6 | g.49457828_49457831delinsGTTC | CA1627395258 | MMUT | c.613_616delinsGAAC (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=)
| |
6 | g.49457896G>A | CA364404487 | MMUT | c.548C>T (p.Ser183Leu)
| |
6 | g.49457896G>C | CA364404488 | MMUT | c.548C>G (p.Ser183Ter)
| |
6 | g.49457896G>T | CA364404489 | MMUT | c.548C>A (p.Ser183Ter)
| |
6 | g.49457897A>C | CA364404490 | MMUT | c.547T>G (p.Ser183Ala)
| |
6 | g.49457897A>G | CA364404491 | MMUT | c.547T>C (p.Ser183Pro)
| |
6 | g.49457897A>T | CA364404492 | MMUT | c.547T>A (p.Ser183Thr)
| |
6 | g.49457898C>A | CA364404493 | MMUT | c.546G>T (p.Met182Ile)
| |
6 | g.49457898C= | CA1627395299 | MMUT | c.546G= (p.Met182=)
| |
6 | g.49457898C>G | CA3847094 | MMUT | c.546G>C (p.Met182Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457898C>T | CA364404494 | MMUT | c.546G>A (p.Met182Ile)
| gnomAD v4 |
6 | g.49457899A= | CA1627395302 | MMUT | c.545T= (p.Met182=)
| |
6 | g.49457899A>C | CA3847096 | MMUT | c.545T>G (p.Met182Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49457899A>G | CA364404495 | MMUT | c.545T>C (p.Met182Thr)
| |
6 | g.49457899A>T | CA364404496 | MMUT | c.545T>A (p.Met182Lys)
| |
6 | g.49457899_49457900delinsAT | CA1627395303 | MMUT | c.544_545delinsAT (p.Met182=)
| |
6 | g.49457900T>A | CA364404498 | MMUT | c.544A>T (p.Met182Leu)
| |
6 | g.49457900T>C | CA364404499 | MMUT | c.544A>G (p.Met182Val)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457900T>G | CA364404497 | MMUT | c.544A>C (p.Met182Leu)
| |
6 | g.49457900T= | CA1627395306 | MMUT | c.544A= (p.Met182=)
| |
6 | g.49457905dup | CA3847095 | MMUT | c.544dup (p.Met182AsnfsTer29)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.49457905del | CA825482676 | MMUT | c.544del (p.Met182CysfsTer5)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457900_49457901insA | CA450608603 | MMUT | c.543_544insT (p.Met182TyrfsTer29)
| |
6 | g.49457901T>A | CA364404501 | MMUT | c.543A>T (p.Lys181Asn)
| gnomAD v4 |
6 | g.49457901T>C | CA450608604 | MMUT | c.543A>G (p.Lys181=)
| |
6 | g.49457901T>G | CA364404500 | MMUT | c.543A>C (p.Lys181Asn)
| |
6 | g.49457902T>A | CA364404503 | MMUT | c.542A>T (p.Lys181Ile)
| |
6 | g.49457902T>C | CA364404502 | MMUT | c.542A>G (p.Lys181Arg)
| |
6 | g.49457902T>G | CA364404504 | MMUT | c.542A>C (p.Lys181Thr)
| |
6 | g.49457903T>A | CA364404505 | MMUT | c.541A>T (p.Lys181Ter)
| |
6 | g.49457903T>C | CA364404506 | MMUT | c.541A>G (p.Lys181Glu)
| |
6 | g.49457903T>G | CA364404507 | MMUT | c.541A>C (p.Lys181Gln)
| |
6 | g.49457904T>A | CA364404508 | MMUT | c.540A>T (p.Glu180Asp)
| |
6 | g.49457904T>C | CA138799836 | MMUT | c.540A>G (p.Glu180=)
| dbSNP gnomAD v4 |
6 | g.49457904T>G | CA364404509 | MMUT | c.540A>C (p.Glu180Asp)
| COSMIC |
6 | g.49457904T= | CA1627395310 | MMUT | c.540A= (p.Glu180=)
| |
6 | g.49457905T>A | CA364404510 | MMUT | c.539A>T (p.Glu180Val)
| |
6 | g.49457905T>C | CA364404511 | MMUT | c.539A>G (p.Glu180Gly)
| |
6 | g.49457905T>G | CA364404512 | MMUT | c.539A>C (p.Glu180Ala)
| |
