Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.39357225G>TCA2578610522KIF6c.2180+52C>A (n.2180+52C>A)
c.533+52C>A (n.533+52C>A)
c.1855+52C>A
c.2129+52C>A (n.2129+52C>A)
c.2012+52C>A (n.2012+52C>A)
c.1553+52C>A (n.1553+52C>A)
c.1871+52C>A (n.1871+52C>A)
c.1535+52C>A (n.1535+52C>A)
n.75+5277G>T
gnomAD v4
6g.39357226T>CCA3793778KIF6c.2180+51A>G (n.2180+51A>G)
c.533+51A>G (n.533+51A>G)
c.1855+51A>G
c.2129+51A>G (n.2129+51A>G)
c.2012+51A>G (n.2012+51A>G)
c.1553+51A>G (n.1553+51A>G)
c.1871+51A>G (n.1871+51A>G)
c.1535+51A>G (n.1535+51A>G)
n.75+5278T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357226T=CA1622646692KIF6c.2180+51A= (n.2180+51A=)
c.533+51A= (n.533+51A=)
c.1855+51A=
c.2129+51A= (n.2129+51A=)
c.2012+51A= (n.2012+51A=)
c.1553+51A= (n.1553+51A=)
c.1871+51A= (n.1871+51A=)
c.1535+51A= (n.1535+51A=)
n.75+5278T=
6g.39357227A>GCA2678627196KIF6c.2180+50T>C (n.2180+50T>C)
c.533+50T>C (n.533+50T>C)
c.1855+50T>C
c.2129+50T>C (n.2129+50T>C)
c.2012+50T>C (n.2012+50T>C)
c.1553+50T>C (n.1553+50T>C)
c.1871+50T>C (n.1871+50T>C)
c.1535+50T>C (n.1535+50T>C)
n.75+5279A>G
gnomAD v4
6g.39357228G>TCA2578610523KIF6c.2180+49C>A (n.2180+49C>A)
c.533+49C>A (n.533+49C>A)
c.1855+49C>A
c.2129+49C>A (n.2129+49C>A)
c.2012+49C>A (n.2012+49C>A)
c.1553+49C>A (n.1553+49C>A)
c.1871+49C>A (n.1871+49C>A)
c.1535+49C>A (n.1535+49C>A)
n.75+5280G>T
gnomAD v4
6g.39357229G>ACA1622646695KIF6c.2180+48C>T (n.2180+48C>T)
c.533+48C>T (n.533+48C>T)
c.1855+48C>T
c.2129+48C>T (n.2129+48C>T)
c.2012+48C>T (n.2012+48C>T)
c.1553+48C>T (n.1553+48C>T)
c.1871+48C>T (n.1871+48C>T)
c.1535+48C>T (n.1535+48C>T)
n.75+5281G>A
dbSNP
6g.39357229G=CA1622646694KIF6c.2180+48C= (n.2180+48C=)
c.533+48C= (n.533+48C=)
c.1855+48C=
c.2129+48C= (n.2129+48C=)
c.2012+48C= (n.2012+48C=)
c.1553+48C= (n.1553+48C=)
c.1871+48C= (n.1871+48C=)
c.1535+48C= (n.1535+48C=)
n.75+5281G=
6g.39357230G=CA1622646697KIF6c.2180+47C= (n.2180+47C=)
c.533+47C= (n.533+47C=)
c.1855+47C=
c.2129+47C= (n.2129+47C=)
c.2012+47C= (n.2012+47C=)
c.1553+47C= (n.1553+47C=)
c.1871+47C= (n.1871+47C=)
c.1535+47C= (n.1535+47C=)
n.75+5282G=
6g.39357230G>TCA3793779KIF6c.2180+47C>A (n.2180+47C>A)
c.533+47C>A (n.533+47C>A)
c.1855+47C>A
c.2129+47C>A (n.2129+47C>A)
c.2012+47C>A (n.2012+47C>A)
c.1553+47C>A (n.1553+47C>A)
c.1871+47C>A (n.1871+47C>A)
c.1535+47C>A (n.1535+47C>A)
n.75+5282G>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357231A=CA1622646698KIF6c.2180+46T= (n.2180+46T=)
c.533+46T= (n.533+46T=)
c.1855+46T=
c.2129+46T= (n.2129+46T=)
c.2012+46T= (n.2012+46T=)
c.1553+46T= (n.1553+46T=)
c.1871+46T= (n.1871+46T=)
c.1535+46T= (n.1535+46T=)
n.75+5283A=
6g.39357231A>GCA566664950KIF6c.2180+46T>C (n.2180+46T>C)
c.533+46T>C (n.533+46T>C)
c.1855+46T>C
c.2129+46T>C (n.2129+46T>C)
c.2012+46T>C (n.2012+46T>C)
c.1553+46T>C (n.1553+46T>C)
c.1871+46T>C (n.1871+46T>C)
c.1535+46T>C (n.1535+46T>C)
n.75+5283A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.39357231A>TCA2678627197KIF6c.2180+46T>A (n.2180+46T>A)
c.533+46T>A (n.533+46T>A)
c.1855+46T>A
c.2129+46T>A (n.2129+46T>A)
c.2012+46T>A (n.2012+46T>A)
c.1553+46T>A (n.1553+46T>A)
c.1871+46T>A (n.1871+46T>A)
c.1535+46T>A (n.1535+46T>A)
n.75+5283A>T
gnomAD v4
6g.39357232G>ACA3793780KIF6c.2180+45C>T (n.2180+45C>T)
c.533+45C>T (n.533+45C>T)
c.1855+45C>T
c.2129+45C>T (n.2129+45C>T)
c.2012+45C>T (n.2012+45C>T)
c.1553+45C>T (n.1553+45C>T)
c.1871+45C>T (n.1871+45C>T)
c.1535+45C>T (n.1535+45C>T)
n.75+5284G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357232G=CA1622646701KIF6c.2180+45C= (n.2180+45C=)
c.533+45C= (n.533+45C=)
c.1855+45C=
c.2129+45C= (n.2129+45C=)
c.2012+45C= (n.2012+45C=)
c.1553+45C= (n.1553+45C=)
c.1871+45C= (n.1871+45C=)
c.1535+45C= (n.1535+45C=)
n.75+5284G=
6g.39357232G>TCA566664952KIF6c.2180+45C>A (n.2180+45C>A)
c.533+45C>A (n.533+45C>A)
c.1855+45C>A
c.2129+45C>A (n.2129+45C>A)
c.2012+45C>A (n.2012+45C>A)
c.1553+45C>A (n.1553+45C>A)
c.1871+45C>A (n.1871+45C>A)
c.1535+45C>A (n.1535+45C>A)
n.75+5284G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.39357233C>ACA3793782KIF6c.2180+44G>T (n.2180+44G>T)
c.533+44G>T (n.533+44G>T)
c.1855+44G>T
c.2129+44G>T (n.2129+44G>T)
c.2012+44G>T (n.2012+44G>T)
c.1553+44G>T (n.1553+44G>T)
c.1871+44G>T (n.1871+44G>T)
c.1535+44G>T (n.1535+44G>T)
n.75+5285C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357233C=CA1622646705KIF6c.2180+44G= (n.2180+44G=)
c.533+44G= (n.533+44G=)
c.1855+44G=
c.2129+44G= (n.2129+44G=)
c.2012+44G= (n.2012+44G=)
c.1553+44G= (n.1553+44G=)
c.1871+44G= (n.1871+44G=)
c.1535+44G= (n.1535+44G=)
n.75+5285C=
6g.39357233C>GCA3793781KIF6c.2180+44G>C (n.2180+44G>C)
c.533+44G>C (n.533+44G>C)
c.1855+44G>C
c.2129+44G>C (n.2129+44G>C)
c.2012+44G>C (n.2012+44G>C)
c.1553+44G>C (n.1553+44G>C)
c.1871+44G>C (n.1871+44G>C)
c.1535+44G>C (n.1535+44G>C)
n.75+5285C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357233C>TCA2678627198KIF6c.2180+44G>A (n.2180+44G>A)
c.533+44G>A (n.533+44G>A)
c.1855+44G>A
c.2129+44G>A (n.2129+44G>A)
c.2012+44G>A (n.2012+44G>A)
c.1553+44G>A (n.1553+44G>A)
c.1871+44G>A (n.1871+44G>A)
c.1535+44G>A (n.1535+44G>A)
n.75+5285C>T
gnomAD v4
6g.39357234C>ACA824550416KIF6c.2180+43G>T (n.2180+43G>T)
c.533+43G>T (n.533+43G>T)
c.1855+43G>T
c.2129+43G>T (n.2129+43G>T)
c.2012+43G>T (n.2012+43G>T)
c.1553+43G>T (n.1553+43G>T)
c.1871+43G>T (n.1871+43G>T)
c.1535+43G>T (n.1535+43G>T)
n.75+5286C>A
dbSNP gnomAD v3 gnomAD v4
6g.39357234C=CA1622646707KIF6c.2180+43G= (n.2180+43G=)
c.533+43G= (n.533+43G=)
c.1855+43G=
c.2129+43G= (n.2129+43G=)
c.2012+43G= (n.2012+43G=)
c.1553+43G= (n.1553+43G=)
c.1871+43G= (n.1871+43G=)
c.1535+43G= (n.1535+43G=)
n.75+5286C=
6g.39357234C>TCA824550415KIF6c.2180+43G>A (n.2180+43G>A)
c.533+43G>A (n.533+43G>A)
c.1855+43G>A
c.2129+43G>A (n.2129+43G>A)
c.2012+43G>A (n.2012+43G>A)
c.1553+43G>A (n.1553+43G>A)
c.1871+43G>A (n.1871+43G>A)
c.1535+43G>A (n.1535+43G>A)
n.75+5286C>T
dbSNP gnomAD v3 gnomAD v4
6g.39357235T>CCA2678627199KIF6c.2180+42A>G (n.2180+42A>G)
c.533+42A>G (n.533+42A>G)
c.1855+42A>G
c.2129+42A>G (n.2129+42A>G)
c.2012+42A>G (n.2012+42A>G)
c.1553+42A>G (n.1553+42A>G)
c.1871+42A>G (n.1871+42A>G)
c.1535+42A>G (n.1535+42A>G)
n.75+5287T>C
gnomAD v4
6g.39357238delCA2578610524KIF6c.2180+42del (n.2180+42del)
c.533+42del (n.533+42del)
c.1855+42del
c.2129+42del (n.2129+42del)
c.2012+42del (n.2012+42del)
c.1553+42del (n.1553+42del)
c.1871+42del (n.1871+42del)
c.1535+42del (n.1535+42del)
n.75+5290del
gnomAD v4
6g.39357236T>CCA3793783KIF6c.2180+41A>G (n.2180+41A>G)
c.533+41A>G (n.533+41A>G)
c.1855+41A>G
c.2129+41A>G (n.2129+41A>G)
c.2012+41A>G (n.2012+41A>G)
c.1553+41A>G (n.1553+41A>G)
c.1871+41A>G (n.1871+41A>G)
c.1535+41A>G (n.1535+41A>G)
n.75+5288T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357236T=CA1622646711KIF6c.2180+41A= (n.2180+41A=)
c.533+41A= (n.533+41A=)
c.1855+41A=
c.2129+41A= (n.2129+41A=)
c.2012+41A= (n.2012+41A=)
c.1553+41A= (n.1553+41A=)
c.1871+41A= (n.1871+41A=)
c.1535+41A= (n.1535+41A=)
n.75+5288T=
6g.39357238T>ACA3793784KIF6c.2180+39A>T (n.2180+39A>T)
c.533+39A>T (n.533+39A>T)
c.1855+39A>T
c.2129+39A>T (n.2129+39A>T)
c.2012+39A>T (n.2012+39A>T)
c.1553+39A>T (n.1553+39A>T)
c.1871+39A>T (n.1871+39A>T)
c.1535+39A>T (n.1535+39A>T)
n.75+5290T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357238T=CA1622646713KIF6c.2180+39A= (n.2180+39A=)
c.533+39A= (n.533+39A=)
c.1855+39A=
c.2129+39A= (n.2129+39A=)
c.2012+39A= (n.2012+39A=)
c.1553+39A= (n.1553+39A=)
c.1871+39A= (n.1871+39A=)
c.1535+39A= (n.1535+39A=)
n.75+5290T=
6g.39357239C>TCA2678627200KIF6c.2180+38G>A (n.2180+38G>A)
c.533+38G>A (n.533+38G>A)
c.1855+38G>A
c.2129+38G>A (n.2129+38G>A)
c.2012+38G>A (n.2012+38G>A)
c.1553+38G>A (n.1553+38G>A)
c.1871+38G>A (n.1871+38G>A)
c.1535+38G>A (n.1535+38G>A)
n.75+5291C>T
gnomAD v4
6g.39357240delCA2711438319KIF6c.2180+37del (n.2180+37del)
c.533+37del (n.533+37del)
c.1855+37del
