6 | g.49459211del | CA2739273065 | MMUT | c.257del (p.Pro86GlnfsTer3)
| ClinVar |
6 | g.49459211G>A | CA3847151 | MMUT | c.256C>T (p.Pro86Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459211G>C | CA364405166 | MMUT | c.256C>G (p.Pro86Ala)
| |
6 | g.49459211G= | CA1627396783 | MMUT | c.256C= (p.Pro86=)
| |
6 | g.49459211G>T | CA364405168 | MMUT | c.256C>A (p.Pro86Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459212A>C | CA450609617 | MMUT | c.255T>G (p.Leu85=)
| |
6 | g.49459212A>G | CA450609618 | MMUT | c.255T>C (p.Leu85=)
| |
6 | g.49459212A>T | CA450609619 | MMUT | c.255T>A (p.Leu85=)
| |
6 | g.49459216_49459228del | CA2573140888 | MMUT | c.243_255del (p.Leu81PhefsTer4)
| ClinVar dbSNP |
6 | g.49459213A>C | CA364405169 | MMUT | c.254T>G (p.Leu85Arg)
| |
6 | g.49459213A>G | CA364405170 | MMUT | c.254T>C (p.Leu85Pro)
| |
6 | g.49459213A>T | CA364405172 | MMUT | c.254T>A (p.Leu85His)
| |
6 | g.49459214G>A | CA3847152 | MMUT | c.253C>T (p.Leu85Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459214G>C | CA364405179 | MMUT | c.253C>G (p.Leu85Val)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459214G= | CA1627396789 | MMUT | c.253C= (p.Leu85=)
| |
6 | g.49459214G>T | CA364405174 | MMUT | c.253C>A (p.Leu85Ile)
| |
6 | g.49459215T>A | CA364405180 | MMUT | c.252A>T (p.Glu84Asp)
| dbSNP |
6 | g.49459215T>C | CA450609624 | MMUT | c.252A>G (p.Glu84=)
| |
6 | g.49459215T>G | CA364405181 | MMUT | c.252A>C (p.Glu84Asp)
| |
6 | g.49459215T= | CA1627396794 | MMUT | c.252A= (p.Glu84=)
| |
6 | g.49459216T>A | CA364405183 | MMUT | c.251A>T (p.Glu84Val)
| |
6 | g.49459216T>C | CA364405186 | MMUT | c.251A>G (p.Glu84Gly)
| |
6 | g.49459216T>G | CA364405184 | MMUT | c.251A>C (p.Glu84Ala)
| |
6 | g.49459217C>A | CA364405187 | MMUT | c.250G>T (p.Glu84Ter)
| |
6 | g.49459217C>G | CA364405190 | MMUT | c.250G>C (p.Glu84Gln)
| |
6 | g.49459217C>T | CA364405189 | MMUT | c.250G>A (p.Glu84Lys)
| gnomAD v4 |
6 | g.49459218T>A | CA364405192 | MMUT | c.249A>T (p.Glu83Asp)
| |
6 | g.49459218T>C | CA450609625 | MMUT | c.249A>G (p.Glu83=)
| |
6 | g.49459218T>G | CA364405194 | MMUT | c.249A>C (p.Glu83Asp)
| dbSNP gnomAD v4 |
6 | g.49459218T= | CA1627396797 | MMUT | c.249A= (p.Glu83=)
| |
6 | g.49459219T>A | CA364405196 | MMUT | c.248A>T (p.Glu83Val)
| dbSNP |
6 | g.49459219T>C | CA364405198 | MMUT | c.248A>G (p.Glu83Gly)
| gnomAD v4 |
6 | g.49459219T>G | CA364405200 | MMUT | c.248A>C (p.Glu83Ala)
| |
6 | g.49459219T= | CA1627396801 | MMUT | c.248A= (p.Glu83=)
| |
6 | g.49459220C>A | CA364405201 | MMUT | c.247G>T (p.Glu83Ter)
| |
6 | g.49459220C>G | CA364405202 | MMUT | c.247G>C (p.Glu83Gln)
| |
6 | g.49459220C>T | CA364405204 | MMUT | c.247G>A (p.Glu83Lys)
| |
6 | g.49459221A= | CA1627396804 | MMUT | c.246T= (p.Pro82=)
| |
6 | g.49459221A>C | CA450609630 | MMUT | c.246T>G (p.Pro82=)
| |
6 | g.49459221A>G | CA450609631 | MMUT | c.246T>C (p.Pro82=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459221A>T | CA450609633 | MMUT | c.246T>A (p.Pro82=)
| |
6 | g.49459222G>A | CA364405206 | MMUT | c.245C>T (p.Pro82Leu)
| gnomAD v4 |
6 | g.49459222G>C | CA3847153 | MMUT | c.245C>G (p.Pro82Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459222G= | CA1627396806 | MMUT | c.245C= (p.Pro82=)
| |
6 | g.49459222G>T | CA364405211 | MMUT | c.245C>A (p.Pro82His)
| |
6 | g.49459223G>A | CA364405213 | MMUT | c.244C>T (p.Pro82Ser)
| |
6 | g.49459223G>C | CA364405215 | MMUT | c.244C>G (p.Pro82Ala)
| |
6 | g.49459223G= | CA1627396809 | MMUT | c.244C= (p.Pro82=)
