Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12649129dupCA2582717942MAN2B1c.2436+9dup (n.2436+9dup)
c.2433+9dup (n.2433+9dup)
n.3026+9dup
c.2439+9dup (n.2439+9dup)
c.1335+9dup (n.1335+9dup)
 gnomAD v4
19g.12649129C>GCA505624416MAN2B1c.2436+7G>C (n.2436+7G>C)
c.2433+7G>C (n.2433+7G>C)
n.3026+7G>C
c.2439+7G>C (n.2439+7G>C)
c.1335+7G>C (n.1335+7G>C)
 ClinVar dbSNP gnomAD v4
19g.12649131C>TCA2582717943MAN2B1c.2436+5G>A (n.2436+5G>A)
c.2433+5G>A (n.2433+5G>A)
n.3026+5G>A
c.2439+5G>A (n.2439+5G>A)
c.1335+5G>A (n.1335+5G>A)
 ClinVar gnomAD v4
19g.12649134A=CA2323499547MAN2B1c.2436+2T= (n.2436+2T=)
c.2433+2T= (n.2433+2T=)
n.3026+2T=
c.2439+2T= (n.2439+2T=)
c.1335+2T= (n.1335+2T=)
19g.12649134A>CCA404240816MAN2B1c.2436+2T>G (n.2436+2T>G)
c.2433+2T>G (n.2433+2T>G)
n.3026+2T>G
c.2439+2T>G (n.2439+2T>G)
c.1335+2T>G (n.1335+2T>G)
19g.12649134A>GCA221084MAN2B1c.2436+2T>C (n.2436+2T>C)
c.2433+2T>C (n.2433+2T>C)
n.3026+2T>C
c.2439+2T>C (n.2439+2T>C)
c.1335+2T>C (n.1335+2T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12649134A>TCA404240817MAN2B1c.2436+2T>A (n.2436+2T>A)
c.2433+2T>A (n.2433+2T>A)
n.3026+2T>A
c.2439+2T>A (n.2439+2T>A)
c.1335+2T>A (n.1335+2T>A)
19g.12649135C>ACA404240820MAN2B1c.2436+1G>T (n.2436+1G>T)
c.2433+1G>T (n.2433+1G>T)
n.3026+1G>T
c.2439+1G>T (n.2439+1G>T)
c.1335+1G>T (n.1335+1G>T)
19g.12649135C=CA2323499548MAN2B1c.2436+1G= (n.2436+1G=)
c.2433+1G= (n.2433+1G=)
n.3026+1G=
c.2439+1G= (n.2439+1G=)
c.1335+1G= (n.1335+1G=)
19g.12649135C>GCA404240822MAN2B1c.2436+1G>C (n.2436+1G>C)
c.2433+1G>C (n.2433+1G>C)
n.3026+1G>C
c.2439+1G>C (n.2439+1G>C)
c.1335+1G>C (n.1335+1G>C)
 gnomAD v4
19g.12649135C>TCA305461804MAN2B1c.2436+1G>A (n.2436+1G>A)
c.2433+1G>A (n.2433+1G>A)
n.3026+1G>A
c.2439+1G>A (n.2439+1G>A)
c.1335+1G>A (n.1335+1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12649136delCA2582717944MAN2B1c.2436+1del
c.2433+1del
n.3026+1del
c.2439+1del
c.1335+1del
 gnomAD v4
19g.12649136C>ACA404240825MAN2B1c.2436G>T (p.Met812Ile)
c.2433G>T (p.Met811Ile)
n.3026G>T
c.2439G>T (p.Met813Ile)
c.1335G>T (p.Met445Ile)
19g.12649136C>GCA404240832MAN2B1c.2436G>C (p.Met812Ile)
c.2433G>C (p.Met811Ile)
n.3026G>C
c.2439G>C (p.Met813Ile)
c.1335G>C (p.Met445Ile)
19g.12649136C>TCA404240835MAN2B1c.2436G>A (p.Met812Ile)
c.2433G>A (p.Met811Ile)
n.3026G>A
c.2439G>A (p.Met813Ile)
c.1335G>A (p.Met445Ile)
19g.12649137A=CA2323499549MAN2B1c.2435T= (p.Met812=)
c.2432T= (p.Met811=)
n.3025T=
c.2438T= (p.Met813=)
c.1334T= (p.Met445=)
19g.12649137A>CCA404240848MAN2B1c.2435T>G (p.Met812Arg)
c.2432T>G (p.Met811Arg)
n.3025T>G
c.2438T>G (p.Met813Arg)
c.1334T>G (p.Met445Arg)
19g.12649137A>GCA9226038MAN2B1c.2435T>C (p.Met812Thr)
c.2432T>C (p.Met811Thr)
n.3025T>C
c.2438T>C (p.Met813Thr)
c.1334T>C (p.Met445Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649137A>TCA404240843MAN2B1c.2435T>A (p.Met812Lys)
c.2432T>A (p.Met811Lys)
n.3025T>A
c.2438T>A (p.Met813Lys)
c.1334T>A (p.Met445Lys)
19g.12649138T>ACA404240853MAN2B1c.2434A>T (p.Met812Leu)
c.2431A>T (p.Met811Leu)
n.3024A>T
c.2437A>T (p.Met813Leu)
c.1333A>T (p.Met445Leu)
19g.12649138T>CCA404240856MAN2B1c.2434A>G (p.Met812Val)
c.2431A>G (p.Met811Val)
n.3024A>G
c.2437A>G (p.Met813Val)
c.1333A>G (p.Met445Val)
19g.12649138T>GCA404240857MAN2B1c.2434A>C (p.Met812Leu)
c.2431A>C (p.Met811Leu)
n.3024A>C
c.2437A>C (p.Met813Leu)
c.1333A>C (p.Met445Leu)
 gnomAD v4
19g.12649139G>ACA505624417MAN2B1c.2433C>T (p.Leu811=)
c.2430C>T (p.Leu810=)
n.3023C>T
c.2436C>T (p.Leu812=)
c.1332C>T (p.Leu444=)
19g.12649139G>CCA505624418MAN2B1c.2433C>G (p.Leu811=)
c.2430C>G (p.Leu810=)
n.3023C>G
c.2436C>G (p.Leu812=)
c.1332C>G (p.Leu444=)
 gnomAD v4
19g.12649139G>TCA505624419MAN2B1c.2433C>A (p.Leu811=)
c.2430C>A (p.Leu810=)
n.3023C>A
c.2436C>A (p.Leu812=)
c.1332C>A (p.Leu444=)
19g.12649140A>CCA404240859MAN2B1c.2432T>G (p.Leu811Arg)
c.2429T>G (p.Leu810Arg)
n.3022T>G
c.2435T>G (p.Leu812Arg)
c.1331T>G (p.Leu444Arg)
19g.12649140A>GCA404240861MAN2B1c.2432T>C (p.Leu811Pro)
c.2429T>C (p.Leu810Pro)
n.3022T>C
c.2435T>C (p.Leu812Pro)
c.1331T>C (p.Leu444Pro)
19g.12649140A>TCA404240864MAN2B1c.2432T>A (p.Leu811His)
c.2429T>A (p.Leu810His)
n.3022T>A
c.2435T>A (p.Leu812His)
c.1331T>A (p.Leu444His)
19g.12649141G>ACA9226039MAN2B1c.2431C>T (p.Leu811Phe)
c.2428C>T (p.Leu810Phe)
n.3021C>T
c.2434C>T (p.Leu812Phe)
c.1330C>T (p.Leu444Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649141G>CCA404240867MAN2B1c.2431C>G (p.Leu811Val)
c.2428C>G (p.Leu810Val)
n.3021C>G
c.2434C>G (p.Leu812Val)
c.1330C>G (p.Leu444Val)
19g.12649141G=CA2323499550MAN2B1c.2431C= (p.Leu811=)
c.2428C= (p.Leu810=)
n.3021C=
c.2434C= (p.Leu812=)
c.1330C= (p.Leu444=)
19g.12649141G>TCA404240870MAN2B1c.2431C>A (p.Leu811Ile)
c.2428C>A (p.Leu810Ile)
n.3021C>A
c.2434C>A (p.Leu812Ile)
c.1330C>A (p.Leu444Ile)
19g.12649142C>ACA404240875MAN2B1c.2430G>T (p.Glu810Asp)
c.2427G>T (p.Glu809Asp)
n.3020G>T
c.2433G>T (p.Glu811Asp)
c.1329G>T (p.Glu443Asp)
19g.12649142C>GCA404240880MAN2B1c.2430G>C (p.Glu810Asp)
c.2427G>C (p.Glu809Asp)
n.3020G>C
c.2433G>C (p.Glu811Asp)
c.1329G>C (p.Glu443Asp)
19g.12649142C>TCA505624420MAN2B1c.2430G>A (p.Glu810=)
c.2427G>A (p.Glu809=)
n.3020G>A
c.2433G>A (p.Glu811=)
c.1329G>A (p.Glu443=)
19g.12649143T>ACA404240881MAN2B1c.2429A>T (p.Glu810Val)
c.2426A>T (p.Glu809Val)
n.3019A>T
c.2432A>T (p.Glu811Val)
c.1328A>T (p.Glu443Val)
19g.12649143T>CCA404240884MAN2B1c.2429A>G (p.Glu810Gly)
c.2426A>G (p.Glu809Gly)
n.3019A>G
c.2432A>G (p.Glu811Gly)
c.1328A>G (p.Glu443Gly)
19g.12649143T>GCA404240891MAN2B1c.2429A>C (p.Glu810Ala)
c.2426A>C (p.Glu809Ala)
n.3019A>C
c.2432A>C (p.Glu811Ala)
c.1328A>C (p.Glu443Ala)
19g.12649144C>ACA404240893MAN2B1c.2428G>T (p.Glu810Ter)
c.2425G>T (p.Glu809Ter)
n.3018G>T
c.2431G>T (p.Glu811Ter)
c.1327G>T (p.Glu443Ter)
19g.12649144C=CA2323499551MAN2B1c.2428G= (p.Glu810=)
c.2425G= (p.Glu809=)
n.3018G=
c.2431G= (p.Glu811=)
c.1327G= (p.Glu443=)
19g.12649144C>GCA404240895MAN2B1c.2428G>C (p.Glu810Gln)
