Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.17115418_17115420dupCA2608403874CUBNc.720+62_720+64dup (n.720+62_720+64dup)
gnomAD v4
10g.17115418_17115420delCA2508216693CUBNc.720+62_720+64del (n.720+62_720+64del)
gnomAD v4
10g.17115415_17115420delCA2608403875CUBNc.720+59_720+64del (n.720+59_720+64del)
gnomAD v4
10g.17115418G>ACA2608403886CUBNc.720+53C>T (n.720+53C>T)
gnomAD v4
10g.17115418G=CA1893454611CUBNc.720+53C= (n.720+53C=)
10g.17115418G>TCA203603580CUBNc.720+53C>A (n.720+53C>A)
dbSNP gnomAD v4
10g.17115419A=CA1893454614CUBNc.720+52T= (n.720+52T=)
10g.17115419A>GCA2608403887CUBNc.720+52T>C (n.720+52T>C)
gnomAD v4
10g.17115420G>ACA203603590CUBNc.720+51C>T (n.720+51C>T)
dbSNP gnomAD v4
10g.17115420G=CA1893454619CUBNc.720+51C= (n.720+51C=)
10g.17115420G>TCA2608403888CUBNc.720+51C>A (n.720+51C>A)
gnomAD v4
10g.17115420_17115422dupCA592156310CUBNc.720+49_720+51dup (n.720+49_720+51dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17115421C>ACA2720988678CUBNc.720+50G>T (n.720+50G>T)
dbSNP
10g.17115421C>GCA2573734211CUBNc.720+50G>C (n.720+50G>C)
10g.17115424_17115426delCA2608403889CUBNc.720+48_720+50del (n.720+48_720+50del)
gnomAD v4
10g.17115422_17115428delCA2608403890CUBNc.720+44_720+50del (n.720+44_720+50del)
gnomAD v4
10g.17115422T>CCA2608403891CUBNc.720+49A>G (n.720+49A>G)
dbSNP gnomAD v4
10g.17115425T>CCA203603594CUBNc.720+46A>G (n.720+46A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17115425T=CA1893454624CUBNc.720+46A= (n.720+46A=)
10g.17115427delCA2536745988CUBNc.720+45del (n.720+45del)
10g.17115428C>ACA592156311CUBNc.720+43G>T (n.720+43G>T)
dbSNP gnomAD v2 gnomAD v4
10g.17115428C=CA1893454626CUBNc.720+43G= (n.720+43G=)
10g.17115428C>TCA2608403892CUBNc.720+43G>A (n.720+43G>A)
gnomAD v4
10g.17115429C>ACA2608403893CUBNc.720+42G>T (n.720+42G>T)
gnomAD v4
10g.17115429C>GCA2573734212CUBNc.720+42G>C (n.720+42G>C)
10g.17115429C>TCA2572658517CUBNc.720+42G>A (n.720+42G>A)
gnomAD v4
10g.17115431T>CCA5425525CUBNc.720+40A>G (n.720+40A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17115431T=CA1893454627CUBNc.720+40A= (n.720+40A=)
10g.17115432G>ACA592156312CUBNc.720+39C>T (n.720+39C>T)
dbSNP gnomAD v2
10g.17115432G=CA1893454630CUBNc.720+39C= (n.720+39C=)
10g.17115434C=CA1893454632CUBNc.720+37G= (n.720+37G=)
10g.17115434C>TCA5425526CUBNc.720+37G>A (n.720+37G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17115435T>CCA662371191CUBNc.720+36A>G (n.720+36A>G)
dbSNP
10g.17115435T>GCA5425527CUBNc.720+36A>C (n.720+36A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17115435T=CA1893454636CUBNc.720+36A= (n.720+36A=)
10g.17115436C>TCA2608403894CUBNc.720+35G>A (n.720+35G>A)
dbSNP gnomAD v4
10g.17115437T>CCA2608403895CUBNc.720+34A>G (n.720+34A>G)
gnomAD v4
10g.17115438C=CA1893454638CUBNc.720+33G= (n.720+33G=)
