Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.20425419_20425499del | CA2655397079 | SCARF2 | c.2485_2565del (p.Thr829_Ala855del) c.2497_2577del (p.Thr833_Ala859del) c.2500_2580del (p.Thr834_Ala860del) | gnomAD v4 |
22 | g.20425444_20425445del | CA2655397088 | SCARF2 | c.2532_2533del (p.Lys845AlafsTer?) c.2544_2545del (p.Lys849AlafsTer?) c.2547_2548del (p.Lys850AlafsTer?) | gnomAD v4 |
22 | g.20425444C>A | CA410737708 | SCARF2 | c.2532G>T (p.Gln844His) c.2544G>T (p.Gln848His) c.2547G>T (p.Gln849His) | gnomAD v4 |
22 | g.20425444C>G | CA410737711 | SCARF2 | c.2532G>C (p.Gln844His) c.2544G>C (p.Gln848His) c.2547G>C (p.Gln849His) | gnomAD v4 |
22 | g.20425444C>T | CA513694086 | SCARF2 | c.2532G>A (p.Gln844=) c.2544G>A (p.Gln848=) c.2547G>A (p.Gln849=) | gnomAD v4 |
22 | g.20425444_20425445delinsCT | CA2396362434 | SCARF2 | c.2531_2532delinsAG (p.Gln844=) c.2543_2544delinsAG (p.Gln848=) c.2546_2547delinsAG (p.Gln849=) | |
22 | g.20425445del | CA170612 | SCARF2 | c.2531del (p.Gln844ArgfsTer?) c.2543del (p.Gln848ArgfsTer?) c.2546del (p.Gln849ArgfsTer?) | ClinVar dbSNP |
22 | g.20425445T>A | CA410737715 | SCARF2 | c.2531A>T (p.Gln844Leu) c.2543A>T (p.Gln848Leu) c.2546A>T (p.Gln849Leu) | |
22 | g.20425445T>C | CA410737718 | SCARF2 | c.2531A>G (p.Gln844Arg) c.2543A>G (p.Gln848Arg) c.2546A>G (p.Gln849Arg) | gnomAD v4 |
22 | g.20425445T>G | CA410737722 | SCARF2 | c.2531A>C (p.Gln844Pro) c.2543A>C (p.Gln848Pro) c.2546A>C (p.Gln849Pro) | |
22 | g.20425446G>A | CA410737730 | SCARF2 | c.2530C>T (p.Gln844Ter) c.2542C>T (p.Gln848Ter) c.2545C>T (p.Gln849Ter) | gnomAD v4 |
22 | g.20425446G>C | CA410737732 | SCARF2 | c.2530C>G (p.Gln844Glu) c.2542C>G (p.Gln848Glu) c.2545C>G (p.Gln849Glu) | |
22 | g.20425446G>T | CA410737727 | SCARF2 | c.2530C>A (p.Gln844Lys) c.2542C>A (p.Gln848Lys) c.2545C>A (p.Gln849Lys) | gnomAD v4 |
22 | g.20425447del | CA2655397089 | SCARF2 | c.2530del (p.Gln844ArgfsTer?) c.2542del (p.Gln848ArgfsTer?) c.2545del (p.Gln849ArgfsTer?) | gnomAD v4 |
22 | g.20425447G>A | CA513694089 | SCARF2 | c.2529C>T (p.Ile843=) c.2541C>T (p.Ile847=) c.2544C>T (p.Ile848=) | gnomAD v4 |
22 | g.20425447G>C | CA410737741 | SCARF2 | c.2529C>G (p.Ile843Met) c.2541C>G (p.Ile847Met) c.2544C>G (p.Ile848Met) | |
22 | g.20425447G= | CA2396362435 | SCARF2 | c.2529C= (p.Ile843=) c.2541C= (p.Ile847=) c.2544C= (p.Ile848=) | |
22 | g.20425447G>T | CA513694088 | SCARF2 | c.2529C>A (p.Ile843=) c.2541C>A (p.Ile847=) c.2544C>A (p.Ile848=) | gnomAD v4 |
22 | g.20425448A= | CA2396362436 | SCARF2 | c.2528T= (p.Ile843=) c.2540T= (p.Ile847=) c.2543T= (p.Ile848=) | |
22 | g.20425448A>C | CA410737745 | SCARF2 | c.2528T>G (p.Ile843Ser) c.2540T>G (p.Ile847Ser) c.2543T>G (p.Ile848Ser) | gnomAD v4 |
22 | g.20425448A>G | CA410737748 | SCARF2 | c.2528T>C (p.Ile843Thr) c.2540T>C (p.Ile847Thr) c.2543T>C (p.Ile848Thr) | gnomAD v4 |
22 | g.20425448A>T | CA322181858 | SCARF2 | c.2528T>A (p.Ile843Asn) c.2540T>A (p.Ile847Asn) c.2543T>A (p.Ile848Asn) | dbSNP gnomAD v4 |
22 | g.20425448dup | CA638940754 | SCARF2 | c.2528dup (p.Gln844ProfsTer?) c.2540dup (p.Gln848ProfsTer?) c.2543dup (p.Gln849ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425449T>A | CA410737761 | SCARF2 | c.2527A>T (p.Ile843Phe) c.2539A>T (p.Ile847Phe) c.2542A>T (p.Ile848Phe) | gnomAD v4 |
22 | g.20425449T>C | CA410737758 | SCARF2 | c.2527A>G (p.Ile843Val) c.2539A>G (p.Ile847Val) c.2542A>G (p.Ile848Val) | gnomAD v4 |
22 | g.20425449T>G | CA410737755 | SCARF2 | c.2527A>C (p.Ile843Leu) c.2539A>C (p.Ile847Leu) c.2542A>C (p.Ile848Leu) | |
22 | g.20425450G>A | CA513694092 | SCARF2 | c.2526C>T (p.Pro842=) c.2538C>T (p.Pro846=) c.2541C>T (p.Pro847=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425450G>C | CA513694093 | SCARF2 | c.2526C>G (p.Pro842=) c.2538C>G (p.Pro846=) c.2541C>G (p.Pro847=) | |
22 | g.20425450G= | CA2396362437 | SCARF2 | c.2526C= (p.Pro842=) c.2538C= (p.Pro846=) c.2541C= (p.Pro847=) | |
22 | g.20425450G>T | CA513694091 | SCARF2 | c.2526C>A (p.Pro842=) c.2538C>A (p.Pro846=) c.2541C>A (p.Pro847=) | gnomAD v4 |
22 | g.20425454dup | CA2655397090 | SCARF2 | c.2526dup (p.Ile843HisfsTer?) c.2538dup (p.Ile847HisfsTer?) c.2541dup (p.Ile848HisfsTer?) | gnomAD v4 |
22 | g.20425454del | CA2655397091 | SCARF2 | c.2526del (p.Ile843SerfsTer?) c.2538del (p.Ile847SerfsTer?) c.2541del (p.Ile848SerfsTer?) | gnomAD v4 |
22 | g.20425451G>A | CA410737766 | SCARF2 | c.2525C>T (p.Pro842Leu) c.2537C>T (p.Pro846Leu) c.2540C>T (p.Pro847Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425451G>C | CA410737768 | SCARF2 | c.2525C>G (p.Pro842Arg) c.2537C>G (p.Pro846Arg) c.2540C>G (p.Pro847Arg) | gnomAD v4 |
22 | g.20425451G= | CA2396362438 | SCARF2 | c.2525C= (p.Pro842=) c.2537C= (p.Pro846=) c.2540C= (p.Pro847=) | |
22 | g.20425451G>T | CA410737771 | SCARF2 | c.2525C>A (p.Pro842His) c.2537C>A (p.Pro846His) c.2540C>A (p.Pro847His) | gnomAD v4 |
22 | g.20425452G>A | CA410737776 | SCARF2 | c.2524C>T (p.Pro842Ser) c.2536C>T (p.Pro846Ser) c.2539C>T (p.Pro847Ser) | gnomAD v4 |
22 | g.20425452G>C | CA410737778 | SCARF2 | c.2524C>G (p.Pro842Ala) c.2536C>G (p.Pro846Ala) c.2539C>G (p.Pro847Ala) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425452G= | CA2396362439 | SCARF2 | c.2524C= (p.Pro842=) c.2536C= (p.Pro846=) c.2539C= (p.Pro847=) | |
22 | g.20425452G>T | CA410737782 | SCARF2 | c.2524C>A (p.Pro842Thr) c.2536C>A (p.Pro846Thr) c.2539C>A (p.Pro847Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425453G>A | CA513694097 | SCARF2 | c.2523C>T (p.Thr841=) c.2535C>T (p.Thr845=) c.2538C>T (p.Thr846=) | gnomAD v4 |
22 | g.20425453G>C | CA513694095 | SCARF2 | c.2523C>G (p.Thr841=) c.2535C>G (p.Thr845=) c.2538C>G (p.Thr846=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425453G= | CA2396362440 | SCARF2 | c.2523C= (p.Thr841=) c.2535C= (p.Thr845=) c.2538C= (p.Thr846=) | |
22 | g.20425453G>T | CA513694098 | SCARF2 | c.2523C>A (p.Thr841=) c.2535C>A (p.Thr845=) c.2538C>A (p.Thr846=) | gnomAD v4 |
22 | g.20425454G>A | CA10112146 | SCARF2 | c.2522C>T (p.Thr841Ile) c.2534C>T (p.Thr845Ile) c.2537C>T (p.Thr846Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425454G>C | CA410737791 | SCARF2 | c.2522C>G (p.Thr841Ser) c.2534C>G (p.Thr845Ser) c.2537C>G (p.Thr846Ser) | |
22 | g.20425454G= | CA2396362441 | SCARF2 | c.2522C= (p.Thr841=) c.2534C= (p.Thr845=) c.2537C= (p.Thr846=) | |
22 | g.20425454G>T | CA410737788 | SCARF2 | c.2522C>A (p.Thr841Asn) c.2534C>A (p.Thr845Asn) c.2537C>A (p.Thr846Asn) | gnomAD v4 |
22 | g.20425454_20425456del | CA2818417611 | SCARF2 | c.2520_2522del (p.Lys840_Thr841delinsAsn) c.2532_2534del (p.Lys844_Thr845delinsAsn) c.2535_2537del (p.Lys845_Thr846delinsAsn) | |
22 | g.20425454_20425457delinsGTCT | CA2396362442 | SCARF2 | c.2519_2522delinsAGAC (p.Lys840=) c.2531_2534delinsAGAC (p.Lys844=) c.2534_2537delinsAGAC (p.Lys845=) | |
