Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.8090090_8090095delCA5870960TUBc.112_117del (p.Gln38_Lys39del)
c.277_282del (p.Gln93_Lys94del)
c.130_135del (p.Gln44_Lys45del)
c.238_243del (p.Gln80_Lys81del)
c.148_153del (p.Gln50_Lys51del)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090090delCA2612330584TUBc.112del (p.Gln38ArgfsTer9)
c.277del (p.Gln93ArgfsTer9)
c.130del (p.Gln44ArgfsTer9)
c.238del (p.Gln80ArgfsTer9)
c.148del (p.Gln50ArgfsTer9)
 gnomAD v4
11g.8090090C>ACA379562613TUBc.112C>A (p.Gln38Lys)
c.277C>A (p.Gln93Lys)
c.130C>A (p.Gln44Lys)
c.238C>A (p.Gln80Lys)
c.148C>A (p.Gln50Lys)
11g.8090090C>GCA379562615TUBc.112C>G (p.Gln38Glu)
c.277C>G (p.Gln93Glu)
c.130C>G (p.Gln44Glu)
c.238C>G (p.Gln80Glu)
c.148C>G (p.Gln50Glu)
11g.8090090C>TCA379562616TUBc.112C>T (p.Gln38Ter)
c.277C>T (p.Gln93Ter)
c.130C>T (p.Gln44Ter)
c.238C>T (p.Gln80Ter)
c.148C>T (p.Gln50Ter)
11g.8090090_8090093delinsCAGACA1950953302TUBc.112_115delinsCAGA (p.Gln38=)
c.277_280delinsCAGA (p.Gln93=)
c.130_133delinsCAGA (p.Gln44=)
c.238_241delinsCAGA (p.Gln80=)
c.148_151delinsCAGA (p.Gln50=)
11g.8090091A>CCA379562618TUBc.113A>C (p.Gln38Pro)
c.278A>C (p.Gln93Pro)
c.131A>C (p.Gln44Pro)
c.239A>C (p.Gln80Pro)
c.149A>C (p.Gln50Pro)
11g.8090091A>GCA379562620TUBc.113A>G (p.Gln38Arg)
c.278A>G (p.Gln93Arg)
c.131A>G (p.Gln44Arg)
c.239A>G (p.Gln80Arg)
c.149A>G (p.Gln50Arg)
11g.8090091A>TCA379562619TUBc.113A>T (p.Gln38Leu)
c.278A>T (p.Gln93Leu)
c.131A>T (p.Gln44Leu)
c.239A>T (p.Gln80Leu)
c.149A>T (p.Gln50Leu)
11g.8090099_8090101dupCA5870964TUBc.121_123dup (p.Lys41_Arg42insLys)
c.286_288dup (p.Lys96_Arg97insLys)
c.139_141dup (p.Lys47_Arg48insLys)
c.247_249dup (p.Lys83_Arg84insLys)
c.157_159dup (p.Lys53_Arg54insLys)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.8090099_8090101delCA5870963TUBc.121_123del (p.Lys41del)
c.286_288del (p.Lys96del)
c.139_141del (p.Lys47del)
c.247_249del (p.Lys83del)
c.157_159del (p.Lys53del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.8090092G>ACA5870965TUBc.114G>A (p.Gln38=)
c.279G>A (p.Gln93=)
c.132G>A (p.Gln44=)
c.240G>A (p.Gln80=)
c.150G>A (p.Gln50=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090092G>CCA379562624TUBc.114G>C (p.Gln38His)
c.279G>C (p.Gln93His)
c.132G>C (p.Gln44His)
c.240G>C (p.Gln80His)
c.150G>C (p.Gln50His)
11g.8090092G=CA1950953312TUBc.114G= (p.Gln38=)
c.279G= (p.Gln93=)
c.132G= (p.Gln44=)
c.240G= (p.Gln80=)
c.150G= (p.Gln50=)
11g.8090092G>TCA379562625TUBc.114G>T (p.Gln38His)
c.279G>T (p.Gln93His)
c.132G>T (p.Gln44His)
c.240G>T (p.Gln80His)
c.150G>T (p.Gln50His)
11g.8090093A>CCA379562626TUBc.115A>C (p.Lys39Gln)
c.280A>C (p.Lys94Gln)
c.133A>C (p.Lys45Gln)
c.241A>C (p.Lys81Gln)
c.151A>C (p.Lys51Gln)
11g.8090093A>GCA379562628TUBc.115A>G (p.Lys39Glu)
c.280A>G (p.Lys94Glu)
c.133A>G (p.Lys45Glu)
c.241A>G (p.Lys81Glu)
c.151A>G (p.Lys51Glu)
11g.8090093A>TCA379562630TUBc.115A>T (p.Lys39Ter)
c.280A>T (p.Lys94Ter)
c.133A>T (p.Lys45Ter)
c.241A>T (p.Lys81Ter)
c.151A>T (p.Lys51Ter)
11g.8090094A>CCA379562631TUBc.116A>C (p.Lys39Thr)
c.281A>C (p.Lys94Thr)
c.134A>C (p.Lys45Thr)
c.242A>C (p.Lys81Thr)
c.152A>C (p.Lys51Thr)
11g.8090094A>GCA379562632TUBc.116A>G (p.Lys39Arg)
c.281A>G (p.Lys94Arg)
c.134A>G (p.Lys45Arg)
c.242A>G (p.Lys81Arg)
c.152A>G (p.Lys51Arg)
11g.8090094A>TCA379562633TUBc.116A>T (p.Lys39Met)
c.281A>T (p.Lys94Met)
c.134A>T (p.Lys45Met)
c.242A>T (p.Lys81Met)
c.152A>T (p.Lys51Met)
11g.8090095G>ACA473009046TUBc.117G>A (p.Lys39=)
c.282G>A (p.Lys94=)
c.135G>A (p.Lys45=)
c.243G>A (p.Lys81=)
c.153G>A (p.Lys51=)
11g.8090095G>CCA379562636TUBc.117G>C (p.Lys39Asn)
c.282G>C (p.Lys94Asn)
c.135G>C (p.Lys45Asn)
c.243G>C (p.Lys81Asn)
c.153G>C (p.Lys51Asn)
11g.8090095G>TCA379562637TUBc.117G>T (p.Lys39Asn)
c.282G>T (p.Lys94Asn)
c.135G>T (p.Lys45Asn)
c.243G>T (p.Lys81Asn)
c.153G>T (p.Lys51Asn)
11g.8090096A=CA1950953316TUBc.118A= (p.Lys40=)
c.283A= (p.Lys95=)
c.136A= (p.Lys46=)
c.244A= (p.Lys82=)
c.154A= (p.Lys52=)
11g.8090096A>CCA5870966TUBc.118A>C (p.Lys40Gln)
c.283A>C (p.Lys95Gln)
c.136A>C (p.Lys46Gln)
c.244A>C (p.Lys82Gln)
c.154A>C (p.Lys52Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090096A>GCA379562639TUBc.118A>G (p.Lys40Glu)
c.283A>G (p.Lys95Glu)
c.136A>G (p.Lys46Glu)
c.244A>G (p.Lys82Glu)
c.154A>G (p.Lys52Glu)
11g.8090096A>TCA379562640TUBc.118A>T (p.Lys40Ter)
c.283A>T (p.Lys95Ter)
c.136A>T (p.Lys46Ter)
c.244A>T (p.Lys82Ter)
c.154A>T (p.Lys52Ter)
11g.8090097A>CCA379562642TUBc.119A>C (p.Lys40Thr)
c.284A>C (p.Lys95Thr)
c.137A>C (p.Lys46Thr)
c.245A>C (p.Lys82Thr)
c.155A>C (p.Lys52Thr)
11g.8090097A>GCA379562649TUBc.119A>G (p.Lys40Arg)
c.284A>G (p.Lys95Arg)
c.137A>G (p.Lys46Arg)
c.245A>G (p.Lys82Arg)
c.155A>G (p.Lys52Arg)
 gnomAD v4
11g.8090097A>TCA379562651TUBc.119A>T (p.Lys40Met)
c.284A>T (p.Lys95Met)
c.137A>T (p.Lys46Met)
c.245A>T (p.Lys82Met)
c.155A>T (p.Lys52Met)
11g.8090098G>ACA473009047TUBc.120G>A (p.Lys40=)
c.285G>A (p.Lys95=)
c.138G>A (p.Lys46=)
c.246G>A (p.Lys82=)
c.156G>A (p.Lys52=)
 gnomAD v4
11g.8090098G>CCA379562653TUBc.120G>C (p.Lys40Asn)
c.285G>C (p.Lys95Asn)
c.138G>C (p.Lys46Asn)
c.246G>C (p.Lys82Asn)
c.156G>C (p.Lys52Asn)
11g.8090098G=CA1950953319TUBc.120G= (p.Lys40=)
c.285G= (p.Lys95=)
c.138G= (p.Lys46=)
c.246G= (p.Lys82=)
c.156G= (p.Lys52=)
11g.8090098G>TCA379562655TUBc.120G>T (p.Lys40Asn)
c.285G>T (p.Lys95Asn)
c.138G>T (p.Lys46Asn)
c.246G>T (p.Lys82Asn)
c.156G>T (p.Lys52Asn)
 dbSNP gnomAD v2 gnomAD v4
11g.8090099A=CA1950953323TUBc.121A= (p.Lys41=)
c.286A= (p.Lys96=)
c.139A= (p.Lys47=)
c.247A= (p.Lys83=)
c.157A= (p.Lys53=)
11g.8090099A>CCA5870967TUBc.121A>C (p.Lys41Gln)
c.286A>C (p.Lys96Gln)
c.139A>C (p.Lys47Gln)
c.247A>C (p.Lys83Gln)
c.157A>C (p.Lys53Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.8090099A>GCA379562659TUBc.121A>G (p.Lys41Glu)
c.286A>G (p.Lys96Glu)
c.139A>G (p.Lys47Glu)
c.247A>G (p.Lys83Glu)
c.157A>G (p.Lys53Glu)
11g.8090099A>TCA379562661TUBc.121A>T (p.Lys41Ter)
c.286A>T (p.Lys96Ter)
c.139A>T (p.Lys47Ter)
c.247A>T (p.Lys83Ter)
c.157A>T (p.Lys53Ter)
 gnomAD v4 COSMIC
11g.8090100A=CA1950953327TUBc.122A= (p.Lys41=)
c.287A= (p.Lys96=)
c.140A= (p.Lys47=)
c.248A= (p.Lys83=)
c.158A= (p.Lys53=)
11g.8090100A>CCA379562663TUBc.122A>C (p.Lys41Thr)
c.287A>C (p.Lys96Thr)
c.140A>C (p.Lys47Thr)
c.248A>C (p.Lys83Thr)
c.158A>C (p.Lys53Thr)
11g.8090100A>GCA379562664TUBc.122A>G (p.Lys41Arg)
c.287A>G (p.Lys96Arg)
c.140A>G (p.Lys47Arg)
c.248A>G (p.Lys83Arg)
c.158A>G (p.Lys53Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.8090100A>TCA379562665TUBc.122A>T (p.Lys41Met)
c.287A>T (p.Lys96Met)
c.140A>T (p.Lys47Met)
c.248A>T (p.Lys83Met)
c.158A>T (p.Lys53Met)
11g.8090101G>ACA5870968TUBc.123G>A (p.Lys41=)
c.288G>A (p.Lys96=)
c.141G>A (p.Lys47=)
c.249G>A (p.Lys83=)
c.159G>A (p.Lys53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090101G>CCA379562667TUBc.123G>C (p.Lys41Asn)
c.288G>C (p.Lys96Asn)
c.141G>C (p.Lys47Asn)
c.249G>C (p.Lys83Asn)
c.159G>C (p.Lys53Asn)
11g.8090101G=CA1950953332TUBc.123G= (p.Lys41=)
c.288G= (p.Lys96=)
