Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.35500022_35500046delinsTGGGTGACCCGGCCTTGGAAGTTGACA1620928963TULP1c.1430_1454delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu477=)
c.1271_1295delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu424=)
c.1424_1448delinsTCAACTTCCAAGGCCGGGTCACCCA (p.Leu475=)
6g.35500028_35500051delCA1620928965TULP1c.1430_1453del (p.Leu477_Thr484del)
c.1271_1294del (p.Leu424_Thr431del)
c.1424_1447del (p.Leu475_Thr482del)
 ClinVar dbSNP gnomAD v4
6g.35500044T>ACA363778680TULP1c.1432A>T (p.Asn478Tyr)
c.1273A>T (p.Asn425Tyr)
c.1426A>T (p.Asn476Tyr)
6g.35500044T>CCA363778681TULP1c.1432A>G (p.Asn478Asp)
c.1273A>G (p.Asn425Asp)
c.1426A>G (p.Asn476Asp)
6g.35500044T>GCA363778683TULP1c.1432A>C (p.Asn478His)
c.1273A>C (p.Asn425His)
c.1426A>C (p.Asn476His)
 gnomAD v4
6g.35500045G>ACA137278093TULP1c.1431C>T (p.Leu477=)
c.1272C>T (p.Leu424=)
c.1425C>T (p.Leu475=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.35500045G>CCA449942354TULP1c.1431C>G (p.Leu477=)
c.1272C>G (p.Leu424=)
c.1425C>G (p.Leu475=)
6g.35500045G=CA1620929004TULP1c.1431C= (p.Leu477=)
c.1272C= (p.Leu424=)
c.1425C= (p.Leu475=)
6g.35500045G>TCA449942355TULP1c.1431C>A (p.Leu477=)
c.1272C>A (p.Leu424=)
c.1425C>A (p.Leu475=)
6g.35500046A=CA1620929007TULP1c.1430T= (p.Leu477=)
c.1271T= (p.Leu424=)
c.1424T= (p.Leu475=)
6g.35500046A>CCA363778685TULP1c.1430T>G (p.Leu477Arg)
c.1271T>G (p.Leu424Arg)
c.1424T>G (p.Leu475Arg)
6g.35500046A>GCA363778687TULP1c.1430T>C (p.Leu477Pro)
c.1271T>C (p.Leu424Pro)
c.1424T>C (p.Leu475Pro)
 dbSNP gnomAD v3 gnomAD v4
6g.35500046A>TCA363778688TULP1c.1430T>A (p.Leu477His)
c.1271T>A (p.Leu424His)
c.1424T>A (p.Leu475His)
6g.35500047G>ACA363778689TULP1c.1429C>T (p.Leu477Phe)
c.1270C>T (p.Leu424Phe)
c.1423C>T (p.Leu475Phe)
 gnomAD v4
6g.35500047G>CCA363778691TULP1c.1429C>G (p.Leu477Val)
c.1270C>G (p.Leu424Val)
c.1423C>G (p.Leu475Val)
 ClinVar dbSNP
6g.35500047G=CA1620929009TULP1c.1429C= (p.Leu477=)
c.1270C= (p.Leu424=)
c.1423C= (p.Leu475=)
6g.35500047G>TCA363778693TULP1c.1429C>A (p.Leu477Ile)
c.1270C>A (p.Leu424Ile)
c.1423C>A (p.Leu475Ile)
6g.35500048G>ACA449942359TULP1c.1428C>T (p.Thr476=)
c.1269C>T (p.Thr423=)
c.1422C>T (p.Thr474=)
 gnomAD v4
6g.35500048G>CCA449942360TULP1c.1428C>G (p.Thr476=)
c.1269C>G (p.Thr423=)
c.1422C>G (p.Thr474=)
6g.35500048G>TCA449942361TULP1c.1428C>A (p.Thr476=)
c.1269C>A (p.Thr423=)
c.1422C>A (p.Thr474=)
6g.35500049G>ACA363778695TULP1c.1427C>T (p.Thr476Ile)
c.1268C>T (p.Thr423Ile)
c.1421C>T (p.Thr474Ile)
 dbSNP
6g.35500049G>CCA363778697TULP1c.1427C>G (p.Thr476Ser)
c.1268C>G (p.Thr423Ser)
c.1421C>G (p.Thr474Ser)
6g.35500049G=CA1620929011TULP1c.1427C= (p.Thr476=)
c.1268C= (p.Thr423=)
c.1421C= (p.Thr474=)
6g.35500049G>TCA3772554TULP1c.1427C>A (p.Thr476Asn)
c.1268C>A (p.Thr423Asn)
c.1421C>A (p.Thr474Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500050T>ACA363778700TULP1c.1426A>T (p.Thr476Ser)
c.1267A>T (p.Thr423Ser)
c.1420A>T (p.Thr474Ser)
6g.35500050T>CCA363778704TULP1c.1426A>G (p.Thr476Ala)
c.1267A>G (p.Thr423Ala)
c.1420A>G (p.Thr474Ala)
6g.35500050T>GCA363778702TULP1c.1426A>C (p.Thr476Pro)
c.1267A>C (p.Thr423Pro)
c.1420A>C (p.Thr474Pro)
6g.35500051G>ACA449942365TULP1c.1425C>T (p.Tyr475=)
c.1266C>T (p.Tyr422=)
c.1419C>T (p.Tyr473=)
 dbSNP gnomAD v2 gnomAD v4
6g.35500051G>CCA363778705TULP1c.1425C>G (p.Tyr475Ter)
c.1266C>G (p.Tyr422Ter)
c.1419C>G (p.Tyr473Ter)
6g.35500051G=CA1620929015TULP1c.1425C= (p.Tyr475=)
c.1266C= (p.Tyr422=)
c.1419C= (p.Tyr473=)
6g.35500051G>TCA363778706TULP1c.1425C>A (p.Tyr475Ter)
c.1266C>A (p.Tyr422Ter)
c.1419C>A (p.Tyr473Ter)
6g.35500052T>ACA363778709TULP1c.1424A>T (p.Tyr475Phe)
c.1265A>T (p.Tyr422Phe)
c.1418A>T (p.Tyr473Phe)
6g.35500052T>CCA363778710TULP1c.1424A>G (p.Tyr475Cys)
c.1265A>G (p.Tyr422Cys)
c.1418A>G (p.Tyr473Cys)
 gnomAD v4
6g.35500052T>GCA363778712TULP1c.1424A>C (p.Tyr475Ser)
c.1265A>C (p.Tyr422Ser)
c.1418A>C (p.Tyr473Ser)
6g.35500053A>CCA363778716TULP1c.1423T>G (p.Tyr475Asp)
c.1264T>G (p.Tyr422Asp)
c.1417T>G (p.Tyr473Asp)
6g.35500053A>GCA363778715TULP1c.1423T>C (p.Tyr475His)
c.1264T>C (p.Tyr422His)
c.1417T>C (p.Tyr473His)
6g.35500053A>TCA363778714TULP1c.1423T>A (p.Tyr475Asn)
c.1264T>A (p.Tyr422Asn)
c.1417T>A (p.Tyr473Asn)
6g.35500054G>ACA449942371TULP1c.1422C>T (p.Ser474=)
c.1263C>T (p.Ser421=)
c.1416C>T (p.Ser472=)
6g.35500054G>CCA449942369TULP1c.1422C>G (p.Ser474=)
c.1263C>G (p.Ser421=)
c.1416C>G (p.Ser472=)
6g.35500054G>TCA449942370TULP1c.1422C>A (p.Ser474=)
c.1263C>A (p.Ser421=)
c.1416C>A (p.Ser472=)
6g.35500055G>ACA363778718TULP1c.1421C>T (p.Ser474Phe)
c.1262C>T (p.Ser421Phe)
c.1415C>T (p.Ser472Phe)
6g.35500055G>CCA363778720TULP1c.1421C>G (p.Ser474Cys)
c.1262C>G (p.Ser421Cys)
c.1415C>G (p.Ser472Cys)
6g.35500055G>TCA363778722TULP1c.1421C>A (p.Ser474Tyr)
c.1262C>A (p.Ser421Tyr)
c.1415C>A (p.Ser472Tyr)
6g.35500056A>CCA363778724TULP1c.1420T>G (p.Ser474Ala)
c.1261T>G (p.Ser421Ala)
c.1414T>G (p.Ser472Ala)
 gnomAD v4
6g.35500056A>GCA363778726TULP1c.1420T>C (p.Ser474Pro)
c.1261T>C (p.Ser421Pro)
c.1414T>C (p.Ser472Pro)
6g.35500056A>TCA363778728TULP1c.1420T>A (p.Ser474Thr)
c.1261T>A (p.Ser421Thr)
c.1414T>A (p.Ser472Thr)
6g.35500057G>ACA449942374TULP1c.1419C>T (p.Gly473=)
c.1260C>T (p.Gly420=)
c.1413C>T (p.Gly471=)
6g.35500057G>CCA449942376TULP1c.1419C>G (p.Gly473=)
c.1260C>G (p.Gly420=)
c.1413C>G (p.Gly471=)
6g.35500057G>TCA449942377TULP1c.1419C>A (p.Gly473=)
c.1260C>A (p.Gly420=)
c.1413C>A (p.Gly471=)
6g.35500058C>ACA363778734TULP1c.1418G>T (p.Gly473Val)
c.1259G>T (p.Gly420Val)
c.1412G>T (p.Gly471Val)
6g.35500058C>GCA363778730TULP1c.1418G>C (p.Gly473Ala)