6 | g.49457906C>A | CA364404513 | MMUT | c.538G>T (p.Glu180Ter)
| |
6 | g.49457906C>G | CA364404514 | MMUT | c.538G>C (p.Glu180Gln)
| |
6 | g.49457906C>T | CA364404515 | MMUT | c.538G>A (p.Glu180Lys)
| |
6 | g.49457907T>A | CA364404516 | MMUT | c.537A>T (p.Leu179Phe)
| |
6 | g.49457907T>C | CA450608605 | MMUT | c.537A>G (p.Leu179=)
| |
6 | g.49457907T>G | CA364404517 | MMUT | c.537A>C (p.Leu179Phe)
| |
6 | g.49457908A>C | CA364404518 | MMUT | c.536T>G (p.Leu179Ter)
| |
6 | g.49457908A>G | CA364404520 | MMUT | c.536T>C (p.Leu179Ser)
| |
6 | g.49457908A>T | CA364404519 | MMUT | c.536T>A (p.Leu179Ter)
| |
6 | g.49457909A>C | CA364404521 | MMUT | c.535T>G (p.Leu179Val)
| |
6 | g.49457909A>G | CA450608606 | MMUT | c.535T>C (p.Leu179=)
| |
6 | g.49457909A>T | CA364404522 | MMUT | c.535T>A (p.Leu179Ile)
| |
6 | g.49457910A= | CA1627395313 | MMUT | c.534T= (p.Pro178=)
| |
6 | g.49457910A>C | CA450608607 | MMUT | c.534T>G (p.Pro178=)
| ClinVar dbSNP gnomAD v4 |
6 | g.49457910A>G | CA450608609 | MMUT | c.534T>C (p.Pro178=)
| |
6 | g.49457910A>T | CA450608608 | MMUT | c.534T>A (p.Pro178=)
| |
6 | g.49457910_49457911delinsAG | CA1627395311 | MMUT | c.533_534delinsCT (p.Pro178=)
| |
6 | g.49457911G>A | CA364404523 | MMUT | c.533C>T (p.Pro178Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457911G>C | CA364404524 | MMUT | c.533C>G (p.Pro178Arg)
| |
6 | g.49457911G= | CA1627395318 | MMUT | c.533C= (p.Pro178=)
| |
6 | g.49457911G>T | CA364404525 | MMUT | c.533C>A (p.Pro178His)
| |
6 | g.49457912del | CA3847097 | MMUT | c.533del (p.Pro178LeufsTer2)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457912G>A | CA3847098 | MMUT | c.532C>T (p.Pro178Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49457912G>C | CA364404526 | MMUT | c.532C>G (p.Pro178Ala)
| COSMIC |
6 | g.49457912G= | CA1627395320 | MMUT | c.532C= (p.Pro178=)
| |
6 | g.49457912G>T | CA364404527 | MMUT | c.532C>A (p.Pro178Thr)
| |
6 | g.49457913A>C | CA364404528 | MMUT | c.531T>G (p.Ile177Met)
| ClinVar |
6 | g.49457913A>G | CA450608610 | MMUT | c.531T>C (p.Ile177=)
| |
6 | g.49457913A>T | CA450608611 | MMUT | c.531T>A (p.Ile177=)
| |
6 | g.49457914A>C | CA364404530 | MMUT | c.530T>G (p.Ile177Ser)
| |
6 | g.49457914A>G | CA364404531 | MMUT | c.530T>C (p.Ile177Thr)
| |
6 | g.49457914A>T | CA364404529 | MMUT | c.530T>A (p.Ile177Asn)
| |
6 | g.49457915T>A | CA364404532 | MMUT | c.529A>T (p.Ile177Phe)
| |
6 | g.49457915T>C | CA364404533 | MMUT | c.529A>G (p.Ile177Val)
| |
6 | g.49457915T>G | CA364404534 | MMUT | c.529A>C (p.Ile177Leu)
| |
6 | g.49457916T>A | CA450608612 | MMUT | c.528A>T (p.Gly176=)
| |
6 | g.49457916T>C | CA450608614 | MMUT | c.528A>G (p.Gly176=)
| gnomAD v4 |
6 | g.49457916T>G | CA450608613 | MMUT | c.528A>C (p.Gly176=)
| |
6 | g.49457917C>A | CA364404535 | MMUT | c.527G>T (p.Gly176Val)
| |
6 | g.49457917C>G | CA364404536 | MMUT | c.527G>C (p.Gly176Ala)
| |
6 | g.49457917C>T | CA364404537 | MMUT | c.527G>A (p.Gly176Glu)
| |
6 | g.49457918C>A | CA364404540 | MMUT | c.526G>T (p.Gly176Ter)
