Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.132084443dupCA2694717941FRMD7c.741+53dup (n.741+53dup)
c.381+53dup (n.381+53dup)
c.696+53dup (n.696+53dup)
c.693+53dup (n.693+53dup)
c.486+53dup (n.486+53dup)
c.267+53dup (n.267+53dup)
 gnomAD v4
Xg.132084443delCA2579704084FRMD7c.741+53del (n.741+53del)
c.381+53del (n.381+53del)
c.696+53del (n.696+53del)
c.693+53del (n.693+53del)
c.486+53del (n.486+53del)
c.267+53del (n.267+53del)
 gnomAD v4
Xg.132084440A>GCA2554700467FRMD7c.741+50T>C (n.741+50T>C)
c.381+50T>C (n.381+50T>C)
c.696+50T>C (n.696+50T>C)
c.693+50T>C (n.693+50T>C)
c.486+50T>C (n.486+50T>C)
c.267+50T>C (n.267+50T>C)
Xg.132084441A=CA2458955355FRMD7c.741+49T= (n.741+49T=)
c.381+49T= (n.381+49T=)
c.696+49T= (n.696+49T=)
c.693+49T= (n.693+49T=)
c.486+49T= (n.486+49T=)
c.267+49T= (n.267+49T=)
Xg.132084441A>TCA2458955356FRMD7c.741+49T>A (n.741+49T>A)
c.381+49T>A (n.381+49T>A)
c.696+49T>A (n.696+49T>A)
c.693+49T>A (n.693+49T>A)
c.486+49T>A (n.486+49T>A)
c.267+49T>A (n.267+49T>A)
 dbSNP
Xg.132084443A=CA2458955357FRMD7c.741+47T= (n.741+47T=)
c.381+47T= (n.381+47T=)
c.696+47T= (n.696+47T=)
c.693+47T= (n.693+47T=)
c.486+47T= (n.486+47T=)
c.267+47T= (n.267+47T=)
Xg.132084443A>TCA2458955358FRMD7c.741+47T>A (n.741+47T>A)
c.381+47T>A (n.381+47T>A)
c.696+47T>A (n.696+47T>A)
c.693+47T>A (n.693+47T>A)
c.486+47T>A (n.486+47T>A)
c.267+47T>A (n.267+47T>A)
 dbSNP
Xg.132084444T>ACA10518983FRMD7c.741+46A>T (n.741+46A>T)
c.381+46A>T (n.381+46A>T)
c.696+46A>T (n.696+46A>T)
c.693+46A>T (n.693+46A>T)
c.486+46A>T (n.486+46A>T)
c.267+46A>T (n.267+46A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084444T=CA2458955359FRMD7c.741+46A= (n.741+46A=)
c.381+46A= (n.381+46A=)
c.696+46A= (n.696+46A=)
c.693+46A= (n.693+46A=)
c.486+46A= (n.486+46A=)
c.267+46A= (n.267+46A=)
Xg.132084447C>ACA2694717942FRMD7c.741+43G>T (n.741+43G>T)
c.381+43G>T (n.381+43G>T)
c.696+43G>T (n.696+43G>T)
c.693+43G>T (n.693+43G>T)
c.486+43G>T (n.486+43G>T)
c.267+43G>T (n.267+43G>T)
 gnomAD v4
Xg.132084447C=CA2458955360FRMD7c.741+43G= (n.741+43G=)
c.381+43G= (n.381+43G=)
c.696+43G= (n.696+43G=)
c.693+43G= (n.693+43G=)
c.486+43G= (n.486+43G=)
c.267+43G= (n.267+43G=)
Xg.132084447C>GCA10518984FRMD7c.741+43G>C (n.741+43G>C)
c.381+43G>C (n.381+43G>C)
c.696+43G>C (n.696+43G>C)
c.693+43G>C (n.693+43G>C)
c.486+43G>C (n.486+43G>C)
c.267+43G>C (n.267+43G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084448C>ACA2694717943FRMD7c.741+42G>T (n.741+42G>T)
c.381+42G>T (n.381+42G>T)
c.696+42G>T (n.696+42G>T)
c.693+42G>T (n.693+42G>T)
c.486+42G>T (n.486+42G>T)
c.267+42G>T (n.267+42G>T)
 gnomAD v4
Xg.132084448C>TCA2694717944FRMD7c.741+42G>A (n.741+42G>A)
c.381+42G>A (n.381+42G>A)
c.696+42G>A (n.696+42G>A)
c.693+42G>A (n.693+42G>A)
c.486+42G>A (n.486+42G>A)
c.267+42G>A (n.267+42G>A)
 gnomAD v4
Xg.132084449A>TCA2823613636FRMD7c.741+41T>A (n.741+41T>A)
c.381+41T>A (n.381+41T>A)
c.696+41T>A (n.696+41T>A)
c.693+41T>A (n.693+41T>A)
c.486+41T>A (n.486+41T>A)
c.267+41T>A (n.267+41T>A)
Xg.132084450G>ACA10518985FRMD7c.741+40C>T (n.741+40C>T)
c.381+40C>T (n.381+40C>T)
c.696+40C>T (n.696+40C>T)
c.693+40C>T (n.693+40C>T)
c.486+40C>T (n.486+40C>T)
c.267+40C>T (n.267+40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084450G=CA2458955361FRMD7c.741+40C= (n.741+40C=)
c.381+40C= (n.381+40C=)
c.696+40C= (n.696+40C=)
c.693+40C= (n.693+40C=)
c.486+40C= (n.486+40C=)
c.267+40C= (n.267+40C=)
Xg.132084450G>TCA2694717945FRMD7c.741+40C>A (n.741+40C>A)
c.381+40C>A (n.381+40C>A)
c.696+40C>A (n.696+40C>A)
c.693+40C>A (n.693+40C>A)
c.486+40C>A (n.486+40C>A)
c.267+40C>A (n.267+40C>A)
 gnomAD v4
Xg.132084451T>CCA10518986FRMD7c.741+39A>G (n.741+39A>G)
c.381+39A>G (n.381+39A>G)
c.696+39A>G (n.696+39A>G)
c.693+39A>G (n.693+39A>G)
c.486+39A>G (n.486+39A>G)
c.267+39A>G (n.267+39A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084451T=CA2458955362FRMD7c.741+39A= (n.741+39A=)
c.381+39A= (n.381+39A=)
c.696+39A= (n.696+39A=)
c.693+39A= (n.693+39A=)
c.486+39A= (n.486+39A=)
c.267+39A= (n.267+39A=)
Xg.132084452G>TCA2694717946FRMD7c.741+38C>A (n.741+38C>A)
c.381+38C>A (n.381+38C>A)
c.696+38C>A (n.696+38C>A)
c.693+38C>A (n.693+38C>A)
c.486+38C>A (n.486+38C>A)
c.267+38C>A (n.267+38C>A)
 gnomAD v4
Xg.132084453A=CA2458955363FRMD7c.741+37T= (n.741+37T=)
c.381+37T= (n.381+37T=)
c.696+37T= (n.696+37T=)
c.693+37T= (n.693+37T=)
c.486+37T= (n.486+37T=)
c.267+37T= (n.267+37T=)
Xg.132084453A>GCA871606597FRMD7c.741+37T>C (n.741+37T>C)
c.381+37T>C (n.381+37T>C)
c.696+37T>C (n.696+37T>C)
c.693+37T>C (n.693+37T>C)
c.486+37T>C (n.486+37T>C)
c.267+37T>C (n.267+37T>C)
 dbSNP
Xg.132084454A>GCA2694717947FRMD7c.741+36T>C (n.741+36T>C)
c.381+36T>C (n.381+36T>C)
c.696+36T>C (n.696+36T>C)
c.693+36T>C (n.693+36T>C)
c.486+36T>C (n.486+36T>C)
c.267+36T>C (n.267+36T>C)
 gnomAD v4
Xg.132084455C>GCA2579704085FRMD7c.741+35G>C (n.741+35G>C)
c.381+35G>C (n.381+35G>C)
c.696+35G>C (n.696+35G>C)
c.693+35G>C (n.693+35G>C)
c.486+35G>C (n.486+35G>C)
c.267+35G>C (n.267+35G>C)
 gnomAD v4
Xg.132084455C>TCA2694717948FRMD7c.741+35G>A (n.741+35G>A)
c.381+35G>A (n.381+35G>A)
c.696+35G>A (n.696+35G>A)
c.693+35G>A (n.693+35G>A)
c.486+35G>A (n.486+35G>A)
c.267+35G>A (n.267+35G>A)
 gnomAD v4
Xg.132084457G>ACA10518987FRMD7c.741+33C>T (n.741+33C>T)
c.381+33C>T (n.381+33C>T)
c.696+33C>T (n.696+33C>T)
c.693+33C>T (n.693+33C>T)
c.486+33C>T (n.486+33C>T)
c.267+33C>T (n.267+33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084457G=CA2458955364FRMD7c.741+33C= (n.741+33C=)
c.381+33C= (n.381+33C=)
c.696+33C= (n.696+33C=)
c.693+33C= (n.693+33C=)
c.486+33C= (n.486+33C=)
c.267+33C= (n.267+33C=)
Xg.132084457G>TCA2694717949FRMD7c.741+33C>A (n.741+33C>A)
c.381+33C>A (n.381+33C>A)
