6 | g.49457795T>A | CA364404282 | MMUT | c.649A>T (p.Ile217Phe)
| |
6 | g.49457795T>C | CA364404283 | MMUT | c.649A>G (p.Ile217Val)
| |
6 | g.49457795T>G | CA364404284 | MMUT | c.649A>C (p.Ile217Leu)
| |
6 | g.49457796G>A | CA3847077 | MMUT | c.648C>T (p.Thr216=)
| ClinVar dbSNP ExAC gnomAD v2 |
6 | g.49457796G>C | CA450608791 | MMUT | c.648C>G (p.Thr216=)
| |
6 | g.49457796G= | CA1627395171 | MMUT | c.648C= (p.Thr216=)
| |
6 | g.49457796G>T | CA450608792 | MMUT | c.648C>A (p.Thr216=)
| |
6 | g.49457797G>A | CA364404285 | MMUT | c.647C>T (p.Thr216Ile)
| |
6 | g.49457797G>C | CA364404286 | MMUT | c.647C>G (p.Thr216Ser)
| |
6 | g.49457797G= | CA1627395174 | MMUT | c.647C= (p.Thr216=)
| |
6 | g.49457797G>T | CA364404287 | MMUT | c.647C>A (p.Thr216Asn)
| ClinVar dbSNP |
6 | g.49457798T>A | CA364404288 | MMUT | c.646A>T (p.Thr216Ser)
| |
6 | g.49457798T>C | CA364404289 | MMUT | c.646A>G (p.Thr216Ala)
| |
6 | g.49457798T>G | CA364404290 | MMUT | c.646A>C (p.Thr216Pro)
| |
6 | g.49457799A>C | CA450608795 | MMUT | c.645T>G (p.Gly215=)
| |
6 | g.49457799A>G | CA450608794 | MMUT | c.645T>C (p.Gly215=)
| ClinVar |
6 | g.49457799A>T | CA450608793 | MMUT | c.645T>A (p.Gly215=)
| |
6 | g.49457800C>A | CA364404292 | MMUT | c.644G>T (p.Gly215Val)
| |
6 | g.49457800C= | CA1627395179 | MMUT | c.644G= (p.Gly215=)
| |
6 | g.49457800C>G | CA364404291 | MMUT | c.644G>C (p.Gly215Ala)
| |
6 | g.49457800C>T | CA3847078 | MMUT | c.644G>A (p.Gly215Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457801C>A | CA16618294 | MMUT | c.643G>T (p.Gly215Cys)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457801C= | CA1627395185 | MMUT | c.643G= (p.Gly215=)
| |
6 | g.49457801C>G | CA364404293 | MMUT | c.643G>C (p.Gly215Arg)
| |
6 | g.49457801C>T | CA249733 | MMUT | c.643G>A (p.Gly215Ser)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457802A= | CA1627395194 | MMUT | c.642T= (p.Thr214=)
| |
6 | g.49457802A>C | CA450608796 | MMUT | c.642T>G (p.Thr214=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457802A>G | CA450608797 | MMUT | c.642T>C (p.Thr214=)
| gnomAD v4 |
6 | g.49457802A>T | CA450608798 | MMUT | c.642T>A (p.Thr214=)
| ClinVar dbSNP |
6 | g.49457803G>A | CA364404294 | MMUT | c.641C>T (p.Thr214Ile)
| |
6 | g.49457803G>C | CA364404295 | MMUT | c.641C>G (p.Thr214Ser)
| |
6 | g.49457803G>T | CA364404296 | MMUT | c.641C>A (p.Thr214Asn)
| |
6 | g.49457804T>A | CA364404297 | MMUT | c.640A>T (p.Thr214Ser)
| |
6 | g.49457804T>C | CA138799637 | MMUT | c.640A>G (p.Thr214Ala)
| dbSNP |
6 | g.49457804T>G | CA364404298 | MMUT | c.640A>C (p.Thr214Pro)
| |
6 | g.49457804T= | CA1627395198 | MMUT | c.640A= (p.Thr214=)
| |
6 | g.49457805A>C | CA450608799 | MMUT | c.639T>G (p.Leu213=)
| |
6 | g.49457805A>G | CA450608801 | MMUT | c.639T>C (p.Leu213=)
| |
6 | g.49457805A>T | CA450608800 | MMUT | c.639T>A (p.Leu213=)
| |
6 | g.49457806A>C | CA364404299 | MMUT | c.638T>G (p.Leu213Arg)
| |
6 | g.49457806A>G | CA364404300 | MMUT | c.638T>C (p.Leu213Pro)
| |
6 | g.49457806A>T | CA364404301 | MMUT | c.638T>A (p.Leu213His)
| |
6 | g.49457807G>A | CA364404302 | MMUT | c.637C>T (p.Leu213Phe)
| |
6 | g.49457807G>C | CA3847079 | MMUT | c.637C>G (p.Leu213Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457807G= | CA1627395202 | MMUT | c.637C= (p.Leu213=)
