Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.93830154_93830545delCA212589GPC6,GPC6-AS2c.320_711del
n.380+273_380+664del
c.110_501del
c.-47_345del
13g.93830154A>CCA388465044GPC6,GPC6-AS2c.320A>C (p.Glu107Ala)
n.380+662T>G
c.110A>C (p.Glu37Ala)
c.-47A>C (n.-47A>C)
13g.93830154A>GCA388465046GPC6,GPC6-AS2c.320A>G (p.Glu107Gly)
n.380+662T>C
c.110A>G (p.Glu37Gly)
c.-47A>G (n.-47A>G)
13g.93830154A>TCA388465045GPC6,GPC6-AS2c.320A>T (p.Glu107Val)
n.380+662T>A
c.110A>T (p.Glu37Val)
c.-47A>T (n.-47A>T)
13g.93830155A>CCA388465047GPC6,GPC6-AS2c.321A>C (p.Glu107Asp)
n.380+661T>G
c.111A>C (p.Glu37Asp)
c.-46A>C (n.-46A>C)
13g.93830155A>GCA484614560GPC6,GPC6-AS2c.321A>G (p.Glu107=)
n.380+661T>C
c.111A>G (p.Glu37=)
c.-46A>G (n.-46A>G)
13g.93830155A>TCA388465048GPC6,GPC6-AS2c.321A>T (p.Glu107Asp)
n.380+661T>A
c.111A>T (p.Glu37Asp)
c.-46A>T (n.-46A>T)
 gnomAD v4
13g.93830156T>ACA388465049GPC6,GPC6-AS2c.322T>A (p.Phe108Ile)
n.380+660A>T
c.112T>A (p.Phe38Ile)
c.-45T>A (n.-45T>A)
13g.93830156T>CCA388465050GPC6,GPC6-AS2c.322T>C (p.Phe108Leu)
n.380+660A>G
c.112T>C (p.Phe38Leu)
c.-45T>C (n.-45T>C)
 gnomAD v4
13g.93830156T>GCA7016843GPC6,GPC6-AS2c.322T>G (p.Phe108Val)
n.380+660A>C
c.112T>G (p.Phe38Val)
c.-45T>G (n.-45T>G)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
13g.93830156T=CA2111540642GPC6,GPC6-AS2c.322T= (p.Phe108=)
n.380+660A=
c.112T= (p.Phe38=)
c.-45T= (n.-45T=)
13g.93830160delCA2623380629GPC6,GPC6-AS2c.326del (p.Phe109SerfsTer12)
n.380+660del
c.116del (p.Phe39SerfsTer12)
c.-41del (n.-41del)
 gnomAD v4
13g.93830157T>ACA388465051GPC6,GPC6-AS2c.323T>A (p.Phe108Tyr)
n.380+659A>T
c.113T>A (p.Phe38Tyr)
c.-44T>A (n.-44T>A)
13g.93830157T>CCA388465052GPC6,GPC6-AS2c.323T>C (p.Phe108Ser)
n.380+659A>G
c.113T>C (p.Phe38Ser)
c.-44T>C (n.-44T>C)
13g.93830157T>GCA388465053GPC6,GPC6-AS2c.323T>G (p.Phe108Cys)
n.380+659A>C
c.113T>G (p.Phe38Cys)
c.-44T>G (n.-44T>G)
13g.93830158T>ACA388465054GPC6,GPC6-AS2c.324T>A (p.Phe108Leu)
n.380+658A>T
c.114T>A (p.Phe38Leu)
c.-43T>A (n.-43T>A)
13g.93830158T>CCA484614572GPC6,GPC6-AS2c.324T>C (p.Phe108=)
n.380+658A>G
c.114T>C (p.Phe38=)
c.-43T>C (n.-43T>C)
13g.93830158T>GCA388465055GPC6,GPC6-AS2c.324T>G (p.Phe108Leu)
n.380+658A>C
c.114T>G (p.Phe38Leu)
c.-43T>G (n.-43T>G)
13g.93830159T>ACA388465058GPC6,GPC6-AS2c.325T>A (p.Phe109Ile)
n.380+657A>T
c.115T>A (p.Phe39Ile)
c.-42T>A (n.-42T>A)
13g.93830159T>CCA388465057GPC6,GPC6-AS2c.325T>C (p.Phe109Leu)
n.380+657A>G
c.115T>C (p.Phe39Leu)
c.-42T>C (n.-42T>C)
13g.93830159T>GCA388465056GPC6,GPC6-AS2c.325T>G (p.Phe109Val)
n.380+657A>C
c.115T>G (p.Phe39Val)
c.-42T>G (n.-42T>G)
13g.93830160T>ACA388465059GPC6,GPC6-AS2c.326T>A (p.Phe109Tyr)
n.380+656A>T
c.116T>A (p.Phe39Tyr)
c.-41T>A (n.-41T>A)
13g.93830160T>CCA388465061GPC6,GPC6-AS2c.326T>C (p.Phe109Ser)
n.380+656A>G
c.116T>C (p.Phe39Ser)
c.-41T>C (n.-41T>C)
 COSMIC
13g.93830160T>GCA388465060GPC6,GPC6-AS2c.326T>G (p.Phe109Cys)
n.380+656A>C
c.116T>G (p.Phe39Cys)
c.-41T>G (n.-41T>G)
13g.93830161C>ACA388465062GPC6,GPC6-AS2c.327C>A (p.Phe109Leu)
n.380+655G>T
c.117C>A (p.Phe39Leu)
c.-40C>A (n.-40C>A)
13g.93830161C=CA2111540645GPC6,GPC6-AS2c.327C= (p.Phe109=)
n.380+655G=
c.117C= (p.Phe39=)
c.-40C= (n.-40C=)
13g.93830161C>GCA388465063GPC6,GPC6-AS2c.327C>G (p.Phe109Leu)
n.380+655G>C
c.117C>G (p.Phe39Leu)
c.-40C>G (n.-40C>G)
 dbSNP gnomAD v4
13g.93830161C>TCA484614606GPC6,GPC6-AS2c.327C>T (p.Phe109=)
n.380+655G>A
c.117C>T (p.Phe39=)
c.-40C>T (n.-40C>T)
13g.93830162C>ACA484614607GPC6,GPC6-AS2c.328C>A (p.Arg110=)
n.380+654G>T
c.118C>A (p.Arg40=)
c.-39C>A (n.-39C>A)
 dbSNP gnomAD v4
13g.93830162C=CA2111540651GPC6,GPC6-AS2c.328C= (p.Arg110=)
n.380+654G=
c.118C= (p.Arg40=)
c.-39C= (n.-39C=)
13g.93830162C>GCA388465064GPC6,GPC6-AS2c.328C>G (p.Arg110Gly)
n.380+654G>C
c.118C>G (p.Arg40Gly)
c.-39C>G (n.-39C>G)
13g.93830162C>TCA7016844GPC6,GPC6-AS2c.328C>T (p.Arg110Ter)
n.380+654G>A
c.118C>T (p.Arg40Ter)
c.-39C>T (n.-39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.93830163G>ACA7016845GPC6,GPC6-AS2c.329G>A (p.Arg110Gln)
n.380+653C>T
c.119G>A (p.Arg40Gln)
c.-38G>A (n.-38G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830163G>CCA388465067GPC6,GPC6-AS2c.329G>C (p.Arg110Pro)
n.380+653C>G
c.119G>C (p.Arg40Pro)
c.-38G>C (n.-38G>C)
13g.93830163G=CA2111540656GPC6,GPC6-AS2c.329G= (p.Arg110=)
n.380+653C=
c.119G= (p.Arg40=)
c.-38G= (n.-38G=)
13g.93830163G>TCA388465066GPC6,GPC6-AS2c.329G>T (p.Arg110Leu)
n.380+653C>A
c.119G>T (p.Arg40Leu)
c.-38G>T (n.-38G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830164A>CCA484614613GPC6,GPC6-AS2c.330A>C (p.Arg110=)
n.380+652T>G
c.120A>C (p.Arg40=)
c.-37A>C (n.-37A>C)
13g.93830164A>GCA484614616GPC6,GPC6-AS2c.330A>G (p.Arg110=)
n.380+652T>C
c.120A>G (p.Arg40=)
c.-37A>G (n.-37A>G)
13g.93830164A>TCA484614615GPC6,GPC6-AS2c.330A>T (p.Arg110=)
n.380+652T>A
c.120A>T (p.Arg40=)
c.-37A>T (n.-37A>T)
13g.93830165G>ACA388465068GPC6,GPC6-AS2c.331G>A (p.Glu111Lys)
n.380+651C>T
c.121G>A (p.Glu41Lys)
c.-36G>A (n.-36G>A)
 ClinVar
13g.93830165G>CCA388465069GPC6,GPC6-AS2c.331G>C (p.Glu111Gln)
n.380+651C>G
c.121G>C (p.Glu41Gln)
c.-36G>C (n.-36G>C)
13g.93830165G>TCA388465070GPC6,GPC6-AS2c.331G>T (p.Glu111Ter)
n.380+651C>A
c.121G>T (p.Glu41Ter)
c.-36G>T (n.-36G>T)
13g.93830166A>CCA388465071GPC6,GPC6-AS2c.332A>C (p.Glu111Ala)
n.380+650T>G
c.122A>C (p.Glu41Ala)
