Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.35500001_35500012dupCA2695206259TULP1c.1464_1475dup (p.Phe491_Gln492insHisLysAsnPhe)
c.1305_1316dup (p.Phe438_Gln439insHisLysAsnPhe)
c.1458_1469dup (p.Phe489_Gln490insHisLysAsnPhe)
6g.35500010T>ACA363778523TULP1c.1466A>T (p.Lys489Met)
c.1307A>T (p.Lys436Met)
c.1460A>T (p.Lys487Met)
6g.35500010T>CCA227705TULP1c.1466A>G (p.Lys489Arg)
c.1307A>G (p.Lys436Arg)
c.1460A>G (p.Lys487Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500010T>GCA363778526TULP1c.1466A>C (p.Lys489Thr)
c.1307A>C (p.Lys436Thr)
c.1460A>C (p.Lys487Thr)
6g.35500010T=CA1620928945TULP1c.1466A= (p.Lys489=)
c.1307A= (p.Lys436=)
c.1460A= (p.Lys487=)
6g.35500011T>ACA363778528TULP1c.1465A>T (p.Lys489Ter)
c.1306A>T (p.Lys436Ter)
c.1459A>T (p.Lys487Ter)
6g.35500011T>CCA363778530TULP1c.1465A>G (p.Lys489Glu)
c.1306A>G (p.Lys436Glu)
c.1459A>G (p.Lys487Glu)
6g.35500011T>GCA363778532TULP1c.1465A>C (p.Lys489Gln)
c.1306A>C (p.Lys436Gln)
c.1459A>C (p.Lys487Gln)
6g.35500012G>ACA449942308TULP1c.1464C>T (p.Val488=)
c.1305C>T (p.Val435=)
c.1458C>T (p.Val486=)
 dbSNP
6g.35500012G>CCA449942307TULP1c.1464C>G (p.Val488=)
c.1305C>G (p.Val435=)
c.1458C>G (p.Val486=)
6g.35500012G=CA1620928948TULP1c.1464C= (p.Val488=)
c.1305C= (p.Val435=)
c.1458C= (p.Val486=)
6g.35500012G>TCA449942306TULP1c.1464C>A (p.Val488=)
c.1305C>A (p.Val435=)
c.1458C>A (p.Val486=)
 gnomAD v4
6g.35500013A>CCA363778533TULP1c.1463T>G (p.Val488Gly)
c.1304T>G (p.Val435Gly)
c.1457T>G (p.Val486Gly)
6g.35500013A>GCA363778536TULP1c.1463T>C (p.Val488Ala)
c.1304T>C (p.Val435Ala)
c.1457T>C (p.Val486Ala)
6g.35500013A>TCA363778538TULP1c.1463T>A (p.Val488Asp)
c.1304T>A (p.Val435Asp)
c.1457T>A (p.Val486Asp)
 gnomAD v4
6g.35500014C>ACA363778543TULP1c.1462G>T (p.Val488Phe)
c.1303G>T (p.Val435Phe)
c.1456G>T (p.Val486Phe)
6g.35500014C>GCA363778541TULP1c.1462G>C (p.Val488Leu)
c.1303G>C (p.Val435Leu)
c.1456G>C (p.Val486Leu)
6g.35500014C>TCA363778539TULP1c.1462G>A (p.Val488Ile)
c.1303G>A (p.Val435Ile)
c.1456G>A (p.Val486Ile)
6g.35500015T>ACA449942313TULP1c.1461A>T (p.Ser487=)
c.1302A>T (p.Ser434=)
c.1455A>T (p.Ser485=)
6g.35500015T>CCA449942314TULP1c.1461A>G (p.Ser487=)
c.1302A>G (p.Ser434=)
c.1455A>G (p.Ser485=)
 ClinVar
6g.35500015T>GCA449942315TULP1c.1461A>C (p.Ser487=)
c.1302A>C (p.Ser434=)
c.1455A>C (p.Ser485=)
 dbSNP
6g.35500015T=CA1620928951TULP1c.1461A= (p.Ser487=)
c.1302A= (p.Ser434=)
c.1455A= (p.Ser485=)
6g.35500015_35500023delinsTGAGGCCTGCA1620928950TULP1c.1453_1461delinsCAGGCCTCA (p.Gln485=)
c.1294_1302delinsCAGGCCTCA (p.Gln432=)
c.1447_1455delinsCAGGCCTCA (p.Gln483=)
6g.35500016G>ACA363778545TULP1c.1460C>T (p.Ser487Leu)
c.1301C>T (p.Ser434Leu)
c.1454C>T (p.Ser485Leu)
6g.35500016G>CCA363778547TULP1c.1460C>G (p.Ser487Ter)
c.1301C>G (p.Ser434Ter)
c.1454C>G (p.Ser485Ter)
6g.35500016G>TCA363778549TULP1c.1460C>A (p.Ser487Ter)
c.1301C>A (p.Ser434Ter)
c.1454C>A (p.Ser485Ter)
6g.35500017_35500024delCA824214121TULP1c.1453_1460del (p.Gln485SerfsTer10)
c.1294_1301del (p.Gln432SerfsTer10)
c.1447_1454del (p.Gln483SerfsTer10)
 ClinVar dbSNP gnomAD v4
6g.35500017A>CCA363778551TULP1c.1459T>G (p.Ser487Ala)
c.1300T>G (p.Ser434Ala)
c.1453T>G (p.Ser485Ala)
6g.35500017A>GCA363778553TULP1c.1459T>C (p.Ser487Pro)
c.1300T>C (p.Ser434Pro)
c.1453T>C (p.Ser485Pro)
6g.35500017A>TCA363778555TULP1c.1459T>A (p.Ser487Thr)
c.1300T>A (p.Ser434Thr)
c.1453T>A (p.Ser485Thr)
6g.35500018G>ACA3772550TULP1c.1458C>T (p.Ala486=)
c.1299C>T (p.Ala433=)
c.1452C>T (p.Ala484=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500018G>CCA449942317TULP1c.1458C>G (p.Ala486=)
c.1299C>G (p.Ala433=)
c.1452C>G (p.Ala484=)
6g.35500018G=CA1620928956TULP1c.1458C= (p.Ala486=)
c.1299C= (p.Ala433=)
c.1452C= (p.Ala484=)
6g.35500018G>TCA449942316TULP1c.1458C>A (p.Ala486=)
c.1299C>A (p.Ala433=)
c.1452C>A (p.Ala484=)
6g.35500019G>ACA363778557TULP1c.1457C>T (p.Ala486Val)
c.1298C>T (p.Ala433Val)
c.1451C>T (p.Ala484Val)
 gnomAD v4
6g.35500019G>CCA363778559TULP1c.1457C>G (p.Ala486Gly)
c.1298C>G (p.Ala433Gly)
c.1451C>G (p.Ala484Gly)
6g.35500019G=CA1620928959TULP1c.1457C= (p.Ala486=)
c.1298C= (p.Ala433=)
c.1451C= (p.Ala484=)
6g.35500019G>TCA137278065TULP1c.1457C>A (p.Ala486Asp)
c.1298C>A (p.Ala433Asp)
c.1451C>A (p.Ala484Asp)
 ClinVar dbSNP gnomAD v4
6g.35500020C>ACA363778561TULP1c.1456G>T (p.Ala486Ser)
c.1297G>T (p.Ala433Ser)
c.1450G>T (p.Ala484Ser)
6g.35500020C=CA1620928961TULP1c.1456G= (p.Ala486=)
c.1297G= (p.Ala433=)
c.1450G= (p.Ala484=)
6g.35500020C>GCA363778563TULP1c.1456G>C (p.Ala486Pro)
c.1297G>C (p.Ala433Pro)
c.1450G>C (p.Ala484Pro)
6g.35500020C>TCA363778565TULP1c.1456G>A (p.Ala486Thr)
c.1297G>A (p.Ala433Thr)
c.1450G>A (p.Ala484Thr)
 dbSNP gnomAD v4
6g.35500021C>ACA363778568TULP1c.1455G>T (p.Gln485His)
c.1296G>T (p.Gln432His)
c.1449G>T (p.Gln483His)
6g.35500021C>GCA363778567TULP1c.1455G>C (p.Gln485His)
c.1296G>C (p.Gln432His)
c.1449G>C (p.Gln483His)
6g.35500021C>TCA449942320TULP1c.1455G>A (p.Gln485=)
c.1296G>A (p.Gln432=)
c.1449G>A (p.Gln483=)
 gnomAD v4
6g.35500022T>ACA363778570TULP1c.1454A>T (p.Gln485Leu)
c.1295A>T (p.Gln432Leu)
c.1448A>T (p.Gln483Leu)
6g.35500022T>CCA363778571TULP1c.1454A>G (p.Gln485Arg)
c.1295A>G (p.Gln432Arg)
c.1448A>G (p.Gln483Arg)
6g.35500022T>GCA363778573TULP1c.1454A>C (p.Gln485Pro)