c.696+33C>A (n.696+33C>A)
c.693+33C>A (n.693+33C>A)
c.486+33C>A (n.486+33C>A)
c.267+33C>A (n.267+33C>A)
 gnomAD v4
Xg.132084461G>ACA335857918FRMD7c.741+29C>T (n.741+29C>T)
c.381+29C>T (n.381+29C>T)
c.696+29C>T (n.696+29C>T)
c.693+29C>T (n.693+29C>T)
c.486+29C>T (n.486+29C>T)
c.267+29C>T (n.267+29C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084461G=CA2458955365FRMD7c.741+29C= (n.741+29C=)
c.381+29C= (n.381+29C=)
c.696+29C= (n.696+29C=)
c.693+29C= (n.693+29C=)
c.486+29C= (n.486+29C=)
c.267+29C= (n.267+29C=)
Xg.132084465delCA2601377565FRMD7c.741+27del (n.741+27del)
c.381+27del (n.381+27del)
c.696+27del (n.696+27del)
c.693+27del (n.693+27del)
c.486+27del (n.486+27del)
c.267+27del (n.267+27del)
 gnomAD v3 gnomAD v4
Xg.132084466C=CA2458955366FRMD7c.741+24G= (n.741+24G=)
c.381+24G= (n.381+24G=)
c.696+24G= (n.696+24G=)
c.693+24G= (n.693+24G=)
c.486+24G= (n.486+24G=)
c.267+24G= (n.267+24G=)
Xg.132084466C>TCA644491945FRMD7c.741+24G>A (n.741+24G>A)
c.381+24G>A (n.381+24G>A)
c.696+24G>A (n.696+24G>A)
c.693+24G>A (n.693+24G>A)
c.486+24G>A (n.486+24G>A)
c.267+24G>A (n.267+24G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084467G>ACA10518988FRMD7c.741+23C>T (n.741+23C>T)
c.381+23C>T (n.381+23C>T)
c.696+23C>T (n.696+23C>T)
c.693+23C>T (n.693+23C>T)
c.486+23C>T (n.486+23C>T)
c.267+23C>T (n.267+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084467G=CA2458955367FRMD7c.741+23C= (n.741+23C=)
c.381+23C= (n.381+23C=)
c.696+23C= (n.696+23C=)
c.693+23C= (n.693+23C=)
c.486+23C= (n.486+23C=)
c.267+23C= (n.267+23C=)
Xg.132084467G>TCA2579704086FRMD7c.741+23C>A (n.741+23C>A)
c.381+23C>A (n.381+23C>A)
c.696+23C>A (n.696+23C>A)
c.693+23C>A (n.693+23C>A)
c.486+23C>A (n.486+23C>A)
c.267+23C>A (n.267+23C>A)
 gnomAD v4
Xg.132084469A>GCA2694717950FRMD7c.741+21T>C (n.741+21T>C)
c.381+21T>C (n.381+21T>C)
c.696+21T>C (n.696+21T>C)
c.693+21T>C (n.693+21T>C)
c.486+21T>C (n.486+21T>C)
c.267+21T>C (n.267+21T>C)
 gnomAD v4
Xg.132084470T>CCA2694717951FRMD7c.741+20A>G (n.741+20A>G)
c.381+20A>G (n.381+20A>G)
c.696+20A>G (n.696+20A>G)
c.693+20A>G (n.693+20A>G)
c.486+20A>G (n.486+20A>G)
c.267+20A>G (n.267+20A>G)
 gnomAD v4
Xg.132084471T>ACA2579704087FRMD7c.741+19A>T (n.741+19A>T)
c.381+19A>T (n.381+19A>T)
c.696+19A>T (n.696+19A>T)
c.693+19A>T (n.693+19A>T)
c.486+19A>T (n.486+19A>T)
c.267+19A>T (n.267+19A>T)
Xg.132084471T>GCA644491950FRMD7c.741+19A>C (n.741+19A>C)
c.381+19A>C (n.381+19A>C)
c.696+19A>C (n.696+19A>C)
c.693+19A>C (n.693+19A>C)
c.486+19A>C (n.486+19A>C)
c.267+19A>C (n.267+19A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084471T=CA2458955368FRMD7c.741+19A= (n.741+19A=)
c.381+19A= (n.381+19A=)
c.696+19A= (n.696+19A=)
c.693+19A= (n.693+19A=)
c.486+19A= (n.486+19A=)
c.267+19A= (n.267+19A=)
Xg.132084472T>CCA2694717952FRMD7c.741+18A>G (n.741+18A>G)
c.381+18A>G (n.381+18A>G)
c.696+18A>G (n.696+18A>G)
c.693+18A>G (n.693+18A>G)
c.486+18A>G (n.486+18A>G)
c.267+18A>G (n.267+18A>G)
 gnomAD v4
Xg.132084475delCA2694717953FRMD7c.741+16del (n.741+16del)
c.381+16del (n.381+16del)
c.696+16del (n.696+16del)
c.693+16del (n.693+16del)
c.486+16del (n.486+16del)
c.267+16del (n.267+16del)
 gnomAD v4
Xg.132084475T>CCA2694717954FRMD7c.741+15A>G (n.741+15A>G)
c.381+15A>G (n.381+15A>G)
c.696+15A>G (n.696+15A>G)
c.693+15A>G (n.693+15A>G)
c.486+15A>G (n.486+15A>G)
c.267+15A>G (n.267+15A>G)
 gnomAD v4
Xg.132084476A=CA2458955369FRMD7c.741+14T= (n.741+14T=)
c.381+14T= (n.381+14T=)
c.696+14T= (n.696+14T=)
c.693+14T= (n.693+14T=)
c.486+14T= (n.486+14T=)
c.267+14T= (n.267+14T=)
Xg.132084476A>GCA335857919FRMD7c.741+14T>C (n.741+14T>C)
c.381+14T>C (n.381+14T>C)
c.696+14T>C (n.696+14T>C)
c.693+14T>C (n.693+14T>C)
c.486+14T>C (n.486+14T>C)
c.267+14T>C (n.267+14T>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.132084477G>TCA2694717955FRMD7c.741+13C>A (n.741+13C>A)
c.381+13C>A (n.381+13C>A)
c.696+13C>A (n.696+13C>A)
c.693+13C>A (n.693+13C>A)
c.486+13C>A (n.486+13C>A)
c.267+13C>A (n.267+13C>A)
 gnomAD v4
Xg.132084478A>GCA2694717956FRMD7c.741+12T>C (n.741+12T>C)
c.381+12T>C (n.381+12T>C)
c.696+12T>C (n.696+12T>C)
c.693+12T>C (n.693+12T>C)
c.486+12T>C (n.486+12T>C)
c.267+12T>C (n.267+12T>C)
 gnomAD v4
Xg.132084480delCA2579704088FRMD7c.741+12del (n.741+12del)
c.381+12del (n.381+12del)
c.696+12del (n.696+12del)
c.693+12del (n.693+12del)
c.486+12del (n.486+12del)
c.267+12del (n.267+12del)
Xg.132084479A>GCA2694717957FRMD7c.741+11T>C (n.741+11T>C)
c.381+11T>C (n.381+11T>C)
c.696+11T>C (n.696+11T>C)
c.693+11T>C (n.693+11T>C)
c.486+11T>C (n.486+11T>C)
c.267+11T>C (n.267+11T>C)
 gnomAD v4
Xg.132084480A>GCA2694717958FRMD7c.741+10T>C (n.741+10T>C)
c.381+10T>C (n.381+10T>C)
c.696+10T>C (n.696+10T>C)
c.693+10T>C (n.693+10T>C)
c.486+10T>C (n.486+10T>C)
c.267+10T>C (n.267+10T>C)
 gnomAD v4
Xg.132084481G>ACA2694717959FRMD7c.741+9C>T (n.741+9C>T)
c.381+9C>T (n.381+9C>T)
c.696+9C>T (n.696+9C>T)
c.693+9C>T (n.693+9C>T)
c.486+9C>T (n.486+9C>T)
c.267+9C>T (n.267+9C>T)
 gnomAD v4
Xg.132084481G>TCA2694717960FRMD7c.741+9C>A (n.741+9C>A)
c.381+9C>A (n.381+9C>A)
c.696+9C>A (n.696+9C>A)
c.693+9C>A (n.693+9C>A)
c.486+9C>A (n.486+9C>A)
c.267+9C>A (n.267+9C>A)
 gnomAD v4
Xg.132084482C>GCA2694717961FRMD7c.741+8G>C (n.741+8G>C)
c.381+8G>C (n.381+8G>C)
c.696+8G>C (n.696+8G>C)
c.693+8G>C (n.693+8G>C)
c.486+8G>C (n.486+8G>C)
c.267+8G>C (n.267+8G>C)
 gnomAD v4
Xg.132084482C>TCA2694717962FRMD7c.741+8G>A (n.741+8G>A)
c.381+8G>A (n.381+8G>A)
c.696+8G>A (n.696+8G>A)
c.693+8G>A (n.693+8G>A)
c.486+8G>A (n.486+8G>A)
c.267+8G>A (n.267+8G>A)
 gnomAD v4
Xg.132084483T>CCA2694717963FRMD7c.741+7A>G (n.741+7A>G)
c.381+7A>G (n.381+7A>G)
c.696+7A>G (n.696+7A>G)
c.693+7A>G (n.693+7A>G)
c.486+7A>G (n.486+7A>G)
