>G (p.Asp750Glu) c.2220T>G (p.Asp740Glu) | |
| 4 | g.159341615T= | CA1507167704 | RAPGEF2 | c.2103T= (p.Asp701=) c.2586T= (p.Asp862=) c.2568T= (p.Asp856=) c.2232T= (p.Asp744=) c.2238T= (p.Asp746=) c.2250T= (p.Asp750=) c.2220T= (p.Asp740=) | |
| 4 | g.159341616G>A | CA358591098 | RAPGEF2 | c.2104G>A (p.Ala702Thr) c.2587G>A (p.Ala863Thr) c.2569G>A (p.Ala857Thr) c.2233G>A (p.Ala745Thr) c.2239G>A (p.Ala747Thr) c.2251G>A (p.Ala751Thr) c.2221G>A (p.Ala741Thr) | |
| 4 | g.159341616G>C | CA358591099 | RAPGEF2 | c.2104G>C (p.Ala702Pro) c.2587G>C (p.Ala863Pro) c.2569G>C (p.Ala857Pro) c.2233G>C (p.Ala745Pro) c.2239G>C (p.Ala747Pro) c.2251G>C (p.Ala751Pro) c.2221G>C (p.Ala741Pro) | |
| 4 | g.159341616G= | CA1507167705 | RAPGEF2 | c.2104G= (p.Ala702=) c.2587G= (p.Ala863=) c.2569G= (p.Ala857=) c.2233G= (p.Ala745=) c.2239G= (p.Ala747=) c.2251G= (p.Ala751=) c.2221G= (p.Ala741=) | |
| 4 | g.159341616G>T | CA358591100 | RAPGEF2 | c.2104G>T (p.Ala702Ser) c.2587G>T (p.Ala863Ser) c.2569G>T (p.Ala857Ser) c.2233G>T (p.Ala745Ser) c.2239G>T (p.Ala747Ser) c.2251G>T (p.Ala751Ser) c.2221G>T (p.Ala741Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341617C>A | CA3124790 | RAPGEF2 | c.2105C>A (p.Ala702Asp) c.2588C>A (p.Ala863Asp) c.2570C>A (p.Ala857Asp) c.2234C>A (p.Ala745Asp) c.2240C>A (p.Ala747Asp) c.2252C>A (p.Ala751Asp) c.2222C>A (p.Ala741Asp) | dbSNP ExAC |
| 4 | g.159341617C= | CA1507167706 | RAPGEF2 | c.2105C= (p.Ala702=) c.2588C= (p.Ala863=) c.2570C= (p.Ala857=) c.2234C= (p.Ala745=) c.2240C= (p.Ala747=) c.2252C= (p.Ala751=) c.2222C= (p.Ala741=) | |
| 4 | g.159341617C>G | CA3124789 | RAPGEF2 | c.2105C>G (p.Ala702Gly) c.2588C>G (p.Ala863Gly) c.2570C>G (p.Ala857Gly) c.2234C>G (p.Ala745Gly) c.2240C>G (p.Ala747Gly) c.2252C>G (p.Ala751Gly) c.2222C>G (p.Ala741Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341617C>T | CA358591101 | RAPGEF2 | c.2105C>T (p.Ala702Val) c.2588C>T (p.Ala863Val) c.2570C>T (p.Ala857Val) c.2234C>T (p.Ala745Val) c.2240C>T (p.Ala747Val) c.2252C>T (p.Ala751Val) c.2222C>T (p.Ala741Val) | |
| 4 | g.159341618T>A | CA442144681 | RAPGEF2 | c.2106T>A (p.Ala702=) c.2589T>A (p.Ala863=) c.2571T>A (p.Ala857=) c.2235T>A (p.Ala745=) c.2241T>A (p.Ala747=) c.2253T>A (p.Ala751=) c.2223T>A (p.Ala741=) | |
| 4 | g.159341618T>C | CA442144682 | RAPGEF2 | c.2106T>C (p.Ala702=) c.2589T>C (p.Ala863=) c.2571T>C (p.Ala857=) c.2235T>C (p.Ala745=) c.2241T>C (p.Ala747=) c.2253T>C (p.Ala751=) c.2223T>C (p.Ala741=) | |
| 4 | g.159341618T>G | CA442144683 | RAPGEF2 | c.2106T>G (p.Ala702=) c.2589T>G (p.Ala863=) c.2571T>G (p.Ala857=) c.2235T>G (p.Ala745=) c.2241T>G (p.Ala747=) c.2253T>G (p.Ala751=) c.2223T>G (p.Ala741=) | |
| 4 | g.159341619C>A | CA358591104 | RAPGEF2 | c.2107C>A (p.Gln703Lys) c.2590C>A (p.Gln864Lys) c.2572C>A (p.Gln858Lys) c.2236C>A (p.Gln746Lys) c.2242C>A (p.Gln748Lys) c.2254C>A (p.Gln752Lys) c.2224C>A (p.Gln742Lys) | gnomAD v4 |
| 4 | g.159341619C>G | CA358591102 | RAPGEF2 | c.2107C>G (p.Gln703Glu) c.2590C>G (p.Gln864Glu) c.2572C>G (p.Gln858Glu) c.2236C>G (p.Gln746Glu) c.2242C>G (p.Gln748Glu) c.2254C>G (p.Gln752Glu) c.2224C>G (p.Gln742Glu) | |
| 4 | g.159341619C>T | CA358591103 | RAPGEF2 | c.2107C>T (p.Gln703Ter) c.2590C>T (p.Gln864Ter) c.2572C>T (p.Gln858Ter) c.2236C>T (p.Gln746Ter) c.2242C>T (p.Gln748Ter) c.2254C>T (p.Gln752Ter) c.2224C>T (p.Gln742Ter) | |
| 4 | g.159341620A= | CA1507167707 | RAPGEF2 | c.2108A= (p.Gln703=) c.2591A= (p.Gln864=) c.2573A= (p.Gln858=) c.2237A= (p.Gln746=) c.2243A= (p.Gln748=) c.2255A= (p.Gln752=) c.2225A= (p.Gln742=) | |
| 4 | g.159341620A>C | CA358591105 | RAPGEF2 | c.2108A>C (p.Gln703Pro) c.2591A>C (p.Gln864Pro) c.2573A>C (p.Gln858Pro) c.2237A>C (p.Gln746Pro) c.2243A>C (p.Gln748Pro) c.2255A>C (p.Gln752Pro) c.2225A>C (p.Gln742Pro) | |
| 4 | g.159341620A>G | CA108901825 | RAPGEF2 | c.2108A>G (p.Gln703Arg) c.2591A>G (p.Gln864Arg) c.2573A>G (p.Gln858Arg) c.2237A>G (p.Gln746Arg) c.2243A>G (p.Gln748Arg) c.2255A>G (p.Gln752Arg) c.2225A>G (p.Gln742Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341620A>T | CA358591106 | RAPGEF2 | c.2108A>T (p.Gln703Leu) c.2591A>T (p.Gln864Leu) c.2573A>T (p.Gln858Leu) c.2237A>T (p.Gln746Leu) c.2243A>T (p.Gln748Leu) c.2255A>T (p.Gln752Leu) c.2225A>T (p.Gln742Leu) | |