c.2425G>C (p.Glu809Gln)
n.3018G>C
c.2431G>C (p.Glu811Gln)
c.1327G>C (p.Glu443Gln)
 dbSNP
19g.12649144C>TCA404240894MAN2B1c.2428G>A (p.Glu810Lys)
c.2425G>A (p.Glu809Lys)
n.3018G>A
c.2431G>A (p.Glu811Lys)
c.1327G>A (p.Glu443Lys)
19g.12649145C>ACA505624422MAN2B1c.2427G>T (p.Leu809=)
c.2424G>T (p.Leu808=)
n.3017G>T
c.2430G>T (p.Leu810=)
c.1326G>T (p.Leu442=)
19g.12649145C>GCA505624423MAN2B1c.2427G>C (p.Leu809=)
c.2424G>C (p.Leu808=)
n.3017G>C
c.2430G>C (p.Leu810=)
c.1326G>C (p.Leu442=)
19g.12649145C>TCA505624421MAN2B1c.2427G>A (p.Leu809=)
c.2424G>A (p.Leu808=)
n.3017G>A
c.2430G>A (p.Leu810=)
c.1326G>A (p.Leu442=)
19g.12649146A=CA2323499552MAN2B1c.2426T= (p.Leu809=)
c.2423T= (p.Leu808=)
n.3016T=
c.2429T= (p.Leu810=)
c.1325T= (p.Leu442=)
19g.12649146A>CCA404240897MAN2B1c.2426T>G (p.Leu809Arg)
c.2423T>G (p.Leu808Arg)
n.3016T>G
c.2429T>G (p.Leu810Arg)
c.1325T>G (p.Leu442Arg)
19g.12649146A>GCA341737MAN2B1c.2426T>C (p.Leu809Pro)
c.2423T>C (p.Leu808Pro)
n.3016T>C
c.2429T>C (p.Leu810Pro)
c.1325T>C (p.Leu442Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649146A>TCA404240901MAN2B1c.2426T>A (p.Leu809Gln)
c.2423T>A (p.Leu808Gln)
n.3016T>A
c.2429T>A (p.Leu810Gln)
c.1325T>A (p.Leu442Gln)
19g.12649147G>ACA505624424MAN2B1c.2425C>T (p.Leu809=)
c.2422C>T (p.Leu808=)
n.3015C>T
c.2428C>T (p.Leu810=)
c.1324C>T (p.Leu442=)
19g.12649147G>CCA404240906MAN2B1c.2425C>G (p.Leu809Val)
c.2422C>G (p.Leu808Val)
n.3015C>G
c.2428C>G (p.Leu810Val)
c.1324C>G (p.Leu442Val)
19g.12649147G>TCA404240908MAN2B1c.2425C>A (p.Leu809Met)
c.2422C>A (p.Leu808Met)
n.3015C>A
c.2428C>A (p.Leu810Met)
c.1324C>A (p.Leu442Met)
19g.12649148C>ACA505624425MAN2B1c.2424G>T (p.Ser808=)
c.2421G>T (p.Ser807=)
n.3014G>T
c.2427G>T (p.Ser809=)
c.1323G>T (p.Ser441=)
 gnomAD v4
19g.12649148C=CA2323499553MAN2B1c.2424G= (p.Ser808=)
c.2421G= (p.Ser807=)
n.3014G=
c.2427G= (p.Ser809=)
c.1323G= (p.Ser441=)
19g.12649148C>GCA505624426MAN2B1c.2424G>C (p.Ser808=)
c.2421G>C (p.Ser807=)
n.3014G>C
c.2427G>C (p.Ser809=)
c.1323G>C (p.Ser441=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12649148C>TCA9226040MAN2B1c.2424G>A (p.Ser808=)
c.2421G>A (p.Ser807=)
n.3014G>A
c.2427G>A (p.Ser809=)
c.1323G>A (p.Ser441=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649149G>ACA404240923MAN2B1c.2423C>T (p.Ser808Leu)
c.2420C>T (p.Ser807Leu)
n.3013C>T
c.2426C>T (p.Ser809Leu)
c.1322C>T (p.Ser441Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12649149G>CCA404240928MAN2B1c.2423C>G (p.Ser808Trp)
c.2420C>G (p.Ser807Trp)
n.3013C>G
c.2426C>G (p.Ser809Trp)
c.1322C>G (p.Ser441Trp)
19g.12649149G=CA2323499554MAN2B1c.2423C= (p.Ser808=)
c.2420C= (p.Ser807=)
n.3013C=
c.2426C= (p.Ser809=)
c.1322C= (p.Ser441=)
19g.12649149G>TCA404240933MAN2B1c.2423C>A (p.Ser808Ter)
c.2420C>A (p.Ser807Ter)
n.3013C>A
c.2426C>A (p.Ser809Ter)
c.1322C>A (p.Ser441Ter)
19g.12649150A=CA2323499555MAN2B1c.2422T= (p.Ser808=)
c.2419T= (p.Ser807=)
n.3012T=
c.2425T= (p.Ser809=)
c.1321T= (p.Ser441=)
19g.12649150A>CCA404240935MAN2B1c.2422T>G (p.Ser808Ala)
c.2419T>G (p.Ser807Ala)
n.3012T>G
c.2425T>G (p.Ser809Ala)
c.1321T>G (p.Ser441Ala)
19g.12649150A>GCA305461818MAN2B1c.2422T>C (p.Ser808Pro)
c.2419T>C (p.Ser807Pro)
n.3012T>C
c.2425T>C (p.Ser809Pro)
c.1321T>C (p.Ser441Pro)
 dbSNP
19g.12649150A>TCA404240941MAN2B1c.2422T>A (p.Ser808Thr)
c.2419T>A (p.Ser807Thr)
n.3012T>A
c.2425T>A (p.Ser809Thr)
c.1321T>A (p.Ser441Thr)
 dbSNP
19g.12649151G>ACA505624427MAN2B1c.2421C>T (p.Gly807=)
c.2418C>T (p.Gly806=)
n.3011C>T
c.2424C>T (p.Gly808=)
c.1320C>T (p.Gly440=)
 ClinVar dbSNP
19g.12649151G>CCA505624428MAN2B1c.2421C>G (p.Gly807=)
c.2418C>G (p.Gly806=)
n.3011C>G
c.2424C>G (p.Gly808=)
c.1320C>G (p.Gly440=)
 ClinVar dbSNP
19g.12649151G=CA2323499556MAN2B1c.2421C= (p.Gly807=)
c.2418C= (p.Gly806=)
n.3011C=
c.2424C= (p.Gly808=)
c.1320C= (p.Gly440=)
19g.12649151G>TCA505624429MAN2B1c.2421C>A (p.Gly807=)
c.2418C>A (p.Gly806=)
n.3011C>A
c.2424C>A (p.Gly808=)
c.1320C>A (p.Gly440=)
19g.12649152C>ACA404240945MAN2B1c.2420G>T (p.Gly807Val)
c.2417G>T (p.Gly806Val)
n.3010G>T
c.2423G>T (p.Gly808Val)
c.1319G>T (p.Gly440Val)
19g.12649152C>GCA404240950MAN2B1c.2420G>C (p.Gly807Ala)
c.2417G>C (p.Gly806Ala)
n.3010G>C
c.2423G>C (p.Gly808Ala)
c.1319G>C (p.Gly440Ala)
19g.12649152C>TCA404240948MAN2B1c.2420G>A (p.Gly807Asp)
c.2417G>A (p.Gly806Asp)
n.3010G>A
c.2423G>A (p.Gly808Asp)
c.1319G>A (p.Gly440Asp)
 gnomAD v4
19g.12649153C>ACA404240953MAN2B1c.2419G>T (p.Gly807Cys)
c.2416G>T (p.Gly806Cys)
n.3009G>T
c.2422G>T (p.Gly808Cys)
c.1318G>T (p.Gly440Cys)
19g.12649153C>GCA404240959MAN2B1c.2419G>C (p.Gly807Arg)
c.2416G>C (p.Gly806Arg)
n.3009G>C
c.2422G>C (p.Gly808Arg)
c.1318G>C (p.Gly440Arg)
19g.12649153C>TCA404240956MAN2B1c.2419G>A (p.Gly807Ser)
c.2416G>A (p.Gly806Ser)
n.3009G>A
c.2422G>A (p.Gly808Ser)
c.1318G>A (p.Gly440Ser)
 gnomAD v4
19g.12649154A>CCA404240961MAN2B1c.2418T>G (p.Asp806Glu)
c.2415T>G (p.Asp805Glu)
n.3008T>G
c.2421T>G (p.Asp807Glu)
c.1317T>G (p.Asp439Glu)
19g.12649154A>GCA505624430MAN2B1c.2418T>C (p.Asp806=)
c.2415T>C (p.Asp805=)
n.3008T>C
c.2421T>C (p.Asp807=)
c.1317T>C (p.Asp439=)
19g.12649154A>TCA404240965MAN2B1c.2418T>A (p.Asp806Glu)
c.2415T>A (p.Asp805Glu)
n.3008T>A
c.2421T>A (p.Asp807Glu)
c.1317T>A (p.Asp439Glu)
19g.12649154_12649158delinsATCTCCA2323499557MAN2B1c.2414_2418delinsGAGAT (p.Arg805=)
c.2411_2415delinsGAGAT (p.Arg804=)
n.3004_3008delinsGAGAT
c.2417_2421delinsGAGAT (p.Arg806=)
c.1313_1317delinsGAGAT (p.Arg438=)
19g.12649155T>ACA404240969MAN2B1c.2417A>T (p.Asp806Val)
c.2414A>T (p.Asp805Val)
n.3007A>T
c.2420A>T (p.Asp807Val)
c.1316A>T (p.Asp439Val)
19g.12649155T>CCA404240973MAN2B1c.2417A>G (p.Asp806Gly)
c.2414A>G (p.Asp805Gly)
n.3007A>G
c.2420A>G (p.Asp807Gly)
c.1316A>G (p.Asp439Gly)
19g.12649155T>GCA404240971MAN2B1c.2417A>C (p.Asp806Ala)
c.2414A>C (p.Asp805Ala)
n.3007A>C
c.2420A>C (p.Asp807Ala)
c.1316A>C (p.Asp439Ala)
19g.12649157_12649160delCA631832606MAN2B1c.2414_2417del (p.Arg805MetfsTer13)