c.141G= (p.Lys47=)
c.249G= (p.Lys83=)
c.159G= (p.Lys53=)
11g.8090101G>TCA379562666TUBc.123G>T (p.Lys41Asn)
c.288G>T (p.Lys96Asn)
c.141G>T (p.Lys47Asn)
c.249G>T (p.Lys83Asn)
c.159G>T (p.Lys53Asn)
11g.8090102C>ACA5870969TUBc.124C>A (p.Arg42Ser)
c.289C>A (p.Arg97Ser)
c.142C>A (p.Arg48Ser)
c.250C>A (p.Arg84Ser)
c.160C>A (p.Arg54Ser)
 dbSNP ExAC gnomAD v2
11g.8090102C=CA1950953338TUBc.124C= (p.Arg42=)
c.289C= (p.Arg97=)
c.142C= (p.Arg48=)
c.250C= (p.Arg84=)
c.160C= (p.Arg54=)
11g.8090102C>GCA379562670TUBc.124C>G (p.Arg42Gly)
c.289C>G (p.Arg97Gly)
c.142C>G (p.Arg48Gly)
c.250C>G (p.Arg84Gly)
c.160C>G (p.Arg54Gly)
11g.8090102C>TCA217415545TUBc.124C>T (p.Arg42Cys)
c.289C>T (p.Arg97Cys)
c.142C>T (p.Arg48Cys)
c.250C>T (p.Arg84Cys)
c.160C>T (p.Arg54Cys)
 dbSNP gnomAD v2 gnomAD v4
11g.8090103G>ACA5870970TUBc.125G>A (p.Arg42His)
c.290G>A (p.Arg97His)
c.143G>A (p.Arg48His)
c.251G>A (p.Arg84His)
c.161G>A (p.Arg54His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090103G>CCA379562671TUBc.125G>C (p.Arg42Pro)
c.290G>C (p.Arg97Pro)
c.143G>C (p.Arg48Pro)
c.251G>C (p.Arg84Pro)
c.161G>C (p.Arg54Pro)
11g.8090103G=CA1950953345TUBc.125G= (p.Arg42=)
c.290G= (p.Arg97=)
c.143G= (p.Arg48=)
c.251G= (p.Arg84=)
c.161G= (p.Arg54=)
11g.8090103G>TCA379562672TUBc.125G>T (p.Arg42Leu)
c.290G>T (p.Arg97Leu)
c.143G>T (p.Arg48Leu)
c.251G>T (p.Arg84Leu)
c.161G>T (p.Arg54Leu)
 dbSNP gnomAD v4
11g.8090104C>ACA473009048TUBc.126C>A (p.Arg42=)
c.291C>A (p.Arg97=)
c.144C>A (p.Arg48=)
c.252C>A (p.Arg84=)
c.162C>A (p.Arg54=)
11g.8090104C>GCA473009049TUBc.126C>G (p.Arg42=)
c.291C>G (p.Arg97=)
c.144C>G (p.Arg48=)
c.252C>G (p.Arg84=)
c.162C>G (p.Arg54=)
 gnomAD v4
11g.8090104C>TCA473009050TUBc.126C>T (p.Arg42=)
c.291C>T (p.Arg97=)
c.144C>T (p.Arg48=)
c.252C>T (p.Arg84=)
c.162C>T (p.Arg54=)
 gnomAD v4
11g.8090105delCA2741147967TUBc.127del (p.Gln43ArgfsTer4)
c.292del (p.Gln98ArgfsTer4)
c.145del (p.Gln49ArgfsTer4)
c.253del (p.Gln85ArgfsTer4)
c.163del (p.Gln55ArgfsTer4)
11g.8090105C>ACA379562676TUBc.127C>A (p.Gln43Lys)
c.292C>A (p.Gln98Lys)
c.145C>A (p.Gln49Lys)
c.253C>A (p.Gln85Lys)
c.163C>A (p.Gln55Lys)
11g.8090105C>GCA379562673TUBc.127C>G (p.Gln43Glu)
c.292C>G (p.Gln98Glu)
c.145C>G (p.Gln49Glu)
c.253C>G (p.Gln85Glu)
c.163C>G (p.Gln55Glu)
11g.8090105C>TCA379562675TUBc.127C>T (p.Gln43Ter)
c.292C>T (p.Gln98Ter)
c.145C>T (p.Gln49Ter)
c.253C>T (p.Gln85Ter)
c.163C>T (p.Gln55Ter)
11g.8090106A>CCA379562679TUBc.128A>C (p.Gln43Pro)
c.293A>C (p.Gln98Pro)
c.146A>C (p.Gln49Pro)
c.254A>C (p.Gln85Pro)
c.164A>C (p.Gln55Pro)
11g.8090106A>GCA379562681TUBc.128A>G (p.Gln43Arg)
c.293A>G (p.Gln98Arg)
c.146A>G (p.Gln49Arg)
c.254A>G (p.Gln85Arg)
c.164A>G (p.Gln55Arg)
11g.8090106A>TCA379562683TUBc.128A>T (p.Gln43Leu)
c.293A>T (p.Gln98Leu)
c.146A>T (p.Gln49Leu)
c.254A>T (p.Gln85Leu)
c.164A>T (p.Gln55Leu)
11g.8090107G>ACA473009051TUBc.129G>A (p.Gln43=)
c.294G>A (p.Gln98=)
c.147G>A (p.Gln49=)
c.255G>A (p.Gln85=)
c.165G>A (p.Gln55=)
11g.8090107G>CCA379562685TUBc.129G>C (p.Gln43His)
c.294G>C (p.Gln98His)
c.147G>C (p.Gln49His)
c.255G>C (p.Gln85His)
c.165G>C (p.Gln55His)
11g.8090107G>TCA379562686TUBc.129G>T (p.Gln43His)
c.294G>T (p.Gln98His)
c.147G>T (p.Gln49His)
c.255G>T (p.Gln85His)
c.165G>T (p.Gln55His)
11g.8090108G>ACA379562690TUBc.130G>A (p.Glu44Lys)
c.295G>A (p.Glu99Lys)
c.148G>A (p.Glu50Lys)
c.256G>A (p.Glu86Lys)
c.166G>A (p.Glu56Lys)
 dbSNP gnomAD v4
11g.8090108G>CCA379562688TUBc.130G>C (p.Glu44Gln)
c.295G>C (p.Glu99Gln)
c.148G>C (p.Glu50Gln)
c.256G>C (p.Glu86Gln)
c.166G>C (p.Glu56Gln)
11g.8090108G=CA1950953348TUBc.130G= (p.Glu44=)
c.295G= (p.Glu99=)
c.148G= (p.Glu50=)
c.256G= (p.Glu86=)
c.166G= (p.Glu56=)
11g.8090108G>TCA379562689TUBc.130G>T (p.Glu44Ter)
c.295G>T (p.Glu99Ter)
c.148G>T (p.Glu50Ter)
c.256G>T (p.Glu86Ter)
c.166G>T (p.Glu56Ter)
11g.8090109A>CCA379562691TUBc.131A>C (p.Glu44Ala)
c.296A>C (p.Glu99Ala)
c.149A>C (p.Glu50Ala)
c.257A>C (p.Glu86Ala)
c.167A>C (p.Glu56Ala)
11g.8090109A>GCA379562693TUBc.131A>G (p.Glu44Gly)
c.296A>G (p.Glu99Gly)
c.149A>G (p.Glu50Gly)
c.257A>G (p.Glu86Gly)
c.167A>G (p.Glu56Gly)
11g.8090109A>TCA379562694TUBc.131A>T (p.Glu44Val)
c.296A>T (p.Glu99Val)
c.149A>T (p.Glu50Val)
c.257A>T (p.Glu86Val)
c.167A>T (p.Glu56Val)
11g.8090110G>ACA473009052TUBc.132G>A (p.Glu44=)
c.297G>A (p.Glu99=)
c.150G>A (p.Glu50=)
c.258G>A (p.Glu86=)
c.168G>A (p.Glu56=)
11g.8090110G>CCA379562696TUBc.132G>C (p.Glu44Asp)
c.297G>C (p.Glu99Asp)
c.150G>C (p.Glu50Asp)
c.258G>C (p.Glu86Asp)
c.168G>C (p.Glu56Asp)
11g.8090110G>TCA379562697TUBc.132G>T (p.Glu44Asp)
c.297G>T (p.Glu99Asp)
c.150G>T (p.Glu50Asp)
c.258G>T (p.Glu86Asp)
c.168G>T (p.Glu56Asp)
11g.8090111C>ACA379562700TUBc.133C>A (p.Pro45Thr)
c.298C>A (p.Pro100Thr)
c.151C>A (p.Pro51Thr)
c.259C>A (p.Pro87Thr)
c.169C>A (p.Pro57Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8090111C=CA1950953351TUBc.133C= (p.Pro45=)
c.298C= (p.Pro100=)
c.151C= (p.Pro51=)
c.259C= (p.Pro87=)
c.169C= (p.Pro57=)
11g.8090111C>GCA379562702TUBc.133C>G (p.Pro45Ala)
c.298C>G (p.Pro100Ala)
c.151C>G (p.Pro51Ala)
c.259C>G (p.Pro87Ala)
c.169C>G (p.Pro57Ala)
11g.8090111C>TCA379562704TUBc.133C>T (p.Pro45Ser)
c.298C>T (p.Pro100Ser)
c.151C>T (p.Pro51Ser)
c.259C>T (p.Pro87Ser)
c.169C>T (p.Pro57Ser)
11g.8090112C>ACA379562706TUBc.134C>A (p.Pro45His)
c.299C>A (p.Pro100His)
c.152C>A (p.Pro51His)
c.260C>A (p.Pro87His)
c.170C>A (p.Pro57His)
11g.8090112C=CA1950953355TUBc.134C= (p.Pro45=)
c.299C= (p.Pro100=)
c.152C= (p.Pro51=)
c.260C= (p.Pro87=)
c.170C= (p.Pro57=)
11g.8090112C>GCA379562711TUBc.134C>G (p.Pro45Arg)
c.299C>G (p.Pro100Arg)
c.152C>G (p.Pro51Arg)
c.260C>G (p.Pro87Arg)
c.170C>G (p.Pro57Arg)
11g.8090112C>TCA379562712TUBc.134C>T (p.Pro45Leu)
c.299C>T (p.Pro100Leu)
c.152C>T (p.Pro51Leu)
c.260C>T (p.Pro87Leu)
c.170C>T (p.Pro57Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.8090113C>ACA473009053TUBc.135C>A (p.Pro45=)
c.300C>A (p.Pro100=)
c.153C>A (p.Pro51=)
c.261C>A (p.Pro87=)
c.171C>A (p.Pro57=)
11g.8090113C>GCA473009054TUBc.135C>G (p.Pro45=)
c.300C>G (p.Pro100=)
c.153C>G (p.Pro51=)
c.261C>G (p.Pro87=)
c.171C>G (p.Pro57=)
 gnomAD v4
11g.8090113C>TCA473009055TUBc.135C>T (p.Pro45=)
c.300C>T (p.Pro100=)
c.153C>T (p.Pro51=)
c.261C>T (p.Pro87=)
c.171C>T (p.Pro57=)
11g.8090114C>ACA379562715TUBc.136C>A (p.Leu46Met)
c.301C>A (p.Leu101Met)
c.154C>A (p.Leu52Met)
c.262C>A (p.Leu88Met)
c.172C>A (p.Leu58Met)
11g.8090114C>GCA379562717TUBc.136C>G (p.Leu46Val)
c.301C>G (p.Leu101Val)
c.154C>G (p.Leu52Val)
c.262C>G (p.Leu88Val)
c.172C>G (p.Leu58Val)
11g.8090114C>TCA473009056TUBc.136C>T (p.Leu46=)
c.301C>T (p.Leu101=)
c.154C>T (p.Leu52=)
c.262C>T (p.Leu88=)
c.172C>T (p.Leu58=)
11g.8090115T>ACA379562720TUBc.137T>A (p.Leu46Gln)
c.302T>A (p.Leu101Gln)
c.155T>A (p.Leu52Gln)
c.263T>A (p.Leu88Gln)
c.173T>A (p.Leu58Gln)
11g.8090115T>CCA379562723TUBc.137T>C (p.Leu46Pro)
c.302T>C (p.Leu101Pro)
c.155T>C (p.Leu52Pro)
c.263T>C (p.Leu88Pro)
c.173T>C (p.Leu58Pro)
 gnomAD v4
11g.8090115T>GCA379562721TUBc.137T>G (p.Leu46Arg)
