Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.1540593_1540631dupCA2657648011TPOc.2619-1_2656dup
c.2487-1_2524dup
c.2100-1_2137dup
c.2448-1_2485dup
c.2274-1_2311dup
n.282-1_319dup
c.1043-1828_1043-1790dup
c.909-1_946dup
n.273-1828_273-1790dup
n.910-1828_910-1790dup
c.2619-1828_2619-1790dup (n.2619-1828_2619-1790dup)
c.2316-1_2353dup
n.3834-1828_3834-1790dup
c.2655-1828_2655-1790dup (n.2655-1828_2655-1790dup)
c.2523-1_2560dup
c.2655-1_2692dup
c.2484-1_2521dup
c.2352-1_2389dup
c.2136-1_2173dup
 gnomAD v4
2g.1540611_1540636dupCA2657648013TPOc.2636_2661dup (p.Gly888AsnfsTer16)
c.2504_2529dup (p.Gly844AsnfsTer16)
c.2117_2142dup (p.Gly715AsnfsTer16)
c.2465_2490dup (p.Gly831AsnfsTer16)
c.2291_2316dup (p.Gly773AsnfsTer16)
n.299_324dup
c.1043-1810_1043-1785dup
c.926_951dup (p.Gly318AsnfsTer16)
n.273-1810_273-1785dup
n.910-1810_910-1785dup
c.2619-1810_2619-1785dup (n.2619-1810_2619-1785dup)
c.2333_2358dup (p.Gly787AsnfsTer16)
n.3834-1810_3834-1785dup
c.2655-1810_2655-1785dup (n.2655-1810_2655-1785dup)
c.2540_2565dup (p.Gly856AsnfsTer16)
c.2672_2697dup (p.Gly900AsnfsTer16)
c.2501_2526dup (p.Gly843AsnfsTer16)
c.2369_2394dup (p.Gly799AsnfsTer16)
c.2153_2178dup (p.Gly727AsnfsTer16)
 gnomAD v4
2g.1540610_1540642dupCA530837183TPOc.2635_2667dup (p.Gly889_Gly890insLysSerThrLeuProIleSerGluThrGlyGly)
c.2503_2535dup (p.Gly845_Gly846insLysSerThrLeuProIleSerGluThrGlyGly)
c.2116_2148dup (p.Gly716_Gly717insLysSerThrLeuProIleSerGluThrGlyGly)
c.2464_2496dup (p.Gly832_Gly833insLysSerThrLeuProIleSerGluThrGlyGly)
c.2290_2322dup (p.Gly774_Gly775insLysSerThrLeuProIleSerGluThrGlyGly)
n.298_330dup
c.1043-1811_1043-1779dup
c.925_957dup (p.Gly319_Gly320insLysSerThrLeuProIleSerGluThrGlyGly)
n.273-1811_273-1779dup
n.910-1811_910-1779dup
c.2619-1811_2619-1779dup (n.2619-1811_2619-1779dup)
c.2332_2364dup (p.Gly788_Gly789insLysSerThrLeuProIleSerGluThrGlyGly)
n.3834-1811_3834-1779dup
c.2655-1811_2655-1779dup (n.2655-1811_2655-1779dup)
c.2539_2571dup (p.Gly857_Gly858insLysSerThrLeuProIleSerGluThrGlyGly)
c.2671_2703dup (p.Gly901_Gly902insLysSerThrLeuProIleSerGluThrGlyGly)
c.2500_2532dup (p.Gly844_Gly845insLysSerThrLeuProIleSerGluThrGlyGly)
c.2368_2400dup (p.Gly800_Gly801insLysSerThrLeuProIleSerGluThrGlyGly)
c.2152_2184dup (p.Gly728_Gly729insLysSerThrLeuProIleSerGluThrGlyGly)
 dbSNP gnomAD v2 gnomAD v4
2g.1540620_1540635dupCA2657648014TPOc.2645_2660dup (p.Gly888AlafsTer?)
c.2513_2528dup (p.Gly844AlafsTer?)
c.2126_2141dup (p.Gly715AlafsTer?)
c.2474_2489dup (p.Gly831AlafsTer?)
c.2300_2315dup (p.Gly773AlafsTer?)
n.308_323dup
c.1043-1801_1043-1786dup
c.935_950dup (p.Gly318AlafsTer?)
n.273-1801_273-1786dup
n.910-1801_910-1786dup
c.2619-1801_2619-1786dup (n.2619-1801_2619-1786dup)
c.2342_2357dup (p.Gly787AlafsTer?)
n.3834-1801_3834-1786dup
c.2655-1801_2655-1786dup (n.2655-1801_2655-1786dup)
c.2549_2564dup (p.Gly856AlafsTer?)
c.2681_2696dup (p.Gly900AlafsTer?)
c.2510_2525dup (p.Gly843AlafsTer?)
c.2378_2393dup (p.Gly799AlafsTer?)
c.2162_2177dup (p.Gly727AlafsTer?)
 gnomAD v4
2g.1540623_1540639delCA2657648015TPOc.2648_2664del (p.Pro883ArgfsTer?)
c.2516_2532del (p.Pro839ArgfsTer?)
c.2129_2145del (p.Pro710ArgfsTer?)
c.2477_2493del (p.Pro826ArgfsTer?)
c.2303_2319del (p.Pro768ArgfsTer?)
n.311_327del
c.1043-1798_1043-1782del
c.938_954del (p.Pro313ArgfsTer?)
n.273-1798_273-1782del
n.910-1798_910-1782del
c.2619-1798_2619-1782del (n.2619-1798_2619-1782del)
c.2345_2361del (p.Pro782ArgfsTer?)
n.3834-1798_3834-1782del
c.2655-1798_2655-1782del (n.2655-1798_2655-1782del)
c.2552_2568del (p.Pro851ArgfsTer?)
c.2684_2700del (p.Pro895ArgfsTer?)
c.2513_2529del (p.Pro838ArgfsTer?)
c.2381_2397del (p.Pro794ArgfsTer?)
c.2165_2181del (p.Pro722ArgfsTer?)
 gnomAD v4
2g.1540622C>ACA345696071TPOc.2647C>A (p.Pro883Thr)
c.2515C>A (p.Pro839Thr)
c.2128C>A (p.Pro710Thr)
c.2476C>A (p.Pro826Thr)
c.2302C>A (p.Pro768Thr)
n.310C>A
c.1043-1799C>A
c.937C>A (p.Pro313Thr)
n.273-1799C>A
n.910-1799C>A
c.2619-1799C>A (n.2619-1799C>A)
c.2344C>A (p.Pro782Thr)
n.3834-1799C>A
c.2655-1799C>A (n.2655-1799C>A)
c.2551C>A (p.Pro851Thr)
c.2683C>A (p.Pro895Thr)
c.2512C>A (p.Pro838Thr)
c.2380C>A (p.Pro794Thr)
c.2164C>A (p.Pro722Thr)
2g.1540622C=CA1233609839TPOc.2647C= (p.Pro883=)
c.2515C= (p.Pro839=)
c.2128C= (p.Pro710=)
c.2476C= (p.Pro826=)
c.2302C= (p.Pro768=)
n.310C=
c.1043-1799C=
c.937C= (p.Pro313=)
n.273-1799C=
n.910-1799C=
c.2619-1799C= (n.2619-1799C=)
c.2344C= (p.Pro782=)
n.3834-1799C=
c.2655-1799C= (n.2655-1799C=)
c.2551C= (p.Pro851=)
c.2683C= (p.Pro895=)
c.2512C= (p.Pro838=)
c.2380C= (p.Pro794=)
c.2164C= (p.Pro722=)
2g.1540622C>GCA345696072TPOc.2647C>G (p.Pro883Ala)
c.2515C>G (p.Pro839Ala)
c.2128C>G (p.Pro710Ala)
c.2476C>G (p.Pro826Ala)
c.2302C>G (p.Pro768Ala)
n.310C>G
c.1043-1799C>G
c.937C>G (p.Pro313Ala)
n.273-1799C>G
n.910-1799C>G
c.2619-1799C>G (n.2619-1799C>G)
c.2344C>G (p.Pro782Ala)
n.3834-1799C>G
c.2655-1799C>G (n.2655-1799C>G)
c.2551C>G (p.Pro851Ala)
c.2683C>G (p.Pro895Ala)
c.2512C>G (p.Pro838Ala)
c.2380C>G (p.Pro794Ala)
c.2164C>G (p.Pro722Ala)
2g.1540622C>TCA1512234TPOc.2647C>T (p.Pro883Ser)
c.2515C>T (p.Pro839Ser)
c.2128C>T (p.Pro710Ser)
c.2476C>T (p.Pro826Ser)
c.2302C>T (p.Pro768Ser)
n.310C>T
c.1043-1799C>T
c.937C>T (p.Pro313Ser)
n.273-1799C>T
n.910-1799C>T
c.2619-1799C>T (n.2619-1799C>T)
c.2344C>T (p.Pro782Ser)
n.3834-1799C>T
c.2655-1799C>T (n.2655-1799C>T)
c.2551C>T (p.Pro851Ser)
c.2683C>T (p.Pro895Ser)
c.2512C>T (p.Pro838Ser)
c.2380C>T (p.Pro794Ser)
c.2164C>T (p.Pro722Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540623C>ACA345696073TPOc.2648C>A (p.Pro883His)
c.2516C>A (p.Pro839His)
c.2129C>A (p.Pro710His)
c.2477C>A (p.Pro826His)
c.2303C>A (p.Pro768His)
n.311C>A
c.1043-1798C>A
c.938C>A (p.Pro313His)
n.273-1798C>A
n.910-1798C>A
c.2619-1798C>A (n.2619-1798C>A)
c.2345C>A (p.Pro782His)
n.3834-1798C>A
c.2655-1798C>A (n.2655-1798C>A)
c.2552C>A (p.Pro851His)
c.2684C>A (p.Pro895His)
c.2513C>A (p.Pro838His)
c.2381C>A (p.Pro794His)
c.2165C>A (p.Pro722His)
2g.1540623C=CA1233609840TPOc.2648C= (p.Pro883=)
c.2516C= (p.Pro839=)
c.2129C= (p.Pro710=)
c.2477C= (p.Pro826=)
c.2303C= (p.Pro768=)
n.311C=
c.1043-1798C=
c.938C= (p.Pro313=)
n.273-1798C=
n.910-1798C=
c.2619-1798C= (n.2619-1798C=)
c.2345C= (p.Pro782=)
n.3834-1798C=
c.2655-1798C= (n.2655-1798C=)
c.2552C= (p.Pro851=)
c.2684C= (p.Pro895=)
c.2513C= (p.Pro838=)
c.2381C= (p.Pro794=)
c.2165C= (p.Pro722=)
2g.1540623C>GCA345696074TPOc.2648C>G (p.Pro883Arg)
c.2516C>G (p.Pro839Arg)
c.2129C>G (p.Pro710Arg)
c.2477C>G (p.Pro826Arg)
c.2303C>G (p.Pro768Arg)
n.311C>G
c.1043-1798C>G
c.938C>G (p.Pro313Arg)
n.273-1798C>G
n.910-1798C>G
c.2619-1798C>G (n.2619-1798C>G)
c.2345C>G (p.Pro782Arg)
n.3834-1798C>G
c.2655-1798C>G (n.2655-1798C>G)
c.2552C>G (p.Pro851Arg)
c.2684C>G (p.Pro895Arg)
c.2513C>G (p.Pro838Arg)
c.2381C>G (p.Pro794Arg)
c.2165C>G (p.Pro722Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.1540623C>TCA345696075TPOc.2648C>T (p.Pro883Leu)
c.2516C>T (p.Pro839Leu)
c.2129C>T (p.Pro710Leu)
c.2477C>T (p.Pro826Leu)
c.2303C>T (p.Pro768Leu)
n.311C>T
c.1043-1798C>T
c.938C>T (p.Pro313Leu)
n.273-1798C>T
n.910-1798C>T
c.2619-1798C>T (n.2619-1798C>T)
c.2345C>T (p.Pro782Leu)
n.3834-1798C>T
c.2655-1798C>T (n.2655-1798C>T)
c.2552C>T (p.Pro851Leu)
c.2684C>T (p.Pro895Leu)
c.2513C>T (p.Pro838Leu)
c.2381C>T (p.Pro794Leu)
c.2165C>T (p.Pro722Leu)
 dbSNP
2g.1540624C>ACA424757061TPOc.2649C>A (p.Pro883=)
c.2517C>A (p.Pro839=)
c.2130C>A (p.Pro710=)
c.2478C>A (p.Pro826=)
c.2304C>A (p.Pro768=)
n.312C>A
c.1043-1797C>A
c.939C>A (p.Pro313=)
n.273-1797C>A
n.910-1797C>A
c.2619-1797C>A (n.2619-1797C>A)
c.2346C>A (p.Pro782=)
n.3834-1797C>A
c.2655-1797C>A (n.2655-1797C>A)
c.2553C>A (p.Pro851=)
c.2685C>A (p.Pro895=)
c.2514C>A (p.Pro838=)
c.2382C>A (p.Pro794=)
c.2166C>A (p.Pro722=)
2g.1540624C=CA1233609841TPOc.2649C= (p.Pro883=)
c.2517C= (p.Pro839=)
c.2130C= (p.Pro710=)
c.2478C= (p.Pro826=)
c.2304C= (p.Pro768=)
n.312C=
c.1043-1797C=
c.939C= (p.Pro313=)
n.273-1797C=
n.910-1797C=
c.2619-1797C= (n.2619-1797C=)
c.2346C= (p.Pro782=)
n.3834-1797C=
c.2655-1797C= (n.2655-1797C=)
c.2553C= (p.Pro851=)
c.2685C= (p.Pro895=)
c.2514C= (p.Pro838=)
c.2382C= (p.Pro794=)
c.2166C= (p.Pro722=)
2g.1540624C>GCA424757062TPOc.2649C>G (p.Pro883=)
c.2517C>G (p.Pro839=)
c.2130C>G (p.Pro710=)
c.2478C>G (p.Pro826=)
c.2304C>G (p.Pro768=)
n.312C>G
c.1043-1797C>G
c.939C>G (p.Pro313=)
n.273-1797C>G
n.910-1797C>G
c.2619-1797C>G (n.2619-1797C>G)
c.2346C>G (p.Pro782=)
n.3834-1797C>G
c.2655-1797C>G (n.2655-1797C>G)
c.2553C>G (p.Pro851=)
c.2685C>G (p.Pro895=)
c.2514C>G (p.Pro838=)
c.2382C>G (p.Pro794=)
c.2166C>G (p.Pro722=)
2g.1540624C>TCA424757063TPOc.2649C>T (p.Pro883=)
c.2517C>T (p.Pro839=)
c.2130C>T (p.Pro710=)
c.2478C>T (p.Pro826=)
c.2304C>T (p.Pro768=)
n.312C>T
c.1043-1797C>T
c.939C>T (p.Pro313=)
n.273-1797C>T
n.910-1797C>T
c.2619-1797C>T (n.2619-1797C>T)
c.2346C>T (p.Pro782=)
n.3834-1797C>T
c.2655-1797C>T (n.2655-1797C>T)
c.2553C>T (p.Pro851=)
c.2685C>T (p.Pro895=)
c.2514C>T (p.Pro838=)
c.2382C>T (p.Pro794=)
c.2166C>T (p.Pro722=)
 ClinVar dbSNP gnomAD v4
2g.1540625A>CCA345696076TPOc.2650A>C (p.Ile884Leu)
c.2518A>C (p.Ile840Leu)
c.2131A>C (p.Ile711Leu)
c.2479A>C (p.Ile827Leu)
c.2305A>C (p.Ile769Leu)
n.313A>C
c.1043-1796A>C
c.940A>C (p.Ile314Leu)
n.273-1796A>C
n.910-1796A>C
c.2619-1796A>C (n.2619-1796A>C)
c.2347A>C (p.Ile783Leu)
n.3834-1796A>C
c.2655-1796A>C (n.2655-1796A>C)
c.2554A>C (p.Ile852Leu)
c.2686A>C (p.Ile896Leu)
c.2515A>C (p.Ile839Leu)
c.2383A>C (p.Ile795Leu)
c.2167A>C (p.Ile723Leu)
2g.1540625A>GCA345696077TPOc.2650A>G (p.Ile884Val)
c.2518A>G (p.Ile840Val)
c.2131A>G (p.Ile711Val)
c.2479A>G (p.Ile827Val)
c.2305A>G (p.Ile769Val)
n.313A>G
c.1043-1796A>G
c.940A>G (p.Ile314Val)
n.273-1796A>G
n.910-1796A>G
c.2619-1796A>G (n.2619-1796A>G)
c.2347A>G (p.Ile783Val)
n.3834-1796A>G
c.2655-1796A>G (n.2655-1796A>G)
c.2554A>G (p.Ile852Val)
c.2686A>G (p.Ile896Val)
c.2515A>G (p.Ile839Val)
c.2383A>G (p.Ile795Val)
c.2167A>G (p.Ile723Val)
 COSMIC
2g.1540625A>TCA345696078TPOc.2650A>T (p.Ile884Phe)
c.2518A>T (p.Ile840Phe)
c.2131A>T (p.Ile711Phe)
c.2479A>T (p.Ile827Phe)
c.2305A>T (p.Ile769Phe)
n.313A>T
c.1043-1796A>T
c.940A>T (p.Ile314Phe)
n.273-1796A>T
n.910-1796A>T
c.2619-1796A>T (n.2619-1796A>T)
c.2347A>T (p.Ile783Phe)
n.3834-1796A>T
c.2655-1796A>T (n.2655-1796A>T)
c.2554A>T (p.Ile852Phe)
c.2686A>T (p.Ile896Phe)
c.2515A>T (p.Ile839Phe)
c.2383A>T (p.Ile795Phe)
c.2167A>T (p.Ile723Phe)
 gnomAD v4
2g.1540626_1540632delCA2576700693TPOc.2651_2657del (p.Ile884ArgfsTer9)
c.2519_2525del (p.Ile840ArgfsTer9)
c.2132_2138del (p.Ile711ArgfsTer9)
c.2480_2486del (p.Ile827ArgfsTer9)
c.2306_2312del (p.Ile769ArgfsTer9)
n.314_320del
c.1043-1795_1043-1789del
c.941_947del (p.Ile314ArgfsTer9)
n.273-1795_273-1789del
n.910-1795_910-1789del
c.2619-1795_2619-1789del (n.2619-1795_2619-1789del)
c.2348_2354del (p.Ile783ArgfsTer9)
n.3834-1795_3834-1789del
c.2655-1795_2655-1789del (n.2655-1795_2655-1789del)
c.2555_2561del (p.Ile852ArgfsTer9)
c.2687_2693del (p.Ile896ArgfsTer9)
c.2516_2522del (p.Ile839ArgfsTer9)
c.2384_2390del (p.Ile795ArgfsTer9)
c.2168_2174del (p.Ile723ArgfsTer9)
2g.1540626T>ACA345696081TPOc.2651T>A (p.Ile884Asn)
c.2519T>A (p.Ile840Asn)
c.2132T>A (p.Ile711Asn)
c.2480T>A (p.Ile827Asn)
c.2306T>A (p.Ile769Asn)
n.314T>A
c.1043-1795T>A
c.941T>A (p.Ile314Asn)
n.273-1795T>A
n.910-1795T>A
c.2619-1795T>A (n.2619-1795T>A)
c.2348T>A (p.Ile783Asn)
n.3834-1795T>A
c.2655-1795T>A (n.2655-1795T>A)
c.2555T>A (p.Ile852Asn)
c.2687T>A (p.Ile896Asn)
c.2516T>A (p.Ile839Asn)
c.2384T>A (p.Ile795Asn)
c.2168T>A (p.Ile723Asn)
2g.1540626T>CCA345696080TPOc.2651T>C (p.Ile884Thr)
c.2519T>C (p.Ile840Thr)
c.2132T>C (p.Ile711Thr)
c.2480T>C (p.Ile827Thr)
c.2306T>C (p.Ile769Thr)
n.314T>C
c.1043-1795T>C
c.941T>C (p.Ile314Thr)
n.273-1795T>C
n.910-1795T>C
c.2619-1795T>C (n.2619-1795T>C)
c.2348T>C (p.Ile783Thr)
n.3834-1795T>C
c.2655-1795T>C (n.2655-1795T>C)
c.2555T>C (p.Ile852Thr)
c.2687T>C (p.Ile896Thr)
c.2516T>C (p.Ile839Thr)
c.2384T>C (p.Ile795Thr)
c.2168T>C (p.Ile723Thr)
2g.1540626T>GCA345696079TPOc.2651T>G (p.Ile884Ser)
c.2519T>G (p.Ile840Ser)
c.2132T>G (p.Ile711Ser)
c.2480T>G (p.Ile827Ser)
c.2306T>G (p.Ile769Ser)
n.314T>G
c.1043-1795T>G
c.941T>G (p.Ile314Ser)
n.273-1795T>G
n.910-1795T>G
c.2619-1795T>G (n.2619-1795T>G)
c.2348T>G (p.Ile783Ser)
n.3834-1795T>G
c.2655-1795T>G (n.2655-1795T>G)
c.2555T>G (p.Ile852Ser)
c.2687T>G (p.Ile896Ser)
c.2516T>G (p.Ile839Ser)
c.2384T>G (p.Ile795Ser)
c.2168T>G (p.Ile723Ser)
2g.1540627C>ACA424757068TPOc.2652C>A (p.Ile884=)
c.2520C>A (p.Ile840=)
c.2133C>A (p.Ile711=)
c.2481C>A (p.Ile827=)
c.2307C>A (p.Ile769=)
n.315C>A
c.1043-1794C>A
c.942C>A (p.Ile314=)
n.273-1794C>A
n.910-1794C>A
c.2619-1794C>A (n.2619-1794C>A)
c.2349C>A (p.Ile783=)
n.3834-1794C>A
c.2655-1794C>A (n.2655-1794C>A)
c.2556C>A (p.Ile852=)
c.2688C>A (p.Ile896=)
c.2517C>A (p.Ile839=)
c.2385C>A (p.Ile795=)
c.2169C>A (p.Ile723=)
2g.1540627C=CA1233609842TPOc.2652C= (p.Ile884=)
c.2520C= (p.Ile840=)
c.2133C= (p.Ile711=)
c.2481C= (p.Ile827=)
c.2307C= (p.Ile769=)
n.315C=
c.1043-1794C=
c.942C= (p.Ile314=)
n.273-1794C=
n.910-1794C=
c.2619-1794C= (n.2619-1794C=)
c.2349C= (p.Ile783=)
n.3834-1794C=
c.2655-1794C= (n.2655-1794C=)
c.2556C= (p.Ile852=)
c.2688C= (p.Ile896=)
c.2517C= (p.Ile839=)
c.2385C= (p.Ile795=)
c.2169C= (p.Ile723=)
2g.1540627C>GCA1512236TPOc.2652C>G (p.Ile884Met)
c.2520C>G (p.Ile840Met)
c.2133C>G (p.Ile711Met)
c.2481C>G (p.Ile827Met)
c.2307C>G (p.Ile769Met)
n.315C>G
c.1043-1794C>G
c.942C>G (p.Ile314Met)
n.273-1794C>G
n.910-1794C>G
c.2619-1794C>G (n.2619-1794C>G)
c.2349C>G (p.Ile783Met)
n.3834-1794C>G
c.2655-1794C>G (n.2655-1794C>G)
c.2556C>G (p.Ile852Met)
c.2688C>G (p.Ile896Met)
c.2517C>G (p.Ile839Met)
c.2385C>G (p.Ile795Met)
c.2169C>G (p.Ile723Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540627C>TCA1512235TPOc.2652C>T (p.Ile884=)
c.2520C>T (p.Ile840=)
c.2133C>T (p.Ile711=)
c.2481C>T (p.Ile827=)
c.2307C>T (p.Ile769=)
n.315C>T
c.1043-1794C>T
c.942C>T (p.Ile314=)
n.273-1794C>T
n.910-1794C>T
c.2619-1794C>T (n.2619-1794C>T)
c.2349C>T (p.Ile783=)
n.3834-1794C>T
c.2655-1794C>T (n.2655-1794C>T)
c.2556C>T (p.Ile852=)
c.2688C>T (p.Ile896=)
c.2517C>T (p.Ile839=)
c.2385C>T (p.Ile795=)
c.2169C>T (p.Ile723=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540628T>ACA345696082TPOc.2653T>A (p.Ser885Thr)
c.2521T>A (p.Ser841Thr)
c.2134T>A (p.Ser712Thr)
c.2482T>A (p.Ser828Thr)
c.2308T>A (p.Ser770Thr)
n.316T>A
c.1043-1793T>A
c.943T>A (p.Ser315Thr)
n.273-1793T>A
n.910-1793T>A
c.2619-1793T>A (n.2619-1793T>A)
c.2350T>A (p.Ser784Thr)
n.3834-1793T>A
c.2655-1793T>A (n.2655-1793T>A)
c.2557T>A (p.Ser853Thr)
c.2689T>A (p.Ser897Thr)
c.2518T>A (p.Ser840Thr)
c.2386T>A (p.Ser796Thr)
c.2170T>A (p.Ser724Thr)
2g.1540628T>CCA345696083TPOc.2653T>C (p.Ser885Pro)
c.2521T>C (p.Ser841Pro)
c.2134T>C (p.Ser712Pro)
c.2482T>C (p.Ser828Pro)
c.2308T>C (p.Ser770Pro)
n.316T>C
c.1043-1793T>C
c.943T>C (p.Ser315Pro)
n.273-1793T>C
n.910-1793T>C
c.2619-1793T>C (n.2619-1793T>C)
c.2350T>C (p.Ser784Pro)
n.3834-1793T>C
c.2655-1793T>C (n.2655-1793T>C)
c.2557T>C (p.Ser853Pro)
c.2689T>C (p.Ser897Pro)
c.2518T>C (p.Ser840Pro)
c.2386T>C (p.Ser796Pro)
c.2170T>C (p.Ser724Pro)
2g.1540628T>GCA345696084TPOc.2653T>G (p.Ser885Ala)
c.2521T>G (p.Ser841Ala)
c.2134T>G (p.Ser712Ala)
c.2482T>G (p.Ser828Ala)
c.2308T>G (p.Ser770Ala)
n.316T>G
c.1043-1793T>G
c.943T>G (p.Ser315Ala)
n.273-1793T>G
n.910-1793T>G
c.2619-1793T>G (n.2619-1793T>G)
c.2350T>G (p.Ser784Ala)
n.3834-1793T>G
c.2655-1793T>G (n.2655-1793T>G)
c.2557T>G (p.Ser853Ala)
c.2689T>G (p.Ser897Ala)
c.2518T>G (p.Ser840Ala)
c.2386T>G (p.Ser796Ala)
c.2170T>G (p.Ser724Ala)
2g.1540629C>ACA345696085TPOc.2654C>A (p.Ser885Ter)
c.2522C>A (p.Ser841Ter)
c.2135C>A (p.Ser712Ter)
c.2483C>A (p.Ser828Ter)
c.2309C>A (p.Ser770Ter)
n.317C>A
c.1043-1792C>A
c.944C>A (p.Ser315Ter)
n.273-1792C>A
n.910-1792C>A
c.2619-1792C>A (n.2619-1792C>A)
c.2351C>A (p.Ser784Ter)
n.3834-1792C>A
c.2655-1792C>A (n.2655-1792C>A)
c.2558C>A (p.Ser853Ter)
c.2690C>A (p.Ser897Ter)
c.2519C>A (p.Ser840Ter)
c.2387C>A (p.Ser796Ter)
c.2171C>A (p.Ser724Ter)
 gnomAD v4
2g.1540629C=CA1233609843TPOc.2654C= (p.Ser885=)
c.2522C= (p.Ser841=)
c.2135C= (p.Ser712=)
c.2483C= (p.Ser828=)
c.2309C= (p.Ser770=)
n.317C=
c.1043-1792C=
c.944C= (p.Ser315=)
n.273-1792C=
n.910-1792C=
c.2619-1792C= (n.2619-1792C=)
c.2351C= (p.Ser784=)
n.3834-1792C=
c.2655-1792C= (n.2655-1792C=)
c.2558C= (p.Ser853=)
c.2690C= (p.Ser897=)
c.2519C= (p.Ser840=)
c.2387C= (p.Ser796=)
c.2171C= (p.Ser724=)
2g.1540629C>GCA345696086TPOc.2654C>G (p.Ser885Trp)
c.2522C>G (p.Ser841Trp)
c.2135C>G (p.Ser712Trp)
c.2483C>G (p.Ser828Trp)
c.2309C>G (p.Ser770Trp)
n.317C>G
c.1043-1792C>G
c.944C>G (p.Ser315Trp)
n.273-1792C>G
n.910-1792C>G
c.2619-1792C>G (n.2619-1792C>G)
c.2351C>G (p.Ser784Trp)
n.3834-1792C>G
c.2655-1792C>G (n.2655-1792C>G)
c.2558C>G (p.Ser853Trp)
c.2690C>G (p.Ser897Trp)
c.2519C>G (p.Ser840Trp)
c.2387C>G (p.Ser796Trp)
c.2171C>G (p.Ser724Trp)
2g.1540629C>TCA1512237TPOc.2654C>T (p.Ser885Leu)
c.2522C>T (p.Ser841Leu)
c.2135C>T (p.Ser712Leu)
c.2483C>T (p.Ser828Leu)
c.2309C>T (p.Ser770Leu)
n.317C>T
c.1043-1792C>T
c.944C>T (p.Ser315Leu)
n.273-1792C>T
n.910-1792C>T
c.2619-1792C>T (n.2619-1792C>T)
c.2351C>T (p.Ser784Leu)
n.3834-1792C>T
c.2655-1792C>T (n.2655-1792C>T)
c.2558C>T (p.Ser853Leu)
c.2690C>T (p.Ser897Leu)
c.2519C>T (p.Ser840Leu)
c.2387C>T (p.Ser796Leu)
c.2171C>T (p.Ser724Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1540630G>ACA1512238TPOc.2655G>A (p.Ser885=)
c.2523G>A (p.Ser841=)
c.2136G>A (p.Ser712=)
c.2484G>A (p.Ser828=)
c.2310G>A (p.Ser770=)
n.318G>A
c.1043-1791G>A
c.945G>A (p.Ser315=)
n.273-1791G>A
n.910-1791G>A
c.2619-1791G>A (n.2619-1791G>A)
c.2352G>A (p.Ser784=)
n.3834-1791G>A
c.2655-1791G>A (n.2655-1791G>A)
c.2559G>A (p.Ser853=)
c.2691G>A (p.Ser897=)
c.2520G>A (p.Ser840=)
c.2388G>A (p.Ser796=)
c.2172G>A (p.Ser724=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1540630G>CCA424757072TPOc.2655G>C (p.Ser885=)
c.2523G>C (p.Ser841=)
c.2136G>C (p.Ser712=)
c.2484G>C (p.Ser828=)
c.2310G>C (p.Ser770=)
n.318G>C
c.1043-1791G>C
c.945G>C (p.Ser315=)
n.273-1791G>C
n.910-1791G>C
c.2619-1791G>C (n.2619-1791G>C)
c.2352G>C (p.Ser784=)
n.3834-1791G>C
c.2655-1791G>C (n.2655-1791G>C)
c.2559G>C (p.Ser853=)
c.2691G>C (p.Ser897=)
c.2520G>C (p.Ser840=)
c.2388G>C (p.Ser796=)
c.2172G>C (p.Ser724=)
2g.1540630G=CA1233609844TPOc.2655G= (p.Ser885=)
c.2523G= (p.Ser841=)
c.2136G= (p.Ser712=)
c.2484G= (p.Ser828=)
c.2310G= (p.Ser770=)
n.318G=
c.1043-1791G=
c.945G= (p.Ser315=)
n.273-1791G=
n.910-1791G=
c.2619-1791G= (n.2619-1791G=)
c.2352G= (p.Ser784=)
n.3834-1791G=
c.2655-1791G= (n.2655-1791G=)
c.2559G= (p.Ser853=)
c.2691G= (p.Ser897=)
c.2520G= (p.Ser840=)
c.2388G= (p.Ser796=)
c.2172G= (p.Ser724=)
2g.1540630G>TCA424757070TPOc.2655G>T (p.Ser885=)
c.2523G>T (p.Ser841=)
c.2136G>T (p.Ser712=)
c.2484G>T (p.Ser828=)
c.2310G>T (p.Ser770=)
n.318G>T
c.1043-1791G>T
c.945G>T (p.Ser315=)
n.273-1791G>T
n.910-1791G>T
c.2619-1791G>T (n.2619-1791G>T)
c.2352G>T (p.Ser784=)
n.3834-1791G>T
c.2655-1791G>T (n.2655-1791G>T)
c.2559G>T (p.Ser853=)
c.2691G>T (p.Ser897=)
c.2520G>T (p.Ser840=)
c.2388G>T (p.Ser796=)
c.2172G>T (p.Ser724=)
2g.1540631G>ACA345696087TPOc.2656G>A (p.Glu886Lys)
c.2524G>A (p.Glu842Lys)
c.2137G>A (p.Glu713Lys)
c.2485G>A (p.Glu829Lys)
c.2311G>A (p.Glu771Lys)
n.319G>A
c.1043-1790G>A
c.946G>A (p.Glu316Lys)
n.273-1790G>A
n.910-1790G>A
c.2619-1790G>A (n.2619-1790G>A)
c.2353G>A (p.Glu785Lys)
n.3834-1790G>A
c.2655-1790G>A (n.2655-1790G>A)
c.2560G>A (p.Glu854Lys)
c.2692G>A (p.Glu898Lys)
c.2521G>A (p.Glu841Lys)
c.2389G>A (p.Glu797Lys)
c.2173G>A (p.Glu725Lys)
 COSMIC
2g.1540631G>CCA345696088TPOc.2656G>C (p.Glu886Gln)
c.2524G>C (p.Glu842Gln)
c.2137G>C (p.Glu713Gln)
c.2485G>C (p.Glu829Gln)
c.2311G>C (p.Glu771Gln)
n.319G>C
c.1043-1790G>C
c.946G>C (p.Glu316Gln)
n.273-1790G>C
n.910-1790G>C
c.2619-1790G>C (n.2619-1790G>C)
c.2353G>C (p.Glu785Gln)
n.3834-1790G>C
c.2655-1790G>C (n.2655-1790G>C)
c.2560G>C (p.Glu854Gln)
c.2692G>C (p.Glu898Gln)
c.2521G>C (p.Glu841Gln)
c.2389G>C (p.Glu797Gln)
c.2173G>C (p.Glu725Gln)
 gnomAD v4
2g.1540631G=CA1233609845TPOc.2656G= (p.Glu886=)
c.2524G= (p.Glu842=)
c.2137G= (p.Glu713=)
c.2485G= (p.Glu829=)
c.2311G= (p.Glu771=)
n.319G=
c.1043-1790G=
c.946G= (p.Glu316=)
n.273-1790G=
n.910-1790G=
c.2619-1790G= (n.2619-1790G=)
c.2353G= (p.Glu785=)
n.3834-1790G=
c.2655-1790G= (n.2655-1790G=)
c.2560G= (p.Glu854=)
c.2692G= (p.Glu898=)
c.2521G= (p.Glu841=)
c.2389G= (p.Glu797=)
c.2173G= (p.Glu725=)
2g.1540631G>TCA345696089TPOc.2656G>T (p.Glu886Ter)
c.2524G>T (p.Glu842Ter)
c.2137G>T (p.Glu713Ter)
c.2485G>T (p.Glu829Ter)
c.2311G>T (p.Glu771Ter)
n.319G>T
c.1043-1790G>T
c.946G>T (p.Glu316Ter)
n.273-1790G>T
n.910-1790G>T
c.2619-1790G>T (n.2619-1790G>T)
c.2353G>T (p.Glu785Ter)
n.3834-1790G>T
c.2655-1790G>T (n.2655-1790G>T)
c.2560G>T (p.Glu854Ter)
c.2692G>T (p.Glu898Ter)
c.2521G>T (p.Glu841Ter)
c.2389G>T (p.Glu797Ter)
c.2173G>T (p.Glu725Ter)
2g.1540632A=CA1233609846TPOc.2657A= (p.Glu886=)
c.2525A= (p.Glu842=)
c.2138A= (p.Glu713=)
c.2486A= (p.Glu829=)
c.2312A= (p.Glu771=)
n.320A=
c.1043-1789A=
c.947A= (p.Glu316=)
n.273-1789A=
n.910-1789A=
c.2619-1789A= (n.2619-1789A=)
c.2354A= (p.Glu785=)
n.3834-1789A=
c.2655-1789A= (n.2655-1789A=)
c.2561A= (p.Glu854=)
c.2693A= (p.Glu898=)
c.2522A= (p.Glu841=)
c.2390A= (p.Glu797=)
c.2174A= (p.Glu725=)
2g.1540632A>CCA345696091TPOc.2657A>C (p.Glu886Ala)
c.2525A>C (p.Glu842Ala)
c.2138A>C (p.Glu713Ala)
c.2486A>C (p.Glu829Ala)
c.2312A>C (p.Glu771Ala)
n.320A>C
c.1043-1789A>C
c.947A>C (p.Glu316Ala)
n.273-1789A>C
n.910-1789A>C
c.2619-1789A>C (n.2619-1789A>C)
c.2354A>C (p.Glu785Ala)
n.3834-1789A>C
c.2655-1789A>C (n.2655-1789A>C)
c.2561A>C (p.Glu854Ala)
c.2693A>C (p.Glu898Ala)
c.2522A>C (p.Glu841Ala)
c.2390A>C (p.Glu797Ala)
c.2174A>C (p.Glu725Ala)
2g.1540632A>GCA41406217TPOc.2657A>G (p.Glu886Gly)
c.2525A>G (p.Glu842Gly)
c.2138A>G (p.Glu713Gly)
c.2486A>G (p.Glu829Gly)
c.2312A>G (p.Glu771Gly)
n.320A>G
c.1043-1789A>G
c.947A>G (p.Glu316Gly)
n.273-1789A>G
n.910-1789A>G
c.2619-1789A>G (n.2619-1789A>G)
c.2354A>G (p.Glu785Gly)
n.3834-1789A>G
c.2655-1789A>G (n.2655-1789A>G)
c.2561A>G (p.Glu854Gly)
c.2693A>G (p.Glu898Gly)
c.2522A>G (p.Glu841Gly)
c.2390A>G (p.Glu797Gly)
c.2174A>G (p.Glu725Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.1540632A>TCA345696090TPOc.2657A>T (p.Glu886Val)
c.2525A>T (p.Glu842Val)
c.2138A>T (p.Glu713Val)
c.2486A>T (p.Glu829Val)
c.2312A>T (p.Glu771Val)
n.320A>T
c.1043-1789A>T
c.947A>T (p.Glu316Val)
n.273-1789A>T
n.910-1789A>T
c.2619-1789A>T (n.2619-1789A>T)
c.2354A>T (p.Glu785Val)
n.3834-1789A>T
c.2655-1789A>T (n.2655-1789A>T)
c.2561A>T (p.Glu854Val)
c.2693A>T (p.Glu898Val)
c.2522A>T (p.Glu841Val)
c.2390A>T (p.Glu797Val)
c.2174A>T (p.Glu725Val)
2g.1540633_1540667dupCA530837215TPOc.2658_2692dup (p.Lys898ArgfsTer9)
c.2526_2560dup (p.Lys854ArgfsTer9)
c.2139_2173dup (p.Lys725ArgfsTer9)
c.2487_2521dup (p.Lys841ArgfsTer9)
c.2313_2347dup (p.Lys783ArgfsTer9)
n.321_355dup
c.1043-1788_1043-1754dup
c.948_982dup (p.Lys328ArgfsTer9)
n.273-1788_273-1754dup
n.910-1788_910-1754dup
c.2619-1788_2619-1754dup (n.2619-1788_2619-1754dup)
c.2355_2389dup (p.Lys797ArgfsTer9)
n.3834-1788_3834-1754dup
c.2655-1788_2655-1754dup (n.2655-1788_2655-1754dup)
c.2562_2596dup (p.Lys866ArgfsTer9)
c.2694_2728dup (p.Lys910ArgfsTer9)