c.2411_2414del (p.Arg804MetfsTer13)
n.3004_3007del
c.2417_2420del (p.Arg806MetfsTer13)
c.1313_1316del (p.Arg438MetfsTer13)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12649156C>ACA404240977MAN2B1c.2416G>T (p.Asp806Tyr)
c.2413G>T (p.Asp805Tyr)
n.3006G>T
c.2419G>T (p.Asp807Tyr)
c.1315G>T (p.Asp439Tyr)
19g.12649156C=CA2323499558MAN2B1c.2416G= (p.Asp806=)
c.2413G= (p.Asp805=)
n.3006G=
c.2419G= (p.Asp807=)
c.1315G= (p.Asp439=)
19g.12649156C>GCA404240981MAN2B1c.2416G>C (p.Asp806His)
c.2413G>C (p.Asp805His)
n.3006G>C
c.2419G>C (p.Asp807His)
c.1315G>C (p.Asp439His)
 gnomAD v4
19g.12649156C>TCA404240987MAN2B1c.2416G>A (p.Asp806Asn)
c.2413G>A (p.Asp805Asn)
n.3006G>A
c.2419G>A (p.Asp807Asn)
c.1315G>A (p.Asp439Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.12649157T>ACA404240989MAN2B1c.2415A>T (p.Arg805Ser)
c.2412A>T (p.Arg804Ser)
n.3005A>T
c.2418A>T (p.Arg806Ser)
c.1314A>T (p.Arg438Ser)
19g.12649157T>CCA505624431MAN2B1c.2415A>G (p.Arg805=)
c.2412A>G (p.Arg804=)
n.3005A>G
c.2418A>G (p.Arg806=)
c.1314A>G (p.Arg438=)
 ClinVar gnomAD v4
19g.12649157T>GCA404240991MAN2B1c.2415A>C (p.Arg805Ser)
c.2412A>C (p.Arg804Ser)
n.3005A>C
c.2418A>C (p.Arg806Ser)
c.1314A>C (p.Arg438Ser)
19g.12649158C>ACA404240993MAN2B1c.2414G>T (p.Arg805Ile)
c.2411G>T (p.Arg804Ile)
n.3004G>T
c.2417G>T (p.Arg806Ile)
c.1313G>T (p.Arg438Ile)
19g.12649158C=CA2323499559MAN2B1c.2414G= (p.Arg805=)
c.2411G= (p.Arg804=)
n.3004G=
c.2417G= (p.Arg806=)
c.1313G= (p.Arg438=)
19g.12649158C>GCA404240996MAN2B1c.2414G>C (p.Arg805Thr)
c.2411G>C (p.Arg804Thr)
n.3004G>C
c.2417G>C (p.Arg806Thr)
c.1313G>C (p.Arg438Thr)
 dbSNP gnomAD v4
19g.12649158C>TCA404240999MAN2B1c.2414G>A (p.Arg805Lys)
c.2411G>A (p.Arg804Lys)
n.3004G>A
c.2417G>A (p.Arg806Lys)
c.1313G>A (p.Arg438Lys)
19g.12649159T>ACA404241001MAN2B1c.2413A>T (p.Arg805Ter)
c.2410A>T (p.Arg804Ter)
n.3003A>T
c.2416A>T (p.Arg806Ter)
c.1312A>T (p.Arg438Ter)
19g.12649159T>CCA404241003MAN2B1c.2413A>G (p.Arg805Gly)
c.2410A>G (p.Arg804Gly)
n.3003A>G
c.2416A>G (p.Arg806Gly)
c.1312A>G (p.Arg438Gly)
19g.12649159T>GCA505624432MAN2B1c.2413A>C (p.Arg805=)
c.2410A>C (p.Arg804=)
n.3003A>C
c.2416A>C (p.Arg806=)
c.1312A>C (p.Arg438=)
19g.12649160C>ACA505624433MAN2B1c.2412G>T (p.Leu804=)
c.2409G>T (p.Leu803=)
n.3002G>T
c.2415G>T (p.Leu805=)
c.1311G>T (p.Leu437=)
19g.12649160C>GCA505624434MAN2B1c.2412G>C (p.Leu804=)
c.2409G>C (p.Leu803=)
n.3002G>C
c.2415G>C (p.Leu805=)
c.1311G>C (p.Leu437=)
19g.12649160C>TCA505624435MAN2B1c.2412G>A (p.Leu804=)
c.2409G>A (p.Leu803=)
n.3002G>A
c.2415G>A (p.Leu805=)
c.1311G>A (p.Leu437=)
19g.12649161A>CCA404241015MAN2B1c.2411T>G (p.Leu804Arg)
c.2408T>G (p.Leu803Arg)
n.3001T>G
c.2414T>G (p.Leu805Arg)
c.1310T>G (p.Leu437Arg)
19g.12649161A>GCA404241011MAN2B1c.2411T>C (p.Leu804Pro)
c.2408T>C (p.Leu803Pro)
n.3001T>C
c.2414T>C (p.Leu805Pro)
c.1310T>C (p.Leu437Pro)
19g.12649161A>TCA404241008MAN2B1c.2411T>A (p.Leu804Gln)
c.2408T>A (p.Leu803Gln)
n.3001T>A
c.2414T>A (p.Leu805Gln)
c.1310T>A (p.Leu437Gln)
19g.12649162G>ACA505624436MAN2B1c.2410C>T (p.Leu804=)
c.2407C>T (p.Leu803=)
n.3000C>T
c.2413C>T (p.Leu805=)
c.1309C>T (p.Leu437=)
19g.12649162G>CCA404241022MAN2B1c.2410C>G (p.Leu804Val)
c.2407C>G (p.Leu803Val)
n.3000C>G
c.2413C>G (p.Leu805Val)
c.1309C>G (p.Leu437Val)
 gnomAD v4
19g.12649162G>TCA404241024MAN2B1c.2410C>A (p.Leu804Met)
c.2407C>A (p.Leu803Met)
n.3000C>A
c.2413C>A (p.Leu805Met)
c.1309C>A (p.Leu437Met)
19g.12649163G>ACA9226041MAN2B1c.2409C>T (p.Ser803=)
c.2406C>T (p.Ser802=)
n.2999C>T
c.2412C>T (p.Ser804=)
c.1308C>T (p.Ser436=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649163G>CCA404241029MAN2B1c.2409C>G (p.Ser803Arg)
c.2406C>G (p.Ser802Arg)
n.2999C>G
c.2412C>G (p.Ser804Arg)
c.1308C>G (p.Ser436Arg)
19g.12649163G=CA2323499560MAN2B1c.2409C= (p.Ser803=)
c.2406C= (p.Ser802=)
n.2999C=
c.2412C= (p.Ser804=)
c.1308C= (p.Ser436=)
19g.12649163G>TCA404241033MAN2B1c.2409C>A (p.Ser803Arg)
c.2406C>A (p.Ser802Arg)
n.2999C>A
c.2412C>A (p.Ser804Arg)
c.1308C>A (p.Ser436Arg)
19g.12649168_12649170delCA2525780685MAN2B1c.2407_2409del (p.Ser803del)
c.2404_2406del (p.Ser802del)
n.2997_2999del
c.2410_2412del (p.Ser804del)
c.1306_1308del (p.Ser436del)
19g.12649164C>ACA404241037MAN2B1c.2408G>T (p.Ser803Ile)
c.2405G>T (p.Ser802Ile)
n.2998G>T
c.2411G>T (p.Ser804Ile)
c.1307G>T (p.Ser436Ile)
19g.12649164C>GCA404241038MAN2B1c.2408G>C (p.Ser803Thr)
c.2405G>C (p.Ser802Thr)
n.2998G>C
c.2411G>C (p.Ser804Thr)
c.1307G>C (p.Ser436Thr)
19g.12649164C>TCA404241041MAN2B1c.2408G>A (p.Ser803Asn)
c.2405G>A (p.Ser802Asn)
n.2998G>A
c.2411G>A (p.Ser804Asn)
c.1307G>A (p.Ser436Asn)
19g.12649165T>ACA404241049MAN2B1c.2407A>T (p.Ser803Cys)
c.2404A>T (p.Ser802Cys)
n.2997A>T
c.2410A>T (p.Ser804Cys)
c.1306A>T (p.Ser436Cys)
19g.12649165T>CCA404241052MAN2B1c.2407A>G (p.Ser803Gly)
c.2404A>G (p.Ser802Gly)
n.2997A>G
c.2410A>G (p.Ser804Gly)
c.1306A>G (p.Ser436Gly)
19g.12649165T>GCA404241054MAN2B1c.2407A>C (p.Ser803Arg)
c.2404A>C (p.Ser802Arg)
n.2997A>C
c.2410A>C (p.Ser804Arg)
c.1306A>C (p.Ser436Arg)
19g.12649166G>ACA505624437MAN2B1c.2406C>T (p.Ser802=)
c.2403C>T (p.Ser801=)
n.2996C>T
c.2409C>T (p.Ser803=)
c.1305C>T (p.Ser435=)
19g.12649166G>CCA404241059MAN2B1c.2406C>G (p.Ser802Arg)
c.2403C>G (p.Ser801Arg)
n.2996C>G
c.2409C>G (p.Ser803Arg)
c.1305C>G (p.Ser435Arg)
19g.12649166G>TCA404241056MAN2B1c.2406C>A (p.Ser802Arg)
c.2403C>A (p.Ser801Arg)
n.2996C>A
c.2409C>A (p.Ser803Arg)
c.1305C>A (p.Ser435Arg)
 gnomAD v4
19g.12649167C>ACA404241068MAN2B1c.2405G>T (p.Ser802Ile)
c.2402G>T (p.Ser801Ile)
n.2995G>T
c.2408G>T (p.Ser803Ile)
c.1304G>T (p.Ser435Ile)
19g.12649167C>GCA404241071MAN2B1c.2405G>C (p.Ser802Thr)
c.2402G>C (p.Ser801Thr)
n.2995G>C
c.2408G>C (p.Ser803Thr)
c.1304G>C (p.Ser435Thr)
19g.12649167C>TCA404241073MAN2B1c.2405G>A (p.Ser802Asn)
c.2402G>A (p.Ser801Asn)
n.2995G>A
c.2408G>A (p.Ser803Asn)
c.1304G>A (p.Ser435Asn)
19g.12649168T>ACA404241076MAN2B1c.2404A>T (p.Ser802Cys)
