Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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.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.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) | |
6 | g.35500104G>A | CA363778892 | TULP1 | c.1372C>T (p.Leu458Phe) c.1213C>T (p.Leu405Phe) n.548C>T c.1366C>T (p.Leu456Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500104G>C | CA363778893 | TULP1 | c.1372C>G (p.Leu458Val) c.1213C>G (p.Leu405Val) n.548C>G c.1366C>G (p.Leu456Val) | |
6 | g.35500104G= | CA1620929115 | TULP1 | c.1372C= (p.Leu458=) c.1213C= (p.Leu405=) n.548C= c.1366C= (p.Leu456=) | |
6 | g.35500104G>T | CA363778894 | TULP1 | c.1372C>A (p.Leu458Ile) c.1213C>A (p.Leu405Ile) n.548C>A c.1366C>A (p.Leu456Ile) | |
6 | g.35500105G>A | CA449942432 | TULP1 | c.1371C>T (p.Ser457=) c.1212C>T (p.Ser404=) n.547C>T c.1365C>T (p.Ser455=) | |
6 | g.35500105G>C | CA363778895 | TULP1 | c.1371C>G (p.Ser457Arg) c.1212C>G (p.Ser404Arg) n.547C>G c.1365C>G (p.Ser455Arg) | |
6 | g.35500105G>T | CA363778896 | TULP1 | c.1371C>A (p.Ser457Arg) c.1212C>A (p.Ser404Arg) n.547C>A c.1365C>A (p.Ser455Arg) | |
6 | g.35500106C>A | CA363778897 | TULP1 | c.1370G>T (p.Ser457Ile) c.1211G>T (p.Ser404Ile) n.546G>T c.1364G>T (p.Ser455Ile) | gnomAD v4 |
6 | g.35500106C= | CA1620929119 | TULP1 | c.1370G= (p.Ser457=) c.1211G= (p.Ser404=) n.546G= c.1364G= (p.Ser455=) | |
6 | g.35500106C>G | CA363778898 | TULP1 | c.1370G>C (p.Ser457Thr) c.1211G>C (p.Ser404Thr) n.546G>C c.1364G>C (p.Ser455Thr) | |
6 | g.35500106C>T | CA363778899 | TULP1 | c.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 |
6 | g.35500108_35500118del | CA2678413971 | TULP1 | c.1360_1370del (p.Thr454ProfsTer14) c.1201_1211del (p.Thr401ProfsTer14) n.536_546del c.1354_1364del (p.Thr452ProfsTer14) | gnomAD v4 |
6 | g.35500107T>A | CA363778900 | TULP1 | c.1369A>T (p.Ser457Cys) c.1210A>T (p.Ser404Cys) n.545A>T c.1363A>T (p.Ser455Cys) | |
6 | g.35500107T>C | CA363778901 | TULP1 | c.1369A>G (p.Ser457Gly) c.1210A>G (p.Ser404Gly) n.545A>G c.1363A>G (p.Ser455Gly) | |
6 | g.35500107T>G | CA363778902 | TULP1 | c.1369A>C (p.Ser457Arg) c.1210A>C (p.Ser404Arg) n.545A>C c.1363A>C (p.Ser455Arg) | |
6 | g.35500108C>A | CA363778903 | TULP1 | c.1368G>T (p.Glu456Asp) c.1209G>T (p.Glu403Asp) n.544G>T c.1362G>T (p.Glu454Asp) | |
6 | g.35500108C= | CA1620929125 | TULP1 | c.1368G= (p.Glu456=) c.1209G= (p.Glu403=) n.544G= c.1362G= (p.Glu454=) | |
6 | g.35500108C>G | CA363778904 | TULP1 | c.1368G>C (p.Glu456Asp) c.1209G>C (p.Glu403Asp) n.544G>C c.1362G>C (p.Glu454Asp) | |
6 | g.35500108C>T | CA449942435 | TULP1 | c.1368G>A (p.Glu456=) c.1209G>A (p.Glu403=) n.544G>A c.1362G>A (p.Glu454=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500109T>A | CA363778905 | TULP1 | c.1367A>T (p.Glu456Val) c.1208A>T (p.Glu403Val) n.543A>T c.1361A>T (p.Glu454Val) | |
6 | g.35500109T>C | CA363778906 | TULP1 | c.1367A>G (p.Glu456Gly) c.1208A>G (p.Glu403Gly) n.543A>G c.1361A>G (p.Glu454Gly) | |
6 | g.35500109T>G | CA363778907 | TULP1 | c.1367A>C (p.Glu456Ala) c.1208A>C (p.Glu403Ala) n.543A>C c.1361A>C (p.Glu454Ala) | |