10g.17115438C>GCA592156313CUBNc.720+33G>C (n.720+33G>C)
dbSNP gnomAD v2 gnomAD v4
10g.17115438C>TCA2608403896CUBNc.720+33G>A (n.720+33G>A)
gnomAD v4
10g.17115439T>ACA5425528CUBNc.720+32A>T (n.720+32A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17115439T>CCA2573734213CUBNc.720+32A>G (n.720+32A>G)
10g.17115439T=CA1893454641CUBNc.720+32A= (n.720+32A=)
10g.17115440G>ACA592156314CUBNc.720+31C>T (n.720+31C>T)
dbSNP gnomAD v2 gnomAD v4
10g.17115440G=CA1893454643CUBNc.720+31C= (n.720+31C=)
10g.17115441C>ACA5425529CUBNc.720+30G>T (n.720+30G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17115441C=CA1893454645CUBNc.720+30G= (n.720+30G=)
10g.17115443A>GCA2608403897CUBNc.720+28T>C (n.720+28T>C)
gnomAD v4
10g.17115444G>ACA1893454647CUBNc.720+27C>T (n.720+27C>T)
dbSNP
10g.17115444G>CCA2574501695CUBNc.720+27C>G (n.720+27C>G)
10g.17115444G=CA1893454646CUBNc.720+27C= (n.720+27C=)
10g.17115446_17115447delinsAGCA1893454649CUBNc.720+24_720+25delinsCT (n.720+24_720+25delinsCT)
10g.17115447G>ACA203603614CUBNc.720+24C>T (n.720+24C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17115447G=CA1893454655CUBNc.720+24C= (n.720+24C=)
10g.17115448delCA5425530CUBNc.720+24del (n.720+24del)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17115448G>ACA592156315CUBNc.720+23C>T (n.720+23C>T)
dbSNP gnomAD v2 gnomAD v4
10g.17115448G=CA1893454658CUBNc.720+23C= (n.720+23C=)
10g.17115448G>TCA2608403898CUBNc.720+23C>A (n.720+23C>A)
gnomAD v4
10g.17115449C=CA1893454660CUBNc.720+22G= (n.720+22G=)
10g.17115449C>TCA925377482CUBNc.720+22G>A (n.720+22G>A)
dbSNP gnomAD v3 gnomAD v4
10g.17115450A=CA1893454662CUBNc.720+21T= (n.720+21T=)
10g.17115450A>TCA1893454663CUBNc.720+21T>A (n.720+21T>A)
dbSNP
10g.17115451C=CA1893454664CUBNc.720+20G= (n.720+20G=)
10g.17115451C>GCA2608403899CUBNc.720+20G>C (n.720+20G>C)
gnomAD v4
10g.17115451C>TCA5425531CUBNc.720+20G>A (n.720+20G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17115452_17115453delinsATCA1893454666CUBNc.720+18_720+19delinsAT (n.720+18_720+19delinsAT)
10g.17115455delCA1893454667CUBNc.720+18del (n.720+18del)
dbSNP
10g.17115454T>ACA1893454671CUBNc.720+17A>T (n.720+17A>T)
dbSNP
10g.17115454T>CCA2608403900CUBNc.720+17A>G (n.720+17A>G)
gnomAD v4
10g.17115454T>GCA203603629CUBNc.720+17A>C (n.720+17A>C)
dbSNP gnomAD v2 gnomAD v4
10g.17115454T=CA1893454670CUBNc.720+17A= (n.720+17A=)
10g.17115455T=CA1893454674CUBNc.720+16A= (n.720+16A=)
10g.17115456G>ACA5425532CUBNc.720+15C>T (n.720+15C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17115456G>CCA2608403901CUBNc.720+15C>G (n.720+15C>G)
gnomAD v4
10g.17115456G=CA1893454676CUBNc.720+15C= (n.720+15C=)
10g.17115459dupCA1893454679CUBNc.720+15dup (n.720+15dup)
dbSNP
10g.17115457G>ACA592156316CUBNc.720+14C>T (n.720+14C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17115457G>CCA2608403902CUBNc.720+14C>G (n.720+14C>G)
