ClinVar Miner

List of variants in gene PSAP reported as likely benign for Sphingolipid activator protein 1 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 440
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HGVS dbSNP gnomAD frequency
NM_001042465.2(PSAP):c.-130T>C rs12261323 0.14433
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00090
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00055
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998 0.00051
NM_002778.4(PSAP):c.966G>A (p.Val322=) rs139413990 0.00037
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) rs138636858 0.00036
NM_002778.4(PSAP):c.-29C>T rs201780377 0.00035
NM_002778.4(PSAP):c.721-13T>C rs370875535 0.00031
NM_002778.4(PSAP):c.117G>A (p.Ala39=) rs200836594 0.00029
NM_002778.4(PSAP):c.250-5C>T rs370622849 0.00022
NM_002778.4(PSAP):c.582T>C (p.Asn194=) rs150177878 0.00022
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=) rs146925179 0.00021
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 0.00019
NM_002778.4(PSAP):c.208G>T (p.Val70Phe) rs750239809 0.00019
NM_002778.4(PSAP):c.1338T>C (p.Pro446=) rs138217875 0.00018
NM_002778.4(PSAP):c.577-14T>G rs756487651 0.00013
NM_002778.4(PSAP):c.1006-12C>T rs367693244 0.00011
NM_002778.4(PSAP):c.855C>T (p.Ala285=) rs1040901231 0.00011
NM_002778.4(PSAP):c.1006-11G>A rs375537927 0.00009
NM_002778.4(PSAP):c.1092C>T (p.Tyr364=) rs200226479 0.00009
NM_002778.4(PSAP):c.175-19C>A rs150679635 0.00009
NM_002778.4(PSAP):c.1350+9C>T rs747430592 0.00008
NM_002778.4(PSAP):c.588C>T (p.Asp196=) rs374869360 0.00008
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) rs200319381 0.00008
NM_002778.4(PSAP):c.864C>T (p.Ala288=) rs747491605 0.00007
NM_002778.4(PSAP):c.960C>T (p.Phe320=) rs369725602 0.00007
NM_002778.4(PSAP):c.1017C>T (p.Leu339=) rs146778046 0.00006
NM_002778.4(PSAP):c.1215C>T (p.Asp405=) rs567165839 0.00006
NM_002778.4(PSAP):c.1311G>A (p.Glu437=) rs149525964 0.00006
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) rs762811199 0.00005
NM_002778.4(PSAP):c.41-17_41-9dup rs768077397 0.00005
NM_002778.4(PSAP):c.549C>T (p.Asp183=) rs142002239 0.00005
NM_002778.4(PSAP):c.852C>T (p.Pro284=) rs370435627 0.00005
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324 0.00004
NM_002778.4(PSAP):c.1539+20G>A rs372772165 0.00004
NM_002778.4(PSAP):c.1540-8C>G rs997903652 0.00004
NM_002778.4(PSAP):c.414C>T (p.Cys138=) rs769564352 0.00004
NM_002778.4(PSAP):c.576+11G>A rs371681572 0.00004