| 4 | g.159341621G>A | CA442144684 | RAPGEF2 | c.2109G>A (p.Gln703=) c.2592G>A (p.Gln864=) c.2574G>A (p.Gln858=) c.2238G>A (p.Gln746=) c.2244G>A (p.Gln748=) c.2256G>A (p.Gln752=) c.2226G>A (p.Gln742=) | gnomAD v4 |
| 4 | g.159341621G>C | CA358591107 | RAPGEF2 | c.2109G>C (p.Gln703His) c.2592G>C (p.Gln864His) c.2574G>C (p.Gln858His) c.2238G>C (p.Gln746His) c.2244G>C (p.Gln748His) c.2256G>C (p.Gln752His) c.2226G>C (p.Gln742His) | |
| 4 | g.159341621G>T | CA358591108 | RAPGEF2 | c.2109G>T (p.Gln703His) c.2592G>T (p.Gln864His) c.2574G>T (p.Gln858His) c.2238G>T (p.Gln746His) c.2244G>T (p.Gln748His) c.2256G>T (p.Gln752His) c.2226G>T (p.Gln742His) | |
| 4 | g.159341622G>A | CA358591109 | RAPGEF2 | c.2110G>A (p.Glu704Lys) c.2593G>A (p.Glu865Lys) c.2575G>A (p.Glu859Lys) c.2239G>A (p.Glu747Lys) c.2245G>A (p.Glu749Lys) c.2257G>A (p.Glu753Lys) c.2227G>A (p.Glu743Lys) | |
| 4 | g.159341622G>C | CA358591111 | RAPGEF2 | c.2110G>C (p.Glu704Gln) c.2593G>C (p.Glu865Gln) c.2575G>C (p.Glu859Gln) c.2239G>C (p.Glu747Gln) c.2245G>C (p.Glu749Gln) c.2257G>C (p.Glu753Gln) c.2227G>C (p.Glu743Gln) | |
| 4 | g.159341622G>T | CA358591110 | RAPGEF2 | c.2110G>T (p.Glu704Ter) c.2593G>T (p.Glu865Ter) c.2575G>T (p.Glu859Ter) c.2239G>T (p.Glu747Ter) c.2245G>T (p.Glu749Ter) c.2257G>T (p.Glu753Ter) c.2227G>T (p.Glu743Ter) | |
| 4 | g.159341623A>C | CA358591112 | RAPGEF2 | c.2111A>C (p.Glu704Ala) c.2594A>C (p.Glu865Ala) c.2576A>C (p.Glu859Ala) c.2240A>C (p.Glu747Ala) c.2246A>C (p.Glu749Ala) c.2258A>C (p.Glu753Ala) c.2228A>C (p.Glu743Ala) | |
| 4 | g.159341623A>G | CA358591113 | RAPGEF2 | c.2111A>G (p.Glu704Gly) c.2594A>G (p.Glu865Gly) c.2576A>G (p.Glu859Gly) c.2240A>G (p.Glu747Gly) c.2246A>G (p.Glu749Gly) c.2258A>G (p.Glu753Gly) c.2228A>G (p.Glu743Gly) | |
| 4 | g.159341623A>T | CA358591114 | RAPGEF2 | c.2111A>T (p.Glu704Val) c.2594A>T (p.Glu865Val) c.2576A>T (p.Glu859Val) c.2240A>T (p.Glu747Val) c.2246A>T (p.Glu749Val) c.2258A>T (p.Glu753Val) c.2228A>T (p.Glu743Val) | |
| 4 | g.159341624G>A | CA442144685 | RAPGEF2 | c.2112G>A (p.Glu704=) c.2595G>A (p.Glu865=) c.2577G>A (p.Glu859=) c.2241G>A (p.Glu747=) c.2247G>A (p.Glu749=) c.2259G>A (p.Glu753=) c.2229G>A (p.Glu743=) | gnomAD v3 gnomAD v4 |
| 4 | g.159341624G>C | CA358591115 | RAPGEF2 | c.2112G>C (p.Glu704Asp) c.2595G>C (p.Glu865Asp) c.2577G>C (p.Glu859Asp) c.2241G>C (p.Glu747Asp) c.2247G>C (p.Glu749Asp) c.2259G>C (p.Glu753Asp) c.2229G>C (p.Glu743Asp) | |
| 4 | g.159341624G>T | CA358591116 | RAPGEF2 | c.2112G>T (p.Glu704Asp) c.2595G>T (p.Glu865Asp) c.2577G>T (p.Glu859Asp) c.2241G>T (p.Glu747Asp) c.2247G>T (p.Glu749Asp) c.2259G>T (p.Glu753Asp) c.2229G>T (p.Glu743Asp) | |
| 4 | g.159341628_159341630del | CA2672534889 | RAPGEF2 | c.2116_2118del (p.Leu706del) c.2599_2601del (p.Leu867del) c.2581_2583del (p.Leu861del) c.2245_2247del (p.Leu749del) c.2251_2253del (p.Leu751del) c.2263_2265del (p.Leu755del) c.2233_2235del (p.Leu745del) | gnomAD v4 |
| 4 | g.159341625T>A | CA358591117 | RAPGEF2 | c.2113T>A (p.Leu705Met) c.2596T>A (p.Leu866Met) c.2578T>A (p.Leu860Met) c.2242T>A (p.Leu748Met) c.2248T>A (p.Leu750Met) c.2260T>A (p.Leu754Met) c.2230T>A (p.Leu744Met) | |
| 4 | g.159341625T>C | CA442144686 | RAPGEF2 | c.2113T>C (p.Leu705=) c.2596T>C (p.Leu866=) c.2578T>C (p.Leu860=) c.2242T>C (p.Leu748=) c.2248T>C (p.Leu750=) c.2260T>C (p.Leu754=) c.2230T>C (p.Leu744=) | |
| 4 | g.159341625T>G | CA358591118 | RAPGEF2 | c.2113T>G (p.Leu705Val) c.2596T>G (p.Leu866Val) c.2578T>G (p.Leu860Val) c.2242T>G (p.Leu748Val) c.2248T>G (p.Leu750Val) c.2260T>G (p.Leu754Val) c.2230T>G (p.Leu744Val) | |
| 4 | g.159341626T>A | CA358591119 | RAPGEF2 | c.2114T>A (p.Leu705Ter) c.2597T>A (p.Leu866Ter) c.2579T>A (p.Leu860Ter) c.2243T>A (p.Leu748Ter) c.2249T>A (p.Leu750Ter) c.2261T>A (p.Leu754Ter) c.2231T>A (p.Leu744Ter) | |
| 4 | g.159341626T>C | CA358591120 | RAPGEF2 | c.2114T>C (p.Leu705Ser) c.2597T>C (p.Leu866Ser) c.2579T>C (p.Leu860Ser) c.2243T>C (p.Leu748Ser) c.2249T>C (p.Leu750Ser) c.2261T>C (p.Leu754Ser) c.2231T>C (p.Leu744Ser) | |
| 4 | g.159341626T>G | CA358591121 | RAPGEF2 | c.2114T>G (p.Leu705Trp) c.2597T>G (p.Leu866Trp) c.2579T>G (p.Leu860Trp) c.2243T>G (p.Leu748Trp) c.2249T>G (p.Leu750Trp) c.2261T>G (p.Leu754Trp) c.2231T>G (p.Leu744Trp) | |
| 4 | g.159341627G>A | CA442144687 | RAPGEF2 | c.2115G>A (p.Leu705=) c.2598G>A (p.Leu866=) c.2580G>A (p.Leu860=) c.2244G>A (p.Leu748=) c.2250G>A (p.Leu750=) c.2262G>A (p.Leu754=) c.2232G>A (p.Leu744=) | |