22 | g.20425455T>A | CA410737797 | SCARF2 | c.2521A>T (p.Thr841Ser) c.2533A>T (p.Thr845Ser) c.2536A>T (p.Thr846Ser) | gnomAD v4 |
22 | g.20425455T>C | CA410737800 | SCARF2 | c.2521A>G (p.Thr841Ala) c.2533A>G (p.Thr845Ala) c.2536A>G (p.Thr846Ala) | gnomAD v4 |
22 | g.20425455T>G | CA410737803 | SCARF2 | c.2521A>C (p.Thr841Pro) c.2533A>C (p.Thr845Pro) c.2536A>C (p.Thr846Pro) | gnomAD v4 |
22 | g.20425460_20425462del | CA10112147 | SCARF2 | c.2519_2521del (p.Lys840del) c.2531_2533del (p.Lys844del) c.2534_2536del (p.Lys845del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425456C>A | CA410737806 | SCARF2 | c.2520G>T (p.Lys840Asn) c.2532G>T (p.Lys844Asn) c.2535G>T (p.Lys845Asn) | gnomAD v4 |
22 | g.20425456C>G | CA410737810 | SCARF2 | c.2520G>C (p.Lys840Asn) c.2532G>C (p.Lys844Asn) c.2535G>C (p.Lys845Asn) | gnomAD v4 |
22 | g.20425456C>T | CA513694101 | SCARF2 | c.2520G>A (p.Lys840=) c.2532G>A (p.Lys844=) c.2535G>A (p.Lys845=) | gnomAD v4 |
22 | g.20425457T>A | CA410737814 | SCARF2 | c.2519A>T (p.Lys840Met) c.2531A>T (p.Lys844Met) c.2534A>T (p.Lys845Met) | gnomAD v4 |
22 | g.20425457T>C | CA410737816 | SCARF2 | c.2519A>G (p.Lys840Arg) c.2531A>G (p.Lys844Arg) c.2534A>G (p.Lys845Arg) | gnomAD v4 |
22 | g.20425457T>G | CA410737819 | SCARF2 | c.2519A>C (p.Lys840Thr) c.2531A>C (p.Lys844Thr) c.2534A>C (p.Lys845Thr) | gnomAD v4 |
22 | g.20425458T>A | CA410737822 | SCARF2 | c.2518A>T (p.Lys840Ter) c.2530A>T (p.Lys844Ter) c.2533A>T (p.Lys845Ter) | gnomAD v4 |
22 | g.20425458T>C | CA410737825 | SCARF2 | c.2518A>G (p.Lys840Glu) c.2530A>G (p.Lys844Glu) c.2533A>G (p.Lys845Glu) | gnomAD v4 |
22 | g.20425458T>G | CA410737828 | SCARF2 | c.2518A>C (p.Lys840Gln) c.2530A>C (p.Lys844Gln) c.2533A>C (p.Lys845Gln) | gnomAD v4 |
22 | g.20425459C>A | CA410737832 | SCARF2 | c.2517G>T (p.Lys839Asn) c.2529G>T (p.Lys843Asn) c.2532G>T (p.Lys844Asn) | gnomAD v4 |
22 | g.20425459C>G | CA410737835 | SCARF2 | c.2517G>C (p.Lys839Asn) c.2529G>C (p.Lys843Asn) c.2532G>C (p.Lys844Asn) | gnomAD v4 |
22 | g.20425459C>T | CA513694103 | SCARF2 | c.2517G>A (p.Lys839=) c.2529G>A (p.Lys843=) c.2532G>A (p.Lys844=) | gnomAD v4 |
22 | g.20425460T>A | CA410737843 | SCARF2 | c.2516A>T (p.Lys839Met) c.2528A>T (p.Lys843Met) c.2531A>T (p.Lys844Met) | |
22 | g.20425460T>C | CA410737841 | SCARF2 | c.2516A>G (p.Lys839Arg) c.2528A>G (p.Lys843Arg) c.2531A>G (p.Lys844Arg) | gnomAD v4 |
22 | g.20425460T>G | CA322181883 | SCARF2 | c.2516A>C (p.Lys839Thr) c.2528A>C (p.Lys843Thr) c.2531A>C (p.Lys844Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425460T= | CA2396362443 | SCARF2 | c.2516A= (p.Lys839=) c.2528A= (p.Lys843=) c.2531A= (p.Lys844=) | |
22 | g.20425461T>A | CA410737845 | SCARF2 | c.2515A>T (p.Lys839Ter) c.2527A>T (p.Lys843Ter) c.2530A>T (p.Lys844Ter) | |
22 | g.20425461T>C | CA410737847 | SCARF2 | c.2515A>G (p.Lys839Glu) c.2527A>G (p.Lys843Glu) c.2530A>G (p.Lys844Glu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425461T>G | CA410737850 | SCARF2 | c.2515A>C (p.Lys839Gln) c.2527A>C (p.Lys843Gln) c.2530A>C (p.Lys844Gln) | gnomAD v4 |
22 | g.20425461T= | CA2396362444 | SCARF2 | c.2515A= (p.Lys839=) c.2527A= (p.Lys843=) c.2530A= (p.Lys844=) | |
22 | g.20425462C>A | CA513694108 | SCARF2 | c.2514G>T (p.Arg838=) c.2526G>T (p.Arg842=) c.2529G>T (p.Arg843=) | gnomAD v4 |
22 | g.20425462C= | CA2396362445 | SCARF2 | c.2514G= (p.Arg838=) c.2526G= (p.Arg842=) c.2529G= (p.Arg843=) | |
22 | g.20425462C>G | CA513694109 | SCARF2 | c.2514G>C (p.Arg838=) c.2526G>C (p.Arg842=) c.2529G>C (p.Arg843=) | gnomAD v4 |
22 | g.20425462C>T | CA513694107 | SCARF2 | c.2514G>A (p.Arg838=) c.2526G>A (p.Arg842=) c.2529G>A (p.Arg843=) | dbSNP gnomAD v4 |
22 | g.20425463C>A | CA410737854 | SCARF2 | c.2513G>T (p.Arg838Leu) c.2525G>T (p.Arg842Leu) c.2528G>T (p.Arg843Leu) | gnomAD v4 |
22 | g.20425463C= | CA2396362446 | SCARF2 | c.2513G= (p.Arg838=) c.2525G= (p.Arg842=) c.2528G= (p.Arg843=) | |
22 | g.20425463C>G | CA410737857 | SCARF2 | c.2513G>C (p.Arg838Pro) c.2525G>C (p.Arg842Pro) c.2528G>C (p.Arg843Pro) | gnomAD v4 |
22 | g.20425463C>T | CA10112148 | SCARF2 | c.2513G>A (p.Arg838Gln) c.2525G>A (p.Arg842Gln) c.2528G>A (p.Arg843Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425464G>A | CA10112149 | SCARF2 | c.2512C>T (p.Arg838Trp) c.2524C>T (p.Arg842Trp) c.2527C>T (p.Arg843Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425464G>C | CA410737862 | SCARF2 | c.2512C>G (p.Arg838Gly) c.2524C>G (p.Arg842Gly) c.2527C>G (p.Arg843Gly) | gnomAD v4 |
22 | g.20425464G= | CA2396362447 | SCARF2 | c.2512C= (p.Arg838=) c.2524C= (p.Arg842=) c.2527C= (p.Arg843=) | |
22 | g.20425464G>T | CA513694111 | SCARF2 | c.2512C>A (p.Arg838=) c.2524C>A (p.Arg842=) c.2527C>A (p.Arg843=) | gnomAD v4 |
22 | g.20425469dup | CA638940755 | SCARF2 | c.2512dup (p.Arg838ProfsTer?) c.2524dup (p.Arg842ProfsTer?) c.2527dup (p.Arg843ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425469del | CA638940756 | SCARF2 | c.2512del (p.Arg838GlyfsTer?) c.2524del (p.Arg842GlyfsTer?) c.2527del (p.Arg843GlyfsTer?) | gnomAD v2 gnomAD v4 |
22 | g.20425465G>A | CA513694113 | SCARF2 | c.2511C>T (p.Pro837=) c.2523C>T (p.Pro841=) c.2526C>T (p.Pro842=) | dbSNP gnomAD v4 |
22 | g.20425465G>C | CA513694115 | SCARF2 | c.2511C>G (p.Pro837=) c.2523C>G (p.Pro841=) c.2526C>G (p.Pro842=) | |
22 | g.20425465G= | CA2396362448 | SCARF2 | c.2511C= (p.Pro837=) c.2523C= (p.Pro841=) c.2526C= (p.Pro842=) | |
22 | g.20425465G>T | CA513694114 | SCARF2 | c.2511C>A (p.Pro837=) c.2523C>A (p.Pro841=) c.2526C>A (p.Pro842=) | gnomAD v4 |
22 | g.20425466G>A | CA410737865 | SCARF2 | c.2510C>T (p.Pro837Leu) c.2522C>T (p.Pro841Leu) c.2525C>T (p.Pro842Leu) | gnomAD v4 |
22 | g.20425466G>C | CA410737867 | SCARF2 | c.2510C>G (p.Pro837Arg) c.2522C>G (p.Pro841Arg) c.2525C>G (p.Pro842Arg) | gnomAD v4 |
22 | g.20425466G>T | CA410737870 | SCARF2 | c.2510C>A (p.Pro837His) c.2522C>A (p.Pro841His) c.2525C>A (p.Pro842His) | gnomAD v4 |
22 | g.20425467G>A | CA322181904 | SCARF2 | c.2509C>T (p.Pro837Ser) c.2521C>T (p.Pro841Ser) c.2524C>T (p.Pro842Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425467G>C | CA410737876 | SCARF2 | c.2509C>G (p.Pro837Ala) c.2521C>G (p.Pro841Ala) c.2524C>G (p.Pro842Ala) | gnomAD v4 |
22 | g.20425467G= | CA2396362449 | SCARF2 | c.2509C= (p.Pro837=) c.2521C= (p.Pro841=) c.2524C= (p.Pro842=) | |
22 | g.20425467G>T | CA322181910 | SCARF2 | c.2509C>A (p.Pro837Thr) c.2521C>A (p.Pro841Thr) c.2524C>A (p.Pro842Thr) | dbSNP gnomAD v4 |
22 | g.20425468G>A | CA513694119 | SCARF2 | c.2508C>T (p.Thr836=) c.2520C>T (p.Thr840=) c.2523C>T (p.Thr841=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425468G>C | CA513694121 | SCARF2 | c.2508C>G (p.Thr836=) c.2520C>G (p.Thr840=) c.2523C>G (p.Thr841=) | gnomAD v4 |
22 | g.20425468G= | CA2396362450 | SCARF2 | c.2508C= (p.Thr836=) c.2520C= (p.Thr840=) c.2523C= (p.Thr841=) | |