c.2129+37del (n.2129+37del)
c.2012+37del (n.2012+37del)
c.1553+37del (n.1553+37del)
c.1871+37del (n.1871+37del)
c.1535+37del (n.1535+37del)
n.75+5292del
dbSNP
6g.39357241G>CCA824550420KIF6c.2180+36C>G (n.2180+36C>G)
c.533+36C>G (n.533+36C>G)
c.1855+36C>G
c.2129+36C>G (n.2129+36C>G)
c.2012+36C>G (n.2012+36C>G)
c.1553+36C>G (n.1553+36C>G)
c.1871+36C>G (n.1871+36C>G)
c.1535+36C>G (n.1535+36C>G)
n.75+5293G>C
dbSNP gnomAD v4
6g.39357241G=CA1622646715KIF6c.2180+36C= (n.2180+36C=)
c.533+36C= (n.533+36C=)
c.1855+36C=
c.2129+36C= (n.2129+36C=)
c.2012+36C= (n.2012+36C=)
c.1553+36C= (n.1553+36C=)
c.1871+36C= (n.1871+36C=)
c.1535+36C= (n.1535+36C=)
n.75+5293G=
6g.39357241G>TCA2678627201KIF6c.2180+36C>A (n.2180+36C>A)
c.533+36C>A (n.533+36C>A)
c.1855+36C>A
c.2129+36C>A (n.2129+36C>A)
c.2012+36C>A (n.2012+36C>A)
c.1553+36C>A (n.1553+36C>A)
c.1871+36C>A (n.1871+36C>A)
c.1535+36C>A (n.1535+36C>A)
n.75+5293G>T
gnomAD v4
6g.39357243delCA2678627202KIF6c.2180+36del (n.2180+36del)
c.533+36del (n.533+36del)
c.1855+36del
c.2129+36del (n.2129+36del)
c.2012+36del (n.2012+36del)
c.1553+36del (n.1553+36del)
c.1871+36del (n.1871+36del)
c.1535+36del (n.1535+36del)
n.75+5295del
gnomAD v4
6g.39357242G>ACA824550421KIF6c.2180+35C>T (n.2180+35C>T)
c.533+35C>T (n.533+35C>T)
c.1855+35C>T
c.2129+35C>T (n.2129+35C>T)
c.2012+35C>T (n.2012+35C>T)
c.1553+35C>T (n.1553+35C>T)
c.1871+35C>T (n.1871+35C>T)
c.1535+35C>T (n.1535+35C>T)
n.75+5294G>A
dbSNP gnomAD v3 gnomAD v4
6g.39357242G=CA1622646716KIF6c.2180+35C= (n.2180+35C=)
c.533+35C= (n.533+35C=)
c.1855+35C=
c.2129+35C= (n.2129+35C=)
c.2012+35C= (n.2012+35C=)
c.1553+35C= (n.1553+35C=)
c.1871+35C= (n.1871+35C=)
c.1535+35C= (n.1535+35C=)
n.75+5294G=
6g.39357242G>TCA2678627203KIF6c.2180+35C>A (n.2180+35C>A)
c.533+35C>A (n.533+35C>A)
c.1855+35C>A
c.2129+35C>A (n.2129+35C>A)
c.2012+35C>A (n.2012+35C>A)
c.1553+35C>A (n.1553+35C>A)
c.1871+35C>A (n.1871+35C>A)
c.1535+35C>A (n.1535+35C>A)
n.75+5294G>T
gnomAD v4
6g.39357243G>ACA2578610525KIF6c.2180+34C>T (n.2180+34C>T)
c.533+34C>T (n.533+34C>T)
c.1855+34C>T
c.2129+34C>T (n.2129+34C>T)
c.2012+34C>T (n.2012+34C>T)
c.1553+34C>T (n.1553+34C>T)
c.1871+34C>T (n.1871+34C>T)
c.1535+34C>T (n.1535+34C>T)
n.75+5295G>A
6g.39357243G>TCA2678627204KIF6c.2180+34C>A (n.2180+34C>A)
c.533+34C>A (n.533+34C>A)
c.1855+34C>A
c.2129+34C>A (n.2129+34C>A)
c.2012+34C>A (n.2012+34C>A)
c.1553+34C>A (n.1553+34C>A)
c.1871+34C>A (n.1871+34C>A)
c.1535+34C>A (n.1535+34C>A)
n.75+5295G>T
gnomAD v4
6g.39357244A=CA1622646718KIF6c.2180+33T= (n.2180+33T=)
c.533+33T= (n.533+33T=)
c.1855+33T=
c.2129+33T= (n.2129+33T=)
c.2012+33T= (n.2012+33T=)
c.1553+33T= (n.1553+33T=)
c.1871+33T= (n.1871+33T=)
c.1535+33T= (n.1535+33T=)
n.75+5296A=
6g.39357244A>CCA3793785KIF6c.2180+33T>G (n.2180+33T>G)
c.533+33T>G (n.533+33T>G)
c.1855+33T>G
c.2129+33T>G (n.2129+33T>G)
c.2012+33T>G (n.2012+33T>G)
c.1553+33T>G (n.1553+33T>G)
c.1871+33T>G (n.1871+33T>G)
c.1535+33T>G (n.1535+33T>G)
n.75+5296A>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357246C>TCA2678627205KIF6c.2180+31G>A (n.2180+31G>A)
c.533+31G>A (n.533+31G>A)
c.1855+31G>A
c.2129+31G>A (n.2129+31G>A)
c.2012+31G>A (n.2012+31G>A)
c.1553+31G>A (n.1553+31G>A)
c.1871+31G>A (n.1871+31G>A)
c.1535+31G>A (n.1535+31G>A)
n.75+5298C>T
gnomAD v4
6g.39357247T>CCA1622646723KIF6c.2180+30A>G (n.2180+30A>G)
c.533+30A>G (n.533+30A>G)
c.1855+30A>G
c.2129+30A>G (n.2129+30A>G)
c.2012+30A>G (n.2012+30A>G)
c.1553+30A>G (n.1553+30A>G)
c.1871+30A>G (n.1871+30A>G)
c.1535+30A>G (n.1535+30A>G)
n.75+5299T>C
dbSNP
6g.39357247T=CA1622646722KIF6c.2180+30A= (n.2180+30A=)
c.533+30A= (n.533+30A=)
c.1855+30A=
c.2129+30A= (n.2129+30A=)
c.2012+30A= (n.2012+30A=)
c.1553+30A= (n.1553+30A=)
c.1871+30A= (n.1871+30A=)
c.1535+30A= (n.1535+30A=)
n.75+5299T=
6g.39357248C=CA1622646726KIF6c.2180+29G= (n.2180+29G=)
c.533+29G= (n.533+29G=)
c.1855+29G=
c.2129+29G= (n.2129+29G=)
c.2012+29G= (n.2012+29G=)
c.1553+29G= (n.1553+29G=)
c.1871+29G= (n.1871+29G=)
c.1535+29G= (n.1535+29G=)
n.75+5300C=
6g.39357248C>GCA3793786KIF6c.2180+29G>C (n.2180+29G>C)
c.533+29G>C (n.533+29G>C)
c.1855+29G>C
c.2129+29G>C (n.2129+29G>C)
c.2012+29G>C (n.2012+29G>C)
c.1553+29G>C (n.1553+29G>C)
c.1871+29G>C (n.1871+29G>C)
c.1535+29G>C (n.1535+29G>C)
n.75+5300C>G
dbSNP ExAC gnomAD v4
6g.39357249T>CCA2678627206KIF6c.2180+28A>G (n.2180+28A>G)
c.533+28A>G (n.533+28A>G)
c.1855+28A>G
c.2129+28A>G (n.2129+28A>G)
c.2012+28A>G (n.2012+28A>G)
c.1553+28A>G (n.1553+28A>G)
c.1871+28A>G (n.1871+28A>G)
c.1535+28A>G (n.1535+28A>G)
n.75+5301T>C
gnomAD v4
6g.39357249T>GCA1622646729KIF6c.2180+28A>C (n.2180+28A>C)
c.533+28A>C (n.533+28A>C)
c.1855+28A>C
c.2129+28A>C (n.2129+28A>C)
c.2012+28A>C (n.2012+28A>C)
c.1553+28A>C (n.1553+28A>C)
c.1871+28A>C (n.1871+28A>C)
c.1535+28A>C (n.1535+28A>C)
n.75+5301T>G
dbSNP gnomAD v4
6g.39357249T=CA1622646730KIF6c.2180+28A= (n.2180+28A=)
c.533+28A= (n.533+28A=)
c.1855+28A=
c.2129+28A= (n.2129+28A=)
c.2012+28A= (n.2012+28A=)
c.1553+28A= (n.1553+28A=)
c.1871+28A= (n.1871+28A=)
c.1535+28A= (n.1535+28A=)
n.75+5301T=
6g.39357249dupCA137717068KIF6c.2180+28dup (n.2180+28dup)
c.533+28dup (n.533+28dup)
c.1855+28dup
c.2129+28dup (n.2129+28dup)
c.2012+28dup (n.2012+28dup)
c.1553+28dup (n.1553+28dup)
c.1871+28dup (n.1871+28dup)
c.1535+28dup (n.1535+28dup)
n.75+5301dup
dbSNP
6g.39357251A>GCA2678627207KIF6c.2180+26T>C (n.2180+26T>C)
c.533+26T>C (n.533+26T>C)
c.1855+26T>C
c.2129+26T>C (n.2129+26T>C)
c.2012+26T>C (n.2012+26T>C)
c.1553+26T>C (n.1553+26T>C)
c.1871+26T>C (n.1871+26T>C)
c.1535+26T>C (n.1535+26T>C)
n.75+5303A>G
gnomAD v4
6g.39357251A>TCA2678627208KIF6c.2180+26T>A (n.2180+26T>A)
c.533+26T>A (n.533+26T>A)
c.1855+26T>A
c.2129+26T>A (n.2129+26T>A)
c.2012+26T>A (n.2012+26T>A)
c.1553+26T>A (n.1553+26T>A)
c.1871+26T>A (n.1871+26T>A)
c.1535+26T>A (n.1535+26T>A)
n.75+5303A>T
gnomAD v4
6g.39357252C>ACA3793787KIF6c.2180+25G>T (n.2180+25G>T)
c.533+25G>T (n.533+25G>T)
c.1855+25G>T
c.2129+25G>T (n.2129+25G>T)
c.2012+25G>T (n.2012+25G>T)
c.1553+25G>T (n.1553+25G>T)
c.1871+25G>T (n.1871+25G>T)
c.1535+25G>T (n.1535+25G>T)
n.75+5304C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357252C=CA1622646732KIF6c.2180+25G= (n.2180+25G=)
c.533+25G= (n.533+25G=)
c.1855+25G=
c.2129+25G= (n.2129+25G=)
c.2012+25G= (n.2012+25G=)
c.1553+25G= (n.1553+25G=)
c.1871+25G= (n.1871+25G=)
c.1535+25G= (n.1535+25G=)
n.75+5304C=
6g.39357252C>TCA824550429KIF6c.2180+25G>A (n.2180+25G>A)
c.533+25G>A (n.533+25G>A)
c.1855+25G>A
c.2129+25G>A (n.2129+25G>A)
c.2012+25G>A (n.2012+25G>A)
c.1553+25G>A (n.1553+25G>A)
c.1871+25G>A (n.1871+25G>A)
c.1535+25G>A (n.1535+25G>A)
n.75+5304C>T
dbSNP gnomAD v3 gnomAD v4
6g.39357253A>GCA2578610526KIF6c.2180+24T>C (n.2180+24T>C)
c.533+24T>C (n.533+24T>C)
c.1855+24T>C
c.2129+24T>C (n.2129+24T>C)
c.2012+24T>C (n.2012+24T>C)
c.1553+24T>C (n.1553+24T>C)
c.1871+24T>C (n.1871+24T>C)
c.1535+24T>C (n.1535+24T>C)
n.75+5305A>G
6g.39357254C>ACA2678627209KIF6c.2180+23G>T (n.2180+23G>T)
c.533+23G>T (n.533+23G>T)
c.1855+23G>T
c.2129+23G>T (n.2129+23G>T)
c.2012+23G>T (n.2012+23G>T)
c.1553+23G>T (n.1553+23G>T)
c.1871+23G>T (n.1871+23G>T)
c.1535+23G>T (n.1535+23G>T)
n.75+5306C>A
gnomAD v4
6g.39357254C=CA1622646735KIF6c.2180+23G= (n.2180+23G=)
c.533+23G= (n.533+23G=)
c.1855+23G=
c.2129+23G= (n.2129+23G=)
c.2012+23G= (n.2012+23G=)
c.1553+23G= (n.1553+23G=)
c.1871+23G= (n.1871+23G=)
c.1535+23G= (n.1535+23G=)
n.75+5306C=
6g.39357254C>TCA566664961KIF6c.2180+23G>A (n.2180+23G>A)
c.533+23G>A (n.533+23G>A)
c.1855+23G>A
c.2129+23G>A (n.2129+23G>A)
c.2012+23G>A (n.2012+23G>A)
c.1553+23G>A (n.1553+23G>A)
c.1871+23G>A (n.1871+23G>A)
c.1535+23G>A (n.1535+23G>A)
n.75+5306C>T
dbSNP gnomAD v2 gnomAD v4
6g.39357255C>ACA2578610527KIF6c.2180+22G>T (n.2180+22G>T)
c.533+22G>T (n.533+22G>T)
c.1855+22G>T
c.2129+22G>T (n.2129+22G>T)
c.2012+22G>T (n.2012+22G>T)
c.1553+22G>T (n.1553+22G>T)