| 4 | g.159341627G>C | CA358591122 | RAPGEF2 | c.2115G>C (p.Leu705Phe) c.2598G>C (p.Leu866Phe) c.2580G>C (p.Leu860Phe) c.2244G>C (p.Leu748Phe) c.2250G>C (p.Leu750Phe) c.2262G>C (p.Leu754Phe) c.2232G>C (p.Leu744Phe) | |
| 4 | g.159341627G>T | CA358591123 | RAPGEF2 | c.2115G>T (p.Leu705Phe) c.2598G>T (p.Leu866Phe) c.2580G>T (p.Leu860Phe) c.2244G>T (p.Leu748Phe) c.2250G>T (p.Leu750Phe) c.2262G>T (p.Leu754Phe) c.2232G>T (p.Leu744Phe) | |
| 4 | g.159341628T>A | CA358591125 | RAPGEF2 | c.2116T>A (p.Leu706Met) c.2599T>A (p.Leu867Met) c.2581T>A (p.Leu861Met) c.2245T>A (p.Leu749Met) c.2251T>A (p.Leu751Met) c.2263T>A (p.Leu755Met) c.2233T>A (p.Leu745Met) | |
| 4 | g.159341628T>C | CA3124791 | RAPGEF2 | c.2116T>C (p.Leu706=) c.2599T>C (p.Leu867=) c.2581T>C (p.Leu861=) c.2245T>C (p.Leu749=) c.2251T>C (p.Leu751=) c.2263T>C (p.Leu755=) c.2233T>C (p.Leu745=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341628T>G | CA358591124 | RAPGEF2 | c.2116T>G (p.Leu706Val) c.2599T>G (p.Leu867Val) c.2581T>G (p.Leu861Val) c.2245T>G (p.Leu749Val) c.2251T>G (p.Leu751Val) c.2263T>G (p.Leu755Val) c.2233T>G (p.Leu745Val) | |
| 4 | g.159341628T= | CA1507167708 | RAPGEF2 | c.2116T= (p.Leu706=) c.2599T= (p.Leu867=) c.2581T= (p.Leu861=) c.2245T= (p.Leu749=) c.2251T= (p.Leu751=) c.2263T= (p.Leu755=) c.2233T= (p.Leu745=) | |
| 4 | g.159341629T>A | CA358591126 | RAPGEF2 | c.2117T>A (p.Leu706Ter) c.2600T>A (p.Leu867Ter) c.2582T>A (p.Leu861Ter) c.2246T>A (p.Leu749Ter) c.2252T>A (p.Leu751Ter) c.2264T>A (p.Leu755Ter) c.2234T>A (p.Leu745Ter) | |
| 4 | g.159341629T>C | CA358591127 | RAPGEF2 | c.2117T>C (p.Leu706Ser) c.2600T>C (p.Leu867Ser) c.2582T>C (p.Leu861Ser) c.2246T>C (p.Leu749Ser) c.2252T>C (p.Leu751Ser) c.2264T>C (p.Leu755Ser) c.2234T>C (p.Leu745Ser) | |
| 4 | g.159341629T>G | CA358591128 | RAPGEF2 | c.2117T>G (p.Leu706Trp) c.2600T>G (p.Leu867Trp) c.2582T>G (p.Leu861Trp) c.2246T>G (p.Leu749Trp) c.2252T>G (p.Leu751Trp) c.2264T>G (p.Leu755Trp) c.2234T>G (p.Leu745Trp) | gnomAD v4 |
| 4 | g.159341630G>A | CA442144688 | RAPGEF2 | c.2118G>A (p.Leu706=) c.2601G>A (p.Leu867=) c.2583G>A (p.Leu861=) c.2247G>A (p.Leu749=) c.2253G>A (p.Leu751=) c.2265G>A (p.Leu755=) c.2235G>A (p.Leu745=) | |
| 4 | g.159341630G>C | CA358591129 | RAPGEF2 | c.2118G>C (p.Leu706Phe) c.2601G>C (p.Leu867Phe) c.2583G>C (p.Leu861Phe) c.2247G>C (p.Leu749Phe) c.2253G>C (p.Leu751Phe) c.2265G>C (p.Leu755Phe) c.2235G>C (p.Leu745Phe) | |
| 4 | g.159341630G>T | CA358591130 | RAPGEF2 | c.2118G>T (p.Leu706Phe) c.2601G>T (p.Leu867Phe) c.2583G>T (p.Leu861Phe) c.2247G>T (p.Leu749Phe) c.2253G>T (p.Leu751Phe) c.2265G>T (p.Leu755Phe) c.2235G>T (p.Leu745Phe) | gnomAD v4 |
| 4 | g.159341637_159341638del | CA2672534896 | RAPGEF2 | c.2125_2126del (p.Gln710AsnfsTer21) c.2608_2609del (p.Gln871AsnfsTer21) c.2590_2591del (p.Gln865AsnfsTer21) c.2254_2255del (p.Gln753AsnfsTer21) c.2260_2261del (p.Gln755AsnfsTer21) c.2272_2273del (p.Gln759AsnfsTer21) c.2242_2243del (p.Gln749AsnfsTer21) | gnomAD v4 |
| 4 | g.159341635_159341638del | CA645540200 | RAPGEF2 | c.2123_2126del (p.Glu708ValfsTer?) c.2606_2609del (p.Glu869ValfsTer?) c.2588_2591del (p.Glu863ValfsTer?) c.2252_2255del (p.Glu751ValfsTer?) c.2258_2261del (p.Glu753ValfsTer?) c.2270_2273del (p.Glu757ValfsTer?) c.2240_2243del (p.Glu747ValfsTer?) | gnomAD v4 COSMIC |
| 4 | g.159341631A>C | CA442144689 | RAPGEF2 | c.2119A>C (p.Arg707=) c.2602A>C (p.Arg868=) c.2584A>C (p.Arg862=) c.2248A>C (p.Arg750=) c.2254A>C (p.Arg752=) c.2266A>C (p.Arg756=) c.2236A>C (p.Arg746=) | |
| 4 | g.159341631A>G | CA358591131 | RAPGEF2 | c.2119A>G (p.Arg707Gly) c.2602A>G (p.Arg868Gly) c.2584A>G (p.Arg862Gly) c.2248A>G (p.Arg750Gly) c.2254A>G (p.Arg752Gly) c.2266A>G (p.Arg756Gly) c.2236A>G (p.Arg746Gly) | |
| 4 | g.159341631A>T | CA358591132 | RAPGEF2 | c.2119A>T (p.Arg707Ter) c.2602A>T (p.Arg868Ter) c.2584A>T (p.Arg862Ter) c.2248A>T (p.Arg750Ter) c.2254A>T (p.Arg752Ter) c.2266A>T (p.Arg756Ter) c.2236A>T (p.Arg746Ter) | |
| 4 | g.159341632G>A | CA358591133 | RAPGEF2 | c.2120G>A (p.Arg707Lys) c.2603G>A (p.Arg868Lys) c.2585G>A (p.Arg862Lys) c.2249G>A (p.Arg750Lys) c.2255G>A (p.Arg752Lys) c.2267G>A (p.Arg756Lys) c.2237G>A (p.Arg746Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341632G>C | CA358591134 | RAPGEF2 | c.2120G>C (p.Arg707Thr) c.2603G>C (p.Arg868Thr) c.2585G>C (p.Arg862Thr) c.2249G>C (p.Arg750Thr) c.2255G>C (p.Arg752Thr) c.2267G>C (p.Arg756Thr) c.2237G>C (p.Arg746Thr) | |