c.302T>G (p.Leu101Arg)
c.155T>G (p.Leu52Arg)
c.263T>G (p.Leu88Arg)
c.173T>G (p.Leu58Arg)
11g.8090116G>ACA473009057TUBc.138G>A (p.Leu46=)
c.303G>A (p.Leu101=)
c.156G>A (p.Leu52=)
c.264G>A (p.Leu88=)
c.174G>A (p.Leu58=)
11g.8090116G>CCA473009058TUBc.138G>C (p.Leu46=)
c.303G>C (p.Leu101=)
c.156G>C (p.Leu52=)
c.264G>C (p.Leu88=)
c.174G>C (p.Leu58=)
11g.8090116G>TCA473009059TUBc.138G>T (p.Leu46=)
c.303G>T (p.Leu101=)
c.156G>T (p.Leu52=)
c.264G>T (p.Leu88=)
c.174G>T (p.Leu58=)
11g.8090117A>CCA379562726TUBc.139A>C (p.Met47Leu)
c.304A>C (p.Met102Leu)
c.157A>C (p.Met53Leu)
c.265A>C (p.Met89Leu)
c.175A>C (p.Met59Leu)
11g.8090117A>GCA379562728TUBc.139A>G (p.Met47Val)
c.304A>G (p.Met102Val)
c.157A>G (p.Met53Val)
c.265A>G (p.Met89Val)
c.175A>G (p.Met59Val)
11g.8090117A>TCA379562729TUBc.139A>T (p.Met47Leu)
c.304A>T (p.Met102Leu)
c.157A>T (p.Met53Leu)
c.265A>T (p.Met89Leu)
c.175A>T (p.Met59Leu)
11g.8090118T>ACA379562731TUBc.140T>A (p.Met47Lys)
c.305T>A (p.Met102Lys)
c.158T>A (p.Met53Lys)
c.266T>A (p.Met89Lys)
c.176T>A (p.Met59Lys)
11g.8090118T>CCA379562733TUBc.140T>C (p.Met47Thr)
c.305T>C (p.Met102Thr)
c.158T>C (p.Met53Thr)
c.266T>C (p.Met89Thr)
c.176T>C (p.Met59Thr)
11g.8090118T>GCA379562735TUBc.140T>G (p.Met47Arg)
c.305T>G (p.Met102Arg)
c.158T>G (p.Met53Arg)
c.266T>G (p.Met89Arg)
c.176T>G (p.Met59Arg)
11g.8090120_8090122delCA2790351890TUBc.142_144del (p.Val48del)
c.307_309del (p.Val103del)
c.160_162del (p.Val54del)
c.268_270del (p.Val90del)
c.178_180del (p.Val60del)
11g.8090119G>ACA379562737TUBc.141G>A (p.Met47Ile)
c.306G>A (p.Met102Ile)
c.159G>A (p.Met53Ile)
c.267G>A (p.Met89Ile)
c.177G>A (p.Met59Ile)
11g.8090119G>CCA379562739TUBc.141G>C (p.Met47Ile)
c.306G>C (p.Met102Ile)
c.159G>C (p.Met53Ile)
c.267G>C (p.Met89Ile)
c.177G>C (p.Met59Ile)
11g.8090119G>TCA379562740TUBc.141G>T (p.Met47Ile)
c.306G>T (p.Met102Ile)
c.159G>T (p.Met53Ile)
c.267G>T (p.Met89Ile)
c.177G>T (p.Met59Ile)
11g.8090120G>ACA379562742TUBc.142G>A (p.Val48Met)
c.307G>A (p.Val103Met)
c.160G>A (p.Val54Met)
c.268G>A (p.Val90Met)
c.178G>A (p.Val60Met)
11g.8090120G>CCA379562745TUBc.142G>C (p.Val48Leu)
c.307G>C (p.Val103Leu)
c.160G>C (p.Val54Leu)
c.268G>C (p.Val90Leu)
c.178G>C (p.Val60Leu)
11g.8090120G>TCA379562747TUBc.142G>T (p.Val48Leu)
c.307G>T (p.Val103Leu)
c.160G>T (p.Val54Leu)
c.268G>T (p.Val90Leu)
c.178G>T (p.Val60Leu)
11g.8090121T>ACA379562751TUBc.143T>A (p.Val48Glu)
c.308T>A (p.Val103Glu)
c.161T>A (p.Val54Glu)
c.269T>A (p.Val90Glu)
c.179T>A (p.Val60Glu)
11g.8090121T>CCA5870971TUBc.143T>C (p.Val48Ala)
c.308T>C (p.Val103Ala)
c.161T>C (p.Val54Ala)
c.269T>C (p.Val90Ala)
c.179T>C (p.Val60Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090121T>GCA379562750TUBc.143T>G (p.Val48Gly)
c.308T>G (p.Val103Gly)
c.161T>G (p.Val54Gly)
c.269T>G (p.Val90Gly)
c.179T>G (p.Val60Gly)
11g.8090121T=CA1950953358TUBc.143T= (p.Val48=)
c.308T= (p.Val103=)
c.161T= (p.Val54=)
c.269T= (p.Val90=)
c.179T= (p.Val60=)
11g.8090122G>ACA473009060TUBc.144G>A (p.Val48=)
c.309G>A (p.Val103=)
c.162G>A (p.Val54=)
c.270G>A (p.Val90=)
c.180G>A (p.Val60=)
11g.8090122G>CCA473009061TUBc.144G>C (p.Val48=)
c.309G>C (p.Val103=)
c.162G>C (p.Val54=)
c.270G>C (p.Val90=)
c.180G>C (p.Val60=)
11g.8090122G>TCA473009062TUBc.144G>T (p.Val48=)
c.309G>T (p.Val103=)
c.162G>T (p.Val54=)
c.270G>T (p.Val90=)
c.180G>T (p.Val60=)
11g.8090123C>ACA379562755TUBc.145C>A (p.Gln49Lys)
c.310C>A (p.Gln104Lys)
c.163C>A (p.Gln55Lys)
c.271C>A (p.Gln91Lys)
c.181C>A (p.Gln61Lys)
11g.8090123C>GCA379562757TUBc.145C>G (p.Gln49Glu)
c.310C>G (p.Gln104Glu)
c.163C>G (p.Gln55Glu)
c.271C>G (p.Gln91Glu)
c.181C>G (p.Gln61Glu)
11g.8090123C>TCA379562759TUBc.145C>T (p.Gln49Ter)
c.310C>T (p.Gln104Ter)
c.163C>T (p.Gln55Ter)
c.271C>T (p.Gln91Ter)
c.181C>T (p.Gln61Ter)
 gnomAD v4
11g.8090124A>CCA379562761TUBc.146A>C (p.Gln49Pro)
c.311A>C (p.Gln104Pro)
c.164A>C (p.Gln55Pro)
c.272A>C (p.Gln91Pro)
c.182A>C (p.Gln61Pro)
11g.8090124A>GCA379562763TUBc.146A>G (p.Gln49Arg)
c.311A>G (p.Gln104Arg)
c.164A>G (p.Gln55Arg)
c.272A>G (p.Gln91Arg)
c.182A>G (p.Gln61Arg)
11g.8090124A>TCA379562765TUBc.146A>T (p.Gln49Leu)
c.311A>T (p.Gln104Leu)
c.164A>T (p.Gln55Leu)
c.272A>T (p.Gln91Leu)
c.182A>T (p.Gln61Leu)
11g.8090125G>ACA473009063TUBc.147G>A (p.Gln49=)
c.312G>A (p.Gln104=)
c.165G>A (p.Gln55=)
c.273G>A (p.Gln91=)
c.183G>A (p.Gln61=)
 ClinVar gnomAD v4
11g.8090125G>CCA379562768TUBc.147G>C (p.Gln49His)
c.312G>C (p.Gln104His)
c.165G>C (p.Gln55His)
c.273G>C (p.Gln91His)
c.183G>C (p.Gln61His)
11g.8090125G>TCA379562769TUBc.147G>T (p.Gln49His)
c.312G>T (p.Gln104His)
c.165G>T (p.Gln55His)
c.273G>T (p.Gln91His)
c.183G>T (p.Gln61His)
11g.8090126G>ACA379562771TUBc.148G>A (p.Ala50Thr)
c.313G>A (p.Ala105Thr)
c.166G>A (p.Ala56Thr)
c.274G>A (p.Ala92Thr)
c.184G>A (p.Ala62Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.8090126G>CCA379562773TUBc.148G>C (p.Ala50Pro)
c.313G>C (p.Ala105Pro)
c.166G>C (p.Ala56Pro)
c.274G>C (p.Ala92Pro)
c.184G>C (p.Ala62Pro)
11g.8090126G=CA1950953363TUBc.148G= (p.Ala50=)
c.313G= (p.Ala105=)
c.166G= (p.Ala56=)
c.274G= (p.Ala92=)
c.184G= (p.Ala62=)
11g.8090126G>TCA5870972TUBc.148G>T (p.Ala50Ser)
c.313G>T (p.Ala105Ser)
c.166G>T (p.Ala56Ser)
c.274G>T (p.Ala92Ser)
c.184G>T (p.Ala62Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090127C>ACA379562776TUBc.149C>A (p.Ala50Asp)
c.314C>A (p.Ala105Asp)
c.167C>A (p.Ala56Asp)
c.275C>A (p.Ala92Asp)
c.185C>A (p.Ala62Asp)
11g.8090127C=CA1950953369TUBc.149C= (p.Ala50=)
c.314C= (p.Ala105=)
c.167C= (p.Ala56=)
c.275C= (p.Ala92=)
c.185C= (p.Ala62=)
11g.8090127C>GCA379562777TUBc.149C>G (p.Ala50Gly)
c.314C>G (p.Ala105Gly)
c.167C>G (p.Ala56Gly)
c.275C>G (p.Ala92Gly)
c.185C>G (p.Ala62Gly)
 gnomAD v4
11g.8090127C>TCA5870973TUBc.149C>T (p.Ala50Val)
c.314C>T (p.Ala105Val)
c.167C>T (p.Ala56Val)
c.275C>T (p.Ala92Val)
c.185C>T (p.Ala62Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090128C>ACA5870974TUBc.150C>A (p.Ala50=)
c.315C>A (p.Ala105=)
c.168C>A (p.Ala56=)
c.276C>A (p.Ala92=)
c.186C>A (p.Ala62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090128C=CA1950953375TUBc.150C= (p.Ala50=)
c.315C= (p.Ala105=)
c.168C= (p.Ala56=)
c.276C= (p.Ala92=)
c.186C= (p.Ala62=)
11g.8090128C>GCA473009064TUBc.150C>G (p.Ala50=)
c.315C>G (p.Ala105=)
c.168C>G (p.Ala56=)
c.276C>G (p.Ala92=)
c.186C>G (p.Ala62=)
 dbSNP
11g.8090128C>TCA473009065TUBc.150C>T (p.Ala50=)
c.315C>T (p.Ala105=)
c.168C>T (p.Ala56=)
c.276C>T (p.Ala92=)
c.186C>T (p.Ala62=)
 dbSNP gnomAD v4
11g.8090129A>CCA379562783TUBc.151A>C (p.Asn51His)
c.316A>C (p.Asn106His)
c.169A>C (p.Asn57His)
c.277A>C (p.Asn93His)
c.187A>C (p.Asn63His)
11g.8090129A>GCA379562781TUBc.151A>G (p.Asn51Asp)
c.316A>G (p.Asn106Asp)
c.169A>G (p.Asn57Asp)
c.277A>G (p.Asn93Asp)
c.187A>G (p.Asn63Asp)
11g.8090129A>TCA379562784TUBc.151A>T (p.Asn51Tyr)
c.316A>T (p.Asn106Tyr)
c.169A>T (p.Asn57Tyr)
c.277A>T (p.Asn93Tyr)
c.187A>T (p.Asn63Tyr)
 COSMIC
11g.8090130A=CA1950953378TUBc.152A= (p.Asn51=)
c.317A= (p.Asn106=)
c.170A= (p.Asn57=)
c.278A= (p.Asn93=)
c.188A= (p.Asn63=)