| ClinVar |
6 | g.49457918C>G | CA364404538 | MMUT | c.526G>C (p.Gly176Arg)
| |
6 | g.49457918C>T | CA364404539 | MMUT | c.526G>A (p.Gly176Arg)
| |
6 | g.49457919A>C | CA364404541 | MMUT | c.525T>G (p.Asp175Glu)
| |
6 | g.49457919A>G | CA450608615 | MMUT | c.525T>C (p.Asp175=)
| |
6 | g.49457919A>T | CA364404542 | MMUT | c.525T>A (p.Asp175Glu)
| |
6 | g.49457920T>A | CA364404543 | MMUT | c.524A>T (p.Asp175Val)
| |
6 | g.49457920T>C | CA364404544 | MMUT | c.524A>G (p.Asp175Gly)
| |
6 | g.49457920T>G | CA364404545 | MMUT | c.524A>C (p.Asp175Ala)
| |
6 | g.49457921C>A | CA364404546 | MMUT | c.523G>T (p.Asp175Tyr)
| |
6 | g.49457921C>G | CA364404548 | MMUT | c.523G>C (p.Asp175His)
| |
6 | g.49457921C>T | CA364404547 | MMUT | c.523G>A (p.Asp175Asn)
| |
6 | g.49457922A= | CA1627395322 | MMUT | c.522T= (p.Phe174=)
| |
6 | g.49457922A>C | CA364404549 | MMUT | c.522T>G (p.Phe174Leu)
| |
6 | g.49457922A>G | CA450608616 | MMUT | c.522T>C (p.Phe174=)
| gnomAD v4 |
6 | g.49457922A>T | CA364404550 | MMUT | c.522T>A (p.Phe174Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49457923A= | CA1627395325 | MMUT | c.521T= (p.Phe174=)
| |
6 | g.49457923A>C | CA364404551 | MMUT | c.521T>G (p.Phe174Cys)
| |
6 | g.49457923A>G | CA347890 | MMUT | c.521T>C (p.Phe174Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.49457923A>T | CA364404552 | MMUT | c.521T>A (p.Phe174Tyr)
| |
6 | g.49457924A>C | CA364404553 | MMUT | c.520T>G (p.Phe174Val)
| |
6 | g.49457924A>G | CA364404554 | MMUT | c.520T>C (p.Phe174Leu)
| |
6 | g.49457924A>T | CA364404555 | MMUT | c.520T>A (p.Phe174Ile)
| |
6 | g.49457925A>C | CA450608617 | MMUT | c.519T>G (p.Leu173=)
| |
6 | g.49457925A>G | CA450608618 | MMUT | c.519T>C (p.Leu173=)
| |
6 | g.49457925A>T | CA450608619 | MMUT | c.519T>A (p.Leu173=)
| |
6 | g.49457926A>C | CA364404556 | MMUT | c.518T>G (p.Leu173Arg)
| |
6 | g.49457926A>G | CA364404557 | MMUT | c.518T>C (p.Leu173Pro)
| |
6 | g.49457926A>T | CA364404558 | MMUT | c.518T>A (p.Leu173His)
| |
6 | g.49457927G>A | CA364404561 | MMUT | c.517C>T (p.Leu173Phe)
| dbSNP |
6 | g.49457927G>C | CA364404560 | MMUT | c.517C>G (p.Leu173Val)
| |
6 | g.49457927G>T | CA364404559 | MMUT | c.517C>A (p.Leu173Ile)
| |
6 | g.49457928A>C | CA364404562 | MMUT | c.516T>G (p.Ile172Met)
| |
6 | g.49457928A>G | CA450608620 | MMUT | c.516T>C (p.Ile172=)
| |
6 | g.49457928A>T | CA450608621 | MMUT | c.516T>A (p.Ile172=)
| |
6 | g.49457929A>C | CA364404565 | MMUT | c.515T>G (p.Ile172Ser)
| |
6 | g.49457929A>G | CA364404563 | MMUT | c.515T>C (p.Ile172Thr)
| |
6 | g.49457929A>T | CA364404564 | MMUT | c.515T>A (p.Ile172Asn)
| |
6 | g.49457929_49457930delinsAT | CA1627395329 | MMUT | c.514_515delinsAT (p.Ile172=)
| |
6 | g.49457930T>A | CA364404566 | MMUT | c.514A>T (p.Ile172Phe)
| |
6 | g.49457930T>C | CA364404567 | MMUT | c.514A>G (p.Ile172Val)
| |
6 | g.49457930T>G | CA364404568 | MMUT | c.514A>C (p.Ile172Leu)
| |
6 | g.49457933del | CA450608622 | MMUT | c.514del (p.Ile172PhefsTer8)
| ClinVar dbSNP gnomAD v4 COSMIC |