gnomAD v4
10g.17115457G=CA1893454682CUBNc.720+14C= (n.720+14C=)
10g.17115458G>ACA1893454686CUBNc.720+13C>T (n.720+13C>T)
dbSNP gnomAD v3 gnomAD v4
10g.17115458G>CCA2608403903CUBNc.720+13C>G (n.720+13C>G)
gnomAD v4
10g.17115458G=CA1893454684CUBNc.720+13C= (n.720+13C=)
10g.17115458G>TCA2786798883CUBNc.720+13C>A (n.720+13C>A)
10g.17115459G>ACA468306640CUBNc.720+12C>T (n.720+12C>T)
dbSNP
10g.17115459G=CA1893454689CUBNc.720+12C= (n.720+12C=)
10g.17115459G>TCA203603639CUBNc.720+12C>A (n.720+12C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.17115460A=CA1893454693CUBNc.720+11T= (n.720+11T=)
10g.17115460A>GCA1893454695CUBNc.720+11T>C (n.720+11T>C)
dbSNP
10g.17115462G>ACA662371207CUBNc.720+9C>T (n.720+9C>T)
dbSNP gnomAD v3 gnomAD v4
10g.17115462G=CA1893454698CUBNc.720+9C= (n.720+9C=)
10g.17115464delCA2608403904CUBNc.720+9del (n.720+9del)
gnomAD v4
10g.17115463G>ACA5425533CUBNc.720+8C>T (n.720+8C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.17115463G=CA1893454700CUBNc.720+8C= (n.720+8C=)
10g.17115466C>TCA2574501701CUBNc.720+5G>A (n.720+5G>A)
10g.17115467C>ACA1893454703CUBNc.720+4G>T (n.720+4G>T)
dbSNP
10g.17115467C=CA1893454702CUBNc.720+4G= (n.720+4G=)
10g.17115467C>TCA1893454704CUBNc.720+4G>A (n.720+4G>A)
dbSNP gnomAD v3 gnomAD v4
10g.17115468C=CA1893454706CUBNc.720+3G= (n.720+3G=)
10g.17115468C>TCA1893454708CUBNc.720+3G>A (n.720+3G>A)
dbSNP gnomAD v4
10g.17115469A>CCA376166358CUBNc.720+2T>G (n.720+2T>G)
10g.17115469A>GCA376166354CUBNc.720+2T>C (n.720+2T>C)
10g.17115469A>TCA376166356CUBNc.720+2T>A (n.720+2T>A)
10g.17115470C>ACA376166361CUBNc.720+1G>T (n.720+1G>T)
10g.17115470C>GCA376166364CUBNc.720+1G>C (n.720+1G>C)
10g.17115470C>TCA376166366CUBNc.720+1G>A (n.720+1G>A)
10g.17115471C>ACA376166368CUBNc.720G>T (p.Glu240Asp)
10g.17115471C>GCA376166370CUBNc.720G>C (p.Glu240Asp)
10g.17115471C>TCA468306641CUBNc.720G>A (p.Glu240=)
10g.17115472T>ACA376166372CUBNc.719A>T (p.Glu240Val)
10g.17115472T>CCA376166375CUBNc.719A>G (p.Glu240Gly)
10g.17115472T>GCA376166377CUBNc.719A>C (p.Glu240Ala)
10g.17115473C>ACA376166381CUBNc.718G>T (p.Glu240Ter)
10g.17115473C>GCA376166383CUBNc.718G>C (p.Glu240Gln)
10g.17115473C>TCA376166385CUBNc.718G>A (p.Glu240Lys)
10g.17115474T>ACA468306642CUBNc.717A>T (p.Gly239=)
10g.17115474T>CCA468306643CUBNc.717A>G (p.Gly239=)
10g.17115474T>GCA468306644CUBNc.717A>C (p.Gly239=)
10g.17115475C>ACA376166392CUBNc.716G>T (p.Gly239Val)
10g.17115475C=CA1893454710CUBNc.716G= (p.Gly239=)
10g.17115475C>GCA376166389CUBNc.716G>C (p.Gly239Ala)
10g.17115475C>TCA376166388CUBNc.716G>A (p.Gly239Glu)
dbSNP gnomAD v4
10g.17115476C>ACA376166395CUBNc.715G>T (p.Gly239Ter)
10g.17115476C>GCA376166397CUBNc.715G>C (p.Gly239Arg)
10g.17115476C>TCA376166399CUBNc.715G>A (p.Gly239Arg)