11g.8090130A>CCA379562787TUBc.152A>C (p.Asn51Thr)
c.317A>C (p.Asn106Thr)
c.170A>C (p.Asn57Thr)
c.278A>C (p.Asn93Thr)
c.188A>C (p.Asn63Thr)
11g.8090130A>GCA379562790TUBc.152A>G (p.Asn51Ser)
c.317A>G (p.Asn106Ser)
c.170A>G (p.Asn57Ser)
c.278A>G (p.Asn93Ser)
c.188A>G (p.Asn63Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.8090130A>TCA379562789TUBc.152A>T (p.Asn51Ile)
c.317A>T (p.Asn106Ile)
c.170A>T (p.Asn57Ile)
c.278A>T (p.Asn93Ile)
c.188A>T (p.Asn63Ile)
 gnomAD v4
11g.8090131T>ACA379562791TUBc.153T>A (p.Asn51Lys)
c.318T>A (p.Asn106Lys)
c.171T>A (p.Asn57Lys)
c.279T>A (p.Asn93Lys)
c.189T>A (p.Asn63Lys)
11g.8090131T>CCA473009066TUBc.153T>C (p.Asn51=)
c.318T>C (p.Asn106=)
c.171T>C (p.Asn57=)
c.279T>C (p.Asn93=)
c.189T>C (p.Asn63=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8090131T>GCA5870975TUBc.153T>G (p.Asn51Lys)
c.318T>G (p.Asn106Lys)
c.171T>G (p.Asn57Lys)
c.279T>G (p.Asn93Lys)
c.189T>G (p.Asn63Lys)
 dbSNP ExAC gnomAD v2
11g.8090131T=CA1950953382TUBc.153T= (p.Asn51=)
c.318T= (p.Asn106=)
c.171T= (p.Asn57=)
c.279T= (p.Asn93=)
c.189T= (p.Asn63=)
11g.8090132G>ACA379562793TUBc.154G>A (p.Ala52Thr)
c.319G>A (p.Ala107Thr)
c.172G>A (p.Ala58Thr)
c.280G>A (p.Ala94Thr)
c.190G>A (p.Ala64Thr)
11g.8090132G>CCA379562795TUBc.154G>C (p.Ala52Pro)
c.319G>C (p.Ala107Pro)
c.172G>C (p.Ala58Pro)
c.280G>C (p.Ala94Pro)
c.190G>C (p.Ala64Pro)
11g.8090132G>TCA379562796TUBc.154G>T (p.Ala52Ser)
c.319G>T (p.Ala107Ser)
c.172G>T (p.Ala58Ser)
c.280G>T (p.Ala94Ser)
c.190G>T (p.Ala64Ser)
11g.8090133C>ACA379562798TUBc.155C>A (p.Ala52Glu)
c.320C>A (p.Ala107Glu)
c.173C>A (p.Ala58Glu)
c.281C>A (p.Ala94Glu)
c.191C>A (p.Ala64Glu)
11g.8090133C=CA1950953387TUBc.155C= (p.Ala52=)
c.320C= (p.Ala107=)
c.173C= (p.Ala58=)
c.281C= (p.Ala94=)
c.191C= (p.Ala64=)
11g.8090133C>GCA379562800TUBc.155C>G (p.Ala52Gly)
c.320C>G (p.Ala107Gly)
c.173C>G (p.Ala58Gly)
c.281C>G (p.Ala94Gly)
c.191C>G (p.Ala64Gly)
11g.8090133C>TCA379562801TUBc.155C>T (p.Ala52Val)
c.320C>T (p.Ala107Val)
c.173C>T (p.Ala58Val)
c.281C>T (p.Ala94Val)
c.191C>T (p.Ala64Val)
 dbSNP gnomAD v2 gnomAD v4
11g.8090134A=CA1950953391TUBc.156A= (p.Ala52=)
c.321A= (p.Ala107=)
c.174A= (p.Ala58=)
c.282A= (p.Ala94=)
c.192A= (p.Ala64=)
11g.8090134A>CCA473009067TUBc.156A>C (p.Ala52=)
c.321A>C (p.Ala107=)
c.174A>C (p.Ala58=)
c.282A>C (p.Ala94=)
c.192A>C (p.Ala64=)
 gnomAD v4
11g.8090134A>GCA473009068TUBc.156A>G (p.Ala52=)
c.321A>G (p.Ala107=)
c.174A>G (p.Ala58=)
c.282A>G (p.Ala94=)
c.192A>G (p.Ala64=)
11g.8090134A>TCA217415572TUBc.156A>T (p.Ala52=)
c.321A>T (p.Ala107=)
c.174A>T (p.Ala58=)
c.282A>T (p.Ala94=)
c.192A>T (p.Ala64=)
 dbSNP
11g.8090135G>ACA379562803TUBc.157G>A (p.Asp53Asn)
c.322G>A (p.Asp108Asn)
c.175G>A (p.Asp59Asn)
c.283G>A (p.Asp95Asn)
c.193G>A (p.Asp65Asn)
11g.8090135G>CCA379562805TUBc.157G>C (p.Asp53His)
c.322G>C (p.Asp108His)
c.175G>C (p.Asp59His)
c.283G>C (p.Asp95His)
c.193G>C (p.Asp65His)
11g.8090135G=CA1950953396TUBc.157G= (p.Asp53=)
c.322G= (p.Asp108=)
c.175G= (p.Asp59=)
c.283G= (p.Asp95=)
c.193G= (p.Asp65=)
11g.8090135G>TCA5870976TUBc.157G>T (p.Asp53Tyr)
c.322G>T (p.Asp108Tyr)
c.175G>T (p.Asp59Tyr)
c.283G>T (p.Asp95Tyr)
c.193G>T (p.Asp65Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090136A>CCA379562808TUBc.158A>C (p.Asp53Ala)
c.323A>C (p.Asp108Ala)
c.176A>C (p.Asp59Ala)
c.284A>C (p.Asp95Ala)
c.194A>C (p.Asp65Ala)
11g.8090136A>GCA379562809TUBc.158A>G (p.Asp53Gly)
c.323A>G (p.Asp108Gly)
c.176A>G (p.Asp59Gly)
c.284A>G (p.Asp95Gly)
c.194A>G (p.Asp65Gly)
 gnomAD v4
11g.8090136A>TCA379562811TUBc.158A>T (p.Asp53Val)
c.323A>T (p.Asp108Val)
c.176A>T (p.Asp59Val)
c.284A>T (p.Asp95Val)
c.194A>T (p.Asp65Val)
11g.8090137T>ACA379562813TUBc.159T>A (p.Asp53Glu)
c.324T>A (p.Asp108Glu)
c.177T>A (p.Asp59Glu)
c.285T>A (p.Asp95Glu)
c.195T>A (p.Asp65Glu)
11g.8090137T>CCA473009069TUBc.159T>C (p.Asp53=)
c.324T>C (p.Asp108=)
c.177T>C (p.Asp59=)
c.285T>C (p.Asp95=)
c.195T>C (p.Asp65=)
11g.8090137T>GCA379562815TUBc.159T>G (p.Asp53Glu)
c.324T>G (p.Asp108Glu)
c.177T>G (p.Asp59Glu)
c.285T>G (p.Asp95Glu)
c.195T>G (p.Asp65Glu)
11g.8090138G>ACA379562818TUBc.160G>A (p.Gly54Arg)
c.325G>A (p.Gly109Arg)
c.178G>A (p.Gly60Arg)
c.286G>A (p.Gly96Arg)
c.196G>A (p.Gly66Arg)
 gnomAD v4
11g.8090138G>CCA379562820TUBc.160G>C (p.Gly54Arg)
c.325G>C (p.Gly109Arg)
c.178G>C (p.Gly60Arg)
c.286G>C (p.Gly96Arg)
c.196G>C (p.Gly66Arg)
11g.8090138G>TCA379562822TUBc.160G>T (p.Gly54Trp)
c.325G>T (p.Gly109Trp)
c.178G>T (p.Gly60Trp)
c.286G>T (p.Gly96Trp)
c.196G>T (p.Gly66Trp)
11g.8090138_8090153delinsGGGCGGCCCCGGAGCCCA1950953402TUBc.160_175delinsGGGCGGCCCCGGAGCC (p.Gly54=)
c.325_340delinsGGGCGGCCCCGGAGCC (p.Gly109=)
c.178_193delinsGGGCGGCCCCGGAGCC (p.Gly60=)
c.286_301delinsGGGCGGCCCCGGAGCC (p.Gly96=)
c.196_211delinsGGGCGGCCCCGGAGCC (p.Gly66=)
11g.8090139G>ACA379562824TUBc.161G>A (p.Gly54Glu)
c.326G>A (p.Gly109Glu)
c.179G>A (p.Gly60Glu)
c.287G>A (p.Gly96Glu)
c.197G>A (p.Gly66Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.8090139G>CCA379562826TUBc.161G>C (p.Gly54Ala)
c.326G>C (p.Gly109Ala)
c.179G>C (p.Gly60Ala)
c.287G>C (p.Gly96Ala)
c.197G>C (p.Gly66Ala)
 gnomAD v4
11g.8090139G=CA1950953406TUBc.161G= (p.Gly54=)
c.326G= (p.Gly109=)
c.179G= (p.Gly60=)
c.287G= (p.Gly96=)
c.197G= (p.Gly66=)
11g.8090139G>TCA379562828TUBc.161G>T (p.Gly54Val)
c.326G>T (p.Gly109Val)
c.179G>T (p.Gly60Val)
c.287G>T (p.Gly96Val)
c.197G>T (p.Gly66Val)
 gnomAD v4
11g.8090144_8090158delCA680747440TUBc.166_180del (p.Pro56_Arg60del)
c.331_345del (p.Pro111_Arg115del)
c.184_198del (p.Pro62_Arg66del)
c.292_306del (p.Pro98_Arg102del)
c.202_216del (p.Pro68_Arg72del)
 dbSNP gnomAD v3 gnomAD v4
11g.8090140G>ACA473009070TUBc.162G>A (p.Gly54=)
c.327G>A (p.Gly109=)
c.180G>A (p.Gly60=)
c.288G>A (p.Gly96=)
c.198G>A (p.Gly66=)
11g.8090140G>CCA473009072TUBc.162G>C (p.Gly54=)
c.327G>C (p.Gly109=)
c.180G>C (p.Gly60=)
c.288G>C (p.Gly96=)
c.198G>C (p.Gly66=)
11g.8090140G>TCA473009071TUBc.162G>T (p.Gly54=)
c.327G>T (p.Gly109=)
c.180G>T (p.Gly60=)
c.288G>T (p.Gly96=)
c.198G>T (p.Gly66=)
11g.8090141C>ACA473009073TUBc.163C>A (p.Arg55=)
c.328C>A (p.Arg110=)
c.181C>A (p.Arg61=)
c.289C>A (p.Arg97=)
c.199C>A (p.Arg67=)
11g.8090141C=CA1950953411TUBc.163C= (p.Arg55=)
c.328C= (p.Arg110=)
c.181C= (p.Arg61=)
c.289C= (p.Arg97=)
c.199C= (p.Arg67=)
11g.8090141C>GCA379562831TUBc.163C>G (p.Arg55Gly)
c.328C>G (p.Arg110Gly)
c.181C>G (p.Arg61Gly)
c.289C>G (p.Arg97Gly)
c.199C>G (p.Arg67Gly)
11g.8090141C>TCA5870977TUBc.163C>T (p.Arg55Trp)
c.328C>T (p.Arg110Trp)
c.181C>T (p.Arg61Trp)
c.289C>T (p.Arg97Trp)
c.199C>T (p.Arg67Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090142G>ACA5870978TUBc.164G>A (p.Arg55Gln)
c.329G>A (p.Arg110Gln)
c.182G>A (p.Arg61Gln)
c.290G>A (p.Arg97Gln)
c.200G>A (p.Arg67Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090142G>CCA379562836TUBc.164G>C (p.Arg55Pro)
c.329G>C (p.Arg110Pro)
c.182G>C (p.Arg61Pro)
c.290G>C (p.Arg97Pro)
c.200G>C (p.Arg67Pro)
11g.8090142G=CA1950953421TUBc.164G= (p.Arg55=)
c.329G= (p.Arg110=)