c.2401A>T (p.Ser801Cys)
n.2994A>T
c.2407A>T (p.Ser803Cys)
c.1303A>T (p.Ser435Cys)
19g.12649168T>CCA9226042MAN2B1c.2404A>G (p.Ser802Gly)
c.2401A>G (p.Ser801Gly)
n.2994A>G
c.2407A>G (p.Ser803Gly)
c.1303A>G (p.Ser435Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649168T>GCA404241080MAN2B1c.2404A>C (p.Ser802Arg)
c.2401A>C (p.Ser801Arg)
n.2994A>C
c.2407A>C (p.Ser803Arg)
c.1303A>C (p.Ser435Arg)
 gnomAD v4
19g.12649168T=CA2323499561MAN2B1c.2404A= (p.Ser802=)
c.2401A= (p.Ser801=)
n.2994A=
c.2407A= (p.Ser803=)
c.1303A= (p.Ser435=)
19g.12649169G>ACA505624438MAN2B1c.2403C>T (p.Gly801=)
c.2400C>T (p.Gly800=)
n.2993C>T
c.2406C>T (p.Gly802=)
c.1302C>T (p.Gly434=)
 gnomAD v4
19g.12649169G>CCA505624439MAN2B1c.2403C>G (p.Gly801=)
c.2400C>G (p.Gly800=)
n.2993C>G
c.2406C>G (p.Gly802=)
c.1302C>G (p.Gly434=)
19g.12649169G>TCA505624440MAN2B1c.2403C>A (p.Gly801=)
c.2400C>A (p.Gly800=)
n.2993C>A
c.2406C>A (p.Gly802=)
c.1302C>A (p.Gly434=)
19g.12649169_12649170delinsGCCA2323499562MAN2B1c.2402_2403delinsGC (p.Gly801=)
c.2399_2400delinsGC (p.Gly800=)
n.2992_2993delinsGC
c.2405_2406delinsGC (p.Gly802=)
c.1301_1302delinsGC (p.Gly434=)
19g.12649170C>ACA404241087MAN2B1c.2402G>T (p.Gly801Val)
c.2399G>T (p.Gly800Val)
n.2992G>T
c.2405G>T (p.Gly802Val)
c.1301G>T (p.Gly434Val)
 gnomAD v4
19g.12649170C=CA2323499563MAN2B1c.2402G= (p.Gly801=)
c.2399G= (p.Gly800=)
n.2992G=
c.2405G= (p.Gly802=)
c.1301G= (p.Gly434=)
19g.12649170C>GCA404241088MAN2B1c.2402G>C (p.Gly801Ala)
c.2399G>C (p.Gly800Ala)
n.2992G>C
c.2405G>C (p.Gly802Ala)
c.1301G>C (p.Gly434Ala)
19g.12649170C>TCA350919MAN2B1c.2402G>A (p.Gly801Asp)
c.2399G>A (p.Gly800Asp)
n.2992G>A
c.2405G>A (p.Gly802Asp)
c.1301G>A (p.Gly434Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12649175dupCA275096MAN2B1c.2402dup (p.Ser802GlnfsTer?)
c.2399dup (p.Ser801GlnfsTer?)
n.2992dup
c.2405dup (p.Ser803GlnfsTer?)
c.1301dup (p.Ser435GlnfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.12649175delCA631832610MAN2B1c.2402del (p.Gly801AlafsTer4)
c.2399del (p.Gly800AlafsTer4)
n.2992del
c.2405del (p.Gly802AlafsTer4)
c.1301del (p.Gly434AlafsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12649171C>ACA9226043MAN2B1c.2401G>T (p.Gly801Cys)
c.2398G>T (p.Gly800Cys)
n.2991G>T
c.2404G>T (p.Gly802Cys)
c.1300G>T (p.Gly434Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649171C=CA2323499564MAN2B1c.2401G= (p.Gly801=)
c.2398G= (p.Gly800=)
n.2991G=
c.2404G= (p.Gly802=)
c.1300G= (p.Gly434=)
19g.12649171C>GCA404241095MAN2B1c.2401G>C (p.Gly801Arg)
c.2398G>C (p.Gly800Arg)
n.2991G>C
c.2404G>C (p.Gly802Arg)
c.1300G>C (p.Gly434Arg)
19g.12649171C>TCA9226044MAN2B1c.2401G>A (p.Gly801Ser)
c.2398G>A (p.Gly800Ser)
n.2991G>A
c.2404G>A (p.Gly802Ser)
c.1300G>A (p.Gly434Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649172C>ACA505624443MAN2B1c.2400G>T (p.Gly800=)
c.2397G>T (p.Gly799=)
n.2990G>T
c.2403G>T (p.Gly801=)
c.1299G>T (p.Gly433=)
19g.12649172C>GCA505624441MAN2B1c.2400G>C (p.Gly800=)
c.2397G>C (p.Gly799=)
n.2990G>C
c.2403G>C (p.Gly801=)
c.1299G>C (p.Gly433=)
19g.12649172C>TCA505624442MAN2B1c.2400G>A (p.Gly800=)
c.2397G>A (p.Gly799=)
n.2990G>A
c.2403G>A (p.Gly801=)
c.1299G>A (p.Gly433=)
19g.12649173C>ACA404241104MAN2B1c.2399G>T (p.Gly800Val)
c.2396G>T (p.Gly799Val)
n.2989G>T
c.2402G>T (p.Gly801Val)
c.1298G>T (p.Gly433Val)
 gnomAD v4
19g.12649173C=CA2323499565MAN2B1c.2399G= (p.Gly800=)
c.2396G= (p.Gly799=)
n.2989G=
c.2402G= (p.Gly801=)
c.1298G= (p.Gly433=)
19g.12649173C>GCA404241099MAN2B1c.2399G>C (p.Gly800Ala)
c.2396G>C (p.Gly799Ala)
n.2989G>C
c.2402G>C (p.Gly801Ala)
c.1298G>C (p.Gly433Ala)
19g.12649173C>TCA404241101MAN2B1c.2399G>A (p.Gly800Glu)
c.2396G>A (p.Gly799Glu)
n.2989G>A
c.2402G>A (p.Gly801Glu)
c.1298G>A (p.Gly433Glu)
 dbSNP
19g.12649174C>ACA351030MAN2B1c.2398G>T (p.Gly800Trp)
c.2395G>T (p.Gly799Trp)
n.2988G>T
c.2401G>T (p.Gly801Trp)
c.1297G>T (p.Gly433Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12649174C=CA2323499566MAN2B1c.2398G= (p.Gly800=)
c.2395G= (p.Gly799=)
n.2988G=
c.2401G= (p.Gly801=)
c.1297G= (p.Gly433=)
19g.12649174C>GCA350963MAN2B1c.2398G>C (p.Gly800Arg)
c.2395G>C (p.Gly799Arg)
n.2988G>C
c.2401G>C (p.Gly801Arg)
c.1297G>C (p.Gly433Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.12649174C>TCA221083MAN2B1c.2398G>A (p.Gly800Arg)
c.2395G>A (p.Gly799Arg)
n.2988G>A
c.2401G>A (p.Gly801Arg)
c.1297G>A (p.Gly433Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649175C>ACA404241114MAN2B1c.2397G>T (p.Gln799His)
c.2394G>T (p.Gln798His)
n.2987G>T
c.2400G>T (p.Gln800His)
c.1296G>T (p.Gln432His)
 dbSNP gnomAD v4
19g.12649175C=CA2323499568MAN2B1c.2397G= (p.Gln799=)
c.2394G= (p.Gln798=)
n.2987G=
c.2400G= (p.Gln800=)
c.1296G= (p.Gln432=)
19g.12649175C>GCA404241121MAN2B1c.2397G>C (p.Gln799His)
c.2394G>C (p.Gln798His)
n.2987G>C
c.2400G>C (p.Gln800His)
c.1296G>C (p.Gln432His)
19g.12649175C>TCA505624444MAN2B1c.2397G>A (p.Gln799=)
c.2394G>A (p.Gln798=)
n.2987G>A
c.2400G>A (p.Gln800=)
c.1296G>A (p.Gln432=)
 ClinVar
19g.12649175_12649176delinsCTCA2323499567MAN2B1c.2396_2397delinsAG (p.Gln799=)
c.2393_2394delinsAG (p.Gln798=)
n.2986_2987delinsAG
c.2399_2400delinsAG (p.Gln800=)
c.1295_1296delinsAG (p.Gln432=)
19g.12649176delCA783385337MAN2B1c.2396del (p.Gln799ArgfsTer6)
c.2393del (p.Gln798ArgfsTer6)
n.2986del
c.2399del (p.Gln800ArgfsTer6)
c.1295del (p.Gln432ArgfsTer6)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.12649176T>ACA404241123MAN2B1c.2396A>T (p.Gln799Leu)
c.2393A>T (p.Gln798Leu)
n.2986A>T
c.2399A>T (p.Gln800Leu)
c.1295A>T (p.Gln432Leu)
19g.12649176T>CCA404241126MAN2B1c.2396A>G (p.Gln799Arg)
c.2393A>G (p.Gln798Arg)
n.2986A>G
c.2399A>G (p.Gln800Arg)
c.1295A>G (p.Gln432Arg)
19g.12649176T>GCA404241128MAN2B1c.2396A>C (p.Gln799Pro)
c.2393A>C (p.Gln798Pro)
n.2986A>C
c.2399A>C (p.Gln800Pro)
c.1295A>C (p.Gln432Pro)
19g.12649177G>ACA404241130MAN2B1c.2395C>T (p.Gln799Ter)
c.2392C>T (p.Gln798Ter)
n.2985C>T
c.2398C>T (p.Gln800Ter)
