UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.33850981A>C | CA408920456 | CHMP4B | c.398A>C (p.Gln133Pro) | |
| 20 | g.33850981A>G | CA408920457 | CHMP4B | c.398A>G (p.Gln133Arg) | |
| 20 | g.33850981A>T | CA408920458 | CHMP4B | c.398A>T (p.Gln133Leu) | |
| 20 | g.33850982G>A | CA510407219 | CHMP4B | c.399G>A (p.Gln133=) | gnomAD v4 |
| 20 | g.33850982G>C | CA408920459 | CHMP4B | c.399G>C (p.Gln133His) | |
| 20 | g.33850982G>T | CA408920460 | CHMP4B | c.399G>T (p.Gln133His) | |
| 20 | g.33850983G>A | CA408920461 | CHMP4B | c.400G>A (p.Asp134Asn) | |
| 20 | g.33850983G>C | CA408920462 | CHMP4B | c.400G>C (p.Asp134His) | |
| 20 | g.33850983G>T | CA408920463 | CHMP4B | c.400G>T (p.Asp134Tyr) | |
| 20 | g.33850984A>C | CA408920464 | CHMP4B | c.401A>C (p.Asp134Ala) | |
| 20 | g.33850984A>G | CA408920465 | CHMP4B | c.401A>G (p.Asp134Gly) | |
| 20 | g.33850984A>T | CA408920466 | CHMP4B | c.401A>T (p.Asp134Val) | |
| 20 | g.33850985C>A | CA408920467 | CHMP4B | c.402C>A (p.Asp134Glu) | |
| 20 | g.33850985C= | CA2360938939 | CHMP4B | c.402C= (p.Asp134=) | |
| 20 | g.33850985C>G | CA408920468 | CHMP4B | c.402C>G (p.Asp134Glu) | |
| 20 | g.33850985C>T | CA510407233 | CHMP4B | c.402C>T (p.Asp134=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.33850986A= | CA2360938940 | CHMP4B | c.403A= (p.Ile135=) | |
| 20 | g.33850986A>C | CA9819946 | CHMP4B | c.403A>C (p.Ile135Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33850986A>G | CA408920470 | CHMP4B | c.403A>G (p.Ile135Val) | |
| 20 | g.33850986A>T | CA408920469 | CHMP4B | c.403A>T (p.Ile135Phe) | |
| 20 | g.33850987T>A | CA408920471 | CHMP4B | c.404T>A (p.Ile135Asn) | |
| 20 | g.33850987T>C | CA408920472 | CHMP4B | c.404T>C (p.Ile135Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.33850987T>G | CA408920473 | CHMP4B | c.404T>G (p.Ile135Ser) | |
| 20 | g.33850987T= | CA2360938941 | CHMP4B | c.404T= (p.Ile135=) | |
| 20 | g.33850988T>A | CA510407244 | CHMP4B | c.405T>A (p.Ile135=) | |
| 20 | g.33850988T>C | CA510407245 | CHMP4B | c.405T>C (p.Ile135=) | |
| 20 | g.33850988T>G | CA408920474 | CHMP4B | c.405T>G (p.Ile135Met) | |
| 20 | g.33850989G>A | CA408920475 | CHMP4B | c.406G>A (p.Ala136Thr) | |
| 20 | g.33850989G>C | CA408920476 | CHMP4B | c.406G>C (p.Ala136Pro) | |
| 20 | g.33850989G>T | CA408920477 | CHMP4B | c.406G>T (p.Ala136Ser) | |
| 20 | g.33850990C>A | CA408920478 | CHMP4B | c.407C>A (p.Ala136Asp) | |
| 20 | g.33850990C>G | CA408920479 | CHMP4B | c.407C>G (p.Ala136Gly) | |
| 20 | g.33850990C>T | CA408920480 | CHMP4B | c.407C>T (p.Ala136Val) | |
| 20 | g.33850991T>A | CA510407258 | CHMP4B | c.408T>A (p.Ala136=) | |
| 20 | g.33850991T>C | CA510407257 | CHMP4B | c.408T>C (p.Ala136=) | |
| 20 | g.33850991T>G | CA510407256 | CHMP4B | c.408T>G (p.Ala136=) | |
| 20 | g.33850992G>A | CA408920482 | CHMP4B | c.409G>A (p.Asp137Asn) | |
| 20 | g.33850992G>C | CA408920483 | CHMP4B | c.409G>C (p.Asp137His) | dbSNP gnomAD v4 |
| 20 | g.33850992G= | CA2360938942 | CHMP4B | c.409G= (p.Asp137=) | |
