Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.35500001_35500012dup | CA2695206259 | TULP1 | c.1464_1475dup (p.Phe491_Gln492insHisLysAsnPhe) c.1305_1316dup (p.Phe438_Gln439insHisLysAsnPhe) c.1458_1469dup (p.Phe489_Gln490insHisLysAsnPhe) | |
6 | g.35500003G>A | CA449942296 | TULP1 | c.1473C>T (p.Phe491=) c.1314C>T (p.Phe438=) c.1467C>T (p.Phe489=) | |
6 | g.35500003G>C | CA363778499 | TULP1 | c.1473C>G (p.Phe491Leu) c.1314C>G (p.Phe438Leu) c.1467C>G (p.Phe489Leu) | |
6 | g.35500003G>T | CA363778500 | TULP1 | c.1473C>A (p.Phe491Leu) c.1314C>A (p.Phe438Leu) c.1467C>A (p.Phe489Leu) | gnomAD v4 |
6 | g.35500004A= | CA1620928940 | TULP1 | c.1472T= (p.Phe491=) c.1313T= (p.Phe438=) c.1466T= (p.Phe489=) | |
6 | g.35500004A>C | CA363778501 | TULP1 | c.1472T>G (p.Phe491Cys) c.1313T>G (p.Phe438Cys) c.1466T>G (p.Phe489Cys) | |
6 | g.35500004A>G | CA363778502 | TULP1 | c.1472T>C (p.Phe491Ser) c.1313T>C (p.Phe438Ser) c.1466T>C (p.Phe489Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35500004A>T | CA363778503 | TULP1 | c.1472T>A (p.Phe491Tyr) c.1313T>A (p.Phe438Tyr) c.1466T>A (p.Phe489Tyr) | |
6 | g.35500005A= | CA1620928943 | TULP1 | c.1471T= (p.Phe491=) c.1312T= (p.Phe438=) c.1465T= (p.Phe489=) | |
6 | g.35500005A>C | CA363778504 | TULP1 | c.1471T>G (p.Phe491Val) c.1312T>G (p.Phe438Val) c.1465T>G (p.Phe489Val) | |
6 | g.35500005A>G | CA254154 | TULP1 | c.1471T>C (p.Phe491Leu) c.1312T>C (p.Phe438Leu) c.1465T>C (p.Phe489Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500005A>T | CA363778505 | TULP1 | c.1471T>A (p.Phe491Ile) c.1312T>A (p.Phe438Ile) c.1465T>A (p.Phe489Ile) | |
6 | g.35500006G>A | CA449942297 | TULP1 | c.1470C>T (p.Asn490=) c.1311C>T (p.Asn437=) c.1464C>T (p.Asn488=) | |
6 | g.35500006G>C | CA363778507 | TULP1 | c.1470C>G (p.Asn490Lys) c.1311C>G (p.Asn437Lys) c.1464C>G (p.Asn488Lys) | |
6 | g.35500006G>T | CA363778508 | TULP1 | c.1470C>A (p.Asn490Lys) c.1311C>A (p.Asn437Lys) c.1464C>A (p.Asn488Lys) | gnomAD v4 COSMIC |
6 | g.35500007T>A | CA363778510 | TULP1 | c.1469A>T (p.Asn490Ile) c.1310A>T (p.Asn437Ile) c.1463A>T (p.Asn488Ile) | |
6 | g.35500007T>C | CA363778511 | TULP1 | c.1469A>G (p.Asn490Ser) c.1310A>G (p.Asn437Ser) c.1463A>G (p.Asn488Ser) | |
6 | g.35500007T>G | CA363778513 | TULP1 | c.1469A>C (p.Asn490Thr) c.1310A>C (p.Asn437Thr) c.1463A>C (p.Asn488Thr) | |
6 | g.35500008T>A | CA363778519 | TULP1 | c.1468A>T (p.Asn490Tyr) c.1309A>T (p.Asn437Tyr) c.1462A>T (p.Asn488Tyr) | |
6 | g.35500008T>C | CA363778517 | TULP1 | c.1468A>G (p.Asn490Asp) c.1309A>G (p.Asn437Asp) c.1462A>G (p.Asn488Asp) | |
6 | g.35500008T>G | CA363778516 | TULP1 | c.1468A>C (p.Asn490His) c.1309A>C (p.Asn437His) c.1462A>C (p.Asn488His) | |
6 | g.35500009C>A | CA363778521 | TULP1 | c.1467G>T (p.Lys489Asn) c.1308G>T (p.Lys436Asn) c.1461G>T (p.Lys487Asn) | |
6 | g.35500009C>G | CA363778522 | TULP1 | c.1467G>C (p.Lys489Asn) c.1308G>C (p.Lys436Asn) c.1461G>C (p.Lys487Asn) | |
6 | g.35500009C>T | CA449942301 | TULP1 | c.1467G>A (p.Lys489=) c.1308G>A (p.Lys436=) c.1461G>A (p.Lys487=) | |
6 | g.35500010T>A | CA363778523 | TULP1 | c.1466A>T (p.Lys489Met) c.1307A>T (p.Lys436Met) c.1460A>T (p.Lys487Met) | |
6 | g.35500010T>C | CA227705 | TULP1 | c.1466A>G (p.Lys489Arg) c.1307A>G (p.Lys436Arg) c.1460A>G (p.Lys487Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500010T>G | CA363778526 | TULP1 | c.1466A>C (p.Lys489Thr) c.1307A>C (p.Lys436Thr) c.1460A>C (p.Lys487Thr) | |
6 | g.35500010T= | CA1620928945 | TULP1 | c.1466A= (p.Lys489=) c.1307A= (p.Lys436=) c.1460A= (p.Lys487=) | |
6 | g.35500011T>A | CA363778528 | TULP1 | c.1465A>T (p.Lys489Ter) c.1306A>T (p.Lys436Ter) c.1459A>T (p.Lys487Ter) | |
6 | g.35500011T>C | CA363778530 | TULP1 | c.1465A>G (p.Lys489Glu) c.1306A>G (p.Lys436Glu) c.1459A>G (p.Lys487Glu) | |
6 | g.35500011T>G | CA363778532 | TULP1 | c.1465A>C (p.Lys489Gln) c.1306A>C (p.Lys436Gln) c.1459A>C (p.Lys487Gln) | |
6 | g.35500012G>A | CA449942308 | TULP1 | c.1464C>T (p.Val488=) c.1305C>T (p.Val435=) c.1458C>T (p.Val486=) | dbSNP |
6 | g.35500012G>C | CA449942307 | TULP1 | c.1464C>G (p.Val488=) c.1305C>G (p.Val435=) c.1458C>G (p.Val486=) | |
6 | g.35500012G= | CA1620928948 | TULP1 | c.1464C= (p.Val488=) c.1305C= (p.Val435=) c.1458C= (p.Val486=) | |
6 | g.35500012G>T | CA449942306 | TULP1 | c.1464C>A (p.Val488=) c.1305C>A (p.Val435=) c.1458C>A (p.Val486=) | gnomAD v4 |
6 | g.35500013A>C | CA363778533 | TULP1 | c.1463T>G (p.Val488Gly) c.1304T>G (p.Val435Gly) c.1457T>G (p.Val486Gly) | |
6 | g.35500013A>G | CA363778536 | TULP1 | c.1463T>C (p.Val488Ala) c.1304T>C (p.Val435Ala) c.1457T>C (p.Val486Ala) | |
6 | g.35500013A>T | CA363778538 | TULP1 | c.1463T>A (p.Val488Asp) c.1304T>A (p.Val435Asp) c.1457T>A (p.Val486Asp) | gnomAD v4 |
6 | g.35500014C>A | CA363778543 | TULP1 | c.1462G>T (p.Val488Phe) c.1303G>T (p.Val435Phe) c.1456G>T (p.Val486Phe) | |
6 | g.35500014C>G | CA363778541 | TULP1 | c.1462G>C (p.Val488Leu) c.1303G>C (p.Val435Leu) c.1456G>C (p.Val486Leu) | |
6 | g.35500014C>T | CA363778539 | TULP1 | c.1462G>A (p.Val488Ile) c.1303G>A (p.Val435Ile) c.1456G>A (p.Val486Ile) | |
6 | g.35500015T>A | CA449942313 | TULP1 | c.1461A>T (p.Ser487=) c.1302A>T (p.Ser434=) c.1455A>T (p.Ser485=) | |
6 | g.35500015T>C | CA449942314 | TULP1 | c.1461A>G (p.Ser487=) c.1302A>G (p.Ser434=) c.1455A>G (p.Ser485=) | ClinVar |
6 | g.35500015T>G | CA449942315 | TULP1 | c.1461A>C (p.Ser487=) c.1302A>C (p.Ser434=) c.1455A>C (p.Ser485=) | dbSNP |
6 | g.35500015T= | CA1620928951 | TULP1 | c.1461A= (p.Ser487=) c.1302A= (p.Ser434=) c.1455A= (p.Ser485=) | |
6 | g.35500015_35500023delinsTGAGGCCTG | CA1620928950 | TULP1 | c.1453_1461delinsCAGGCCTCA (p.Gln485=) c.1294_1302delinsCAGGCCTCA (p.Gln432=) c.1447_1455delinsCAGGCCTCA (p.Gln483=) | |
6 | g.35500016G>A | CA363778545 | TULP1 | c.1460C>T (p.Ser487Leu) c.1301C>T (p.Ser434Leu) c.1454C>T (p.Ser485Leu) | |