c.1871+22G>T (n.1871+22G>T)
c.1535+22G>T (n.1535+22G>T)
n.75+5307C>A
6g.39357255C>TCA2678627210KIF6c.2180+22G>A (n.2180+22G>A)
c.533+22G>A (n.533+22G>A)
c.1855+22G>A
c.2129+22G>A (n.2129+22G>A)
c.2012+22G>A (n.2012+22G>A)
c.1553+22G>A (n.1553+22G>A)
c.1871+22G>A (n.1871+22G>A)
c.1535+22G>A (n.1535+22G>A)
n.75+5307C>T
gnomAD v4
6g.39357256T>GCA2678627211KIF6c.2180+21A>C (n.2180+21A>C)
c.533+21A>C (n.533+21A>C)
c.1855+21A>C
c.2129+21A>C (n.2129+21A>C)
c.2012+21A>C (n.2012+21A>C)
c.1553+21A>C (n.1553+21A>C)
c.1871+21A>C (n.1871+21A>C)
c.1535+21A>C (n.1535+21A>C)
n.75+5308T>G
gnomAD v4
6g.39357257C=CA1622646736KIF6c.2180+20G= (n.2180+20G=)
c.533+20G= (n.533+20G=)
c.1855+20G=
c.2129+20G= (n.2129+20G=)
c.2012+20G= (n.2012+20G=)
c.1553+20G= (n.1553+20G=)
c.1871+20G= (n.1871+20G=)
c.1535+20G= (n.1535+20G=)
n.75+5309C=
6g.39357257C>TCA3793788KIF6c.2180+20G>A (n.2180+20G>A)
c.533+20G>A (n.533+20G>A)
c.1855+20G>A
c.2129+20G>A (n.2129+20G>A)
c.2012+20G>A (n.2012+20G>A)
c.1553+20G>A (n.1553+20G>A)
c.1871+20G>A (n.1871+20G>A)
c.1535+20G>A (n.1535+20G>A)
n.75+5309C>T
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357258C>ACA566664962KIF6c.2180+19G>T (n.2180+19G>T)
c.533+19G>T (n.533+19G>T)
c.1855+19G>T
c.2129+19G>T (n.2129+19G>T)
c.2012+19G>T (n.2012+19G>T)
c.1553+19G>T (n.1553+19G>T)
c.1871+19G>T (n.1871+19G>T)
c.1535+19G>T (n.1535+19G>T)
n.75+5310C>A
dbSNP gnomAD v2 gnomAD v4
6g.39357258C=CA1622646741KIF6c.2180+19G= (n.2180+19G=)
c.533+19G= (n.533+19G=)
c.1855+19G=
c.2129+19G= (n.2129+19G=)
c.2012+19G= (n.2012+19G=)
c.1553+19G= (n.1553+19G=)
c.1871+19G= (n.1871+19G=)
c.1535+19G= (n.1535+19G=)
n.75+5310C=
6g.39357258C>TCA3793789KIF6c.2180+19G>A (n.2180+19G>A)
c.533+19G>A (n.533+19G>A)
c.1855+19G>A
c.2129+19G>A (n.2129+19G>A)
c.2012+19G>A (n.2012+19G>A)
c.1553+19G>A (n.1553+19G>A)
c.1871+19G>A (n.1871+19G>A)
c.1535+19G>A (n.1535+19G>A)
n.75+5310C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357259G>ACA3793790KIF6c.2180+18C>T (n.2180+18C>T)
c.533+18C>T (n.533+18C>T)
c.1855+18C>T
c.2129+18C>T (n.2129+18C>T)
c.2012+18C>T (n.2012+18C>T)
c.1553+18C>T (n.1553+18C>T)
c.1871+18C>T (n.1871+18C>T)
c.1535+18C>T (n.1535+18C>T)
n.75+5311G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357259G=CA1622646743KIF6c.2180+18C= (n.2180+18C=)
c.533+18C= (n.533+18C=)
c.1855+18C=
c.2129+18C= (n.2129+18C=)
c.2012+18C= (n.2012+18C=)
c.1553+18C= (n.1553+18C=)
c.1871+18C= (n.1871+18C=)
c.1535+18C= (n.1535+18C=)
n.75+5311G=
6g.39357259G>TCA2528162637KIF6c.2180+18C>A (n.2180+18C>A)
c.533+18C>A (n.533+18C>A)
c.1855+18C>A
c.2129+18C>A (n.2129+18C>A)
c.2012+18C>A (n.2012+18C>A)
c.1553+18C>A (n.1553+18C>A)
c.1871+18C>A (n.1871+18C>A)
c.1535+18C>A (n.1535+18C>A)
n.75+5311G>T
gnomAD v4
6g.39357260delCA2578610528KIF6c.2180+18del (n.2180+18del)
c.533+18del (n.533+18del)
c.1855+18del
c.2129+18del (n.2129+18del)
c.2012+18del (n.2012+18del)
c.1553+18del (n.1553+18del)
c.1871+18del (n.1871+18del)
c.1535+18del (n.1535+18del)
n.75+5312del
6g.39357260G>ACA2678627212KIF6c.2180+17C>T (n.2180+17C>T)
c.533+17C>T (n.533+17C>T)
c.1855+17C>T
c.2129+17C>T (n.2129+17C>T)
c.2012+17C>T (n.2012+17C>T)
c.1553+17C>T (n.1553+17C>T)
c.1871+17C>T (n.1871+17C>T)
c.1535+17C>T (n.1535+17C>T)
n.75+5312G>A
gnomAD v4
6g.39357260G>TCA2678627213KIF6c.2180+17C>A (n.2180+17C>A)
c.533+17C>A (n.533+17C>A)
c.1855+17C>A
c.2129+17C>A (n.2129+17C>A)
c.2012+17C>A (n.2012+17C>A)
c.1553+17C>A (n.1553+17C>A)
c.1871+17C>A (n.1871+17C>A)
c.1535+17C>A (n.1535+17C>A)
n.75+5312G>T
gnomAD v4
6g.39357261T>ACA915289161KIF6c.2180+16A>T (n.2180+16A>T)
c.533+16A>T (n.533+16A>T)
c.1855+16A>T
c.2129+16A>T (n.2129+16A>T)
c.2012+16A>T (n.2012+16A>T)
c.1553+16A>T (n.1553+16A>T)
c.1871+16A>T (n.1871+16A>T)
c.1535+16A>T (n.1535+16A>T)
n.75+5313T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.39357261T>CCA2578610529KIF6c.2180+16A>G (n.2180+16A>G)
c.533+16A>G (n.533+16A>G)
c.1855+16A>G
c.2129+16A>G (n.2129+16A>G)
c.2012+16A>G (n.2012+16A>G)
c.1553+16A>G (n.1553+16A>G)
c.1871+16A>G (n.1871+16A>G)
c.1535+16A>G (n.1535+16A>G)
n.75+5313T>C
6g.39357261T>GCA1622646748KIF6c.2180+16A>C (n.2180+16A>C)
c.533+16A>C (n.533+16A>C)
c.1855+16A>C
c.2129+16A>C (n.2129+16A>C)
c.2012+16A>C (n.2012+16A>C)
c.1553+16A>C (n.1553+16A>C)
c.1871+16A>C (n.1871+16A>C)
c.1535+16A>C (n.1535+16A>C)
n.75+5313T>G
dbSNP gnomAD v4
6g.39357261T=CA1622646747KIF6c.2180+16A= (n.2180+16A=)
c.533+16A= (n.533+16A=)
c.1855+16A=
c.2129+16A= (n.2129+16A=)
c.2012+16A= (n.2012+16A=)
c.1553+16A= (n.1553+16A=)
c.1871+16A= (n.1871+16A=)
c.1535+16A= (n.1535+16A=)
n.75+5313T=
6g.39357262G>TCA2678627214KIF6c.2180+15C>A (n.2180+15C>A)
c.533+15C>A (n.533+15C>A)
c.1855+15C>A
c.2129+15C>A (n.2129+15C>A)
c.2012+15C>A (n.2012+15C>A)
c.1553+15C>A (n.1553+15C>A)
c.1871+15C>A (n.1871+15C>A)
c.1535+15C>A (n.1535+15C>A)
n.75+5314G>T
gnomAD v4
6g.39357264G>TCA2678627215KIF6c.2180+13C>A (n.2180+13C>A)
c.533+13C>A (n.533+13C>A)
c.1855+13C>A
c.2129+13C>A (n.2129+13C>A)
c.2012+13C>A (n.2012+13C>A)
c.1553+13C>A (n.1553+13C>A)
c.1871+13C>A (n.1871+13C>A)
c.1535+13C>A (n.1535+13C>A)
n.75+5316G>T
gnomAD v4
6g.39357265T>CCA2770733399KIF6c.2180+12A>G (n.2180+12A>G)
c.533+12A>G (n.533+12A>G)
c.1855+12A>G
c.2129+12A>G (n.2129+12A>G)
c.2012+12A>G (n.2012+12A>G)
c.1553+12A>G (n.1553+12A>G)
c.1871+12A>G (n.1871+12A>G)
c.1535+12A>G (n.1535+12A>G)
n.75+5317T>C
6g.39357267C>TCA2504785040KIF6c.2180+10G>A (n.2180+10G>A)
c.533+10G>A (n.533+10G>A)
c.1855+10G>A
c.2129+10G>A (n.2129+10G>A)
c.2012+10G>A (n.2012+10G>A)
c.1553+10G>A (n.1553+10G>A)
c.1871+10G>A (n.1871+10G>A)
c.1535+10G>A (n.1535+10G>A)
n.75+5319C>T
6g.39357268T>CCA2678627216KIF6c.2180+9A>G (n.2180+9A>G)
c.533+9A>G (n.533+9A>G)
c.1855+9A>G
c.2129+9A>G (n.2129+9A>G)
c.2012+9A>G (n.2012+9A>G)
c.1553+9A>G (n.1553+9A>G)
c.1871+9A>G (n.1871+9A>G)
c.1535+9A>G (n.1535+9A>G)
n.75+5320T>C
gnomAD v4
6g.39357268T>GCA1622646751KIF6c.2180+9A>C (n.2180+9A>C)
c.533+9A>C (n.533+9A>C)
c.1855+9A>C
c.2129+9A>C (n.2129+9A>C)
c.2012+9A>C (n.2012+9A>C)
c.1553+9A>C (n.1553+9A>C)
c.1871+9A>C (n.1871+9A>C)
c.1535+9A>C (n.1535+9A>C)
n.75+5320T>G
dbSNP gnomAD v4
6g.39357268T=CA1622646750KIF6c.2180+9A= (n.2180+9A=)
c.533+9A= (n.533+9A=)
c.1855+9A=
c.2129+9A= (n.2129+9A=)
c.2012+9A= (n.2012+9A=)
c.1553+9A= (n.1553+9A=)
c.1871+9A= (n.1871+9A=)
c.1535+9A= (n.1535+9A=)
n.75+5320T=
6g.39357269C>TCA2544410452KIF6c.2180+8G>A (n.2180+8G>A)
c.533+8G>A (n.533+8G>A)
c.1855+8G>A
c.2129+8G>A (n.2129+8G>A)
c.2012+8G>A (n.2012+8G>A)
c.1553+8G>A (n.1553+8G>A)
c.1871+8G>A (n.1871+8G>A)
c.1535+8G>A (n.1535+8G>A)
n.75+5321C>T
gnomAD v4
6g.39357271C>TCA2506034704KIF6c.2180+6G>A (n.2180+6G>A)
c.533+6G>A (n.533+6G>A)
c.1855+6G>A
c.2129+6G>A (n.2129+6G>A)
c.2012+6G>A (n.2012+6G>A)
c.1553+6G>A (n.1553+6G>A)
c.1871+6G>A (n.1871+6G>A)
c.1535+6G>A (n.1535+6G>A)
n.75+5323C>T
6g.39357272C>TCA2539950994KIF6c.2180+5G>A (n.2180+5G>A)
c.533+5G>A (n.533+5G>A)
c.1855+5G>A
c.2129+5G>A (n.2129+5G>A)
c.2012+5G>A (n.2012+5G>A)
c.1553+5G>A (n.1553+5G>A)
c.1871+5G>A (n.1871+5G>A)
c.1535+5G>A (n.1535+5G>A)
n.75+5324C>T
gnomAD v4
6g.39357274delCA2678627217KIF6c.2180+4del (n.2180+4del)
c.533+4del (n.533+4del)
c.1855+4del
c.2129+4del (n.2129+4del)
c.2012+4del (n.2012+4del)
c.1553+4del (n.1553+4del)
c.1871+4del (n.1871+4del)
c.1535+4del (n.1535+4del)
n.75+5326del
gnomAD v4
6g.39357275A=CA1622646753KIF6c.2180+2T= (n.2180+2T=)
c.533+2T= (n.533+2T=)
c.1855+2T=
c.2129+2T= (n.2129+2T=)
c.2012+2T= (n.2012+2T=)
c.1553+2T= (n.1553+2T=)
c.1871+2T= (n.1871+2T=)
c.1535+2T= (n.1535+2T=)
n.75+5327A=
6g.39357275A>CCA364349998KIF6c.2180+2T>G (n.2180+2T>G)
c.533+2T>G (n.533+2T>G)
c.1855+2T>G
c.2129+2T>G (n.2129+2T>G)
c.2012+2T>G (n.2012+2T>G)
c.1553+2T>G (n.1553+2T>G)
c.1871+2T>G (n.1871+2T>G)
c.1535+2T>G (n.1535+2T>G)
n.75+5327A>C
6g.39357275A>GCA364349997KIF6c.2180+2T>C (n.2180+2T>C)
c.533+2T>C (n.533+2T>C)
c.1855+2T>C
c.2129+2T>C (n.2129+2T>C)