10g.17115477A>CCA468306645CUBNc.714T>G (p.Ala238=)
10g.17115477A>GCA468306646CUBNc.714T>C (p.Ala238=)
gnomAD v4
10g.17115477A>TCA468306647CUBNc.714T>A (p.Ala238=)
gnomAD v4
10g.17115478G>ACA5425534CUBNc.713C>T (p.Ala238Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.17115478G>CCA376166403CUBNc.713C>G (p.Ala238Gly)
10g.17115478G=CA1893454714CUBNc.713C= (p.Ala238=)
10g.17115478G>TCA376166406CUBNc.713C>A (p.Ala238Asp)
10g.17115479C>ACA376166414CUBNc.712G>T (p.Ala238Ser)
10g.17115479C>GCA376166410CUBNc.712G>C (p.Ala238Pro)
10g.17115479C>TCA376166412CUBNc.712G>A (p.Ala238Thr)
10g.17115480T>ACA376166418CUBNc.711A>T (p.Gln237His)
10g.17115480T>CCA468306648CUBNc.711A>G (p.Gln237=)
10g.17115480T>GCA376166420CUBNc.711A>C (p.Gln237His)
10g.17115481T>ACA376166424CUBNc.710A>T (p.Gln237Leu)
10g.17115481T>CCA376166426CUBNc.710A>G (p.Gln237Arg)
10g.17115481T>GCA376166428CUBNc.710A>C (p.Gln237Pro)
10g.17115482G>ACA376166431CUBNc.709C>T (p.Gln237Ter)
10g.17115482G>CCA376166434CUBNc.709C>G (p.Gln237Glu)
10g.17115482G>TCA376166432CUBNc.709C>A (p.Gln237Lys)
10g.17115483C>ACA376166436CUBNc.708G>T (p.Glu236Asp)
10g.17115483C>GCA376166438CUBNc.708G>C (p.Glu236Asp)
10g.17115483C>TCA468306649CUBNc.708G>A (p.Glu236=)
gnomAD v4
10g.17115484T>ACA376166440CUBNc.707A>T (p.Glu236Val)
10g.17115484T>CCA376166442CUBNc.707A>G (p.Glu236Gly)
dbSNP gnomAD v2 gnomAD v4
10g.17115484T>GCA376166444CUBNc.707A>C (p.Glu236Ala)
10g.17115484T=CA1893454718CUBNc.707A= (p.Glu236=)
10g.17115485C>ACA376166446CUBNc.706G>T (p.Glu236Ter)
10g.17115485C>GCA376166448CUBNc.706G>C (p.Glu236Gln)
10g.17115485C>TCA376166452CUBNc.706G>A (p.Glu236Lys)
gnomAD v4 COSMIC
10g.17115486T>ACA468306650CUBNc.705A>T (p.Arg235=)
10g.17115486T>CCA468306652CUBNc.705A>G (p.Arg235=)
10g.17115486T>GCA468306651CUBNc.705A>C (p.Arg235=)
10g.17115487C>ACA376166453CUBNc.704G>T (p.Arg235Leu)
gnomAD v4
10g.17115487C=CA1893454725CUBNc.704G= (p.Arg235=)
10g.17115487C>GCA5425535CUBNc.704G>C (p.Arg235Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17115487C>TCA376166455CUBNc.704G>A (p.Arg235Gln)
dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.17115488G>ACA376166461CUBNc.703C>T (p.Arg235Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17115488G>CCA376166459CUBNc.703C>G (p.Arg235Gly)
gnomAD v4
10g.17115488G=CA1893454736CUBNc.703C= (p.Arg235=)
10g.17115488G>TCA468306653CUBNc.703C>A (p.Arg235=)
10g.17115489C>ACA376166463CUBNc.702G>T (p.Met234Ile)
10g.17115489C>GCA376166467CUBNc.702G>C (p.Met234Ile)
10g.17115489C>TCA376166465CUBNc.702G>A (p.Met234Ile)
COSMIC
10g.17115490A>CCA376166470CUBNc.701T>G (p.Met234Arg)
10g.17115490A>GCA376166474CUBNc.701T>C (p.Met234Thr)
10g.17115490A>TCA376166472CUBNc.701T>A (p.Met234Lys)
10g.17115491T>ACA376166478CUBNc.700A>T (p.Met234Leu)
10g.17115491T>CCA376166480CUBNc.700A>G (p.Met234Val)