c.267+7A>G (n.267+7A>G)
 gnomAD v4
Xg.132084484A=CA2458955370FRMD7c.741+6T= (n.741+6T=)
c.381+6T= (n.381+6T=)
c.696+6T= (n.696+6T=)
c.693+6T= (n.693+6T=)
c.486+6T= (n.486+6T=)
c.267+6T= (n.267+6T=)
Xg.132084484A>GCA2458955371FRMD7c.741+6T>C (n.741+6T>C)
c.381+6T>C (n.381+6T>C)
c.696+6T>C (n.696+6T>C)
c.693+6T>C (n.693+6T>C)
c.486+6T>C (n.486+6T>C)
c.267+6T>C (n.267+6T>C)
 ClinVar dbSNP gnomAD v4
Xg.132084484A>TCA2694717964FRMD7c.741+6T>A (n.741+6T>A)
c.381+6T>A (n.381+6T>A)
c.696+6T>A (n.696+6T>A)
c.693+6T>A (n.693+6T>A)
c.486+6T>A (n.486+6T>A)
c.267+6T>A (n.267+6T>A)
 gnomAD v4
Xg.132084485C>TCA2694717965FRMD7c.741+5G>A (n.741+5G>A)
c.381+5G>A (n.381+5G>A)
c.696+5G>A (n.696+5G>A)
c.693+5G>A (n.693+5G>A)
c.486+5G>A (n.486+5G>A)
c.267+5G>A (n.267+5G>A)
 gnomAD v4
Xg.132084486T>CCA644491962FRMD7c.741+4A>G (n.741+4A>G)
c.381+4A>G (n.381+4A>G)
c.696+4A>G (n.696+4A>G)
c.693+4A>G (n.693+4A>G)
c.486+4A>G (n.486+4A>G)
c.267+4A>G (n.267+4A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.132084486T=CA2458955372FRMD7c.741+4A= (n.741+4A=)
c.381+4A= (n.381+4A=)
c.696+4A= (n.696+4A=)
c.693+4A= (n.693+4A=)
c.486+4A= (n.486+4A=)
c.267+4A= (n.267+4A=)
Xg.132084488A>CCA414680690FRMD7c.741+2T>G (n.741+2T>G)
c.381+2T>G (n.381+2T>G)
c.696+2T>G (n.696+2T>G)
c.693+2T>G (n.693+2T>G)
c.486+2T>G (n.486+2T>G)
c.267+2T>G (n.267+2T>G)
Xg.132084488A>GCA414680691FRMD7c.741+2T>C (n.741+2T>C)
c.381+2T>C (n.381+2T>C)
c.696+2T>C (n.696+2T>C)
c.693+2T>C (n.693+2T>C)
c.486+2T>C (n.486+2T>C)
c.267+2T>C (n.267+2T>C)
 gnomAD v4
Xg.132084488A>TCA414680692FRMD7c.741+2T>A (n.741+2T>A)
c.381+2T>A (n.381+2T>A)
c.696+2T>A (n.696+2T>A)
c.693+2T>A (n.693+2T>A)
c.486+2T>A (n.486+2T>A)
c.267+2T>A (n.267+2T>A)
 gnomAD v4
Xg.132084488_132084489delCA2694717966FRMD7c.741+1_741+2del (n.741+1_741+2del)
c.381+1_381+2del (n.381+1_381+2del)
c.696+1_696+2del (n.696+1_696+2del)
c.693+1_693+2del (n.693+1_693+2del)
c.486+1_486+2del (n.486+1_486+2del)
c.267+1_267+2del (n.267+1_267+2del)
 gnomAD v4
Xg.132084489C>ACA414680693FRMD7c.741+1G>T (n.741+1G>T)
c.381+1G>T (n.381+1G>T)
c.696+1G>T (n.696+1G>T)
c.693+1G>T (n.693+1G>T)
c.486+1G>T (n.486+1G>T)
c.267+1G>T (n.267+1G>T)
Xg.132084489C>GCA414680694FRMD7c.741+1G>C (n.741+1G>C)
c.381+1G>C (n.381+1G>C)
c.696+1G>C (n.696+1G>C)
c.693+1G>C (n.693+1G>C)
c.486+1G>C (n.486+1G>C)
c.267+1G>C (n.267+1G>C)
Xg.132084489C>TCA414680695FRMD7c.741+1G>A (n.741+1G>A)
c.381+1G>A (n.381+1G>A)
c.696+1G>A (n.696+1G>A)
c.693+1G>A (n.693+1G>A)
c.486+1G>A (n.486+1G>A)
c.267+1G>A (n.267+1G>A)
 gnomAD v4
Xg.132084490C>ACA414680696FRMD7c.741G>T (p.Leu247Phe)
c.381G>T (p.Leu127Phe)
c.696G>T (p.Leu232Phe)
c.693G>T (p.Leu231Phe)
c.486G>T (p.Leu162Phe)
c.267G>T (p.Leu89Phe)
Xg.132084490C=CA2458955373FRMD7c.741G= (p.Leu247=)
c.381G= (p.Leu127=)
c.696G= (p.Leu232=)
c.693G= (p.Leu231=)
c.486G= (p.Leu162=)
c.267G= (p.Leu89=)
Xg.132084490C>GCA414680697FRMD7c.741G>C (p.Leu247Phe)
c.381G>C (p.Leu127Phe)
c.696G>C (p.Leu232Phe)
c.693G>C (p.Leu231Phe)
c.486G>C (p.Leu162Phe)
c.267G>C (p.Leu89Phe)
Xg.132084490C>TCA10518989FRMD7c.741G>A (p.Leu247=)
c.381G>A (p.Leu127=)
c.696G>A (p.Leu232=)
c.693G>A (p.Leu231=)
c.486G>A (p.Leu162=)
c.267G>A (p.Leu89=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.132084491A>CCA414680698FRMD7c.740T>G (p.Leu247Trp)
c.380T>G (p.Leu127Trp)
c.695T>G (p.Leu232Trp)
c.692T>G (p.Leu231Trp)
c.485T>G (p.Leu162Trp)
c.266T>G (p.Leu89Trp)
Xg.132084491A>GCA414680699FRMD7c.740T>C (p.Leu247Ser)
c.380T>C (p.Leu127Ser)
c.695T>C (p.Leu232Ser)
c.692T>C (p.Leu231Ser)
c.485T>C (p.Leu162Ser)
c.266T>C (p.Leu89Ser)
 gnomAD v4
Xg.132084491A>TCA414680700FRMD7c.740T>A (p.Leu247Ter)
c.380T>A (p.Leu127Ter)
c.695T>A (p.Leu232Ter)
c.692T>A (p.Leu231Ter)
c.485T>A (p.Leu162Ter)
c.266T>A (p.Leu89Ter)
 gnomAD v4
Xg.132084492A>CCA414680701FRMD7c.739T>G (p.Leu247Val)
c.379T>G (p.Leu127Val)
c.694T>G (p.Leu232Val)
c.691T>G (p.Leu231Val)
c.484T>G (p.Leu162Val)
c.265T>G (p.Leu89Val)
Xg.132084492A>GCA518612472FRMD7c.739T>C (p.Leu247=)
c.379T>C (p.Leu127=)
c.694T>C (p.Leu232=)
c.691T>C (p.Leu231=)
c.484T>C (p.Leu162=)
c.265T>C (p.Leu89=)
Xg.132084492A>TCA414680702FRMD7c.739T>A (p.Leu247Met)
c.379T>A (p.Leu127Met)
c.694T>A (p.Leu232Met)
c.691T>A (p.Leu231Met)
c.484T>A (p.Leu162Met)
c.265T>A (p.Leu89Met)
Xg.132084493G>ACA518612473FRMD7c.738C>T (p.Ile246=)
c.378C>T (p.Ile126=)
c.693C>T (p.Ile231=)
c.690C>T (p.Ile230=)
c.483C>T (p.Ile161=)
c.264C>T (p.Ile88=)
 gnomAD v4
Xg.132084493G>CCA414680703FRMD7c.738C>G (p.Ile246Met)
c.378C>G (p.Ile126Met)
c.693C>G (p.Ile231Met)
c.690C>G (p.Ile230Met)
c.483C>G (p.Ile161Met)
c.264C>G (p.Ile88Met)
Xg.132084493G=CA2458955374FRMD7c.738C= (p.Ile246=)
c.378C= (p.Ile126=)
c.693C= (p.Ile231=)
c.690C= (p.Ile230=)
c.483C= (p.Ile161=)
c.264C= (p.Ile88=)
Xg.132084493G>TCA10518990FRMD7c.738C>A (p.Ile246=)
c.378C>A (p.Ile126=)
c.693C>A (p.Ile231=)
c.690C>A (p.Ile230=)
c.483C>A (p.Ile161=)
c.264C>A (p.Ile88=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.132084494A>CCA414680704FRMD7c.737T>G (p.Ile246Ser)
c.377T>G (p.Ile126Ser)
c.692T>G (p.Ile231Ser)
c.689T>G (p.Ile230Ser)
c.482T>G (p.Ile161Ser)
c.263T>G (p.Ile88Ser)
Xg.132084494A>GCA414680705FRMD7c.737T>C (p.Ile246Thr)
c.377T>C (p.Ile126Thr)
c.692T>C (p.Ile231Thr)
c.689T>C (p.Ile230Thr)
c.482T>C (p.Ile161Thr)
c.263T>C (p.Ile88Thr)
 gnomAD v4
Xg.132084494A>TCA414680706FRMD7c.737T>A (p.Ile246Asn)
c.377T>A (p.Ile126Asn)
c.692T>A (p.Ile231Asn)
c.689T>A (p.Ile230Asn)
c.482T>A (p.Ile161Asn)
c.263T>A (p.Ile88Asn)
Xg.132084495T>ACA414680707FRMD7c.736A>T (p.Ile246Phe)
c.376A>T (p.Ile126Phe)
c.691A>T (p.Ile231Phe)
c.688A>T (p.Ile230Phe)
c.481A>T (p.Ile161Phe)
c.262A>T (p.Ile88Phe)