22 | g.20425468G>T | CA513694120 | SCARF2 | c.2508C>A (p.Thr836=) c.2520C>A (p.Thr840=) c.2523C>A (p.Thr841=) | gnomAD v4 |
22 | g.20425469G>A | CA410737884 | SCARF2 | c.2507C>T (p.Thr836Ile) c.2519C>T (p.Thr840Ile) c.2522C>T (p.Thr841Ile) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425469G>C | CA10112151 | SCARF2 | c.2507C>G (p.Thr836Ser) c.2519C>G (p.Thr840Ser) c.2522C>G (p.Thr841Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425469G= | CA2396362452 | SCARF2 | c.2507C= (p.Thr836=) c.2519C= (p.Thr840=) c.2522C= (p.Thr841=) | |
22 | g.20425469G>T | CA10112152 | SCARF2 | c.2507C>A (p.Thr836Asn) c.2519C>A (p.Thr840Asn) c.2522C>A (p.Thr841Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425469_20425499delinsGTCTCAGGCGCGGGCAAGTCGGTCGCCGCCT | CA2396362451 | SCARF2 | c.2477_2507delinsAGGCGGCGACCGACTTGCCCGCGCCTGAGAC (p.Lys826=) c.2489_2519delinsAGGCGGCGACCGACTTGCCCGCGCCTGAGAC (p.Lys830=) c.2492_2522delinsAGGCGGCGACCGACTTGCCCGCGCCTGAGAC (p.Lys831=) | |
22 | g.20425470T>A | CA322181915 | SCARF2 | c.2506A>T (p.Thr836Ser) c.2518A>T (p.Thr840Ser) c.2521A>T (p.Thr841Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425470T>C | CA10112153 | SCARF2 | c.2506A>G (p.Thr836Ala) c.2518A>G (p.Thr840Ala) c.2521A>G (p.Thr841Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425470T>G | CA410737889 | SCARF2 | c.2506A>C (p.Thr836Pro) c.2518A>C (p.Thr840Pro) c.2521A>C (p.Thr841Pro) | gnomAD v4 |
22 | g.20425470T= | CA2396362453 | SCARF2 | c.2506A= (p.Thr836=) c.2518A= (p.Thr840=) c.2521A= (p.Thr841=) | |
22 | g.20425478_20425507del | CA10112150 | SCARF2 | c.2477_2506del (p.Lys826_Glu835del) c.2489_2518del (p.Lys830_Glu839del) c.2492_2521del (p.Lys831_Glu840del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425471C>A | CA410737896 | SCARF2 | c.2505G>T (p.Glu835Asp) c.2517G>T (p.Glu839Asp) c.2520G>T (p.Glu840Asp) | gnomAD v4 |
22 | g.20425471C>G | CA410737897 | SCARF2 | c.2505G>C (p.Glu835Asp) c.2517G>C (p.Glu839Asp) c.2520G>C (p.Glu840Asp) | gnomAD v4 |
22 | g.20425471C>T | CA513694127 | SCARF2 | c.2505G>A (p.Glu835=) c.2517G>A (p.Glu839=) c.2520G>A (p.Glu840=) | gnomAD v4 |
22 | g.20425472T>A | CA410737899 | SCARF2 | c.2504A>T (p.Glu835Val) c.2516A>T (p.Glu839Val) c.2519A>T (p.Glu840Val) | gnomAD v4 |
22 | g.20425472T>C | CA410737900 | SCARF2 | c.2504A>G (p.Glu835Gly) c.2516A>G (p.Glu839Gly) c.2519A>G (p.Glu840Gly) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425472T>G | CA410737901 | SCARF2 | c.2504A>C (p.Glu835Ala) c.2516A>C (p.Glu839Ala) c.2519A>C (p.Glu840Ala) | gnomAD v4 |
22 | g.20425472T= | CA2396362454 | SCARF2 | c.2504A= (p.Glu835=) c.2516A= (p.Glu839=) c.2519A= (p.Glu840=) | |
22 | g.20425473del | CA2655397094 | SCARF2 | c.2503del (p.Glu835ArgfsTer?) c.2515del (p.Glu839ArgfsTer?) c.2518del (p.Glu840ArgfsTer?) | gnomAD v4 |
22 | g.20425473C>A | CA410737904 | SCARF2 | c.2503G>T (p.Glu835Ter) c.2515G>T (p.Glu839Ter) c.2518G>T (p.Glu840Ter) | gnomAD v4 |
22 | g.20425473C>G | CA410737905 | SCARF2 | c.2503G>C (p.Glu835Gln) c.2515G>C (p.Glu839Gln) c.2518G>C (p.Glu840Gln) | gnomAD v4 |
22 | g.20425473C>T | CA410737907 | SCARF2 | c.2503G>A (p.Glu835Lys) c.2515G>A (p.Glu839Lys) c.2518G>A (p.Glu840Lys) | gnomAD v4 |
22 | g.20425474A>C | CA513694131 | SCARF2 | c.2502T>G (p.Pro834=) c.2514T>G (p.Pro838=) c.2517T>G (p.Pro839=) | |
22 | g.20425474A>G | CA513694130 | SCARF2 | c.2502T>C (p.Pro834=) c.2514T>C (p.Pro838=) c.2517T>C (p.Pro839=) | gnomAD v4 |
22 | g.20425474A>T | CA513694128 | SCARF2 | c.2502T>A (p.Pro834=) c.2514T>A (p.Pro838=) c.2517T>A (p.Pro839=) | gnomAD v4 |
22 | g.20425475G>A | CA410737915 | SCARF2 | c.2501C>T (p.Pro834Leu) c.2513C>T (p.Pro838Leu) c.2516C>T (p.Pro839Leu) | gnomAD v4 |
22 | g.20425475G>C | CA410737918 | SCARF2 | c.2501C>G (p.Pro834Arg) c.2513C>G (p.Pro838Arg) c.2516C>G (p.Pro839Arg) | |
22 | g.20425475G>T | CA410737912 | SCARF2 | c.2501C>A (p.Pro834His) c.2513C>A (p.Pro838His) c.2516C>A (p.Pro839His) | gnomAD v4 |
22 | g.20425476G>A | CA410737922 | SCARF2 | c.2500C>T (p.Pro834Ser) c.2512C>T (p.Pro838Ser) c.2515C>T (p.Pro839Ser) | gnomAD v4 |
22 | g.20425476G>C | CA410737926 | SCARF2 | c.2500C>G (p.Pro834Ala) c.2512C>G (p.Pro838Ala) c.2515C>G (p.Pro839Ala) | |
22 | g.20425476G>T | CA410737929 | SCARF2 | c.2500C>A (p.Pro834Thr) c.2512C>A (p.Pro838Thr) c.2515C>A (p.Pro839Thr) | gnomAD v4 |
22 | g.20425477C>A | CA513694136 | SCARF2 | c.2499G>T (p.Ala833=) c.2511G>T (p.Ala837=) c.2514G>T (p.Ala838=) | dbSNP gnomAD v4 |
22 | g.20425477C= | CA2396362455 | SCARF2 | c.2499G= (p.Ala833=) c.2511G= (p.Ala837=) c.2514G= (p.Ala838=) | |
22 | g.20425477C>G | CA513694137 | SCARF2 | c.2499G>C (p.Ala833=) c.2511G>C (p.Ala837=) c.2514G>C (p.Ala838=) | gnomAD v4 |
22 | g.20425477C>T | CA513694135 | SCARF2 | c.2499G>A (p.Ala833=) c.2511G>A (p.Ala837=) c.2514G>A (p.Ala838=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425478del | CA2655397096 | SCARF2 | c.2498del (p.Ala833GlyfsTer?) c.2510del (p.Ala837GlyfsTer?) c.2513del (p.Ala838GlyfsTer?) | gnomAD v4 |
22 | g.20425478G>A | CA410737934 | SCARF2 | c.2498C>T (p.Ala833Val) c.2510C>T (p.Ala837Val) c.2513C>T (p.Ala838Val) | gnomAD v4 |
22 | g.20425478G>C | CA10112154 | SCARF2 | c.2498C>G (p.Ala833Gly) c.2510C>G (p.Ala837Gly) c.2513C>G (p.Ala838Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425478G= | CA2396362456 | SCARF2 | c.2498C= (p.Ala833=) c.2510C= (p.Ala837=) c.2513C= (p.Ala838=) | |
22 | g.20425478G>T | CA410737939 | SCARF2 | c.2498C>A (p.Ala833Glu) c.2510C>A (p.Ala837Glu) c.2513C>A (p.Ala838Glu) | gnomAD v4 |
22 | g.20425478_20425493del | CA2818417612 | SCARF2 | c.2483_2498del (p.Ala828GlyfsTer?) c.2495_2510del (p.Ala832GlyfsTer?) c.2498_2513del (p.Ala833GlyfsTer?) | |
22 | g.20425479C>A | CA410737943 | SCARF2 | c.2497G>T (p.Ala833Ser) c.2509G>T (p.Ala837Ser) c.2512G>T (p.Ala838Ser) | gnomAD v4 |
22 | g.20425479C= | CA2396362457 | SCARF2 | c.2497G= (p.Ala833=) c.2509G= (p.Ala837=) c.2512G= (p.Ala838=) | |
22 | g.20425479C>G | CA10112155 | SCARF2 | c.2497G>C (p.Ala833Pro) c.2509G>C (p.Ala837Pro) c.2512G>C (p.Ala838Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425479C>T | CA410737946 | SCARF2 | c.2497G>A (p.Ala833Thr) c.2509G>A (p.Ala837Thr) c.2512G>A (p.Ala838Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425480G>A | CA10112156 | SCARF2 | c.2496C>T (p.Pro832=) c.2508C>T (p.Pro836=) c.2511C>T (p.Pro837=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425480G>C | CA513694141 | SCARF2 | c.2496C>G (p.Pro832=) c.2508C>G (p.Pro836=) c.2511C>G (p.Pro837=) | gnomAD v4 |
22 | g.20425480G= | CA2396362458 | SCARF2 | c.2496C= (p.Pro832=) c.2508C= (p.Pro836=) c.2511C= (p.Pro837=) | |
22 | g.20425480G>T | CA513694140 | SCARF2 | c.2496C>A (p.Pro832=) c.2508C>A (p.Pro836=) c.2511C>A (p.Pro837=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425481G>A | CA410737953 | SCARF2 | c.2495C>T (p.Pro832Leu) c.2507C>T (p.Pro836Leu) c.2510C>T (p.Pro837Leu) | dbSNP gnomAD v4 |