| |
6 | g.49457807G>T | CA364404303 | MMUT | c.637C>A (p.Leu213Ile)
| |
6 | g.49457808C>A | CA364404304 | MMUT | c.636G>T (p.Lys212Asn)
| |
6 | g.49457808C= | CA347880 | MMUT | c.636G= (p.Lys212=)
| |
6 | g.49457808C>G | CA364404305 | MMUT | c.636G>C (p.Lys212Asn)
| |
6 | g.49457808C>T | CA285337 | MMUT | c.636G>A (p.Lys212=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457809T>A | CA364404306 | MMUT | c.635A>T (p.Lys212Met)
| |
6 | g.49457809T>C | CA138799653 | MMUT | c.635A>G (p.Lys212Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457809T>G | CA364404307 | MMUT | c.635A>C (p.Lys212Thr)
| |
6 | g.49457809T= | CA1627395214 | MMUT | c.635A= (p.Lys212=)
| |
6 | g.49457810T>A | CA364404308 | MMUT | c.634A>T (p.Lys212Ter)
| |
6 | g.49457810T>C | CA364404309 | MMUT | c.634A>G (p.Lys212Glu)
| |
6 | g.49457810T>G | CA364404310 | MMUT | c.634A>C (p.Lys212Gln)
| |
6 | g.49457811C>A | CA364404311 | MMUT | c.633G>T (p.Glu211Asp)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457811C= | CA1627395219 | MMUT | c.633G= (p.Glu211=)
| |
6 | g.49457811C>G | CA3847080 | MMUT | c.633G>C (p.Glu211Asp)
| dbSNP ExAC gnomAD v2 |
6 | g.49457811C>T | CA450608802 | MMUT | c.633G>A (p.Glu211=)
| |
6 | g.49457811_49457813del | CA913187321 | MMUT | c.631_633del (p.Glu211del)
| |
6 | g.49457812T>A | CA364404312 | MMUT | c.632A>T (p.Glu211Val)
| |
6 | g.49457812T>C | CA3847081 | MMUT | c.632A>G (p.Glu211Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457812T>G | CA364404313 | MMUT | c.632A>C (p.Glu211Ala)
| |
6 | g.49457812T= | CA1627395222 | MMUT | c.632A= (p.Glu211=)
| |
6 | g.49457813C>A | CA364404315 | MMUT | c.631G>T (p.Glu211Ter)
| |
6 | g.49457813C>G | CA364404316 | MMUT | c.631G>C (p.Glu211Gln)
| |
6 | g.49457813C>T | CA364404314 | MMUT | c.631G>A (p.Glu211Lys)
| |
6 | g.49457813_49457814delinsCT | CA1627395226 | MMUT | c.630_631delinsAG (p.Lys210=)
| |
6 | g.49457814T>A | CA364404317 | MMUT | c.630A>T (p.Lys210Asn)
| |
6 | g.49457814T>C | CA450608803 | MMUT | c.630A>G (p.Lys210=)
| |
6 | g.49457814T>G | CA364404318 | MMUT | c.630A>C (p.Lys210Asn)
| |
6 | g.49457816del | CA10575879 | MMUT | c.630del (p.Glu211ArgfsTer12)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457815T>A | CA364404319 | MMUT | c.629A>T (p.Lys210Ile)
| |
6 | g.49457815T>C | CA364404320 | MMUT | c.629A>G (p.Lys210Arg)
| |
6 | g.49457815T>G | CA364404321 | MMUT | c.629A>C (p.Lys210Thr)
| |
6 | g.49457816T>A | CA364404322 | MMUT | c.628A>T (p.Lys210Ter)
| |
6 | g.49457816T>C | CA138799678 | MMUT | c.628A>G (p.Lys210Glu)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457816T>G | CA364404323 | MMUT | c.628A>C (p.Lys210Gln)
| |
6 | g.49457816T= | CA1627395235 | MMUT | c.628A= (p.Lys210=)
| |
6 | g.49457817A= | CA1627395239 | MMUT | c.627T= (p.Pro209=)
| |
6 | g.49457817A>C | CA3847082 | MMUT | c.627T>G (p.Pro209=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457817A>G | CA450608804 | MMUT | c.627T>C (p.Pro209=)
| ClinVar |
6 | g.49457817A>T | CA450608805 | MMUT | c.627T>A (p.Pro209=)
| |
6 | g.49457818G>A | CA364404324 | MMUT | c.626C>T (p.Pro209Leu)
| |
6 | g.49457818G>C | CA364404325 | MMUT | c.626C>G (p.Pro209Arg)
| |
6 | g.49457818G>T | CA364404326 | MMUT | c.626C>A (p.Pro209His)
| |