c.2012+2T>C (n.2012+2T>C)
c.1553+2T>C (n.1553+2T>C)
c.1871+2T>C (n.1871+2T>C)
c.1535+2T>C (n.1535+2T>C)
n.75+5327A>G
6g.39357275A>TCA364349996KIF6c.2180+2T>A (n.2180+2T>A)
c.533+2T>A (n.533+2T>A)
c.1855+2T>A
c.2129+2T>A (n.2129+2T>A)
c.2012+2T>A (n.2012+2T>A)
c.1553+2T>A (n.1553+2T>A)
c.1871+2T>A (n.1871+2T>A)
c.1535+2T>A (n.1535+2T>A)
n.75+5327A>T
dbSNP
6g.39357276C>ACA364349999KIF6c.2180+1G>T (n.2180+1G>T)
c.533+1G>T (n.533+1G>T)
c.1855+1G>T
c.2129+1G>T (n.2129+1G>T)
c.2012+1G>T (n.2012+1G>T)
c.1553+1G>T (n.1553+1G>T)
c.1871+1G>T (n.1871+1G>T)
c.1535+1G>T (n.1535+1G>T)
n.75+5328C>A
6g.39357276C=CA1622646754KIF6c.2180+1G= (n.2180+1G=)
c.533+1G= (n.533+1G=)
c.1855+1G=
c.2129+1G= (n.2129+1G=)
c.2012+1G= (n.2012+1G=)
c.1553+1G= (n.1553+1G=)
c.1871+1G= (n.1871+1G=)
c.1535+1G= (n.1535+1G=)
n.75+5328C=
6g.39357276C>GCA364350000KIF6c.2180+1G>C (n.2180+1G>C)
c.533+1G>C (n.533+1G>C)
c.1855+1G>C
c.2129+1G>C (n.2129+1G>C)
c.2012+1G>C (n.2012+1G>C)
c.1553+1G>C (n.1553+1G>C)
c.1871+1G>C (n.1871+1G>C)
c.1535+1G>C (n.1535+1G>C)
n.75+5328C>G
6g.39357276C>TCA364350001KIF6c.2180+1G>A (n.2180+1G>A)
c.533+1G>A (n.533+1G>A)
c.1855+1G>A
c.2129+1G>A (n.2129+1G>A)
c.2012+1G>A (n.2012+1G>A)
c.1553+1G>A (n.1553+1G>A)
c.1871+1G>A (n.1871+1G>A)
c.1535+1G>A (n.1535+1G>A)
n.75+5328C>T
dbSNP gnomAD v2 gnomAD v4
6g.39357277C>ACA364350002KIF6c.2180G>T (p.Ser727Ile)
c.533G>T (p.Ser178Ile)
c.1855G>T
c.2129G>T (p.Ser710Ile)
c.2012G>T (p.Ser671Ile)
c.1553G>T (p.Ser518Ile)
c.1871G>T (p.Ser624Ile)
c.1535G>T (p.Ser512Ile)
n.75+5329C>A
gnomAD v4
6g.39357277C>GCA364350003KIF6c.2180G>C (p.Ser727Thr)
c.533G>C (p.Ser178Thr)
c.1855G>C
c.2129G>C (p.Ser710Thr)
c.2012G>C (p.Ser671Thr)
c.1553G>C (p.Ser518Thr)
c.1871G>C (p.Ser624Thr)
c.1535G>C (p.Ser512Thr)
n.75+5329C>G
gnomAD v4
6g.39357277C>TCA364350004KIF6c.2180G>A (p.Ser727Asn)
c.533G>A (p.Ser178Asn)
c.1855G>A
c.2129G>A (p.Ser710Asn)
c.2012G>A (p.Ser671Asn)
c.1553G>A (p.Ser518Asn)
c.1871G>A (p.Ser624Asn)
c.1535G>A (p.Ser512Asn)
n.75+5329C>T
gnomAD v4
6g.39357278T>ACA364350005KIF6c.2179A>T (p.Ser727Cys)
c.532A>T (p.Ser178Cys)
c.1854A>T
c.2128A>T (p.Ser710Cys)
c.2011A>T (p.Ser671Cys)
c.1552A>T (p.Ser518Cys)
c.1870A>T (p.Ser624Cys)
c.1534A>T (p.Ser512Cys)
n.75+5330T>A
6g.39357278T>CCA364350007KIF6c.2179A>G (p.Ser727Gly)
c.532A>G (p.Ser178Gly)
c.1854A>G
c.2128A>G (p.Ser710Gly)
c.2011A>G (p.Ser671Gly)
c.1552A>G (p.Ser518Gly)
c.1870A>G (p.Ser624Gly)
c.1534A>G (p.Ser512Gly)
n.75+5330T>C
6g.39357278T>GCA364350006KIF6c.2179A>C (p.Ser727Arg)
c.532A>C (p.Ser178Arg)
c.1854A>C
c.2128A>C (p.Ser710Arg)
c.2011A>C (p.Ser671Arg)
c.1552A>C (p.Ser518Arg)
c.1870A>C (p.Ser624Arg)
c.1534A>C (p.Ser512Arg)
n.75+5330T>G
6g.39357281delCA2678627218KIF6c.2179del (p.Ser727ValfsTer20)
c.532del (p.Ser178ValfsTer20)
c.532del (p.Ser178ValfsTer3)
c.1854del
c.2128del (p.Ser710ValfsTer20)
c.2011del (p.Ser671ValfsTer20)
c.2179del (p.Ser727ValfsTer3)
c.1552del (p.Ser518ValfsTer20)
c.1870del (p.Ser624ValfsTer20)
c.1534del (p.Ser512ValfsTer20)
n.75+5333del
gnomAD v4
6g.39357279_39357281delCA2678627219KIF6c.2177_2179del (p.Lys726del)
c.530_532del (p.Lys177del)
c.1852_1854del
c.2126_2128del (p.Lys709del)
c.2009_2011del (p.Lys670del)
c.1550_1552del (p.Lys517del)
c.1868_1870del (p.Lys623del)
c.1532_1534del (p.Lys511del)
n.75+5331_75+5333del
gnomAD v4
6g.39357279T>ACA364350008KIF6c.2178A>T (p.Lys726Asn)
c.531A>T (p.Lys177Asn)
c.1853A>T
c.2127A>T (p.Lys709Asn)
c.2010A>T (p.Lys670Asn)
c.1551A>T (p.Lys517Asn)
c.1869A>T (p.Lys623Asn)
c.1533A>T (p.Lys511Asn)
n.75+5331T>A
6g.39357279T>CCA450098174KIF6c.2178A>G (p.Lys726=)
c.531A>G (p.Lys177=)
c.1853A>G
c.2127A>G (p.Lys709=)
c.2010A>G (p.Lys670=)
c.1551A>G (p.Lys517=)
c.1869A>G (p.Lys623=)
c.1533A>G (p.Lys511=)
n.75+5331T>C
6g.39357279T>GCA364350009KIF6c.2178A>C (p.Lys726Asn)
c.531A>C (p.Lys177Asn)
c.1853A>C
c.2127A>C (p.Lys709Asn)
c.2010A>C (p.Lys670Asn)
c.1551A>C (p.Lys517Asn)
c.1869A>C (p.Lys623Asn)
c.1533A>C (p.Lys511Asn)
n.75+5331T>G
gnomAD v4
6g.39357280T>ACA364350010KIF6c.2177A>T (p.Lys726Ile)
c.530A>T (p.Lys177Ile)
c.1852A>T
c.2126A>T (p.Lys709Ile)
c.2009A>T (p.Lys670Ile)
c.1550A>T (p.Lys517Ile)
c.1868A>T (p.Lys623Ile)
c.1532A>T (p.Lys511Ile)
n.75+5332T>A
6g.39357280T>CCA364350011KIF6c.2177A>G (p.Lys726Arg)
c.530A>G (p.Lys177Arg)
c.1852A>G
c.2126A>G (p.Lys709Arg)
c.2009A>G (p.Lys670Arg)
c.1550A>G (p.Lys517Arg)
c.1868A>G (p.Lys623Arg)
c.1532A>G (p.Lys511Arg)
n.75+5332T>C
6g.39357280T>GCA364350012KIF6c.2177A>C (p.Lys726Thr)
c.530A>C (p.Lys177Thr)
c.1852A>C
c.2126A>C (p.Lys709Thr)
c.2009A>C (p.Lys670Thr)
c.1550A>C (p.Lys517Thr)
c.1868A>C (p.Lys623Thr)
c.1532A>C (p.Lys511Thr)
n.75+5332T>G
gnomAD v4
6g.39357281T>ACA364350013KIF6c.2176A>T (p.Lys726Ter)
c.529A>T (p.Lys177Ter)
c.1851A>T
c.2125A>T (p.Lys709Ter)
c.2008A>T (p.Lys670Ter)
c.1549A>T (p.Lys517Ter)
c.1867A>T (p.Lys623Ter)
c.1531A>T (p.Lys511Ter)
n.75+5333T>A
6g.39357281T>CCA3793791KIF6c.2176A>G (p.Lys726Glu)
c.529A>G (p.Lys177Glu)
c.1851A>G
c.2125A>G (p.Lys709Glu)
c.2008A>G (p.Lys670Glu)
c.1549A>G (p.Lys517Glu)
c.1867A>G (p.Lys623Glu)
c.1531A>G (p.Lys511Glu)
n.75+5333T>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357281T>GCA364350014KIF6c.2176A>C (p.Lys726Gln)
c.529A>C (p.Lys177Gln)
c.1851A>C
c.2125A>C (p.Lys709Gln)
c.2008A>C (p.Lys670Gln)
c.1549A>C (p.Lys517Gln)
c.1867A>C (p.Lys623Gln)
c.1531A>C (p.Lys511Gln)
n.75+5333T>G
6g.39357281T=CA1622646756KIF6c.2176A= (p.Lys726=)
c.529A= (p.Lys177=)
c.1851A=
c.2125A= (p.Lys709=)
c.2008A= (p.Lys670=)
c.1549A= (p.Lys517=)
c.1867A= (p.Lys623=)
c.1531A= (p.Lys511=)
n.75+5333T=
6g.39357282G>ACA3793792KIF6c.2175C>T (p.Asn725=)
c.528C>T (p.Asn176=)
c.1850C>T
c.2124C>T (p.Asn708=)
c.2007C>T (p.Asn669=)
c.1548C>T (p.Asn516=)
c.1866C>T (p.Asn622=)
c.1530C>T (p.Asn510=)
n.75+5334G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357282G>CCA364350015KIF6c.2175C>G (p.Asn725Lys)
c.528C>G (p.Asn176Lys)
c.1850C>G
c.2124C>G (p.Asn708Lys)
c.2007C>G (p.Asn669Lys)
c.1548C>G (p.Asn516Lys)
c.1866C>G (p.Asn622Lys)
c.1530C>G (p.Asn510Lys)
n.75+5334G>C
6g.39357282G=CA1622646759KIF6c.2175C= (p.Asn725=)
c.528C= (p.Asn176=)
c.1850C=
c.2124C= (p.Asn708=)
c.2007C= (p.Asn669=)
c.1548C= (p.Asn516=)
c.1866C= (p.Asn622=)
c.1530C= (p.Asn510=)
n.75+5334G=
6g.39357282G>TCA364350016KIF6c.2175C>A (p.Asn725Lys)
c.528C>A (p.Asn176Lys)
c.1850C>A
c.2124C>A (p.Asn708Lys)
c.2007C>A (p.Asn669Lys)
c.1548C>A (p.Asn516Lys)
c.1866C>A (p.Asn622Lys)
c.1530C>A (p.Asn510Lys)
n.75+5334G>T
gnomAD v4
6g.39357283T>ACA364350017KIF6c.2174A>T (p.Asn725Ile)
c.527A>T (p.Asn176Ile)
c.1849A>T
c.2123A>T (p.Asn708Ile)
c.2006A>T (p.Asn669Ile)
c.1547A>T (p.Asn516Ile)
c.1865A>T (p.Asn622Ile)
c.1529A>T (p.Asn510Ile)
n.75+5335T>A
6g.39357283T>CCA364350019KIF6c.2174A>G (p.Asn725Ser)
c.527A>G (p.Asn176Ser)
c.1849A>G
c.2123A>G (p.Asn708Ser)
c.2006A>G (p.Asn669Ser)
c.1547A>G (p.Asn516Ser)
c.1865A>G (p.Asn622Ser)
c.1529A>G (p.Asn510Ser)
n.75+5335T>C
6g.39357283T>GCA364350018KIF6c.2174A>C (p.Asn725Thr)
c.527A>C (p.Asn176Thr)
c.1849A>C
c.2123A>C (p.Asn708Thr)
c.2006A>C (p.Asn669Thr)
c.1547A>C (p.Asn516Thr)
c.1865A>C (p.Asn622Thr)
c.1529A>C (p.Asn510Thr)
n.75+5335T>G
gnomAD v4
6g.39357284T>ACA364350020KIF6c.2173A>T (p.Asn725Tyr)
c.526A>T (p.Asn176Tyr)
c.1848A>T
c.2122A>T (p.Asn708Tyr)
c.2005A>T (p.Asn669Tyr)
c.1546A>T (p.Asn516Tyr)
c.1864A>T (p.Asn622Tyr)
c.1528A>T (p.Asn510Tyr)
n.75+5336T>A
6g.39357284T>CCA364350022KIF6c.2173A>G (p.Asn725Asp)
c.526A>G (p.Asn176Asp)
c.1848A>G
c.2122A>G (p.Asn708Asp)
c.2005A>G (p.Asn669Asp)
c.1546A>G (p.Asn516Asp)
c.1864A>G (p.Asn622Asp)
c.1528A>G (p.Asn510Asp)
n.75+5336T>C
6g.39357284T>GCA364350021KIF6c.2173A>C (p.Asn725His)
c.526A>C (p.Asn176His)
c.1848A>C
c.2122A>C (p.Asn708His)
c.2005A>C (p.Asn669His)
c.1546A>C (p.Asn516His)
c.1864A>C (p.Asn622His)
c.1528A>C (p.Asn510His)
n.75+5336T>G
gnomAD v4
6g.39357284_39357288delinsTAGAGCA1622646761KIF6c.2169_2173delinsCTCTA (p.Leu723=)