22 | g.20425481G>C | CA410737956 | SCARF2 | c.2495C>G (p.Pro832Arg) c.2507C>G (p.Pro836Arg) c.2510C>G (p.Pro837Arg) | gnomAD v4 |
22 | g.20425481G= | CA2396362459 | SCARF2 | c.2495C= (p.Pro832=) c.2507C= (p.Pro836=) c.2510C= (p.Pro837=) | |
22 | g.20425481G>T | CA410737958 | SCARF2 | c.2495C>A (p.Pro832His) c.2507C>A (p.Pro836His) c.2510C>A (p.Pro837His) | gnomAD v4 |
22 | g.20425482G>A | CA410737962 | SCARF2 | c.2494C>T (p.Pro832Ser) c.2506C>T (p.Pro836Ser) c.2509C>T (p.Pro837Ser) | gnomAD v4 |
22 | g.20425482G>C | CA410737967 | SCARF2 | c.2494C>G (p.Pro832Ala) c.2506C>G (p.Pro836Ala) c.2509C>G (p.Pro837Ala) | gnomAD v4 |
22 | g.20425482G= | CA2396362460 | SCARF2 | c.2494C= (p.Pro832=) c.2506C= (p.Pro836=) c.2509C= (p.Pro837=) | |
22 | g.20425482G>T | CA410737965 | SCARF2 | c.2494C>A (p.Pro832Thr) c.2506C>A (p.Pro836Thr) c.2509C>A (p.Pro837Thr) | dbSNP gnomAD v4 |
22 | g.20425482_20425483insA | CA2577652135 | SCARF2 | c.2493_2494insT (p.Pro832SerfsTer4) c.2505_2506insT (p.Pro836SerfsTer4) c.2508_2509insT (p.Pro837SerfsTer4) | |
22 | g.20425483C>A | CA410737973 | SCARF2 | c.2493G>T (p.Leu831Phe) c.2505G>T (p.Leu835Phe) c.2508G>T (p.Leu836Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425483C= | CA2396362461 | SCARF2 | c.2493G= (p.Leu831=) c.2505G= (p.Leu835=) c.2508G= (p.Leu836=) | |
22 | g.20425483C>G | CA410737976 | SCARF2 | c.2493G>C (p.Leu831Phe) c.2505G>C (p.Leu835Phe) c.2508G>C (p.Leu836Phe) | gnomAD v4 |
22 | g.20425483C>T | CA513694143 | SCARF2 | c.2493G>A (p.Leu831=) c.2505G>A (p.Leu835=) c.2508G>A (p.Leu836=) | gnomAD v4 |
22 | g.20425484A>C | CA410737979 | SCARF2 | c.2492T>G (p.Leu831Trp) c.2504T>G (p.Leu835Trp) c.2507T>G (p.Leu836Trp) | gnomAD v4 |
22 | g.20425484A>G | CA410737981 | SCARF2 | c.2492T>C (p.Leu831Ser) c.2504T>C (p.Leu835Ser) c.2507T>C (p.Leu836Ser) | gnomAD v4 |
22 | g.20425484A>T | CA410737983 | SCARF2 | c.2492T>A (p.Leu831Ter) c.2504T>A (p.Leu835Ter) c.2507T>A (p.Leu836Ter) | |
22 | g.20425485del | CA2655397099 | SCARF2 | c.2492del (p.Leu831CysfsTer?) c.2504del (p.Leu835CysfsTer?) c.2507del (p.Leu836CysfsTer?) | gnomAD v4 |
22 | g.20425485A= | CA2396362462 | SCARF2 | c.2491T= (p.Leu831=) c.2503T= (p.Leu835=) c.2506T= (p.Leu836=) | |
22 | g.20425485A>C | CA410737985 | SCARF2 | c.2491T>G (p.Leu831Val) c.2503T>G (p.Leu835Val) c.2506T>G (p.Leu836Val) | gnomAD v4 |
22 | g.20425485A>G | CA513694144 | SCARF2 | c.2491T>C (p.Leu831=) c.2503T>C (p.Leu835=) c.2506T>C (p.Leu836=) | dbSNP gnomAD v4 |
22 | g.20425485A>T | CA410737987 | SCARF2 | c.2491T>A (p.Leu831Met) c.2503T>A (p.Leu835Met) c.2506T>A (p.Leu836Met) | gnomAD v4 |
22 | g.20425486G>A | CA513694146 | SCARF2 | c.2490C>T (p.Asp830=) c.2502C>T (p.Asp834=) c.2505C>T (p.Asp835=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425486G>C | CA322181942 | SCARF2 | c.2490C>G (p.Asp830Glu) c.2502C>G (p.Asp834Glu) c.2505C>G (p.Asp835Glu) | dbSNP gnomAD v4 |
22 | g.20425486G= | CA2396362463 | SCARF2 | c.2490C= (p.Asp830=) c.2502C= (p.Asp834=) c.2505C= (p.Asp835=) | |
22 | g.20425486G>T | CA410737993 | SCARF2 | c.2490C>A (p.Asp830Glu) c.2502C>A (p.Asp834Glu) c.2505C>A (p.Asp835Glu) | gnomAD v4 |
22 | g.20425487_20425513del | CA2655397101 | SCARF2 | c.2464_2490del (p.Pro822_Asp830del) c.2476_2502del (p.Pro826_Asp834del) c.2479_2505del (p.Pro827_Asp835del) | gnomAD v4 |
22 | g.20425487T>A | CA410737997 | SCARF2 | c.2489A>T (p.Asp830Val) c.2501A>T (p.Asp834Val) c.2504A>T (p.Asp835Val) | gnomAD v4 |
22 | g.20425487T>C | CA410737999 | SCARF2 | c.2489A>G (p.Asp830Gly) c.2501A>G (p.Asp834Gly) c.2504A>G (p.Asp835Gly) | gnomAD v4 |
22 | g.20425487T>G | CA410738003 | SCARF2 | c.2489A>C (p.Asp830Ala) c.2501A>C (p.Asp834Ala) c.2504A>C (p.Asp835Ala) | gnomAD v4 |
22 | g.20425495_20425524del | CA2655397102 | SCARF2 | c.2460_2489del (p.Glu820_Thr829del) c.2472_2501del (p.Glu824_Thr833del) c.2475_2504del (p.Glu825_Thr834del) | gnomAD v4 |
22 | g.20425488C>A | CA410738006 | SCARF2 | c.2488G>T (p.Asp830Tyr) c.2500G>T (p.Asp834Tyr) c.2503G>T (p.Asp835Tyr) | gnomAD v4 |
22 | g.20425488C= | CA2396362464 | SCARF2 | c.2488G= (p.Asp830=) c.2500G= (p.Asp834=) c.2503G= (p.Asp835=) | |
22 | g.20425488C>G | CA410738009 | SCARF2 | c.2488G>C (p.Asp830His) c.2500G>C (p.Asp834His) c.2503G>C (p.Asp835His) | gnomAD v4 |
22 | g.20425488C>T | CA10112157 | SCARF2 | c.2488G>A (p.Asp830Asn) c.2500G>A (p.Asp834Asn) c.2503G>A (p.Asp835Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425489G>A | CA513694149 | SCARF2 | c.2487C>T (p.Thr829=) c.2499C>T (p.Thr833=) c.2502C>T (p.Thr834=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425489G>C | CA513694148 | SCARF2 | c.2487C>G (p.Thr829=) c.2499C>G (p.Thr833=) c.2502C>G (p.Thr834=) | |
22 | g.20425489G= | CA2396362465 | SCARF2 | c.2487C= (p.Thr829=) c.2499C= (p.Thr833=) c.2502C= (p.Thr834=) | |
22 | g.20425489G>T | CA513694147 | SCARF2 | c.2487C>A (p.Thr829=) c.2499C>A (p.Thr833=) c.2502C>A (p.Thr834=) | gnomAD v4 |
22 | g.20425490G>A | CA410738014 | SCARF2 | c.2486C>T (p.Thr829Ile) c.2498C>T (p.Thr833Ile) c.2501C>T (p.Thr834Ile) | gnomAD v4 |
22 | g.20425490G>C | CA410738018 | SCARF2 | c.2486C>G (p.Thr829Ser) c.2498C>G (p.Thr833Ser) c.2501C>G (p.Thr834Ser) | |
22 | g.20425490G>T | CA410738017 | SCARF2 | c.2486C>A (p.Thr829Asn) c.2498C>A (p.Thr833Asn) c.2501C>A (p.Thr834Asn) | gnomAD v4 |
22 | g.20425491T>A | CA410738023 | SCARF2 | c.2485A>T (p.Thr829Ser) c.2497A>T (p.Thr833Ser) c.2500A>T (p.Thr834Ser) | gnomAD v4 |
22 | g.20425491T>C | CA410738025 | SCARF2 | c.2485A>G (p.Thr829Ala) c.2497A>G (p.Thr833Ala) c.2500A>G (p.Thr834Ala) | gnomAD v4 |
22 | g.20425491T>G | CA410738028 | SCARF2 | c.2485A>C (p.Thr829Pro) c.2497A>C (p.Thr833Pro) c.2500A>C (p.Thr834Pro) | |
22 | g.20425492C>A | CA513694155 | SCARF2 | c.2484G>T (p.Ala828=) c.2496G>T (p.Ala832=) c.2499G>T (p.Ala833=) | dbSNP gnomAD v4 |
22 | g.20425492C= | CA2396362466 | SCARF2 | c.2484G= (p.Ala828=) c.2496G= (p.Ala832=) c.2499G= (p.Ala833=) | |
22 | g.20425492C>G | CA513694153 | SCARF2 | c.2484G>C (p.Ala828=) c.2496G>C (p.Ala832=) c.2499G>C (p.Ala833=) | |
22 | g.20425492C>T | CA513694154 | SCARF2 | c.2484G>A (p.Ala828=) c.2496G>A (p.Ala832=) c.2499G>A (p.Ala833=) | gnomAD v4 |
22 | g.20425496_20425498del | CA2655397103 | SCARF2 | c.2482_2484del (p.Ala828del) c.2494_2496del (p.Ala832del) c.2497_2499del (p.Ala833del) | gnomAD v4 |
22 | g.20425493G>A | CA410738032 | SCARF2 | c.2483C>T (p.Ala828Val) c.2495C>T (p.Ala832Val) c.2498C>T (p.Ala833Val) | gnomAD v4 |
22 | g.20425493G>C | CA410738034 | SCARF2 | c.2483C>G (p.Ala828Gly) c.2495C>G (p.Ala832Gly) c.2498C>G (p.Ala833Gly) | gnomAD v4 |
22 | g.20425493G= | CA2396362467 | SCARF2 | c.2483C= (p.Ala828=) c.2495C= (p.Ala832=) c.2498C= (p.Ala833=) | |