6 | g.49457819dup | CA825482501 | MMUT | c.626dup (p.Lys210Ter)
| ClinVar dbSNP |
6 | g.49457819G>A | CA3847083 | MMUT | c.625C>T (p.Pro209Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457819G>C | CA364404328 | MMUT | c.625C>G (p.Pro209Ala)
| |
6 | g.49457819G= | CA1627395242 | MMUT | c.625C= (p.Pro209=)
| |
6 | g.49457819G>T | CA364404327 | MMUT | c.625C>A (p.Pro209Thr)
| |
6 | g.49457820T>A | CA450608806 | MMUT | c.624A>T (p.Val208=)
| |
6 | g.49457820T>C | CA450608807 | MMUT | c.624A>G (p.Val208=)
| gnomAD v4 |
6 | g.49457820T>G | CA450608808 | MMUT | c.624A>C (p.Val208=)
| |
6 | g.49457820_49457821del | CA2578675208 | MMUT | c.623_624del (p.Val208AlafsTer2)
| gnomAD v4 |
6 | g.49457821A>C | CA364404329 | MMUT | c.623T>G (p.Val208Gly)
| |
6 | g.49457821A>G | CA364404331 | MMUT | c.623T>C (p.Val208Ala)
| COSMIC |
6 | g.49457821A>T | CA364404330 | MMUT | c.623T>A (p.Val208Glu)
| |
6 | g.49457821_49457822delinsAC | CA1627395246 | MMUT | c.622_623delinsGT (p.Val208=)
| |
6 | g.49457822del | CA915944263 | MMUT | c.622del (p.Val208TyrfsTer15)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457822C>A | CA364404332 | MMUT | c.622G>T (p.Val208Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457822C= | CA1627395253 | MMUT | c.622G= (p.Val208=)
| |
6 | g.49457822C>G | CA364404333 | MMUT | c.622G>C (p.Val208Leu)
| |
6 | g.49457822C>T | CA364404334 | MMUT | c.622G>A (p.Val208Ile)
| |
6 | g.49457823A>C | CA450608809 | MMUT | c.621T>G (p.Gly207=)
| ClinVar dbSNP |
6 | g.49457823A>G | CA450608810 | MMUT | c.621T>C (p.Gly207=)
| |
6 | g.49457823A>T | CA450608811 | MMUT | c.621T>A (p.Gly207=)
| |
6 | g.49457824C>A | CA3847084 | MMUT | c.620G>T (p.Gly207Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457824C= | CA1627395256 | MMUT | c.620G= (p.Gly207=)
| |
6 | g.49457824C>G | CA364404335 | MMUT | c.620G>C (p.Gly207Ala)
| |
6 | g.49457824C>T | CA364404336 | MMUT | c.620G>A (p.Gly207Asp)
| gnomAD v4 |
6 | g.49457825C>A | CA364404337 | MMUT | c.619G>T (p.Gly207Cys)
| |
6 | g.49457825C= | CA1627395257 | MMUT | c.619G= (p.Gly207=)
| |
6 | g.49457825C>G | CA3847085 | MMUT | c.619G>C (p.Gly207Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457825C>T | CA364404338 | MMUT | c.619G>A (p.Gly207Ser)
| gnomAD v4 |
6 | g.49457826T>A | CA364404339 | MMUT | c.618A>T (p.Gln206His)
| |
6 | g.49457826T>C | CA450608812 | MMUT | c.618A>G (p.Gln206=)
| |
6 | g.49457826T>G | CA364404340 | MMUT | c.618A>C (p.Gln206His)
| |
6 | g.49457827T>A | CA364404343 | MMUT | c.617A>T (p.Gln206Leu)
| |
6 | g.49457827T>C | CA364404342 | MMUT | c.617A>G (p.Gln206Arg)
| |
6 | g.49457827T>G | CA364404341 | MMUT | c.617A>C (p.Gln206Pro)
| |
6 | g.49457828G>A | CA364404344 | MMUT | c.616C>T (p.Gln206Ter)
| |
6 | g.49457828G>C | CA364404345 | MMUT | c.616C>G (p.Gln206Glu)
| |
6 | g.49457828G>T | CA364404346 | MMUT | c.616C>A (p.Gln206Lys)
| |
6 | g.49457828_49457831delinsGTTC | CA1627395258 | MMUT | c.613_616delinsGAAC (p.Glu205=)
| |
6 | g.49457829T>A | CA364404347 | MMUT | c.615A>T (p.Glu205Asp)
| |
6 | g.49457829T>C | CA3847086 | MMUT | c.615A>G (p.Glu205=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457829T>G | CA364404348 | MMUT | c.615A>C (p.Glu205Asp)
| |
6 | g.49457829T= | CA1627395263 | MMUT | c.615A= (p.Glu205=)
| |
