2 | g.182838418T>A | CA349750158 | FRZB | c.788A>T (p.Glu263Val)
| |
2 | g.182838418T>C | CA349750159 | FRZB | c.788A>G (p.Glu263Gly)
| |
2 | g.182838418T>G | CA349750160 | FRZB | c.788A>C (p.Glu263Ala)
| |
2 | g.182838419C>A | CA349750162 | FRZB | c.787G>T (p.Glu263Ter)
| |
2 | g.182838419C= | CA1312515838 | FRZB | c.787G= (p.Glu263=)
| |
2 | g.182838419C>G | CA349750161 | FRZB | c.787G>C (p.Glu263Gln)
| |
2 | g.182838419C>T | CA2013938 | FRZB | c.787G>A (p.Glu263Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838420C>A | CA349750163 | FRZB | c.786G>T (p.Glu262Asp)
| |
2 | g.182838420C>G | CA349750164 | FRZB | c.786G>C (p.Glu262Asp)
| |
2 | g.182838420C>T | CA430431998 | FRZB | c.786G>A (p.Glu262=)
| |
2 | g.182838421T>A | CA349750165 | FRZB | c.785A>T (p.Glu262Val)
| |
2 | g.182838421T>C | CA349750166 | FRZB | c.785A>G (p.Glu262Gly)
| |
2 | g.182838421T>G | CA349750167 | FRZB | c.785A>C (p.Glu262Ala)
| COSMIC |
2 | g.182838422C>A | CA349750168 | FRZB | c.784G>T (p.Glu262Ter)
| |
2 | g.182838422C>G | CA349750169 | FRZB | c.784G>C (p.Glu262Gln)
| |
2 | g.182838422C>T | CA349750170 | FRZB | c.784G>A (p.Glu262Lys)
| |
2 | g.182838423A>C | CA349750171 | FRZB | c.783T>G (p.Asp261Glu)
| |
2 | g.182838423A>G | CA430432005 | FRZB | c.783T>C (p.Asp261=)
| gnomAD v4 |
2 | g.182838423A>T | CA349750172 | FRZB | c.783T>A (p.Asp261Glu)
| |
2 | g.182838424T>A | CA349750173 | FRZB | c.782A>T (p.Asp261Val)
| |
2 | g.182838424T>C | CA349750174 | FRZB | c.782A>G (p.Asp261Gly)
| |
2 | g.182838424T>G | CA349750175 | FRZB | c.782A>C (p.Asp261Ala)
| |
2 | g.182838425C>A | CA349750181 | FRZB | c.781G>T (p.Asp261Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838425C= | CA1312515839 | FRZB | c.781G= (p.Asp261=)
| |
2 | g.182838425C>G | CA349750179 | FRZB | c.781G>C (p.Asp261His)
| |
2 | g.182838425C>T | CA349750177 | FRZB | c.781G>A (p.Asp261Asn)
| |
2 | g.182838426T>A | CA349750183 | FRZB | c.780A>T (p.Glu260Asp)
| |
2 | g.182838426T>C | CA430432018 | FRZB | c.780A>G (p.Glu260=)
| |
2 | g.182838426T>G | CA349750184 | FRZB | c.780A>C (p.Glu260Asp)
| |
2 | g.182838427T>A | CA349750187 | FRZB | c.779A>T (p.Glu260Val)
| |
2 | g.182838427T>C | CA349750189 | FRZB | c.779A>G (p.Glu260Gly)
| |
2 | g.182838427T>G | CA349750190 | FRZB | c.779A>C (p.Glu260Ala)
| |
2 | g.182838427_182838428delinsTC | CA1312515840 | FRZB | c.778_779delinsGA (p.Glu260=)
| |
2 | g.182838428del | CA761677570 | FRZB | c.778del (p.Glu260LysfsTer15)
| dbSNP |
2 | g.182838428C>A | CA349750193 | FRZB | c.778G>T (p.Glu260Ter)
| dbSNP gnomAD v4 |
2 | g.182838428C= | CA1312515841 | FRZB | c.778G= (p.Glu260=)
| |
2 | g.182838428C>G | CA349750195 | FRZB | c.778G>C (p.Glu260Gln)
| |
2 | g.182838428C>T | CA349750196 | FRZB | c.778G>A (p.Glu260Lys)
| dbSNP gnomAD v2 |
2 | g.182838429A= | CA1312515842 | FRZB | c.777T= (p.Tyr259=)
| |
2 | g.182838429A>C | CA349750198 | FRZB | c.777T>G (p.Tyr259Ter)
| |
2 | g.182838429A>G | CA430432029 | FRZB | c.777T>C (p.Tyr259=)
| gnomAD v4 |
2 | g.182838429A>T | CA349750200 | FRZB | c.777T>A (p.Tyr259Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838430T>A | CA349750202 | FRZB | c.776A>T (p.Tyr259Phe)
| |
2 | g.182838430T>C | CA349750204 | FRZB | c.776A>G (p.Tyr259Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.182838430T>G | CA349750206 | FRZB | c.776A>C (p.Tyr259Ser)