c.-35A>C (n.-35A>C)
13g.93830166A>GCA388465072GPC6,GPC6-AS2c.332A>G (p.Glu111Gly)
n.380+650T>C
c.122A>G (p.Glu41Gly)
c.-35A>G (n.-35A>G)
13g.93830166A>TCA388465073GPC6,GPC6-AS2c.332A>T (p.Glu111Val)
n.380+650T>A
c.122A>T (p.Glu41Val)
c.-35A>T (n.-35A>T)
13g.93830167G>ACA484614625GPC6,GPC6-AS2c.333G>A (p.Glu111=)
n.380+649C>T
c.123G>A (p.Glu41=)
c.-34G>A (n.-34G>A)
 dbSNP gnomAD v2 gnomAD v4
13g.93830167G>CCA388465074GPC6,GPC6-AS2c.333G>C (p.Glu111Asp)
n.380+649C>G
c.123G>C (p.Glu41Asp)
c.-34G>C (n.-34G>C)
13g.93830167G=CA2111540660GPC6,GPC6-AS2c.333G= (p.Glu111=)
n.380+649C=
c.123G= (p.Glu41=)
c.-34G= (n.-34G=)
13g.93830167G>TCA255001044GPC6,GPC6-AS2c.333G>T (p.Glu111Asp)
n.380+649C>A
c.123G>T (p.Glu41Asp)
c.-34G>T (n.-34G>T)
 dbSNP
13g.93830168C>ACA388465075GPC6,GPC6-AS2c.334C>A (p.Leu112Ile)
n.380+648G>T
c.124C>A (p.Leu42Ile)
c.-33C>A (n.-33C>A)
13g.93830168C=CA2111540664GPC6,GPC6-AS2c.334C= (p.Leu112=)
n.380+648G=
c.124C= (p.Leu42=)
c.-33C= (n.-33C=)
13g.93830168C>GCA7016846GPC6,GPC6-AS2c.334C>G (p.Leu112Val)
n.380+648G>C
c.124C>G (p.Leu42Val)
c.-33C>G (n.-33C>G)
 dbSNP ExAC gnomAD v2
13g.93830168C>TCA388465076GPC6,GPC6-AS2c.334C>T (p.Leu112Phe)
n.380+648G>A
c.124C>T (p.Leu42Phe)
c.-33C>T (n.-33C>T)
 ClinVar gnomAD v4
13g.93830169T>ACA388465079GPC6,GPC6-AS2c.335T>A (p.Leu112His)
n.380+647A>T
c.125T>A (p.Leu42His)
c.-32T>A (n.-32T>A)
13g.93830169T>CCA388465078GPC6,GPC6-AS2c.335T>C (p.Leu112Pro)
n.380+647A>G
c.125T>C (p.Leu42Pro)
c.-32T>C (n.-32T>C)
13g.93830169T>GCA388465077GPC6,GPC6-AS2c.335T>G (p.Leu112Arg)
n.380+647A>C
c.125T>G (p.Leu42Arg)
c.-32T>G (n.-32T>G)
13g.93830170C>ACA484614648GPC6,GPC6-AS2c.336C>A (p.Leu112=)
n.380+646G>T
c.126C>A (p.Leu42=)
c.-31C>A (n.-31C>A)
13g.93830170C>GCA484614667GPC6,GPC6-AS2c.336C>G (p.Leu112=)
n.380+646G>C
c.126C>G (p.Leu42=)
c.-31C>G (n.-31C>G)
13g.93830170C>TCA484614669GPC6,GPC6-AS2c.336C>T (p.Leu112=)
n.380+646G>A
c.126C>T (p.Leu42=)
c.-31C>T (n.-31C>T)
13g.93830171C>ACA388465080GPC6,GPC6-AS2c.337C>A (p.Leu113Met)
n.380+645G>T
c.127C>A (p.Leu43Met)
c.-30C>A (n.-30C>A)
13g.93830171C>GCA388465081GPC6,GPC6-AS2c.337C>G (p.Leu113Val)
n.380+645G>C
c.127C>G (p.Leu43Val)
c.-30C>G (n.-30C>G)
13g.93830171C>TCA484614672GPC6,GPC6-AS2c.337C>T (p.Leu113=)
n.380+645G>A
c.127C>T (p.Leu43=)
c.-30C>T (n.-30C>T)
13g.93830172T>ACA388465082GPC6,GPC6-AS2c.338T>A (p.Leu113Gln)
n.380+644A>T
c.128T>A (p.Leu43Gln)
c.-29T>A (n.-29T>A)
13g.93830172T>CCA255001045GPC6,GPC6-AS2c.338T>C (p.Leu113Pro)
n.380+644A>G
c.128T>C (p.Leu43Pro)
c.-29T>C (n.-29T>C)
 dbSNP
13g.93830172T>GCA388465083GPC6,GPC6-AS2c.338T>G (p.Leu113Arg)
n.380+644A>C
c.128T>G (p.Leu43Arg)
c.-29T>G (n.-29T>G)
13g.93830172T=CA2111540669GPC6,GPC6-AS2c.338T= (p.Leu113=)
n.380+644A=
c.128T= (p.Leu43=)
c.-29T= (n.-29T=)
13g.93830173G>ACA484614688GPC6,GPC6-AS2c.339G>A (p.Leu113=)
n.380+643C>T
c.129G>A (p.Leu43=)
c.-28G>A (n.-28G>A)
13g.93830173G>CCA484614679GPC6,GPC6-AS2c.339G>C (p.Leu113=)
n.380+643C>G
c.129G>C (p.Leu43=)
c.-28G>C (n.-28G>C)
13g.93830173G>TCA484614686GPC6,GPC6-AS2c.339G>T (p.Leu113=)
n.380+643C>A
c.129G>T (p.Leu43=)
c.-28G>T (n.-28G>T)
13g.93830174G>ACA388465084GPC6,GPC6-AS2c.340G>A (p.Glu114Lys)
n.380+642C>T
c.130G>A (p.Glu44Lys)
c.-27G>A (n.-27G>A)
 dbSNP gnomAD v4
13g.93830174G>CCA388465085GPC6,GPC6-AS2c.340G>C (p.Glu114Gln)
n.380+642C>G
c.130G>C (p.Glu44Gln)
c.-27G>C (n.-27G>C)
13g.93830174G=CA2111540675GPC6,GPC6-AS2c.340G= (p.Glu114=)
n.380+642C=
c.130G= (p.Glu44=)
c.-27G= (n.-27G=)
13g.93830174G>TCA388465086GPC6,GPC6-AS2c.340G>T (p.Glu114Ter)
n.380+642C>A
c.130G>T (p.Glu44Ter)
c.-27G>T (n.-27G>T)
13g.93830175A=CA2111540687GPC6,GPC6-AS2c.341A= (p.Glu114=)
n.380+641T=
c.131A= (p.Glu44=)
c.-26A= (n.-26A=)
13g.93830175A>CCA388465087GPC6,GPC6-AS2c.341A>C (p.Glu114Ala)
n.380+641T>G
c.131A>C (p.Glu44Ala)
c.-26A>C (n.-26A>C)
13g.93830175A>GCA7016847GPC6,GPC6-AS2c.341A>G (p.Glu114Gly)
n.380+641T>C
c.131A>G (p.Glu44Gly)
c.-26A>G (n.-26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830175A>TCA388465088GPC6,GPC6-AS2c.341A>T (p.Glu114Val)
n.380+641T>A
c.131A>T (p.Glu44Val)
c.-26A>T (n.-26A>T)
13g.93830176G>ACA7016848GPC6,GPC6-AS2c.342G>A (p.Glu114=)
n.380+640C>T
c.132G>A (p.Glu44=)
c.-25G>A (n.-25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830176G>CCA388465090GPC6,GPC6-AS2c.342G>C (p.Glu114Asp)
n.380+640C>G
c.132G>C (p.Glu44Asp)
c.-25G>C (n.-25G>C)
13g.93830176G=CA2111540695GPC6,GPC6-AS2c.342G= (p.Glu114=)
n.380+640C=
c.132G= (p.Glu44=)
c.-25G= (n.-25G=)
13g.93830176G>TCA388465089GPC6,GPC6-AS2c.342G>T (p.Glu114Asp)
n.380+640C>A
c.132G>T (p.Glu44Asp)
c.-25G>T (n.-25G>T)
 dbSNP
13g.93830177A>CCA388465091GPC6,GPC6-AS2c.343A>C (p.Asn115His)
n.380+639T>G
c.133A>C (p.Asn45His)
c.-24A>C (n.-24A>C)
13g.93830177A>GCA388465092GPC6,GPC6-AS2c.343A>G (p.Asn115Asp)
n.380+639T>C
c.133A>G (p.Asn45Asp)
c.-24A>G (n.-24A>G)
13g.93830177A>TCA388465093GPC6,GPC6-AS2c.343A>T (p.Asn115Tyr)
n.380+639T>A
c.133A>T (p.Asn45Tyr)
c.-24A>T (n.-24A>T)
13g.93830178A>CCA388465094GPC6,GPC6-AS2c.344A>C (p.Asn115Thr)
n.380+638T>G
c.134A>C (p.Asn45Thr)
c.-23A>C (n.-23A>C)
13g.93830178A>GCA388465095GPC6,GPC6-AS2c.344A>G (p.Asn115Ser)
n.380+638T>C
c.134A>G (p.Asn45Ser)
c.-23A>G (n.-23A>G)
13g.93830178A>TCA388465096GPC6,GPC6-AS2c.344A>T (p.Asn115Ile)
n.380+638T>A
c.134A>T (p.Asn45Ile)
