Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.113063950C>ACA2674882383MCCc.1643+34G>T (n.1643+34G>T)
c.2213+34G>T (n.2213+34G>T)
c.1454+34G>T (n.1454+34G>T)
c.57+34G>T
c.1613+34G>T (n.1613+34G>T)
 gnomAD v4
5g.113063950C>GCA2578380790MCCc.1643+34G>C (n.1643+34G>C)
c.2213+34G>C (n.2213+34G>C)
c.1454+34G>C (n.1454+34G>C)
c.57+34G>C
c.1613+34G>C (n.1613+34G>C)
5g.113063950C>TCA2674882384MCCc.1643+34G>A (n.1643+34G>A)
c.2213+34G>A (n.2213+34G>A)
c.1454+34G>A (n.1454+34G>A)
c.57+34G>A
c.1613+34G>A (n.1613+34G>A)
 gnomAD v4
5g.113063952C>ACA2674882385MCCc.1643+32G>T (n.1643+32G>T)
c.2213+32G>T (n.2213+32G>T)
c.1454+32G>T (n.1454+32G>T)
c.57+32G>T
c.1613+32G>T (n.1613+32G>T)
 gnomAD v4
5g.113063952C=CA1573632455MCCc.1643+32G= (n.1643+32G=)
c.2213+32G= (n.2213+32G=)
c.1454+32G= (n.1454+32G=)
c.57+32G=
c.1613+32G= (n.1613+32G=)
5g.113063952C>GCA2674882386MCCc.1643+32G>C (n.1643+32G>C)
c.2213+32G>C (n.2213+32G>C)
c.1454+32G>C (n.1454+32G>C)
c.57+32G>C
c.1613+32G>C (n.1613+32G>C)
 gnomAD v4
5g.113063952C>TCA3369979MCCc.1643+32G>A (n.1643+32G>A)
c.2213+32G>A (n.2213+32G>A)
c.1454+32G>A (n.1454+32G>A)
c.57+32G>A
c.1613+32G>A (n.1613+32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063953G>ACA3369980MCCc.1643+31C>T (n.1643+31C>T)
c.2213+31C>T (n.2213+31C>T)
c.1454+31C>T (n.1454+31C>T)
c.57+31C>T
c.1613+31C>T (n.1613+31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063953G>CCA2581531389MCCc.1643+31C>G (n.1643+31C>G)
c.2213+31C>G (n.2213+31C>G)
c.1454+31C>G (n.1454+31C>G)
c.57+31C>G
c.1613+31C>G (n.1613+31C>G)
5g.113063953G=CA1573632456MCCc.1643+31C= (n.1643+31C=)
c.2213+31C= (n.2213+31C=)
c.1454+31C= (n.1454+31C=)
c.57+31C=
c.1613+31C= (n.1613+31C=)
5g.113063953G>TCA2581531388MCCc.1643+31C>A (n.1643+31C>A)
c.2213+31C>A (n.2213+31C>A)
c.1454+31C>A (n.1454+31C>A)
c.57+31C>A
c.1613+31C>A (n.1613+31C>A)
 gnomAD v4
5g.113063954C>ACA2740672877MCCc.1643+30G>T (n.1643+30G>T)
c.2213+30G>T (n.2213+30G>T)
c.1454+30G>T (n.1454+30G>T)
c.57+30G>T
c.1613+30G>T (n.1613+30G>T)
5g.113063955C=CA1573632457MCCc.1643+29G= (n.1643+29G=)
c.2213+29G= (n.2213+29G=)
c.1454+29G= (n.1454+29G=)
c.57+29G=
c.1613+29G= (n.1613+29G=)
5g.113063955C>GCA3369981MCCc.1643+29G>C (n.1643+29G>C)
c.2213+29G>C (n.2213+29G>C)
c.1454+29G>C (n.1454+29G>C)
c.57+29G>C
c.1613+29G>C (n.1613+29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113063955C>TCA2674882387MCCc.1643+29G>A (n.1643+29G>A)
c.2213+29G>A (n.2213+29G>A)
c.1454+29G>A (n.1454+29G>A)
c.57+29G>A
c.1613+29G>A (n.1613+29G>A)
 gnomAD v4
5g.113063956C>ACA2674882388MCCc.1643+28G>T (n.1643+28G>T)
c.2213+28G>T (n.2213+28G>T)
c.1454+28G>T (n.1454+28G>T)
c.57+28G>T
c.1613+28G>T (n.1613+28G>T)
 gnomAD v4
5g.113063956C>TCA2578380791MCCc.1643+28G>A (n.1643+28G>A)
c.2213+28G>A (n.2213+28G>A)
c.1454+28G>A (n.1454+28G>A)
c.57+28G>A
c.1613+28G>A (n.1613+28G>A)
5g.113063958C>ACA2674882389MCCc.1643+26G>T (n.1643+26G>T)
c.2213+26G>T (n.2213+26G>T)
c.1454+26G>T (n.1454+26G>T)
c.57+26G>T
c.1613+26G>T (n.1613+26G>T)
 gnomAD v4
5g.113063958C>TCA2674882390MCCc.1643+26G>A (n.1643+26G>A)
c.2213+26G>A (n.2213+26G>A)
c.1454+26G>A (n.1454+26G>A)
c.57+26G>A
c.1613+26G>A (n.1613+26G>A)
 gnomAD v4
5g.113063961delCA2578380792MCCc.1643+26del (n.1643+26del)
c.2213+26del (n.2213+26del)
c.1454+26del (n.1454+26del)
c.57+26del
c.1613+26del (n.1613+26del)
5g.113063959C=CA1573632458MCCc.1643+25G= (n.1643+25G=)
c.2213+25G= (n.2213+25G=)
c.1454+25G= (n.1454+25G=)
c.57+25G=
c.1613+25G= (n.1613+25G=)
5g.113063959C>GCA2578380793MCCc.1643+25G>C (n.1643+25G>C)
c.2213+25G>C (n.2213+25G>C)
c.1454+25G>C (n.1454+25G>C)
c.57+25G>C
c.1613+25G>C (n.1613+25G>C)
5g.113063959C>TCA1080235638MCCc.1643+25G>A (n.1643+25G>A)
c.2213+25G>A (n.2213+25G>A)
c.1454+25G>A (n.1454+25G>A)
c.57+25G>A
c.1613+25G>A (n.1613+25G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.113063960C>ACA562218008MCCc.1643+24G>T (n.1643+24G>T)
c.2213+24G>T (n.2213+24G>T)
c.1454+24G>T (n.1454+24G>T)
c.57+24G>T
c.1613+24G>T (n.1613+24G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.113063960C=CA1573632459MCCc.1643+24G= (n.1643+24G=)
c.2213+24G= (n.2213+24G=)
c.1454+24G= (n.1454+24G=)
c.57+24G=
c.1613+24G= (n.1613+24G=)
5g.113063960C>GCA2674882391MCCc.1643+24G>C (n.1643+24G>C)
c.2213+24G>C (n.2213+24G>C)
c.1454+24G>C (n.1454+24G>C)
c.57+24G>C
c.1613+24G>C (n.1613+24G>C)
 gnomAD v4
5g.113063963G>ACA2674882392MCCc.1643+21C>T (n.1643+21C>T)
c.2213+21C>T (n.2213+21C>T)
c.1454+21C>T (n.1454+21C>T)
c.57+21C>T
c.1613+21C>T (n.1613+21C>T)
 gnomAD v4
5g.113063963G>CCA3369982MCCc.1643+21C>G (n.1643+21C>G)
c.2213+21C>G (n.2213+21C>G)
c.1454+21C>G (n.1454+21C>G)
c.57+21C>G
c.1613+21C>G (n.1613+21C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113063963G=CA1573632460MCCc.1643+21C= (n.1643+21C=)
c.2213+21C= (n.2213+21C=)
c.1454+21C= (n.1454+21C=)
c.57+21C=
c.1613+21C= (n.1613+21C=)
5g.113063963G>TCA2674882393MCCc.1643+21C>A (n.1643+21C>A)
c.2213+21C>A (n.2213+21C>A)
c.1454+21C>A (n.1454+21C>A)
c.57+21C>A
c.1613+21C>A (n.1613+21C>A)
 gnomAD v4
5g.113063964A=CA1573632461MCCc.1643+20T= (n.1643+20T=)
c.2213+20T= (n.2213+20T=)
c.1454+20T= (n.1454+20T=)
c.57+20T=
c.1613+20T= (n.1613+20T=)
5g.113063964A>CCA1080235642MCCc.1643+20T>G (n.1643+20T>G)
c.2213+20T>G (n.2213+20T>G)
c.1454+20T>G (n.1454+20T>G)
c.57+20T>G
c.1613+20T>G (n.1613+20T>G)
 dbSNP gnomAD v3 gnomAD v4
5g.113063964A>GCA3369983MCCc.1643+20T>C (n.1643+20T>C)
c.2213+20T>C (n.2213+20T>C)
c.1454+20T>C (n.1454+20T>C)
c.57+20T>C
c.1613+20T>C (n.1613+20T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113063965G>CCA2674882394MCCc.1643+19C>G (n.1643+19C>G)
c.2213+19C>G (n.2213+19C>G)
c.1454+19C>G (n.1454+19C>G)
c.57+19C>G
c.1613+19C>G (n.1613+19C>G)
 gnomAD v4
5g.113063968G>ACA802094947MCCc.1643+16C>T (n.1643+16C>T)
c.2213+16C>T (n.2213+16C>T)
c.1454+16C>T (n.1454+16C>T)
c.57+16C>T
c.1613+16C>T (n.1613+16C>T)
 dbSNP
5g.113063968G=CA1573632462MCCc.1643+16C= (n.1643+16C=)
c.2213+16C= (n.2213+16C=)
c.1454+16C= (n.1454+16C=)
c.57+16C=
c.1613+16C= (n.1613+16C=)
5g.113063969A>GCA2674882395MCCc.1643+15T>C (n.1643+15T>C)