| 4 | g.159341632G= | CA1507167709 | RAPGEF2 | c.2120G= (p.Arg707=) c.2603G= (p.Arg868=) c.2585G= (p.Arg862=) c.2249G= (p.Arg750=) c.2255G= (p.Arg752=) c.2267G= (p.Arg756=) c.2237G= (p.Arg746=) | |
| 4 | g.159341632G>T | CA358591135 | RAPGEF2 | c.2120G>T (p.Arg707Ile) c.2603G>T (p.Arg868Ile) c.2585G>T (p.Arg862Ile) c.2249G>T (p.Arg750Ile) c.2255G>T (p.Arg752Ile) c.2267G>T (p.Arg756Ile) c.2237G>T (p.Arg746Ile) | |
| 4 | g.159341633A= | CA1507167710 | RAPGEF2 | c.2121A= (p.Arg707=) c.2604A= (p.Arg868=) c.2586A= (p.Arg862=) c.2250A= (p.Arg750=) c.2256A= (p.Arg752=) c.2268A= (p.Arg756=) c.2238A= (p.Arg746=) | |
| 4 | g.159341633A>C | CA358591136 | RAPGEF2 | c.2121A>C (p.Arg707Ser) c.2604A>C (p.Arg868Ser) c.2586A>C (p.Arg862Ser) c.2250A>C (p.Arg750Ser) c.2256A>C (p.Arg752Ser) c.2268A>C (p.Arg756Ser) c.2238A>C (p.Arg746Ser) | |
| 4 | g.159341633A>G | CA108901834 | RAPGEF2 | c.2121A>G (p.Arg707=) c.2604A>G (p.Arg868=) c.2586A>G (p.Arg862=) c.2250A>G (p.Arg750=) c.2256A>G (p.Arg752=) c.2268A>G (p.Arg756=) c.2238A>G (p.Arg746=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.159341633A>T | CA358591137 | RAPGEF2 | c.2121A>T (p.Arg707Ser) c.2604A>T (p.Arg868Ser) c.2586A>T (p.Arg862Ser) c.2250A>T (p.Arg750Ser) c.2256A>T (p.Arg752Ser) c.2268A>T (p.Arg756Ser) c.2238A>T (p.Arg746Ser) | |
| 4 | g.159341634G>A | CA358591138 | RAPGEF2 | c.2122G>A (p.Glu708Lys) c.2605G>A (p.Glu869Lys) c.2587G>A (p.Glu863Lys) c.2251G>A (p.Glu751Lys) c.2257G>A (p.Glu753Lys) c.2269G>A (p.Glu757Lys) c.2239G>A (p.Glu747Lys) | |
| 4 | g.159341634G>C | CA358591140 | RAPGEF2 | c.2122G>C (p.Glu708Gln) c.2605G>C (p.Glu869Gln) c.2587G>C (p.Glu863Gln) c.2251G>C (p.Glu751Gln) c.2257G>C (p.Glu753Gln) c.2269G>C (p.Glu757Gln) c.2239G>C (p.Glu747Gln) | |
| 4 | g.159341634G>T | CA358591139 | RAPGEF2 | c.2122G>T (p.Glu708Ter) c.2605G>T (p.Glu869Ter) c.2587G>T (p.Glu863Ter) c.2251G>T (p.Glu751Ter) c.2257G>T (p.Glu753Ter) c.2269G>T (p.Glu757Ter) c.2239G>T (p.Glu747Ter) | |
| 4 | g.159341635A>C | CA358591141 | RAPGEF2 | c.2123A>C (p.Glu708Ala) c.2606A>C (p.Glu869Ala) c.2588A>C (p.Glu863Ala) c.2252A>C (p.Glu751Ala) c.2258A>C (p.Glu753Ala) c.2270A>C (p.Glu757Ala) c.2240A>C (p.Glu747Ala) | |
| 4 | g.159341635A>G | CA358591143 | RAPGEF2 | c.2123A>G (p.Glu708Gly) c.2606A>G (p.Glu869Gly) c.2588A>G (p.Glu863Gly) c.2252A>G (p.Glu751Gly) c.2258A>G (p.Glu753Gly) c.2270A>G (p.Glu757Gly) c.2240A>G (p.Glu747Gly) | |
| 4 | g.159341635A>T | CA358591142 | RAPGEF2 | c.2123A>T (p.Glu708Val) c.2606A>T (p.Glu869Val) c.2588A>T (p.Glu863Val) c.2252A>T (p.Glu751Val) c.2258A>T (p.Glu753Val) c.2270A>T (p.Glu757Val) c.2240A>T (p.Glu747Val) | |
| 4 | g.159341636G>A | CA442144690 | RAPGEF2 | c.2124G>A (p.Glu708=) c.2607G>A (p.Glu869=) c.2589G>A (p.Glu863=) c.2253G>A (p.Glu751=) c.2259G>A (p.Glu753=) c.2271G>A (p.Glu757=) c.2241G>A (p.Glu747=) | |
| 4 | g.159341636G>C | CA3124792 | RAPGEF2 | c.2124G>C (p.Glu708Asp) c.2607G>C (p.Glu869Asp) c.2589G>C (p.Glu863Asp) c.2253G>C (p.Glu751Asp) c.2259G>C (p.Glu753Asp) c.2271G>C (p.Glu757Asp) c.2241G>C (p.Glu747Asp) | dbSNP ExAC gnomAD v2 |
| 4 | g.159341636G= | CA1507167711 | RAPGEF2 | c.2124G= (p.Glu708=) c.2607G= (p.Glu869=) c.2589G= (p.Glu863=) c.2253G= (p.Glu751=) c.2259G= (p.Glu753=) c.2271G= (p.Glu757=) c.2241G= (p.Glu747=) | |
| 4 | g.159341636G>T | CA358591144 | RAPGEF2 | c.2124G>T (p.Glu708Asp) c.2607G>T (p.Glu869Asp) c.2589G>T (p.Glu863Asp) c.2253G>T (p.Glu751Asp) c.2259G>T (p.Glu753Asp) c.2271G>T (p.Glu757Asp) c.2241G>T (p.Glu747Asp) | |
| 4 | g.159341637A>C | CA358591145 | RAPGEF2 | c.2125A>C (p.Ser709Arg) c.2608A>C (p.Ser870Arg) c.2590A>C (p.Ser864Arg) c.2254A>C (p.Ser752Arg) c.2260A>C (p.Ser754Arg) c.2272A>C (p.Ser758Arg) c.2242A>C (p.Ser748Arg) | |
| 4 | g.159341637A>G | CA358591147 | RAPGEF2 | c.2125A>G (p.Ser709Gly) c.2608A>G (p.Ser870Gly) c.2590A>G (p.Ser864Gly) c.2254A>G (p.Ser752Gly) c.2260A>G (p.Ser754Gly) c.2272A>G (p.Ser758Gly) c.2242A>G (p.Ser748Gly) | |
| 4 | g.159341637A>T | CA358591146 | RAPGEF2 | c.2125A>T (p.Ser709Cys) c.2608A>T (p.Ser870Cys) c.2590A>T (p.Ser864Cys) c.2254A>T (p.Ser752Cys) c.2260A>T (p.Ser754Cys) c.2272A>T (p.Ser758Cys) c.2242A>T (p.Ser748Cys) | |