6 | g.35500110C>A | CA363778908 | TULP1 | c.1366G>T (p.Glu456Ter) c.1207G>T (p.Glu403Ter) n.542G>T c.1360G>T (p.Glu454Ter) | |
6 | g.35500110C>G | CA363778909 | TULP1 | c.1366G>C (p.Glu456Gln) c.1207G>C (p.Glu403Gln) n.542G>C c.1360G>C (p.Glu454Gln) | gnomAD v4 |
6 | g.35500110C>T | CA363778910 | TULP1 | c.1366G>A (p.Glu456Lys) c.1207G>A (p.Glu403Lys) n.542G>A c.1360G>A (p.Glu454Lys) | gnomAD v4 |
6 | g.35500111C>A | CA449942439 | TULP1 | c.1365G>T (p.Leu455=) c.1206G>T (p.Leu402=) n.541G>T c.1359G>T (p.Leu453=) | |
6 | g.35500111C= | CA1620929127 | TULP1 | c.1365G= (p.Leu455=) c.1206G= (p.Leu402=) n.541G= c.1359G= (p.Leu453=) | |
6 | g.35500111C>G | CA449942440 | TULP1 | c.1365G>C (p.Leu455=) c.1206G>C (p.Leu402=) n.541G>C c.1359G>C (p.Leu453=) | |
6 | g.35500111C>T | CA3772563 | TULP1 | c.1365G>A (p.Leu455=) c.1206G>A (p.Leu402=) n.541G>A c.1359G>A (p.Leu453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500112A= | CA1620929129 | TULP1 | c.1364T= (p.Leu455=) c.1205T= (p.Leu402=) n.540T= c.1358T= (p.Leu453=) | |
6 | g.35500112A>C | CA363778911 | TULP1 | c.1364T>G (p.Leu455Arg) c.1205T>G (p.Leu402Arg) n.540T>G c.1358T>G (p.Leu453Arg) | |
6 | g.35500112A>G | CA363778912 | TULP1 | c.1364T>C (p.Leu455Pro) c.1205T>C (p.Leu402Pro) n.540T>C c.1358T>C (p.Leu453Pro) | dbSNP |
6 | g.35500112A>T | CA363778913 | TULP1 | c.1364T>A (p.Leu455Gln) c.1205T>A (p.Leu402Gln) n.540T>A c.1358T>A (p.Leu453Gln) | |
6 | g.35500113G>A | CA449942444 | TULP1 | c.1363C>T (p.Leu455=) c.1204C>T (p.Leu402=) n.539C>T c.1357C>T (p.Leu453=) | |
6 | g.35500113G>C | CA363778914 | TULP1 | c.1363C>G (p.Leu455Val) c.1204C>G (p.Leu402Val) n.539C>G c.1357C>G (p.Leu453Val) | |
6 | g.35500113G>T | CA363778915 | TULP1 | c.1363C>A (p.Leu455Met) c.1204C>A (p.Leu402Met) n.539C>A c.1357C>A (p.Leu453Met) | |
6 | g.35500114C>A | CA449942447 | TULP1 | c.1362G>T (p.Thr454=) c.1203G>T (p.Thr401=) n.538G>T c.1356G>T (p.Thr452=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500114C= | CA1620929133 | TULP1 | c.1362G= (p.Thr454=) c.1203G= (p.Thr401=) n.538G= c.1356G= (p.Thr452=) | |
6 | g.35500114C>G | CA449942446 | TULP1 | c.1362G>C (p.Thr454=) c.1203G>C (p.Thr401=) n.538G>C c.1356G>C (p.Thr452=) | |
6 | g.35500114C>T | CA227701 | TULP1 | c.1362G>A (p.Thr454=) c.1203G>A (p.Thr401=) n.538G>A c.1356G>A (p.Thr452=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500114_35500116delinsCGT | CA1620929135 | TULP1 | c.1360_1362delinsACG (p.Thr454=) c.1201_1203delinsACG (p.Thr401=) n.536_538delinsACG c.1354_1356delinsACG (p.Thr452=) | |
6 | g.35500115G>A | CA3772564 | TULP1 | c.1361C>T (p.Thr454Met) c.1202C>T (p.Thr401Met) n.537C>T c.1355C>T (p.Thr452Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500115G>C | CA363778916 | TULP1 | c.1361C>G (p.Thr454Arg) c.1202C>G (p.Thr401Arg) n.537C>G c.1355C>G (p.Thr452Arg) | |
6 | g.35500115G= | CA1620929140 | TULP1 | c.1361C= (p.Thr454=) c.1202C= (p.Thr401=) n.537C= c.1355C= (p.Thr452=) | |
6 | g.35500115G>T | CA137278235 | TULP1 | c.1361C>A (p.Thr454Lys) c.1202C>A (p.Thr401Lys) n.537C>A c.1355C>A (p.Thr452Lys) | dbSNP |
6 | g.35500115_35500116del | CA1620929138 | TULP1 | c.1360_1361del (p.Thr454AlafsTer17) c.1201_1202del (p.Thr401AlafsTer17) n.536_537del c.1354_1355del (p.Thr452AlafsTer17) | ClinVar dbSNP |