c.2213+15T>C (n.2213+15T>C)
c.1454+15T>C (n.1454+15T>C)
c.57+15T>C
c.1613+15T>C (n.1613+15T>C)
 gnomAD v4
5g.113063970A>TCA2578380794MCCc.1643+14T>A (n.1643+14T>A)
c.2213+14T>A (n.2213+14T>A)
c.1454+14T>A (n.1454+14T>A)
c.57+14T>A
c.1613+14T>A (n.1613+14T>A)
 gnomAD v4
5g.113063971G>ACA2674882396MCCc.1643+13C>T (n.1643+13C>T)
c.2213+13C>T (n.2213+13C>T)
c.1454+13C>T (n.1454+13C>T)
c.57+13C>T
c.1613+13C>T (n.1613+13C>T)
 gnomAD v4
5g.113063971G=CA1573632463MCCc.1643+13C= (n.1643+13C=)
c.2213+13C= (n.2213+13C=)
c.1454+13C= (n.1454+13C=)
c.57+13C=
c.1613+13C= (n.1613+13C=)
5g.113063971G>TCA1573632464MCCc.1643+13C>A (n.1643+13C>A)
c.2213+13C>A (n.2213+13C>A)
c.1454+13C>A (n.1454+13C>A)
c.57+13C>A
c.1613+13C>A (n.1613+13C>A)
 dbSNP gnomAD v4
5g.113063972G>ACA3369984MCCc.1643+12C>T (n.1643+12C>T)
c.2213+12C>T (n.2213+12C>T)
c.1454+12C>T (n.1454+12C>T)
c.57+12C>T
c.1613+12C>T (n.1613+12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063972G=CA1573632465MCCc.1643+12C= (n.1643+12C=)
c.2213+12C= (n.2213+12C=)
c.1454+12C= (n.1454+12C=)
c.57+12C=
c.1613+12C= (n.1613+12C=)
5g.113063973C=CA1573632466MCCc.1643+11G= (n.1643+11G=)
c.2213+11G= (n.2213+11G=)
c.1454+11G= (n.1454+11G=)
c.57+11G=
c.1613+11G= (n.1613+11G=)
5g.113063973C>GCA3369985MCCc.1643+11G>C (n.1643+11G>C)
c.2213+11G>C (n.2213+11G>C)
c.1454+11G>C (n.1454+11G>C)
c.57+11G>C
c.1613+11G>C (n.1613+11G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063973C>TCA562218009MCCc.1643+11G>A (n.1643+11G>A)
c.2213+11G>A (n.2213+11G>A)
c.1454+11G>A (n.1454+11G>A)
c.57+11G>A
c.1613+11G>A (n.1613+11G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.113063974T>CCA1080235646MCCc.1643+10A>G (n.1643+10A>G)
c.2213+10A>G (n.2213+10A>G)
c.1454+10A>G (n.1454+10A>G)
c.57+10A>G
c.1613+10A>G (n.1613+10A>G)
 dbSNP gnomAD v3 gnomAD v4
5g.113063974T>GCA2578380795MCCc.1643+10A>C (n.1643+10A>C)
c.2213+10A>C (n.2213+10A>C)
c.1454+10A>C (n.1454+10A>C)
c.57+10A>C
c.1613+10A>C (n.1613+10A>C)
 gnomAD v4
5g.113063974T=CA1573632467MCCc.1643+10A= (n.1643+10A=)
c.2213+10A= (n.2213+10A=)
c.1454+10A= (n.1454+10A=)
c.57+10A=
c.1613+10A= (n.1613+10A=)
5g.113063975G>ACA124994487MCCc.1643+9C>T (n.1643+9C>T)
c.2213+9C>T (n.2213+9C>T)
c.1454+9C>T (n.1454+9C>T)
c.57+9C>T
c.1613+9C>T (n.1613+9C>T)
 dbSNP gnomAD v4
5g.113063975G=CA1573632468MCCc.1643+9C= (n.1643+9C=)
c.2213+9C= (n.2213+9C=)
c.1454+9C= (n.1454+9C=)
c.57+9C=
c.1613+9C= (n.1613+9C=)
5g.113063977G>ACA3369986MCCc.1643+7C>T (n.1643+7C>T)
c.2213+7C>T (n.2213+7C>T)
c.1454+7C>T (n.1454+7C>T)
c.57+7C>T
c.1613+7C>T (n.1613+7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063977G=CA1573632469MCCc.1643+7C= (n.1643+7C=)
c.2213+7C= (n.2213+7C=)
c.1454+7C= (n.1454+7C=)
c.57+7C=
c.1613+7C= (n.1613+7C=)
5g.113063977G>TCA445979239MCCc.1643+7C>A (n.1643+7C>A)
c.2213+7C>A (n.2213+7C>A)
c.1454+7C>A (n.1454+7C>A)
c.57+7C>A
c.1613+7C>A (n.1613+7C>A)
 gnomAD v4
5g.113063978C>ACA1573632471MCCc.1643+6G>T (n.1643+6G>T)
c.2213+6G>T (n.2213+6G>T)
c.1454+6G>T (n.1454+6G>T)
c.57+6G>T
c.1613+6G>T (n.1613+6G>T)
 dbSNP gnomAD v4
5g.113063978C=CA1573632470MCCc.1643+6G= (n.1643+6G=)
c.2213+6G= (n.2213+6G=)
c.1454+6G= (n.1454+6G=)
c.57+6G=
c.1613+6G= (n.1613+6G=)
5g.113063978C>TCA3369987MCCc.1643+6G>A (n.1643+6G>A)
c.2213+6G>A (n.2213+6G>A)
c.1454+6G>A (n.1454+6G>A)
c.57+6G>A
c.1613+6G>A (n.1613+6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063979_113063982dupCA3369988MCCc.1643+2_1643+5dup (n.1643+2_1643+5dup)
c.2213+2_2213+5dup (n.2213+2_2213+5dup)
c.1454+2_1454+5dup (n.1454+2_1454+5dup)
c.57+2_57+5dup
c.1613+2_1613+5dup (n.1613+2_1613+5dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113063980T>ACA802094972MCCc.1643+4A>T (n.1643+4A>T)
c.2213+4A>T (n.2213+4A>T)
c.1454+4A>T (n.1454+4A>T)
c.57+4A>T
c.1613+4A>T (n.1613+4A>T)
 dbSNP gnomAD v3 gnomAD v4
5g.113063980T>CCA2674882397MCCc.1643+4A>G (n.1643+4A>G)
c.2213+4A>G (n.2213+4A>G)
c.1454+4A>G (n.1454+4A>G)
c.57+4A>G
c.1613+4A>G (n.1613+4A>G)
 gnomAD v4
5g.113063980T=CA1573632472MCCc.1643+4A= (n.1643+4A=)
c.2213+4A= (n.2213+4A=)
c.1454+4A= (n.1454+4A=)
c.57+4A=
c.1613+4A= (n.1613+4A=)
5g.113063981T>CCA1573632474MCCc.1643+3A>G (n.1643+3A>G)
c.2213+3A>G (n.2213+3A>G)
c.1454+3A>G (n.1454+3A>G)
c.57+3A>G
c.1613+3A>G (n.1613+3A>G)
 dbSNP gnomAD v4
5g.113063981T>GCA2674882398MCCc.1643+3A>C (n.1643+3A>C)
c.2213+3A>C (n.2213+3A>C)
c.1454+3A>C (n.1454+3A>C)
c.57+3A>C
c.1613+3A>C (n.1613+3A>C)
 gnomAD v4
5g.113063981T=CA1573632473MCCc.1643+3A= (n.1643+3A=)
c.2213+3A= (n.2213+3A=)
c.1454+3A= (n.1454+3A=)
c.57+3A=
c.1613+3A= (n.1613+3A=)
5g.113063982A=CA1573632475MCCc.1643+2T= (n.1643+2T=)
c.2213+2T= (n.2213+2T=)
c.1454+2T= (n.1454+2T=)
c.57+2T=
c.1613+2T= (n.1613+2T=)
5g.113063982A>CCA360626003MCCc.1643+2T>G (n.1643+2T>G)
c.2213+2T>G (n.2213+2T>G)
c.1454+2T>G (n.1454+2T>G)
c.57+2T>G
c.1613+2T>G (n.1613+2T>G)
 gnomAD v4
5g.113063982A>GCA360626004MCCc.1643+2T>C (n.1643+2T>C)
c.2213+2T>C (n.2213+2T>C)
c.1454+2T>C (n.1454+2T>C)
c.57+2T>C
c.1613+2T>C (n.1613+2T>C)
 dbSNP
5g.113063982A>TCA360626005MCCc.1643+2T>A (n.1643+2T>A)
c.2213+2T>A (n.2213+2T>A)
c.1454+2T>A (n.1454+2T>A)
c.57+2T>A
c.1613+2T>A (n.1613+2T>A)
5g.113063983C>ACA360626007MCCc.1643+1G>T (n.1643+1G>T)
c.2213+1G>T (n.2213+1G>T)
c.1454+1G>T (n.1454+1G>T)
c.57+1G>T
c.1613+1G>T (n.1613+1G>T)
5g.113063983C>GCA360626008MCCc.1643+1G>C (n.1643+1G>C)
c.2213+1G>C (n.2213+1G>C)
c.1454+1G>C (n.1454+1G>C)
c.57+1G>C
c.1613+1G>C (n.1613+1G>C)
5g.113063983C>TCA360626006MCCc.1643+1G>A (n.1643+1G>A)
c.2213+1G>A (n.2213+1G>A)
c.1454+1G>A (n.1454+1G>A)
c.57+1G>A
c.1613+1G>A (n.1613+1G>A)
5g.113063984C>ACA360626010MCCc.1643G>T (p.Ser548Ile)
c.2213G>T (p.Ser738Ile)
c.1454G>T (p.Ser485Ile)
c.57G>T
c.1613G>T (p.Ser538Ile)
 gnomAD v4
5g.113063984C>GCA360626009MCCc.1643G>C (p.Ser548Thr)
c.2213G>C (p.Ser738Thr)
c.1454G>C (p.Ser485Thr)
c.57G>C
c.1613G>C (p.Ser538Thr)
5g.113063984C>TCA360626011MCCc.1643G>A (p.Ser548Asn)
c.2213G>A (p.Ser738Asn)
c.1454G>A (p.Ser485Asn)
c.57G>A
c.1613G>A (p.Ser538Asn)
 gnomAD v4
5g.113063985T>ACA360626012MCCc.1642A>T (p.Ser548Cys)