6 | g.49457833_49457835del | CA10575880 | MMUT | c.613_615del (p.Glu205del)
| ClinVar dbSNP |
6 | g.49457830T>A | CA364404349 | MMUT | c.614A>T (p.Glu205Val)
| |
6 | g.49457830T>C | CA364404350 | MMUT | c.614A>G (p.Glu205Gly)
| |
6 | g.49457830T>G | CA364404351 | MMUT | c.614A>C (p.Glu205Ala)
| |
6 | g.49457831C>A | CA364404352 | MMUT | c.613G>T (p.Glu205Ter)
| COSMIC |
6 | g.49457831C>G | CA364404353 | MMUT | c.613G>C (p.Glu205Gln)
| |
6 | g.49457831C>T | CA364404354 | MMUT | c.613G>A (p.Glu205Lys)
| ClinVar gnomAD v4 |
6 | g.49457832T>A | CA364404355 | MMUT | c.612A>T (p.Glu204Asp)
| |
6 | g.49457832T>C | CA450608813 | MMUT | c.612A>G (p.Glu204=)
| |
6 | g.49457832T>G | CA364404356 | MMUT | c.612A>C (p.Glu204Asp)
| |
6 | g.49457833T>A | CA364404357 | MMUT | c.611A>T (p.Glu204Val)
| |
6 | g.49457833T>C | CA364404358 | MMUT | c.611A>G (p.Glu204Gly)
| |
6 | g.49457833T>G | CA364404359 | MMUT | c.611A>C (p.Glu204Ala)
| |
6 | g.49457834C>A | CA364404360 | MMUT | c.610G>T (p.Glu204Ter)
| gnomAD v4 |
6 | g.49457834C= | CA1627395264 | MMUT | c.610G= (p.Glu204=)
| |
6 | g.49457834C>G | CA364404361 | MMUT | c.610G>C (p.Glu204Gln)
| |
6 | g.49457834C>T | CA364404362 | MMUT | c.610G>A (p.Glu204Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457835T>A | CA450608816 | MMUT | c.609A>T (p.Gly203=)
| |
6 | g.49457835T>C | CA450608814 | MMUT | c.609A>G (p.Gly203=)
| dbSNP |
6 | g.49457835T>G | CA450608815 | MMUT | c.609A>C (p.Gly203=)
| |
6 | g.49457835T= | CA1627395265 | MMUT | c.609A= (p.Gly203=)
| |
6 | g.49457836C>A | CA364404363 | MMUT | c.608G>T (p.Gly203Val)
| |
6 | g.49457836C>G | CA364404364 | MMUT | c.608G>C (p.Gly203Ala)
| |
6 | g.49457836C>T | CA364404365 | MMUT | c.608G>A (p.Gly203Glu)
| |
6 | g.49457837C>A | CA364404366 | MMUT | c.607G>T (p.Gly203Ter)
| |
6 | g.49457837C= | CA1627395266 | MMUT | c.607G= (p.Gly203=)
| |
6 | g.49457837C>G | CA364404367 | MMUT | c.607G>C (p.Gly203Arg)
| |
6 | g.49457837C>T | CA347872 | MMUT | c.607G>A (p.Gly203Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457838A>C | CA450608819 | MMUT | c.606T>G (p.Thr202=)
| |
6 | g.49457838A>G | CA450608818 | MMUT | c.606T>C (p.Thr202=)
| |
6 | g.49457838A>T | CA450608817 | MMUT | c.606T>A (p.Thr202=)
| |
6 | g.49457839G>A | CA3847087 | MMUT | c.605C>T (p.Thr202Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457839G>C | CA364404369 | MMUT | c.605C>G (p.Thr202Ser)
| |
6 | g.49457839G= | CA1627395267 | MMUT | c.605C= (p.Thr202=)
| |
6 | g.49457839G>T | CA364404368 | MMUT | c.605C>A (p.Thr202Asn)
| |
6 | g.49457840T>A | CA364404370 | MMUT | c.604A>T (p.Thr202Ser)
| |
6 | g.49457840T>C | CA364404371 | MMUT | c.604A>G (p.Thr202Ala)
| |
6 | g.49457840T>G | CA364404372 | MMUT | c.604A>C (p.Thr202Pro)
| |
6 | g.49457841del | CA2578675209 | MMUT | c.604del (p.Thr202LeufsTer21)
| |
6 | g.49457841T>A | CA450608820 | MMUT | c.603A>T (p.Val201=)
| |
6 | g.49457841T>C | CA450608822 | MMUT | c.603A>G (p.Val201=)
| gnomAD v4 |
6 | g.49457841T>G | CA450608821 | MMUT | c.603A>C (p.Val201=)
| |
6 | g.49457842A>C | CA364404373 | MMUT | c.602T>G (p.Val201Gly)
| |
6 | g.49457842A>G | CA364404374 | MMUT | c.602T>C (p.Val201Ala)
| |
6 | g.49457842A>T | CA364404375 | MMUT | c.602T>A (p.Val201Glu)
| |
6 | g.49457843C>A | CA364404376 | MMUT | c.601G>T (p.Val201Leu)