c.-23A>T (n.-23A>T)
13g.93830179T>ACA388465098GPC6,GPC6-AS2c.345T>A (p.Asn115Lys)
n.380+637A>T
c.135T>A (p.Asn45Lys)
c.-22T>A (n.-22T>A)
13g.93830179T>CCA484614709GPC6,GPC6-AS2c.345T>C (p.Asn115=)
n.380+637A>G
c.135T>C (p.Asn45=)
c.-22T>C (n.-22T>C)
 gnomAD v4
13g.93830179T>GCA388465097GPC6,GPC6-AS2c.345T>G (p.Asn115Lys)
n.380+637A>C
c.135T>G (p.Asn45Lys)
c.-22T>G (n.-22T>G)
13g.93830180G>ACA388465099GPC6,GPC6-AS2c.346G>A (p.Ala116Thr)
n.380+636C>T
c.136G>A (p.Ala46Thr)
c.-21G>A (n.-21G>A)
 gnomAD v4
13g.93830180G>CCA388465100GPC6,GPC6-AS2c.346G>C (p.Ala116Pro)
n.380+636C>G
c.136G>C (p.Ala46Pro)
c.-21G>C (n.-21G>C)
13g.93830180G>TCA388465101GPC6,GPC6-AS2c.346G>T (p.Ala116Ser)
n.380+636C>A
c.136G>T (p.Ala46Ser)
c.-21G>T (n.-21G>T)
13g.93830181C>ACA388465102GPC6,GPC6-AS2c.347C>A (p.Ala116Glu)
n.380+635G>T
c.137C>A (p.Ala46Glu)
c.-20C>A (n.-20C>A)
 gnomAD v4
13g.93830181C>GCA388465103GPC6,GPC6-AS2c.347C>G (p.Ala116Gly)
n.380+635G>C
c.137C>G (p.Ala46Gly)
c.-20C>G (n.-20C>G)
13g.93830181C>TCA388465104GPC6,GPC6-AS2c.347C>T (p.Ala116Val)
n.380+635G>A
c.137C>T (p.Ala46Val)
c.-20C>T (n.-20C>T)
13g.93830182A=CA2111540703GPC6,GPC6-AS2c.348A= (p.Ala116=)
n.380+634T=
c.138A= (p.Ala46=)
c.-19A= (n.-19A=)
13g.93830182A>CCA484614721GPC6,GPC6-AS2c.348A>C (p.Ala116=)
n.380+634T>G
c.138A>C (p.Ala46=)
c.-19A>C (n.-19A>C)
 dbSNP
13g.93830182A>GCA484614723GPC6,GPC6-AS2c.348A>G (p.Ala116=)
n.380+634T>C
c.138A>G (p.Ala46=)
c.-19A>G (n.-19A>G)
13g.93830182A>TCA484614725GPC6,GPC6-AS2c.348A>T (p.Ala116=)
n.380+634T>A
c.138A>T (p.Ala46=)
c.-19A>T (n.-19A>T)
13g.93830183G>ACA388465105GPC6,GPC6-AS2c.349G>A (p.Glu117Lys)
n.380+633C>T
c.139G>A (p.Glu47Lys)
c.-18G>A (n.-18G>A)
13g.93830183G>CCA388465107GPC6,GPC6-AS2c.349G>C (p.Glu117Gln)
n.380+633C>G
c.139G>C (p.Glu47Gln)
c.-18G>C (n.-18G>C)
13g.93830183G>TCA388465106GPC6,GPC6-AS2c.349G>T (p.Glu117Ter)
n.380+633C>A
c.139G>T (p.Glu47Ter)
c.-18G>T (n.-18G>T)
13g.93830184A>CCA388465108GPC6,GPC6-AS2c.350A>C (p.Glu117Ala)
n.380+632T>G
c.140A>C (p.Glu47Ala)
c.-17A>C (n.-17A>C)
13g.93830184A>GCA388465109GPC6,GPC6-AS2c.350A>G (p.Glu117Gly)
n.380+632T>C
c.140A>G (p.Glu47Gly)
c.-17A>G (n.-17A>G)
13g.93830184A>TCA388465110GPC6,GPC6-AS2c.350A>T (p.Glu117Val)
n.380+632T>A
c.140A>T (p.Glu47Val)
c.-17A>T (n.-17A>T)
13g.93830185A>CCA388465111GPC6,GPC6-AS2c.351A>C (p.Glu117Asp)
n.380+631T>G
c.141A>C (p.Glu47Asp)
c.-16A>C (n.-16A>C)
13g.93830185A>GCA484614738GPC6,GPC6-AS2c.351A>G (p.Glu117=)
n.380+631T>C
c.141A>G (p.Glu47=)
c.-16A>G (n.-16A>G)
13g.93830185A>TCA388465112GPC6,GPC6-AS2c.351A>T (p.Glu117Asp)
n.380+631T>A
c.141A>T (p.Glu47Asp)
c.-16A>T (n.-16A>T)
13g.93830186A>CCA388465113GPC6,GPC6-AS2c.352A>C (p.Lys118Gln)
n.380+630T>G
c.142A>C (p.Lys48Gln)
c.-15A>C (n.-15A>C)
13g.93830186A>GCA388465114GPC6,GPC6-AS2c.352A>G (p.Lys118Glu)
n.380+630T>C
c.142A>G (p.Lys48Glu)
c.-15A>G (n.-15A>G)
13g.93830186A>TCA388465115GPC6,GPC6-AS2c.352A>T (p.Lys118Ter)
n.380+630T>A
c.142A>T (p.Lys48Ter)
c.-15A>T (n.-15A>T)
 gnomAD v4
13g.93830187A=CA2111540706GPC6,GPC6-AS2c.353A= (p.Lys118=)
n.380+629T=
c.143A= (p.Lys48=)
c.-14A= (n.-14A=)
13g.93830187A>CCA388465116GPC6,GPC6-AS2c.353A>C (p.Lys118Thr)
n.380+629T>G
c.143A>C (p.Lys48Thr)
c.-14A>C (n.-14A>C)
13g.93830187A>GCA388465117GPC6,GPC6-AS2c.353A>G (p.Lys118Arg)
n.380+629T>C
c.143A>G (p.Lys48Arg)
c.-14A>G (n.-14A>G)
 dbSNP
13g.93830187A>TCA388465118GPC6,GPC6-AS2c.353A>T (p.Lys118Met)
n.380+629T>A
c.143A>T (p.Lys48Met)
c.-14A>T (n.-14A>T)
13g.93830188G>ACA484614753GPC6,GPC6-AS2c.354G>A (p.Lys118=)
n.380+628C>T
c.144G>A (p.Lys48=)
c.-13G>A (n.-13G>A)
 gnomAD v4
13g.93830188G>CCA388465120GPC6,GPC6-AS2c.354G>C (p.Lys118Asn)
n.380+628C>G
c.144G>C (p.Lys48Asn)
c.-13G>C (n.-13G>C)
13g.93830188G>TCA388465119GPC6,GPC6-AS2c.354G>T (p.Lys118Asn)
n.380+628C>A
c.144G>T (p.Lys48Asn)
c.-13G>T (n.-13G>T)
13g.93830189T>ACA388465121GPC6,GPC6-AS2c.355T>A (p.Ser119Thr)
n.380+627A>T
c.145T>A (p.Ser49Thr)
c.-12T>A (n.-12T>A)
13g.93830189T>CCA388465122GPC6,GPC6-AS2c.355T>C (p.Ser119Pro)
n.380+627A>G
c.145T>C (p.Ser49Pro)
c.-12T>C (n.-12T>C)
13g.93830189T>GCA388465123GPC6,GPC6-AS2c.355T>G (p.Ser119Ala)
n.380+627A>C
c.145T>G (p.Ser49Ala)
c.-12T>G (n.-12T>G)
13g.93830190C>ACA388465124GPC6,GPC6-AS2c.356C>A (p.Ser119Ter)
n.380+626G>T
c.146C>A (p.Ser49Ter)
c.-11C>A (n.-11C>A)
 gnomAD v4
13g.93830190C>GCA388465125GPC6,GPC6-AS2c.356C>G (p.Ser119Ter)
n.380+626G>C
c.146C>G (p.Ser49Ter)
c.-11C>G (n.-11C>G)
13g.93830190C>TCA388465126GPC6,GPC6-AS2c.356C>T (p.Ser119Leu)
n.380+626G>A
c.146C>T (p.Ser49Leu)
c.-11C>T (n.-11C>T)
13g.93830191A>CCA484614766GPC6,GPC6-AS2c.357A>C (p.Ser119=)
n.380+625T>G
c.147A>C (p.Ser49=)
c.-10A>C (n.-10A>C)
13g.93830191A>GCA484614768GPC6,GPC6-AS2c.357A>G (p.Ser119=)
n.380+625T>C
c.147A>G (p.Ser49=)
c.-10A>G (n.-10A>G)
13g.93830191A>TCA484614770GPC6,GPC6-AS2c.357A>T (p.Ser119=)
n.380+625T>A
c.147A>T (p.Ser49=)
c.-10A>T (n.-10A>T)
13g.93830192C>ACA388465127GPC6,GPC6-AS2c.358C>A (p.Leu120Ile)
n.380+624G>T
c.148C>A (p.Leu50Ile)
c.-9C>A (n.-9C>A)
13g.93830192C=CA2111540709GPC6,GPC6-AS2c.358C= (p.Leu120=)
n.380+624G=
c.148C= (p.Leu50=)
c.-9C= (n.-9C=)
13g.93830192C>GCA388465128GPC6,GPC6-AS2c.358C>G (p.Leu120Val)
n.380+624G>C
c.148C>G (p.Leu50Val)
c.-9C>G (n.-9C>G)
13g.93830192C>TCA484614775GPC6,GPC6-AS2c.358C>T (p.Leu120=)
n.380+624G>A
c.148C>T (p.Leu50=)