c.2212A>T (p.Ser738Cys)
c.1453A>T (p.Ser485Cys)
c.56A>T
c.1612A>T (p.Ser538Cys)
5g.113063985T>CCA360626013MCCc.1642A>G (p.Ser548Gly)
c.2212A>G (p.Ser738Gly)
c.1453A>G (p.Ser485Gly)
c.56A>G
c.1612A>G (p.Ser538Gly)
5g.113063985T>GCA360626014MCCc.1642A>C (p.Ser548Arg)
c.2212A>C (p.Ser738Arg)
c.1453A>C (p.Ser485Arg)
c.56A>C
c.1612A>C (p.Ser538Arg)
5g.113063986G>ACA3369989MCCc.1641C>T (p.Thr547=)
c.2211C>T (p.Thr737=)
c.1452C>T (p.Thr484=)
c.55C>T
c.1611C>T (p.Thr537=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113063986G>CCA445979243MCCc.1641C>G (p.Thr547=)
c.2211C>G (p.Thr737=)
c.1452C>G (p.Thr484=)
c.55C>G
c.1611C>G (p.Thr537=)
 dbSNP gnomAD v4
5g.113063986G=CA1573632476MCCc.1641C= (p.Thr547=)
c.2211C= (p.Thr737=)
c.1452C= (p.Thr484=)
c.55C=
c.1611C= (p.Thr537=)
5g.113063986G>TCA445979242MCCc.1641C>A (p.Thr547=)
c.2211C>A (p.Thr737=)
c.1452C>A (p.Thr484=)
c.55C>A
c.1611C>A (p.Thr537=)
5g.113063987G>ACA360626015MCCc.1640C>T (p.Thr547Ile)
c.2210C>T (p.Thr737Ile)
c.1451C>T (p.Thr484Ile)
c.54C>T
c.1610C>T (p.Thr537Ile)
 gnomAD v4
5g.113063987G>CCA360626016MCCc.1640C>G (p.Thr547Ser)
c.2210C>G (p.Thr737Ser)
c.1451C>G (p.Thr484Ser)
c.54C>G
c.1610C>G (p.Thr537Ser)
 gnomAD v4
5g.113063987G=CA1573632477MCCc.1640C= (p.Thr547=)
c.2210C= (p.Thr737=)
c.1451C= (p.Thr484=)
c.54C=
c.1610C= (p.Thr537=)
5g.113063987G>TCA3369990MCCc.1640C>A (p.Thr547Asn)
c.2210C>A (p.Thr737Asn)
c.1451C>A (p.Thr484Asn)
c.54C>A
c.1610C>A (p.Thr537Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063988T>ACA360626017MCCc.1639A>T (p.Thr547Ser)
c.2209A>T (p.Thr737Ser)
c.1450A>T (p.Thr484Ser)
c.53A>T
c.1609A>T (p.Thr537Ser)
5g.113063988T>CCA360626018MCCc.1639A>G (p.Thr547Ala)
c.2209A>G (p.Thr737Ala)
c.1450A>G (p.Thr484Ala)
c.53A>G
c.1609A>G (p.Thr537Ala)
 gnomAD v4
5g.113063988T>GCA360626019MCCc.1639A>C (p.Thr547Pro)
c.2209A>C (p.Thr737Pro)
c.1450A>C (p.Thr484Pro)
c.53A>C
c.1609A>C (p.Thr537Pro)
5g.113063989G>ACA445979244MCCc.1638C>T (p.His546=)
c.2208C>T (p.His736=)
c.1449C>T (p.His483=)
c.52C>T
c.1608C>T (p.His536=)
 dbSNP gnomAD v2
5g.113063989G>CCA360626020MCCc.1638C>G (p.His546Gln)
c.2208C>G (p.His736Gln)
c.1449C>G (p.His483Gln)
c.52C>G
c.1608C>G (p.His536Gln)
5g.113063989G=CA1573632478MCCc.1638C= (p.His546=)
c.2208C= (p.His736=)
c.1449C= (p.His483=)
c.52C=
c.1608C= (p.His536=)
5g.113063989G>TCA360626021MCCc.1638C>A (p.His546Gln)
c.2208C>A (p.His736Gln)
c.1449C>A (p.His483Gln)
c.52C>A
c.1608C>A (p.His536Gln)
5g.113063990T>ACA360626023MCCc.1637A>T (p.His546Leu)
c.2207A>T (p.His736Leu)
c.1448A>T (p.His483Leu)
c.51A>T
c.1607A>T (p.His536Leu)
5g.113063990T>CCA3369991MCCc.1637A>G (p.His546Arg)
c.2207A>G (p.His736Arg)
c.1448A>G (p.His483Arg)
c.51A>G
c.1607A>G (p.His536Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113063990T>GCA360626022MCCc.1637A>C (p.His546Pro)
c.2207A>C (p.His736Pro)
c.1448A>C (p.His483Pro)
c.51A>C
c.1607A>C (p.His536Pro)
5g.113063990T=CA1573632480MCCc.1637A= (p.His546=)
c.2207A= (p.His736=)
c.1448A= (p.His483=)
c.51A=
c.1607A= (p.His536=)
5g.113063990_113063991delinsTGCA1573632479MCCc.1636_1637delinsCA (p.His546=)
c.2206_2207delinsCA (p.His736=)
c.1447_1448delinsCA (p.His483=)
c.50_51delinsCA
c.1606_1607delinsCA (p.His536=)
5g.113063991G>ACA124994494MCCc.1636C>T (p.His546Tyr)
c.2206C>T (p.His736Tyr)
c.1447C>T (p.His483Tyr)
c.50C>T
c.1606C>T (p.His536Tyr)
 dbSNP gnomAD v3 gnomAD v4
5g.113063991G>CCA360626024MCCc.1636C>G (p.His546Asp)
c.2206C>G (p.His736Asp)
c.1447C>G (p.His483Asp)
c.50C>G
c.1606C>G (p.His536Asp)
 gnomAD v4
5g.113063991G=CA1573632481MCCc.1636C= (p.His546=)
c.2206C= (p.His736=)
c.1447C= (p.His483=)
c.50C=
c.1606C= (p.His536=)
5g.113063991G>TCA360626025MCCc.1636C>A (p.His546Asn)
c.2206C>A (p.His736Asn)
c.1447C>A (p.His483Asn)
c.50C>A
c.1606C>A (p.His536Asn)
5g.113063992delCA1080235656MCCc.1636del (p.His546ThrfsTer24)
c.2206del (p.His736ThrfsTer24)
c.1447del (p.His483ThrfsTer24)
c.50del
c.1606del (p.His536ThrfsTer24)
 dbSNP gnomAD v3 gnomAD v4
5g.113063992G>ACA445979248MCCc.1635C>T (p.Ser545=)
c.2205C>T (p.Ser735=)
c.1446C>T (p.Ser482=)
c.49C>T
c.1605C>T (p.Ser535=)
5g.113063992G>CCA360626026MCCc.1635C>G (p.Ser545Arg)
c.2205C>G (p.Ser735Arg)
c.1446C>G (p.Ser482Arg)
c.49C>G
c.1605C>G (p.Ser535Arg)
 gnomAD v4
5g.113063992G=CA1573632482MCCc.1635C= (p.Ser545=)
c.2205C= (p.Ser735=)
c.1446C= (p.Ser482=)
c.49C=
c.1605C= (p.Ser535=)
5g.113063992G>TCA3369992MCCc.1635C>A (p.Ser545Arg)
c.2205C>A (p.Ser735Arg)
c.1446C>A (p.Ser482Arg)
c.49C>A
c.1605C>A (p.Ser535Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063993C>ACA360626027MCCc.1634G>T (p.Ser545Ile)
c.2204G>T (p.Ser735Ile)
c.1445G>T (p.Ser482Ile)
c.48G>T
c.1604G>T (p.Ser535Ile)
 dbSNP gnomAD v4
5g.113063993C=CA1573632483MCCc.1634G= (p.Ser545=)
c.2204G= (p.Ser735=)
c.1445G= (p.Ser482=)
c.48G=
c.1604G= (p.Ser535=)
5g.113063993C>GCA360626028MCCc.1634G>C (p.Ser545Thr)
c.2204G>C (p.Ser735Thr)
c.1445G>C (p.Ser482Thr)
c.48G>C
c.1604G>C (p.Ser535Thr)
 dbSNP gnomAD v4
5g.113063993C>TCA360626029MCCc.1634G>A (p.Ser545Asn)
c.2204G>A (p.Ser735Asn)
c.1445G>A (p.Ser482Asn)
c.48G>A
c.1604G>A (p.Ser535Asn)
 gnomAD v4
5g.113063994T>ACA360626030MCCc.1633A>T (p.Ser545Cys)
c.2203A>T (p.Ser735Cys)
c.1444A>T (p.Ser482Cys)
c.47A>T
c.1603A>T (p.Ser535Cys)
5g.113063994T>CCA360626031MCCc.1633A>G (p.Ser545Gly)
c.2203A>G (p.Ser735Gly)
c.1444A>G (p.Ser482Gly)
c.47A>G
c.1603A>G (p.Ser535Gly)
5g.113063994T>GCA360626032MCCc.1633A>C (p.Ser545Arg)
c.2203A>C (p.Ser735Arg)
c.1444A>C (p.Ser482Arg)
c.47A>C
c.1603A>C (p.Ser535Arg)
5g.113063994T=CA1573632484MCCc.1633A= (p.Ser545=)
c.2203A= (p.Ser735=)
c.1444A= (p.Ser482=)
c.47A=
c.1603A= (p.Ser535=)
5g.113063995G>ACA445979249MCCc.1632C>T (p.Asn544=)
c.2202C>T (p.Asn734=)
c.1443C>T (p.Asn481=)
c.46C>T
c.1602C>T (p.Asn534=)
 gnomAD v2 gnomAD v4
5g.113063995G>CCA360626034MCCc.1632C>G (p.Asn544Lys)
c.2202C>G (p.Asn734Lys)
c.1443C>G (p.Asn481Lys)
c.46C>G
c.1602C>G (p.Asn534Lys)
5g.113063995G>TCA360626033MCCc.1632C>A (p.Asn544Lys)
c.2202C>A (p.Asn734Lys)
c.1443C>A (p.Asn481Lys)
c.46C>A
c.1602C>A (p.Asn534Lys)