NM_002778.4(PSAP):c.6C>T (p.Tyr2=) rs774482765 0.00004
NM_002778.4(PSAP):c.1050G>A (p.Pro350=) rs761826289 0.00003
NM_002778.4(PSAP):c.1161C>G (p.Leu387=) rs927307280 0.00003
NM_002778.4(PSAP):c.1287G>A (p.Lys429=) rs1295313912 0.00003
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) rs572916661 0.00003
NM_002778.4(PSAP):c.1350+15G>A rs574811418 0.00003
NM_002778.4(PSAP):c.174+10G>A rs375887783 0.00003
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_002778.4(PSAP):c.621C>T (p.Asp207=) rs140702696 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.894G>A (p.Leu298=) rs150048951 0.00003
NM_002778.4(PSAP):c.1020C>T (p.Asp340=) rs113679008 0.00002
NM_002778.4(PSAP):c.1041G>A (p.Ser347=) rs747117207 0.00002
NM_002778.4(PSAP):c.1114C>T (p.Leu372=) rs745951723 0.00002
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00002
NM_002778.4(PSAP):c.1233G>T (p.Val411=) rs751867103 0.00002
NM_002778.4(PSAP):c.126C>T (p.Cys42=) rs372943091 0.00002
NM_002778.4(PSAP):c.153C>T (p.Thr51=) rs11555016 0.00002
NM_002778.4(PSAP):c.354G>C (p.Leu118=) rs759556759 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.405C>T (p.Leu135=) rs377181245 0.00002
NM_002778.4(PSAP):c.48C>T (p.Ala16=) rs199808371 0.00002
NM_002778.4(PSAP):c.507C>T (p.Ala169=) rs765156362 0.00002
NM_002778.4(PSAP):c.778-8C>G rs750717205 0.00002
NM_002778.4(PSAP):c.849C>A (p.Val283=) rs747705833 0.00002
NM_002778.4(PSAP):c.879C>T (p.Ile293=) rs1199611460 0.00002
NM_002778.4(PSAP):c.910-13A>G rs370155869 0.00002
NM_002778.4(PSAP):c.1006-20G>A rs751608981 0.00001
NM_002778.4(PSAP):c.1006-7G>A rs372177796 0.00001
NM_002778.4(PSAP):c.1029C>T (p.Asp343=) rs199650747 0.00001
NM_002778.4(PSAP):c.1062G>A (p.Ser354=) rs1486812963 0.00001
NM_002778.4(PSAP):c.1089G>A (p.Thr363=) rs1307052772 0.00001
NM_002778.4(PSAP):c.1128C>T (p.Val376=) rs1287661070 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1170C>T (p.Gly390=) rs757887601 0.00001
NM_002778.4(PSAP):c.1173G>A (p.Thr391=) rs368085481 0.00001
NM_002778.4(PSAP):c.1179G>A (p.Leu393=) rs761017736 0.00001
NM_002778.4(PSAP):c.1227C>T (p.Cys409=) rs147030327 0.00001
NM_002778.4(PSAP):c.12C>T (p.Leu4=) rs1457254996 0.00001
NM_002778.4(PSAP):c.1323C>T (p.Ser441=) rs1419823465 0.00001
NM_002778.4(PSAP):c.1350+10G>A rs542537706 0.00001
NM_002778.4(PSAP):c.1350+8C>T rs781743080 0.00001
NM_002778.4(PSAP):c.1395C>A (p.Ile465=) rs1216069938 0.00001
NM_002778.4(PSAP):c.141C>T (p.His47=) rs759428533 0.00001