c.1259G>C (p.Gly420Ala)
c.1412G>C (p.Gly471Ala)
 COSMIC
6g.35500058C>TCA363778732TULP1c.1418G>A (p.Gly473Asp)
c.1259G>A (p.Gly420Asp)
c.1412G>A (p.Gly471Asp)
6g.35500059C>ACA363778735TULP1c.1417G>T (p.Gly473Cys)
c.1258G>T (p.Gly420Cys)
c.1411G>T (p.Gly471Cys)
6g.35500059C>GCA363778736TULP1c.1417G>C (p.Gly473Arg)
c.1258G>C (p.Gly420Arg)
c.1411G>C (p.Gly471Arg)
6g.35500059C>TCA363778737TULP1c.1417G>A (p.Gly473Ser)
c.1258G>A (p.Gly420Ser)
c.1411G>A (p.Gly471Ser)
6g.35500060A>CCA363778738TULP1c.1416T>G (p.Ser472Arg)
c.1257T>G (p.Ser419Arg)
c.1410T>G (p.Ser470Arg)
6g.35500060A>GCA449942381TULP1c.1416T>C (p.Ser472=)
c.1257T>C (p.Ser419=)
c.1410T>C (p.Ser470=)
 gnomAD v4
6g.35500060A>TCA363778740TULP1c.1416T>A (p.Ser472Arg)
c.1257T>A (p.Ser419Arg)
c.1410T>A (p.Ser470Arg)
6g.35500061C>ACA363778742TULP1c.1415G>T (p.Ser472Ile)
c.1256G>T (p.Ser419Ile)
c.1409G>T (p.Ser470Ile)
6g.35500061C=CA1620929018TULP1c.1415G= (p.Ser472=)
c.1256G= (p.Ser419=)
c.1409G= (p.Ser470=)
6g.35500061C>GCA363778743TULP1c.1415G>C (p.Ser472Thr)
c.1256G>C (p.Ser419Thr)
c.1409G>C (p.Ser470Thr)
6g.35500061C>TCA363778745TULP1c.1415G>A (p.Ser472Asn)
c.1256G>A (p.Ser419Asn)
c.1409G>A (p.Ser470Asn)
 dbSNP gnomAD v4
6g.35500062T>ACA363778747TULP1c.1414A>T (p.Ser472Cys)
c.1255A>T (p.Ser419Cys)
c.1408A>T (p.Ser470Cys)
6g.35500062T>CCA363778749TULP1c.1414A>G (p.Ser472Gly)
c.1255A>G (p.Ser419Gly)
c.1408A>G (p.Ser470Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.35500062T>GCA363778750TULP1c.1414A>C (p.Ser472Arg)
c.1255A>C (p.Ser419Arg)
c.1408A>C (p.Ser470Arg)
6g.35500062T=CA1620929020TULP1c.1414A= (p.Ser472=)
c.1255A= (p.Ser419=)
c.1408A= (p.Ser470=)
6g.35500063G>ACA449942383TULP1c.1413C>T (p.Asp471=)
c.1254C>T (p.Asp418=)
c.1407C>T (p.Asp469=)
6g.35500063G>CCA363778752TULP1c.1413C>G (p.Asp471Glu)
c.1254C>G (p.Asp418Glu)
c.1407C>G (p.Asp469Glu)
6g.35500063G>TCA363778754TULP1c.1413C>A (p.Asp471Glu)
c.1254C>A (p.Asp418Glu)
c.1407C>A (p.Asp469Glu)
6g.35500064T>ACA363778756TULP1c.1412A>T (p.Asp471Val)
c.1253A>T (p.Asp418Val)
c.1406A>T (p.Asp469Val)
6g.35500064T>CCA363778759TULP1c.1412A>G (p.Asp471Gly)
c.1253A>G (p.Asp418Gly)
c.1406A>G (p.Asp469Gly)
6g.35500064T>GCA363778757TULP1c.1412A>C (p.Asp471Ala)
c.1253A>C (p.Asp418Ala)
c.1406A>C (p.Asp469Ala)
6g.35500065C>ACA363778761TULP1c.1411G>T (p.Asp471Tyr)
c.1252G>T (p.Asp418Tyr)
c.1405G>T (p.Asp469Tyr)
6g.35500065C=CA1620929022TULP1c.1411G= (p.Asp471=)
c.1252G= (p.Asp418=)
c.1405G= (p.Asp469=)
6g.35500065C>GCA363778762TULP1c.1411G>C (p.Asp471His)
c.1252G>C (p.Asp418His)
c.1405G>C (p.Asp469His)
6g.35500065C>TCA363778764TULP1c.1411G>A (p.Asp471Asn)
c.1252G>A (p.Asp418Asn)
c.1405G>A (p.Asp469Asn)
 dbSNP gnomAD v2
6g.35500066A>CCA363778766TULP1c.1410T>G (p.Asp470Glu)
c.1251T>G (p.Asp417Glu)
c.1404T>G (p.Asp468Glu)
6g.35500066A>GCA449942387TULP1c.1410T>C (p.Asp470=)
c.1251T>C (p.Asp417=)
c.1404T>C (p.Asp468=)
6g.35500066A>TCA363778768TULP1c.1410T>A (p.Asp470Glu)
c.1251T>A (p.Asp417Glu)
c.1404T>A (p.Asp468Glu)
6g.35500067T>ACA363778769TULP1c.1409A>T (p.Asp470Val)
c.1250A>T (p.Asp417Val)
c.1403A>T (p.Asp468Val)
6g.35500067T>CCA363778770TULP1c.1409A>G (p.Asp470Gly)
c.1250A>G (p.Asp417Gly)
c.1403A>G (p.Asp468Gly)
6g.35500067T>GCA363778771TULP1c.1409A>C (p.Asp470Ala)
c.1250A>C (p.Asp417Ala)
c.1403A>C (p.Asp468Ala)
6g.35500068C>ACA363778772TULP1c.1408G>T (p.Asp470Tyr)
c.1249G>T (p.Asp417Tyr)
c.1402G>T (p.Asp468Tyr)
 dbSNP
6g.35500068C=CA1620929026TULP1c.1408G= (p.Asp470=)
c.1249G= (p.Asp417=)
c.1402G= (p.Asp468=)
6g.35500068C>GCA363778774TULP1c.1408G>C (p.Asp470His)
c.1249G>C (p.Asp417His)
c.1402G>C (p.Asp468His)
6g.35500068C>TCA137278095TULP1c.1408G>A (p.Asp470Asn)
c.1249G>A (p.Asp417Asn)
c.1402G>A (p.Asp468Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.35500069G>ACA3772555TULP1c.1407C>T (p.Asn469=)
c.1248C>T (p.Asn416=)
c.1401C>T (p.Asn467=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35500069G>CCA363778778TULP1c.1407C>G (p.Asn469Lys)
c.1248C>G (p.Asn416Lys)
c.1401C>G (p.Asn467Lys)
6g.35500069G=CA1620929032TULP1c.1407C= (p.Asn469=)
c.1248C= (p.Asn416=)
c.1401C= (p.Asn467=)
6g.35500069G>TCA363778776TULP1c.1407C>A (p.Asn469Lys)
c.1248C>A (p.Asn416Lys)
c.1401C>A (p.Asn467Lys)
 gnomAD v4
6g.35500070T>ACA363778781TULP1c.1406A>T (p.Asn469Ile)
c.1247A>T (p.Asn416Ile)
n.582A>T
c.1400A>T (p.Asn467Ile)
6g.35500070T>CCA3772556TULP1c.1406A>G (p.Asn469Ser)
c.1247A>G (p.Asn416Ser)
n.582A>G
c.1400A>G (p.Asn467Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500070T>GCA363778783TULP1c.1406A>C (p.Asn469Thr)
c.1247A>C (p.Asn416Thr)
n.582A>C
c.1400A>C (p.Asn467Thr)
6g.35500070T=CA1620929035TULP1c.1406A= (p.Asn469=)
c.1247A= (p.Asn416=)
n.582A=
c.1400A= (p.Asn467=)
6g.35500071T>ACA363778784TULP1c.1405A>T (p.Asn469Tyr)
c.1246A>T (p.Asn416Tyr)
n.581A>T
c.1399A>T (p.Asn467Tyr)
6g.35500071T>CCA363778786TULP1c.1405A>G (p.Asn469Asp)
c.1246A>G (p.Asn416Asp)
n.581A>G
c.1399A>G (p.Asn467Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.35500071T>GCA363778788TULP1c.1405A>C (p.Asn469His)
c.1246A>C (p.Asn416His)
n.581A>C
c.1399A>C (p.Asn467His)
 ClinVar
6g.35500071T=CA1620929037TULP1c.1405A= (p.Asn469=)
c.1246A= (p.Asn416=)
n.581A=
c.1399A= (p.Asn467=)
6g.35500072C>ACA363778789TULP1c.1404G>T (p.Trp468Cys)
c.1245G>T (p.Trp415Cys)
n.580G>T
c.1398G>T (p.Trp466Cys)
6g.35500072C>GCA363778791TULP1c.1404G>C (p.Trp468Cys)
c.1245G>C (p.Trp415Cys)
n.580G>C
c.1398G>C (p.Trp466Cys)
6g.35500072C>TCA363778792TULP1c.1404G>A (p.Trp468Ter)
c.1245G>A (p.Trp415Ter)
n.580G>A
c.1398G>A (p.Trp466Ter)
6g.35500073C>ACA363778794TULP1c.1403G>T (p.Trp468Leu)
c.1244G>T (p.Trp415Leu)
n.579G>T