c.522_526delinsCTCTA (p.Leu174=)
c.1844_1848delinsCTCTA
c.2118_2122delinsCTCTA (p.Leu706=)
c.2001_2005delinsCTCTA (p.Leu667=)
c.1542_1546delinsCTCTA (p.Leu514=)
c.1860_1864delinsCTCTA (p.Leu620=)
c.1524_1528delinsCTCTA (p.Leu508=)
n.75+5336_75+5340delinsTAGAG
6g.39357285A>CCA450098175KIF6c.2172T>G (p.Ser724=)
c.525T>G (p.Ser175=)
c.1847T>G
c.2121T>G (p.Ser707=)
c.2004T>G (p.Ser668=)
c.1545T>G (p.Ser515=)
c.1863T>G (p.Ser621=)
c.1527T>G (p.Ser509=)
n.75+5337A>C
gnomAD v4
6g.39357285A>GCA450098176KIF6c.2172T>C (p.Ser724=)
c.525T>C (p.Ser175=)
c.1847T>C
c.2121T>C (p.Ser707=)
c.2004T>C (p.Ser668=)
c.1545T>C (p.Ser515=)
c.1863T>C (p.Ser621=)
c.1527T>C (p.Ser509=)
n.75+5337A>G
6g.39357285A>TCA450098177KIF6c.2172T>A (p.Ser724=)
c.525T>A (p.Ser175=)
c.1847T>A
c.2121T>A (p.Ser707=)
c.2004T>A (p.Ser668=)
c.1545T>A (p.Ser515=)
c.1863T>A (p.Ser621=)
c.1527T>A (p.Ser509=)
n.75+5337A>T
6g.39357287_39357290delCA566664965KIF6c.2169_2172del (p.Ser724ThrfsTer22)
c.522_525del (p.Ser175ThrfsTer22)
c.522_525del (p.Ser175ThrfsTer5)
c.1844_1847del
c.2118_2121del (p.Ser707ThrfsTer22)
c.2001_2004del (p.Ser668ThrfsTer22)
c.2169_2172del (p.Ser724ThrfsTer5)
c.1542_1545del (p.Ser515ThrfsTer22)
c.1860_1863del (p.Ser621ThrfsTer22)
c.1524_1527del (p.Ser509ThrfsTer22)
n.75+5339_75+5342del
dbSNP gnomAD v2 gnomAD v4
6g.39357286G>ACA364350023KIF6c.2171C>T (p.Ser724Phe)
c.524C>T (p.Ser175Phe)
c.1846C>T
c.2120C>T (p.Ser707Phe)
c.2003C>T (p.Ser668Phe)
c.1544C>T (p.Ser515Phe)
c.1862C>T (p.Ser621Phe)
c.1526C>T (p.Ser509Phe)
n.75+5338G>A
dbSNP gnomAD v4
6g.39357286G>CCA364350025KIF6c.2171C>G (p.Ser724Cys)
c.524C>G (p.Ser175Cys)
c.1846C>G
c.2120C>G (p.Ser707Cys)
c.2003C>G (p.Ser668Cys)
c.1544C>G (p.Ser515Cys)
c.1862C>G (p.Ser621Cys)
c.1526C>G (p.Ser509Cys)
n.75+5338G>C
6g.39357286G=CA1622646764KIF6c.2171C= (p.Ser724=)
c.524C= (p.Ser175=)
c.1846C=
c.2120C= (p.Ser707=)
c.2003C= (p.Ser668=)
c.1544C= (p.Ser515=)
c.1862C= (p.Ser621=)
c.1526C= (p.Ser509=)
n.75+5338G=
6g.39357286G>TCA364350024KIF6c.2171C>A (p.Ser724Tyr)
c.524C>A (p.Ser175Tyr)
c.1846C>A
c.2120C>A (p.Ser707Tyr)
c.2003C>A (p.Ser668Tyr)
c.1544C>A (p.Ser515Tyr)
c.1862C>A (p.Ser621Tyr)
c.1526C>A (p.Ser509Tyr)
n.75+5338G>T
6g.39357287A=CA1622646767KIF6c.2170T= (p.Ser724=)
c.523T= (p.Ser175=)
c.1845T=
c.2119T= (p.Ser707=)
c.2002T= (p.Ser668=)
c.1543T= (p.Ser515=)
c.1861T= (p.Ser621=)
c.1525T= (p.Ser509=)
n.75+5339A=
6g.39357287A>CCA364350026KIF6c.2170T>G (p.Ser724Ala)
c.523T>G (p.Ser175Ala)
c.1845T>G
c.2119T>G (p.Ser707Ala)
c.2002T>G (p.Ser668Ala)
c.1543T>G (p.Ser515Ala)
c.1861T>G (p.Ser621Ala)
c.1525T>G (p.Ser509Ala)
n.75+5339A>C
6g.39357287A>GCA137717069KIF6c.2170T>C (p.Ser724Pro)
c.523T>C (p.Ser175Pro)
c.1845T>C
c.2119T>C (p.Ser707Pro)
c.2002T>C (p.Ser668Pro)
c.1543T>C (p.Ser515Pro)
c.1861T>C (p.Ser621Pro)
c.1525T>C (p.Ser509Pro)
n.75+5339A>G
dbSNP gnomAD v2 gnomAD v4
6g.39357287A>TCA364350027KIF6c.2170T>A (p.Ser724Thr)
c.523T>A (p.Ser175Thr)
c.1845T>A
c.2119T>A (p.Ser707Thr)
c.2002T>A (p.Ser668Thr)
c.1543T>A (p.Ser515Thr)
c.1861T>A (p.Ser621Thr)
c.1525T>A (p.Ser509Thr)
n.75+5339A>T
6g.39357288G>ACA450098178KIF6c.2169C>T (p.Leu723=)
c.522C>T (p.Leu174=)
c.1844C>T
c.2118C>T (p.Leu706=)
c.2001C>T (p.Leu667=)
c.1542C>T (p.Leu514=)
c.1860C>T (p.Leu620=)
c.1524C>T (p.Leu508=)
n.75+5340G>A
6g.39357288G>CCA450098180KIF6c.2169C>G (p.Leu723=)
c.522C>G (p.Leu174=)
c.1844C>G
c.2118C>G (p.Leu706=)
c.2001C>G (p.Leu667=)
c.1542C>G (p.Leu514=)
c.1860C>G (p.Leu620=)
c.1524C>G (p.Leu508=)
n.75+5340G>C
gnomAD v4
6g.39357288G>TCA450098179KIF6c.2169C>A (p.Leu723=)
c.522C>A (p.Leu174=)
c.1844C>A
c.2118C>A (p.Leu706=)
c.2001C>A (p.Leu667=)
c.1542C>A (p.Leu514=)
c.1860C>A (p.Leu620=)
c.1524C>A (p.Leu508=)
n.75+5340G>T
gnomAD v4
6g.39357289A>CCA364350028KIF6c.2168T>G (p.Leu723Arg)
c.521T>G (p.Leu174Arg)
c.1843T>G
c.2117T>G (p.Leu706Arg)
c.2000T>G (p.Leu667Arg)
c.1541T>G (p.Leu514Arg)
c.1859T>G (p.Leu620Arg)
c.1523T>G (p.Leu508Arg)
n.75+5341A>C
6g.39357289A>GCA364350029KIF6c.2168T>C (p.Leu723Pro)
c.521T>C (p.Leu174Pro)
c.1843T>C
c.2117T>C (p.Leu706Pro)
c.2000T>C (p.Leu667Pro)
c.1541T>C (p.Leu514Pro)
c.1859T>C (p.Leu620Pro)
c.1523T>C (p.Leu508Pro)
n.75+5341A>G
6g.39357289A>TCA364350030KIF6c.2168T>A (p.Leu723His)
c.521T>A (p.Leu174His)
c.1843T>A
c.2117T>A (p.Leu706His)
c.2000T>A (p.Leu667His)
c.1541T>A (p.Leu514His)
c.1859T>A (p.Leu620His)
c.1523T>A (p.Leu508His)
n.75+5341A>T
6g.39357290G>ACA364350031KIF6c.2167C>T (p.Leu723Phe)
c.520C>T (p.Leu174Phe)
c.1842C>T
c.2116C>T (p.Leu706Phe)
c.1999C>T (p.Leu667Phe)
c.1540C>T (p.Leu514Phe)
c.1858C>T (p.Leu620Phe)
c.1522C>T (p.Leu508Phe)
n.75+5342G>A
6g.39357290G>CCA364350032KIF6c.2167C>G (p.Leu723Val)
c.520C>G (p.Leu174Val)
c.1842C>G
c.2116C>G (p.Leu706Val)
c.1999C>G (p.Leu667Val)
c.1540C>G (p.Leu514Val)
c.1858C>G (p.Leu620Val)
c.1522C>G (p.Leu508Val)
n.75+5342G>C
6g.39357290G>TCA364350033KIF6c.2167C>A (p.Leu723Ile)
c.520C>A (p.Leu174Ile)
c.1842C>A
c.2116C>A (p.Leu706Ile)
c.1999C>A (p.Leu667Ile)
c.1540C>A (p.Leu514Ile)
c.1858C>A (p.Leu620Ile)
c.1522C>A (p.Leu508Ile)
n.75+5342G>T
6g.39357291G>ACA3793793KIF6c.2166C>T (p.Leu722=)
c.519C>T (p.Leu173=)
c.1841C>T
c.2115C>T (p.Leu705=)
c.1998C>T (p.Leu666=)
c.1539C>T (p.Leu513=)
c.1857C>T (p.Leu619=)
c.1521C>T (p.Leu507=)
n.75+5343G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357291G>CCA450098181KIF6c.2166C>G (p.Leu722=)
c.519C>G (p.Leu173=)
c.1841C>G
c.2115C>G (p.Leu705=)
c.1998C>G (p.Leu666=)
c.1539C>G (p.Leu513=)
c.1857C>G (p.Leu619=)
c.1521C>G (p.Leu507=)
n.75+5343G>C
6g.39357291G=CA1622646770KIF6c.2166C= (p.Leu722=)
c.519C= (p.Leu173=)
c.1841C=
c.2115C= (p.Leu705=)
c.1998C= (p.Leu666=)
c.1539C= (p.Leu513=)
c.1857C= (p.Leu619=)
c.1521C= (p.Leu507=)
n.75+5343G=
6g.39357291G>TCA450098182KIF6c.2166C>A (p.Leu722=)
c.519C>A (p.Leu173=)
c.1841C>A
c.2115C>A (p.Leu705=)
c.1998C>A (p.Leu666=)
c.1539C>A (p.Leu513=)
c.1857C>A (p.Leu619=)
c.1521C>A (p.Leu507=)
n.75+5343G>T
6g.39357292A>CCA364350034KIF6c.2165T>G (p.Leu722Arg)
c.518T>G (p.Leu173Arg)
c.1840T>G
c.2114T>G (p.Leu705Arg)
c.1997T>G (p.Leu666Arg)
c.1538T>G (p.Leu513Arg)
c.1856T>G (p.Leu619Arg)
c.1520T>G (p.Leu507Arg)
n.75+5344A>C
6g.39357292A>GCA364350035KIF6c.2165T>C (p.Leu722Pro)
c.518T>C (p.Leu173Pro)
c.1840T>C
c.2114T>C (p.Leu705Pro)
c.1997T>C (p.Leu666Pro)
c.1538T>C (p.Leu513Pro)
c.1856T>C (p.Leu619Pro)
c.1520T>C (p.Leu507Pro)
n.75+5344A>G
6g.39357292A>TCA364350036KIF6c.2165T>A (p.Leu722His)
c.518T>A (p.Leu173His)
c.1840T>A
c.2114T>A (p.Leu705His)
c.1997T>A (p.Leu666His)
c.1538T>A (p.Leu513His)
c.1856T>A (p.Leu619His)
c.1520T>A (p.Leu507His)
n.75+5344A>T
6g.39357293G>ACA364350039KIF6c.2164C>T (p.Leu722Phe)
c.517C>T (p.Leu173Phe)
c.1839C>T
c.2113C>T (p.Leu705Phe)
c.1996C>T (p.Leu666Phe)
c.1537C>T (p.Leu513Phe)
c.1855C>T (p.Leu619Phe)
c.1519C>T (p.Leu507Phe)
n.75+5345G>A
6g.39357293G>CCA364350038KIF6c.2164C>G (p.Leu722Val)
c.517C>G (p.Leu173Val)
c.1839C>G
c.2113C>G (p.Leu705Val)
c.1996C>G (p.Leu666Val)
c.1537C>G (p.Leu513Val)
c.1855C>G (p.Leu619Val)
c.1519C>G (p.Leu507Val)
n.75+5345G>C
6g.39357293G>TCA364350037KIF6c.2164C>A (p.Leu722Ile)
c.517C>A (p.Leu173Ile)
c.1839C>A
c.2113C>A (p.Leu705Ile)
c.1996C>A (p.Leu666Ile)
c.1537C>A (p.Leu513Ile)
c.1855C>A (p.Leu619Ile)
c.1519C>A (p.Leu507Ile)
n.75+5345G>T
6g.39357294T>ACA364350040KIF6c.2163A>T (p.Gln721His)
c.516A>T (p.Gln172His)
c.1838A>T
c.2112A>T (p.Gln704His)
c.1995A>T (p.Gln665His)
c.1536A>T (p.Gln512His)
c.1854A>T (p.Gln618His)
c.1518A>T (p.Gln506His)
n.75+5346T>A
6g.39357294T>CCA137717070KIF6c.2163A>G (p.Gln721=)
c.516A>G (p.Gln172=)
c.1838A>G
c.2112A>G (p.Gln704=)
c.1995A>G (p.Gln665=)
c.1536A>G (p.Gln512=)
c.1854A>G (p.Gln618=)
c.1518A>G (p.Gln506=)
n.75+5346T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.39357294T>GCA364350041KIF6c.2163A>C (p.Gln721His)
c.516A>C (p.Gln172His)
c.1838A>C
c.2112A>C (p.Gln704His)