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) rs528318545 0.00001
NM_002778.4(PSAP):c.1431+11C>G rs374937004 0.00001
NM_002778.4(PSAP):c.1431+7C>G rs1396852731 0.00001
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.1540-10C>T rs531023925 0.00001
NM_002778.4(PSAP):c.1540-5A>G rs777561159 0.00001
NM_002778.4(PSAP):c.1545C>T (p.Val515=) rs755848707 0.00001
NM_002778.4(PSAP):c.175-5C>G rs771134177 0.00001
NM_002778.4(PSAP):c.186C>T (p.Pro62=) rs749422368 0.00001
NM_002778.4(PSAP):c.19C>T (p.Leu7=) rs768373930 0.00001
NM_002778.4(PSAP):c.213C>T (p.Thr71=) rs765022811 0.00001
NM_002778.4(PSAP):c.249+10G>A rs1454831195 0.00001
NM_002778.4(PSAP):c.249+15G>A rs749419007 0.00001
NM_002778.4(PSAP):c.249+9C>T rs771189289 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.250-4G>A rs568499058 0.00001
NM_002778.4(PSAP):c.268T>C (p.Leu90=) rs954076104 0.00001
NM_002778.4(PSAP):c.294G>A (p.Pro98=) rs752253216 0.00001
NM_002778.4(PSAP):c.351C>A (p.Ile117=) rs1411937746 0.00001
NM_002778.4(PSAP):c.376-15T>C rs1160181309 0.00001
NM_002778.4(PSAP):c.376-6C>T rs1246858301 0.00001
NM_002778.4(PSAP):c.376-9T>C rs1008892591 0.00001
NM_002778.4(PSAP):c.423C>T (p.Leu141=) rs780891597 0.00001
NM_002778.4(PSAP):c.438A>G (p.Ala146=) rs758862885 0.00001
NM_002778.4(PSAP):c.489C>T (p.Asp163=) rs762802593 0.00001
NM_002778.4(PSAP):c.54G>A (p.Pro18=) rs778317867 0.00001
NM_002778.4(PSAP):c.576+10C>T rs765209148 0.00001
NM_002778.4(PSAP):c.591T>G (p.Val197=) rs1387039570 0.00001
NM_002778.4(PSAP):c.60T>C (p.Leu20=) rs188252882 0.00001
NM_002778.4(PSAP):c.663C>T (p.Ala221=) rs780126150 0.00001
NM_002778.4(PSAP):c.687G>A (p.Glu229=) rs752555251 0.00001
NM_002778.4(PSAP):c.717C>T (p.Asp239=) rs879066464 0.00001
NM_002778.4(PSAP):c.721-9T>C rs1175109637 0.00001
NM_002778.4(PSAP):c.732T>C (p.Tyr244=) rs146732171 0.00001
NM_002778.4(PSAP):c.777+11C>T rs749373571 0.00001
NM_002778.4(PSAP):c.777+12G>A rs533983482 0.00001
NM_002778.4(PSAP):c.777+18C>T rs779957575 0.00001
NM_002778.4(PSAP):c.807G>C (p.Gly269=) rs1268577104 0.00001
NM_002778.4(PSAP):c.910-7T>C rs758811581 0.00001
NM_002778.4(PSAP):c.912G>A (p.Lys304=) rs1415619569 0.00001
NM_002778.4(PSAP):c.915C>T (p.His305=) rs377732178 0.00001
NM_002778.4(PSAP):c.930G>A (p.Lys310=) rs939130175 0.00001
NM_002778.4(PSAP):c.9C>T (p.Ala3=) rs769671646 0.00001
NM_002778.4(PSAP):c.1005+12T>C
NM_002778.4(PSAP):c.1005+13C>G
NM_002778.4(PSAP):c.1005+15T>C
NM_002778.4(PSAP):c.1005+19A>G
NM_002778.4(PSAP):c.1006-11G>C