6 | g.35500016G>C | CA363778547 | TULP1 | c.1460C>G (p.Ser487Ter) c.1301C>G (p.Ser434Ter) c.1454C>G (p.Ser485Ter) | |
6 | g.35500016G>T | CA363778549 | TULP1 | c.1460C>A (p.Ser487Ter) c.1301C>A (p.Ser434Ter) c.1454C>A (p.Ser485Ter) | |
6 | g.35500017_35500024del | CA824214121 | TULP1 | c.1453_1460del (p.Gln485SerfsTer10) c.1294_1301del (p.Gln432SerfsTer10) c.1447_1454del (p.Gln483SerfsTer10) | ClinVar dbSNP gnomAD v4 |
6 | g.35500017A>C | CA363778551 | TULP1 | c.1459T>G (p.Ser487Ala) c.1300T>G (p.Ser434Ala) c.1453T>G (p.Ser485Ala) | |
6 | g.35500017A>G | CA363778553 | TULP1 | c.1459T>C (p.Ser487Pro) c.1300T>C (p.Ser434Pro) c.1453T>C (p.Ser485Pro) | |
6 | g.35500017A>T | CA363778555 | TULP1 | c.1459T>A (p.Ser487Thr) c.1300T>A (p.Ser434Thr) c.1453T>A (p.Ser485Thr) | |
6 | g.35500018G>A | CA3772550 | TULP1 | c.1458C>T (p.Ala486=) c.1299C>T (p.Ala433=) c.1452C>T (p.Ala484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500018G>C | CA449942317 | TULP1 | c.1458C>G (p.Ala486=) c.1299C>G (p.Ala433=) c.1452C>G (p.Ala484=) | |
6 | g.35500018G= | CA1620928956 | TULP1 | c.1458C= (p.Ala486=) c.1299C= (p.Ala433=) c.1452C= (p.Ala484=) | |
6 | g.35500018G>T | CA449942316 | TULP1 | c.1458C>A (p.Ala486=) c.1299C>A (p.Ala433=) c.1452C>A (p.Ala484=) | |
6 | g.35500019dup | CA2838670921 | TULP1 | c.1458dup (p.Ser487LeufsTer11) c.1299dup (p.Ser434LeufsTer11) c.1452dup (p.Ser485LeufsTer11) | |
6 | g.35500019G>A | CA363778557 | TULP1 | c.1457C>T (p.Ala486Val) c.1298C>T (p.Ala433Val) c.1451C>T (p.Ala484Val) | gnomAD v4 |
6 | g.35500019G>C | CA363778559 | TULP1 | c.1457C>G (p.Ala486Gly) c.1298C>G (p.Ala433Gly) c.1451C>G (p.Ala484Gly) | |
6 | g.35500019G= | CA1620928959 | TULP1 | c.1457C= (p.Ala486=) c.1298C= (p.Ala433=) c.1451C= (p.Ala484=) | |
6 | g.35500019G>T | CA137278065 | TULP1 | c.1457C>A (p.Ala486Asp) c.1298C>A (p.Ala433Asp) c.1451C>A (p.Ala484Asp) | ClinVar dbSNP gnomAD v4 |
6 | g.35500020C>A | CA363778561 | TULP1 | c.1456G>T (p.Ala486Ser) c.1297G>T (p.Ala433Ser) c.1450G>T (p.Ala484Ser) | |
6 | g.35500020C= | CA1620928961 | TULP1 | c.1456G= (p.Ala486=) c.1297G= (p.Ala433=) c.1450G= (p.Ala484=) | |
6 | g.35500020C>G | CA363778563 | TULP1 | c.1456G>C (p.Ala486Pro) c.1297G>C (p.Ala433Pro) c.1450G>C (p.Ala484Pro) | |
6 | g.35500020C>T | CA363778565 | TULP1 | c.1456G>A (p.Ala486Thr) c.1297G>A (p.Ala433Thr) c.1450G>A (p.Ala484Thr) | dbSNP gnomAD v4 |
6 | g.35500021dup | CA2840855584 | TULP1 | c.1456dup (p.Ala486GlyfsTer12) c.1297dup (p.Ala433GlyfsTer12) c.1450dup (p.Ala484GlyfsTer12) | |
6 | g.35500021C>A | CA363778568 | TULP1 | c.1455G>T (p.Gln485His) c.1296G>T (p.Gln432His) c.1449G>T (p.Gln483His) | |
6 | g.35500021C>G | CA363778567 | TULP1 | c.1455G>C (p.Gln485His) c.1296G>C (p.Gln432His) c.1449G>C (p.Gln483His) | |
6 | g.35500021C>T | CA449942320 | TULP1 | c.1455G>A (p.Gln485=) c.1296G>A (p.Gln432=) c.1449G>A (p.Gln483=) | gnomAD v4 |
6 | g.35500022T>A | CA363778570 | TULP1 | c.1454A>T (p.Gln485Leu) c.1295A>T (p.Gln432Leu) c.1448A>T (p.Gln483Leu) | |
6 | g.35500022T>C | CA363778571 | TULP1 | c.1454A>G (p.Gln485Arg) c.1295A>G (p.Gln432Arg) c.1448A>G (p.Gln483Arg) | |
6 | g.35500022T>G | CA363778573 | TULP1 | c.1454A>C (p.Gln485Pro) c.1295A>C (p.Gln432Pro) c.1448A>C (p.Gln483Pro) | |
6 | g.35500022_35500046delinsTGGGTGACCCGGCCTTGGAAGTTGA | CA1620928963 | TULP1 | c.1430_1454delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu477=) c.1271_1295delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu424=) c.1424_1448delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu475=) | |
6 | g.35500023G>A | CA363778574 | TULP1 | c.1453C>T (p.Gln485Ter) c.1294C>T (p.Gln432Ter) c.1447C>T (p.Gln483Ter) | gnomAD v4 |
6 | g.35500023G>C | CA363778575 | TULP1 | c.1453C>G (p.Gln485Glu) c.1294C>G (p.Gln432Glu) c.1447C>G (p.Gln483Glu) | |
6 | g.35500023G>T | CA363778577 | TULP1 | c.1453C>A (p.Gln485Lys) c.1294C>A (p.Gln432Lys) c.1447C>A (p.Gln483Lys) | |
6 | g.35500028_35500051del | CA1620928965 | TULP1 | c.1430_1453del (p.Leu477_Thr484del) c.1271_1294del (p.Leu424_Thr431del) c.1424_1447del (p.Leu475_Thr482del) | ClinVar dbSNP gnomAD v4 |
6 | g.35500024G>A | CA449942324 | TULP1 | c.1452C>T (p.Thr484=) c.1293C>T (p.Thr431=) c.1446C>T (p.Thr482=) | |
6 | g.35500024G>C | CA449942326 | TULP1 | c.1452C>G (p.Thr484=) c.1293C>G (p.Thr431=) c.1446C>G (p.Thr482=) | |
6 | g.35500024G>T | CA449942325 | TULP1 | c.1452C>A (p.Thr484=) c.1293C>A (p.Thr431=) c.1446C>A (p.Thr482=) | |
6 | g.35500025G>A | CA137278069 | TULP1 | c.1451C>T (p.Thr484Ile) c.1292C>T (p.Thr431Ile) c.1445C>T (p.Thr482Ile) | dbSNP |
6 | g.35500025G>C | CA363778581 | TULP1 | c.1451C>G (p.Thr484Ser) c.1292C>G (p.Thr431Ser) c.1445C>G (p.Thr482Ser) | gnomAD v4 |
6 | g.35500025G= | CA1620928967 | TULP1 | c.1451C= (p.Thr484=) c.1292C= (p.Thr431=) c.1445C= (p.Thr482=) | |
6 | g.35500025G>T | CA363778579 | TULP1 | c.1451C>A (p.Thr484Asn) c.1292C>A (p.Thr431Asn) c.1445C>A (p.Thr482Asn) | |
6 | g.35500026T>A | CA363778584 | TULP1 | c.1450A>T (p.Thr484Ser) c.1291A>T (p.Thr431Ser) c.1444A>T (p.Thr482Ser) | |
6 | g.35500026T>C | CA363778586 | TULP1 | c.1450A>G (p.Thr484Ala) c.1291A>G (p.Thr431Ala) c.1444A>G (p.Thr482Ala) | |
6 | g.35500026T>G | CA363778587 | TULP1 | c.1450A>C (p.Thr484Pro) c.1291A>C (p.Thr431Pro) c.1444A>C (p.Thr482Pro) | |
6 | g.35500027G>A | CA449942330 | TULP1 | c.1449C>T (p.Val483=) c.1290C>T (p.Val430=) c.1443C>T (p.Val481=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500027G>C | CA449942331 | TULP1 | c.1449C>G (p.Val483=) c.1290C>G (p.Val430=) c.1443C>G (p.Val481=) | |
6 | g.35500027G= | CA1620928970 | TULP1 | c.1449C= (p.Val483=) c.1290C= (p.Val430=) c.1443C= (p.Val481=) | |
6 | g.35500027G>T | CA449942332 | TULP1 | c.1449C>A (p.Val483=) c.1290C>A (p.Val430=) c.1443C>A (p.Val481=) | gnomAD v4 |
6 | g.35500028A= | CA1620928973 | TULP1 | c.1448T= (p.Val483=) c.1289T= (p.Val430=) c.1442T= (p.Val481=) | |
6 | g.35500028A>C | CA363778588 | TULP1 | c.1448T>G (p.Val483Gly) c.1289T>G (p.Val430Gly) c.1442T>G (p.Val481Gly) | dbSNP |