6 | g.35500116T>A | CA363778917 | TULP1 | c.1360A>T (p.Thr454Ser) c.1201A>T (p.Thr401Ser) n.536A>T c.1354A>T (p.Thr452Ser) | |
6 | g.35500116T>C | CA363778918 | TULP1 | c.1360A>G (p.Thr454Ala) c.1201A>G (p.Thr401Ala) n.536A>G c.1354A>G (p.Thr452Ala) | |
6 | g.35500116T>G | CA363778919 | TULP1 | c.1360A>C (p.Thr454Pro) c.1201A>C (p.Thr401Pro) n.536A>C c.1354A>C (p.Thr452Pro) | |
6 | g.35500117C>A | CA3772565 | TULP1 | c.1359G>T (p.Lys453Asn) c.1200G>T (p.Lys400Asn) n.535G>T c.1353G>T (p.Lys451Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500117C= | CA1620929143 | TULP1 | c.1359G= (p.Lys453=) c.1200G= (p.Lys400=) n.535G= c.1353G= (p.Lys451=) | |
6 | g.35500117C>G | CA363778920 | TULP1 | c.1359G>C (p.Lys453Asn) c.1200G>C (p.Lys400Asn) n.535G>C c.1353G>C (p.Lys451Asn) | |
6 | g.35500117C>T | CA449942451 | TULP1 | c.1359G>A (p.Lys453=) c.1200G>A (p.Lys400=) n.535G>A c.1353G>A (p.Lys451=) | |
6 | g.35500118T>A | CA363778921 | TULP1 | c.1358A>T (p.Lys453Met) c.1199A>T (p.Lys400Met) n.534A>T c.1352A>T (p.Lys451Met) | |
6 | g.35500118T>C | CA3772566 | TULP1 | c.1358A>G (p.Lys453Arg) c.1199A>G (p.Lys400Arg) n.534A>G c.1352A>G (p.Lys451Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500118T>G | CA363778922 | TULP1 | c.1358A>C (p.Lys453Thr) c.1199A>C (p.Lys400Thr) n.534A>C c.1352A>C (p.Lys451Thr) | |
6 | g.35500118T= | CA1620929148 | TULP1 | c.1358A= (p.Lys453=) c.1199A= (p.Lys400=) n.534A= c.1352A= (p.Lys451=) | |
6 | g.35500119T>A | CA363778923 | TULP1 | c.1357A>T (p.Lys453Ter) c.1198A>T (p.Lys400Ter) n.533A>T c.1351A>T (p.Lys451Ter) | |
6 | g.35500119T>C | CA363778924 | TULP1 | c.1357A>G (p.Lys453Glu) c.1198A>G (p.Lys400Glu) n.533A>G c.1351A>G (p.Lys451Glu) | |
6 | g.35500119T>G | CA363778925 | TULP1 | c.1357A>C (p.Lys453Gln) c.1198A>C (p.Lys400Gln) n.533A>C c.1351A>C (p.Lys451Gln) | |
6 | g.35500120G>A | CA449942455 | TULP1 | c.1356C>T (p.Asn452=) c.1197C>T (p.Asn399=) n.532C>T c.1350C>T (p.Asn450=) | ClinVar dbSNP |
6 | g.35500120G>C | CA363778926 | TULP1 | c.1356C>G (p.Asn452Lys) c.1197C>G (p.Asn399Lys) n.532C>G c.1350C>G (p.Asn450Lys) | |
6 | g.35500120G= | CA1620929151 | TULP1 | c.1356C= (p.Asn452=) c.1197C= (p.Asn399=) n.532C= c.1350C= (p.Asn450=) | |
6 | g.35500120G>T | CA363778927 | TULP1 | c.1356C>A (p.Asn452Lys) c.1197C>A (p.Asn399Lys) n.532C>A c.1350C>A (p.Asn450Lys) | dbSNP |
6 | g.35500121T>A | CA363778928 | TULP1 | c.1355A>T (p.Asn452Ile) c.1196A>T (p.Asn399Ile) n.531A>T c.1349A>T (p.Asn450Ile) | |
6 | g.35500121T>C | CA363778930 | TULP1 | c.1355A>G (p.Asn452Ser) c.1196A>G (p.Asn399Ser) n.531A>G c.1349A>G (p.Asn450Ser) | dbSNP gnomAD v4 |
6 | g.35500121T>G | CA363778929 | TULP1 | c.1355A>C (p.Asn452Thr) c.1196A>C (p.Asn399Thr) n.531A>C c.1349A>C (p.Asn450Thr) | |
6 | g.35500121T= | CA1620929153 | TULP1 | c.1355A= (p.Asn452=) c.1196A= (p.Asn399=) n.531A= c.1349A= (p.Asn450=) | |
6 | g.35500122T>A | CA363778931 | TULP1 | c.1354A>T (p.Asn452Tyr) c.1195A>T (p.Asn399Tyr) n.530A>T c.1348A>T (p.Asn450Tyr) | |
6 | g.35500122T>C | CA363778932 | TULP1 | c.1354A>G (p.Asn452Asp) c.1195A>G (p.Asn399Asp) n.530A>G c.1348A>G (p.Asn450Asp) | |