c.-9C>T (n.-9C>T)
 dbSNP gnomAD v2 gnomAD v4
13g.93830193T>ACA388465129GPC6,GPC6-AS2c.359T>A (p.Leu120Gln)
n.380+623A>T
c.149T>A (p.Leu50Gln)
c.-8T>A (n.-8T>A)
13g.93830193T>CCA388465130GPC6,GPC6-AS2c.359T>C (p.Leu120Pro)
n.380+623A>G
c.149T>C (p.Leu50Pro)
c.-8T>C (n.-8T>C)
13g.93830193T>GCA388465131GPC6,GPC6-AS2c.359T>G (p.Leu120Arg)
n.380+623A>C
c.149T>G (p.Leu50Arg)
c.-8T>G (n.-8T>G)
13g.93830194A>CCA484614782GPC6,GPC6-AS2c.360A>C (p.Leu120=)
n.380+622T>G
c.150A>C (p.Leu50=)
c.-7A>C (n.-7A>C)
13g.93830194A>GCA484614784GPC6,GPC6-AS2c.360A>G (p.Leu120=)
n.380+622T>C
c.150A>G (p.Leu50=)
c.-7A>G (n.-7A>G)
13g.93830194A>TCA484614786GPC6,GPC6-AS2c.360A>T (p.Leu120=)
n.380+622T>A
c.150A>T (p.Leu50=)
c.-7A>T (n.-7A>T)
13g.93830195A=CA2111540715GPC6,GPC6-AS2c.361A= (p.Asn121=)
n.380+621T=
c.151A= (p.Asn51=)
c.-6A= (n.-6A=)
13g.93830195A>CCA388465132GPC6,GPC6-AS2c.361A>C (p.Asn121His)
n.380+621T>G
c.151A>C (p.Asn51His)
c.-6A>C (n.-6A>C)
 dbSNP gnomAD v3 gnomAD v4
13g.93830195A>GCA388465133GPC6,GPC6-AS2c.361A>G (p.Asn121Asp)
n.380+621T>C
c.151A>G (p.Asn51Asp)
c.-6A>G (n.-6A>G)
13g.93830195A>TCA388465134GPC6,GPC6-AS2c.361A>T (p.Asn121Tyr)
n.380+621T>A
c.151A>T (p.Asn51Tyr)
c.-6A>T (n.-6A>T)
13g.93830196A=CA2111540720GPC6,GPC6-AS2c.362A= (p.Asn121=)
n.380+620T=
c.152A= (p.Asn51=)
c.-5A= (n.-5A=)
13g.93830196A>CCA388465137GPC6,GPC6-AS2c.362A>C (p.Asn121Thr)
n.380+620T>G
c.152A>C (p.Asn51Thr)
c.-5A>C (n.-5A>C)
13g.93830196A>GCA388465136GPC6,GPC6-AS2c.362A>G (p.Asn121Ser)
n.380+620T>C
c.152A>G (p.Asn51Ser)
c.-5A>G (n.-5A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830196A>TCA388465135GPC6,GPC6-AS2c.362A>T (p.Asn121Ile)
n.380+620T>A
c.152A>T (p.Asn51Ile)
c.-5A>T (n.-5A>T)
13g.93830197T>ACA388465138GPC6,GPC6-AS2c.363T>A (p.Asn121Lys)
n.380+619A>T
c.153T>A (p.Asn51Lys)
c.-4T>A (n.-4T>A)
13g.93830197T>CCA7016849GPC6,GPC6-AS2c.363T>C (p.Asn121=)
n.380+619A>G
c.153T>C (p.Asn51=)
c.-4T>C (n.-4T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830197T>GCA388465139GPC6,GPC6-AS2c.363T>G (p.Asn121Lys)
n.380+619A>C
c.153T>G (p.Asn51Lys)
c.-4T>G (n.-4T>G)
 gnomAD v4
13g.93830197T=CA2111540726GPC6,GPC6-AS2c.363T= (p.Asn121=)
n.380+619A=
c.153T= (p.Asn51=)
c.-4T= (n.-4T=)
13g.93830198G>ACA388465140GPC6,GPC6-AS2c.364G>A (p.Asp122Asn)
n.380+618C>T
c.154G>A (p.Asp52Asn)
c.-3G>A (n.-3G>A)
13g.93830198G>CCA388465141GPC6,GPC6-AS2c.364G>C (p.Asp122His)
n.380+618C>G
c.154G>C (p.Asp52His)
c.-3G>C (n.-3G>C)
 gnomAD v4
13g.93830198G>TCA388465142GPC6,GPC6-AS2c.364G>T (p.Asp122Tyr)
n.380+618C>A
c.154G>T (p.Asp52Tyr)
c.-3G>T (n.-3G>T)
13g.93830199A=CA2111540731GPC6,GPC6-AS2c.365A= (p.Asp122=)
n.380+617T=
c.155A= (p.Asp52=)
c.-2A= (n.-2A=)
13g.93830199A>CCA388465143GPC6,GPC6-AS2c.365A>C (p.Asp122Ala)
n.380+617T>G
c.155A>C (p.Asp52Ala)
c.-2A>C (n.-2A>C)
13g.93830199A>GCA255001046GPC6,GPC6-AS2c.365A>G (p.Asp122Gly)
n.380+617T>C
c.155A>G (p.Asp52Gly)
c.-2A>G (n.-2A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830199A>TCA388465144GPC6,GPC6-AS2c.365A>T (p.Asp122Val)
n.380+617T>A
c.155A>T (p.Asp52Val)
c.-2A>T (n.-2A>T)
13g.93830200T>ACA388465145GPC6,GPC6-AS2c.366T>A (p.Asp122Glu)
n.380+616A>T
c.156T>A (p.Asp52Glu)
c.-1T>A (n.-1T>A)
13g.93830200T>CCA484614806GPC6,GPC6-AS2c.366T>C (p.Asp122=)
n.380+616A>G
c.156T>C (p.Asp52=)
c.-1T>C (n.-1T>C)
 gnomAD v4
13g.93830200T>GCA388465146GPC6,GPC6-AS2c.366T>G (p.Asp122Glu)
n.380+616A>C
c.156T>G (p.Asp52Glu)
c.-1T>G (n.-1T>G)
13g.93830201A>CCA388465147GPC6,GPC6-AS2c.367A>C (p.Met123Leu)
n.380+615T>G
c.157A>C (p.Met53Leu)
c.1A>C (p.Met1Leu)
 gnomAD v4
13g.93830201A>GCA388465148GPC6,GPC6-AS2c.367A>G (p.Met123Val)
n.380+615T>C
c.157A>G (p.Met53Val)
c.1A>G (p.Met1Val)
 gnomAD v4
13g.93830201A>TCA388465149GPC6,GPC6-AS2c.367A>T (p.Met123Leu)
n.380+615T>A
c.157A>T (p.Met53Leu)
c.1A>T (p.Met1Leu)
13g.93830202T>ACA388465151GPC6,GPC6-AS2c.368T>A (p.Met123Lys)
n.380+614A>T
c.158T>A (p.Met53Lys)
c.2T>A (p.Met1Lys)
13g.93830202T>CCA388465152GPC6,GPC6-AS2c.368T>C (p.Met123Thr)
n.380+614A>G
c.158T>C (p.Met53Thr)
c.2T>C (p.Met1Thr)
 dbSNP
13g.93830202T>GCA388465150GPC6,GPC6-AS2c.368T>G (p.Met123Arg)
n.380+614A>C
c.158T>G (p.Met53Arg)
c.2T>G (p.Met1Arg)
13g.93830202T=CA2111540740GPC6,GPC6-AS2c.368T= (p.Met123=)
n.380+614A=
c.158T= (p.Met53=)
c.2T= (p.Met1=)
13g.93830203G>ACA388465153GPC6,GPC6-AS2c.369G>A (p.Met123Ile)
n.380+613C>T
c.159G>A (p.Met53Ile)
c.3G>A (p.Met1Ile)
13g.93830203G>CCA388465154GPC6,GPC6-AS2c.369G>C (p.Met123Ile)
n.380+613C>G
c.159G>C (p.Met53Ile)
c.3G>C (p.Met1Ile)
 gnomAD v4
13g.93830203G>TCA388465155GPC6,GPC6-AS2c.369G>T (p.Met123Ile)
n.380+613C>A
c.159G>T (p.Met53Ile)
c.3G>T (p.Met1Ile)
13g.93830204T>ACA388465156GPC6,GPC6-AS2c.370T>A (p.Phe124Ile)
n.380+612A>T
c.160T>A (p.Phe54Ile)
c.4T>A (p.Phe2Ile)
13g.93830204T>CCA7016850GPC6,GPC6-AS2c.370T>C (p.Phe124Leu)
n.380+612A>G
c.160T>C (p.Phe54Leu)
c.4T>C (p.Phe2Leu)
 dbSNP ExAC gnomAD v4
13g.93830204T>GCA388465157GPC6,GPC6-AS2c.370T>G (p.Phe124Val)
n.380+612A>C
c.160T>G (p.Phe54Val)
c.4T>G (p.Phe2Val)
13g.93830204T=CA2111540749GPC6,GPC6-AS2c.370T= (p.Phe124=)
n.380+612A=
c.160T= (p.Phe54=)
c.4T= (p.Phe2=)
13g.93830205T>ACA388465160GPC6,GPC6-AS2c.371T>A (p.Phe124Tyr)
n.380+611A>T
c.161T>A (p.Phe54Tyr)
c.5T>A (p.Phe2Tyr)
13g.93830205T>CCA388465158GPC6,GPC6-AS2c.371T>C (p.Phe124Ser)
n.380+611A>G