| 20 | g.33850992G>T | CA408920481 | CHMP4B | c.409G>T (p.Asp137Tyr) | gnomAD v4 |
| 20 | g.33850993A>C | CA408920484 | CHMP4B | c.410A>C (p.Asp137Ala) | |
| 20 | g.33850993A>G | CA408920485 | CHMP4B | c.410A>G (p.Asp137Gly) | |
| 20 | g.33850993A>T | CA408920486 | CHMP4B | c.410A>T (p.Asp137Val) | |
| 20 | g.33850994C>A | CA408920487 | CHMP4B | c.411C>A (p.Asp137Glu) | |
| 20 | g.33850994C>G | CA408920488 | CHMP4B | c.411C>G (p.Asp137Glu) | |
| 20 | g.33850994C>T | CA510407270 | CHMP4B | c.411C>T (p.Asp137=) | |
| 20 | g.33850995C>A | CA408920490 | CHMP4B | c.412C>A (p.Gln138Lys) | |
| 20 | g.33850995C>G | CA408920492 | CHMP4B | c.412C>G (p.Gln138Glu) | |
| 20 | g.33850995C>T | CA408920493 | CHMP4B | c.412C>T (p.Gln138Ter) | |
| 20 | g.33850996A>C | CA408920494 | CHMP4B | c.413A>C (p.Gln138Pro) | |
| 20 | g.33850996A>G | CA408920495 | CHMP4B | c.413A>G (p.Gln138Arg) | |
| 20 | g.33850996A>T | CA408920496 | CHMP4B | c.413A>T (p.Gln138Leu) | |
| 20 | g.33850997G>A | CA510407280 | CHMP4B | c.414G>A (p.Gln138=) | |
| 20 | g.33850997G>C | CA408920497 | CHMP4B | c.414G>C (p.Gln138His) | |
| 20 | g.33850997G>T | CA408920498 | CHMP4B | c.414G>T (p.Gln138His) | |
| 20 | g.33850998C>A | CA408920501 | CHMP4B | c.415C>A (p.Gln139Lys) | |
| 20 | g.33850998C>G | CA408920500 | CHMP4B | c.415C>G (p.Gln139Glu) | |
| 20 | g.33850998C>T | CA408920499 | CHMP4B | c.415C>T (p.Gln139Ter) | |
| 20 | g.33850999A>C | CA408920502 | CHMP4B | c.416A>C (p.Gln139Pro) | |
| 20 | g.33850999A>G | CA408920503 | CHMP4B | c.416A>G (p.Gln139Arg) | |
| 20 | g.33850999A>T | CA408920504 | CHMP4B | c.416A>T (p.Gln139Leu) | |
| 20 | g.33851000A>C | CA408920505 | CHMP4B | c.417A>C (p.Gln139His) | |
| 20 | g.33851000A>G | CA510407292 | CHMP4B | c.417A>G (p.Gln139=) | gnomAD v4 |
| 20 | g.33851000A>T | CA408920506 | CHMP4B | c.417A>T (p.Gln139His) | |
| 20 | g.33851001G>A | CA408920507 | CHMP4B | c.418G>A (p.Glu140Lys) | |
| 20 | g.33851001G>C | CA408920508 | CHMP4B | c.418G>C (p.Glu140Gln) | |
| 20 | g.33851001G>T | CA408920509 | CHMP4B | c.418G>T (p.Glu140Ter) | |
| 20 | g.33851002A= | CA2360938943 | CHMP4B | c.419A= (p.Glu140=) | |
| 20 | g.33851002A>C | CA408920510 | CHMP4B | c.419A>C (p.Glu140Ala) | |
| 20 | g.33851002A>G | CA408920511 | CHMP4B | c.419A>G (p.Glu140Gly) | |
| 20 | g.33851002A>T | CA408920512 | CHMP4B | c.419A>T (p.Glu140Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.33851003A= | CA2360938944 | CHMP4B | c.420A= (p.Glu140=) | |
| 20 | g.33851003A>C | CA408920513 | CHMP4B | c.420A>C (p.Glu140Asp) | |
| 20 | g.33851003A>G | CA510407304 | CHMP4B | c.420A>G (p.Glu140=) | dbSNP gnomAD v4 |
| 20 | g.33851003A>T | CA408920514 | CHMP4B | c.420A>T (p.Glu140Asp) | |
| 20 | g.33851004C>A | CA408920516 | CHMP4B | c.421C>A (p.Leu141Ile) | |
| 20 | g.33851004C= | CA2360938945 | CHMP4B | c.421C= (p.Leu141=) | |
| 20 | g.33851004C>G | CA313391032 | CHMP4B | c.421C>G (p.Leu141Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.33851004C>T | CA408920515 | CHMP4B | c.421C>T (p.Leu141Phe) | |
