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.35500005A=CA1620928943TULP1c.1471T= (p.Phe491=)
c.1312T= (p.Phe438=)
c.1465T= (p.Phe489=)
6g.35500005A>CCA363778504TULP1c.1471T>G (p.Phe491Val)
c.1312T>G (p.Phe438Val)
c.1465T>G (p.Phe489Val)
6g.35500005A>GCA254154TULP1c.1471T>C (p.Phe491Leu)
c.1312T>C (p.Phe438Leu)
c.1465T>C (p.Phe489Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500005A>TCA363778505TULP1c.1471T>A (p.Phe491Ile)
c.1312T>A (p.Phe438Ile)
c.1465T>A (p.Phe489Ile)
6g.35500006G>ACA449942297TULP1c.1470C>T (p.Asn490=)
c.1311C>T (p.Asn437=)
c.1464C>T (p.Asn488=)
6g.35500006G>CCA363778507TULP1c.1470C>G (p.Asn490Lys)
c.1311C>G (p.Asn437Lys)
c.1464C>G (p.Asn488Lys)
6g.35500006G>TCA363778508TULP1c.1470C>A (p.Asn490Lys)
c.1311C>A (p.Asn437Lys)
c.1464C>A (p.Asn488Lys)
 gnomAD v4 COSMIC
6g.35500007T>ACA363778510TULP1c.1469A>T (p.Asn490Ile)
c.1310A>T (p.Asn437Ile)
c.1463A>T (p.Asn488Ile)
6g.35500007T>CCA363778511TULP1c.1469A>G (p.Asn490Ser)
c.1310A>G (p.Asn437Ser)
c.1463A>G (p.Asn488Ser)
6g.35500007T>GCA363778513TULP1c.1469A>C (p.Asn490Thr)
c.1310A>C (p.Asn437Thr)
c.1463A>C (p.Asn488Thr)
6g.35500008T>ACA363778519TULP1c.1468A>T (p.Asn490Tyr)
c.1309A>T (p.Asn437Tyr)
c.1462A>T (p.Asn488Tyr)
6g.35500008T>CCA363778517TULP1c.1468A>G (p.Asn490Asp)
c.1309A>G (p.Asn437Asp)
c.1462A>G (p.Asn488Asp)
6g.35500008T>GCA363778516TULP1c.1468A>C (p.Asn490His)
c.1309A>C (p.Asn437His)
c.1462A>C (p.Asn488His)
6g.35500009C>ACA363778521TULP1c.1467G>T (p.Lys489Asn)
c.1308G>T (p.Lys436Asn)
c.1461G>T (p.Lys487Asn)
6g.35500009C>GCA363778522TULP1c.1467G>C (p.Lys489Asn)
c.1308G>C (p.Lys436Asn)
c.1461G>C (p.Lys487Asn)
6g.35500009C>TCA449942301TULP1c.1467G>A (p.Lys489=)
c.1308G>A (p.Lys436=)
c.1461G>A (p.Lys487=)
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=)

Number of alleles fetched