| dbSNP gnomAD v4 |
6 | g.49457843C= | CA1627395268 | MMUT | c.601G= (p.Val201=)
| |
6 | g.49457843C>G | CA364404378 | MMUT | c.601G>C (p.Val201Leu)
| |
6 | g.49457843C>T | CA364404377 | MMUT | c.601G>A (p.Val201Ile)
| |
6 | g.49457844T>A | CA450608823 | MMUT | c.600A>T (p.Ile200=)
| |
6 | g.49457844T>C | CA364404379 | MMUT | c.600A>G (p.Ile200Met)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457844T>G | CA450608824 | MMUT | c.600A>C (p.Ile200=)
| |
6 | g.49457844T= | CA1627395269 | MMUT | c.600A= (p.Ile200=)
| |
6 | g.49457845A>C | CA364404380 | MMUT | c.599T>G (p.Ile200Arg)
| |
6 | g.49457845A>G | CA364404381 | MMUT | c.599T>C (p.Ile200Thr)
| ClinVar |
6 | g.49457845A>T | CA364404382 | MMUT | c.599T>A (p.Ile200Lys)
| |
6 | g.49457846T>A | CA364404383 | MMUT | c.598A>T (p.Ile200Leu)
| |
6 | g.49457846T>C | CA3847088 | MMUT | c.598A>G (p.Ile200Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457846T>G | CA364404384 | MMUT | c.598A>C (p.Ile200Leu)
| |
6 | g.49457846T= | CA1627395270 | MMUT | c.598A= (p.Ile200=)
| |
6 | g.49457847A= | CA1627395271 | MMUT | c.597T= (p.Phe199=)
| |
6 | g.49457847A>C | CA364404385 | MMUT | c.597T>G (p.Phe199Leu)
| |
6 | g.49457847A>G | CA450608825 | MMUT | c.597T>C (p.Phe199=)
| |
6 | g.49457847A>T | CA364404386 | MMUT | c.597T>A (p.Phe199Leu)
| dbSNP |
6 | g.49457848A>C | CA364404387 | MMUT | c.596T>G (p.Phe199Cys)
| |
6 | g.49457848A>G | CA364404389 | MMUT | c.596T>C (p.Phe199Ser)
| |
6 | g.49457848A>T | CA364404388 | MMUT | c.596T>A (p.Phe199Tyr)
| |
6 | g.49457849A>C | CA364404390 | MMUT | c.595T>G (p.Phe199Val)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457849A>G | CA364404391 | MMUT | c.595T>C (p.Phe199Leu)
| |
6 | g.49457849A>T | CA364404392 | MMUT | c.595T>A (p.Phe199Ile)
| |
6 | g.49457850A>C | CA364404393 | MMUT | c.594T>G (p.Asn198Lys)
| |
6 | g.49457850A>G | CA450608826 | MMUT | c.594T>C (p.Asn198=)
| |
6 | g.49457850A>T | CA364404394 | MMUT | c.594T>A (p.Asn198Lys)
| |
6 | g.49457851T>A | CA364404395 | MMUT | c.593A>T (p.Asn198Ile)
| |
6 | g.49457851T>C | CA364404396 | MMUT | c.593A>G (p.Asn198Ser)
| |
6 | g.49457851T>G | CA364404397 | MMUT | c.593A>C (p.Asn198Thr)
| |
6 | g.49457853del | CA2695206685 | MMUT | c.593del (p.Asn198IlefsTer3)
| |
6 | g.49457852T>A | CA364404398 | MMUT | c.592A>T (p.Asn198Tyr)
| |
6 | g.49457852T>C | CA364404399 | MMUT | c.592A>G (p.Asn198Asp)
| |
6 | g.49457852T>G | CA364404400 | MMUT | c.592A>C (p.Asn198His)
| |
6 | g.49457853T>A | CA450608827 | MMUT | c.591A>T (p.Ala197=)
| |
6 | g.49457853T>C | CA450608828 | MMUT | c.591A>G (p.Ala197=)
| |
6 | g.49457853T>G | CA450608829 | MMUT | c.591A>C (p.Ala197=)
| |
6 | g.49457854G>A | CA364404401 | MMUT | c.590C>T (p.Ala197Val)
| dbSNP |
6 | g.49457854G>C | CA364404403 | MMUT | c.590C>G (p.Ala197Gly)
| |
6 | g.49457854G= | CA1627395272 | MMUT | c.590C= (p.Ala197=)
| |
6 | g.49457854G>T | CA364404402 | MMUT | c.590C>A (p.Ala197Glu)
| ClinVar |
6 | g.49457855C>A | CA364404404 | MMUT | c.589G>T (p.Ala197Ser)
| |
6 | g.49457855C>G | CA364404405 | MMUT | c.589G>C (p.Ala197Pro)
| |
6 | g.49457855C>T | CA364404406 | MMUT | c.589G>A (p.Ala197Thr)
| |
6 | g.49457856A= | CA1627395273 | MMUT | c.588T= (p.Leu196=)
| |
6 | g.49457856A>C | CA450608830 | MMUT | c.588T>G (p.Leu196=)