6 | g.35500028A>G | CA363778590 | TULP1 | c.1448T>C (p.Val483Ala) c.1289T>C (p.Val430Ala) c.1442T>C (p.Val481Ala) | |
6 | g.35500028A>T | CA363778592 | TULP1 | c.1448T>A (p.Val483Asp) c.1289T>A (p.Val430Asp) c.1442T>A (p.Val481Asp) | |
6 | g.35500029C>A | CA363778597 | TULP1 | c.1447G>T (p.Val483Phe) c.1288G>T (p.Val430Phe) c.1441G>T (p.Val481Phe) | |
6 | g.35500029C= | CA1620928976 | TULP1 | c.1447G= (p.Val483=) c.1288G= (p.Val430=) c.1441G= (p.Val481=) | |
6 | g.35500029C>G | CA363778594 | TULP1 | c.1447G>C (p.Val483Leu) c.1288G>C (p.Val430Leu) c.1441G>C (p.Val481Leu) | |
6 | g.35500029C>T | CA363778595 | TULP1 | c.1447G>A (p.Val483Ile) c.1288G>A (p.Val430Ile) c.1441G>A (p.Val481Ile) | ClinVar dbSNP |
6 | g.35500030C>A | CA449942336 | TULP1 | c.1446G>T (p.Arg482=) c.1287G>T (p.Arg429=) c.1440G>T (p.Arg480=) | |
6 | g.35500030C>G | CA449942337 | TULP1 | c.1446G>C (p.Arg482=) c.1287G>C (p.Arg429=) c.1440G>C (p.Arg480=) | |
6 | g.35500030C>T | CA449942338 | TULP1 | c.1446G>A (p.Arg482=) c.1287G>A (p.Arg429=) c.1440G>A (p.Arg480=) | |
6 | g.35500031C>A | CA363778599 | TULP1 | c.1445G>T (p.Arg482Leu) c.1286G>T (p.Arg429Leu) c.1439G>T (p.Arg480Leu) | |
6 | g.35500031C= | CA1620928980 | TULP1 | c.1445G= (p.Arg482=) c.1286G= (p.Arg429=) c.1439G= (p.Arg480=) | |
6 | g.35500031C>G | CA363778601 | TULP1 | c.1445G>C (p.Arg482Pro) c.1286G>C (p.Arg429Pro) c.1439G>C (p.Arg480Pro) | |
6 | g.35500031C>T | CA137278071 | TULP1 | c.1445G>A (p.Arg482Gln) c.1286G>A (p.Arg429Gln) c.1439G>A (p.Arg480Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500032G>A | CA254157 | TULP1 | c.1444C>T (p.Arg482Trp) c.1285C>T (p.Arg429Trp) c.1438C>T (p.Arg480Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500032G>C | CA363778604 | TULP1 | c.1444C>G (p.Arg482Gly) c.1285C>G (p.Arg429Gly) c.1438C>G (p.Arg480Gly) | |
6 | g.35500032G= | CA1620928986 | TULP1 | c.1444C= (p.Arg482=) c.1285C= (p.Arg429=) c.1438C= (p.Arg480=) | |
6 | g.35500032G>T | CA449942341 | TULP1 | c.1444C>A (p.Arg482=) c.1285C>A (p.Arg429=) c.1438C>A (p.Arg480=) | |
6 | g.35500033G>A | CA449942345 | TULP1 | c.1443C>T (p.Gly481=) c.1284C>T (p.Gly428=) c.1437C>T (p.Gly479=) | ClinVar dbSNP |
6 | g.35500033G>C | CA449942342 | TULP1 | c.1443C>G (p.Gly481=) c.1284C>G (p.Gly428=) c.1437C>G (p.Gly479=) | ClinVar dbSNP |
6 | g.35500033G= | CA1620928990 | TULP1 | c.1443C= (p.Gly481=) c.1284C= (p.Gly428=) c.1437C= (p.Gly479=) | |
6 | g.35500033G>T | CA449942344 | TULP1 | c.1443C>A (p.Gly481=) c.1284C>A (p.Gly428=) c.1437C>A (p.Gly479=) | |
6 | g.35500034C>A | CA363778606 | TULP1 | c.1442G>T (p.Gly481Val) c.1283G>T (p.Gly428Val) c.1436G>T (p.Gly479Val) | |
6 | g.35500034C>G | CA363778608 | TULP1 | c.1442G>C (p.Gly481Ala) c.1283G>C (p.Gly428Ala) c.1436G>C (p.Gly479Ala) | |
6 | g.35500034C>T | CA363778610 | TULP1 | c.1442G>A (p.Gly481Asp) c.1283G>A (p.Gly428Asp) c.1436G>A (p.Gly479Asp) | |
6 | g.35500035C>A | CA363778612 | TULP1 | c.1441G>T (p.Gly481Cys) c.1282G>T (p.Gly428Cys) c.1435G>T (p.Gly479Cys) | |
6 | g.35500035C>G | CA363778614 | TULP1 | c.1441G>C (p.Gly481Arg) c.1282G>C (p.Gly428Arg) c.1435G>C (p.Gly479Arg) | |
6 | g.35500035C>T | CA363778635 | TULP1 | c.1441G>A (p.Gly481Ser) c.1282G>A (p.Gly428Ser) c.1435G>A (p.Gly479Ser) | |
6 | g.35500036T>A | CA137278073 | TULP1 | c.1440A>T (p.Gln480His) c.1281A>T (p.Gln427His) c.1434A>T (p.Gln478His) | dbSNP |
6 | g.35500036T>C | CA449942349 | TULP1 | c.1440A>G (p.Gln480=) c.1281A>G (p.Gln427=) c.1434A>G (p.Gln478=) | |
6 | g.35500036T>G | CA363778638 | TULP1 | c.1440A>C (p.Gln480His) c.1281A>C (p.Gln427His) c.1434A>C (p.Gln478His) | gnomAD v4 |
6 | g.35500036T= | CA1620928992 | TULP1 | c.1440A= (p.Gln480=) c.1281A= (p.Gln427=) c.1434A= (p.Gln478=) | |
6 | g.35500037dup | CA2838670918 | TULP1 | c.1440dup (p.Gly481ArgfsTer17) c.1281dup (p.Gly428ArgfsTer17) c.1434dup (p.Gly479ArgfsTer17) | |
6 | g.35500037T>A | CA363778646 | TULP1 | c.1439A>T (p.Gln480Leu) c.1280A>T (p.Gln427Leu) c.1433A>T (p.Gln478Leu) | |
6 | g.35500037T>C | CA363778642 | TULP1 | c.1439A>G (p.Gln480Arg) c.1280A>G (p.Gln427Arg) c.1433A>G (p.Gln478Arg) | |
6 | g.35500037T>G | CA363778644 | TULP1 | c.1439A>C (p.Gln480Pro) c.1280A>C (p.Gln427Pro) c.1433A>C (p.Gln478Pro) | |
6 | g.35500038G>A | CA363778648 | TULP1 | c.1438C>T (p.Gln480Ter) c.1279C>T (p.Gln427Ter) c.1432C>T (p.Gln478Ter) | |
6 | g.35500038G>C | CA363778649 | TULP1 | c.1438C>G (p.Gln480Glu) c.1279C>G (p.Gln427Glu) c.1432C>G (p.Gln478Glu) | |
6 | g.35500038G>T | CA363778650 | TULP1 | c.1438C>A (p.Gln480Lys) c.1279C>A (p.Gln427Lys) c.1432C>A (p.Gln478Lys) | |
6 | g.35500039G>A | CA3772551 | TULP1 | c.1437C>T (p.Phe479=) c.1278C>T (p.Phe426=) c.1431C>T (p.Phe477=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500039G>C | CA363778653 | TULP1 | c.1437C>G (p.Phe479Leu) c.1278C>G (p.Phe426Leu) c.1431C>G (p.Phe477Leu) | |
6 | g.35500039G= | CA1620928997 | TULP1 | c.1437C= (p.Phe479=) c.1278C= (p.Phe426=) c.1431C= (p.Phe477=) | |
6 | g.35500039G>T | CA363778655 | TULP1 | c.1437C>A (p.Phe479Leu) c.1278C>A (p.Phe426Leu) c.1431C>A (p.Phe477Leu) | |
6 | g.35500040A>C | CA363778660 | TULP1 | c.1436T>G (p.Phe479Cys) c.1277T>G (p.Phe426Cys) c.1430T>G (p.Phe477Cys) | |
6 | g.35500040A>G | CA363778656 | TULP1 | c.1436T>C (p.Phe479Ser) c.1277T>C (p.Phe426Ser) c.1430T>C (p.Phe477Ser) | |
6 | g.35500040A>T | CA363778658 | TULP1 | c.1436T>A (p.Phe479Tyr) c.1277T>A (p.Phe426Tyr) c.1430T>A (p.Phe477Tyr) | |
6 | g.35500041A>C | CA363778662 | TULP1 | c.1435T>G (p.Phe479Val) c.1276T>G (p.Phe426Val) c.1429T>G (p.Phe477Val) | |
6 | g.35500041A>G | CA363778663 | TULP1 | c.1435T>C (p.Phe479Leu) c.1276T>C (p.Phe426Leu) c.1429T>C (p.Phe477Leu) | |
6 | g.35500041A>T | CA363778665 | TULP1 | c.1435T>A (p.Phe479Ile) c.1276T>A (p.Phe426Ile) c.1429T>A (p.Phe477Ile) | |