c.2523_2557dup (p.Lys853ArgfsTer9)
c.2391_2425dup (p.Lys809ArgfsTer9)
c.2175_2209dup (p.Lys737ArgfsTer9)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1540633G>ACA424757075TPOc.2658G>A (p.Glu886=)
c.2526G>A (p.Glu842=)
c.2139G>A (p.Glu713=)
c.2487G>A (p.Glu829=)
c.2313G>A (p.Glu771=)
n.321G>A
c.1043-1788G>A
c.948G>A (p.Glu316=)
n.273-1788G>A
n.910-1788G>A
c.2619-1788G>A (n.2619-1788G>A)
c.2355G>A (p.Glu785=)
n.3834-1788G>A
c.2655-1788G>A (n.2655-1788G>A)
c.2562G>A (p.Glu854=)
c.2694G>A (p.Glu898=)
c.2523G>A (p.Glu841=)
c.2391G>A (p.Glu797=)
c.2175G>A (p.Glu725=)
 COSMIC
2g.1540633G>CCA345696092TPOc.2658G>C (p.Glu886Asp)
c.2526G>C (p.Glu842Asp)
c.2139G>C (p.Glu713Asp)
c.2487G>C (p.Glu829Asp)
c.2313G>C (p.Glu771Asp)
n.321G>C
c.1043-1788G>C
c.948G>C (p.Glu316Asp)
n.273-1788G>C
n.910-1788G>C
c.2619-1788G>C (n.2619-1788G>C)
c.2355G>C (p.Glu785Asp)
n.3834-1788G>C
c.2655-1788G>C (n.2655-1788G>C)
c.2562G>C (p.Glu854Asp)
c.2694G>C (p.Glu898Asp)
c.2523G>C (p.Glu841Asp)
c.2391G>C (p.Glu797Asp)
c.2175G>C (p.Glu725Asp)
2g.1540633G>TCA345696093TPOc.2658G>T (p.Glu886Asp)
c.2526G>T (p.Glu842Asp)
c.2139G>T (p.Glu713Asp)
c.2487G>T (p.Glu829Asp)
c.2313G>T (p.Glu771Asp)
n.321G>T
c.1043-1788G>T
c.948G>T (p.Glu316Asp)
n.273-1788G>T
n.910-1788G>T
c.2619-1788G>T (n.2619-1788G>T)
c.2355G>T (p.Glu785Asp)
n.3834-1788G>T
c.2655-1788G>T (n.2655-1788G>T)
c.2562G>T (p.Glu854Asp)
c.2694G>T (p.Glu898Asp)
c.2523G>T (p.Glu841Asp)
c.2391G>T (p.Glu797Asp)
c.2175G>T (p.Glu725Asp)
2g.1540634A>CCA345696094TPOc.2659A>C (p.Thr887Pro)
c.2527A>C (p.Thr843Pro)
c.2140A>C (p.Thr714Pro)
c.2488A>C (p.Thr830Pro)
c.2314A>C (p.Thr772Pro)
n.322A>C
c.1043-1787A>C
c.949A>C (p.Thr317Pro)
n.273-1787A>C
n.910-1787A>C
c.2619-1787A>C (n.2619-1787A>C)
c.2356A>C (p.Thr786Pro)
n.3834-1787A>C
c.2655-1787A>C (n.2655-1787A>C)
c.2563A>C (p.Thr855Pro)
c.2695A>C (p.Thr899Pro)
c.2524A>C (p.Thr842Pro)
c.2392A>C (p.Thr798Pro)
c.2176A>C (p.Thr726Pro)
2g.1540634A>GCA345696095TPOc.2659A>G (p.Thr887Ala)
c.2527A>G (p.Thr843Ala)
c.2140A>G (p.Thr714Ala)
c.2488A>G (p.Thr830Ala)
c.2314A>G (p.Thr772Ala)
n.322A>G
c.1043-1787A>G
c.949A>G (p.Thr317Ala)
n.273-1787A>G
n.910-1787A>G
c.2619-1787A>G (n.2619-1787A>G)
c.2356A>G (p.Thr786Ala)
n.3834-1787A>G
c.2655-1787A>G (n.2655-1787A>G)
c.2563A>G (p.Thr855Ala)
c.2695A>G (p.Thr899Ala)
c.2524A>G (p.Thr842Ala)
c.2392A>G (p.Thr798Ala)
c.2176A>G (p.Thr726Ala)
2g.1540634A>TCA345696096TPOc.2659A>T (p.Thr887Ser)
c.2527A>T (p.Thr843Ser)
c.2140A>T (p.Thr714Ser)
c.2488A>T (p.Thr830Ser)
c.2314A>T (p.Thr772Ser)
n.322A>T
c.1043-1787A>T
c.949A>T (p.Thr317Ser)
n.273-1787A>T
n.910-1787A>T
c.2619-1787A>T (n.2619-1787A>T)
c.2356A>T (p.Thr786Ser)
n.3834-1787A>T
c.2655-1787A>T (n.2655-1787A>T)
c.2563A>T (p.Thr855Ser)
c.2695A>T (p.Thr899Ser)
c.2524A>T (p.Thr842Ser)
c.2392A>T (p.Thr798Ser)
c.2176A>T (p.Thr726Ser)
2g.1540635C>ACA345696097TPOc.2660C>A (p.Thr887Lys)
c.2528C>A (p.Thr843Lys)
c.2141C>A (p.Thr714Lys)
c.2489C>A (p.Thr830Lys)
c.2315C>A (p.Thr772Lys)
n.323C>A
c.1043-1786C>A
c.950C>A (p.Thr317Lys)
n.273-1786C>A
n.910-1786C>A
c.2619-1786C>A (n.2619-1786C>A)
c.2357C>A (p.Thr786Lys)
n.3834-1786C>A
c.2655-1786C>A (n.2655-1786C>A)
c.2564C>A (p.Thr855Lys)
c.2696C>A (p.Thr899Lys)
c.2525C>A (p.Thr842Lys)
c.2393C>A (p.Thr798Lys)
c.2177C>A (p.Thr726Lys)
2g.1540635C>GCA345696098TPOc.2660C>G (p.Thr887Arg)
c.2528C>G (p.Thr843Arg)
c.2141C>G (p.Thr714Arg)
c.2489C>G (p.Thr830Arg)
c.2315C>G (p.Thr772Arg)
n.323C>G
c.1043-1786C>G
c.950C>G (p.Thr317Arg)
n.273-1786C>G
n.910-1786C>G
c.2619-1786C>G (n.2619-1786C>G)
c.2357C>G (p.Thr786Arg)
n.3834-1786C>G
c.2655-1786C>G (n.2655-1786C>G)
c.2564C>G (p.Thr855Arg)
c.2696C>G (p.Thr899Arg)
c.2525C>G (p.Thr842Arg)
c.2393C>G (p.Thr798Arg)
c.2177C>G (p.Thr726Arg)
2g.1540635C>TCA345696099TPOc.2660C>T (p.Thr887Ile)
c.2528C>T (p.Thr843Ile)
c.2141C>T (p.Thr714Ile)
c.2489C>T (p.Thr830Ile)
c.2315C>T (p.Thr772Ile)
n.323C>T
c.1043-1786C>T
c.950C>T (p.Thr317Ile)
n.273-1786C>T
n.910-1786C>T
c.2619-1786C>T (n.2619-1786C>T)
c.2357C>T (p.Thr786Ile)
n.3834-1786C>T
c.2655-1786C>T (n.2655-1786C>T)
c.2564C>T (p.Thr855Ile)
c.2696C>T (p.Thr899Ile)
c.2525C>T (p.Thr842Ile)
c.2393C>T (p.Thr798Ile)
c.2177C>T (p.Thr726Ile)
2g.1540636A>CCA424757079TPOc.2661A>C (p.Thr887=)
c.2529A>C (p.Thr843=)
c.2142A>C (p.Thr714=)
c.2490A>C (p.Thr830=)
c.2316A>C (p.Thr772=)
n.324A>C
c.1043-1785A>C
c.951A>C (p.Thr317=)
n.273-1785A>C
n.910-1785A>C
c.2619-1785A>C (n.2619-1785A>C)
c.2358A>C (p.Thr786=)
n.3834-1785A>C
c.2655-1785A>C (n.2655-1785A>C)
c.2565A>C (p.Thr855=)
c.2697A>C (p.Thr899=)
c.2526A>C (p.Thr842=)
c.2394A>C (p.Thr798=)
c.2178A>C (p.Thr726=)
2g.1540636A>GCA424757081TPOc.2661A>G (p.Thr887=)
c.2529A>G (p.Thr843=)
c.2142A>G (p.Thr714=)
c.2490A>G (p.Thr830=)
c.2316A>G (p.Thr772=)
n.324A>G
c.1043-1785A>G
c.951A>G (p.Thr317=)
n.273-1785A>G
n.910-1785A>G
c.2619-1785A>G (n.2619-1785A>G)
c.2358A>G (p.Thr786=)
n.3834-1785A>G
c.2655-1785A>G (n.2655-1785A>G)
c.2565A>G (p.Thr855=)
c.2697A>G (p.Thr899=)
c.2526A>G (p.Thr842=)
c.2394A>G (p.Thr798=)
c.2178A>G (p.Thr726=)
2g.1540636A>TCA424757083TPOc.2661A>T (p.Thr887=)
c.2529A>T (p.Thr843=)
c.2142A>T (p.Thr714=)
c.2490A>T (p.Thr830=)
c.2316A>T (p.Thr772=)
n.324A>T
c.1043-1785A>T
c.951A>T (p.Thr317=)
n.273-1785A>T
n.910-1785A>T
c.2619-1785A>T (n.2619-1785A>T)
c.2358A>T (p.Thr786=)
n.3834-1785A>T
c.2655-1785A>T (n.2655-1785A>T)
c.2565A>T (p.Thr855=)
c.2697A>T (p.Thr899=)
c.2526A>T (p.Thr842=)
c.2394A>T (p.Thr798=)
c.2178A>T (p.Thr726=)
2g.1540637G>ACA1512239TPOc.2662G>A (p.Gly888Ser)
c.2530G>A (p.Gly844Ser)
c.2143G>A (p.Gly715Ser)
c.2491G>A (p.Gly831Ser)
c.2317G>A (p.Gly773Ser)
n.325G>A
c.1043-1784G>A
c.952G>A (p.Gly318Ser)
n.273-1784G>A
n.910-1784G>A
c.2619-1784G>A (n.2619-1784G>A)
c.2359G>A (p.Gly787Ser)
n.3834-1784G>A
c.2655-1784G>A (n.2655-1784G>A)
c.2566G>A (p.Gly856Ser)
c.2698G>A (p.Gly900Ser)
c.2527G>A (p.Gly843Ser)
c.2395G>A (p.Gly799Ser)
c.2179G>A (p.Gly727Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540637G>CCA345696100TPOc.2662G>C (p.Gly888Arg)
c.2530G>C (p.Gly844Arg)
c.2143G>C (p.Gly715Arg)
c.2491G>C (p.Gly831Arg)
c.2317G>C (p.Gly773Arg)
n.325G>C
c.1043-1784G>C
c.952G>C (p.Gly318Arg)
n.273-1784G>C
n.910-1784G>C
c.2619-1784G>C (n.2619-1784G>C)
c.2359G>C (p.Gly787Arg)
n.3834-1784G>C
c.2655-1784G>C (n.2655-1784G>C)
c.2566G>C (p.Gly856Arg)
c.2698G>C (p.Gly900Arg)
c.2527G>C (p.Gly843Arg)
c.2395G>C (p.Gly799Arg)
c.2179G>C (p.Gly727Arg)
 gnomAD v4
2g.1540637G=CA1233609847TPOc.2662G= (p.Gly888=)
c.2530G= (p.Gly844=)
c.2143G= (p.Gly715=)
c.2491G= (p.Gly831=)
c.2317G= (p.Gly773=)
n.325G=
c.1043-1784G=
c.952G= (p.Gly318=)
n.273-1784G=
n.910-1784G=
c.2619-1784G= (n.2619-1784G=)
c.2359G= (p.Gly787=)
n.3834-1784G=
c.2655-1784G= (n.2655-1784G=)
c.2566G= (p.Gly856=)
c.2698G= (p.Gly900=)
c.2527G= (p.Gly843=)
c.2395G= (p.Gly799=)
c.2179G= (p.Gly727=)
2g.1540637G>TCA345696101TPOc.2662G>T (p.Gly888Cys)
c.2530G>T (p.Gly844Cys)
c.2143G>T (p.Gly715Cys)
c.2491G>T (p.Gly831Cys)
c.2317G>T (p.Gly773Cys)
n.325G>T
c.1043-1784G>T
c.952G>T (p.Gly318Cys)
n.273-1784G>T
n.910-1784G>T
c.2619-1784G>T (n.2619-1784G>T)
c.2359G>T (p.Gly787Cys)
n.3834-1784G>T
c.2655-1784G>T (n.2655-1784G>T)
c.2566G>T (p.Gly856Cys)
c.2698G>T (p.Gly900Cys)
c.2527G>T (p.Gly843Cys)
c.2395G>T (p.Gly799Cys)
c.2179G>T (p.Gly727Cys)
2g.1540638G>ACA345696102TPOc.2663G>A (p.Gly888Asp)
c.2531G>A (p.Gly844Asp)
c.2144G>A (p.Gly715Asp)
c.2492G>A (p.Gly831Asp)
c.2318G>A (p.Gly773Asp)
n.326G>A
c.1043-1783G>A
c.953G>A (p.Gly318Asp)
n.273-1783G>A
n.910-1783G>A
c.2619-1783G>A (n.2619-1783G>A)
c.2360G>A (p.Gly787Asp)
n.3834-1783G>A
c.2655-1783G>A (n.2655-1783G>A)
c.2567G>A (p.Gly856Asp)
c.2699G>A (p.Gly900Asp)
c.2528G>A (p.Gly843Asp)
c.2396G>A (p.Gly799Asp)
c.2180G>A (p.Gly727Asp)
2g.1540638G>CCA345696103TPOc.2663G>C (p.Gly888Ala)
c.2531G>C (p.Gly844Ala)
c.2144G>C (p.Gly715Ala)
c.2492G>C (p.Gly831Ala)
c.2318G>C (p.Gly773Ala)
n.326G>C
c.1043-1783G>C
c.953G>C (p.Gly318Ala)
n.273-1783G>C
n.910-1783G>C
c.2619-1783G>C (n.2619-1783G>C)
c.2360G>C (p.Gly787Ala)
n.3834-1783G>C
c.2655-1783G>C (n.2655-1783G>C)
c.2567G>C (p.Gly856Ala)
c.2699G>C (p.Gly900Ala)
c.2528G>C (p.Gly843Ala)
c.2396G>C (p.Gly799Ala)
c.2180G>C (p.Gly727Ala)
2g.1540638G>TCA345696104TPOc.2663G>T (p.Gly888Val)
c.2531G>T (p.Gly844Val)
c.2144G>T (p.Gly715Val)
c.2492G>T (p.Gly831Val)
c.2318G>T (p.Gly773Val)
n.326G>T
c.1043-1783G>T
c.953G>T (p.Gly318Val)
n.273-1783G>T
n.910-1783G>T
c.2619-1783G>T (n.2619-1783G>T)
c.2360G>T (p.Gly787Val)
n.3834-1783G>T
c.2655-1783G>T (n.2655-1783G>T)
c.2567G>T (p.Gly856Val)
c.2699G>T (p.Gly900Val)
c.2528G>T (p.Gly843Val)
c.2396G>T (p.Gly799Val)
c.2180G>T (p.Gly727Val)
2g.1540639C>ACA424757086TPOc.2664C>A (p.Gly888=)
c.2532C>A (p.Gly844=)
c.2145C>A (p.Gly715=)
c.2493C>A (p.Gly831=)
c.2319C>A (p.Gly773=)
n.327C>A
c.1043-1782C>A
c.954C>A (p.Gly318=)
n.273-1782C>A
n.910-1782C>A
c.2619-1782C>A (n.2619-1782C>A)
c.2361C>A (p.Gly787=)
n.3834-1782C>A
c.2655-1782C>A (n.2655-1782C>A)
c.2568C>A (p.Gly856=)
c.2700C>A (p.Gly900=)
c.2529C>A (p.Gly843=)
c.2397C>A (p.Gly799=)
c.2181C>A (p.Gly727=)
 ClinVar
2g.1540639C=CA1233609848TPOc.2664C= (p.Gly888=)
c.2532C= (p.Gly844=)
c.2145C= (p.Gly715=)
c.2493C= (p.Gly831=)
c.2319C= (p.Gly773=)
n.327C=
c.1043-1782C=
c.954C= (p.Gly318=)
n.273-1782C=
n.910-1782C=
c.2619-1782C= (n.2619-1782C=)
c.2361C= (p.Gly787=)
n.3834-1782C=
c.2655-1782C= (n.2655-1782C=)
c.2568C= (p.Gly856=)
c.2700C= (p.Gly900=)
c.2529C= (p.Gly843=)
c.2397C= (p.Gly799=)
c.2181C= (p.Gly727=)
2g.1540639C>GCA424757087TPOc.2664C>G (p.Gly888=)
c.2532C>G (p.Gly844=)
c.2145C>G (p.Gly715=)
c.2493C>G (p.Gly831=)
c.2319C>G (p.Gly773=)
n.327C>G
c.1043-1782C>G
c.954C>G (p.Gly318=)
n.273-1782C>G
n.910-1782C>G
c.2619-1782C>G (n.2619-1782C>G)
c.2361C>G (p.Gly787=)
n.3834-1782C>G
c.2655-1782C>G (n.2655-1782C>G)
c.2568C>G (p.Gly856=)
c.2700C>G (p.Gly900=)
c.2529C>G (p.Gly843=)
c.2397C>G (p.Gly799=)
c.2181C>G (p.Gly727=)
2g.1540639C>TCA1512240TPOc.2664C>T (p.Gly888=)
c.2532C>T (p.Gly844=)
c.2145C>T (p.Gly715=)
c.2493C>T (p.Gly831=)
c.2319C>T (p.Gly773=)
n.327C>T
c.1043-1782C>T
c.954C>T (p.Gly318=)
n.273-1782C>T
n.910-1782C>T
c.2619-1782C>T (n.2619-1782C>T)
c.2361C>T (p.Gly787=)
n.3834-1782C>T
c.2655-1782C>T (n.2655-1782C>T)
c.2568C>T (p.Gly856=)
c.2700C>T (p.Gly900=)
c.2529C>T (p.Gly843=)
c.2397C>T (p.Gly799=)
c.2181C>T (p.Gly727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1540640G>ACA1512241TPOc.2665G>A (p.Gly889Arg)
c.2533G>A (p.Gly845Arg)
c.2146G>A (p.Gly716Arg)
c.2494G>A (p.Gly832Arg)
c.2320G>A (p.Gly774Arg)
n.328G>A
c.1043-1781G>A
c.955G>A (p.Gly319Arg)
n.273-1781G>A
n.910-1781G>A
c.2619-1781G>A (n.2619-1781G>A)
c.2362G>A (p.Gly788Arg)
n.3834-1781G>A
c.2655-1781G>A (n.2655-1781G>A)
c.2569G>A (p.Gly857Arg)
c.2701G>A (p.Gly901Arg)
c.2530G>A (p.Gly844Arg)
c.2398G>A (p.Gly800Arg)
c.2182G>A (p.Gly728Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540640G>CCA345696105TPOc.2665G>C (p.Gly889Arg)
c.2533G>C (p.Gly845Arg)
c.2146G>C (p.Gly716Arg)
c.2494G>C (p.Gly832Arg)
c.2320G>C (p.Gly774Arg)
n.328G>C
c.1043-1781G>C
c.955G>C (p.Gly319Arg)
n.273-1781G>C
n.910-1781G>C
c.2619-1781G>C (n.2619-1781G>C)
c.2362G>C (p.Gly788Arg)
n.3834-1781G>C
c.2655-1781G>C (n.2655-1781G>C)
c.2569G>C (p.Gly857Arg)
c.2701G>C (p.Gly901Arg)
c.2530G>C (p.Gly844Arg)
c.2398G>C (p.Gly800Arg)
c.2182G>C (p.Gly728Arg)
2g.1540640G=CA1233609849TPOc.2665G= (p.Gly889=)
c.2533G= (p.Gly845=)
c.2146G= (p.Gly716=)
c.2494G= (p.Gly832=)
c.2320G= (p.Gly774=)
n.328G=
c.1043-1781G=
c.955G= (p.Gly319=)
n.273-1781G=
n.910-1781G=
c.2619-1781G= (n.2619-1781G=)
c.2362G= (p.Gly788=)
n.3834-1781G=
c.2655-1781G= (n.2655-1781G=)
c.2569G= (p.Gly857=)
c.2701G= (p.Gly901=)
c.2530G= (p.Gly844=)
c.2398G= (p.Gly800=)
c.2182G= (p.Gly728=)
2g.1540640G>TCA345696106TPOc.2665G>T (p.Gly889Ter)
c.2533G>T (p.Gly845Ter)
c.2146G>T (p.Gly716Ter)
c.2494G>T (p.Gly832Ter)
c.2320G>T (p.Gly774Ter)
n.328G>T
c.1043-1781G>T
c.955G>T (p.Gly319Ter)
n.273-1781G>T
n.910-1781G>T
c.2619-1781G>T (n.2619-1781G>T)
c.2362G>T (p.Gly788Ter)
n.3834-1781G>T
c.2655-1781G>T (n.2655-1781G>T)
c.2569G>T (p.Gly857Ter)
c.2701G>T (p.Gly901Ter)
c.2530G>T (p.Gly844Ter)
c.2398G>T (p.Gly800Ter)
c.2182G>T (p.Gly728Ter)
2g.1540640_1540659delCA530837235TPOc.2665_2684del (p.Gly889MetfsTer?)
c.2533_2552del (p.Gly845MetfsTer?)
c.2146_2165del (p.Gly716MetfsTer?)
c.2494_2513del (p.Gly832MetfsTer?)
c.2320_2339del (p.Gly774MetfsTer?)
n.328_347del
c.1043-1781_1043-1762del
c.955_974del (p.Gly319MetfsTer?)
n.273-1781_273-1762del
n.910-1781_910-1762del
c.2619-1781_2619-1762del (n.2619-1781_2619-1762del)
c.2362_2381del (p.Gly788MetfsTer?)
n.3834-1781_3834-1762del
c.2655-1781_2655-1762del (n.2655-1781_2655-1762del)
c.2569_2588del (p.Gly857MetfsTer?)
c.2701_2720del (p.Gly901MetfsTer?)
c.2530_2549del (p.Gly844MetfsTer?)
c.2398_2417del (p.Gly800MetfsTer?)
c.2182_2201del (p.Gly728MetfsTer?)
 gnomAD v2 gnomAD v4
2g.1540641G>ACA345696107TPOc.2666G>A (p.Gly889Glu)
c.2534G>A (p.Gly845Glu)
c.2147G>A (p.Gly716Glu)
c.2495G>A (p.Gly832Glu)
c.2321G>A (p.Gly774Glu)
n.329G>A
c.1043-1780G>A
c.956G>A (p.Gly319Glu)
n.273-1780G>A
n.910-1780G>A
c.2619-1780G>A (n.2619-1780G>A)
c.2363G>A (p.Gly788Glu)
n.3834-1780G>A
c.2655-1780G>A (n.2655-1780G>A)
c.2570G>A (p.Gly857Glu)
c.2702G>A (p.Gly901Glu)
c.2531G>A (p.Gly844Glu)
c.2399G>A (p.Gly800Glu)
c.2183G>A (p.Gly728Glu)
2g.1540641G>CCA1512242TPOc.2666G>C (p.Gly889Ala)
c.2534G>C (p.Gly845Ala)
c.2147G>C (p.Gly716Ala)
c.2495G>C (p.Gly832Ala)
c.2321G>C (p.Gly774Ala)
n.329G>C
c.1043-1780G>C
c.956G>C (p.Gly319Ala)
n.273-1780G>C
n.910-1780G>C
c.2619-1780G>C (n.2619-1780G>C)
c.2363G>C (p.Gly788Ala)
n.3834-1780G>C
c.2655-1780G>C (n.2655-1780G>C)
c.2570G>C (p.Gly857Ala)
c.2702G>C (p.Gly901Ala)
c.2531G>C (p.Gly844Ala)
c.2399G>C (p.Gly800Ala)
c.2183G>C (p.Gly728Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540641G=CA1233609850TPOc.2666G= (p.Gly889=)
c.2534G= (p.Gly845=)
c.2147G= (p.Gly716=)
c.2495G= (p.Gly832=)
c.2321G= (p.Gly774=)
n.329G=
c.1043-1780G=
c.956G= (p.Gly319=)
n.273-1780G=
n.910-1780G=
c.2619-1780G= (n.2619-1780G=)
c.2363G= (p.Gly788=)
n.3834-1780G=
c.2655-1780G= (n.2655-1780G=)
c.2570G= (p.Gly857=)
c.2702G= (p.Gly901=)
c.2531G= (p.Gly844=)
c.2399G= (p.Gly800=)
c.2183G= (p.Gly728=)
2g.1540641G>TCA345696108TPOc.2666G>T (p.Gly889Val)
c.2534G>T (p.Gly845Val)
c.2147G>T (p.Gly716Val)
c.2495G>T (p.Gly832Val)
c.2321G>T (p.Gly774Val)
n.329G>T
c.1043-1780G>T
c.956G>T (p.Gly319Val)
n.273-1780G>T
n.910-1780G>T
c.2619-1780G>T (n.2619-1780G>T)
c.2363G>T (p.Gly788Val)
n.3834-1780G>T
c.2655-1780G>T (n.2655-1780G>T)
c.2570G>T (p.Gly857Val)
c.2702G>T (p.Gly901Val)
c.2531G>T (p.Gly844Val)
c.2399G>T (p.Gly800Val)
c.2183G>T (p.Gly728Val)
 dbSNP
2g.1540642A=CA1233609851TPOc.2667A= (p.Gly889=)
c.2535A= (p.Gly845=)
c.2148A= (p.Gly716=)
c.2496A= (p.Gly832=)
c.2322A= (p.Gly774=)
n.330A=
c.1043-1779A=
c.957A= (p.Gly319=)
n.273-1779A=
n.910-1779A=
c.2619-1779A= (n.2619-1779A=)
c.2364A= (p.Gly788=)
n.3834-1779A=
c.2655-1779A= (n.2655-1779A=)
c.2571A= (p.Gly857=)
c.2703A= (p.Gly901=)
c.2532A= (p.Gly844=)
c.2400A= (p.Gly800=)
c.2184A= (p.Gly728=)
2g.1540642A>CCA1512243TPOc.2667A>C (p.Gly889=)
c.2535A>C (p.Gly845=)
c.2148A>C (p.Gly716=)
c.2496A>C (p.Gly832=)
c.2322A>C (p.Gly774=)
n.330A>C
c.1043-1779A>C
c.957A>C (p.Gly319=)
n.273-1779A>C
n.910-1779A>C
c.2619-1779A>C (n.2619-1779A>C)
c.2364A>C (p.Gly788=)
n.3834-1779A>C
c.2655-1779A>C (n.2655-1779A>C)
c.2571A>C (p.Gly857=)
c.2703A>C (p.Gly901=)
c.2532A>C (p.Gly844=)
c.2400A>C (p.Gly800=)
c.2184A>C (p.Gly728=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540642A>GCA424757093TPOc.2667A>G (p.Gly889=)
c.2535A>G (p.Gly845=)
c.2148A>G (p.Gly716=)
c.2496A>G (p.Gly832=)
c.2322A>G (p.Gly774=)
n.330A>G
c.1043-1779A>G
c.957A>G (p.Gly319=)
n.273-1779A>G
n.910-1779A>G
c.2619-1779A>G (n.2619-1779A>G)
c.2364A>G (p.Gly788=)
n.3834-1779A>G
c.2655-1779A>G (n.2655-1779A>G)
c.2571A>G (p.Gly857=)
c.2703A>G (p.Gly901=)
c.2532A>G (p.Gly844=)
c.2400A>G (p.Gly800=)
c.2184A>G (p.Gly728=)
2g.1540642A>TCA424757092TPOc.2667A>T (p.Gly889=)
c.2535A>T (p.Gly845=)
c.2148A>T (p.Gly716=)
c.2496A>T (p.Gly832=)
c.2322A>T (p.Gly774=)
n.330A>T
c.1043-1779A>T
c.957A>T (p.Gly319=)
n.273-1779A>T
n.910-1779A>T
c.2619-1779A>T (n.2619-1779A>T)
c.2364A>T (p.Gly788=)
n.3834-1779A>T
c.2655-1779A>T (n.2655-1779A>T)
c.2571A>T (p.Gly857=)
c.2703A>T (p.Gly901=)
c.2532A>T (p.Gly844=)
c.2400A>T (p.Gly800=)
c.2184A>T (p.Gly728=)
2g.1540643G>ACA345696109TPOc.2668G>A (p.Gly890Arg)
c.2536G>A (p.Gly846Arg)
c.2149G>A (p.Gly717Arg)
c.2497G>A (p.Gly833Arg)
c.2323G>A (p.Gly775Arg)
n.331G>A
c.1043-1778G>A
c.958G>A (p.Gly320Arg)
n.273-1778G>A
n.910-1778G>A
c.2619-1778G>A (n.2619-1778G>A)
c.2365G>A (p.Gly789Arg)
n.3834-1778G>A
c.2655-1778G>A (n.2655-1778G>A)
c.2572G>A (p.Gly858Arg)
c.2704G>A (p.Gly902Arg)
c.2533G>A (p.Gly845Arg)
c.2401G>A (p.Gly801Arg)
c.2185G>A (p.Gly729Arg)
 gnomAD v4
2g.1540643G>CCA345696110TPOc.2668G>C (p.Gly890Arg)
c.2536G>C (p.Gly846Arg)
c.2149G>C (p.Gly717Arg)
c.2497G>C (p.Gly833Arg)
c.2323G>C (p.Gly775Arg)
n.331G>C
c.1043-1778G>C
c.958G>C (p.Gly320Arg)
n.273-1778G>C
n.910-1778G>C
c.2619-1778G>C (n.2619-1778G>C)
c.2365G>C (p.Gly789Arg)
n.3834-1778G>C
c.2655-1778G>C (n.2655-1778G>C)
c.2572G>C (p.Gly858Arg)
c.2704G>C (p.Gly902Arg)
c.2533G>C (p.Gly845Arg)
c.2401G>C (p.Gly801Arg)
c.2185G>C (p.Gly729Arg)
2g.1540643G>TCA345696111TPOc.2668G>T (p.Gly890Ter)
c.2536G>T (p.Gly846Ter)
c.2149G>T (p.Gly717Ter)
c.2497G>T (p.Gly833Ter)
c.2323G>T (p.Gly775Ter)
n.331G>T
c.1043-1778G>T
c.958G>T (p.Gly320Ter)
n.273-1778G>T
n.910-1778G>T
c.2619-1778G>T (n.2619-1778G>T)
c.2365G>T (p.Gly789Ter)
n.3834-1778G>T
c.2655-1778G>T (n.2655-1778G>T)
c.2572G>T (p.Gly858Ter)
c.2704G>T (p.Gly902Ter)
c.2533G>T (p.Gly845Ter)
c.2401G>T (p.Gly801Ter)
c.2185G>T (p.Gly729Ter)
2g.1540644delCA2697547805TPOc.2669del (p.Gly890GlufsTer5)
c.2537del (p.Gly846GlufsTer5)
c.2150del (p.Gly717GlufsTer5)
c.2498del (p.Gly833GlufsTer5)
c.2324del (p.Gly775GlufsTer5)
n.332del
c.1043-1777del
c.959del (p.Gly320GlufsTer5)
n.273-1777del
n.910-1777del
c.2619-1777del (n.2619-1777del)
c.2366del (p.Gly789GlufsTer5)
n.3834-1777del
c.2655-1777del (n.2655-1777del)
c.2573del (p.Gly858GlufsTer5)
c.2705del (p.Gly902GlufsTer5)
c.2534del (p.Gly845GlufsTer5)
c.2402del (p.Gly801GlufsTer5)
c.2186del (p.Gly729GlufsTer5)
 ClinVar
2g.1540644G>ACA345696112TPOc.2669G>A (p.Gly890Glu)
c.2537G>A (p.Gly846Glu)
c.2150G>A (p.Gly717Glu)
c.2498G>A (p.Gly833Glu)
c.2324G>A (p.Gly775Glu)
n.332G>A
c.1043-1777G>A
c.959G>A (p.Gly320Glu)
n.273-1777G>A
n.910-1777G>A
c.2619-1777G>A (n.2619-1777G>A)
c.2366G>A (p.Gly789Glu)
n.3834-1777G>A
c.2655-1777G>A (n.2655-1777G>A)
c.2573G>A (p.Gly858Glu)
c.2705G>A (p.Gly902Glu)
c.2534G>A (p.Gly845Glu)
c.2402G>A (p.Gly801Glu)
c.2186G>A (p.Gly729Glu)
 gnomAD v4 COSMIC
2g.1540644G>CCA345696113TPOc.2669G>C (p.Gly890Ala)
c.2537G>C (p.Gly846Ala)
c.2150G>C (p.Gly717Ala)
c.2498G>C (p.Gly833Ala)
c.2324G>C (p.Gly775Ala)
n.332G>C
c.1043-1777G>C
c.959G>C (p.Gly320Ala)
n.273-1777G>C
n.910-1777G>C
c.2619-1777G>C (n.2619-1777G>C)
c.2366G>C (p.Gly789Ala)
n.3834-1777G>C
c.2655-1777G>C (n.2655-1777G>C)
c.2573G>C (p.Gly858Ala)
c.2705G>C (p.Gly902Ala)
c.2534G>C (p.Gly845Ala)
c.2402G>C (p.Gly801Ala)
c.2186G>C (p.Gly729Ala)
2g.1540644G=CA1233609852TPOc.2669G= (p.Gly890=)
c.2537G= (p.Gly846=)
c.2150G= (p.Gly717=)
c.2498G= (p.Gly833=)
c.2324G= (p.Gly775=)
n.332G=
c.1043-1777G=
c.959G= (p.Gly320=)
n.273-1777G=
n.910-1777G=
c.2619-1777G= (n.2619-1777G=)
c.2366G= (p.Gly789=)
n.3834-1777G=
c.2655-1777G= (n.2655-1777G=)
c.2573G= (p.Gly858=)
c.2705G= (p.Gly902=)
c.2534G= (p.Gly845=)
c.2402G= (p.Gly801=)
c.2186G= (p.Gly729=)
2g.1540644G>TCA345696114TPOc.2669G>T (p.Gly890Val)
c.2537G>T (p.Gly846Val)
c.2150G>T (p.Gly717Val)
c.2498G>T (p.Gly833Val)
c.2324G>T (p.Gly775Val)
n.332G>T
c.1043-1777G>T
c.959G>T (p.Gly320Val)
n.273-1777G>T
n.910-1777G>T
c.2619-1777G>T (n.2619-1777G>T)
c.2366G>T (p.Gly789Val)
n.3834-1777G>T
c.2655-1777G>T (n.2655-1777G>T)
c.2573G>T (p.Gly858Val)
c.2705G>T (p.Gly902Val)
c.2534G>T (p.Gly845Val)
c.2402G>T (p.Gly801Val)
c.2186G>T (p.Gly729Val)
 dbSNP gnomAD v3 gnomAD v4
2g.1540645A=CA1233609853TPOc.2670A= (p.Gly890=)
c.2538A= (p.Gly846=)
c.2151A= (p.Gly717=)
c.2499A= (p.Gly833=)
c.2325A= (p.Gly775=)
n.333A=
c.1043-1776A=
c.960A= (p.Gly320=)
n.273-1776A=
n.910-1776A=
c.2619-1776A= (n.2619-1776A=)
c.2367A= (p.Gly789=)
n.3834-1776A=
c.2655-1776A= (n.2655-1776A=)
c.2574A= (p.Gly858=)
c.2706A= (p.Gly902=)
c.2535A= (p.Gly845=)
c.2403A= (p.Gly801=)
c.2187A= (p.Gly729=)
2g.1540645A>CCA424757097TPOc.2670A>C (p.Gly890=)
c.2538A>C (p.Gly846=)
c.2151A>C (p.Gly717=)
c.2499A>C (p.Gly833=)
c.2325A>C (p.Gly775=)
n.333A>C
c.1043-1776A>C
c.960A>C (p.Gly320=)
n.273-1776A>C
n.910-1776A>C
c.2619-1776A>C (n.2619-1776A>C)
c.2367A>C (p.Gly789=)
n.3834-1776A>C
c.2655-1776A>C (n.2655-1776A>C)
c.2574A>C (p.Gly858=)
c.2706A>C (p.Gly902=)
c.2535A>C (p.Gly845=)
c.2403A>C (p.Gly801=)
c.2187A>C (p.Gly729=)
2g.1540645A>GCA424757098TPOc.2670A>G (p.Gly890=)
c.2538A>G (p.Gly846=)
c.2151A>G (p.Gly717=)
c.2499A>G (p.Gly833=)
c.2325A>G (p.Gly775=)
n.333A>G
c.1043-1776A>G
c.960A>G (p.Gly320=)
n.273-1776A>G
n.910-1776A>G
c.2619-1776A>G (n.2619-1776A>G)
c.2367A>G (p.Gly789=)
n.3834-1776A>G
c.2655-1776A>G (n.2655-1776A>G)
c.2574A>G (p.Gly858=)
c.2706A>G (p.Gly902=)
c.2535A>G (p.Gly845=)
c.2403A>G (p.Gly801=)
c.2187A>G (p.Gly729=)
 dbSNP gnomAD v4
2g.1540645A>TCA424757099TPOc.2670A>T (p.Gly890=)
c.2538A>T (p.Gly846=)
c.2151A>T (p.Gly717=)
c.2499A>T (p.Gly833=)
c.2325A>T (p.Gly775=)
n.333A>T
c.1043-1776A>T
c.960A>T (p.Gly320=)
n.273-1776A>T
n.910-1776A>T
c.2619-1776A>T (n.2619-1776A>T)
c.2367A>T (p.Gly789=)
n.3834-1776A>T
c.2655-1776A>T (n.2655-1776A>T)
c.2574A>T (p.Gly858=)
c.2706A>T (p.Gly902=)
c.2535A>T (p.Gly845=)
c.2403A>T (p.Gly801=)
c.2187A>T (p.Gly729=)
2g.1540646A>CCA345696116TPOc.2671A>C (p.Thr891Pro)
c.2539A>C (p.Thr847Pro)
c.2152A>C (p.Thr718Pro)
c.2500A>C (p.Thr834Pro)
c.2326A>C (p.Thr776Pro)
n.334A>C
c.1043-1775A>C
c.961A>C (p.Thr321Pro)
n.273-1775A>C
n.910-1775A>C
c.2619-1775A>C (n.2619-1775A>C)
c.2368A>C (p.Thr790Pro)
n.3834-1775A>C
c.2655-1775A>C (n.2655-1775A>C)
c.2575A>C (p.Thr859Pro)
c.2707A>C (p.Thr903Pro)
c.2536A>C (p.Thr846Pro)
c.2404A>C (p.Thr802Pro)
c.2188A>C (p.Thr730Pro)
2g.1540646A>GCA345696117TPOc.2671A>G (p.Thr891Ala)
c.2539A>G (p.Thr847Ala)
c.2152A>G (p.Thr718Ala)
c.2500A>G (p.Thr834Ala)
c.2326A>G (p.Thr776Ala)
n.334A>G
c.1043-1775A>G
c.961A>G (p.Thr321Ala)
n.273-1775A>G
n.910-1775A>G
c.2619-1775A>G (n.2619-1775A>G)
c.2368A>G (p.Thr790Ala)
n.3834-1775A>G
c.2655-1775A>G (n.2655-1775A>G)
c.2575A>G (p.Thr859Ala)
c.2707A>G (p.Thr903Ala)
c.2536A>G (p.Thr846Ala)
c.2404A>G (p.Thr802Ala)
c.2188A>G (p.Thr730Ala)
 gnomAD v4
2g.1540646A>TCA345696115TPOc.2671A>T (p.Thr891Ser)
c.2539A>T (p.Thr847Ser)
c.2152A>T (p.Thr718Ser)
c.2500A>T (p.Thr834Ser)
c.2326A>T (p.Thr776Ser)
n.334A>T
c.1043-1775A>T
c.961A>T (p.Thr321Ser)
n.273-1775A>T
n.910-1775A>T
c.2619-1775A>T (n.2619-1775A>T)
c.2368A>T (p.Thr790Ser)
n.3834-1775A>T
c.2655-1775A>T (n.2655-1775A>T)
c.2575A>T (p.Thr859Ser)
c.2707A>T (p.Thr903Ser)
c.2536A>T (p.Thr846Ser)
c.2404A>T (p.Thr802Ser)
c.2188A>T (p.Thr730Ser)
2g.1540647C>ACA345696120TPOc.2672C>A (p.Thr891Asn)
c.2540C>A (p.Thr847Asn)
c.2153C>A (p.Thr718Asn)
c.2501C>A (p.Thr834Asn)