| |
6 | g.49457856A>G | CA450608831 | MMUT | c.588T>C (p.Leu196=)
| dbSNP |
6 | g.49457856A>T | CA450608832 | MMUT | c.588T>A (p.Leu196=)
| |
6 | g.49457857A>C | CA364404407 | MMUT | c.587T>G (p.Leu196Arg)
| |
6 | g.49457857A>G | CA364404408 | MMUT | c.587T>C (p.Leu196Pro)
| |
6 | g.49457857A>T | CA364404409 | MMUT | c.587T>A (p.Leu196His)
| |
6 | g.49457858G>A | CA364404410 | MMUT | c.586C>T (p.Leu196Phe)
| |
6 | g.49457858G>C | CA364404411 | MMUT | c.586C>G (p.Leu196Val)
| |
6 | g.49457858G= | CA1627395274 | MMUT | c.586C= (p.Leu196=)
| |
6 | g.49457858G>T | CA138799757 | MMUT | c.586C>A (p.Leu196Ile)
| dbSNP |
6 | g.49457859A>C | CA450608833 | MMUT | c.585T>G (p.Val195=)
| |
6 | g.49457859A>G | CA450608834 | MMUT | c.585T>C (p.Val195=)
| |
6 | g.49457859A>T | CA450608835 | MMUT | c.585T>A (p.Val195=)
| |
6 | g.49457860A>C | CA364404413 | MMUT | c.584T>G (p.Val195Gly)
| |
6 | g.49457860A>G | CA364404414 | MMUT | c.584T>C (p.Val195Ala)
| |
6 | g.49457860A>T | CA364404412 | MMUT | c.584T>A (p.Val195Asp)
| |
6 | g.49457861C>A | CA364404415 | MMUT | c.583G>T (p.Val195Phe)
| |
6 | g.49457861C>G | CA364404416 | MMUT | c.583G>C (p.Val195Leu)
| gnomAD v4 |
6 | g.49457861C>T | CA364404417 | MMUT | c.583G>A (p.Val195Ile)
| gnomAD v4 |
6 | g.49457862T>A | CA450608838 | MMUT | c.582A>T (p.Pro194=)
| |
6 | g.49457862T>C | CA450608837 | MMUT | c.582A>G (p.Pro194=)
| |
6 | g.49457862T>G | CA450608836 | MMUT | c.582A>C (p.Pro194=)
| |
6 | g.49457863G>A | CA364404418 | MMUT | c.581C>T (p.Pro194Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457863G>C | CA364404419 | MMUT | c.581C>G (p.Pro194Arg)
| |
6 | g.49457863G= | CA1627395275 | MMUT | c.581C= (p.Pro194=)
| |
6 | g.49457863G>T | CA364404420 | MMUT | c.581C>A (p.Pro194Gln)
| |
6 | g.49457864G>A | CA364404421 | MMUT | c.580C>T (p.Pro194Ser)
| gnomAD v4 |
6 | g.49457864G>C | CA3847089 | MMUT | c.580C>G (p.Pro194Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457864G= | CA1627395276 | MMUT | c.580C= (p.Pro194=)
| |
6 | g.49457864G>T | CA364404422 | MMUT | c.580C>A (p.Pro194Thr)
| |
6 | g.49457865A>C | CA364404423 | MMUT | c.579T>G (p.Ile193Met)
| |
6 | g.49457865A>G | CA450608839 | MMUT | c.579T>C (p.Ile193=)
| |
6 | g.49457865A>T | CA450608840 | MMUT | c.579T>A (p.Ile193=)
| |
6 | g.49457866A>C | CA364404424 | MMUT | c.578T>G (p.Ile193Ser)
| |
6 | g.49457866A>G | CA364404425 | MMUT | c.578T>C (p.Ile193Thr)
| |
6 | g.49457866A>T | CA364404426 | MMUT | c.578T>A (p.Ile193Asn)
| |
6 | g.49457867T>A | CA364404427 | MMUT | c.577A>T (p.Ile193Phe)
| |
6 | g.49457867T>C | CA364404429 | MMUT | c.577A>G (p.Ile193Val)
| |
6 | g.49457867T>G | CA364404428 | MMUT | c.577A>C (p.Ile193Leu)
| |
6 | g.49457868A>C | CA450608583 | MMUT | c.576T>G (p.Val192=)
| |
6 | g.49457868A>G | CA450608585 | MMUT | c.576T>C (p.Val192=)
| |
6 | g.49457868A>T | CA450608584 | MMUT | c.576T>A (p.Val192=)
| |
6 | g.49457869A>C | CA364404430 | MMUT | c.575T>G (p.Val192Gly)
| |
6 | g.49457869A>G | CA364404431 | MMUT | c.575T>C (p.Val192Ala)
| |
6 | g.49457869A>T | CA364404432 | MMUT | c.575T>A (p.Val192Asp)
| |
6 | g.49457870C>A | CA364404433 | MMUT | c.574G>T (p.Val192Phe)
| |
6 | g.49457870C= | CA1627395277 | MMUT | c.574G= (p.Val192=)
| |
6 | g.49457870C>G | CA364404434 | MMUT | c.574G>C (p.Val192Leu)