| 20 | g.33851005T>A | CA408920517 | CHMP4B | c.422T>A (p.Leu141His) | |
| 20 | g.33851005T>C | CA408920519 | CHMP4B | c.422T>C (p.Leu141Pro) | |
| 20 | g.33851005T>G | CA408920518 | CHMP4B | c.422T>G (p.Leu141Arg) | |
| 20 | g.33851006T>A | CA510407314 | CHMP4B | c.423T>A (p.Leu141=) | |
| 20 | g.33851006T>C | CA510407316 | CHMP4B | c.423T>C (p.Leu141=) | |
| 20 | g.33851006T>G | CA510407318 | CHMP4B | c.423T>G (p.Leu141=) | |
| 20 | g.33851007G>A | CA408920520 | CHMP4B | c.424G>A (p.Ala142Thr) | gnomAD v4 |
| 20 | g.33851007G>C | CA408920521 | CHMP4B | c.424G>C (p.Ala142Pro) | |
| 20 | g.33851007G>T | CA408920522 | CHMP4B | c.424G>T (p.Ala142Ser) | |
| 20 | g.33851008C>A | CA408920523 | CHMP4B | c.425C>A (p.Ala142Glu) | |
| 20 | g.33851008C>G | CA408920524 | CHMP4B | c.425C>G (p.Ala142Gly) | |
| 20 | g.33851008C>T | CA408920525 | CHMP4B | c.425C>T (p.Ala142Val) | |
| 20 | g.33851009A= | CA2360938946 | CHMP4B | c.426A= (p.Ala142=) | |
| 20 | g.33851009A>C | CA510407327 | CHMP4B | c.426A>C (p.Ala142=) | |
| 20 | g.33851009A>G | CA510407329 | CHMP4B | c.426A>G (p.Ala142=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.33851009A>T | CA510407331 | CHMP4B | c.426A>T (p.Ala142=) | |
| 20 | g.33851010G>A | CA408920528 | CHMP4B | c.427G>A (p.Glu143Lys) | COSMIC |
| 20 | g.33851010G>C | CA408920526 | CHMP4B | c.427G>C (p.Glu143Gln) | |
| 20 | g.33851010G>T | CA408920527 | CHMP4B | c.427G>T (p.Glu143Ter) | |
| 20 | g.33851013_33851015del | CA2739290263 | CHMP4B | c.430_432del (p.Glu144del) | |
| 20 | g.33851011A>C | CA408920529 | CHMP4B | c.428A>C (p.Glu143Ala) | |
| 20 | g.33851011A>G | CA408920530 | CHMP4B | c.428A>G (p.Glu143Gly) | |
| 20 | g.33851011A>T | CA408920531 | CHMP4B | c.428A>T (p.Glu143Val) | |
| 20 | g.33851012G>A | CA510407341 | CHMP4B | c.429G>A (p.Glu143=) | gnomAD v4 |
| 20 | g.33851012G>C | CA9819947 | CHMP4B | c.429G>C (p.Glu143Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33851012G= | CA2360938947 | CHMP4B | c.429G= (p.Glu143=) | |
| 20 | g.33851012G>T | CA408920532 | CHMP4B | c.429G>T (p.Glu143Asp) | |
| 20 | g.33851013G>A | CA408920535 | CHMP4B | c.430G>A (p.Glu144Lys) | |
| 20 | g.33851013G>C | CA408920533 | CHMP4B | c.430G>C (p.Glu144Gln) | |
| 20 | g.33851013G>T | CA408920534 | CHMP4B | c.430G>T (p.Glu144Ter) | |
| 20 | g.33851014A>C | CA408920536 | CHMP4B | c.431A>C (p.Glu144Ala) | |
| 20 | g.33851014A>G | CA408920537 | CHMP4B | c.431A>G (p.Glu144Gly) | |
| 20 | g.33851014A>T | CA408920538 | CHMP4B | c.431A>T (p.Glu144Val) | |
| 20 | g.33851015G>A | CA510407354 | CHMP4B | c.432G>A (p.Glu144=) | |
| 20 | g.33851015G>C | CA408920539 | CHMP4B | c.432G>C (p.Glu144Asp) | |
| 20 | g.33851015G>T | CA408920540 | CHMP4B | c.432G>T (p.Glu144Asp) | |
| 20 | g.33851016A>C | CA408920541 | CHMP4B | c.433A>C (p.Ile145Leu) | |
| 20 | g.33851016A>G | CA408920542 | CHMP4B | c.433A>G (p.Ile145Val) | |
| 20 | g.33851016A>T | CA408920543 | CHMP4B | c.433A>T (p.Ile145Phe) | |
