SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69419587_69419589del | CA1077191978 | MARVELD2 | c.202_204del (p.Glu68del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419588A= | CA1553915894 | MARVELD2 | c.203A= (p.Glu68=) | |
| 5 | g.69419588A>C | CA359922325 | MARVELD2 | c.203A>C (p.Glu68Ala) | |
| 5 | g.69419588A>G | CA3293997 | MARVELD2 | c.203A>G (p.Glu68Gly) | dbSNP ExAC gnomAD v2 |
| 5 | g.69419588A>T | CA359922328 | MARVELD2 | c.203A>T (p.Glu68Val) | |
| 5 | g.69419589A= | CA1553915896 | MARVELD2 | c.204A= (p.Glu68=) | |
| 5 | g.69419589A>C | CA359922330 | MARVELD2 | c.204A>C (p.Glu68Asp) | |
| 5 | g.69419589A>G | CA445083211 | MARVELD2 | c.204A>G (p.Glu68=) | |
| 5 | g.69419589A>T | CA359922331 | MARVELD2 | c.204A>T (p.Glu68Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419590C>A | CA359922336 | MARVELD2 | c.205C>A (p.Pro69Thr) | |
| 5 | g.69419590C>G | CA359922333 | MARVELD2 | c.205C>G (p.Pro69Ala) | |
| 5 | g.69419590C>T | CA359922334 | MARVELD2 | c.205C>T (p.Pro69Ser) | |
| 5 | g.69419591del | CA2674131173 | MARVELD2 | c.206del (p.Pro69GlnfsTer3) | gnomAD v4 |
| 5 | g.69419591C>A | CA3293998 | MARVELD2 | c.206C>A (p.Pro69Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419591C= | CA1553915898 | MARVELD2 | c.206C= (p.Pro69=) | |
| 5 | g.69419591C>G | CA359922338 | MARVELD2 | c.206C>G (p.Pro69Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419591C>T | CA359922340 | MARVELD2 | c.206C>T (p.Pro69Leu) | |
| 5 | g.69419592A>C | CA445083216 | MARVELD2 | c.207A>C (p.Pro69=) | |
| 5 | g.69419592A>G | CA445083217 | MARVELD2 | c.207A>G (p.Pro69=) | |
| 5 | g.69419592A>T | CA445083218 | MARVELD2 | c.207A>T (p.Pro69=) | |
| 5 | g.69419593G>A | CA359922342 | MARVELD2 | c.208G>A (p.Ala70Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419593G>C | CA359922344 | MARVELD2 | c.208G>C (p.Ala70Pro) | |
| 5 | g.69419593G= | CA1553915901 | MARVELD2 | c.208G= (p.Ala70=) | |
| 5 | g.69419593G>T | CA359922346 | MARVELD2 | c.208G>T (p.Ala70Ser) | |
| 5 | g.69419594C>A | CA359922348 | MARVELD2 | c.209C>A (p.Ala70Asp) | |
| 5 | g.69419594C>G | CA359922350 | MARVELD2 | c.209C>G (p.Ala70Gly) | |
| 5 | g.69419594C>T | CA359922351 | MARVELD2 | c.209C>T (p.Ala70Val) | gnomAD v4 |
| 5 | g.69419595T>A | CA445083219 | MARVELD2 | c.210T>A (p.Ala70=) | |
| 5 | g.69419595T>C | CA445083221 | MARVELD2 | c.210T>C (p.Ala70=) | gnomAD v3 gnomAD v4 |
| 5 | g.69419595T>G | CA445083220 | MARVELD2 | c.210T>G (p.Ala70=) | |
| 5 | g.69419596A= | CA1553915907 | MARVELD2 | c.211A= (p.Ile71=) | |
| 5 | g.69419596A>C | CA359922353 | MARVELD2 | c.211A>C (p.Ile71Leu) | |
| 5 | g.69419596A>G | CA185514 | MARVELD2 | c.211A>G (p.Ile71Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69419596A>T | CA359922354 | MARVELD2 | c.211A>T (p.Ile71Leu) | |