c.182G= (p.Arg61=)
c.290G= (p.Arg97=)
c.200G= (p.Arg67=)
11g.8090142G>TCA379562838TUBc.164G>T (p.Arg55Leu)
c.329G>T (p.Arg110Leu)
c.182G>T (p.Arg61Leu)
c.290G>T (p.Arg97Leu)
c.200G>T (p.Arg67Leu)
11g.8090143G>ACA473009075TUBc.165G>A (p.Arg55=)
c.330G>A (p.Arg110=)
c.183G>A (p.Arg61=)
c.291G>A (p.Arg97=)
c.201G>A (p.Arg67=)
11g.8090143G>CCA473009076TUBc.165G>C (p.Arg55=)
c.330G>C (p.Arg110=)
c.183G>C (p.Arg61=)
c.291G>C (p.Arg97=)
c.201G>C (p.Arg67=)
11g.8090143G>TCA473009077TUBc.165G>T (p.Arg55=)
c.330G>T (p.Arg110=)
c.183G>T (p.Arg61=)
c.291G>T (p.Arg97=)
c.201G>T (p.Arg67=)
11g.8090144C>ACA379562839TUBc.166C>A (p.Pro56Thr)
c.331C>A (p.Pro111Thr)
c.184C>A (p.Pro62Thr)
c.292C>A (p.Pro98Thr)
c.202C>A (p.Pro68Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8090144C=CA1950953423TUBc.166C= (p.Pro56=)
c.331C= (p.Pro111=)
c.184C= (p.Pro62=)
c.292C= (p.Pro98=)
c.202C= (p.Pro68=)
11g.8090144C>GCA379562842TUBc.166C>G (p.Pro56Ala)
c.331C>G (p.Pro111Ala)
c.184C>G (p.Pro62Ala)
c.292C>G (p.Pro98Ala)
c.202C>G (p.Pro68Ala)
11g.8090144C>TCA5870979TUBc.166C>T (p.Pro56Ser)
c.331C>T (p.Pro111Ser)
c.184C>T (p.Pro62Ser)
c.292C>T (p.Pro98Ser)
c.202C>T (p.Pro68Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090145C>ACA379562844TUBc.167C>A (p.Pro56His)
c.332C>A (p.Pro111His)
c.185C>A (p.Pro62His)
c.293C>A (p.Pro98His)
c.203C>A (p.Pro68His)
11g.8090145C=CA1950953426TUBc.167C= (p.Pro56=)
c.332C= (p.Pro111=)
c.185C= (p.Pro62=)
c.293C= (p.Pro98=)
c.203C= (p.Pro68=)
11g.8090145C>GCA379562846TUBc.167C>G (p.Pro56Arg)
c.332C>G (p.Pro111Arg)
c.185C>G (p.Pro62Arg)
c.293C>G (p.Pro98Arg)
c.203C>G (p.Pro68Arg)
11g.8090145C>TCA379562848TUBc.167C>T (p.Pro56Leu)
c.332C>T (p.Pro111Leu)
c.185C>T (p.Pro62Leu)
c.293C>T (p.Pro98Leu)
c.203C>T (p.Pro68Leu)
 gnomAD v4
11g.8090150_8090164delCA2612330585TUBc.172_186del (p.Ser58_Arg62del)
c.337_351del (p.Ser113_Arg117del)
c.190_204del (p.Ser64_Arg68del)
c.298_312del (p.Ser100_Arg104del)
c.208_222del (p.Ser70_Arg74del)
 gnomAD v4
11g.8090146C>ACA473009078TUBc.168C>A (p.Pro56=)
c.333C>A (p.Pro111=)
c.186C>A (p.Pro62=)
c.294C>A (p.Pro98=)
c.204C>A (p.Pro68=)
11g.8090146C=CA1950953431TUBc.168C= (p.Pro56=)
c.333C= (p.Pro111=)
c.186C= (p.Pro62=)
c.294C= (p.Pro98=)
c.204C= (p.Pro68=)
11g.8090146C>GCA473009079TUBc.168C>G (p.Pro56=)
c.333C>G (p.Pro111=)
c.186C>G (p.Pro62=)
c.294C>G (p.Pro98=)
c.204C>G (p.Pro68=)
11g.8090146C>TCA217415581TUBc.168C>T (p.Pro56=)
c.333C>T (p.Pro111=)
c.186C>T (p.Pro62=)
c.294C>T (p.Pro98=)
c.204C>T (p.Pro68=)
 dbSNP gnomAD v2 gnomAD v4
11g.8090150_8090155dupCA5870980TUBc.172_177dup (p.Arg59_Arg60insSerArg)
c.337_342dup (p.Arg114_Arg115insSerArg)
c.190_195dup (p.Arg65_Arg66insSerArg)
c.298_303dup (p.Arg101_Arg102insSerArg)
c.208_213dup (p.Arg71_Arg72insSerArg)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090147C>ACA473009080TUBc.169C>A (p.Arg57=)
c.334C>A (p.Arg112=)
c.187C>A (p.Arg63=)
c.295C>A (p.Arg99=)
c.205C>A (p.Arg69=)
 gnomAD v4
11g.8090147C=CA1950953436TUBc.169C= (p.Arg57=)
c.334C= (p.Arg112=)
c.187C= (p.Arg63=)
c.295C= (p.Arg99=)
c.205C= (p.Arg69=)
11g.8090147C>GCA379562851TUBc.169C>G (p.Arg57Gly)
c.334C>G (p.Arg112Gly)
c.187C>G (p.Arg63Gly)
c.295C>G (p.Arg99Gly)
c.205C>G (p.Arg69Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.8090147C>TCA379562853TUBc.169C>T (p.Arg57Trp)
c.334C>T (p.Arg112Trp)
c.187C>T (p.Arg63Trp)
c.295C>T (p.Arg99Trp)
c.205C>T (p.Arg69Trp)
 dbSNP gnomAD v4 COSMIC
11g.8090148G>ACA5870981TUBc.170G>A (p.Arg57Gln)
c.335G>A (p.Arg112Gln)
c.188G>A (p.Arg63Gln)
c.296G>A (p.Arg99Gln)
c.206G>A (p.Arg69Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090148G>CCA379562856TUBc.170G>C (p.Arg57Pro)
c.335G>C (p.Arg112Pro)
c.188G>C (p.Arg63Pro)
c.296G>C (p.Arg99Pro)
c.206G>C (p.Arg69Pro)
11g.8090148G=CA1950953441TUBc.170G= (p.Arg57=)
c.335G= (p.Arg112=)
c.188G= (p.Arg63=)
c.296G= (p.Arg99=)
c.206G= (p.Arg69=)
11g.8090148G>TCA379562858TUBc.170G>T (p.Arg57Leu)
c.335G>T (p.Arg112Leu)
c.188G>T (p.Arg63Leu)
c.296G>T (p.Arg99Leu)
c.206G>T (p.Arg69Leu)
 dbSNP
11g.8090148_8090149delinsAACA217415589TUBc.170_171delinsAA (p.Arg57Gln)
c.335_336delinsAA (p.Arg112Gln)
c.188_189delinsAA (p.Arg63Gln)
c.296_297delinsAA (p.Arg99Gln)
c.206_207delinsAA (p.Arg69Gln)
 dbSNP
11g.8090148_8090149delinsGGCA1950953445TUBc.170_171delinsGG (p.Arg57=)
c.335_336delinsGG (p.Arg112=)
c.188_189delinsGG (p.Arg63=)
c.296_297delinsGG (p.Arg99=)
c.206_207delinsGG (p.Arg69=)
11g.8090149G>ACA5870982TUBc.171G>A (p.Arg57=)
c.336G>A (p.Arg112=)
c.189G>A (p.Arg63=)
c.297G>A (p.Arg99=)
c.207G>A (p.Arg69=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090149G>CCA473009081TUBc.171G>C (p.Arg57=)
c.336G>C (p.Arg112=)
c.189G>C (p.Arg63=)
c.297G>C (p.Arg99=)
c.207G>C (p.Arg69=)
11g.8090149G=CA1950953449TUBc.171G= (p.Arg57=)
c.336G= (p.Arg112=)
c.189G= (p.Arg63=)
c.297G= (p.Arg99=)
c.207G= (p.Arg69=)
11g.8090149G>TCA473009082TUBc.171G>T (p.Arg57=)
c.336G>T (p.Arg112=)
c.189G>T (p.Arg63=)
c.297G>T (p.Arg99=)
c.207G>T (p.Arg69=)
11g.8090150A=CA1950953452TUBc.172A= (p.Ser58=)
c.337A= (p.Ser113=)
c.190A= (p.Ser64=)
c.298A= (p.Ser100=)
c.208A= (p.Ser70=)
11g.8090150A>CCA379562865TUBc.172A>C (p.Ser58Arg)
c.337A>C (p.Ser113Arg)
c.190A>C (p.Ser64Arg)
c.298A>C (p.Ser100Arg)
c.208A>C (p.Ser70Arg)
11g.8090150A>GCA379562863TUBc.172A>G (p.Ser58Gly)
c.337A>G (p.Ser113Gly)
c.190A>G (p.Ser64Gly)
c.298A>G (p.Ser100Gly)
c.208A>G (p.Ser70Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8090150A>TCA379562861TUBc.172A>T (p.Ser58Cys)
c.337A>T (p.Ser113Cys)
c.190A>T (p.Ser64Cys)
c.298A>T (p.Ser100Cys)
c.208A>T (p.Ser70Cys)
11g.8090151G>ACA379562866TUBc.173G>A (p.Ser58Asn)
c.338G>A (p.Ser113Asn)
c.191G>A (p.Ser64Asn)
c.299G>A (p.Ser100Asn)
c.209G>A (p.Ser70Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.8090151G>CCA379562868TUBc.173G>C (p.Ser58Thr)
c.338G>C (p.Ser113Thr)
c.191G>C (p.Ser64Thr)
c.299G>C (p.Ser100Thr)
c.209G>C (p.Ser70Thr)
11g.8090151G=CA1950953455TUBc.173G= (p.Ser58=)
c.338G= (p.Ser113=)
c.191G= (p.Ser64=)
c.299G= (p.Ser100=)
c.209G= (p.Ser70=)
11g.8090151G>TCA379562870TUBc.173G>T (p.Ser58Ile)
c.338G>T (p.Ser113Ile)
c.191G>T (p.Ser64Ile)
c.299G>T (p.Ser100Ile)
c.209G>T (p.Ser70Ile)
11g.8090152C>ACA379562871TUBc.174C>A (p.Ser58Arg)
c.339C>A (p.Ser113Arg)
c.192C>A (p.Ser64Arg)
c.300C>A (p.Ser100Arg)
c.210C>A (p.Ser70Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8090152C=CA1950953461TUBc.174C= (p.Ser58=)
c.339C= (p.Ser113=)
c.192C= (p.Ser64=)
c.300C= (p.Ser100=)
c.210C= (p.Ser70=)
11g.8090152C>GCA379562873TUBc.174C>G (p.Ser58Arg)
c.339C>G (p.Ser113Arg)
c.192C>G (p.Ser64Arg)
c.300C>G (p.Ser100Arg)
c.210C>G (p.Ser70Arg)
11g.8090152C>TCA473009083TUBc.174C>T (p.Ser58=)
c.339C>T (p.Ser113=)
c.192C>T (p.Ser64=)
c.300C>T (p.Ser100=)
c.210C>T (p.Ser70=)
 gnomAD v4
11g.8090153C>ACA473009084TUBc.175C>A (p.Arg59=)
c.340C>A (p.Arg114=)
c.193C>A (p.Arg65=)
c.301C>A (p.Arg101=)
c.211C>A (p.Arg71=)
11g.8090153C=CA1950953466TUBc.175C= (p.Arg59=)
c.340C= (p.Arg114=)