22 | g.20425493G>T | CA10112158 | SCARF2 | c.2483C>A (p.Ala828Glu) c.2495C>A (p.Ala832Glu) c.2498C>A (p.Ala833Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425494C>A | CA410738041 | SCARF2 | c.2482G>T (p.Ala828Ser) c.2494G>T (p.Ala832Ser) c.2497G>T (p.Ala833Ser) | gnomAD v4 |
22 | g.20425494C= | CA2396362468 | SCARF2 | c.2482G= (p.Ala828=) c.2494G= (p.Ala832=) c.2497G= (p.Ala833=) | |
22 | g.20425494C>G | CA410738045 | SCARF2 | c.2482G>C (p.Ala828Pro) c.2494G>C (p.Ala832Pro) c.2497G>C (p.Ala833Pro) | |
22 | g.20425494C>T | CA410738047 | SCARF2 | c.2482G>A (p.Ala828Thr) c.2494G>A (p.Ala832Thr) c.2497G>A (p.Ala833Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425495C>A | CA513694158 | SCARF2 | c.2481G>T (p.Ala827=) c.2493G>T (p.Ala831=) c.2496G>T (p.Ala832=) | gnomAD v4 |
22 | g.20425495C= | CA2396362469 | SCARF2 | c.2481G= (p.Ala827=) c.2493G= (p.Ala831=) c.2496G= (p.Ala832=) | |
22 | g.20425495C>G | CA513694157 | SCARF2 | c.2481G>C (p.Ala827=) c.2493G>C (p.Ala831=) c.2496G>C (p.Ala832=) | gnomAD v4 |
22 | g.20425495C>T | CA10112159 | SCARF2 | c.2481G>A (p.Ala827=) c.2493G>A (p.Ala831=) c.2496G>A (p.Ala832=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425496G>A | CA410738061 | SCARF2 | c.2480C>T (p.Ala827Val) c.2492C>T (p.Ala831Val) c.2495C>T (p.Ala832Val) | gnomAD v4 |
22 | g.20425496G>C | CA410738057 | SCARF2 | c.2480C>G (p.Ala827Gly) c.2492C>G (p.Ala831Gly) c.2495C>G (p.Ala832Gly) | gnomAD v4 |
22 | g.20425496G>T | CA410738053 | SCARF2 | c.2480C>A (p.Ala827Glu) c.2492C>A (p.Ala831Glu) c.2495C>A (p.Ala832Glu) | gnomAD v4 |
22 | g.20425497C>A | CA410738064 | SCARF2 | c.2479G>T (p.Ala827Ser) c.2491G>T (p.Ala831Ser) c.2494G>T (p.Ala832Ser) | gnomAD v4 |
22 | g.20425497C>G | CA410738068 | SCARF2 | c.2479G>C (p.Ala827Pro) c.2491G>C (p.Ala831Pro) c.2494G>C (p.Ala832Pro) | gnomAD v4 |
22 | g.20425497C>T | CA410738070 | SCARF2 | c.2479G>A (p.Ala827Thr) c.2491G>A (p.Ala831Thr) c.2494G>A (p.Ala832Thr) | gnomAD v4 |
22 | g.20425497_20425510del | CA2818417613 | SCARF2 | c.2466_2479del (p.Pro824AspfsTer7) c.2478_2491del (p.Pro828AspfsTer7) c.2481_2494del (p.Pro829AspfsTer7) | |
22 | g.20425498C>A | CA410738073 | SCARF2 | c.2478G>T (p.Lys826Asn) c.2490G>T (p.Lys830Asn) c.2493G>T (p.Lys831Asn) | gnomAD v4 |
22 | g.20425498C= | CA2396362470 | SCARF2 | c.2478G= (p.Lys826=) c.2490G= (p.Lys830=) c.2493G= (p.Lys831=) | |
22 | g.20425498C>G | CA410738076 | SCARF2 | c.2478G>C (p.Lys826Asn) c.2490G>C (p.Lys830Asn) c.2493G>C (p.Lys831Asn) | |
22 | g.20425498C>T | CA513694160 | SCARF2 | c.2478G>A (p.Lys826=) c.2490G>A (p.Lys830=) c.2493G>A (p.Lys831=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425499T>A | CA410738079 | SCARF2 | c.2477A>T (p.Lys826Met) c.2489A>T (p.Lys830Met) c.2492A>T (p.Lys831Met) | gnomAD v4 |
22 | g.20425499T>C | CA410738082 | SCARF2 | c.2477A>G (p.Lys826Arg) c.2489A>G (p.Lys830Arg) c.2492A>G (p.Lys831Arg) | gnomAD v4 |
22 | g.20425499T>G | CA410738083 | SCARF2 | c.2477A>C (p.Lys826Thr) c.2489A>C (p.Lys830Thr) c.2492A>C (p.Lys831Thr) | gnomAD v4 |
22 | g.20425500del | CA2655397104 | SCARF2 | c.2477del (p.Lys826ArgfsTer?) c.2489del (p.Lys830ArgfsTer?) c.2492del (p.Lys831ArgfsTer?) | gnomAD v4 |
22 | g.20425500T>A | CA410738087 | SCARF2 | c.2476A>T (p.Lys826Ter) c.2488A>T (p.Lys830Ter) c.2491A>T (p.Lys831Ter) | |
22 | g.20425500T>C | CA410738090 | SCARF2 | c.2476A>G (p.Lys826Glu) c.2488A>G (p.Lys830Glu) c.2491A>G (p.Lys831Glu) | gnomAD v4 |
22 | g.20425500T>G | CA410738093 | SCARF2 | c.2476A>C (p.Lys826Gln) c.2488A>C (p.Lys830Gln) c.2491A>C (p.Lys831Gln) | gnomAD v4 |
22 | g.20425501C>A | CA10112160 | SCARF2 | c.2475G>T (p.Glu825Asp) c.2487G>T (p.Glu829Asp) c.2490G>T (p.Glu830Asp) | dbSNP ExAC gnomAD v4 |
22 | g.20425501C= | CA2396362471 | SCARF2 | c.2475G= (p.Glu825=) c.2487G= (p.Glu829=) c.2490G= (p.Glu830=) | |
22 | g.20425501C>G | CA410738096 | SCARF2 | c.2475G>C (p.Glu825Asp) c.2487G>C (p.Glu829Asp) c.2490G>C (p.Glu830Asp) | gnomAD v4 |
22 | g.20425501C>T | CA513694162 | SCARF2 | c.2475G>A (p.Glu825=) c.2487G>A (p.Glu829=) c.2490G>A (p.Glu830=) | gnomAD v4 |
22 | g.20425502T>A | CA10112161 | SCARF2 | c.2474A>T (p.Glu825Val) c.2486A>T (p.Glu829Val) c.2489A>T (p.Glu830Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425502T>C | CA10112162 | SCARF2 | c.2474A>G (p.Glu825Gly) c.2486A>G (p.Glu829Gly) c.2489A>G (p.Glu830Gly) | dbSNP ExAC gnomAD v4 |
22 | g.20425502T>G | CA410738099 | SCARF2 | c.2474A>C (p.Glu825Ala) c.2486A>C (p.Glu829Ala) c.2489A>C (p.Glu830Ala) | gnomAD v4 |
22 | g.20425502T= | CA2396362472 | SCARF2 | c.2474A= (p.Glu825=) c.2486A= (p.Glu829=) c.2489A= (p.Glu830=) | |
22 | g.20425503C>A | CA410738102 | SCARF2 | c.2473G>T (p.Glu825Ter) c.2485G>T (p.Glu829Ter) c.2488G>T (p.Glu830Ter) | gnomAD v4 |
22 | g.20425503C= | CA2396362473 | SCARF2 | c.2473G= (p.Glu825=) c.2485G= (p.Glu829=) c.2488G= (p.Glu830=) | |
22 | g.20425503C>G | CA410738103 | SCARF2 | c.2473G>C (p.Glu825Gln) c.2485G>C (p.Glu829Gln) c.2488G>C (p.Glu830Gln) | |
22 | g.20425503C>T | CA10112163 | SCARF2 | c.2473G>A (p.Glu825Lys) c.2485G>A (p.Glu829Lys) c.2488G>A (p.Glu830Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425504A= | CA2396362474 | SCARF2 | c.2472T= (p.Pro824=) c.2484T= (p.Pro828=) c.2487T= (p.Pro829=) | |
22 | g.20425504A>C | CA513694164 | SCARF2 | c.2472T>G (p.Pro824=) c.2484T>G (p.Pro828=) c.2487T>G (p.Pro829=) | gnomAD v4 |
22 | g.20425504A>G | CA513694165 | SCARF2 | c.2472T>C (p.Pro824=) c.2484T>C (p.Pro828=) c.2487T>C (p.Pro829=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425504A>T | CA513694166 | SCARF2 | c.2472T>A (p.Pro824=) c.2484T>A (p.Pro828=) c.2487T>A (p.Pro829=) | gnomAD v4 |
22 | g.20425505G>A | CA410738106 | SCARF2 | c.2471C>T (p.Pro824Leu) c.2483C>T (p.Pro828Leu) c.2486C>T (p.Pro829Leu) | gnomAD v4 |
22 | g.20425505G>C | CA410738110 | SCARF2 | c.2471C>G (p.Pro824Arg) c.2483C>G (p.Pro828Arg) c.2486C>G (p.Pro829Arg) | |
22 | g.20425505G>T | CA410738112 | SCARF2 | c.2471C>A (p.Pro824His) c.2483C>A (p.Pro828His) c.2486C>A (p.Pro829His) | gnomAD v4 |
22 | g.20425506G>A | CA410738116 | SCARF2 | c.2470C>T (p.Pro824Ser) c.2482C>T (p.Pro828Ser) c.2485C>T (p.Pro829Ser) | dbSNP gnomAD v4 |
22 | g.20425506G>C | CA410738117 | SCARF2 | c.2470C>G (p.Pro824Ala) c.2482C>G (p.Pro828Ala) c.2485C>G (p.Pro829Ala) | gnomAD v4 |
22 | g.20425506G= | CA2396362475 | SCARF2 | c.2470C= (p.Pro824=) c.2482C= (p.Pro828=) c.2485C= (p.Pro829=) | |
22 | g.20425506G>T | CA410738118 | SCARF2 | c.2470C>A (p.Pro824Thr) c.2482C>A (p.Pro828Thr) c.2485C>A (p.Pro829Thr) | gnomAD v4 |
22 | g.20425507C>A | CA10112165 | SCARF2 | c.2469G>T (p.Gly823=) c.2481G>T (p.Gly827=) c.2484G>T (p.Gly828=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425507C= | CA2396362476 | SCARF2 | c.2469G= (p.Gly823=) c.2481G= (p.Gly827=) c.2484G= (p.Gly828=) | |
22 | g.20425507C>G | CA513694168 | SCARF2 | c.2469G>C (p.Gly823=) c.2481G>C (p.Gly827=) c.2484G>C (p.Gly828=) | gnomAD v4 |