| |
6 | g.49459223G>T | CA364405221 | MMUT | c.244C>A (p.Pro82Thr)
| |
6 | g.49459224T>A | CA364405223 | MMUT | c.243A>T (p.Leu81Phe)
| |
6 | g.49459224T>C | CA450609639 | MMUT | c.243A>G (p.Leu81=)
| |
6 | g.49459224T>G | CA364405225 | MMUT | c.243A>C (p.Leu81Phe)
| |
6 | g.49459224_49459225insTT | CA2679047393 | MMUT | c.243_244insAA (p.Pro82AsnfsTer8)
| gnomAD v4 |
6 | g.49459224dup | CA825483996 | MMUT | c.243dup (p.Pro82ThrfsTer2)
| dbSNP |
6 | g.49459225A>C | CA364405227 | MMUT | c.242T>G (p.Leu81Ter)
| |
6 | g.49459225A>G | CA364405229 | MMUT | c.242T>C (p.Leu81Ser)
| |
6 | g.49459225A>T | CA364405230 | MMUT | c.242T>A (p.Leu81Ter)
| |
6 | g.49459225_49459226insCC | CA2679047394 | MMUT | c.241_242insGG (p.Leu81TrpfsTer9)
| gnomAD v4 |
6 | g.49459226A= | CA1627396816 | MMUT | c.241T= (p.Leu81=)
| |
6 | g.49459226A>C | CA364405232 | MMUT | c.241T>G (p.Leu81Val)
| |
6 | g.49459226A>G | CA138801064 | MMUT | c.241T>C (p.Leu81=)
| ClinVar dbSNP |
6 | g.49459226A>T | CA364405234 | MMUT | c.241T>A (p.Leu81Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459227G>A | CA450609642 | MMUT | c.240C>T (p.Asp80=)
| |
6 | g.49459227G>C | CA364405235 | MMUT | c.240C>G (p.Asp80Glu)
| gnomAD v4 |
6 | g.49459227G>T | CA364405237 | MMUT | c.240C>A (p.Asp80Glu)
| |
6 | g.49459228T>A | CA364405239 | MMUT | c.239A>T (p.Asp80Val)
| |
6 | g.49459228T>C | CA364405241 | MMUT | c.239A>G (p.Asp80Gly)
| |
6 | g.49459228T>G | CA364405242 | MMUT | c.239A>C (p.Asp80Ala)
| gnomAD v4 |
6 | g.49459229C>A | CA364405245 | MMUT | c.238G>T (p.Asp80Tyr)
| |
6 | g.49459229C>G | CA364405246 | MMUT | c.238G>C (p.Asp80His)
| gnomAD v4 |
6 | g.49459229C>T | CA364405244 | MMUT | c.238G>A (p.Asp80Asn)
| |
6 | g.49459230C>A | CA364405248 | MMUT | c.237G>T (p.Met79Ile)
| |
6 | g.49459230C>G | CA364405249 | MMUT | c.237G>C (p.Met79Ile)
| |
6 | g.49459230C>T | CA364405251 | MMUT | c.237G>A (p.Met79Ile)
| |
6 | g.49459231A= | CA1627396820 | MMUT | c.236T= (p.Met79=)
| |
6 | g.49459231A>C | CA364405252 | MMUT | c.236T>G (p.Met79Arg)
| |
6 | g.49459231A>G | CA364405254 | MMUT | c.236T>C (p.Met79Thr)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459231A>T | CA364405255 | MMUT | c.236T>A (p.Met79Lys)
| |
6 | g.49459232T>A | CA364405258 | MMUT | c.235A>T (p.Met79Leu)
| |
6 | g.49459232T>C | CA3847154 | MMUT | c.235A>G (p.Met79Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459232T>G | CA364405259 | MMUT | c.235A>C (p.Met79Leu)
| dbSNP |
6 | g.49459232T= | CA1627396823 | MMUT | c.235A= (p.Met79=)
| |
6 | g.49459233A= | CA1627396827 | MMUT | c.234T= (p.Thr78=)
| |
6 | g.49459233A>C | CA3847155 | MMUT | c.234T>G (p.Thr78=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459233A>G | CA3847156 | MMUT | c.234T>C (p.Thr78=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459233A>T | CA450609648 | MMUT | c.234T>A (p.Thr78=)
| |
6 | g.49459234G>A | CA364405263 | MMUT | c.233C>T (p.Thr78Ile)
| |
6 | g.49459234G>C | CA364405265 | MMUT | c.233C>G (p.Thr78Ser)
| |
6 | g.49459234G>T | CA364405262 | MMUT | c.233C>A (p.Thr78Asn)
| |
6 | g.49459235T>A | CA364405267 | MMUT | c.232A>T (p.Thr78Ser)
| |
6 | g.49459235T>C | CA364405269 | MMUT | c.232A>G (p.Thr78Ala)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459235T>G | CA364405271 | MMUT | c.232A>C (p.Thr78Pro)
| |
6 | g.49459235T= | CA1627396830 | MMUT | c.232A= (p.Thr78=)
| |
6 | g.49459236A>C | CA364405272 | MMUT | c.231T>G (p.Asp77Glu)
| |
6 | g.49459236A>G | CA450609651 | MMUT | c.231T>C (p.Asp77=)