6 | g.35500042G>A | CA137278081 | TULP1 | c.1434C>T (p.Asn478=) c.1275C>T (p.Asn425=) c.1428C>T (p.Asn476=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500042G>C | CA363778667 | TULP1 | c.1434C>G (p.Asn478Lys) c.1275C>G (p.Asn425Lys) c.1428C>G (p.Asn476Lys) | |
6 | g.35500042G= | CA1620928999 | TULP1 | c.1434C= (p.Asn478=) c.1275C= (p.Asn425=) c.1428C= (p.Asn476=) | |
6 | g.35500042G>T | CA3772552 | TULP1 | c.1434C>A (p.Asn478Lys) c.1275C>A (p.Asn425Lys) c.1428C>A (p.Asn476Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500043T>A | CA363778678 | TULP1 | c.1433A>T (p.Asn478Ile) c.1274A>T (p.Asn425Ile) c.1427A>T (p.Asn476Ile) | |
6 | g.35500043T>C | CA3772553 | TULP1 | c.1433A>G (p.Asn478Ser) c.1274A>G (p.Asn425Ser) c.1427A>G (p.Asn476Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500043T>G | CA363778676 | TULP1 | c.1433A>C (p.Asn478Thr) c.1274A>C (p.Asn425Thr) c.1427A>C (p.Asn476Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500043T= | CA1620929001 | TULP1 | c.1433A= (p.Asn478=) c.1274A= (p.Asn425=) c.1427A= (p.Asn476=) | |
6 | g.35500044T>A | CA363778680 | TULP1 | c.1432A>T (p.Asn478Tyr) c.1273A>T (p.Asn425Tyr) c.1426A>T (p.Asn476Tyr) | |
6 | g.35500044T>C | CA363778681 | TULP1 | c.1432A>G (p.Asn478Asp) c.1273A>G (p.Asn425Asp) c.1426A>G (p.Asn476Asp) | |
6 | g.35500044T>G | CA363778683 | TULP1 | c.1432A>C (p.Asn478His) c.1273A>C (p.Asn425His) c.1426A>C (p.Asn476His) | gnomAD v4 |
6 | g.35500045G>A | CA137278093 | TULP1 | c.1431C>T (p.Leu477=) c.1272C>T (p.Leu424=) c.1425C>T (p.Leu475=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500045G>C | CA449942354 | TULP1 | c.1431C>G (p.Leu477=) c.1272C>G (p.Leu424=) c.1425C>G (p.Leu475=) | |
6 | g.35500045G= | CA1620929004 | TULP1 | c.1431C= (p.Leu477=) c.1272C= (p.Leu424=) c.1425C= (p.Leu475=) | |
6 | g.35500045G>T | CA449942355 | TULP1 | c.1431C>A (p.Leu477=) c.1272C>A (p.Leu424=) c.1425C>A (p.Leu475=) | |
6 | g.35500046A= | CA1620929007 | TULP1 | c.1430T= (p.Leu477=) c.1271T= (p.Leu424=) c.1424T= (p.Leu475=) | |
6 | g.35500046A>C | CA363778685 | TULP1 | c.1430T>G (p.Leu477Arg) c.1271T>G (p.Leu424Arg) c.1424T>G (p.Leu475Arg) | |
6 | g.35500046A>G | CA363778687 | TULP1 | c.1430T>C (p.Leu477Pro) c.1271T>C (p.Leu424Pro) c.1424T>C (p.Leu475Pro) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35500046A>T | CA363778688 | TULP1 | c.1430T>A (p.Leu477His) c.1271T>A (p.Leu424His) c.1424T>A (p.Leu475His) | |
6 | g.35500047G>A | CA363778689 | TULP1 | c.1429C>T (p.Leu477Phe) c.1270C>T (p.Leu424Phe) c.1423C>T (p.Leu475Phe) | gnomAD v4 |
6 | g.35500047G>C | CA363778691 | TULP1 | c.1429C>G (p.Leu477Val) c.1270C>G (p.Leu424Val) c.1423C>G (p.Leu475Val) | ClinVar dbSNP |
6 | g.35500047G= | CA1620929009 | TULP1 | c.1429C= (p.Leu477=) c.1270C= (p.Leu424=) c.1423C= (p.Leu475=) | |
6 | g.35500047G>T | CA363778693 | TULP1 | c.1429C>A (p.Leu477Ile) c.1270C>A (p.Leu424Ile) c.1423C>A (p.Leu475Ile) | |
6 | g.35500049del | CA2840855585 | TULP1 | c.1429del (p.Leu477SerfsTer?) c.1270del (p.Leu424SerfsTer?) c.1423del (p.Leu475SerfsTer?) | |
6 | g.35500048G>A | CA449942359 | TULP1 | c.1428C>T (p.Thr476=) c.1269C>T (p.Thr423=) c.1422C>T (p.Thr474=) | gnomAD v4 |
6 | g.35500048G>C | CA449942360 | TULP1 | c.1428C>G (p.Thr476=) c.1269C>G (p.Thr423=) c.1422C>G (p.Thr474=) | |
6 | g.35500048G>T | CA449942361 | TULP1 | c.1428C>A (p.Thr476=) c.1269C>A (p.Thr423=) c.1422C>A (p.Thr474=) | |
6 | g.35500049G>A | CA363778695 | TULP1 | c.1427C>T (p.Thr476Ile) c.1268C>T (p.Thr423Ile) c.1421C>T (p.Thr474Ile) | dbSNP |
6 | g.35500049G>C | CA363778697 | TULP1 | c.1427C>G (p.Thr476Ser) c.1268C>G (p.Thr423Ser) c.1421C>G (p.Thr474Ser) | |
6 | g.35500049G= | CA1620929011 | TULP1 | c.1427C= (p.Thr476=) c.1268C= (p.Thr423=) c.1421C= (p.Thr474=) | |
6 | g.35500049G>T | CA3772554 | TULP1 | c.1427C>A (p.Thr476Asn) c.1268C>A (p.Thr423Asn) c.1421C>A (p.Thr474Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500050T>A | CA363778700 | TULP1 | c.1426A>T (p.Thr476Ser) c.1267A>T (p.Thr423Ser) c.1420A>T (p.Thr474Ser) | |
6 | g.35500050T>C | CA363778704 | TULP1 | c.1426A>G (p.Thr476Ala) c.1267A>G (p.Thr423Ala) c.1420A>G (p.Thr474Ala) | |
6 | g.35500050T>G | CA363778702 | TULP1 | c.1426A>C (p.Thr476Pro) c.1267A>C (p.Thr423Pro) c.1420A>C (p.Thr474Pro) | |
6 | g.35500051G>A | CA449942365 | TULP1 | c.1425C>T (p.Tyr475=) c.1266C>T (p.Tyr422=) c.1419C>T (p.Tyr473=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500051G>C | CA363778705 | TULP1 | c.1425C>G (p.Tyr475Ter) c.1266C>G (p.Tyr422Ter) c.1419C>G (p.Tyr473Ter) | |
6 | g.35500051G= | CA1620929015 | TULP1 | c.1425C= (p.Tyr475=) c.1266C= (p.Tyr422=) c.1419C= (p.Tyr473=) | |
6 | g.35500051G>T | CA363778706 | TULP1 | c.1425C>A (p.Tyr475Ter) c.1266C>A (p.Tyr422Ter) c.1419C>A (p.Tyr473Ter) | |
6 | g.35500052T>A | CA363778709 | TULP1 | c.1424A>T (p.Tyr475Phe) c.1265A>T (p.Tyr422Phe) c.1418A>T (p.Tyr473Phe) | |
6 | g.35500052T>C | CA363778710 | TULP1 | c.1424A>G (p.Tyr475Cys) c.1265A>G (p.Tyr422Cys) c.1418A>G (p.Tyr473Cys) | gnomAD v4 |
6 | g.35500052T>G | CA363778712 | TULP1 | c.1424A>C (p.Tyr475Ser) c.1265A>C (p.Tyr422Ser) c.1418A>C (p.Tyr473Ser) | |
6 | g.35500053A>C | CA363778716 | TULP1 | c.1423T>G (p.Tyr475Asp) c.1264T>G (p.Tyr422Asp) c.1417T>G (p.Tyr473Asp) | |
6 | g.35500053A>G | CA363778715 | TULP1 | c.1423T>C (p.Tyr475His) c.1264T>C (p.Tyr422His) c.1417T>C (p.Tyr473His) | |
6 | g.35500053A>T | CA363778714 | TULP1 | c.1423T>A (p.Tyr475Asn) c.1264T>A (p.Tyr422Asn) c.1417T>A (p.Tyr473Asn) | |
6 | g.35500054G>A | CA449942371 | TULP1 | c.1422C>T (p.Ser474=) c.1263C>T (p.Ser421=) c.1416C>T (p.Ser472=) | |
6 | g.35500054G>C | CA449942369 | TULP1 | c.1422C>G (p.Ser474=) c.1263C>G (p.Ser421=) c.1416C>G (p.Ser472=) | |
6 | g.35500054G>T | CA449942370 | TULP1 | c.1422C>A (p.Ser474=) c.1263C>A (p.Ser421=) c.1416C>A (p.Ser472=) | |
6 | g.35500055G>A | CA363778718 | TULP1 | c.1421C>T (p.Ser474Phe) c.1262C>T (p.Ser421Phe) c.1415C>T (p.Ser472Phe) | |