c.1397G>T (p.Trp466Leu)
6g.35500073C=CA1620929042TULP1c.1403G= (p.Trp468=)
c.1244G= (p.Trp415=)
n.579G=
c.1397G= (p.Trp466=)
6g.35500073C>GCA363778796TULP1c.1403G>C (p.Trp468Ser)
c.1244G>C (p.Trp415Ser)
n.579G>C
c.1397G>C (p.Trp466Ser)
 dbSNP gnomAD v4
6g.35500073C>TCA363778797TULP1c.1403G>A (p.Trp468Ter)
c.1244G>A (p.Trp415Ter)
n.579G>A
c.1397G>A (p.Trp466Ter)
6g.35500074A>CCA363778799TULP1c.1402T>G (p.Trp468Gly)
c.1243T>G (p.Trp415Gly)
n.578T>G
c.1396T>G (p.Trp466Gly)
6g.35500074A>GCA363778802TULP1c.1402T>C (p.Trp468Arg)
c.1243T>C (p.Trp415Arg)
n.578T>C
c.1396T>C (p.Trp466Arg)
6g.35500074A>TCA363778801TULP1c.1402T>A (p.Trp468Arg)
c.1243T>A (p.Trp415Arg)
n.578T>A
c.1396T>A (p.Trp466Arg)
6g.35500075G>ACA449942393TULP1c.1401C>T (p.Val467=)
c.1242C>T (p.Val414=)
n.577C>T
c.1395C>T (p.Val465=)
 dbSNP gnomAD v2 gnomAD v4
6g.35500075G>CCA449942395TULP1c.1401C>G (p.Val467=)
c.1242C>G (p.Val414=)
n.577C>G
c.1395C>G (p.Val465=)
 gnomAD v4
6g.35500075G=CA1620929043TULP1c.1401C= (p.Val467=)
c.1242C= (p.Val414=)
n.577C=
c.1395C= (p.Val465=)
6g.35500075G>TCA449942396TULP1c.1401C>A (p.Val467=)
c.1242C>A (p.Val414=)
n.577C>A
c.1395C>A (p.Val465=)
 gnomAD v4
6g.35500076A>CCA363778804TULP1c.1400T>G (p.Val467Gly)
c.1241T>G (p.Val414Gly)
n.576T>G
c.1394T>G (p.Val465Gly)
6g.35500076A>GCA363778808TULP1c.1400T>C (p.Val467Ala)
c.1241T>C (p.Val414Ala)
n.576T>C
c.1394T>C (p.Val465Ala)
6g.35500076A>TCA363778806TULP1c.1400T>A (p.Val467Asp)
c.1241T>A (p.Val414Asp)
n.576T>A
c.1394T>A (p.Val465Asp)
6g.35500077C>ACA363778810TULP1c.1399G>T (p.Val467Phe)
c.1240G>T (p.Val414Phe)
n.575G>T
c.1393G>T (p.Val465Phe)
6g.35500077C=CA1620929044TULP1c.1399G= (p.Val467=)
c.1240G= (p.Val414=)
n.575G=
c.1393G= (p.Val465=)
6g.35500077C>GCA363778812TULP1c.1399G>C (p.Val467Leu)
c.1240G>C (p.Val414Leu)
n.575G>C
c.1393G>C (p.Val465Leu)
 ClinVar dbSNP gnomAD v4
6g.35500077C>TCA3772557TULP1c.1399G>A (p.Val467Ile)
c.1240G>A (p.Val414Ile)
n.575G>A
c.1393G>A (p.Val465Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500078A>CCA449942398TULP1c.1398T>G (p.Pro466=)
c.1239T>G (p.Pro413=)
n.574T>G
c.1392T>G (p.Pro464=)
6g.35500078A>GCA449942399TULP1c.1398T>C (p.Pro466=)
c.1239T>C (p.Pro413=)
n.574T>C
c.1392T>C (p.Pro464=)
 ClinVar gnomAD v4
6g.35500078A>TCA449942400TULP1c.1398T>A (p.Pro466=)
c.1239T>A (p.Pro413=)
n.574T>A
c.1392T>A (p.Pro464=)
6g.35500078dupCA2678413968TULP1c.1398dup (p.Val467CysfsTer5)
c.1239dup (p.Val414CysfsTer5)
n.574dup
c.1392dup (p.Val465CysfsTer5)
 gnomAD v4
6g.35500079G>ACA363778814TULP1c.1397C>T (p.Pro466Leu)
c.1238C>T (p.Pro413Leu)
n.573C>T
c.1391C>T (p.Pro464Leu)
 dbSNP gnomAD v4
6g.35500079G>CCA363778816TULP1c.1397C>G (p.Pro466Arg)
c.1238C>G (p.Pro413Arg)
n.573C>G
c.1391C>G (p.Pro464Arg)
6g.35500079G=CA1620929046TULP1c.1397C= (p.Pro466=)
c.1238C= (p.Pro413=)
n.573C=
c.1391C= (p.Pro464=)
6g.35500079G>TCA363778818TULP1c.1397C>A (p.Pro466His)
c.1238C>A (p.Pro413His)
n.573C>A
c.1391C>A (p.Pro464His)
6g.35500080G>ACA137278154TULP1c.1396C>T (p.Pro466Ser)
c.1237C>T (p.Pro413Ser)
n.572C>T
c.1390C>T (p.Pro464Ser)
 ClinVar dbSNP
6g.35500080G>CCA363778819TULP1c.1396C>G (p.Pro466Ala)
c.1237C>G (p.Pro413Ala)
n.572C>G
c.1390C>G (p.Pro464Ala)
6g.35500080G=CA1620929050TULP1c.1396C= (p.Pro466=)
c.1237C= (p.Pro413=)
n.572C=
c.1390C= (p.Pro464=)
6g.35500080G>TCA363778822TULP1c.1396C>A (p.Pro466Thr)
c.1237C>A (p.Pro413Thr)
n.572C>A
c.1390C>A (p.Pro464Thr)
6g.35500081T>ACA449942402TULP1c.1395A>T (p.Pro465=)
c.1236A>T (p.Pro412=)
n.571A>T
c.1389A>T (p.Pro463=)
6g.35500081T>CCA449942403TULP1c.1395A>G (p.Pro465=)
c.1236A>G (p.Pro412=)
n.571A>G
c.1389A>G (p.Pro463=)
6g.35500081T>GCA449942404TULP1c.1395A>C (p.Pro465=)
c.1236A>C (p.Pro412=)
n.571A>C
c.1389A>C (p.Pro463=)
6g.35500082G>ACA363778824TULP1c.1394C>T (p.Pro465Leu)
c.1235C>T (p.Pro412Leu)
n.570C>T
c.1388C>T (p.Pro463Leu)
6g.35500082G>CCA137278161TULP1c.1394C>G (p.Pro465Arg)
c.1235C>G (p.Pro412Arg)
n.570C>G
c.1388C>G (p.Pro463Arg)
 dbSNP gnomAD v4
6g.35500082G=CA1620929054TULP1c.1394C= (p.Pro465=)
c.1235C= (p.Pro412=)
n.570C=
c.1388C= (p.Pro463=)
6g.35500082G>TCA363778826TULP1c.1394C>A (p.Pro465Gln)
c.1235C>A (p.Pro412Gln)
n.570C>A
c.1388C>A (p.Pro463Gln)
6g.35500083G>ACA363778828TULP1c.1393C>T (p.Pro465Ser)
c.1234C>T (p.Pro412Ser)
n.569C>T
c.1387C>T (p.Pro463Ser)
 gnomAD v4
6g.35500083G>CCA363778830TULP1c.1393C>G (p.Pro465Ala)
c.1234C>G (p.Pro412Ala)
n.569C>G
c.1387C>G (p.Pro463Ala)
6g.35500083G=CA1620929056TULP1c.1393C= (p.Pro465=)
c.1234C= (p.Pro412=)
n.569C=
c.1387C= (p.Pro463=)
6g.35500083G>TCA137278168TULP1c.1393C>A (p.Pro465Thr)
c.1234C>A (p.Pro412Thr)
n.569C>A
c.1387C>A (p.Pro463Thr)
 dbSNP gnomAD v4
6g.35500084C>ACA363778834TULP1c.1392G>T (p.Lys464Asn)
c.1233G>T (p.Lys411Asn)
n.568G>T
c.1386G>T (p.Lys462Asn)
6g.35500084C>GCA363778832TULP1c.1392G>C (p.Lys464Asn)
c.1233G>C (p.Lys411Asn)
n.568G>C
c.1386G>C (p.Lys462Asn)
6g.35500084C>TCA449942409TULP1c.1392G>A (p.Lys464=)
c.1233G>A (p.Lys411=)
n.568G>A
c.1386G>A (p.Lys462=)
6g.35500085T>ACA363778836TULP1c.1391A>T (p.Lys464Met)
c.1232A>T (p.Lys411Met)
n.567A>T
c.1385A>T (p.Lys462Met)
 dbSNP gnomAD v3 gnomAD v4
6g.35500085T>CCA363778838TULP1c.1391A>G (p.Lys464Arg)
c.1232A>G (p.Lys411Arg)
n.567A>G
c.1385A>G (p.Lys462Arg)
6g.35500085T>GCA363778839TULP1c.1391A>C (p.Lys464Thr)
c.1232A>C (p.Lys411Thr)
n.567A>C
c.1385A>C (p.Lys462Thr)
6g.35500085T=CA1620929059TULP1c.1391A= (p.Lys464=)
c.1232A= (p.Lys411=)
n.567A=
c.1385A= (p.Lys462=)
6g.35500089_35500091delCA2678413969TULP1c.1389_1391del (p.Asn463del)
c.1230_1232del (p.Asn410del)
n.565_567del
c.1383_1385del (p.Asn461del)
 ClinVar gnomAD v4