| |
6 | g.49459236A>T | CA364405273 | MMUT | c.231T>A (p.Asp77Glu)
| |
6 | g.49459237T>A | CA138801085 | MMUT | c.230A>T (p.Asp77Val)
| dbSNP gnomAD v4 |
6 | g.49459237T>C | CA364405274 | MMUT | c.230A>G (p.Asp77Gly)
| dbSNP gnomAD v4 |
6 | g.49459237T>G | CA364405276 | MMUT | c.230A>C (p.Asp77Ala)
| |
6 | g.49459237T= | CA1627396834 | MMUT | c.230A= (p.Asp77=)
| |
6 | g.49459238C>A | CA364405278 | MMUT | c.229G>T (p.Asp77Tyr)
| |
6 | g.49459238C>G | CA364405280 | MMUT | c.229G>C (p.Asp77His)
| |
6 | g.49459238C>T | CA364405281 | MMUT | c.229G>A (p.Asp77Asn)
| |
6 | g.49459239T>A | CA364405282 | MMUT | c.228A>T (p.Arg76Ser)
| gnomAD v4 |
6 | g.49459239T>C | CA450609653 | MMUT | c.228A>G (p.Arg76=)
| |
6 | g.49459239T>G | CA364405284 | MMUT | c.228A>C (p.Arg76Ser)
| |
6 | g.49459240C>A | CA364405289 | MMUT | c.227G>T (p.Arg76Ile)
| |
6 | g.49459240C= | CA1627396838 | MMUT | c.227G= (p.Arg76=)
| |
6 | g.49459240C>G | CA364405288 | MMUT | c.227G>C (p.Arg76Thr)
| dbSNP |
6 | g.49459240C>T | CA364405286 | MMUT | c.227G>A (p.Arg76Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459241T>A | CA364405292 | MMUT | c.226A>T (p.Arg76Ter)
| |
6 | g.49459241T>C | CA3847157 | MMUT | c.226A>G (p.Arg76Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459241T>G | CA450609654 | MMUT | c.226A>C (p.Arg76=)
| |
6 | g.49459241T= | CA1627396842 | MMUT | c.226A= (p.Arg76=)
| |
6 | g.49459242C>A | CA364405293 | MMUT | c.225G>T (p.Lys75Asn)
| |
6 | g.49459242C= | CA1627396846 | MMUT | c.225G= (p.Lys75=)
| |
6 | g.49459242C>G | CA364405294 | MMUT | c.225G>C (p.Lys75Asn)
| |
6 | g.49459242C>T | CA450609659 | MMUT | c.225G>A (p.Lys75=)
| dbSNP |
6 | g.49459243T>A | CA364405297 | MMUT | c.224A>T (p.Lys75Met)
| |
6 | g.49459243T>C | CA364405299 | MMUT | c.224A>G (p.Lys75Arg)
| dbSNP |
6 | g.49459243T>G | CA364405300 | MMUT | c.224A>C (p.Lys75Thr)
| |
6 | g.49459243T= | CA1627396851 | MMUT | c.224A= (p.Lys75=)
| |
6 | g.49459244del | CA2695206699 | MMUT | c.224del (p.Lys75ArgfsTer14)
| |
6 | g.49459244T>A | CA364405301 | MMUT | c.223A>T (p.Lys75Ter)
| |
6 | g.49459244T>C | CA364405303 | MMUT | c.223A>G (p.Lys75Glu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459244T>G | CA364405304 | MMUT | c.223A>C (p.Lys75Gln)
| |
6 | g.49459244T= | CA1627396854 | MMUT | c.223A= (p.Lys75=)
| |
6 | g.49459245G>A | CA3847158 | MMUT | c.222C>T (p.Ser74=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459245G>C | CA450609662 | MMUT | c.222C>G (p.Ser74=)
| |
6 | g.49459245G= | CA1627396856 | MMUT | c.222C= (p.Ser74=)
| |
6 | g.49459245G>T | CA450609664 | MMUT | c.222C>A (p.Ser74=)
| |
6 | g.49459246G>A | CA364405306 | MMUT | c.221C>T (p.Ser74Phe)
| gnomAD v4 |
6 | g.49459246G>C | CA364405307 | MMUT | c.221C>G (p.Ser74Cys)
| |
6 | g.49459246G>T | CA364405309 | MMUT | c.221C>A (p.Ser74Tyr)
| |
6 | g.49459247A= | CA1627396861 | MMUT | c.220T= (p.Ser74=)
| |
6 | g.49459247A>C | CA3847159 | MMUT | c.220T>G (p.Ser74Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459247A>G | CA364405313 | MMUT | c.220T>C (p.Ser74Pro)
| |
6 | g.49459247A>T | CA364405312 | MMUT | c.220T>A (p.Ser74Thr)
| |
6 | g.49459248A>C | CA364405315 | MMUT | c.219T>G (p.Tyr73Ter)
| |
6 | g.49459248A>G | CA450609670 | MMUT | c.219T>C (p.Tyr73=)
| |
6 | g.49459248A>T | CA364405317 | MMUT | c.219T>A (p.Tyr73Ter)
| |
6 | g.49459249T>A | CA364405318 | MMUT | c.218A>T (p.Tyr73Phe)
| |
6 | g.49459249T>C | CA364405319 | MMUT | c.218A>G (p.Tyr73Cys)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459249T>G | CA364405322 | MMUT | c.218A>C (p.Tyr73Ser)