5g.113063995dupCA124994502MCCc.1632dup (p.Ser545GlnfsTer12)
c.2202dup (p.Ser735GlnfsTer12)
c.1443dup (p.Ser482GlnfsTer12)
c.46dup
c.1602dup (p.Ser535GlnfsTer12)
 dbSNP
5g.113063995_113063997delinsGTTCA1573632485MCCc.1630_1632delinsAAC (p.Asn544=)
c.2200_2202delinsAAC (p.Asn734=)
c.1441_1443delinsAAC (p.Asn481=)
c.44_46delinsAAC
c.1600_1602delinsAAC (p.Asn534=)
5g.113063996T>ACA360626035MCCc.1631A>T (p.Asn544Ile)
c.2201A>T (p.Asn734Ile)
c.1442A>T (p.Asn481Ile)
c.45A>T
c.1601A>T (p.Asn534Ile)
5g.113063996T>CCA360626036MCCc.1631A>G (p.Asn544Ser)
c.2201A>G (p.Asn734Ser)
c.1442A>G (p.Asn481Ser)
c.45A>G
c.1601A>G (p.Asn534Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.113063996T>GCA3369994MCCc.1631A>C (p.Asn544Thr)
c.2201A>C (p.Asn734Thr)
c.1442A>C (p.Asn481Thr)
c.45A>C
c.1601A>C (p.Asn534Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113063996T=CA1573632486MCCc.1631A= (p.Asn544=)
c.2201A= (p.Asn734=)
c.1442A= (p.Asn481=)
c.45A=
c.1601A= (p.Asn534=)
5g.113063996_113063997delCA3369993MCCc.1630_1631del (p.Asn544GlnfsTer12)
c.2200_2201del (p.Asn734GlnfsTer12)
c.1441_1442del (p.Asn481GlnfsTer12)
c.44_45del
c.1600_1601del (p.Asn534GlnfsTer12)
 dbSNP ExAC gnomAD v2
5g.113063997T>ACA360626037MCCc.1630A>T (p.Asn544Tyr)
c.2200A>T (p.Asn734Tyr)
c.1441A>T (p.Asn481Tyr)
c.44A>T
c.1600A>T (p.Asn534Tyr)
5g.113063997T>CCA360626038MCCc.1630A>G (p.Asn544Asp)
c.2200A>G (p.Asn734Asp)
c.1441A>G (p.Asn481Asp)
c.44A>G
c.1600A>G (p.Asn534Asp)
5g.113063997T>GCA3369995MCCc.1630A>C (p.Asn544His)
c.2200A>C (p.Asn734His)
c.1441A>C (p.Asn481His)
c.44A>C
c.1600A>C (p.Asn534His)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113063997T=CA1573632487MCCc.1630A= (p.Asn544=)
c.2200A= (p.Asn734=)
c.1441A= (p.Asn481=)
c.44A=
c.1600A= (p.Asn534=)
5g.113063998G>ACA445979253MCCc.1629C>T (p.Ser543=)
c.2199C>T (p.Ser733=)
c.1440C>T (p.Ser480=)
c.43C>T
c.1599C>T (p.Ser533=)
 gnomAD v4
5g.113063998G>CCA445979254MCCc.1629C>G (p.Ser543=)
c.2199C>G (p.Ser733=)
c.1440C>G (p.Ser480=)
c.43C>G
c.1599C>G (p.Ser533=)
5g.113063998G>TCA445979256MCCc.1629C>A (p.Ser543=)
c.2199C>A (p.Ser733=)
c.1440C>A (p.Ser480=)
c.43C>A
c.1599C>A (p.Ser533=)
5g.113063999G>ACA3369996MCCc.1628C>T (p.Ser543Phe)
c.2198C>T (p.Ser733Phe)
c.1439C>T (p.Ser480Phe)
c.42C>T
c.1598C>T (p.Ser533Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113063999G>CCA360626039MCCc.1628C>G (p.Ser543Cys)
c.2198C>G (p.Ser733Cys)
c.1439C>G (p.Ser480Cys)
c.42C>G
c.1598C>G (p.Ser533Cys)
5g.113063999G=CA1573632488MCCc.1628C= (p.Ser543=)
c.2198C= (p.Ser733=)
c.1439C= (p.Ser480=)
c.42C=
c.1598C= (p.Ser533=)
5g.113063999G>TCA360626040MCCc.1628C>A (p.Ser543Tyr)
c.2198C>A (p.Ser733Tyr)
c.1439C>A (p.Ser480Tyr)
c.42C>A
c.1598C>A (p.Ser533Tyr)
5g.113064000A=CA1573632489MCCc.1627T= (p.Ser543=)
c.2197T= (p.Ser733=)
c.1438T= (p.Ser480=)
c.41T=
c.1597T= (p.Ser533=)
5g.113064000A>CCA360626041MCCc.1627T>G (p.Ser543Ala)
c.2197T>G (p.Ser733Ala)
c.1438T>G (p.Ser480Ala)
c.41T>G
c.1597T>G (p.Ser533Ala)
 dbSNP
5g.113064000A>GCA3369997MCCc.1627T>C (p.Ser543Pro)
c.2197T>C (p.Ser733Pro)
c.1438T>C (p.Ser480Pro)
c.41T>C
c.1597T>C (p.Ser533Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064000A>TCA3369998MCCc.1627T>A (p.Ser543Thr)
c.2197T>A (p.Ser733Thr)
c.1438T>A (p.Ser480Thr)
c.41T>A
c.1597T>A (p.Ser533Thr)
 dbSNP ExAC gnomAD v4
5g.113064001G>ACA445979264MCCc.1626C>T (p.Ser542=)
c.2196C>T (p.Ser732=)
c.1437C>T (p.Ser479=)
c.40C>T
c.1596C>T (p.Ser532=)
 dbSNP gnomAD v4
5g.113064001G>CCA445979259MCCc.1626C>G (p.Ser542=)
c.2196C>G (p.Ser732=)
c.1437C>G (p.Ser479=)
c.40C>G
c.1596C>G (p.Ser532=)
5g.113064001G=CA1573632490MCCc.1626C= (p.Ser542=)
c.2196C= (p.Ser732=)
c.1437C= (p.Ser479=)
c.40C=
c.1596C= (p.Ser532=)
5g.113064001G>TCA445979261MCCc.1626C>A (p.Ser542=)
c.2196C>A (p.Ser732=)
c.1437C>A (p.Ser479=)
c.40C>A
c.1596C>A (p.Ser532=)
5g.113064002G>ACA360626044MCCc.1625C>T (p.Ser542Phe)
c.2195C>T (p.Ser732Phe)
c.1436C>T (p.Ser479Phe)
c.39C>T
c.1595C>T (p.Ser532Phe)
5g.113064002G>CCA360626042MCCc.1625C>G (p.Ser542Cys)
c.2195C>G (p.Ser732Cys)
c.1436C>G (p.Ser479Cys)
c.39C>G
c.1595C>G (p.Ser532Cys)
5g.113064002G>TCA360626043MCCc.1625C>A (p.Ser542Tyr)
c.2195C>A (p.Ser732Tyr)
c.1436C>A (p.Ser479Tyr)
c.39C>A
c.1595C>A (p.Ser532Tyr)
5g.113064002_113064042delinsGAAAGGCTCTCCCAGGGCTGCACGCTGCAGCCGGCCACGGCCA1573632491MCCc.1585_1625delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala529=)
c.2155_2195delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala719=)
c.1396_1436delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala466=)
c.1555_1595delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala519=)
5g.113064003A=CA1573632492MCCc.1624T= (p.Ser542=)
c.2194T= (p.Ser732=)
c.1435T= (p.Ser479=)
c.38T=
c.1594T= (p.Ser532=)
5g.113064003A>CCA360626045MCCc.1624T>G (p.Ser542Ala)
c.2194T>G (p.Ser732Ala)
c.1435T>G (p.Ser479Ala)
c.38T>G
c.1594T>G (p.Ser532Ala)
5g.113064003A>GCA360626046MCCc.1624T>C (p.Ser542Pro)
c.2194T>C (p.Ser732Pro)
c.1435T>C (p.Ser479Pro)
c.38T>C
c.1594T>C (p.Ser532Pro)
 dbSNP
5g.113064003A>TCA360626047MCCc.1624T>A (p.Ser542Thr)
c.2194T>A (p.Ser732Thr)
c.1435T>A (p.Ser479Thr)
c.38T>A
c.1594T>A (p.Ser532Thr)
5g.113064011_113064050delCA3369999MCCc.1585_1624del (p.Ala529ProfsTer28)
c.2155_2194del (p.Ala719ProfsTer28)
c.1396_1435del (p.Ala466ProfsTer28)
c.1555_1594del (p.Ala519ProfsTer28)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064004A>CCA445979267MCCc.1623T>G (p.Leu541=)
c.2193T>G (p.Leu731=)
c.1434T>G (p.Leu478=)
c.37T>G
c.1593T>G (p.Leu531=)
5g.113064004A>GCA445979268MCCc.1623T>C (p.Leu541=)
c.2193T>C (p.Leu731=)
c.1434T>C (p.Leu478=)
c.37T>C
c.1593T>C (p.Leu531=)
5g.113064004A>TCA445979269MCCc.1623T>A (p.Leu541=)
c.2193T>A (p.Leu731=)
c.1434T>A (p.Leu478=)
c.37T>A
c.1593T>A (p.Leu531=)
5g.113064005A>CCA360626048MCCc.1622T>G (p.Leu541Arg)
c.2192T>G (p.Leu731Arg)
c.1433T>G (p.Leu478Arg)
c.36T>G
c.1592T>G (p.Leu531Arg)
5g.113064005A>GCA360626049MCCc.1622T>C (p.Leu541Pro)
c.2192T>C (p.Leu731Pro)
c.1433T>C (p.Leu478Pro)
c.36T>C
c.1592T>C (p.Leu531Pro)