Xg.132084495T>CCA414680708FRMD7c.736A>G (p.Ile246Val)
c.376A>G (p.Ile126Val)
c.691A>G (p.Ile231Val)
c.688A>G (p.Ile230Val)
c.481A>G (p.Ile161Val)
c.262A>G (p.Ile88Val)
 gnomAD v4
Xg.132084495T>GCA414680709FRMD7c.736A>C (p.Ile246Leu)
c.376A>C (p.Ile126Leu)
c.691A>C (p.Ile231Leu)
c.688A>C (p.Ile230Leu)
c.481A>C (p.Ile161Leu)
c.262A>C (p.Ile88Leu)
Xg.132084496A>CCA414680710FRMD7c.735T>G (p.Asn245Lys)
c.375T>G (p.Asn125Lys)
c.690T>G (p.Asn230Lys)
c.687T>G (p.Asn229Lys)
c.480T>G (p.Asn160Lys)
c.261T>G (p.Asn87Lys)
Xg.132084496A>GCA518612474FRMD7c.735T>C (p.Asn245=)
c.375T>C (p.Asn125=)
c.690T>C (p.Asn230=)
c.687T>C (p.Asn229=)
c.480T>C (p.Asn160=)
c.261T>C (p.Asn87=)
 gnomAD v4
Xg.132084496A>TCA414680711FRMD7c.735T>A (p.Asn245Lys)
c.375T>A (p.Asn125Lys)
c.690T>A (p.Asn230Lys)
c.687T>A (p.Asn229Lys)
c.480T>A (p.Asn160Lys)
c.261T>A (p.Asn87Lys)
Xg.132084497T>ACA414680712FRMD7c.734A>T (p.Asn245Ile)
c.374A>T (p.Asn125Ile)
c.689A>T (p.Asn230Ile)
c.686A>T (p.Asn229Ile)
c.479A>T (p.Asn160Ile)
c.260A>T (p.Asn87Ile)
Xg.132084497T>CCA414680713FRMD7c.734A>G (p.Asn245Ser)
c.374A>G (p.Asn125Ser)
c.689A>G (p.Asn230Ser)
c.686A>G (p.Asn229Ser)
c.479A>G (p.Asn160Ser)
c.260A>G (p.Asn87Ser)
 gnomAD v4
Xg.132084497T>GCA414680714FRMD7c.734A>C (p.Asn245Thr)
c.374A>C (p.Asn125Thr)
c.689A>C (p.Asn230Thr)
c.686A>C (p.Asn229Thr)
c.479A>C (p.Asn160Thr)
c.260A>C (p.Asn87Thr)
Xg.132084498T>ACA414680715FRMD7c.733A>T (p.Asn245Tyr)
c.373A>T (p.Asn125Tyr)
c.688A>T (p.Asn230Tyr)
c.685A>T (p.Asn229Tyr)
c.478A>T (p.Asn160Tyr)
c.259A>T (p.Asn87Tyr)
Xg.132084498T>CCA414680716FRMD7c.733A>G (p.Asn245Asp)
c.373A>G (p.Asn125Asp)
c.688A>G (p.Asn230Asp)
c.685A>G (p.Asn229Asp)
c.478A>G (p.Asn160Asp)
c.259A>G (p.Asn87Asp)
 gnomAD v4
Xg.132084498T>GCA414680717FRMD7c.733A>C (p.Asn245His)
c.373A>C (p.Asn125His)
c.688A>C (p.Asn230His)
c.685A>C (p.Asn229His)
c.478A>C (p.Asn160His)
c.259A>C (p.Asn87His)
Xg.132084499G>ACA335857920FRMD7c.732C>T (p.Ala244=)
c.372C>T (p.Ala124=)
c.687C>T (p.Ala229=)
c.684C>T (p.Ala228=)
c.477C>T (p.Ala159=)
c.258C>T (p.Ala86=)
 dbSNP gnomAD v4
Xg.132084499G>CCA518612475FRMD7c.732C>G (p.Ala244=)
c.372C>G (p.Ala124=)
c.687C>G (p.Ala229=)
c.684C>G (p.Ala228=)
c.477C>G (p.Ala159=)
c.258C>G (p.Ala86=)
Xg.132084499G=CA2458955375FRMD7c.732C= (p.Ala244=)
c.372C= (p.Ala124=)
c.687C= (p.Ala229=)
c.684C= (p.Ala228=)
c.477C= (p.Ala159=)
c.258C= (p.Ala86=)
Xg.132084499G>TCA518612476FRMD7c.732C>A (p.Ala244=)
c.372C>A (p.Ala124=)
c.687C>A (p.Ala229=)
c.684C>A (p.Ala228=)
c.477C>A (p.Ala159=)
c.258C>A (p.Ala86=)
 gnomAD v4
Xg.132084500delCA2579704089FRMD7c.732del (p.Asn245IlefsTer?)
c.372del (p.Asn125IlefsTer?)
c.687del (p.Asn230IlefsTer?)
c.684del (p.Asn229IlefsTer?)
c.477del (p.Asn160IlefsTer?)
c.258del (p.Asn87IlefsTer?)
Xg.132084500G>ACA414680718FRMD7c.731C>T (p.Ala244Val)
c.371C>T (p.Ala124Val)
c.686C>T (p.Ala229Val)
c.683C>T (p.Ala228Val)
c.476C>T (p.Ala159Val)
c.257C>T (p.Ala86Val)
 gnomAD v4
Xg.132084500G>CCA414680719FRMD7c.731C>G (p.Ala244Gly)
c.371C>G (p.Ala124Gly)
c.686C>G (p.Ala229Gly)
c.683C>G (p.Ala228Gly)
c.476C>G (p.Ala159Gly)
c.257C>G (p.Ala86Gly)
 gnomAD v4
Xg.132084500G>TCA414680720FRMD7c.731C>A (p.Ala244Asp)
c.371C>A (p.Ala124Asp)
c.686C>A (p.Ala229Asp)
c.683C>A (p.Ala228Asp)
c.476C>A (p.Ala159Asp)
c.257C>A (p.Ala86Asp)
 gnomAD v4
Xg.132084501C>ACA414680721FRMD7c.730G>T (p.Ala244Ser)
c.370G>T (p.Ala124Ser)
c.685G>T (p.Ala229Ser)
c.682G>T (p.Ala228Ser)
c.475G>T (p.Ala159Ser)
c.256G>T (p.Ala86Ser)
Xg.132084501C>GCA414680723FRMD7c.730G>C (p.Ala244Pro)
c.370G>C (p.Ala124Pro)
c.685G>C (p.Ala229Pro)
c.682G>C (p.Ala228Pro)
c.475G>C (p.Ala159Pro)
c.256G>C (p.Ala86Pro)
Xg.132084501C>TCA414680724FRMD7c.730G>A (p.Ala244Thr)
c.370G>A (p.Ala124Thr)
c.685G>A (p.Ala229Thr)
c.682G>A (p.Ala228Thr)
c.475G>A (p.Ala159Thr)
c.256G>A (p.Ala86Thr)
Xg.132084502A>CCA414680726FRMD7c.729T>G (p.His243Gln)
c.369T>G (p.His123Gln)
c.684T>G (p.His228Gln)
c.681T>G (p.His227Gln)
c.474T>G (p.His158Gln)
c.255T>G (p.His85Gln)
Xg.132084502A>GCA518612477FRMD7c.729T>C (p.His243=)
c.369T>C (p.His123=)
c.684T>C (p.His228=)
c.681T>C (p.His227=)
c.474T>C (p.His158=)
c.255T>C (p.His85=)
 gnomAD v4
Xg.132084502A>TCA414680725FRMD7c.729T>A (p.His243Gln)
c.369T>A (p.His123Gln)
c.684T>A (p.His228Gln)
c.681T>A (p.His227Gln)
c.474T>A (p.His158Gln)
c.255T>A (p.His85Gln)
Xg.132084503T>ACA414680727FRMD7c.728A>T (p.His243Leu)
c.368A>T (p.His123Leu)
c.683A>T (p.His228Leu)
c.680A>T (p.His227Leu)
c.473A>T (p.His158Leu)
c.254A>T (p.His85Leu)
Xg.132084503T>CCA414680728FRMD7c.728A>G (p.His243Arg)
c.368A>G (p.His123Arg)
c.683A>G (p.His228Arg)
c.680A>G (p.His227Arg)
c.473A>G (p.His158Arg)
c.254A>G (p.His85Arg)
 gnomAD v4
Xg.132084503T>GCA414680729FRMD7c.728A>C (p.His243Pro)
c.368A>C (p.His123Pro)
c.683A>C (p.His228Pro)
c.680A>C (p.His227Pro)
c.473A>C (p.His158Pro)
c.254A>C (p.His85Pro)
Xg.132084504G>ACA414680730FRMD7c.727C>T (p.His243Tyr)
c.367C>T (p.His123Tyr)
c.682C>T (p.His228Tyr)
c.679C>T (p.His227Tyr)
c.472C>T (p.His158Tyr)
c.253C>T (p.His85Tyr)
 gnomAD v4
Xg.132084504G>CCA414680731FRMD7c.727C>G (p.His243Asp)
c.367C>G (p.His123Asp)
c.682C>G (p.His228Asp)
c.679C>G (p.His227Asp)
c.472C>G (p.His158Asp)
c.253C>G (p.His85Asp)
Xg.132084504G>TCA414680732FRMD7c.727C>A (p.His243Asn)
c.367C>A (p.His123Asn)
c.682C>A (p.His228Asn)
c.679C>A (p.His227Asn)
c.472C>A (p.His158Asn)
c.253C>A (p.His85Asn)
 gnomAD v4
Xg.132084505A=CA2458955376FRMD7c.726T= (p.Leu242=)
c.366T= (p.Leu122=)
c.681T= (p.Leu227=)
c.678T= (p.Leu226=)
c.471T= (p.Leu157=)
c.252T= (p.Leu84=)
Xg.132084505A>CCA518612478FRMD7c.726T>G (p.Leu242=)
c.366T>G (p.Leu122=)
c.681T>G (p.Leu227=)
c.678T>G (p.Leu226=)
c.471T>G (p.Leu157=)
c.252T>G (p.Leu84=)
 dbSNP