| |
6 | g.49459249T= | CA1627396864 | MMUT | c.218A= (p.Tyr73=)
| |
6 | g.49459250A>C | CA364405324 | MMUT | c.217T>G (p.Tyr73Asp)
| |
6 | g.49459250A>G | CA364405325 | MMUT | c.217T>C (p.Tyr73His)
| |
6 | g.49459250A>T | CA364405327 | MMUT | c.217T>A (p.Tyr73Asn)
| |
6 | g.49459251C>A | CA364405329 | MMUT | c.216G>T (p.Leu72Phe)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459251C= | CA1627396867 | MMUT | c.216G= (p.Leu72=)
| |
6 | g.49459251C>G | CA364405330 | MMUT | c.216G>C (p.Leu72Phe)
| |
6 | g.49459251C>T | CA450609673 | MMUT | c.216G>A (p.Leu72=)
| ClinVar dbSNP |
6 | g.49459252A= | CA1627396871 | MMUT | c.215T= (p.Leu72=)
| |
6 | g.49459252A>C | CA364405332 | MMUT | c.215T>G (p.Leu72Trp)
| |
6 | g.49459252A>G | CA3847160 | MMUT | c.215T>C (p.Leu72Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459252A>T | CA364405331 | MMUT | c.215T>A (p.Leu72Ter)
| |
6 | g.49459253A>C | CA364405333 | MMUT | c.214T>G (p.Leu72Val)
| |
6 | g.49459253A>G | CA450609675 | MMUT | c.214T>C (p.Leu72=)
| |
6 | g.49459253A>T | CA364405336 | MMUT | c.214T>A (p.Leu72Met)
| |
6 | g.49459254G>A | CA450609676 | MMUT | c.213C>T (p.Pro71=)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459254G>C | CA450609679 | MMUT | c.213C>G (p.Pro71=)
| dbSNP gnomAD v4 |
6 | g.49459254G= | CA1627396877 | MMUT | c.213C= (p.Pro71=)
| |
6 | g.49459254G>T | CA450609682 | MMUT | c.213C>A (p.Pro71=)
| |
6 | g.49459256del | CA2679047395 | MMUT | c.213del (p.Leu72CysfsTer17)
| gnomAD v4 |
6 | g.49459254_49459257dup | CA2697553433 | MMUT | c.210_213dup (p.Leu72ThrfsTer13)
| ClinVar |
6 | g.49459255G>A | CA364405337 | MMUT | c.212C>T (p.Pro71Leu)
| dbSNP gnomAD v4 |
6 | g.49459255G>C | CA364405338 | MMUT | c.212C>G (p.Pro71Arg)
| |
6 | g.49459255G= | CA1627396885 | MMUT | c.212C= (p.Pro71=)
| |
6 | g.49459255G>T | CA364405339 | MMUT | c.212C>A (p.Pro71His)
| |
6 | g.49459256G>A | CA364405344 | MMUT | c.211C>T (p.Pro71Ser)
| |
6 | g.49459256G>C | CA364405343 | MMUT | c.211C>G (p.Pro71Ala)
| |
6 | g.49459256G= | CA1627396888 | MMUT | c.211C= (p.Pro71=)
| |
6 | g.49459256G>T | CA364405341 | MMUT | c.211C>A (p.Pro71Thr)
| |
6 | g.49459257T>A | CA364405346 | MMUT | c.210A>T (p.Lys70Asn)
| |
6 | g.49459257T>C | CA450609684 | MMUT | c.210A>G (p.Lys70=)
| dbSNP |
6 | g.49459257T>G | CA364405348 | MMUT | c.210A>C (p.Lys70Asn)
| |
6 | g.49459257T= | CA1627396893 | MMUT | c.210A= (p.Lys70=)
| |
6 | g.49459260dup | CA3847161 | MMUT | c.210dup (p.Pro71ThrfsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459258T>A | CA364405350 | MMUT | c.209A>T (p.Lys70Ile)
| |
6 | g.49459258T>C | CA364405351 | MMUT | c.209A>G (p.Lys70Arg)
| |
6 | g.49459258T>G | CA364405352 | MMUT | c.209A>C (p.Lys70Thr)
| |
6 | g.49459259T>A | CA364405355 | MMUT | c.208A>T (p.Lys70Ter)
| |
6 | g.49459259T>C | CA364405358 | MMUT | c.208A>G (p.Lys70Glu)
| |
6 | g.49459259T>G | CA364405356 | MMUT | c.208A>C (p.Lys70Gln)
| |
6 | g.49459260T>A | CA450609687 | MMUT | c.207A>T (p.Ile69=)
| |
6 | g.49459260T>C | CA3847162 | MMUT | c.207A>G (p.Ile69Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459260T>G | CA450609688 | MMUT | c.207A>C (p.Ile69=)
| |
6 | g.49459260T= | CA1627396898 | MMUT | c.207A= (p.Ile69=)
| |
6 | g.49459261A>C | CA364405361 | MMUT | c.206T>G (p.Ile69Arg)
| |
6 | g.49459261A>G | CA364405363 | MMUT | c.206T>C (p.Ile69Thr)
| |
6 | g.49459261A>T | CA364405365 | MMUT | c.206T>A (p.Ile69Lys)