5g.113064005A>TCA360626050MCCc.1622T>A (p.Leu541His)
c.2192T>A (p.Leu731His)
c.1433T>A (p.Leu478His)
c.36T>A
c.1592T>A (p.Leu531His)
5g.113064006G>ACA360626051MCCc.1621C>T (p.Leu541Phe)
c.2191C>T (p.Leu731Phe)
c.1432C>T (p.Leu478Phe)
c.35C>T
c.1591C>T (p.Leu531Phe)
5g.113064006G>CCA360626052MCCc.1621C>G (p.Leu541Val)
c.2191C>G (p.Leu731Val)
c.1432C>G (p.Leu478Val)
c.35C>G
c.1591C>G (p.Leu531Val)
5g.113064006G>TCA360626053MCCc.1621C>A (p.Leu541Ile)
c.2191C>A (p.Leu731Ile)
c.1432C>A (p.Leu478Ile)
c.35C>A
c.1591C>A (p.Leu531Ile)
5g.113064007G>ACA445979274MCCc.1620C>T (p.Ser540=)
c.2190C>T (p.Ser730=)
c.1431C>T (p.Ser477=)
c.34C>T
c.1590C>T (p.Ser530=)
5g.113064007G>CCA360626054MCCc.1620C>G (p.Ser540Arg)
c.2190C>G (p.Ser730Arg)
c.1431C>G (p.Ser477Arg)
c.34C>G
c.1590C>G (p.Ser530Arg)
 gnomAD v4
5g.113064007G>TCA360626055MCCc.1620C>A (p.Ser540Arg)
c.2190C>A (p.Ser730Arg)
c.1431C>A (p.Ser477Arg)
c.34C>A
c.1590C>A (p.Ser530Arg)
5g.113064008C>ACA360626057MCCc.1619G>T (p.Ser540Ile)
c.2189G>T (p.Ser730Ile)
c.1430G>T (p.Ser477Ile)
c.33G>T
c.1589G>T (p.Ser530Ile)
5g.113064008C=CA1573632493MCCc.1619G= (p.Ser540=)
c.2189G= (p.Ser730=)
c.1430G= (p.Ser477=)
c.33G=
c.1589G= (p.Ser530=)
5g.113064008C>GCA360626058MCCc.1619G>C (p.Ser540Thr)
c.2189G>C (p.Ser730Thr)
c.1430G>C (p.Ser477Thr)
c.33G>C
c.1589G>C (p.Ser530Thr)
5g.113064008C>TCA360626056MCCc.1619G>A (p.Ser540Asn)
c.2189G>A (p.Ser730Asn)
c.1430G>A (p.Ser477Asn)
c.33G>A
c.1589G>A (p.Ser530Asn)
 dbSNP
5g.113064009T>ACA360626061MCCc.1618A>T (p.Ser540Cys)
c.2188A>T (p.Ser730Cys)
c.1429A>T (p.Ser477Cys)
c.32A>T
c.1588A>T (p.Ser530Cys)
5g.113064009T>CCA360626059MCCc.1618A>G (p.Ser540Gly)
c.2188A>G (p.Ser730Gly)
c.1429A>G (p.Ser477Gly)
c.32A>G
c.1588A>G (p.Ser530Gly)
5g.113064009T>GCA360626060MCCc.1618A>C (p.Ser540Arg)
c.2188A>C (p.Ser730Arg)
c.1429A>C (p.Ser477Arg)
c.32A>C
c.1588A>C (p.Ser530Arg)
5g.113064010C>ACA360626062MCCc.1617G>T (p.Glu539Asp)
c.2187G>T (p.Glu729Asp)
c.1428G>T (p.Glu476Asp)
c.31G>T
c.1587G>T (p.Glu529Asp)
5g.113064010C>GCA360626063MCCc.1617G>C (p.Glu539Asp)
c.2187G>C (p.Glu729Asp)
c.1428G>C (p.Glu476Asp)
c.31G>C
c.1587G>C (p.Glu529Asp)
5g.113064010C>TCA445979276MCCc.1617G>A (p.Glu539=)
c.2187G>A (p.Glu729=)
c.1428G>A (p.Glu476=)
c.31G>A
c.1587G>A (p.Glu529=)
 gnomAD v4
5g.113064011T>ACA360626064MCCc.1616A>T (p.Glu539Val)
c.2186A>T (p.Glu729Val)
c.1427A>T (p.Glu476Val)
c.30A>T
c.1586A>T (p.Glu529Val)
5g.113064011T>CCA360626065MCCc.1616A>G (p.Glu539Gly)
c.2186A>G (p.Glu729Gly)
c.1427A>G (p.Glu476Gly)
c.30A>G
c.1586A>G (p.Glu529Gly)
5g.113064011T>GCA360626066MCCc.1616A>C (p.Glu539Ala)
c.2186A>C (p.Glu729Ala)
c.1427A>C (p.Glu476Ala)
c.30A>C
c.1586A>C (p.Glu529Ala)
5g.113064012C>ACA360626067MCCc.1615G>T (p.Glu539Ter)
c.2185G>T (p.Glu729Ter)
c.1426G>T (p.Glu476Ter)
c.29G>T
c.1585G>T (p.Glu529Ter)
5g.113064012C>GCA360626068MCCc.1615G>C (p.Glu539Gln)
c.2185G>C (p.Glu729Gln)
c.1426G>C (p.Glu476Gln)
c.29G>C
c.1585G>C (p.Glu529Gln)
5g.113064012C>TCA360626069MCCc.1615G>A (p.Glu539Lys)
c.2185G>A (p.Glu729Lys)
c.1426G>A (p.Glu476Lys)
c.29G>A
c.1585G>A (p.Glu529Lys)
 gnomAD v4
5g.113064013C>ACA360626070MCCc.1614G>T (p.Trp538Cys)
c.2184G>T (p.Trp728Cys)
c.1425G>T (p.Trp475Cys)
c.28G>T
c.1584G>T (p.Trp528Cys)
5g.113064013C=CA1573632494MCCc.1614G= (p.Trp538=)
c.2184G= (p.Trp728=)
c.1425G= (p.Trp475=)
c.28G=
c.1584G= (p.Trp528=)
5g.113064013C>GCA3370000MCCc.1614G>C (p.Trp538Cys)
c.2184G>C (p.Trp728Cys)
c.1425G>C (p.Trp475Cys)
c.28G>C
c.1584G>C (p.Trp528Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064013C>TCA360626071MCCc.1614G>A (p.Trp538Ter)
c.2184G>A (p.Trp728Ter)
c.1425G>A (p.Trp475Ter)
c.28G>A
c.1584G>A (p.Trp528Ter)
 dbSNP
5g.113064014C>ACA360626074MCCc.1613G>T (p.Trp538Leu)
c.2183G>T (p.Trp728Leu)
c.1424G>T (p.Trp475Leu)
c.27G>T
c.1583G>T (p.Trp528Leu)
5g.113064014C>GCA360626072MCCc.1613G>C (p.Trp538Ser)
c.2183G>C (p.Trp728Ser)
c.1424G>C (p.Trp475Ser)
c.27G>C
c.1583G>C (p.Trp528Ser)
5g.113064014C>TCA360626073MCCc.1613G>A (p.Trp538Ter)
c.2183G>A (p.Trp728Ter)
c.1424G>A (p.Trp475Ter)
c.27G>A
c.1583G>A (p.Trp528Ter)
5g.113064015A=CA1573632495MCCc.1612T= (p.Trp538=)
c.2182T= (p.Trp728=)
c.1423T= (p.Trp475=)
c.26T=
c.1582T= (p.Trp528=)
5g.113064015A>CCA360626075MCCc.1612T>G (p.Trp538Gly)
c.2182T>G (p.Trp728Gly)
c.1423T>G (p.Trp475Gly)
c.26T>G
c.1582T>G (p.Trp528Gly)
5g.113064015A>GCA360626076MCCc.1612T>C (p.Trp538Arg)
c.2182T>C (p.Trp728Arg)
c.1423T>C (p.Trp475Arg)
c.26T>C
c.1582T>C (p.Trp528Arg)
 dbSNP
5g.113064015A>TCA360626077MCCc.1612T>A (p.Trp538Arg)
c.2182T>A (p.Trp728Arg)
c.1423T>A (p.Trp475Arg)
c.26T>A
c.1582T>A (p.Trp528Arg)
5g.113064016G>ACA3370001MCCc.1611C>T (p.Pro537=)
c.2181C>T (p.Pro727=)
c.1422C>T (p.Pro474=)
c.25C>T
c.1581C>T (p.Pro527=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064016G>CCA445979278MCCc.1611C>G (p.Pro537=)
c.2181C>G (p.Pro727=)
c.1422C>G (p.Pro474=)
c.25C>G
c.1581C>G (p.Pro527=)
5g.113064016G=CA1573632496MCCc.1611C= (p.Pro537=)
c.2181C= (p.Pro727=)
c.1422C= (p.Pro474=)
c.25C=
c.1581C= (p.Pro527=)
5g.113064016G>TCA445979279MCCc.1611C>A (p.Pro537=)
c.2181C>A (p.Pro727=)
c.1422C>A (p.Pro474=)
c.25C>A
c.1581C>A (p.Pro527=)
5g.113064017G>ACA3370002MCCc.1610C>T (p.Pro537Leu)
c.2180C>T (p.Pro727Leu)
c.1421C>T (p.Pro474Leu)
c.24C>T
c.1580C>T (p.Pro527Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064017G>CCA360626078MCCc.1610C>G (p.Pro537Arg)
c.2180C>G (p.Pro727Arg)
c.1421C>G (p.Pro474Arg)
c.24C>G
c.1580C>G (p.Pro527Arg)
5g.113064017G=CA1573632497MCCc.1610C= (p.Pro537=)
c.2180C= (p.Pro727=)
c.1421C= (p.Pro474=)
c.24C=
c.1580C= (p.Pro527=)
5g.113064017G>TCA360626079MCCc.1610C>A (p.Pro537His)
c.2180C>A (p.Pro727His)
c.1421C>A (p.Pro474His)
c.24C>A
c.1580C>A (p.Pro527His)
5g.113064018G>ACA360626080MCCc.1609C>T (p.Pro537Ser)
c.2179C>T (p.Pro727Ser)
c.1420C>T (p.Pro474Ser)
c.23C>T
c.1579C>T (p.Pro527Ser)
5g.113064018G>CCA360626081MCCc.1609C>G (p.Pro537Ala)
c.2179C>G (p.Pro727Ala)
c.1420C>G (p.Pro474Ala)
c.23C>G
c.1579C>G (p.Pro527Ala)
5g.113064018G>TCA360626082MCCc.1609C>A (p.Pro537Thr)
c.2179C>A (p.Pro727Thr)
c.1420C>A (p.Pro474Thr)