Xg.132084505A>GCA518612479FRMD7c.726T>C (p.Leu242=)
c.366T>C (p.Leu122=)
c.681T>C (p.Leu227=)
c.678T>C (p.Leu226=)
c.471T>C (p.Leu157=)
c.252T>C (p.Leu84=)
 gnomAD v4
Xg.132084505A>TCA518612480FRMD7c.726T>A (p.Leu242=)
c.366T>A (p.Leu122=)
c.681T>A (p.Leu227=)
c.678T>A (p.Leu226=)
c.471T>A (p.Leu157=)
c.252T>A (p.Leu84=)
Xg.132084506A>CCA414680735FRMD7c.725T>G (p.Leu242Arg)
c.365T>G (p.Leu122Arg)
c.680T>G (p.Leu227Arg)
c.677T>G (p.Leu226Arg)
c.470T>G (p.Leu157Arg)
c.251T>G (p.Leu84Arg)
Xg.132084506A>GCA414680733FRMD7c.725T>C (p.Leu242Pro)
c.365T>C (p.Leu122Pro)
c.680T>C (p.Leu227Pro)
c.677T>C (p.Leu226Pro)
c.470T>C (p.Leu157Pro)
c.251T>C (p.Leu84Pro)
 gnomAD v4
Xg.132084506A>TCA414680734FRMD7c.725T>A (p.Leu242His)
c.365T>A (p.Leu122His)
c.680T>A (p.Leu227His)
c.677T>A (p.Leu226His)
c.470T>A (p.Leu157His)
c.251T>A (p.Leu84His)
 ClinVar dbSNP
Xg.132084507G>ACA10518991FRMD7c.724C>T (p.Leu242Phe)
c.364C>T (p.Leu122Phe)
c.679C>T (p.Leu227Phe)
c.676C>T (p.Leu226Phe)
c.469C>T (p.Leu157Phe)
c.250C>T (p.Leu84Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084507G>CCA414680736FRMD7c.724C>G (p.Leu242Val)
c.364C>G (p.Leu122Val)
c.679C>G (p.Leu227Val)
c.676C>G (p.Leu226Val)
c.469C>G (p.Leu157Val)
c.250C>G (p.Leu84Val)
Xg.132084507G=CA2458955377FRMD7c.724C= (p.Leu242=)
c.364C= (p.Leu122=)
c.679C= (p.Leu227=)
c.676C= (p.Leu226=)
c.469C= (p.Leu157=)
c.250C= (p.Leu84=)
Xg.132084507G>TCA414680737FRMD7c.724C>A (p.Leu242Ile)
c.364C>A (p.Leu122Ile)
c.679C>A (p.Leu227Ile)
c.676C>A (p.Leu226Ile)
c.469C>A (p.Leu157Ile)
c.250C>A (p.Leu84Ile)
 gnomAD v4
Xg.132084508T>ACA414680738FRMD7c.723A>T (p.Lys241Asn)
c.363A>T (p.Lys121Asn)
c.678A>T (p.Lys226Asn)
c.675A>T (p.Lys225Asn)
c.468A>T (p.Lys156Asn)
c.249A>T (p.Lys83Asn)
Xg.132084508T>CCA518612481FRMD7c.723A>G (p.Lys241=)
c.363A>G (p.Lys121=)
c.678A>G (p.Lys226=)
c.675A>G (p.Lys225=)
c.468A>G (p.Lys156=)
c.249A>G (p.Lys83=)
 gnomAD v4
Xg.132084508T>GCA414680739FRMD7c.723A>C (p.Lys241Asn)
c.363A>C (p.Lys121Asn)
c.678A>C (p.Lys226Asn)
c.675A>C (p.Lys225Asn)
c.468A>C (p.Lys156Asn)
c.249A>C (p.Lys83Asn)
Xg.132084509T>ACA414680742FRMD7c.722A>T (p.Lys241Ile)
c.362A>T (p.Lys121Ile)
c.677A>T (p.Lys226Ile)
c.674A>T (p.Lys225Ile)
c.467A>T (p.Lys156Ile)
c.248A>T (p.Lys83Ile)
Xg.132084509T>CCA414680740FRMD7c.722A>G (p.Lys241Arg)
c.362A>G (p.Lys121Arg)
c.677A>G (p.Lys226Arg)
c.674A>G (p.Lys225Arg)
c.467A>G (p.Lys156Arg)
c.248A>G (p.Lys83Arg)
 dbSNP gnomAD v4
Xg.132084509T>GCA414680741FRMD7c.722A>C (p.Lys241Thr)
c.362A>C (p.Lys121Thr)
c.677A>C (p.Lys226Thr)
c.674A>C (p.Lys225Thr)
c.467A>C (p.Lys156Thr)
c.248A>C (p.Lys83Thr)
Xg.132084509T=CA2458955378FRMD7c.722A= (p.Lys241=)
c.362A= (p.Lys121=)
c.677A= (p.Lys226=)
c.674A= (p.Lys225=)
c.467A= (p.Lys156=)
c.248A= (p.Lys83=)
Xg.132084510T>ACA414680743FRMD7c.721A>T (p.Lys241Ter)
c.361A>T (p.Lys121Ter)
c.676A>T (p.Lys226Ter)
c.673A>T (p.Lys225Ter)
c.466A>T (p.Lys156Ter)
c.247A>T (p.Lys83Ter)
Xg.132084510T>CCA414680744FRMD7c.721A>G (p.Lys241Glu)
c.361A>G (p.Lys121Glu)
c.676A>G (p.Lys226Glu)
c.673A>G (p.Lys225Glu)
c.466A>G (p.Lys156Glu)
c.247A>G (p.Lys83Glu)
 gnomAD v4
Xg.132084510T>GCA414680745FRMD7c.721A>C (p.Lys241Gln)
c.361A>C (p.Lys121Gln)
c.676A>C (p.Lys226Gln)
c.673A>C (p.Lys225Gln)
c.466A>C (p.Lys156Gln)
c.247A>C (p.Lys83Gln)
Xg.132084511G>ACA518612482FRMD7c.720C>T (p.Ile240=)
c.360C>T (p.Ile120=)
c.675C>T (p.Ile225=)
c.672C>T (p.Ile224=)
c.465C>T (p.Ile155=)
c.246C>T (p.Ile82=)
Xg.132084511G>CCA414680746FRMD7c.720C>G (p.Ile240Met)
c.360C>G (p.Ile120Met)
c.675C>G (p.Ile225Met)
c.672C>G (p.Ile224Met)
c.465C>G (p.Ile155Met)
c.246C>G (p.Ile82Met)
Xg.132084511G>TCA518612483FRMD7c.720C>A (p.Ile240=)
c.360C>A (p.Ile120=)
c.675C>A (p.Ile225=)
c.672C>A (p.Ile224=)
c.465C>A (p.Ile155=)
c.246C>A (p.Ile82=)
 gnomAD v4
Xg.132084512A>CCA414680747FRMD7c.719T>G (p.Ile240Ser)
c.359T>G (p.Ile120Ser)
c.674T>G (p.Ile225Ser)
c.671T>G (p.Ile224Ser)
c.464T>G (p.Ile155Ser)
c.245T>G (p.Ile82Ser)
 ClinVar
Xg.132084512A>GCA414680748FRMD7c.719T>C (p.Ile240Thr)
c.359T>C (p.Ile120Thr)
c.674T>C (p.Ile225Thr)
c.671T>C (p.Ile224Thr)
c.464T>C (p.Ile155Thr)
c.245T>C (p.Ile82Thr)
 gnomAD v4
Xg.132084512A>TCA414680749FRMD7c.719T>A (p.Ile240Asn)
c.359T>A (p.Ile120Asn)
c.674T>A (p.Ile225Asn)
c.671T>A (p.Ile224Asn)
c.464T>A (p.Ile155Asn)
c.245T>A (p.Ile82Asn)
Xg.132084513T>ACA414680750FRMD7c.718A>T (p.Ile240Phe)
c.358A>T (p.Ile120Phe)
c.673A>T (p.Ile225Phe)
c.670A>T (p.Ile224Phe)
c.463A>T (p.Ile155Phe)
c.244A>T (p.Ile82Phe)
Xg.132084513T>CCA10518992FRMD7c.718A>G (p.Ile240Val)
c.358A>G (p.Ile120Val)
c.673A>G (p.Ile225Val)
c.670A>G (p.Ile224Val)
c.463A>G (p.Ile155Val)
c.244A>G (p.Ile82Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.132084513T>GCA414680751FRMD7c.718A>C (p.Ile240Leu)
c.358A>C (p.Ile120Leu)
c.673A>C (p.Ile225Leu)
c.670A>C (p.Ile224Leu)
c.463A>C (p.Ile155Leu)
c.244A>C (p.Ile82Leu)
Xg.132084513T=CA2458955379FRMD7c.718A= (p.Ile240=)
c.358A= (p.Ile120=)
c.673A= (p.Ile225=)
c.670A= (p.Ile224=)
c.463A= (p.Ile155=)
c.244A= (p.Ile82=)
Xg.132084514G>ACA518612484FRMD7c.717C>T (p.Leu239=)
c.357C>T (p.Leu119=)
c.672C>T (p.Leu224=)
c.669C>T (p.Leu223=)
c.462C>T (p.Leu154=)
c.243C>T (p.Leu81=)
 gnomAD v4
Xg.132084514G>CCA518612485FRMD7c.717C>G (p.Leu239=)
c.357C>G (p.Leu119=)
c.672C>G (p.Leu224=)
c.669C>G (p.Leu223=)
c.462C>G (p.Leu154=)
c.243C>G (p.Leu81=)
Xg.132084514G>TCA518612486FRMD7c.717C>A (p.Leu239=)
c.357C>A (p.Leu119=)
c.672C>A (p.Leu224=)
c.669C>A (p.Leu223=)
c.462C>A (p.Leu154=)
c.243C>A (p.Leu81=)
 gnomAD v4
Xg.132084515A>CCA414680752FRMD7c.716T>G (p.Leu239Arg)
c.356T>G (p.Leu119Arg)
c.671T>G (p.Leu224Arg)
c.668T>G (p.Leu223Arg)
c.461T>G (p.Leu154Arg)
c.242T>G (p.Leu81Arg)