| |
6 | g.49459262T>A | CA364405368 | MMUT | c.205A>T (p.Ile69Leu)
| |
6 | g.49459262T>C | CA3847163 | MMUT | c.205A>G (p.Ile69Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49459262T>G | CA364405370 | MMUT | c.205A>C (p.Ile69Leu)
| |
6 | g.49459262T= | CA1627396901 | MMUT | c.205A= (p.Ile69=)
| |
6 | g.49459262_49459264delinsTAG | CA1627396905 | MMUT | c.203_205delinsCTA (p.Ser68=)
| |
6 | g.49459263A= | CA1627396909 | MMUT | c.204T= (p.Ser68=)
| |
6 | g.49459263A>C | CA450609691 | MMUT | c.204T>G (p.Ser68=)
| gnomAD v4 |
6 | g.49459263A>G | CA3847164 | MMUT | c.204T>C (p.Ser68=)
| ClinVar dbSNP ExAC gnomAD v4 |
6 | g.49459263A>T | CA450609694 | MMUT | c.204T>A (p.Ser68=)
| |
6 | g.49459266_49459267del | CA1627396907 | MMUT | c.203_204del (p.Ser68TyrfsTer15)
| dbSNP |
6 | g.49459264G>A | CA364405375 | MMUT | c.203C>T (p.Ser68Phe)
| gnomAD v4 |
6 | g.49459264G>C | CA364405377 | MMUT | c.203C>G (p.Ser68Cys)
| |
6 | g.49459264G>T | CA364405379 | MMUT | c.203C>A (p.Ser68Tyr)
| |
6 | g.49459265A>C | CA364405386 | MMUT | c.202T>G (p.Ser68Ala)
| |
6 | g.49459265A>G | CA364405385 | MMUT | c.202T>C (p.Ser68Pro)
| |
6 | g.49459265A>T | CA364405383 | MMUT | c.202T>A (p.Ser68Thr)
| |
6 | g.49459266G>A | CA450609699 | MMUT | c.201C>T (p.Ile67=)
| |
6 | g.49459266G>C | CA364405387 | MMUT | c.201C>G (p.Ile67Met)
| gnomAD v4 COSMIC |
6 | g.49459266G>T | CA450609700 | MMUT | c.201C>A (p.Ile67=)
| |
6 | g.49459267A= | CA1627396911 | MMUT | c.200T= (p.Ile67=)
| |
6 | g.49459267A>C | CA3847165 | MMUT | c.200T>G (p.Ile67Ser)
| dbSNP ExAC gnomAD v2 |
6 | g.49459267A>G | CA364405390 | MMUT | c.200T>C (p.Ile67Thr)
| |
6 | g.49459267A>T | CA364405394 | MMUT | c.200T>A (p.Ile67Asn)
| gnomAD v4 |
6 | g.49459268T>A | CA364405395 | MMUT | c.199A>T (p.Ile67Phe)
| |
6 | g.49459268T>C | CA138801106 | MMUT | c.199A>G (p.Ile67Val)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459268T>G | CA364405400 | MMUT | c.199A>C (p.Ile67Leu)
| |
6 | g.49459268T= | CA1627396917 | MMUT | c.199A= (p.Ile67=)
| |
6 | g.49459268_49459269delinsTC | CA1627396919 | MMUT | c.198_199delinsGA (p.Gly66=)
| |
6 | g.49459269C>A | CA450609706 | MMUT | c.198G>T (p.Gly66=)
| dbSNP |
6 | g.49459269C= | CA1627396927 | MMUT | c.198G= (p.Gly66=)
| |
6 | g.49459269C>G | CA450609705 | MMUT | c.198G>C (p.Gly66=)
| |
6 | g.49459269C>T | CA450609704 | MMUT | c.198G>A (p.Gly66=)
| |
6 | g.49459271del | CA567156061 | MMUT | c.198del (p.Ile67SerfsTer3)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459270C>A | CA364405402 | MMUT | c.197G>T (p.Gly66Val)
| |
6 | g.49459270C>G | CA364405405 | MMUT | c.197G>C (p.Gly66Ala)
| |
6 | g.49459270C>T | CA364405406 | MMUT | c.197G>A (p.Gly66Glu)
| gnomAD v4 |
6 | g.49459271C>A | CA364405409 | MMUT | c.196G>T (p.Gly66Trp)
| |
6 | g.49459271C= | CA1627396929 | MMUT | c.196G= (p.Gly66=)
| |
6 | g.49459271C>G | CA364405412 | MMUT | c.196G>C (p.Gly66Arg)
| gnomAD v4 |
6 | g.49459271C>T | CA3847166 | MMUT | c.196G>A (p.Gly66Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459272T>A | CA364405415 | MMUT | c.195A>T (p.Glu65Asp)
| gnomAD v4 |
6 | g.49459272T>C | CA450609712 | MMUT | c.195A>G (p.Glu65=)
| |
6 | g.49459272T>G | CA364405418 | MMUT | c.195A>C (p.Glu65Asp)
| |
6 | g.49459273T>A | CA364405423 | MMUT | c.194A>T (p.Glu65Val)
| |
6 | g.49459273T>C | CA364405420 | MMUT | c.194A>G (p.Glu65Gly)
| |
6 | g.49459273T>G | CA364405421 | MMUT | c.194A>C (p.Glu65Ala)
| |
6 | g.49459274C>A | CA364405425 | MMUT | c.193G>T (p.Glu65Ter)
| |