c.193C= (p.Arg65=)
c.301C= (p.Arg101=)
c.211C= (p.Arg71=)
11g.8090153C>GCA379562875TUBc.175C>G (p.Arg59Gly)
c.340C>G (p.Arg114Gly)
c.193C>G (p.Arg65Gly)
c.301C>G (p.Arg101Gly)
c.211C>G (p.Arg71Gly)
11g.8090153C>TCA5870983TUBc.175C>T (p.Arg59Trp)
c.340C>T (p.Arg114Trp)
c.193C>T (p.Arg65Trp)
c.301C>T (p.Arg101Trp)
c.211C>T (p.Arg71Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090154G>ACA5870984TUBc.176G>A (p.Arg59Gln)
c.341G>A (p.Arg114Gln)
c.194G>A (p.Arg65Gln)
c.302G>A (p.Arg101Gln)
c.212G>A (p.Arg71Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.8090154G>CCA379562880TUBc.176G>C (p.Arg59Pro)
c.341G>C (p.Arg114Pro)
c.194G>C (p.Arg65Pro)
c.302G>C (p.Arg101Pro)
c.212G>C (p.Arg71Pro)
11g.8090154G=CA1950953470TUBc.176G= (p.Arg59=)
c.341G= (p.Arg114=)
c.194G= (p.Arg65=)
c.302G= (p.Arg101=)
c.212G= (p.Arg71=)
11g.8090154G>TCA379562881TUBc.176G>T (p.Arg59Leu)
c.341G>T (p.Arg114Leu)
c.194G>T (p.Arg65Leu)
c.302G>T (p.Arg101Leu)
c.212G>T (p.Arg71Leu)
11g.8090155G>ACA473009085TUBc.177G>A (p.Arg59=)
c.342G>A (p.Arg114=)
c.195G>A (p.Arg65=)
c.303G>A (p.Arg101=)
c.213G>A (p.Arg71=)
 gnomAD v4
11g.8090155G>CCA473009086TUBc.177G>C (p.Arg59=)
c.342G>C (p.Arg114=)
c.195G>C (p.Arg65=)
c.303G>C (p.Arg101=)
c.213G>C (p.Arg71=)
 dbSNP gnomAD v2
11g.8090155G=CA1950953472TUBc.177G= (p.Arg59=)
c.342G= (p.Arg114=)
c.195G= (p.Arg65=)
c.303G= (p.Arg101=)
c.213G= (p.Arg71=)
11g.8090155G>TCA473009087TUBc.177G>T (p.Arg59=)
c.342G>T (p.Arg114=)
c.195G>T (p.Arg65=)
c.303G>T (p.Arg101=)
c.213G>T (p.Arg71=)
11g.8090156C>ACA473009088TUBc.178C>A (p.Arg60=)
c.343C>A (p.Arg115=)
c.196C>A (p.Arg66=)
c.304C>A (p.Arg102=)
c.214C>A (p.Arg72=)
 dbSNP gnomAD v3 gnomAD v4
11g.8090156C=CA1950953475TUBc.178C= (p.Arg60=)
c.343C= (p.Arg115=)
c.196C= (p.Arg66=)
c.304C= (p.Arg102=)
c.214C= (p.Arg72=)
11g.8090156C>GCA379562884TUBc.178C>G (p.Arg60Gly)
c.343C>G (p.Arg115Gly)
c.196C>G (p.Arg66Gly)
c.304C>G (p.Arg102Gly)
c.214C>G (p.Arg72Gly)
11g.8090156C>TCA379562885TUBc.178C>T (p.Arg60Trp)
c.343C>T (p.Arg115Trp)
c.196C>T (p.Arg66Trp)
c.304C>T (p.Arg102Trp)
c.214C>T (p.Arg72Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8090157G>ACA5870985TUBc.179G>A (p.Arg60Gln)
c.344G>A (p.Arg115Gln)
c.197G>A (p.Arg66Gln)
c.305G>A (p.Arg102Gln)
c.215G>A (p.Arg72Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.8090157G>CCA379562890TUBc.179G>C (p.Arg60Pro)
c.344G>C (p.Arg115Pro)
c.197G>C (p.Arg66Pro)
c.305G>C (p.Arg102Pro)
c.215G>C (p.Arg72Pro)
11g.8090157G=CA1950953478TUBc.179G= (p.Arg60=)
c.344G= (p.Arg115=)
c.197G= (p.Arg66=)
c.305G= (p.Arg102=)
c.215G= (p.Arg72=)
11g.8090157G>TCA379562887TUBc.179G>T (p.Arg60Leu)
c.344G>T (p.Arg115Leu)
c.197G>T (p.Arg66Leu)
c.305G>T (p.Arg102Leu)
c.215G>T (p.Arg72Leu)
11g.8090158G>ACA473009089TUBc.180G>A (p.Arg60=)
c.345G>A (p.Arg115=)
c.198G>A (p.Arg66=)
c.306G>A (p.Arg102=)
c.216G>A (p.Arg72=)
11g.8090158G>CCA473009090TUBc.180G>C (p.Arg60=)
c.345G>C (p.Arg115=)
c.198G>C (p.Arg66=)
c.306G>C (p.Arg102=)
c.216G>C (p.Arg72=)
11g.8090158G>TCA473009091TUBc.180G>T (p.Arg60=)
c.345G>T (p.Arg115=)
c.198G>T (p.Arg66=)
c.306G>T (p.Arg102=)
c.216G>T (p.Arg72=)
 gnomAD v4
11g.8090159G>ACA379562896TUBc.181G>A (p.Ala61Thr)
c.346G>A (p.Ala116Thr)
c.199G>A (p.Ala67Thr)
c.307G>A (p.Ala103Thr)
c.217G>A (p.Ala73Thr)
 gnomAD v4
11g.8090159G>CCA379562892TUBc.181G>C (p.Ala61Pro)
c.346G>C (p.Ala116Pro)
c.199G>C (p.Ala67Pro)
c.307G>C (p.Ala103Pro)
c.217G>C (p.Ala73Pro)
11g.8090159G>TCA379562894TUBc.181G>T (p.Ala61Ser)
c.346G>T (p.Ala116Ser)
c.199G>T (p.Ala67Ser)
c.307G>T (p.Ala103Ser)
c.217G>T (p.Ala73Ser)
11g.8090159_8090160delinsGCCA1950953481TUBc.181_182delinsGC (p.Ala61=)
c.346_347delinsGC (p.Ala116=)
c.199_200delinsGC (p.Ala67=)
c.307_308delinsGC (p.Ala103=)
c.217_218delinsGC (p.Ala73=)
11g.8090160C>ACA379562899TUBc.182C>A (p.Ala61Asp)
c.347C>A (p.Ala116Asp)
c.200C>A (p.Ala67Asp)
c.308C>A (p.Ala103Asp)
c.218C>A (p.Ala73Asp)
11g.8090160C>GCA379562900TUBc.182C>G (p.Ala61Gly)
c.347C>G (p.Ala116Gly)
c.200C>G (p.Ala67Gly)
c.308C>G (p.Ala103Gly)
c.218C>G (p.Ala73Gly)
11g.8090160C>TCA379562901TUBc.182C>T (p.Ala61Val)
c.347C>T (p.Ala116Val)
c.200C>T (p.Ala67Val)
c.308C>T (p.Ala103Val)
c.218C>T (p.Ala73Val)
 gnomAD v4
11g.8090162delCA680747486TUBc.184del (p.Arg62GlyfsTer?)
c.349del (p.Arg117GlyfsTer?)
c.202del (p.Arg68GlyfsTer?)
c.310del (p.Arg104GlyfsTer?)
c.220del (p.Arg74GlyfsTer?)
 dbSNP
11g.8090161C>ACA473009092TUBc.183C>A (p.Ala61=)
c.348C>A (p.Ala116=)
c.201C>A (p.Ala67=)
c.309C>A (p.Ala103=)
c.219C>A (p.Ala73=)
11g.8090161C=CA1950953487TUBc.183C= (p.Ala61=)
c.348C= (p.Ala116=)
c.201C= (p.Ala67=)
c.309C= (p.Ala103=)
c.219C= (p.Ala73=)
11g.8090161C>GCA473009093TUBc.183C>G (p.Ala61=)
c.348C>G (p.Ala116=)
c.201C>G (p.Ala67=)
c.309C>G (p.Ala103=)
c.219C>G (p.Ala73=)
11g.8090161C>TCA217415615TUBc.183C>T (p.Ala61=)
c.348C>T (p.Ala116=)
c.201C>T (p.Ala67=)
c.309C>T (p.Ala103=)
c.219C>T (p.Ala73=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8090162C>ACA5870987TUBc.184C>A (p.Arg62=)
c.349C>A (p.Arg117=)
c.202C>A (p.Arg68=)
c.310C>A (p.Arg104=)
c.220C>A (p.Arg74=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090162C=CA1950953492TUBc.184C= (p.Arg62=)
c.349C= (p.Arg117=)
c.202C= (p.Arg68=)
c.310C= (p.Arg104=)
c.220C= (p.Arg74=)
11g.8090162C>GCA379562908TUBc.184C>G (p.Arg62Gly)
c.349C>G (p.Arg117Gly)
c.202C>G (p.Arg68Gly)
c.310C>G (p.Arg104Gly)
c.220C>G (p.Arg74Gly)
 gnomAD v4
11g.8090162C>TCA5870986TUBc.184C>T (p.Arg62Trp)
c.349C>T (p.Arg117Trp)
c.202C>T (p.Arg68Trp)
c.310C>T (p.Arg104Trp)
c.220C>T (p.Arg74Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090163G>ACA5870989TUBc.185G>A (p.Arg62Gln)
c.350G>A (p.Arg117Gln)
c.203G>A (p.Arg68Gln)
c.311G>A (p.Arg104Gln)
c.221G>A (p.Arg74Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090163G>CCA379562912TUBc.185G>C (p.Arg62Pro)
c.350G>C (p.Arg117Pro)
c.203G>C (p.Arg68Pro)
c.311G>C (p.Arg104Pro)
c.221G>C (p.Arg74Pro)
 gnomAD v4
11g.8090163G=CA1950953497TUBc.185G= (p.Arg62=)
c.350G= (p.Arg117=)
c.203G= (p.Arg68=)
c.311G= (p.Arg104=)
c.221G= (p.Arg74=)
11g.8090163G>TCA5870988TUBc.185G>T (p.Arg62Leu)
c.350G>T (p.Arg117Leu)
c.203G>T (p.Arg68Leu)
c.311G>T (p.Arg104Leu)
c.221G>T (p.Arg74Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090164G>ACA473009094TUBc.186G>A (p.Arg62=)
c.351G>A (p.Arg117=)
c.204G>A (p.Arg68=)
c.312G>A (p.Arg104=)
c.222G>A (p.Arg74=)
11g.8090164G>CCA473009096TUBc.186G>C (p.Arg62=)
c.351G>C (p.Arg117=)
c.204G>C (p.Arg68=)
c.312G>C (p.Arg104=)
c.222G>C (p.Arg74=)
11g.8090164G>TCA473009095TUBc.186G>T (p.Arg62=)
c.351G>T (p.Arg117=)
c.204G>T (p.Arg68=)
c.312G>T (p.Arg104=)
c.222G>T (p.Arg74=)
11g.8090164_8090165delinsGCCA1950953499TUBc.186_187delinsGC (p.Arg62=)
c.351_352delinsGC (p.Arg117=)
c.204_205delinsGC (p.Arg68=)
c.312_313delinsGC (p.Arg104=)
c.222_223delinsGC (p.Arg74=)
11g.8090165delCA5870990TUBc.187del (p.Gln63SerfsTer?)
c.352del (p.Gln118SerfsTer?)
c.205del (p.Gln69SerfsTer?)
c.313del (p.Gln105SerfsTer?)