22 | g.20425507C>T | CA10112164 | SCARF2 | c.2469G>A (p.Gly823=) c.2481G>A (p.Gly827=) c.2484G>A (p.Gly828=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425510del | CA2655397106 | SCARF2 | c.2469del (p.Pro824LeufsTer?) c.2481del (p.Pro828LeufsTer?) c.2484del (p.Pro829LeufsTer?) | gnomAD v4 |
22 | g.20425508C>A | CA410738133 | SCARF2 | c.2468G>T (p.Gly823Val) c.2480G>T (p.Gly827Val) c.2483G>T (p.Gly828Val) | gnomAD v4 |
22 | g.20425508C>G | CA410738131 | SCARF2 | c.2468G>C (p.Gly823Ala) c.2480G>C (p.Gly827Ala) c.2483G>C (p.Gly828Ala) | gnomAD v4 |
22 | g.20425508C>T | CA410738128 | SCARF2 | c.2468G>A (p.Gly823Glu) c.2480G>A (p.Gly827Glu) c.2483G>A (p.Gly828Glu) | dbSNP gnomAD v4 |
22 | g.20425509C>A | CA410738136 | SCARF2 | c.2467G>T (p.Gly823Trp) c.2479G>T (p.Gly827Trp) c.2482G>T (p.Gly828Trp) | gnomAD v4 |
22 | g.20425509C>G | CA410738141 | SCARF2 | c.2467G>C (p.Gly823Arg) c.2479G>C (p.Gly827Arg) c.2482G>C (p.Gly828Arg) | |
22 | g.20425509C>T | CA410738138 | SCARF2 | c.2467G>A (p.Gly823Arg) c.2479G>A (p.Gly827Arg) c.2482G>A (p.Gly828Arg) | gnomAD v4 |
22 | g.20425510C>A | CA513694171 | SCARF2 | c.2466G>T (p.Pro822=) c.2478G>T (p.Pro826=) c.2481G>T (p.Pro827=) | dbSNP gnomAD v4 |
22 | g.20425510C= | CA2396362477 | SCARF2 | c.2466G= (p.Pro822=) c.2478G= (p.Pro826=) c.2481G= (p.Pro827=) | |
22 | g.20425510C>G | CA513694170 | SCARF2 | c.2466G>C (p.Pro822=) c.2478G>C (p.Pro826=) c.2481G>C (p.Pro827=) | gnomAD v4 |
22 | g.20425510C>T | CA513694172 | SCARF2 | c.2466G>A (p.Pro822=) c.2478G>A (p.Pro826=) c.2481G>A (p.Pro827=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425511G>A | CA410738144 | SCARF2 | c.2465C>T (p.Pro822Leu) c.2477C>T (p.Pro826Leu) c.2480C>T (p.Pro827Leu) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425511G>C | CA410738149 | SCARF2 | c.2465C>G (p.Pro822Arg) c.2477C>G (p.Pro826Arg) c.2480C>G (p.Pro827Arg) | gnomAD v4 |
22 | g.20425511G= | CA2396362478 | SCARF2 | c.2465C= (p.Pro822=) c.2477C= (p.Pro826=) c.2480C= (p.Pro827=) | |
22 | g.20425511G>T | CA410738147 | SCARF2 | c.2465C>A (p.Pro822Gln) c.2477C>A (p.Pro826Gln) c.2480C>A (p.Pro827Gln) | gnomAD v4 |
22 | g.20425514dup | CA2842690066 | SCARF2 | c.2465dup (p.Pro824AlafsTer2) c.2477dup (p.Pro828AlafsTer2) c.2480dup (p.Pro829AlafsTer2) | |
22 | g.20425514del | CA2655397108 | SCARF2 | c.2465del (p.Pro822ArgfsTer?) c.2477del (p.Pro826ArgfsTer?) c.2480del (p.Pro827ArgfsTer?) | gnomAD v4 |
22 | g.20425512G>A | CA410738152 | SCARF2 | c.2464C>T (p.Pro822Ser) c.2476C>T (p.Pro826Ser) c.2479C>T (p.Pro827Ser) | gnomAD v4 |
22 | g.20425512G>C | CA410738154 | SCARF2 | c.2464C>G (p.Pro822Ala) c.2476C>G (p.Pro826Ala) c.2479C>G (p.Pro827Ala) | gnomAD v4 |
22 | g.20425512G>T | CA410738153 | SCARF2 | c.2464C>A (p.Pro822Thr) c.2476C>A (p.Pro826Thr) c.2479C>A (p.Pro827Thr) | gnomAD v4 |
22 | g.20425513G>A | CA10112166 | SCARF2 | c.2463C>T (p.Thr821=) c.2475C>T (p.Thr825=) c.2478C>T (p.Thr826=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425513G>C | CA513694173 | SCARF2 | c.2463C>G (p.Thr821=) c.2475C>G (p.Thr825=) c.2478C>G (p.Thr826=) | |
22 | g.20425513G= | CA2396362479 | SCARF2 | c.2463C= (p.Thr821=) c.2475C= (p.Thr825=) c.2478C= (p.Thr826=) | |
22 | g.20425513G>T | CA513694174 | SCARF2 | c.2463C>A (p.Thr821=) c.2475C>A (p.Thr825=) c.2478C>A (p.Thr826=) | dbSNP gnomAD v4 |
22 | g.20425514G>A | CA410738157 | SCARF2 | c.2462C>T (p.Thr821Ile) c.2474C>T (p.Thr825Ile) c.2477C>T (p.Thr826Ile) | gnomAD v4 |
22 | g.20425514G>C | CA410738159 | SCARF2 | c.2462C>G (p.Thr821Ser) c.2474C>G (p.Thr825Ser) c.2477C>G (p.Thr826Ser) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425514G= | CA2396362480 | SCARF2 | c.2462C= (p.Thr821=) c.2474C= (p.Thr825=) c.2477C= (p.Thr826=) | |
22 | g.20425514G>T | CA410738166 | SCARF2 | c.2462C>A (p.Thr821Asn) c.2474C>A (p.Thr825Asn) c.2477C>A (p.Thr826Asn) | gnomAD v4 |
22 | g.20425515T>A | CA410738176 | SCARF2 | c.2461A>T (p.Thr821Ser) c.2473A>T (p.Thr825Ser) c.2476A>T (p.Thr826Ser) | |
22 | g.20425515T>C | CA410738178 | SCARF2 | c.2461A>G (p.Thr821Ala) c.2473A>G (p.Thr825Ala) c.2476A>G (p.Thr826Ala) | gnomAD v4 |
22 | g.20425515T>G | CA410738181 | SCARF2 | c.2461A>C (p.Thr821Pro) c.2473A>C (p.Thr825Pro) c.2476A>C (p.Thr826Pro) | gnomAD v3 gnomAD v4 |
22 | g.20425517del | CA2655397111 | SCARF2 | c.2461del (p.Thr821ProfsTer?) c.2473del (p.Thr825ProfsTer?) c.2476del (p.Thr826ProfsTer?) | gnomAD v4 |
22 | g.20425516T>A | CA410738184 | SCARF2 | c.2460A>T (p.Glu820Asp) c.2472A>T (p.Glu824Asp) c.2475A>T (p.Glu825Asp) | |
22 | g.20425516T>C | CA513694176 | SCARF2 | c.2460A>G (p.Glu820=) c.2472A>G (p.Glu824=) c.2475A>G (p.Glu825=) | gnomAD v4 |
22 | g.20425516T>G | CA410738187 | SCARF2 | c.2460A>C (p.Glu820Asp) c.2472A>C (p.Glu824Asp) c.2475A>C (p.Glu825Asp) | gnomAD v3 gnomAD v4 |
22 | g.20425517T>A | CA410738192 | SCARF2 | c.2459A>T (p.Glu820Val) c.2471A>T (p.Glu824Val) c.2474A>T (p.Glu825Val) | |
22 | g.20425517T>C | CA410738196 | SCARF2 | c.2459A>G (p.Glu820Gly) c.2471A>G (p.Glu824Gly) c.2474A>G (p.Glu825Gly) | gnomAD v4 |
22 | g.20425517T>G | CA410738199 | SCARF2 | c.2459A>C (p.Glu820Ala) c.2471A>C (p.Glu824Ala) c.2474A>C (p.Glu825Ala) | |
22 | g.20425518C>A | CA410738203 | SCARF2 | c.2458G>T (p.Glu820Ter) c.2470G>T (p.Glu824Ter) c.2473G>T (p.Glu825Ter) | gnomAD v4 |
22 | g.20425518C= | CA2396362481 | SCARF2 | c.2458G= (p.Glu820=) c.2470G= (p.Glu824=) c.2473G= (p.Glu825=) | |
22 | g.20425518C>G | CA410738207 | SCARF2 | c.2458G>C (p.Glu820Gln) c.2470G>C (p.Glu824Gln) c.2473G>C (p.Glu825Gln) | gnomAD v4 |
22 | g.20425518C>T | CA410738205 | SCARF2 | c.2458G>A (p.Glu820Lys) c.2470G>A (p.Glu824Lys) c.2473G>A (p.Glu825Lys) | dbSNP gnomAD v4 |
22 | g.20425519G>A | CA10112167 | SCARF2 | c.2457C>T (p.Thr819=) c.2469C>T (p.Thr823=) c.2472C>T (p.Thr824=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425519G>C | CA10112168 | SCARF2 | c.2457C>G (p.Thr819=) c.2469C>G (p.Thr823=) c.2472C>G (p.Thr824=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425519G= | CA2396362482 | SCARF2 | c.2457C= (p.Thr819=) c.2469C= (p.Thr823=) c.2472C= (p.Thr824=) | |
22 | g.20425519G>T | CA513694180 | SCARF2 | c.2457C>A (p.Thr819=) c.2469C>A (p.Thr823=) c.2472C>A (p.Thr824=) | gnomAD v4 |
22 | g.20425520G>A | CA410738216 | SCARF2 | c.2456C>T (p.Thr819Ile) c.2468C>T (p.Thr823Ile) c.2471C>T (p.Thr824Ile) | gnomAD v4 |
22 | g.20425520G>C | CA410738219 | SCARF2 | c.2456C>G (p.Thr819Ser) c.2468C>G (p.Thr823Ser) c.2471C>G (p.Thr824Ser) | gnomAD v4 |
22 | g.20425520G>T | CA410738220 | SCARF2 | c.2456C>A (p.Thr819Asn) c.2468C>A (p.Thr823Asn) c.2471C>A (p.Thr824Asn) | gnomAD v4 |
22 | g.20425521T>A | CA410738221 | SCARF2 | c.2455A>T (p.Thr819Ser) c.2467A>T (p.Thr823Ser) c.2470A>T (p.Thr824Ser) | gnomAD v4 |