| 20 | g.33851017T>A | CA408920544 | CHMP4B | c.434T>A (p.Ile145Asn) | |
| 20 | g.33851017T>C | CA408920545 | CHMP4B | c.434T>C (p.Ile145Thr) | |
| 20 | g.33851017T>G | CA408920546 | CHMP4B | c.434T>G (p.Ile145Ser) | |
| 20 | g.33851018T>A | CA510407364 | CHMP4B | c.435T>A (p.Ile145=) | |
| 20 | g.33851018T>C | CA510407368 | CHMP4B | c.435T>C (p.Ile145=) | |
| 20 | g.33851018T>G | CA408920547 | CHMP4B | c.435T>G (p.Ile145Met) | |
| 20 | g.33851019T>A | CA408920548 | CHMP4B | c.436T>A (p.Ser146Thr) | |
| 20 | g.33851019T>C | CA408920550 | CHMP4B | c.436T>C (p.Ser146Pro) | |
| 20 | g.33851019T>G | CA408920549 | CHMP4B | c.436T>G (p.Ser146Ala) | |
| 20 | g.33851020C>A | CA408920551 | CHMP4B | c.437C>A (p.Ser146Ter) | |
| 20 | g.33851020C>G | CA408920552 | CHMP4B | c.437C>G (p.Ser146Ter) | |
| 20 | g.33851020C>T | CA408920553 | CHMP4B | c.437C>T (p.Ser146Leu) | |
| 20 | g.33851021A>C | CA510407377 | CHMP4B | c.438A>C (p.Ser146=) | gnomAD v4 |
| 20 | g.33851021A>G | CA510407379 | CHMP4B | c.438A>G (p.Ser146=) | |
| 20 | g.33851021A>T | CA510407381 | CHMP4B | c.438A>T (p.Ser146=) | |
| 20 | g.33851022A= | CA2360938948 | CHMP4B | c.439A= (p.Thr147=) | |
| 20 | g.33851022A>C | CA408920554 | CHMP4B | c.439A>C (p.Thr147Pro) | |
| 20 | g.33851022A>G | CA9819948 | CHMP4B | c.439A>G (p.Thr147Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.33851022A>T | CA408920555 | CHMP4B | c.439A>T (p.Thr147Ser) | |
| 20 | g.33851023C>A | CA408920556 | CHMP4B | c.440C>A (p.Thr147Lys) | |
| 20 | g.33851023C>G | CA408920557 | CHMP4B | c.440C>G (p.Thr147Arg) | |
| 20 | g.33851023C>T | CA408920558 | CHMP4B | c.440C>T (p.Thr147Ile) | |
| 20 | g.33851024A>C | CA510407391 | CHMP4B | c.441A>C (p.Thr147=) | |
| 20 | g.33851024A>G | CA510407393 | CHMP4B | c.441A>G (p.Thr147=) | |
| 20 | g.33851024A>T | CA510407395 | CHMP4B | c.441A>T (p.Thr147=) | |
| 20 | g.33851025G>A | CA408920559 | CHMP4B | c.442G>A (p.Ala148Thr) | |
| 20 | g.33851025G>C | CA408920560 | CHMP4B | c.442G>C (p.Ala148Pro) | |
| 20 | g.33851025G>T | CA408920561 | CHMP4B | c.442G>T (p.Ala148Ser) | |
| 20 | g.33851026C>A | CA408920564 | CHMP4B | c.443C>A (p.Ala148Glu) | |
| 20 | g.33851026C>G | CA408920562 | CHMP4B | c.443C>G (p.Ala148Gly) | |
| 20 | g.33851026C>T | CA408920563 | CHMP4B | c.443C>T (p.Ala148Val) | |
| 20 | g.33851027A>C | CA510407405 | CHMP4B | c.444A>C (p.Ala148=) | |
| 20 | g.33851027A>G | CA510407407 | CHMP4B | c.444A>G (p.Ala148=) | |
| 20 | g.33851027A>T | CA510407408 | CHMP4B | c.444A>T (p.Ala148=) | |
| 20 | g.33851028A>C | CA408920565 | CHMP4B | c.445A>C (p.Ile149Leu) | |
| 20 | g.33851028A>G | CA408920566 | CHMP4B | c.445A>G (p.Ile149Val) | gnomAD v4 |
| 20 | g.33851028A>T | CA408920567 | CHMP4B | c.445A>T (p.Ile149Phe) | |
| 20 | g.33851029T>A | CA408920568 | CHMP4B | c.446T>A (p.Ile149Asn) | |
| 20 | g.33851029T>C | CA408920569 | CHMP4B | c.446T>C (p.Ile149Thr) | |
| 20 | g.33851029T>G | CA408920570 | CHMP4B | c.446T>G (p.Ile149Ser) | |
| 20 | g.33851030T>A | CA510407417 | CHMP4B | c.447T>A (p.Ile149=) | |