6 | g.35500122T>G | CA363778933 | TULP1 | c.1354A>C (p.Asn452His) c.1195A>C (p.Asn399His) n.530A>C c.1348A>C (p.Asn450His) | |
6 | g.35500123C>A | CA363778934 | TULP1 | c.1353G>T (p.Gln451His) c.1194G>T (p.Gln398His) n.529G>T c.1347G>T (p.Gln449His) | |
6 | g.35500123C>G | CA363778935 | TULP1 | c.1353G>C (p.Gln451His) c.1194G>C (p.Gln398His) n.529G>C c.1347G>C (p.Gln449His) | |
6 | g.35500123C>T | CA449942457 | TULP1 | c.1353G>A (p.Gln451=) c.1194G>A (p.Gln398=) n.529G>A c.1347G>A (p.Gln449=) | |
6 | g.35500124T>A | CA363778936 | TULP1 | c.1352A>T (p.Gln451Leu) c.1193A>T (p.Gln398Leu) n.528A>T c.1346A>T (p.Gln449Leu) | |
6 | g.35500124T>C | CA363778937 | TULP1 | c.1352A>G (p.Gln451Arg) c.1193A>G (p.Gln398Arg) n.528A>G c.1346A>G (p.Gln449Arg) | |
6 | g.35500124T>G | CA363778938 | TULP1 | c.1352A>C (p.Gln451Pro) c.1193A>C (p.Gln398Pro) n.528A>C c.1346A>C (p.Gln449Pro) | |
6 | g.35500125G>A | CA363778939 | TULP1 | c.1351C>T (p.Gln451Ter) c.1192C>T (p.Gln398Ter) n.527C>T c.1345C>T (p.Gln449Ter) | ClinVar dbSNP |
6 | g.35500125G>C | CA363778940 | TULP1 | c.1351C>G (p.Gln451Glu) c.1192C>G (p.Gln398Glu) n.527C>G c.1345C>G (p.Gln449Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500125G= | CA1620929157 | TULP1 | c.1351C= (p.Gln451=) c.1192C= (p.Gln398=) n.527C= c.1345C= (p.Gln449=) | |
6 | g.35500125G>T | CA363778941 | TULP1 | c.1351C>A (p.Gln451Lys) c.1192C>A (p.Gln398Lys) n.527C>A c.1345C>A (p.Gln449Lys) | |
6 | g.35500126C>A | CA363778943 | TULP1 | c.1350G>T (p.Trp450Cys) c.1191G>T (p.Trp397Cys) n.526G>T c.1344G>T (p.Trp448Cys) | |
6 | g.35500126C>G | CA363778944 | TULP1 | c.1350G>C (p.Trp450Cys) c.1191G>C (p.Trp397Cys) n.526G>C c.1344G>C (p.Trp448Cys) | |
6 | g.35500126C>T | CA363778942 | TULP1 | c.1350G>A (p.Trp450Ter) c.1191G>A (p.Trp397Ter) n.526G>A c.1344G>A (p.Trp448Ter) | |
6 | g.35500127C>A | CA363778946 | TULP1 | c.1349G>T (p.Trp450Leu) c.1190G>T (p.Trp397Leu) n.525G>T c.1343G>T (p.Trp448Leu) | |
6 | g.35500127C= | CA1620929161 | TULP1 | c.1349G= (p.Trp450=) c.1190G= (p.Trp397=) n.525G= c.1343G= (p.Trp448=) | |
6 | g.35500127C>G | CA363778945 | TULP1 | c.1349G>C (p.Trp450Ser) c.1190G>C (p.Trp397Ser) n.525G>C c.1343G>C (p.Trp448Ser) | |
6 | g.35500127C>T | CA363778947 | TULP1 | c.1349G>A (p.Trp450Ter) c.1190G>A (p.Trp397Ter) n.525G>A c.1343G>A (p.Trp448Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.35500128A>C | CA363778948 | TULP1 | c.1348T>G (p.Trp450Gly) c.1189T>G (p.Trp397Gly) n.524T>G c.1342T>G (p.Trp448Gly) | |
6 | g.35500128A>G | CA363778950 | TULP1 | c.1348T>C (p.Trp450Arg) c.1189T>C (p.Trp397Arg) n.524T>C c.1342T>C (p.Trp448Arg) | |
6 | g.35500128A>T | CA363778949 | TULP1 | c.1348T>A (p.Trp450Arg) c.1189T>A (p.Trp397Arg) n.524T>A c.1342T>A (p.Trp448Arg) | |
6 | g.35500129G>A | CA449942463 | TULP1 | c.1347C>T (p.Arg449=) c.1188C>T (p.Arg396=) n.523C>T c.1341C>T (p.Arg447=) | COSMIC |
6 | g.35500129G>C | CA449942464 | TULP1 | c.1347C>G (p.Arg449=) c.1188C>G (p.Arg396=) n.523C>G c.1341C>G (p.Arg447=) | |
6 | g.35500129G>T | CA449942466 | TULP1 | c.1347C>A (p.Arg449=) c.1188C>A (p.Arg396=) n.523C>A c.1341C>A (p.Arg447=) | |