NM_002778.4(PSAP):c.1006-11G>T
NM_002778.4(PSAP):c.1006-11GT[2] rs1238736249
NM_002778.4(PSAP):c.1006-14C>T
NM_002778.4(PSAP):c.1006-16C>G
NM_002778.4(PSAP):c.1006-19A>T
NM_002778.4(PSAP):c.1006-9G>A
NM_002778.4(PSAP):c.1017C>G (p.Leu339=) rs146778046
NM_002778.4(PSAP):c.1045C>T (p.Leu349=) rs780071643
NM_002778.4(PSAP):c.1050G>C (p.Pro350=)
NM_002778.4(PSAP):c.1050G>T (p.Pro350=)
NM_002778.4(PSAP):c.1053G>A (p.Lys351=)
NM_002778.4(PSAP):c.1059G>C (p.Leu353=)
NM_002778.4(PSAP):c.1065A>G (p.Glu355=)
NM_002778.4(PSAP):c.1077G>A (p.Glu359=) rs2133031778
NM_002778.4(PSAP):c.1083G>A (p.Val361=) rs2133031749
NM_002778.4(PSAP):c.1089G>C (p.Thr363=) rs1307052772
NM_002778.4(PSAP):c.1095C>T (p.Gly365=)
NM_002778.4(PSAP):c.1104C>T (p.Ile368=)
NM_002778.4(PSAP):c.1107G>C (p.Leu369=)
NM_002778.4(PSAP):c.1110C>T (p.Ser370=)
NM_002778.4(PSAP):c.1113C>T (p.Ile371=)
NM_002778.4(PSAP):c.1117C>T (p.Leu373=) rs1204739286
NM_002778.4(PSAP):c.1119G>A (p.Leu373=)
NM_002778.4(PSAP):c.1119G>T (p.Leu373=)
NM_002778.4(PSAP):c.1122G>A (p.Glu374=) rs775169672
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) rs751199102
NM_002778.4(PSAP):c.1149C>T (p.Ser383=)
NM_002778.4(PSAP):c.114G>A (p.Thr38=) rs748870680
NM_002778.4(PSAP):c.114G>C (p.Thr38=)
NM_002778.4(PSAP):c.1155G>A (p.Leu385=)
NM_002778.4(PSAP):c.1155G>T (p.Leu385=) rs2133031527
NM_002778.4(PSAP):c.1158C>T (p.His386=) rs2133031525
NM_002778.4(PSAP):c.1161C>T (p.Leu387=)
NM_002778.4(PSAP):c.1185A>C (p.Ala395=)
NM_002778.4(PSAP):c.1191C>G (p.Thr397=) rs759580183
NM_002778.4(PSAP):c.1192+11G>A
NM_002778.4(PSAP):c.1192+12G>A
NM_002778.4(PSAP):c.1192+12G>T
NM_002778.4(PSAP):c.1192+13T>A
NM_002778.4(PSAP):c.1192+14G>T
NM_002778.4(PSAP):c.1192+17G>A
NM_002778.4(PSAP):c.1192+20C>T
NM_002778.4(PSAP):c.1192+7G>A rs1842255678
NM_002778.4(PSAP):c.1192+7G>T rs1842255678
NM_002778.4(PSAP):c.1193-11C>G rs745471135
NM_002778.4(PSAP):c.1193-12C>A rs1389422529
NM_002778.4(PSAP):c.1193-14G>A rs1454774084
NM_002778.4(PSAP):c.1193-15T>G
NM_002778.4(PSAP):c.1193-17G>A
NM_002778.4(PSAP):c.1193-17G>C
NM_002778.4(PSAP):c.1193-18C>G
NM_002778.4(PSAP):c.1193-9C>T
NM_002778.4(PSAP):c.1233G>A (p.Val411=) rs751867103
NM_002778.4(PSAP):c.1236C>T (p.Cys412=)
NM_002778.4(PSAP):c.1245G>T (p.Leu415=)
NM_002778.4(PSAP):c.1260T>C (p.Asp420=)
NM_002778.4(PSAP):c.1267C>T (p.Leu423=)
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1284C>T (p.Thr428=) rs751839091
NM_002778.4(PSAP):c.1296C>T (p.Ile432=) rs144042454