c.161T>C (p.Phe54Ser)
c.5T>C (p.Phe2Ser)
13g.93830205T>GCA388465159GPC6,GPC6-AS2c.371T>G (p.Phe124Cys)
n.380+611A>C
c.161T>G (p.Phe54Cys)
c.5T>G (p.Phe2Cys)
 gnomAD v4
13g.93830206T>ACA388465161GPC6,GPC6-AS2c.372T>A (p.Phe124Leu)
n.380+610A>T
c.162T>A (p.Phe54Leu)
c.6T>A (p.Phe2Leu)
13g.93830206T>CCA484614830GPC6,GPC6-AS2c.372T>C (p.Phe124=)
n.380+610A>G
c.162T>C (p.Phe54=)
c.6T>C (p.Phe2=)
13g.93830206T>GCA388465162GPC6,GPC6-AS2c.372T>G (p.Phe124Leu)
n.380+610A>C
c.162T>G (p.Phe54Leu)
c.6T>G (p.Phe2Leu)
13g.93830207delCA2623380630GPC6,GPC6-AS2c.373del (p.Val125TyrfsTer22)
n.380+609del
c.163del (p.Val55TyrfsTer22)
c.7del (p.Val3TyrfsTer22)
 gnomAD v4
13g.93830207G>ACA388465163GPC6,GPC6-AS2c.373G>A (p.Val125Ile)
n.380+609C>T
c.163G>A (p.Val55Ile)
c.7G>A (p.Val3Ile)
 gnomAD v4
13g.93830207G>CCA388465164GPC6,GPC6-AS2c.373G>C (p.Val125Leu)
n.380+609C>G
c.163G>C (p.Val55Leu)
c.7G>C (p.Val3Leu)
13g.93830207G>TCA388465165GPC6,GPC6-AS2c.373G>T (p.Val125Leu)
n.380+609C>A
c.163G>T (p.Val55Leu)
c.7G>T (p.Val3Leu)
13g.93830208T>ACA388465166GPC6,GPC6-AS2c.374T>A (p.Val125Glu)
n.380+608A>T
c.164T>A (p.Val55Glu)
c.8T>A (p.Val3Glu)
13g.93830208T>CCA7016851GPC6,GPC6-AS2c.374T>C (p.Val125Ala)
n.380+608A>G
c.164T>C (p.Val55Ala)
c.8T>C (p.Val3Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.93830208T>GCA388465167GPC6,GPC6-AS2c.374T>G (p.Val125Gly)
n.380+608A>C
c.164T>G (p.Val55Gly)
c.8T>G (p.Val3Gly)
 dbSNP
13g.93830208T=CA2111540755GPC6,GPC6-AS2c.374T= (p.Val125=)
n.380+608A=
c.164T= (p.Val55=)
c.8T= (p.Val3=)
13g.93830209A=CA2111540759GPC6,GPC6-AS2c.375A= (p.Val125=)
n.380+607T=
c.165A= (p.Val55=)
c.9A= (p.Val3=)
13g.93830209A>CCA484614841GPC6,GPC6-AS2c.375A>C (p.Val125=)
n.380+607T>G
c.165A>C (p.Val55=)
c.9A>C (p.Val3=)
13g.93830209A>GCA7016852GPC6,GPC6-AS2c.375A>G (p.Val125=)
n.380+607T>C
c.165A>G (p.Val55=)
c.9A>G (p.Val3=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830209A>TCA484614845GPC6,GPC6-AS2c.375A>T (p.Val125=)
n.380+607T>A
c.165A>T (p.Val55=)
c.9A>T (p.Val3=)
13g.93830210C>ACA484614846GPC6,GPC6-AS2c.376C>A (p.Arg126=)
n.380+606G>T
c.166C>A (p.Arg56=)
c.10C>A (p.Arg4=)
 gnomAD v4
13g.93830210C=CA2111540769GPC6,GPC6-AS2c.376C= (p.Arg126=)
n.380+606G=
c.166C= (p.Arg56=)
c.10C= (p.Arg4=)
13g.93830210C>GCA388465168GPC6,GPC6-AS2c.376C>G (p.Arg126Gly)
n.380+606G>C
c.166C>G (p.Arg56Gly)
c.10C>G (p.Arg4Gly)
 gnomAD v4
13g.93830210C>TCA7016853GPC6,GPC6-AS2c.376C>T (p.Arg126Trp)
n.380+606G>A
c.166C>T (p.Arg56Trp)
c.10C>T (p.Arg4Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
13g.93830211G>ACA388465169GPC6,GPC6-AS2c.377G>A (p.Arg126Gln)
n.380+605C>T
c.167G>A (p.Arg56Gln)
c.11G>A (p.Arg4Gln)
 dbSNP gnomAD v2 gnomAD v4
13g.93830211G>CCA388465170GPC6,GPC6-AS2c.377G>C (p.Arg126Pro)
n.380+605C>G
c.167G>C (p.Arg56Pro)
c.11G>C (p.Arg4Pro)
13g.93830211G=CA2111540773GPC6,GPC6-AS2c.377G= (p.Arg126=)
n.380+605C=
c.167G= (p.Arg56=)
c.11G= (p.Arg4=)
13g.93830211G>TCA388465171GPC6,GPC6-AS2c.377G>T (p.Arg126Leu)
n.380+605C>A
c.167G>T (p.Arg56Leu)
c.11G>T (p.Arg4Leu)
13g.93830212G>ACA7016854GPC6,GPC6-AS2c.378G>A (p.Arg126=)
n.380+604C>T
c.168G>A (p.Arg56=)
c.12G>A (p.Arg4=)
 dbSNP ExAC gnomAD v2
13g.93830212G>CCA484761371GPC6,GPC6-AS2c.378G>C (p.Arg126=)
n.380+604C>G
c.168G>C (p.Arg56=)
c.12G>C (p.Arg4=)
13g.93830212G=CA2111540780GPC6,GPC6-AS2c.378G= (p.Arg126=)
n.380+604C=
c.168G= (p.Arg56=)
c.12G= (p.Arg4=)
13g.93830212G>TCA484761372GPC6,GPC6-AS2c.378G>T (p.Arg126=)
n.380+604C>A
c.168G>T (p.Arg56=)
c.12G>T (p.Arg4=)
 COSMIC
13g.93830213A>CCA388465172GPC6,GPC6-AS2c.379A>C (p.Thr127Pro)
n.380+603T>G
c.169A>C (p.Thr57Pro)
c.13A>C (p.Thr5Pro)
13g.93830213A>GCA388465173GPC6,GPC6-AS2c.379A>G (p.Thr127Ala)
n.380+603T>C
c.169A>G (p.Thr57Ala)
c.13A>G (p.Thr5Ala)
13g.93830213A>TCA388465174GPC6,GPC6-AS2c.379A>T (p.Thr127Ser)
n.380+603T>A
c.169A>T (p.Thr57Ser)
c.13A>T (p.Thr5Ser)
13g.93830213_93830214delinsACCA2111540790GPC6,GPC6-AS2c.379_380delinsAC (p.Thr127=)
n.380+602_380+603delinsGT
c.169_170delinsAC (p.Thr57=)
c.13_14delinsAC (p.Thr5=)
13g.93830214C>ACA388465175GPC6,GPC6-AS2c.380C>A (p.Thr127Asn)
n.380+602G>T
c.170C>A (p.Thr57Asn)
c.14C>A (p.Thr5Asn)
13g.93830214C>GCA388465177GPC6,GPC6-AS2c.380C>G (p.Thr127Ser)
n.380+602G>C
c.170C>G (p.Thr57Ser)
c.14C>G (p.Thr5Ser)
13g.93830214C>TCA388465176GPC6,GPC6-AS2c.380C>T (p.Thr127Ile)
n.380+602G>A
c.170C>T (p.Thr57Ile)
c.14C>T (p.Thr5Ile)
13g.93830214_93830215delCA2623380631GPC6,GPC6-AS2c.380_381del (p.Thr127IlefsTer27)
n.380+601_380+602del
c.170_171del (p.Thr57IlefsTer27)
c.14_15del (p.Thr5IlefsTer27)
 gnomAD v4
13g.93830215delCA2111540793GPC6,GPC6-AS2c.381del (p.Tyr128MetfsTer19)
n.380+602del
c.171del (p.Tyr58MetfsTer19)
c.15del (p.Tyr6MetfsTer19)
 dbSNP
13g.93830215C>ACA484761378GPC6,GPC6-AS2c.381C>A (p.Thr127=)
n.380+601G>T
c.171C>A (p.Thr57=)
c.15C>A (p.Thr5=)
13g.93830215C>GCA484761375GPC6,GPC6-AS2c.381C>G (p.Thr127=)
n.380+601G>C
c.171C>G (p.Thr57=)
c.15C>G (p.Thr5=)
13g.93830215C>TCA484761377GPC6,GPC6-AS2c.381C>T (p.Thr127=)
n.380+601G>A
c.171C>T (p.Thr57=)
c.15C>T (p.Thr5=)
 gnomAD v4 COSMIC
13g.93830216T>ACA388465178GPC6,GPC6-AS2c.382T>A (p.Tyr128Asn)
n.380+600A>T
c.172T>A (p.Tyr58Asn)
c.16T>A (p.Tyr6Asn)
13g.93830216T>CCA388465179GPC6,GPC6-AS2c.382T>C (p.Tyr128His)
n.380+600A>G
c.172T>C (p.Tyr58His)
c.16T>C (p.Tyr6His)