c.2327C>A (p.Thr776Asn)
n.335C>A
c.1043-1774C>A
c.962C>A (p.Thr321Asn)
n.273-1774C>A
n.910-1774C>A
c.2619-1774C>A (n.2619-1774C>A)
c.2369C>A (p.Thr790Asn)
n.3834-1774C>A
c.2655-1774C>A (n.2655-1774C>A)
c.2576C>A (p.Thr859Asn)
c.2708C>A (p.Thr903Asn)
c.2537C>A (p.Thr846Asn)
c.2405C>A (p.Thr802Asn)
c.2189C>A (p.Thr730Asn)
2g.1540647C=CA1233609854TPOc.2672C= (p.Thr891=)
c.2540C= (p.Thr847=)
c.2153C= (p.Thr718=)
c.2501C= (p.Thr834=)
c.2327C= (p.Thr776=)
n.335C=
c.1043-1774C=
c.962C= (p.Thr321=)
n.273-1774C=
n.910-1774C=
c.2619-1774C= (n.2619-1774C=)
c.2369C= (p.Thr790=)
n.3834-1774C=
c.2655-1774C= (n.2655-1774C=)
c.2576C= (p.Thr859=)
c.2708C= (p.Thr903=)
c.2537C= (p.Thr846=)
c.2405C= (p.Thr802=)
c.2189C= (p.Thr730=)
2g.1540647C>GCA345696118TPOc.2672C>G (p.Thr891Ser)
c.2540C>G (p.Thr847Ser)
c.2153C>G (p.Thr718Ser)
c.2501C>G (p.Thr834Ser)
c.2327C>G (p.Thr776Ser)
n.335C>G
c.1043-1774C>G
c.962C>G (p.Thr321Ser)
n.273-1774C>G
n.910-1774C>G
c.2619-1774C>G (n.2619-1774C>G)
c.2369C>G (p.Thr790Ser)
n.3834-1774C>G
c.2655-1774C>G (n.2655-1774C>G)
c.2576C>G (p.Thr859Ser)
c.2708C>G (p.Thr903Ser)
c.2537C>G (p.Thr846Ser)
c.2405C>G (p.Thr802Ser)
c.2189C>G (p.Thr730Ser)
2g.1540647C>TCA345696119TPOc.2672C>T (p.Thr891Ile)
c.2540C>T (p.Thr847Ile)
c.2153C>T (p.Thr718Ile)
c.2501C>T (p.Thr834Ile)
c.2327C>T (p.Thr776Ile)
n.335C>T
c.1043-1774C>T
c.962C>T (p.Thr321Ile)
n.273-1774C>T
n.910-1774C>T
c.2619-1774C>T (n.2619-1774C>T)
c.2369C>T (p.Thr790Ile)
n.3834-1774C>T
c.2655-1774C>T (n.2655-1774C>T)
c.2576C>T (p.Thr859Ile)
c.2708C>T (p.Thr903Ile)
c.2537C>T (p.Thr846Ile)
c.2405C>T (p.Thr802Ile)
c.2189C>T (p.Thr730Ile)
 gnomAD v4
2g.1540648T>ACA424757102TPOc.2673T>A (p.Thr891=)
c.2541T>A (p.Thr847=)
c.2154T>A (p.Thr718=)
c.2502T>A (p.Thr834=)
c.2328T>A (p.Thr776=)
n.336T>A
c.1043-1773T>A
c.963T>A (p.Thr321=)
n.273-1773T>A
n.910-1773T>A
c.2619-1773T>A (n.2619-1773T>A)
c.2370T>A (p.Thr790=)
n.3834-1773T>A
c.2655-1773T>A (n.2655-1773T>A)
c.2577T>A (p.Thr859=)
c.2709T>A (p.Thr903=)
c.2538T>A (p.Thr846=)
c.2406T>A (p.Thr802=)
c.2190T>A (p.Thr730=)
2g.1540648T>CCA424757103TPOc.2673T>C (p.Thr891=)
c.2541T>C (p.Thr847=)
c.2154T>C (p.Thr718=)
c.2502T>C (p.Thr834=)
c.2328T>C (p.Thr776=)
n.336T>C
c.1043-1773T>C
c.963T>C (p.Thr321=)
n.273-1773T>C
n.910-1773T>C
c.2619-1773T>C (n.2619-1773T>C)
c.2370T>C (p.Thr790=)
n.3834-1773T>C
c.2655-1773T>C (n.2655-1773T>C)
c.2577T>C (p.Thr859=)
c.2709T>C (p.Thr903=)
c.2538T>C (p.Thr846=)
c.2406T>C (p.Thr802=)
c.2190T>C (p.Thr730=)
2g.1540648T>GCA424757104TPOc.2673T>G (p.Thr891=)
c.2541T>G (p.Thr847=)
c.2154T>G (p.Thr718=)
c.2502T>G (p.Thr834=)
c.2328T>G (p.Thr776=)
n.336T>G
c.1043-1773T>G
c.963T>G (p.Thr321=)
n.273-1773T>G
n.910-1773T>G
c.2619-1773T>G (n.2619-1773T>G)
c.2370T>G (p.Thr790=)
n.3834-1773T>G
c.2655-1773T>G (n.2655-1773T>G)
c.2577T>G (p.Thr859=)
c.2709T>G (p.Thr903=)
c.2538T>G (p.Thr846=)
c.2406T>G (p.Thr802=)
c.2190T>G (p.Thr730=)
 gnomAD v4
2g.1540648_1540649delinsTCCA1233609855TPOc.2673_2674delinsTC (p.Thr891=)
c.2541_2542delinsTC (p.Thr847=)
c.2154_2155delinsTC (p.Thr718=)
c.2502_2503delinsTC (p.Thr834=)
c.2328_2329delinsTC (p.Thr776=)
n.336_337delinsTC
c.1043-1773_1043-1772delinsTC
c.963_964delinsTC (p.Thr321=)
n.273-1773_273-1772delinsTC
n.910-1773_910-1772delinsTC
c.2619-1773_2619-1772delinsTC (n.2619-1773_2619-1772delinsTC)
c.2370_2371delinsTC (p.Thr790=)
n.3834-1773_3834-1772delinsTC
c.2655-1773_2655-1772delinsTC (n.2655-1773_2655-1772delinsTC)
c.2577_2578delinsTC (p.Thr859=)
c.2709_2710delinsTC (p.Thr903=)
c.2538_2539delinsTC (p.Thr846=)
c.2406_2407delinsTC (p.Thr802=)
c.2190_2191delinsTC (p.Thr730=)
2g.1540648_1540667dupCA1512244TPOc.2673_2692dup (p.Lys898IlefsTer4)
c.2541_2560dup (p.Lys854IlefsTer4)
c.2154_2173dup (p.Lys725IlefsTer4)
c.2502_2521dup (p.Lys841IlefsTer4)
c.2328_2347dup (p.Lys783IlefsTer4)
n.336_355dup
c.1043-1773_1043-1754dup
c.963_982dup (p.Lys328IlefsTer4)
n.273-1773_273-1754dup
n.910-1773_910-1754dup
c.2619-1773_2619-1754dup (n.2619-1773_2619-1754dup)
c.2370_2389dup (p.Lys797IlefsTer4)
n.3834-1773_3834-1754dup
c.2655-1773_2655-1754dup (n.2655-1773_2655-1754dup)
c.2577_2596dup (p.Lys866IlefsTer4)
c.2709_2728dup (p.Lys910IlefsTer4)
c.2538_2557dup (p.Lys853IlefsTer4)
c.2406_2425dup (p.Lys809IlefsTer4)
c.2190_2209dup (p.Lys737IlefsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540649C>ACA345696121TPOc.2674C>A (p.Pro892Thr)
c.2542C>A (p.Pro848Thr)
c.2155C>A (p.Pro719Thr)
c.2503C>A (p.Pro835Thr)
c.2329C>A (p.Pro777Thr)
n.337C>A
c.1043-1772C>A
c.964C>A (p.Pro322Thr)
n.273-1772C>A
n.910-1772C>A
c.2619-1772C>A (n.2619-1772C>A)
c.2371C>A (p.Pro791Thr)
n.3834-1772C>A
c.2655-1772C>A (n.2655-1772C>A)
c.2578C>A (p.Pro860Thr)
c.2710C>A (p.Pro904Thr)
c.2539C>A (p.Pro847Thr)
c.2407C>A (p.Pro803Thr)
c.2191C>A (p.Pro731Thr)
2g.1540649C=CA1233609857TPOc.2674C= (p.Pro892=)
c.2542C= (p.Pro848=)
c.2155C= (p.Pro719=)
c.2503C= (p.Pro835=)
c.2329C= (p.Pro777=)
n.337C=
c.1043-1772C=
c.964C= (p.Pro322=)
n.273-1772C=
n.910-1772C=
c.2619-1772C= (n.2619-1772C=)
c.2371C= (p.Pro791=)
n.3834-1772C=
c.2655-1772C= (n.2655-1772C=)
c.2578C= (p.Pro860=)
c.2710C= (p.Pro904=)
c.2539C= (p.Pro847=)
c.2407C= (p.Pro803=)
c.2191C= (p.Pro731=)
2g.1540649C>GCA345696122TPOc.2674C>G (p.Pro892Ala)
c.2542C>G (p.Pro848Ala)
c.2155C>G (p.Pro719Ala)
c.2503C>G (p.Pro835Ala)
c.2329C>G (p.Pro777Ala)
n.337C>G
c.1043-1772C>G
c.964C>G (p.Pro322Ala)
n.273-1772C>G
n.910-1772C>G
c.2619-1772C>G (n.2619-1772C>G)
c.2371C>G (p.Pro791Ala)
n.3834-1772C>G
c.2655-1772C>G (n.2655-1772C>G)
c.2578C>G (p.Pro860Ala)
c.2710C>G (p.Pro904Ala)
c.2539C>G (p.Pro847Ala)
c.2407C>G (p.Pro803Ala)
c.2191C>G (p.Pro731Ala)
 dbSNP gnomAD v4
2g.1540649C>TCA345696123TPOc.2674C>T (p.Pro892Ser)
c.2542C>T (p.Pro848Ser)
c.2155C>T (p.Pro719Ser)
c.2503C>T (p.Pro835Ser)
c.2329C>T (p.Pro777Ser)
n.337C>T
c.1043-1772C>T
c.964C>T (p.Pro322Ser)
n.273-1772C>T
n.910-1772C>T
c.2619-1772C>T (n.2619-1772C>T)
c.2371C>T (p.Pro791Ser)
n.3834-1772C>T
c.2655-1772C>T (n.2655-1772C>T)
c.2578C>T (p.Pro860Ser)
c.2710C>T (p.Pro904Ser)
c.2539C>T (p.Pro847Ser)
c.2407C>T (p.Pro803Ser)
c.2191C>T (p.Pro731Ser)
2g.1540651delCA1233609856TPOc.2676del (p.Glu893SerfsTer2)
c.2544del (p.Glu849SerfsTer2)
c.2157del (p.Glu720SerfsTer2)
c.2505del (p.Glu836SerfsTer2)
c.2331del (p.Glu778SerfsTer2)
n.339del
c.1043-1770del
c.966del (p.Glu323SerfsTer2)
n.273-1770del
n.910-1770del
c.2619-1770del (n.2619-1770del)
c.2373del (p.Glu792SerfsTer2)
n.3834-1770del
c.2655-1770del (n.2655-1770del)
c.2580del (p.Glu861SerfsTer2)
c.2712del (p.Glu905SerfsTer2)
c.2541del (p.Glu848SerfsTer2)
c.2409del (p.Glu804SerfsTer2)
c.2193del (p.Glu732SerfsTer2)
 dbSNP
2g.1540650C>ACA41406249TPOc.2675C>A (p.Pro892His)
c.2543C>A (p.Pro848His)
c.2156C>A (p.Pro719His)
c.2504C>A (p.Pro835His)
c.2330C>A (p.Pro777His)
n.338C>A
c.1043-1771C>A
c.965C>A (p.Pro322His)
n.273-1771C>A
n.910-1771C>A
c.2619-1771C>A (n.2619-1771C>A)
c.2372C>A (p.Pro791His)
n.3834-1771C>A
c.2655-1771C>A (n.2655-1771C>A)
c.2579C>A (p.Pro860His)
c.2711C>A (p.Pro904His)
c.2540C>A (p.Pro847His)
c.2408C>A (p.Pro803His)
c.2192C>A (p.Pro731His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.1540650C=CA1233609858TPOc.2675C= (p.Pro892=)
c.2543C= (p.Pro848=)
c.2156C= (p.Pro719=)
c.2504C= (p.Pro835=)
c.2330C= (p.Pro777=)
n.338C=
c.1043-1771C=
c.965C= (p.Pro322=)
n.273-1771C=
n.910-1771C=
c.2619-1771C= (n.2619-1771C=)
c.2372C= (p.Pro791=)
n.3834-1771C=
c.2655-1771C= (n.2655-1771C=)
c.2579C= (p.Pro860=)
c.2711C= (p.Pro904=)
c.2540C= (p.Pro847=)
c.2408C= (p.Pro803=)
c.2192C= (p.Pro731=)
2g.1540650C>GCA345696124TPOc.2675C>G (p.Pro892Arg)
c.2543C>G (p.Pro848Arg)
c.2156C>G (p.Pro719Arg)
c.2504C>G (p.Pro835Arg)
c.2330C>G (p.Pro777Arg)
n.338C>G
c.1043-1771C>G
c.965C>G (p.Pro322Arg)
n.273-1771C>G
n.910-1771C>G
c.2619-1771C>G (n.2619-1771C>G)
c.2372C>G (p.Pro791Arg)
n.3834-1771C>G
c.2655-1771C>G (n.2655-1771C>G)
c.2579C>G (p.Pro860Arg)
c.2711C>G (p.Pro904Arg)
c.2540C>G (p.Pro847Arg)
c.2408C>G (p.Pro803Arg)
c.2192C>G (p.Pro731Arg)
 gnomAD v4
2g.1540650C>TCA345696125TPOc.2675C>T (p.Pro892Leu)
c.2543C>T (p.Pro848Leu)
c.2156C>T (p.Pro719Leu)
c.2504C>T (p.Pro835Leu)
c.2330C>T (p.Pro777Leu)
n.338C>T
c.1043-1771C>T
c.965C>T (p.Pro322Leu)
n.273-1771C>T
n.910-1771C>T
c.2619-1771C>T (n.2619-1771C>T)
c.2372C>T (p.Pro791Leu)
n.3834-1771C>T
c.2655-1771C>T (n.2655-1771C>T)
c.2579C>T (p.Pro860Leu)
c.2711C>T (p.Pro904Leu)
c.2540C>T (p.Pro847Leu)
c.2408C>T (p.Pro803Leu)
c.2192C>T (p.Pro731Leu)
2g.1540651C>ACA424757106TPOc.2676C>A (p.Pro892=)
c.2544C>A (p.Pro848=)
c.2157C>A (p.Pro719=)
c.2505C>A (p.Pro835=)
c.2331C>A (p.Pro777=)
n.339C>A
c.1043-1770C>A
c.966C>A (p.Pro322=)
n.273-1770C>A
n.910-1770C>A
c.2619-1770C>A (n.2619-1770C>A)
c.2373C>A (p.Pro791=)
n.3834-1770C>A
c.2655-1770C>A (n.2655-1770C>A)
c.2580C>A (p.Pro860=)
c.2712C>A (p.Pro904=)
c.2541C>A (p.Pro847=)
c.2409C>A (p.Pro803=)
c.2193C>A (p.Pro731=)
2g.1540651C=CA1233609859TPOc.2676C= (p.Pro892=)
c.2544C= (p.Pro848=)
c.2157C= (p.Pro719=)
c.2505C= (p.Pro835=)
c.2331C= (p.Pro777=)
n.339C=
c.1043-1770C=
c.966C= (p.Pro322=)
n.273-1770C=
n.910-1770C=
c.2619-1770C= (n.2619-1770C=)
c.2373C= (p.Pro791=)
n.3834-1770C=
c.2655-1770C= (n.2655-1770C=)
c.2580C= (p.Pro860=)
c.2712C= (p.Pro904=)
c.2541C= (p.Pro847=)
c.2409C= (p.Pro803=)
c.2193C= (p.Pro731=)
2g.1540651C>GCA1512245TPOc.2676C>G (p.Pro892=)
c.2544C>G (p.Pro848=)
c.2157C>G (p.Pro719=)
c.2505C>G (p.Pro835=)
c.2331C>G (p.Pro777=)
n.339C>G
c.1043-1770C>G
c.966C>G (p.Pro322=)
n.273-1770C>G
n.910-1770C>G
c.2619-1770C>G (n.2619-1770C>G)
c.2373C>G (p.Pro791=)
n.3834-1770C>G
c.2655-1770C>G (n.2655-1770C>G)
c.2580C>G (p.Pro860=)
c.2712C>G (p.Pro904=)
c.2541C>G (p.Pro847=)
c.2409C>G (p.Pro803=)
c.2193C>G (p.Pro731=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1540651C>TCA424757107TPOc.2676C>T (p.Pro892=)
c.2544C>T (p.Pro848=)
c.2157C>T (p.Pro719=)
c.2505C>T (p.Pro835=)
c.2331C>T (p.Pro777=)
n.339C>T
c.1043-1770C>T
c.966C>T (p.Pro322=)
n.273-1770C>T
n.910-1770C>T
c.2619-1770C>T (n.2619-1770C>T)
c.2373C>T (p.Pro791=)
n.3834-1770C>T
c.2655-1770C>T (n.2655-1770C>T)
c.2580C>T (p.Pro860=)
c.2712C>T (p.Pro904=)
c.2541C>T (p.Pro847=)
c.2409C>T (p.Pro803=)
c.2193C>T (p.Pro731=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.1540653_1540664dupCA2576700694TPOc.2678_2689dup (p.Cys896_Gly897insGluLeuArgCys)
c.2546_2557dup (p.Cys852_Gly853insGluLeuArgCys)
c.2159_2170dup (p.Cys723_Gly724insGluLeuArgCys)
c.2507_2518dup (p.Cys839_Gly840insGluLeuArgCys)
c.2333_2344dup (p.Cys781_Gly782insGluLeuArgCys)
n.341_352dup
c.1043-1768_1043-1757dup
c.968_979dup (p.Cys326_Gly327insGluLeuArgCys)
n.273-1768_273-1757dup
n.910-1768_910-1757dup
c.2619-1768_2619-1757dup (n.2619-1768_2619-1757dup)
c.2375_2386dup (p.Cys795_Gly796insGluLeuArgCys)
n.3834-1768_3834-1757dup
c.2655-1768_2655-1757dup (n.2655-1768_2655-1757dup)
c.2582_2593dup (p.Cys864_Gly865insGluLeuArgCys)
c.2714_2725dup (p.Cys908_Gly909insGluLeuArgCys)
c.2543_2554dup (p.Cys851_Gly852insGluLeuArgCys)
c.2411_2422dup (p.Cys807_Gly808insGluLeuArgCys)
c.2195_2206dup (p.Cys735_Gly736insGluLeuArgCys)
 gnomAD v4
2g.1540652G>ACA345696126TPOc.2677G>A (p.Glu893Lys)
c.2545G>A (p.Glu849Lys)
c.2158G>A (p.Glu720Lys)
c.2506G>A (p.Glu836Lys)
c.2332G>A (p.Glu778Lys)
n.340G>A
c.1043-1769G>A
c.967G>A (p.Glu323Lys)
n.273-1769G>A
n.910-1769G>A
c.2619-1769G>A (n.2619-1769G>A)
c.2374G>A (p.Glu792Lys)
n.3834-1769G>A
c.2655-1769G>A (n.2655-1769G>A)
c.2581G>A (p.Glu861Lys)
c.2713G>A (p.Glu905Lys)
c.2542G>A (p.Glu848Lys)
c.2410G>A (p.Glu804Lys)
c.2194G>A (p.Glu732Lys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.1540652G>CCA345696127TPOc.2677G>C (p.Glu893Gln)
c.2545G>C (p.Glu849Gln)
c.2158G>C (p.Glu720Gln)
c.2506G>C (p.Glu836Gln)
c.2332G>C (p.Glu778Gln)
n.340G>C
c.1043-1769G>C
c.967G>C (p.Glu323Gln)
n.273-1769G>C
n.910-1769G>C
c.2619-1769G>C (n.2619-1769G>C)
c.2374G>C (p.Glu792Gln)
n.3834-1769G>C
c.2655-1769G>C (n.2655-1769G>C)
c.2581G>C (p.Glu861Gln)
c.2713G>C (p.Glu905Gln)
c.2542G>C (p.Glu848Gln)
c.2410G>C (p.Glu804Gln)
c.2194G>C (p.Glu732Gln)
2g.1540652G=CA1233609860TPOc.2677G= (p.Glu893=)
c.2545G= (p.Glu849=)
c.2158G= (p.Glu720=)
c.2506G= (p.Glu836=)
c.2332G= (p.Glu778=)
n.340G=
c.1043-1769G=
c.967G= (p.Glu323=)
n.273-1769G=
n.910-1769G=
c.2619-1769G= (n.2619-1769G=)
c.2374G= (p.Glu792=)
n.3834-1769G=
c.2655-1769G= (n.2655-1769G=)
c.2581G= (p.Glu861=)
c.2713G= (p.Glu905=)
c.2542G= (p.Glu848=)
c.2410G= (p.Glu804=)
c.2194G= (p.Glu732=)
2g.1540652G>TCA345696128TPOc.2677G>T (p.Glu893Ter)
c.2545G>T (p.Glu849Ter)
c.2158G>T (p.Glu720Ter)
c.2506G>T (p.Glu836Ter)
c.2332G>T (p.Glu778Ter)
n.340G>T
c.1043-1769G>T
c.967G>T (p.Glu323Ter)
n.273-1769G>T
n.910-1769G>T
c.2619-1769G>T (n.2619-1769G>T)
c.2374G>T (p.Glu792Ter)
n.3834-1769G>T
c.2655-1769G>T (n.2655-1769G>T)
c.2581G>T (p.Glu861Ter)
c.2713G>T (p.Glu905Ter)
c.2542G>T (p.Glu848Ter)
c.2410G>T (p.Glu804Ter)
c.2194G>T (p.Glu732Ter)
2g.1540653A>CCA345696131TPOc.2678A>C (p.Glu893Ala)
c.2546A>C (p.Glu849Ala)
c.2159A>C (p.Glu720Ala)
c.2507A>C (p.Glu836Ala)
c.2333A>C (p.Glu778Ala)
n.341A>C
c.1043-1768A>C
c.968A>C (p.Glu323Ala)
n.273-1768A>C
n.910-1768A>C
c.2619-1768A>C (n.2619-1768A>C)
c.2375A>C (p.Glu792Ala)
n.3834-1768A>C
c.2655-1768A>C (n.2655-1768A>C)
c.2582A>C (p.Glu861Ala)
c.2714A>C (p.Glu905Ala)
c.2543A>C (p.Glu848Ala)
c.2411A>C (p.Glu804Ala)
c.2195A>C (p.Glu732Ala)
 gnomAD v4
2g.1540653A>GCA345696129TPOc.2678A>G (p.Glu893Gly)
c.2546A>G (p.Glu849Gly)
c.2159A>G (p.Glu720Gly)
c.2507A>G (p.Glu836Gly)
c.2333A>G (p.Glu778Gly)
n.341A>G
c.1043-1768A>G
c.968A>G (p.Glu323Gly)
n.273-1768A>G
n.910-1768A>G
c.2619-1768A>G (n.2619-1768A>G)
c.2375A>G (p.Glu792Gly)
n.3834-1768A>G
c.2655-1768A>G (n.2655-1768A>G)
c.2582A>G (p.Glu861Gly)
c.2714A>G (p.Glu905Gly)
c.2543A>G (p.Glu848Gly)
c.2411A>G (p.Glu804Gly)
c.2195A>G (p.Glu732Gly)
2g.1540653A>TCA345696130TPOc.2678A>T (p.Glu893Val)
c.2546A>T (p.Glu849Val)
c.2159A>T (p.Glu720Val)
c.2507A>T (p.Glu836Val)
c.2333A>T (p.Glu778Val)
n.341A>T
c.1043-1768A>T
c.968A>T (p.Glu323Val)
n.273-1768A>T
n.910-1768A>T
c.2619-1768A>T (n.2619-1768A>T)
c.2375A>T (p.Glu792Val)
n.3834-1768A>T
c.2655-1768A>T (n.2655-1768A>T)
c.2582A>T (p.Glu861Val)
c.2714A>T (p.Glu905Val)
c.2543A>T (p.Glu848Val)
c.2411A>T (p.Glu804Val)
c.2195A>T (p.Glu732Val)
2g.1540654G>ACA424757113TPOc.2679G>A (p.Glu893=)
c.2547G>A (p.Glu849=)
c.2160G>A (p.Glu720=)
c.2508G>A (p.Glu836=)
c.2334G>A (p.Glu778=)
n.342G>A
c.1043-1767G>A
c.969G>A (p.Glu323=)
n.273-1767G>A
n.910-1767G>A
c.2619-1767G>A (n.2619-1767G>A)
c.2376G>A (p.Glu792=)
n.3834-1767G>A
c.2655-1767G>A (n.2655-1767G>A)
c.2583G>A (p.Glu861=)
c.2715G>A (p.Glu905=)
c.2544G>A (p.Glu848=)
c.2412G>A (p.Glu804=)
c.2196G>A (p.Glu732=)
 gnomAD v4
2g.1540654G>CCA345696132TPOc.2679G>C (p.Glu893Asp)
c.2547G>C (p.Glu849Asp)
c.2160G>C (p.Glu720Asp)
c.2508G>C (p.Glu836Asp)
c.2334G>C (p.Glu778Asp)
n.342G>C
c.1043-1767G>C
c.969G>C (p.Glu323Asp)
n.273-1767G>C
n.910-1767G>C
c.2619-1767G>C (n.2619-1767G>C)
c.2376G>C (p.Glu792Asp)
n.3834-1767G>C
c.2655-1767G>C (n.2655-1767G>C)
c.2583G>C (p.Glu861Asp)
c.2715G>C (p.Glu905Asp)
c.2544G>C (p.Glu848Asp)
c.2412G>C (p.Glu804Asp)
c.2196G>C (p.Glu732Asp)
2g.1540654G>TCA345696133TPOc.2679G>T (p.Glu893Asp)
c.2547G>T (p.Glu849Asp)
c.2160G>T (p.Glu720Asp)
c.2508G>T (p.Glu836Asp)
c.2334G>T (p.Glu778Asp)
n.342G>T
c.1043-1767G>T
c.969G>T (p.Glu323Asp)
n.273-1767G>T
n.910-1767G>T
c.2619-1767G>T (n.2619-1767G>T)
c.2376G>T (p.Glu792Asp)
n.3834-1767G>T
c.2655-1767G>T (n.2655-1767G>T)
c.2583G>T (p.Glu861Asp)
c.2715G>T (p.Glu905Asp)
c.2544G>T (p.Glu848Asp)
c.2412G>T (p.Glu804Asp)
c.2196G>T (p.Glu732Asp)
2g.1540655_1540679dupCA2657648016TPOc.2680_2704dup (p.Val902AlafsTer?)
c.2548_2572dup (p.Val858AlafsTer?)
c.2161_2185dup (p.Val729AlafsTer?)
c.2509_2533dup (p.Val845AlafsTer?)
c.2335_2359dup (p.Val787AlafsTer?)
n.343_367dup
c.1043-1766_1043-1742dup
c.970_994dup (p.Val332AlafsTer?)
n.273-1766_273-1742dup
n.910-1766_910-1742dup
c.2619-1766_2619-1742dup (n.2619-1766_2619-1742dup)
c.2377_2401dup (p.Val801AlafsTer?)
n.3834-1766_3834-1742dup
c.2655-1766_2655-1742dup (n.2655-1766_2655-1742dup)
c.2584_2608dup (p.Val870AlafsTer?)
c.2716_2740dup (p.Val914AlafsTer?)
c.2545_2569dup (p.Val857AlafsTer?)
c.2413_2437dup (p.Val813AlafsTer?)
c.2197_2221dup (p.Val741AlafsTer?)
 gnomAD v4
2g.1540655C>ACA345696134TPOc.2680C>A (p.Leu894Met)
c.2548C>A (p.Leu850Met)
c.2161C>A (p.Leu721Met)
c.2509C>A (p.Leu837Met)
c.2335C>A (p.Leu779Met)
n.343C>A
c.1043-1766C>A
c.970C>A (p.Leu324Met)
n.273-1766C>A
n.910-1766C>A
c.2619-1766C>A (n.2619-1766C>A)
c.2377C>A (p.Leu793Met)
n.3834-1766C>A
c.2655-1766C>A (n.2655-1766C>A)
c.2584C>A (p.Leu862Met)
c.2716C>A (p.Leu906Met)
c.2545C>A (p.Leu849Met)
c.2413C>A (p.Leu805Met)
c.2197C>A (p.Leu733Met)
2g.1540655C=CA1233609861TPOc.2680C= (p.Leu894=)
c.2548C= (p.Leu850=)
c.2161C= (p.Leu721=)
c.2509C= (p.Leu837=)
c.2335C= (p.Leu779=)
n.343C=
c.1043-1766C=
c.970C= (p.Leu324=)
n.273-1766C=
n.910-1766C=
c.2619-1766C= (n.2619-1766C=)
c.2377C= (p.Leu793=)
n.3834-1766C=
c.2655-1766C= (n.2655-1766C=)
c.2584C= (p.Leu862=)
c.2716C= (p.Leu906=)
c.2545C= (p.Leu849=)
c.2413C= (p.Leu805=)
c.2197C= (p.Leu733=)
2g.1540655C>GCA345696135TPOc.2680C>G (p.Leu894Val)
c.2548C>G (p.Leu850Val)
c.2161C>G (p.Leu721Val)
c.2509C>G (p.Leu837Val)
c.2335C>G (p.Leu779Val)
n.343C>G
c.1043-1766C>G
c.970C>G (p.Leu324Val)
n.273-1766C>G
n.910-1766C>G
c.2619-1766C>G (n.2619-1766C>G)
c.2377C>G (p.Leu793Val)
n.3834-1766C>G
c.2655-1766C>G (n.2655-1766C>G)
c.2584C>G (p.Leu862Val)
c.2716C>G (p.Leu906Val)
c.2545C>G (p.Leu849Val)
c.2413C>G (p.Leu805Val)
c.2197C>G (p.Leu733Val)
 dbSNP
2g.1540655C>TCA424757114TPOc.2680C>T (p.Leu894=)
c.2548C>T (p.Leu850=)
c.2161C>T (p.Leu721=)
c.2509C>T (p.Leu837=)
c.2335C>T (p.Leu779=)
n.343C>T
c.1043-1766C>T
c.970C>T (p.Leu324=)
n.273-1766C>T
n.910-1766C>T
c.2619-1766C>T (n.2619-1766C>T)
c.2377C>T (p.Leu793=)
n.3834-1766C>T
c.2655-1766C>T (n.2655-1766C>T)
c.2584C>T (p.Leu862=)
c.2716C>T (p.Leu906=)
c.2545C>T (p.Leu849=)
c.2413C>T (p.Leu805=)
c.2197C>T (p.Leu733=)
 gnomAD v4
2g.1540656T>ACA345696136TPOc.2681T>A (p.Leu894Gln)
c.2549T>A (p.Leu850Gln)
c.2162T>A (p.Leu721Gln)
c.2510T>A (p.Leu837Gln)
c.2336T>A (p.Leu779Gln)
n.344T>A
c.1043-1765T>A
c.971T>A (p.Leu324Gln)
n.273-1765T>A
n.910-1765T>A
c.2619-1765T>A (n.2619-1765T>A)
c.2378T>A (p.Leu793Gln)
n.3834-1765T>A
c.2655-1765T>A (n.2655-1765T>A)
c.2585T>A (p.Leu862Gln)
c.2717T>A (p.Leu906Gln)
c.2546T>A (p.Leu849Gln)
c.2414T>A (p.Leu805Gln)
c.2198T>A (p.Leu733Gln)
2g.1540656T>CCA345696137TPOc.2681T>C (p.Leu894Pro)
c.2549T>C (p.Leu850Pro)
c.2162T>C (p.Leu721Pro)
c.2510T>C (p.Leu837Pro)
c.2336T>C (p.Leu779Pro)
n.344T>C
c.1043-1765T>C
c.971T>C (p.Leu324Pro)
n.273-1765T>C
n.910-1765T>C
c.2619-1765T>C (n.2619-1765T>C)
c.2378T>C (p.Leu793Pro)
n.3834-1765T>C
c.2655-1765T>C (n.2655-1765T>C)
c.2585T>C (p.Leu862Pro)
c.2717T>C (p.Leu906Pro)
c.2546T>C (p.Leu849Pro)
c.2414T>C (p.Leu805Pro)
c.2198T>C (p.Leu733Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.1540656T>GCA345696138TPOc.2681T>G (p.Leu894Arg)
c.2549T>G (p.Leu850Arg)
c.2162T>G (p.Leu721Arg)
c.2510T>G (p.Leu837Arg)
c.2336T>G (p.Leu779Arg)
n.344T>G
c.1043-1765T>G
c.971T>G (p.Leu324Arg)
n.273-1765T>G
n.910-1765T>G
c.2619-1765T>G (n.2619-1765T>G)
c.2378T>G (p.Leu793Arg)
n.3834-1765T>G
c.2655-1765T>G (n.2655-1765T>G)
c.2585T>G (p.Leu862Arg)
c.2717T>G (p.Leu906Arg)
c.2546T>G (p.Leu849Arg)
c.2414T>G (p.Leu805Arg)
c.2198T>G (p.Leu733Arg)
2g.1540656T=CA1233609862TPOc.2681T= (p.Leu894=)
c.2549T= (p.Leu850=)
c.2162T= (p.Leu721=)
c.2510T= (p.Leu837=)
c.2336T= (p.Leu779=)
n.344T=
c.1043-1765T=
c.971T= (p.Leu324=)
n.273-1765T=
n.910-1765T=
c.2619-1765T= (n.2619-1765T=)
c.2378T= (p.Leu793=)
n.3834-1765T=
c.2655-1765T= (n.2655-1765T=)
c.2585T= (p.Leu862=)
c.2717T= (p.Leu906=)
c.2546T= (p.Leu849=)
c.2414T= (p.Leu805=)
c.2198T= (p.Leu733=)
2g.1540657G>ACA1512246TPOc.2682G>A (p.Leu894=)
c.2550G>A (p.Leu850=)
c.2163G>A (p.Leu721=)
c.2511G>A (p.Leu837=)
c.2337G>A (p.Leu779=)
n.345G>A
c.1043-1764G>A
c.972G>A (p.Leu324=)
n.273-1764G>A
n.910-1764G>A
c.2619-1764G>A (n.2619-1764G>A)
c.2379G>A (p.Leu793=)
n.3834-1764G>A
c.2655-1764G>A (n.2655-1764G>A)
c.2586G>A (p.Leu862=)
c.2718G>A (p.Leu906=)
c.2547G>A (p.Leu849=)
c.2415G>A (p.Leu805=)
c.2199G>A (p.Leu733=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540657G>CCA424757121TPOc.2682G>C (p.Leu894=)
c.2550G>C (p.Leu850=)
c.2163G>C (p.Leu721=)
c.2511G>C (p.Leu837=)
c.2337G>C (p.Leu779=)
n.345G>C
c.1043-1764G>C
c.972G>C (p.Leu324=)
n.273-1764G>C
n.910-1764G>C
c.2619-1764G>C (n.2619-1764G>C)
c.2379G>C (p.Leu793=)
n.3834-1764G>C
c.2655-1764G>C (n.2655-1764G>C)
c.2586G>C (p.Leu862=)
c.2718G>C (p.Leu906=)
c.2547G>C (p.Leu849=)
c.2415G>C (p.Leu805=)
c.2199G>C (p.Leu733=)
2g.1540657G=CA1233609863TPOc.2682G= (p.Leu894=)
c.2550G= (p.Leu850=)
c.2163G= (p.Leu721=)
c.2511G= (p.Leu837=)
c.2337G= (p.Leu779=)
n.345G=
c.1043-1764G=
c.972G= (p.Leu324=)
n.273-1764G=
n.910-1764G=
c.2619-1764G= (n.2619-1764G=)
c.2379G= (p.Leu793=)
n.3834-1764G=
c.2655-1764G= (n.2655-1764G=)
c.2586G= (p.Leu862=)
c.2718G= (p.Leu906=)
c.2547G= (p.Leu849=)
c.2415G= (p.Leu805=)
c.2199G= (p.Leu733=)
2g.1540657G>TCA424757122TPOc.2682G>T (p.Leu894=)
c.2550G>T (p.Leu850=)
c.2163G>T (p.Leu721=)
c.2511G>T (p.Leu837=)
c.2337G>T (p.Leu779=)
n.345G>T
c.1043-1764G>T
c.972G>T (p.Leu324=)
n.273-1764G>T
n.910-1764G>T
c.2619-1764G>T (n.2619-1764G>T)
c.2379G>T (p.Leu793=)
n.3834-1764G>T
c.2655-1764G>T (n.2655-1764G>T)
c.2586G>T (p.Leu862=)
c.2718G>T (p.Leu906=)
c.2547G>T (p.Leu849=)
c.2415G>T (p.Leu805=)
c.2199G>T (p.Leu733=)
2g.1540658A>CCA424757123TPOc.2683A>C (p.Arg895=)
c.2551A>C (p.Arg851=)
c.2164A>C (p.Arg722=)
c.2512A>C (p.Arg838=)
c.2338A>C (p.Arg780=)
n.346A>C
c.1043-1763A>C
c.973A>C (p.Arg325=)
n.273-1763A>C
n.910-1763A>C
c.2619-1763A>C (n.2619-1763A>C)
c.2380A>C (p.Arg794=)
n.3834-1763A>C
c.2655-1763A>C (n.2655-1763A>C)
c.2587A>C (p.Arg863=)
c.2719A>C (p.Arg907=)
c.2548A>C (p.Arg850=)
c.2416A>C (p.Arg806=)
c.2200A>C (p.Arg734=)
2g.1540658A>GCA345696139TPOc.2683A>G (p.Arg895Gly)
c.2551A>G (p.Arg851Gly)
c.2164A>G (p.Arg722Gly)
c.2512A>G (p.Arg838Gly)
c.2338A>G (p.Arg780Gly)
n.346A>G
c.1043-1763A>G
c.973A>G (p.Arg325Gly)
n.273-1763A>G
n.910-1763A>G
c.2619-1763A>G (n.2619-1763A>G)
c.2380A>G (p.Arg794Gly)
n.3834-1763A>G
c.2655-1763A>G (n.2655-1763A>G)
c.2587A>G (p.Arg863Gly)
c.2719A>G (p.Arg907Gly)
c.2548A>G (p.Arg850Gly)
c.2416A>G (p.Arg806Gly)
c.2200A>G (p.Arg734Gly)
 dbSNP
2g.1540658A>TCA345696140TPOc.2683A>T (p.Arg895Ter)
c.2551A>T (p.Arg851Ter)
c.2164A>T (p.Arg722Ter)
c.2512A>T (p.Arg838Ter)
c.2338A>T (p.Arg780Ter)
n.346A>T
c.1043-1763A>T
c.973A>T (p.Arg325Ter)
n.273-1763A>T
n.910-1763A>T
c.2619-1763A>T (n.2619-1763A>T)
c.2380A>T (p.Arg794Ter)
n.3834-1763A>T
c.2655-1763A>T (n.2655-1763A>T)
c.2587A>T (p.Arg863Ter)
c.2719A>T (p.Arg907Ter)
c.2548A>T (p.Arg850Ter)
c.2416A>T (p.Arg806Ter)
c.2200A>T (p.Arg734Ter)
2g.1540659G>ACA345696141TPOc.2684G>A (p.Arg895Lys)
c.2552G>A (p.Arg851Lys)
c.2165G>A (p.Arg722Lys)
c.2513G>A (p.Arg838Lys)
c.2339G>A (p.Arg780Lys)
n.347G>A
c.1043-1762G>A
c.974G>A (p.Arg325Lys)
n.273-1762G>A
n.910-1762G>A
c.2619-1762G>A (n.2619-1762G>A)
c.2381G>A (p.Arg794Lys)
n.3834-1762G>A
c.2655-1762G>A (n.2655-1762G>A)
c.2588G>A (p.Arg863Lys)
c.2720G>A (p.Arg907Lys)