c.1995A>C (p.Gln665His)
c.1536A>C (p.Gln512His)
c.1854A>C (p.Gln618His)
c.1518A>C (p.Gln506His)
n.75+5346T>G
6g.39357294T=CA1622646772KIF6c.2163A= (p.Gln721=)
c.516A= (p.Gln172=)
c.1838A=
c.2112A= (p.Gln704=)
c.1995A= (p.Gln665=)
c.1536A= (p.Gln512=)
c.1854A= (p.Gln618=)
c.1518A= (p.Gln506=)
n.75+5346T=
6g.39357295T>ACA364350042KIF6c.2162A>T (p.Gln721Leu)
c.515A>T (p.Gln172Leu)
c.1837A>T
c.2111A>T (p.Gln704Leu)
c.1994A>T (p.Gln665Leu)
c.1535A>T (p.Gln512Leu)
c.1853A>T (p.Gln618Leu)
c.1517A>T (p.Gln506Leu)
n.75+5347T>A
6g.39357295T>CCA364350043KIF6c.2162A>G (p.Gln721Arg)
c.515A>G (p.Gln172Arg)
c.1837A>G
c.2111A>G (p.Gln704Arg)
c.1994A>G (p.Gln665Arg)
c.1535A>G (p.Gln512Arg)
c.1853A>G (p.Gln618Arg)
c.1517A>G (p.Gln506Arg)
n.75+5347T>C
6g.39357295T>GCA364350044KIF6c.2162A>C (p.Gln721Pro)
c.515A>C (p.Gln172Pro)
c.1837A>C
c.2111A>C (p.Gln704Pro)
c.1994A>C (p.Gln665Pro)
c.1535A>C (p.Gln512Pro)
c.1853A>C (p.Gln618Pro)
c.1517A>C (p.Gln506Pro)
n.75+5347T>G
dbSNP gnomAD v3 gnomAD v4
6g.39357295T=CA1622646776KIF6c.2162A= (p.Gln721=)
c.515A= (p.Gln172=)
c.1837A=
c.2111A= (p.Gln704=)
c.1994A= (p.Gln665=)
c.1535A= (p.Gln512=)
c.1853A= (p.Gln618=)
c.1517A= (p.Gln506=)
n.75+5347T=
6g.39357296G>ACA3793795KIF6c.2161C>T (p.Gln721Ter)
c.514C>T (p.Gln172Ter)
c.1836C>T
c.2110C>T (p.Gln704Ter)
c.1993C>T (p.Gln665Ter)
c.1534C>T (p.Gln512Ter)
c.1852C>T (p.Gln618Ter)
c.1516C>T (p.Gln506Ter)
n.75+5348G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357296G>CCA3793794KIF6c.2161C>G (p.Gln721Glu)
c.514C>G (p.Gln172Glu)
c.1836C>G
c.2110C>G (p.Gln704Glu)
c.1993C>G (p.Gln665Glu)
c.1534C>G (p.Gln512Glu)
c.1852C>G (p.Gln618Glu)
c.1516C>G (p.Gln506Glu)
n.75+5348G>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357296G=CA1622646779KIF6c.2161C= (p.Gln721=)
c.514C= (p.Gln172=)
c.1836C=
c.2110C= (p.Gln704=)
c.1993C= (p.Gln665=)
c.1534C= (p.Gln512=)
c.1852C= (p.Gln618=)
c.1516C= (p.Gln506=)
n.75+5348G=
6g.39357296G>TCA364350045KIF6c.2161C>A (p.Gln721Lys)
c.514C>A (p.Gln172Lys)
c.1836C>A
c.2110C>A (p.Gln704Lys)
c.1993C>A (p.Gln665Lys)
c.1534C>A (p.Gln512Lys)
c.1852C>A (p.Gln618Lys)
c.1516C>A (p.Gln506Lys)
n.75+5348G>T
6g.39357297G>ACA450098185KIF6c.2160C>T (p.Ser720=)
c.513C>T (p.Ser171=)
c.1835C>T
c.2109C>T (p.Ser703=)
c.1992C>T (p.Ser664=)
c.1533C>T (p.Ser511=)
c.1851C>T (p.Ser617=)
c.1515C>T (p.Ser505=)
n.75+5349G>A
6g.39357297G>CCA450098183KIF6c.2160C>G (p.Ser720=)
c.513C>G (p.Ser171=)
c.1835C>G
c.2109C>G (p.Ser703=)
c.1992C>G (p.Ser664=)
c.1533C>G (p.Ser511=)
c.1851C>G (p.Ser617=)
c.1515C>G (p.Ser505=)
n.75+5349G>C
6g.39357297G>TCA450098184KIF6c.2160C>A (p.Ser720=)
c.513C>A (p.Ser171=)
c.1835C>A
c.2109C>A (p.Ser703=)
c.1992C>A (p.Ser664=)
c.1533C>A (p.Ser511=)
c.1851C>A (p.Ser617=)
c.1515C>A (p.Ser505=)
n.75+5349G>T
6g.39357298G>ACA364350047KIF6c.2159C>T (p.Ser720Phe)
c.512C>T (p.Ser171Phe)
c.1834C>T
c.2108C>T (p.Ser703Phe)
c.1991C>T (p.Ser664Phe)
c.1532C>T (p.Ser511Phe)
c.1850C>T (p.Ser617Phe)
c.1514C>T (p.Ser505Phe)
n.75+5350G>A
dbSNP gnomAD v2 gnomAD v4
6g.39357298G>CCA364350049KIF6c.2159C>G (p.Ser720Cys)
c.512C>G (p.Ser171Cys)
c.1834C>G
c.2108C>G (p.Ser703Cys)
c.1991C>G (p.Ser664Cys)
c.1532C>G (p.Ser511Cys)
c.1850C>G (p.Ser617Cys)
c.1514C>G (p.Ser505Cys)
n.75+5350G>C
6g.39357298G=CA1622646782KIF6c.2159C= (p.Ser720=)
c.512C= (p.Ser171=)
c.1834C=
c.2108C= (p.Ser703=)
c.1991C= (p.Ser664=)
c.1532C= (p.Ser511=)
c.1850C= (p.Ser617=)
c.1514C= (p.Ser505=)
n.75+5350G=
6g.39357298G>TCA364350051KIF6c.2159C>A (p.Ser720Tyr)
c.512C>A (p.Ser171Tyr)
c.1834C>A
c.2108C>A (p.Ser703Tyr)
c.1991C>A (p.Ser664Tyr)
c.1532C>A (p.Ser511Tyr)
c.1850C>A (p.Ser617Tyr)
c.1514C>A (p.Ser505Tyr)
n.75+5350G>T
6g.39357299A>CCA364350052KIF6c.2158T>G (p.Ser720Ala)
c.511T>G (p.Ser171Ala)
c.1833T>G
c.2107T>G (p.Ser703Ala)
c.1990T>G (p.Ser664Ala)
c.1531T>G (p.Ser511Ala)
c.1849T>G (p.Ser617Ala)
c.1513T>G (p.Ser505Ala)
n.75+5351A>C
6g.39357299A>GCA364350053KIF6c.2158T>C (p.Ser720Pro)
c.511T>C (p.Ser171Pro)
c.1833T>C
c.2107T>C (p.Ser703Pro)
c.1990T>C (p.Ser664Pro)
c.1531T>C (p.Ser511Pro)
c.1849T>C (p.Ser617Pro)
c.1513T>C (p.Ser505Pro)
n.75+5351A>G
6g.39357299A>TCA364350055KIF6c.2158T>A (p.Ser720Thr)
c.511T>A (p.Ser171Thr)
c.1833T>A
c.2107T>A (p.Ser703Thr)
c.1990T>A (p.Ser664Thr)
c.1531T>A (p.Ser511Thr)
c.1849T>A (p.Ser617Thr)
c.1513T>A (p.Ser505Thr)
n.75+5351A>T
6g.39357300C>ACA364350059KIF6c.2157G>T (p.Trp719Cys)
c.510G>T (p.Trp170Cys)
c.1832G>T
c.2106G>T (p.Trp702Cys)
c.1989G>T (p.Trp663Cys)
c.1530G>T (p.Trp510Cys)
c.1848G>T (p.Trp616Cys)
c.1512G>T (p.Trp504Cys)
n.75+5352C>A
gnomAD v4
6g.39357300C=CA1622646785KIF6c.2157G= (p.Trp719=)
c.510G= (p.Trp170=)
c.1832G=
c.2106G= (p.Trp702=)
c.1989G= (p.Trp663=)
c.1530G= (p.Trp510=)
c.1848G= (p.Trp616=)
c.1512G= (p.Trp504=)
n.75+5352C=
6g.39357300C>GCA364350058KIF6c.2157G>C (p.Trp719Cys)
c.510G>C (p.Trp170Cys)
c.1832G>C
c.2106G>C (p.Trp702Cys)
c.1989G>C (p.Trp663Cys)
c.1530G>C (p.Trp510Cys)
c.1848G>C (p.Trp616Cys)
c.1512G>C (p.Trp504Cys)
n.75+5352C>G
6g.39357300C>TCA3793796KIF6c.2157G>A (p.Trp719Ter)
c.510G>A (p.Trp170Ter)
c.1832G>A
c.2106G>A (p.Trp702Ter)
c.1989G>A (p.Trp663Ter)
c.1530G>A (p.Trp510Ter)
c.1848G>A (p.Trp616Ter)
c.1512G>A (p.Trp504Ter)
n.75+5352C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357301C>ACA364350060KIF6c.2156G>T (p.Trp719Leu)
c.509G>T (p.Trp170Leu)
c.1831G>T
c.2105G>T (p.Trp702Leu)
c.1988G>T (p.Trp663Leu)
c.1529G>T (p.Trp510Leu)
c.1847G>T (p.Trp616Leu)
c.1511G>T (p.Trp504Leu)
n.75+5353C>A
6g.39357301C=CA1622646790KIF6c.2156G= (p.Trp719=)
c.509G= (p.Trp170=)
c.1831G=
c.2105G= (p.Trp702=)
c.1988G= (p.Trp663=)
c.1529G= (p.Trp510=)
c.1847G= (p.Trp616=)
c.1511G= (p.Trp504=)
n.75+5353C=
6g.39357301C>GCA364350062KIF6c.2156G>C (p.Trp719Ser)
c.509G>C (p.Trp170Ser)
c.1831G>C
c.2105G>C (p.Trp702Ser)
c.1988G>C (p.Trp663Ser)
c.1529G>C (p.Trp510Ser)
c.1847G>C (p.Trp616Ser)
c.1511G>C (p.Trp504Ser)
n.75+5353C>G
gnomAD v4
6g.39357301C>TCA3793797KIF6c.2156G>A (p.Trp719Ter)
c.509G>A (p.Trp170Ter)
c.1831G>A
c.2105G>A (p.Trp702Ter)
c.1988G>A (p.Trp663Ter)
c.1529G>A (p.Trp510Ter)
c.1847G>A (p.Trp616Ter)
c.1511G>A (p.Trp504Ter)
n.75+5353C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357302A=CA1622646798KIF6c.2155T= (p.Trp719=)
c.508T= (p.Trp170=)
c.1830T=
c.2104T= (p.Trp702=)
c.1987T= (p.Trp663=)
c.1528T= (p.Trp510=)
c.1846T= (p.Trp616=)
c.1510T= (p.Trp504=)
n.75+5354A=
6g.39357302A>CCA364350065KIF6c.2155T>G (p.Trp719Gly)
c.508T>G (p.Trp170Gly)
c.1830T>G
c.2104T>G (p.Trp702Gly)
c.1987T>G (p.Trp663Gly)
c.1528T>G (p.Trp510Gly)
c.1846T>G (p.Trp616Gly)
c.1510T>G (p.Trp504Gly)
n.75+5354A>C
6g.39357302A>GCA3793798KIF6c.2155T>C (p.Trp719Arg)
c.508T>C (p.Trp170Arg)
c.1830T>C
c.2104T>C (p.Trp702Arg)
c.1987T>C (p.Trp663Arg)
c.1528T>C (p.Trp510Arg)
c.1846T>C (p.Trp616Arg)
c.1510T>C (p.Trp504Arg)
n.75+5354A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357302A>TCA364350067KIF6c.2155T>A (p.Trp719Arg)
c.508T>A (p.Trp170Arg)
c.1830T>A
c.2104T>A (p.Trp702Arg)
c.1987T>A (p.Trp663Arg)
c.1528T>A (p.Trp510Arg)
c.1846T>A (p.Trp616Arg)
c.1510T>A (p.Trp504Arg)
n.75+5354A>T
gnomAD v4
6g.39357303T>ACA364350069KIF6c.2154A>T (p.Glu718Asp)
c.507A>T (p.Glu169Asp)
c.1829A>T
c.2103A>T (p.Glu701Asp)
c.1986A>T (p.Glu662Asp)
c.1527A>T (p.Glu509Asp)
c.1845A>T (p.Glu615Asp)
c.1509A>T (p.Glu503Asp)
n.75+5355T>A
6g.39357303T>CCA450098186KIF6c.2154A>G (p.Glu718=)
c.507A>G (p.Glu169=)
c.1829A>G
c.2103A>G (p.Glu701=)
c.1986A>G (p.Glu662=)
c.1527A>G (p.Glu509=)
c.1845A>G (p.Glu615=)
c.1509A>G (p.Glu503=)
n.75+5355T>C
6g.39357303T>GCA364350068KIF6c.2154A>C (p.Glu718Asp)
c.507A>C (p.Glu169Asp)
c.1829A>C
c.2103A>C (p.Glu701Asp)
c.1986A>C (p.Glu662Asp)
c.1527A>C (p.Glu509Asp)
c.1845A>C (p.Glu615Asp)
c.1509A>C (p.Glu503Asp)
n.75+5355T>G
6g.39357304T>ACA364350070KIF6c.2153A>T (p.Glu718Val)
c.506A>T (p.Glu169Val)
c.1828A>T
c.2102A>T (p.Glu701Val)
c.1985A>T (p.Glu662Val)