13g.93830216T>GCA388465180GPC6,GPC6-AS2c.382T>G (p.Tyr128Asp)
n.380+600A>C
c.172T>G (p.Tyr58Asp)
c.16T>G (p.Tyr6Asp)
13g.93830217A>CCA388465181GPC6,GPC6-AS2c.383A>C (p.Tyr128Ser)
n.380+599T>G
c.173A>C (p.Tyr58Ser)
c.17A>C (p.Tyr6Ser)
13g.93830217A>GCA388465182GPC6,GPC6-AS2c.383A>G (p.Tyr128Cys)
n.380+599T>C
c.173A>G (p.Tyr58Cys)
c.17A>G (p.Tyr6Cys)
 gnomAD v4
13g.93830217A>TCA388465183GPC6,GPC6-AS2c.383A>T (p.Tyr128Phe)
n.380+599T>A
c.173A>T (p.Tyr58Phe)
c.17A>T (p.Tyr6Phe)
13g.93830218T>ACA388465184GPC6,GPC6-AS2c.384T>A (p.Tyr128Ter)
n.380+598A>T
c.174T>A (p.Tyr58Ter)
c.18T>A (p.Tyr6Ter)
13g.93830218T>CCA484761379GPC6,GPC6-AS2c.384T>C (p.Tyr128=)
n.380+598A>G
c.174T>C (p.Tyr58=)
c.18T>C (p.Tyr6=)
 gnomAD v4
13g.93830218T>GCA388465185GPC6,GPC6-AS2c.384T>G (p.Tyr128Ter)
n.380+598A>C
c.174T>G (p.Tyr58Ter)
c.18T>G (p.Tyr6Ter)
13g.93830219G>ACA388465186GPC6,GPC6-AS2c.385G>A (p.Gly129Ser)
n.380+597C>T
c.175G>A (p.Gly59Ser)
c.19G>A (p.Gly7Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830219G>CCA388465187GPC6,GPC6-AS2c.385G>C (p.Gly129Arg)
n.380+597C>G
c.175G>C (p.Gly59Arg)
c.19G>C (p.Gly7Arg)
13g.93830219G=CA2111540798GPC6,GPC6-AS2c.385G= (p.Gly129=)
n.380+597C=
c.175G= (p.Gly59=)
c.19G= (p.Gly7=)
13g.93830219G>TCA388465188GPC6,GPC6-AS2c.385G>T (p.Gly129Cys)
n.380+597C>A
c.175G>T (p.Gly59Cys)
c.19G>T (p.Gly7Cys)
 gnomAD v4
13g.93830219_93830220insCTGTACATCA2623380632GPC6,GPC6-AS2c.385_386insCTGTACAT (p.Gly129AlafsTer21)
n.380+596_380+597insATGTACAG
c.175_176insCTGTACAT (p.Gly59AlafsTer21)
c.19_20insCTGTACAT (p.Gly7AlafsTer21)
 gnomAD v4
13g.93830220G>ACA388465189GPC6,GPC6-AS2c.386G>A (p.Gly129Asp)
n.380+596C>T
c.176G>A (p.Gly59Asp)
c.20G>A (p.Gly7Asp)
 gnomAD v4 COSMIC
13g.93830220G>CCA388465190GPC6,GPC6-AS2c.386G>C (p.Gly129Ala)
n.380+596C>G
c.176G>C (p.Gly59Ala)
c.20G>C (p.Gly7Ala)
13g.93830220G>TCA388465191GPC6,GPC6-AS2c.386G>T (p.Gly129Val)
n.380+596C>A
c.176G>T (p.Gly59Val)
c.20G>T (p.Gly7Val)
13g.93830221C>ACA484761381GPC6,GPC6-AS2c.387C>A (p.Gly129=)
n.380+595G>T
c.177C>A (p.Gly59=)
c.21C>A (p.Gly7=)
 gnomAD v4
13g.93830221C=CA2111540810GPC6,GPC6-AS2c.387C= (p.Gly129=)
n.380+595G=
c.177C= (p.Gly59=)
c.21C= (p.Gly7=)
13g.93830221C>GCA484761380GPC6,GPC6-AS2c.387C>G (p.Gly129=)
n.380+595G>C
c.177C>G (p.Gly59=)
c.21C>G (p.Gly7=)
13g.93830221C>TCA255001047GPC6,GPC6-AS2c.387C>T (p.Gly129=)
n.380+595G>A
c.177C>T (p.Gly59=)
c.21C>T (p.Gly7=)
 ClinVar dbSNP gnomAD v4
13g.93830222A=CA2111540818GPC6,GPC6-AS2c.388A= (p.Met130=)
n.380+594T=
c.178A= (p.Met60=)
c.22A= (p.Met8=)
13g.93830222A>CCA388465194GPC6,GPC6-AS2c.388A>C (p.Met130Leu)
n.380+594T>G
c.178A>C (p.Met60Leu)
c.22A>C (p.Met8Leu)
 gnomAD v4
13g.93830222A>GCA388465193GPC6,GPC6-AS2c.388A>G (p.Met130Val)
n.380+594T>C
c.178A>G (p.Met60Val)
c.22A>G (p.Met8Val)
 dbSNP gnomAD v2 gnomAD v4
13g.93830222A>TCA388465192GPC6,GPC6-AS2c.388A>T (p.Met130Leu)
n.380+594T>A
c.178A>T (p.Met60Leu)
c.22A>T (p.Met8Leu)
 gnomAD v4
13g.93830223_93830224insATCCATCACTAAAATGATATGCATATCCATCACTAAATGATATCA2623380633GPC6,GPC6-AS2c.389_390insATCCATCACTAAAATGATATGCATATCCATCACTAAATGATAT (p.Met130IlefsTer14)
n.380+594_380+595insATCATTTAGTGATGGATATGCATATCATTTTAGTGATGGATAT
c.179_180insATCCATCACTAAAATGATATGCATATCCATCACTAAATGATAT (p.Met60IlefsTer14)
c.23_24insATCCATCACTAAAATGATATGCATATCCATCACTAAATGATAT (p.Met8IlefsTer14)
 gnomAD v4
13g.93830223T>ACA388465195GPC6,GPC6-AS2c.389T>A (p.Met130Lys)
n.380+593A>T
c.179T>A (p.Met60Lys)
c.23T>A (p.Met8Lys)
13g.93830223T>CCA388465196GPC6,GPC6-AS2c.389T>C (p.Met130Thr)
n.380+593A>G
c.179T>C (p.Met60Thr)
c.23T>C (p.Met8Thr)
13g.93830223T>GCA388465197GPC6,GPC6-AS2c.389T>G (p.Met130Arg)
n.380+593A>C
c.179T>G (p.Met60Arg)
c.23T>G (p.Met8Arg)
13g.93830224G>ACA388465198GPC6,GPC6-AS2c.390G>A (p.Met130Ile)
n.380+592C>T
c.180G>A (p.Met60Ile)
c.24G>A (p.Met8Ile)
13g.93830224G>CCA388465199GPC6,GPC6-AS2c.390G>C (p.Met130Ile)
n.380+592C>G
c.180G>C (p.Met60Ile)
c.24G>C (p.Met8Ile)
13g.93830224G>TCA388465200GPC6,GPC6-AS2c.390G>T (p.Met130Ile)
n.380+592C>A
c.180G>T (p.Met60Ile)
c.24G>T (p.Met8Ile)
13g.93830225C>ACA388465201GPC6,GPC6-AS2c.391C>A (p.Leu131Met)
n.380+591G>T
c.181C>A (p.Leu61Met)
c.25C>A (p.Leu9Met)
 gnomAD v4
13g.93830225C=CA2111540822GPC6,GPC6-AS2c.391C= (p.Leu131=)
n.380+591G=
c.181C= (p.Leu61=)
c.25C= (p.Leu9=)
13g.93830225C>GCA7016855GPC6,GPC6-AS2c.391C>G (p.Leu131Val)
n.380+591G>C
c.181C>G (p.Leu61Val)
c.25C>G (p.Leu9Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.93830225C>TCA484761383GPC6,GPC6-AS2c.391C>T (p.Leu131=)
n.380+591G>A
c.181C>T (p.Leu61=)
c.25C>T (p.Leu9=)
 gnomAD v4
13g.93830226T>ACA388465202GPC6,GPC6-AS2c.392T>A (p.Leu131Gln)
n.380+590A>T
c.182T>A (p.Leu61Gln)
c.26T>A (p.Leu9Gln)
13g.93830226T>CCA388465203GPC6,GPC6-AS2c.392T>C (p.Leu131Pro)
n.380+590A>G
c.182T>C (p.Leu61Pro)
c.26T>C (p.Leu9Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.93830226T>GCA388465204GPC6,GPC6-AS2c.392T>G (p.Leu131Arg)
n.380+590A>C
c.182T>G (p.Leu61Arg)
c.26T>G (p.Leu9Arg)
13g.93830226T=CA2111540833GPC6,GPC6-AS2c.392T= (p.Leu131=)
n.380+590A=
c.182T= (p.Leu61=)
c.26T= (p.Leu9=)
13g.93830227G>ACA484761384GPC6,GPC6-AS2c.393G>A (p.Leu131=)
n.380+589C>T
c.183G>A (p.Leu61=)
c.27G>A (p.Leu9=)
13g.93830227G>CCA484761385GPC6,GPC6-AS2c.393G>C (p.Leu131=)
n.380+589C>G
c.183G>C (p.Leu61=)
c.27G>C (p.Leu9=)