| 20 | g.33851030T>C | CA510407419 | CHMP4B | c.447T>C (p.Ile149=) | |
| 20 | g.33851030T>G | CA408920571 | CHMP4B | c.447T>G (p.Ile149Met) | |
| 20 | g.33851031T>A | CA408920572 | CHMP4B | c.448T>A (p.Ser150Thr) | |
| 20 | g.33851031T>C | CA408920573 | CHMP4B | c.448T>C (p.Ser150Pro) | |
| 20 | g.33851031T>G | CA408920574 | CHMP4B | c.448T>G (p.Ser150Ala) | |
| 20 | g.33851032C>A | CA408920577 | CHMP4B | c.449C>A (p.Ser150Ter) | |
| 20 | g.33851032C= | CA2360938949 | CHMP4B | c.449C= (p.Ser150=) | |
| 20 | g.33851032C>G | CA408920576 | CHMP4B | c.449C>G (p.Ser150Trp) | |
| 20 | g.33851032C>T | CA408920575 | CHMP4B | c.449C>T (p.Ser150Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.33851033G>A | CA9819949 | CHMP4B | c.450G>A (p.Ser150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.33851033G>C | CA510407431 | CHMP4B | c.450G>C (p.Ser150=) | gnomAD v4 |
| 20 | g.33851033G= | CA2360938950 | CHMP4B | c.450G= (p.Ser150=) | |
| 20 | g.33851033G>T | CA510407429 | CHMP4B | c.450G>T (p.Ser150=) | |
| 20 | g.33851034A>C | CA408920580 | CHMP4B | c.451A>C (p.Lys151Gln) | |
| 20 | g.33851034A>G | CA408920578 | CHMP4B | c.451A>G (p.Lys151Glu) | |
| 20 | g.33851034A>T | CA408920579 | CHMP4B | c.451A>T (p.Lys151Ter) | |
| 20 | g.33851035A>C | CA408920581 | CHMP4B | c.452A>C (p.Lys151Thr) | |
| 20 | g.33851035A>G | CA408920582 | CHMP4B | c.452A>G (p.Lys151Arg) | |
| 20 | g.33851035A>T | CA408920583 | CHMP4B | c.452A>T (p.Lys151Ile) | |
| 20 | g.33851036A>C | CA408920584 | CHMP4B | c.453A>C (p.Lys151Asn) | |
| 20 | g.33851036A>G | CA510407445 | CHMP4B | c.453A>G (p.Lys151=) | |
| 20 | g.33851036A>T | CA408920585 | CHMP4B | c.453A>T (p.Lys151Asn) | |
| 20 | g.33851037C>A | CA408920586 | CHMP4B | c.454C>A (p.Pro152Thr) | |
| 20 | g.33851037C= | CA2360938951 | CHMP4B | c.454C= (p.Pro152=) | |
| 20 | g.33851037C>G | CA9819950 | CHMP4B | c.454C>G (p.Pro152Ala) | dbSNP ExAC gnomAD v2 |
| 20 | g.33851037C>T | CA408920587 | CHMP4B | c.454C>T (p.Pro152Ser) | dbSNP |
| 20 | g.33851038C>A | CA408920588 | CHMP4B | c.455C>A (p.Pro152His) | |
| 20 | g.33851038C>G | CA408920589 | CHMP4B | c.455C>G (p.Pro152Arg) | gnomAD v4 |
| 20 | g.33851038C>T | CA408920590 | CHMP4B | c.455C>T (p.Pro152Leu) | |
| 20 | g.33851039T>A | CA510407453 | CHMP4B | c.456T>A (p.Pro152=) | |
| 20 | g.33851039T>C | CA9819951 | CHMP4B | c.456T>C (p.Pro152=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.33851039T>G | CA510407456 | CHMP4B | c.456T>G (p.Pro152=) | |
| 20 | g.33851039T= | CA2360938952 | CHMP4B | c.456T= (p.Pro152=) | |
| 20 | g.33851040G>A | CA408920591 | CHMP4B | c.457G>A (p.Val153Ile) | |
| 20 | g.33851040G>C | CA408920592 | CHMP4B | c.457G>C (p.Val153Leu) | |
| 20 | g.33851040G>T | CA408920593 | CHMP4B | c.457G>T (p.Val153Leu) | |
| 20 | g.33851041T>A | CA408920594 | CHMP4B | c.458T>A (p.Val153Glu) | |
| 20 | g.33851041T>C | CA408920595 | CHMP4B | c.458T>C (p.Val153Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.33851041T>G | CA408920596 | CHMP4B | c.458T>G (p.Val153Gly) | |