| |
2 | g.182838430T= | CA1312515843 | FRZB | c.776A= (p.Tyr259=)
| |
2 | g.182838431A>C | CA349750210 | FRZB | c.775T>G (p.Tyr259Asp)
| |
2 | g.182838431A>G | CA349750212 | FRZB | c.775T>C (p.Tyr259His)
| |
2 | g.182838431A>T | CA349750209 | FRZB | c.775T>A (p.Tyr259Asn)
| |
2 | g.182838432G>A | CA430432032 | FRZB | c.774C>T (p.Gly258=)
| |
2 | g.182838432G>C | CA430432034 | FRZB | c.774C>G (p.Gly258=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838432G= | CA1312515844 | FRZB | c.774C= (p.Gly258=)
| |
2 | g.182838432G>T | CA430432033 | FRZB | c.774C>A (p.Gly258=)
| |
2 | g.182838433C>A | CA349750215 | FRZB | c.773G>T (p.Gly258Val)
| |
2 | g.182838433C>G | CA349750219 | FRZB | c.773G>C (p.Gly258Ala)
| |
2 | g.182838433C>T | CA349750217 | FRZB | c.773G>A (p.Gly258Asp)
| |
2 | g.182838434C>A | CA349750221 | FRZB | c.772G>T (p.Gly258Cys)
| |
2 | g.182838434C>G | CA349750222 | FRZB | c.772G>C (p.Gly258Arg)
| |
2 | g.182838434C>T | CA349750223 | FRZB | c.772G>A (p.Gly258Ser)
| |
2 | g.182838435C>A | CA349750226 | FRZB | c.771G>T (p.Met257Ile)
| |
2 | g.182838435C>G | CA349750228 | FRZB | c.771G>C (p.Met257Ile)
| |
2 | g.182838435C>T | CA349750229 | FRZB | c.771G>A (p.Met257Ile)
| gnomAD v4 |
2 | g.182838436A= | CA1312515845 | FRZB | c.770T= (p.Met257=)
| |
2 | g.182838436A>C | CA349750231 | FRZB | c.770T>G (p.Met257Arg)
| |
2 | g.182838436A>G | CA2013939 | FRZB | c.770T>C (p.Met257Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838436A>T | CA349750234 | FRZB | c.770T>A (p.Met257Lys)
| |
2 | g.182838437T>A | CA349750237 | FRZB | c.769A>T (p.Met257Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838437T>C | CA349750240 | FRZB | c.769A>G (p.Met257Val)
| |
2 | g.182838437T>G | CA349750242 | FRZB | c.769A>C (p.Met257Leu)
| |
2 | g.182838437T= | CA1312515846 | FRZB | c.769A= (p.Met257=)
| |
2 | g.182838438G>A | CA430432040 | FRZB | c.768C>T (p.Ile256=)
| |
2 | g.182838438G>C | CA349750244 | FRZB | c.768C>G (p.Ile256Met)
| |
2 | g.182838438G>T | CA430432042 | FRZB | c.768C>A (p.Ile256=)
| COSMIC |
2 | g.182838439A>C | CA349750246 | FRZB | c.767T>G (p.Ile256Ser)
| |
2 | g.182838439A>G | CA349750250 | FRZB | c.767T>C (p.Ile256Thr)
| |
2 | g.182838439A>T | CA349750248 | FRZB | c.767T>A (p.Ile256Asn)
| |
2 | g.182838440T>A | CA349750253 | FRZB | c.766A>T (p.Ile256Phe)
| |
2 | g.182838440T>C | CA349750255 | FRZB | c.766A>G (p.Ile256Val)
| |
2 | g.182838440T>G | CA349750257 | FRZB | c.766A>C (p.Ile256Leu)
| gnomAD v4 |
2 | g.182838441G>A | CA430432044 | FRZB | c.765C>T (p.Ile255=)
| |
2 | g.182838441G>C | CA349750259 | FRZB | c.765C>G (p.Ile255Met)
| |
2 | g.182838441G= | CA1312515847 | FRZB | c.765C= (p.Ile255=)
| |
2 | g.182838441G>T | CA61680064 | FRZB | c.765C>A (p.Ile255=)
| dbSNP gnomAD v4 |
2 | g.182838442A= | CA1312515848 | FRZB | c.764T= (p.Ile255=)
| |
2 | g.182838442A>C | CA349750261 | FRZB | c.764T>G (p.Ile255Ser)
| |
2 | g.182838442A>G | CA349750263 | FRZB | c.764T>C (p.Ile255Thr)
| |
2 | g.182838442A>T | CA349750265 | FRZB | c.764T>A (p.Ile255Asn)
| dbSNP |
2 | g.182838443T>A | CA349750267 | FRZB | c.763A>T (p.Ile255Phe)
| gnomAD v4 |
2 | g.182838443T>C | CA349750269 | FRZB | c.763A>G (p.Ile255Val)
| gnomAD v4 |
2 | g.182838443T>G | CA349750270 | FRZB | c.763A>C (p.Ile255Leu)
| |