c.2549G>A (p.Arg850Lys)
c.2417G>A (p.Arg806Lys)
c.2201G>A (p.Arg734Lys)
 dbSNP COSMIC
2g.1540659G>CCA345696142TPOc.2684G>C (p.Arg895Thr)
c.2552G>C (p.Arg851Thr)
c.2165G>C (p.Arg722Thr)
c.2513G>C (p.Arg838Thr)
c.2339G>C (p.Arg780Thr)
n.347G>C
c.1043-1762G>C
c.974G>C (p.Arg325Thr)
n.273-1762G>C
n.910-1762G>C
c.2619-1762G>C (n.2619-1762G>C)
c.2381G>C (p.Arg794Thr)
n.3834-1762G>C
c.2655-1762G>C (n.2655-1762G>C)
c.2588G>C (p.Arg863Thr)
c.2720G>C (p.Arg907Thr)
c.2549G>C (p.Arg850Thr)
c.2417G>C (p.Arg806Thr)
c.2201G>C (p.Arg734Thr)
2g.1540659G=CA1233609864TPOc.2684G= (p.Arg895=)
c.2552G= (p.Arg851=)
c.2165G= (p.Arg722=)
c.2513G= (p.Arg838=)
c.2339G= (p.Arg780=)
n.347G=
c.1043-1762G=
c.974G= (p.Arg325=)
n.273-1762G=
n.910-1762G=
c.2619-1762G= (n.2619-1762G=)
c.2381G= (p.Arg794=)
n.3834-1762G=
c.2655-1762G= (n.2655-1762G=)
c.2588G= (p.Arg863=)
c.2720G= (p.Arg907=)
c.2549G= (p.Arg850=)
c.2417G= (p.Arg806=)
c.2201G= (p.Arg734=)
2g.1540659G>TCA345696143TPOc.2684G>T (p.Arg895Ile)
c.2552G>T (p.Arg851Ile)
c.2165G>T (p.Arg722Ile)
c.2513G>T (p.Arg838Ile)
c.2339G>T (p.Arg780Ile)
n.347G>T
c.1043-1762G>T
c.974G>T (p.Arg325Ile)
n.273-1762G>T
n.910-1762G>T
c.2619-1762G>T (n.2619-1762G>T)
c.2381G>T (p.Arg794Ile)
n.3834-1762G>T
c.2655-1762G>T (n.2655-1762G>T)
c.2588G>T (p.Arg863Ile)
c.2720G>T (p.Arg907Ile)
c.2549G>T (p.Arg850Ile)
c.2417G>T (p.Arg806Ile)
c.2201G>T (p.Arg734Ile)
2g.1540660A>CCA345696144TPOc.2685A>C (p.Arg895Ser)
c.2553A>C (p.Arg851Ser)
c.2166A>C (p.Arg722Ser)
c.2514A>C (p.Arg838Ser)
c.2340A>C (p.Arg780Ser)
n.348A>C
c.1043-1761A>C
c.975A>C (p.Arg325Ser)
n.273-1761A>C
n.910-1761A>C
c.2619-1761A>C (n.2619-1761A>C)
c.2382A>C (p.Arg794Ser)
n.3834-1761A>C
c.2655-1761A>C (n.2655-1761A>C)
c.2589A>C (p.Arg863Ser)
c.2721A>C (p.Arg907Ser)
c.2550A>C (p.Arg850Ser)
c.2418A>C (p.Arg806Ser)
c.2202A>C (p.Arg734Ser)
2g.1540660A>GCA424757124TPOc.2685A>G (p.Arg895=)
c.2553A>G (p.Arg851=)
c.2166A>G (p.Arg722=)
c.2514A>G (p.Arg838=)
c.2340A>G (p.Arg780=)
n.348A>G
c.1043-1761A>G
c.975A>G (p.Arg325=)
n.273-1761A>G
n.910-1761A>G
c.2619-1761A>G (n.2619-1761A>G)
c.2382A>G (p.Arg794=)
n.3834-1761A>G
c.2655-1761A>G (n.2655-1761A>G)
c.2589A>G (p.Arg863=)
c.2721A>G (p.Arg907=)
c.2550A>G (p.Arg850=)
c.2418A>G (p.Arg806=)
c.2202A>G (p.Arg734=)
2g.1540660A>TCA345696145TPOc.2685A>T (p.Arg895Ser)
c.2553A>T (p.Arg851Ser)
c.2166A>T (p.Arg722Ser)
c.2514A>T (p.Arg838Ser)
c.2340A>T (p.Arg780Ser)
n.348A>T
c.1043-1761A>T
c.975A>T (p.Arg325Ser)
n.273-1761A>T
n.910-1761A>T
c.2619-1761A>T (n.2619-1761A>T)
c.2382A>T (p.Arg794Ser)
n.3834-1761A>T
c.2655-1761A>T (n.2655-1761A>T)
c.2589A>T (p.Arg863Ser)
c.2721A>T (p.Arg907Ser)
c.2550A>T (p.Arg850Ser)
c.2418A>T (p.Arg806Ser)
c.2202A>T (p.Arg734Ser)
2g.1540661T>ACA345696146TPOc.2686T>A (p.Cys896Ser)
c.2554T>A (p.Cys852Ser)
c.2167T>A (p.Cys723Ser)
c.2515T>A (p.Cys839Ser)
c.2341T>A (p.Cys781Ser)
n.349T>A
c.1043-1760T>A
c.976T>A (p.Cys326Ser)
n.273-1760T>A
n.910-1760T>A
c.2619-1760T>A (n.2619-1760T>A)
c.2383T>A (p.Cys795Ser)
n.3834-1760T>A
c.2655-1760T>A (n.2655-1760T>A)
c.2590T>A (p.Cys864Ser)
c.2722T>A (p.Cys908Ser)
c.2551T>A (p.Cys851Ser)
c.2419T>A (p.Cys807Ser)
c.2203T>A (p.Cys735Ser)
2g.1540661T>CCA345696147TPOc.2686T>C (p.Cys896Arg)
c.2554T>C (p.Cys852Arg)
c.2167T>C (p.Cys723Arg)
c.2515T>C (p.Cys839Arg)
c.2341T>C (p.Cys781Arg)
n.349T>C
c.1043-1760T>C
c.976T>C (p.Cys326Arg)
n.273-1760T>C
n.910-1760T>C
c.2619-1760T>C (n.2619-1760T>C)
c.2383T>C (p.Cys795Arg)
n.3834-1760T>C
c.2655-1760T>C (n.2655-1760T>C)
c.2590T>C (p.Cys864Arg)
c.2722T>C (p.Cys908Arg)
c.2551T>C (p.Cys851Arg)
c.2419T>C (p.Cys807Arg)
c.2203T>C (p.Cys735Arg)
 gnomAD v4
2g.1540661T>GCA1512247TPOc.2686T>G (p.Cys896Gly)
c.2554T>G (p.Cys852Gly)
c.2167T>G (p.Cys723Gly)
c.2515T>G (p.Cys839Gly)
c.2341T>G (p.Cys781Gly)
n.349T>G
c.1043-1760T>G
c.976T>G (p.Cys326Gly)
n.273-1760T>G
n.910-1760T>G
c.2619-1760T>G (n.2619-1760T>G)
c.2383T>G (p.Cys795Gly)
n.3834-1760T>G
c.2655-1760T>G (n.2655-1760T>G)
c.2590T>G (p.Cys864Gly)
c.2722T>G (p.Cys908Gly)
c.2551T>G (p.Cys851Gly)
c.2419T>G (p.Cys807Gly)
c.2203T>G (p.Cys735Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540661T=CA1233609865TPOc.2686T= (p.Cys896=)
c.2554T= (p.Cys852=)
c.2167T= (p.Cys723=)
c.2515T= (p.Cys839=)
c.2341T= (p.Cys781=)
n.349T=
c.1043-1760T=
c.976T= (p.Cys326=)
n.273-1760T=
n.910-1760T=
c.2619-1760T= (n.2619-1760T=)
c.2383T= (p.Cys795=)
n.3834-1760T=
c.2655-1760T= (n.2655-1760T=)
c.2590T= (p.Cys864=)
c.2722T= (p.Cys908=)
c.2551T= (p.Cys851=)
c.2419T= (p.Cys807=)
c.2203T= (p.Cys735=)
2g.1540662G>ACA345696148TPOc.2687G>A (p.Cys896Tyr)
c.2555G>A (p.Cys852Tyr)
c.2168G>A (p.Cys723Tyr)
c.2516G>A (p.Cys839Tyr)
c.2342G>A (p.Cys781Tyr)
n.350G>A
c.1043-1759G>A
c.977G>A (p.Cys326Tyr)
n.273-1759G>A
n.910-1759G>A
c.2619-1759G>A (n.2619-1759G>A)
c.2384G>A (p.Cys795Tyr)
n.3834-1759G>A
c.2655-1759G>A (n.2655-1759G>A)
c.2591G>A (p.Cys864Tyr)
c.2723G>A (p.Cys908Tyr)
c.2552G>A (p.Cys851Tyr)
c.2420G>A (p.Cys807Tyr)
c.2204G>A (p.Cys735Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1540662G>CCA345696149TPOc.2687G>C (p.Cys896Ser)
c.2555G>C (p.Cys852Ser)
c.2168G>C (p.Cys723Ser)
c.2516G>C (p.Cys839Ser)
c.2342G>C (p.Cys781Ser)
n.350G>C
c.1043-1759G>C
c.977G>C (p.Cys326Ser)
n.273-1759G>C
n.910-1759G>C
c.2619-1759G>C (n.2619-1759G>C)
c.2384G>C (p.Cys795Ser)
n.3834-1759G>C
c.2655-1759G>C (n.2655-1759G>C)
c.2591G>C (p.Cys864Ser)
c.2723G>C (p.Cys908Ser)
c.2552G>C (p.Cys851Ser)
c.2420G>C (p.Cys807Ser)
c.2204G>C (p.Cys735Ser)
 COSMIC
2g.1540662G=CA1233609866TPOc.2687G= (p.Cys896=)
c.2555G= (p.Cys852=)
c.2168G= (p.Cys723=)
c.2516G= (p.Cys839=)
c.2342G= (p.Cys781=)
n.350G=
c.1043-1759G=
c.977G= (p.Cys326=)
n.273-1759G=
n.910-1759G=
c.2619-1759G= (n.2619-1759G=)
c.2384G= (p.Cys795=)
n.3834-1759G=
c.2655-1759G= (n.2655-1759G=)
c.2591G= (p.Cys864=)
c.2723G= (p.Cys908=)
c.2552G= (p.Cys851=)
c.2420G= (p.Cys807=)
c.2204G= (p.Cys735=)
2g.1540662G>TCA1512248TPOc.2687G>T (p.Cys896Phe)
c.2555G>T (p.Cys852Phe)
c.2168G>T (p.Cys723Phe)
c.2516G>T (p.Cys839Phe)
c.2342G>T (p.Cys781Phe)
n.350G>T
c.1043-1759G>T
c.977G>T (p.Cys326Phe)
n.273-1759G>T
n.910-1759G>T
c.2619-1759G>T (n.2619-1759G>T)
c.2384G>T (p.Cys795Phe)
n.3834-1759G>T
c.2655-1759G>T (n.2655-1759G>T)
c.2591G>T (p.Cys864Phe)
c.2723G>T (p.Cys908Phe)
c.2552G>T (p.Cys851Phe)
c.2420G>T (p.Cys807Phe)
c.2204G>T (p.Cys735Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540662_1540669dupCA2657648017TPOc.2687_2694dup (p.His899AlafsTer7)
c.2555_2562dup (p.His855AlafsTer7)
c.2168_2175dup (p.His726AlafsTer7)
c.2516_2523dup (p.His842AlafsTer7)
c.2342_2349dup (p.His784AlafsTer7)
n.350_357dup
c.1043-1759_1043-1752dup
c.977_984dup (p.His329AlafsTer7)
n.273-1759_273-1752dup
n.910-1759_910-1752dup
c.2619-1759_2619-1752dup (n.2619-1759_2619-1752dup)
c.2384_2391dup (p.His798AlafsTer7)
n.3834-1759_3834-1752dup
c.2655-1759_2655-1752dup (n.2655-1759_2655-1752dup)
c.2591_2598dup (p.His867AlafsTer7)
c.2723_2730dup (p.His911AlafsTer7)
c.2552_2559dup (p.His854AlafsTer7)
c.2420_2427dup (p.His810AlafsTer7)
c.2204_2211dup (p.His738AlafsTer7)
 gnomAD v4
2g.1540663C>ACA1512249TPOc.2688C>A (p.Cys896Ter)
c.2556C>A (p.Cys852Ter)
c.2169C>A (p.Cys723Ter)
c.2517C>A (p.Cys839Ter)
c.2343C>A (p.Cys781Ter)
n.351C>A
c.1043-1758C>A
c.978C>A (p.Cys326Ter)
n.273-1758C>A
n.910-1758C>A
c.2619-1758C>A (n.2619-1758C>A)
c.2385C>A (p.Cys795Ter)
n.3834-1758C>A
c.2655-1758C>A (n.2655-1758C>A)
c.2592C>A (p.Cys864Ter)
c.2724C>A (p.Cys908Ter)
c.2553C>A (p.Cys851Ter)
c.2421C>A (p.Cys807Ter)
c.2205C>A (p.Cys735Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540663C=CA1233609867TPOc.2688C= (p.Cys896=)
c.2556C= (p.Cys852=)
c.2169C= (p.Cys723=)
c.2517C= (p.Cys839=)
c.2343C= (p.Cys781=)
n.351C=
c.1043-1758C=
c.978C= (p.Cys326=)
n.273-1758C=
n.910-1758C=
c.2619-1758C= (n.2619-1758C=)
c.2385C= (p.Cys795=)
n.3834-1758C=
c.2655-1758C= (n.2655-1758C=)
c.2592C= (p.Cys864=)
c.2724C= (p.Cys908=)
c.2553C= (p.Cys851=)
c.2421C= (p.Cys807=)
c.2205C= (p.Cys735=)
2g.1540663C>GCA345696150TPOc.2688C>G (p.Cys896Trp)
c.2556C>G (p.Cys852Trp)
c.2169C>G (p.Cys723Trp)
c.2517C>G (p.Cys839Trp)
c.2343C>G (p.Cys781Trp)
n.351C>G
c.1043-1758C>G
c.978C>G (p.Cys326Trp)
n.273-1758C>G
n.910-1758C>G
c.2619-1758C>G (n.2619-1758C>G)
c.2385C>G (p.Cys795Trp)
n.3834-1758C>G
c.2655-1758C>G (n.2655-1758C>G)
c.2592C>G (p.Cys864Trp)
c.2724C>G (p.Cys908Trp)
c.2553C>G (p.Cys851Trp)
c.2421C>G (p.Cys807Trp)
c.2205C>G (p.Cys735Trp)
2g.1540663C>TCA424757131TPOc.2688C>T (p.Cys896=)
c.2556C>T (p.Cys852=)
c.2169C>T (p.Cys723=)
c.2517C>T (p.Cys839=)
c.2343C>T (p.Cys781=)
n.351C>T
c.1043-1758C>T
c.978C>T (p.Cys326=)
n.273-1758C>T
n.910-1758C>T
c.2619-1758C>T (n.2619-1758C>T)
c.2385C>T (p.Cys795=)
n.3834-1758C>T
c.2655-1758C>T (n.2655-1758C>T)
c.2592C>T (p.Cys864=)
c.2724C>T (p.Cys908=)
c.2553C>T (p.Cys851=)
c.2421C>T (p.Cys807=)
c.2205C>T (p.Cys735=)
 dbSNP gnomAD v2 gnomAD v4
2g.1540664G>ACA1512250TPOc.2689G>A (p.Gly897Arg)
c.2557G>A (p.Gly853Arg)
c.2170G>A (p.Gly724Arg)
c.2518G>A (p.Gly840Arg)
c.2344G>A (p.Gly782Arg)
n.352G>A
c.1043-1757G>A
c.979G>A (p.Gly327Arg)
n.273-1757G>A
n.910-1757G>A
c.2619-1757G>A (n.2619-1757G>A)
c.2386G>A (p.Gly796Arg)
n.3834-1757G>A
c.2655-1757G>A (n.2655-1757G>A)
c.2593G>A (p.Gly865Arg)
c.2725G>A (p.Gly909Arg)
c.2554G>A (p.Gly852Arg)
c.2422G>A (p.Gly808Arg)
c.2206G>A (p.Gly736Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540664G>CCA345696152TPOc.2689G>C (p.Gly897Arg)
c.2557G>C (p.Gly853Arg)
c.2170G>C (p.Gly724Arg)
c.2518G>C (p.Gly840Arg)
c.2344G>C (p.Gly782Arg)
n.352G>C
c.1043-1757G>C
c.979G>C (p.Gly327Arg)
n.273-1757G>C
n.910-1757G>C
c.2619-1757G>C (n.2619-1757G>C)
c.2386G>C (p.Gly796Arg)
n.3834-1757G>C
c.2655-1757G>C (n.2655-1757G>C)
c.2593G>C (p.Gly865Arg)
c.2725G>C (p.Gly909Arg)
c.2554G>C (p.Gly852Arg)
c.2422G>C (p.Gly808Arg)
c.2206G>C (p.Gly736Arg)
 gnomAD v4
2g.1540664G=CA1233609868TPOc.2689G= (p.Gly897=)
c.2557G= (p.Gly853=)
c.2170G= (p.Gly724=)
c.2518G= (p.Gly840=)
c.2344G= (p.Gly782=)
n.352G=
c.1043-1757G=
c.979G= (p.Gly327=)
n.273-1757G=
n.910-1757G=
c.2619-1757G= (n.2619-1757G=)
c.2386G= (p.Gly796=)
n.3834-1757G=
c.2655-1757G= (n.2655-1757G=)
c.2593G= (p.Gly865=)
c.2725G= (p.Gly909=)
c.2554G= (p.Gly852=)
c.2422G= (p.Gly808=)
c.2206G= (p.Gly736=)
2g.1540664G>TCA345696151TPOc.2689G>T (p.Gly897Ter)
c.2557G>T (p.Gly853Ter)
c.2170G>T (p.Gly724Ter)
c.2518G>T (p.Gly840Ter)
c.2344G>T (p.Gly782Ter)
n.352G>T
c.1043-1757G>T
c.979G>T (p.Gly327Ter)
n.273-1757G>T
n.910-1757G>T
c.2619-1757G>T (n.2619-1757G>T)
c.2386G>T (p.Gly796Ter)
n.3834-1757G>T
c.2655-1757G>T (n.2655-1757G>T)
c.2593G>T (p.Gly865Ter)
c.2725G>T (p.Gly909Ter)
c.2554G>T (p.Gly852Ter)
c.2422G>T (p.Gly808Ter)
c.2206G>T (p.Gly736Ter)
 COSMIC
2g.1540665G>ACA345696153TPOc.2690G>A (p.Gly897Glu)
c.2558G>A (p.Gly853Glu)
c.2171G>A (p.Gly724Glu)
c.2519G>A (p.Gly840Glu)
c.2345G>A (p.Gly782Glu)
n.353G>A
c.1043-1756G>A
c.980G>A (p.Gly327Glu)
n.273-1756G>A
n.910-1756G>A
c.2619-1756G>A (n.2619-1756G>A)
c.2387G>A (p.Gly796Glu)
n.3834-1756G>A
c.2655-1756G>A (n.2655-1756G>A)
c.2594G>A (p.Gly865Glu)
c.2726G>A (p.Gly909Glu)
c.2555G>A (p.Gly852Glu)
c.2423G>A (p.Gly808Glu)
c.2207G>A (p.Gly736Glu)
 gnomAD v4
2g.1540665G>CCA345696154TPOc.2690G>C (p.Gly897Ala)
c.2558G>C (p.Gly853Ala)
c.2171G>C (p.Gly724Ala)
c.2519G>C (p.Gly840Ala)
c.2345G>C (p.Gly782Ala)
n.353G>C
c.1043-1756G>C
c.980G>C (p.Gly327Ala)
n.273-1756G>C
n.910-1756G>C
c.2619-1756G>C (n.2619-1756G>C)
c.2387G>C (p.Gly796Ala)
n.3834-1756G>C
c.2655-1756G>C (n.2655-1756G>C)
c.2594G>C (p.Gly865Ala)
c.2726G>C (p.Gly909Ala)
c.2555G>C (p.Gly852Ala)
c.2423G>C (p.Gly808Ala)
c.2207G>C (p.Gly736Ala)
2g.1540665G>TCA345696155TPOc.2690G>T (p.Gly897Val)
c.2558G>T (p.Gly853Val)
c.2171G>T (p.Gly724Val)
c.2519G>T (p.Gly840Val)
c.2345G>T (p.Gly782Val)
n.353G>T
c.1043-1756G>T
c.980G>T (p.Gly327Val)
n.273-1756G>T
n.910-1756G>T
c.2619-1756G>T (n.2619-1756G>T)
c.2387G>T (p.Gly796Val)
n.3834-1756G>T
c.2655-1756G>T (n.2655-1756G>T)
c.2594G>T (p.Gly865Val)
c.2726G>T (p.Gly909Val)
c.2555G>T (p.Gly852Val)
c.2423G>T (p.Gly808Val)
c.2207G>T (p.Gly736Val)
2g.1540665_1540666delinsGACA1233609869TPOc.2690_2691delinsGA (p.Gly897=)
c.2558_2559delinsGA (p.Gly853=)
c.2171_2172delinsGA (p.Gly724=)
c.2519_2520delinsGA (p.Gly840=)
c.2345_2346delinsGA (p.Gly782=)
n.353_354delinsGA
c.1043-1756_1043-1755delinsGA
c.980_981delinsGA (p.Gly327=)
n.273-1756_273-1755delinsGA
n.910-1756_910-1755delinsGA
c.2619-1756_2619-1755delinsGA (n.2619-1756_2619-1755delinsGA)
c.2387_2388delinsGA (p.Gly796=)
n.3834-1756_3834-1755delinsGA
c.2655-1756_2655-1755delinsGA (n.2655-1756_2655-1755delinsGA)
c.2594_2595delinsGA (p.Gly865=)
c.2726_2727delinsGA (p.Gly909=)
c.2555_2556delinsGA (p.Gly852=)
c.2423_2424delinsGA (p.Gly808=)
c.2207_2208delinsGA (p.Gly736=)
2g.1540666A=CA1233609870TPOc.2691A= (p.Gly897=)
c.2559A= (p.Gly853=)
c.2172A= (p.Gly724=)
c.2520A= (p.Gly840=)
c.2346A= (p.Gly782=)
n.354A=
c.1043-1755A=
c.981A= (p.Gly327=)
n.273-1755A=
n.910-1755A=
c.2619-1755A= (n.2619-1755A=)
c.2388A= (p.Gly796=)
n.3834-1755A=
c.2655-1755A= (n.2655-1755A=)
c.2595A= (p.Gly865=)
c.2727A= (p.Gly909=)
c.2556A= (p.Gly852=)
c.2424A= (p.Gly808=)
c.2208A= (p.Gly736=)
2g.1540666A>CCA424757135TPOc.2691A>C (p.Gly897=)
c.2559A>C (p.Gly853=)
c.2172A>C (p.Gly724=)
c.2520A>C (p.Gly840=)
c.2346A>C (p.Gly782=)
n.354A>C
c.1043-1755A>C
c.981A>C (p.Gly327=)
n.273-1755A>C
n.910-1755A>C
c.2619-1755A>C (n.2619-1755A>C)
c.2388A>C (p.Gly796=)
n.3834-1755A>C
c.2655-1755A>C (n.2655-1755A>C)
c.2595A>C (p.Gly865=)
c.2727A>C (p.Gly909=)
c.2556A>C (p.Gly852=)
c.2424A>C (p.Gly808=)
c.2208A>C (p.Gly736=)
 ClinVar gnomAD v4
2g.1540666A>GCA424757137TPOc.2691A>G (p.Gly897=)
c.2559A>G (p.Gly853=)
c.2172A>G (p.Gly724=)
c.2520A>G (p.Gly840=)
c.2346A>G (p.Gly782=)
n.354A>G
c.1043-1755A>G
c.981A>G (p.Gly327=)
n.273-1755A>G
n.910-1755A>G
c.2619-1755A>G (n.2619-1755A>G)
c.2388A>G (p.Gly796=)
n.3834-1755A>G
c.2655-1755A>G (n.2655-1755A>G)
c.2595A>G (p.Gly865=)
c.2727A>G (p.Gly909=)
c.2556A>G (p.Gly852=)
c.2424A>G (p.Gly808=)
c.2208A>G (p.Gly736=)
 dbSNP gnomAD v2
2g.1540666A>TCA1512251TPOc.2691A>T (p.Gly897=)
c.2559A>T (p.Gly853=)
c.2172A>T (p.Gly724=)
c.2520A>T (p.Gly840=)
c.2346A>T (p.Gly782=)
n.354A>T
c.1043-1755A>T
c.981A>T (p.Gly327=)
n.273-1755A>T
n.910-1755A>T
c.2619-1755A>T (n.2619-1755A>T)
c.2388A>T (p.Gly796=)
n.3834-1755A>T
c.2655-1755A>T (n.2655-1755A>T)
c.2595A>T (p.Gly865=)
c.2727A>T (p.Gly909=)
c.2556A>T (p.Gly852=)
c.2424A>T (p.Gly808=)
c.2208A>T (p.Gly736=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540668delCA345696156TPOc.2693del (p.Lys898SerfsTer5)
c.2561del (p.Lys854SerfsTer5)
c.2174del (p.Lys725SerfsTer5)
c.2522del (p.Lys841SerfsTer5)
c.2348del (p.Lys783SerfsTer5)
n.356del
c.1043-1753del
c.983del (p.Lys328SerfsTer5)
n.273-1753del
n.910-1753del
c.2619-1753del (n.2619-1753del)
c.2390del (p.Lys797SerfsTer5)
n.3834-1753del
c.2655-1753del (n.2655-1753del)
c.2597del (p.Lys866SerfsTer5)
c.2729del (p.Lys910SerfsTer5)
c.2558del (p.Lys853SerfsTer5)
c.2426del (p.Lys809SerfsTer5)
c.2210del (p.Lys737SerfsTer5)
 dbSNP gnomAD v4
2g.1540667A>CCA345696157TPOc.2692A>C (p.Lys898Gln)
c.2560A>C (p.Lys854Gln)
c.2173A>C (p.Lys725Gln)
c.2521A>C (p.Lys841Gln)
c.2347A>C (p.Lys783Gln)
n.355A>C
c.1043-1754A>C
c.982A>C (p.Lys328Gln)
n.273-1754A>C
n.910-1754A>C
c.2619-1754A>C (n.2619-1754A>C)
c.2389A>C (p.Lys797Gln)
n.3834-1754A>C
c.2655-1754A>C (n.2655-1754A>C)
c.2596A>C (p.Lys866Gln)
c.2728A>C (p.Lys910Gln)
c.2557A>C (p.Lys853Gln)
c.2425A>C (p.Lys809Gln)
c.2209A>C (p.Lys737Gln)
2g.1540667A>GCA345696159TPOc.2692A>G (p.Lys898Glu)
c.2560A>G (p.Lys854Glu)
c.2173A>G (p.Lys725Glu)
c.2521A>G (p.Lys841Glu)
c.2347A>G (p.Lys783Glu)
n.355A>G
c.1043-1754A>G
c.982A>G (p.Lys328Glu)
n.273-1754A>G
n.910-1754A>G
c.2619-1754A>G (n.2619-1754A>G)
c.2389A>G (p.Lys797Glu)
n.3834-1754A>G
c.2655-1754A>G (n.2655-1754A>G)
c.2596A>G (p.Lys866Glu)
c.2728A>G (p.Lys910Glu)
c.2557A>G (p.Lys853Glu)
c.2425A>G (p.Lys809Glu)
c.2209A>G (p.Lys737Glu)
2g.1540667A>TCA345696158TPOc.2692A>T (p.Lys898Ter)
c.2560A>T (p.Lys854Ter)
c.2173A>T (p.Lys725Ter)
c.2521A>T (p.Lys841Ter)
c.2347A>T (p.Lys783Ter)
n.355A>T
c.1043-1754A>T
c.982A>T (p.Lys328Ter)
n.273-1754A>T
n.910-1754A>T
c.2619-1754A>T (n.2619-1754A>T)
c.2389A>T (p.Lys797Ter)
n.3834-1754A>T
c.2655-1754A>T (n.2655-1754A>T)
c.2596A>T (p.Lys866Ter)
c.2728A>T (p.Lys910Ter)
c.2557A>T (p.Lys853Ter)
c.2425A>T (p.Lys809Ter)
c.2209A>T (p.Lys737Ter)
2g.1540668A>CCA345696160TPOc.2693A>C (p.Lys898Thr)
c.2561A>C (p.Lys854Thr)
c.2174A>C (p.Lys725Thr)
c.2522A>C (p.Lys841Thr)
c.2348A>C (p.Lys783Thr)
n.356A>C
c.1043-1753A>C
c.983A>C (p.Lys328Thr)
n.273-1753A>C
n.910-1753A>C
c.2619-1753A>C (n.2619-1753A>C)
c.2390A>C (p.Lys797Thr)
n.3834-1753A>C
c.2655-1753A>C (n.2655-1753A>C)
c.2597A>C (p.Lys866Thr)
c.2729A>C (p.Lys910Thr)
c.2558A>C (p.Lys853Thr)
c.2426A>C (p.Lys809Thr)
c.2210A>C (p.Lys737Thr)
2g.1540668A>GCA345696161TPOc.2693A>G (p.Lys898Arg)
c.2561A>G (p.Lys854Arg)
c.2174A>G (p.Lys725Arg)
c.2522A>G (p.Lys841Arg)
c.2348A>G (p.Lys783Arg)
n.356A>G
c.1043-1753A>G
c.983A>G (p.Lys328Arg)
n.273-1753A>G
n.910-1753A>G
c.2619-1753A>G (n.2619-1753A>G)
c.2390A>G (p.Lys797Arg)
n.3834-1753A>G
c.2655-1753A>G (n.2655-1753A>G)
c.2597A>G (p.Lys866Arg)
c.2729A>G (p.Lys910Arg)
c.2558A>G (p.Lys853Arg)
c.2426A>G (p.Lys809Arg)
c.2210A>G (p.Lys737Arg)
2g.1540668A>TCA345696162TPOc.2693A>T (p.Lys898Met)
c.2561A>T (p.Lys854Met)
c.2174A>T (p.Lys725Met)
c.2522A>T (p.Lys841Met)
c.2348A>T (p.Lys783Met)
n.356A>T
c.1043-1753A>T
c.983A>T (p.Lys328Met)
n.273-1753A>T
n.910-1753A>T
c.2619-1753A>T (n.2619-1753A>T)
c.2390A>T (p.Lys797Met)
n.3834-1753A>T
c.2655-1753A>T (n.2655-1753A>T)
c.2597A>T (p.Lys866Met)
c.2729A>T (p.Lys910Met)
c.2558A>T (p.Lys853Met)
c.2426A>T (p.Lys809Met)
c.2210A>T (p.Lys737Met)
2g.1540669G>ACA424757140TPOc.2694G>A (p.Lys898=)
c.2562G>A (p.Lys854=)
c.2175G>A (p.Lys725=)
c.2523G>A (p.Lys841=)
c.2349G>A (p.Lys783=)
n.357G>A
c.1043-1752G>A
c.984G>A (p.Lys328=)
n.273-1752G>A
n.910-1752G>A
c.2619-1752G>A (n.2619-1752G>A)
c.2391G>A (p.Lys797=)
n.3834-1752G>A
c.2655-1752G>A (n.2655-1752G>A)
c.2598G>A (p.Lys866=)
c.2730G>A (p.Lys910=)
c.2559G>A (p.Lys853=)
c.2427G>A (p.Lys809=)
c.2211G>A (p.Lys737=)
 gnomAD v4
2g.1540669G>CCA345696163TPOc.2694G>C (p.Lys898Asn)
c.2562G>C (p.Lys854Asn)
c.2175G>C (p.Lys725Asn)
c.2523G>C (p.Lys841Asn)
c.2349G>C (p.Lys783Asn)
n.357G>C
c.1043-1752G>C
c.984G>C (p.Lys328Asn)
n.273-1752G>C
n.910-1752G>C
c.2619-1752G>C (n.2619-1752G>C)
c.2391G>C (p.Lys797Asn)
n.3834-1752G>C
c.2655-1752G>C (n.2655-1752G>C)
c.2598G>C (p.Lys866Asn)
c.2730G>C (p.Lys910Asn)
c.2559G>C (p.Lys853Asn)
c.2427G>C (p.Lys809Asn)
c.2211G>C (p.Lys737Asn)
2g.1540669G=CA1233609871TPOc.2694G= (p.Lys898=)
c.2562G= (p.Lys854=)
c.2175G= (p.Lys725=)
c.2523G= (p.Lys841=)
c.2349G= (p.Lys783=)
n.357G=
c.1043-1752G=
c.984G= (p.Lys328=)
n.273-1752G=
n.910-1752G=
c.2619-1752G= (n.2619-1752G=)
c.2391G= (p.Lys797=)
n.3834-1752G=
c.2655-1752G= (n.2655-1752G=)
c.2598G= (p.Lys866=)
c.2730G= (p.Lys910=)
c.2559G= (p.Lys853=)
c.2427G= (p.Lys809=)
c.2211G= (p.Lys737=)
2g.1540669G>TCA345696164TPOc.2694G>T (p.Lys898Asn)
c.2562G>T (p.Lys854Asn)
c.2175G>T (p.Lys725Asn)
c.2523G>T (p.Lys841Asn)
c.2349G>T (p.Lys783Asn)
n.357G>T
c.1043-1752G>T
c.984G>T (p.Lys328Asn)
n.273-1752G>T
n.910-1752G>T
c.2619-1752G>T (n.2619-1752G>T)
c.2391G>T (p.Lys797Asn)
n.3834-1752G>T
c.2655-1752G>T (n.2655-1752G>T)
c.2598G>T (p.Lys866Asn)
c.2730G>T (p.Lys910Asn)
c.2559G>T (p.Lys853Asn)
c.2427G>T (p.Lys809Asn)
c.2211G>T (p.Lys737Asn)
 dbSNP gnomAD v4
2g.1540672_1540695delCA2657648018TPOc.2697_2720del (p.His899_Pro906del)
c.2565_2588del (p.His855_Pro862del)
c.2178_2201del (p.His726_Pro733del)
c.2526_2549del (p.His842_Pro849del)
c.2352_2375del (p.His784_Pro791del)
n.360_383del
c.1043-1749_1043-1726del
c.987_1010del (p.His329_Pro336del)
n.273-1749_273-1726del
n.910-1749_910-1726del
c.2619-1749_2619-1726del (n.2619-1749_2619-1726del)
c.2394_2417del (p.His798_Pro805del)
n.3834-1749_3834-1726del
c.2655-1749_2655-1726del (n.2655-1749_2655-1726del)
c.2601_2624del (p.His867_Pro874del)
c.2733_2756del (p.His911_Pro918del)
c.2562_2585del (p.His854_Pro861del)
c.2430_2453del (p.His810_Pro817del)
c.2214_2237del (p.His738_Pro745del)
 gnomAD v4
2g.1540670C>ACA345696165TPOc.2695C>A (p.His899Asn)
c.2563C>A (p.His855Asn)
c.2176C>A (p.His726Asn)
c.2524C>A (p.His842Asn)
c.2350C>A (p.His784Asn)
n.358C>A
c.1043-1751C>A
c.985C>A (p.His329Asn)
n.273-1751C>A
n.910-1751C>A
c.2619-1751C>A (n.2619-1751C>A)
c.2392C>A (p.His798Asn)
n.3834-1751C>A
c.2655-1751C>A (n.2655-1751C>A)
c.2599C>A (p.His867Asn)
c.2731C>A (p.His911Asn)
c.2560C>A (p.His854Asn)
c.2428C>A (p.His810Asn)
c.2212C>A (p.His738Asn)
2g.1540670C=CA1233609872TPOc.2695C= (p.His899=)
c.2563C= (p.His855=)
c.2176C= (p.His726=)
c.2524C= (p.His842=)
c.2350C= (p.His784=)
n.358C=
c.1043-1751C=
c.985C= (p.His329=)
n.273-1751C=
n.910-1751C=
c.2619-1751C= (n.2619-1751C=)
c.2392C= (p.His798=)
n.3834-1751C=
c.2655-1751C= (n.2655-1751C=)
c.2599C= (p.His867=)
c.2731C= (p.His911=)
c.2560C= (p.His854=)
c.2428C= (p.His810=)
c.2212C= (p.His738=)
2g.1540670C>GCA345696166TPOc.2695C>G (p.His899Asp)
c.2563C>G (p.His855Asp)
c.2176C>G (p.His726Asp)
c.2524C>G (p.His842Asp)
c.2350C>G (p.His784Asp)
n.358C>G
c.1043-1751C>G
c.985C>G (p.His329Asp)
n.273-1751C>G
n.910-1751C>G
c.2619-1751C>G (n.2619-1751C>G)
c.2392C>G (p.His798Asp)
n.3834-1751C>G
c.2655-1751C>G (n.2655-1751C>G)
c.2599C>G (p.His867Asp)
c.2731C>G (p.His911Asp)
c.2560C>G (p.His854Asp)
c.2428C>G (p.His810Asp)
c.2212C>G (p.His738Asp)
2g.1540670C>TCA345696167TPOc.2695C>T (p.His899Tyr)
c.2563C>T (p.His855Tyr)
c.2176C>T (p.His726Tyr)
c.2524C>T (p.His842Tyr)
c.2350C>T (p.His784Tyr)
n.358C>T
c.1043-1751C>T
c.985C>T (p.His329Tyr)
n.273-1751C>T
n.910-1751C>T
c.2619-1751C>T (n.2619-1751C>T)
c.2392C>T (p.His798Tyr)
n.3834-1751C>T
c.2655-1751C>T (n.2655-1751C>T)
c.2599C>T (p.His867Tyr)
c.2731C>T (p.His911Tyr)
c.2560C>T (p.His854Tyr)
c.2428C>T (p.His810Tyr)
c.2212C>T (p.His738Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.1540671A=CA1233609873TPOc.2696A= (p.His899=)
c.2564A= (p.His855=)
c.2177A= (p.His726=)
c.2525A= (p.His842=)
c.2351A= (p.His784=)
n.359A=
c.1043-1750A=
c.986A= (p.His329=)
n.273-1750A=
n.910-1750A=
c.2619-1750A= (n.2619-1750A=)
c.2393A= (p.His798=)
n.3834-1750A=
c.2655-1750A= (n.2655-1750A=)
c.2600A= (p.His867=)
c.2732A= (p.His911=)
c.2561A= (p.His854=)
c.2429A= (p.His810=)
c.2213A= (p.His738=)
2g.1540671A>CCA345696168TPOc.2696A>C (p.His899Pro)
c.2564A>C (p.His855Pro)
c.2177A>C (p.His726Pro)
c.2525A>C (p.His842Pro)
c.2351A>C (p.His784Pro)
n.359A>C
c.1043-1750A>C
c.986A>C (p.His329Pro)
n.273-1750A>C
n.910-1750A>C
c.2619-1750A>C (n.2619-1750A>C)
c.2393A>C (p.His798Pro)
n.3834-1750A>C
c.2655-1750A>C (n.2655-1750A>C)
c.2600A>C (p.His867Pro)
c.2732A>C (p.His911Pro)
c.2561A>C (p.His854Pro)
c.2429A>C (p.His810Pro)
c.2213A>C (p.His738Pro)
2g.1540671A>GCA345696169TPOc.2696A>G (p.His899Arg)
c.2564A>G (p.His855Arg)
c.2177A>G (p.His726Arg)
c.2525A>G (p.His842Arg)
c.2351A>G (p.His784Arg)
n.359A>G
c.1043-1750A>G
c.986A>G (p.His329Arg)
n.273-1750A>G
n.910-1750A>G
c.2619-1750A>G (n.2619-1750A>G)
c.2393A>G (p.His798Arg)
n.3834-1750A>G
c.2655-1750A>G (n.2655-1750A>G)
c.2600A>G (p.His867Arg)
c.2732A>G (p.His911Arg)