22 | g.20425521T>C | CA410738222 | SCARF2 | c.2455A>G (p.Thr819Ala) c.2467A>G (p.Thr823Ala) c.2470A>G (p.Thr824Ala) | gnomAD v4 |
22 | g.20425521T>G | CA410738224 | SCARF2 | c.2455A>C (p.Thr819Pro) c.2467A>C (p.Thr823Pro) c.2470A>C (p.Thr824Pro) | |
22 | g.20425522C>A | CA322182013 | SCARF2 | c.2454G>T (p.Ala818=) c.2466G>T (p.Ala822=) c.2469G>T (p.Ala823=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425522C= | CA2396362483 | SCARF2 | c.2454G= (p.Ala818=) c.2466G= (p.Ala822=) c.2469G= (p.Ala823=) | |
22 | g.20425522C>G | CA513694182 | SCARF2 | c.2454G>C (p.Ala818=) c.2466G>C (p.Ala822=) c.2469G>C (p.Ala823=) | |
22 | g.20425522C>T | CA10112169 | SCARF2 | c.2454G>A (p.Ala818=) c.2466G>A (p.Ala822=) c.2469G>A (p.Ala823=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425523G>A | CA410738228 | SCARF2 | c.2453C>T (p.Ala818Val) c.2465C>T (p.Ala822Val) c.2468C>T (p.Ala823Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425523G>C | CA322182021 | SCARF2 | c.2453C>G (p.Ala818Gly) c.2465C>G (p.Ala822Gly) c.2468C>G (p.Ala823Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425523G= | CA2396362484 | SCARF2 | c.2453C= (p.Ala818=) c.2465C= (p.Ala822=) c.2468C= (p.Ala823=) | |
22 | g.20425523G>T | CA410738226 | SCARF2 | c.2453C>A (p.Ala818Glu) c.2465C>A (p.Ala822Glu) c.2468C>A (p.Ala823Glu) | gnomAD v4 |
22 | g.20425524C>A | CA410738234 | SCARF2 | c.2452G>T (p.Ala818Ser) c.2464G>T (p.Ala822Ser) c.2467G>T (p.Ala823Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425524C= | CA2396362486 | SCARF2 | c.2452G= (p.Ala818=) c.2464G= (p.Ala822=) c.2467G= (p.Ala823=) | |
22 | g.20425524C>G | CA410738236 | SCARF2 | c.2452G>C (p.Ala818Pro) c.2464G>C (p.Ala822Pro) c.2467G>C (p.Ala823Pro) | |
22 | g.20425524C>T | CA410738238 | SCARF2 | c.2452G>A (p.Ala818Thr) c.2464G>A (p.Ala822Thr) c.2467G>A (p.Ala823Thr) | gnomAD v4 |
22 | g.20425524_20425575delinsCTGGGGGCGCGCGGGCGGGCGAGGCTGGCGGCACGGAGCGCTTGGCTTTCTG | CA2396362485 | SCARF2 | c.2401_2452delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln801=) c.2413_2464delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln805=) c.2416_2467delinsCAGAAAGCCAAGCGCTCCGTGCCGCCAGCCTCGCCCGCCCGCGCGCCCCCAG (p.Gln806=) | |
22 | g.20425525T>A | CA513694186 | SCARF2 | c.2451A>T (p.Pro817=) c.2463A>T (p.Pro821=) c.2466A>T (p.Pro822=) | gnomAD v4 |
22 | g.20425525T>C | CA513694185 | SCARF2 | c.2451A>G (p.Pro817=) c.2463A>G (p.Pro821=) c.2466A>G (p.Pro822=) | gnomAD v4 |
22 | g.20425525T>G | CA513694184 | SCARF2 | c.2451A>C (p.Pro817=) c.2463A>C (p.Pro821=) c.2466A>C (p.Pro822=) | gnomAD v3 gnomAD v4 |
22 | g.20425525_20425526delinsTG | CA2396362487 | SCARF2 | c.2450_2451delinsCA (p.Pro817=) c.2462_2463delinsCA (p.Pro821=) c.2465_2466delinsCA (p.Pro822=) | |
22 | g.20425534_20425584del | CA638940757 | SCARF2 | c.2401_2451del (p.Gln801_Pro817del) c.2413_2463del (p.Gln805_Pro821del) c.2416_2466del (p.Gln806_Pro822del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425526G>A | CA410738240 | SCARF2 | c.2450C>T (p.Pro817Leu) c.2462C>T (p.Pro821Leu) c.2465C>T (p.Pro822Leu) | gnomAD v4 |
22 | g.20425526G>C | CA410738242 | SCARF2 | c.2450C>G (p.Pro817Arg) c.2462C>G (p.Pro821Arg) c.2465C>G (p.Pro822Arg) | |
22 | g.20425526G= | CA2396362488 | SCARF2 | c.2450C= (p.Pro817=) c.2462C= (p.Pro821=) c.2465C= (p.Pro822=) | |
22 | g.20425526G>T | CA10112170 | SCARF2 | c.2450C>A (p.Pro817Gln) c.2462C>A (p.Pro821Gln) c.2465C>A (p.Pro822Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425530dup | CA638940759 | SCARF2 | c.2450dup (p.Ala818SerfsTer8) c.2462dup (p.Ala822SerfsTer8) c.2465dup (p.Ala823SerfsTer8) | gnomAD v2 gnomAD v4 |
22 | g.20425530del | CA638940758 | SCARF2 | c.2450del (p.Pro817GlnfsTer?) c.2462del (p.Pro821GlnfsTer?) c.2465del (p.Pro822GlnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425527G>A | CA410738250 | SCARF2 | c.2449C>T (p.Pro817Ser) c.2461C>T (p.Pro821Ser) c.2464C>T (p.Pro822Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425527G>C | CA410738251 | SCARF2 | c.2449C>G (p.Pro817Ala) c.2461C>G (p.Pro821Ala) c.2464C>G (p.Pro822Ala) | gnomAD v4 |
22 | g.20425527G= | CA2396362489 | SCARF2 | c.2449C= (p.Pro817=) c.2461C= (p.Pro821=) c.2464C= (p.Pro822=) | |
22 | g.20425527G>T | CA410738254 | SCARF2 | c.2449C>A (p.Pro817Thr) c.2461C>A (p.Pro821Thr) c.2464C>A (p.Pro822Thr) | gnomAD v4 |
22 | g.20425528G>A | CA322182036 | SCARF2 | c.2448C>T (p.Pro816=) c.2460C>T (p.Pro820=) c.2463C>T (p.Pro821=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425528G>C | CA513694189 | SCARF2 | c.2448C>G (p.Pro816=) c.2460C>G (p.Pro820=) c.2463C>G (p.Pro821=) | |
22 | g.20425528G= | CA2396362490 | SCARF2 | c.2448C= (p.Pro816=) c.2460C= (p.Pro820=) c.2463C= (p.Pro821=) | |
22 | g.20425528G>T | CA513694188 | SCARF2 | c.2448C>A (p.Pro816=) c.2460C>A (p.Pro820=) c.2463C>A (p.Pro821=) | gnomAD v4 |
22 | g.20425533_20425540del | CA2655397112 | SCARF2 | c.2441_2448del (p.Arg814ProfsTer9) c.2453_2460del (p.Arg818ProfsTer9) c.2456_2463del (p.Arg819ProfsTer9) | gnomAD v4 |
22 | g.20425529G>A | CA410738257 | SCARF2 | c.2447C>T (p.Pro816Leu) c.2459C>T (p.Pro820Leu) c.2462C>T (p.Pro821Leu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425529G>C | CA410738258 | SCARF2 | c.2447C>G (p.Pro816Arg) c.2459C>G (p.Pro820Arg) c.2462C>G (p.Pro821Arg) | |
22 | g.20425529G= | CA2396362491 | SCARF2 | c.2447C= (p.Pro816=) c.2459C= (p.Pro820=) c.2462C= (p.Pro821=) | |
22 | g.20425529G>T | CA410738260 | SCARF2 | c.2447C>A (p.Pro816His) c.2459C>A (p.Pro820His) c.2462C>A (p.Pro821His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425530G>A | CA10112171 | SCARF2 | c.2446C>T (p.Pro816Ser) c.2458C>T (p.Pro820Ser) c.2461C>T (p.Pro821Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425530G>C | CA410738263 | SCARF2 | c.2446C>G (p.Pro816Ala) c.2458C>G (p.Pro820Ala) c.2461C>G (p.Pro821Ala) | |
22 | g.20425530G= | CA2396362492 | SCARF2 | c.2446C= (p.Pro816=) c.2458C= (p.Pro820=) c.2461C= (p.Pro821=) | |
22 | g.20425530G>T | CA410738264 | SCARF2 | c.2446C>A (p.Pro816Thr) c.2458C>A (p.Pro820Thr) c.2461C>A (p.Pro821Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425531_20425532insCCGC | CA2655397114 | SCARF2 | c.2446_2447insGGGC (p.Pro816ArgfsTer11) c.2458_2459insGGGC (p.Pro820ArgfsTer11) c.2461_2462insGGGC (p.Pro821ArgfsTer11) | gnomAD v4 |
22 | g.20425531C>A | CA513694362 | SCARF2 | c.2445G>T (p.Ala815=) c.2457G>T (p.Ala819=) c.2460G>T (p.Ala820=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425531C= | CA2396362493 | SCARF2 | c.2445G= (p.Ala815=) c.2457G= (p.Ala819=) c.2460G= (p.Ala820=) | |
22 | g.20425531C>G | CA513694366 | SCARF2 | c.2445G>C (p.Ala815=) c.2457G>C (p.Ala819=) c.2460G>C (p.Ala820=) | gnomAD v4 |
22 | g.20425531C>T | CA513694367 | SCARF2 | c.2445G>A (p.Ala815=) c.2457G>A (p.Ala819=) c.2460G>A (p.Ala820=) | gnomAD v4 |
22 | g.20425532del | CA2838728410 | SCARF2 | c.2444del (p.Ala815GlyfsTer?) c.2456del (p.Ala819GlyfsTer?) c.2459del (p.Ala820GlyfsTer?) | |