6 | g.35500055G>C | CA363778720 | TULP1 | c.1421C>G (p.Ser474Cys) c.1262C>G (p.Ser421Cys) c.1415C>G (p.Ser472Cys) | |
6 | g.35500055G>T | CA363778722 | TULP1 | c.1421C>A (p.Ser474Tyr) c.1262C>A (p.Ser421Tyr) c.1415C>A (p.Ser472Tyr) | |
6 | g.35500056A>C | CA363778724 | TULP1 | c.1420T>G (p.Ser474Ala) c.1261T>G (p.Ser421Ala) c.1414T>G (p.Ser472Ala) | gnomAD v4 |
6 | g.35500056A>G | CA363778726 | TULP1 | c.1420T>C (p.Ser474Pro) c.1261T>C (p.Ser421Pro) c.1414T>C (p.Ser472Pro) | |
6 | g.35500056A>T | CA363778728 | TULP1 | c.1420T>A (p.Ser474Thr) c.1261T>A (p.Ser421Thr) c.1414T>A (p.Ser472Thr) | |
6 | g.35500057G>A | CA449942374 | TULP1 | c.1419C>T (p.Gly473=) c.1260C>T (p.Gly420=) c.1413C>T (p.Gly471=) | |
6 | g.35500057G>C | CA449942376 | TULP1 | c.1419C>G (p.Gly473=) c.1260C>G (p.Gly420=) c.1413C>G (p.Gly471=) | |
6 | g.35500057G>T | CA449942377 | TULP1 | c.1419C>A (p.Gly473=) c.1260C>A (p.Gly420=) c.1413C>A (p.Gly471=) | |
6 | g.35500058C>A | CA363778734 | TULP1 | c.1418G>T (p.Gly473Val) c.1259G>T (p.Gly420Val) c.1412G>T (p.Gly471Val) | |
6 | g.35500058C>G | CA363778730 | TULP1 | c.1418G>C (p.Gly473Ala) c.1259G>C (p.Gly420Ala) c.1412G>C (p.Gly471Ala) | COSMIC |
6 | g.35500058C>T | CA363778732 | TULP1 | c.1418G>A (p.Gly473Asp) c.1259G>A (p.Gly420Asp) c.1412G>A (p.Gly471Asp) | |
6 | g.35500059C>A | CA363778735 | TULP1 | c.1417G>T (p.Gly473Cys) c.1258G>T (p.Gly420Cys) c.1411G>T (p.Gly471Cys) | |
6 | g.35500059C>G | CA363778736 | TULP1 | c.1417G>C (p.Gly473Arg) c.1258G>C (p.Gly420Arg) c.1411G>C (p.Gly471Arg) | |
6 | g.35500059C>T | CA363778737 | TULP1 | c.1417G>A (p.Gly473Ser) c.1258G>A (p.Gly420Ser) c.1411G>A (p.Gly471Ser) | |
6 | g.35500060A>C | CA363778738 | TULP1 | c.1416T>G (p.Ser472Arg) c.1257T>G (p.Ser419Arg) c.1410T>G (p.Ser470Arg) | |
6 | g.35500060A>G | CA449942381 | TULP1 | c.1416T>C (p.Ser472=) c.1257T>C (p.Ser419=) c.1410T>C (p.Ser470=) | gnomAD v4 |
6 | g.35500060A>T | CA363778740 | TULP1 | c.1416T>A (p.Ser472Arg) c.1257T>A (p.Ser419Arg) c.1410T>A (p.Ser470Arg) | |
6 | g.35500061C>A | CA363778742 | TULP1 | c.1415G>T (p.Ser472Ile) c.1256G>T (p.Ser419Ile) c.1409G>T (p.Ser470Ile) | |
6 | g.35500061C= | CA1620929018 | TULP1 | c.1415G= (p.Ser472=) c.1256G= (p.Ser419=) c.1409G= (p.Ser470=) | |
6 | g.35500061C>G | CA363778743 | TULP1 | c.1415G>C (p.Ser472Thr) c.1256G>C (p.Ser419Thr) c.1409G>C (p.Ser470Thr) | |
6 | g.35500061C>T | CA363778745 | TULP1 | c.1415G>A (p.Ser472Asn) c.1256G>A (p.Ser419Asn) c.1409G>A (p.Ser470Asn) | dbSNP gnomAD v4 |
6 | g.35500062T>A | CA363778747 | TULP1 | c.1414A>T (p.Ser472Cys) c.1255A>T (p.Ser419Cys) c.1408A>T (p.Ser470Cys) | |
6 | g.35500062T>C | CA363778749 | TULP1 | c.1414A>G (p.Ser472Gly) c.1255A>G (p.Ser419Gly) c.1408A>G (p.Ser470Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500062T>G | CA363778750 | TULP1 | c.1414A>C (p.Ser472Arg) c.1255A>C (p.Ser419Arg) c.1408A>C (p.Ser470Arg) | |
6 | g.35500062T= | CA1620929020 | TULP1 | c.1414A= (p.Ser472=) c.1255A= (p.Ser419=) c.1408A= (p.Ser470=) | |
6 | g.35500063G>A | CA449942383 | TULP1 | c.1413C>T (p.Asp471=) c.1254C>T (p.Asp418=) c.1407C>T (p.Asp469=) | |
6 | g.35500063G>C | CA363778752 | TULP1 | c.1413C>G (p.Asp471Glu) c.1254C>G (p.Asp418Glu) c.1407C>G (p.Asp469Glu) | |
6 | g.35500063G>T | CA363778754 | TULP1 | c.1413C>A (p.Asp471Glu) c.1254C>A (p.Asp418Glu) c.1407C>A (p.Asp469Glu) | |
6 | g.35500063dup | CA2840855586 | TULP1 | c.1413dup (p.Ser472GlnfsTer26) c.1254dup (p.Ser419GlnfsTer26) c.1407dup (p.Ser470GlnfsTer26) | |
6 | g.35500064T>A | CA363778756 | TULP1 | c.1412A>T (p.Asp471Val) c.1253A>T (p.Asp418Val) c.1406A>T (p.Asp469Val) | |
6 | g.35500064T>C | CA363778759 | TULP1 | c.1412A>G (p.Asp471Gly) c.1253A>G (p.Asp418Gly) c.1406A>G (p.Asp469Gly) | |
6 | g.35500064T>G | CA363778757 | TULP1 | c.1412A>C (p.Asp471Ala) c.1253A>C (p.Asp418Ala) c.1406A>C (p.Asp469Ala) | |
6 | g.35500065C>A | CA363778761 | TULP1 | c.1411G>T (p.Asp471Tyr) c.1252G>T (p.Asp418Tyr) c.1405G>T (p.Asp469Tyr) | |
6 | g.35500065C= | CA1620929022 | TULP1 | c.1411G= (p.Asp471=) c.1252G= (p.Asp418=) c.1405G= (p.Asp469=) | |
6 | g.35500065C>G | CA363778762 | TULP1 | c.1411G>C (p.Asp471His) c.1252G>C (p.Asp418His) c.1405G>C (p.Asp469His) | |
6 | g.35500065C>T | CA363778764 | TULP1 | c.1411G>A (p.Asp471Asn) c.1252G>A (p.Asp418Asn) c.1405G>A (p.Asp469Asn) | dbSNP gnomAD v2 |
6 | g.35500066A>C | CA363778766 | TULP1 | c.1410T>G (p.Asp470Glu) c.1251T>G (p.Asp417Glu) c.1404T>G (p.Asp468Glu) | |
6 | g.35500066A>G | CA449942387 | TULP1 | c.1410T>C (p.Asp470=) c.1251T>C (p.Asp417=) c.1404T>C (p.Asp468=) | |
6 | g.35500066A>T | CA363778768 | TULP1 | c.1410T>A (p.Asp470Glu) c.1251T>A (p.Asp417Glu) c.1404T>A (p.Asp468Glu) | |
6 | g.35500067T>A | CA363778769 | TULP1 | c.1409A>T (p.Asp470Val) c.1250A>T (p.Asp417Val) c.1403A>T (p.Asp468Val) | |
6 | g.35500067T>C | CA363778770 | TULP1 | c.1409A>G (p.Asp470Gly) c.1250A>G (p.Asp417Gly) c.1403A>G (p.Asp468Gly) | |
6 | g.35500067T>G | CA363778771 | TULP1 | c.1409A>C (p.Asp470Ala) c.1250A>C (p.Asp417Ala) c.1403A>C (p.Asp468Ala) | |
6 | g.35500068C>A | CA363778772 | TULP1 | c.1408G>T (p.Asp470Tyr) c.1249G>T (p.Asp417Tyr) c.1402G>T (p.Asp468Tyr) | dbSNP |
6 | g.35500068C= | CA1620929026 | TULP1 | c.1408G= (p.Asp470=) c.1249G= (p.Asp417=) c.1402G= (p.Asp468=) | |
6 | g.35500068C>G | CA363778774 | TULP1 | c.1408G>C (p.Asp470His) c.1249G>C (p.Asp417His) c.1402G>C (p.Asp468His) | |
6 | g.35500068C>T | CA137278095 | TULP1 | c.1408G>A (p.Asp470Asn) c.1249G>A (p.Asp417Asn) c.1402G>A (p.Asp468Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.35500069G>A | CA3772555 | TULP1 | c.1407C>T (p.Asn469=) c.1248C>T (p.Asn416=) c.1401C>T (p.Asn467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500069G>C | CA363778778 | TULP1 | c.1407C>G (p.Asn469Lys) c.1248C>G (p.Asn416Lys) c.1401C>G (p.Asn467Lys) | |
6 | g.35500069G= | CA1620929032 | TULP1 | c.1407C= (p.Asn469=) c.1248C= (p.Asn416=) c.1401C= (p.Asn467=) | |