2 | g.182838444A= | CA1312515849 | FRZB | c.762T= (p.Tyr254=)
| |
2 | g.182838444A>C | CA349750275 | FRZB | c.762T>G (p.Tyr254Ter)
| |
2 | g.182838444A>G | CA2013940 | FRZB | c.762T>C (p.Tyr254=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838444A>T | CA349750272 | FRZB | c.762T>A (p.Tyr254Ter)
| |
2 | g.182838445T>A | CA349750278 | FRZB | c.761A>T (p.Tyr254Phe)
| |
2 | g.182838445T>C | CA349750280 | FRZB | c.761A>G (p.Tyr254Cys)
| gnomAD v4 |
2 | g.182838445T>G | CA349750282 | FRZB | c.761A>C (p.Tyr254Ser)
| |
2 | g.182838446A>C | CA349750284 | FRZB | c.760T>G (p.Tyr254Asp)
| |
2 | g.182838446A>G | CA349750285 | FRZB | c.760T>C (p.Tyr254His)
| COSMIC |
2 | g.182838446A>T | CA349750287 | FRZB | c.760T>A (p.Tyr254Asn)
| |
2 | g.182838447T>A | CA349750289 | FRZB | c.759A>T (p.Glu253Asp)
| |
2 | g.182838447T>C | CA430432050 | FRZB | c.759A>G (p.Glu253=)
| |
2 | g.182838447T>G | CA349750290 | FRZB | c.759A>C (p.Glu253Asp)
| |
2 | g.182838448T>A | CA349750294 | FRZB | c.758A>T (p.Glu253Val)
| |
2 | g.182838448T>C | CA349750295 | FRZB | c.758A>G (p.Glu253Gly)
| |
2 | g.182838448T>G | CA349750297 | FRZB | c.758A>C (p.Glu253Ala)
| |
2 | g.182838449C>A | CA349750300 | FRZB | c.757G>T (p.Glu253Ter)
| gnomAD v4 |
2 | g.182838449C>G | CA349750301 | FRZB | c.757G>C (p.Glu253Gln)
| |
2 | g.182838449C>T | CA349750304 | FRZB | c.757G>A (p.Glu253Lys)
| |
2 | g.182838450C>A | CA349750306 | FRZB | c.756G>T (p.Glu252Asp)
| |
2 | g.182838450C= | CA1312515850 | FRZB | c.756G= (p.Glu252=)
| |
2 | g.182838450C>G | CA349750307 | FRZB | c.756G>C (p.Glu252Asp)
| gnomAD v4 |
2 | g.182838450C>T | CA430432051 | FRZB | c.756G>A (p.Glu252=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838451T>A | CA61680071 | FRZB | c.755A>T (p.Glu252Val)
| dbSNP |
2 | g.182838451T>C | CA349750309 | FRZB | c.755A>G (p.Glu252Gly)
| COSMIC |
2 | g.182838451T>G | CA349750311 | FRZB | c.755A>C (p.Glu252Ala)
| |
2 | g.182838451T= | CA1312515851 | FRZB | c.755A= (p.Glu252=)
| |
2 | g.182838452C>A | CA349750314 | FRZB | c.754G>T (p.Glu252Ter)
| |
2 | g.182838452C= | CA1312515852 | FRZB | c.754G= (p.Glu252=)
| |
2 | g.182838452C>G | CA349750315 | FRZB | c.754G>C (p.Glu252Gln)
| gnomAD v4 |
2 | g.182838452C>T | CA349750317 | FRZB | c.754G>A (p.Glu252Lys)
| dbSNP gnomAD v4 |
2 | g.182838458_182838463del | CA2577180415 | FRZB | c.749_754del (p.Val250_Asn251del)
| |
2 | g.182838453A= | CA1312515853 | FRZB | c.753T= (p.Asn251=)
| |
2 | g.182838453A>C | CA349750319 | FRZB | c.753T>G (p.Asn251Lys)
| |
2 | g.182838453A>G | CA2013941 | FRZB | c.753T>C (p.Asn251=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838453A>T | CA349750322 | FRZB | c.753T>A (p.Asn251Lys)
| |
2 | g.182838454T>A | CA349750324 | FRZB | c.752A>T (p.Asn251Ile)
| |
2 | g.182838454T>C | CA2013942 | FRZB | c.752A>G (p.Asn251Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838454T>G | CA349750327 | FRZB | c.752A>C (p.Asn251Thr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838454T= | CA1312515854 | FRZB | c.752A= (p.Asn251=)
| |
2 | g.182838455T>A | CA349750329 | FRZB | c.751A>T (p.Asn251Tyr)
| gnomAD v4 |
2 | g.182838455T>C | CA349750333 | FRZB | c.751A>G (p.Asn251Asp)
| |
2 | g.182838455T>G | CA349750331 | FRZB | c.751A>C (p.Asn251His)
| gnomAD v4 |
2 | g.182838456A>C | CA430432053 | FRZB | c.750T>G (p.Val250=)
| |