| 20 | g.33851041T= | CA2360938953 | CHMP4B | c.458T= (p.Val153=) | |
| 20 | g.33851042A>C | CA510407466 | CHMP4B | c.459A>C (p.Val153=) | |
| 20 | g.33851042A>G | CA510407468 | CHMP4B | c.459A>G (p.Val153=) | |
| 20 | g.33851042A>T | CA510407469 | CHMP4B | c.459A>T (p.Val153=) | |
| 20 | g.33851043G>A | CA9819952 | CHMP4B | c.460G>A (p.Gly154Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33851043G>C | CA408920597 | CHMP4B | c.460G>C (p.Gly154Arg) | |
| 20 | g.33851043G= | CA2360938954 | CHMP4B | c.460G= (p.Gly154=) | |
| 20 | g.33851043G>T | CA408920598 | CHMP4B | c.460G>T (p.Gly154Trp) | |
| 20 | g.33851044G>A | CA9819953 | CHMP4B | c.461G>A (p.Gly154Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.33851044G>C | CA408920599 | CHMP4B | c.461G>C (p.Gly154Ala) | |
| 20 | g.33851044G= | CA2360938955 | CHMP4B | c.461G= (p.Gly154=) | |
| 20 | g.33851044G>T | CA408920600 | CHMP4B | c.461G>T (p.Gly154Val) | |
| 20 | g.33851045G>A | CA510407482 | CHMP4B | c.462G>A (p.Gly154=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33851045G>C | CA510407484 | CHMP4B | c.462G>C (p.Gly154=) | |
| 20 | g.33851045G= | CA2360938956 | CHMP4B | c.462G= (p.Gly154=) | |
| 20 | g.33851045G>T | CA510407481 | CHMP4B | c.462G>T (p.Gly154=) | |
| 20 | g.33851046T>A | CA408920602 | CHMP4B | c.463T>A (p.Phe155Ile) | |
| 20 | g.33851046T>C | CA408920603 | CHMP4B | c.463T>C (p.Phe155Leu) | |
| 20 | g.33851046T>G | CA408920601 | CHMP4B | c.463T>G (p.Phe155Val) | |
| 20 | g.33851047T>A | CA408920604 | CHMP4B | c.464T>A (p.Phe155Tyr) | |
| 20 | g.33851047T>C | CA408920605 | CHMP4B | c.464T>C (p.Phe155Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.33851047T>G | CA408920606 | CHMP4B | c.464T>G (p.Phe155Cys) | |
| 20 | g.33851047T= | CA2360938957 | CHMP4B | c.464T= (p.Phe155=) | |
| 20 | g.33851048T>A | CA408920607 | CHMP4B | c.465T>A (p.Phe155Leu) | |
| 20 | g.33851048T>C | CA510407495 | CHMP4B | c.465T>C (p.Phe155=) | |
| 20 | g.33851048T>G | CA408920608 | CHMP4B | c.465T>G (p.Phe155Leu) | |
| 20 | g.33851049G>A | CA408920609 | CHMP4B | c.466G>A (p.Gly156Arg) | |
| 20 | g.33851049G>C | CA408920610 | CHMP4B | c.466G>C (p.Gly156Arg) | COSMIC |
| 20 | g.33851049G>T | CA408920611 | CHMP4B | c.466G>T (p.Gly156Ter) | |
| 20 | g.33851050_33851052del | CA2652513905 | CHMP4B | c.467_469del (p.Gly156del) | gnomAD v4 |
| 20 | g.33851050G>A | CA408920612 | CHMP4B | c.467G>A (p.Gly156Glu) | |
| 20 | g.33851050G>C | CA408920613 | CHMP4B | c.467G>C (p.Gly156Ala) | |
| 20 | g.33851050G>T | CA408920614 | CHMP4B | c.467G>T (p.Gly156Val) | |
| 20 | g.33851051A= | CA2360938958 | CHMP4B | c.468A= (p.Gly156=) | |
| 20 | g.33851051A>C | CA510407506 | CHMP4B | c.468A>C (p.Gly156=) | |
| 20 | g.33851051A>G | CA510407508 | CHMP4B | c.468A>G (p.Gly156=) | |
| 20 | g.33851051A>T | CA9819954 | CHMP4B | c.468A>T (p.Gly156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33851052G>A | CA408920616 | CHMP4B | c.469G>A (p.Glu157Lys) | |