6 | g.35500069G>T | CA363778776 | TULP1 | c.1407C>A (p.Asn469Lys) c.1248C>A (p.Asn416Lys) c.1401C>A (p.Asn467Lys) | gnomAD v4 |
6 | g.35500070T>A | CA363778781 | TULP1 | c.1406A>T (p.Asn469Ile) c.1247A>T (p.Asn416Ile) n.582A>T c.1400A>T (p.Asn467Ile) | |
6 | g.35500070T>C | CA3772556 | TULP1 | c.1406A>G (p.Asn469Ser) c.1247A>G (p.Asn416Ser) n.582A>G c.1400A>G (p.Asn467Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500070T>G | CA363778783 | TULP1 | c.1406A>C (p.Asn469Thr) c.1247A>C (p.Asn416Thr) n.582A>C c.1400A>C (p.Asn467Thr) | |
6 | g.35500070T= | CA1620929035 | TULP1 | c.1406A= (p.Asn469=) c.1247A= (p.Asn416=) n.582A= c.1400A= (p.Asn467=) | |
6 | g.35500071T>A | CA363778784 | TULP1 | c.1405A>T (p.Asn469Tyr) c.1246A>T (p.Asn416Tyr) n.581A>T c.1399A>T (p.Asn467Tyr) | |
6 | g.35500071T>C | CA363778786 | TULP1 | c.1405A>G (p.Asn469Asp) c.1246A>G (p.Asn416Asp) n.581A>G c.1399A>G (p.Asn467Asp) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35500071T>G | CA363778788 | TULP1 | c.1405A>C (p.Asn469His) c.1246A>C (p.Asn416His) n.581A>C c.1399A>C (p.Asn467His) | ClinVar |
6 | g.35500071T= | CA1620929037 | TULP1 | c.1405A= (p.Asn469=) c.1246A= (p.Asn416=) n.581A= c.1399A= (p.Asn467=) | |
6 | g.35500072C>A | CA363778789 | TULP1 | c.1404G>T (p.Trp468Cys) c.1245G>T (p.Trp415Cys) n.580G>T c.1398G>T (p.Trp466Cys) | |
6 | g.35500072C>G | CA363778791 | TULP1 | c.1404G>C (p.Trp468Cys) c.1245G>C (p.Trp415Cys) n.580G>C c.1398G>C (p.Trp466Cys) | |
6 | g.35500072C>T | CA363778792 | TULP1 | c.1404G>A (p.Trp468Ter) c.1245G>A (p.Trp415Ter) n.580G>A c.1398G>A (p.Trp466Ter) | |
6 | g.35500073C>A | CA363778794 | TULP1 | c.1403G>T (p.Trp468Leu) c.1244G>T (p.Trp415Leu) n.579G>T c.1397G>T (p.Trp466Leu) | |
6 | g.35500073C= | CA1620929042 | TULP1 | c.1403G= (p.Trp468=) c.1244G= (p.Trp415=) n.579G= c.1397G= (p.Trp466=) | |
6 | g.35500073C>G | CA363778796 | TULP1 | c.1403G>C (p.Trp468Ser) c.1244G>C (p.Trp415Ser) n.579G>C c.1397G>C (p.Trp466Ser) | dbSNP gnomAD v4 |
6 | g.35500073C>T | CA363778797 | TULP1 | c.1403G>A (p.Trp468Ter) c.1244G>A (p.Trp415Ter) n.579G>A c.1397G>A (p.Trp466Ter) | |
6 | g.35500074A>C | CA363778799 | TULP1 | c.1402T>G (p.Trp468Gly) c.1243T>G (p.Trp415Gly) n.578T>G c.1396T>G (p.Trp466Gly) | |
6 | g.35500074A>G | CA363778802 | TULP1 | c.1402T>C (p.Trp468Arg) c.1243T>C (p.Trp415Arg) n.578T>C c.1396T>C (p.Trp466Arg) | |
6 | g.35500074A>T | CA363778801 | TULP1 | c.1402T>A (p.Trp468Arg) c.1243T>A (p.Trp415Arg) n.578T>A c.1396T>A (p.Trp466Arg) | |
6 | g.35500075G>A | CA449942393 | TULP1 | c.1401C>T (p.Val467=) c.1242C>T (p.Val414=) n.577C>T c.1395C>T (p.Val465=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500075G>C | CA449942395 | TULP1 | c.1401C>G (p.Val467=) c.1242C>G (p.Val414=) n.577C>G c.1395C>G (p.Val465=) | gnomAD v4 |
6 | g.35500075G= | CA1620929043 | TULP1 | c.1401C= (p.Val467=) c.1242C= (p.Val414=) n.577C= c.1395C= (p.Val465=) | |
6 | g.35500075G>T | CA449942396 | TULP1 | c.1401C>A (p.Val467=) c.1242C>A (p.Val414=) n.577C>A c.1395C>A (p.Val465=) | gnomAD v4 |
6 | g.35500076A>C | CA363778804 | TULP1 | c.1400T>G (p.Val467Gly) c.1241T>G (p.Val414Gly) n.576T>G c.1394T>G (p.Val465Gly) | |
6 | g.35500076A>G | CA363778808 | TULP1 | c.1400T>C (p.Val467Ala) c.1241T>C (p.Val414Ala) n.576T>C c.1394T>C (p.Val465Ala) | |
6 | g.35500076A>T | CA363778806 | TULP1 | c.1400T>A (p.Val467Asp) c.1241T>A (p.Val414Asp) n.576T>A c.1394T>A (p.Val465Asp) | |
6 | g.35500076dup | CA2840855587 | TULP1 | c.1400dup (p.Trp468LeufsTer4) c.1241dup (p.Trp415LeufsTer4) n.576dup c.1394dup (p.Trp466LeufsTer4) | |
6 | g.35500077C>A | CA363778810 | TULP1 | c.1399G>T (p.Val467Phe) c.1240G>T (p.Val414Phe) n.575G>T c.1393G>T (p.Val465Phe) | |
6 | g.35500077C= | CA1620929044 | TULP1 | c.1399G= (p.Val467=) c.1240G= (p.Val414=) n.575G= c.1393G= (p.Val465=) | |
6 | g.35500077C>G | CA363778812 | TULP1 | c.1399G>C (p.Val467Leu) c.1240G>C (p.Val414Leu) n.575G>C c.1393G>C (p.Val465Leu) | ClinVar dbSNP gnomAD v4 |
6 | g.35500077C>T | CA3772557 | TULP1 | c.1399G>A (p.Val467Ile) c.1240G>A (p.Val414Ile) n.575G>A c.1393G>A (p.Val465Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500078A>C | CA449942398 | TULP1 | c.1398T>G (p.Pro466=) c.1239T>G (p.Pro413=) n.574T>G c.1392T>G (p.Pro464=) | |
6 | g.35500078A>G | CA449942399 | TULP1 | c.1398T>C (p.Pro466=) c.1239T>C (p.Pro413=) n.574T>C c.1392T>C (p.Pro464=) | ClinVar gnomAD v4 |
6 | g.35500078A>T | CA449942400 | TULP1 | c.1398T>A (p.Pro466=) c.1239T>A (p.Pro413=) n.574T>A c.1392T>A (p.Pro464=) | |
6 | g.35500078dup | CA2678413968 | TULP1 | c.1398dup (p.Val467CysfsTer5) c.1239dup (p.Val414CysfsTer5) n.574dup c.1392dup (p.Val465CysfsTer5) | gnomAD v4 |
6 | g.35500079G>A | CA363778814 | TULP1 | c.1397C>T (p.Pro466Leu) c.1238C>T (p.Pro413Leu) n.573C>T c.1391C>T (p.Pro464Leu) | dbSNP gnomAD v4 |
6 | g.35500079G>C | CA363778816 | TULP1 | c.1397C>G (p.Pro466Arg) c.1238C>G (p.Pro413Arg) n.573C>G c.1391C>G (p.Pro464Arg) | |
6 | g.35500079G= | CA1620929046 | TULP1 | c.1397C= (p.Pro466=) c.1238C= (p.Pro413=) n.573C= c.1391C= (p.Pro464=) | |
6 | g.35500079G>T | CA363778818 | TULP1 | c.1397C>A (p.Pro466His) c.1238C>A (p.Pro413His) n.573C>A c.1391C>A (p.Pro464His) | |
6 | g.35500080G>A | CA137278154 | TULP1 | c.1396C>T (p.Pro466Ser) c.1237C>T (p.Pro413Ser) n.572C>T c.1390C>T (p.Pro464Ser) | ClinVar dbSNP |
6 | g.35500080G>C | CA363778819 | TULP1 | c.1396C>G (p.Pro466Ala) c.1237C>G (p.Pro413Ala) n.572C>G c.1390C>G (p.Pro464Ala) | |
6 | g.35500080G= | CA1620929050 | TULP1 | c.1396C= (p.Pro466=) c.1237C= (p.Pro413=) n.572C= c.1390C= (p.Pro464=) | |
6 | g.35500080G>T | CA363778822 | TULP1 | c.1396C>A (p.Pro466Thr) c.1237C>A (p.Pro413Thr) n.572C>A c.1390C>A (p.Pro464Thr) | |
6 | g.35500081T>A | CA449942402 | TULP1 | c.1395A>T (p.Pro465=) c.1236A>T (p.Pro412=) n.571A>T c.1389A>T (p.Pro463=) | |
6 | g.35500081T>C | CA449942403 | TULP1 | c.1395A>G (p.Pro465=) c.1236A>G (p.Pro412=) n.571A>G c.1389A>G (p.Pro463=) | |