c.23C>A
c.1579C>A (p.Pro527Thr)
5g.113064019C>ACA3370003MCCc.1608G>T (p.Gln536His)
c.2178G>T (p.Gln726His)
c.1419G>T (p.Gln473His)
c.22G>T
c.1578G>T (p.Gln526His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064019C=CA1573632498MCCc.1608G= (p.Gln536=)
c.2178G= (p.Gln726=)
c.1419G= (p.Gln473=)
c.22G=
c.1578G= (p.Gln526=)
5g.113064019C>GCA360626083MCCc.1608G>C (p.Gln536His)
c.2178G>C (p.Gln726His)
c.1419G>C (p.Gln473His)
c.22G>C
c.1578G>C (p.Gln526His)
5g.113064019C>TCA445979281MCCc.1608G>A (p.Gln536=)
c.2178G>A (p.Gln726=)
c.1419G>A (p.Gln473=)
c.22G>A
c.1578G>A (p.Gln526=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064020T>ACA360626085MCCc.1607A>T (p.Gln536Leu)
c.2177A>T (p.Gln726Leu)
c.1418A>T (p.Gln473Leu)
c.21A>T
c.1577A>T (p.Gln526Leu)
5g.113064020T>CCA360626086MCCc.1607A>G (p.Gln536Arg)
c.2177A>G (p.Gln726Arg)
c.1418A>G (p.Gln473Arg)
c.21A>G
c.1577A>G (p.Gln526Arg)
 gnomAD v4
5g.113064020T>GCA360626084MCCc.1607A>C (p.Gln536Pro)
c.2177A>C (p.Gln726Pro)
c.1418A>C (p.Gln473Pro)
c.21A>C
c.1577A>C (p.Gln526Pro)
 gnomAD v4
5g.113064021G>ACA360626087MCCc.1606C>T (p.Gln536Ter)
c.2176C>T (p.Gln726Ter)
c.1417C>T (p.Gln473Ter)
c.20C>T
c.1576C>T (p.Gln526Ter)
5g.113064021G>CCA360626088MCCc.1606C>G (p.Gln536Glu)
c.2176C>G (p.Gln726Glu)
c.1417C>G (p.Gln473Glu)
c.20C>G
c.1576C>G (p.Gln526Glu)
5g.113064021G>TCA360626089MCCc.1606C>A (p.Gln536Lys)
c.2176C>A (p.Gln726Lys)
c.1417C>A (p.Gln473Lys)
c.20C>A
c.1576C>A (p.Gln526Lys)
5g.113064022C>ACA445979285MCCc.1605G>T (p.Val535=)
c.2175G>T (p.Val725=)
c.1416G>T (p.Val472=)
c.19G>T
c.1575G>T (p.Val525=)
5g.113064022C>GCA445979284MCCc.1605G>C (p.Val535=)
c.2175G>C (p.Val725=)
c.1416G>C (p.Val472=)
c.19G>C
c.1575G>C (p.Val525=)
5g.113064022C>TCA445979283MCCc.1605G>A (p.Val535=)
c.2175G>A (p.Val725=)
c.1416G>A (p.Val472=)
c.19G>A
c.1575G>A (p.Val525=)
5g.113064023A=CA1573632499MCCc.1604T= (p.Val535=)
c.2174T= (p.Val725=)
c.1415T= (p.Val472=)
c.18T=
c.1574T= (p.Val525=)
5g.113064023A>CCA360626090MCCc.1604T>G (p.Val535Gly)
c.2174T>G (p.Val725Gly)
c.1415T>G (p.Val472Gly)
c.18T>G
c.1574T>G (p.Val525Gly)
5g.113064023A>GCA360626091MCCc.1604T>C (p.Val535Ala)
c.2174T>C (p.Val725Ala)
c.1415T>C (p.Val472Ala)
c.18T>C
c.1574T>C (p.Val525Ala)
5g.113064023A>TCA124994547MCCc.1604T>A (p.Val535Glu)
c.2174T>A (p.Val725Glu)
c.1415T>A (p.Val472Glu)
c.18T>A
c.1574T>A (p.Val525Glu)
 dbSNP gnomAD v4
5g.113064024C>ACA360626092MCCc.1603G>T (p.Val535Leu)
c.2173G>T (p.Val725Leu)
c.1414G>T (p.Val472Leu)
c.17G>T
c.1573G>T (p.Val525Leu)
 gnomAD v4
5g.113064024C=CA1573632500MCCc.1603G= (p.Val535=)
c.2173G= (p.Val725=)
c.1414G= (p.Val472=)
c.17G=
c.1573G= (p.Val525=)
5g.113064024C>GCA360626093MCCc.1603G>C (p.Val535Leu)
c.2173G>C (p.Val725Leu)
c.1414G>C (p.Val472Leu)
c.17G>C
c.1573G>C (p.Val525Leu)
 gnomAD v4
5g.113064024C>TCA3370004MCCc.1603G>A (p.Val535Met)
c.2173G>A (p.Val725Met)
c.1414G>A (p.Val472Met)
c.17G>A
c.1573G>A (p.Val525Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064025G>ACA445979287MCCc.1602C>T (p.Ser534=)
c.2172C>T (p.Ser724=)
c.1413C>T (p.Ser471=)
c.16C>T
c.1572C>T (p.Ser524=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064025G>CCA360626094MCCc.1602C>G (p.Ser534Arg)
c.2172C>G (p.Ser724Arg)
c.1413C>G (p.Ser471Arg)
c.16C>G
c.1572C>G (p.Ser524Arg)
5g.113064025G=CA1573632501MCCc.1602C= (p.Ser534=)
c.2172C= (p.Ser724=)
c.1413C= (p.Ser471=)
c.16C=
c.1572C= (p.Ser524=)
5g.113064025G>TCA360626095MCCc.1602C>A (p.Ser534Arg)
c.2172C>A (p.Ser724Arg)
c.1413C>A (p.Ser471Arg)
c.16C>A
c.1572C>A (p.Ser524Arg)
5g.113064026C>ACA360626096MCCc.1601G>T (p.Ser534Ile)
c.2171G>T (p.Ser724Ile)
c.1412G>T (p.Ser471Ile)
c.15G>T
c.1571G>T (p.Ser524Ile)
5g.113064026C=CA1573632502MCCc.1601G= (p.Ser534=)
c.2171G= (p.Ser724=)
c.1412G= (p.Ser471=)
c.15G=
c.1571G= (p.Ser524=)
5g.113064026C>GCA360626097MCCc.1601G>C (p.Ser534Thr)
c.2171G>C (p.Ser724Thr)
c.1412G>C (p.Ser471Thr)
c.15G>C
c.1571G>C (p.Ser524Thr)
5g.113064026C>TCA124994549MCCc.1601G>A (p.Ser534Asn)
c.2171G>A (p.Ser724Asn)
c.1412G>A (p.Ser471Asn)
c.15G>A
c.1571G>A (p.Ser524Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064027T>ACA360626099MCCc.1600A>T (p.Ser534Cys)
c.2170A>T (p.Ser724Cys)
c.1411A>T (p.Ser471Cys)
c.14A>T
c.1570A>T (p.Ser524Cys)
5g.113064027T>CCA3370005MCCc.1600A>G (p.Ser534Gly)
c.2170A>G (p.Ser724Gly)
c.1411A>G (p.Ser471Gly)
c.14A>G
c.1570A>G (p.Ser524Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.113064027T>GCA360626098MCCc.1600A>C (p.Ser534Arg)
c.2170A>C (p.Ser724Arg)
c.1411A>C (p.Ser471Arg)
c.14A>C
c.1570A>C (p.Ser524Arg)
5g.113064027T=CA1573632503MCCc.1600A= (p.Ser534=)
c.2170A= (p.Ser724=)
c.1411A= (p.Ser471=)
c.14A=
c.1570A= (p.Ser524=)
5g.113064028G>ACA3370006MCCc.1599C>T (p.Cys533=)
c.2169C>T (p.Cys723=)
c.1410C>T (p.Cys470=)
c.13C>T
c.1569C>T (p.Cys523=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064028G>CCA360626100MCCc.1599C>G (p.Cys533Trp)
c.2169C>G (p.Cys723Trp)
c.1410C>G (p.Cys470Trp)
c.13C>G
c.1569C>G (p.Cys523Trp)
5g.113064028G=CA1573632504MCCc.1599C= (p.Cys533=)
c.2169C= (p.Cys723=)
c.1410C= (p.Cys470=)
c.13C=
c.1569C= (p.Cys523=)
5g.113064028G>TCA360626101MCCc.1599C>A (p.Cys533Ter)
c.2169C>A (p.Cys723Ter)
c.1410C>A (p.Cys470Ter)
c.13C>A
c.1569C>A (p.Cys523Ter)
5g.113064029C>ACA360626102MCCc.1598G>T (p.Cys533Phe)
c.2168G>T (p.Cys723Phe)
c.1409G>T (p.Cys470Phe)
c.12G>T
c.1568G>T (p.Cys523Phe)
 gnomAD v4
5g.113064029C>GCA360626103MCCc.1598G>C (p.Cys533Ser)
c.2168G>C (p.Cys723Ser)
c.1409G>C (p.Cys470Ser)
c.12G>C
c.1568G>C (p.Cys523Ser)
5g.113064029C>TCA360626104MCCc.1598G>A (p.Cys533Tyr)
c.2168G>A (p.Cys723Tyr)
c.1409G>A (p.Cys470Tyr)
c.12G>A
c.1568G>A (p.Cys523Tyr)
5g.113064030A=CA1573632505MCCc.1597T= (p.Cys533=)
c.2167T= (p.Cys723=)
c.1408T= (p.Cys470=)
c.11T=
c.1567T= (p.Cys523=)
5g.113064030A>CCA360626105MCCc.1597T>G (p.Cys533Gly)
c.2167T>G (p.Cys723Gly)
c.1408T>G (p.Cys470Gly)
c.11T>G
c.1567T>G (p.Cys523Gly)
5g.113064030A>GCA360626106MCCc.1597T>C (p.Cys533Arg)
c.2167T>C (p.Cys723Arg)
c.1408T>C (p.Cys470Arg)
c.11T>C
c.1567T>C (p.Cys523Arg)