c.1295A>C (p.Gln432Pro)
c.1448A>C (p.Gln483Pro)
6g.35500022_35500046delinsTGGGTGACCCGGCCTTGGAAGTTGACA1620928963TULP1c.1430_1454delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu477=)
c.1271_1295delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu424=)
c.1424_1448delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu475=)
6g.35500023G>ACA363778574TULP1c.1453C>T (p.Gln485Ter)
c.1294C>T (p.Gln432Ter)
c.1447C>T (p.Gln483Ter)
 gnomAD v4
6g.35500023G>CCA363778575TULP1c.1453C>G (p.Gln485Glu)
c.1294C>G (p.Gln432Glu)
c.1447C>G (p.Gln483Glu)
6g.35500023G>TCA363778577TULP1c.1453C>A (p.Gln485Lys)
c.1294C>A (p.Gln432Lys)
c.1447C>A (p.Gln483Lys)
6g.35500028_35500051delCA1620928965TULP1c.1430_1453del (p.Leu477_Thr484del)
c.1271_1294del (p.Leu424_Thr431del)
c.1424_1447del (p.Leu475_Thr482del)
 ClinVar dbSNP gnomAD v4
6g.35500024G>ACA449942324TULP1c.1452C>T (p.Thr484=)
c.1293C>T (p.Thr431=)
c.1446C>T (p.Thr482=)
6g.35500024G>CCA449942326TULP1c.1452C>G (p.Thr484=)
c.1293C>G (p.Thr431=)
c.1446C>G (p.Thr482=)
6g.35500024G>TCA449942325TULP1c.1452C>A (p.Thr484=)
c.1293C>A (p.Thr431=)
c.1446C>A (p.Thr482=)
6g.35500025G>ACA137278069TULP1c.1451C>T (p.Thr484Ile)
c.1292C>T (p.Thr431Ile)
c.1445C>T (p.Thr482Ile)
 dbSNP
6g.35500025G>CCA363778581TULP1c.1451C>G (p.Thr484Ser)
c.1292C>G (p.Thr431Ser)
c.1445C>G (p.Thr482Ser)
 gnomAD v4
6g.35500025G=CA1620928967TULP1c.1451C= (p.Thr484=)
c.1292C= (p.Thr431=)
c.1445C= (p.Thr482=)
6g.35500025G>TCA363778579TULP1c.1451C>A (p.Thr484Asn)
c.1292C>A (p.Thr431Asn)
c.1445C>A (p.Thr482Asn)
6g.35500026T>ACA363778584TULP1c.1450A>T (p.Thr484Ser)
c.1291A>T (p.Thr431Ser)
c.1444A>T (p.Thr482Ser)
6g.35500026T>CCA363778586TULP1c.1450A>G (p.Thr484Ala)
c.1291A>G (p.Thr431Ala)
c.1444A>G (p.Thr482Ala)
6g.35500026T>GCA363778587TULP1c.1450A>C (p.Thr484Pro)
c.1291A>C (p.Thr431Pro)
c.1444A>C (p.Thr482Pro)
6g.35500027G>ACA449942330TULP1c.1449C>T (p.Val483=)
c.1290C>T (p.Val430=)
c.1443C>T (p.Val481=)
 dbSNP gnomAD v2 gnomAD v4
6g.35500027G>CCA449942331TULP1c.1449C>G (p.Val483=)
c.1290C>G (p.Val430=)
c.1443C>G (p.Val481=)
6g.35500027G=CA1620928970TULP1c.1449C= (p.Val483=)
c.1290C= (p.Val430=)
c.1443C= (p.Val481=)
6g.35500027G>TCA449942332TULP1c.1449C>A (p.Val483=)
c.1290C>A (p.Val430=)
c.1443C>A (p.Val481=)
 gnomAD v4
6g.35500028A=CA1620928973TULP1c.1448T= (p.Val483=)
c.1289T= (p.Val430=)
c.1442T= (p.Val481=)
6g.35500028A>CCA363778588TULP1c.1448T>G (p.Val483Gly)
c.1289T>G (p.Val430Gly)
c.1442T>G (p.Val481Gly)
 dbSNP
6g.35500028A>GCA363778590TULP1c.1448T>C (p.Val483Ala)
c.1289T>C (p.Val430Ala)
c.1442T>C (p.Val481Ala)
6g.35500028A>TCA363778592TULP1c.1448T>A (p.Val483Asp)
c.1289T>A (p.Val430Asp)
c.1442T>A (p.Val481Asp)
6g.35500029C>ACA363778597TULP1c.1447G>T (p.Val483Phe)
c.1288G>T (p.Val430Phe)
c.1441G>T (p.Val481Phe)
6g.35500029C=CA1620928976TULP1c.1447G= (p.Val483=)
c.1288G= (p.Val430=)
c.1441G= (p.Val481=)
6g.35500029C>GCA363778594TULP1c.1447G>C (p.Val483Leu)
c.1288G>C (p.Val430Leu)
c.1441G>C (p.Val481Leu)
6g.35500029C>TCA363778595TULP1c.1447G>A (p.Val483Ile)
c.1288G>A (p.Val430Ile)
c.1441G>A (p.Val481Ile)
 ClinVar dbSNP
6g.35500030C>ACA449942336TULP1c.1446G>T (p.Arg482=)
c.1287G>T (p.Arg429=)
c.1440G>T (p.Arg480=)
6g.35500030C>GCA449942337TULP1c.1446G>C (p.Arg482=)
c.1287G>C (p.Arg429=)
c.1440G>C (p.Arg480=)
6g.35500030C>TCA449942338TULP1c.1446G>A (p.Arg482=)
c.1287G>A (p.Arg429=)
c.1440G>A (p.Arg480=)
6g.35500031C>ACA363778599TULP1c.1445G>T (p.Arg482Leu)
c.1286G>T (p.Arg429Leu)
c.1439G>T (p.Arg480Leu)
6g.35500031C=CA1620928980TULP1c.1445G= (p.Arg482=)
c.1286G= (p.Arg429=)
c.1439G= (p.Arg480=)
6g.35500031C>GCA363778601TULP1c.1445G>C (p.Arg482Pro)
c.1286G>C (p.Arg429Pro)
c.1439G>C (p.Arg480Pro)
6g.35500031C>TCA137278071TULP1c.1445G>A (p.Arg482Gln)
c.1286G>A (p.Arg429Gln)
c.1439G>A (p.Arg480Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35500032G>ACA254157TULP1c.1444C>T (p.Arg482Trp)
c.1285C>T (p.Arg429Trp)
c.1438C>T (p.Arg480Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35500032G>CCA363778604TULP1c.1444C>G (p.Arg482Gly)
c.1285C>G (p.Arg429Gly)
c.1438C>G (p.Arg480Gly)
6g.35500032G=CA1620928986TULP1c.1444C= (p.Arg482=)
c.1285C= (p.Arg429=)
c.1438C= (p.Arg480=)
6g.35500032G>TCA449942341TULP1c.1444C>A (p.Arg482=)
c.1285C>A (p.Arg429=)
c.1438C>A (p.Arg480=)
6g.35500033G>ACA449942345TULP1c.1443C>T (p.Gly481=)
c.1284C>T (p.Gly428=)
c.1437C>T (p.Gly479=)
 ClinVar dbSNP
6g.35500033G>CCA449942342TULP1c.1443C>G (p.Gly481=)
c.1284C>G (p.Gly428=)
c.1437C>G (p.Gly479=)
 ClinVar dbSNP
6g.35500033G=CA1620928990TULP1c.1443C= (p.Gly481=)
c.1284C= (p.Gly428=)
c.1437C= (p.Gly479=)
6g.35500033G>TCA449942344TULP1c.1443C>A (p.Gly481=)
c.1284C>A (p.Gly428=)
c.1437C>A (p.Gly479=)
6g.35500034C>ACA363778606TULP1c.1442G>T (p.Gly481Val)
c.1283G>T (p.Gly428Val)
c.1436G>T (p.Gly479Val)
6g.35500034C>GCA363778608TULP1c.1442G>C (p.Gly481Ala)
c.1283G>C (p.Gly428Ala)
c.1436G>C (p.Gly479Ala)
6g.35500034C>TCA363778610TULP1c.1442G>A (p.Gly481Asp)
c.1283G>A (p.Gly428Asp)
c.1436G>A (p.Gly479Asp)
6g.35500035C>ACA363778612TULP1c.1441G>T (p.Gly481Cys)
c.1282G>T (p.Gly428Cys)
c.1435G>T (p.Gly479Cys)
6g.35500035C>GCA363778614TULP1c.1441G>C (p.Gly481Arg)
c.1282G>C (p.Gly428Arg)
c.1435G>C (p.Gly479Arg)
6g.35500035C>TCA363778635TULP1c.1441G>A (p.Gly481Ser)