2 | g.182838456A>G | CA430432054 | FRZB | c.750T>C (p.Val250=)
| gnomAD v4 |
2 | g.182838456A>T | CA430432055 | FRZB | c.750T>A (p.Val250=)
| |
2 | g.182838457A>C | CA349750334 | FRZB | c.749T>G (p.Val250Gly)
| |
2 | g.182838457A>G | CA349750338 | FRZB | c.749T>C (p.Val250Ala)
| |
2 | g.182838457A>T | CA349750336 | FRZB | c.749T>A (p.Val250Asp)
| |
2 | g.182838458C>A | CA349750340 | FRZB | c.748G>T (p.Val250Phe)
| |
2 | g.182838458C= | CA1312515855 | FRZB | c.748G= (p.Val250=)
| |
2 | g.182838458C>G | CA349750344 | FRZB | c.748G>C (p.Val250Leu)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838458C>T | CA349750342 | FRZB | c.748G>A (p.Val250Ile)
| dbSNP gnomAD v4 |
2 | g.182838459A= | CA1312515856 | FRZB | c.747T= (p.Asn249=)
| |
2 | g.182838459A>C | CA349750346 | FRZB | c.747T>G (p.Asn249Lys)
| |
2 | g.182838459A>G | CA430432056 | FRZB | c.747T>C (p.Asn249=)
| |
2 | g.182838459A>T | CA2013943 | FRZB | c.747T>A (p.Asn249Lys)
| dbSNP ExAC gnomAD v2 |
2 | g.182838460T>A | CA349750350 | FRZB | c.746A>T (p.Asn249Ile)
| |
2 | g.182838460T>C | CA349750352 | FRZB | c.746A>G (p.Asn249Ser)
| |
2 | g.182838460T>G | CA349750353 | FRZB | c.746A>C (p.Asn249Thr)
| |
2 | g.182838461T>A | CA349750355 | FRZB | c.745A>T (p.Asn249Tyr)
| |
2 | g.182838461T>C | CA349750357 | FRZB | c.745A>G (p.Asn249Asp)
| |
2 | g.182838461T>G | CA349750359 | FRZB | c.745A>C (p.Asn249His)
| |
2 | g.182838462A>C | CA430432057 | FRZB | c.744T>G (p.Leu248=)
| |
2 | g.182838462A>G | CA430432058 | FRZB | c.744T>C (p.Leu248=)
| |
2 | g.182838462A>T | CA430432059 | FRZB | c.744T>A (p.Leu248=)
| |
2 | g.182838463A>C | CA349750362 | FRZB | c.743T>G (p.Leu248Arg)
| |
2 | g.182838463A>G | CA349750364 | FRZB | c.743T>C (p.Leu248Pro)
| |
2 | g.182838463A>T | CA349750366 | FRZB | c.743T>A (p.Leu248His)
| |
2 | g.182838464G>A | CA349750372 | FRZB | c.742C>T (p.Leu248Phe)
| dbSNP gnomAD v4 |
2 | g.182838464G>C | CA349750368 | FRZB | c.742C>G (p.Leu248Val)
| |
2 | g.182838464G= | CA1312515857 | FRZB | c.742C= (p.Leu248=)
| |
2 | g.182838464G>T | CA349750370 | FRZB | c.742C>A (p.Leu248Ile)
| gnomAD v4 |
2 | g.182838465T>A | CA430432060 | FRZB | c.741A>T (p.Pro247=)
| |
2 | g.182838465T>C | CA2013944 | FRZB | c.741A>G (p.Pro247=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838465T>G | CA430432061 | FRZB | c.741A>C (p.Pro247=)
| |
2 | g.182838465T= | CA1312515858 | FRZB | c.741A= (p.Pro247=)
| |
2 | g.182838466G>A | CA349750375 | FRZB | c.740C>T (p.Pro247Leu)
| |
2 | g.182838466G>C | CA349750378 | FRZB | c.740C>G (p.Pro247Arg)
| |
2 | g.182838466G>T | CA349750380 | FRZB | c.740C>A (p.Pro247Gln)
| |
2 | g.182838467G>A | CA349750382 | FRZB | c.739C>T (p.Pro247Ser)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838467G>C | CA349750384 | FRZB | c.739C>G (p.Pro247Ala)
| |
2 | g.182838467G= | CA1312515859 | FRZB | c.739C= (p.Pro247=)
| |
2 | g.182838467G>T | CA349750385 | FRZB | c.739C>A (p.Pro247Thr)
| |
2 | g.182838468A>C | CA430432062 | FRZB | c.738T>G (p.Pro246=)
| gnomAD v4 |
2 | g.182838468A>G | CA430432063 | FRZB | c.738T>C (p.Pro246=)
| |
2 | g.182838468A>T | CA430432064 | FRZB | c.738T>A (p.Pro246=)
| |
2 | g.182838469G>A | CA349750388 | FRZB | c.737C>T (p.Pro246Leu)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.182838469G>C | CA349750389 | FRZB | c.737C>G (p.Pro246Arg)
| |