c.1294C>T (p.Gln432Ter)
19g.12649177G>CCA404241133MAN2B1c.2395C>G (p.Gln799Glu)
c.2392C>G (p.Gln798Glu)
n.2985C>G
c.2398C>G (p.Gln800Glu)
c.1294C>G (p.Gln432Glu)
19g.12649177G>TCA404241136MAN2B1c.2395C>A (p.Gln799Lys)
c.2392C>A (p.Gln798Lys)
n.2985C>A
c.2398C>A (p.Gln800Lys)
c.1294C>A (p.Gln432Lys)
19g.12649178G>ACA505624445MAN2B1c.2394C>T (p.Ser798=)
c.2391C>T (p.Ser797=)
n.2984C>T
c.2397C>T (p.Ser799=)
c.1293C>T (p.Ser431=)
 gnomAD v4
19g.12649178G>CCA9226045MAN2B1c.2394C>G (p.Ser798=)
c.2391C>G (p.Ser797=)
n.2984C>G
c.2397C>G (p.Ser799=)
c.1293C>G (p.Ser431=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649178G=CA2323499569MAN2B1c.2394C= (p.Ser798=)
c.2391C= (p.Ser797=)
n.2984C=
c.2397C= (p.Ser799=)
c.1293C= (p.Ser431=)
19g.12649178G>TCA505624446MAN2B1c.2394C>A (p.Ser798=)
c.2391C>A (p.Ser797=)
n.2984C>A
c.2397C>A (p.Ser799=)
c.1293C>A (p.Ser431=)
19g.12649179G>ACA404241149MAN2B1c.2393C>T (p.Ser798Phe)
c.2390C>T (p.Ser797Phe)
n.2983C>T
c.2396C>T (p.Ser799Phe)
c.1292C>T (p.Ser431Phe)
 gnomAD v4
19g.12649179G>CCA404241152MAN2B1c.2393C>G (p.Ser798Cys)
c.2390C>G (p.Ser797Cys)
n.2983C>G
c.2396C>G (p.Ser799Cys)
c.1292C>G (p.Ser431Cys)
19g.12649179G>TCA404241142MAN2B1c.2393C>A (p.Ser798Tyr)
c.2390C>A (p.Ser797Tyr)
n.2983C>A
c.2396C>A (p.Ser799Tyr)
c.1292C>A (p.Ser431Tyr)
19g.12649180A>CCA404241160MAN2B1c.2392T>G (p.Ser798Ala)
c.2389T>G (p.Ser797Ala)
n.2982T>G
c.2395T>G (p.Ser799Ala)
c.1291T>G (p.Ser431Ala)
19g.12649180A>GCA404241156MAN2B1c.2392T>C (p.Ser798Pro)
c.2389T>C (p.Ser797Pro)
n.2982T>C
c.2395T>C (p.Ser799Pro)
c.1291T>C (p.Ser431Pro)
19g.12649180A>TCA404241158MAN2B1c.2392T>A (p.Ser798Thr)
c.2389T>A (p.Ser797Thr)
n.2982T>A
c.2395T>A (p.Ser799Thr)
c.1291T>A (p.Ser431Thr)
19g.12649181G>ACA9226046MAN2B1c.2391C>T (p.Arg797=)
c.2388C>T (p.Arg796=)
n.2981C>T
c.2394C>T (p.Arg798=)
c.1290C>T (p.Arg430=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.12649181G>CCA505624447MAN2B1c.2391C>G (p.Arg797=)
c.2388C>G (p.Arg796=)
n.2981C>G
c.2394C>G (p.Arg798=)
c.1290C>G (p.Arg430=)
19g.12649181G=CA2323499570MAN2B1c.2391C= (p.Arg797=)
c.2388C= (p.Arg796=)
n.2981C=
c.2394C= (p.Arg798=)
c.1290C= (p.Arg430=)
19g.12649181G>TCA505624448MAN2B1c.2391C>A (p.Arg797=)
c.2388C>A (p.Arg796=)
n.2981C>A
c.2394C>A (p.Arg798=)
c.1290C>A (p.Arg430=)
19g.12649182C>ACA404241165MAN2B1c.2390G>T (p.Arg797Leu)
c.2387G>T (p.Arg796Leu)
n.2980G>T
c.2393G>T (p.Arg798Leu)
c.1289G>T (p.Arg430Leu)
 ClinVar dbSNP
19g.12649182C=CA2323499571MAN2B1c.2390G= (p.Arg797=)
c.2387G= (p.Arg796=)
n.2980G=
c.2393G= (p.Arg798=)
c.1289G= (p.Arg430=)
19g.12649182C>GCA404241168MAN2B1c.2390G>C (p.Arg797Pro)
c.2387G>C (p.Arg796Pro)
n.2980G>C
c.2393G>C (p.Arg798Pro)
c.1289G>C (p.Arg430Pro)
19g.12649182C>TCA305461842MAN2B1c.2390G>A (p.Arg797His)
c.2387G>A (p.Arg796His)
n.2980G>A
c.2393G>A (p.Arg798His)
c.1289G>A (p.Arg430His)
 ClinVar dbSNP gnomAD v4
19g.12649183G>ACA9226047MAN2B1c.2389C>T (p.Arg797Cys)
c.2386C>T (p.Arg796Cys)
n.2979C>T
c.2392C>T (p.Arg798Cys)
c.1288C>T (p.Arg430Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12649183G>CCA404241176MAN2B1c.2389C>G (p.Arg797Gly)
c.2386C>G (p.Arg796Gly)
n.2979C>G
c.2392C>G (p.Arg798Gly)
c.1288C>G (p.Arg430Gly)
 gnomAD v4
19g.12649183G=CA2323499572MAN2B1c.2389C= (p.Arg797=)
c.2386C= (p.Arg796=)
n.2979C=
c.2392C= (p.Arg798=)
c.1288C= (p.Arg430=)
19g.12649183G>TCA404241177MAN2B1c.2389C>A (p.Arg797Ser)
c.2386C>A (p.Arg796Ser)
n.2979C>A
c.2392C>A (p.Arg798Ser)
c.1288C>A (p.Arg430Ser)
 dbSNP
19g.12649184G>ACA505624449MAN2B1c.2388C>T (p.Asp796=)
c.2385C>T (p.Asp795=)
n.2978C>T
c.2391C>T (p.Asp797=)
c.1287C>T (p.Asp429=)
 ClinVar dbSNP gnomAD v4
19g.12649184G>CCA404241186MAN2B1c.2388C>G (p.Asp796Glu)
c.2385C>G (p.Asp795Glu)
n.2978C>G
c.2391C>G (p.Asp797Glu)
c.1287C>G (p.Asp429Glu)
19g.12649184G>TCA404241189MAN2B1c.2388C>A (p.Asp796Glu)
c.2385C>A (p.Asp795Glu)
n.2978C>A
c.2391C>A (p.Asp797Glu)
c.1287C>A (p.Asp429Glu)
19g.12649185T>ACA404241198MAN2B1c.2387A>T (p.Asp796Val)
c.2384A>T (p.Asp795Val)
n.2977A>T
c.2390A>T (p.Asp797Val)
c.1286A>T (p.Asp429Val)
19g.12649185T>CCA404241195MAN2B1c.2387A>G (p.Asp796Gly)
c.2384A>G (p.Asp795Gly)
n.2977A>G
c.2390A>G (p.Asp797Gly)
c.1286A>G (p.Asp429Gly)
19g.12649185T>GCA404241192MAN2B1c.2387A>C (p.Asp796Ala)
c.2384A>C (p.Asp795Ala)
n.2977A>C
c.2390A>C (p.Asp797Ala)
c.1286A>C (p.Asp429Ala)
19g.12649186C>ACA404241201MAN2B1c.2386G>T (p.Asp796Tyr)
c.2383G>T (p.Asp795Tyr)
n.2976G>T
c.2389G>T (p.Asp797Tyr)
c.1285G>T (p.Asp429Tyr)
 gnomAD v4
19g.12649186C>GCA404241204MAN2B1c.2386G>C (p.Asp796His)
c.2383G>C (p.Asp795His)
n.2976G>C
c.2389G>C (p.Asp797His)
c.1285G>C (p.Asp429His)
19g.12649186C>TCA404241207MAN2B1c.2386G>A (p.Asp796Asn)
c.2383G>A (p.Asp795Asn)
n.2976G>A
c.2389G>A (p.Asp797Asn)
c.1285G>A (p.Asp429Asn)
 gnomAD v4
19g.12649187A>CCA505624450MAN2B1c.2385T>G (p.Thr795=)
c.2382T>G (p.Thr794=)
n.2975T>G
c.2388T>G (p.Thr796=)
c.1284T>G (p.Thr428=)
19g.12649187A>GCA505624451MAN2B1c.2385T>C (p.Thr795=)
c.2382T>C (p.Thr794=)
n.2975T>C
c.2388T>C (p.Thr796=)
c.1284T>C (p.Thr428=)
19g.12649187A>TCA505624452MAN2B1c.2385T>A (p.Thr795=)
c.2382T>A (p.Thr794=)
n.2975T>A
c.2388T>A (p.Thr796=)
c.1284T>A (p.Thr428=)
19g.12649188G>ACA404241208MAN2B1c.2384C>T (p.Thr795Ile)
c.2381C>T (p.Thr794Ile)
n.2974C>T
c.2387C>T (p.Thr796Ile)
c.1283C>T (p.Thr428Ile)
19g.12649188G>CCA9226048MAN2B1c.2384C>G (p.Thr795Ser)
c.2381C>G (p.Thr794Ser)
n.2974C>G
c.2387C>G (p.Thr796Ser)
c.1283C>G (p.Thr428Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649188G=CA2323499573MAN2B1c.2384C= (p.Thr795=)
c.2381C= (p.Thr794=)
n.2974C=
c.2387C= (p.Thr796=)
c.1283C= (p.Thr428=)
19g.12649188G>TCA404241209MAN2B1c.2384C>A (p.Thr795Asn)
c.2381C>A (p.Thr794Asn)
n.2974C>A
c.2387C>A (p.Thr796Asn)
c.1283C>A (p.Thr428Asn)
19g.12649189T>ACA404241210MAN2B1c.2383A>T (p.Thr795Ser)
c.2380A>T (p.Thr794Ser)
n.2973A>T
c.2386A>T (p.Thr796Ser)
c.1282A>T (p.Thr428Ser)