c.2561A>G (p.His854Arg)
c.2429A>G (p.His810Arg)
c.2213A>G (p.His738Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.1540671A>TCA345696170TPOc.2696A>T (p.His899Leu)
c.2564A>T (p.His855Leu)
c.2177A>T (p.His726Leu)
c.2525A>T (p.His842Leu)
c.2351A>T (p.His784Leu)
n.359A>T
c.1043-1750A>T
c.986A>T (p.His329Leu)
n.273-1750A>T
n.910-1750A>T
c.2619-1750A>T (n.2619-1750A>T)
c.2393A>T (p.His798Leu)
n.3834-1750A>T
c.2655-1750A>T (n.2655-1750A>T)
c.2600A>T (p.His867Leu)
c.2732A>T (p.His911Leu)
c.2561A>T (p.His854Leu)
c.2429A>T (p.His810Leu)
c.2213A>T (p.His738Leu)
2g.1540672C>ACA345696172TPOc.2697C>A (p.His899Gln)
c.2565C>A (p.His855Gln)
c.2178C>A (p.His726Gln)
c.2526C>A (p.His842Gln)
c.2352C>A (p.His784Gln)
n.360C>A
c.1043-1749C>A
c.987C>A (p.His329Gln)
n.273-1749C>A
n.910-1749C>A
c.2619-1749C>A (n.2619-1749C>A)
c.2394C>A (p.His798Gln)
n.3834-1749C>A
c.2655-1749C>A (n.2655-1749C>A)
c.2601C>A (p.His867Gln)
c.2733C>A (p.His911Gln)
c.2562C>A (p.His854Gln)
c.2430C>A (p.His810Gln)
c.2214C>A (p.His738Gln)
2g.1540672C>GCA345696171TPOc.2697C>G (p.His899Gln)
c.2565C>G (p.His855Gln)
c.2178C>G (p.His726Gln)
c.2526C>G (p.His842Gln)
c.2352C>G (p.His784Gln)
n.360C>G
c.1043-1749C>G
c.987C>G (p.His329Gln)
n.273-1749C>G
n.910-1749C>G
c.2619-1749C>G (n.2619-1749C>G)
c.2394C>G (p.His798Gln)
n.3834-1749C>G
c.2655-1749C>G (n.2655-1749C>G)
c.2601C>G (p.His867Gln)
c.2733C>G (p.His911Gln)
c.2562C>G (p.His854Gln)
c.2430C>G (p.His810Gln)
c.2214C>G (p.His738Gln)
 gnomAD v4
2g.1540672C>TCA424757146TPOc.2697C>T (p.His899=)
c.2565C>T (p.His855=)
c.2178C>T (p.His726=)
c.2526C>T (p.His842=)
c.2352C>T (p.His784=)
n.360C>T
c.1043-1749C>T
c.987C>T (p.His329=)
n.273-1749C>T
n.910-1749C>T
c.2619-1749C>T (n.2619-1749C>T)
c.2394C>T (p.His798=)
n.3834-1749C>T
c.2655-1749C>T (n.2655-1749C>T)
c.2601C>T (p.His867=)
c.2733C>T (p.His911=)
c.2562C>T (p.His854=)
c.2430C>T (p.His810=)
c.2214C>T (p.His738=)
2g.1540673C>ACA345696173TPOc.2698C>A (p.Gln900Lys)
c.2566C>A (p.Gln856Lys)
c.2179C>A (p.Gln727Lys)
c.2527C>A (p.Gln843Lys)
c.2353C>A (p.Gln785Lys)
n.361C>A
c.1043-1748C>A
c.988C>A (p.Gln330Lys)
n.273-1748C>A
n.910-1748C>A
c.2619-1748C>A (n.2619-1748C>A)
c.2395C>A (p.Gln799Lys)
n.3834-1748C>A
c.2655-1748C>A (n.2655-1748C>A)
c.2602C>A (p.Gln868Lys)
c.2734C>A (p.Gln912Lys)
c.2563C>A (p.Gln855Lys)
c.2431C>A (p.Gln811Lys)
c.2215C>A (p.Gln739Lys)
 gnomAD v4
2g.1540673C=CA1233609874TPOc.2698C= (p.Gln900=)
c.2566C= (p.Gln856=)
c.2179C= (p.Gln727=)
c.2527C= (p.Gln843=)
c.2353C= (p.Gln785=)
n.361C=
c.1043-1748C=
c.988C= (p.Gln330=)
n.273-1748C=
n.910-1748C=
c.2619-1748C= (n.2619-1748C=)
c.2395C= (p.Gln799=)
n.3834-1748C=
c.2655-1748C= (n.2655-1748C=)
c.2602C= (p.Gln868=)
c.2734C= (p.Gln912=)
c.2563C= (p.Gln855=)
c.2431C= (p.Gln811=)
c.2215C= (p.Gln739=)
2g.1540673C>GCA1512252TPOc.2698C>G (p.Gln900Glu)
c.2566C>G (p.Gln856Glu)
c.2179C>G (p.Gln727Glu)
c.2527C>G (p.Gln843Glu)
c.2353C>G (p.Gln785Glu)
n.361C>G
c.1043-1748C>G
c.988C>G (p.Gln330Glu)
n.273-1748C>G
n.910-1748C>G
c.2619-1748C>G (n.2619-1748C>G)
c.2395C>G (p.Gln799Glu)
n.3834-1748C>G
c.2655-1748C>G (n.2655-1748C>G)
c.2602C>G (p.Gln868Glu)
c.2734C>G (p.Gln912Glu)
c.2563C>G (p.Gln855Glu)
c.2431C>G (p.Gln811Glu)
c.2215C>G (p.Gln739Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540673C>TCA345696174TPOc.2698C>T (p.Gln900Ter)
c.2566C>T (p.Gln856Ter)
c.2179C>T (p.Gln727Ter)
c.2527C>T (p.Gln843Ter)
c.2353C>T (p.Gln785Ter)
n.361C>T
c.1043-1748C>T
c.988C>T (p.Gln330Ter)
n.273-1748C>T
n.910-1748C>T
c.2619-1748C>T (n.2619-1748C>T)
c.2395C>T (p.Gln799Ter)
n.3834-1748C>T
c.2655-1748C>T (n.2655-1748C>T)
c.2602C>T (p.Gln868Ter)
c.2734C>T (p.Gln912Ter)
c.2563C>T (p.Gln855Ter)
c.2431C>T (p.Gln811Ter)
c.2215C>T (p.Gln739Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.1540674A>CCA345696175TPOc.2699A>C (p.Gln900Pro)
c.2567A>C (p.Gln856Pro)
c.2180A>C (p.Gln727Pro)
c.2528A>C (p.Gln843Pro)
c.2354A>C (p.Gln785Pro)
n.362A>C
c.1043-1747A>C
c.989A>C (p.Gln330Pro)
n.273-1747A>C
n.910-1747A>C
c.2619-1747A>C (n.2619-1747A>C)
c.2396A>C (p.Gln799Pro)
n.3834-1747A>C
c.2655-1747A>C (n.2655-1747A>C)
c.2603A>C (p.Gln868Pro)
c.2735A>C (p.Gln912Pro)
c.2564A>C (p.Gln855Pro)
c.2432A>C (p.Gln811Pro)
c.2216A>C (p.Gln739Pro)
2g.1540674A>GCA345696177TPOc.2699A>G (p.Gln900Arg)
c.2567A>G (p.Gln856Arg)
c.2180A>G (p.Gln727Arg)
c.2528A>G (p.Gln843Arg)
c.2354A>G (p.Gln785Arg)
n.362A>G
c.1043-1747A>G
c.989A>G (p.Gln330Arg)
n.273-1747A>G
n.910-1747A>G
c.2619-1747A>G (n.2619-1747A>G)
c.2396A>G (p.Gln799Arg)
n.3834-1747A>G
c.2655-1747A>G (n.2655-1747A>G)
c.2603A>G (p.Gln868Arg)
c.2735A>G (p.Gln912Arg)
c.2564A>G (p.Gln855Arg)
c.2432A>G (p.Gln811Arg)
c.2216A>G (p.Gln739Arg)
2g.1540674A>TCA345696176TPOc.2699A>T (p.Gln900Leu)
c.2567A>T (p.Gln856Leu)
c.2180A>T (p.Gln727Leu)
c.2528A>T (p.Gln843Leu)
c.2354A>T (p.Gln785Leu)
n.362A>T
c.1043-1747A>T
c.989A>T (p.Gln330Leu)
n.273-1747A>T
n.910-1747A>T
c.2619-1747A>T (n.2619-1747A>T)
c.2396A>T (p.Gln799Leu)
n.3834-1747A>T
c.2655-1747A>T (n.2655-1747A>T)
c.2603A>T (p.Gln868Leu)
c.2735A>T (p.Gln912Leu)
c.2564A>T (p.Gln855Leu)
c.2432A>T (p.Gln811Leu)
c.2216A>T (p.Gln739Leu)
2g.1540675G>ACA424757155TPOc.2700G>A (p.Gln900=)
c.2568G>A (p.Gln856=)
c.2181G>A (p.Gln727=)
c.2529G>A (p.Gln843=)
c.2355G>A (p.Gln785=)
n.363G>A
c.1043-1746G>A
c.990G>A (p.Gln330=)
n.273-1746G>A
n.910-1746G>A
c.2619-1746G>A (n.2619-1746G>A)
c.2397G>A (p.Gln799=)
n.3834-1746G>A
c.2655-1746G>A (n.2655-1746G>A)
c.2604G>A (p.Gln868=)
c.2736G>A (p.Gln912=)
c.2565G>A (p.Gln855=)
c.2433G>A (p.Gln811=)
c.2217G>A (p.Gln739=)
2g.1540675G>CCA345696178TPOc.2700G>C (p.Gln900His)
c.2568G>C (p.Gln856His)
c.2181G>C (p.Gln727His)
c.2529G>C (p.Gln843His)
c.2355G>C (p.Gln785His)
n.363G>C
c.1043-1746G>C
c.990G>C (p.Gln330His)
n.273-1746G>C
n.910-1746G>C
c.2619-1746G>C (n.2619-1746G>C)
c.2397G>C (p.Gln799His)
n.3834-1746G>C
c.2655-1746G>C (n.2655-1746G>C)
c.2604G>C (p.Gln868His)
c.2736G>C (p.Gln912His)
c.2565G>C (p.Gln855His)
c.2433G>C (p.Gln811His)
c.2217G>C (p.Gln739His)
 dbSNP gnomAD v2 gnomAD v4
2g.1540675G=CA1233609875TPOc.2700G= (p.Gln900=)
c.2568G= (p.Gln856=)
c.2181G= (p.Gln727=)
c.2529G= (p.Gln843=)
c.2355G= (p.Gln785=)
n.363G=
c.1043-1746G=
c.990G= (p.Gln330=)
n.273-1746G=
n.910-1746G=
c.2619-1746G= (n.2619-1746G=)
c.2397G= (p.Gln799=)
n.3834-1746G=
c.2655-1746G= (n.2655-1746G=)
c.2604G= (p.Gln868=)
c.2736G= (p.Gln912=)
c.2565G= (p.Gln855=)
c.2433G= (p.Gln811=)
c.2217G= (p.Gln739=)
2g.1540675G>TCA345696179TPOc.2700G>T (p.Gln900His)
c.2568G>T (p.Gln856His)
c.2181G>T (p.Gln727His)
c.2529G>T (p.Gln843His)
c.2355G>T (p.Gln785His)
n.363G>T
c.1043-1746G>T
c.990G>T (p.Gln330His)
n.273-1746G>T
n.910-1746G>T
c.2619-1746G>T (n.2619-1746G>T)
c.2397G>T (p.Gln799His)
n.3834-1746G>T
c.2655-1746G>T (n.2655-1746G>T)
c.2604G>T (p.Gln868His)
c.2736G>T (p.Gln912His)
c.2565G>T (p.Gln855His)
c.2433G>T (p.Gln811His)
c.2217G>T (p.Gln739His)
2g.1540676G>ACA345696180TPOc.2701G>A (p.Ala901Thr)
c.2569G>A (p.Ala857Thr)
c.2182G>A (p.Ala728Thr)
c.2530G>A (p.Ala844Thr)
c.2356G>A (p.Ala786Thr)
n.364G>A
c.1043-1745G>A
c.991G>A (p.Ala331Thr)
n.273-1745G>A
n.910-1745G>A
c.2619-1745G>A (n.2619-1745G>A)
c.2398G>A (p.Ala800Thr)
n.3834-1745G>A
c.2655-1745G>A (n.2655-1745G>A)
c.2605G>A (p.Ala869Thr)
c.2737G>A (p.Ala913Thr)
c.2566G>A (p.Ala856Thr)
c.2434G>A (p.Ala812Thr)
c.2218G>A (p.Ala740Thr)
2g.1540676G>CCA345696181TPOc.2701G>C (p.Ala901Pro)
c.2569G>C (p.Ala857Pro)
c.2182G>C (p.Ala728Pro)
c.2530G>C (p.Ala844Pro)
c.2356G>C (p.Ala786Pro)
n.364G>C
c.1043-1745G>C
c.991G>C (p.Ala331Pro)
n.273-1745G>C
n.910-1745G>C
c.2619-1745G>C (n.2619-1745G>C)
c.2398G>C (p.Ala800Pro)
n.3834-1745G>C
c.2655-1745G>C (n.2655-1745G>C)
c.2605G>C (p.Ala869Pro)
c.2737G>C (p.Ala913Pro)
c.2566G>C (p.Ala856Pro)
c.2434G>C (p.Ala812Pro)
c.2218G>C (p.Ala740Pro)
2g.1540676G>TCA345696182TPOc.2701G>T (p.Ala901Ser)
c.2569G>T (p.Ala857Ser)
c.2182G>T (p.Ala728Ser)
c.2530G>T (p.Ala844Ser)
c.2356G>T (p.Ala786Ser)
n.364G>T
c.1043-1745G>T
c.991G>T (p.Ala331Ser)
n.273-1745G>T
n.910-1745G>T
c.2619-1745G>T (n.2619-1745G>T)
c.2398G>T (p.Ala800Ser)
n.3834-1745G>T
c.2655-1745G>T (n.2655-1745G>T)
c.2605G>T (p.Ala869Ser)
c.2737G>T (p.Ala913Ser)
c.2566G>T (p.Ala856Ser)
c.2434G>T (p.Ala812Ser)
c.2218G>T (p.Ala740Ser)
2g.1540677C>ACA345696183TPOc.2702C>A (p.Ala901Asp)
c.2570C>A (p.Ala857Asp)
c.2183C>A (p.Ala728Asp)
c.2531C>A (p.Ala844Asp)
c.2357C>A (p.Ala786Asp)
n.365C>A
c.1043-1744C>A
c.992C>A (p.Ala331Asp)
n.273-1744C>A
n.910-1744C>A
c.2619-1744C>A (n.2619-1744C>A)
c.2399C>A (p.Ala800Asp)
n.3834-1744C>A
c.2655-1744C>A (n.2655-1744C>A)
c.2606C>A (p.Ala869Asp)
c.2738C>A (p.Ala913Asp)
c.2567C>A (p.Ala856Asp)
c.2435C>A (p.Ala812Asp)
c.2219C>A (p.Ala740Asp)
2g.1540677C=CA1233609876TPOc.2702C= (p.Ala901=)
c.2570C= (p.Ala857=)
c.2183C= (p.Ala728=)
c.2531C= (p.Ala844=)
c.2357C= (p.Ala786=)
n.365C=
c.1043-1744C=
c.992C= (p.Ala331=)
n.273-1744C=
n.910-1744C=
c.2619-1744C= (n.2619-1744C=)
c.2399C= (p.Ala800=)
n.3834-1744C=
c.2655-1744C= (n.2655-1744C=)
c.2606C= (p.Ala869=)
c.2738C= (p.Ala913=)
c.2567C= (p.Ala856=)
c.2435C= (p.Ala812=)
c.2219C= (p.Ala740=)
2g.1540677C>GCA10612352TPOc.2702C>G (p.Ala901Gly)
c.2570C>G (p.Ala857Gly)
c.2183C>G (p.Ala728Gly)
c.2531C>G (p.Ala844Gly)
c.2357C>G (p.Ala786Gly)
n.365C>G
c.1043-1744C>G
c.992C>G (p.Ala331Gly)
n.273-1744C>G
n.910-1744C>G
c.2619-1744C>G (n.2619-1744C>G)
c.2399C>G (p.Ala800Gly)
n.3834-1744C>G
c.2655-1744C>G (n.2655-1744C>G)
c.2606C>G (p.Ala869Gly)
c.2738C>G (p.Ala913Gly)
c.2567C>G (p.Ala856Gly)
c.2435C>G (p.Ala812Gly)
c.2219C>G (p.Ala740Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1540677C>TCA41406329TPOc.2702C>T (p.Ala901Val)
c.2570C>T (p.Ala857Val)
c.2183C>T (p.Ala728Val)
c.2531C>T (p.Ala844Val)
c.2357C>T (p.Ala786Val)
n.365C>T
c.1043-1744C>T
c.992C>T (p.Ala331Val)
n.273-1744C>T
n.910-1744C>T
c.2619-1744C>T (n.2619-1744C>T)
c.2399C>T (p.Ala800Val)
n.3834-1744C>T
c.2655-1744C>T (n.2655-1744C>T)
c.2606C>T (p.Ala869Val)
c.2738C>T (p.Ala913Val)
c.2567C>T (p.Ala856Val)
c.2435C>T (p.Ala812Val)
c.2219C>T (p.Ala740Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1540678C>ACA424757160TPOc.2703C>A (p.Ala901=)
c.2571C>A (p.Ala857=)
c.2184C>A (p.Ala728=)
c.2532C>A (p.Ala844=)
c.2358C>A (p.Ala786=)
n.366C>A
c.1043-1743C>A
c.993C>A (p.Ala331=)
n.273-1743C>A
n.910-1743C>A
c.2619-1743C>A (n.2619-1743C>A)
c.2400C>A (p.Ala800=)
n.3834-1743C>A
c.2655-1743C>A (n.2655-1743C>A)
c.2607C>A (p.Ala869=)
c.2739C>A (p.Ala913=)
c.2568C>A (p.Ala856=)
c.2436C>A (p.Ala812=)
c.2220C>A (p.Ala740=)
 dbSNP gnomAD v3 gnomAD v4
2g.1540678C=CA1233609877TPOc.2703C= (p.Ala901=)
c.2571C= (p.Ala857=)
c.2184C= (p.Ala728=)
c.2532C= (p.Ala844=)
c.2358C= (p.Ala786=)
n.366C=
c.1043-1743C=
c.993C= (p.Ala331=)
n.273-1743C=
n.910-1743C=
c.2619-1743C= (n.2619-1743C=)
c.2400C= (p.Ala800=)
n.3834-1743C=
c.2655-1743C= (n.2655-1743C=)
c.2607C= (p.Ala869=)
c.2739C= (p.Ala913=)
c.2568C= (p.Ala856=)
c.2436C= (p.Ala812=)
c.2220C= (p.Ala740=)
2g.1540678C>GCA424757161TPOc.2703C>G (p.Ala901=)
c.2571C>G (p.Ala857=)
c.2184C>G (p.Ala728=)
c.2532C>G (p.Ala844=)
c.2358C>G (p.Ala786=)
n.366C>G
c.1043-1743C>G
c.993C>G (p.Ala331=)
n.273-1743C>G
n.910-1743C>G
c.2619-1743C>G (n.2619-1743C>G)
c.2400C>G (p.Ala800=)
n.3834-1743C>G
c.2655-1743C>G (n.2655-1743C>G)
c.2607C>G (p.Ala869=)
c.2739C>G (p.Ala913=)
c.2568C>G (p.Ala856=)
c.2436C>G (p.Ala812=)
c.2220C>G (p.Ala740=)
2g.1540678C>TCA1512253TPOc.2703C>T (p.Ala901=)
c.2571C>T (p.Ala857=)
c.2184C>T (p.Ala728=)
c.2532C>T (p.Ala844=)
c.2358C>T (p.Ala786=)
n.366C>T
c.1043-1743C>T
c.993C>T (p.Ala331=)
n.273-1743C>T
n.910-1743C>T
c.2619-1743C>T (n.2619-1743C>T)
c.2400C>T (p.Ala800=)
n.3834-1743C>T
c.2655-1743C>T (n.2655-1743C>T)
c.2607C>T (p.Ala869=)
c.2739C>T (p.Ala913=)
c.2568C>T (p.Ala856=)
c.2436C>T (p.Ala812=)
c.2220C>T (p.Ala740=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540679G>ACA1512254TPOc.2704G>A (p.Val902Ile)
c.2572G>A (p.Val858Ile)
c.2185G>A (p.Val729Ile)
c.2533G>A (p.Val845Ile)
c.2359G>A (p.Val787Ile)
n.367G>A
c.1043-1742G>A
c.994G>A (p.Val332Ile)
n.273-1742G>A
n.910-1742G>A
c.2619-1742G>A (n.2619-1742G>A)
c.2401G>A (p.Val801Ile)
n.3834-1742G>A
c.2655-1742G>A (n.2655-1742G>A)
c.2608G>A (p.Val870Ile)
c.2740G>A (p.Val914Ile)
c.2569G>A (p.Val857Ile)
c.2437G>A (p.Val813Ile)
c.2221G>A (p.Val741Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1540679G>CCA41406355TPOc.2704G>C (p.Val902Leu)
c.2572G>C (p.Val858Leu)
c.2185G>C (p.Val729Leu)
c.2533G>C (p.Val845Leu)
c.2359G>C (p.Val787Leu)
n.367G>C
c.1043-1742G>C
c.994G>C (p.Val332Leu)
n.273-1742G>C
n.910-1742G>C
c.2619-1742G>C (n.2619-1742G>C)
c.2401G>C (p.Val801Leu)
n.3834-1742G>C
c.2655-1742G>C (n.2655-1742G>C)
c.2608G>C (p.Val870Leu)
c.2740G>C (p.Val914Leu)
c.2569G>C (p.Val857Leu)
c.2437G>C (p.Val813Leu)
c.2221G>C (p.Val741Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.1540679G=CA1233609878TPOc.2704G= (p.Val902=)
c.2572G= (p.Val858=)
c.2185G= (p.Val729=)
c.2533G= (p.Val845=)
c.2359G= (p.Val787=)
n.367G=
c.1043-1742G=
c.994G= (p.Val332=)
n.273-1742G=
n.910-1742G=
c.2619-1742G= (n.2619-1742G=)
c.2401G= (p.Val801=)
n.3834-1742G=
c.2655-1742G= (n.2655-1742G=)
c.2608G= (p.Val870=)
c.2740G= (p.Val914=)
c.2569G= (p.Val857=)
c.2437G= (p.Val813=)
c.2221G= (p.Val741=)
2g.1540679G>TCA1512255TPOc.2704G>T (p.Val902Leu)
c.2572G>T (p.Val858Leu)
c.2185G>T (p.Val729Leu)
c.2533G>T (p.Val845Leu)
c.2359G>T (p.Val787Leu)
n.367G>T
c.1043-1742G>T
c.994G>T (p.Val332Leu)
n.273-1742G>T
n.910-1742G>T
c.2619-1742G>T (n.2619-1742G>T)
c.2401G>T (p.Val801Leu)
n.3834-1742G>T
c.2655-1742G>T (n.2655-1742G>T)
c.2608G>T (p.Val870Leu)
c.2740G>T (p.Val914Leu)
c.2569G>T (p.Val857Leu)
c.2437G>T (p.Val813Leu)
c.2221G>T (p.Val741Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1540680T>ACA345696184TPOc.2705T>A (p.Val902Glu)
c.2573T>A (p.Val858Glu)
c.2186T>A (p.Val729Glu)
c.2534T>A (p.Val845Glu)
c.2360T>A (p.Val787Glu)
n.368T>A
c.1043-1741T>A
c.995T>A (p.Val332Glu)
n.273-1741T>A
n.910-1741T>A
c.2619-1741T>A (n.2619-1741T>A)
c.2402T>A (p.Val801Glu)
n.3834-1741T>A
c.2655-1741T>A (n.2655-1741T>A)
c.2609T>A (p.Val870Glu)
c.2741T>A (p.Val914Glu)
c.2570T>A (p.Val857Glu)
c.2438T>A (p.Val813Glu)
c.2222T>A (p.Val741Glu)
2g.1540680T>CCA345696186TPOc.2705T>C (p.Val902Ala)
c.2573T>C (p.Val858Ala)
c.2186T>C (p.Val729Ala)
c.2534T>C (p.Val845Ala)
c.2360T>C (p.Val787Ala)
n.368T>C
c.1043-1741T>C
c.995T>C (p.Val332Ala)
n.273-1741T>C
n.910-1741T>C
c.2619-1741T>C (n.2619-1741T>C)
c.2402T>C (p.Val801Ala)
n.3834-1741T>C
c.2655-1741T>C (n.2655-1741T>C)
c.2609T>C (p.Val870Ala)
c.2741T>C (p.Val914Ala)
c.2570T>C (p.Val857Ala)
c.2438T>C (p.Val813Ala)
c.2222T>C (p.Val741Ala)
2g.1540680T>GCA345696185TPOc.2705T>G (p.Val902Gly)
c.2573T>G (p.Val858Gly)
c.2186T>G (p.Val729Gly)
c.2534T>G (p.Val845Gly)
c.2360T>G (p.Val787Gly)
n.368T>G
c.1043-1741T>G
c.995T>G (p.Val332Gly)
n.273-1741T>G
n.910-1741T>G
c.2619-1741T>G (n.2619-1741T>G)
c.2402T>G (p.Val801Gly)
n.3834-1741T>G
c.2655-1741T>G (n.2655-1741T>G)
c.2609T>G (p.Val870Gly)
c.2741T>G (p.Val914Gly)
c.2570T>G (p.Val857Gly)
c.2438T>G (p.Val813Gly)
c.2222T>G (p.Val741Gly)
2g.1540681A>CCA424757165TPOc.2706A>C (p.Val902=)
c.2574A>C (p.Val858=)
c.2187A>C (p.Val729=)
c.2535A>C (p.Val845=)
c.2361A>C (p.Val787=)
n.369A>C
c.1043-1740A>C
c.996A>C (p.Val332=)
n.273-1740A>C
n.910-1740A>C
c.2619-1740A>C (n.2619-1740A>C)
c.2403A>C (p.Val801=)
n.3834-1740A>C
c.2655-1740A>C (n.2655-1740A>C)
c.2610A>C (p.Val870=)
c.2742A>C (p.Val914=)
c.2571A>C (p.Val857=)
c.2439A>C (p.Val813=)
c.2223A>C (p.Val741=)
 gnomAD v4
2g.1540681A>GCA424757166TPOc.2706A>G (p.Val902=)
c.2574A>G (p.Val858=)
c.2187A>G (p.Val729=)
c.2535A>G (p.Val845=)
c.2361A>G (p.Val787=)
n.369A>G
c.1043-1740A>G
c.996A>G (p.Val332=)
n.273-1740A>G
n.910-1740A>G
c.2619-1740A>G (n.2619-1740A>G)
c.2403A>G (p.Val801=)
n.3834-1740A>G
c.2655-1740A>G (n.2655-1740A>G)
c.2610A>G (p.Val870=)
c.2742A>G (p.Val914=)
c.2571A>G (p.Val857=)
c.2439A>G (p.Val813=)
c.2223A>G (p.Val741=)
2g.1540681A>TCA424757167TPOc.2706A>T (p.Val902=)
c.2574A>T (p.Val858=)
c.2187A>T (p.Val729=)
c.2535A>T (p.Val845=)
c.2361A>T (p.Val787=)
n.369A>T
c.1043-1740A>T
c.996A>T (p.Val332=)
n.273-1740A>T
n.910-1740A>T
c.2619-1740A>T (n.2619-1740A>T)
c.2403A>T (p.Val801=)
n.3834-1740A>T
c.2655-1740A>T (n.2655-1740A>T)
c.2610A>T (p.Val870=)
c.2742A>T (p.Val914=)
c.2571A>T (p.Val857=)
c.2439A>T (p.Val813=)
c.2223A>T (p.Val741=)
2g.1540682G>ACA345696187TPOc.2707G>A (p.Gly903Arg)
c.2575G>A (p.Gly859Arg)
c.2188G>A (p.Gly730Arg)
c.2536G>A (p.Gly846Arg)
c.2362G>A (p.Gly788Arg)
n.370G>A
c.1043-1739G>A
c.997G>A (p.Gly333Arg)
n.273-1739G>A
n.910-1739G>A
c.2619-1739G>A (n.2619-1739G>A)
c.2404G>A (p.Gly802Arg)
n.3834-1739G>A
c.2655-1739G>A (n.2655-1739G>A)
c.2611G>A (p.Gly871Arg)
c.2743G>A (p.Gly915Arg)
c.2572G>A (p.Gly858Arg)
c.2440G>A (p.Gly814Arg)
c.2224G>A (p.Gly742Arg)
 gnomAD v4
2g.1540682G>CCA345696188TPOc.2707G>C (p.Gly903Arg)
c.2575G>C (p.Gly859Arg)
c.2188G>C (p.Gly730Arg)
c.2536G>C (p.Gly846Arg)
c.2362G>C (p.Gly788Arg)
n.370G>C
c.1043-1739G>C
c.997G>C (p.Gly333Arg)
n.273-1739G>C
n.910-1739G>C
c.2619-1739G>C (n.2619-1739G>C)
c.2404G>C (p.Gly802Arg)
n.3834-1739G>C
c.2655-1739G>C (n.2655-1739G>C)
c.2611G>C (p.Gly871Arg)
c.2743G>C (p.Gly915Arg)
c.2572G>C (p.Gly858Arg)
c.2440G>C (p.Gly814Arg)
c.2224G>C (p.Gly742Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.1540682G=CA1233609879TPOc.2707G= (p.Gly903=)
c.2575G= (p.Gly859=)
c.2188G= (p.Gly730=)
c.2536G= (p.Gly846=)
c.2362G= (p.Gly788=)
n.370G=
c.1043-1739G=
c.997G= (p.Gly333=)
n.273-1739G=
n.910-1739G=
c.2619-1739G= (n.2619-1739G=)
c.2404G= (p.Gly802=)
n.3834-1739G=
c.2655-1739G= (n.2655-1739G=)
c.2611G= (p.Gly871=)
c.2743G= (p.Gly915=)
c.2572G= (p.Gly858=)
c.2440G= (p.Gly814=)
c.2224G= (p.Gly742=)
2g.1540682G>TCA345696189TPOc.2707G>T (p.Gly903Trp)
c.2575G>T (p.Gly859Trp)
c.2188G>T (p.Gly730Trp)
c.2536G>T (p.Gly846Trp)
c.2362G>T (p.Gly788Trp)
n.370G>T
c.1043-1739G>T
c.997G>T (p.Gly333Trp)
n.273-1739G>T
n.910-1739G>T
c.2619-1739G>T (n.2619-1739G>T)
c.2404G>T (p.Gly802Trp)
n.3834-1739G>T
c.2655-1739G>T (n.2655-1739G>T)
c.2611G>T (p.Gly871Trp)
c.2743G>T (p.Gly915Trp)
c.2572G>T (p.Gly858Trp)
c.2440G>T (p.Gly814Trp)
c.2224G>T (p.Gly742Trp)
2g.1540683G>ACA1512256TPOc.2708G>A (p.Gly903Glu)
c.2576G>A (p.Gly859Glu)
c.2189G>A (p.Gly730Glu)
c.2537G>A (p.Gly846Glu)
c.2363G>A (p.Gly788Glu)
n.371G>A
c.1043-1738G>A
c.998G>A (p.Gly333Glu)
n.273-1738G>A
n.910-1738G>A
c.2619-1738G>A (n.2619-1738G>A)
c.2405G>A (p.Gly802Glu)
n.3834-1738G>A
c.2655-1738G>A (n.2655-1738G>A)
c.2612G>A (p.Gly871Glu)
c.2744G>A (p.Gly915Glu)
c.2573G>A (p.Gly858Glu)
c.2441G>A (p.Gly814Glu)
c.2225G>A (p.Gly742Glu)
 dbSNP ExAC gnomAD v4 COSMIC
2g.1540683G>CCA345696190TPOc.2708G>C (p.Gly903Ala)
c.2576G>C (p.Gly859Ala)
c.2189G>C (p.Gly730Ala)
c.2537G>C (p.Gly846Ala)
c.2363G>C (p.Gly788Ala)
n.371G>C
c.1043-1738G>C
c.998G>C (p.Gly333Ala)
n.273-1738G>C
n.910-1738G>C
c.2619-1738G>C (n.2619-1738G>C)
c.2405G>C (p.Gly802Ala)
n.3834-1738G>C
c.2655-1738G>C (n.2655-1738G>C)
c.2612G>C (p.Gly871Ala)
c.2744G>C (p.Gly915Ala)
c.2573G>C (p.Gly858Ala)
c.2441G>C (p.Gly814Ala)
c.2225G>C (p.Gly742Ala)
2g.1540683G=CA1233609880TPOc.2708G= (p.Gly903=)
c.2576G= (p.Gly859=)
c.2189G= (p.Gly730=)
c.2537G= (p.Gly846=)
c.2363G= (p.Gly788=)
n.371G=
c.1043-1738G=
c.998G= (p.Gly333=)
n.273-1738G=
n.910-1738G=
c.2619-1738G= (n.2619-1738G=)
c.2405G= (p.Gly802=)
n.3834-1738G=
c.2655-1738G= (n.2655-1738G=)
c.2612G= (p.Gly871=)
c.2744G= (p.Gly915=)
c.2573G= (p.Gly858=)
c.2441G= (p.Gly814=)
c.2225G= (p.Gly742=)
2g.1540683G>TCA345696191TPOc.2708G>T (p.Gly903Val)
c.2576G>T (p.Gly859Val)
c.2189G>T (p.Gly730Val)
c.2537G>T (p.Gly846Val)
c.2363G>T (p.Gly788Val)
n.371G>T
c.1043-1738G>T
c.998G>T (p.Gly333Val)
n.273-1738G>T
n.910-1738G>T
c.2619-1738G>T (n.2619-1738G>T)
c.2405G>T (p.Gly802Val)
n.3834-1738G>T
c.2655-1738G>T (n.2655-1738G>T)
c.2612G>T (p.Gly871Val)
c.2744G>T (p.Gly915Val)
c.2573G>T (p.Gly858Val)
c.2441G>T (p.Gly814Val)
c.2225G>T (p.Gly742Val)
2g.1540684G>ACA424757169TPOc.2709G>A (p.Gly903=)
c.2577G>A (p.Gly859=)
c.2190G>A (p.Gly730=)
c.2538G>A (p.Gly846=)
c.2364G>A (p.Gly788=)
n.372G>A
c.1043-1737G>A
c.999G>A (p.Gly333=)
n.273-1737G>A
n.910-1737G>A
c.2619-1737G>A (n.2619-1737G>A)
c.2406G>A (p.Gly802=)
n.3834-1737G>A
c.2655-1737G>A (n.2655-1737G>A)
c.2613G>A (p.Gly871=)
c.2745G>A (p.Gly915=)
c.2574G>A (p.Gly858=)
c.2442G>A (p.Gly814=)
c.2226G>A (p.Gly742=)
2g.1540684G>CCA424757171TPOc.2709G>C (p.Gly903=)
c.2577G>C (p.Gly859=)
c.2190G>C (p.Gly730=)
c.2538G>C (p.Gly846=)
c.2364G>C (p.Gly788=)
n.372G>C
c.1043-1737G>C
c.999G>C (p.Gly333=)
n.273-1737G>C
n.910-1737G>C
c.2619-1737G>C (n.2619-1737G>C)
c.2406G>C (p.Gly802=)
n.3834-1737G>C
c.2655-1737G>C (n.2655-1737G>C)
c.2613G>C (p.Gly871=)
c.2745G>C (p.Gly915=)
c.2574G>C (p.Gly858=)
c.2442G>C (p.Gly814=)
c.2226G>C (p.Gly742=)
 gnomAD v4
2g.1540684G>TCA424757170TPOc.2709G>T (p.Gly903=)
c.2577G>T (p.Gly859=)
c.2190G>T (p.Gly730=)
c.2538G>T (p.Gly846=)
c.2364G>T (p.Gly788=)
n.372G>T
c.1043-1737G>T
c.999G>T (p.Gly333=)
n.273-1737G>T
n.910-1737G>T
c.2619-1737G>T (n.2619-1737G>T)
c.2406G>T (p.Gly802=)
n.3834-1737G>T
c.2655-1737G>T (n.2655-1737G>T)
c.2613G>T (p.Gly871=)
c.2745G>T (p.Gly915=)
c.2574G>T (p.Gly858=)
c.2442G>T (p.Gly814=)
c.2226G>T (p.Gly742=)
2g.1540685A>CCA345696192TPOc.2710A>C (p.Thr904Pro)
c.2578A>C (p.Thr860Pro)
c.2191A>C (p.Thr731Pro)
c.2539A>C (p.Thr847Pro)
c.2365A>C (p.Thr789Pro)
n.373A>C
c.1043-1736A>C
c.1000A>C (p.Thr334Pro)
n.273-1736A>C
n.910-1736A>C
c.2619-1736A>C (n.2619-1736A>C)
c.2407A>C (p.Thr803Pro)
n.3834-1736A>C
c.2655-1736A>C (n.2655-1736A>C)
c.2614A>C (p.Thr872Pro)
c.2746A>C (p.Thr916Pro)
c.2575A>C (p.Thr859Pro)
c.2443A>C (p.Thr815Pro)
c.2227A>C (p.Thr743Pro)
2g.1540685A>GCA345696193TPOc.2710A>G (p.Thr904Ala)
c.2578A>G (p.Thr860Ala)
c.2191A>G (p.Thr731Ala)
c.2539A>G (p.Thr847Ala)
c.2365A>G (p.Thr789Ala)
n.373A>G
c.1043-1736A>G
c.1000A>G (p.Thr334Ala)
n.273-1736A>G
n.910-1736A>G
c.2619-1736A>G (n.2619-1736A>G)
c.2407A>G (p.Thr803Ala)
n.3834-1736A>G
c.2655-1736A>G (n.2655-1736A>G)
c.2614A>G (p.Thr872Ala)
c.2746A>G (p.Thr916Ala)
c.2575A>G (p.Thr859Ala)
c.2443A>G (p.Thr815Ala)
c.2227A>G (p.Thr743Ala)
2g.1540685A>TCA345696194TPOc.2710A>T (p.Thr904Ser)
c.2578A>T (p.Thr860Ser)
c.2191A>T (p.Thr731Ser)
c.2539A>T (p.Thr847Ser)
c.2365A>T (p.Thr789Ser)
n.373A>T
c.1043-1736A>T
c.1000A>T (p.Thr334Ser)
n.273-1736A>T
n.910-1736A>T
c.2619-1736A>T (n.2619-1736A>T)
c.2407A>T (p.Thr803Ser)
n.3834-1736A>T
c.2655-1736A>T (n.2655-1736A>T)
c.2614A>T (p.Thr872Ser)
c.2746A>T (p.Thr916Ser)
c.2575A>T (p.Thr859Ser)
c.2443A>T (p.Thr815Ser)
c.2227A>T (p.Thr743Ser)
2g.1540688_1540692delCA2657648019TPOc.2713_2717del (p.Ser905AlafsTer?)
c.2581_2585del (p.Ser861AlafsTer?)
c.2194_2198del (p.Ser732AlafsTer?)
c.2542_2546del (p.Ser848AlafsTer?)
c.2368_2372del (p.Ser790AlafsTer?)
n.376_380del
c.1043-1733_1043-1729del
c.1003_1007del (p.Ser335AlafsTer?)
n.273-1733_273-1729del
n.910-1733_910-1729del
c.2619-1733_2619-1729del (n.2619-1733_2619-1729del)
c.2410_2414del (p.Ser804AlafsTer?)
n.3834-1733_3834-1729del
c.2655-1733_2655-1729del (n.2655-1733_2655-1729del)
c.2617_2621del (p.Ser873AlafsTer?)
c.2749_2753del (p.Ser917AlafsTer?)
c.2578_2582del (p.Ser860AlafsTer?)
c.2446_2450del (p.Ser816AlafsTer?)
c.2230_2234del (p.Ser744AlafsTer?)