| 20 | g.33851052G>C | CA408920617 | CHMP4B | c.469G>C (p.Glu157Gln) | |
| 20 | g.33851052G>T | CA408920615 | CHMP4B | c.469G>T (p.Glu157Ter) | |
| 20 | g.33851053A>C | CA408920618 | CHMP4B | c.470A>C (p.Glu157Ala) | |
| 20 | g.33851053A>G | CA408920619 | CHMP4B | c.470A>G (p.Glu157Gly) | |
| 20 | g.33851053A>T | CA408920620 | CHMP4B | c.470A>T (p.Glu157Val) | |
| 20 | g.33851054A>C | CA408920621 | CHMP4B | c.471A>C (p.Glu157Asp) | |
| 20 | g.33851054A>G | CA510407520 | CHMP4B | c.471A>G (p.Glu157=) | |
| 20 | g.33851054A>T | CA408920622 | CHMP4B | c.471A>T (p.Glu157Asp) | |
| 20 | g.33851055G>A | CA408920625 | CHMP4B | c.472G>A (p.Glu158Lys) | |
| 20 | g.33851055G>C | CA408920623 | CHMP4B | c.472G>C (p.Glu158Gln) | |
| 20 | g.33851055G>T | CA408920624 | CHMP4B | c.472G>T (p.Glu158Ter) | |
| 20 | g.33851056A>C | CA408920626 | CHMP4B | c.473A>C (p.Glu158Ala) | |
| 20 | g.33851056A>G | CA408920627 | CHMP4B | c.473A>G (p.Glu158Gly) | |
| 20 | g.33851056A>T | CA408920628 | CHMP4B | c.473A>T (p.Glu158Val) | |
| 20 | g.33851057G>A | CA510407534 | CHMP4B | c.474G>A (p.Glu158=) | |
| 20 | g.33851057G>C | CA408920629 | CHMP4B | c.474G>C (p.Glu158Asp) | |
| 20 | g.33851057G>T | CA408920630 | CHMP4B | c.474G>T (p.Glu158Asp) | |
| 20 | g.33851058T>A | CA408920633 | CHMP4B | c.475T>A (p.Phe159Ile) | |
| 20 | g.33851058T>C | CA408920632 | CHMP4B | c.475T>C (p.Phe159Leu) | |
| 20 | g.33851058T>G | CA408920631 | CHMP4B | c.475T>G (p.Phe159Val) | |
| 20 | g.33851059T>A | CA408920634 | CHMP4B | c.476T>A (p.Phe159Tyr) | |
| 20 | g.33851059T>C | CA408920636 | CHMP4B | c.476T>C (p.Phe159Ser) | |
| 20 | g.33851059T>G | CA408920635 | CHMP4B | c.476T>G (p.Phe159Cys) | |
| 20 | g.33851060T>A | CA408920637 | CHMP4B | c.477T>A (p.Phe159Leu) | |
| 20 | g.33851060T>C | CA9819955 | CHMP4B | c.477T>C (p.Phe159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.33851060T>G | CA408920638 | CHMP4B | c.477T>G (p.Phe159Leu) | |
| 20 | g.33851060T= | CA2360938959 | CHMP4B | c.477T= (p.Phe159=) | |
| 20 | g.33851061G>A | CA408920639 | CHMP4B | c.478G>A (p.Asp160Asn) | |
| 20 | g.33851061G>C | CA408920641 | CHMP4B | c.478G>C (p.Asp160His) | |
| 20 | g.33851061G>T | CA408920640 | CHMP4B | c.478G>T (p.Asp160Tyr) | |
| 20 | g.33851062A>C | CA408920642 | CHMP4B | c.479A>C (p.Asp160Ala) | |
| 20 | g.33851062A>G | CA408920643 | CHMP4B | c.479A>G (p.Asp160Gly) | |
| 20 | g.33851062A>T | CA408920644 | CHMP4B | c.479A>T (p.Asp160Val) | |
| 20 | g.33851063C>A | CA408920645 | CHMP4B | c.480C>A (p.Asp160Glu) | gnomAD v4 |
| 20 | g.33851063C= | CA2360938960 | CHMP4B | c.480C= (p.Asp160=) | |
| 20 | g.33851063C>G | CA408920646 | CHMP4B | c.480C>G (p.Asp160Glu) | |
| 20 | g.33851063C>T | CA9819956 | CHMP4B | c.480C>T (p.Asp160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33851064G>A | CA114744 | CHMP4B | c.481G>A (p.Glu161Lys) | ClinVar dbSNP COSMIC |
| 20 | g.33851064G>C | CA408920647 | CHMP4B | c.481G>C (p.Glu161Gln) | ClinVar dbSNP |