NM_002778.4(PSAP):c.1297C>T (p.Leu433=) rs761967647
NM_002778.4(PSAP):c.12C>A (p.Leu4=)
NM_002778.4(PSAP):c.12C>G (p.Leu4=) rs1457254996
NM_002778.4(PSAP):c.1302T>C (p.Ala434=)
NM_002778.4(PSAP):c.1308T>G (p.Leu436=)
NM_002778.4(PSAP):c.1314A>G (p.Lys438=)
NM_002778.4(PSAP):c.1317C>T (p.Gly439=)
NM_002778.4(PSAP):c.1320C>T (p.Cys440=)
NM_002778.4(PSAP):c.132A>G (p.Ala44=) rs2133052871
NM_002778.4(PSAP):c.1350+12G>A
NM_002778.4(PSAP):c.1350+16G>C rs2133030478
NM_002778.4(PSAP):c.1350+17G>C
NM_002778.4(PSAP):c.1350+20G>C
NM_002778.4(PSAP):c.1350+7C>T rs1326298452
NM_002778.4(PSAP):c.1350+9C>A rs747430592
NM_002778.4(PSAP):c.1350+9del rs774201963
NM_002778.4(PSAP):c.1351-10T>A rs747414740
NM_002778.4(PSAP):c.1351-10T>G rs747414740
NM_002778.4(PSAP):c.1351-15C>T
NM_002778.4(PSAP):c.1351-16C>T
NM_002778.4(PSAP):c.1351-5T>C rs780691822
NM_002778.4(PSAP):c.1351-9C>A
NM_002778.4(PSAP):c.1351-9C>G
NM_002778.4(PSAP):c.1351-9_1351-5del
NM_002778.4(PSAP):c.1377G>A (p.Glu459=) rs1208753948
NM_002778.4(PSAP):c.1389C>A (p.Ile463=)
NM_002778.4(PSAP):c.1398G>C (p.Leu466=)
NM_002778.4(PSAP):c.1419C>T (p.Ser473=) rs1842236573
NM_002778.4(PSAP):c.1425G>T (p.Val475=) rs1589445950
NM_002778.4(PSAP):c.1431+18G>T
NM_002778.4(PSAP):c.1431+19T>C
NM_002778.4(PSAP):c.1432-19T>C
NM_002778.4(PSAP):c.1432-20T>C
NM_002778.4(PSAP):c.1432-6A>G
NM_002778.4(PSAP):c.145C>T (p.Leu49=)
NM_002778.4(PSAP):c.1479G>A (p.Glu493=) rs1589445697
NM_002778.4(PSAP):c.147G>A (p.Leu49=) rs112119208
NM_002778.4(PSAP):c.1497A>G (p.Pro499=) rs1468772996
NM_002778.4(PSAP):c.1500C>T (p.Ser500=) rs2133028698
NM_002778.4(PSAP):c.1509C>T (p.Cys503=)
NM_002778.4(PSAP):c.1518A>T (p.Thr506=) rs2133028668
NM_002778.4(PSAP):c.1524A>G (p.Thr508=)
NM_002778.4(PSAP):c.1530C>G (p.Ala510=)
NM_002778.4(PSAP):c.1539+17_1539+20del
NM_002778.4(PSAP):c.1539+18C>A
NM_002778.4(PSAP):c.1539+20G>T
NM_002778.4(PSAP):c.153C>G (p.Thr51=)
NM_002778.4(PSAP):c.1540-10C>G rs531023925
NM_002778.4(PSAP):c.1540-12C>G rs1842193352
NM_002778.4(PSAP):c.1540-19G>C
NM_002778.4(PSAP):c.1540-19G>T
NM_002778.4(PSAP):c.1540-20A>G
NM_002778.4(PSAP):c.1540-20A>T
NM_002778.4(PSAP):c.1540-4C>T
NM_002778.4(PSAP):c.1540-8C>T
NM_002778.4(PSAP):c.1540-8_1540-7del
NM_002778.4(PSAP):c.1548G>A (p.Glu516=) rs780990521
NM_002778.4(PSAP):c.1560C>T (p.Arg520=) rs2133025799
NM_002778.4(PSAP):c.168A>C (p.Pro56=)
NM_002778.4(PSAP):c.174+15C>T
NM_002778.4(PSAP):c.174+16C>T
NM_002778.4(PSAP):c.174+17T>C
NM_002778.4(PSAP):c.174+17T>G