2 | g.182838469G= | CA1312515860 | FRZB | c.737C= (p.Pro246=)
| |
2 | g.182838469G>T | CA349750391 | FRZB | c.737C>A (p.Pro246His)
| |
2 | g.182838471del | CA2662236418 | FRZB | c.737del (p.Pro246LeufsTer29)
| gnomAD v4 |
2 | g.182838470G>A | CA61680092 | FRZB | c.736C>T (p.Pro246Ser)
| dbSNP gnomAD v4 COSMIC |
2 | g.182838470G>C | CA349750396 | FRZB | c.736C>G (p.Pro246Ala)
| |
2 | g.182838470G= | CA1312515861 | FRZB | c.736C= (p.Pro246=)
| |
2 | g.182838470G>T | CA349750394 | FRZB | c.736C>A (p.Pro246Thr)
| |
2 | g.182838471G>A | CA430432065 | FRZB | c.735C>T (p.Cys245=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838471G>C | CA349750398 | FRZB | c.735C>G (p.Cys245Trp)
| |
2 | g.182838471G= | CA1312515862 | FRZB | c.735C= (p.Cys245=)
| |
2 | g.182838471G>T | CA349750400 | FRZB | c.735C>A (p.Cys245Ter)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838472C>A | CA349750401 | FRZB | c.734G>T (p.Cys245Phe)
| |
2 | g.182838472C= | CA1312515863 | FRZB | c.734G= (p.Cys245=)
| |
2 | g.182838472C>G | CA349750402 | FRZB | c.734G>C (p.Cys245Ser)
| |
2 | g.182838472C>T | CA349750403 | FRZB | c.734G>A (p.Cys245Tyr)
| dbSNP gnomAD v4 |
2 | g.182838473A= | CA1312515864 | FRZB | c.733T= (p.Cys245=)
| |
2 | g.182838473A>C | CA349750406 | FRZB | c.733T>G (p.Cys245Gly)
| dbSNP |
2 | g.182838473A>G | CA349750408 | FRZB | c.733T>C (p.Cys245Arg)
| gnomAD v4 |
2 | g.182838473A>T | CA349750410 | FRZB | c.733T>A (p.Cys245Ser)
| |
2 | g.182838474G>A | CA430432068 | FRZB | c.732C>T (p.Leu244=)
| |
2 | g.182838474G>C | CA430432067 | FRZB | c.732C>G (p.Leu244=)
| |
2 | g.182838474G>T | CA430432066 | FRZB | c.732C>A (p.Leu244=)
| |
2 | g.182838475A>C | CA349750412 | FRZB | c.731T>G (p.Leu244Arg)
| |
2 | g.182838475A>G | CA349750414 | FRZB | c.731T>C (p.Leu244Pro)
| |
2 | g.182838475A>T | CA349750415 | FRZB | c.731T>A (p.Leu244His)
| |
2 | g.182838476G>A | CA349750421 | FRZB | c.730C>T (p.Leu244Phe)
| |
2 | g.182838476G>C | CA349750419 | FRZB | c.730C>G (p.Leu244Val)
| |
2 | g.182838476G>T | CA349750417 | FRZB | c.730C>A (p.Leu244Ile)
| |
2 | g.182838477G>A | CA430432069 | FRZB | c.729C>T (p.Cys243=)
| |
2 | g.182838477G>C | CA349750423 | FRZB | c.729C>G (p.Cys243Trp)
| gnomAD v4 |
2 | g.182838477G>T | CA349750425 | FRZB | c.729C>A (p.Cys243Ter)
| gnomAD v4 |
2 | g.182838478C>A | CA349750427 | FRZB | c.728G>T (p.Cys243Phe)
| |
2 | g.182838478C>G | CA349750429 | FRZB | c.728G>C (p.Cys243Ser)
| gnomAD v4 |
2 | g.182838478C>T | CA349750431 | FRZB | c.728G>A (p.Cys243Tyr)
| gnomAD v4 |
2 | g.182838479A>C | CA349750432 | FRZB | c.727T>G (p.Cys243Gly)
| |
2 | g.182838479A>G | CA349750434 | FRZB | c.727T>C (p.Cys243Arg)
| |
2 | g.182838479A>T | CA349750436 | FRZB | c.727T>A (p.Cys243Ser)
| |
2 | g.182838480G>A | CA61680093 | FRZB | c.726C>T (p.Gly242=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838480G>C | CA430432070 | FRZB | c.726C>G (p.Gly242=)
| |
2 | g.182838480G= | CA1312515865 | FRZB | c.726C= (p.Gly242=)
| |
2 | g.182838480G>T | CA430432071 | FRZB | c.726C>A (p.Gly242=)
| |
2 | g.182838481C>A | CA349750440 | FRZB | c.725G>T (p.Gly242Val)
| |
2 | g.182838481C>G | CA349750441 | FRZB | c.725G>C (p.Gly242Ala)
| |
2 | g.182838481C>T | CA349750443 | FRZB | c.725G>A (p.Gly242Asp)
| |
2 | g.182838482C>A | CA349750447 | FRZB | c.724G>T (p.Gly242Cys)