c.1526A>T (p.Glu509Val)
c.1844A>T (p.Glu615Val)
c.1508A>T (p.Glu503Val)
n.75+5356T>A
6g.39357304T>CCA364350072KIF6c.2153A>G (p.Glu718Gly)
c.506A>G (p.Glu169Gly)
c.1828A>G
c.2102A>G (p.Glu701Gly)
c.1985A>G (p.Glu662Gly)
c.1526A>G (p.Glu509Gly)
c.1844A>G (p.Glu615Gly)
c.1508A>G (p.Glu503Gly)
n.75+5356T>C
6g.39357304T>GCA364350074KIF6c.2153A>C (p.Glu718Ala)
c.506A>C (p.Glu169Ala)
c.1828A>C
c.2102A>C (p.Glu701Ala)
c.1985A>C (p.Glu662Ala)
c.1526A>C (p.Glu509Ala)
c.1844A>C (p.Glu615Ala)
c.1508A>C (p.Glu503Ala)
n.75+5356T>G
6g.39357305C>ACA364350075KIF6c.2152G>T (p.Glu718Ter)
c.505G>T (p.Glu169Ter)
c.1827G>T
c.2101G>T (p.Glu701Ter)
c.1984G>T (p.Glu662Ter)
c.1525G>T (p.Glu509Ter)
c.1843G>T (p.Glu615Ter)
c.1507G>T (p.Glu503Ter)
n.75+5357C>A
6g.39357305C>GCA364350077KIF6c.2152G>C (p.Glu718Gln)
c.505G>C (p.Glu169Gln)
c.1827G>C
c.2101G>C (p.Glu701Gln)
c.1984G>C (p.Glu662Gln)
c.1525G>C (p.Glu509Gln)
c.1843G>C (p.Glu615Gln)
c.1507G>C (p.Glu503Gln)
n.75+5357C>G
6g.39357305C>TCA364350078KIF6c.2152G>A (p.Glu718Lys)
c.505G>A (p.Glu169Lys)
c.1827G>A
c.2101G>A (p.Glu701Lys)
c.1984G>A (p.Glu662Lys)
c.1525G>A (p.Glu509Lys)
c.1843G>A (p.Glu615Lys)
c.1507G>A (p.Glu503Lys)
n.75+5357C>T
COSMIC COSMIC COSMIC COSMIC
6g.39357306A=CA1622646805KIF6c.2151T= (p.His717=)
c.504T= (p.His168=)
c.1826T=
c.2100T= (p.His700=)
c.1983T= (p.His661=)
c.1524T= (p.His508=)
c.1842T= (p.His614=)
c.1506T= (p.His502=)
n.75+5358A=
6g.39357306A>CCA3793800KIF6c.2151T>G (p.His717Gln)
c.504T>G (p.His168Gln)
c.1826T>G
c.2100T>G (p.His700Gln)
c.1983T>G (p.His661Gln)
c.1524T>G (p.His508Gln)
c.1842T>G (p.His614Gln)
c.1506T>G (p.His502Gln)
n.75+5358A>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357306A>GCA3793799KIF6c.2151T>C (p.His717=)
c.504T>C (p.His168=)
c.1826T>C
c.2100T>C (p.His700=)
c.1983T>C (p.His661=)
c.1524T>C (p.His508=)
c.1842T>C (p.His614=)
c.1506T>C (p.His502=)
n.75+5358A>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357306A>TCA364350080KIF6c.2151T>A (p.His717Gln)
c.504T>A (p.His168Gln)
c.1826T>A
c.2100T>A (p.His700Gln)
c.1983T>A (p.His661Gln)
c.1524T>A (p.His508Gln)
c.1842T>A (p.His614Gln)
c.1506T>A (p.His502Gln)
n.75+5358A>T
6g.39357307T>ACA364350083KIF6c.2150A>T (p.His717Leu)
c.503A>T (p.His168Leu)
c.1825A>T
c.2099A>T (p.His700Leu)
c.1982A>T (p.His661Leu)
c.1523A>T (p.His508Leu)
c.1841A>T (p.His614Leu)
c.1505A>T (p.His502Leu)
n.75+5359T>A
gnomAD v4
6g.39357307T>CCA364350084KIF6c.2150A>G (p.His717Arg)
c.503A>G (p.His168Arg)
c.1825A>G
c.2099A>G (p.His700Arg)
c.1982A>G (p.His661Arg)
c.1523A>G (p.His508Arg)
c.1841A>G (p.His614Arg)
c.1505A>G (p.His502Arg)
n.75+5359T>C
gnomAD v4
6g.39357307T>GCA364350085KIF6c.2150A>C (p.His717Pro)
c.503A>C (p.His168Pro)
c.1825A>C
c.2099A>C (p.His700Pro)
c.1982A>C (p.His661Pro)
c.1523A>C (p.His508Pro)
c.1841A>C (p.His614Pro)
c.1505A>C (p.His502Pro)
n.75+5359T>G
6g.39357308G>ACA364350087KIF6c.2149C>T (p.His717Tyr)
c.502C>T (p.His168Tyr)
c.1824C>T
c.2098C>T (p.His700Tyr)
c.1981C>T (p.His661Tyr)
c.1522C>T (p.His508Tyr)
c.1840C>T (p.His614Tyr)
c.1504C>T (p.His502Tyr)
n.75+5360G>A
6g.39357308G>CCA364350089KIF6c.2149C>G (p.His717Asp)
c.502C>G (p.His168Asp)
c.1824C>G
c.2098C>G (p.His700Asp)
c.1981C>G (p.His661Asp)
c.1522C>G (p.His508Asp)
c.1840C>G (p.His614Asp)
c.1504C>G (p.His502Asp)
n.75+5360G>C
6g.39357308G>TCA364350091KIF6c.2149C>A (p.His717Asn)
c.502C>A (p.His168Asn)
c.1824C>A
c.2098C>A (p.His700Asn)
c.1981C>A (p.His661Asn)
c.1522C>A (p.His508Asn)
c.1840C>A (p.His614Asn)
c.1504C>A (p.His502Asn)
n.75+5360G>T
6g.39357309C>ACA3793801KIF6c.2148G>T (p.Gln716His)
c.501G>T (p.Gln167His)
c.1823G>T
c.2097G>T (p.Gln699His)
c.1980G>T (p.Gln660His)
c.1521G>T (p.Gln507His)
c.1839G>T (p.Gln613His)
c.1503G>T (p.Gln501His)
n.75+5361C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.39357309C=CA1622646808KIF6c.2148G= (p.Gln716=)
c.501G= (p.Gln167=)
c.1823G=
c.2097G= (p.Gln699=)
c.1980G= (p.Gln660=)
c.1521G= (p.Gln507=)
c.1839G= (p.Gln613=)
c.1503G= (p.Gln501=)
n.75+5361C=
6g.39357309C>GCA3793802KIF6c.2148G>C (p.Gln716His)
c.501G>C (p.Gln167His)
c.1823G>C
c.2097G>C (p.Gln699His)
c.1980G>C (p.Gln660His)
c.1521G>C (p.Gln507His)
c.1839G>C (p.Gln613His)
c.1503G>C (p.Gln501His)
n.75+5361C>G
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357309C>TCA450098187KIF6c.2148G>A (p.Gln716=)
c.501G>A (p.Gln167=)
c.1823G>A
c.2097G>A (p.Gln699=)
c.1980G>A (p.Gln660=)
c.1521G>A (p.Gln507=)
c.1839G>A (p.Gln613=)
c.1503G>A (p.Gln501=)
n.75+5361C>T
gnomAD v4
6g.39357310T>ACA364350093KIF6c.2147A>T (p.Gln716Leu)
c.500A>T (p.Gln167Leu)
c.1822A>T
c.2096A>T (p.Gln699Leu)
c.1979A>T (p.Gln660Leu)
c.1520A>T (p.Gln507Leu)
c.1838A>T (p.Gln613Leu)
c.1502A>T (p.Gln501Leu)
n.75+5362T>A
6g.39357310T>CCA364350095KIF6c.2147A>G (p.Gln716Arg)
c.500A>G (p.Gln167Arg)
c.1822A>G
c.2096A>G (p.Gln699Arg)
c.1979A>G (p.Gln660Arg)
c.1520A>G (p.Gln507Arg)
c.1838A>G (p.Gln613Arg)
c.1502A>G (p.Gln501Arg)
n.75+5362T>C
6g.39357310T>GCA364350096KIF6c.2147A>C (p.Gln716Pro)
c.500A>C (p.Gln167Pro)
c.1822A>C
c.2096A>C (p.Gln699Pro)
c.1979A>C (p.Gln660Pro)
c.1520A>C (p.Gln507Pro)
c.1838A>C (p.Gln613Pro)
c.1502A>C (p.Gln501Pro)
n.75+5362T>G
6g.39357311G>ACA364350098KIF6c.2146C>T (p.Gln716Ter)
c.499C>T (p.Gln167Ter)
c.1821C>T
c.2095C>T (p.Gln699Ter)
c.1978C>T (p.Gln660Ter)
c.1519C>T (p.Gln507Ter)
c.1837C>T (p.Gln613Ter)
c.1501C>T (p.Gln501Ter)
n.75+5363G>A
6g.39357311G>CCA364350101KIF6c.2146C>G (p.Gln716Glu)
c.499C>G (p.Gln167Glu)
c.1821C>G
c.2095C>G (p.Gln699Glu)
c.1978C>G (p.Gln660Glu)
c.1519C>G (p.Gln507Glu)
c.1837C>G (p.Gln613Glu)
c.1501C>G (p.Gln501Glu)
n.75+5363G>C
6g.39357311G>TCA364350100KIF6c.2146C>A (p.Gln716Lys)
c.499C>A (p.Gln167Lys)
c.1821C>A
c.2095C>A (p.Gln699Lys)
c.1978C>A (p.Gln660Lys)
c.1519C>A (p.Gln507Lys)
c.1837C>A (p.Gln613Lys)
c.1501C>A (p.Gln501Lys)
n.75+5363G>T
COSMIC COSMIC COSMIC COSMIC
6g.39357312G>ACA450098188KIF6c.2145C>T (p.Ser715=)
c.498C>T (p.Ser166=)
c.1820C>T
c.2094C>T (p.Ser698=)
c.1977C>T (p.Ser659=)
c.1518C>T (p.Ser506=)
c.1836C>T (p.Ser612=)
c.1500C>T (p.Ser500=)
n.75+5364G>A
6g.39357312G>CCA450098189KIF6c.2145C>G (p.Ser715=)
c.498C>G (p.Ser166=)
c.1820C>G
c.2094C>G (p.Ser698=)
c.1977C>G (p.Ser659=)
c.1518C>G (p.Ser506=)
c.1836C>G (p.Ser612=)
c.1500C>G (p.Ser500=)
n.75+5364G>C
6g.39357312G>TCA450098190KIF6c.2145C>A (p.Ser715=)
c.498C>A (p.Ser166=)
c.1820C>A
c.2094C>A (p.Ser698=)
c.1977C>A (p.Ser659=)
c.1518C>A (p.Ser506=)
c.1836C>A (p.Ser612=)
c.1500C>A (p.Ser500=)
n.75+5364G>T
6g.39357313G>ACA364350102KIF6c.2144C>T (p.Ser715Phe)
c.497C>T (p.Ser166Phe)
c.1819C>T
c.2093C>T (p.Ser698Phe)
c.1976C>T (p.Ser659Phe)
c.1517C>T (p.Ser506Phe)
c.1835C>T (p.Ser612Phe)
c.1499C>T (p.Ser500Phe)
n.75+5365G>A
6g.39357313G>CCA364350103KIF6c.2144C>G (p.Ser715Cys)
c.497C>G (p.Ser166Cys)
c.1819C>G
c.2093C>G (p.Ser698Cys)
c.1976C>G (p.Ser659Cys)
c.1517C>G (p.Ser506Cys)
c.1835C>G (p.Ser612Cys)
c.1499C>G (p.Ser500Cys)
n.75+5365G>C
6g.39357313G>TCA364350104KIF6c.2144C>A (p.Ser715Tyr)
c.497C>A (p.Ser166Tyr)
c.1819C>A
c.2093C>A (p.Ser698Tyr)
c.1976C>A (p.Ser659Tyr)
c.1517C>A (p.Ser506Tyr)
c.1835C>A (p.Ser612Tyr)
c.1499C>A (p.Ser500Tyr)
n.75+5365G>T
6g.39357314A>CCA364350106KIF6c.2143T>G (p.Ser715Ala)
c.496T>G (p.Ser166Ala)
c.1818T>G
c.2092T>G (p.Ser698Ala)
c.1975T>G (p.Ser659Ala)
c.1516T>G (p.Ser506Ala)
c.1834T>G (p.Ser612Ala)
c.1498T>G (p.Ser500Ala)
n.75+5366A>C
6g.39357314A>GCA364350107KIF6c.2143T>C (p.Ser715Pro)
c.496T>C (p.Ser166Pro)
c.1818T>C
c.2092T>C (p.Ser698Pro)
c.1975T>C (p.Ser659Pro)
c.1516T>C (p.Ser506Pro)
c.1834T>C (p.Ser612Pro)
c.1498T>C (p.Ser500Pro)
n.75+5366A>G
gnomAD v4
6g.39357314A>TCA364350109KIF6c.2143T>A (p.Ser715Thr)
c.496T>A (p.Ser166Thr)
c.1818T>A
c.2092T>A (p.Ser698Thr)
c.1975T>A (p.Ser659Thr)
c.1516T>A (p.Ser506Thr)
c.1834T>A (p.Ser612Thr)
c.1498T>A (p.Ser500Thr)
n.75+5366A>T
6g.39357315G>ACA137717071KIF6c.2142C>T (p.Asp714=)
c.495C>T (p.Asp165=)
c.1817C>T