6 | g.49459274C>G | CA364405427 | MMUT | c.193G>C (p.Glu65Gln)
| |
6 | g.49459274C>T | CA364405429 | MMUT | c.193G>A (p.Glu65Lys)
| |
6 | g.49459275C>A | CA450609715 | MMUT | c.192G>T (p.Pro64=)
| |
6 | g.49459275C= | CA1627396937 | MMUT | c.192G= (p.Pro64=)
| |
6 | g.49459275C>G | CA450609716 | MMUT | c.192G>C (p.Pro64=)
| |
6 | g.49459275C>T | CA3847167 | MMUT | c.192G>A (p.Pro64=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459275_49459276delinsCG | CA1627396936 | MMUT | c.191_192delinsCG (p.Pro64=)
| |
6 | g.49459276G>A | CA3847168 | MMUT | c.191C>T (p.Pro64Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.49459276G>C | CA364405434 | MMUT | c.191C>G (p.Pro64Arg)
| |
6 | g.49459276G= | CA1627396943 | MMUT | c.191C= (p.Pro64=)
| |
6 | g.49459276G>T | CA364405435 | MMUT | c.191C>A (p.Pro64Gln)
| |
6 | g.49459279del | CA1627396946 | MMUT | c.191del (p.Pro64ArgfsTer6)
| dbSNP gnomAD v4 |
6 | g.49459277G>A | CA364405438 | MMUT | c.190C>T (p.Pro64Ser)
| COSMIC |
6 | g.49459277G>C | CA364405439 | MMUT | c.190C>G (p.Pro64Ala)
| |
6 | g.49459277G>T | CA364405441 | MMUT | c.190C>A (p.Pro64Thr)
| |
6 | g.49459278G>A | CA450609718 | MMUT | c.189C>T (p.Thr63=)
| |
6 | g.49459278G>C | CA450609719 | MMUT | c.189C>G (p.Thr63=)
| |
6 | g.49459278G= | CA1627396951 | MMUT | c.189C= (p.Thr63=)
| |
6 | g.49459278G>T | CA3847169 | MMUT | c.189C>A (p.Thr63=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459279G>A | CA364405445 | MMUT | c.188C>T (p.Thr63Ile)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459279G>C | CA364405447 | MMUT | c.188C>G (p.Thr63Ser)
| |
6 | g.49459279G= | CA1627396958 | MMUT | c.188C= (p.Thr63=)
| |
6 | g.49459279G>T | CA364405444 | MMUT | c.188C>A (p.Thr63Asn)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459280T>A | CA364405449 | MMUT | c.187A>T (p.Thr63Ser)
| |
6 | g.49459280T>C | CA364405451 | MMUT | c.187A>G (p.Thr63Ala)
| |
6 | g.49459280T>G | CA364405452 | MMUT | c.187A>C (p.Thr63Pro)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459280T= | CA1627396964 | MMUT | c.187A= (p.Thr63=)
| |
6 | g.49459281G>A | CA450609724 | MMUT | c.186C>T (p.His62=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459281G>C | CA364405454 | MMUT | c.186C>G (p.His62Gln)
| |
6 | g.49459281G>T | CA364405456 | MMUT | c.186C>A (p.His62Gln)
| gnomAD v4 |
6 | g.49459282T>A | CA364405462 | MMUT | c.185A>T (p.His62Leu)
| |
6 | g.49459282T>C | CA364405460 | MMUT | c.185A>G (p.His62Arg)
| gnomAD v4 |
6 | g.49459282T>G | CA364405459 | MMUT | c.185A>C (p.His62Pro)
| |
6 | g.49459283G>A | CA138801151 | MMUT | c.184C>T (p.His62Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459283G>C | CA364405464 | MMUT | c.184C>G (p.His62Asp)
| |
6 | g.49459283G= | CA1627396966 | MMUT | c.184C= (p.His62=)
| |
6 | g.49459283G>T | CA364405466 | MMUT | c.184C>A (p.His62Asn)
| |
6 | g.49459284C>A | CA364405467 | MMUT | c.183G>T (p.Trp61Cys)
| ClinVar |
6 | g.49459284C= | CA1627396969 | MMUT | c.183G= (p.Trp61=)
| |
6 | g.49459284C>G | CA364405469 | MMUT | c.183G>C (p.Trp61Cys)
| |
6 | g.49459284C>T | CA3847170 | MMUT | c.183G>A (p.Trp61Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459285C>A | CA364405471 | MMUT | c.182G>T (p.Trp61Leu)
| |
6 | g.49459285C>G | CA364405475 | MMUT | c.182G>C (p.Trp61Ser)
| |
6 | g.49459285C>T | CA364405473 | MMUT | c.182G>A (p.Trp61Ter)
| gnomAD v4 |
6 | g.49459286A= | CA1627396973 | MMUT | c.181T= (p.Trp61=)
| |
6 | g.49459286A>C | CA364405477 | MMUT | c.181T>G (p.Trp61Gly)
| |