NM_002778.4(PSAP):c.174+20A>G
NM_002778.4(PSAP):c.175-10T>C
NM_002778.4(PSAP):c.175-11C>A
NM_002778.4(PSAP):c.175-16G>A
NM_002778.4(PSAP):c.175-16G>T
NM_002778.4(PSAP):c.175-17C>T
NM_002778.4(PSAP):c.175-6T>C
NM_002778.4(PSAP):c.175-7C>T rs2133049297
NM_002778.4(PSAP):c.175-8T>C
NM_002778.4(PSAP):c.192C>T (p.Asp64=) rs2133049237
NM_002778.4(PSAP):c.201A>G (p.Lys67=) rs2133049199
NM_002778.4(PSAP):c.207T>C (p.Val69=) rs1842527028
NM_002778.4(PSAP):c.210C>T (p.Val70=)
NM_002778.4(PSAP):c.231G>A (p.Leu77=)
NM_002778.4(PSAP):c.249+10G>T rs1454831195
NM_002778.4(PSAP):c.249+11G>C rs2133049059
NM_002778.4(PSAP):c.249+19G>A
NM_002778.4(PSAP):c.249+20G>A rs2133049043
NM_002778.4(PSAP):c.249+7G>A
NM_002778.4(PSAP):c.249+8G>A rs2133049074
NM_002778.4(PSAP):c.250-10C>T
NM_002778.4(PSAP):c.250-12_250-11del
NM_002778.4(PSAP):c.250-15G>A
NM_002778.4(PSAP):c.250-16T>C
NM_002778.4(PSAP):c.250-17C>G
NM_002778.4(PSAP):c.250-4G>T
NM_002778.4(PSAP):c.250-7C>T
NM_002778.4(PSAP):c.250-9C>G rs2133048261
NM_002778.4(PSAP):c.250-9C>T
NM_002778.4(PSAP):c.267C>T (p.Tyr89=)
NM_002778.4(PSAP):c.270G>A (p.Leu90=)
NM_002778.4(PSAP):c.27C>T (p.Ser9=) rs2133075290
NM_002778.4(PSAP):c.282T>C (p.Cys94=)
NM_002778.4(PSAP):c.291T>A (p.Leu97=)
NM_002778.4(PSAP):c.291T>C (p.Leu97=)
NM_002778.4(PSAP):c.300G>A (p.Pro100=) rs376113488
NM_002778.4(PSAP):c.300G>T (p.Pro100=) rs376113488
NM_002778.4(PSAP):c.303C>T (p.Asn101=) rs2133048147
NM_002778.4(PSAP):c.315A>G (p.Ser105=) rs2133048117
NM_002778.4(PSAP):c.330G>A (p.Val110=)
NM_002778.4(PSAP):c.333C>T (p.Asp111=)
NM_002778.4(PSAP):c.342C>G (p.Leu114=)
NM_002778.4(PSAP):c.348C>G (p.Val116=)
NM_002778.4(PSAP):c.351C>T (p.Ile117=) rs1411937746
NM_002778.4(PSAP):c.352C>T (p.Leu118=)
NM_002778.4(PSAP):c.375+13G>A rs2133047916
NM_002778.4(PSAP):c.375+16T>C
NM_002778.4(PSAP):c.375+18G>A
NM_002778.4(PSAP):c.375+20C>G
NM_002778.4(PSAP):c.375+9T>C
NM_002778.4(PSAP):c.376-10A>G
NM_002778.4(PSAP):c.376-4C>A rs750779234
NM_002778.4(PSAP):c.376-5A>T rs2133045115
NM_002778.4(PSAP):c.376-8C>T rs2133045123
NM_002778.4(PSAP):c.381T>C (p.Arg127=) rs762133120
NM_002778.4(PSAP):c.390G>A (p.Glu130=)
NM_002778.4(PSAP):c.393G>A (p.Val131=) rs889083956
NM_002778.4(PSAP):c.399T>C (p.Ser133=) rs2133045048
NM_002778.4(PSAP):c.40+16C>G
NM_002778.4(PSAP):c.40+19A>T
NM_002778.4(PSAP):c.40+8C>T
NM_002778.4(PSAP):c.40+9T>A rs2133075223
NM_002778.4(PSAP):c.402T>A (p.Ala134=) rs1842459031
NM_002778.4(PSAP):c.402T>C (p.Ala134=) rs1842459031