10g.17115491T>GCA376166482CUBNc.700A>C (p.Met234Leu)
10g.17115492T>ACA376166485CUBNc.699A>T (p.Leu233Phe)
10g.17115492T>CCA468306654CUBNc.699A>G (p.Leu233=)
10g.17115492T>GCA376166499CUBNc.699A>C (p.Leu233Phe)
10g.17115493A=CA1893454743CUBNc.698T= (p.Leu233=)
10g.17115493A>CCA376166502CUBNc.698T>G (p.Leu233Ter)
10g.17115493A>GCA376166506CUBNc.698T>C (p.Leu233Ser)
dbSNP
10g.17115493A>TCA376166508CUBNc.698T>A (p.Leu233Ter)
10g.17115494A>CCA376166511CUBNc.697T>G (p.Leu233Val)
10g.17115494A>GCA468306655CUBNc.697T>C (p.Leu233=)
10g.17115494A>TCA376166513CUBNc.697T>A (p.Leu233Ile)
10g.17115495A>CCA376166517CUBNc.696T>G (p.Asp232Glu)
10g.17115495A>GCA468306656CUBNc.696T>C (p.Asp232=)
10g.17115495A>TCA376166519CUBNc.696T>A (p.Asp232Glu)
10g.17115496T>ACA376166522CUBNc.695A>T (p.Asp232Val)
10g.17115496T>CCA376166525CUBNc.695A>G (p.Asp232Gly)
gnomAD v4
10g.17115496T>GCA376166524CUBNc.695A>C (p.Asp232Ala)
10g.17115497C>ACA376166526CUBNc.694G>T (p.Asp232Tyr)
10g.17115497C=CA1893454748CUBNc.694G= (p.Asp232=)
10g.17115497C>GCA376166528CUBNc.694G>C (p.Asp232His)
10g.17115497C>TCA376166530CUBNc.694G>A (p.Asp232Asn)
dbSNP gnomAD v4
10g.17115498C>ACA376166532CUBNc.693G>T (p.Glu231Asp)
10g.17115498C=CA1893454751CUBNc.693G= (p.Glu231=)
10g.17115498C>GCA376166533CUBNc.693G>C (p.Glu231Asp)
10g.17115498C>TCA5425536CUBNc.693G>A (p.Glu231=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17115499T>ACA376166538CUBNc.692A>T (p.Glu231Val)
10g.17115499T>CCA376166539CUBNc.692A>G (p.Glu231Gly)
10g.17115499T>GCA376166541CUBNc.692A>C (p.Glu231Ala)
10g.17115500C>ACA376166548CUBNc.691G>T (p.Glu231Ter)
10g.17115500C>GCA376166546CUBNc.691G>C (p.Glu231Gln)
10g.17115500C>TCA376166544CUBNc.691G>A (p.Glu231Lys)
10g.17115501A>CCA376166551CUBNc.690T>G (p.Cys230Trp)
gnomAD v4
10g.17115501A>GCA468306657CUBNc.690T>C (p.Cys230=)
10g.17115501A>TCA376166553CUBNc.690T>A (p.Cys230Ter)
10g.17115502C>ACA376166557CUBNc.689G>T (p.Cys230Phe)
10g.17115502C>GCA376166559CUBNc.689G>C (p.Cys230Ser)
10g.17115502C>TCA376166561CUBNc.689G>A (p.Cys230Tyr)
10g.17115503A>CCA376166564CUBNc.688T>G (p.Cys230Gly)
10g.17115503A>GCA376166565CUBNc.688T>C (p.Cys230Arg)
10g.17115503A>TCA376166567CUBNc.688T>A (p.Cys230Ser)
10g.17115504G>ACA468306658CUBNc.687C>T (p.Ile229=)
10g.17115504G>CCA376166570CUBNc.687C>G (p.Ile229Met)
10g.17115504G>TCA468306659CUBNc.687C>A (p.Ile229=)
COSMIC
10g.17115505A>CCA376166572CUBNc.686T>G (p.Ile229Ser)
10g.17115505A>GCA376166574CUBNc.686T>C (p.Ile229Thr)
gnomAD v4
10g.17115505A>TCA376166576CUBNc.686T>A (p.Ile229Asn)
10g.17115505_17115506insGGCATCCTACAAAAAAAAAACA2526139927CUBNc.686_687insTTTTTTTTTGTAGGATGCCT (p.Cys230PhefsTer4)
10g.17115506T>ACA376166583CUBNc.685A>T (p.Ile229Phe)
10g.17115506T>CCA376166579CUBNc.685A>G (p.Ile229Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17115506T>GCA376166581CUBNc.685A>C (p.Ile229Leu)