6 | g.35500130C>A | CA363778951 | TULP1 | c.1346G>T (p.Arg449Leu) c.1187G>T (p.Arg396Leu) n.522G>T c.1340G>T (p.Arg447Leu) | |
6 | g.35500130C= | CA1620929165 | TULP1 | c.1346G= (p.Arg449=) c.1187G= (p.Arg396=) n.522G= c.1340G= (p.Arg447=) | |
6 | g.35500130C>G | CA363778953 | TULP1 | c.1346G>C (p.Arg449Pro) c.1187G>C (p.Arg396Pro) n.522G>C c.1340G>C (p.Arg447Pro) | |
6 | g.35500130C>T | CA363778952 | TULP1 | c.1346G>A (p.Arg449His) c.1187G>A (p.Arg396His) n.522G>A c.1340G>A (p.Arg447His) | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.35500131G>A | CA363778954 | TULP1 | c.1345C>T (p.Arg449Cys) c.1186C>T (p.Arg396Cys) n.521C>T c.1339C>T (p.Arg447Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500131G>C | CA363778955 | TULP1 | c.1345C>G (p.Arg449Gly) c.1186C>G (p.Arg396Gly) n.521C>G c.1339C>G (p.Arg447Gly) | gnomAD v4 |
6 | g.35500131G= | CA1620929172 | TULP1 | c.1345C= (p.Arg449=) c.1186C= (p.Arg396=) n.521C= c.1339C= (p.Arg447=) | |
6 | g.35500131G>T | CA363778956 | TULP1 | c.1345C>A (p.Arg449Ser) c.1186C>A (p.Arg396Ser) n.521C>A c.1339C>A (p.Arg447Ser) | dbSNP COSMIC |
6 | g.35500132C>A | CA449942470 | TULP1 | c.1344G>T (p.Val448=) c.1185G>T (p.Val395=) n.520G>T c.1338G>T (p.Val446=) | |
6 | g.35500132C= | CA1620929178 | TULP1 | c.1344G= (p.Val448=) c.1185G= (p.Val395=) n.520G= c.1338G= (p.Val446=) | |
6 | g.35500132C>G | CA449942471 | TULP1 | c.1344G>C (p.Val448=) c.1185G>C (p.Val395=) n.520G>C c.1338G>C (p.Val446=) | |
6 | g.35500132C>T | CA3772567 | TULP1 | c.1344G>A (p.Val448=) c.1185G>A (p.Val395=) n.520G>A c.1338G>A (p.Val446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500135_35500148del | CA2770629820 | TULP1 | c.1331_1344del (p.Asp444AlafsTer23) c.1172_1185del (p.Asp391AlafsTer23) n.507_520del c.1325_1338del (p.Asp442AlafsTer23) | |
6 | g.35500133A>C | CA363778957 | TULP1 | c.1343T>G (p.Val448Gly) c.1184T>G (p.Val395Gly) n.519T>G c.1337T>G (p.Val446Gly) | |
6 | g.35500133A>G | CA363778958 | TULP1 | c.1343T>C (p.Val448Ala) c.1184T>C (p.Val395Ala) n.519T>C c.1337T>C (p.Val446Ala) | |
6 | g.35500133A>T | CA363778959 | TULP1 | c.1343T>A (p.Val448Glu) c.1184T>A (p.Val395Glu) n.519T>A c.1337T>A (p.Val446Glu) | |
6 | g.35500134C>A | CA363778960 | TULP1 | c.1342G>T (p.Val448Leu) c.1183G>T (p.Val395Leu) n.518G>T c.1336G>T (p.Val446Leu) | |
6 | g.35500134C>G | CA363778961 | TULP1 | c.1342G>C (p.Val448Leu) c.1183G>C (p.Val395Leu) n.518G>C c.1336G>C (p.Val446Leu) | |
6 | g.35500134C>T | CA363778962 | TULP1 | c.1342G>A (p.Val448Met) c.1183G>A (p.Val395Met) n.518G>A c.1336G>A (p.Val446Met) | ClinVar gnomAD v4 |
6 | g.35500135C>A | CA449942472 | TULP1 | c.1341G>T (p.Leu447=) c.1182G>T (p.Leu394=) n.517G>T c.1335G>T (p.Leu445=) | |
6 | g.35500135C= | CA1620929185 | TULP1 | c.1341G= (p.Leu447=) c.1182G= (p.Leu394=) n.517G= c.1335G= (p.Leu445=) | |
6 | g.35500135C>G | CA449942474 | TULP1 | c.1341G>C (p.Leu447=) c.1182G>C (p.Leu394=) n.517G>C c.1335G>C (p.Leu445=) | |
6 | g.35500135C>T | CA3772568 | TULP1 | c.1341G>A (p.Leu447=) c.1182G>A (p.Leu394=) n.517G>A c.1335G>A (p.Leu445=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500136A>C | CA363778965 | TULP1 | c.1340T>G (p.Leu447Arg) c.1181T>G (p.Leu394Arg) n.516T>G c.1334T>G (p.Leu445Arg) | |