Xg.132084515A>GCA414680753FRMD7c.716T>C (p.Leu239Pro)
c.356T>C (p.Leu119Pro)
c.671T>C (p.Leu224Pro)
c.668T>C (p.Leu223Pro)
c.461T>C (p.Leu154Pro)
c.242T>C (p.Leu81Pro)
 gnomAD v4
Xg.132084515A>TCA414680754FRMD7c.716T>A (p.Leu239His)
c.356T>A (p.Leu119His)
c.671T>A (p.Leu224His)
c.668T>A (p.Leu223His)
c.461T>A (p.Leu154His)
c.242T>A (p.Leu81His)
Xg.132084516G>ACA414680755FRMD7c.715C>T (p.Leu239Phe)
c.355C>T (p.Leu119Phe)
c.670C>T (p.Leu224Phe)
c.667C>T (p.Leu223Phe)
c.460C>T (p.Leu154Phe)
c.241C>T (p.Leu81Phe)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.132084516G>CCA414680757FRMD7c.715C>G (p.Leu239Val)
c.355C>G (p.Leu119Val)
c.670C>G (p.Leu224Val)
c.667C>G (p.Leu223Val)
c.460C>G (p.Leu154Val)
c.241C>G (p.Leu81Val)
Xg.132084516G=CA2458955380FRMD7c.715C= (p.Leu239=)
c.355C= (p.Leu119=)
c.670C= (p.Leu224=)
c.667C= (p.Leu223=)
c.460C= (p.Leu154=)
c.241C= (p.Leu81=)
Xg.132084516G>TCA414680756FRMD7c.715C>A (p.Leu239Ile)
c.355C>A (p.Leu119Ile)
c.670C>A (p.Leu224Ile)
c.667C>A (p.Leu223Ile)
c.460C>A (p.Leu154Ile)
c.241C>A (p.Leu81Ile)
 gnomAD v4
Xg.132084517A>CCA414680758FRMD7c.714T>G (p.Phe238Leu)
c.354T>G (p.Phe118Leu)
c.669T>G (p.Phe223Leu)
c.666T>G (p.Phe222Leu)
c.459T>G (p.Phe153Leu)
c.240T>G (p.Phe80Leu)
Xg.132084517A>GCA518612487FRMD7c.714T>C (p.Phe238=)
c.354T>C (p.Phe118=)
c.669T>C (p.Phe223=)
c.666T>C (p.Phe222=)
c.459T>C (p.Phe153=)
c.240T>C (p.Phe80=)
Xg.132084517A>TCA414680759FRMD7c.714T>A (p.Phe238Leu)
c.354T>A (p.Phe118Leu)
c.669T>A (p.Phe223Leu)
c.666T>A (p.Phe222Leu)
c.459T>A (p.Phe153Leu)
c.240T>A (p.Phe80Leu)
Xg.132084520dupCA2694717967FRMD7c.714dup (p.Leu239SerfsTer?)
c.354dup (p.Leu119SerfsTer?)
c.669dup (p.Leu224SerfsTer?)
c.666dup (p.Leu223SerfsTer?)
c.459dup (p.Leu154SerfsTer?)
c.240dup (p.Leu81SerfsTer?)
 gnomAD v4
Xg.132084518A>CCA414680760FRMD7c.713T>G (p.Phe238Cys)
c.353T>G (p.Phe118Cys)
c.668T>G (p.Phe223Cys)
c.665T>G (p.Phe222Cys)
c.458T>G (p.Phe153Cys)
c.239T>G (p.Phe80Cys)
Xg.132084518A>GCA414680761FRMD7c.713T>C (p.Phe238Ser)
c.353T>C (p.Phe118Ser)
c.668T>C (p.Phe223Ser)
c.665T>C (p.Phe222Ser)
c.458T>C (p.Phe153Ser)
c.239T>C (p.Phe80Ser)
 gnomAD v4
Xg.132084518A>TCA414680762FRMD7c.713T>A (p.Phe238Tyr)
c.353T>A (p.Phe118Tyr)
c.668T>A (p.Phe223Tyr)
c.665T>A (p.Phe222Tyr)
c.458T>A (p.Phe153Tyr)
c.239T>A (p.Phe80Tyr)
Xg.132084519A>CCA414680763FRMD7c.712T>G (p.Phe238Val)
c.352T>G (p.Phe118Val)
c.667T>G (p.Phe223Val)
c.664T>G (p.Phe222Val)
c.457T>G (p.Phe153Val)
c.238T>G (p.Phe80Val)
Xg.132084519A>GCA414680764FRMD7c.712T>C (p.Phe238Leu)
c.352T>C (p.Phe118Leu)
c.667T>C (p.Phe223Leu)
c.664T>C (p.Phe222Leu)
c.457T>C (p.Phe153Leu)
c.238T>C (p.Phe80Leu)
Xg.132084519A>TCA414680765FRMD7c.712T>A (p.Phe238Ile)
c.352T>A (p.Phe118Ile)
c.667T>A (p.Phe223Ile)
c.664T>A (p.Phe222Ile)
c.457T>A (p.Phe153Ile)
c.238T>A (p.Phe80Ile)
Xg.132084520A>CCA414680766FRMD7c.711T>G (p.His237Gln)
c.351T>G (p.His117Gln)
c.666T>G (p.His222Gln)
c.663T>G (p.His221Gln)
c.456T>G (p.His152Gln)
c.237T>G (p.His79Gln)
Xg.132084520A>GCA518612488FRMD7c.711T>C (p.His237=)
c.351T>C (p.His117=)
c.666T>C (p.His222=)
c.663T>C (p.His221=)
c.456T>C (p.His152=)
c.237T>C (p.His79=)
Xg.132084520A>TCA414680767FRMD7c.711T>A (p.His237Gln)
c.351T>A (p.His117Gln)
c.666T>A (p.His222Gln)
c.663T>A (p.His221Gln)
c.456T>A (p.His152Gln)
c.237T>A (p.His79Gln)
Xg.132084521T>ACA414680768FRMD7c.710A>T (p.His237Leu)
c.350A>T (p.His117Leu)
c.665A>T (p.His222Leu)
c.662A>T (p.His221Leu)
c.455A>T (p.His152Leu)
c.236A>T (p.His79Leu)
Xg.132084521T>CCA414680769FRMD7c.710A>G (p.His237Arg)
c.350A>G (p.His117Arg)
c.665A>G (p.His222Arg)
c.662A>G (p.His221Arg)
c.455A>G (p.His152Arg)
c.236A>G (p.His79Arg)
 ClinVar
Xg.132084521T>GCA414680770FRMD7c.710A>C (p.His237Pro)
c.350A>C (p.His117Pro)
c.665A>C (p.His222Pro)
c.662A>C (p.His221Pro)
c.455A>C (p.His152Pro)
c.236A>C (p.His79Pro)
Xg.132084522G>ACA414680771FRMD7c.709C>T (p.His237Tyr)
c.349C>T (p.His117Tyr)
c.664C>T (p.His222Tyr)
c.661C>T (p.His221Tyr)
c.454C>T (p.His152Tyr)
c.235C>T (p.His79Tyr)
 ClinVar gnomAD v4
Xg.132084522G>CCA414680773FRMD7c.709C>G (p.His237Asp)
c.349C>G (p.His117Asp)
c.664C>G (p.His222Asp)
c.661C>G (p.His221Asp)
c.454C>G (p.His152Asp)
c.235C>G (p.His79Asp)
 gnomAD v4
Xg.132084522G>TCA414680772FRMD7c.709C>A (p.His237Asn)
c.349C>A (p.His117Asn)
c.664C>A (p.His222Asn)
c.661C>A (p.His221Asn)
c.454C>A (p.His152Asn)
c.235C>A (p.His79Asn)
 gnomAD v4
Xg.132084523C>ACA414680774FRMD7c.708G>T (p.Lys236Asn)
c.348G>T (p.Lys116Asn)
c.663G>T (p.Lys221Asn)
c.660G>T (p.Lys220Asn)
c.453G>T (p.Lys151Asn)
c.234G>T (p.Lys78Asn)
Xg.132084523C=CA2458955381FRMD7c.708G= (p.Lys236=)
c.348G= (p.Lys116=)
c.663G= (p.Lys221=)
c.660G= (p.Lys220=)
c.453G= (p.Lys151=)
c.234G= (p.Lys78=)
Xg.132084523C>GCA414680775FRMD7c.708G>C (p.Lys236Asn)
c.348G>C (p.Lys116Asn)
c.663G>C (p.Lys221Asn)
c.660G>C (p.Lys220Asn)
c.453G>C (p.Lys151Asn)
c.234G>C (p.Lys78Asn)
Xg.132084523C>TCA10518993FRMD7c.708G>A (p.Lys236=)
c.348G>A (p.Lys116=)
c.663G>A (p.Lys221=)
c.660G>A (p.Lys220=)
c.453G>A (p.Lys151=)
c.234G>A (p.Lys78=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.132084524T>ACA414680776FRMD7c.707A>T (p.Lys236Met)
c.347A>T (p.Lys116Met)
c.662A>T (p.Lys221Met)
c.659A>T (p.Lys220Met)
c.452A>T (p.Lys151Met)
c.233A>T (p.Lys78Met)
Xg.132084524T>CCA414680777FRMD7c.707A>G (p.Lys236Arg)
c.347A>G (p.Lys116Arg)
c.662A>G (p.Lys221Arg)
c.659A>G (p.Lys220Arg)
c.452A>G (p.Lys151Arg)
c.233A>G (p.Lys78Arg)
 gnomAD v4
Xg.132084524T>GCA414680778FRMD7c.707A>C (p.Lys236Thr)
c.347A>C (p.Lys116Thr)
c.662A>C (p.Lys221Thr)
c.659A>C (p.Lys220Thr)
c.452A>C (p.Lys151Thr)
c.233A>C (p.Lys78Thr)
Xg.132084525_132084526delCA2499226367FRMD7c.706_707del (p.Lys236AlafsTer?)