| |
2 | g.182838482C>G | CA349750449 | FRZB | c.724G>C (p.Gly242Arg)
| |
2 | g.182838482C>T | CA349750445 | FRZB | c.724G>A (p.Gly242Ser)
| |
2 | g.182838483A>C | CA430432072 | FRZB | c.723T>G (p.Ser241=)
| |
2 | g.182838483A>G | CA430432073 | FRZB | c.723T>C (p.Ser241=)
| dbSNP |
2 | g.182838483A>T | CA430432074 | FRZB | c.723T>A (p.Ser241=)
| |
2 | g.182838484G>A | CA349750455 | FRZB | c.722C>T (p.Ser241Phe)
| gnomAD v4 |
2 | g.182838484G>C | CA349750452 | FRZB | c.722C>G (p.Ser241Cys)
| gnomAD v4 |
2 | g.182838484G>T | CA349750453 | FRZB | c.722C>A (p.Ser241Tyr)
| |
2 | g.182838485A>C | CA349750457 | FRZB | c.721T>G (p.Ser241Ala)
| |
2 | g.182838485A>G | CA349750459 | FRZB | c.721T>C (p.Ser241Pro)
| |
2 | g.182838485A>T | CA349750461 | FRZB | c.721T>A (p.Ser241Thr)
| |
2 | g.182838486G>A | CA430432075 | FRZB | c.720C>T (p.Ser240=)
| COSMIC |
2 | g.182838486G>C | CA349750462 | FRZB | c.720C>G (p.Ser240Arg)
| |
2 | g.182838486G>T | CA349750464 | FRZB | c.720C>A (p.Ser240Arg)
| |
2 | g.182838487C>A | CA349750466 | FRZB | c.719G>T (p.Ser240Ile)
| |
2 | g.182838487C= | CA1312515866 | FRZB | c.719G= (p.Ser240=)
| |
2 | g.182838487C>G | CA349750468 | FRZB | c.719G>C (p.Ser240Thr)
| |
2 | g.182838487C>T | CA349750470 | FRZB | c.719G>A (p.Ser240Asn)
| dbSNP |
2 | g.182838488T>A | CA349750472 | FRZB | c.718A>T (p.Ser240Cys)
| |
2 | g.182838488T>C | CA349750474 | FRZB | c.718A>G (p.Ser240Gly)
| gnomAD v4 |
2 | g.182838488T>G | CA349750476 | FRZB | c.718A>C (p.Ser240Arg)
| |
2 | g.182838488_182838496delinsTGGTATAGA | CA1312515867 | FRZB | c.710_718delinsTCTATACCA (p.Leu237=)
| |
2 | g.182838489G>A | CA430432076 | FRZB | c.717C>T (p.Thr239=)
| dbSNP gnomAD v4 |
2 | g.182838489G>C | CA430432078 | FRZB | c.717C>G (p.Thr239=)
| |
2 | g.182838489G= | CA1312515868 | FRZB | c.717C= (p.Thr239=)
| |
2 | g.182838489G>T | CA430432079 | FRZB | c.717C>A (p.Thr239=)
| |
2 | g.182838492_182838499dup | CA538439243 | FRZB | c.710_717dup (p.Ser241IlefsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838492_182838499del | CA538439242 | FRZB | c.710_717del (p.Leu237GlnfsTer10)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838490G>A | CA349750478 | FRZB | c.716C>T (p.Thr239Ile)
| gnomAD v4 |
2 | g.182838490G>C | CA349750482 | FRZB | c.716C>G (p.Thr239Ser)
| |
2 | g.182838490G>T | CA349750480 | FRZB | c.716C>A (p.Thr239Asn)
| |
2 | g.182838491T>A | CA349750484 | FRZB | c.715A>T (p.Thr239Ser)
| |
2 | g.182838491T>C | CA2013945 | FRZB | c.715A>G (p.Thr239Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838491T>G | CA349750487 | FRZB | c.715A>C (p.Thr239Pro)
| |
2 | g.182838491T= | CA1312515869 | FRZB | c.715A= (p.Thr239=)
| |
2 | g.182838492A= | CA1312515870 | FRZB | c.714T= (p.Tyr238=)
| |
2 | g.182838492A>C | CA349750489 | FRZB | c.714T>G (p.Tyr238Ter)
| |
2 | g.182838492A>G | CA430432081 | FRZB | c.714T>C (p.Tyr238=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838492A>T | CA349750491 | FRZB | c.714T>A (p.Tyr238Ter)
| |
2 | g.182838493T>A | CA349750492 | FRZB | c.713A>T (p.Tyr238Phe)
| |
2 | g.182838493T>C | CA61680101 | FRZB | c.713A>G (p.Tyr238Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838493T>G | CA349750495 | FRZB | c.713A>C (p.Tyr238Ser)
| |
2 | g.182838493T= | CA1312515871 | FRZB | c.713A= (p.Tyr238=)
| |