6 | g.35500136A>G | CA363778963 | TULP1 | c.1340T>C (p.Leu447Pro) c.1181T>C (p.Leu394Pro) n.516T>C c.1334T>C (p.Leu445Pro) | |
6 | g.35500136A>T | CA363778964 | TULP1 | c.1340T>A (p.Leu447Gln) c.1181T>A (p.Leu394Gln) n.516T>A c.1334T>A (p.Leu445Gln) | |
6 | g.35500137G>A | CA449942476 | TULP1 | c.1339C>T (p.Leu447=) c.1180C>T (p.Leu394=) n.515C>T c.1333C>T (p.Leu445=) | |
6 | g.35500137G>C | CA363778966 | TULP1 | c.1339C>G (p.Leu447Val) c.1180C>G (p.Leu394Val) n.515C>G c.1333C>G (p.Leu445Val) | |
6 | g.35500137G>T | CA363778967 | TULP1 | c.1339C>A (p.Leu447Met) c.1180C>A (p.Leu394Met) n.515C>A c.1333C>A (p.Leu445Met) | |
6 | g.35500138C>A | CA449942477 | TULP1 | c.1338G>T (p.Leu446=) c.1179G>T (p.Leu393=) n.514G>T c.1332G>T (p.Leu444=) | |
6 | g.35500138C>G | CA449942478 | TULP1 | c.1338G>C (p.Leu446=) c.1179G>C (p.Leu393=) n.514G>C c.1332G>C (p.Leu444=) | |
6 | g.35500138C>T | CA449942479 | TULP1 | c.1338G>A (p.Leu446=) c.1179G>A (p.Leu393=) n.514G>A c.1332G>A (p.Leu444=) | gnomAD v4 |
6 | g.35500139A>C | CA363778968 | TULP1 | c.1337T>G (p.Leu446Arg) c.1178T>G (p.Leu393Arg) n.513T>G c.1331T>G (p.Leu444Arg) | |
6 | g.35500139A>G | CA363778969 | TULP1 | c.1337T>C (p.Leu446Pro) c.1178T>C (p.Leu393Pro) n.513T>C c.1331T>C (p.Leu444Pro) | |
6 | g.35500139A>T | CA363778970 | TULP1 | c.1337T>A (p.Leu446Gln) c.1178T>A (p.Leu393Gln) n.513T>A c.1331T>A (p.Leu444Gln) | |
6 | g.35500140G>A | CA449942480 | TULP1 | c.1336C>T (p.Leu446=) c.1177C>T (p.Leu393=) n.512C>T c.1330C>T (p.Leu444=) | |
6 | g.35500140G>C | CA363778971 | TULP1 | c.1336C>G (p.Leu446Val) c.1177C>G (p.Leu393Val) n.512C>G c.1330C>G (p.Leu444Val) | gnomAD v4 |
6 | g.35500140G>T | CA363778972 | TULP1 | c.1336C>A (p.Leu446Met) c.1177C>A (p.Leu393Met) n.512C>A c.1330C>A (p.Leu444Met) | |
6 | g.35500141G>A | CA449942481 | TULP1 | c.1335C>T (p.Gly445=) c.1176C>T (p.Gly392=) n.511C>T c.1329C>T (p.Gly443=) | |
6 | g.35500141G>C | CA449942483 | TULP1 | c.1335C>G (p.Gly445=) c.1176C>G (p.Gly392=) n.511C>G c.1329C>G (p.Gly443=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500141G= | CA1620929193 | TULP1 | c.1335C= (p.Gly445=) c.1176C= (p.Gly392=) n.511C= c.1329C= (p.Gly443=) | |
6 | g.35500141G>T | CA449942485 | TULP1 | c.1335C>A (p.Gly445=) c.1176C>A (p.Gly392=) n.511C>A c.1329C>A (p.Gly443=) | |
6 | g.35500142C>A | CA363778973 | TULP1 | c.1334G>T (p.Gly445Val) c.1175G>T (p.Gly392Val) n.510G>T c.1328G>T (p.Gly443Val) | |
6 | g.35500142C= | CA1620929197 | TULP1 | c.1334G= (p.Gly445=) c.1175G= (p.Gly392=) n.510G= c.1328G= (p.Gly443=) | |
6 | g.35500142C>G | CA363778974 | TULP1 | c.1334G>C (p.Gly445Ala) c.1175G>C (p.Gly392Ala) n.510G>C c.1328G>C (p.Gly443Ala) | gnomAD v4 |
6 | g.35500142C>T | CA3772569 | TULP1 | c.1334G>A (p.Gly445Asp) c.1175G>A (p.Gly392Asp) n.510G>A c.1328G>A (p.Gly443Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.35500143C>A | CA363778976 | TULP1 | c.1333G>T (p.Gly445Cys) c.1174G>T (p.Gly392Cys) n.509G>T c.1327G>T (p.Gly443Cys) | gnomAD v4 |
6 | g.35500143C= | CA1620929202 | TULP1 | c.1333G= (p.Gly445=) c.1174G= (p.Gly392=) n.509G= c.1327G= (p.Gly443=) | |