| 20 | g.33851064G= | CA2360938961 | CHMP4B | c.481G= (p.Glu161=) | |
| 20 | g.33851064G>T | CA408920648 | CHMP4B | c.481G>T (p.Glu161Ter) | |
| 20 | g.33851065A>C | CA408920649 | CHMP4B | c.482A>C (p.Glu161Ala) | |
| 20 | g.33851065A>G | CA408920650 | CHMP4B | c.482A>G (p.Glu161Gly) | |
| 20 | g.33851065A>T | CA408920651 | CHMP4B | c.482A>T (p.Glu161Val) | |
| 20 | g.33851066G>A | CA9819957 | CHMP4B | c.483G>A (p.Glu161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.33851066G>C | CA408920652 | CHMP4B | c.483G>C (p.Glu161Asp) | |
| 20 | g.33851066G= | CA2360938962 | CHMP4B | c.483G= (p.Glu161=) | |
| 20 | g.33851066G>T | CA408920653 | CHMP4B | c.483G>T (p.Glu161Asp) | |
| 20 | g.33851067G>A | CA408920654 | CHMP4B | c.483+1G>A (n.483+1G>A) | COSMIC |
| 20 | g.33851067G>C | CA408920655 | CHMP4B | c.483+1G>C (n.483+1G>C) | |
| 20 | g.33851067G>T | CA408920656 | CHMP4B | c.483+1G>T (n.483+1G>T) | COSMIC |
| 20 | g.33851068T>A | CA408920657 | CHMP4B | c.483+2T>A (n.483+2T>A) | |
| 20 | g.33851068T>C | CA408920658 | CHMP4B | c.483+2T>C (n.483+2T>C) | |
| 20 | g.33851068T>G | CA408920659 | CHMP4B | c.483+2T>G (n.483+2T>G) | |
| 20 | g.33851069G>T | CA2652513906 | CHMP4B | c.483+3G>T (n.483+3G>T) | gnomAD v4 |
| 20 | g.33851070A>G | CA2652513907 | CHMP4B | c.483+4A>G (n.483+4A>G) | gnomAD v4 |
| 20 | g.33851071G>A | CA2360938964 | CHMP4B | c.483+5G>A (n.483+5G>A) | dbSNP gnomAD v4 |
| 20 | g.33851071G= | CA2360938963 | CHMP4B | c.483+5G= (n.483+5G=) | |
| 20 | g.33851073A= | CA2360938965 | CHMP4B | c.483+7A= (n.483+7A=) | |
| 20 | g.33851073A>G | CA9819958 | CHMP4B | c.483+7A>G (n.483+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33851074G>A | CA2652513908 | CHMP4B | c.483+8G>A (n.483+8G>A) | gnomAD v4 |
| 20 | g.33851074G= | CA2360938966 | CHMP4B | c.483+8G= (n.483+8G=) | |
| 20 | g.33851074G>T | CA2360938967 | CHMP4B | c.483+8G>T (n.483+8G>T) | dbSNP gnomAD v4 |
| 20 | g.33851077_33851097del | CA2652513909 | CHMP4B | c.483+11_483+31del (n.483+11_483+31del) | gnomAD v4 |
| 20 | g.33851076T>G | CA9819959 | CHMP4B | c.483+10T>G (n.483+10T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33851076T= | CA2360938968 | CHMP4B | c.483+10T= (n.483+10T=) | |
| 20 | g.33851077T>G | CA9819960 | CHMP4B | c.483+11T>G (n.483+11T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.33851077T= | CA2360938969 | CHMP4B | c.483+11T= (n.483+11T=) | |
| 20 | g.33851078T>C | CA2652513910 | CHMP4B | c.483+12T>C (n.483+12T>C) | gnomAD v4 |
| 20 | g.33851079G>A | CA9819961 | CHMP4B | c.483+13G>A (n.483+13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.33851079G= | CA2360938970 | CHMP4B | c.483+13G= (n.483+13G=) | |
| 20 | g.33851080T>C | CA313391150 | CHMP4B | c.483+14T>C (n.483+14T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.33851080T= | CA2360938971 | CHMP4B | c.483+14T= (n.483+14T=) | |
| 20 | g.33851081A= | CA2360938972 | CHMP4B | c.483+15A= (n.483+15A=) | |
| 20 | g.33851081A>G | CA313391157 | CHMP4B | c.483+15A>G (n.483+15A>G) | dbSNP gnomAD v4 |