6 | g.49459286A>G | CA364405478 | MMUT | c.181T>C (p.Trp61Arg)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459286A>T | CA364405480 | MMUT | c.181T>A (p.Trp61Arg)
| gnomAD v4 |
6 | g.49459286dup | CA2679047396 | MMUT | c.181dup (p.Trp61LeufsTer23)
| gnomAD v4 |
6 | g.49459287T>A | CA450609730 | MMUT | c.180A>T (p.Ile60=)
| |
6 | g.49459287T>C | CA364405481 | MMUT | c.180A>G (p.Ile60Met)
| |
6 | g.49459287T>G | CA450609731 | MMUT | c.180A>C (p.Ile60=)
| |
6 | g.49459288A= | CA1627396977 | MMUT | c.179T= (p.Ile60=)
| |
6 | g.49459288A>C | CA364405483 | MMUT | c.179T>G (p.Ile60Arg)
| |
6 | g.49459288A>G | CA3847171 | MMUT | c.179T>C (p.Ile60Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459288A>T | CA364405485 | MMUT | c.179T>A (p.Ile60Lys)
| |
6 | g.49459289T>A | CA364405486 | MMUT | c.178A>T (p.Ile60Leu)
| |
6 | g.49459289T>C | CA364405487 | MMUT | c.178A>G (p.Ile60Val)
| gnomAD v4 |
6 | g.49459289T>G | CA138801154 | MMUT | c.178A>C (p.Ile60Leu)
| dbSNP gnomAD v4 |
6 | g.49459289T= | CA1627396980 | MMUT | c.178A= (p.Ile60=)
| |
6 | g.49459290T>A | CA450609732 | MMUT | c.177A>T (p.Leu59=)
| |
6 | g.49459290T>C | CA450609733 | MMUT | c.177A>G (p.Leu59=)
| gnomAD v4 |
6 | g.49459290T>G | CA3847172 | MMUT | c.177A>C (p.Leu59=)
| dbSNP ExAC gnomAD v2 |
6 | g.49459290T= | CA1627396984 | MMUT | c.177A= (p.Leu59=)
| |
6 | g.49459291A= | CA1627396990 | MMUT | c.176T= (p.Leu59=)
| |
6 | g.49459291A>C | CA3847173 | MMUT | c.176T>G (p.Leu59Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459291A>G | CA364405491 | MMUT | c.176T>C (p.Leu59Pro)
| |
6 | g.49459291A>T | CA364405489 | MMUT | c.176T>A (p.Leu59Gln)
| |
6 | g.49459291dup | CA2541146814 | MMUT | c.176dup (p.Ile60AsnfsTer24)
| |
6 | g.49459292G>A | CA3847174 | MMUT | c.175C>T (p.Leu59=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459292G>C | CA364405494 | MMUT | c.175C>G (p.Leu59Val)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459292G= | CA1627396994 | MMUT | c.175C= (p.Leu59=)
| |
6 | g.49459292G>T | CA364405495 | MMUT | c.175C>A (p.Leu59Ile)
| |
6 | g.49459293G>A | CA450609738 | MMUT | c.174C>T (p.Asp58=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459293G>C | CA364405497 | MMUT | c.174C>G (p.Asp58Glu)
| |
6 | g.49459293G= | CA1627396998 | MMUT | c.174C= (p.Asp58=)
| |
6 | g.49459293G>T | CA364405499 | MMUT | c.174C>A (p.Asp58Glu)
| |
6 | g.49459293_49459294insGTGAGATTTTAATGTAAGACATAATATTTATGA | CA2529819337 | MMUT | c.173_174insTCATAAATATTATGTCTTACATTAAAATCTCAC (p.Asp59HisfsTer8)
| |
6 | g.49459294T>A | CA364405500 | MMUT | c.173A>T (p.Asp58Val)
| |
6 | g.49459294T>C | CA364405502 | MMUT | c.173A>G (p.Asp58Gly)
| |
6 | g.49459294T>G | CA3847175 | MMUT | c.173A>C (p.Asp58Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459294T= | CA1627397001 | MMUT | c.173A= (p.Asp58=)
| |
6 | g.49459295C>A | CA364405503 | MMUT | c.172G>T (p.Asp58Tyr)
| dbSNP |
6 | g.49459295C= | CA1627397004 | MMUT | c.172G= (p.Asp58=)
| |
6 | g.49459295C>G | CA364405505 | MMUT | c.172G>C (p.Asp58His)
| |
6 | g.49459295C>T | CA364405507 | MMUT | c.172G>A (p.Asp58Asn)
| |
6 | g.49459296T>A | CA364405509 | MMUT | c.171A>T (p.Glu57Asp)
| |
6 | g.49459296T>C | CA450609741 | MMUT | c.171A>G (p.Glu57=)
| |
6 | g.49459296T>G | CA364405510 | MMUT | c.171A>C (p.Glu57Asp)
| |
6 | g.49459297T>A | CA364405515 | MMUT | c.170A>T (p.Glu57Val)
| |
6 | g.49459297T>C | CA364405514 | MMUT | c.170A>G (p.Glu57Gly)
| |
6 | g.49459297T>G | CA364405512 | MMUT | c.170A>C (p.Glu57Ala)
| |