19g.12649189T>CCA404241213MAN2B1c.2383A>G (p.Thr795Ala)
c.2380A>G (p.Thr794Ala)
n.2973A>G
c.2386A>G (p.Thr796Ala)
c.1282A>G (p.Thr428Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.12649189T>GCA9226049MAN2B1c.2383A>C (p.Thr795Pro)
c.2380A>C (p.Thr794Pro)
n.2973A>C
c.2386A>C (p.Thr796Pro)
c.1282A>C (p.Thr428Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649189T=CA2323499574MAN2B1c.2383A= (p.Thr795=)
c.2380A= (p.Thr794=)
n.2973A=
c.2386A= (p.Thr796=)
c.1282A= (p.Thr428=)
19g.12649190C>ACA505624453MAN2B1c.2382G>T (p.Leu794=)
c.2379G>T (p.Leu793=)
n.2972G>T
c.2385G>T (p.Leu795=)
c.1281G>T (p.Leu427=)
19g.12649190C>GCA505624454MAN2B1c.2382G>C (p.Leu794=)
c.2379G>C (p.Leu793=)
n.2972G>C
c.2385G>C (p.Leu795=)
c.1281G>C (p.Leu427=)
19g.12649190C>TCA505624455MAN2B1c.2382G>A (p.Leu794=)
c.2379G>A (p.Leu793=)
n.2972G>A
c.2385G>A (p.Leu795=)
c.1281G>A (p.Leu427=)
 ClinVar
19g.12649191A>CCA404241221MAN2B1c.2381T>G (p.Leu794Arg)
c.2378T>G (p.Leu793Arg)
n.2971T>G
c.2384T>G (p.Leu795Arg)
c.1280T>G (p.Leu427Arg)
19g.12649191A>GCA404241223MAN2B1c.2381T>C (p.Leu794Pro)
c.2378T>C (p.Leu793Pro)
n.2971T>C
c.2384T>C (p.Leu795Pro)
c.1280T>C (p.Leu427Pro)
19g.12649191A>TCA404241225MAN2B1c.2381T>A (p.Leu794Gln)
c.2378T>A (p.Leu793Gln)
n.2971T>A
c.2384T>A (p.Leu795Gln)
c.1280T>A (p.Leu427Gln)
19g.12649192G>ACA9226050MAN2B1c.2380C>T (p.Leu794=)
c.2377C>T (p.Leu793=)
n.2970C>T
c.2383C>T (p.Leu795=)
c.1279C>T (p.Leu427=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649192G>CCA404241231MAN2B1c.2380C>G (p.Leu794Val)
c.2377C>G (p.Leu793Val)
n.2970C>G
c.2383C>G (p.Leu795Val)
c.1279C>G (p.Leu427Val)
19g.12649192G=CA2323499575MAN2B1c.2380C= (p.Leu794=)
c.2377C= (p.Leu793=)
n.2970C=
c.2383C= (p.Leu795=)
c.1279C= (p.Leu427=)
19g.12649192G>TCA404241228MAN2B1c.2380C>A (p.Leu794Met)
c.2377C>A (p.Leu793Met)
n.2970C>A
c.2383C>A (p.Leu795Met)
c.1279C>A (p.Leu427Met)
19g.12649193C>ACA505624458MAN2B1c.2379G>T (p.Val793=)
c.2376G>T (p.Val792=)
n.2969G>T
c.2382G>T (p.Val794=)
c.1278G>T (p.Val426=)
19g.12649193C>GCA505624457MAN2B1c.2379G>C (p.Val793=)
c.2376G>C (p.Val792=)
n.2969G>C
c.2382G>C (p.Val794=)
c.1278G>C (p.Val426=)
19g.12649193C>TCA505624456MAN2B1c.2379G>A (p.Val793=)
c.2376G>A (p.Val792=)
n.2969G>A
c.2382G>A (p.Val794=)
c.1278G>A (p.Val426=)
19g.12649194A>CCA404241234MAN2B1c.2378T>G (p.Val793Gly)
c.2375T>G (p.Val792Gly)
n.2968T>G
c.2381T>G (p.Val794Gly)
c.1277T>G (p.Val426Gly)
19g.12649194A>GCA404241236MAN2B1c.2378T>C (p.Val793Ala)
c.2375T>C (p.Val792Ala)
n.2968T>C
c.2381T>C (p.Val794Ala)
c.1277T>C (p.Val426Ala)
19g.12649194A>TCA404241238MAN2B1c.2378T>A (p.Val793Glu)
c.2375T>A (p.Val792Glu)
n.2968T>A
c.2381T>A (p.Val794Glu)
c.1277T>A (p.Val426Glu)
19g.12649195C>ACA404241241MAN2B1c.2377G>T (p.Val793Leu)
c.2374G>T (p.Val792Leu)
n.2967G>T
c.2380G>T (p.Val794Leu)
c.1276G>T (p.Val426Leu)
19g.12649195C=CA2323499576MAN2B1c.2377G= (p.Val793=)
c.2374G= (p.Val792=)
n.2967G=
c.2380G= (p.Val794=)
c.1276G= (p.Val426=)
19g.12649195C>GCA9226051MAN2B1c.2377G>C (p.Val793Leu)
c.2374G>C (p.Val792Leu)
n.2967G>C
c.2380G>C (p.Val794Leu)
c.1276G>C (p.Val426Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649195C>TCA404241243MAN2B1c.2377G>A (p.Val793Met)
c.2374G>A (p.Val792Met)
n.2967G>A
c.2380G>A (p.Val794Met)
c.1276G>A (p.Val426Met)
 gnomAD v4
19g.12649196A>CCA505624459MAN2B1c.2376T>G (p.Thr792=)
c.2373T>G (p.Thr791=)
n.2966T>G
c.2379T>G (p.Thr793=)
c.1275T>G (p.Thr425=)
 ClinVar gnomAD v4
19g.12649196A>GCA505624460MAN2B1c.2376T>C (p.Thr792=)
c.2373T>C (p.Thr791=)
n.2966T>C
c.2379T>C (p.Thr793=)
c.1275T>C (p.Thr425=)
19g.12649196A>TCA505624461MAN2B1c.2376T>A (p.Thr792=)
c.2373T>A (p.Thr791=)
n.2966T>A
c.2379T>A (p.Thr793=)
c.1275T>A (p.Thr425=)
 gnomAD v4
19g.12649197G>ACA404241246MAN2B1c.2375C>T (p.Thr792Ile)
c.2372C>T (p.Thr791Ile)
n.2965C>T
c.2378C>T (p.Thr793Ile)
c.1274C>T (p.Thr425Ile)
19g.12649197G>CCA404241247MAN2B1c.2375C>G (p.Thr792Ser)
c.2372C>G (p.Thr791Ser)
n.2965C>G
c.2378C>G (p.Thr793Ser)
c.1274C>G (p.Thr425Ser)
19g.12649197G>TCA404241249MAN2B1c.2375C>A (p.Thr792Asn)
c.2372C>A (p.Thr791Asn)
n.2965C>A
c.2378C>A (p.Thr793Asn)
c.1274C>A (p.Thr425Asn)
19g.12649198T>ACA9226053MAN2B1c.2374A>T (p.Thr792Ser)
c.2371A>T (p.Thr791Ser)
n.2964A>T
c.2377A>T (p.Thr793Ser)
c.1273A>T (p.Thr425Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649198T>CCA404241252MAN2B1c.2374A>G (p.Thr792Ala)
c.2371A>G (p.Thr791Ala)
n.2964A>G
c.2377A>G (p.Thr793Ala)
c.1273A>G (p.Thr425Ala)
19g.12649198T>GCA404241254MAN2B1c.2374A>C (p.Thr792Pro)
c.2371A>C (p.Thr791Pro)
n.2964A>C
c.2377A>C (p.Thr793Pro)
c.1273A>C (p.Thr425Pro)
19g.12649198T=CA2323499578MAN2B1c.2374A= (p.Thr792=)
c.2371A= (p.Thr791=)
n.2964A=
c.2377A= (p.Thr793=)
c.1273A= (p.Thr425=)
19g.12649198_12649199delinsTCCA2323499577MAN2B1c.2373_2374delinsGA (p.Leu791=)
c.2370_2371delinsGA (p.Leu790=)
n.2963_2964delinsGA
c.2376_2377delinsGA (p.Leu792=)
c.1272_1273delinsGA (p.Leu424=)
19g.12649199delCA9226052MAN2B1c.2373del (p.Thr792LeufsTer3)
c.2370del (p.Thr791LeufsTer3)
n.2963del
c.2376del (p.Thr793LeufsTer3)
c.1272del (p.Thr425LeufsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12649199C>ACA505624463MAN2B1c.2373G>T (p.Leu791=)
c.2370G>T (p.Leu790=)
n.2963G>T
c.2376G>T (p.Leu792=)
c.1272G>T (p.Leu424=)
19g.12649199C>GCA505624462MAN2B1c.2373G>C (p.Leu791=)
c.2370G>C (p.Leu790=)
n.2963G>C
c.2376G>C (p.Leu792=)
c.1272G>C (p.Leu424=)
 gnomAD v4
19g.12649199C>TCA505624464MAN2B1c.2373G>A (p.Leu791=)
c.2370G>A (p.Leu790=)
n.2963G>A
c.2376G>A (p.Leu792=)
c.1272G>A (p.Leu424=)
 dbSNP gnomAD v4
19g.12649200A>CCA404241261MAN2B1c.2372T>G (p.Leu791Arg)
c.2369T>G (p.Leu790Arg)
n.2962T>G
c.2375T>G (p.Leu792Arg)
c.1271T>G (p.Leu424Arg)
19g.12649200A>GCA404241259MAN2B1c.2372T>C (p.Leu791Pro)
c.2369T>C (p.Leu790Pro)
n.2962T>C
c.2375T>C (p.Leu792Pro)
c.1271T>C (p.Leu424Pro)
19g.12649200A>TCA404241257MAN2B1c.2372T>A (p.Leu791Gln)
c.2369T>A (p.Leu790Gln)
n.2962T>A