| |
6 | g.49457870C>T | CA364404435 | MMUT | c.574G>A (p.Val192Ile)
| dbSNP |
6 | g.49457871T>A | CA450608586 | MMUT | c.573A>T (p.Ala191=)
| |
6 | g.49457871T>C | CA138799761 | MMUT | c.573A>G (p.Ala191=)
| ClinVar dbSNP |
6 | g.49457871T>G | CA450608587 | MMUT | c.573A>C (p.Ala191=)
| ClinVar dbSNP |
6 | g.49457871T= | CA1627395278 | MMUT | c.573A= (p.Ala191=)
| |
6 | g.49457872G>A | CA364404436 | MMUT | c.572C>T (p.Ala191Val)
| ClinVar dbSNP |
6 | g.49457872G>C | CA364404437 | MMUT | c.572C>G (p.Ala191Gly)
| gnomAD v4 |
6 | g.49457872G= | CA1627395279 | MMUT | c.572C= (p.Ala191=)
| |
6 | g.49457872G>T | CA312777 | MMUT | c.572C>A (p.Ala191Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457873C>A | CA364404438 | MMUT | c.571G>T (p.Ala191Ser)
| ClinVar |
6 | g.49457873C= | CA1627395281 | MMUT | c.571G= (p.Ala191=)
| |
6 | g.49457873C>G | CA364404439 | MMUT | c.571G>C (p.Ala191Pro)
| |
6 | g.49457873C>T | CA364404440 | MMUT | c.571G>A (p.Ala191Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457874T>A | CA450608588 | MMUT | c.570A>T (p.Gly190=)
| |
6 | g.49457874T>C | CA450608589 | MMUT | c.570A>G (p.Gly190=)
| dbSNP gnomAD v4 |
6 | g.49457874T>G | CA450608590 | MMUT | c.570A>C (p.Gly190=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457874T= | CA1627395282 | MMUT | c.570A= (p.Gly190=)
| |
6 | g.49457875C>A | CA364404442 | MMUT | c.569G>T (p.Gly190Val)
| |
6 | g.49457875C>G | CA364404443 | MMUT | c.569G>C (p.Gly190Ala)
| |
6 | g.49457875C>T | CA364404441 | MMUT | c.569G>A (p.Gly190Glu)
| |
6 | g.49457876C>A | CA364404444 | MMUT | c.568G>T (p.Gly190Ter)
| |
6 | g.49457876C>G | CA364404445 | MMUT | c.568G>C (p.Gly190Arg)
| |
6 | g.49457876C>T | CA364404446 | MMUT | c.568G>A (p.Gly190Arg)
| |
6 | g.49457877A= | CA1627395283 | MMUT | c.567T= (p.Asn189=)
| |
6 | g.49457877A>C | CA364404447 | MMUT | c.567T>G (p.Asn189Lys)
| ClinVar dbSNP |
6 | g.49457877A>G | CA450608591 | MMUT | c.567T>C (p.Asn189=)
| dbSNP |
6 | g.49457877A>T | CA364404448 | MMUT | c.567T>A (p.Asn189Lys)
| |
6 | g.49457877dup | CA2695206686 | MMUT | c.567dup (p.Gly190TrpfsTer21)
| |
6 | g.49457878T>A | CA3847091 | MMUT | c.566A>T (p.Asn189Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457878T>C | CA3847090 | MMUT | c.566A>G (p.Asn189Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457878T>G | CA364404449 | MMUT | c.566A>C (p.Asn189Thr)
| |
6 | g.49457878T= | CA1627395284 | MMUT | c.566A= (p.Asn189=)
| |
6 | g.49457879T>A | CA364404450 | MMUT | c.565A>T (p.Asn189Tyr)
| |
6 | g.49457879T>C | CA364404451 | MMUT | c.565A>G (p.Asn189Asp)
| |
6 | g.49457879T>G | CA364404452 | MMUT | c.565A>C (p.Asn189His)
| |
6 | g.49457880C>A | CA364404453 | MMUT | c.564G>T (p.Met188Ile)
| |
6 | g.49457880C>G | CA364404454 | MMUT | c.564G>C (p.Met188Ile)
| gnomAD v4 |
6 | g.49457880C>T | CA364404455 | MMUT | c.564G>A (p.Met188Ile)
| |
6 | g.49457881A>C | CA364404458 | MMUT | c.563T>G (p.Met188Arg)
| gnomAD v4 |
6 | g.49457881A>G | CA364404456 | MMUT | c.563T>C (p.Met188Thr)
| |
6 | g.49457881A>T | CA364404457 | MMUT | c.563T>A (p.Met188Lys)
| |
6 | g.49457882T>A | CA364404459 | MMUT | c.562A>T (p.Met188Leu)
| |