c.223del (p.Gln75SerfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090165C>ACA379562920TUBc.187C>A (p.Gln63Lys)
c.352C>A (p.Gln118Lys)
c.205C>A (p.Gln69Lys)
c.313C>A (p.Gln105Lys)
c.223C>A (p.Gln75Lys)
11g.8090165C>GCA379562917TUBc.187C>G (p.Gln63Glu)
c.352C>G (p.Gln118Glu)
c.205C>G (p.Gln69Glu)
c.313C>G (p.Gln105Glu)
c.223C>G (p.Gln75Glu)
11g.8090165C>TCA379562916TUBc.187C>T (p.Gln63Ter)
c.352C>T (p.Gln118Ter)
c.205C>T (p.Gln69Ter)
c.313C>T (p.Gln105Ter)
c.223C>T (p.Gln75Ter)
11g.8090166A>CCA379562923TUBc.188A>C (p.Gln63Pro)
c.353A>C (p.Gln118Pro)
c.206A>C (p.Gln69Pro)
c.314A>C (p.Gln105Pro)
c.224A>C (p.Gln75Pro)
11g.8090166A>GCA379562924TUBc.188A>G (p.Gln63Arg)
c.353A>G (p.Gln118Arg)
c.206A>G (p.Gln69Arg)
c.314A>G (p.Gln105Arg)
c.224A>G (p.Gln75Arg)
11g.8090166A>TCA379562926TUBc.188A>T (p.Gln63Leu)
c.353A>T (p.Gln118Leu)
c.206A>T (p.Gln69Leu)
c.314A>T (p.Gln105Leu)
c.224A>T (p.Gln75Leu)
11g.8090167G>ACA473009097TUBc.189G>A (p.Gln63=)
c.354G>A (p.Gln118=)
c.207G>A (p.Gln69=)
c.315G>A (p.Gln105=)
c.225G>A (p.Gln75=)
11g.8090167G>CCA379562928TUBc.189G>C (p.Gln63His)
c.354G>C (p.Gln118His)
c.207G>C (p.Gln69His)
c.315G>C (p.Gln105His)
c.225G>C (p.Gln75His)
11g.8090167G>TCA379562930TUBc.189G>T (p.Gln63His)
c.354G>T (p.Gln118His)
c.207G>T (p.Gln69His)
c.315G>T (p.Gln105His)
c.225G>T (p.Gln75His)
 ClinVar dbSNP
11g.8090168T>ACA379562932TUBc.190T>A (p.Ser64Thr)
c.355T>A (p.Ser119Thr)
c.208T>A (p.Ser70Thr)
c.316T>A (p.Ser106Thr)
c.226T>A (p.Ser76Thr)
11g.8090168T>CCA5870991TUBc.190T>C (p.Ser64Pro)
c.355T>C (p.Ser119Pro)
c.208T>C (p.Ser70Pro)
c.316T>C (p.Ser106Pro)
c.226T>C (p.Ser76Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090168T>GCA379562935TUBc.190T>G (p.Ser64Ala)
c.355T>G (p.Ser119Ala)
c.208T>G (p.Ser70Ala)
c.316T>G (p.Ser106Ala)
c.226T>G (p.Ser76Ala)
 dbSNP
11g.8090168T=CA1950953504TUBc.190T= (p.Ser64=)
c.355T= (p.Ser119=)
c.208T= (p.Ser70=)
c.316T= (p.Ser106=)
c.226T= (p.Ser76=)
11g.8090169C>ACA379562938TUBc.191C>A (p.Ser64Ter)
c.356C>A (p.Ser119Ter)
c.209C>A (p.Ser70Ter)
c.317C>A (p.Ser106Ter)
c.227C>A (p.Ser76Ter)
11g.8090169C>GCA379562940TUBc.191C>G (p.Ser64Ter)
c.356C>G (p.Ser119Ter)
c.209C>G (p.Ser70Ter)
c.317C>G (p.Ser106Ter)
c.227C>G (p.Ser76Ter)
11g.8090169C>TCA379562942TUBc.191C>T (p.Ser64Leu)
c.356C>T (p.Ser119Leu)
c.209C>T (p.Ser70Leu)
c.317C>T (p.Ser106Leu)
c.227C>T (p.Ser76Leu)
 gnomAD v4
11g.8090170A>CCA473009098TUBc.192A>C (p.Ser64=)
c.357A>C (p.Ser119=)
c.210A>C (p.Ser70=)
c.318A>C (p.Ser106=)
c.228A>C (p.Ser76=)
11g.8090170A>GCA473009099TUBc.192A>G (p.Ser64=)
c.357A>G (p.Ser119=)
c.210A>G (p.Ser70=)
c.318A>G (p.Ser106=)
c.228A>G (p.Ser76=)
11g.8090170A>TCA473009100TUBc.192A>T (p.Ser64=)
c.357A>T (p.Ser119=)
c.210A>T (p.Ser70=)
c.318A>T (p.Ser106=)
c.228A>T (p.Ser76=)
11g.8090171G>ACA379562949TUBc.193G>A (p.Glu65Lys)
c.358G>A (p.Glu120Lys)
c.211G>A (p.Glu71Lys)
c.319G>A (p.Glu107Lys)
c.229G>A (p.Glu77Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.8090171G>CCA379562946TUBc.193G>C (p.Glu65Gln)
c.358G>C (p.Glu120Gln)
c.211G>C (p.Glu71Gln)
c.319G>C (p.Glu107Gln)
c.229G>C (p.Glu77Gln)
11g.8090171G=CA1950953508TUBc.193G= (p.Glu65=)
c.358G= (p.Glu120=)
c.211G= (p.Glu71=)
c.319G= (p.Glu107=)
c.229G= (p.Glu77=)
11g.8090171G>TCA379562944TUBc.193G>T (p.Glu65Ter)
c.358G>T (p.Glu120Ter)
c.211G>T (p.Glu71Ter)
c.319G>T (p.Glu107Ter)
c.229G>T (p.Glu77Ter)
11g.8090172A>CCA379562951TUBc.194A>C (p.Glu65Ala)
c.359A>C (p.Glu120Ala)
c.212A>C (p.Glu71Ala)
c.320A>C (p.Glu107Ala)
c.230A>C (p.Glu77Ala)
11g.8090172A>GCA379562953TUBc.194A>G (p.Glu65Gly)
c.359A>G (p.Glu120Gly)
c.212A>G (p.Glu71Gly)
c.320A>G (p.Glu107Gly)
c.230A>G (p.Glu77Gly)
 gnomAD v4
11g.8090172A>TCA379562955TUBc.194A>T (p.Glu65Val)
c.359A>T (p.Glu120Val)
c.212A>T (p.Glu71Val)
c.320A>T (p.Glu107Val)
c.230A>T (p.Glu77Val)
11g.8090173G>ACA473009101TUBc.195G>A (p.Glu65=)
c.360G>A (p.Glu120=)
c.213G>A (p.Glu71=)
c.321G>A (p.Glu107=)
c.231G>A (p.Glu77=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.8090173G>CCA379562958TUBc.195G>C (p.Glu65Asp)
c.360G>C (p.Glu120Asp)
c.213G>C (p.Glu71Asp)
c.321G>C (p.Glu107Asp)
c.231G>C (p.Glu77Asp)
11g.8090173G=CA1950953511TUBc.195G= (p.Glu65=)
c.360G= (p.Glu120=)
c.213G= (p.Glu71=)
c.321G= (p.Glu107=)
c.231G= (p.Glu77=)
11g.8090173G>TCA379562959TUBc.195G>T (p.Glu65Asp)
c.360G>T (p.Glu120Asp)
c.213G>T (p.Glu71Asp)
c.321G>T (p.Glu107Asp)
c.231G>T (p.Glu77Asp)
11g.8090174G>ACA379562961TUBc.196G>A (p.Glu66Lys)
c.361G>A (p.Glu121Lys)
c.214G>A (p.Glu72Lys)
c.322G>A (p.Glu108Lys)
c.232G>A (p.Glu78Lys)
11g.8090174G>CCA379562963TUBc.196G>C (p.Glu66Gln)
c.361G>C (p.Glu121Gln)
c.214G>C (p.Glu72Gln)
c.322G>C (p.Glu108Gln)
c.232G>C (p.Glu78Gln)
11g.8090174G>TCA379562965TUBc.196G>T (p.Glu66Ter)
c.361G>T (p.Glu121Ter)
c.214G>T (p.Glu72Ter)
c.322G>T (p.Glu108Ter)
c.232G>T (p.Glu78Ter)
11g.8090175A>CCA379562968TUBc.197A>C (p.Glu66Ala)
c.362A>C (p.Glu121Ala)
c.215A>C (p.Glu72Ala)
c.323A>C (p.Glu108Ala)
c.233A>C (p.Glu78Ala)
11g.8090175A>GCA379562969TUBc.197A>G (p.Glu66Gly)
c.362A>G (p.Glu121Gly)
c.215A>G (p.Glu72Gly)
c.323A>G (p.Glu108Gly)
c.233A>G (p.Glu78Gly)
11g.8090175A>TCA379562970TUBc.197A>T (p.Glu66Val)
c.362A>T (p.Glu121Val)
c.215A>T (p.Glu72Val)
c.323A>T (p.Glu108Val)
c.233A>T (p.Glu78Val)
11g.8090176A>CCA379562972TUBc.198A>C (p.Glu66Asp)
c.363A>C (p.Glu121Asp)
c.216A>C (p.Glu72Asp)
c.324A>C (p.Glu108Asp)
c.234A>C (p.Glu78Asp)
11g.8090176A>GCA473009102TUBc.198A>G (p.Glu66=)
c.363A>G (p.Glu121=)
c.216A>G (p.Glu72=)
c.324A>G (p.Glu108=)
c.234A>G (p.Glu78=)
 COSMIC
11g.8090176A>TCA379562974TUBc.198A>T (p.Glu66Asp)
c.363A>T (p.Glu121Asp)
c.216A>T (p.Glu72Asp)
c.324A>T (p.Glu108Asp)
c.234A>T (p.Glu78Asp)
11g.8090177C>ACA379562981TUBc.199C>A (p.Gln67Lys)
c.364C>A (p.Gln122Lys)
c.217C>A (p.Gln73Lys)
c.325C>A (p.Gln109Lys)
c.235C>A (p.Gln79Lys)
 dbSNP gnomAD v4
11g.8090177C=CA1950953514TUBc.199C= (p.Gln67=)
c.364C= (p.Gln122=)
c.217C= (p.Gln73=)
c.325C= (p.Gln109=)
c.235C= (p.Gln79=)
11g.8090177C>GCA379562977TUBc.199C>G (p.Gln67Glu)
c.364C>G (p.Gln122Glu)
c.217C>G (p.Gln73Glu)
c.325C>G (p.Gln109Glu)
c.235C>G (p.Gln79Glu)
11g.8090177C>TCA379562979TUBc.199C>T (p.Gln67Ter)
c.364C>T (p.Gln122Ter)
c.217C>T (p.Gln73Ter)
c.325C>T (p.Gln109Ter)
c.235C>T (p.Gln79Ter)
11g.8090178A>CCA379562983TUBc.200A>C (p.Gln67Pro)
c.365A>C (p.Gln122Pro)
c.218A>C (p.Gln73Pro)
c.326A>C (p.Gln109Pro)
c.236A>C (p.Gln79Pro)
11g.8090178A>GCA379562985TUBc.200A>G (p.Gln67Arg)
c.365A>G (p.Gln122Arg)
c.218A>G (p.Gln73Arg)
c.326A>G (p.Gln109Arg)
c.236A>G (p.Gln79Arg)
11g.8090178A>TCA379562987TUBc.200A>T (p.Gln67Leu)
c.365A>T (p.Gln122Leu)
c.218A>T (p.Gln73Leu)
c.326A>T (p.Gln109Leu)
c.236A>T (p.Gln79Leu)
11g.8090178_8090192delinsAAGCCCCCCTGGTGGCA1950953517TUBc.200_214delinsAAGCCCCCCTGGTGG (p.Gln67=)
c.365_379delinsAAGCCCCCCTGGTGG (p.Gln122=)
c.218_232delinsAAGCCCCCCTGGTGG (p.Gln73=)
c.326_340delinsAAGCCCCCCTGGTGG (p.Gln109=)
c.236_250delinsAAGCCCCCCTGGTGG (p.Gln79=)
11g.8090179A>CCA379562989TUBc.201A>C (p.Gln67His)
c.366A>C (p.Gln122His)
c.219A>C (p.Gln73His)
c.327A>C (p.Gln109His)
c.237A>C (p.Gln79His)
11g.8090179A>GCA473009103TUBc.201A>G (p.Gln67=)
c.366A>G (p.Gln122=)
c.219A>G (p.Gln73=)
c.327A>G (p.Gln109=)
c.237A>G (p.Gln79=)
11g.8090179A>TCA379562991TUBc.201A>T (p.Gln67His)
c.366A>T (p.Gln122His)
c.219A>T (p.Gln73His)
c.327A>T (p.Gln109His)
c.237A>T (p.Gln79His)
11g.8090181_8090194delCA5870992TUBc.203_216del (p.Ala68ValfsTer?)