c.1282G>A (p.Gly428Ser)
c.1435G>A (p.Gly479Ser)
6g.35500036T>ACA137278073TULP1c.1440A>T (p.Gln480His)
c.1281A>T (p.Gln427His)
c.1434A>T (p.Gln478His)
 dbSNP
6g.35500036T>CCA449942349TULP1c.1440A>G (p.Gln480=)
c.1281A>G (p.Gln427=)
c.1434A>G (p.Gln478=)
6g.35500036T>GCA363778638TULP1c.1440A>C (p.Gln480His)
c.1281A>C (p.Gln427His)
c.1434A>C (p.Gln478His)
 gnomAD v4
6g.35500036T=CA1620928992TULP1c.1440A= (p.Gln480=)
c.1281A= (p.Gln427=)
c.1434A= (p.Gln478=)
6g.35500037T>ACA363778646TULP1c.1439A>T (p.Gln480Leu)
c.1280A>T (p.Gln427Leu)
c.1433A>T (p.Gln478Leu)
6g.35500037T>CCA363778642TULP1c.1439A>G (p.Gln480Arg)
c.1280A>G (p.Gln427Arg)
c.1433A>G (p.Gln478Arg)
6g.35500037T>GCA363778644TULP1c.1439A>C (p.Gln480Pro)
c.1280A>C (p.Gln427Pro)
c.1433A>C (p.Gln478Pro)
6g.35500038G>ACA363778648TULP1c.1438C>T (p.Gln480Ter)
c.1279C>T (p.Gln427Ter)
c.1432C>T (p.Gln478Ter)
6g.35500038G>CCA363778649TULP1c.1438C>G (p.Gln480Glu)
c.1279C>G (p.Gln427Glu)
c.1432C>G (p.Gln478Glu)
6g.35500038G>TCA363778650TULP1c.1438C>A (p.Gln480Lys)
c.1279C>A (p.Gln427Lys)
c.1432C>A (p.Gln478Lys)
6g.35500039G>ACA3772551TULP1c.1437C>T (p.Phe479=)
c.1278C>T (p.Phe426=)
c.1431C>T (p.Phe477=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500039G>CCA363778653TULP1c.1437C>G (p.Phe479Leu)
c.1278C>G (p.Phe426Leu)
c.1431C>G (p.Phe477Leu)
6g.35500039G=CA1620928997TULP1c.1437C= (p.Phe479=)
c.1278C= (p.Phe426=)
c.1431C= (p.Phe477=)
6g.35500039G>TCA363778655TULP1c.1437C>A (p.Phe479Leu)
c.1278C>A (p.Phe426Leu)
c.1431C>A (p.Phe477Leu)
6g.35500040A>CCA363778660TULP1c.1436T>G (p.Phe479Cys)
c.1277T>G (p.Phe426Cys)
c.1430T>G (p.Phe477Cys)
6g.35500040A>GCA363778656TULP1c.1436T>C (p.Phe479Ser)
c.1277T>C (p.Phe426Ser)
c.1430T>C (p.Phe477Ser)
6g.35500040A>TCA363778658TULP1c.1436T>A (p.Phe479Tyr)
c.1277T>A (p.Phe426Tyr)
c.1430T>A (p.Phe477Tyr)
6g.35500041A>CCA363778662TULP1c.1435T>G (p.Phe479Val)
c.1276T>G (p.Phe426Val)
c.1429T>G (p.Phe477Val)
6g.35500041A>GCA363778663TULP1c.1435T>C (p.Phe479Leu)
c.1276T>C (p.Phe426Leu)
c.1429T>C (p.Phe477Leu)
6g.35500041A>TCA363778665TULP1c.1435T>A (p.Phe479Ile)
c.1276T>A (p.Phe426Ile)
c.1429T>A (p.Phe477Ile)
6g.35500042G>ACA137278081TULP1c.1434C>T (p.Asn478=)
c.1275C>T (p.Asn425=)
c.1428C>T (p.Asn476=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35500042G>CCA363778667TULP1c.1434C>G (p.Asn478Lys)
c.1275C>G (p.Asn425Lys)
c.1428C>G (p.Asn476Lys)
6g.35500042G=CA1620928999TULP1c.1434C= (p.Asn478=)
c.1275C= (p.Asn425=)
c.1428C= (p.Asn476=)
6g.35500042G>TCA3772552TULP1c.1434C>A (p.Asn478Lys)
c.1275C>A (p.Asn425Lys)
c.1428C>A (p.Asn476Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500043T>ACA363778678TULP1c.1433A>T (p.Asn478Ile)
c.1274A>T (p.Asn425Ile)
c.1427A>T (p.Asn476Ile)
6g.35500043T>CCA3772553TULP1c.1433A>G (p.Asn478Ser)
c.1274A>G (p.Asn425Ser)
c.1427A>G (p.Asn476Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35500043T>GCA363778676TULP1c.1433A>C (p.Asn478Thr)
c.1274A>C (p.Asn425Thr)
c.1427A>C (p.Asn476Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.35500043T=CA1620929001TULP1c.1433A= (p.Asn478=)
c.1274A= (p.Asn425=)
c.1427A= (p.Asn476=)
6g.35500044T>ACA363778680TULP1c.1432A>T (p.Asn478Tyr)
c.1273A>T (p.Asn425Tyr)
c.1426A>T (p.Asn476Tyr)
6g.35500044T>CCA363778681TULP1c.1432A>G (p.Asn478Asp)
c.1273A>G (p.Asn425Asp)
c.1426A>G (p.Asn476Asp)
6g.35500044T>GCA363778683TULP1c.1432A>C (p.Asn478His)
c.1273A>C (p.Asn425His)
c.1426A>C (p.Asn476His)
 gnomAD v4
6g.35500045G>ACA137278093TULP1c.1431C>T (p.Leu477=)
c.1272C>T (p.Leu424=)
c.1425C>T (p.Leu475=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.35500045G>CCA449942354TULP1c.1431C>G (p.Leu477=)
c.1272C>G (p.Leu424=)
c.1425C>G (p.Leu475=)
6g.35500045G=CA1620929004TULP1c.1431C= (p.Leu477=)
c.1272C= (p.Leu424=)
c.1425C= (p.Leu475=)
6g.35500045G>TCA449942355TULP1c.1431C>A (p.Leu477=)
c.1272C>A (p.Leu424=)
c.1425C>A (p.Leu475=)
6g.35500046A=CA1620929007TULP1c.1430T= (p.Leu477=)
c.1271T= (p.Leu424=)
c.1424T= (p.Leu475=)
6g.35500046A>CCA363778685TULP1c.1430T>G (p.Leu477Arg)
c.1271T>G (p.Leu424Arg)
c.1424T>G (p.Leu475Arg)
6g.35500046A>GCA363778687TULP1c.1430T>C (p.Leu477Pro)
c.1271T>C (p.Leu424Pro)
c.1424T>C (p.Leu475Pro)
 dbSNP gnomAD v3 gnomAD v4
6g.35500046A>TCA363778688TULP1c.1430T>A (p.Leu477His)
c.1271T>A (p.Leu424His)
c.1424T>A (p.Leu475His)
6g.35500047G>ACA363778689TULP1c.1429C>T (p.Leu477Phe)
c.1270C>T (p.Leu424Phe)
c.1423C>T (p.Leu475Phe)
 gnomAD v4
6g.35500047G>CCA363778691TULP1c.1429C>G (p.Leu477Val)
c.1270C>G (p.Leu424Val)
c.1423C>G (p.Leu475Val)
 ClinVar dbSNP
6g.35500047G=CA1620929009TULP1c.1429C= (p.Leu477=)
c.1270C= (p.Leu424=)
c.1423C= (p.Leu475=)
6g.35500047G>TCA363778693TULP1c.1429C>A (p.Leu477Ile)
c.1270C>A (p.Leu424Ile)
c.1423C>A (p.Leu475Ile)
6g.35500048G>ACA449942359TULP1c.1428C>T (p.Thr476=)
c.1269C>T (p.Thr423=)
c.1422C>T (p.Thr474=)
 gnomAD v4
6g.35500048G>CCA449942360TULP1c.1428C>G (p.Thr476=)
c.1269C>G (p.Thr423=)
c.1422C>G (p.Thr474=)
6g.35500048G>TCA449942361TULP1c.1428C>A (p.Thr476=)
c.1269C>A (p.Thr423=)
c.1422C>A (p.Thr474=)
6g.35500049G>ACA363778695TULP1c.1427C>T (p.Thr476Ile)
c.1268C>T (p.Thr423Ile)
c.1421C>T (p.Thr474Ile)
 dbSNP
6g.35500049G>CCA363778697TULP1c.1427C>G (p.Thr476Ser)
c.1268C>G (p.Thr423Ser)
c.1421C>G (p.Thr474Ser)