2 | g.182838494A>C | CA349750497 | FRZB | c.712T>G (p.Tyr238Asp)
| |
2 | g.182838494A>G | CA349750499 | FRZB | c.712T>C (p.Tyr238His)
| |
2 | g.182838494A>T | CA349750501 | FRZB | c.712T>A (p.Tyr238Asn)
| |
2 | g.182838495G>A | CA430432084 | FRZB | c.711C>T (p.Leu237=)
| |
2 | g.182838495G>C | CA430432083 | FRZB | c.711C>G (p.Leu237=)
| |
2 | g.182838495G>T | CA430432082 | FRZB | c.711C>A (p.Leu237=)
| |
2 | g.182838496A>C | CA349750505 | FRZB | c.710T>G (p.Leu237Arg)
| gnomAD v4 |
2 | g.182838496A>G | CA349750507 | FRZB | c.710T>C (p.Leu237Pro)
| |
2 | g.182838496A>T | CA349750504 | FRZB | c.710T>A (p.Leu237His)
| |
2 | g.182838497G>A | CA349750509 | FRZB | c.709C>T (p.Leu237Phe)
| |
2 | g.182838497G>C | CA349750511 | FRZB | c.709C>G (p.Leu237Val)
| |
2 | g.182838497G>T | CA349750513 | FRZB | c.709C>A (p.Leu237Ile)
| |
2 | g.182838498G>A | CA430432087 | FRZB | c.708C>T (p.Asn236=)
| |
2 | g.182838498G>C | CA349750514 | FRZB | c.708C>G (p.Asn236Lys)
| |
2 | g.182838498G>T | CA349750516 | FRZB | c.708C>A (p.Asn236Lys)
| |
2 | g.182838499T>A | CA349750517 | FRZB | c.707A>T (p.Asn236Ile)
| |
2 | g.182838499T>C | CA2013946 | FRZB | c.707A>G (p.Asn236Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838499T>G | CA349750520 | FRZB | c.707A>C (p.Asn236Thr)
| dbSNP |
2 | g.182838499T= | CA1312515872 | FRZB | c.707A= (p.Asn236=)
| |
2 | g.182838500T>A | CA349750522 | FRZB | c.706A>T (p.Asn236Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838500T>C | CA349750524 | FRZB | c.706A>G (p.Asn236Asp)
| |
2 | g.182838500T>G | CA349750526 | FRZB | c.706A>C (p.Asn236His)
| |
2 | g.182838500T= | CA1312515873 | FRZB | c.706A= (p.Asn236=)
| |
2 | g.182838501G>A | CA2013947 | FRZB | c.705C>T (p.Val235=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838501G>C | CA430432095 | FRZB | c.705C>G (p.Val235=)
| |
2 | g.182838501G= | CA1312515874 | FRZB | c.705C= (p.Val235=)
| |
2 | g.182838501G>T | CA430432096 | FRZB | c.705C>A (p.Val235=)
| |
2 | g.182838502A= | CA1312515875 | FRZB | c.704T= (p.Val235=)
| |
2 | g.182838502A>C | CA349750531 | FRZB | c.704T>G (p.Val235Gly)
| |
2 | g.182838502A>G | CA2013948 | FRZB | c.704T>C (p.Val235Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.182838502A>T | CA349750529 | FRZB | c.704T>A (p.Val235Asp)
| |
2 | g.182838503C>A | CA349750535 | FRZB | c.703G>T (p.Val235Phe)
| |
2 | g.182838503C= | CA1312515876 | FRZB | c.703G= (p.Val235=)
| |
2 | g.182838503C>G | CA349750537 | FRZB | c.703G>C (p.Val235Leu)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838503C>T | CA349750539 | FRZB | c.703G>A (p.Val235Ile)
| |
2 | g.182838504A>C | CA430432100 | FRZB | c.702T>G (p.Thr234=)
| |
2 | g.182838504A>G | CA430432101 | FRZB | c.702T>C (p.Thr234=)
| |
2 | g.182838504A>T | CA430432102 | FRZB | c.702T>A (p.Thr234=)
| |
2 | g.182838504_182838505insTTTTTCTTGG | CA2564217854 | FRZB | c.701_702insCCAAGAAAAA (p.Val235GlnfsTer18)
| |
2 | g.182838505G>A | CA349750541 | FRZB | c.701C>T (p.Thr234Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838505G>C | CA349750543 | FRZB | c.701C>G (p.Thr234Ser)
| |
2 | g.182838505G= | CA1312515877 | FRZB | c.701C= (p.Thr234=)
| |
2 | g.182838505G>T | CA349750544 | FRZB | c.701C>A (p.Thr234Asn)
| |
2 | g.182838506T>A | CA349750550 | FRZB | c.700A>T (p.Thr234Ser)
| |
2 | g.182838506T>C | CA349750547 | FRZB | c.700A>G (p.Thr234Ala)