NM_002778.4(PSAP):c.41-16T>C
NM_002778.4(PSAP):c.41-17G>C
NM_002778.4(PSAP):c.41-17G>T
NM_002778.4(PSAP):c.41-18C>G
NM_002778.4(PSAP):c.41-18C>T
NM_002778.4(PSAP):c.41-18del
NM_002778.4(PSAP):c.41-19A>G
NM_002778.4(PSAP):c.41-19dup
NM_002778.4(PSAP):c.41-20C>T
NM_002778.4(PSAP):c.41-22_41-20del
NM_002778.4(PSAP):c.41-7A>G rs2133053123
NM_002778.4(PSAP):c.411C>T (p.Leu137=)
NM_002778.4(PSAP):c.423C>A (p.Leu141=)
NM_002778.4(PSAP):c.429G>A (p.Lys143=) rs573587297
NM_002778.4(PSAP):c.42T>C (p.Ala14=)
NM_002778.4(PSAP):c.435A>G (p.Leu145=)
NM_002778.4(PSAP):c.441G>A (p.Glu147=)
NM_002778.4(PSAP):c.450C>T (p.His150=)
NM_002778.4(PSAP):c.460C>T (p.Leu154=) rs1300106682
NM_002778.4(PSAP):c.462G>A (p.Leu154=) rs2133044866
NM_002778.4(PSAP):c.477C>T (p.Ile159=)
NM_002778.4(PSAP):c.48C>A (p.Ala16=)
NM_002778.4(PSAP):c.498G>A (p.Glu166=) rs2133044816
NM_002778.4(PSAP):c.504G>A (p.Val168=)
NM_002778.4(PSAP):c.510C>G (p.Pro170=)
NM_002778.4(PSAP):c.522C>T (p.Asn174=) rs1326511224
NM_002778.4(PSAP):c.537C>G (p.Leu179=) rs2133044748
NM_002778.4(PSAP):c.54G>C (p.Pro18=) rs778317867
NM_002778.4(PSAP):c.552C>A (p.Gly184=) rs1313057234
NM_002778.4(PSAP):c.558C>T (p.Arg186=)
NM_002778.4(PSAP):c.561C>T (p.Ser187=) rs2133044694
NM_002778.4(PSAP):c.567C>G (p.Pro189=)
NM_002778.4(PSAP):c.567C>T (p.Pro189=)
NM_002778.4(PSAP):c.570G>A (p.Gln190=) rs142272618
NM_002778.4(PSAP):c.573A>G (p.Pro191=) rs2133044655
NM_002778.4(PSAP):c.576+11G>C
NM_002778.4(PSAP):c.576+13G>T
NM_002778.4(PSAP):c.576+18C>T
NM_002778.4(PSAP):c.576+7C>G rs755154023
NM_002778.4(PSAP):c.576+9A>G
NM_002778.4(PSAP):c.576+9_576+20del rs2133044608
NM_002778.4(PSAP):c.577-11C>T
NM_002778.4(PSAP):c.577-12C>T
NM_002778.4(PSAP):c.577-7T>G
NM_002778.4(PSAP):c.57C>A (p.Val19=) rs2133053073
NM_002778.4(PSAP):c.57C>T (p.Val19=)
NM_002778.4(PSAP):c.585G>A (p.Gly195=)
NM_002778.4(PSAP):c.594C>T (p.Cys198=) rs1383574711
NM_002778.4(PSAP):c.597G>A (p.Gln199=)
NM_002778.4(PSAP):c.609G>A (p.Gln203=) rs1842430531
NM_002778.4(PSAP):c.618T>A (p.Thr206=) rs2133043550
NM_002778.4(PSAP):c.633T>C (p.Ala211=) rs2133043525
NM_002778.4(PSAP):c.642C>T (p.Thr214=) rs1842429688
NM_002778.4(PSAP):c.648C>T (p.Ser216=)
NM_002778.4(PSAP):c.651C>G (p.Thr217=) rs371714848
NM_002778.4(PSAP):c.663C>G (p.Ala221=) rs780126150
NM_002778.4(PSAP):c.666G>A (p.Leu222=)
NM_002778.4(PSAP):c.697C>T (p.Leu233=) rs146934980
NM_002778.4(PSAP):c.699G>A (p.Leu233=)
NM_002778.4(PSAP):c.69A>G (p.Lys23=)