6 | g.49457882T>C | CA364404460 | MMUT | c.562A>G (p.Met188Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457882T>G | CA364404461 | MMUT | c.562A>C (p.Met188Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457882T= | CA1627395285 | MMUT | c.562A= (p.Met188=)
| |
6 | g.49457883A= | CA1627395286 | MMUT | c.561T= (p.Thr187=)
| |
6 | g.49457883A>C | CA3847092 | MMUT | c.561T>G (p.Thr187=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457883A>G | CA450608592 | MMUT | c.561T>C (p.Thr187=)
| |
6 | g.49457883A>T | CA450608593 | MMUT | c.561T>A (p.Thr187=)
| |
6 | g.49457884G>A | CA364404462 | MMUT | c.560C>T (p.Thr187Ile)
| |
6 | g.49457884G>C | CA10575881 | MMUT | c.560C>G (p.Thr187Ser)
| ClinVar dbSNP |
6 | g.49457884G= | CA1627395287 | MMUT | c.560C= (p.Thr187=)
| |
6 | g.49457884G>T | CA364404463 | MMUT | c.560C>A (p.Thr187Asn)
| |
6 | g.49457885T>A | CA364404464 | MMUT | c.559A>T (p.Thr187Ser)
| |
6 | g.49457885T>C | CA364404465 | MMUT | c.559A>G (p.Thr187Ala)
| |
6 | g.49457885T>G | CA364404466 | MMUT | c.559A>C (p.Thr187Pro)
| |
6 | g.49457886C>A | CA364404467 | MMUT | c.558G>T (p.Met186Ile)
| |
6 | g.49457886C>G | CA364404468 | MMUT | c.558G>C (p.Met186Ile)
| |
6 | g.49457886C>T | CA364404469 | MMUT | c.558G>A (p.Met186Ile)
| |
6 | g.49457887A>C | CA364404470 | MMUT | c.557T>G (p.Met186Arg)
| |
6 | g.49457887A>G | CA364404472 | MMUT | c.557T>C (p.Met186Thr)
| COSMIC |
6 | g.49457887A>T | CA364404471 | MMUT | c.557T>A (p.Met186Lys)
| |
6 | g.49457888T>A | CA364404473 | MMUT | c.556A>T (p.Met186Leu)
| gnomAD v4 |
6 | g.49457888T>C | CA3847093 | MMUT | c.556A>G (p.Met186Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457888T>G | CA364404474 | MMUT | c.556A>C (p.Met186Leu)
| |
6 | g.49457888T= | CA1627395292 | MMUT | c.556A= (p.Met186=)
| |
6 | g.49457889G>A | CA450608595 | MMUT | c.555C>T (p.Ser185=)
| |
6 | g.49457889G>C | CA450608596 | MMUT | c.555C>G (p.Ser185=)
| |
6 | g.49457889G>T | CA450608594 | MMUT | c.555C>A (p.Ser185=)
| |
6 | g.49457890G>A | CA364404475 | MMUT | c.554C>T (p.Ser185Phe)
| |
6 | g.49457890G>C | CA364404476 | MMUT | c.554C>G (p.Ser185Cys)
| |
6 | g.49457890G>T | CA364404477 | MMUT | c.554C>A (p.Ser185Tyr)
| |
6 | g.49457891A>C | CA364404478 | MMUT | c.553T>G (p.Ser185Ala)
| |
6 | g.49457891A>G | CA364404479 | MMUT | c.553T>C (p.Ser185Pro)
| |
6 | g.49457891A>T | CA364404480 | MMUT | c.553T>A (p.Ser185Thr)
| |
6 | g.49457892_49457893dup | CA2695206687 | MMUT | c.552_553dup (p.Ser185PhefsTer3)
| |
6 | g.49457892A>C | CA450608599 | MMUT | c.552T>G (p.Val184=)
| |
6 | g.49457892A>G | CA450608598 | MMUT | c.552T>C (p.Val184=)
| |
6 | g.49457892A>T | CA450608597 | MMUT | c.552T>A (p.Val184=)
| |
6 | g.49457893A>C | CA364404481 | MMUT | c.551T>G (p.Val184Gly)
| |
6 | g.49457893A>G | CA364404482 | MMUT | c.551T>C (p.Val184Ala)
| |
6 | g.49457893A>T | CA364404483 | MMUT | c.551T>A (p.Val184Asp)
| |
6 | g.49457894C>A | CA364404486 | MMUT | c.550G>T (p.Val184Phe)
| |
6 | g.49457894C= | CA1627395298 | MMUT | c.550G= (p.Val184=)
| |
6 | g.49457894C>G | CA364404485 | MMUT | c.550G>C (p.Val184Leu)
| |
6 | g.49457894C>T | CA364404484 | MMUT | c.550G>A (p.Val184Ile)
| dbSNP gnomAD v4 |
6 | g.49457895T>A | CA450608600 | MMUT | c.549A>T (p.Ser183=)
| |
6 | g.49457895T>C | CA450608602 | MMUT | c.549A>G (p.Ser183=)
| |
6 | g.49457895T>G | CA450608601 | MMUT | c.549A>C (p.Ser183=)
| |