 gnomAD v4
2g.1540686C>ACA345696196TPOc.2711C>A (p.Thr904Asn)
c.2579C>A (p.Thr860Asn)
c.2192C>A (p.Thr731Asn)
c.2540C>A (p.Thr847Asn)
c.2366C>A (p.Thr789Asn)
n.374C>A
c.1043-1735C>A
c.1001C>A (p.Thr334Asn)
n.273-1735C>A
n.910-1735C>A
c.2619-1735C>A (n.2619-1735C>A)
c.2408C>A (p.Thr803Asn)
n.3834-1735C>A
c.2655-1735C>A (n.2655-1735C>A)
c.2615C>A (p.Thr872Asn)
c.2747C>A (p.Thr916Asn)
c.2576C>A (p.Thr859Asn)
c.2444C>A (p.Thr815Asn)
c.2228C>A (p.Thr743Asn)
 gnomAD v4 COSMIC
2g.1540686C=CA1233609881TPOc.2711C= (p.Thr904=)
c.2579C= (p.Thr860=)
c.2192C= (p.Thr731=)
c.2540C= (p.Thr847=)
c.2366C= (p.Thr789=)
n.374C=
c.1043-1735C=
c.1001C= (p.Thr334=)
n.273-1735C=
n.910-1735C=
c.2619-1735C= (n.2619-1735C=)
c.2408C= (p.Thr803=)
n.3834-1735C=
c.2655-1735C= (n.2655-1735C=)
c.2615C= (p.Thr872=)
c.2747C= (p.Thr916=)
c.2576C= (p.Thr859=)
c.2444C= (p.Thr815=)
c.2228C= (p.Thr743=)
2g.1540686C>GCA345696197TPOc.2711C>G (p.Thr904Ser)
c.2579C>G (p.Thr860Ser)
c.2192C>G (p.Thr731Ser)
c.2540C>G (p.Thr847Ser)
c.2366C>G (p.Thr789Ser)
n.374C>G
c.1043-1735C>G
c.1001C>G (p.Thr334Ser)
n.273-1735C>G
n.910-1735C>G
c.2619-1735C>G (n.2619-1735C>G)
c.2408C>G (p.Thr803Ser)
n.3834-1735C>G
c.2655-1735C>G (n.2655-1735C>G)
c.2615C>G (p.Thr872Ser)
c.2747C>G (p.Thr916Ser)
c.2576C>G (p.Thr859Ser)
c.2444C>G (p.Thr815Ser)
c.2228C>G (p.Thr743Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.1540686C>TCA345696195TPOc.2711C>T (p.Thr904Ile)
c.2579C>T (p.Thr860Ile)
c.2192C>T (p.Thr731Ile)
c.2540C>T (p.Thr847Ile)
c.2366C>T (p.Thr789Ile)
n.374C>T
c.1043-1735C>T
c.1001C>T (p.Thr334Ile)
n.273-1735C>T
n.910-1735C>T
c.2619-1735C>T (n.2619-1735C>T)
c.2408C>T (p.Thr803Ile)
n.3834-1735C>T
c.2655-1735C>T (n.2655-1735C>T)
c.2615C>T (p.Thr872Ile)
c.2747C>T (p.Thr916Ile)
c.2576C>T (p.Thr859Ile)
c.2444C>T (p.Thr815Ile)
c.2228C>T (p.Thr743Ile)
 dbSNP
2g.1540687C>ACA424757172TPOc.2712C>A (p.Thr904=)
c.2580C>A (p.Thr860=)
c.2193C>A (p.Thr731=)
c.2541C>A (p.Thr847=)
c.2367C>A (p.Thr789=)
n.375C>A
c.1043-1734C>A
c.1002C>A (p.Thr334=)
n.273-1734C>A
n.910-1734C>A
c.2619-1734C>A (n.2619-1734C>A)
c.2409C>A (p.Thr803=)
n.3834-1734C>A
c.2655-1734C>A (n.2655-1734C>A)
c.2616C>A (p.Thr872=)
c.2748C>A (p.Thr916=)
c.2577C>A (p.Thr859=)
c.2445C>A (p.Thr815=)
c.2229C>A (p.Thr743=)
2g.1540687C>GCA424757173TPOc.2712C>G (p.Thr904=)
c.2580C>G (p.Thr860=)
c.2193C>G (p.Thr731=)
c.2541C>G (p.Thr847=)
c.2367C>G (p.Thr789=)
n.375C>G
c.1043-1734C>G
c.1002C>G (p.Thr334=)
n.273-1734C>G
n.910-1734C>G
c.2619-1734C>G (n.2619-1734C>G)
c.2409C>G (p.Thr803=)
n.3834-1734C>G
c.2655-1734C>G (n.2655-1734C>G)
c.2616C>G (p.Thr872=)
c.2748C>G (p.Thr916=)
c.2577C>G (p.Thr859=)
c.2445C>G (p.Thr815=)
c.2229C>G (p.Thr743=)
2g.1540687C>TCA424757175TPOc.2712C>T (p.Thr904=)
c.2580C>T (p.Thr860=)
c.2193C>T (p.Thr731=)
c.2541C>T (p.Thr847=)
c.2367C>T (p.Thr789=)
n.375C>T
c.1043-1734C>T
c.1002C>T (p.Thr334=)
n.273-1734C>T
n.910-1734C>T
c.2619-1734C>T (n.2619-1734C>T)
c.2409C>T (p.Thr803=)
n.3834-1734C>T
c.2655-1734C>T (n.2655-1734C>T)
c.2616C>T (p.Thr872=)
c.2748C>T (p.Thr916=)
c.2577C>T (p.Thr859=)
c.2445C>T (p.Thr815=)
c.2229C>T (p.Thr743=)
2g.1540688T>ACA345696198TPOc.2713T>A (p.Ser905Thr)
c.2581T>A (p.Ser861Thr)
c.2194T>A (p.Ser732Thr)
c.2542T>A (p.Ser848Thr)
c.2368T>A (p.Ser790Thr)
n.376T>A
c.1043-1733T>A
c.1003T>A (p.Ser335Thr)
n.273-1733T>A
n.910-1733T>A
c.2619-1733T>A (n.2619-1733T>A)
c.2410T>A (p.Ser804Thr)
n.3834-1733T>A
c.2655-1733T>A (n.2655-1733T>A)
c.2617T>A (p.Ser873Thr)
c.2749T>A (p.Ser917Thr)
c.2578T>A (p.Ser860Thr)
c.2446T>A (p.Ser816Thr)
c.2230T>A (p.Ser744Thr)
2g.1540688T>CCA345696199TPOc.2713T>C (p.Ser905Pro)
c.2581T>C (p.Ser861Pro)
c.2194T>C (p.Ser732Pro)
c.2542T>C (p.Ser848Pro)
c.2368T>C (p.Ser790Pro)
n.376T>C
c.1043-1733T>C
c.1003T>C (p.Ser335Pro)
n.273-1733T>C
n.910-1733T>C
c.2619-1733T>C (n.2619-1733T>C)
c.2410T>C (p.Ser804Pro)
n.3834-1733T>C
c.2655-1733T>C (n.2655-1733T>C)
c.2617T>C (p.Ser873Pro)
c.2749T>C (p.Ser917Pro)
c.2578T>C (p.Ser860Pro)
c.2446T>C (p.Ser816Pro)
c.2230T>C (p.Ser744Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.1540688T>GCA345696200TPOc.2713T>G (p.Ser905Ala)
c.2581T>G (p.Ser861Ala)
c.2194T>G (p.Ser732Ala)
c.2542T>G (p.Ser848Ala)
c.2368T>G (p.Ser790Ala)
n.376T>G
c.1043-1733T>G
c.1003T>G (p.Ser335Ala)
n.273-1733T>G
n.910-1733T>G
c.2619-1733T>G (n.2619-1733T>G)
c.2410T>G (p.Ser804Ala)
n.3834-1733T>G
c.2655-1733T>G (n.2655-1733T>G)
c.2617T>G (p.Ser873Ala)
c.2749T>G (p.Ser917Ala)
c.2578T>G (p.Ser860Ala)
c.2446T>G (p.Ser816Ala)
c.2230T>G (p.Ser744Ala)
2g.1540688T=CA1233609882TPOc.2713T= (p.Ser905=)
c.2581T= (p.Ser861=)
c.2194T= (p.Ser732=)
c.2542T= (p.Ser848=)
c.2368T= (p.Ser790=)
n.376T=
c.1043-1733T=
c.1003T= (p.Ser335=)
n.273-1733T=
n.910-1733T=
c.2619-1733T= (n.2619-1733T=)
c.2410T= (p.Ser804=)
n.3834-1733T=
c.2655-1733T= (n.2655-1733T=)
c.2617T= (p.Ser873=)
c.2749T= (p.Ser917=)
c.2578T= (p.Ser860=)
c.2446T= (p.Ser816=)
c.2230T= (p.Ser744=)
2g.1540688_1540756delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGCCA1233609883TPOc.2713_2748+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2581_2616+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2194_2229+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2542_2577+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2368_2436delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC (p.Ser790=)
n.376_411+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.1043-1733_1043-1665delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.1003_1038+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
n.273-1733_273-1665delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
n.910-1733_910-1665delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2581_2649delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC (p.Ser861=)
c.2619-1733_2619-1665delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC (n.2619-1733_2619-1665delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC)
c.2410_2445+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
n.3834-1733_3834-1665delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2655-1733_2655-1665delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC (n.2655-1733_2655-1665delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC)
c.2617_2685delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC (p.Ser873=)
c.2749_2784+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2617_2652+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2578_2613+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2446_2481+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
c.2230_2265+33delinsTCACCGCAGCGGGCCGCAGCTCAGGACTCGGAGCAGGTGGGCCACACCATGCCGCATGTTTCCAGCTGC
2g.1540689C>ACA41406387TPOc.2714C>A (p.Ser905Ter)
c.2582C>A (p.Ser861Ter)
c.2195C>A (p.Ser732Ter)
c.2543C>A (p.Ser848Ter)
c.2369C>A (p.Ser790Ter)
n.377C>A
c.1043-1732C>A
c.1004C>A (p.Ser335Ter)
n.273-1732C>A
n.910-1732C>A
c.2619-1732C>A (n.2619-1732C>A)
c.2411C>A (p.Ser804Ter)
n.3834-1732C>A
c.2655-1732C>A (n.2655-1732C>A)
c.2618C>A (p.Ser873Ter)
c.2750C>A (p.Ser917Ter)
c.2579C>A (p.Ser860Ter)
c.2447C>A (p.Ser816Ter)
c.2231C>A (p.Ser744Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1540689C=CA1233609884TPOc.2714C= (p.Ser905=)
c.2582C= (p.Ser861=)
c.2195C= (p.Ser732=)
c.2543C= (p.Ser848=)
c.2369C= (p.Ser790=)
n.377C=
c.1043-1732C=
c.1004C= (p.Ser335=)
n.273-1732C=
n.910-1732C=
c.2619-1732C= (n.2619-1732C=)
c.2411C= (p.Ser804=)
n.3834-1732C=
c.2655-1732C= (n.2655-1732C=)
c.2618C= (p.Ser873=)
c.2750C= (p.Ser917=)
c.2579C= (p.Ser860=)
c.2447C= (p.Ser816=)
c.2231C= (p.Ser744=)
2g.1540689C>GCA345696201TPOc.2714C>G (p.Ser905Ter)
c.2582C>G (p.Ser861Ter)
c.2195C>G (p.Ser732Ter)
c.2543C>G (p.Ser848Ter)
c.2369C>G (p.Ser790Ter)
n.377C>G
c.1043-1732C>G
c.1004C>G (p.Ser335Ter)
n.273-1732C>G
n.910-1732C>G
c.2619-1732C>G (n.2619-1732C>G)
c.2411C>G (p.Ser804Ter)
n.3834-1732C>G
c.2655-1732C>G (n.2655-1732C>G)
c.2618C>G (p.Ser873Ter)
c.2750C>G (p.Ser917Ter)
c.2579C>G (p.Ser860Ter)
c.2447C>G (p.Ser816Ter)
c.2231C>G (p.Ser744Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.1540689C>TCA345696202TPOc.2714C>T (p.Ser905Leu)
c.2582C>T (p.Ser861Leu)
c.2195C>T (p.Ser732Leu)
c.2543C>T (p.Ser848Leu)
c.2369C>T (p.Ser790Leu)
n.377C>T
c.1043-1732C>T
c.1004C>T (p.Ser335Leu)
n.273-1732C>T
n.910-1732C>T
c.2619-1732C>T (n.2619-1732C>T)
c.2411C>T (p.Ser804Leu)
n.3834-1732C>T
c.2655-1732C>T (n.2655-1732C>T)
c.2618C>T (p.Ser873Leu)
c.2750C>T (p.Ser917Leu)
c.2579C>T (p.Ser860Leu)
c.2447C>T (p.Ser816Leu)
c.2231C>T (p.Ser744Leu)
2g.1540697_1540764delCA530837304TPOc.2722_2748+41del
c.2590_2616+41del
c.2203_2229+41del
c.2551_2577+41del
c.2377_2444del (p.Arg793TrpfsTer?)
n.385_411+41del
c.1043-1724_1043-1657del
c.1012_1038+41del
n.273-1724_273-1657del
n.910-1724_910-1657del
c.2590_2657del (p.Arg864TrpfsTer?)
c.2619-1724_2619-1657del (n.2619-1724_2619-1657del)
c.2419_2445+41del
n.3834-1724_3834-1657del
c.2655-1724_2655-1657del (n.2655-1724_2655-1657del)
c.2626_2693del (p.Arg876TrpfsTer?)
c.2758_2784+41del
c.2626_2652+41del
c.2587_2613+41del
c.2455_2481+41del
c.2239_2265+41del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.1540690A=CA1233609886TPOc.2715A= (p.Ser905=)
c.2583A= (p.Ser861=)
c.2196A= (p.Ser732=)
c.2544A= (p.Ser848=)
c.2370A= (p.Ser790=)
n.378A=
c.1043-1731A=
c.1005A= (p.Ser335=)
n.273-1731A=
n.910-1731A=
c.2619-1731A= (n.2619-1731A=)
c.2412A= (p.Ser804=)
n.3834-1731A=
c.2655-1731A= (n.2655-1731A=)
c.2619A= (p.Ser873=)
c.2751A= (p.Ser917=)
c.2580A= (p.Ser860=)
c.2448A= (p.Ser816=)
c.2232A= (p.Ser744=)
2g.1540690A>CCA424757181TPOc.2715A>C (p.Ser905=)
c.2583A>C (p.Ser861=)
c.2196A>C (p.Ser732=)
c.2544A>C (p.Ser848=)
c.2370A>C (p.Ser790=)
n.378A>C
c.1043-1731A>C
c.1005A>C (p.Ser335=)
n.273-1731A>C
n.910-1731A>C
c.2619-1731A>C (n.2619-1731A>C)
c.2412A>C (p.Ser804=)
n.3834-1731A>C
c.2655-1731A>C (n.2655-1731A>C)
c.2619A>C (p.Ser873=)
c.2751A>C (p.Ser917=)
c.2580A>C (p.Ser860=)
c.2448A>C (p.Ser816=)
c.2232A>C (p.Ser744=)
2g.1540690A>GCA424757183TPOc.2715A>G (p.Ser905=)
c.2583A>G (p.Ser861=)
c.2196A>G (p.Ser732=)
c.2544A>G (p.Ser848=)
c.2370A>G (p.Ser790=)
n.378A>G
c.1043-1731A>G
c.1005A>G (p.Ser335=)
n.273-1731A>G
n.910-1731A>G
c.2619-1731A>G (n.2619-1731A>G)
c.2412A>G (p.Ser804=)
n.3834-1731A>G
c.2655-1731A>G (n.2655-1731A>G)
c.2619A>G (p.Ser873=)
c.2751A>G (p.Ser917=)
c.2580A>G (p.Ser860=)
c.2448A>G (p.Ser816=)
c.2232A>G (p.Ser744=)
 dbSNP gnomAD v2 gnomAD v4
2g.1540690A>TCA424757184TPOc.2715A>T (p.Ser905=)
c.2583A>T (p.Ser861=)
c.2196A>T (p.Ser732=)
c.2544A>T (p.Ser848=)
c.2370A>T (p.Ser790=)
n.378A>T
c.1043-1731A>T
c.1005A>T (p.Ser335=)
n.273-1731A>T
n.910-1731A>T
c.2619-1731A>T (n.2619-1731A>T)
c.2412A>T (p.Ser804=)
n.3834-1731A>T
c.2655-1731A>T (n.2655-1731A>T)
c.2619A>T (p.Ser873=)
c.2751A>T (p.Ser917=)
c.2580A>T (p.Ser860=)
c.2448A>T (p.Ser816=)
c.2232A>T (p.Ser744=)
2g.1540690_1540699dupCA1512257TPOc.2715_2724dup (p.Ala909ThrfsTer?)
c.2583_2592dup (p.Ala865ThrfsTer?)
c.2196_2205dup (p.Ala736ThrfsTer?)
c.2544_2553dup (p.Ala852ThrfsTer?)
c.2370_2379dup (p.Ala794ThrfsTer?)
n.378_387dup
c.1043-1731_1043-1722dup
c.1005_1014dup (p.Ala339ThrfsTer?)
n.273-1731_273-1722dup
n.910-1731_910-1722dup
c.2619-1731_2619-1722dup (n.2619-1731_2619-1722dup)
c.2412_2421dup (p.Ala808ThrfsTer?)
n.3834-1731_3834-1722dup
c.2655-1731_2655-1722dup (n.2655-1731_2655-1722dup)
c.2619_2628dup (p.Ala877ThrfsTer?)
c.2751_2760dup (p.Ala921ThrfsTer?)
c.2580_2589dup (p.Ala864ThrfsTer?)
c.2448_2457dup (p.Ala820ThrfsTer?)
c.2232_2241dup (p.Ala748ThrfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540690_1540700delinsACCGCAGCGGGCA1233609885TPOc.2715_2725delinsACCGCAGCGGG (p.Ser905=)
c.2583_2593delinsACCGCAGCGGG (p.Ser861=)
c.2196_2206delinsACCGCAGCGGG (p.Ser732=)
c.2544_2554delinsACCGCAGCGGG (p.Ser848=)
c.2370_2380delinsACCGCAGCGGG (p.Ser790=)
n.378_388delinsACCGCAGCGGG
c.1043-1731_1043-1721delinsACCGCAGCGGG
c.1005_1015delinsACCGCAGCGGG (p.Ser335=)
n.273-1731_273-1721delinsACCGCAGCGGG
n.910-1731_910-1721delinsACCGCAGCGGG
c.2619-1731_2619-1721delinsACCGCAGCGGG (n.2619-1731_2619-1721delinsACCGCAGCGGG)
c.2412_2422delinsACCGCAGCGGG (p.Ser804=)
n.3834-1731_3834-1721delinsACCGCAGCGGG
c.2655-1731_2655-1721delinsACCGCAGCGGG (n.2655-1731_2655-1721delinsACCGCAGCGGG)
c.2619_2629delinsACCGCAGCGGG (p.Ser873=)
c.2751_2761delinsACCGCAGCGGG (p.Ser917=)
c.2580_2590delinsACCGCAGCGGG (p.Ser860=)
c.2448_2458delinsACCGCAGCGGG (p.Ser816=)
c.2232_2242delinsACCGCAGCGGG (p.Ser744=)
2g.1540691C>ACA345696203TPOc.2716C>A (p.Pro906Thr)
c.2584C>A (p.Pro862Thr)
c.2197C>A (p.Pro733Thr)
c.2545C>A (p.Pro849Thr)
c.2371C>A (p.Pro791Thr)
n.379C>A
c.1043-1730C>A
c.1006C>A (p.Pro336Thr)
n.273-1730C>A
n.910-1730C>A
c.2619-1730C>A (n.2619-1730C>A)
c.2413C>A (p.Pro805Thr)
n.3834-1730C>A
c.2655-1730C>A (n.2655-1730C>A)
c.2620C>A (p.Pro874Thr)
c.2752C>A (p.Pro918Thr)
c.2581C>A (p.Pro861Thr)
c.2449C>A (p.Pro817Thr)
c.2233C>A (p.Pro745Thr)
2g.1540691C>GCA345696204TPOc.2716C>G (p.Pro906Ala)
c.2584C>G (p.Pro862Ala)
c.2197C>G (p.Pro733Ala)
c.2545C>G (p.Pro849Ala)
c.2371C>G (p.Pro791Ala)
n.379C>G
c.1043-1730C>G
c.1006C>G (p.Pro336Ala)
n.273-1730C>G
n.910-1730C>G
c.2619-1730C>G (n.2619-1730C>G)
c.2413C>G (p.Pro805Ala)
n.3834-1730C>G
c.2655-1730C>G (n.2655-1730C>G)
c.2620C>G (p.Pro874Ala)
c.2752C>G (p.Pro918Ala)
c.2581C>G (p.Pro861Ala)
c.2449C>G (p.Pro817Ala)
c.2233C>G (p.Pro745Ala)
2g.1540691C>TCA345696205TPOc.2716C>T (p.Pro906Ser)
c.2584C>T (p.Pro862Ser)
c.2197C>T (p.Pro733Ser)
c.2545C>T (p.Pro849Ser)
c.2371C>T (p.Pro791Ser)
n.379C>T
c.1043-1730C>T
c.1006C>T (p.Pro336Ser)
n.273-1730C>T
n.910-1730C>T
c.2619-1730C>T (n.2619-1730C>T)
c.2413C>T (p.Pro805Ser)
n.3834-1730C>T
c.2655-1730C>T (n.2655-1730C>T)
c.2620C>T (p.Pro874Ser)
c.2752C>T (p.Pro918Ser)
c.2581C>T (p.Pro861Ser)
c.2449C>T (p.Pro817Ser)
c.2233C>T (p.Pro745Ser)
 gnomAD v4
2g.1540692delCA2657648020TPOc.2717del (p.Pro906ArgfsTer?)
c.2585del (p.Pro862ArgfsTer?)
c.2198del (p.Pro733ArgfsTer?)
c.2546del (p.Pro849ArgfsTer?)
c.2372del (p.Pro791ArgfsTer?)
n.380del
c.1043-1729del
c.1007del (p.Pro336ArgfsTer?)
n.273-1729del
n.910-1729del
c.2619-1729del (n.2619-1729del)
c.2414del (p.Pro805ArgfsTer?)
n.3834-1729del
c.2655-1729del (n.2655-1729del)
c.2621del (p.Pro874ArgfsTer?)
c.2753del (p.Pro918ArgfsTer?)
c.2582del (p.Pro861ArgfsTer?)
c.2450del (p.Pro817ArgfsTer?)
c.2234del (p.Pro745ArgfsTer?)
 gnomAD v4
2g.1540691_1540696delinsCCGCAGCA1233609887TPOc.2716_2721delinsCCGCAG (p.Pro906=)
c.2584_2589delinsCCGCAG (p.Pro862=)
c.2197_2202delinsCCGCAG (p.Pro733=)
c.2545_2550delinsCCGCAG (p.Pro849=)
c.2371_2376delinsCCGCAG (p.Pro791=)
n.379_384delinsCCGCAG
c.1043-1730_1043-1725delinsCCGCAG
c.1006_1011delinsCCGCAG (p.Pro336=)
n.273-1730_273-1725delinsCCGCAG
n.910-1730_910-1725delinsCCGCAG
c.2619-1730_2619-1725delinsCCGCAG (n.2619-1730_2619-1725delinsCCGCAG)
c.2413_2418delinsCCGCAG (p.Pro805=)
n.3834-1730_3834-1725delinsCCGCAG
c.2655-1730_2655-1725delinsCCGCAG (n.2655-1730_2655-1725delinsCCGCAG)
c.2620_2625delinsCCGCAG (p.Pro874=)
c.2752_2757delinsCCGCAG (p.Pro918=)
c.2581_2586delinsCCGCAG (p.Pro861=)
c.2449_2454delinsCCGCAG (p.Pro817=)
c.2233_2238delinsCCGCAG (p.Pro745=)
2g.1540698_1540707dupCA759045590TPOc.2723_2732dup (p.Gln912GlyfsTer?)
c.2591_2600dup (p.Gln868GlyfsTer?)
c.2204_2213dup (p.Gln739GlyfsTer?)
c.2552_2561dup (p.Gln855GlyfsTer?)
c.2378_2387dup (p.Gln797GlyfsTer?)
n.386_395dup
c.1043-1723_1043-1714dup
c.1013_1022dup (p.Gln342GlyfsTer?)
n.273-1723_273-1714dup
n.910-1723_910-1714dup
c.2619-1723_2619-1714dup (n.2619-1723_2619-1714dup)
c.2420_2429dup (p.Gln811GlyfsTer?)
n.3834-1723_3834-1714dup
c.2655-1723_2655-1714dup (n.2655-1723_2655-1714dup)
c.2627_2636dup (p.Gln880GlyfsTer?)
c.2759_2768dup (p.Gln924GlyfsTer?)
c.2588_2597dup (p.Gln867GlyfsTer?)
c.2456_2465dup (p.Gln823GlyfsTer?)
c.2240_2249dup (p.Gln751GlyfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.1540698_1540707delCA1512258TPOc.2723_2732del (p.Arg908LeufsTer?)
c.2591_2600del (p.Arg864LeufsTer?)
c.2204_2213del (p.Arg735LeufsTer?)
c.2552_2561del (p.Arg851LeufsTer?)
c.2378_2387del (p.Arg793LeufsTer?)
n.386_395del
c.1043-1723_1043-1714del
c.1013_1022del (p.Arg338LeufsTer?)
n.273-1723_273-1714del
n.910-1723_910-1714del
c.2619-1723_2619-1714del (n.2619-1723_2619-1714del)
c.2420_2429del (p.Arg807LeufsTer?)
n.3834-1723_3834-1714del
c.2655-1723_2655-1714del (n.2655-1723_2655-1714del)
c.2627_2636del (p.Arg876LeufsTer?)
c.2759_2768del (p.Arg920LeufsTer?)
c.2588_2597del (p.Arg863LeufsTer?)
c.2456_2465del (p.Arg819LeufsTer?)
c.2240_2249del (p.Arg747LeufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540692C>ACA345696206TPOc.2717C>A (p.Pro906Gln)
c.2585C>A (p.Pro862Gln)
c.2198C>A (p.Pro733Gln)
c.2546C>A (p.Pro849Gln)
c.2372C>A (p.Pro791Gln)
n.380C>A
c.1043-1729C>A
c.1007C>A (p.Pro336Gln)
n.273-1729C>A
n.910-1729C>A
c.2619-1729C>A (n.2619-1729C>A)
c.2414C>A (p.Pro805Gln)
n.3834-1729C>A
c.2655-1729C>A (n.2655-1729C>A)
c.2621C>A (p.Pro874Gln)
c.2753C>A (p.Pro918Gln)
c.2582C>A (p.Pro861Gln)
c.2450C>A (p.Pro817Gln)
c.2234C>A (p.Pro745Gln)
 dbSNP gnomAD v2 gnomAD v4
2g.1540692C=CA1233609888TPOc.2717C= (p.Pro906=)
c.2585C= (p.Pro862=)
c.2198C= (p.Pro733=)
c.2546C= (p.Pro849=)
c.2372C= (p.Pro791=)
n.380C=
c.1043-1729C=
c.1007C= (p.Pro336=)
n.273-1729C=
n.910-1729C=
c.2619-1729C= (n.2619-1729C=)
c.2414C= (p.Pro805=)
n.3834-1729C=
c.2655-1729C= (n.2655-1729C=)
c.2621C= (p.Pro874=)
c.2753C= (p.Pro918=)
c.2582C= (p.Pro861=)
c.2450C= (p.Pro817=)
c.2234C= (p.Pro745=)
2g.1540692C>GCA345696207TPOc.2717C>G (p.Pro906Arg)
c.2585C>G (p.Pro862Arg)
c.2198C>G (p.Pro733Arg)
c.2546C>G (p.Pro849Arg)
c.2372C>G (p.Pro791Arg)
n.380C>G
c.1043-1729C>G
c.1007C>G (p.Pro336Arg)
n.273-1729C>G
n.910-1729C>G
c.2619-1729C>G (n.2619-1729C>G)
c.2414C>G (p.Pro805Arg)
n.3834-1729C>G
c.2655-1729C>G (n.2655-1729C>G)
c.2621C>G (p.Pro874Arg)
c.2753C>G (p.Pro918Arg)
c.2582C>G (p.Pro861Arg)
c.2450C>G (p.Pro817Arg)
c.2234C>G (p.Pro745Arg)
2g.1540692C>TCA1512259TPOc.2717C>T (p.Pro906Leu)
c.2585C>T (p.Pro862Leu)
c.2198C>T (p.Pro733Leu)
c.2546C>T (p.Pro849Leu)
c.2372C>T (p.Pro791Leu)
n.380C>T
c.1043-1729C>T
c.1007C>T (p.Pro336Leu)
n.273-1729C>T
n.910-1729C>T
c.2619-1729C>T (n.2619-1729C>T)
c.2414C>T (p.Pro805Leu)
n.3834-1729C>T
c.2655-1729C>T (n.2655-1729C>T)
c.2621C>T (p.Pro874Leu)
c.2753C>T (p.Pro918Leu)
c.2582C>T (p.Pro861Leu)
c.2450C>T (p.Pro817Leu)
c.2234C>T (p.Pro745Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540694_1540698delCA530837326TPOc.2719_2723del (p.Gln907GlyfsTer?)
c.2587_2591del (p.Gln863GlyfsTer?)
c.2200_2204del (p.Gln734GlyfsTer?)
c.2548_2552del (p.Gln850GlyfsTer?)
c.2374_2378del (p.Gln792GlyfsTer?)
n.382_386del
c.1043-1727_1043-1723del
c.1009_1013del (p.Gln337GlyfsTer?)
n.273-1727_273-1723del
n.910-1727_910-1723del
c.2619-1727_2619-1723del (n.2619-1727_2619-1723del)
c.2416_2420del (p.Gln806GlyfsTer?)
n.3834-1727_3834-1723del
c.2655-1727_2655-1723del (n.2655-1727_2655-1723del)
c.2623_2627del (p.Gln875GlyfsTer?)
c.2755_2759del (p.Gln919GlyfsTer?)
c.2584_2588del (p.Gln862GlyfsTer?)
c.2452_2456del (p.Gln818GlyfsTer?)
c.2236_2240del (p.Gln746GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.1540693G>ACA41406398TPOc.2718G>A (p.Pro906=)
c.2586G>A (p.Pro862=)
c.2199G>A (p.Pro733=)
c.2547G>A (p.Pro849=)
c.2373G>A (p.Pro791=)
n.381G>A
c.1043-1728G>A
c.1008G>A (p.Pro336=)
n.273-1728G>A
n.910-1728G>A
c.2619-1728G>A (n.2619-1728G>A)
c.2415G>A (p.Pro805=)
n.3834-1728G>A
c.2655-1728G>A (n.2655-1728G>A)
c.2622G>A (p.Pro874=)
c.2754G>A (p.Pro918=)
c.2583G>A (p.Pro861=)
c.2451G>A (p.Pro817=)
c.2235G>A (p.Pro745=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1540693G>CCA424757189TPOc.2718G>C (p.Pro906=)
c.2586G>C (p.Pro862=)
c.2199G>C (p.Pro733=)
c.2547G>C (p.Pro849=)
c.2373G>C (p.Pro791=)
n.381G>C
c.1043-1728G>C
c.1008G>C (p.Pro336=)
n.273-1728G>C
n.910-1728G>C
c.2619-1728G>C (n.2619-1728G>C)
c.2415G>C (p.Pro805=)
n.3834-1728G>C
c.2655-1728G>C (n.2655-1728G>C)
c.2622G>C (p.Pro874=)
c.2754G>C (p.Pro918=)
c.2583G>C (p.Pro861=)
c.2451G>C (p.Pro817=)
c.2235G>C (p.Pro745=)
2g.1540693G=CA1233609889TPOc.2718G= (p.Pro906=)
c.2586G= (p.Pro862=)
c.2199G= (p.Pro733=)
c.2547G= (p.Pro849=)
c.2373G= (p.Pro791=)
n.381G=
c.1043-1728G=
c.1008G= (p.Pro336=)
n.273-1728G=
n.910-1728G=
c.2619-1728G= (n.2619-1728G=)
c.2415G= (p.Pro805=)
n.3834-1728G=
c.2655-1728G= (n.2655-1728G=)
c.2622G= (p.Pro874=)
c.2754G= (p.Pro918=)
c.2583G= (p.Pro861=)
c.2451G= (p.Pro817=)
c.2235G= (p.Pro745=)
2g.1540693G>TCA424757192TPOc.2718G>T (p.Pro906=)
c.2586G>T (p.Pro862=)
c.2199G>T (p.Pro733=)
c.2547G>T (p.Pro849=)
c.2373G>T (p.Pro791=)
n.381G>T
c.1043-1728G>T
c.1008G>T (p.Pro336=)
n.273-1728G>T
n.910-1728G>T
c.2619-1728G>T (n.2619-1728G>T)
c.2415G>T (p.Pro805=)
n.3834-1728G>T
c.2655-1728G>T (n.2655-1728G>T)
c.2622G>T (p.Pro874=)
c.2754G>T (p.Pro918=)
c.2583G>T (p.Pro861=)
c.2451G>T (p.Pro817=)
c.2235G>T (p.Pro745=)
2g.1540694C>ACA345696208TPOc.2719C>A (p.Gln907Lys)
c.2587C>A (p.Gln863Lys)
c.2200C>A (p.Gln734Lys)
c.2548C>A (p.Gln850Lys)
c.2374C>A (p.Gln792Lys)
n.382C>A
c.1043-1727C>A
c.1009C>A (p.Gln337Lys)
n.273-1727C>A
n.910-1727C>A
c.2619-1727C>A (n.2619-1727C>A)
c.2416C>A (p.Gln806Lys)
n.3834-1727C>A
c.2655-1727C>A (n.2655-1727C>A)
c.2623C>A (p.Gln875Lys)
c.2755C>A (p.Gln919Lys)
c.2584C>A (p.Gln862Lys)
c.2452C>A (p.Gln818Lys)
c.2236C>A (p.Gln746Lys)
2g.1540694C>GCA345696209TPOc.2719C>G (p.Gln907Glu)
c.2587C>G (p.Gln863Glu)
c.2200C>G (p.Gln734Glu)
c.2548C>G (p.Gln850Glu)
c.2374C>G (p.Gln792Glu)
n.382C>G
c.1043-1727C>G
c.1009C>G (p.Gln337Glu)
n.273-1727C>G
n.910-1727C>G
c.2619-1727C>G (n.2619-1727C>G)
c.2416C>G (p.Gln806Glu)
n.3834-1727C>G
c.2655-1727C>G (n.2655-1727C>G)
c.2623C>G (p.Gln875Glu)
c.2755C>G (p.Gln919Glu)
c.2584C>G (p.Gln862Glu)
c.2452C>G (p.Gln818Glu)
c.2236C>G (p.Gln746Glu)
2g.1540694C>TCA345696210TPOc.2719C>T (p.Gln907Ter)
c.2587C>T (p.Gln863Ter)
c.2200C>T (p.Gln734Ter)
c.2548C>T (p.Gln850Ter)
c.2374C>T (p.Gln792Ter)
n.382C>T
c.1043-1727C>T
c.1009C>T (p.Gln337Ter)
n.273-1727C>T
n.910-1727C>T
c.2619-1727C>T (n.2619-1727C>T)
c.2416C>T (p.Gln806Ter)
n.3834-1727C>T
c.2655-1727C>T (n.2655-1727C>T)
c.2623C>T (p.Gln875Ter)
c.2755C>T (p.Gln919Ter)
c.2584C>T (p.Gln862Ter)
c.2452C>T (p.Gln818Ter)
c.2236C>T (p.Gln746Ter)
 gnomAD v4
2g.1540694_1540699delinsCAGCGGCA1233609890TPOc.2719_2724delinsCAGCGG (p.Gln907=)
c.2587_2592delinsCAGCGG (p.Gln863=)
c.2200_2205delinsCAGCGG (p.Gln734=)
c.2548_2553delinsCAGCGG (p.Gln850=)
c.2374_2379delinsCAGCGG (p.Gln792=)
n.382_387delinsCAGCGG
c.1043-1727_1043-1722delinsCAGCGG
c.1009_1014delinsCAGCGG (p.Gln337=)
n.273-1727_273-1722delinsCAGCGG
n.910-1727_910-1722delinsCAGCGG
c.2619-1727_2619-1722delinsCAGCGG (n.2619-1727_2619-1722delinsCAGCGG)
c.2416_2421delinsCAGCGG (p.Gln806=)
n.3834-1727_3834-1722delinsCAGCGG
c.2655-1727_2655-1722delinsCAGCGG (n.2655-1727_2655-1722delinsCAGCGG)
c.2623_2628delinsCAGCGG (p.Gln875=)
c.2755_2760delinsCAGCGG (p.Gln919=)
c.2584_2589delinsCAGCGG (p.Gln862=)
c.2452_2457delinsCAGCGG (p.Gln818=)
c.2236_2241delinsCAGCGG (p.Gln746=)
2g.1540699_1540700insACCTCAGCGGCA759045603TPOc.2724_2725insACCTCAGCGG (p.Ala909ThrfsTer?)
c.2592_2593insACCTCAGCGG (p.Ala865ThrfsTer?)
c.2205_2206insACCTCAGCGG (p.Ala736ThrfsTer?)
c.2553_2554insACCTCAGCGG (p.Ala852ThrfsTer?)
c.2379_2380insACCTCAGCGG (p.Ala794ThrfsTer?)
n.387_388insACCTCAGCGG
c.1043-1722_1043-1721insACCTCAGCGG
c.1014_1015insACCTCAGCGG (p.Ala339ThrfsTer?)
n.273-1722_273-1721insACCTCAGCGG
n.910-1722_910-1721insACCTCAGCGG
c.2619-1722_2619-1721insACCTCAGCGG (n.2619-1722_2619-1721insACCTCAGCGG)
c.2421_2422insACCTCAGCGG (p.Ala808ThrfsTer?)
n.3834-1722_3834-1721insACCTCAGCGG
c.2655-1722_2655-1721insACCTCAGCGG (n.2655-1722_2655-1721insACCTCAGCGG)
c.2628_2629insACCTCAGCGG (p.Ala877ThrfsTer?)
c.2760_2761insACCTCAGCGG (p.Ala921ThrfsTer?)
c.2589_2590insACCTCAGCGG (p.Ala864ThrfsTer?)
c.2457_2458insACCTCAGCGG (p.Ala820ThrfsTer?)
c.2241_2242insACCTCAGCGG (p.Ala748ThrfsTer?)
 dbSNP
2g.1540695A=CA1233609891TPOc.2720A= (p.Gln907=)
c.2588A= (p.Gln863=)
c.2201A= (p.Gln734=)
c.2549A= (p.Gln850=)
c.2375A= (p.Gln792=)
n.383A=
c.1043-1726A=
c.1010A= (p.Gln337=)
n.273-1726A=
n.910-1726A=
c.2619-1726A= (n.2619-1726A=)
c.2417A= (p.Gln806=)
n.3834-1726A=
c.2655-1726A= (n.2655-1726A=)
c.2624A= (p.Gln875=)
c.2756A= (p.Gln919=)
c.2585A= (p.Gln862=)
c.2453A= (p.Gln818=)
c.2237A= (p.Gln746=)
2g.1540695A>CCA345696211TPOc.2720A>C (p.Gln907Pro)
c.2588A>C (p.Gln863Pro)
c.2201A>C (p.Gln734Pro)
c.2549A>C (p.Gln850Pro)
c.2375A>C (p.Gln792Pro)
n.383A>C
c.1043-1726A>C
c.1010A>C (p.Gln337Pro)
n.273-1726A>C
n.910-1726A>C
c.2619-1726A>C (n.2619-1726A>C)
c.2417A>C (p.Gln806Pro)
n.3834-1726A>C
c.2655-1726A>C (n.2655-1726A>C)
c.2624A>C (p.Gln875Pro)
c.2756A>C (p.Gln919Pro)
c.2585A>C (p.Gln862Pro)
c.2453A>C (p.Gln818Pro)
c.2237A>C (p.Gln746Pro)
2g.1540695A>GCA345696212TPOc.2720A>G (p.Gln907Arg)
c.2588A>G (p.Gln863Arg)
c.2201A>G (p.Gln734Arg)
c.2549A>G (p.Gln850Arg)
c.2375A>G (p.Gln792Arg)
n.383A>G
c.1043-1726A>G
c.1010A>G (p.Gln337Arg)
n.273-1726A>G
n.910-1726A>G
c.2619-1726A>G (n.2619-1726A>G)
c.2417A>G (p.Gln806Arg)
n.3834-1726A>G
c.2655-1726A>G (n.2655-1726A>G)
c.2624A>G (p.Gln875Arg)
c.2756A>G (p.Gln919Arg)
c.2585A>G (p.Gln862Arg)
c.2453A>G (p.Gln818Arg)
c.2237A>G (p.Gln746Arg)
 dbSNP gnomAD v4
2g.1540695A>TCA345696213TPOc.2720A>T (p.Gln907Leu)
c.2588A>T (p.Gln863Leu)
c.2201A>T (p.Gln734Leu)
c.2549A>T (p.Gln850Leu)
c.2375A>T (p.Gln792Leu)
n.383A>T
c.1043-1726A>T
c.1010A>T (p.Gln337Leu)
n.273-1726A>T
n.910-1726A>T
c.2619-1726A>T (n.2619-1726A>T)
c.2417A>T (p.Gln806Leu)
n.3834-1726A>T
c.2655-1726A>T (n.2655-1726A>T)
c.2624A>T (p.Gln875Leu)
c.2756A>T (p.Gln919Leu)
c.2585A>T (p.Gln862Leu)
c.2453A>T (p.Gln818Leu)
c.2237A>T (p.Gln746Leu)
2g.1540695_1540699delCA1512260TPOc.2720_2724del (p.Gln907ArgfsTer?)
c.2588_2592del (p.Gln863ArgfsTer?)
c.2201_2205del (p.Gln734ArgfsTer?)
c.2549_2553del (p.Gln850ArgfsTer?)
c.2375_2379del (p.Gln792ArgfsTer?)
n.383_387del
c.1043-1726_1043-1722del
c.1010_1014del (p.Gln337ArgfsTer?)
n.273-1726_273-1722del
n.910-1726_910-1722del
c.2619-1726_2619-1722del (n.2619-1726_2619-1722del)
c.2417_2421del (p.Gln806ArgfsTer?)
n.3834-1726_3834-1722del
c.2655-1726_2655-1722del (n.2655-1726_2655-1722del)
c.2624_2628del (p.Gln875ArgfsTer?)
c.2756_2760del (p.Gln919ArgfsTer?)
c.2585_2589del (p.Gln862ArgfsTer?)
c.2453_2457del (p.Gln818ArgfsTer?)