c.346_347del (p.Lys116AlafsTer?)
c.661_662del (p.Lys221AlafsTer?)
c.658_659del (p.Lys220AlafsTer?)
c.451_452del (p.Lys151AlafsTer?)
c.232_233del (p.Lys78AlafsTer?)
 ClinVar dbSNP
Xg.132084525T>ACA414680779FRMD7c.706A>T (p.Lys236Ter)
c.346A>T (p.Lys116Ter)
c.661A>T (p.Lys221Ter)
c.658A>T (p.Lys220Ter)
c.451A>T (p.Lys151Ter)
c.232A>T (p.Lys78Ter)
Xg.132084525T>CCA414680780FRMD7c.706A>G (p.Lys236Glu)
c.346A>G (p.Lys116Glu)
c.661A>G (p.Lys221Glu)
c.658A>G (p.Lys220Glu)
c.451A>G (p.Lys151Glu)
c.232A>G (p.Lys78Glu)
 gnomAD v4
Xg.132084525T>GCA414680781FRMD7c.706A>C (p.Lys236Gln)
c.346A>C (p.Lys116Gln)
c.661A>C (p.Lys221Gln)
c.658A>C (p.Lys220Gln)
c.451A>C (p.Lys151Gln)
c.232A>C (p.Lys78Gln)
 gnomAD v4
Xg.132084526T>ACA414680782FRMD7c.705A>T (p.Arg235Ser)
c.345A>T (p.Arg115Ser)
c.660A>T (p.Arg220Ser)
c.657A>T (p.Arg219Ser)
c.450A>T (p.Arg150Ser)
c.231A>T (p.Arg77Ser)
Xg.132084526T>CCA518612489FRMD7c.705A>G (p.Arg235=)
c.345A>G (p.Arg115=)
c.660A>G (p.Arg220=)
c.657A>G (p.Arg219=)
c.450A>G (p.Arg150=)
c.231A>G (p.Arg77=)
 gnomAD v4
Xg.132084526T>GCA414680783FRMD7c.705A>C (p.Arg235Ser)
c.345A>C (p.Arg115Ser)
c.660A>C (p.Arg220Ser)
c.657A>C (p.Arg219Ser)
c.450A>C (p.Arg150Ser)
c.231A>C (p.Arg77Ser)
Xg.132084527C>ACA10518994FRMD7c.704G>T (p.Arg235Ile)
c.344G>T (p.Arg115Ile)
c.659G>T (p.Arg220Ile)
c.656G>T (p.Arg219Ile)
c.449G>T (p.Arg150Ile)
c.230G>T (p.Arg77Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.132084527C=CA2458955382FRMD7c.704G= (p.Arg235=)
c.344G= (p.Arg115=)
c.659G= (p.Arg220=)
c.656G= (p.Arg219=)
c.449G= (p.Arg150=)
c.230G= (p.Arg77=)
Xg.132084527C>GCA414680785FRMD7c.704G>C (p.Arg235Thr)
c.344G>C (p.Arg115Thr)
c.659G>C (p.Arg220Thr)
c.656G>C (p.Arg219Thr)
c.449G>C (p.Arg150Thr)
c.230G>C (p.Arg77Thr)
Xg.132084527C>TCA414680784FRMD7c.704G>A (p.Arg235Lys)
c.344G>A (p.Arg115Lys)
c.659G>A (p.Arg220Lys)
c.656G>A (p.Arg219Lys)
c.449G>A (p.Arg150Lys)
c.230G>A (p.Arg77Lys)
 gnomAD v4
Xg.132084528T>ACA414680787FRMD7c.703A>T (p.Arg235Ter)
c.343A>T (p.Arg115Ter)
c.658A>T (p.Arg220Ter)
c.655A>T (p.Arg219Ter)
c.448A>T (p.Arg150Ter)
c.229A>T (p.Arg77Ter)
Xg.132084528T>CCA414680786FRMD7c.703A>G (p.Arg235Gly)
c.343A>G (p.Arg115Gly)
c.658A>G (p.Arg220Gly)
c.655A>G (p.Arg219Gly)
c.448A>G (p.Arg150Gly)
c.229A>G (p.Arg77Gly)
Xg.132084528T>GCA518612490FRMD7c.703A>C (p.Arg235=)
c.343A>C (p.Arg115=)
c.658A>C (p.Arg220=)
c.655A>C (p.Arg219=)
c.448A>C (p.Arg150=)
c.229A>C (p.Arg77=)
Xg.132084529C>ACA414680788FRMD7c.702G>T (p.Lys234Asn)
c.342G>T (p.Lys114Asn)
c.657G>T (p.Lys219Asn)
c.654G>T (p.Lys218Asn)
c.447G>T (p.Lys149Asn)
c.228G>T (p.Lys76Asn)
Xg.132084529C>GCA414680789FRMD7c.702G>C (p.Lys234Asn)
c.342G>C (p.Lys114Asn)
c.657G>C (p.Lys219Asn)
c.654G>C (p.Lys218Asn)
c.447G>C (p.Lys149Asn)
c.228G>C (p.Lys76Asn)
Xg.132084529C>TCA518612491FRMD7c.702G>A (p.Lys234=)
c.342G>A (p.Lys114=)
c.657G>A (p.Lys219=)
c.654G>A (p.Lys218=)
c.447G>A (p.Lys149=)
c.228G>A (p.Lys76=)
 gnomAD v4
Xg.132084530T>ACA414680790FRMD7c.701A>T (p.Lys234Met)
c.341A>T (p.Lys114Met)
c.656A>T (p.Lys219Met)
c.653A>T (p.Lys218Met)
c.446A>T (p.Lys149Met)
c.227A>T (p.Lys76Met)
Xg.132084530T>CCA414680791FRMD7c.701A>G (p.Lys234Arg)
c.341A>G (p.Lys114Arg)
c.656A>G (p.Lys219Arg)
c.653A>G (p.Lys218Arg)
c.446A>G (p.Lys149Arg)
c.227A>G (p.Lys76Arg)
Xg.132084530T>GCA414680792FRMD7c.701A>C (p.Lys234Thr)
c.341A>C (p.Lys114Thr)
c.656A>C (p.Lys219Thr)
c.653A>C (p.Lys218Thr)
c.446A>C (p.Lys149Thr)
c.227A>C (p.Lys76Thr)
Xg.132084531T>ACA414680793FRMD7c.700A>T (p.Lys234Ter)
c.340A>T (p.Lys114Ter)
c.655A>T (p.Lys219Ter)
c.652A>T (p.Lys218Ter)
c.445A>T (p.Lys149Ter)
c.226A>T (p.Lys76Ter)
Xg.132084531T>CCA414680794FRMD7c.700A>G (p.Lys234Glu)
c.340A>G (p.Lys114Glu)
c.655A>G (p.Lys219Glu)
c.652A>G (p.Lys218Glu)
c.445A>G (p.Lys149Glu)
c.226A>G (p.Lys76Glu)
 gnomAD v4
Xg.132084531T>GCA414680795FRMD7c.700A>C (p.Lys234Gln)
c.340A>C (p.Lys114Gln)
c.655A>C (p.Lys219Gln)
c.652A>C (p.Lys218Gln)
c.445A>C (p.Lys149Gln)
c.226A>C (p.Lys76Gln)
Xg.132084532A>CCA414680796FRMD7c.699T>G (p.Phe233Leu)
c.339T>G (p.Phe113Leu)
c.654T>G (p.Phe218Leu)
c.651T>G (p.Phe217Leu)
c.444T>G (p.Phe148Leu)
c.225T>G (p.Phe75Leu)
Xg.132084532A>GCA518612492FRMD7c.699T>C (p.Phe233=)
c.339T>C (p.Phe113=)
c.654T>C (p.Phe218=)
c.651T>C (p.Phe217=)
c.444T>C (p.Phe148=)
c.225T>C (p.Phe75=)
 gnomAD v4
Xg.132084532A>TCA414680797FRMD7c.699T>A (p.Phe233Leu)
c.339T>A (p.Phe113Leu)
c.654T>A (p.Phe218Leu)
c.651T>A (p.Phe217Leu)
c.444T>A (p.Phe148Leu)
c.225T>A (p.Phe75Leu)
 gnomAD v4
Xg.132084533A>CCA414680798FRMD7c.698T>G (p.Phe233Cys)
c.338T>G (p.Phe113Cys)
c.653T>G (p.Phe218Cys)
c.650T>G (p.Phe217Cys)
c.443T>G (p.Phe148Cys)
c.224T>G (p.Phe75Cys)