| |
2 | g.182838506T>G | CA349750549 | FRZB | c.700A>C (p.Thr234Pro)
| |
2 | g.182838507G>A | CA430432104 | FRZB | c.699C>T (p.Asp233=)
| dbSNP |
2 | g.182838507G>C | CA349750554 | FRZB | c.699C>G (p.Asp233Glu)
| |
2 | g.182838507G= | CA1312515878 | FRZB | c.699C= (p.Asp233=)
| |
2 | g.182838507G>T | CA349750555 | FRZB | c.699C>A (p.Asp233Glu)
| |
2 | g.182838508T>A | CA349750558 | FRZB | c.698A>T (p.Asp233Val)
| |
2 | g.182838508T>C | CA349750560 | FRZB | c.698A>G (p.Asp233Gly)
| |
2 | g.182838508T>G | CA349750561 | FRZB | c.698A>C (p.Asp233Ala)
| |
2 | g.182838509C>A | CA349750568 | FRZB | c.697G>T (p.Asp233Tyr)
| gnomAD v4 COSMIC |
2 | g.182838509C>G | CA349750566 | FRZB | c.697G>C (p.Asp233His)
| |
2 | g.182838509C>T | CA349750565 | FRZB | c.697G>A (p.Asp233Asn)
| gnomAD v4 |
2 | g.182838510C>A | CA430432105 | FRZB | c.696G>T (p.Arg232=)
| |
2 | g.182838510C= | CA1312515879 | FRZB | c.696G= (p.Arg232=)
| |
2 | g.182838510C>G | CA2013949 | FRZB | c.696G>C (p.Arg232=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838510C>T | CA430432106 | FRZB | c.696G>A (p.Arg232=)
| |
2 | g.182838511C>A | CA349750574 | FRZB | c.695G>T (p.Arg232Leu)
| |
2 | g.182838511C= | CA1312515880 | FRZB | c.695G= (p.Arg232=)
| |
2 | g.182838511C>G | CA349750572 | FRZB | c.695G>C (p.Arg232Pro)
| |
2 | g.182838511C>T | CA2013950 | FRZB | c.695G>A (p.Arg232Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838512G>A | CA2013951 | FRZB | c.694C>T (p.Arg232Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838512G>C | CA349750579 | FRZB | c.694C>G (p.Arg232Gly)
| |
2 | g.182838512G= | CA1312515881 | FRZB | c.694C= (p.Arg232=)
| |
2 | g.182838512G>T | CA430432108 | FRZB | c.694C>A (p.Arg232=)
| |
2 | g.182838513T>A | CA430432109 | FRZB | c.693A>T (p.Pro231=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838513T>C | CA430432110 | FRZB | c.693A>G (p.Pro231=)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.182838513T>G | CA430432111 | FRZB | c.693A>C (p.Pro231=)
| |
2 | g.182838513T= | CA1312515882 | FRZB | c.693A= (p.Pro231=)
| |
2 | g.182838514G>A | CA349750581 | FRZB | c.692C>T (p.Pro231Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.182838514G>C | CA349750585 | FRZB | c.692C>G (p.Pro231Arg)
| |
2 | g.182838514G= | CA1312515883 | FRZB | c.692C= (p.Pro231=)
| |
2 | g.182838514G>T | CA349750583 | FRZB | c.692C>A (p.Pro231Gln)
| |
2 | g.182838515G>A | CA349750586 | FRZB | c.691C>T (p.Pro231Ser)
| |
2 | g.182838515G>C | CA349750588 | FRZB | c.691C>G (p.Pro231Ala)
| gnomAD v4 |
2 | g.182838515G>T | CA349750590 | FRZB | c.691C>A (p.Pro231Thr)
| |
2 | g.182838516A>C | CA349750593 | FRZB | c.690T>G (p.Ile230Met)
| |
2 | g.182838516A>G | CA430432113 | FRZB | c.690T>C (p.Ile230=)
| |
2 | g.182838516A>T | CA430432112 | FRZB | c.690T>A (p.Ile230=)
| |
2 | g.182838517A= | CA1312515884 | FRZB | c.689T= (p.Ile230=)
| |
2 | g.182838517A>C | CA349750595 | FRZB | c.689T>G (p.Ile230Ser)
| |
2 | g.182838517A>G | CA349750597 | FRZB | c.689T>C (p.Ile230Thr)
| dbSNP gnomAD v4 |
2 | g.182838517A>T | CA349750599 | FRZB | c.689T>A (p.Ile230Asn)
| |
2 | g.182838518T>A | CA349750601 | FRZB | c.688A>T (p.Ile230Phe)
| |
2 | g.182838518T>C | CA349750603 | FRZB | c.688A>G (p.Ile230Val)
| |
2 | g.182838518T>G | CA349750604 | FRZB | c.688A>C (p.Ile230Leu)
| |