NM_002778.4(PSAP):c.702C>T (p.Gly234=)
NM_002778.4(PSAP):c.714C>T (p.Ala238=) rs141199649
NM_002778.4(PSAP):c.720+15C>T rs778910432
NM_002778.4(PSAP):c.720+16T>C
NM_002778.4(PSAP):c.720+7C>G rs754131929
NM_002778.4(PSAP):c.720+7C>T
NM_002778.4(PSAP):c.721-12C>G
NM_002778.4(PSAP):c.721-19T>G
NM_002778.4(PSAP):c.721-20A>G
NM_002778.4(PSAP):c.721-5C>T
NM_002778.4(PSAP):c.721-8C>T
NM_002778.4(PSAP):c.723C>T (p.Cys241=)
NM_002778.4(PSAP):c.729C>T (p.Asn243=)
NM_002778.4(PSAP):c.741G>A (p.Gln247=) rs202069470
NM_002778.4(PSAP):c.75C>T (p.Cys25=) rs928117739
NM_002778.4(PSAP):c.777+10A>G
NM_002778.4(PSAP):c.777+16G>T
NM_002778.4(PSAP):c.777+19C>G
NM_002778.4(PSAP):c.777+9C>T rs774490507
NM_002778.4(PSAP):c.778-10C>G
NM_002778.4(PSAP):c.778-19T>G
NM_002778.4(PSAP):c.778-6C>T rs2133035424
NM_002778.4(PSAP):c.778-9T>C
NM_002778.4(PSAP):c.786G>A (p.Lys262=) rs2133035392
NM_002778.4(PSAP):c.789G>A (p.Glu263=) rs762026767
NM_002778.4(PSAP):c.792C>T (p.Ile264=)
NM_002778.4(PSAP):c.822G>A (p.Val274=) rs149202005
NM_002778.4(PSAP):c.825A>G (p.Lys275=)
NM_002778.4(PSAP):c.828G>A (p.Glu276=) rs2133035300
NM_002778.4(PSAP):c.834C>T (p.Pro278=) rs2133035278
NM_002778.4(PSAP):c.844C>T (p.Leu282=) rs1589448110
NM_002778.4(PSAP):c.84C>T (p.Gly28=) rs2133053002
NM_002778.4(PSAP):c.852C>A (p.Pro284=)
NM_002778.4(PSAP):c.867C>G (p.Ser289=) rs2133035197
NM_002778.4(PSAP):c.87G>A (p.Ser29=)
NM_002778.4(PSAP):c.87G>C (p.Ser29=) rs764061004
NM_002778.4(PSAP):c.885C>T (p.Ala295=) rs563653978
NM_002778.4(PSAP):c.886C>T (p.Leu296=) rs2133035173
NM_002778.4(PSAP):c.888G>A (p.Leu296=) rs750789641
NM_002778.4(PSAP):c.909+12C>G
NM_002778.4(PSAP):c.909+13A>C
NM_002778.4(PSAP):c.909+17T>A
NM_002778.4(PSAP):c.909+17T>C
NM_002778.4(PSAP):c.909+18G>A
NM_002778.4(PSAP):c.909+7G>A
NM_002778.4(PSAP):c.909+8dup
NM_002778.4(PSAP):c.90A>C (p.Ala30=) rs2133052977
NM_002778.4(PSAP):c.910-13A>C
NM_002778.4(PSAP):c.910-13A>T
NM_002778.4(PSAP):c.910-16_910-14del
NM_002778.4(PSAP):c.910-18C>T
NM_002778.4(PSAP):c.910-18_910-15del
NM_002778.4(PSAP):c.910-8T>G rs2133032996
NM_002778.4(PSAP):c.939T>C (p.Val313=)
NM_002778.4(PSAP):c.942C>T (p.Tyr314=) rs1589447082
NM_002778.4(PSAP):c.951G>A (p.Val317=) rs2133032801
NM_002778.4(PSAP):c.961C>T (p.Leu321=)
NM_002778.4(PSAP):c.963G>A (p.Leu321=) rs2133032778
NM_002778.4(PSAP):c.990C>T (p.Asp330=) rs746313696
NM_002778.4(PSAP):c.99C>T (p.Cys33=)
NM_002778.4(PSAP):c.9C>G (p.Ala3=) rs769671646

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