5g.113064030A>TCA360626107MCCc.1597T>A (p.Cys533Ser)
c.2167T>A (p.Cys723Ser)
c.1408T>A (p.Cys470Ser)
c.11T>A
c.1567T>A (p.Cys523Ser)
 dbSNP gnomAD v4
5g.113064031G>ACA445979288MCCc.1596C>T (p.Gly532=)
c.2166C>T (p.Gly722=)
c.1407C>T (p.Gly469=)
c.10C>T
c.1566C>T (p.Gly522=)
 gnomAD v4
5g.113064031G>CCA445979289MCCc.1596C>G (p.Gly532=)
c.2166C>G (p.Gly722=)
c.1407C>G (p.Gly469=)
c.10C>G
c.1566C>G (p.Gly522=)
 gnomAD v4
5g.113064031G>TCA445979290MCCc.1596C>A (p.Gly532=)
c.2166C>A (p.Gly722=)
c.1407C>A (p.Gly469=)
c.10C>A
c.1566C>A (p.Gly522=)
5g.113064031_113064032delinsGCCA1573632506MCCc.1595_1596delinsGC (p.Gly532=)
c.2165_2166delinsGC (p.Gly722=)
c.1406_1407delinsGC (p.Gly469=)
c.9_10delinsGC
c.1565_1566delinsGC (p.Gly522=)
5g.113064032C>ACA360626108MCCc.1595G>T (p.Gly532Val)
c.2165G>T (p.Gly722Val)
c.1406G>T (p.Gly469Val)
c.9G>T
c.1565G>T (p.Gly522Val)
5g.113064032C>GCA360626109MCCc.1595G>C (p.Gly532Ala)
c.2165G>C (p.Gly722Ala)
c.1406G>C (p.Gly469Ala)
c.9G>C
c.1565G>C (p.Gly522Ala)
5g.113064032C>TCA360626110MCCc.1595G>A (p.Gly532Asp)
c.2165G>A (p.Gly722Asp)
c.1406G>A (p.Gly469Asp)
c.9G>A
c.1565G>A (p.Gly522Asp)
5g.113064033delCA3370007MCCc.1595del (p.Gly532AlafsTer?)
c.2165del (p.Gly722AlafsTer?)
c.1406del (p.Gly469AlafsTer?)
c.9del
c.1565del (p.Gly522AlafsTer?)
 dbSNP ExAC gnomAD v2
5g.113064033C>ACA360626112MCCc.1594G>T (p.Gly532Cys)
c.2164G>T (p.Gly722Cys)
c.1405G>T (p.Gly469Cys)
c.8G>T
c.1564G>T (p.Gly522Cys)
5g.113064033C=CA1573632507MCCc.1594G= (p.Gly532=)
c.2164G= (p.Gly722=)
c.1405G= (p.Gly469=)
c.8G=
c.1564G= (p.Gly522=)
5g.113064033C>GCA360626111MCCc.1594G>C (p.Gly532Arg)
c.2164G>C (p.Gly722Arg)
c.1405G>C (p.Gly469Arg)
c.8G>C
c.1564G>C (p.Gly522Arg)
5g.113064033C>TCA360626113MCCc.1594G>A (p.Gly532Ser)
c.2164G>A (p.Gly722Ser)
c.1405G>A (p.Gly469Ser)
c.8G>A
c.1564G>A (p.Gly522Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.113064034G>ACA3370008MCCc.1593C>T (p.Ala531=)
c.2163C>T (p.Ala721=)
c.1404C>T (p.Ala468=)
c.7C>T
c.1563C>T (p.Ala521=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064034G>CCA445979291MCCc.1593C>G (p.Ala531=)
c.2163C>G (p.Ala721=)
c.1404C>G (p.Ala468=)
c.7C>G
c.1563C>G (p.Ala521=)
5g.113064034G=CA1573632508MCCc.1593C= (p.Ala531=)
c.2163C= (p.Ala721=)
c.1404C= (p.Ala468=)
c.7C=
c.1563C= (p.Ala521=)
5g.113064034G>TCA445979292MCCc.1593C>A (p.Ala531=)
c.2163C>A (p.Ala721=)
c.1404C>A (p.Ala468=)
c.7C>A
c.1563C>A (p.Ala521=)
5g.113064035G>ACA360626114MCCc.1592C>T (p.Ala531Val)
c.2162C>T (p.Ala721Val)
c.1403C>T (p.Ala468Val)
c.6C>T
c.1562C>T (p.Ala521Val)
 gnomAD v4 COSMIC COSMIC
5g.113064035G>CCA360626116MCCc.1592C>G (p.Ala531Gly)
c.2162C>G (p.Ala721Gly)
c.1403C>G (p.Ala468Gly)
c.6C>G
c.1562C>G (p.Ala521Gly)
 gnomAD v4
5g.113064035G>TCA360626115MCCc.1592C>A (p.Ala531Asp)
c.2162C>A (p.Ala721Asp)
c.1403C>A (p.Ala468Asp)
c.6C>A
c.1562C>A (p.Ala521Asp)
5g.113064036C>ACA124994558MCCc.1591G>T (p.Ala531Ser)
c.2161G>T (p.Ala721Ser)
c.1402G>T (p.Ala468Ser)
c.5G>T
c.1561G>T (p.Ala521Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.113064036C=CA1573632509MCCc.1591G= (p.Ala531=)
c.2161G= (p.Ala721=)
c.1402G= (p.Ala468=)
c.5G=
c.1561G= (p.Ala521=)
5g.113064036C>GCA360626118MCCc.1591G>C (p.Ala531Pro)
c.2161G>C (p.Ala721Pro)
c.1402G>C (p.Ala468Pro)
c.5G>C
c.1561G>C (p.Ala521Pro)
5g.113064036C>TCA360626117MCCc.1591G>A (p.Ala531Thr)
c.2161G>A (p.Ala721Thr)
c.1402G>A (p.Ala468Thr)
c.5G>A
c.1561G>A (p.Ala521Thr)
5g.113064037C>ACA445979293MCCc.1590G>T (p.Val530=)
c.2160G>T (p.Val720=)
c.1401G>T (p.Val467=)
c.4G>T
c.1560G>T (p.Val520=)
5g.113064037C=CA1573632510MCCc.1590G= (p.Val530=)
c.2160G= (p.Val720=)
c.1401G= (p.Val467=)
c.4G=
c.1560G= (p.Val520=)
5g.113064037C>GCA445979294MCCc.1590G>C (p.Val530=)
c.2160G>C (p.Val720=)
c.1401G>C (p.Val467=)
c.4G>C
c.1560G>C (p.Val520=)
5g.113064037C>TCA445979295MCCc.1590G>A (p.Val530=)
c.2160G>A (p.Val720=)
c.1401G>A (p.Val467=)
c.4G>A
c.1560G>A (p.Val520=)
 dbSNP gnomAD v3 gnomAD v4
5g.113064038A>CCA360626119MCCc.1589T>G (p.Val530Gly)
c.2159T>G (p.Val720Gly)
c.1400T>G (p.Val467Gly)
c.3T>G
c.1559T>G (p.Val520Gly)
5g.113064038A>GCA360626121MCCc.1589T>C (p.Val530Ala)
c.2159T>C (p.Val720Ala)
c.1400T>C (p.Val467Ala)
c.3T>C
c.1559T>C (p.Val520Ala)
 gnomAD v4
5g.113064038A>TCA360626120MCCc.1589T>A (p.Val530Glu)
c.2159T>A (p.Val720Glu)
c.1400T>A (p.Val467Glu)
c.3T>A
c.1559T>A (p.Val520Glu)
5g.113064039C>ACA360626122MCCc.1588G>T (p.Val530Leu)
c.2158G>T (p.Val720Leu)
c.1399G>T (p.Val467Leu)
c.2G>T
c.1558G>T (p.Val520Leu)
5g.113064039C=CA1573632511MCCc.1588G= (p.Val530=)
c.2158G= (p.Val720=)
c.1399G= (p.Val467=)
c.2G=
c.1558G= (p.Val520=)
5g.113064039C>GCA360626123MCCc.1588G>C (p.Val530Leu)
c.2158G>C (p.Val720Leu)
c.1399G>C (p.Val467Leu)
c.2G>C
c.1558G>C (p.Val520Leu)
5g.113064039C>TCA3370009MCCc.1588G>A (p.Val530Met)
c.2158G>A (p.Val720Met)
c.1399G>A (p.Val467Met)
c.2G>A
c.1558G>A (p.Val520Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064040G>ACA3370010MCCc.1587C>T (p.Ala529=)
c.2157C>T (p.Ala719=)
c.1398C>T (p.Ala466=)
c.1C>T
c.1557C>T (p.Ala519=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064040G>CCA445979296MCCc.1587C>G (p.Ala529=)
c.2157C>G (p.Ala719=)
c.1398C>G (p.Ala466=)
c.1C>G
c.1557C>G (p.Ala519=)
 dbSNP
5g.113064040G=CA1573632512MCCc.1587C= (p.Ala529=)
c.2157C= (p.Ala719=)
c.1398C= (p.Ala466=)
c.1C=
c.1557C= (p.Ala519=)
5g.113064040G>TCA445979297MCCc.1587C>A (p.Ala529=)
c.2157C>A (p.Ala719=)
c.1398C>A (p.Ala466=)
c.1C>A
c.1557C>A (p.Ala519=)
 dbSNP
5g.113064041G>ACA3370011MCCc.1586C>T (p.Ala529Val)
c.2156C>T (p.Ala719Val)
c.1397C>T (p.Ala466Val)
c.1556C>T (p.Ala519Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064041G>CCA360626124MCCc.1586C>G (p.Ala529Gly)
c.2156C>G (p.Ala719Gly)
c.1397C>G (p.Ala466Gly)
c.1556C>G (p.Ala519Gly)
5g.113064041G=CA1573632513MCCc.1586C= (p.Ala529=)
c.2156C= (p.Ala719=)
c.1397C= (p.Ala466=)
c.1556C= (p.Ala519=)
5g.113064041G>TCA360626125MCCc.1586C>A (p.Ala529Asp)
c.2156C>A (p.Ala719Asp)
c.1397C>A (p.Ala466Asp)
c.1556C>A (p.Ala519Asp)
5g.113064042delCA2710021729MCCc.1585del (p.Ala529ProfsTer?)