6 | g.49459298C>A | CA364405517 | MMUT | c.169G>T (p.Glu57Ter)
| |
6 | g.49459298C>G | CA364405518 | MMUT | c.169G>C (p.Glu57Gln)
| |
6 | g.49459298C>T | CA364405520 | MMUT | c.169G>A (p.Glu57Lys)
| |
6 | g.49459299T>A | CA450609744 | MMUT | c.168A>T (p.Pro56=)
| |
6 | g.49459299T>C | CA450609746 | MMUT | c.168A>G (p.Pro56=)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459299T>G | CA450609747 | MMUT | c.168A>C (p.Pro56=)
| |
6 | g.49459299T= | CA1627397008 | MMUT | c.168A= (p.Pro56=)
| |
6 | g.49459300G>A | CA364405521 | MMUT | c.167C>T (p.Pro56Leu)
| |
6 | g.49459300G>C | CA364405523 | MMUT | c.167C>G (p.Pro56Arg)
| |
6 | g.49459300G>T | CA364405524 | MMUT | c.167C>A (p.Pro56Gln)
| |
6 | g.49459301G>A | CA364405526 | MMUT | c.166C>T (p.Pro56Ser)
| dbSNP gnomAD v4 |
6 | g.49459301G>C | CA364405527 | MMUT | c.166C>G (p.Pro56Ala)
| |
6 | g.49459301G= | CA1627397012 | MMUT | c.166C= (p.Pro56=)
| |
6 | g.49459301G>T | CA364405529 | MMUT | c.166C>A (p.Pro56Thr)
| |
6 | g.49459302G>A | CA450609748 | MMUT | c.165C>T (p.Asn55=)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459302G>C | CA364405530 | MMUT | c.165C>G (p.Asn55Lys)
| |
6 | g.49459302G= | CA1627397020 | MMUT | c.165C= (p.Asn55=)
| |
6 | g.49459302G>T | CA235520 | MMUT | c.165C>A (p.Asn55Lys)
| ClinVar dbSNP |
6 | g.49459303T>A | CA364405532 | MMUT | c.164A>T (p.Asn55Ile)
| |
6 | g.49459303T>C | CA364405534 | MMUT | c.164A>G (p.Asn55Ser)
| |
6 | g.49459303T>G | CA364405535 | MMUT | c.164A>C (p.Asn55Thr)
| |
6 | g.49459307del | CA2695206700 | MMUT | c.164del (p.Asn55ThrfsTer5)
| |
6 | g.49459304T>A | CA364405538 | MMUT | c.163A>T (p.Asn55Tyr)
| |
6 | g.49459304T>C | CA364405539 | MMUT | c.163A>G (p.Asn55Asp)
| |
6 | g.49459304T>G | CA364405537 | MMUT | c.163A>C (p.Asn55His)
| |
6 | g.49459305T>A | CA364405540 | MMUT | c.162A>T (p.Lys54Asn)
| |
6 | g.49459305T>C | CA450609751 | MMUT | c.162A>G (p.Lys54=)
| |
6 | g.49459305T>G | CA364405542 | MMUT | c.162A>C (p.Lys54Asn)
| |
6 | g.49459308_49459313del | CA2580075516 | MMUT | c.157_162del (p.Gly53_Lys54del)
| ClinVar |
6 | g.49459306T>A | CA364405543 | MMUT | c.161A>T (p.Lys54Ile)
| |
6 | g.49459306T>C | CA3847176 | MMUT | c.161A>G (p.Lys54Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459306T>G | CA364405545 | MMUT | c.161A>C (p.Lys54Thr)
| |
6 | g.49459306T= | CA1627397023 | MMUT | c.161A= (p.Lys54=)
| |
6 | g.49459307T>A | CA364405547 | MMUT | c.160A>T (p.Lys54Ter)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459307T>C | CA364405549 | MMUT | c.160A>G (p.Lys54Glu)
| |
6 | g.49459307T>G | CA364405550 | MMUT | c.160A>C (p.Lys54Gln)
| |
6 | g.49459307T= | CA1627397028 | MMUT | c.160A= (p.Lys54=)
| |
6 | g.49459308G>A | CA450609759 | MMUT | c.159C>T (p.Gly53=)
| |
6 | g.49459308G>C | CA450609758 | MMUT | c.159C>G (p.Gly53=)
| gnomAD v4 |
6 | g.49459308G>T | CA450609756 | MMUT | c.159C>A (p.Gly53=)
| |
6 | g.49459309C>A | CA364405552 | MMUT | c.158G>T (p.Gly53Val)
| |
6 | g.49459309C>G | CA364405553 | MMUT | c.158G>C (p.Gly53Ala)
| |
6 | g.49459309C>T | CA364405556 | MMUT | c.158G>A (p.Gly53Asp)
| |
6 | g.49459310C>A | CA364405562 | MMUT | c.157G>T (p.Gly53Cys)
| |
6 | g.49459310C>G | CA364405560 | MMUT | c.157G>C (p.Gly53Arg)
| |
6 | g.49459310C>T | CA364405558 | MMUT | c.157G>A (p.Gly53Ser)
| |
6 | g.49459311T>A | CA364405563 | MMUT | c.156A>T (p.Lys52Asn)
| |
6 | g.49459311T>C | CA450609763 | MMUT | c.156A>G (p.Lys52=)
| |
6 | g.49459311T>G | CA364405564 | MMUT | c.156A>C (p.Lys52Asn)
| |