c.2237_2241del (p.Gln746ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540696G>ACA424757193TPOc.2721G>A (p.Gln907=)
c.2589G>A (p.Gln863=)
c.2202G>A (p.Gln734=)
c.2550G>A (p.Gln850=)
c.2376G>A (p.Gln792=)
n.384G>A
c.1043-1725G>A
c.1011G>A (p.Gln337=)
n.273-1725G>A
n.910-1725G>A
c.2619-1725G>A (n.2619-1725G>A)
c.2418G>A (p.Gln806=)
n.3834-1725G>A
c.2655-1725G>A (n.2655-1725G>A)
c.2625G>A (p.Gln875=)
c.2757G>A (p.Gln919=)
c.2586G>A (p.Gln862=)
c.2454G>A (p.Gln818=)
c.2238G>A (p.Gln746=)
2g.1540696G>CCA345696214TPOc.2721G>C (p.Gln907His)
c.2589G>C (p.Gln863His)
c.2202G>C (p.Gln734His)
c.2550G>C (p.Gln850His)
c.2376G>C (p.Gln792His)
n.384G>C
c.1043-1725G>C
c.1011G>C (p.Gln337His)
n.273-1725G>C
n.910-1725G>C
c.2619-1725G>C (n.2619-1725G>C)
c.2418G>C (p.Gln806His)
n.3834-1725G>C
c.2655-1725G>C (n.2655-1725G>C)
c.2625G>C (p.Gln875His)
c.2757G>C (p.Gln919His)
c.2586G>C (p.Gln862His)
c.2454G>C (p.Gln818His)
c.2238G>C (p.Gln746His)
 gnomAD v4
2g.1540696G>TCA345696215TPOc.2721G>T (p.Gln907His)
c.2589G>T (p.Gln863His)
c.2202G>T (p.Gln734His)
c.2550G>T (p.Gln850His)
c.2376G>T (p.Gln792His)
n.384G>T
c.1043-1725G>T
c.1011G>T (p.Gln337His)
n.273-1725G>T
n.910-1725G>T
c.2619-1725G>T (n.2619-1725G>T)
c.2418G>T (p.Gln806His)
n.3834-1725G>T
c.2655-1725G>T (n.2655-1725G>T)
c.2625G>T (p.Gln875His)
c.2757G>T (p.Gln919His)
c.2586G>T (p.Gln862His)
c.2454G>T (p.Gln818His)
c.2238G>T (p.Gln746His)
2g.1540697C>ACA424757195TPOc.2722C>A (p.Arg908=)
c.2590C>A (p.Arg864=)
c.2203C>A (p.Arg735=)
c.2551C>A (p.Arg851=)
c.2377C>A (p.Arg793=)
n.385C>A
c.1043-1724C>A
c.1012C>A (p.Arg338=)
n.273-1724C>A
n.910-1724C>A
c.2619-1724C>A (n.2619-1724C>A)
c.2419C>A (p.Arg807=)
n.3834-1724C>A
c.2655-1724C>A (n.2655-1724C>A)
c.2626C>A (p.Arg876=)
c.2758C>A (p.Arg920=)
c.2587C>A (p.Arg863=)
c.2455C>A (p.Arg819=)
c.2239C>A (p.Arg747=)
2g.1540697C=CA1233609892TPOc.2722C= (p.Arg908=)
c.2590C= (p.Arg864=)
c.2203C= (p.Arg735=)
c.2551C= (p.Arg851=)
c.2377C= (p.Arg793=)
n.385C=
c.1043-1724C=
c.1012C= (p.Arg338=)
n.273-1724C=
n.910-1724C=
c.2619-1724C= (n.2619-1724C=)
c.2419C= (p.Arg807=)
n.3834-1724C=
c.2655-1724C= (n.2655-1724C=)
c.2626C= (p.Arg876=)
c.2758C= (p.Arg920=)
c.2587C= (p.Arg863=)
c.2455C= (p.Arg819=)
c.2239C= (p.Arg747=)
2g.1540697C>GCA345696216TPOc.2722C>G (p.Arg908Gly)
c.2590C>G (p.Arg864Gly)
c.2203C>G (p.Arg735Gly)
c.2551C>G (p.Arg851Gly)
c.2377C>G (p.Arg793Gly)
n.385C>G
c.1043-1724C>G
c.1012C>G (p.Arg338Gly)
n.273-1724C>G
n.910-1724C>G
c.2619-1724C>G (n.2619-1724C>G)
c.2419C>G (p.Arg807Gly)
n.3834-1724C>G
c.2655-1724C>G (n.2655-1724C>G)
c.2626C>G (p.Arg876Gly)
c.2758C>G (p.Arg920Gly)
c.2587C>G (p.Arg863Gly)
c.2455C>G (p.Arg819Gly)
c.2239C>G (p.Arg747Gly)
2g.1540697C>TCA1512261TPOc.2722C>T (p.Arg908Trp)
c.2590C>T (p.Arg864Trp)
c.2203C>T (p.Arg735Trp)
c.2551C>T (p.Arg851Trp)
c.2377C>T (p.Arg793Trp)
n.385C>T
c.1043-1724C>T
c.1012C>T (p.Arg338Trp)
n.273-1724C>T
n.910-1724C>T
c.2619-1724C>T (n.2619-1724C>T)
c.2419C>T (p.Arg807Trp)
n.3834-1724C>T
c.2655-1724C>T (n.2655-1724C>T)
c.2626C>T (p.Arg876Trp)
c.2758C>T (p.Arg920Trp)
c.2587C>T (p.Arg863Trp)
c.2455C>T (p.Arg819Trp)
c.2239C>T (p.Arg747Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.1540698G>ACA1512262TPOc.2723G>A (p.Arg908Gln)
c.2591G>A (p.Arg864Gln)
c.2204G>A (p.Arg735Gln)
c.2552G>A (p.Arg851Gln)
c.2378G>A (p.Arg793Gln)
n.386G>A
c.1043-1723G>A
c.1013G>A (p.Arg338Gln)
n.273-1723G>A
n.910-1723G>A
c.2619-1723G>A (n.2619-1723G>A)
c.2420G>A (p.Arg807Gln)
n.3834-1723G>A
c.2655-1723G>A (n.2655-1723G>A)
c.2627G>A (p.Arg876Gln)
c.2759G>A (p.Arg920Gln)
c.2588G>A (p.Arg863Gln)
c.2456G>A (p.Arg819Gln)
c.2240G>A (p.Arg747Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540698G>CCA345696217TPOc.2723G>C (p.Arg908Pro)
c.2591G>C (p.Arg864Pro)
c.2204G>C (p.Arg735Pro)
c.2552G>C (p.Arg851Pro)
c.2378G>C (p.Arg793Pro)
n.386G>C
c.1043-1723G>C
c.1013G>C (p.Arg338Pro)
n.273-1723G>C
n.910-1723G>C
c.2619-1723G>C (n.2619-1723G>C)
c.2420G>C (p.Arg807Pro)
n.3834-1723G>C
c.2655-1723G>C (n.2655-1723G>C)
c.2627G>C (p.Arg876Pro)
c.2759G>C (p.Arg920Pro)
c.2588G>C (p.Arg863Pro)
c.2456G>C (p.Arg819Pro)
c.2240G>C (p.Arg747Pro)
2g.1540698G=CA1233609893TPOc.2723G= (p.Arg908=)
c.2591G= (p.Arg864=)
c.2204G= (p.Arg735=)
c.2552G= (p.Arg851=)
c.2378G= (p.Arg793=)
n.386G=
c.1043-1723G=
c.1013G= (p.Arg338=)
n.273-1723G=
n.910-1723G=
c.2619-1723G= (n.2619-1723G=)
c.2420G= (p.Arg807=)
n.3834-1723G=
c.2655-1723G= (n.2655-1723G=)
c.2627G= (p.Arg876=)
c.2759G= (p.Arg920=)
c.2588G= (p.Arg863=)
c.2456G= (p.Arg819=)
c.2240G= (p.Arg747=)
2g.1540698G>TCA345696218TPOc.2723G>T (p.Arg908Leu)
c.2591G>T (p.Arg864Leu)
c.2204G>T (p.Arg735Leu)
c.2552G>T (p.Arg851Leu)
c.2378G>T (p.Arg793Leu)
n.386G>T
c.1043-1723G>T
c.1013G>T (p.Arg338Leu)
n.273-1723G>T
n.910-1723G>T
c.2619-1723G>T (n.2619-1723G>T)
c.2420G>T (p.Arg807Leu)
n.3834-1723G>T
c.2655-1723G>T (n.2655-1723G>T)
c.2627G>T (p.Arg876Leu)
c.2759G>T (p.Arg920Leu)
c.2588G>T (p.Arg863Leu)
c.2456G>T (p.Arg819Leu)
c.2240G>T (p.Arg747Leu)
2g.1540700_1540767delCA2657648021TPOc.2725_2748+44del
c.2593_2616+44del
c.2206_2229+44del
c.2554_2577+44del
c.2380_2447del (p.Ala794LeufsTer?)
n.388_411+44del
c.1043-1721_1043-1654del
c.1015_1038+44del
n.273-1721_273-1654del
n.910-1721_910-1654del
c.2593_2660del (p.Ala865LeufsTer?)
c.2619-1721_2619-1654del (n.2619-1721_2619-1654del)
c.2422_2445+44del
n.3834-1721_3834-1654del
c.2655-1721_2655-1654del (n.2655-1721_2655-1654del)
c.2629_2696del (p.Ala877LeufsTer?)
c.2761_2784+44del
c.2629_2652+44del
c.2590_2613+44del
c.2458_2481+44del
c.2242_2265+44del
 gnomAD v4
2g.1540699G>ACA424757200TPOc.2724G>A (p.Arg908=)
c.2592G>A (p.Arg864=)
c.2205G>A (p.Arg735=)
c.2553G>A (p.Arg851=)
c.2379G>A (p.Arg793=)
n.387G>A
c.1043-1722G>A
c.1014G>A (p.Arg338=)
n.273-1722G>A
n.910-1722G>A
c.2619-1722G>A (n.2619-1722G>A)
c.2421G>A (p.Arg807=)
n.3834-1722G>A
c.2655-1722G>A (n.2655-1722G>A)
c.2628G>A (p.Arg876=)
c.2760G>A (p.Arg920=)
c.2589G>A (p.Arg863=)
c.2457G>A (p.Arg819=)
c.2241G>A (p.Arg747=)
 gnomAD v4
2g.1540699G>CCA424757202TPOc.2724G>C (p.Arg908=)
c.2592G>C (p.Arg864=)
c.2205G>C (p.Arg735=)
c.2553G>C (p.Arg851=)
c.2379G>C (p.Arg793=)
n.387G>C
c.1043-1722G>C
c.1014G>C (p.Arg338=)
n.273-1722G>C
n.910-1722G>C
c.2619-1722G>C (n.2619-1722G>C)
c.2421G>C (p.Arg807=)
n.3834-1722G>C
c.2655-1722G>C (n.2655-1722G>C)
c.2628G>C (p.Arg876=)
c.2760G>C (p.Arg920=)
c.2589G>C (p.Arg863=)
c.2457G>C (p.Arg819=)
c.2241G>C (p.Arg747=)
2g.1540699G>TCA424757201TPOc.2724G>T (p.Arg908=)
c.2592G>T (p.Arg864=)
c.2205G>T (p.Arg735=)
c.2553G>T (p.Arg851=)
c.2379G>T (p.Arg793=)
n.387G>T
c.1043-1722G>T
c.1014G>T (p.Arg338=)
n.273-1722G>T
n.910-1722G>T
c.2619-1722G>T (n.2619-1722G>T)
c.2421G>T (p.Arg807=)
n.3834-1722G>T
c.2655-1722G>T (n.2655-1722G>T)
c.2628G>T (p.Arg876=)
c.2760G>T (p.Arg920=)
c.2589G>T (p.Arg863=)
c.2457G>T (p.Arg819=)
c.2241G>T (p.Arg747=)
2g.1540700G>ACA41406412TPOc.2725G>A (p.Ala909Thr)
c.2593G>A (p.Ala865Thr)
c.2206G>A (p.Ala736Thr)
c.2554G>A (p.Ala852Thr)
c.2380G>A (p.Ala794Thr)
n.388G>A
c.1043-1721G>A
c.1015G>A (p.Ala339Thr)
n.273-1721G>A
n.910-1721G>A
c.2619-1721G>A (n.2619-1721G>A)
c.2422G>A (p.Ala808Thr)
n.3834-1721G>A
c.2655-1721G>A (n.2655-1721G>A)
c.2629G>A (p.Ala877Thr)
c.2761G>A (p.Ala921Thr)
c.2590G>A (p.Ala864Thr)
c.2458G>A (p.Ala820Thr)
c.2242G>A (p.Ala748Thr)
 dbSNP gnomAD v4
2g.1540700G>CCA345696220TPOc.2725G>C (p.Ala909Pro)
c.2593G>C (p.Ala865Pro)
c.2206G>C (p.Ala736Pro)
c.2554G>C (p.Ala852Pro)
c.2380G>C (p.Ala794Pro)
n.388G>C
c.1043-1721G>C
c.1015G>C (p.Ala339Pro)
n.273-1721G>C
n.910-1721G>C
c.2619-1721G>C (n.2619-1721G>C)
c.2422G>C (p.Ala808Pro)
n.3834-1721G>C
c.2655-1721G>C (n.2655-1721G>C)
c.2629G>C (p.Ala877Pro)
c.2761G>C (p.Ala921Pro)
c.2590G>C (p.Ala864Pro)
c.2458G>C (p.Ala820Pro)
c.2242G>C (p.Ala748Pro)
2g.1540700G=CA1233609894TPOc.2725G= (p.Ala909=)
c.2593G= (p.Ala865=)
c.2206G= (p.Ala736=)
c.2554G= (p.Ala852=)
c.2380G= (p.Ala794=)
n.388G=
c.1043-1721G=
c.1015G= (p.Ala339=)
n.273-1721G=
n.910-1721G=
c.2619-1721G= (n.2619-1721G=)
c.2422G= (p.Ala808=)
n.3834-1721G=
c.2655-1721G= (n.2655-1721G=)
c.2629G= (p.Ala877=)
c.2761G= (p.Ala921=)
c.2590G= (p.Ala864=)
c.2458G= (p.Ala820=)
c.2242G= (p.Ala748=)
2g.1540700G>TCA345696219TPOc.2725G>T (p.Ala909Ser)
c.2593G>T (p.Ala865Ser)
c.2206G>T (p.Ala736Ser)
c.2554G>T (p.Ala852Ser)
c.2380G>T (p.Ala794Ser)
n.388G>T
c.1043-1721G>T
c.1015G>T (p.Ala339Ser)
n.273-1721G>T
n.910-1721G>T
c.2619-1721G>T (n.2619-1721G>T)
c.2422G>T (p.Ala808Ser)
n.3834-1721G>T
c.2655-1721G>T (n.2655-1721G>T)
c.2629G>T (p.Ala877Ser)
c.2761G>T (p.Ala921Ser)
c.2590G>T (p.Ala864Ser)
c.2458G>T (p.Ala820Ser)
c.2242G>T (p.Ala748Ser)
2g.1540701C>ACA345696222TPOc.2726C>A (p.Ala909Asp)
c.2594C>A (p.Ala865Asp)
c.2207C>A (p.Ala736Asp)
c.2555C>A (p.Ala852Asp)
c.2381C>A (p.Ala794Asp)
n.389C>A
c.1043-1720C>A
c.1016C>A (p.Ala339Asp)
n.273-1720C>A
n.910-1720C>A
c.2619-1720C>A (n.2619-1720C>A)
c.2423C>A (p.Ala808Asp)
n.3834-1720C>A
c.2655-1720C>A (n.2655-1720C>A)
c.2630C>A (p.Ala877Asp)
c.2762C>A (p.Ala921Asp)
c.2591C>A (p.Ala864Asp)
c.2459C>A (p.Ala820Asp)
c.2243C>A (p.Ala748Asp)
2g.1540701C>GCA345696221TPOc.2726C>G (p.Ala909Gly)
c.2594C>G (p.Ala865Gly)
c.2207C>G (p.Ala736Gly)
c.2555C>G (p.Ala852Gly)
c.2381C>G (p.Ala794Gly)
n.389C>G
c.1043-1720C>G
c.1016C>G (p.Ala339Gly)
n.273-1720C>G
n.910-1720C>G
c.2619-1720C>G (n.2619-1720C>G)
c.2423C>G (p.Ala808Gly)
n.3834-1720C>G
c.2655-1720C>G (n.2655-1720C>G)
c.2630C>G (p.Ala877Gly)
c.2762C>G (p.Ala921Gly)
c.2591C>G (p.Ala864Gly)
c.2459C>G (p.Ala820Gly)
c.2243C>G (p.Ala748Gly)
2g.1540701C>TCA345696223TPOc.2726C>T (p.Ala909Val)
c.2594C>T (p.Ala865Val)
c.2207C>T (p.Ala736Val)
c.2555C>T (p.Ala852Val)
c.2381C>T (p.Ala794Val)
n.389C>T
c.1043-1720C>T
c.1016C>T (p.Ala339Val)
n.273-1720C>T
n.910-1720C>T
c.2619-1720C>T (n.2619-1720C>T)
c.2423C>T (p.Ala808Val)
n.3834-1720C>T
c.2655-1720C>T (n.2655-1720C>T)
c.2630C>T (p.Ala877Val)
c.2762C>T (p.Ala921Val)
c.2591C>T (p.Ala864Val)
c.2459C>T (p.Ala820Val)
c.2243C>T (p.Ala748Val)
 gnomAD v4
2g.1540702dupCA1233609895TPOc.2727dup (p.Ala910ArgfsTer?)
c.2595dup (p.Ala866ArgfsTer?)
c.2208dup (p.Ala737ArgfsTer?)
c.2556dup (p.Ala853ArgfsTer?)
c.2382dup (p.Ala795ArgfsTer?)
n.390dup
c.1043-1719dup
c.1017dup (p.Ala340ArgfsTer?)
n.273-1719dup
n.910-1719dup
c.2619-1719dup (n.2619-1719dup)
c.2424dup (p.Ala809ArgfsTer?)
n.3834-1719dup
c.2655-1719dup (n.2655-1719dup)
c.2631dup (p.Ala878ArgfsTer?)
c.2763dup (p.Ala922ArgfsTer?)
c.2592dup (p.Ala865ArgfsTer?)
c.2460dup (p.Ala821ArgfsTer?)
c.2244dup (p.Ala749ArgfsTer?)
 dbSNP gnomAD v4
2g.1540702C>ACA424757207TPOc.2727C>A (p.Ala909=)
c.2595C>A (p.Ala865=)
c.2208C>A (p.Ala736=)
c.2556C>A (p.Ala852=)
c.2382C>A (p.Ala794=)
n.390C>A
c.1043-1719C>A
c.1017C>A (p.Ala339=)
n.273-1719C>A
n.910-1719C>A
c.2619-1719C>A (n.2619-1719C>A)
c.2424C>A (p.Ala808=)
n.3834-1719C>A
c.2655-1719C>A (n.2655-1719C>A)
c.2631C>A (p.Ala877=)
c.2763C>A (p.Ala921=)
c.2592C>A (p.Ala864=)
c.2460C>A (p.Ala820=)
c.2244C>A (p.Ala748=)
2g.1540702C=CA1233609896TPOc.2727C= (p.Ala909=)
c.2595C= (p.Ala865=)
c.2208C= (p.Ala736=)
c.2556C= (p.Ala852=)
c.2382C= (p.Ala794=)
n.390C=
c.1043-1719C=
c.1017C= (p.Ala339=)
n.273-1719C=
n.910-1719C=
c.2619-1719C= (n.2619-1719C=)
c.2424C= (p.Ala808=)
n.3834-1719C=
c.2655-1719C= (n.2655-1719C=)
c.2631C= (p.Ala877=)
c.2763C= (p.Ala921=)
c.2592C= (p.Ala864=)
c.2460C= (p.Ala820=)
c.2244C= (p.Ala748=)
2g.1540702C>GCA424757208TPOc.2727C>G (p.Ala909=)
c.2595C>G (p.Ala865=)
c.2208C>G (p.Ala736=)
c.2556C>G (p.Ala852=)
c.2382C>G (p.Ala794=)
n.390C>G
c.1043-1719C>G
c.1017C>G (p.Ala339=)
n.273-1719C>G
n.910-1719C>G
c.2619-1719C>G (n.2619-1719C>G)
c.2424C>G (p.Ala808=)
n.3834-1719C>G
c.2655-1719C>G (n.2655-1719C>G)
c.2631C>G (p.Ala877=)
c.2763C>G (p.Ala921=)
c.2592C>G (p.Ala864=)
c.2460C>G (p.Ala820=)
c.2244C>G (p.Ala748=)
2g.1540702C>TCA1512263TPOc.2727C>T (p.Ala909=)
c.2595C>T (p.Ala865=)
c.2208C>T (p.Ala736=)
c.2556C>T (p.Ala852=)
c.2382C>T (p.Ala794=)
n.390C>T
c.1043-1719C>T
c.1017C>T (p.Ala339=)
n.273-1719C>T
n.910-1719C>T
c.2619-1719C>T (n.2619-1719C>T)
c.2424C>T (p.Ala808=)
n.3834-1719C>T
c.2655-1719C>T (n.2655-1719C>T)
c.2631C>T (p.Ala877=)
c.2763C>T (p.Ala921=)
c.2592C>T (p.Ala864=)
c.2460C>T (p.Ala820=)
c.2244C>T (p.Ala748=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540703G>ACA1512264TPOc.2728G>A (p.Ala910Thr)
c.2596G>A (p.Ala866Thr)
c.2209G>A (p.Ala737Thr)
c.2557G>A (p.Ala853Thr)
c.2383G>A (p.Ala795Thr)
n.391G>A
c.1043-1718G>A
c.1018G>A (p.Ala340Thr)
n.273-1718G>A
n.910-1718G>A
c.2619-1718G>A (n.2619-1718G>A)
c.2425G>A (p.Ala809Thr)
n.3834-1718G>A
c.2655-1718G>A (n.2655-1718G>A)
c.2632G>A (p.Ala878Thr)
c.2764G>A (p.Ala922Thr)
c.2593G>A (p.Ala865Thr)
c.2461G>A (p.Ala821Thr)
c.2245G>A (p.Ala749Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
2g.1540703G>CCA345696224TPOc.2728G>C (p.Ala910Pro)
c.2596G>C (p.Ala866Pro)
c.2209G>C (p.Ala737Pro)
c.2557G>C (p.Ala853Pro)
c.2383G>C (p.Ala795Pro)
n.391G>C
c.1043-1718G>C
c.1018G>C (p.Ala340Pro)
n.273-1718G>C
n.910-1718G>C
c.2619-1718G>C (n.2619-1718G>C)
c.2425G>C (p.Ala809Pro)
n.3834-1718G>C
c.2655-1718G>C (n.2655-1718G>C)
c.2632G>C (p.Ala878Pro)
c.2764G>C (p.Ala922Pro)
c.2593G>C (p.Ala865Pro)
c.2461G>C (p.Ala821Pro)
c.2245G>C (p.Ala749Pro)
2g.1540703G=CA1233609897TPOc.2728G= (p.Ala910=)
c.2596G= (p.Ala866=)
c.2209G= (p.Ala737=)
c.2557G= (p.Ala853=)
c.2383G= (p.Ala795=)
n.391G=
c.1043-1718G=
c.1018G= (p.Ala340=)
n.273-1718G=
n.910-1718G=
c.2619-1718G= (n.2619-1718G=)
c.2425G= (p.Ala809=)
n.3834-1718G=
c.2655-1718G= (n.2655-1718G=)
c.2632G= (p.Ala878=)
c.2764G= (p.Ala922=)
c.2593G= (p.Ala865=)
c.2461G= (p.Ala821=)
c.2245G= (p.Ala749=)
2g.1540703G>TCA345696225TPOc.2728G>T (p.Ala910Ser)
c.2596G>T (p.Ala866Ser)
c.2209G>T (p.Ala737Ser)
c.2557G>T (p.Ala853Ser)
c.2383G>T (p.Ala795Ser)
n.391G>T
c.1043-1718G>T
c.1018G>T (p.Ala340Ser)
n.273-1718G>T
n.910-1718G>T
c.2619-1718G>T (n.2619-1718G>T)
c.2425G>T (p.Ala809Ser)
n.3834-1718G>T
c.2655-1718G>T (n.2655-1718G>T)
c.2632G>T (p.Ala878Ser)
c.2764G>T (p.Ala922Ser)
c.2593G>T (p.Ala865Ser)
c.2461G>T (p.Ala821Ser)
c.2245G>T (p.Ala749Ser)
2g.1540704C>ACA345696226TPOc.2729C>A (p.Ala910Glu)
c.2597C>A (p.Ala866Glu)
c.2210C>A (p.Ala737Glu)
c.2558C>A (p.Ala853Glu)
c.2384C>A (p.Ala795Glu)
n.392C>A
c.1043-1717C>A
c.1019C>A (p.Ala340Glu)
n.273-1717C>A
n.910-1717C>A
c.2619-1717C>A (n.2619-1717C>A)
c.2426C>A (p.Ala809Glu)
n.3834-1717C>A
c.2655-1717C>A (n.2655-1717C>A)
c.2633C>A (p.Ala878Glu)
c.2765C>A (p.Ala922Glu)
c.2594C>A (p.Ala865Glu)
c.2462C>A (p.Ala821Glu)
c.2246C>A (p.Ala749Glu)
2g.1540704C=CA1233609898TPOc.2729C= (p.Ala910=)
c.2597C= (p.Ala866=)
c.2210C= (p.Ala737=)
c.2558C= (p.Ala853=)
c.2384C= (p.Ala795=)
n.392C=
c.1043-1717C=
c.1019C= (p.Ala340=)
n.273-1717C=
n.910-1717C=
c.2619-1717C= (n.2619-1717C=)
c.2426C= (p.Ala809=)
n.3834-1717C=
c.2655-1717C= (n.2655-1717C=)
c.2633C= (p.Ala878=)
c.2765C= (p.Ala922=)
c.2594C= (p.Ala865=)
c.2462C= (p.Ala821=)
c.2246C= (p.Ala749=)
2g.1540704C>GCA345696227TPOc.2729C>G (p.Ala910Gly)
c.2597C>G (p.Ala866Gly)
c.2210C>G (p.Ala737Gly)
c.2558C>G (p.Ala853Gly)
c.2384C>G (p.Ala795Gly)
n.392C>G
c.1043-1717C>G
c.1019C>G (p.Ala340Gly)
n.273-1717C>G
n.910-1717C>G
c.2619-1717C>G (n.2619-1717C>G)
c.2426C>G (p.Ala809Gly)
n.3834-1717C>G
c.2655-1717C>G (n.2655-1717C>G)
c.2633C>G (p.Ala878Gly)
c.2765C>G (p.Ala922Gly)
c.2594C>G (p.Ala865Gly)
c.2462C>G (p.Ala821Gly)
c.2246C>G (p.Ala749Gly)
2g.1540704C>TCA345696228TPOc.2729C>T (p.Ala910Val)
c.2597C>T (p.Ala866Val)
c.2210C>T (p.Ala737Val)
c.2558C>T (p.Ala853Val)
c.2384C>T (p.Ala795Val)
n.392C>T
c.1043-1717C>T
c.1019C>T (p.Ala340Val)
n.273-1717C>T
n.910-1717C>T
c.2619-1717C>T (n.2619-1717C>T)
c.2426C>T (p.Ala809Val)
n.3834-1717C>T
c.2655-1717C>T (n.2655-1717C>T)
c.2633C>T (p.Ala878Val)
c.2765C>T (p.Ala922Val)
c.2594C>T (p.Ala865Val)
c.2462C>T (p.Ala821Val)
c.2246C>T (p.Ala749Val)
2g.1540705A=CA1233609900TPOc.2730A= (p.Ala910=)
c.2598A= (p.Ala866=)
c.2211A= (p.Ala737=)
c.2559A= (p.Ala853=)
c.2385A= (p.Ala795=)
n.393A=
c.1043-1716A=
c.1020A= (p.Ala340=)
n.273-1716A=
n.910-1716A=
c.2619-1716A= (n.2619-1716A=)
c.2427A= (p.Ala809=)
n.3834-1716A=
c.2655-1716A= (n.2655-1716A=)
c.2634A= (p.Ala878=)
c.2766A= (p.Ala922=)
c.2595A= (p.Ala865=)
c.2463A= (p.Ala821=)
c.2247A= (p.Ala749=)
2g.1540705A>CCA1512265TPOc.2730A>C (p.Ala910=)
c.2598A>C (p.Ala866=)
c.2211A>C (p.Ala737=)
c.2559A>C (p.Ala853=)
c.2385A>C (p.Ala795=)
n.393A>C
c.1043-1716A>C
c.1020A>C (p.Ala340=)
n.273-1716A>C
n.910-1716A>C
c.2619-1716A>C (n.2619-1716A>C)
c.2427A>C (p.Ala809=)
n.3834-1716A>C
c.2655-1716A>C (n.2655-1716A>C)
c.2634A>C (p.Ala878=)
c.2766A>C (p.Ala922=)
c.2595A>C (p.Ala865=)
c.2463A>C (p.Ala821=)
c.2247A>C (p.Ala749=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540705A>GCA424757217TPOc.2730A>G (p.Ala910=)
c.2598A>G (p.Ala866=)
c.2211A>G (p.Ala737=)
c.2559A>G (p.Ala853=)
c.2385A>G (p.Ala795=)
n.393A>G
c.1043-1716A>G
c.1020A>G (p.Ala340=)
n.273-1716A>G
n.910-1716A>G
c.2619-1716A>G (n.2619-1716A>G)
c.2427A>G (p.Ala809=)
n.3834-1716A>G
c.2655-1716A>G (n.2655-1716A>G)
c.2634A>G (p.Ala878=)
c.2766A>G (p.Ala922=)
c.2595A>G (p.Ala865=)
c.2463A>G (p.Ala821=)
c.2247A>G (p.Ala749=)
 gnomAD v4
2g.1540705A>TCA424757219TPOc.2730A>T (p.Ala910=)
c.2598A>T (p.Ala866=)
c.2211A>T (p.Ala737=)
c.2559A>T (p.Ala853=)
c.2385A>T (p.Ala795=)
n.393A>T
c.1043-1716A>T
c.1020A>T (p.Ala340=)
n.273-1716A>T
n.910-1716A>T
c.2619-1716A>T (n.2619-1716A>T)
c.2427A>T (p.Ala809=)
n.3834-1716A>T
c.2655-1716A>T (n.2655-1716A>T)
c.2634A>T (p.Ala878=)
c.2766A>T (p.Ala922=)
c.2595A>T (p.Ala865=)
c.2463A>T (p.Ala821=)
c.2247A>T (p.Ala749=)
2g.1540705_1540723dupCA1233609899TPOc.2730_2748dup (p.Glu917SerfsTer?)
c.2598_2616dup (p.Glu873SerfsTer?)
c.2211_2229dup (p.Glu744SerfsTer?)
c.2559_2577dup (p.Glu860SerfsTer?)
c.2385_2403dup (p.Val802SerfsTer?)
n.393_411dup
c.1043-1716_1043-1698dup
c.1020_1038dup (p.Glu347SerfsTer?)
n.273-1716_273-1698dup
n.910-1716_910-1698dup
c.2598_2616dup (p.Val873SerfsTer?)
c.2619-1716_2619-1698dup (n.2619-1716_2619-1698dup)
c.2427_2445dup (p.Glu816SerfsTer?)
n.3834-1716_3834-1698dup
c.2655-1716_2655-1698dup (n.2655-1716_2655-1698dup)
c.2634_2652dup (p.Val885SerfsTer?)
c.2766_2784dup (p.Glu929SerfsTer?)
c.2634_2652dup (p.Glu885SerfsTer?)
c.2595_2613dup (p.Glu872SerfsTer?)
c.2463_2481dup (p.Glu828SerfsTer?)
c.2247_2265dup (p.Glu756SerfsTer?)
 dbSNP gnomAD v4
2g.1540706G>ACA345696229TPOc.2731G>A (p.Ala911Thr)
c.2599G>A (p.Ala867Thr)
c.2212G>A (p.Ala738Thr)
c.2560G>A (p.Ala854Thr)
c.2386G>A (p.Ala796Thr)
n.394G>A
c.1043-1715G>A
c.1021G>A (p.Ala341Thr)
n.273-1715G>A
n.910-1715G>A
c.2619-1715G>A (n.2619-1715G>A)
c.2428G>A (p.Ala810Thr)
n.3834-1715G>A
c.2655-1715G>A (n.2655-1715G>A)
c.2635G>A (p.Ala879Thr)
c.2767G>A (p.Ala923Thr)
c.2596G>A (p.Ala866Thr)
c.2464G>A (p.Ala822Thr)
c.2248G>A (p.Ala750Thr)
 gnomAD v4
2g.1540706G>CCA345696230TPOc.2731G>C (p.Ala911Pro)
c.2599G>C (p.Ala867Pro)
c.2212G>C (p.Ala738Pro)
c.2560G>C (p.Ala854Pro)
c.2386G>C (p.Ala796Pro)
n.394G>C
c.1043-1715G>C
c.1021G>C (p.Ala341Pro)
n.273-1715G>C
n.910-1715G>C
c.2619-1715G>C (n.2619-1715G>C)
c.2428G>C (p.Ala810Pro)
n.3834-1715G>C
c.2655-1715G>C (n.2655-1715G>C)
c.2635G>C (p.Ala879Pro)
c.2767G>C (p.Ala923Pro)
c.2596G>C (p.Ala866Pro)
c.2464G>C (p.Ala822Pro)
c.2248G>C (p.Ala750Pro)
2g.1540706G>TCA345696231TPOc.2731G>T (p.Ala911Ser)
c.2599G>T (p.Ala867Ser)
c.2212G>T (p.Ala738Ser)
c.2560G>T (p.Ala854Ser)
c.2386G>T (p.Ala796Ser)
n.394G>T
c.1043-1715G>T
c.1021G>T (p.Ala341Ser)
n.273-1715G>T
n.910-1715G>T
c.2619-1715G>T (n.2619-1715G>T)
c.2428G>T (p.Ala810Ser)
n.3834-1715G>T
c.2655-1715G>T (n.2655-1715G>T)
c.2635G>T (p.Ala879Ser)
c.2767G>T (p.Ala923Ser)
c.2596G>T (p.Ala866Ser)
c.2464G>T (p.Ala822Ser)
c.2248G>T (p.Ala750Ser)
 gnomAD v4 COSMIC
2g.1540707C>ACA345696232TPOc.2732C>A (p.Ala911Asp)
c.2600C>A (p.Ala867Asp)
c.2213C>A (p.Ala738Asp)
c.2561C>A (p.Ala854Asp)
c.2387C>A (p.Ala796Asp)
n.395C>A
c.1043-1714C>A
c.1022C>A (p.Ala341Asp)
n.273-1714C>A
n.910-1714C>A
c.2619-1714C>A (n.2619-1714C>A)
c.2429C>A (p.Ala810Asp)
n.3834-1714C>A
c.2655-1714C>A (n.2655-1714C>A)
c.2636C>A (p.Ala879Asp)
c.2768C>A (p.Ala923Asp)
c.2597C>A (p.Ala866Asp)
c.2465C>A (p.Ala822Asp)
c.2249C>A (p.Ala750Asp)
2g.1540707C>GCA345696233TPOc.2732C>G (p.Ala911Gly)
c.2600C>G (p.Ala867Gly)
c.2213C>G (p.Ala738Gly)
c.2561C>G (p.Ala854Gly)
c.2387C>G (p.Ala796Gly)
n.395C>G
c.1043-1714C>G
c.1022C>G (p.Ala341Gly)
n.273-1714C>G
n.910-1714C>G
c.2619-1714C>G (n.2619-1714C>G)
c.2429C>G (p.Ala810Gly)
n.3834-1714C>G
c.2655-1714C>G (n.2655-1714C>G)
c.2636C>G (p.Ala879Gly)
c.2768C>G (p.Ala923Gly)
c.2597C>G (p.Ala866Gly)
c.2465C>G (p.Ala822Gly)
c.2249C>G (p.Ala750Gly)
2g.1540707C>TCA345696234TPOc.2732C>T (p.Ala911Val)
c.2600C>T (p.Ala867Val)
c.2213C>T (p.Ala738Val)
c.2561C>T (p.Ala854Val)
c.2387C>T (p.Ala796Val)
n.395C>T
c.1043-1714C>T
c.1022C>T (p.Ala341Val)
n.273-1714C>T
n.910-1714C>T
c.2619-1714C>T (n.2619-1714C>T)
c.2429C>T (p.Ala810Val)
n.3834-1714C>T
c.2655-1714C>T (n.2655-1714C>T)
c.2636C>T (p.Ala879Val)
c.2768C>T (p.Ala923Val)
c.2597C>T (p.Ala866Val)
c.2465C>T (p.Ala822Val)
c.2249C>T (p.Ala750Val)
2g.1540708T>ACA424757226TPOc.2733T>A (p.Ala911=)
c.2601T>A (p.Ala867=)
c.2214T>A (p.Ala738=)
c.2562T>A (p.Ala854=)
c.2388T>A (p.Ala796=)
n.396T>A
c.1043-1713T>A
c.1023T>A (p.Ala341=)
n.273-1713T>A
n.910-1713T>A
c.2619-1713T>A (n.2619-1713T>A)
c.2430T>A (p.Ala810=)
n.3834-1713T>A
c.2655-1713T>A (n.2655-1713T>A)
c.2637T>A (p.Ala879=)
c.2769T>A (p.Ala923=)
c.2598T>A (p.Ala866=)
c.2466T>A (p.Ala822=)
c.2250T>A (p.Ala750=)
2g.1540708T>CCA424757228TPOc.2733T>C (p.Ala911=)
c.2601T>C (p.Ala867=)
c.2214T>C (p.Ala738=)
c.2562T>C (p.Ala854=)
c.2388T>C (p.Ala796=)
n.396T>C
c.1043-1713T>C
c.1023T>C (p.Ala341=)
n.273-1713T>C
n.910-1713T>C
c.2619-1713T>C (n.2619-1713T>C)
c.2430T>C (p.Ala810=)
n.3834-1713T>C
c.2655-1713T>C (n.2655-1713T>C)
c.2637T>C (p.Ala879=)
c.2769T>C (p.Ala923=)
c.2598T>C (p.Ala866=)
c.2466T>C (p.Ala822=)
c.2250T>C (p.Ala750=)
2g.1540708T>GCA424757230TPOc.2733T>G (p.Ala911=)
c.2601T>G (p.Ala867=)
c.2214T>G (p.Ala738=)
c.2562T>G (p.Ala854=)
c.2388T>G (p.Ala796=)
n.396T>G
c.1043-1713T>G
c.1023T>G (p.Ala341=)
n.273-1713T>G
n.910-1713T>G
c.2619-1713T>G (n.2619-1713T>G)
c.2430T>G (p.Ala810=)
n.3834-1713T>G
c.2655-1713T>G (n.2655-1713T>G)
c.2637T>G (p.Ala879=)
c.2769T>G (p.Ala923=)
c.2598T>G (p.Ala866=)
c.2466T>G (p.Ala822=)
c.2250T>G (p.Ala750=)
2g.1540709C>ACA345696235TPOc.2734C>A (p.Gln912Lys)
c.2602C>A (p.Gln868Lys)
c.2215C>A (p.Gln739Lys)
c.2563C>A (p.Gln855Lys)
c.2389C>A (p.Gln797Lys)
n.397C>A
c.1043-1712C>A
c.1024C>A (p.Gln342Lys)
n.273-1712C>A
n.910-1712C>A
c.2619-1712C>A (n.2619-1712C>A)
c.2431C>A (p.Gln811Lys)
n.3834-1712C>A
c.2655-1712C>A (n.2655-1712C>A)
c.2638C>A (p.Gln880Lys)
c.2770C>A (p.Gln924Lys)
c.2599C>A (p.Gln867Lys)
c.2467C>A (p.Gln823Lys)
c.2251C>A (p.Gln751Lys)
 dbSNP gnomAD v2
2g.1540709C=CA1233609901TPOc.2734C= (p.Gln912=)
c.2602C= (p.Gln868=)
c.2215C= (p.Gln739=)
c.2563C= (p.Gln855=)
c.2389C= (p.Gln797=)
n.397C=
c.1043-1712C=
c.1024C= (p.Gln342=)
n.273-1712C=
n.910-1712C=
c.2619-1712C= (n.2619-1712C=)
c.2431C= (p.Gln811=)
n.3834-1712C=
c.2655-1712C= (n.2655-1712C=)
c.2638C= (p.Gln880=)
c.2770C= (p.Gln924=)
c.2599C= (p.Gln867=)
c.2467C= (p.Gln823=)
c.2251C= (p.Gln751=)
2g.1540709C>GCA345696237TPOc.2734C>G (p.Gln912Glu)
c.2602C>G (p.Gln868Glu)
c.2215C>G (p.Gln739Glu)
c.2563C>G (p.Gln855Glu)
c.2389C>G (p.Gln797Glu)
n.397C>G
c.1043-1712C>G
c.1024C>G (p.Gln342Glu)
n.273-1712C>G
n.910-1712C>G
c.2619-1712C>G (n.2619-1712C>G)
c.2431C>G (p.Gln811Glu)
n.3834-1712C>G
c.2655-1712C>G (n.2655-1712C>G)
c.2638C>G (p.Gln880Glu)
c.2770C>G (p.Gln924Glu)
c.2599C>G (p.Gln867Glu)
c.2467C>G (p.Gln823Glu)
c.2251C>G (p.Gln751Glu)
 gnomAD v4
2g.1540709C>TCA345696236TPOc.2734C>T (p.Gln912Ter)
c.2602C>T (p.Gln868Ter)
c.2215C>T (p.Gln739Ter)
c.2563C>T (p.Gln855Ter)
c.2389C>T (p.Gln797Ter)
n.397C>T
c.1043-1712C>T
c.1024C>T (p.Gln342Ter)
n.273-1712C>T
n.910-1712C>T
c.2619-1712C>T (n.2619-1712C>T)
c.2431C>T (p.Gln811Ter)
n.3834-1712C>T
c.2655-1712C>T (n.2655-1712C>T)
c.2638C>T (p.Gln880Ter)
c.2770C>T (p.Gln924Ter)
c.2599C>T (p.Gln867Ter)
c.2467C>T (p.Gln823Ter)
c.2251C>T (p.Gln751Ter)
2g.1540710A=CA1233609902TPOc.2735A= (p.Gln912=)
c.2603A= (p.Gln868=)
c.2216A= (p.Gln739=)
c.2564A= (p.Gln855=)
c.2390A= (p.Gln797=)
n.398A=
c.1043-1711A=
c.1025A= (p.Gln342=)
n.273-1711A=
n.910-1711A=
c.2619-1711A= (n.2619-1711A=)
c.2432A= (p.Gln811=)
n.3834-1711A=
c.2655-1711A= (n.2655-1711A=)
c.2639A= (p.Gln880=)
c.2771A= (p.Gln924=)
c.2600A= (p.Gln867=)
c.2468A= (p.Gln823=)
c.2252A= (p.Gln751=)
2g.1540710A>CCA345696238TPOc.2735A>C (p.Gln912Pro)
c.2603A>C (p.Gln868Pro)
c.2216A>C (p.Gln739Pro)
c.2564A>C (p.Gln855Pro)
c.2390A>C (p.Gln797Pro)
n.398A>C
c.1043-1711A>C
c.1025A>C (p.Gln342Pro)
n.273-1711A>C
n.910-1711A>C
c.2619-1711A>C (n.2619-1711A>C)
c.2432A>C (p.Gln811Pro)
n.3834-1711A>C
c.2655-1711A>C (n.2655-1711A>C)
c.2639A>C (p.Gln880Pro)
c.2771A>C (p.Gln924Pro)
c.2600A>C (p.Gln867Pro)
c.2468A>C (p.Gln823Pro)
c.2252A>C (p.Gln751Pro)
2g.1540710A>GCA345696239TPOc.2735A>G (p.Gln912Arg)
c.2603A>G (p.Gln868Arg)
c.2216A>G (p.Gln739Arg)
c.2564A>G (p.Gln855Arg)
c.2390A>G (p.Gln797Arg)
n.398A>G
c.1043-1711A>G
c.1025A>G (p.Gln342Arg)
n.273-1711A>G
n.910-1711A>G
c.2619-1711A>G (n.2619-1711A>G)
c.2432A>G (p.Gln811Arg)
n.3834-1711A>G
c.2655-1711A>G (n.2655-1711A>G)
c.2639A>G (p.Gln880Arg)
c.2771A>G (p.Gln924Arg)
c.2600A>G (p.Gln867Arg)
c.2468A>G (p.Gln823Arg)
c.2252A>G (p.Gln751Arg)
2g.1540710A>TCA345696240TPOc.2735A>T (p.Gln912Leu)
c.2603A>T (p.Gln868Leu)
c.2216A>T (p.Gln739Leu)
c.2564A>T (p.Gln855Leu)
c.2390A>T (p.Gln797Leu)
n.398A>T
c.1043-1711A>T
c.1025A>T (p.Gln342Leu)
n.273-1711A>T
n.910-1711A>T
c.2619-1711A>T (n.2619-1711A>T)
c.2432A>T (p.Gln811Leu)
n.3834-1711A>T
c.2655-1711A>T (n.2655-1711A>T)
c.2639A>T (p.Gln880Leu)
c.2771A>T (p.Gln924Leu)
c.2600A>T (p.Gln867Leu)
c.2468A>T (p.Gln823Leu)
c.2252A>T (p.Gln751Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.1540711G>ACA424757233TPOc.2736G>A (p.Gln912=)
c.2604G>A (p.Gln868=)
c.2217G>A (p.Gln739=)
c.2565G>A (p.Gln855=)
c.2391G>A (p.Gln797=)
n.399G>A
c.1043-1710G>A
c.1026G>A (p.Gln342=)
n.273-1710G>A
n.910-1710G>A
c.2619-1710G>A (n.2619-1710G>A)
c.2433G>A (p.Gln811=)
n.3834-1710G>A
c.2655-1710G>A (n.2655-1710G>A)
c.2640G>A (p.Gln880=)
c.2772G>A (p.Gln924=)
c.2601G>A (p.Gln867=)
c.2469G>A (p.Gln823=)
c.2253G>A (p.Gln751=)
 COSMIC
2g.1540711G>CCA345696241TPOc.2736G>C (p.Gln912His)
c.2604G>C (p.Gln868His)
c.2217G>C (p.Gln739His)
c.2565G>C (p.Gln855His)
c.2391G>C (p.Gln797His)
n.399G>C
c.1043-1710G>C
c.1026G>C (p.Gln342His)
n.273-1710G>C
n.910-1710G>C
c.2619-1710G>C (n.2619-1710G>C)
c.2433G>C (p.Gln811His)
n.3834-1710G>C
c.2655-1710G>C (n.2655-1710G>C)
c.2640G>C (p.Gln880His)
c.2772G>C (p.Gln924His)
c.2601G>C (p.Gln867His)
c.2469G>C (p.Gln823His)
c.2253G>C (p.Gln751His)
2g.1540711G>TCA345696242TPOc.2736G>T (p.Gln912His)
c.2604G>T (p.Gln868His)
c.2217G>T (p.Gln739His)
c.2565G>T (p.Gln855His)
c.2391G>T (p.Gln797His)
n.399G>T
c.1043-1710G>T
c.1026G>T (p.Gln342His)
n.273-1710G>T
n.910-1710G>T
c.2619-1710G>T (n.2619-1710G>T)
c.2433G>T (p.Gln811His)
n.3834-1710G>T
c.2655-1710G>T (n.2655-1710G>T)
c.2640G>T (p.Gln880His)
c.2772G>T (p.Gln924His)
c.2601G>T (p.Gln867His)
c.2469G>T (p.Gln823His)
c.2253G>T (p.Gln751His)
2g.1540711_1540718delCA913089297TPOc.2736_2743del (p.Asp913AlafsTer?)