| 4 | g.159341638G>A | CA358591148 | RAPGEF2 | c.2126G>A (p.Ser709Asn) c.2609G>A (p.Ser870Asn) c.2591G>A (p.Ser864Asn) c.2255G>A (p.Ser752Asn) c.2261G>A (p.Ser754Asn) c.2273G>A (p.Ser758Asn) c.2243G>A (p.Ser748Asn) | gnomAD v4 |
| 4 | g.159341638G>C | CA358591149 | RAPGEF2 | c.2126G>C (p.Ser709Thr) c.2609G>C (p.Ser870Thr) c.2591G>C (p.Ser864Thr) c.2255G>C (p.Ser752Thr) c.2261G>C (p.Ser754Thr) c.2273G>C (p.Ser758Thr) c.2243G>C (p.Ser748Thr) | |
| 4 | g.159341638G>T | CA358591150 | RAPGEF2 | c.2126G>T (p.Ser709Ile) c.2609G>T (p.Ser870Ile) c.2591G>T (p.Ser864Ile) c.2255G>T (p.Ser752Ile) c.2261G>T (p.Ser754Ile) c.2273G>T (p.Ser758Ile) c.2243G>T (p.Ser748Ile) | |
| 4 | g.159341639T>A | CA358591151 | RAPGEF2 | c.2127T>A (p.Ser709Arg) c.2610T>A (p.Ser870Arg) c.2592T>A (p.Ser864Arg) c.2256T>A (p.Ser752Arg) c.2262T>A (p.Ser754Arg) c.2274T>A (p.Ser758Arg) c.2244T>A (p.Ser748Arg) | |
| 4 | g.159341639T>C | CA442144691 | RAPGEF2 | c.2127T>C (p.Ser709=) c.2610T>C (p.Ser870=) c.2592T>C (p.Ser864=) c.2256T>C (p.Ser752=) c.2262T>C (p.Ser754=) c.2274T>C (p.Ser758=) c.2244T>C (p.Ser748=) | |
| 4 | g.159341639T>G | CA358591152 | RAPGEF2 | c.2127T>G (p.Ser709Arg) c.2610T>G (p.Ser870Arg) c.2592T>G (p.Ser864Arg) c.2256T>G (p.Ser752Arg) c.2262T>G (p.Ser754Arg) c.2274T>G (p.Ser758Arg) c.2244T>G (p.Ser748Arg) | |
| 4 | g.159341640C>A | CA358591153 | RAPGEF2 | c.2128C>A (p.Gln710Lys) c.2611C>A (p.Gln871Lys) c.2593C>A (p.Gln865Lys) c.2257C>A (p.Gln753Lys) c.2263C>A (p.Gln755Lys) c.2275C>A (p.Gln759Lys) c.2245C>A (p.Gln749Lys) | |
| 4 | g.159341640C>G | CA358591154 | RAPGEF2 | c.2128C>G (p.Gln710Glu) c.2611C>G (p.Gln871Glu) c.2593C>G (p.Gln865Glu) c.2257C>G (p.Gln753Glu) c.2263C>G (p.Gln755Glu) c.2275C>G (p.Gln759Glu) c.2245C>G (p.Gln749Glu) | |
| 4 | g.159341640C>T | CA358591155 | RAPGEF2 | c.2128C>T (p.Gln710Ter) c.2611C>T (p.Gln871Ter) c.2593C>T (p.Gln865Ter) c.2257C>T (p.Gln753Ter) c.2263C>T (p.Gln755Ter) c.2275C>T (p.Gln759Ter) c.2245C>T (p.Gln749Ter) | |
| 4 | g.159341641A>C | CA358591156 | RAPGEF2 | c.2129A>C (p.Gln710Pro) c.2612A>C (p.Gln871Pro) c.2594A>C (p.Gln865Pro) c.2258A>C (p.Gln753Pro) c.2264A>C (p.Gln755Pro) c.2276A>C (p.Gln759Pro) c.2246A>C (p.Gln749Pro) | |
| 4 | g.159341641A>G | CA358591157 | RAPGEF2 | c.2129A>G (p.Gln710Arg) c.2612A>G (p.Gln871Arg) c.2594A>G (p.Gln865Arg) c.2258A>G (p.Gln753Arg) c.2264A>G (p.Gln755Arg) c.2276A>G (p.Gln759Arg) c.2246A>G (p.Gln749Arg) | |
| 4 | g.159341641A>T | CA358591158 | RAPGEF2 | c.2129A>T (p.Gln710Leu) c.2612A>T (p.Gln871Leu) c.2594A>T (p.Gln865Leu) c.2258A>T (p.Gln753Leu) c.2264A>T (p.Gln755Leu) c.2276A>T (p.Gln759Leu) c.2246A>T (p.Gln749Leu) | |
| 4 | g.159341642A= | CA1507167712 | RAPGEF2 | c.2130A= (p.Gln710=) c.2613A= (p.Gln871=) c.2595A= (p.Gln865=) c.2259A= (p.Gln753=) c.2265A= (p.Gln755=) c.2277A= (p.Gln759=) c.2247A= (p.Gln749=) | |
| 4 | g.159341642A>C | CA358591159 | RAPGEF2 | c.2130A>C (p.Gln710His) c.2613A>C (p.Gln871His) c.2595A>C (p.Gln865His) c.2259A>C (p.Gln753His) c.2265A>C (p.Gln755His) c.2277A>C (p.Gln759His) c.2247A>C (p.Gln749His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341642A>G | CA442144692 | RAPGEF2 | c.2130A>G (p.Gln710=) c.2613A>G (p.Gln871=) c.2595A>G (p.Gln865=) c.2259A>G (p.Gln753=) c.2265A>G (p.Gln755=) c.2277A>G (p.Gln759=) c.2247A>G (p.Gln749=) | gnomAD v4 |
| 4 | g.159341642A>T | CA358591160 | RAPGEF2 | c.2130A>T (p.Gln710His) c.2613A>T (p.Gln871His) c.2595A>T (p.Gln865His) c.2259A>T (p.Gln753His) c.2265A>T (p.Gln755His) c.2277A>T (p.Gln759His) c.2247A>T (p.Gln749His) | gnomAD v4 |
| 4 | g.159341643A>C | CA358591163 | RAPGEF2 | c.2131A>C (p.Ile711Leu) c.2614A>C (p.Ile872Leu) c.2596A>C (p.Ile866Leu) c.2260A>C (p.Ile754Leu) c.2266A>C (p.Ile756Leu) c.2278A>C (p.Ile760Leu) c.2248A>C (p.Ile750Leu) | |
| 4 | g.159341643A>G | CA358591162 | RAPGEF2 | c.2131A>G (p.Ile711Val) c.2614A>G (p.Ile872Val) c.2596A>G (p.Ile866Val) c.2260A>G (p.Ile754Val) c.2266A>G (p.Ile756Val) c.2278A>G (p.Ile760Val) c.2248A>G (p.Ile750Val) | |
| 4 | g.159341643A>T | CA358591161 | RAPGEF2 | c.2131A>T (p.Ile711Phe) c.2614A>T (p.Ile872Phe) c.2596A>T (p.Ile866Phe) c.2260A>T (p.Ile754Phe) c.2266A>T (p.Ile756Phe) c.2278A>T (p.Ile760Phe) c.2248A>T (p.Ile750Phe) | |
| 4 | g.159341644T>A | CA358591164 | RAPGEF2 | c.2132T>A (p.Ile711Asn) c.2615T>A (p.Ile872Asn) c.2597T>A (p.Ile866Asn) c.2261T>A (p.Ile754Asn) c.2267T>A (p.Ile756Asn) c.2279T>A (p.Ile760Asn) c.2249T>A (p.Ile750Asn) | |