6 | g.35500081T>G | CA449942404 | TULP1 | c.1395A>C (p.Pro465=) c.1236A>C (p.Pro412=) n.571A>C c.1389A>C (p.Pro463=) | |
6 | g.35500082G>A | CA363778824 | TULP1 | c.1394C>T (p.Pro465Leu) c.1235C>T (p.Pro412Leu) n.570C>T c.1388C>T (p.Pro463Leu) | |
6 | g.35500082G>C | CA137278161 | TULP1 | c.1394C>G (p.Pro465Arg) c.1235C>G (p.Pro412Arg) n.570C>G c.1388C>G (p.Pro463Arg) | dbSNP gnomAD v4 |
6 | g.35500082G= | CA1620929054 | TULP1 | c.1394C= (p.Pro465=) c.1235C= (p.Pro412=) n.570C= c.1388C= (p.Pro463=) | |
6 | g.35500082G>T | CA363778826 | TULP1 | c.1394C>A (p.Pro465Gln) c.1235C>A (p.Pro412Gln) n.570C>A c.1388C>A (p.Pro463Gln) | |
6 | g.35500083G>A | CA363778828 | TULP1 | c.1393C>T (p.Pro465Ser) c.1234C>T (p.Pro412Ser) n.569C>T c.1387C>T (p.Pro463Ser) | gnomAD v4 |
6 | g.35500083G>C | CA363778830 | TULP1 | c.1393C>G (p.Pro465Ala) c.1234C>G (p.Pro412Ala) n.569C>G c.1387C>G (p.Pro463Ala) | |
6 | g.35500083G= | CA1620929056 | TULP1 | c.1393C= (p.Pro465=) c.1234C= (p.Pro412=) n.569C= c.1387C= (p.Pro463=) | |
6 | g.35500083G>T | CA137278168 | TULP1 | c.1393C>A (p.Pro465Thr) c.1234C>A (p.Pro412Thr) n.569C>A c.1387C>A (p.Pro463Thr) | dbSNP gnomAD v4 |
6 | g.35500084C>A | CA363778834 | TULP1 | c.1392G>T (p.Lys464Asn) c.1233G>T (p.Lys411Asn) n.568G>T c.1386G>T (p.Lys462Asn) | |
6 | g.35500084C>G | CA363778832 | TULP1 | c.1392G>C (p.Lys464Asn) c.1233G>C (p.Lys411Asn) n.568G>C c.1386G>C (p.Lys462Asn) | |
6 | g.35500084C>T | CA449942409 | TULP1 | c.1392G>A (p.Lys464=) c.1233G>A (p.Lys411=) n.568G>A c.1386G>A (p.Lys462=) | |
6 | g.35500085T>A | CA363778836 | TULP1 | c.1391A>T (p.Lys464Met) c.1232A>T (p.Lys411Met) n.567A>T c.1385A>T (p.Lys462Met) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.35500085T>C | CA363778838 | TULP1 | c.1391A>G (p.Lys464Arg) c.1232A>G (p.Lys411Arg) n.567A>G c.1385A>G (p.Lys462Arg) | |
6 | g.35500085T>G | CA363778839 | TULP1 | c.1391A>C (p.Lys464Thr) c.1232A>C (p.Lys411Thr) n.567A>C c.1385A>C (p.Lys462Thr) | |
6 | g.35500085T= | CA1620929059 | TULP1 | c.1391A= (p.Lys464=) c.1232A= (p.Lys411=) n.567A= c.1385A= (p.Lys462=) | |
6 | g.35500089_35500091del | CA2678413969 | TULP1 | c.1389_1391del (p.Asn463del) c.1230_1232del (p.Asn410del) n.565_567del c.1383_1385del (p.Asn461del) | ClinVar gnomAD v4 |
6 | g.35500086T>A | CA363778841 | TULP1 | c.1390A>T (p.Lys464Ter) c.1231A>T (p.Lys411Ter) n.566A>T c.1384A>T (p.Lys462Ter) | |
6 | g.35500086T>C | CA363778842 | TULP1 | c.1390A>G (p.Lys464Glu) c.1231A>G (p.Lys411Glu) n.566A>G c.1384A>G (p.Lys462Glu) | |
6 | g.35500086T>G | CA137278178 | TULP1 | c.1390A>C (p.Lys464Gln) c.1231A>C (p.Lys411Gln) n.566A>C c.1384A>C (p.Lys462Gln) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500086T= | CA1620929061 | TULP1 | c.1390A= (p.Lys464=) c.1231A= (p.Lys411=) n.566A= c.1384A= (p.Lys462=) | |
6 | g.35500087G>A | CA449942412 | TULP1 | c.1389C>T (p.Asn463=) c.1230C>T (p.Asn410=) n.565C>T c.1383C>T (p.Asn461=) | |
6 | g.35500087G>C | CA137278183 | TULP1 | c.1389C>G (p.Asn463Lys) c.1230C>G (p.Asn410Lys) n.565C>G c.1383C>G (p.Asn461Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500087G= | CA1620929065 | TULP1 | c.1389C= (p.Asn463=) c.1230C= (p.Asn410=) n.565C= c.1383C= (p.Asn461=) | |
6 | g.35500087G>T | CA363778843 | TULP1 | c.1389C>A (p.Asn463Lys) c.1230C>A (p.Asn410Lys) n.565C>A c.1383C>A (p.Asn461Lys) | ClinVar dbSNP gnomAD v4 |
6 | g.35500087_35500088delinsGT | CA1620929067 | TULP1 | c.1388_1389delinsAC (p.Asn463=) c.1229_1230delinsAC (p.Asn410=) n.564_565delinsAC c.1382_1383delinsAC (p.Asn461=) | |
6 | g.35500088T>A | CA363778844 | TULP1 | c.1388A>T (p.Asn463Ile) c.1229A>T (p.Asn410Ile) n.564A>T c.1382A>T (p.Asn461Ile) | |
6 | g.35500088T>C | CA363778845 | TULP1 | c.1388A>G (p.Asn463Ser) c.1229A>G (p.Asn410Ser) n.564A>G c.1382A>G (p.Asn461Ser) | |
6 | g.35500088T>G | CA363778846 | TULP1 | c.1388A>C (p.Asn463Thr) c.1229A>C (p.Asn410Thr) n.564A>C c.1382A>C (p.Asn461Thr) | |
6 | g.35500089del | CA915944234 | TULP1 | c.1388del (p.Asn463ThrfsTer?) c.1229del (p.Asn410ThrfsTer?) n.564del c.1382del (p.Asn461ThrfsTer?) | ClinVar dbSNP |
6 | g.35500089T>A | CA363778850 | TULP1 | c.1387A>T (p.Asn463Tyr) c.1228A>T (p.Asn410Tyr) n.563A>T c.1381A>T (p.Asn461Tyr) | ClinVar dbSNP |
6 | g.35500089T>C | CA363778849 | TULP1 | c.1387A>G (p.Asn463Asp) c.1228A>G (p.Asn410Asp) n.563A>G c.1381A>G (p.Asn461Asp) | gnomAD v4 |
6 | g.35500089T>G | CA363778847 | TULP1 | c.1387A>C (p.Asn463His) c.1228A>C (p.Asn410His) n.563A>C c.1381A>C (p.Asn461His) | |
6 | g.35500089T= | CA1620929076 | TULP1 | c.1387A= (p.Asn463=) c.1228A= (p.Asn410=) n.563A= c.1381A= (p.Asn461=) | |
6 | g.35500090G>A | CA3772558 | TULP1 | c.1386C>T (p.His462=) c.1227C>T (p.His409=) n.562C>T c.1380C>T (p.His460=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500090G>C | CA363778852 | TULP1 | c.1386C>G (p.His462Gln) c.1227C>G (p.His409Gln) n.562C>G c.1380C>G (p.His460Gln) | |
6 | g.35500090G= | CA1620929079 | TULP1 | c.1386C= (p.His462=) c.1227C= (p.His409=) n.562C= c.1380C= (p.His460=) | |
6 | g.35500090G>T | CA363778854 | TULP1 | c.1386C>A (p.His462Gln) c.1227C>A (p.His409Gln) n.562C>A c.1380C>A (p.His460Gln) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500090dup | CA2739272950 | TULP1 | c.1386dup (p.Asn463GlnfsTer9) c.1227dup (p.Asn410GlnfsTer9) n.562dup c.1380dup (p.Asn461GlnfsTer9) | ClinVar |
6 | g.35500091T>A | CA363778856 | TULP1 | c.1385A>T (p.His462Leu) c.1226A>T (p.His409Leu) n.561A>T c.1379A>T (p.His460Leu) | |
6 | g.35500091T>C | CA3772559 | TULP1 | c.1385A>G (p.His462Arg) c.1226A>G (p.His409Arg) n.561A>G c.1379A>G (p.His460Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500091T>G | CA363778858 | TULP1 | c.1385A>C (p.His462Pro) c.1226A>C (p.His409Pro) n.561A>C c.1379A>C (p.His460Pro) | |
6 | g.35500091T= | CA1620929082 | TULP1 | c.1385A= (p.His462=) c.1226A= (p.His409=) n.561A= c.1379A= (p.His460=) | |