6g.35500086T>ACA363778841TULP1c.1390A>T (p.Lys464Ter)
c.1231A>T (p.Lys411Ter)
n.566A>T
c.1384A>T (p.Lys462Ter)
6g.35500086T>CCA363778842TULP1c.1390A>G (p.Lys464Glu)
c.1231A>G (p.Lys411Glu)
n.566A>G
c.1384A>G (p.Lys462Glu)
6g.35500086T>GCA137278178TULP1c.1390A>C (p.Lys464Gln)
c.1231A>C (p.Lys411Gln)
n.566A>C
c.1384A>C (p.Lys462Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.35500086T=CA1620929061TULP1c.1390A= (p.Lys464=)
c.1231A= (p.Lys411=)
n.566A=
c.1384A= (p.Lys462=)
6g.35500087G>ACA449942412TULP1c.1389C>T (p.Asn463=)
c.1230C>T (p.Asn410=)
n.565C>T
c.1383C>T (p.Asn461=)
6g.35500087G>CCA137278183TULP1c.1389C>G (p.Asn463Lys)
c.1230C>G (p.Asn410Lys)
n.565C>G
c.1383C>G (p.Asn461Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.35500087G=CA1620929065TULP1c.1389C= (p.Asn463=)
c.1230C= (p.Asn410=)
n.565C=
c.1383C= (p.Asn461=)
6g.35500087G>TCA363778843TULP1c.1389C>A (p.Asn463Lys)
c.1230C>A (p.Asn410Lys)
n.565C>A
c.1383C>A (p.Asn461Lys)
 ClinVar dbSNP gnomAD v4
6g.35500087_35500088delinsGTCA1620929067TULP1c.1388_1389delinsAC (p.Asn463=)
c.1229_1230delinsAC (p.Asn410=)
n.564_565delinsAC
c.1382_1383delinsAC (p.Asn461=)
6g.35500088T>ACA363778844TULP1c.1388A>T (p.Asn463Ile)
c.1229A>T (p.Asn410Ile)
n.564A>T
c.1382A>T (p.Asn461Ile)
6g.35500088T>CCA363778845TULP1c.1388A>G (p.Asn463Ser)
c.1229A>G (p.Asn410Ser)
n.564A>G
c.1382A>G (p.Asn461Ser)
6g.35500088T>GCA363778846TULP1c.1388A>C (p.Asn463Thr)
c.1229A>C (p.Asn410Thr)
n.564A>C
c.1382A>C (p.Asn461Thr)
6g.35500089delCA915944234TULP1c.1388del (p.Asn463ThrfsTer?)
c.1229del (p.Asn410ThrfsTer?)
n.564del
c.1382del (p.Asn461ThrfsTer?)
 ClinVar dbSNP
6g.35500089T>ACA363778850TULP1c.1387A>T (p.Asn463Tyr)
c.1228A>T (p.Asn410Tyr)
n.563A>T
c.1381A>T (p.Asn461Tyr)
 ClinVar dbSNP
6g.35500089T>CCA363778849TULP1c.1387A>G (p.Asn463Asp)
c.1228A>G (p.Asn410Asp)
n.563A>G
c.1381A>G (p.Asn461Asp)
 gnomAD v4
6g.35500089T>GCA363778847TULP1c.1387A>C (p.Asn463His)
c.1228A>C (p.Asn410His)
n.563A>C
c.1381A>C (p.Asn461His)
6g.35500089T=CA1620929076TULP1c.1387A= (p.Asn463=)
c.1228A= (p.Asn410=)
n.563A=
c.1381A= (p.Asn461=)
6g.35500090G>ACA3772558TULP1c.1386C>T (p.His462=)
c.1227C>T (p.His409=)
n.562C>T
c.1380C>T (p.His460=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500090G>CCA363778852TULP1c.1386C>G (p.His462Gln)
c.1227C>G (p.His409Gln)
n.562C>G
c.1380C>G (p.His460Gln)
6g.35500090G=CA1620929079TULP1c.1386C= (p.His462=)
c.1227C= (p.His409=)
n.562C=
c.1380C= (p.His460=)
6g.35500090G>TCA363778854TULP1c.1386C>A (p.His462Gln)
c.1227C>A (p.His409Gln)
n.562C>A
c.1380C>A (p.His460Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.35500090dupCA2739272950TULP1c.1386dup (p.Asn463GlnfsTer9)
c.1227dup (p.Asn410GlnfsTer9)
n.562dup
c.1380dup (p.Asn461GlnfsTer9)
 ClinVar
6g.35500091T>ACA363778856TULP1c.1385A>T (p.His462Leu)
c.1226A>T (p.His409Leu)
n.561A>T
c.1379A>T (p.His460Leu)
6g.35500091T>CCA3772559TULP1c.1385A>G (p.His462Arg)
c.1226A>G (p.His409Arg)
n.561A>G
c.1379A>G (p.His460Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500091T>GCA363778858TULP1c.1385A>C (p.His462Pro)
c.1226A>C (p.His409Pro)
n.561A>C
c.1379A>C (p.His460Pro)
6g.35500091T=CA1620929082TULP1c.1385A= (p.His462=)
c.1226A= (p.His409=)
n.561A=
c.1379A= (p.His460=)
6g.35500092G>ACA3772560TULP1c.1384C>T (p.His462Tyr)
c.1225C>T (p.His409Tyr)
n.560C>T
c.1378C>T (p.His460Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500092G>CCA363778861TULP1c.1384C>G (p.His462Asp)
c.1225C>G (p.His409Asp)
n.560C>G
c.1378C>G (p.His460Asp)
6g.35500092G=CA1620929086TULP1c.1384C= (p.His462=)
c.1225C= (p.His409=)
n.560C=
c.1378C= (p.His460=)
6g.35500092G>TCA363778862TULP1c.1384C>A (p.His462Asn)
c.1225C>A (p.His409Asn)
n.560C>A
c.1378C>A (p.His460Asn)
6g.35500093C>ACA449942418TULP1c.1383G>T (p.Leu461=)
c.1224G>T (p.Leu408=)
n.559G>T
c.1377G>T (p.Leu459=)
6g.35500093C>GCA449942420TULP1c.1383G>C (p.Leu461=)
c.1224G>C (p.Leu408=)
n.559G>C
c.1377G>C (p.Leu459=)
6g.35500093C>TCA449942419TULP1c.1383G>A (p.Leu461=)
c.1224G>A (p.Leu408=)
n.559G>A
c.1377G>A (p.Leu459=)
6g.35500094A>CCA363778864TULP1c.1382T>G (p.Leu461Arg)
c.1223T>G (p.Leu408Arg)
n.558T>G
c.1376T>G (p.Leu459Arg)
 gnomAD v4
6g.35500094A>GCA363778865TULP1c.1382T>C (p.Leu461Pro)
c.1223T>C (p.Leu408Pro)
n.558T>C
c.1376T>C (p.Leu459Pro)
 gnomAD v4
6g.35500094A>TCA363778866TULP1c.1382T>A (p.Leu461Gln)
c.1223T>A (p.Leu408Gln)
n.558T>A
c.1376T>A (p.Leu459Gln)
6g.35500095G>ACA449942421TULP1c.1381C>T (p.Leu461=)
c.1222C>T (p.Leu408=)
n.557C>T
c.1375C>T (p.Leu459=)
6g.35500095G>CCA3772561TULP1c.1381C>G (p.Leu461Val)
c.1222C>G (p.Leu408Val)
n.557C>G
c.1375C>G (p.Leu459Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500095G=CA1620929089TULP1c.1381C= (p.Leu461=)
c.1222C= (p.Leu408=)
n.557C=
c.1375C= (p.Leu459=)
6g.35500095G>TCA363778868TULP1c.1381C>A (p.Leu461Met)
c.1222C>A (p.Leu408Met)
n.557C>A
c.1375C>A (p.Leu459Met)
 COSMIC
6g.35500096T>ACA363778871TULP1c.1380A>T (p.Glu460Asp)
c.1221A>T (p.Glu407Asp)
n.556A>T
c.1374A>T (p.Glu458Asp)
6g.35500096T>CCA449942423TULP1c.1380A>G (p.Glu460=)
c.1221A>G (p.Glu407=)
n.556A>G
c.1374A>G (p.Glu458=)
6g.35500096T>GCA363778873TULP1c.1380A>C (p.Glu460Asp)
c.1221A>C (p.Glu407Asp)
n.556A>C
c.1374A>C (p.Glu458Asp)
6g.35500097T>ACA363778874TULP1c.1379A>T (p.Glu460Val)
c.1220A>T (p.Glu407Val)
n.555A>T
c.1373A>T (p.Glu458Val)
6g.35500097T>CCA363778875TULP1c.1379A>G (p.Glu460Gly)
c.1220A>G (p.Glu407Gly)
n.555A>G
c.1373A>G (p.Glu458Gly)
6g.35500097T>GCA363778876TULP1c.1379A>C (p.Glu460Ala)
c.1220A>C (p.Glu407Ala)
n.555A>C
c.1373A>C (p.Glu458Ala)
6g.35500098delCA645563439TULP1c.1378del (p.Glu460AsnfsTer?)