c.2604_2611del (p.Asp869AlafsTer?)
c.2217_2224del (p.Asp740AlafsTer?)
c.2565_2572del (p.Asp856AlafsTer?)
c.2391_2398del (p.Asp798AlafsTer?)
n.399_406del
c.1043-1710_1043-1703del
c.1026_1033del (p.Asp343AlafsTer?)
n.273-1710_273-1703del
n.910-1710_910-1703del
c.2619-1710_2619-1703del (n.2619-1710_2619-1703del)
c.2433_2440del (p.Asp812AlafsTer?)
n.3834-1710_3834-1703del
c.2655-1710_2655-1703del (n.2655-1710_2655-1703del)
c.2640_2647del (p.Asp881AlafsTer?)
c.2772_2779del (p.Asp925AlafsTer?)
c.2601_2608del (p.Asp868AlafsTer?)
c.2469_2476del (p.Asp824AlafsTer?)
c.2253_2260del (p.Asp752AlafsTer?)
 gnomAD v4
2g.1540713_1540728delCA2586964605TPOc.2738_2748+5del
c.2606_2616+5del
c.2219_2229+5del
c.2567_2577+5del
c.2393_2408del (p.Asp798AlafsTer?)
n.401_411+5del
c.1043-1708_1043-1693del
c.1028_1038+5del
n.273-1708_273-1693del
n.910-1708_910-1693del
c.2606_2621del (p.Asp869AlafsTer?)
c.2619-1708_2619-1693del (n.2619-1708_2619-1693del)
c.2435_2445+5del
n.3834-1708_3834-1693del
c.2655-1708_2655-1693del (n.2655-1708_2655-1693del)
c.2642_2657del (p.Asp881AlafsTer?)
c.2774_2784+5del
c.2642_2652+5del
c.2603_2613+5del
c.2471_2481+5del
c.2255_2265+5del
2g.1540712G>ACA1512266TPOc.2737G>A (p.Asp913Asn)
c.2605G>A (p.Asp869Asn)
c.2218G>A (p.Asp740Asn)
c.2566G>A (p.Asp856Asn)
c.2392G>A (p.Asp798Asn)
n.400G>A
c.1043-1709G>A
c.1027G>A (p.Asp343Asn)
n.273-1709G>A
n.910-1709G>A
c.2619-1709G>A (n.2619-1709G>A)
c.2434G>A (p.Asp812Asn)
n.3834-1709G>A
c.2655-1709G>A (n.2655-1709G>A)
c.2641G>A (p.Asp881Asn)
c.2773G>A (p.Asp925Asn)
c.2602G>A (p.Asp868Asn)
c.2470G>A (p.Asp824Asn)
c.2254G>A (p.Asp752Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540712G>CCA345696243TPOc.2737G>C (p.Asp913His)
c.2605G>C (p.Asp869His)
c.2218G>C (p.Asp740His)
c.2566G>C (p.Asp856His)
c.2392G>C (p.Asp798His)
n.400G>C
c.1043-1709G>C
c.1027G>C (p.Asp343His)
n.273-1709G>C
n.910-1709G>C
c.2619-1709G>C (n.2619-1709G>C)
c.2434G>C (p.Asp812His)
n.3834-1709G>C
c.2655-1709G>C (n.2655-1709G>C)
c.2641G>C (p.Asp881His)
c.2773G>C (p.Asp925His)
c.2602G>C (p.Asp868His)
c.2470G>C (p.Asp824His)
c.2254G>C (p.Asp752His)
2g.1540712G=CA1233609903TPOc.2737G= (p.Asp913=)
c.2605G= (p.Asp869=)
c.2218G= (p.Asp740=)
c.2566G= (p.Asp856=)
c.2392G= (p.Asp798=)
n.400G=
c.1043-1709G=
c.1027G= (p.Asp343=)
n.273-1709G=
n.910-1709G=
c.2619-1709G= (n.2619-1709G=)
c.2434G= (p.Asp812=)
n.3834-1709G=
c.2655-1709G= (n.2655-1709G=)
c.2641G= (p.Asp881=)
c.2773G= (p.Asp925=)
c.2602G= (p.Asp868=)
c.2470G= (p.Asp824=)
c.2254G= (p.Asp752=)
2g.1540712G>TCA345696244TPOc.2737G>T (p.Asp913Tyr)
c.2605G>T (p.Asp869Tyr)
c.2218G>T (p.Asp740Tyr)
c.2566G>T (p.Asp856Tyr)
c.2392G>T (p.Asp798Tyr)
n.400G>T
c.1043-1709G>T
c.1027G>T (p.Asp343Tyr)
n.273-1709G>T
n.910-1709G>T
c.2619-1709G>T (n.2619-1709G>T)
c.2434G>T (p.Asp812Tyr)
n.3834-1709G>T
c.2655-1709G>T (n.2655-1709G>T)
c.2641G>T (p.Asp881Tyr)
c.2773G>T (p.Asp925Tyr)
c.2602G>T (p.Asp868Tyr)
c.2470G>T (p.Asp824Tyr)
c.2254G>T (p.Asp752Tyr)
 gnomAD v4
2g.1540713A=CA1233609904TPOc.2738A= (p.Asp913=)
c.2606A= (p.Asp869=)
c.2219A= (p.Asp740=)
c.2567A= (p.Asp856=)
c.2393A= (p.Asp798=)
n.401A=
c.1043-1708A=
c.1028A= (p.Asp343=)
n.273-1708A=
n.910-1708A=
c.2619-1708A= (n.2619-1708A=)
c.2435A= (p.Asp812=)
n.3834-1708A=
c.2655-1708A= (n.2655-1708A=)
c.2642A= (p.Asp881=)
c.2774A= (p.Asp925=)
c.2603A= (p.Asp868=)
c.2471A= (p.Asp824=)
c.2255A= (p.Asp752=)
2g.1540713A>CCA345696245TPOc.2738A>C (p.Asp913Ala)
c.2606A>C (p.Asp869Ala)
c.2219A>C (p.Asp740Ala)
c.2567A>C (p.Asp856Ala)
c.2393A>C (p.Asp798Ala)
n.401A>C
c.1043-1708A>C
c.1028A>C (p.Asp343Ala)
n.273-1708A>C
n.910-1708A>C
c.2619-1708A>C (n.2619-1708A>C)
c.2435A>C (p.Asp812Ala)
n.3834-1708A>C
c.2655-1708A>C (n.2655-1708A>C)
c.2642A>C (p.Asp881Ala)
c.2774A>C (p.Asp925Ala)
c.2603A>C (p.Asp868Ala)
c.2471A>C (p.Asp824Ala)
c.2255A>C (p.Asp752Ala)
2g.1540713A>GCA345696246TPOc.2738A>G (p.Asp913Gly)
c.2606A>G (p.Asp869Gly)
c.2219A>G (p.Asp740Gly)
c.2567A>G (p.Asp856Gly)
c.2393A>G (p.Asp798Gly)
n.401A>G
c.1043-1708A>G
c.1028A>G (p.Asp343Gly)
n.273-1708A>G
n.910-1708A>G
c.2619-1708A>G (n.2619-1708A>G)
c.2435A>G (p.Asp812Gly)
n.3834-1708A>G
c.2655-1708A>G (n.2655-1708A>G)
c.2642A>G (p.Asp881Gly)
c.2774A>G (p.Asp925Gly)
c.2603A>G (p.Asp868Gly)
c.2471A>G (p.Asp824Gly)
c.2255A>G (p.Asp752Gly)
 gnomAD v4
2g.1540713A>TCA345696247TPOc.2738A>T (p.Asp913Val)
c.2606A>T (p.Asp869Val)
c.2219A>T (p.Asp740Val)
c.2567A>T (p.Asp856Val)
c.2393A>T (p.Asp798Val)
n.401A>T
c.1043-1708A>T
c.1028A>T (p.Asp343Val)
n.273-1708A>T
n.910-1708A>T
c.2619-1708A>T (n.2619-1708A>T)
c.2435A>T (p.Asp812Val)
n.3834-1708A>T
c.2655-1708A>T (n.2655-1708A>T)
c.2642A>T (p.Asp881Val)
c.2774A>T (p.Asp925Val)
c.2603A>T (p.Asp868Val)
c.2471A>T (p.Asp824Val)
c.2255A>T (p.Asp752Val)
 dbSNP
2g.1540714C>ACA345696248TPOc.2739C>A (p.Asp913Glu)
c.2607C>A (p.Asp869Glu)
c.2220C>A (p.Asp740Glu)
c.2568C>A (p.Asp856Glu)
c.2394C>A (p.Asp798Glu)
n.402C>A
c.1043-1707C>A
c.1029C>A (p.Asp343Glu)
n.273-1707C>A
n.910-1707C>A
c.2619-1707C>A (n.2619-1707C>A)
c.2436C>A (p.Asp812Glu)
n.3834-1707C>A
c.2655-1707C>A (n.2655-1707C>A)
c.2643C>A (p.Asp881Glu)
c.2775C>A (p.Asp925Glu)
c.2604C>A (p.Asp868Glu)
c.2472C>A (p.Asp824Glu)
c.2256C>A (p.Asp752Glu)
2g.1540714C=CA1233609905TPOc.2739C= (p.Asp913=)
c.2607C= (p.Asp869=)
c.2220C= (p.Asp740=)
c.2568C= (p.Asp856=)
c.2394C= (p.Asp798=)
n.402C=
c.1043-1707C=
c.1029C= (p.Asp343=)
n.273-1707C=
n.910-1707C=
c.2619-1707C= (n.2619-1707C=)
c.2436C= (p.Asp812=)
n.3834-1707C=
c.2655-1707C= (n.2655-1707C=)
c.2643C= (p.Asp881=)
c.2775C= (p.Asp925=)
c.2604C= (p.Asp868=)
c.2472C= (p.Asp824=)
c.2256C= (p.Asp752=)
2g.1540714C>GCA345696249TPOc.2739C>G (p.Asp913Glu)
c.2607C>G (p.Asp869Glu)
c.2220C>G (p.Asp740Glu)
c.2568C>G (p.Asp856Glu)
c.2394C>G (p.Asp798Glu)
n.402C>G
c.1043-1707C>G
c.1029C>G (p.Asp343Glu)
n.273-1707C>G
n.910-1707C>G
c.2619-1707C>G (n.2619-1707C>G)
c.2436C>G (p.Asp812Glu)
n.3834-1707C>G
c.2655-1707C>G (n.2655-1707C>G)
c.2643C>G (p.Asp881Glu)
c.2775C>G (p.Asp925Glu)
c.2604C>G (p.Asp868Glu)
c.2472C>G (p.Asp824Glu)
c.2256C>G (p.Asp752Glu)
 dbSNP
2g.1540714C>TCA424757247TPOc.2739C>T (p.Asp913=)
c.2607C>T (p.Asp869=)
c.2220C>T (p.Asp740=)
c.2568C>T (p.Asp856=)
c.2394C>T (p.Asp798=)
n.402C>T
c.1043-1707C>T
c.1029C>T (p.Asp343=)
n.273-1707C>T
n.910-1707C>T
c.2619-1707C>T (n.2619-1707C>T)
c.2436C>T (p.Asp812=)
n.3834-1707C>T
c.2655-1707C>T (n.2655-1707C>T)
c.2643C>T (p.Asp881=)
c.2775C>T (p.Asp925=)
c.2604C>T (p.Asp868=)
c.2472C>T (p.Asp824=)
c.2256C>T (p.Asp752=)
2g.1540714_1540725delCA2657648022TPOc.2739_2748+2del
c.2607_2616+2del
c.2220_2229+2del
c.2568_2577+2del
c.2394_2405del (p.Asp798_Val802delinsGlu)
n.402_411+2del
c.1043-1707_1043-1696del
c.1029_1038+2del
n.273-1707_273-1696del
n.910-1707_910-1696del
c.2607_2618del (p.Asp869_Val873delinsGlu)
c.2619-1707_2619-1696del (n.2619-1707_2619-1696del)
c.2436_2445+2del
n.3834-1707_3834-1696del
c.2655-1707_2655-1696del (n.2655-1707_2655-1696del)
c.2643_2654del (p.Asp881_Val885delinsGlu)
c.2775_2784+2del
c.2643_2652+2del
c.2604_2613+2del
c.2472_2481+2del
c.2256_2265+2del
 gnomAD v4
2g.1540715T>ACA1512267TPOc.2740T>A (p.Ser914Thr)
c.2608T>A (p.Ser870Thr)
c.2221T>A (p.Ser741Thr)
c.2569T>A (p.Ser857Thr)
c.2395T>A (p.Ser799Thr)
n.403T>A
c.1043-1706T>A
c.1030T>A (p.Ser344Thr)
n.273-1706T>A
n.910-1706T>A
c.2619-1706T>A (n.2619-1706T>A)
c.2437T>A (p.Ser813Thr)
n.3834-1706T>A
c.2655-1706T>A (n.2655-1706T>A)
c.2644T>A (p.Ser882Thr)
c.2776T>A (p.Ser926Thr)
c.2605T>A (p.Ser869Thr)
c.2473T>A (p.Ser825Thr)
c.2257T>A (p.Ser753Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.1540715T>CCA345696250TPOc.2740T>C (p.Ser914Pro)
c.2608T>C (p.Ser870Pro)
c.2221T>C (p.Ser741Pro)
c.2569T>C (p.Ser857Pro)
c.2395T>C (p.Ser799Pro)
n.403T>C
c.1043-1706T>C
c.1030T>C (p.Ser344Pro)
n.273-1706T>C
n.910-1706T>C
c.2619-1706T>C (n.2619-1706T>C)
c.2437T>C (p.Ser813Pro)
n.3834-1706T>C
c.2655-1706T>C (n.2655-1706T>C)
c.2644T>C (p.Ser882Pro)
c.2776T>C (p.Ser926Pro)
c.2605T>C (p.Ser869Pro)
c.2473T>C (p.Ser825Pro)
c.2257T>C (p.Ser753Pro)
2g.1540715T>GCA345696251TPOc.2740T>G (p.Ser914Ala)
c.2608T>G (p.Ser870Ala)
c.2221T>G (p.Ser741Ala)
c.2569T>G (p.Ser857Ala)
c.2395T>G (p.Ser799Ala)
n.403T>G
c.1043-1706T>G
c.1030T>G (p.Ser344Ala)
n.273-1706T>G
n.910-1706T>G
c.2619-1706T>G (n.2619-1706T>G)
c.2437T>G (p.Ser813Ala)
n.3834-1706T>G
c.2655-1706T>G (n.2655-1706T>G)
c.2644T>G (p.Ser882Ala)
c.2776T>G (p.Ser926Ala)
c.2605T>G (p.Ser869Ala)
c.2473T>G (p.Ser825Ala)
c.2257T>G (p.Ser753Ala)
2g.1540715T=CA1233609906TPOc.2740T= (p.Ser914=)
c.2608T= (p.Ser870=)
c.2221T= (p.Ser741=)
c.2569T= (p.Ser857=)
c.2395T= (p.Ser799=)
n.403T=
c.1043-1706T=
c.1030T= (p.Ser344=)
n.273-1706T=
n.910-1706T=
c.2619-1706T= (n.2619-1706T=)
c.2437T= (p.Ser813=)
n.3834-1706T=
c.2655-1706T= (n.2655-1706T=)
c.2644T= (p.Ser882=)
c.2776T= (p.Ser926=)
c.2605T= (p.Ser869=)
c.2473T= (p.Ser825=)
c.2257T= (p.Ser753=)
2g.1540716C>ACA345696252TPOc.2741C>A (p.Ser914Ter)
c.2609C>A (p.Ser870Ter)
c.2222C>A (p.Ser741Ter)
c.2570C>A (p.Ser857Ter)
c.2396C>A (p.Ser799Ter)
n.404C>A
c.1043-1705C>A
c.1031C>A (p.Ser344Ter)
n.273-1705C>A
n.910-1705C>A
c.2619-1705C>A (n.2619-1705C>A)
c.2438C>A (p.Ser813Ter)
n.3834-1705C>A
c.2655-1705C>A (n.2655-1705C>A)
c.2645C>A (p.Ser882Ter)
c.2777C>A (p.Ser926Ter)
c.2606C>A (p.Ser869Ter)
c.2474C>A (p.Ser825Ter)
c.2258C>A (p.Ser753Ter)
2g.1540716C=CA1233609907TPOc.2741C= (p.Ser914=)
c.2609C= (p.Ser870=)
c.2222C= (p.Ser741=)
c.2570C= (p.Ser857=)
c.2396C= (p.Ser799=)
n.404C=
c.1043-1705C=
c.1031C= (p.Ser344=)
n.273-1705C=
n.910-1705C=
c.2619-1705C= (n.2619-1705C=)
c.2438C= (p.Ser813=)
n.3834-1705C=
c.2655-1705C= (n.2655-1705C=)
c.2645C= (p.Ser882=)
c.2777C= (p.Ser926=)
c.2606C= (p.Ser869=)
c.2474C= (p.Ser825=)
c.2258C= (p.Ser753=)
2g.1540716C>GCA345696253TPOc.2741C>G (p.Ser914Trp)
c.2609C>G (p.Ser870Trp)
c.2222C>G (p.Ser741Trp)
c.2570C>G (p.Ser857Trp)
c.2396C>G (p.Ser799Trp)
n.404C>G
c.1043-1705C>G
c.1031C>G (p.Ser344Trp)
n.273-1705C>G
n.910-1705C>G
c.2619-1705C>G (n.2619-1705C>G)
c.2438C>G (p.Ser813Trp)
n.3834-1705C>G
c.2655-1705C>G (n.2655-1705C>G)
c.2645C>G (p.Ser882Trp)
c.2777C>G (p.Ser926Trp)
c.2606C>G (p.Ser869Trp)
c.2474C>G (p.Ser825Trp)
c.2258C>G (p.Ser753Trp)
2g.1540716C>TCA1512268TPOc.2741C>T (p.Ser914Leu)
c.2609C>T (p.Ser870Leu)
c.2222C>T (p.Ser741Leu)
c.2570C>T (p.Ser857Leu)
c.2396C>T (p.Ser799Leu)
n.404C>T
c.1043-1705C>T
c.1031C>T (p.Ser344Leu)
n.273-1705C>T
n.910-1705C>T
c.2619-1705C>T (n.2619-1705C>T)
c.2438C>T (p.Ser813Leu)
n.3834-1705C>T
c.2655-1705C>T (n.2655-1705C>T)
c.2645C>T (p.Ser882Leu)
c.2777C>T (p.Ser926Leu)
c.2606C>T (p.Ser869Leu)
c.2474C>T (p.Ser825Leu)
c.2258C>T (p.Ser753Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.1540716_1540719dupCA2657648023TPOc.2741_2744dup (p.Glu915AspfsTer?)
c.2609_2612dup (p.Glu871AspfsTer?)
c.2222_2225dup (p.Glu742AspfsTer?)
c.2570_2573dup (p.Glu858AspfsTer?)
c.2396_2399dup (p.Glu800AspfsTer?)
n.404_407dup
c.1043-1705_1043-1702dup
c.1031_1034dup (p.Glu345AspfsTer?)
n.273-1705_273-1702dup
n.910-1705_910-1702dup
c.2619-1705_2619-1702dup (n.2619-1705_2619-1702dup)
c.2438_2441dup (p.Glu814AspfsTer?)
n.3834-1705_3834-1702dup
c.2655-1705_2655-1702dup (n.2655-1705_2655-1702dup)
c.2645_2648dup (p.Glu883AspfsTer?)
c.2777_2780dup (p.Glu927AspfsTer?)
c.2606_2609dup (p.Glu870AspfsTer?)
c.2474_2477dup (p.Glu826AspfsTer?)
c.2258_2261dup (p.Glu754AspfsTer?)
 gnomAD v4
2g.1540717G>ACA1512269TPOc.2742G>A (p.Ser914=)
c.2610G>A (p.Ser870=)
c.2223G>A (p.Ser741=)
c.2571G>A (p.Ser857=)
c.2397G>A (p.Ser799=)
n.405G>A
c.1043-1704G>A
c.1032G>A (p.Ser344=)
n.273-1704G>A
n.910-1704G>A
c.2619-1704G>A (n.2619-1704G>A)
c.2439G>A (p.Ser813=)
n.3834-1704G>A
c.2655-1704G>A (n.2655-1704G>A)
c.2646G>A (p.Ser882=)
c.2778G>A (p.Ser926=)
c.2607G>A (p.Ser869=)
c.2475G>A (p.Ser825=)
c.2259G>A (p.Ser753=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540717G>CCA424757249TPOc.2742G>C (p.Ser914=)
c.2610G>C (p.Ser870=)
c.2223G>C (p.Ser741=)
c.2571G>C (p.Ser857=)
c.2397G>C (p.Ser799=)
n.405G>C
c.1043-1704G>C
c.1032G>C (p.Ser344=)
n.273-1704G>C
n.910-1704G>C
c.2619-1704G>C (n.2619-1704G>C)
c.2439G>C (p.Ser813=)
n.3834-1704G>C
c.2655-1704G>C (n.2655-1704G>C)
c.2646G>C (p.Ser882=)
c.2778G>C (p.Ser926=)
c.2607G>C (p.Ser869=)
c.2475G>C (p.Ser825=)
c.2259G>C (p.Ser753=)
 gnomAD v4
2g.1540717G=CA1233609908TPOc.2742G= (p.Ser914=)
c.2610G= (p.Ser870=)
c.2223G= (p.Ser741=)
c.2571G= (p.Ser857=)
c.2397G= (p.Ser799=)
n.405G=
c.1043-1704G=
c.1032G= (p.Ser344=)
n.273-1704G=
n.910-1704G=
c.2619-1704G= (n.2619-1704G=)
c.2439G= (p.Ser813=)
n.3834-1704G=
c.2655-1704G= (n.2655-1704G=)
c.2646G= (p.Ser882=)
c.2778G= (p.Ser926=)
c.2607G= (p.Ser869=)
c.2475G= (p.Ser825=)
c.2259G= (p.Ser753=)
2g.1540717G>TCA424757250TPOc.2742G>T (p.Ser914=)
c.2610G>T (p.Ser870=)
c.2223G>T (p.Ser741=)
c.2571G>T (p.Ser857=)
c.2397G>T (p.Ser799=)
n.405G>T
c.1043-1704G>T
c.1032G>T (p.Ser344=)
n.273-1704G>T
n.910-1704G>T
c.2619-1704G>T (n.2619-1704G>T)
c.2439G>T (p.Ser813=)
n.3834-1704G>T
c.2655-1704G>T (n.2655-1704G>T)
c.2646G>T (p.Ser882=)
c.2778G>T (p.Ser926=)
c.2607G>T (p.Ser869=)
c.2475G>T (p.Ser825=)
c.2259G>T (p.Ser753=)
2g.1540718G>ACA345696254TPOc.2743G>A (p.Glu915Lys)
c.2611G>A (p.Glu871Lys)
c.2224G>A (p.Glu742Lys)
c.2572G>A (p.Glu858Lys)
c.2398G>A (p.Glu800Lys)
n.406G>A
c.1043-1703G>A
c.1033G>A (p.Glu345Lys)
n.273-1703G>A
n.910-1703G>A
c.2619-1703G>A (n.2619-1703G>A)
c.2440G>A (p.Glu814Lys)
n.3834-1703G>A
c.2655-1703G>A (n.2655-1703G>A)
c.2647G>A (p.Glu883Lys)
c.2779G>A (p.Glu927Lys)
c.2608G>A (p.Glu870Lys)
c.2476G>A (p.Glu826Lys)
c.2260G>A (p.Glu754Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.1540718G>CCA1512270TPOc.2743G>C (p.Glu915Gln)
c.2611G>C (p.Glu871Gln)
c.2224G>C (p.Glu742Gln)
c.2572G>C (p.Glu858Gln)
c.2398G>C (p.Glu800Gln)
n.406G>C
c.1043-1703G>C
c.1033G>C (p.Glu345Gln)
n.273-1703G>C
n.910-1703G>C
c.2619-1703G>C (n.2619-1703G>C)
c.2440G>C (p.Glu814Gln)
n.3834-1703G>C
c.2655-1703G>C (n.2655-1703G>C)
c.2647G>C (p.Glu883Gln)
c.2779G>C (p.Glu927Gln)
c.2608G>C (p.Glu870Gln)
c.2476G>C (p.Glu826Gln)
c.2260G>C (p.Glu754Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.1540718G=CA1233609909TPOc.2743G= (p.Glu915=)
c.2611G= (p.Glu871=)
c.2224G= (p.Glu742=)
c.2572G= (p.Glu858=)
c.2398G= (p.Glu800=)
n.406G=
c.1043-1703G=
c.1033G= (p.Glu345=)
n.273-1703G=
n.910-1703G=
c.2619-1703G= (n.2619-1703G=)
c.2440G= (p.Glu814=)
n.3834-1703G=
c.2655-1703G= (n.2655-1703G=)
c.2647G= (p.Glu883=)
c.2779G= (p.Glu927=)
c.2608G= (p.Glu870=)
c.2476G= (p.Glu826=)
c.2260G= (p.Glu754=)
2g.1540718G>TCA345696255TPOc.2743G>T (p.Glu915Ter)
c.2611G>T (p.Glu871Ter)
c.2224G>T (p.Glu742Ter)
c.2572G>T (p.Glu858Ter)
c.2398G>T (p.Glu800Ter)
n.406G>T
c.1043-1703G>T
c.1033G>T (p.Glu345Ter)
n.273-1703G>T
n.910-1703G>T
c.2619-1703G>T (n.2619-1703G>T)
c.2440G>T (p.Glu814Ter)
n.3834-1703G>T
c.2655-1703G>T (n.2655-1703G>T)
c.2647G>T (p.Glu883Ter)
c.2779G>T (p.Glu927Ter)
c.2608G>T (p.Glu870Ter)
c.2476G>T (p.Glu826Ter)
c.2260G>T (p.Glu754Ter)
2g.1540719A>CCA345696256TPOc.2744A>C (p.Glu915Ala)
c.2612A>C (p.Glu871Ala)
c.2225A>C (p.Glu742Ala)
c.2573A>C (p.Glu858Ala)
c.2399A>C (p.Glu800Ala)
n.407A>C
c.1043-1702A>C
c.1034A>C (p.Glu345Ala)
n.273-1702A>C
n.910-1702A>C
c.2619-1702A>C (n.2619-1702A>C)
c.2441A>C (p.Glu814Ala)
n.3834-1702A>C
c.2655-1702A>C (n.2655-1702A>C)
c.2648A>C (p.Glu883Ala)
c.2780A>C (p.Glu927Ala)
c.2609A>C (p.Glu870Ala)
c.2477A>C (p.Glu826Ala)
c.2261A>C (p.Glu754Ala)
2g.1540719A>GCA345696257TPOc.2744A>G (p.Glu915Gly)
c.2612A>G (p.Glu871Gly)
c.2225A>G (p.Glu742Gly)
c.2573A>G (p.Glu858Gly)
c.2399A>G (p.Glu800Gly)
n.407A>G
c.1043-1702A>G
c.1034A>G (p.Glu345Gly)
n.273-1702A>G
n.910-1702A>G
c.2619-1702A>G (n.2619-1702A>G)
c.2441A>G (p.Glu814Gly)
n.3834-1702A>G
c.2655-1702A>G (n.2655-1702A>G)
c.2648A>G (p.Glu883Gly)
c.2780A>G (p.Glu927Gly)
c.2609A>G (p.Glu870Gly)
c.2477A>G (p.Glu826Gly)
c.2261A>G (p.Glu754Gly)
 dbSNP
2g.1540719A>TCA345696258TPOc.2744A>T (p.Glu915Val)
c.2612A>T (p.Glu871Val)
c.2225A>T (p.Glu742Val)
c.2573A>T (p.Glu858Val)
c.2399A>T (p.Glu800Val)
n.407A>T
c.1043-1702A>T
c.1034A>T (p.Glu345Val)
n.273-1702A>T
n.910-1702A>T
c.2619-1702A>T (n.2619-1702A>T)
c.2441A>T (p.Glu814Val)
n.3834-1702A>T
c.2655-1702A>T (n.2655-1702A>T)
c.2648A>T (p.Glu883Val)
c.2780A>T (p.Glu927Val)
c.2609A>T (p.Glu870Val)
c.2477A>T (p.Glu826Val)
c.2261A>T (p.Glu754Val)
2g.1540720G>ACA424757254TPOc.2745G>A (p.Glu915=)
c.2613G>A (p.Glu871=)
c.2226G>A (p.Glu742=)
c.2574G>A (p.Glu858=)
c.2400G>A (p.Glu800=)
n.408G>A
c.1043-1701G>A
c.1035G>A (p.Glu345=)
n.273-1701G>A
n.910-1701G>A
c.2619-1701G>A (n.2619-1701G>A)
c.2442G>A (p.Glu814=)
n.3834-1701G>A
c.2655-1701G>A (n.2655-1701G>A)
c.2649G>A (p.Glu883=)
c.2781G>A (p.Glu927=)
c.2610G>A (p.Glu870=)
c.2478G>A (p.Glu826=)
c.2262G>A (p.Glu754=)
 gnomAD v4
2g.1540720G>CCA345696260TPOc.2745G>C (p.Glu915Asp)
c.2613G>C (p.Glu871Asp)
c.2226G>C (p.Glu742Asp)
c.2574G>C (p.Glu858Asp)
c.2400G>C (p.Glu800Asp)
n.408G>C
c.1043-1701G>C
c.1035G>C (p.Glu345Asp)
n.273-1701G>C
n.910-1701G>C
c.2619-1701G>C (n.2619-1701G>C)
c.2442G>C (p.Glu814Asp)
n.3834-1701G>C
c.2655-1701G>C (n.2655-1701G>C)
c.2649G>C (p.Glu883Asp)
c.2781G>C (p.Glu927Asp)
c.2610G>C (p.Glu870Asp)
c.2478G>C (p.Glu826Asp)
c.2262G>C (p.Glu754Asp)
 dbSNP gnomAD v4
2g.1540720G=CA1233609910TPOc.2745G= (p.Glu915=)
c.2613G= (p.Glu871=)
c.2226G= (p.Glu742=)
c.2574G= (p.Glu858=)
c.2400G= (p.Glu800=)
n.408G=
c.1043-1701G=
c.1035G= (p.Glu345=)
n.273-1701G=
n.910-1701G=
c.2619-1701G= (n.2619-1701G=)
c.2442G= (p.Glu814=)
n.3834-1701G=
c.2655-1701G= (n.2655-1701G=)
c.2649G= (p.Glu883=)
c.2781G= (p.Glu927=)
c.2610G= (p.Glu870=)
c.2478G= (p.Glu826=)
c.2262G= (p.Glu754=)
2g.1540720G>TCA345696259TPOc.2745G>T (p.Glu915Asp)
c.2613G>T (p.Glu871Asp)
c.2226G>T (p.Glu742Asp)
c.2574G>T (p.Glu858Asp)
c.2400G>T (p.Glu800Asp)
n.408G>T
c.1043-1701G>T
c.1035G>T (p.Glu345Asp)
n.273-1701G>T
n.910-1701G>T
c.2619-1701G>T (n.2619-1701G>T)
c.2442G>T (p.Glu814Asp)
n.3834-1701G>T
c.2655-1701G>T (n.2655-1701G>T)
c.2649G>T (p.Glu883Asp)
c.2781G>T (p.Glu927Asp)
c.2610G>T (p.Glu870Asp)
c.2478G>T (p.Glu826Asp)
c.2262G>T (p.Glu754Asp)
2g.1540721C>ACA345696261TPOc.2746C>A (p.Gln916Lys)
c.2614C>A (p.Gln872Lys)
c.2227C>A (p.Gln743Lys)
c.2575C>A (p.Gln859Lys)
c.2401C>A (p.Gln801Lys)
n.409C>A
c.1043-1700C>A
c.1036C>A (p.Gln346Lys)
n.273-1700C>A
n.910-1700C>A
c.2619-1700C>A (n.2619-1700C>A)
c.2443C>A (p.Gln815Lys)
n.3834-1700C>A
c.2655-1700C>A (n.2655-1700C>A)
c.2650C>A (p.Gln884Lys)
c.2782C>A (p.Gln928Lys)
c.2611C>A (p.Gln871Lys)
c.2479C>A (p.Gln827Lys)
c.2263C>A (p.Gln755Lys)
 COSMIC
2g.1540721C>GCA345696262TPOc.2746C>G (p.Gln916Glu)
c.2614C>G (p.Gln872Glu)
c.2227C>G (p.Gln743Glu)
c.2575C>G (p.Gln859Glu)
c.2401C>G (p.Gln801Glu)
n.409C>G
c.1043-1700C>G
c.1036C>G (p.Gln346Glu)
n.273-1700C>G
n.910-1700C>G
c.2619-1700C>G (n.2619-1700C>G)
c.2443C>G (p.Gln815Glu)
n.3834-1700C>G
c.2655-1700C>G (n.2655-1700C>G)
c.2650C>G (p.Gln884Glu)
c.2782C>G (p.Gln928Glu)
c.2611C>G (p.Gln871Glu)
c.2479C>G (p.Gln827Glu)
c.2263C>G (p.Gln755Glu)
2g.1540721C>TCA345696263TPOc.2746C>T (p.Gln916Ter)
c.2614C>T (p.Gln872Ter)
c.2227C>T (p.Gln743Ter)
c.2575C>T (p.Gln859Ter)
c.2401C>T (p.Gln801Ter)
n.409C>T
c.1043-1700C>T
c.1036C>T (p.Gln346Ter)
n.273-1700C>T
n.910-1700C>T
c.2619-1700C>T (n.2619-1700C>T)
c.2443C>T (p.Gln815Ter)
n.3834-1700C>T
c.2655-1700C>T (n.2655-1700C>T)
c.2650C>T (p.Gln884Ter)
c.2782C>T (p.Gln928Ter)
c.2611C>T (p.Gln871Ter)
c.2479C>T (p.Gln827Ter)
c.2263C>T (p.Gln755Ter)
2g.1540722A>CCA345696264TPOc.2747A>C (p.Gln916Pro)
c.2615A>C (p.Gln872Pro)
c.2228A>C (p.Gln743Pro)
c.2576A>C (p.Gln859Pro)
c.2402A>C (p.Gln801Pro)
n.410A>C
c.1043-1699A>C
c.1037A>C (p.Gln346Pro)
n.273-1699A>C
n.910-1699A>C
c.2619-1699A>C (n.2619-1699A>C)
c.2444A>C (p.Gln815Pro)
n.3834-1699A>C
c.2655-1699A>C (n.2655-1699A>C)
c.2651A>C (p.Gln884Pro)
c.2783A>C (p.Gln928Pro)
c.2612A>C (p.Gln871Pro)
c.2480A>C (p.Gln827Pro)
c.2264A>C (p.Gln755Pro)
2g.1540722A>GCA345696265TPOc.2747A>G (p.Gln916Arg)
c.2615A>G (p.Gln872Arg)
c.2228A>G (p.Gln743Arg)
c.2576A>G (p.Gln859Arg)
c.2402A>G (p.Gln801Arg)
n.410A>G
c.1043-1699A>G
c.1037A>G (p.Gln346Arg)
n.273-1699A>G
n.910-1699A>G
c.2619-1699A>G (n.2619-1699A>G)
c.2444A>G (p.Gln815Arg)
n.3834-1699A>G
c.2655-1699A>G (n.2655-1699A>G)
c.2651A>G (p.Gln884Arg)
c.2783A>G (p.Gln928Arg)
c.2612A>G (p.Gln871Arg)
c.2480A>G (p.Gln827Arg)
c.2264A>G (p.Gln755Arg)
2g.1540722A>TCA345696266TPOc.2747A>T (p.Gln916Leu)
c.2615A>T (p.Gln872Leu)
c.2228A>T (p.Gln743Leu)
c.2576A>T (p.Gln859Leu)
c.2402A>T (p.Gln801Leu)
n.410A>T
c.1043-1699A>T
c.1037A>T (p.Gln346Leu)
n.273-1699A>T
n.910-1699A>T
c.2619-1699A>T (n.2619-1699A>T)
c.2444A>T (p.Gln815Leu)
n.3834-1699A>T
c.2655-1699A>T (n.2655-1699A>T)
c.2651A>T (p.Gln884Leu)
c.2783A>T (p.Gln928Leu)
c.2612A>T (p.Gln871Leu)
c.2480A>T (p.Gln827Leu)
c.2264A>T (p.Gln755Leu)

Number of alleles fetched