| 4 | g.159341644T>C | CA358591165 | RAPGEF2 | c.2132T>C (p.Ile711Thr) c.2615T>C (p.Ile872Thr) c.2597T>C (p.Ile866Thr) c.2261T>C (p.Ile754Thr) c.2267T>C (p.Ile756Thr) c.2279T>C (p.Ile760Thr) c.2249T>C (p.Ile750Thr) | gnomAD v4 |
| 4 | g.159341644T>G | CA358591166 | RAPGEF2 | c.2132T>G (p.Ile711Ser) c.2615T>G (p.Ile872Ser) c.2597T>G (p.Ile866Ser) c.2261T>G (p.Ile754Ser) c.2267T>G (p.Ile756Ser) c.2279T>G (p.Ile760Ser) c.2249T>G (p.Ile750Ser) | |
| 4 | g.159341645T>A | CA442144693 | RAPGEF2 | c.2133T>A (p.Ile711=) c.2616T>A (p.Ile872=) c.2598T>A (p.Ile866=) c.2262T>A (p.Ile754=) c.2268T>A (p.Ile756=) c.2280T>A (p.Ile760=) c.2250T>A (p.Ile750=) | |
| 4 | g.159341645T>C | CA442144694 | RAPGEF2 | c.2133T>C (p.Ile711=) c.2616T>C (p.Ile872=) c.2598T>C (p.Ile866=) c.2262T>C (p.Ile754=) c.2268T>C (p.Ile756=) c.2280T>C (p.Ile760=) c.2250T>C (p.Ile750=) | |
| 4 | g.159341645T>G | CA358591167 | RAPGEF2 | c.2133T>G (p.Ile711Met) c.2616T>G (p.Ile872Met) c.2598T>G (p.Ile866Met) c.2262T>G (p.Ile754Met) c.2268T>G (p.Ile756Met) c.2280T>G (p.Ile760Met) c.2250T>G (p.Ile750Met) | |
| 4 | g.159341646T>A | CA358591168 | RAPGEF2 | c.2134T>A (p.Ser712Thr) c.2617T>A (p.Ser873Thr) c.2599T>A (p.Ser867Thr) c.2263T>A (p.Ser755Thr) c.2269T>A (p.Ser757Thr) c.2281T>A (p.Ser761Thr) c.2251T>A (p.Ser751Thr) | |
| 4 | g.159341646T>C | CA358591169 | RAPGEF2 | c.2134T>C (p.Ser712Pro) c.2617T>C (p.Ser873Pro) c.2599T>C (p.Ser867Pro) c.2263T>C (p.Ser755Pro) c.2269T>C (p.Ser757Pro) c.2281T>C (p.Ser761Pro) c.2251T>C (p.Ser751Pro) | |
| 4 | g.159341646T>G | CA358591170 | RAPGEF2 | c.2134T>G (p.Ser712Ala) c.2617T>G (p.Ser873Ala) c.2599T>G (p.Ser867Ala) c.2263T>G (p.Ser755Ala) c.2269T>G (p.Ser757Ala) c.2281T>G (p.Ser761Ala) c.2251T>G (p.Ser751Ala) | dbSNP |
| 4 | g.159341646T= | CA1507167713 | RAPGEF2 | c.2134T= (p.Ser712=) c.2617T= (p.Ser873=) c.2599T= (p.Ser867=) c.2263T= (p.Ser755=) c.2269T= (p.Ser757=) c.2281T= (p.Ser761=) c.2251T= (p.Ser751=) | |
| 4 | g.159341647C>A | CA358591171 | RAPGEF2 | c.2135C>A (p.Ser712Tyr) c.2618C>A (p.Ser873Tyr) c.2600C>A (p.Ser867Tyr) c.2264C>A (p.Ser755Tyr) c.2270C>A (p.Ser757Tyr) c.2282C>A (p.Ser761Tyr) c.2252C>A (p.Ser751Tyr) | |
| 4 | g.159341647C>G | CA358591172 | RAPGEF2 | c.2135C>G (p.Ser712Cys) c.2618C>G (p.Ser873Cys) c.2600C>G (p.Ser867Cys) c.2264C>G (p.Ser755Cys) c.2270C>G (p.Ser757Cys) c.2282C>G (p.Ser761Cys) c.2252C>G (p.Ser751Cys) | |
| 4 | g.159341647C>T | CA358591173 | RAPGEF2 | c.2135C>T (p.Ser712Phe) c.2618C>T (p.Ser873Phe) c.2600C>T (p.Ser867Phe) c.2264C>T (p.Ser755Phe) c.2270C>T (p.Ser757Phe) c.2282C>T (p.Ser761Phe) c.2252C>T (p.Ser751Phe) | |
| 4 | g.159341648C>A | CA442144695 | RAPGEF2 | c.2136C>A (p.Ser712=) c.2619C>A (p.Ser873=) c.2601C>A (p.Ser867=) c.2265C>A (p.Ser755=) c.2271C>A (p.Ser757=) c.2283C>A (p.Ser761=) c.2253C>A (p.Ser751=) | |
| 4 | g.159341648C>G | CA442144696 | RAPGEF2 | c.2136C>G (p.Ser712=) c.2619C>G (p.Ser873=) c.2601C>G (p.Ser867=) c.2265C>G (p.Ser755=) c.2271C>G (p.Ser757=) c.2283C>G (p.Ser761=) c.2253C>G (p.Ser751=) | |
| 4 | g.159341648C>T | CA442144697 | RAPGEF2 | c.2136C>T (p.Ser712=) c.2619C>T (p.Ser873=) c.2601C>T (p.Ser867=) c.2265C>T (p.Ser755=) c.2271C>T (p.Ser757=) c.2283C>T (p.Ser761=) c.2253C>T (p.Ser751=) | gnomAD v4 |
| 4 | g.159341649C>A | CA358591174 | RAPGEF2 | c.2137C>A (p.Leu713Ile) c.2620C>A (p.Leu874Ile) c.2602C>A (p.Leu868Ile) c.2266C>A (p.Leu756Ile) c.2272C>A (p.Leu758Ile) c.2284C>A (p.Leu762Ile) c.2254C>A (p.Leu752Ile) | |
| 4 | g.159341649C= | CA1507167714 | RAPGEF2 | c.2137C= (p.Leu713=) c.2620C= (p.Leu874=) c.2602C= (p.Leu868=) c.2266C= (p.Leu756=) c.2272C= (p.Leu758=) c.2284C= (p.Leu762=) c.2254C= (p.Leu752=) | |
| 4 | g.159341649C>G | CA358591175 | RAPGEF2 | c.2137C>G (p.Leu713Val) c.2620C>G (p.Leu874Val) c.2602C>G (p.Leu868Val) c.2266C>G (p.Leu756Val) c.2272C>G (p.Leu758Val) c.2284C>G (p.Leu762Val) c.2254C>G (p.Leu752Val) | |
| 4 | g.159341649C>T | CA3124793 | RAPGEF2 | c.2137C>T (p.Leu713Phe) c.2620C>T (p.Leu874Phe) c.2602C>T (p.Leu868Phe) c.2266C>T (p.Leu756Phe) c.2272C>T (p.Leu758Phe) c.2284C>T (p.Leu762Phe) c.2254C>T (p.Leu752Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341650T>A | CA358591177 | RAPGEF2 | c.2138T>A (p.Leu713His) c.2621T>A (p.Leu874His) c.2603T>A (p.Leu868His) c.2267T>A (p.Leu756His) c.2273T>A (p.Leu758His) c.2285T>A (p.Leu762His) c.2255T>A (p.Leu752His) | |