6g.35500049G=CA1620929011TULP1c.1427C= (p.Thr476=)
c.1268C= (p.Thr423=)
c.1421C= (p.Thr474=)
6g.35500049G>TCA3772554TULP1c.1427C>A (p.Thr476Asn)
c.1268C>A (p.Thr423Asn)
c.1421C>A (p.Thr474Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500050T>ACA363778700TULP1c.1426A>T (p.Thr476Ser)
c.1267A>T (p.Thr423Ser)
c.1420A>T (p.Thr474Ser)
6g.35500050T>CCA363778704TULP1c.1426A>G (p.Thr476Ala)
c.1267A>G (p.Thr423Ala)
c.1420A>G (p.Thr474Ala)
6g.35500050T>GCA363778702TULP1c.1426A>C (p.Thr476Pro)
c.1267A>C (p.Thr423Pro)
c.1420A>C (p.Thr474Pro)
6g.35500051G>ACA449942365TULP1c.1425C>T (p.Tyr475=)
c.1266C>T (p.Tyr422=)
c.1419C>T (p.Tyr473=)
 dbSNP gnomAD v2 gnomAD v4
6g.35500051G>CCA363778705TULP1c.1425C>G (p.Tyr475Ter)
c.1266C>G (p.Tyr422Ter)
c.1419C>G (p.Tyr473Ter)
6g.35500051G=CA1620929015TULP1c.1425C= (p.Tyr475=)
c.1266C= (p.Tyr422=)
c.1419C= (p.Tyr473=)
6g.35500051G>TCA363778706TULP1c.1425C>A (p.Tyr475Ter)
c.1266C>A (p.Tyr422Ter)
c.1419C>A (p.Tyr473Ter)
6g.35500052T>ACA363778709TULP1c.1424A>T (p.Tyr475Phe)
c.1265A>T (p.Tyr422Phe)
c.1418A>T (p.Tyr473Phe)
6g.35500052T>CCA363778710TULP1c.1424A>G (p.Tyr475Cys)
c.1265A>G (p.Tyr422Cys)
c.1418A>G (p.Tyr473Cys)
 gnomAD v4
6g.35500052T>GCA363778712TULP1c.1424A>C (p.Tyr475Ser)
c.1265A>C (p.Tyr422Ser)
c.1418A>C (p.Tyr473Ser)
6g.35500053A>CCA363778716TULP1c.1423T>G (p.Tyr475Asp)
c.1264T>G (p.Tyr422Asp)
c.1417T>G (p.Tyr473Asp)
6g.35500053A>GCA363778715TULP1c.1423T>C (p.Tyr475His)
c.1264T>C (p.Tyr422His)
c.1417T>C (p.Tyr473His)
6g.35500053A>TCA363778714TULP1c.1423T>A (p.Tyr475Asn)
c.1264T>A (p.Tyr422Asn)
c.1417T>A (p.Tyr473Asn)
6g.35500054G>ACA449942371TULP1c.1422C>T (p.Ser474=)
c.1263C>T (p.Ser421=)
c.1416C>T (p.Ser472=)
6g.35500054G>CCA449942369TULP1c.1422C>G (p.Ser474=)
c.1263C>G (p.Ser421=)
c.1416C>G (p.Ser472=)
6g.35500054G>TCA449942370TULP1c.1422C>A (p.Ser474=)
c.1263C>A (p.Ser421=)
c.1416C>A (p.Ser472=)
6g.35500055G>ACA363778718TULP1c.1421C>T (p.Ser474Phe)
c.1262C>T (p.Ser421Phe)
c.1415C>T (p.Ser472Phe)
6g.35500055G>CCA363778720TULP1c.1421C>G (p.Ser474Cys)
c.1262C>G (p.Ser421Cys)
c.1415C>G (p.Ser472Cys)
6g.35500055G>TCA363778722TULP1c.1421C>A (p.Ser474Tyr)
c.1262C>A (p.Ser421Tyr)
c.1415C>A (p.Ser472Tyr)
6g.35500056A>CCA363778724TULP1c.1420T>G (p.Ser474Ala)
c.1261T>G (p.Ser421Ala)
c.1414T>G (p.Ser472Ala)
 gnomAD v4
6g.35500056A>GCA363778726TULP1c.1420T>C (p.Ser474Pro)
c.1261T>C (p.Ser421Pro)
c.1414T>C (p.Ser472Pro)
6g.35500056A>TCA363778728TULP1c.1420T>A (p.Ser474Thr)
c.1261T>A (p.Ser421Thr)
c.1414T>A (p.Ser472Thr)
6g.35500057G>ACA449942374TULP1c.1419C>T (p.Gly473=)
c.1260C>T (p.Gly420=)
c.1413C>T (p.Gly471=)
6g.35500057G>CCA449942376TULP1c.1419C>G (p.Gly473=)
c.1260C>G (p.Gly420=)
c.1413C>G (p.Gly471=)
6g.35500057G>TCA449942377TULP1c.1419C>A (p.Gly473=)
c.1260C>A (p.Gly420=)
c.1413C>A (p.Gly471=)
6g.35500058C>ACA363778734TULP1c.1418G>T (p.Gly473Val)
c.1259G>T (p.Gly420Val)
c.1412G>T (p.Gly471Val)
6g.35500058C>GCA363778730TULP1c.1418G>C (p.Gly473Ala)
c.1259G>C (p.Gly420Ala)
c.1412G>C (p.Gly471Ala)
 COSMIC
6g.35500058C>TCA363778732TULP1c.1418G>A (p.Gly473Asp)
c.1259G>A (p.Gly420Asp)
c.1412G>A (p.Gly471Asp)
6g.35500059C>ACA363778735TULP1c.1417G>T (p.Gly473Cys)
c.1258G>T (p.Gly420Cys)
c.1411G>T (p.Gly471Cys)
6g.35500059C>GCA363778736TULP1c.1417G>C (p.Gly473Arg)
c.1258G>C (p.Gly420Arg)
c.1411G>C (p.Gly471Arg)
6g.35500059C>TCA363778737TULP1c.1417G>A (p.Gly473Ser)
c.1258G>A (p.Gly420Ser)
c.1411G>A (p.Gly471Ser)
6g.35500060A>CCA363778738TULP1c.1416T>G (p.Ser472Arg)
c.1257T>G (p.Ser419Arg)
c.1410T>G (p.Ser470Arg)
6g.35500060A>GCA449942381TULP1c.1416T>C (p.Ser472=)
c.1257T>C (p.Ser419=)
c.1410T>C (p.Ser470=)
 gnomAD v4
6g.35500060A>TCA363778740TULP1c.1416T>A (p.Ser472Arg)
c.1257T>A (p.Ser419Arg)
c.1410T>A (p.Ser470Arg)
6g.35500061C>ACA363778742TULP1c.1415G>T (p.Ser472Ile)
c.1256G>T (p.Ser419Ile)
c.1409G>T (p.Ser470Ile)
6g.35500061C=CA1620929018TULP1c.1415G= (p.Ser472=)
c.1256G= (p.Ser419=)
c.1409G= (p.Ser470=)
6g.35500061C>GCA363778743TULP1c.1415G>C (p.Ser472Thr)
c.1256G>C (p.Ser419Thr)
c.1409G>C (p.Ser470Thr)
6g.35500061C>TCA363778745TULP1c.1415G>A (p.Ser472Asn)
c.1256G>A (p.Ser419Asn)
c.1409G>A (p.Ser470Asn)
 dbSNP gnomAD v4
6g.35500062T>ACA363778747TULP1c.1414A>T (p.Ser472Cys)
c.1255A>T (p.Ser419Cys)
c.1408A>T (p.Ser470Cys)
6g.35500062T>CCA363778749TULP1c.1414A>G (p.Ser472Gly)
c.1255A>G (p.Ser419Gly)
c.1408A>G (p.Ser470Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.35500062T>GCA363778750TULP1c.1414A>C (p.Ser472Arg)
c.1255A>C (p.Ser419Arg)
c.1408A>C (p.Ser470Arg)
6g.35500062T=CA1620929020TULP1c.1414A= (p.Ser472=)
c.1255A= (p.Ser419=)
c.1408A= (p.Ser470=)
6g.35500063G>ACA449942383TULP1c.1413C>T (p.Asp471=)
c.1254C>T (p.Asp418=)
c.1407C>T (p.Asp469=)
6g.35500063G>CCA363778752TULP1c.1413C>G (p.Asp471Glu)
c.1254C>G (p.Asp418Glu)
c.1407C>G (p.Asp469Glu)
6g.35500063G>TCA363778754TULP1c.1413C>A (p.Asp471Glu)
c.1254C>A (p.Asp418Glu)
c.1407C>A (p.Asp469Glu)
6g.35500064T>ACA363778756TULP1c.1412A>T (p.Asp471Val)
c.1253A>T (p.Asp418Val)
c.1406A>T (p.Asp469Val)
6g.35500064T>CCA363778759TULP1c.1412A>G (p.Asp471Gly)
c.1253A>G (p.Asp418Gly)
c.1406A>G (p.Asp469Gly)
6g.35500064T>GCA363778757TULP1c.1412A>C (p.Asp471Ala)
c.1253A>C (p.Asp418Ala)
c.1406A>C (p.Asp469Ala)
6g.35500065C>ACA363778761TULP1c.1411G>T (p.Asp471Tyr)