c.1219del (p.Glu407AsnfsTer?)
n.554del
c.1372del (p.Glu458AsnfsTer?)
 COSMIC
6g.35500098C>ACA363778878TULP1c.1378G>T (p.Glu460Ter)
c.1219G>T (p.Glu407Ter)
n.554G>T
c.1372G>T (p.Glu458Ter)
 ClinVar dbSNP
6g.35500098C=CA1620929095TULP1c.1378G= (p.Glu460=)
c.1219G= (p.Glu407=)
n.554G=
c.1372G= (p.Glu458=)
6g.35500098C>GCA3772562TULP1c.1378G>C (p.Glu460Gln)
c.1219G>C (p.Glu407Gln)
n.554G>C
c.1372G>C (p.Glu458Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500098C>TCA363778880TULP1c.1378G>A (p.Glu460Lys)
c.1219G>A (p.Glu407Lys)
n.554G>A
c.1372G>A (p.Glu458Lys)
 ClinVar
6g.35500099T>ACA449942425TULP1c.1377A>T (p.Ile459=)
c.1218A>T (p.Ile406=)
n.553A>T
c.1371A>T (p.Ile457=)
 gnomAD v4
6g.35500099T>CCA363778882TULP1c.1377A>G (p.Ile459Met)
c.1218A>G (p.Ile406Met)
n.553A>G
c.1371A>G (p.Ile457Met)
 gnomAD v4
6g.35500099T>GCA449942426TULP1c.1377A>C (p.Ile459=)
c.1218A>C (p.Ile406=)
n.553A>C
c.1371A>C (p.Ile457=)
6g.35500100_35500101delCA2695206260TULP1c.1376_1377del (p.Ile459ArgfsTer12)
c.1217_1218del (p.Ile406ArgfsTer12)
n.552_553del
c.1370_1371del (p.Ile457ArgfsTer12)
6g.35500100A=CA1620929101TULP1c.1376T= (p.Ile459=)
c.1217T= (p.Ile406=)
n.552T=
c.1370T= (p.Ile457=)
6g.35500100A>CCA363778883TULP1c.1376T>G (p.Ile459Arg)
c.1217T>G (p.Ile406Arg)
n.552T>G
c.1370T>G (p.Ile457Arg)
6g.35500100A>GCA240311TULP1c.1376T>C (p.Ile459Thr)
c.1217T>C (p.Ile406Thr)
n.552T>C
c.1370T>C (p.Ile457Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35500100A>TCA254155TULP1c.1376T>A (p.Ile459Lys)
c.1217T>A (p.Ile406Lys)
n.552T>A
c.1370T>A (p.Ile457Lys)
 ClinVar dbSNP gnomAD v4
6g.35500101T>ACA363778888TULP1c.1375A>T (p.Ile459Leu)
c.1216A>T (p.Ile406Leu)
n.551A>T
c.1369A>T (p.Ile457Leu)
6g.35500101T>CCA363778887TULP1c.1375A>G (p.Ile459Val)
c.1216A>G (p.Ile406Val)
n.551A>G
c.1369A>G (p.Ile457Val)
6g.35500101T>GCA227703TULP1c.1375A>C (p.Ile459Leu)
c.1216A>C (p.Ile406Leu)
n.551A>C
c.1369A>C (p.Ile457Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.35500101T=CA1620929107TULP1c.1375A= (p.Ile459=)
c.1216A= (p.Ile406=)
n.551A=
c.1369A= (p.Ile457=)
6g.35500102G>ACA137278226TULP1c.1374C>T (p.Leu458=)
c.1215C>T (p.Leu405=)
n.550C>T
c.1368C>T (p.Leu456=)
 dbSNP gnomAD v4
6g.35500102G>CCA449942430TULP1c.1374C>G (p.Leu458=)
c.1215C>G (p.Leu405=)
n.550C>G
c.1368C>G (p.Leu456=)
6g.35500102G=CA1620929111TULP1c.1374C= (p.Leu458=)
c.1215C= (p.Leu405=)
n.550C=
c.1368C= (p.Leu456=)
6g.35500102G>TCA449942431TULP1c.1374C>A (p.Leu458=)
c.1215C>A (p.Leu405=)
n.550C>A
c.1368C>A (p.Leu456=)
6g.35500103A>CCA363778889TULP1c.1373T>G (p.Leu458Arg)
c.1214T>G (p.Leu405Arg)
n.549T>G
c.1367T>G (p.Leu456Arg)
6g.35500103A>GCA363778890TULP1c.1373T>C (p.Leu458Pro)
c.1214T>C (p.Leu405Pro)
n.549T>C
c.1367T>C (p.Leu456Pro)
6g.35500103A>TCA363778891TULP1c.1373T>A (p.Leu458His)
c.1214T>A (p.Leu405His)
n.549T>A
c.1367T>A (p.Leu456His)
6g.35500104G>ACA363778892TULP1c.1372C>T (p.Leu458Phe)
c.1213C>T (p.Leu405Phe)
n.548C>T
c.1366C>T (p.Leu456Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35500104G>CCA363778893TULP1c.1372C>G (p.Leu458Val)
c.1213C>G (p.Leu405Val)
n.548C>G
c.1366C>G (p.Leu456Val)
6g.35500104G=CA1620929115TULP1c.1372C= (p.Leu458=)
c.1213C= (p.Leu405=)
n.548C=
c.1366C= (p.Leu456=)
6g.35500104G>TCA363778894TULP1c.1372C>A (p.Leu458Ile)
c.1213C>A (p.Leu405Ile)
n.548C>A
c.1366C>A (p.Leu456Ile)
6g.35500105G>ACA449942432TULP1c.1371C>T (p.Ser457=)
c.1212C>T (p.Ser404=)
n.547C>T
c.1365C>T (p.Ser455=)
6g.35500105G>CCA363778895TULP1c.1371C>G (p.Ser457Arg)
c.1212C>G (p.Ser404Arg)
n.547C>G
c.1365C>G (p.Ser455Arg)
6g.35500105G>TCA363778896TULP1c.1371C>A (p.Ser457Arg)
c.1212C>A (p.Ser404Arg)
n.547C>A
c.1365C>A (p.Ser455Arg)
6g.35500106C>ACA363778897TULP1c.1370G>T (p.Ser457Ile)
c.1211G>T (p.Ser404Ile)
n.546G>T
c.1364G>T (p.Ser455Ile)
 gnomAD v4
6g.35500106C=CA1620929119TULP1c.1370G= (p.Ser457=)
c.1211G= (p.Ser404=)
n.546G=
c.1364G= (p.Ser455=)
6g.35500106C>GCA363778898TULP1c.1370G>C (p.Ser457Thr)
c.1211G>C (p.Ser404Thr)
n.546G>C
c.1364G>C (p.Ser455Thr)
6g.35500106C>TCA363778899TULP1c.1370G>A (p.Ser457Asn)
c.1211G>A (p.Ser404Asn)
n.546G>A
c.1364G>A (p.Ser455Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.35500108_35500118delCA2678413971TULP1c.1360_1370del (p.Thr454ProfsTer14)
c.1201_1211del (p.Thr401ProfsTer14)
n.536_546del
c.1354_1364del (p.Thr452ProfsTer14)
 gnomAD v4
6g.35500107T>ACA363778900TULP1c.1369A>T (p.Ser457Cys)
c.1210A>T (p.Ser404Cys)
n.545A>T
c.1363A>T (p.Ser455Cys)
6g.35500107T>CCA363778901TULP1c.1369A>G (p.Ser457Gly)
c.1210A>G (p.Ser404Gly)
n.545A>G
c.1363A>G (p.Ser455Gly)
6g.35500107T>GCA363778902TULP1c.1369A>C (p.Ser457Arg)
c.1210A>C (p.Ser404Arg)
n.545A>C
c.1363A>C (p.Ser455Arg)
6g.35500108C>ACA363778903TULP1c.1368G>T (p.Glu456Asp)
c.1209G>T (p.Glu403Asp)
n.544G>T
c.1362G>T (p.Glu454Asp)
6g.35500108C=CA1620929125TULP1c.1368G= (p.Glu456=)
c.1209G= (p.Glu403=)
n.544G=
c.1362G= (p.Glu454=)
6g.35500108C>GCA363778904TULP1c.1368G>C (p.Glu456Asp)
c.1209G>C (p.Glu403Asp)
n.544G>C