c.2155del (p.Ala719ProfsTer?)
c.1396del (p.Ala466ProfsTer?)
c.1555del (p.Ala519ProfsTer?)
 dbSNP
5g.113064042C>ACA3370012MCCc.1585G>T (p.Ala529Ser)
c.2155G>T (p.Ala719Ser)
c.1396G>T (p.Ala466Ser)
c.1555G>T (p.Ala519Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064042C=CA1573632514MCCc.1585G= (p.Ala529=)
c.2155G= (p.Ala719=)
c.1396G= (p.Ala466=)
c.1555G= (p.Ala519=)
5g.113064042C>GCA360626126MCCc.1585G>C (p.Ala529Pro)
c.2155G>C (p.Ala719Pro)
c.1396G>C (p.Ala466Pro)
c.1555G>C (p.Ala519Pro)
5g.113064042C>TCA3370013MCCc.1585G>A (p.Ala529Thr)
c.2155G>A (p.Ala719Thr)
c.1396G>A (p.Ala466Thr)
c.1555G>A (p.Ala519Thr)
 dbSNP ExAC
5g.113064043A>CCA360626127MCCc.1584T>G (p.Phe528Leu)
c.2154T>G (p.Phe718Leu)
c.1395T>G (p.Phe465Leu)
c.1554T>G (p.Phe518Leu)
5g.113064043A>GCA445979298MCCc.1584T>C (p.Phe528=)
c.2154T>C (p.Phe718=)
c.1395T>C (p.Phe465=)
c.1554T>C (p.Phe518=)
5g.113064043A>TCA360626128MCCc.1584T>A (p.Phe528Leu)
c.2154T>A (p.Phe718Leu)
c.1395T>A (p.Phe465Leu)
c.1554T>A (p.Phe518Leu)
5g.113064044A>CCA360626129MCCc.1583T>G (p.Phe528Cys)
c.2153T>G (p.Phe718Cys)
c.1394T>G (p.Phe465Cys)
c.1553T>G (p.Phe518Cys)
5g.113064044A>GCA360626130MCCc.1583T>C (p.Phe528Ser)
c.2153T>C (p.Phe718Ser)
c.1394T>C (p.Phe465Ser)
c.1553T>C (p.Phe518Ser)
5g.113064044A>TCA360626131MCCc.1583T>A (p.Phe528Tyr)
c.2153T>A (p.Phe718Tyr)
c.1394T>A (p.Phe465Tyr)
c.1553T>A (p.Phe518Tyr)
5g.113064044_113064046delCA2674882399MCCc.1581_1583del (p.Phe528del)
c.2151_2153del (p.Phe718del)
c.1392_1394del (p.Phe465del)
c.1551_1553del (p.Phe518del)
 gnomAD v4
5g.113064045A>CCA360626134MCCc.1582T>G (p.Phe528Val)
c.2152T>G (p.Phe718Val)
c.1393T>G (p.Phe465Val)
c.1552T>G (p.Phe518Val)
5g.113064045A>GCA360626133MCCc.1582T>C (p.Phe528Leu)
c.2152T>C (p.Phe718Leu)
c.1393T>C (p.Phe465Leu)
c.1552T>C (p.Phe518Leu)
5g.113064045A>TCA360626132MCCc.1582T>A (p.Phe528Ile)
c.2152T>A (p.Phe718Ile)
c.1393T>A (p.Phe465Ile)
c.1552T>A (p.Phe518Ile)
5g.113064046G>ACA445979299MCCc.1581C>T (p.Ala527=)
c.2151C>T (p.Ala717=)
c.1392C>T (p.Ala464=)
c.1551C>T (p.Ala517=)
5g.113064046G>CCA445979300MCCc.1581C>G (p.Ala527=)
c.2151C>G (p.Ala717=)
c.1392C>G (p.Ala464=)
c.1551C>G (p.Ala517=)
5g.113064046G>TCA445979301MCCc.1581C>A (p.Ala527=)
c.2151C>A (p.Ala717=)
c.1392C>A (p.Ala464=)
c.1551C>A (p.Ala517=)
5g.113064047G>ACA3370014MCCc.1580C>T (p.Ala527Val)
c.2150C>T (p.Ala717Val)
c.1391C>T (p.Ala464Val)
c.1550C>T (p.Ala517Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.113064047G>CCA360626135MCCc.1580C>G (p.Ala527Gly)
c.2150C>G (p.Ala717Gly)
c.1391C>G (p.Ala464Gly)
c.1550C>G (p.Ala517Gly)
 dbSNP gnomAD v2 gnomAD v4
5g.113064047G=CA1573632515MCCc.1580C= (p.Ala527=)
c.2150C= (p.Ala717=)
c.1391C= (p.Ala464=)
c.1550C= (p.Ala517=)
5g.113064047G>TCA360626136MCCc.1580C>A (p.Ala527Asp)
c.2150C>A (p.Ala717Asp)
c.1391C>A (p.Ala464Asp)
c.1550C>A (p.Ala517Asp)
 gnomAD v4
5g.113064048C>ACA360626137MCCc.1579G>T (p.Ala527Ser)
c.2149G>T (p.Ala717Ser)
c.1390G>T (p.Ala464Ser)
c.1549G>T (p.Ala517Ser)
 dbSNP gnomAD v4
5g.113064048C=CA1573632516MCCc.1579G= (p.Ala527=)
c.2149G= (p.Ala717=)
c.1390G= (p.Ala464=)
c.1549G= (p.Ala517=)
5g.113064048C>GCA360626138MCCc.1579G>C (p.Ala527Pro)
c.2149G>C (p.Ala717Pro)
c.1390G>C (p.Ala464Pro)
c.1549G>C (p.Ala517Pro)
 gnomAD v4
5g.113064048C>TCA360626139MCCc.1579G>A (p.Ala527Thr)
c.2149G>A (p.Ala717Thr)
c.1390G>A (p.Ala464Thr)
c.1549G>A (p.Ala517Thr)
 gnomAD v4
5g.113064048_113064049insCCCA2674882400MCCc.1579_1580insGG (p.Ala527GlyfsTer?)
c.2149_2150insGG (p.Ala717GlyfsTer?)
c.1390_1391insGG (p.Ala464GlyfsTer?)
c.1549_1550insGG (p.Ala517GlyfsTer?)
 gnomAD v4
5g.113064049T>ACA445979302MCCc.1578A>T (p.Gly526=)
c.2148A>T (p.Gly716=)
c.1389A>T (p.Gly463=)
c.1548A>T (p.Gly516=)
5g.113064049T>CCA445979304MCCc.1578A>G (p.Gly526=)
c.2148A>G (p.Gly716=)
c.1389A>G (p.Gly463=)
c.1548A>G (p.Gly516=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.113064049T>GCA445979303MCCc.1578A>C (p.Gly526=)
c.2148A>C (p.Gly716=)
c.1389A>C (p.Gly463=)
c.1548A>C (p.Gly516=)
5g.113064049T=CA1573632517MCCc.1578A= (p.Gly526=)
c.2148A= (p.Gly716=)
c.1389A= (p.Gly463=)
c.1548A= (p.Gly516=)
5g.113064050C>ACA360626140MCCc.1577G>T (p.Gly526Val)
c.2147G>T (p.Gly716Val)
c.1388G>T (p.Gly463Val)
c.1547G>T (p.Gly516Val)
 gnomAD v4
5g.113064050C=CA1573632518MCCc.1577G= (p.Gly526=)
c.2147G= (p.Gly716=)
c.1388G= (p.Gly463=)
c.1547G= (p.Gly516=)
5g.113064050C>GCA360626141MCCc.1577G>C (p.Gly526Ala)
c.2147G>C (p.Gly716Ala)
c.1388G>C (p.Gly463Ala)
c.1547G>C (p.Gly516Ala)
 gnomAD v4
5g.113064050C>TCA360626142MCCc.1577G>A (p.Gly526Glu)
c.2147G>A (p.Gly716Glu)
c.1388G>A (p.Gly463Glu)
c.1547G>A (p.Gly516Glu)
 dbSNP
5g.113064054delCA2710021732MCCc.1577del (p.Gly526GlufsTer?)
c.2147del (p.Gly716GlufsTer?)
c.1388del (p.Gly463GlufsTer?)
c.1547del (p.Gly516GlufsTer?)
 dbSNP

Number of alleles fetched