Xg.132084533A>GCA414680799FRMD7c.698T>C (p.Phe233Ser)
c.338T>C (p.Phe113Ser)
c.653T>C (p.Phe218Ser)
c.650T>C (p.Phe217Ser)
c.443T>C (p.Phe148Ser)
c.224T>C (p.Phe75Ser)
Xg.132084533A>TCA414680800FRMD7c.698T>A (p.Phe233Tyr)
c.338T>A (p.Phe113Tyr)
c.653T>A (p.Phe218Tyr)
c.650T>A (p.Phe217Tyr)
c.443T>A (p.Phe148Tyr)
c.224T>A (p.Phe75Tyr)
Xg.132084534A>CCA414680803FRMD7c.697T>G (p.Phe233Val)
c.337T>G (p.Phe113Val)
c.652T>G (p.Phe218Val)
c.649T>G (p.Phe217Val)
c.442T>G (p.Phe148Val)
c.223T>G (p.Phe75Val)
Xg.132084534A>GCA414680802FRMD7c.697T>C (p.Phe233Leu)
c.337T>C (p.Phe113Leu)
c.652T>C (p.Phe218Leu)
c.649T>C (p.Phe217Leu)
c.442T>C (p.Phe148Leu)
c.223T>C (p.Phe75Leu)
Xg.132084534A>TCA414680801FRMD7c.697T>A (p.Phe233Ile)
c.337T>A (p.Phe113Ile)
c.652T>A (p.Phe218Ile)
c.649T>A (p.Phe217Ile)
c.442T>A (p.Phe148Ile)
c.223T>A (p.Phe75Ile)
Xg.132084535A>CCA414680804FRMD7c.696T>G (p.Ser232Arg)
c.336T>G (p.Ser112Arg)
c.651T>G (p.Ser217Arg)
c.648T>G (p.Ser216Arg)
c.441T>G (p.Ser147Arg)
c.222T>G (p.Ser74Arg)
Xg.132084535A>GCA518612493FRMD7c.696T>C (p.Ser232=)
c.336T>C (p.Ser112=)
c.651T>C (p.Ser217=)
c.648T>C (p.Ser216=)
c.441T>C (p.Ser147=)
c.222T>C (p.Ser74=)
 gnomAD v4
Xg.132084535A>TCA414680805FRMD7c.696T>A (p.Ser232Arg)
c.336T>A (p.Ser112Arg)
c.651T>A (p.Ser217Arg)
c.648T>A (p.Ser216Arg)
c.441T>A (p.Ser147Arg)
c.222T>A (p.Ser74Arg)
Xg.132084536C>ACA414680806FRMD7c.695G>T (p.Ser232Ile)
c.335G>T (p.Ser112Ile)
c.650G>T (p.Ser217Ile)
c.647G>T (p.Ser216Ile)
c.440G>T (p.Ser147Ile)
c.221G>T (p.Ser74Ile)
Xg.132084536C>GCA414680807FRMD7c.695G>C (p.Ser232Thr)
c.335G>C (p.Ser112Thr)
c.650G>C (p.Ser217Thr)
c.647G>C (p.Ser216Thr)
c.440G>C (p.Ser147Thr)
c.221G>C (p.Ser74Thr)
Xg.132084536C>TCA414680808FRMD7c.695G>A (p.Ser232Asn)
c.335G>A (p.Ser112Asn)
c.650G>A (p.Ser217Asn)
c.647G>A (p.Ser216Asn)
c.440G>A (p.Ser147Asn)
c.221G>A (p.Ser74Asn)
Xg.132084537_132084538delCA2695236120FRMD7c.694_695del (p.Ser232PhefsTer2)
c.334_335del (p.Ser112PhefsTer2)
c.649_650del (p.Ser217PhefsTer2)
c.646_647del (p.Ser216PhefsTer2)
c.439_440del (p.Ser147PhefsTer2)
c.220_221del (p.Ser74PhefsTer2)
Xg.132084537T>ACA414680809FRMD7c.694A>T (p.Ser232Cys)
c.334A>T (p.Ser112Cys)
c.649A>T (p.Ser217Cys)
c.646A>T (p.Ser216Cys)
c.439A>T (p.Ser147Cys)
c.220A>T (p.Ser74Cys)
 gnomAD v4
Xg.132084537T>CCA414680810FRMD7c.694A>G (p.Ser232Gly)
c.334A>G (p.Ser112Gly)
c.649A>G (p.Ser217Gly)
c.646A>G (p.Ser216Gly)
c.439A>G (p.Ser147Gly)
c.220A>G (p.Ser74Gly)
 gnomAD v4
Xg.132084537T>GCA414680811FRMD7c.694A>C (p.Ser232Arg)
c.334A>C (p.Ser112Arg)
c.649A>C (p.Ser217Arg)
c.646A>C (p.Ser216Arg)
c.439A>C (p.Ser147Arg)
c.220A>C (p.Ser74Arg)
Xg.132084538C>ACA414680812FRMD7c.693G>T (p.Leu231Phe)
c.333G>T (p.Leu111Phe)
c.648G>T (p.Leu216Phe)
c.645G>T (p.Leu215Phe)
c.438G>T (p.Leu146Phe)
c.219G>T (p.Leu73Phe)
Xg.132084538C>GCA414680813FRMD7c.693G>C (p.Leu231Phe)
c.333G>C (p.Leu111Phe)
c.648G>C (p.Leu216Phe)
c.645G>C (p.Leu215Phe)
c.438G>C (p.Leu146Phe)
c.219G>C (p.Leu73Phe)
Xg.132084538C>TCA518612495FRMD7c.693G>A (p.Leu231=)
c.333G>A (p.Leu111=)
c.648G>A (p.Leu216=)
c.645G>A (p.Leu215=)
c.438G>A (p.Leu146=)
c.219G>A (p.Leu73=)
Xg.132084539A>CCA414680814FRMD7c.692T>G (p.Leu231Trp)
c.332T>G (p.Leu111Trp)
c.647T>G (p.Leu216Trp)
c.644T>G (p.Leu215Trp)
c.437T>G (p.Leu146Trp)
c.218T>G (p.Leu73Trp)
Xg.132084539A>GCA414680815FRMD7c.692T>C (p.Leu231Ser)
c.332T>C (p.Leu111Ser)
c.647T>C (p.Leu216Ser)
c.644T>C (p.Leu215Ser)
c.437T>C (p.Leu146Ser)
c.218T>C (p.Leu73Ser)
 gnomAD v4
Xg.132084539A>TCA414680816FRMD7c.692T>A (p.Leu231Ter)
c.332T>A (p.Leu111Ter)
c.647T>A (p.Leu216Ter)
c.644T>A (p.Leu215Ter)
c.437T>A (p.Leu146Ter)
c.218T>A (p.Leu73Ter)
Xg.132084540A=CA2458955383FRMD7c.691T= (p.Leu231=)
c.331T= (p.Leu111=)
c.646T= (p.Leu216=)
c.643T= (p.Leu215=)
c.436T= (p.Leu146=)
c.217T= (p.Leu73=)
Xg.132084540A>CCA259720FRMD7c.691T>G (p.Leu231Val)
c.331T>G (p.Leu111Val)
c.646T>G (p.Leu216Val)
c.643T>G (p.Leu215Val)
c.436T>G (p.Leu146Val)
c.217T>G (p.Leu73Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.132084540A>GCA518612496FRMD7c.691T>C (p.Leu231=)
c.331T>C (p.Leu111=)
c.646T>C (p.Leu216=)
c.643T>C (p.Leu215=)
c.436T>C (p.Leu146=)
c.217T>C (p.Leu73=)
Xg.132084540A>TCA414680817FRMD7c.691T>A (p.Leu231Met)
c.331T>A (p.Leu111Met)
c.646T>A (p.Leu216Met)
c.643T>A (p.Leu215Met)
c.436T>A (p.Leu146Met)
c.217T>A (p.Leu73Met)
 dbSNP gnomAD v2 gnomAD v4
Xg.132084541_132084548delCA2694717968FRMD7c.684_691del (p.Arg229GlufsTer3)
c.324_331del (p.Arg109GlufsTer3)
c.639_646del (p.Arg214GlufsTer3)
c.636_643del (p.Arg213GlufsTer3)
c.429_436del (p.Arg144GlufsTer3)
c.210_217del (p.Arg71GlufsTer3)
 gnomAD v4

Number of alleles fetched