c.1362G>C (p.Glu454Asp)
6g.35500108C>TCA449942435TULP1c.1368G>A (p.Glu456=)
c.1209G>A (p.Glu403=)
n.544G>A
c.1362G>A (p.Glu454=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35500109T>ACA363778905TULP1c.1367A>T (p.Glu456Val)
c.1208A>T (p.Glu403Val)
n.543A>T
c.1361A>T (p.Glu454Val)
6g.35500109T>CCA363778906TULP1c.1367A>G (p.Glu456Gly)
c.1208A>G (p.Glu403Gly)
n.543A>G
c.1361A>G (p.Glu454Gly)
6g.35500109T>GCA363778907TULP1c.1367A>C (p.Glu456Ala)
c.1208A>C (p.Glu403Ala)
n.543A>C
c.1361A>C (p.Glu454Ala)
6g.35500110C>ACA363778908TULP1c.1366G>T (p.Glu456Ter)
c.1207G>T (p.Glu403Ter)
n.542G>T
c.1360G>T (p.Glu454Ter)
6g.35500110C>GCA363778909TULP1c.1366G>C (p.Glu456Gln)
c.1207G>C (p.Glu403Gln)
n.542G>C
c.1360G>C (p.Glu454Gln)
 gnomAD v4
6g.35500110C>TCA363778910TULP1c.1366G>A (p.Glu456Lys)
c.1207G>A (p.Glu403Lys)
n.542G>A
c.1360G>A (p.Glu454Lys)
 gnomAD v4
6g.35500111C>ACA449942439TULP1c.1365G>T (p.Leu455=)
c.1206G>T (p.Leu402=)
n.541G>T
c.1359G>T (p.Leu453=)
6g.35500111C=CA1620929127TULP1c.1365G= (p.Leu455=)
c.1206G= (p.Leu402=)
n.541G=
c.1359G= (p.Leu453=)
6g.35500111C>GCA449942440TULP1c.1365G>C (p.Leu455=)
c.1206G>C (p.Leu402=)
n.541G>C
c.1359G>C (p.Leu453=)
6g.35500111C>TCA3772563TULP1c.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
6g.35500112A=CA1620929129TULP1c.1364T= (p.Leu455=)
c.1205T= (p.Leu402=)
n.540T=
c.1358T= (p.Leu453=)
6g.35500112A>CCA363778911TULP1c.1364T>G (p.Leu455Arg)
c.1205T>G (p.Leu402Arg)
n.540T>G
c.1358T>G (p.Leu453Arg)
6g.35500112A>GCA363778912TULP1c.1364T>C (p.Leu455Pro)
c.1205T>C (p.Leu402Pro)
n.540T>C
c.1358T>C (p.Leu453Pro)
 dbSNP
6g.35500112A>TCA363778913TULP1c.1364T>A (p.Leu455Gln)
c.1205T>A (p.Leu402Gln)
n.540T>A
c.1358T>A (p.Leu453Gln)
6g.35500113G>ACA449942444TULP1c.1363C>T (p.Leu455=)
c.1204C>T (p.Leu402=)
n.539C>T
c.1357C>T (p.Leu453=)
6g.35500113G>CCA363778914TULP1c.1363C>G (p.Leu455Val)
c.1204C>G (p.Leu402Val)
n.539C>G
c.1357C>G (p.Leu453Val)
6g.35500113G>TCA363778915TULP1c.1363C>A (p.Leu455Met)
c.1204C>A (p.Leu402Met)
n.539C>A
c.1357C>A (p.Leu453Met)
6g.35500114C>ACA449942447TULP1c.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
6g.35500114C=CA1620929133TULP1c.1362G= (p.Thr454=)
c.1203G= (p.Thr401=)
n.538G=
c.1356G= (p.Thr452=)
6g.35500114C>GCA449942446TULP1c.1362G>C (p.Thr454=)
c.1203G>C (p.Thr401=)
n.538G>C
c.1356G>C (p.Thr452=)
6g.35500114C>TCA227701TULP1c.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
6g.35500114_35500116delinsCGTCA1620929135TULP1c.1360_1362delinsACG (p.Thr454=)
c.1201_1203delinsACG (p.Thr401=)
n.536_538delinsACG
c.1354_1356delinsACG (p.Thr452=)
6g.35500115G>ACA3772564TULP1c.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
6g.35500115G>CCA363778916TULP1c.1361C>G (p.Thr454Arg)
c.1202C>G (p.Thr401Arg)
n.537C>G
c.1355C>G (p.Thr452Arg)
6g.35500115G=CA1620929140TULP1c.1361C= (p.Thr454=)
c.1202C= (p.Thr401=)
n.537C=
c.1355C= (p.Thr452=)
6g.35500115G>TCA137278235TULP1c.1361C>A (p.Thr454Lys)
c.1202C>A (p.Thr401Lys)
n.537C>A
c.1355C>A (p.Thr452Lys)
 dbSNP
6g.35500115_35500116delCA1620929138TULP1c.1360_1361del (p.Thr454AlafsTer17)
c.1201_1202del (p.Thr401AlafsTer17)
n.536_537del
c.1354_1355del (p.Thr452AlafsTer17)
 ClinVar dbSNP
6g.35500116T>ACA363778917TULP1c.1360A>T (p.Thr454Ser)
c.1201A>T (p.Thr401Ser)
n.536A>T
c.1354A>T (p.Thr452Ser)
6g.35500116T>CCA363778918TULP1c.1360A>G (p.Thr454Ala)
c.1201A>G (p.Thr401Ala)
n.536A>G
c.1354A>G (p.Thr452Ala)
6g.35500116T>GCA363778919TULP1c.1360A>C (p.Thr454Pro)
c.1201A>C (p.Thr401Pro)
n.536A>C
c.1354A>C (p.Thr452Pro)
6g.35500117C>ACA3772565TULP1c.1359G>T (p.Lys453Asn)
c.1200G>T (p.Lys400Asn)
n.535G>T
c.1353G>T (p.Lys451Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500117C=CA1620929143TULP1c.1359G= (p.Lys453=)
c.1200G= (p.Lys400=)
n.535G=
c.1353G= (p.Lys451=)
6g.35500117C>GCA363778920TULP1c.1359G>C (p.Lys453Asn)
c.1200G>C (p.Lys400Asn)
n.535G>C
c.1353G>C (p.Lys451Asn)
6g.35500117C>TCA449942451TULP1c.1359G>A (p.Lys453=)
c.1200G>A (p.Lys400=)
n.535G>A
c.1353G>A (p.Lys451=)
6g.35500118T>ACA363778921TULP1c.1358A>T (p.Lys453Met)
c.1199A>T (p.Lys400Met)
n.534A>T
c.1352A>T (p.Lys451Met)
6g.35500118T>CCA3772566TULP1c.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
6g.35500118T>GCA363778922TULP1c.1358A>C (p.Lys453Thr)
c.1199A>C (p.Lys400Thr)
n.534A>C
c.1352A>C (p.Lys451Thr)
6g.35500118T=CA1620929148TULP1c.1358A= (p.Lys453=)
c.1199A= (p.Lys400=)
n.534A=
c.1352A= (p.Lys451=)
6g.35500119T>ACA363778923TULP1c.1357A>T (p.Lys453Ter)
c.1198A>T (p.Lys400Ter)
n.533A>T
c.1351A>T (p.Lys451Ter)
6g.35500119T>CCA363778924TULP1c.1357A>G (p.Lys453Glu)
c.1198A>G (p.Lys400Glu)
n.533A>G
c.1351A>G (p.Lys451Glu)
6g.35500119T>GCA363778925TULP1c.1357A>C (p.Lys453Gln)
c.1198A>C (p.Lys400Gln)
n.533A>C
c.1351A>C (p.Lys451Gln)
6g.35500120G>ACA449942455TULP1c.1356C>T (p.Asn452=)
c.1197C>T (p.Asn399=)
n.532C>T
c.1350C>T (p.Asn450=)
 ClinVar dbSNP
6g.35500120G>CCA363778926TULP1c.1356C>G (p.Asn452Lys)
c.1197C>G (p.Asn399Lys)
n.532C>G