| 4 | g.159341650T>C | CA358591178 | RAPGEF2 | c.2138T>C (p.Leu713Pro) c.2621T>C (p.Leu874Pro) c.2603T>C (p.Leu868Pro) c.2267T>C (p.Leu756Pro) c.2273T>C (p.Leu758Pro) c.2285T>C (p.Leu762Pro) c.2255T>C (p.Leu752Pro) | |
| 4 | g.159341650T>G | CA358591176 | RAPGEF2 | c.2138T>G (p.Leu713Arg) c.2621T>G (p.Leu874Arg) c.2603T>G (p.Leu868Arg) c.2267T>G (p.Leu756Arg) c.2273T>G (p.Leu758Arg) c.2285T>G (p.Leu762Arg) c.2255T>G (p.Leu752Arg) | |
| 4 | g.159341651C>A | CA442144698 | RAPGEF2 | c.2139C>A (p.Leu713=) c.2622C>A (p.Leu874=) c.2604C>A (p.Leu868=) c.2268C>A (p.Leu756=) c.2274C>A (p.Leu758=) c.2286C>A (p.Leu762=) c.2256C>A (p.Leu752=) | |
| 4 | g.159341651C= | CA1507167715 | RAPGEF2 | c.2139C= (p.Leu713=) c.2622C= (p.Leu874=) c.2604C= (p.Leu868=) c.2268C= (p.Leu756=) c.2274C= (p.Leu758=) c.2286C= (p.Leu762=) c.2256C= (p.Leu752=) | |
| 4 | g.159341651C>G | CA442144699 | RAPGEF2 | c.2139C>G (p.Leu713=) c.2622C>G (p.Leu874=) c.2604C>G (p.Leu868=) c.2268C>G (p.Leu756=) c.2274C>G (p.Leu758=) c.2286C>G (p.Leu762=) c.2256C>G (p.Leu752=) | |
| 4 | g.159341651C>T | CA3124794 | RAPGEF2 | c.2139C>T (p.Leu713=) c.2622C>T (p.Leu874=) c.2604C>T (p.Leu868=) c.2268C>T (p.Leu756=) c.2274C>T (p.Leu758=) c.2286C>T (p.Leu762=) c.2256C>T (p.Leu752=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.159341652C>A | CA358591179 | RAPGEF2 | c.2140C>A (p.Leu714Ile) c.2623C>A (p.Leu875Ile) c.2605C>A (p.Leu869Ile) c.2269C>A (p.Leu757Ile) c.2275C>A (p.Leu759Ile) c.2287C>A (p.Leu763Ile) c.2257C>A (p.Leu753Ile) | |
| 4 | g.159341652C>G | CA358591180 | RAPGEF2 | c.2140C>G (p.Leu714Val) c.2623C>G (p.Leu875Val) c.2605C>G (p.Leu869Val) c.2269C>G (p.Leu757Val) c.2275C>G (p.Leu759Val) c.2287C>G (p.Leu763Val) c.2257C>G (p.Leu753Val) | |
| 4 | g.159341652C>T | CA358591181 | RAPGEF2 | c.2140C>T (p.Leu714Phe) c.2623C>T (p.Leu875Phe) c.2605C>T (p.Leu869Phe) c.2269C>T (p.Leu757Phe) c.2275C>T (p.Leu759Phe) c.2287C>T (p.Leu763Phe) c.2257C>T (p.Leu753Phe) | |
| 4 | g.159341653_159341655del | CA2672534917 | RAPGEF2 | c.2141_2143del (p.Leu714del) c.2624_2626del (p.Leu875del) c.2606_2608del (p.Leu869del) c.2270_2272del (p.Leu757del) c.2276_2278del (p.Leu759del) c.2288_2290del (p.Leu763del) c.2258_2260del (p.Leu753del) | gnomAD v4 |
| 4 | g.159341653T>A | CA358591182 | RAPGEF2 | c.2141T>A (p.Leu714His) c.2624T>A (p.Leu875His) c.2606T>A (p.Leu869His) c.2270T>A (p.Leu757His) c.2276T>A (p.Leu759His) c.2288T>A (p.Leu763His) c.2258T>A (p.Leu753His) | |
| 4 | g.159341653T>C | CA358591183 | RAPGEF2 | c.2141T>C (p.Leu714Pro) c.2624T>C (p.Leu875Pro) c.2606T>C (p.Leu869Pro) c.2270T>C (p.Leu757Pro) c.2276T>C (p.Leu759Pro) c.2288T>C (p.Leu763Pro) c.2258T>C (p.Leu753Pro) | gnomAD v4 |
| 4 | g.159341653T>G | CA358591184 | RAPGEF2 | c.2141T>G (p.Leu714Arg) c.2624T>G (p.Leu875Arg) c.2606T>G (p.Leu869Arg) c.2270T>G (p.Leu757Arg) c.2276T>G (p.Leu759Arg) c.2288T>G (p.Leu763Arg) c.2258T>G (p.Leu753Arg) | |
| 4 | g.159341654T>A | CA442144701 | RAPGEF2 | c.2142T>A (p.Leu714=) c.2625T>A (p.Leu875=) c.2607T>A (p.Leu869=) c.2271T>A (p.Leu757=) c.2277T>A (p.Leu759=) c.2289T>A (p.Leu763=) c.2259T>A (p.Leu753=) | |
| 4 | g.159341654T>C | CA442144703 | RAPGEF2 | c.2142T>C (p.Leu714=) c.2625T>C (p.Leu875=) c.2607T>C (p.Leu869=) c.2271T>C (p.Leu757=) c.2277T>C (p.Leu759=) c.2289T>C (p.Leu763=) c.2259T>C (p.Leu753=) | |
| 4 | g.159341654T>G | CA442144702 | RAPGEF2 | c.2142T>G (p.Leu714=) c.2625T>G (p.Leu875=) c.2607T>G (p.Leu869=) c.2271T>G (p.Leu757=) c.2277T>G (p.Leu759=) c.2289T>G (p.Leu763=) c.2259T>G (p.Leu753=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.159341655C>A | CA358591185 | RAPGEF2 | c.2143C>A (p.Gln715Lys) c.2626C>A (p.Gln876Lys) c.2608C>A (p.Gln870Lys) c.2272C>A (p.Gln758Lys) c.2278C>A (p.Gln760Lys) c.2290C>A (p.Gln764Lys) c.2260C>A (p.Gln754Lys) | |
| 4 | g.159341655C>G | CA358591186 | RAPGEF2 | c.2143C>G (p.Gln715Glu) c.2626C>G (p.Gln876Glu) c.2608C>G (p.Gln870Glu) c.2272C>G (p.Gln758Glu) c.2278C>G (p.Gln760Glu) c.2290C>G (p.Gln764Glu) c.2260C>G (p.Gln754Glu) | |
| 4 | g.159341655C>T | CA358591187 | RAPGEF2 | c.2143C>T (p.Gln715Ter) c.2626C>T (p.Gln876Ter) c.2608C>T (p.Gln870Ter) c.2272C>T (p.Gln758Ter) c.2278C>T (p.Gln760Ter) c.2290C>T (p.Gln764Ter) c.2260C>T (p.Gln754Ter) | |