6 | g.35500143C>G | CA363778975 | TULP1 | c.1333G>C (p.Gly445Arg) c.1174G>C (p.Gly392Arg) n.509G>C c.1327G>C (p.Gly443Arg) | |
6 | g.35500143C>T | CA3772570 | TULP1 | c.1333G>A (p.Gly445Ser) c.1174G>A (p.Gly392Ser) n.509G>A c.1327G>A (p.Gly443Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500143_35500144del | CA2578594526 | TULP1 | c.1332_1333del (p.Asp444GlufsTer27) c.1173_1174del (p.Asp391GlufsTer27) n.508_509del c.1326_1327del (p.Asp442GlufsTer27) | |
6 | g.35500144G>A | CA3772571 | TULP1 | c.1332C>T (p.Asp444=) c.1173C>T (p.Asp391=) n.508C>T c.1326C>T (p.Asp442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500144G>C | CA137278262 | TULP1 | c.1332C>G (p.Asp444Glu) c.1173C>G (p.Asp391Glu) n.508C>G c.1326C>G (p.Asp442Glu) | dbSNP gnomAD v4 |
6 | g.35500144G= | CA1620929208 | TULP1 | c.1332C= (p.Asp444=) c.1173C= (p.Asp391=) n.508C= c.1326C= (p.Asp442=) | |
6 | g.35500144G>T | CA363778977 | TULP1 | c.1332C>A (p.Asp444Glu) c.1173C>A (p.Asp391Glu) n.508C>A c.1326C>A (p.Asp442Glu) | |
6 | g.35500144_35500145insACAAAGCCCGCCA | CA2518996704 | TULP1 | c.1331_1332insTGGCGGGCTTTGT (p.Leu446GlyfsTer30) c.1172_1173insTGGCGGGCTTTGT (p.Leu393GlyfsTer30) n.507_508insTGGCGGGCTTTGT c.1325_1326insTGGCGGGCTTTGT (p.Leu444GlyfsTer30) | |
6 | g.35500144_35500145insACAAAGCCCGCCATCGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGACGGCACATTTTTGCGCACCGCCGCTATCGCGCCGACGA | CA2770629824 | TULP1 | c.1331_1332insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT (p.Gly445ArgfsTer60) c.1172_1173insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT (p.Gly392ArgfsTer60) n.507_508insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT c.1325_1326insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT (p.Gly443ArgfsTer60) | |
6 | g.35500145T>A | CA363778978 | TULP1 | c.1331A>T (p.Asp444Val) c.1172A>T (p.Asp391Val) n.507A>T c.1325A>T (p.Asp442Val) | |
6 | g.35500145T>C | CA363778979 | TULP1 | c.1331A>G (p.Asp444Gly) c.1172A>G (p.Asp391Gly) n.507A>G c.1325A>G (p.Asp442Gly) | |
6 | g.35500145T>G | CA363778980 | TULP1 | c.1331A>C (p.Asp444Ala) c.1172A>C (p.Asp391Ala) n.507A>C c.1325A>C (p.Asp442Ala) | dbSNP |
6 | g.35500145T= | CA1620929213 | TULP1 | c.1331A= (p.Asp444=) c.1172A= (p.Asp391=) n.507A= c.1325A= (p.Asp442=) | |
6 | g.35500146C>A | CA363778981 | TULP1 | c.1330G>T (p.Asp444Tyr) c.1171G>T (p.Asp391Tyr) n.506G>T c.1324G>T (p.Asp442Tyr) | |
6 | g.35500146C= | CA1620929217 | TULP1 | c.1330G= (p.Asp444=) c.1171G= (p.Asp391=) n.506G= c.1324G= (p.Asp442=) | |
6 | g.35500146C>G | CA363778982 | TULP1 | c.1330G>C (p.Asp444His) c.1171G>C (p.Asp391His) n.506G>C c.1324G>C (p.Asp442His) | |
6 | g.35500146C>T | CA3772572 | TULP1 | c.1330G>A (p.Asp444Asn) c.1171G>A (p.Asp391Asn) n.506G>A c.1324G>A (p.Asp442Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTTGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAATAC | CA2508687217 | TULP1 | c.1330_1331insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG (p.Asp444ValfsTer53) c.1171_1172insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG (p.Asp391ValfsTer53) n.506_507insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG c.1324_1325insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG (p.Asp442ValfsTer53) | |