10g.17115506T=CA1893454754CUBNc.685A= (p.Ile229=)
10g.17115507G>ACA468306660CUBNc.684C>T (p.Gly228=)
dbSNP gnomAD v4
10g.17115507G>CCA468306661CUBNc.684C>G (p.Gly228=)
10g.17115507G=CA1893454756CUBNc.684C= (p.Gly228=)
10g.17115507G>TCA468306662CUBNc.684C>A (p.Gly228=)
COSMIC
10g.17115507_17115508insTGTGGAATATATGATGACTATCTCATAAAACAAAAGATGCCCTCGGATTCAAACACAGGCAGTCTTTGACTAACGGAGCCA2521573788CUBNc.683_684insGCTCCGTTAGTCAAAGACTGCCTGTGTTTGAATCCGAGGGCATCTTTTGTTTTATGAGATAGTCATCATATATTCCACA (p.Ile229LeufsTer3)
10g.17115508C>ACA376166585CUBNc.683G>T (p.Gly228Val)
10g.17115508C>GCA376166587CUBNc.683G>C (p.Gly228Ala)
10g.17115508C>TCA376166589CUBNc.683G>A (p.Gly228Asp)
COSMIC
10g.17115509C>ACA376166591CUBNc.682G>T (p.Gly228Cys)
gnomAD v4
10g.17115509C>GCA376166593CUBNc.682G>C (p.Gly228Arg)
10g.17115509C>TCA376166595CUBNc.682G>A (p.Gly228Ser)
10g.17115510A=CA1893454759CUBNc.681T= (p.His227=)
10g.17115510A>CCA376166598CUBNc.681T>G (p.His227Gln)
10g.17115510A>GCA5425537CUBNc.681T>C (p.His227=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17115510A>TCA376166602CUBNc.681T>A (p.His227Gln)
10g.17115511T>ACA376166606CUBNc.680A>T (p.His227Leu)
10g.17115511T>CCA203603675CUBNc.680A>G (p.His227Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.17115511T>GCA376166611CUBNc.680A>C (p.His227Pro)
10g.17115511T=CA1893454765CUBNc.680A= (p.His227=)
10g.17115512G>ACA376166617CUBNc.679C>T (p.His227Tyr)
10g.17115512G>CCA376166619CUBNc.679C>G (p.His227Asp)
10g.17115512G=CA1893454769CUBNc.679C= (p.His227=)
10g.17115512G>TCA376166614CUBNc.679C>A (p.His227Asn)
dbSNP gnomAD v2 gnomAD v4
10g.17115513G>ACA468306665CUBNc.678C>T (p.Val226=)
COSMIC
10g.17115513G>CCA468306664CUBNc.678C>G (p.Val226=)
gnomAD v4
10g.17115513G>TCA468306663CUBNc.678C>A (p.Val226=)
10g.17115514A>CCA376166625CUBNc.677T>G (p.Val226Gly)
10g.17115514A>GCA376166621CUBNc.677T>C (p.Val226Ala)
10g.17115514A>TCA376166623CUBNc.677T>A (p.Val226Asp)
10g.17115515C>ACA376166629CUBNc.676G>T (p.Val226Phe)
10g.17115515C=CA1893454771CUBNc.676G= (p.Val226=)
10g.17115515C>GCA376166632CUBNc.676G>C (p.Val226Leu)
10g.17115515C>TCA376166633CUBNc.676G>A (p.Val226Ile)
dbSNP gnomAD v2 gnomAD v4
10g.17115516A>CCA376166635CUBNc.675T>G (p.Cys225Trp)
10g.17115516A>GCA468306666CUBNc.675T>C (p.Cys225=)
10g.17115516A>TCA376166637CUBNc.675T>A (p.Cys225Ter)
10g.17115517C>ACA376166640CUBNc.674G>T (p.Cys225Phe)
10g.17115517C>GCA376166641CUBNc.674G>C (p.Cys225Ser)
10g.17115517C>TCA376166643CUBNc.674G>A (p.Cys225Tyr)
gnomAD v4
10g.17115518A=CA1893454774CUBNc.673T= (p.Cys225=)
10g.17115518A>CCA376166645CUBNc.673T>G (p.Cys225Gly)
10g.17115518A>GCA376166647CUBNc.673T>C (p.Cys225Arg)
10g.17115518A>TCA144302CUBNc.673T>A (p.Cys225Ser)
ClinVar dbSNP

Number of alleles fetched