c.1252G>T (p.Asp418Tyr)
c.1405G>T (p.Asp469Tyr)
6g.35500065C=CA1620929022TULP1c.1411G= (p.Asp471=)
c.1252G= (p.Asp418=)
c.1405G= (p.Asp469=)
6g.35500065C>GCA363778762TULP1c.1411G>C (p.Asp471His)
c.1252G>C (p.Asp418His)
c.1405G>C (p.Asp469His)
6g.35500065C>TCA363778764TULP1c.1411G>A (p.Asp471Asn)
c.1252G>A (p.Asp418Asn)
c.1405G>A (p.Asp469Asn)
 dbSNP gnomAD v2
6g.35500066A>CCA363778766TULP1c.1410T>G (p.Asp470Glu)
c.1251T>G (p.Asp417Glu)
c.1404T>G (p.Asp468Glu)
6g.35500066A>GCA449942387TULP1c.1410T>C (p.Asp470=)
c.1251T>C (p.Asp417=)
c.1404T>C (p.Asp468=)
6g.35500066A>TCA363778768TULP1c.1410T>A (p.Asp470Glu)
c.1251T>A (p.Asp417Glu)
c.1404T>A (p.Asp468Glu)
6g.35500067T>ACA363778769TULP1c.1409A>T (p.Asp470Val)
c.1250A>T (p.Asp417Val)
c.1403A>T (p.Asp468Val)
6g.35500067T>CCA363778770TULP1c.1409A>G (p.Asp470Gly)
c.1250A>G (p.Asp417Gly)
c.1403A>G (p.Asp468Gly)
6g.35500067T>GCA363778771TULP1c.1409A>C (p.Asp470Ala)
c.1250A>C (p.Asp417Ala)
c.1403A>C (p.Asp468Ala)
6g.35500068C>ACA363778772TULP1c.1408G>T (p.Asp470Tyr)
c.1249G>T (p.Asp417Tyr)
c.1402G>T (p.Asp468Tyr)
 dbSNP
6g.35500068C=CA1620929026TULP1c.1408G= (p.Asp470=)
c.1249G= (p.Asp417=)
c.1402G= (p.Asp468=)
6g.35500068C>GCA363778774TULP1c.1408G>C (p.Asp470His)
c.1249G>C (p.Asp417His)
c.1402G>C (p.Asp468His)
6g.35500068C>TCA137278095TULP1c.1408G>A (p.Asp470Asn)
c.1249G>A (p.Asp417Asn)
c.1402G>A (p.Asp468Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.35500069G>ACA3772555TULP1c.1407C>T (p.Asn469=)
c.1248C>T (p.Asn416=)
c.1401C>T (p.Asn467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35500069G>CCA363778778TULP1c.1407C>G (p.Asn469Lys)
c.1248C>G (p.Asn416Lys)
c.1401C>G (p.Asn467Lys)
6g.35500069G=CA1620929032TULP1c.1407C= (p.Asn469=)
c.1248C= (p.Asn416=)
c.1401C= (p.Asn467=)
6g.35500069G>TCA363778776TULP1c.1407C>A (p.Asn469Lys)
c.1248C>A (p.Asn416Lys)
c.1401C>A (p.Asn467Lys)
 gnomAD v4
6g.35500070T>ACA363778781TULP1c.1406A>T (p.Asn469Ile)
c.1247A>T (p.Asn416Ile)
n.582A>T
c.1400A>T (p.Asn467Ile)
6g.35500070T>CCA3772556TULP1c.1406A>G (p.Asn469Ser)
c.1247A>G (p.Asn416Ser)
n.582A>G
c.1400A>G (p.Asn467Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500070T>GCA363778783TULP1c.1406A>C (p.Asn469Thr)
c.1247A>C (p.Asn416Thr)
n.582A>C
c.1400A>C (p.Asn467Thr)
6g.35500070T=CA1620929035TULP1c.1406A= (p.Asn469=)
c.1247A= (p.Asn416=)
n.582A=
c.1400A= (p.Asn467=)
6g.35500071T>ACA363778784TULP1c.1405A>T (p.Asn469Tyr)
c.1246A>T (p.Asn416Tyr)
n.581A>T
c.1399A>T (p.Asn467Tyr)
6g.35500071T>CCA363778786TULP1c.1405A>G (p.Asn469Asp)
c.1246A>G (p.Asn416Asp)
n.581A>G
c.1399A>G (p.Asn467Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.35500071T>GCA363778788TULP1c.1405A>C (p.Asn469His)
c.1246A>C (p.Asn416His)
n.581A>C
c.1399A>C (p.Asn467His)
 ClinVar
6g.35500071T=CA1620929037TULP1c.1405A= (p.Asn469=)
c.1246A= (p.Asn416=)
n.581A=
c.1399A= (p.Asn467=)
6g.35500072C>ACA363778789TULP1c.1404G>T (p.Trp468Cys)
c.1245G>T (p.Trp415Cys)
n.580G>T
c.1398G>T (p.Trp466Cys)
6g.35500072C>GCA363778791TULP1c.1404G>C (p.Trp468Cys)
c.1245G>C (p.Trp415Cys)
n.580G>C
c.1398G>C (p.Trp466Cys)
6g.35500072C>TCA363778792TULP1c.1404G>A (p.Trp468Ter)
c.1245G>A (p.Trp415Ter)
n.580G>A
c.1398G>A (p.Trp466Ter)
6g.35500073C>ACA363778794TULP1c.1403G>T (p.Trp468Leu)
c.1244G>T (p.Trp415Leu)
n.579G>T
c.1397G>T (p.Trp466Leu)
6g.35500073C=CA1620929042TULP1c.1403G= (p.Trp468=)
c.1244G= (p.Trp415=)
n.579G=
c.1397G= (p.Trp466=)
6g.35500073C>GCA363778796TULP1c.1403G>C (p.Trp468Ser)
c.1244G>C (p.Trp415Ser)
n.579G>C
c.1397G>C (p.Trp466Ser)
 dbSNP gnomAD v4
6g.35500073C>TCA363778797TULP1c.1403G>A (p.Trp468Ter)
c.1244G>A (p.Trp415Ter)
n.579G>A
c.1397G>A (p.Trp466Ter)
6g.35500074A>CCA363778799TULP1c.1402T>G (p.Trp468Gly)
c.1243T>G (p.Trp415Gly)
n.578T>G
c.1396T>G (p.Trp466Gly)
6g.35500074A>GCA363778802TULP1c.1402T>C (p.Trp468Arg)
c.1243T>C (p.Trp415Arg)
n.578T>C
c.1396T>C (p.Trp466Arg)
6g.35500074A>TCA363778801TULP1c.1402T>A (p.Trp468Arg)
c.1243T>A (p.Trp415Arg)
n.578T>A
c.1396T>A (p.Trp466Arg)
6g.35500075G>ACA449942393TULP1c.1401C>T (p.Val467=)
c.1242C>T (p.Val414=)
n.577C>T
c.1395C>T (p.Val465=)
 dbSNP gnomAD v2 gnomAD v4
6g.35500075G>CCA449942395TULP1c.1401C>G (p.Val467=)
c.1242C>G (p.Val414=)
n.577C>G
c.1395C>G (p.Val465=)
 gnomAD v4
6g.35500075G=CA1620929043TULP1c.1401C= (p.Val467=)
c.1242C= (p.Val414=)
n.577C=
c.1395C= (p.Val465=)
6g.35500075G>TCA449942396TULP1c.1401C>A (p.Val467=)
c.1242C>A (p.Val414=)
n.577C>A
c.1395C>A (p.Val465=)
 gnomAD v4
6g.35500076A>CCA363778804TULP1c.1400T>G (p.Val467Gly)
c.1241T>G (p.Val414Gly)
n.576T>G
c.1394T>G (p.Val465Gly)
6g.35500076A>GCA363778808TULP1c.1400T>C (p.Val467Ala)
c.1241T>C (p.Val414Ala)
n.576T>C
c.1394T>C (p.Val465Ala)
6g.35500076A>TCA363778806TULP1c.1400T>A (p.Val467Asp)
c.1241T>A (p.Val414Asp)
n.576T>A
c.1394T>A (p.Val465Asp)
6g.35500077C>ACA363778810TULP1c.1399G>T (p.Val467Phe)
c.1240G>T (p.Val414Phe)
n.575G>T
c.1393G>T (p.Val465Phe)
6g.35500077C=CA1620929044TULP1c.1399G= (p.Val467=)
c.1240G= (p.Val414=)
n.575G=
c.1393G= (p.Val465=)
6g.35500077C>GCA363778812TULP1c.1399G>C (p.Val467Leu)
c.1240G>C (p.Val414Leu)
n.575G>C
c.1393G>C (p.Val465Leu)
 ClinVar dbSNP gnomAD v4
6g.35500077C>TCA3772557TULP1c.1399G>A (p.Val467Ile)
c.1240G>A (p.Val414Ile)
n.575G>A