c.2375T>A (p.Leu792Gln)
c.1271T>A (p.Leu424Gln)
19g.12649201G>ACA505624465MAN2B1c.2371C>T (p.Leu791=)
c.2368C>T (p.Leu790=)
n.2961C>T
c.2374C>T (p.Leu792=)
c.1270C>T (p.Leu424=)
 dbSNP gnomAD v3 gnomAD v4
19g.12649201G>CCA404241264MAN2B1c.2371C>G (p.Leu791Val)
c.2368C>G (p.Leu790Val)
n.2961C>G
c.2374C>G (p.Leu792Val)
c.1270C>G (p.Leu424Val)
19g.12649201G=CA2323499579MAN2B1c.2371C= (p.Leu791=)
c.2368C= (p.Leu790=)
n.2961C=
c.2374C= (p.Leu792=)
c.1270C= (p.Leu424=)
19g.12649201G>TCA404241267MAN2B1c.2371C>A (p.Leu791Met)
c.2368C>A (p.Leu790Met)
n.2961C>A
c.2374C>A (p.Leu792Met)
c.1270C>A (p.Leu424Met)
19g.12649202C>ACA404241270MAN2B1c.2370G>T (p.Gln790His)
c.2367G>T (p.Gln789His)
n.2960G>T
c.2373G>T (p.Gln791His)
c.1269G>T (p.Gln423His)
19g.12649202C>GCA404241272MAN2B1c.2370G>C (p.Gln790His)
c.2367G>C (p.Gln789His)
n.2960G>C
c.2373G>C (p.Gln791His)
c.1269G>C (p.Gln423His)
19g.12649202C>TCA505624466MAN2B1c.2370G>A (p.Gln790=)
c.2367G>A (p.Gln789=)
n.2960G>A
c.2373G>A (p.Gln791=)
c.1269G>A (p.Gln423=)
19g.12649203T>ACA404241275MAN2B1c.2369A>T (p.Gln790Leu)
c.2366A>T (p.Gln789Leu)
n.2959A>T
c.2372A>T (p.Gln791Leu)
c.1268A>T (p.Gln423Leu)
19g.12649203T>CCA404241278MAN2B1c.2369A>G (p.Gln790Arg)
c.2366A>G (p.Gln789Arg)
n.2959A>G
c.2372A>G (p.Gln791Arg)
c.1268A>G (p.Gln423Arg)
19g.12649203T>GCA404241280MAN2B1c.2369A>C (p.Gln790Pro)
c.2366A>C (p.Gln789Pro)
n.2959A>C
c.2372A>C (p.Gln791Pro)
c.1268A>C (p.Gln423Pro)
19g.12649204G>ACA404241283MAN2B1c.2368C>T (p.Gln790Ter)
c.2365C>T (p.Gln789Ter)
n.2958C>T
c.2371C>T (p.Gln791Ter)
c.1267C>T (p.Gln423Ter)
19g.12649204G>CCA404241284MAN2B1c.2368C>G (p.Gln790Glu)
c.2365C>G (p.Gln789Glu)
n.2958C>G
c.2371C>G (p.Gln791Glu)
c.1267C>G (p.Gln423Glu)
19g.12649204G>TCA404241285MAN2B1c.2368C>A (p.Gln790Lys)
c.2365C>A (p.Gln789Lys)
n.2958C>A
c.2371C>A (p.Gln791Lys)
c.1267C>A (p.Gln423Lys)
19g.12649205C>ACA404241287MAN2B1c.2367G>T (p.Met789Ile)
c.2364G>T (p.Met788Ile)
n.2957G>T
c.2370G>T (p.Met790Ile)
c.1266G>T (p.Met422Ile)
19g.12649205C>GCA404241289MAN2B1c.2367G>C (p.Met789Ile)
c.2364G>C (p.Met788Ile)
n.2957G>C
c.2370G>C (p.Met790Ile)
c.1266G>C (p.Met422Ile)
19g.12649205C>TCA404241291MAN2B1c.2367G>A (p.Met789Ile)
c.2364G>A (p.Met788Ile)
n.2957G>A
c.2370G>A (p.Met790Ile)
c.1266G>A (p.Met422Ile)
19g.12649206A=CA2323499580MAN2B1c.2366T= (p.Met789=)
c.2363T= (p.Met788=)
n.2956T=
c.2369T= (p.Met790=)
c.1265T= (p.Met422=)
19g.12649206A>CCA404241299MAN2B1c.2366T>G (p.Met789Arg)
c.2363T>G (p.Met788Arg)
n.2956T>G
c.2369T>G (p.Met790Arg)
c.1265T>G (p.Met422Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.12649206A>GCA404241296MAN2B1c.2366T>C (p.Met789Thr)
c.2363T>C (p.Met788Thr)
n.2956T>C
c.2369T>C (p.Met790Thr)
c.1265T>C (p.Met422Thr)
19g.12649206A>TCA404241294MAN2B1c.2366T>A (p.Met789Lys)
c.2363T>A (p.Met788Lys)
n.2956T>A
c.2369T>A (p.Met790Lys)
c.1265T>A (p.Met422Lys)
19g.12649207T>ACA404241302MAN2B1c.2365A>T (p.Met789Leu)
c.2362A>T (p.Met788Leu)
n.2955A>T
c.2368A>T (p.Met790Leu)
c.1264A>T (p.Met422Leu)
19g.12649207T>CCA404241306MAN2B1c.2365A>G (p.Met789Val)
c.2362A>G (p.Met788Val)
n.2955A>G
c.2368A>G (p.Met790Val)
c.1264A>G (p.Met422Val)
 gnomAD v4
19g.12649207T>GCA404241304MAN2B1c.2365A>C (p.Met789Leu)
c.2362A>C (p.Met788Leu)
n.2955A>C
c.2368A>C (p.Met790Leu)
c.1264A>C (p.Met422Leu)
19g.12649208G>ACA505624467MAN2B1c.2364C>T (p.Asn788=)
c.2361C>T (p.Asn787=)
n.2954C>T
c.2367C>T (p.Asn789=)
c.1263C>T (p.Asn421=)
 gnomAD v4
19g.12649208G>CCA404241309MAN2B1c.2364C>G (p.Asn788Lys)
c.2361C>G (p.Asn787Lys)
n.2954C>G
c.2367C>G (p.Asn789Lys)
c.1263C>G (p.Asn421Lys)
19g.12649208G=CA2323499581MAN2B1c.2364C= (p.Asn788=)
c.2361C= (p.Asn787=)
n.2954C=
c.2367C= (p.Asn789=)
c.1263C= (p.Asn421=)
19g.12649208G>TCA404241312MAN2B1c.2364C>A (p.Asn788Lys)
c.2361C>A (p.Asn787Lys)
n.2954C>A
c.2367C>A (p.Asn789Lys)
c.1263C>A (p.Asn421Lys)
 dbSNP
19g.12649209T>ACA404241316MAN2B1c.2363A>T (p.Asn788Ile)
c.2360A>T (p.Asn787Ile)
n.2953A>T
c.2366A>T (p.Asn789Ile)
c.1262A>T (p.Asn421Ile)
19g.12649209T>CCA404241319MAN2B1c.2363A>G (p.Asn788Ser)
c.2360A>G (p.Asn787Ser)
n.2953A>G
c.2366A>G (p.Asn789Ser)
c.1262A>G (p.Asn421Ser)
19g.12649209T>GCA404241323MAN2B1c.2363A>C (p.Asn788Thr)
c.2360A>C (p.Asn787Thr)
n.2953A>C
c.2366A>C (p.Asn789Thr)
c.1262A>C (p.Asn421Thr)
19g.12649210T>ACA404241459MAN2B1c.2362A>T (p.Asn788Tyr)
c.2359A>T (p.Asn787Tyr)
n.2952A>T
c.2365A>T (p.Asn789Tyr)
c.1261A>T (p.Asn421Tyr)
 COSMIC
19g.12649210T>CCA404241460MAN2B1c.2362A>G (p.Asn788Asp)
c.2359A>G (p.Asn787Asp)
n.2952A>G
c.2365A>G (p.Asn789Asp)
c.1261A>G (p.Asn421Asp)
19g.12649210T>GCA404241461MAN2B1c.2362A>C (p.Asn788His)
c.2359A>C (p.Asn787His)
n.2952A>C
c.2365A>C (p.Asn789His)
c.1261A>C (p.Asn421His)
19g.12649211T>ACA505624468MAN2B1c.2361A>T (p.Gly787=)
c.2358A>T (p.Gly786=)
n.2951A>T
c.2364A>T (p.Gly788=)
c.1260A>T (p.Gly420=)
19g.12649211T>CCA305461896MAN2B1c.2361A>G (p.Gly787=)
c.2358A>G (p.Gly786=)
n.2951A>G
c.2364A>G (p.Gly788=)
c.1260A>G (p.Gly420=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12649211T>GCA505624469MAN2B1c.2361A>C (p.Gly787=)
c.2358A>C (p.Gly786=)
n.2951A>C
c.2364A>C (p.Gly788=)
c.1260A>C (p.Gly420=)
19g.12649211T=CA2323499582MAN2B1c.2361A= (p.Gly787=)
c.2358A= (p.Gly786=)
n.2951A=
c.2364A= (p.Gly788=)
c.1260A= (p.Gly420=)
19g.12649212C>ACA404241463MAN2B1c.2360G>T (p.Gly787Val)
c.2357G>T (p.Gly786Val)
n.2950G>T
c.2363G>T (p.Gly788Val)
c.1259G>T (p.Gly420Val)
19g.12649212C>GCA404241464MAN2B1c.2360G>C (p.Gly787Ala)
c.2357G>C (p.Gly786Ala)
n.2950G>C
c.2363G>C (p.Gly788Ala)
c.1259G>C (p.Gly420Ala)
19g.12649212C>TCA404241466MAN2B1c.2360G>A (p.Gly787Glu)
c.2357G>A (p.Gly786Glu)
n.2950G>A
c.2363G>A (p.Gly788Glu)
c.1259G>A (p.Gly420Glu)
19g.12649213C>ACA404241468MAN2B1c.2359G>T (p.Gly787Ter)
c.2356G>T (p.Gly786Ter)
n.2949G>T
c.2362G>T (p.Gly788Ter)
c.1258G>T (p.Gly420Ter)
19g.12649213C=CA2323499583MAN2B1c.2359G= (p.Gly787=)
c.2356G= (p.Gly786=)
n.2949G=