c.1350C>G (p.Asn450Lys)
6g.35500120G=CA1620929151TULP1c.1356C= (p.Asn452=)
c.1197C= (p.Asn399=)
n.532C=
c.1350C= (p.Asn450=)
6g.35500120G>TCA363778927TULP1c.1356C>A (p.Asn452Lys)
c.1197C>A (p.Asn399Lys)
n.532C>A
c.1350C>A (p.Asn450Lys)
 dbSNP
6g.35500121T>ACA363778928TULP1c.1355A>T (p.Asn452Ile)
c.1196A>T (p.Asn399Ile)
n.531A>T
c.1349A>T (p.Asn450Ile)
6g.35500121T>CCA363778930TULP1c.1355A>G (p.Asn452Ser)
c.1196A>G (p.Asn399Ser)
n.531A>G
c.1349A>G (p.Asn450Ser)
 dbSNP gnomAD v4
6g.35500121T>GCA363778929TULP1c.1355A>C (p.Asn452Thr)
c.1196A>C (p.Asn399Thr)
n.531A>C
c.1349A>C (p.Asn450Thr)
6g.35500121T=CA1620929153TULP1c.1355A= (p.Asn452=)
c.1196A= (p.Asn399=)
n.531A=
c.1349A= (p.Asn450=)
6g.35500122T>ACA363778931TULP1c.1354A>T (p.Asn452Tyr)
c.1195A>T (p.Asn399Tyr)
n.530A>T
c.1348A>T (p.Asn450Tyr)
6g.35500122T>CCA363778932TULP1c.1354A>G (p.Asn452Asp)
c.1195A>G (p.Asn399Asp)
n.530A>G
c.1348A>G (p.Asn450Asp)
6g.35500122T>GCA363778933TULP1c.1354A>C (p.Asn452His)
c.1195A>C (p.Asn399His)
n.530A>C
c.1348A>C (p.Asn450His)
6g.35500123C>ACA363778934TULP1c.1353G>T (p.Gln451His)
c.1194G>T (p.Gln398His)
n.529G>T
c.1347G>T (p.Gln449His)
6g.35500123C>GCA363778935TULP1c.1353G>C (p.Gln451His)
c.1194G>C (p.Gln398His)
n.529G>C
c.1347G>C (p.Gln449His)
6g.35500123C>TCA449942457TULP1c.1353G>A (p.Gln451=)
c.1194G>A (p.Gln398=)
n.529G>A
c.1347G>A (p.Gln449=)
6g.35500124T>ACA363778936TULP1c.1352A>T (p.Gln451Leu)
c.1193A>T (p.Gln398Leu)
n.528A>T
c.1346A>T (p.Gln449Leu)
6g.35500124T>CCA363778937TULP1c.1352A>G (p.Gln451Arg)
c.1193A>G (p.Gln398Arg)
n.528A>G
c.1346A>G (p.Gln449Arg)
6g.35500124T>GCA363778938TULP1c.1352A>C (p.Gln451Pro)
c.1193A>C (p.Gln398Pro)
n.528A>C
c.1346A>C (p.Gln449Pro)
6g.35500125G>ACA363778939TULP1c.1351C>T (p.Gln451Ter)
c.1192C>T (p.Gln398Ter)
n.527C>T
c.1345C>T (p.Gln449Ter)
 ClinVar dbSNP
6g.35500125G>CCA363778940TULP1c.1351C>G (p.Gln451Glu)
c.1192C>G (p.Gln398Glu)
n.527C>G
c.1345C>G (p.Gln449Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.35500125G=CA1620929157TULP1c.1351C= (p.Gln451=)
c.1192C= (p.Gln398=)
n.527C=
c.1345C= (p.Gln449=)
6g.35500125G>TCA363778941TULP1c.1351C>A (p.Gln451Lys)
c.1192C>A (p.Gln398Lys)
n.527C>A
c.1345C>A (p.Gln449Lys)
6g.35500126C>ACA363778943TULP1c.1350G>T (p.Trp450Cys)
c.1191G>T (p.Trp397Cys)
n.526G>T
c.1344G>T (p.Trp448Cys)
6g.35500126C>GCA363778944TULP1c.1350G>C (p.Trp450Cys)
c.1191G>C (p.Trp397Cys)
n.526G>C
c.1344G>C (p.Trp448Cys)
6g.35500126C>TCA363778942TULP1c.1350G>A (p.Trp450Ter)
c.1191G>A (p.Trp397Ter)
n.526G>A
c.1344G>A (p.Trp448Ter)
6g.35500127C>ACA363778946TULP1c.1349G>T (p.Trp450Leu)
c.1190G>T (p.Trp397Leu)
n.525G>T
c.1343G>T (p.Trp448Leu)
6g.35500127C=CA1620929161TULP1c.1349G= (p.Trp450=)
c.1190G= (p.Trp397=)
n.525G=
c.1343G= (p.Trp448=)
6g.35500127C>GCA363778945TULP1c.1349G>C (p.Trp450Ser)
c.1190G>C (p.Trp397Ser)
n.525G>C
c.1343G>C (p.Trp448Ser)
6g.35500127C>TCA363778947TULP1c.1349G>A (p.Trp450Ter)
c.1190G>A (p.Trp397Ter)
n.525G>A
c.1343G>A (p.Trp448Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.35500128A>CCA363778948TULP1c.1348T>G (p.Trp450Gly)
c.1189T>G (p.Trp397Gly)
n.524T>G
c.1342T>G (p.Trp448Gly)
6g.35500128A>GCA363778950TULP1c.1348T>C (p.Trp450Arg)
c.1189T>C (p.Trp397Arg)
n.524T>C
c.1342T>C (p.Trp448Arg)
6g.35500128A>TCA363778949TULP1c.1348T>A (p.Trp450Arg)
c.1189T>A (p.Trp397Arg)
n.524T>A
c.1342T>A (p.Trp448Arg)
6g.35500129G>ACA449942463TULP1c.1347C>T (p.Arg449=)
c.1188C>T (p.Arg396=)
n.523C>T
c.1341C>T (p.Arg447=)
 COSMIC
6g.35500129G>CCA449942464TULP1c.1347C>G (p.Arg449=)
c.1188C>G (p.Arg396=)
n.523C>G
c.1341C>G (p.Arg447=)
6g.35500129G>TCA449942466TULP1c.1347C>A (p.Arg449=)
c.1188C>A (p.Arg396=)
n.523C>A
c.1341C>A (p.Arg447=)
6g.35500130C>ACA363778951TULP1c.1346G>T (p.Arg449Leu)
c.1187G>T (p.Arg396Leu)
n.522G>T
c.1340G>T (p.Arg447Leu)
6g.35500130C=CA1620929165TULP1c.1346G= (p.Arg449=)
c.1187G= (p.Arg396=)
n.522G=
c.1340G= (p.Arg447=)
6g.35500130C>GCA363778953TULP1c.1346G>C (p.Arg449Pro)
c.1187G>C (p.Arg396Pro)
n.522G>C
c.1340G>C (p.Arg447Pro)
6g.35500130C>TCA363778952TULP1c.1346G>A (p.Arg449His)
c.1187G>A (p.Arg396His)
n.522G>A
c.1340G>A (p.Arg447His)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.35500131G>ACA363778954TULP1c.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
6g.35500131G>CCA363778955TULP1c.1345C>G (p.Arg449Gly)
c.1186C>G (p.Arg396Gly)
n.521C>G
c.1339C>G (p.Arg447Gly)
 gnomAD v4
6g.35500131G=CA1620929172TULP1c.1345C= (p.Arg449=)
c.1186C= (p.Arg396=)
n.521C=
c.1339C= (p.Arg447=)
6g.35500131G>TCA363778956TULP1c.1345C>A (p.Arg449Ser)
c.1186C>A (p.Arg396Ser)
n.521C>A
c.1339C>A (p.Arg447Ser)
 dbSNP COSMIC
6g.35500132C>ACA449942470TULP1c.1344G>T (p.Val448=)
c.1185G>T (p.Val395=)
n.520G>T
c.1338G>T (p.Val446=)
6g.35500132C=CA1620929178TULP1c.1344G= (p.Val448=)
c.1185G= (p.Val395=)
n.520G=
c.1338G= (p.Val446=)
6g.35500132C>GCA449942471TULP1c.1344G>C (p.Val448=)
c.1185G>C (p.Val395=)
n.520G>C
c.1338G>C (p.Val446=)
6g.35500132C>TCA3772567TULP1c.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