13g.93830227G>TCA484761386GPC6,GPC6-AS2c.393G>T (p.Leu131=)
n.380+589C>A
c.183G>T (p.Leu61=)
c.27G>T (p.Leu9=)
13g.93830228T>ACA388465205GPC6,GPC6-AS2c.394T>A (p.Tyr132Asn)
n.380+588A>T
c.184T>A (p.Tyr62Asn)
c.28T>A (p.Tyr10Asn)
13g.93830228T>CCA388465206GPC6,GPC6-AS2c.394T>C (p.Tyr132His)
n.380+588A>G
c.184T>C (p.Tyr62His)
c.28T>C (p.Tyr10His)
13g.93830228T>GCA388465207GPC6,GPC6-AS2c.394T>G (p.Tyr132Asp)
n.380+588A>C
c.184T>G (p.Tyr62Asp)
c.28T>G (p.Tyr10Asp)
13g.93830229A>CCA388465209GPC6,GPC6-AS2c.395A>C (p.Tyr132Ser)
n.380+587T>G
c.185A>C (p.Tyr62Ser)
c.29A>C (p.Tyr10Ser)
13g.93830229A>GCA388465210GPC6,GPC6-AS2c.395A>G (p.Tyr132Cys)
n.380+587T>C
c.185A>G (p.Tyr62Cys)
c.29A>G (p.Tyr10Cys)
13g.93830229A>TCA388465208GPC6,GPC6-AS2c.395A>T (p.Tyr132Phe)
n.380+587T>A
c.185A>T (p.Tyr62Phe)
c.29A>T (p.Tyr10Phe)
13g.93830230C>ACA388465211GPC6,GPC6-AS2c.396C>A (p.Tyr132Ter)
n.380+586G>T
c.186C>A (p.Tyr62Ter)
c.30C>A (p.Tyr10Ter)
 dbSNP gnomAD v4
13g.93830230C=CA2111540839GPC6,GPC6-AS2c.396C= (p.Tyr132=)
n.380+586G=
c.186C= (p.Tyr62=)
c.30C= (p.Tyr10=)
13g.93830230C>GCA388465212GPC6,GPC6-AS2c.396C>G (p.Tyr132Ter)
n.380+586G>C
c.186C>G (p.Tyr62Ter)
c.30C>G (p.Tyr10Ter)
13g.93830230C>TCA484761390GPC6,GPC6-AS2c.396C>T (p.Tyr132=)
n.380+586G>A
c.186C>T (p.Tyr62=)
c.30C>T (p.Tyr10=)
 gnomAD v4
13g.93830231A>CCA388465213GPC6,GPC6-AS2c.397A>C (p.Met133Leu)
n.380+585T>G
c.187A>C (p.Met63Leu)
c.31A>C (p.Met11Leu)
 gnomAD v4
13g.93830231A>GCA388465214GPC6,GPC6-AS2c.397A>G (p.Met133Val)
n.380+585T>C
c.187A>G (p.Met63Val)
c.31A>G (p.Met11Val)
 gnomAD v4
13g.93830231A>TCA388465215GPC6,GPC6-AS2c.397A>T (p.Met133Leu)
n.380+585T>A
c.187A>T (p.Met63Leu)
c.31A>T (p.Met11Leu)
 gnomAD v4
13g.93830232T>ACA388465217GPC6,GPC6-AS2c.398T>A (p.Met133Lys)
n.380+584A>T
c.188T>A (p.Met63Lys)
c.32T>A (p.Met11Lys)
13g.93830232T>CCA7016856GPC6,GPC6-AS2c.398T>C (p.Met133Thr)
n.380+584A>G
c.188T>C (p.Met63Thr)
c.32T>C (p.Met11Thr)
 dbSNP ExAC gnomAD v2
13g.93830232T>GCA388465216GPC6,GPC6-AS2c.398T>G (p.Met133Arg)
n.380+584A>C
c.188T>G (p.Met63Arg)
c.32T>G (p.Met11Arg)
 gnomAD v4
13g.93830232T=CA2111540843GPC6,GPC6-AS2c.398T= (p.Met133=)
n.380+584A=
c.188T= (p.Met63=)
c.32T= (p.Met11=)
13g.93830233G>ACA388465218GPC6,GPC6-AS2c.399G>A (p.Met133Ile)
n.380+583C>T
c.189G>A (p.Met63Ile)
c.33G>A (p.Met11Ile)
13g.93830233G>CCA388465219GPC6,GPC6-AS2c.399G>C (p.Met133Ile)
n.380+583C>G
c.189G>C (p.Met63Ile)
c.33G>C (p.Met11Ile)
13g.93830233G>TCA388465220GPC6,GPC6-AS2c.399G>T (p.Met133Ile)
n.380+583C>A
c.189G>T (p.Met63Ile)
c.33G>T (p.Met11Ile)
13g.93830234C>ACA388465221GPC6,GPC6-AS2c.400C>A (p.Gln134Lys)
n.380+582G>T
c.190C>A (p.Gln64Lys)
c.34C>A (p.Gln12Lys)
13g.93830234C>GCA388465222GPC6,GPC6-AS2c.400C>G (p.Gln134Glu)
n.380+582G>C
c.190C>G (p.Gln64Glu)
c.34C>G (p.Gln12Glu)
13g.93830234C>TCA388465223GPC6,GPC6-AS2c.400C>T (p.Gln134Ter)
n.380+582G>A
c.190C>T (p.Gln64Ter)
c.34C>T (p.Gln12Ter)
13g.93830235A>CCA388465224GPC6,GPC6-AS2c.401A>C (p.Gln134Pro)
n.380+581T>G
c.191A>C (p.Gln64Pro)
c.35A>C (p.Gln12Pro)
13g.93830235A>GCA388465226GPC6,GPC6-AS2c.401A>G (p.Gln134Arg)
n.380+581T>C
c.191A>G (p.Gln64Arg)
c.35A>G (p.Gln12Arg)
13g.93830235A>TCA388465225GPC6,GPC6-AS2c.401A>T (p.Gln134Leu)
n.380+581T>A
c.191A>T (p.Gln64Leu)
c.35A>T (p.Gln12Leu)
13g.93830236G>ACA484761395GPC6,GPC6-AS2c.402G>A (p.Gln134=)
n.380+580C>T
c.192G>A (p.Gln64=)
c.36G>A (p.Gln12=)
13g.93830236G>CCA388465227GPC6,GPC6-AS2c.402G>C (p.Gln134His)
n.380+580C>G
c.192G>C (p.Gln64His)
c.36G>C (p.Gln12His)
13g.93830236G>TCA388465228GPC6,GPC6-AS2c.402G>T (p.Gln134His)
n.380+580C>A
c.192G>T (p.Gln64His)
c.36G>T (p.Gln12His)
13g.93830237A>CCA388465229GPC6,GPC6-AS2c.403A>C (p.Asn135His)
n.380+579T>G
c.193A>C (p.Asn65His)
c.37A>C (p.Asn13His)
13g.93830237A>GCA388465230GPC6,GPC6-AS2c.403A>G (p.Asn135Asp)
n.380+579T>C
c.193A>G (p.Asn65Asp)
c.37A>G (p.Asn13Asp)
13g.93830237A>TCA388465231GPC6,GPC6-AS2c.403A>T (p.Asn135Tyr)
n.380+579T>A
c.193A>T (p.Asn65Tyr)
c.37A>T (p.Asn13Tyr)
13g.93830238A>CCA388465232GPC6,GPC6-AS2c.404A>C (p.Asn135Thr)
n.380+578T>G
c.194A>C (p.Asn65Thr)
c.38A>C (p.Asn13Thr)
13g.93830238A>GCA388465233GPC6,GPC6-AS2c.404A>G (p.Asn135Ser)
n.380+578T>C
c.194A>G (p.Asn65Ser)
c.38A>G (p.Asn13Ser)
13g.93830238A>TCA388465234GPC6,GPC6-AS2c.404A>T (p.Asn135Ile)
n.380+578T>A
c.194A>T (p.Asn65Ile)
c.38A>T (p.Asn13Ile)
13g.93830239T>ACA388465235GPC6,GPC6-AS2c.405T>A (p.Asn135Lys)
n.380+577A>T
c.195T>A (p.Asn65Lys)
c.39T>A (p.Asn13Lys)
13g.93830239T>CCA484761399GPC6,GPC6-AS2c.405T>C (p.Asn135=)
n.380+577A>G
c.195T>C (p.Asn65=)
c.39T>C (p.Asn13=)
 gnomAD v4 COSMIC
13g.93830239T>GCA388465236GPC6,GPC6-AS2c.405T>G (p.Asn135Lys)
n.380+577A>C
c.195T>G (p.Asn65Lys)
c.39T>G (p.Asn13Lys)
 gnomAD v4
13g.93830240T>ACA388465237GPC6,GPC6-AS2c.406T>A (p.Ser136Thr)
n.380+576A>T
c.196T>A (p.Ser66Thr)
c.40T>A (p.Ser14Thr)
13g.93830240T>CCA388465239GPC6,GPC6-AS2c.406T>C (p.Ser136Pro)
n.380+576A>G
c.196T>C (p.Ser66Pro)
c.40T>C (p.Ser14Pro)
13g.93830240T>GCA388465238GPC6,GPC6-AS2c.406T>G (p.Ser136Ala)
n.380+576A>C
c.196T>G (p.Ser66Ala)
c.40T>G (p.Ser14Ala)
13g.93830241C>ACA388465240GPC6,GPC6-AS2c.407C>A (p.Ser136Ter)
n.380+575G>T
c.197C>A (p.Ser66Ter)
c.41C>A (p.Ser14Ter)
13g.93830241C=CA2111540847GPC6,GPC6-AS2c.407C= (p.Ser136=)
n.380+575G=
c.197C= (p.Ser66=)
c.41C= (p.Ser14=)