c.2362G= (p.Gly788=)
c.1258G= (p.Gly420=)
19g.12649213C>GCA404241470MAN2B1c.2359G>C (p.Gly787Arg)
c.2356G>C (p.Gly786Arg)
n.2949G>C
c.2362G>C (p.Gly788Arg)
c.1258G>C (p.Gly420Arg)
19g.12649213C>TCA404241471MAN2B1c.2359G>A (p.Gly787Arg)
c.2356G>A (p.Gly786Arg)
n.2949G>A
c.2362G>A (p.Gly788Arg)
c.1258G>A (p.Gly420Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.12649214A>CCA404241474MAN2B1c.2358T>G (p.Asp786Glu)
c.2355T>G (p.Asp785Glu)
n.2948T>G
c.2361T>G (p.Asp787Glu)
c.1257T>G (p.Asp419Glu)
19g.12649214A>GCA505624470MAN2B1c.2358T>C (p.Asp786=)
c.2355T>C (p.Asp785=)
n.2948T>C
c.2361T>C (p.Asp787=)
c.1257T>C (p.Asp419=)
19g.12649214A>TCA404241473MAN2B1c.2358T>A (p.Asp786Glu)
c.2355T>A (p.Asp785Glu)
n.2948T>A
c.2361T>A (p.Asp787Glu)
c.1257T>A (p.Asp419Glu)
19g.12649215T>ACA404241475MAN2B1c.2357A>T (p.Asp786Val)
c.2354A>T (p.Asp785Val)
n.2947A>T
c.2360A>T (p.Asp787Val)
c.1256A>T (p.Asp419Val)
19g.12649215T>CCA404241477MAN2B1c.2357A>G (p.Asp786Gly)
c.2354A>G (p.Asp785Gly)
n.2947A>G
c.2360A>G (p.Asp787Gly)
c.1256A>G (p.Asp419Gly)
19g.12649215T>GCA404241478MAN2B1c.2357A>C (p.Asp786Ala)
c.2354A>C (p.Asp785Ala)
n.2947A>C
c.2360A>C (p.Asp787Ala)
c.1256A>C (p.Asp419Ala)
19g.12649216C>ACA404241480MAN2B1c.2356G>T (p.Asp786Tyr)
c.2353G>T (p.Asp785Tyr)
n.2946G>T
c.2359G>T (p.Asp787Tyr)
c.1255G>T (p.Asp419Tyr)
19g.12649216C>GCA404241482MAN2B1c.2356G>C (p.Asp786His)
c.2353G>C (p.Asp785His)
n.2946G>C
c.2359G>C (p.Asp787His)
c.1255G>C (p.Asp419His)
19g.12649216C>TCA404241483MAN2B1c.2356G>A (p.Asp786Asn)
c.2353G>A (p.Asp785Asn)
n.2946G>A
c.2359G>A (p.Asp787Asn)
c.1255G>A (p.Asp419Asn)
19g.12649217C>ACA404241484MAN2B1c.2356-1G>T (n.2356-1G>T)
c.2353-1G>T (n.2353-1G>T)
n.2946-1G>T
c.2359-1G>T (n.2359-1G>T)
c.1255-1G>T (n.1255-1G>T)
19g.12649217C>GCA404241486MAN2B1c.2356-1G>C (n.2356-1G>C)
c.2353-1G>C (n.2353-1G>C)
n.2946-1G>C
c.2359-1G>C (n.2359-1G>C)
c.1255-1G>C (n.1255-1G>C)
19g.12649217C>TCA404241488MAN2B1c.2356-1G>A (n.2356-1G>A)
c.2353-1G>A (n.2353-1G>A)
n.2946-1G>A
c.2359-1G>A (n.2359-1G>A)
c.1255-1G>A (n.1255-1G>A)
19g.12649218T>ACA404241490MAN2B1c.2356-2A>T (n.2356-2A>T)
c.2353-2A>T (n.2353-2A>T)
n.2946-2A>T
c.2359-2A>T (n.2359-2A>T)
c.1255-2A>T (n.1255-2A>T)
19g.12649218T>CCA16620767MAN2B1c.2356-2A>G (n.2356-2A>G)
c.2353-2A>G (n.2353-2A>G)
n.2946-2A>G
c.2359-2A>G (n.2359-2A>G)
c.1255-2A>G (n.1255-2A>G)
 ClinVar dbSNP
19g.12649218T>GCA404241491MAN2B1c.2356-2A>C (n.2356-2A>C)
c.2353-2A>C (n.2353-2A>C)
n.2946-2A>C
c.2359-2A>C (n.2359-2A>C)
c.1255-2A>C (n.1255-2A>C)
19g.12649218T=CA2323499584MAN2B1c.2356-2A= (n.2356-2A=)
c.2353-2A= (n.2353-2A=)
n.2946-2A=
c.2359-2A= (n.2359-2A=)
c.1255-2A= (n.1255-2A=)
19g.12649219G=CA2323499585MAN2B1c.2356-3C= (n.2356-3C=)
c.2353-3C= (n.2353-3C=)
n.2946-3C=
c.2359-3C= (n.2359-3C=)
c.1255-3C= (n.1255-3C=)
19g.12649219G>TCA631832636MAN2B1c.2356-3C>A (n.2356-3C>A)
c.2353-3C>A (n.2353-3C>A)
n.2946-3C>A
c.2359-3C>A (n.2359-3C>A)
c.1255-3C>A (n.1255-3C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12649221delCA2735733640MAN2B1c.2356-3del (n.2356-3del)
c.2353-3del (n.2353-3del)
n.2946-3del
c.2359-3del (n.2359-3del)
c.1255-3del (n.1255-3del)
 dbSNP
19g.12649220G>ACA645607530MAN2B1c.2356-4C>T (n.2356-4C>T)
c.2353-4C>T (n.2353-4C>T)
n.2946-4C>T
c.2359-4C>T (n.2359-4C>T)
c.1255-4C>T (n.1255-4C>T)
 COSMIC
19g.12649220G>TCA2499225364MAN2B1c.2356-4C>A (n.2356-4C>A)
c.2353-4C>A (n.2353-4C>A)
n.2946-4C>A
c.2359-4C>A (n.2359-4C>A)
c.1255-4C>A (n.1255-4C>A)
 ClinVar dbSNP
19g.12649221G>ACA2582717945MAN2B1c.2356-5C>T (n.2356-5C>T)
c.2353-5C>T (n.2353-5C>T)
n.2946-5C>T
c.2359-5C>T (n.2359-5C>T)
c.1255-5C>T (n.1255-5C>T)
 gnomAD v4
19g.12649221G>CCA2697556353MAN2B1c.2356-5C>G (n.2356-5C>G)
c.2353-5C>G (n.2353-5C>G)
n.2946-5C>G
c.2359-5C>G (n.2359-5C>G)
c.1255-5C>G (n.1255-5C>G)
 ClinVar
19g.12649222A=CA2323499586MAN2B1c.2356-6T= (n.2356-6T=)
c.2353-6T= (n.2353-6T=)
n.2946-6T=
c.2359-6T= (n.2359-6T=)
c.1255-6T= (n.1255-6T=)
19g.12649222A>GCA2323499587MAN2B1c.2356-6T>C (n.2356-6T>C)
c.2353-6T>C (n.2353-6T>C)
n.2946-6T>C
c.2359-6T>C (n.2359-6T>C)
c.1255-6T>C (n.1255-6T>C)
 dbSNP
19g.12649222_12649223insACATCA631832638MAN2B1c.2356-7_2356-6insATGT (n.2356-7_2356-6insATGT)
c.2353-7_2353-6insATGT (n.2353-7_2353-6insATGT)
n.2946-7_2946-6insATGT
c.2359-7_2359-6insATGT (n.2359-7_2359-6insATGT)
c.1255-7_1255-6insATGT (n.1255-7_1255-6insATGT)
 dbSNP gnomAD v2 gnomAD v4
19g.12649224T>CCA993664979MAN2B1c.2356-8A>G (n.2356-8A>G)
c.2353-8A>G (n.2353-8A>G)
n.2946-8A>G
c.2359-8A>G (n.2359-8A>G)
c.1255-8A>G (n.1255-8A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.12649224T=CA2323499588MAN2B1c.2356-8A= (n.2356-8A=)
c.2353-8A= (n.2353-8A=)
n.2946-8A=
c.2359-8A= (n.2359-8A=)
c.1255-8A= (n.1255-8A=)
19g.12649225T>GCA2582717946MAN2B1c.2356-9A>C (n.2356-9A>C)
c.2353-9A>C (n.2353-9A>C)
n.2946-9A>C
c.2359-9A>C (n.2359-9A>C)
c.1255-9A>C (n.1255-9A>C)
 gnomAD v4
19g.12649225_12649226insTCACCTCA631832640MAN2B1c.2356-9_2356-8insGGTGAA (n.2356-9_2356-8insGGTGAA)
c.2353-9_2353-8insGGTGAA (n.2353-9_2353-8insGGTGAA)
n.2946-9_2946-8insGGTGAA
c.2359-9_2359-8insGGTGAA (n.2359-9_2359-8insGGTGAA)
c.1255-9_1255-8insGGTGAA (n.1255-9_1255-8insGGTGAA)
 dbSNP gnomAD v2 gnomAD v4
19g.12649226G>TCA2739276536MAN2B1c.2356-10C>A (n.2356-10C>A)
c.2353-10C>A (n.2353-10C>A)
n.2946-10C>A
c.2359-10C>A (n.2359-10C>A)
c.1255-10C>A (n.1255-10C>A)
 ClinVar
19g.12649228A>TCA2582717947MAN2B1c.2356-12T>A (n.2356-12T>A)
c.2353-12T>A (n.2353-12T>A)
n.2946-12T>A
c.2359-12T>A (n.2359-12T>A)
c.1255-12T>A (n.1255-12T>A)
 gnomAD v4
19g.12649229G>ACA631832642MAN2B1c.2356-13C>T (n.2356-13C>T)
c.2353-13C>T (n.2353-13C>T)
n.2946-13C>T
c.2359-13C>T (n.2359-13C>T)
c.1255-13C>T (n.1255-13C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.12649229G=CA2323499589MAN2B1c.2356-13C= (n.2356-13C=)
c.2353-13C= (n.2353-13C=)
n.2946-13C=
c.2359-13C= (n.2359-13C=)
c.1255-13C= (n.1255-13C=)

Number of alleles fetched