c.368_381del (p.Ala123ValfsTer?)
c.221_234del (p.Ala74ValfsTer?)
c.329_342del (p.Ala110ValfsTer?)
c.239_252del (p.Ala80ValfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090180G>ACA379562995TUBc.202G>A (p.Ala68Thr)
c.367G>A (p.Ala123Thr)
c.220G>A (p.Ala74Thr)
c.328G>A (p.Ala110Thr)
c.238G>A (p.Ala80Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.8090180G>CCA379562997TUBc.202G>C (p.Ala68Pro)
c.367G>C (p.Ala123Pro)
c.220G>C (p.Ala74Pro)
c.328G>C (p.Ala110Pro)
c.238G>C (p.Ala80Pro)
11g.8090180G=CA1950953522TUBc.202G= (p.Ala68=)
c.367G= (p.Ala123=)
c.220G= (p.Ala74=)
c.328G= (p.Ala110=)
c.238G= (p.Ala80=)
11g.8090180G>TCA379562999TUBc.202G>T (p.Ala68Ser)
c.367G>T (p.Ala123Ser)
c.220G>T (p.Ala74Ser)
c.328G>T (p.Ala110Ser)
c.238G>T (p.Ala80Ser)
11g.8090181C>ACA379563001TUBc.203C>A (p.Ala68Asp)
c.368C>A (p.Ala123Asp)
c.221C>A (p.Ala74Asp)
c.329C>A (p.Ala110Asp)
c.239C>A (p.Ala80Asp)
 gnomAD v4
11g.8090181C=CA1950953525TUBc.203C= (p.Ala68=)
c.368C= (p.Ala123=)
c.221C= (p.Ala74=)
c.329C= (p.Ala110=)
c.239C= (p.Ala80=)
11g.8090181C>GCA379563003TUBc.203C>G (p.Ala68Gly)
c.368C>G (p.Ala123Gly)
c.221C>G (p.Ala74Gly)
c.329C>G (p.Ala110Gly)
c.239C>G (p.Ala80Gly)
11g.8090181C>TCA5870993TUBc.203C>T (p.Ala68Val)
c.368C>T (p.Ala123Val)
c.221C>T (p.Ala74Val)
c.329C>T (p.Ala110Val)
c.239C>T (p.Ala80Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.8090186dupCA597441574TUBc.208dup (p.Leu70ProfsTer?)
c.373dup (p.Leu125ProfsTer?)
c.226dup (p.Leu76ProfsTer?)
c.334dup (p.Leu112ProfsTer?)
c.244dup (p.Leu82ProfsTer?)
 gnomAD v2
11g.8090183_8090186dupCA2790351904TUBc.205_208dup (p.Leu70ProfsTer?)
c.370_373dup (p.Leu125ProfsTer?)
c.223_226dup (p.Leu76ProfsTer?)
c.331_334dup (p.Leu112ProfsTer?)
c.241_244dup (p.Leu82ProfsTer?)
11g.8090186delCA473009104TUBc.208del (p.Leu70TrpfsTer?)
c.373del (p.Leu125TrpfsTer?)
c.226del (p.Leu76TrpfsTer?)
c.334del (p.Leu112TrpfsTer?)
c.244del (p.Leu82TrpfsTer?)
 gnomAD v4 COSMIC
11g.8090182C>ACA473009105TUBc.204C>A (p.Ala68=)
c.369C>A (p.Ala123=)
c.222C>A (p.Ala74=)
c.330C>A (p.Ala110=)
c.240C>A (p.Ala80=)
 dbSNP COSMIC
11g.8090182C=CA1950953531TUBc.204C= (p.Ala68=)
c.369C= (p.Ala123=)
c.222C= (p.Ala74=)
c.330C= (p.Ala110=)
c.240C= (p.Ala80=)
11g.8090182C>GCA473009106TUBc.204C>G (p.Ala68=)
c.369C>G (p.Ala123=)
c.222C>G (p.Ala74=)
c.330C>G (p.Ala110=)
c.240C>G (p.Ala80=)
 dbSNP gnomAD v2 gnomAD v4
11g.8090182C>TCA5870994TUBc.204C>T (p.Ala68=)
c.369C>T (p.Ala123=)
c.222C>T (p.Ala74=)
c.330C>T (p.Ala110=)
c.240C>T (p.Ala80=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090184_8090197dupCA2612330586TUBc.206_219dup (p.Tyr74ProfsTer?)
c.371_384dup (p.Tyr129ProfsTer?)
c.224_237dup (p.Tyr80ProfsTer?)
c.332_345dup (p.Tyr116ProfsTer?)
c.242_255dup (p.Tyr86ProfsTer?)
 gnomAD v4
11g.8090183C>ACA379563007TUBc.205C>A (p.Pro69Thr)
c.370C>A (p.Pro124Thr)
c.223C>A (p.Pro75Thr)
c.331C>A (p.Pro111Thr)
c.241C>A (p.Pro81Thr)
11g.8090183C=CA1950953535TUBc.205C= (p.Pro69=)
c.370C= (p.Pro124=)
c.223C= (p.Pro75=)
c.331C= (p.Pro111=)
c.241C= (p.Pro81=)
11g.8090183C>GCA379563008TUBc.205C>G (p.Pro69Ala)
c.370C>G (p.Pro124Ala)
c.223C>G (p.Pro75Ala)
c.331C>G (p.Pro111Ala)
c.241C>G (p.Pro81Ala)
11g.8090183C>TCA217415637TUBc.205C>T (p.Pro69Ser)
c.370C>T (p.Pro124Ser)
c.223C>T (p.Pro75Ser)
c.331C>T (p.Pro111Ser)
c.241C>T (p.Pro81Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.8090184C>ACA379563014TUBc.206C>A (p.Pro69His)
c.371C>A (p.Pro124His)
c.224C>A (p.Pro75His)
c.332C>A (p.Pro111His)
c.242C>A (p.Pro81His)
11g.8090184C=CA1950953537TUBc.206C= (p.Pro69=)
c.371C= (p.Pro124=)
c.224C= (p.Pro75=)
c.332C= (p.Pro111=)
c.242C= (p.Pro81=)
11g.8090184C>GCA379563011TUBc.206C>G (p.Pro69Arg)
c.371C>G (p.Pro124Arg)
c.224C>G (p.Pro75Arg)
c.332C>G (p.Pro111Arg)
c.242C>G (p.Pro81Arg)
11g.8090184C>TCA379563012TUBc.206C>T (p.Pro69Leu)
c.371C>T (p.Pro124Leu)
c.224C>T (p.Pro75Leu)
c.332C>T (p.Pro111Leu)
c.242C>T (p.Pro81Leu)
 dbSNP
11g.8090185C>ACA473009107TUBc.207C>A (p.Pro69=)
c.372C>A (p.Pro124=)
c.225C>A (p.Pro75=)
c.333C>A (p.Pro111=)
c.243C>A (p.Pro81=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.8090185C=CA1950953541TUBc.207C= (p.Pro69=)
c.372C= (p.Pro124=)
c.225C= (p.Pro75=)
c.333C= (p.Pro111=)
c.243C= (p.Pro81=)
11g.8090185C>GCA473009108TUBc.207C>G (p.Pro69=)
c.372C>G (p.Pro124=)
c.225C>G (p.Pro75=)
c.333C>G (p.Pro111=)
c.243C>G (p.Pro81=)
 gnomAD v4
11g.8090185C>TCA5870995TUBc.207C>T (p.Pro69=)
c.372C>T (p.Pro124=)
c.225C>T (p.Pro75=)
c.333C>T (p.Pro111=)
c.243C>T (p.Pro81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.8090186C>ACA379563016TUBc.208C>A (p.Leu70Met)
c.373C>A (p.Leu125Met)
c.226C>A (p.Leu76Met)
c.334C>A (p.Leu112Met)
c.244C>A (p.Leu82Met)
11g.8090186C>GCA379563018TUBc.208C>G (p.Leu70Val)
c.373C>G (p.Leu125Val)
c.226C>G (p.Leu76Val)
c.334C>G (p.Leu112Val)
c.244C>G (p.Leu82Val)
11g.8090186C>TCA473009109TUBc.208C>T (p.Leu70=)
c.373C>T (p.Leu125=)
c.226C>T (p.Leu76=)
c.334C>T (p.Leu112=)
c.244C>T (p.Leu82=)
11g.8090187delCA2790351910TUBc.209del (p.Leu70ArgfsTer?)
c.374del (p.Leu125ArgfsTer?)
c.227del (p.Leu76ArgfsTer?)
c.335del (p.Leu112ArgfsTer?)
c.245del (p.Leu82ArgfsTer?)
11g.8090187T>ACA379563025TUBc.209T>A (p.Leu70Gln)
c.374T>A (p.Leu125Gln)
c.227T>A (p.Leu76Gln)
c.335T>A (p.Leu112Gln)
c.245T>A (p.Leu82Gln)
 gnomAD v4
11g.8090187T>CCA379563023TUBc.209T>C (p.Leu70Pro)
c.374T>C (p.Leu125Pro)
c.227T>C (p.Leu76Pro)
c.335T>C (p.Leu112Pro)
c.245T>C (p.Leu82Pro)
11g.8090187T>GCA379563021TUBc.209T>G (p.Leu70Arg)
c.374T>G (p.Leu125Arg)
c.227T>G (p.Leu76Arg)
c.335T>G (p.Leu112Arg)
c.245T>G (p.Leu82Arg)
11g.8090188G>ACA473009112TUBc.210G>A (p.Leu70=)
c.375G>A (p.Leu125=)
c.228G>A (p.Leu76=)
c.336G>A (p.Leu112=)
c.246G>A (p.Leu82=)
 dbSNP
11g.8090188G>CCA473009111TUBc.210G>C (p.Leu70=)
c.375G>C (p.Leu125=)
c.228G>C (p.Leu76=)
c.336G>C (p.Leu112=)
c.246G>C (p.Leu82=)
11g.8090188G=CA1950953547TUBc.210G= (p.Leu70=)
c.375G= (p.Leu125=)
c.228G= (p.Leu76=)
c.336G= (p.Leu112=)
c.246G= (p.Leu82=)
11g.8090188G>TCA473009110TUBc.210G>T (p.Leu70=)
c.375G>T (p.Leu125=)
c.228G>T (p.Leu76=)
c.336G>T (p.Leu112=)
c.246G>T (p.Leu82=)
11g.8090189G>ACA379563027TUBc.211G>A (p.Val71Met)
c.376G>A (p.Val126Met)
c.229G>A (p.Val77Met)
c.337G>A (p.Val113Met)
c.247G>A (p.Val83Met)
11g.8090189G>CCA379563029TUBc.211G>C (p.Val71Leu)
c.376G>C (p.Val126Leu)
c.229G>C (p.Val77Leu)
c.337G>C (p.Val113Leu)
c.247G>C (p.Val83Leu)
11g.8090189G>TCA379563031TUBc.211G>T (p.Val71Leu)
c.376G>T (p.Val126Leu)
c.229G>T (p.Val77Leu)
c.337G>T (p.Val113Leu)
c.247G>T (p.Val83Leu)
11g.8090190T>ACA379563033TUBc.212T>A (p.Val71Glu)
c.377T>A (p.Val126Glu)
c.230T>A (p.Val77Glu)
c.338T>A (p.Val113Glu)
c.248T>A (p.Val83Glu)
11g.8090190T>CCA379563035TUBc.212T>C (p.Val71Ala)
c.377T>C (p.Val126Ala)
c.230T>C (p.Val77Ala)
c.338T>C (p.Val113Ala)
c.248T>C (p.Val83Ala)
11g.8090190T>GCA379563037TUBc.212T>G (p.Val71Gly)
c.377T>G (p.Val126Gly)
c.230T>G (p.Val77Gly)
c.338T>G (p.Val113Gly)
c.248T>G (p.Val83Gly)
 dbSNP
11g.8090190T=CA1950953549TUBc.212T= (p.Val71=)
c.377T= (p.Val126=)
c.230T= (p.Val77=)
c.338T= (p.Val113=)
c.248T= (p.Val83=)

Number of alleles fetched