13g.93830241C>GCA388465242GPC6,GPC6-AS2c.407C>G (p.Ser136Ter)
n.380+575G>C
c.197C>G (p.Ser66Ter)
c.41C>G (p.Ser14Ter)
13g.93830241C>TCA388465241GPC6,GPC6-AS2c.407C>T (p.Ser136Leu)
n.380+575G>A
c.197C>T (p.Ser66Leu)
c.41C>T (p.Ser14Leu)
 dbSNP
13g.93830242A=CA2111540866GPC6,GPC6-AS2c.408A= (p.Ser136=)
n.380+574T=
c.198A= (p.Ser66=)
c.42A= (p.Ser14=)
13g.93830242A>CCA484761405GPC6,GPC6-AS2c.408A>C (p.Ser136=)
n.380+574T>G
c.198A>C (p.Ser66=)
c.42A>C (p.Ser14=)
13g.93830242A>GCA484761406GPC6,GPC6-AS2c.408A>G (p.Ser136=)
n.380+574T>C
c.198A>G (p.Ser66=)
c.42A>G (p.Ser14=)
 dbSNP gnomAD v2 gnomAD v4
13g.93830242A>TCA484761404GPC6,GPC6-AS2c.408A>T (p.Ser136=)
n.380+574T>A
c.198A>T (p.Ser66=)
c.42A>T (p.Ser14=)
 dbSNP
13g.93830243G>ACA388465243GPC6,GPC6-AS2c.409G>A (p.Glu137Lys)
n.380+573C>T
c.199G>A (p.Glu67Lys)
c.43G>A (p.Glu15Lys)
13g.93830243G>CCA388465244GPC6,GPC6-AS2c.409G>C (p.Glu137Gln)
n.380+573C>G
c.199G>C (p.Glu67Gln)
c.43G>C (p.Glu15Gln)
13g.93830243G>TCA388465245GPC6,GPC6-AS2c.409G>T (p.Glu137Ter)
n.380+573C>A
c.199G>T (p.Glu67Ter)
c.43G>T (p.Glu15Ter)
13g.93830244A>CCA388465246GPC6,GPC6-AS2c.410A>C (p.Glu137Ala)
n.380+572T>G
c.200A>C (p.Glu67Ala)
c.44A>C (p.Glu15Ala)
13g.93830244A>GCA388465247GPC6,GPC6-AS2c.410A>G (p.Glu137Gly)
n.380+572T>C
c.200A>G (p.Glu67Gly)
c.44A>G (p.Glu15Gly)
13g.93830244A>TCA388465248GPC6,GPC6-AS2c.410A>T (p.Glu137Val)
n.380+572T>A
c.200A>T (p.Glu67Val)
c.44A>T (p.Glu15Val)
13g.93830245A>CCA388465249GPC6,GPC6-AS2c.411A>C (p.Glu137Asp)
n.380+571T>G
c.201A>C (p.Glu67Asp)
c.45A>C (p.Glu15Asp)
13g.93830245A>GCA484761414GPC6,GPC6-AS2c.411A>G (p.Glu137=)
n.380+571T>C
c.201A>G (p.Glu67=)
c.45A>G (p.Glu15=)
13g.93830245A>TCA388465250GPC6,GPC6-AS2c.411A>T (p.Glu137Asp)
n.380+571T>A
c.201A>T (p.Glu67Asp)
c.45A>T (p.Glu15Asp)
13g.93830246G>ACA388465251GPC6,GPC6-AS2c.412G>A (p.Val138Ile)
n.380+570C>T
c.202G>A (p.Val68Ile)
c.46G>A (p.Val16Ile)
13g.93830246G>CCA388465252GPC6,GPC6-AS2c.412G>C (p.Val138Leu)
n.380+570C>G
c.202G>C (p.Val68Leu)
c.46G>C (p.Val16Leu)
13g.93830246G>TCA388465253GPC6,GPC6-AS2c.412G>T (p.Val138Phe)
n.380+570C>A
c.202G>T (p.Val68Phe)
c.46G>T (p.Val16Phe)
13g.93830247T>ACA388465256GPC6,GPC6-AS2c.413T>A (p.Val138Asp)
n.380+569A>T
c.203T>A (p.Val68Asp)
c.47T>A (p.Val16Asp)
13g.93830247T>CCA388465255GPC6,GPC6-AS2c.413T>C (p.Val138Ala)
n.380+569A>G
c.203T>C (p.Val68Ala)
c.47T>C (p.Val16Ala)
 dbSNP gnomAD v3 gnomAD v4
13g.93830247T>GCA388465254GPC6,GPC6-AS2c.413T>G (p.Val138Gly)
n.380+569A>C
c.203T>G (p.Val68Gly)
c.47T>G (p.Val16Gly)
13g.93830247T=CA2111540871GPC6,GPC6-AS2c.413T= (p.Val138=)
n.380+569A=
c.203T= (p.Val68=)
c.47T= (p.Val16=)
13g.93830248C>ACA484761419GPC6,GPC6-AS2c.414C>A (p.Val138=)
n.380+568G>T
c.204C>A (p.Val68=)
c.48C>A (p.Val16=)
 dbSNP gnomAD v3 gnomAD v4
13g.93830248C>GCA484761420GPC6,GPC6-AS2c.414C>G (p.Val138=)
n.380+568G>C
c.204C>G (p.Val68=)
c.48C>G (p.Val16=)
13g.93830248C>TCA484761421GPC6,GPC6-AS2c.414C>T (p.Val138=)
n.380+568G>A
c.204C>T (p.Val68=)
c.48C>T (p.Val16=)
 gnomAD v4
13g.93830249T>ACA388465257GPC6,GPC6-AS2c.415T>A (p.Phe139Ile)
n.380+567A>T
c.205T>A (p.Phe69Ile)
c.49T>A (p.Phe17Ile)
13g.93830249T>CCA388465258GPC6,GPC6-AS2c.415T>C (p.Phe139Leu)
n.380+567A>G
c.205T>C (p.Phe69Leu)
c.49T>C (p.Phe17Leu)
13g.93830249T>GCA388465259GPC6,GPC6-AS2c.415T>G (p.Phe139Val)
n.380+567A>C
c.205T>G (p.Phe69Val)
c.49T>G (p.Phe17Val)
13g.93830250T>ACA388465260GPC6,GPC6-AS2c.416T>A (p.Phe139Tyr)
n.380+566A>T
c.206T>A (p.Phe69Tyr)
c.50T>A (p.Phe17Tyr)
13g.93830250T>CCA388465261GPC6,GPC6-AS2c.416T>C (p.Phe139Ser)
n.380+566A>G
c.206T>C (p.Phe69Ser)
c.50T>C (p.Phe17Ser)
13g.93830250T>GCA388465262GPC6,GPC6-AS2c.416T>G (p.Phe139Cys)
n.380+566A>C
c.206T>G (p.Phe69Cys)
c.50T>G (p.Phe17Cys)
13g.93830251C>ACA388465263GPC6,GPC6-AS2c.417C>A (p.Phe139Leu)
n.380+565G>T
c.207C>A (p.Phe69Leu)
c.51C>A (p.Phe17Leu)
13g.93830251C>GCA388465264GPC6,GPC6-AS2c.417C>G (p.Phe139Leu)
n.380+565G>C
c.207C>G (p.Phe69Leu)
c.51C>G (p.Phe17Leu)
13g.93830251C>TCA484761425GPC6,GPC6-AS2c.417C>T (p.Phe139=)
n.380+565G>A
c.207C>T (p.Phe69=)
c.51C>T (p.Phe17=)
13g.93830252C>ACA388465265GPC6,GPC6-AS2c.418C>A (p.Gln140Lys)
n.380+564G>T
c.208C>A (p.Gln70Lys)
c.52C>A (p.Gln18Lys)
13g.93830252C>GCA388465266GPC6,GPC6-AS2c.418C>G (p.Gln140Glu)
n.380+564G>C
c.208C>G (p.Gln70Glu)
c.52C>G (p.Gln18Glu)
13g.93830252C>TCA388465267GPC6,GPC6-AS2c.418C>T (p.Gln140Ter)
n.380+564G>A
c.208C>T (p.Gln70Ter)
c.52C>T (p.Gln18Ter)
13g.93830253A=CA2111540880GPC6,GPC6-AS2c.419A= (p.Gln140=)
n.380+563T=
c.209A= (p.Gln70=)
c.53A= (p.Gln18=)
13g.93830253A>CCA388465270GPC6,GPC6-AS2c.419A>C (p.Gln140Pro)
n.380+563T>G
c.209A>C (p.Gln70Pro)
c.53A>C (p.Gln18Pro)
13g.93830253A>GCA388465269GPC6,GPC6-AS2c.419A>G (p.Gln140Arg)
n.380+563T>C
c.209A>G (p.Gln70Arg)
c.53A>G (p.Gln18Arg)
 dbSNP gnomAD v2 gnomAD v4
13g.93830253A>TCA388465268GPC6,GPC6-AS2c.419A>T (p.Gln140Leu)
n.380+563T>A
c.209A>T (p.Gln70Leu)
c.53A>T (p.Gln18Leu)
13g.93830254G>ACA484761427GPC6,GPC6-AS2c.420G>A (p.Gln140=)
n.380+562C>T
c.210G>A (p.Gln70=)
c.54G>A (p.Gln18=)
13g.93830254G>CCA388465271GPC6,GPC6-AS2c.420G>C (p.Gln140His)
n.380+562C>G
c.210G>C (p.Gln70His)
c.54G>C (p.Gln18His)
13g.93830254G>TCA388465272GPC6,GPC6-AS2c.420G>T (p.Gln140His)
n.380+562C>A
c.210G>T (p.Gln70His)
c.54G>T (p.Gln18His)

Number of alleles fetched