c.1393G>A (p.Val465Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500078A>CCA449942398TULP1c.1398T>G (p.Pro466=)
c.1239T>G (p.Pro413=)
n.574T>G
c.1392T>G (p.Pro464=)
6g.35500078A>GCA449942399TULP1c.1398T>C (p.Pro466=)
c.1239T>C (p.Pro413=)
n.574T>C
c.1392T>C (p.Pro464=)
 ClinVar gnomAD v4
6g.35500078A>TCA449942400TULP1c.1398T>A (p.Pro466=)
c.1239T>A (p.Pro413=)
n.574T>A
c.1392T>A (p.Pro464=)
6g.35500078dupCA2678413968TULP1c.1398dup (p.Val467CysfsTer5)
c.1239dup (p.Val414CysfsTer5)
n.574dup
c.1392dup (p.Val465CysfsTer5)
 gnomAD v4
6g.35500079G>ACA363778814TULP1c.1397C>T (p.Pro466Leu)
c.1238C>T (p.Pro413Leu)
n.573C>T
c.1391C>T (p.Pro464Leu)
 dbSNP gnomAD v4
6g.35500079G>CCA363778816TULP1c.1397C>G (p.Pro466Arg)
c.1238C>G (p.Pro413Arg)
n.573C>G
c.1391C>G (p.Pro464Arg)
6g.35500079G=CA1620929046TULP1c.1397C= (p.Pro466=)
c.1238C= (p.Pro413=)
n.573C=
c.1391C= (p.Pro464=)
6g.35500079G>TCA363778818TULP1c.1397C>A (p.Pro466His)
c.1238C>A (p.Pro413His)
n.573C>A
c.1391C>A (p.Pro464His)
6g.35500080G>ACA137278154TULP1c.1396C>T (p.Pro466Ser)
c.1237C>T (p.Pro413Ser)
n.572C>T
c.1390C>T (p.Pro464Ser)
 ClinVar dbSNP
6g.35500080G>CCA363778819TULP1c.1396C>G (p.Pro466Ala)
c.1237C>G (p.Pro413Ala)
n.572C>G
c.1390C>G (p.Pro464Ala)
6g.35500080G=CA1620929050TULP1c.1396C= (p.Pro466=)
c.1237C= (p.Pro413=)
n.572C=
c.1390C= (p.Pro464=)
6g.35500080G>TCA363778822TULP1c.1396C>A (p.Pro466Thr)
c.1237C>A (p.Pro413Thr)
n.572C>A
c.1390C>A (p.Pro464Thr)
6g.35500081T>ACA449942402TULP1c.1395A>T (p.Pro465=)
c.1236A>T (p.Pro412=)
n.571A>T
c.1389A>T (p.Pro463=)
6g.35500081T>CCA449942403TULP1c.1395A>G (p.Pro465=)
c.1236A>G (p.Pro412=)
n.571A>G
c.1389A>G (p.Pro463=)
6g.35500081T>GCA449942404TULP1c.1395A>C (p.Pro465=)
c.1236A>C (p.Pro412=)
n.571A>C
c.1389A>C (p.Pro463=)
6g.35500082G>ACA363778824TULP1c.1394C>T (p.Pro465Leu)
c.1235C>T (p.Pro412Leu)
n.570C>T
c.1388C>T (p.Pro463Leu)
6g.35500082G>CCA137278161TULP1c.1394C>G (p.Pro465Arg)
c.1235C>G (p.Pro412Arg)
n.570C>G
c.1388C>G (p.Pro463Arg)
 dbSNP gnomAD v4
6g.35500082G=CA1620929054TULP1c.1394C= (p.Pro465=)
c.1235C= (p.Pro412=)
n.570C=
c.1388C= (p.Pro463=)
6g.35500082G>TCA363778826TULP1c.1394C>A (p.Pro465Gln)
c.1235C>A (p.Pro412Gln)
n.570C>A
c.1388C>A (p.Pro463Gln)
6g.35500083G>ACA363778828TULP1c.1393C>T (p.Pro465Ser)
c.1234C>T (p.Pro412Ser)
n.569C>T
c.1387C>T (p.Pro463Ser)
 gnomAD v4
6g.35500083G>CCA363778830TULP1c.1393C>G (p.Pro465Ala)
c.1234C>G (p.Pro412Ala)
n.569C>G
c.1387C>G (p.Pro463Ala)
6g.35500083G=CA1620929056TULP1c.1393C= (p.Pro465=)
c.1234C= (p.Pro412=)
n.569C=
c.1387C= (p.Pro463=)
6g.35500083G>TCA137278168TULP1c.1393C>A (p.Pro465Thr)
c.1234C>A (p.Pro412Thr)
n.569C>A
c.1387C>A (p.Pro463Thr)
 dbSNP gnomAD v4
6g.35500084C>ACA363778834TULP1c.1392G>T (p.Lys464Asn)
c.1233G>T (p.Lys411Asn)
n.568G>T
c.1386G>T (p.Lys462Asn)
6g.35500084C>GCA363778832TULP1c.1392G>C (p.Lys464Asn)
c.1233G>C (p.Lys411Asn)
n.568G>C
c.1386G>C (p.Lys462Asn)
6g.35500084C>TCA449942409TULP1c.1392G>A (p.Lys464=)
c.1233G>A (p.Lys411=)
n.568G>A
c.1386G>A (p.Lys462=)
6g.35500085T>ACA363778836TULP1c.1391A>T (p.Lys464Met)
c.1232A>T (p.Lys411Met)
n.567A>T
c.1385A>T (p.Lys462Met)
 dbSNP gnomAD v3 gnomAD v4
6g.35500085T>CCA363778838TULP1c.1391A>G (p.Lys464Arg)
c.1232A>G (p.Lys411Arg)
n.567A>G
c.1385A>G (p.Lys462Arg)
6g.35500085T>GCA363778839TULP1c.1391A>C (p.Lys464Thr)
c.1232A>C (p.Lys411Thr)
n.567A>C
c.1385A>C (p.Lys462Thr)
6g.35500085T=CA1620929059TULP1c.1391A= (p.Lys464=)
c.1232A= (p.Lys411=)
n.567A=
c.1385A= (p.Lys462=)
6g.35500089_35500091delCA2678413969TULP1c.1389_1391del (p.Asn463del)
c.1230_1232del (p.Asn410del)
n.565_567del
c.1383_1385del (p.Asn461del)
 ClinVar gnomAD v4
6g.35500086T>ACA363778841TULP1c.1390A>T (p.Lys464Ter)
c.1231A>T (p.Lys411Ter)
n.566A>T
c.1384A>T (p.Lys462Ter)
6g.35500086T>CCA363778842TULP1c.1390A>G (p.Lys464Glu)
c.1231A>G (p.Lys411Glu)
n.566A>G
c.1384A>G (p.Lys462Glu)
6g.35500086T>GCA137278178TULP1c.1390A>C (p.Lys464Gln)
c.1231A>C (p.Lys411Gln)
n.566A>C
c.1384A>C (p.Lys462Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.35500086T=CA1620929061TULP1c.1390A= (p.Lys464=)
c.1231A= (p.Lys411=)
n.566A=
c.1384A= (p.Lys462=)
6g.35500087G>ACA449942412TULP1c.1389C>T (p.Asn463=)
c.1230C>T (p.Asn410=)
n.565C>T
c.1383C>T (p.Asn461=)
6g.35500087G>CCA137278183TULP1c.1389C>G (p.Asn463Lys)
c.1230C>G (p.Asn410Lys)
n.565C>G
c.1383C>G (p.Asn461Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.35500087G=CA1620929065TULP1c.1389C= (p.Asn463=)
c.1230C= (p.Asn410=)
n.565C=
c.1383C= (p.Asn461=)
6g.35500087G>TCA363778843TULP1c.1389C>A (p.Asn463Lys)
c.1230C>A (p.Asn410Lys)
n.565C>A
c.1383C>A (p.Asn461Lys)
 ClinVar dbSNP gnomAD v4
6g.35500087_35500088delinsGTCA1620929067TULP1c.1388_1389delinsAC (p.Asn463=)
c.1229_1230delinsAC (p.Asn410=)
n.564_565delinsAC
c.1382_1383delinsAC (p.Asn461=)
6g.35500088T>ACA363778844TULP1c.1388A>T (p.Asn463Ile)
c.1229A>T (p.Asn410Ile)
n.564A>T
c.1382A>T (p.Asn461Ile)
6g.35500088T>CCA363778845TULP1c.1388A>G (p.Asn463Ser)
c.1229A>G (p.Asn410Ser)
n.564A>G
c.1382A>G (p.Asn461Ser)
6g.35500088T>GCA363778846TULP1c.1388A>C (p.Asn463Thr)
c.1229A>C (p.Asn410Thr)
n.564A>C
c.1382A>C (p.Asn461Thr)
6g.35500089delCA915944234TULP1c.1388del (p.Asn463ThrfsTer?)
c.1229del (p.Asn410ThrfsTer?)
n.564del
c.1382del (p.Asn461ThrfsTer?)