c.2091C>T (p.Asp697=)
c.1974C>T (p.Asp658=)
c.1515C>T (p.Asp505=)
c.1833C>T (p.Asp611=)
c.1497C>T (p.Asp499=)
n.75+5367G>A
dbSNP
6g.39357315G>CCA364350113KIF6c.2142C>G (p.Asp714Glu)
c.495C>G (p.Asp165Glu)
c.1817C>G
c.2091C>G (p.Asp697Glu)
c.1974C>G (p.Asp658Glu)
c.1515C>G (p.Asp505Glu)
c.1833C>G (p.Asp611Glu)
c.1497C>G (p.Asp499Glu)
n.75+5367G>C
6g.39357315G=CA1622646811KIF6c.2142C= (p.Asp714=)
c.495C= (p.Asp165=)
c.1817C=
c.2091C= (p.Asp697=)
c.1974C= (p.Asp658=)
c.1515C= (p.Asp505=)
c.1833C= (p.Asp611=)
c.1497C= (p.Asp499=)
n.75+5367G=
6g.39357315G>TCA364350111KIF6c.2142C>A (p.Asp714Glu)
c.495C>A (p.Asp165Glu)
c.1817C>A
c.2091C>A (p.Asp697Glu)
c.1974C>A (p.Asp658Glu)
c.1515C>A (p.Asp505Glu)
c.1833C>A (p.Asp611Glu)
c.1497C>A (p.Asp499Glu)
n.75+5367G>T
6g.39357316T>ACA364350115KIF6c.2141A>T (p.Asp714Val)
c.494A>T (p.Asp165Val)
c.1816A>T
c.2090A>T (p.Asp697Val)
c.1973A>T (p.Asp658Val)
c.1514A>T (p.Asp505Val)
c.1832A>T (p.Asp611Val)
c.1496A>T (p.Asp499Val)
n.75+5368T>A
COSMIC COSMIC
6g.39357316T>CCA364350117KIF6c.2141A>G (p.Asp714Gly)
c.494A>G (p.Asp165Gly)
c.1816A>G
c.2090A>G (p.Asp697Gly)
c.1973A>G (p.Asp658Gly)
c.1514A>G (p.Asp505Gly)
c.1832A>G (p.Asp611Gly)
c.1496A>G (p.Asp499Gly)
n.75+5368T>C
6g.39357316T>GCA364350118KIF6c.2141A>C (p.Asp714Ala)
c.494A>C (p.Asp165Ala)
c.1816A>C
c.2090A>C (p.Asp697Ala)
c.1973A>C (p.Asp658Ala)
c.1514A>C (p.Asp505Ala)
c.1832A>C (p.Asp611Ala)
c.1496A>C (p.Asp499Ala)
n.75+5368T>G
gnomAD v4
6g.39357317C>ACA364350119KIF6c.2140G>T (p.Asp714Tyr)
c.493G>T (p.Asp165Tyr)
c.1815G>T
c.2089G>T (p.Asp697Tyr)
c.1972G>T (p.Asp658Tyr)
c.1513G>T (p.Asp505Tyr)
c.1831G>T (p.Asp611Tyr)
c.1495G>T (p.Asp499Tyr)
n.75+5369C>A
6g.39357317C>GCA364350120KIF6c.2140G>C (p.Asp714His)
c.493G>C (p.Asp165His)
c.1815G>C
c.2089G>C (p.Asp697His)
c.1972G>C (p.Asp658His)
c.1513G>C (p.Asp505His)
c.1831G>C (p.Asp611His)
c.1495G>C (p.Asp499His)
n.75+5369C>G
6g.39357317C>TCA364350121KIF6c.2140G>A (p.Asp714Asn)
c.493G>A (p.Asp165Asn)
c.1815G>A
c.2089G>A (p.Asp697Asn)
c.1972G>A (p.Asp658Asn)
c.1513G>A (p.Asp505Asn)
c.1831G>A (p.Asp611Asn)
c.1495G>A (p.Asp499Asn)
n.75+5369C>T
6g.39357318A>CCA450098193KIF6c.2139T>G (p.Ser713=)
c.492T>G (p.Ser164=)
c.1814T>G
c.2088T>G (p.Ser696=)
c.1971T>G (p.Ser657=)
c.1512T>G (p.Ser504=)
c.1830T>G (p.Ser610=)
c.1494T>G (p.Ser498=)
n.75+5370A>C
6g.39357318A>GCA450098192KIF6c.2139T>C (p.Ser713=)
c.492T>C (p.Ser164=)
c.1814T>C
c.2088T>C (p.Ser696=)
c.1971T>C (p.Ser657=)
c.1512T>C (p.Ser504=)
c.1830T>C (p.Ser610=)
c.1494T>C (p.Ser498=)
n.75+5370A>G
6g.39357318A>TCA450098191KIF6c.2139T>A (p.Ser713=)
c.492T>A (p.Ser164=)
c.1814T>A
c.2088T>A (p.Ser696=)
c.1971T>A (p.Ser657=)
c.1512T>A (p.Ser504=)
c.1830T>A (p.Ser610=)
c.1494T>A (p.Ser498=)
n.75+5370A>T
6g.39357319G>ACA364350122KIF6c.2138C>T (p.Ser713Phe)
c.491C>T (p.Ser164Phe)
c.1813C>T
c.2087C>T (p.Ser696Phe)
c.1970C>T (p.Ser657Phe)
c.1511C>T (p.Ser504Phe)
c.1829C>T (p.Ser610Phe)
c.1493C>T (p.Ser498Phe)
n.75+5371G>A
6g.39357319G>CCA3793803KIF6c.2138C>G (p.Ser713Cys)
c.491C>G (p.Ser164Cys)
c.1813C>G
c.2087C>G (p.Ser696Cys)
c.1970C>G (p.Ser657Cys)
c.1511C>G (p.Ser504Cys)
c.1829C>G (p.Ser610Cys)
c.1493C>G (p.Ser498Cys)
n.75+5371G>C
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357319G=CA1622646813KIF6c.2138C= (p.Ser713=)
c.491C= (p.Ser164=)
c.1813C=
c.2087C= (p.Ser696=)
c.1970C= (p.Ser657=)
c.1511C= (p.Ser504=)
c.1829C= (p.Ser610=)
c.1493C= (p.Ser498=)
n.75+5371G=
6g.39357319G>TCA364350123KIF6c.2138C>A (p.Ser713Tyr)
c.491C>A (p.Ser164Tyr)
c.1813C>A
c.2087C>A (p.Ser696Tyr)
c.1970C>A (p.Ser657Tyr)
c.1511C>A (p.Ser504Tyr)
c.1829C>A (p.Ser610Tyr)
c.1493C>A (p.Ser498Tyr)
n.75+5371G>T
6g.39357320A>CCA364350125KIF6c.2137T>G (p.Ser713Ala)
c.490T>G (p.Ser164Ala)
c.1812T>G
c.2086T>G (p.Ser696Ala)
c.1969T>G (p.Ser657Ala)
c.1510T>G (p.Ser504Ala)
c.1828T>G (p.Ser610Ala)
c.1492T>G (p.Ser498Ala)
n.75+5372A>C
6g.39357320A>GCA364350126KIF6c.2137T>C (p.Ser713Pro)
c.490T>C (p.Ser164Pro)
c.1812T>C
c.2086T>C (p.Ser696Pro)
c.1969T>C (p.Ser657Pro)
c.1510T>C (p.Ser504Pro)
c.1828T>C (p.Ser610Pro)
c.1492T>C (p.Ser498Pro)
n.75+5372A>G
6g.39357320A>TCA364350128KIF6c.2137T>A (p.Ser713Thr)
c.490T>A (p.Ser164Thr)
c.1812T>A
c.2086T>A (p.Ser696Thr)
c.1969T>A (p.Ser657Thr)
c.1510T>A (p.Ser504Thr)
c.1828T>A (p.Ser610Thr)
c.1492T>A (p.Ser498Thr)
n.75+5372A>T
6g.39357321T>ACA450098194KIF6c.2136A>T (p.Thr712=)
c.489A>T (p.Thr163=)
c.1811A>T
c.2085A>T (p.Thr695=)
c.1968A>T (p.Thr656=)
c.1509A>T (p.Thr503=)
c.1827A>T (p.Thr609=)
c.1491A>T (p.Thr497=)
n.75+5373T>A
6g.39357321T>CCA450098195KIF6c.2136A>G (p.Thr712=)
c.489A>G (p.Thr163=)
c.1811A>G
c.2085A>G (p.Thr695=)
c.1968A>G (p.Thr656=)
c.1509A>G (p.Thr503=)
c.1827A>G (p.Thr609=)
c.1491A>G (p.Thr497=)
n.75+5373T>C
6g.39357321T>GCA450098196KIF6c.2136A>C (p.Thr712=)
c.489A>C (p.Thr163=)
c.1811A>C
c.2085A>C (p.Thr695=)
c.1968A>C (p.Thr656=)
c.1509A>C (p.Thr503=)
c.1827A>C (p.Thr609=)
c.1491A>C (p.Thr497=)
n.75+5373T>G
6g.39357322G>ACA3793804KIF6c.2135C>T (p.Thr712Ile)
c.488C>T (p.Thr163Ile)
c.1810C>T
c.2084C>T (p.Thr695Ile)
c.1967C>T (p.Thr656Ile)
c.1508C>T (p.Thr503Ile)
c.1826C>T (p.Thr609Ile)
c.1490C>T (p.Thr497Ile)
n.75+5374G>A
dbSNP ExAC gnomAD v2 gnomAD v4
6g.39357322G>CCA364350130KIF6c.2135C>G (p.Thr712Arg)
c.488C>G (p.Thr163Arg)
c.1810C>G
c.2084C>G (p.Thr695Arg)
c.1967C>G (p.Thr656Arg)
c.1508C>G (p.Thr503Arg)
c.1826C>G (p.Thr609Arg)
c.1490C>G (p.Thr497Arg)
n.75+5374G>C
6g.39357322G=CA1622646814KIF6c.2135C= (p.Thr712=)
c.488C= (p.Thr163=)
c.1810C=
c.2084C= (p.Thr695=)
c.1967C= (p.Thr656=)
c.1508C= (p.Thr503=)
c.1826C= (p.Thr609=)
c.1490C= (p.Thr497=)
n.75+5374G=
6g.39357322G>TCA364350131KIF6c.2135C>A (p.Thr712Lys)
c.488C>A (p.Thr163Lys)
c.1810C>A
c.2084C>A (p.Thr695Lys)
c.1967C>A (p.Thr656Lys)
c.1508C>A (p.Thr503Lys)
c.1826C>A (p.Thr609Lys)
c.1490C>A (p.Thr497Lys)
n.75+5374G>T
6g.39357323T>ACA364350133KIF6c.2134A>T (p.Thr712Ser)
c.487A>T (p.Thr163Ser)
c.1809A>T
c.2083A>T (p.Thr695Ser)
c.1966A>T (p.Thr656Ser)
c.1507A>T (p.Thr503Ser)
c.1825A>T (p.Thr609Ser)
c.1489A>T (p.Thr497Ser)
n.75+5375T>A
6g.39357323T>CCA364350135KIF6c.2134A>G (p.Thr712Ala)
c.487A>G (p.Thr163Ala)
c.1809A>G
c.2083A>G (p.Thr695Ala)
c.1966A>G (p.Thr656Ala)
c.1507A>G (p.Thr503Ala)
c.1825A>G (p.Thr609Ala)
c.1489A>G (p.Thr497Ala)
n.75+5375T>C
6g.39357323T>GCA364350136KIF6c.2134A>C (p.Thr712Pro)
c.487A>C (p.Thr163Pro)
c.1809A>C
c.2083A>C (p.Thr695Pro)
c.1966A>C (p.Thr656Pro)
c.1507A>C (p.Thr503Pro)
c.1825A>C (p.Thr609Pro)
c.1489A>C (p.Thr497Pro)
n.75+5375T>G
6g.39357324C>ACA364350137KIF6c.2133G>T (p.Gln711His)
c.486G>T (p.Gln162His)
c.1808G>T
c.2082G>T (p.Gln694His)
c.1965G>T (p.Gln655His)
c.1506G>T (p.Gln502His)
c.1824G>T (p.Gln608His)
c.1488G>T (p.Gln496His)
n.75+5376C>A
6g.39357324C>GCA364350139KIF6c.2133G>C (p.Gln711His)
c.486G>C (p.Gln162His)
c.1808G>C
c.2082G>C (p.Gln694His)
c.1965G>C (p.Gln655His)
c.1506G>C (p.Gln502His)
c.1824G>C (p.Gln608His)
c.1488G>C (p.Gln496His)
n.75+5376C>G
gnomAD v4
6g.39357324C>TCA450098197KIF6c.2133G>A (p.Gln711=)
c.486G>A (p.Gln162=)
c.1808G>A
c.2082G>A (p.Gln694=)
c.1965G>A (p.Gln655=)
c.1506G>A (p.Gln502=)
c.1824G>A (p.Gln608=)
c.1488G>A (p.Gln496=)
n.75+5376C>T
gnomAD v4
6g.39357325T>ACA364350140KIF6c.2132A>T (p.Gln711Leu)
c.485A>T (p.Gln162Leu)
c.1807A>T
c.2081A>T (p.Gln694Leu)
c.1964A>T (p.Gln655Leu)
c.1505A>T (p.Gln502Leu)
c.1823A>T (p.Gln608Leu)
c.1487A>T (p.Gln496Leu)
n.75+5377T>A
6g.39357325T>CCA364350144KIF6c.2132A>G (p.Gln711Arg)
c.485A>G (p.Gln162Arg)
c.1807A>G
c.2081A>G (p.Gln694Arg)
c.1964A>G (p.Gln655Arg)
c.1505A>G (p.Gln502Arg)
c.1823A>G (p.Gln608Arg)
c.1487A>G (p.Gln496Arg)
n.75+5377T>C
6g.39357325T>GCA364350142KIF6c.2132A>C (p.Gln711Pro)
c.485A>C (p.Gln162Pro)
c.1807A>C
c.2081A>C (p.Gln694Pro)
c.1964A>C (p.Gln655Pro)
c.1505A>C (p.Gln502Pro)
c.1823A>C (p.Gln608Pro)
c.1487A>C (p.Gln496Pro)
n.75+5377T>G

Number of alleles fetched