22 | g.20425532G>A | CA410738268 | SCARF2 | c.2444C>T (p.Ala815Val) c.2456C>T (p.Ala819Val) c.2459C>T (p.Ala820Val) | gnomAD v4 |
22 | g.20425532G>C | CA10112172 | SCARF2 | c.2444C>G (p.Ala815Gly) c.2456C>G (p.Ala819Gly) c.2459C>G (p.Ala820Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425532G= | CA2396362494 | SCARF2 | c.2444C= (p.Ala815=) c.2456C= (p.Ala819=) c.2459C= (p.Ala820=) | |
22 | g.20425532G>T | CA10112173 | SCARF2 | c.2444C>A (p.Ala815Glu) c.2456C>A (p.Ala819Glu) c.2459C>A (p.Ala820Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425533C>A | CA410738273 | SCARF2 | c.2443G>T (p.Ala815Ser) c.2455G>T (p.Ala819Ser) c.2458G>T (p.Ala820Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425533C= | CA2396362495 | SCARF2 | c.2443G= (p.Ala815=) c.2455G= (p.Ala819=) c.2458G= (p.Ala820=) | |
22 | g.20425533C>G | CA410738274 | SCARF2 | c.2443G>C (p.Ala815Pro) c.2455G>C (p.Ala819Pro) c.2458G>C (p.Ala820Pro) | |
22 | g.20425533C>T | CA410738276 | SCARF2 | c.2443G>A (p.Ala815Thr) c.2455G>A (p.Ala819Thr) c.2458G>A (p.Ala820Thr) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.20425534G>A | CA513694378 | SCARF2 | c.2442C>T (p.Arg814=) c.2454C>T (p.Arg818=) c.2457C>T (p.Arg819=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425534G>C | CA513694381 | SCARF2 | c.2442C>G (p.Arg814=) c.2454C>G (p.Arg818=) c.2457C>G (p.Arg819=) | gnomAD v4 |
22 | g.20425534G= | CA2396362496 | SCARF2 | c.2442C= (p.Arg814=) c.2454C= (p.Arg818=) c.2457C= (p.Arg819=) | |
22 | g.20425534G>T | CA513694383 | SCARF2 | c.2442C>A (p.Arg814=) c.2454C>A (p.Arg818=) c.2457C>A (p.Arg819=) | dbSNP gnomAD v4 |
22 | g.20425541_20425544del | CA2655397115 | SCARF2 | c.2439_2442del (p.Ala815ProfsTer?) c.2451_2454del (p.Ala819ProfsTer?) c.2454_2457del (p.Ala820ProfsTer?) | gnomAD v4 |
22 | g.20425535C>A | CA410738278 | SCARF2 | c.2441G>T (p.Arg814Leu) c.2453G>T (p.Arg818Leu) c.2456G>T (p.Arg819Leu) | gnomAD v4 |
22 | g.20425535C= | CA2396362497 | SCARF2 | c.2441G= (p.Arg814=) c.2453G= (p.Arg818=) c.2456G= (p.Arg819=) | |
22 | g.20425535C>G | CA410738280 | SCARF2 | c.2441G>C (p.Arg814Pro) c.2453G>C (p.Arg818Pro) c.2456G>C (p.Arg819Pro) | gnomAD v4 |
22 | g.20425535C>T | CA410738281 | SCARF2 | c.2441G>A (p.Arg814His) c.2453G>A (p.Arg818His) c.2456G>A (p.Arg819His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425536G>A | CA410738283 | SCARF2 | c.2440C>T (p.Arg814Cys) c.2452C>T (p.Arg818Cys) c.2455C>T (p.Arg819Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425536G>C | CA410738284 | SCARF2 | c.2440C>G (p.Arg814Gly) c.2452C>G (p.Arg818Gly) c.2455C>G (p.Arg819Gly) | gnomAD v4 |
22 | g.20425536G= | CA2396362498 | SCARF2 | c.2440C= (p.Arg814=) c.2452C= (p.Arg818=) c.2455C= (p.Arg819=) | |
22 | g.20425536G>T | CA10112174 | SCARF2 | c.2440C>A (p.Arg814Ser) c.2452C>A (p.Arg818Ser) c.2455C>A (p.Arg819Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425537G>A | CA513694388 | SCARF2 | c.2439C>T (p.Ala813=) c.2451C>T (p.Ala817=) c.2454C>T (p.Ala818=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425537G>C | CA513694389 | SCARF2 | c.2439C>G (p.Ala813=) c.2451C>G (p.Ala817=) c.2454C>G (p.Ala818=) | gnomAD v4 |
22 | g.20425537G= | CA2396362499 | SCARF2 | c.2439C= (p.Ala813=) c.2451C= (p.Ala817=) c.2454C= (p.Ala818=) | |
22 | g.20425537G>T | CA513694387 | SCARF2 | c.2439C>A (p.Ala813=) c.2451C>A (p.Ala817=) c.2454C>A (p.Ala818=) | gnomAD v4 |
22 | g.20425538G>A | CA410738290 | SCARF2 | c.2438C>T (p.Ala813Val) c.2450C>T (p.Ala817Val) c.2453C>T (p.Ala818Val) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.20425538G>C | CA410738288 | SCARF2 | c.2438C>G (p.Ala813Gly) c.2450C>G (p.Ala817Gly) c.2453C>G (p.Ala818Gly) | |
22 | g.20425538G= | CA2396362500 | SCARF2 | c.2438C= (p.Ala813=) c.2450C= (p.Ala817=) c.2453C= (p.Ala818=) | |
22 | g.20425538G>T | CA410738286 | SCARF2 | c.2438C>A (p.Ala813Asp) c.2450C>A (p.Ala817Asp) c.2453C>A (p.Ala818Asp) | gnomAD v4 |
22 | g.20425539C>A | CA410738293 | SCARF2 | c.2437G>T (p.Ala813Ser) c.2449G>T (p.Ala817Ser) c.2452G>T (p.Ala818Ser) | gnomAD v4 |
22 | g.20425539C= | CA2396362501 | SCARF2 | c.2437G= (p.Ala813=) c.2449G= (p.Ala817=) c.2452G= (p.Ala818=) | |
22 | g.20425539C>G | CA410738296 | SCARF2 | c.2437G>C (p.Ala813Pro) c.2449G>C (p.Ala817Pro) c.2452G>C (p.Ala818Pro) | gnomAD v4 |
22 | g.20425539C>T | CA10112175 | SCARF2 | c.2437G>A (p.Ala813Thr) c.2449G>A (p.Ala817Thr) c.2452G>A (p.Ala818Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.20425540G>A | CA513694396 | SCARF2 | c.2436C>T (p.Pro812=) c.2448C>T (p.Pro816=) c.2451C>T (p.Pro817=) | gnomAD v4 |
22 | g.20425540G>C | CA513694401 | SCARF2 | c.2436C>G (p.Pro812=) c.2448C>G (p.Pro816=) c.2451C>G (p.Pro817=) | |
22 | g.20425540G>T | CA513694399 | SCARF2 | c.2436C>A (p.Pro812=) c.2448C>A (p.Pro816=) c.2451C>A (p.Pro817=) | gnomAD v4 |
22 | g.20425541G>A | CA410738298 | SCARF2 | c.2435C>T (p.Pro812Leu) c.2447C>T (p.Pro816Leu) c.2450C>T (p.Pro817Leu) | gnomAD v4 |
22 | g.20425541G>C | CA410738299 | SCARF2 | c.2435C>G (p.Pro812Arg) c.2447C>G (p.Pro816Arg) c.2450C>G (p.Pro817Arg) | |
22 | g.20425541G= | CA2396362502 | SCARF2 | c.2435C= (p.Pro812=) c.2447C= (p.Pro816=) c.2450C= (p.Pro817=) | |
22 | g.20425541G>T | CA10112176 | SCARF2 | c.2435C>A (p.Pro812His) c.2447C>A (p.Pro816His) c.2450C>A (p.Pro817His) | dbSNP ExAC gnomAD v4 |
22 | g.20425542G>A | CA410738302 | SCARF2 | c.2434C>T (p.Pro812Ser) c.2446C>T (p.Pro816Ser) c.2449C>T (p.Pro817Ser) | gnomAD v4 |
22 | g.20425542G>C | CA410738303 | SCARF2 | c.2434C>G (p.Pro812Ala) c.2446C>G (p.Pro816Ala) c.2449C>G (p.Pro817Ala) | |
22 | g.20425542G>T | CA410738305 | SCARF2 | c.2434C>A (p.Pro812Thr) c.2446C>A (p.Pro816Thr) c.2449C>A (p.Pro817Thr) | gnomAD v4 |
22 | g.20425543_20425544del | CA2842690067 | SCARF2 | c.2433_2434del (p.Pro812ArgfsTer13) c.2445_2446del (p.Pro816ArgfsTer13) c.2448_2449del (p.Pro817ArgfsTer13) | |
22 | g.20425543C>A | CA10112177 | SCARF2 | c.2433G>T (p.Ser811=) c.2445G>T (p.Ser815=) c.2448G>T (p.Ser816=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.20425543C= | CA2396362503 | SCARF2 | c.2433G= (p.Ser811=) c.2445G= (p.Ser815=) c.2448G= (p.Ser816=) | |
22 | g.20425543C>G | CA513694415 | SCARF2 | c.2433G>C (p.Ser811=) c.2445G>C (p.Ser815=) c.2448G>C (p.Ser816=) | gnomAD v4 |
22 | g.20425543C>T | CA513694411 | SCARF2 | c.2433G>A (p.Ser811=) c.2445G>A (p.Ser815=) c.2448G>A (p.Ser816=) | gnomAD v4 |
22 | g.20425544G>A | CA410738308 | SCARF2 | c.2432C>T (p.Ser811Leu) c.2444C>T (p.Ser815Leu) c.2447C>T (p.Ser816Leu) | gnomAD v4 |
22 | g.20425544G>C | CA410738310 | SCARF2 | c.2432C>G (p.Ser811Trp) c.2444C>G (p.Ser815Trp) c.2447C>G (p.Ser816Trp) | |
22 | g.20425544G>T | CA410738312 | SCARF2 | c.2432C>A (p.Ser811Ter) c.2444C>A (p.Ser815Ter) c.2447C>A (p.Ser816Ter) | gnomAD v4 |