6 | g.35500146_35500147insGCGGAA | CA2770629828 | TULP1 | c.1329_1330insTTCCGC (p.Ser443_Asp444insPheArg) c.1170_1171insTTCCGC (p.Ser390_Asp391insPheArg) n.505_506insTTCCGC c.1323_1324insTTCCGC (p.Ser441_Asp442insPheArg) | |
6 | g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGA | CA2770629829 | TULP1 | c.1329_1330insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC (p.Asp444SerfsTer12) c.1170_1171insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC (p.Asp391SerfsTer12) n.505_506insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC c.1323_1324insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC (p.Asp442SerfsTer12) | |
6 | g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCTGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAACACAA | CA2528914988 | TULP1 | c.1329_1330insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC (p.Asp444LeufsTer14) c.1170_1171insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC (p.Asp391LeufsTer14) n.505_506insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC c.1323_1324insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC (p.Asp442LeufsTer14) | |
6 | g.35500147A>C | CA363778983 | TULP1 | c.1329T>G (p.Ser443Arg) c.1170T>G (p.Ser390Arg) n.505T>G c.1323T>G (p.Ser441Arg) | |
6 | g.35500147A>G | CA449942493 | TULP1 | c.1329T>C (p.Ser443=) c.1170T>C (p.Ser390=) n.505T>C c.1323T>C (p.Ser441=) | |
6 | g.35500147A>T | CA363778984 | TULP1 | c.1329T>A (p.Ser443Arg) c.1170T>A (p.Ser390Arg) n.505T>A c.1323T>A (p.Ser441Arg) | |
6 | g.35500148C>A | CA363778987 | TULP1 | c.1328G>T (p.Ser443Ile) c.1169G>T (p.Ser390Ile) n.504G>T c.1322G>T (p.Ser441Ile) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.35500148C= | CA1620929221 | TULP1 | c.1328G= (p.Ser443=) c.1169G= (p.Ser390=) n.504G= c.1322G= (p.Ser441=) | |
6 | g.35500148C>G | CA363778986 | TULP1 | c.1328G>C (p.Ser443Thr) c.1169G>C (p.Ser390Thr) n.504G>C c.1322G>C (p.Ser441Thr) | |
6 | g.35500148C>T | CA363778985 | TULP1 | c.1328G>A (p.Ser443Asn) c.1169G>A (p.Ser390Asn) n.504G>A c.1322G>A (p.Ser441Asn) | ClinVar |
6 | g.35500148_35500149insCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTACGCACCGCCGCTATCGCGCCGACGA | CA2770629830 | TULP1 | c.1327_1328insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG (p.Ser443IlefsTer43) c.1168_1169insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG (p.Ser390IlefsTer43) n.503_504insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG c.1321_1322insTCGTCGGCGCGATAGCGGCGGTGCGTAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGG (p.Ser441IlefsTer43) | |
6 | g.35500149T>A | CA3772573 | TULP1 | c.1327A>T (p.Ser443Cys) c.1168A>T (p.Ser390Cys) n.503A>T c.1321A>T (p.Ser441Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.35500149T>C | CA363778988 | TULP1 | c.1327A>G (p.Ser443Gly) c.1168A>G (p.Ser390Gly) n.503A>G c.1321A>G (p.Ser441Gly) | |
6 | g.35500149T>G | CA363778989 | TULP1 | c.1327A>C (p.Ser443Arg) c.1168A>C (p.Ser390Arg) n.503A>C c.1321A>C (p.Ser441Arg) | |
6 | g.35500149T= | CA1620929224 | TULP1 | c.1327A= (p.Ser443=) c.1168A= (p.Ser390=) n.503A= c.1321A= (p.Ser441=) |