6 | g.35500092G>A | CA3772560 | TULP1 | c.1384C>T (p.His462Tyr) c.1225C>T (p.His409Tyr) n.560C>T c.1378C>T (p.His460Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500092G>C | CA363778861 | TULP1 | c.1384C>G (p.His462Asp) c.1225C>G (p.His409Asp) n.560C>G c.1378C>G (p.His460Asp) | |
6 | g.35500092G= | CA1620929086 | TULP1 | c.1384C= (p.His462=) c.1225C= (p.His409=) n.560C= c.1378C= (p.His460=) | |
6 | g.35500092G>T | CA363778862 | TULP1 | c.1384C>A (p.His462Asn) c.1225C>A (p.His409Asn) n.560C>A c.1378C>A (p.His460Asn) | |
6 | g.35500093C>A | CA449942418 | TULP1 | c.1383G>T (p.Leu461=) c.1224G>T (p.Leu408=) n.559G>T c.1377G>T (p.Leu459=) | |
6 | g.35500093C>G | CA449942420 | TULP1 | c.1383G>C (p.Leu461=) c.1224G>C (p.Leu408=) n.559G>C c.1377G>C (p.Leu459=) | |
6 | g.35500093C>T | CA449942419 | TULP1 | c.1383G>A (p.Leu461=) c.1224G>A (p.Leu408=) n.559G>A c.1377G>A (p.Leu459=) | |
6 | g.35500094A>C | CA363778864 | TULP1 | c.1382T>G (p.Leu461Arg) c.1223T>G (p.Leu408Arg) n.558T>G c.1376T>G (p.Leu459Arg) | gnomAD v4 |
6 | g.35500094A>G | CA363778865 | TULP1 | c.1382T>C (p.Leu461Pro) c.1223T>C (p.Leu408Pro) n.558T>C c.1376T>C (p.Leu459Pro) | gnomAD v4 |
6 | g.35500094A>T | CA363778866 | TULP1 | c.1382T>A (p.Leu461Gln) c.1223T>A (p.Leu408Gln) n.558T>A c.1376T>A (p.Leu459Gln) | |
6 | g.35500095G>A | CA449942421 | TULP1 | c.1381C>T (p.Leu461=) c.1222C>T (p.Leu408=) n.557C>T c.1375C>T (p.Leu459=) | |
6 | g.35500095G>C | CA3772561 | TULP1 | c.1381C>G (p.Leu461Val) c.1222C>G (p.Leu408Val) n.557C>G c.1375C>G (p.Leu459Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500095G= | CA1620929089 | TULP1 | c.1381C= (p.Leu461=) c.1222C= (p.Leu408=) n.557C= c.1375C= (p.Leu459=) | |
6 | g.35500095G>T | CA363778868 | TULP1 | c.1381C>A (p.Leu461Met) c.1222C>A (p.Leu408Met) n.557C>A c.1375C>A (p.Leu459Met) | COSMIC |
6 | g.35500096T>A | CA363778871 | TULP1 | c.1380A>T (p.Glu460Asp) c.1221A>T (p.Glu407Asp) n.556A>T c.1374A>T (p.Glu458Asp) | |
6 | g.35500096T>C | CA449942423 | TULP1 | c.1380A>G (p.Glu460=) c.1221A>G (p.Glu407=) n.556A>G c.1374A>G (p.Glu458=) | |
6 | g.35500096T>G | CA363778873 | TULP1 | c.1380A>C (p.Glu460Asp) c.1221A>C (p.Glu407Asp) n.556A>C c.1374A>C (p.Glu458Asp) | |
6 | g.35500097dup | CA2840855588 | TULP1 | c.1380dup (p.Leu461ThrfsTer11) c.1221dup (p.Leu408ThrfsTer11) n.556dup c.1374dup (p.Leu459ThrfsTer11) | |
6 | g.35500097T>A | CA363778874 | TULP1 | c.1379A>T (p.Glu460Val) c.1220A>T (p.Glu407Val) n.555A>T c.1373A>T (p.Glu458Val) | |
6 | g.35500097T>C | CA363778875 | TULP1 | c.1379A>G (p.Glu460Gly) c.1220A>G (p.Glu407Gly) n.555A>G c.1373A>G (p.Glu458Gly) | |
6 | g.35500097T>G | CA363778876 | TULP1 | c.1379A>C (p.Glu460Ala) c.1220A>C (p.Glu407Ala) n.555A>C c.1373A>C (p.Glu458Ala) | |
6 | g.35500098del | CA645563439 | TULP1 | c.1378del (p.Glu460AsnfsTer?) c.1219del (p.Glu407AsnfsTer?) n.554del c.1372del (p.Glu458AsnfsTer?) | COSMIC |
6 | g.35500098C>A | CA363778878 | TULP1 | c.1378G>T (p.Glu460Ter) c.1219G>T (p.Glu407Ter) n.554G>T c.1372G>T (p.Glu458Ter) | ClinVar dbSNP |
6 | g.35500098C= | CA1620929095 | TULP1 | c.1378G= (p.Glu460=) c.1219G= (p.Glu407=) n.554G= c.1372G= (p.Glu458=) | |
6 | g.35500098C>G | CA3772562 | TULP1 | c.1378G>C (p.Glu460Gln) c.1219G>C (p.Glu407Gln) n.554G>C c.1372G>C (p.Glu458Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500098C>T | CA363778880 | TULP1 | c.1378G>A (p.Glu460Lys) c.1219G>A (p.Glu407Lys) n.554G>A c.1372G>A (p.Glu458Lys) | ClinVar |
6 | g.35500099T>A | CA449942425 | TULP1 | c.1377A>T (p.Ile459=) c.1218A>T (p.Ile406=) n.553A>T c.1371A>T (p.Ile457=) | gnomAD v4 |
6 | g.35500099T>C | CA363778882 | TULP1 | c.1377A>G (p.Ile459Met) c.1218A>G (p.Ile406Met) n.553A>G c.1371A>G (p.Ile457Met) | gnomAD v4 |
6 | g.35500099T>G | CA449942426 | TULP1 | c.1377A>C (p.Ile459=) c.1218A>C (p.Ile406=) n.553A>C c.1371A>C (p.Ile457=) | |
6 | g.35500100_35500101del | CA2695206260 | TULP1 | c.1376_1377del (p.Ile459ArgfsTer12) c.1217_1218del (p.Ile406ArgfsTer12) n.552_553del c.1370_1371del (p.Ile457ArgfsTer12) | |
6 | g.35500100A= | CA1620929101 | TULP1 | c.1376T= (p.Ile459=) c.1217T= (p.Ile406=) n.552T= c.1370T= (p.Ile457=) | |
6 | g.35500100A>C | CA363778883 | TULP1 | c.1376T>G (p.Ile459Arg) c.1217T>G (p.Ile406Arg) n.552T>G c.1370T>G (p.Ile457Arg) | |
6 | g.35500100A>G | CA240311 | TULP1 | c.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 |
6 | g.35500100A>T | CA254155 | TULP1 | c.1376T>A (p.Ile459Lys) c.1217T>A (p.Ile406Lys) n.552T>A c.1370T>A (p.Ile457Lys) | ClinVar dbSNP gnomAD v4 |
6 | g.35500101T>A | CA363778888 | TULP1 | c.1375A>T (p.Ile459Leu) c.1216A>T (p.Ile406Leu) n.551A>T c.1369A>T (p.Ile457Leu) | |
6 | g.35500101T>C | CA363778887 | TULP1 | c.1375A>G (p.Ile459Val) c.1216A>G (p.Ile406Val) n.551A>G c.1369A>G (p.Ile457Val) | |
6 | g.35500101T>G | CA227703 | TULP1 | c.1375A>C (p.Ile459Leu) c.1216A>C (p.Ile406Leu) n.551A>C c.1369A>C (p.Ile457Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.35500101T= | CA1620929107 | TULP1 | c.1375A= (p.Ile459=) c.1216A= (p.Ile406=) n.551A= c.1369A= (p.Ile457=) | |
6 | g.35500102G>A | CA137278226 | TULP1 | c.1374C>T (p.Leu458=) c.1215C>T (p.Leu405=) n.550C>T c.1368C>T (p.Leu456=) | dbSNP gnomAD v4 |
6 | g.35500102G>C | CA449942430 | TULP1 | c.1374C>G (p.Leu458=) c.1215C>G (p.Leu405=) n.550C>G c.1368C>G (p.Leu456=) | |
6 | g.35500102G= | CA1620929111 | TULP1 | c.1374C= (p.Leu458=) c.1215C= (p.Leu405=) n.550C= c.1368C= (p.Leu456=) | |
6 | g.35500102G>T | CA449942431 | TULP1 | c.1374C>A (p.Leu458=) c.1215C>A (p.Leu405=) n.550C>A c.1368C>A (p.Leu456=) | |
6 | g.35500103A>C | CA363778889 | TULP1 | c.1373T>G (p.Leu458Arg) c.1214T>G (p.Leu405Arg) n.549T>G c.1367T>G (p.Leu456Arg) | |
6 | g.35500103A>G | CA363778890 | TULP1 | c.1373T>C (p.Leu458Pro) c.1214T>C (p.Leu405Pro) n.549T>C c.1367T>C (p.Leu456Pro) | |
6 | g.35500103A>T | CA363778891 | TULP1 | c.1373T>A (p.Leu458His) c.1214T>A (p.Leu405His) n.549T>A c.1367T>A (p.Leu456His) |