| 4 | g.159341656A>C | CA358591188 | RAPGEF2 | c.2144A>C (p.Gln715Pro) c.2627A>C (p.Gln876Pro) c.2609A>C (p.Gln870Pro) c.2273A>C (p.Gln758Pro) c.2279A>C (p.Gln760Pro) c.2291A>C (p.Gln764Pro) c.2261A>C (p.Gln754Pro) | |
| 4 | g.159341656A>G | CA358591189 | RAPGEF2 | c.2144A>G (p.Gln715Arg) c.2627A>G (p.Gln876Arg) c.2609A>G (p.Gln870Arg) c.2273A>G (p.Gln758Arg) c.2279A>G (p.Gln760Arg) c.2291A>G (p.Gln764Arg) c.2261A>G (p.Gln754Arg) | |
| 4 | g.159341656A>T | CA358591190 | RAPGEF2 | c.2144A>T (p.Gln715Leu) c.2627A>T (p.Gln876Leu) c.2609A>T (p.Gln870Leu) c.2273A>T (p.Gln758Leu) c.2279A>T (p.Gln760Leu) c.2291A>T (p.Gln764Leu) c.2261A>T (p.Gln754Leu) | |
| 4 | g.159341657G>A | CA442144704 | RAPGEF2 | c.2145G>A (p.Gln715=) c.2628G>A (p.Gln876=) c.2610G>A (p.Gln870=) c.2274G>A (p.Gln758=) c.2280G>A (p.Gln760=) c.2292G>A (p.Gln764=) c.2262G>A (p.Gln754=) | gnomAD v4 |
| 4 | g.159341657G>C | CA358591191 | RAPGEF2 | c.2145G>C (p.Gln715His) c.2628G>C (p.Gln876His) c.2610G>C (p.Gln870His) c.2274G>C (p.Gln758His) c.2280G>C (p.Gln760His) c.2292G>C (p.Gln764His) c.2262G>C (p.Gln754His) | |
| 4 | g.159341657G>T | CA358591192 | RAPGEF2 | c.2145G>T (p.Gln715His) c.2628G>T (p.Gln876His) c.2610G>T (p.Gln870His) c.2274G>T (p.Gln758His) c.2280G>T (p.Gln760His) c.2292G>T (p.Gln764His) c.2262G>T (p.Gln754His) | |
| 4 | g.159341658C>A | CA358591193 | RAPGEF2 | c.2146C>A (p.Leu716Ile) c.2629C>A (p.Leu877Ile) c.2611C>A (p.Leu871Ile) c.2275C>A (p.Leu759Ile) c.2281C>A (p.Leu761Ile) c.2293C>A (p.Leu765Ile) c.2263C>A (p.Leu755Ile) | |
| 4 | g.159341658C>G | CA358591194 | RAPGEF2 | c.2146C>G (p.Leu716Val) c.2629C>G (p.Leu877Val) c.2611C>G (p.Leu871Val) c.2275C>G (p.Leu759Val) c.2281C>G (p.Leu761Val) c.2293C>G (p.Leu765Val) c.2263C>G (p.Leu755Val) | |
| 4 | g.159341658C>T | CA358591195 | RAPGEF2 | c.2146C>T (p.Leu716Phe) c.2629C>T (p.Leu877Phe) c.2611C>T (p.Leu871Phe) c.2275C>T (p.Leu759Phe) c.2281C>T (p.Leu761Phe) c.2293C>T (p.Leu765Phe) c.2263C>T (p.Leu755Phe) | |
| 4 | g.159341659T>A | CA358591196 | RAPGEF2 | c.2147T>A (p.Leu716His) c.2630T>A (p.Leu877His) c.2612T>A (p.Leu871His) c.2276T>A (p.Leu759His) c.2282T>A (p.Leu761His) c.2294T>A (p.Leu765His) c.2264T>A (p.Leu755His) | |
| 4 | g.159341659T>C | CA358591197 | RAPGEF2 | c.2147T>C (p.Leu716Pro) c.2630T>C (p.Leu877Pro) c.2612T>C (p.Leu871Pro) c.2276T>C (p.Leu759Pro) c.2282T>C (p.Leu761Pro) c.2294T>C (p.Leu765Pro) c.2264T>C (p.Leu755Pro) | |
| 4 | g.159341659T>G | CA358591198 | RAPGEF2 | c.2147T>G (p.Leu716Arg) c.2630T>G (p.Leu877Arg) c.2612T>G (p.Leu871Arg) c.2276T>G (p.Leu759Arg) c.2282T>G (p.Leu761Arg) c.2294T>G (p.Leu765Arg) c.2264T>G (p.Leu755Arg) | |
| 4 | g.159341660C>A | CA442144705 | RAPGEF2 | c.2148C>A (p.Leu716=) c.2631C>A (p.Leu877=) c.2613C>A (p.Leu871=) c.2277C>A (p.Leu759=) c.2283C>A (p.Leu761=) c.2295C>A (p.Leu765=) c.2265C>A (p.Leu755=) | |
| 4 | g.159341660C= | CA1507167716 | RAPGEF2 | c.2148C= (p.Leu716=) c.2631C= (p.Leu877=) c.2613C= (p.Leu871=) c.2277C= (p.Leu759=) c.2283C= (p.Leu761=) c.2295C= (p.Leu765=) c.2265C= (p.Leu755=) | |
| 4 | g.159341660C>G | CA442144706 | RAPGEF2 | c.2148C>G (p.Leu716=) c.2631C>G (p.Leu877=) c.2613C>G (p.Leu871=) c.2277C>G (p.Leu759=) c.2283C>G (p.Leu761=) c.2295C>G (p.Leu765=) c.2265C>G (p.Leu755=) | gnomAD v4 |
| 4 | g.159341660C>T | CA3124795 | RAPGEF2 | c.2148C>T (p.Leu716=) c.2631C>T (p.Leu877=) c.2613C>T (p.Leu871=) c.2277C>T (p.Leu759=) c.2283C>T (p.Leu761=) c.2295C>T (p.Leu765=) c.2265C>T (p.Leu755=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.159341661A= | CA1507167717 | RAPGEF2 | c.2149A= (p.Ser717=) c.2632A= (p.Ser878=) c.2614A= (p.Ser872=) c.2278A= (p.Ser760=) c.2284A= (p.Ser762=) c.2296A= (p.Ser766=) c.2266A= (p.Ser756=) | |
| 4 | g.159341661A>C | CA358591199 | RAPGEF2 | c.2149A>C (p.Ser717Arg) c.2632A>C (p.Ser878Arg) c.2614A>C (p.Ser872Arg) c.2278A>C (p.Ser760Arg) c.2284A>C (p.Ser762Arg) c.2296A>C (p.Ser766Arg) c.2266A>C (p.Ser756Arg) | |
| 4 | g.159341661A>G | CA358591200 | RAPGEF2 | c.2149A>G (p.Ser717Gly) c.2632A>G (p.Ser878Gly) c.2614A>G (p.Ser872Gly) c.2278A>G (p.Ser760Gly) c.2284A>G (p.Ser762Gly) c.2296A>G (p.Ser766Gly) c.2266A>G (p.Ser756Gly) | dbSNP |
| 4 | g.159341661A>T | CA358591201 | RAPGEF2 | c.2149A>T (p.Ser717Cys) c.2632A>T (p.Ser878Cys) c.2614A>T (p.Ser872Cys) c.2278A>T (p.Ser760Cys) c.2284A>T (p.Ser762Cys) c.2296A>T (p.Ser766Cys) c.2266A>T (p.Ser756Cys) | COSMIC |