 ClinVar dbSNP
6g.35500089T>ACA363778850TULP1c.1387A>T (p.Asn463Tyr)
c.1228A>T (p.Asn410Tyr)
n.563A>T
c.1381A>T (p.Asn461Tyr)
 ClinVar dbSNP
6g.35500089T>CCA363778849TULP1c.1387A>G (p.Asn463Asp)
c.1228A>G (p.Asn410Asp)
n.563A>G
c.1381A>G (p.Asn461Asp)
 gnomAD v4
6g.35500089T>GCA363778847TULP1c.1387A>C (p.Asn463His)
c.1228A>C (p.Asn410His)
n.563A>C
c.1381A>C (p.Asn461His)
6g.35500089T=CA1620929076TULP1c.1387A= (p.Asn463=)
c.1228A= (p.Asn410=)
n.563A=
c.1381A= (p.Asn461=)
6g.35500090G>ACA3772558TULP1c.1386C>T (p.His462=)
c.1227C>T (p.His409=)
n.562C>T
c.1380C>T (p.His460=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500090G>CCA363778852TULP1c.1386C>G (p.His462Gln)
c.1227C>G (p.His409Gln)
n.562C>G
c.1380C>G (p.His460Gln)
6g.35500090G=CA1620929079TULP1c.1386C= (p.His462=)
c.1227C= (p.His409=)
n.562C=
c.1380C= (p.His460=)
6g.35500090G>TCA363778854TULP1c.1386C>A (p.His462Gln)
c.1227C>A (p.His409Gln)
n.562C>A
c.1380C>A (p.His460Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.35500090dupCA2739272950TULP1c.1386dup (p.Asn463GlnfsTer9)
c.1227dup (p.Asn410GlnfsTer9)
n.562dup
c.1380dup (p.Asn461GlnfsTer9)
 ClinVar
6g.35500091T>ACA363778856TULP1c.1385A>T (p.His462Leu)
c.1226A>T (p.His409Leu)
n.561A>T
c.1379A>T (p.His460Leu)
6g.35500091T>CCA3772559TULP1c.1385A>G (p.His462Arg)
c.1226A>G (p.His409Arg)
n.561A>G
c.1379A>G (p.His460Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500091T>GCA363778858TULP1c.1385A>C (p.His462Pro)
c.1226A>C (p.His409Pro)
n.561A>C
c.1379A>C (p.His460Pro)
6g.35500091T=CA1620929082TULP1c.1385A= (p.His462=)
c.1226A= (p.His409=)
n.561A=
c.1379A= (p.His460=)
6g.35500092G>ACA3772560TULP1c.1384C>T (p.His462Tyr)
c.1225C>T (p.His409Tyr)
n.560C>T
c.1378C>T (p.His460Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500092G>CCA363778861TULP1c.1384C>G (p.His462Asp)
c.1225C>G (p.His409Asp)
n.560C>G
c.1378C>G (p.His460Asp)
6g.35500092G=CA1620929086TULP1c.1384C= (p.His462=)
c.1225C= (p.His409=)
n.560C=
c.1378C= (p.His460=)
6g.35500092G>TCA363778862TULP1c.1384C>A (p.His462Asn)
c.1225C>A (p.His409Asn)
n.560C>A
c.1378C>A (p.His460Asn)
6g.35500093C>ACA449942418TULP1c.1383G>T (p.Leu461=)
c.1224G>T (p.Leu408=)
n.559G>T
c.1377G>T (p.Leu459=)
6g.35500093C>GCA449942420TULP1c.1383G>C (p.Leu461=)
c.1224G>C (p.Leu408=)
n.559G>C
c.1377G>C (p.Leu459=)
6g.35500093C>TCA449942419TULP1c.1383G>A (p.Leu461=)
c.1224G>A (p.Leu408=)
n.559G>A
c.1377G>A (p.Leu459=)
6g.35500094A>CCA363778864TULP1c.1382T>G (p.Leu461Arg)
c.1223T>G (p.Leu408Arg)
n.558T>G
c.1376T>G (p.Leu459Arg)
 gnomAD v4
6g.35500094A>GCA363778865TULP1c.1382T>C (p.Leu461Pro)
c.1223T>C (p.Leu408Pro)
n.558T>C
c.1376T>C (p.Leu459Pro)
 gnomAD v4
6g.35500094A>TCA363778866TULP1c.1382T>A (p.Leu461Gln)
c.1223T>A (p.Leu408Gln)
n.558T>A
c.1376T>A (p.Leu459Gln)
6g.35500095G>ACA449942421TULP1c.1381C>T (p.Leu461=)
c.1222C>T (p.Leu408=)
n.557C>T
c.1375C>T (p.Leu459=)
6g.35500095G>CCA3772561TULP1c.1381C>G (p.Leu461Val)
c.1222C>G (p.Leu408Val)
n.557C>G
c.1375C>G (p.Leu459Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500095G=CA1620929089TULP1c.1381C= (p.Leu461=)
c.1222C= (p.Leu408=)
n.557C=
c.1375C= (p.Leu459=)
6g.35500095G>TCA363778868TULP1c.1381C>A (p.Leu461Met)
c.1222C>A (p.Leu408Met)
n.557C>A
c.1375C>A (p.Leu459Met)
 COSMIC
6g.35500096T>ACA363778871TULP1c.1380A>T (p.Glu460Asp)
c.1221A>T (p.Glu407Asp)
n.556A>T
c.1374A>T (p.Glu458Asp)
6g.35500096T>CCA449942423TULP1c.1380A>G (p.Glu460=)
c.1221A>G (p.Glu407=)
n.556A>G
c.1374A>G (p.Glu458=)
6g.35500096T>GCA363778873TULP1c.1380A>C (p.Glu460Asp)
c.1221A>C (p.Glu407Asp)
n.556A>C
c.1374A>C (p.Glu458Asp)
6g.35500097T>ACA363778874TULP1c.1379A>T (p.Glu460Val)
c.1220A>T (p.Glu407Val)
n.555A>T
c.1373A>T (p.Glu458Val)
6g.35500097T>CCA363778875TULP1c.1379A>G (p.Glu460Gly)
c.1220A>G (p.Glu407Gly)
n.555A>G
c.1373A>G (p.Glu458Gly)
6g.35500097T>GCA363778876TULP1c.1379A>C (p.Glu460Ala)
c.1220A>C (p.Glu407Ala)
n.555A>C
c.1373A>C (p.Glu458Ala)
6g.35500098delCA645563439TULP1c.1378del (p.Glu460AsnfsTer?)
c.1219del (p.Glu407AsnfsTer?)
n.554del
c.1372del (p.Glu458AsnfsTer?)