6g.35500135_35500148delCA2770629820TULP1c.1331_1344del (p.Asp444AlafsTer23)
c.1172_1185del (p.Asp391AlafsTer23)
n.507_520del
c.1325_1338del (p.Asp442AlafsTer23)
6g.35500133A>CCA363778957TULP1c.1343T>G (p.Val448Gly)
c.1184T>G (p.Val395Gly)
n.519T>G
c.1337T>G (p.Val446Gly)
6g.35500133A>GCA363778958TULP1c.1343T>C (p.Val448Ala)
c.1184T>C (p.Val395Ala)
n.519T>C
c.1337T>C (p.Val446Ala)
6g.35500133A>TCA363778959TULP1c.1343T>A (p.Val448Glu)
c.1184T>A (p.Val395Glu)
n.519T>A
c.1337T>A (p.Val446Glu)
6g.35500134C>ACA363778960TULP1c.1342G>T (p.Val448Leu)
c.1183G>T (p.Val395Leu)
n.518G>T
c.1336G>T (p.Val446Leu)
6g.35500134C>GCA363778961TULP1c.1342G>C (p.Val448Leu)
c.1183G>C (p.Val395Leu)
n.518G>C
c.1336G>C (p.Val446Leu)
6g.35500134C>TCA363778962TULP1c.1342G>A (p.Val448Met)
c.1183G>A (p.Val395Met)
n.518G>A
c.1336G>A (p.Val446Met)
 ClinVar gnomAD v4
6g.35500135C>ACA449942472TULP1c.1341G>T (p.Leu447=)
c.1182G>T (p.Leu394=)
n.517G>T
c.1335G>T (p.Leu445=)
6g.35500135C=CA1620929185TULP1c.1341G= (p.Leu447=)
c.1182G= (p.Leu394=)
n.517G=
c.1335G= (p.Leu445=)
6g.35500135C>GCA449942474TULP1c.1341G>C (p.Leu447=)
c.1182G>C (p.Leu394=)
n.517G>C
c.1335G>C (p.Leu445=)
6g.35500135C>TCA3772568TULP1c.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
6g.35500136A>CCA363778965TULP1c.1340T>G (p.Leu447Arg)
c.1181T>G (p.Leu394Arg)
n.516T>G
c.1334T>G (p.Leu445Arg)
6g.35500136A>GCA363778963TULP1c.1340T>C (p.Leu447Pro)
c.1181T>C (p.Leu394Pro)
n.516T>C
c.1334T>C (p.Leu445Pro)
6g.35500136A>TCA363778964TULP1c.1340T>A (p.Leu447Gln)
c.1181T>A (p.Leu394Gln)
n.516T>A
c.1334T>A (p.Leu445Gln)
6g.35500137G>ACA449942476TULP1c.1339C>T (p.Leu447=)
c.1180C>T (p.Leu394=)
n.515C>T
c.1333C>T (p.Leu445=)
6g.35500137G>CCA363778966TULP1c.1339C>G (p.Leu447Val)
c.1180C>G (p.Leu394Val)
n.515C>G
c.1333C>G (p.Leu445Val)
6g.35500137G>TCA363778967TULP1c.1339C>A (p.Leu447Met)
c.1180C>A (p.Leu394Met)
n.515C>A
c.1333C>A (p.Leu445Met)
6g.35500138C>ACA449942477TULP1c.1338G>T (p.Leu446=)
c.1179G>T (p.Leu393=)
n.514G>T
c.1332G>T (p.Leu444=)
6g.35500138C>GCA449942478TULP1c.1338G>C (p.Leu446=)
c.1179G>C (p.Leu393=)
n.514G>C
c.1332G>C (p.Leu444=)
6g.35500138C>TCA449942479TULP1c.1338G>A (p.Leu446=)
c.1179G>A (p.Leu393=)
n.514G>A
c.1332G>A (p.Leu444=)
 gnomAD v4
6g.35500139A>CCA363778968TULP1c.1337T>G (p.Leu446Arg)
c.1178T>G (p.Leu393Arg)
n.513T>G
c.1331T>G (p.Leu444Arg)
6g.35500139A>GCA363778969TULP1c.1337T>C (p.Leu446Pro)
c.1178T>C (p.Leu393Pro)
n.513T>C
c.1331T>C (p.Leu444Pro)
6g.35500139A>TCA363778970TULP1c.1337T>A (p.Leu446Gln)
c.1178T>A (p.Leu393Gln)
n.513T>A
c.1331T>A (p.Leu444Gln)
6g.35500140G>ACA449942480TULP1c.1336C>T (p.Leu446=)
c.1177C>T (p.Leu393=)
n.512C>T
c.1330C>T (p.Leu444=)
6g.35500140G>CCA363778971TULP1c.1336C>G (p.Leu446Val)
c.1177C>G (p.Leu393Val)
n.512C>G
c.1330C>G (p.Leu444Val)
 gnomAD v4
6g.35500140G>TCA363778972TULP1c.1336C>A (p.Leu446Met)
c.1177C>A (p.Leu393Met)
n.512C>A
c.1330C>A (p.Leu444Met)
6g.35500141G>ACA449942481TULP1c.1335C>T (p.Gly445=)
c.1176C>T (p.Gly392=)
n.511C>T
c.1329C>T (p.Gly443=)
6g.35500141G>CCA449942483TULP1c.1335C>G (p.Gly445=)
c.1176C>G (p.Gly392=)
n.511C>G
c.1329C>G (p.Gly443=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.35500141G=CA1620929193TULP1c.1335C= (p.Gly445=)
c.1176C= (p.Gly392=)
n.511C=
c.1329C= (p.Gly443=)
6g.35500141G>TCA449942485TULP1c.1335C>A (p.Gly445=)
c.1176C>A (p.Gly392=)
n.511C>A
c.1329C>A (p.Gly443=)
6g.35500142C>ACA363778973TULP1c.1334G>T (p.Gly445Val)
c.1175G>T (p.Gly392Val)
n.510G>T
c.1328G>T (p.Gly443Val)
6g.35500142C=CA1620929197TULP1c.1334G= (p.Gly445=)
c.1175G= (p.Gly392=)
n.510G=
c.1328G= (p.Gly443=)
6g.35500142C>GCA363778974TULP1c.1334G>C (p.Gly445Ala)
c.1175G>C (p.Gly392Ala)
n.510G>C
c.1328G>C (p.Gly443Ala)
 gnomAD v4
6g.35500142C>TCA3772569TULP1c.1334G>A (p.Gly445Asp)
c.1175G>A (p.Gly392Asp)
n.510G>A
c.1328G>A (p.Gly443Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35500143C>ACA363778976TULP1c.1333G>T (p.Gly445Cys)
c.1174G>T (p.Gly392Cys)
n.509G>T
c.1327G>T (p.Gly443Cys)
 gnomAD v4
6g.35500143C=CA1620929202TULP1c.1333G= (p.Gly445=)
c.1174G= (p.Gly392=)
n.509G=
c.1327G= (p.Gly443=)
6g.35500143C>GCA363778975TULP1c.1333G>C (p.Gly445Arg)
c.1174G>C (p.Gly392Arg)
n.509G>C
c.1327G>C (p.Gly443Arg)
6g.35500143C>TCA3772570TULP1c.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
6g.35500143_35500144delCA2578594526TULP1c.1332_1333del (p.Asp444GlufsTer27)
c.1173_1174del (p.Asp391GlufsTer27)
n.508_509del
c.1326_1327del (p.Asp442GlufsTer27)
6g.35500144G>ACA3772571TULP1c.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
6g.35500144G>CCA137278262TULP1c.1332C>G (p.Asp444Glu)
c.1173C>G (p.Asp391Glu)
n.508C>G
c.1326C>G (p.Asp442Glu)
 dbSNP gnomAD v4
6g.35500144G=CA1620929208TULP1c.1332C= (p.Asp444=)
c.1173C= (p.Asp391=)
n.508C=
c.1326C= (p.Asp442=)
6g.35500144G>TCA363778977TULP1c.1332C>A (p.Asp444Glu)
c.1173C>A (p.Asp391Glu)
n.508C>A
c.1326C>A (p.Asp442Glu)

Number of alleles fetched