 COSMIC
6g.35500098C>ACA363778878TULP1c.1378G>T (p.Glu460Ter)
c.1219G>T (p.Glu407Ter)
n.554G>T
c.1372G>T (p.Glu458Ter)
 ClinVar dbSNP
6g.35500098C=CA1620929095TULP1c.1378G= (p.Glu460=)
c.1219G= (p.Glu407=)
n.554G=
c.1372G= (p.Glu458=)
6g.35500098C>GCA3772562TULP1c.1378G>C (p.Glu460Gln)
c.1219G>C (p.Glu407Gln)
n.554G>C
c.1372G>C (p.Glu458Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500098C>TCA363778880TULP1c.1378G>A (p.Glu460Lys)
c.1219G>A (p.Glu407Lys)
n.554G>A
c.1372G>A (p.Glu458Lys)
 ClinVar
6g.35500099T>ACA449942425TULP1c.1377A>T (p.Ile459=)
c.1218A>T (p.Ile406=)
n.553A>T
c.1371A>T (p.Ile457=)
 gnomAD v4
6g.35500099T>CCA363778882TULP1c.1377A>G (p.Ile459Met)
c.1218A>G (p.Ile406Met)
n.553A>G
c.1371A>G (p.Ile457Met)
 gnomAD v4
6g.35500099T>GCA449942426TULP1c.1377A>C (p.Ile459=)
c.1218A>C (p.Ile406=)
n.553A>C
c.1371A>C (p.Ile457=)
6g.35500100_35500101delCA2695206260TULP1c.1376_1377del (p.Ile459ArgfsTer12)
c.1217_1218del (p.Ile406ArgfsTer12)
n.552_553del
c.1370_1371del (p.Ile457ArgfsTer12)
6g.35500100A=CA1620929101TULP1c.1376T= (p.Ile459=)
c.1217T= (p.Ile406=)
n.552T=
c.1370T= (p.Ile457=)
6g.35500100A>CCA363778883TULP1c.1376T>G (p.Ile459Arg)
c.1217T>G (p.Ile406Arg)
n.552T>G
c.1370T>G (p.Ile457Arg)
6g.35500100A>GCA240311TULP1c.1376T>C (p.Ile459Thr)
c.1217T>C (p.Ile406Thr)
n.552T>C
c.1370T>C (p.Ile457Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35500100A>TCA254155TULP1c.1376T>A (p.Ile459Lys)
c.1217T>A (p.Ile406Lys)
n.552T>A
c.1370T>A (p.Ile457Lys)
 ClinVar dbSNP gnomAD v4
6g.35500101T>ACA363778888TULP1c.1375A>T (p.Ile459Leu)
c.1216A>T (p.Ile406Leu)
n.551A>T
c.1369A>T (p.Ile457Leu)
6g.35500101T>CCA363778887TULP1c.1375A>G (p.Ile459Val)
c.1216A>G (p.Ile406Val)
n.551A>G
c.1369A>G (p.Ile457Val)
6g.35500101T>GCA227703TULP1c.1375A>C (p.Ile459Leu)
c.1216A>C (p.Ile406Leu)
n.551A>C
c.1369A>C (p.Ile457Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.35500101T=CA1620929107TULP1c.1375A= (p.Ile459=)
c.1216A= (p.Ile406=)
n.551A=
c.1369A= (p.Ile457=)
6g.35500102G>ACA137278226TULP1c.1374C>T (p.Leu458=)
c.1215C>T (p.Leu405=)
n.550C>T
c.1368C>T (p.Leu456=)
 dbSNP gnomAD v4
6g.35500102G>CCA449942430TULP1c.1374C>G (p.Leu458=)
c.1215C>G (p.Leu405=)
n.550C>G
c.1368C>G (p.Leu456=)
6g.35500102G=CA1620929111TULP1c.1374C= (p.Leu458=)
c.1215C= (p.Leu405=)
n.550C=
c.1368C= (p.Leu456=)
6g.35500102G>TCA449942431TULP1c.1374C>A (p.Leu458=)
c.1215C>A (p.Leu405=)
n.550C>A
c.1368C>A (p.Leu456=)
6g.35500103A>CCA363778889TULP1c.1373T>G (p.Leu458Arg)
c.1214T>G (p.Leu405Arg)
n.549T>G
c.1367T>G (p.Leu456Arg)
6g.35500103A>GCA363778890TULP1c.1373T>C (p.Leu458Pro)
c.1214T>C (p.Leu405Pro)
n.549T>C
c.1367T>C (p.Leu456Pro)
6g.35500103A>TCA363778891TULP1c.1373T>A (p.Leu458His)
c.1214T>A (p.Leu405His)
n.549T>A
c.1367T>A (p.Leu456His)
6g.35500104G>ACA363778892TULP1c.1372C>T (p.Leu458Phe)
c.1213C>T (p.Leu405Phe)
n.548C>T
c.1366C>T (p.Leu456Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35500104G>CCA363778893TULP1c.1372C>G (p.Leu458Val)
c.1213C>G (p.Leu405Val)
n.548C>G
c.1366C>G (p.Leu456Val)
6g.35500104G=CA1620929115TULP1c.1372C= (p.Leu458=)
c.1213C= (p.Leu405=)
n.548C=
c.1366C= (p.Leu456=)
6g.35500104G>TCA363778894TULP1c.1372C>A (p.Leu458Ile)
c.1213C>A (p.Leu405Ile)
n.548C>A
c.1366C>A (p.Leu456Ile)
6g.35500105G>ACA449942432TULP1c.1371C>T (p.Ser457=)
c.1212C>T (p.Ser404=)
n.547C>T
c.1365C>T (p.Ser455=)
6g.35500105G>CCA363778895TULP1c.1371C>G (p.Ser457Arg)
c.1212C>G (p.Ser404Arg)
n.547C>G
c.1365C>G (p.Ser455Arg)
6g.35500105G>TCA363778896TULP1c.1371C>A (p.Ser457Arg)
c.1212C>A (p.Ser404Arg)
n.547C>A
c.1365C>A (p.Ser455Arg)
6g.35500106C>ACA363778897TULP1c.1370G>T (p.Ser457Ile)
c.1211G>T (p.Ser404Ile)
n.546G>T
c.1364G>T (p.Ser455Ile)
 gnomAD v4
6g.35500106C=CA1620929119TULP1c.1370G= (p.Ser457=)
c.1211G= (p.Ser404=)
n.546G=
c.1364G= (p.Ser455=)
6g.35500106C>GCA363778898TULP1c.1370G>C (p.Ser457Thr)
c.1211G>C (p.Ser404Thr)
n.546G>C
c.1364G>C (p.Ser455Thr)
6g.35500106C>TCA363778899TULP1c.1370G>A (p.Ser457Asn)
c.1211G>A (p.Ser404Asn)
n.546G>A
c.1364G>A (p.Ser455Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.35500108_35500118delCA2678413971TULP1c.1360_1370del (p.Thr454ProfsTer14)
c.1201_1211del (p.Thr401ProfsTer14)
n.536_546del
c.1354_1364del (p.Thr452ProfsTer14)
 gnomAD v4
6g.35500107T>ACA363778900TULP1c.1369A>T (p.Ser457Cys)
c.1210A>T (p.Ser404Cys)
n.545A>T
c.1363A>T (p.Ser455Cys)
6g.35500107T>CCA363778901TULP1c.1369A>G (p.Ser457Gly)
c.1210A>G (p.Ser404Gly)
n.545A>G
c.1363A>G (p.Ser455Gly)
6g.35500107T>GCA363778902TULP1c.1369A>C (p.Ser457Arg)
c.1210A>C (p.Ser404Arg)
n.545A>C
c.1363A>C (p.Ser455Arg)
6g.35500108C>ACA363778903TULP1c.1368G>T (p.Glu456Asp)
c.1209G>T (p.Glu403Asp)
n.544G>T
c.1362G>T (p.Glu454Asp)
6g.35500108C=CA1620929125TULP1c.1368G= (p.Glu456=)
c.1209G= (p.Glu403=)
n.544G=
c.1362G= (p.Glu454=)
6g.35500108C>GCA363778904TULP1c.1368G>C (p.Glu456Asp)
c.1209G>C (p.Glu403Asp)
n.544G>C
c.1362G>C (p.Glu454Asp)
6g.35500108C>TCA449942435TULP1c.1368G>A (p.Glu456=)
c.1209G>A (p.Glu403=)
n.544G>A
c.1362G>A (p.Glu454=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35500109T>ACA363778905TULP1c.1367A>T (p.Glu456Val)
c.1208A>T (p.Glu403Val)
n.543A>T
c.1361A>T (p.Glu454Val)
6g.35500109T>CCA363778906TULP1c.1367A>G (p.Glu456Gly)
c.1208A>G (p.Glu403Gly)
n.543A>G
c.1361A>G (p.Glu454Gly)
6g.35500109T>GCA363778907TULP1c.1367A>C (p.Glu456Ala)
c.1208A>C (p.Glu403Ala)
n.543A>C
c.1361A>C (p.Glu454Ala)
6g.35500110C>ACA363778908TULP1c.1366G>T (p.Glu456Ter)
c.1207G>T (p.Glu403Ter)
n.542G>T
c.1360G>T (p.Glu454Ter)
6g.35500110C>GCA363778909TULP1c.1366G>C (p.Glu456Gln)
c.1207G>C (p.Glu403Gln)
n.542G>C
c.1360G>C (p.Glu454Gln)
 gnomAD v4
6g.35500110C>TCA363778910TULP1c.1366G>A (p.Glu456Lys)
c.1207G>A (p.Glu403Lys)
n.542G>A
c.1360G>A (p.Glu454Lys)
 gnomAD v4

Number of alleles fetched