| 5 | g.69419597T>A | CA359922356 | MARVELD2 | c.212T>A (p.Ile71Lys) | |
| 5 | g.69419597T>C | CA359922357 | MARVELD2 | c.212T>C (p.Ile71Thr) | |
| 5 | g.69419597T>G | CA359922355 | MARVELD2 | c.212T>G (p.Ile71Arg) | |
| 5 | g.69419598A>C | CA445083224 | MARVELD2 | c.213A>C (p.Ile71=) | |
| 5 | g.69419598A>G | CA359922358 | MARVELD2 | c.213A>G (p.Ile71Met) | gnomAD v4 |
| 5 | g.69419598A>T | CA445083225 | MARVELD2 | c.213A>T (p.Ile71=) | |
| 5 | g.69419599G>A | CA359922359 | MARVELD2 | c.214G>A (p.Ala72Thr) | |
| 5 | g.69419599G>C | CA359922361 | MARVELD2 | c.214G>C (p.Ala72Pro) | |
| 5 | g.69419599G>T | CA359922362 | MARVELD2 | c.214G>T (p.Ala72Ser) | |
| 5 | g.69419600C>A | CA359922365 | MARVELD2 | c.215C>A (p.Ala72Glu) | |
| 5 | g.69419600C= | CA1553915912 | MARVELD2 | c.215C= (p.Ala72=) | |
| 5 | g.69419600C>G | CA3293999 | MARVELD2 | c.215C>G (p.Ala72Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419600C>T | CA3294000 | MARVELD2 | c.215C>T (p.Ala72Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419601G>A | CA3294001 | MARVELD2 | c.216G>A (p.Ala72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419601G>C | CA445083230 | MARVELD2 | c.216G>C (p.Ala72=) | |
| 5 | g.69419601G= | CA1553915915 | MARVELD2 | c.216G= (p.Ala72=) | |
| 5 | g.69419601G>T | CA3294002 | MARVELD2 | c.216G>T (p.Ala72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419602C>A | CA359922371 | MARVELD2 | c.217C>A (p.Pro73Thr) | |
| 5 | g.69419602C>G | CA359922372 | MARVELD2 | c.217C>G (p.Pro73Ala) | |
| 5 | g.69419602C>T | CA359922374 | MARVELD2 | c.217C>T (p.Pro73Ser) | |
| 5 | g.69419603C>A | CA359922378 | MARVELD2 | c.218C>A (p.Pro73Gln) | |
| 5 | g.69419603C>G | CA359922379 | MARVELD2 | c.218C>G (p.Pro73Arg) | |
| 5 | g.69419603C>T | CA359922376 | MARVELD2 | c.218C>T (p.Pro73Leu) | |
| 5 | g.69419604A>C | CA445083236 | MARVELD2 | c.219A>C (p.Pro73=) | |
| 5 | g.69419604A>G | CA445083237 | MARVELD2 | c.219A>G (p.Pro73=) | |
| 5 | g.69419604A>T | CA445083235 | MARVELD2 | c.219A>T (p.Pro73=) | |
| 5 | g.69419605G>A | CA359922381 | MARVELD2 | c.220G>A (p.Asp74Asn) | |
| 5 | g.69419605G>C | CA359922383 | MARVELD2 | c.220G>C (p.Asp74His) | |
| 5 | g.69419605G>T | CA359922385 | MARVELD2 | c.220G>T (p.Asp74Tyr) | |
| 5 | g.69419606A= | CA1553915918 | MARVELD2 | c.221A= (p.Asp74=) | |
| 5 | g.69419606A>C | CA359922386 | MARVELD2 | c.221A>C (p.Asp74Ala) | |
| 5 | g.69419606A>G | CA3294003 | MARVELD2 | c.221A>G (p.Asp74Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419606A>T | CA359922389 | MARVELD2 | c.221A>T (p.Asp74Val) | |
| 5 | g.69419607T>A | CA359922393 | MARVELD2 | c.222T>A (p.Asp74Glu) | |
| 5 | g.69419607T>C | CA445083241 | MARVELD2 | c.222T>C (p.Asp74=) | |
| 5 | g.69419607T>G | CA359922391 | MARVELD2 | c.222T>G (p.Asp74Glu) | |
| 5 | g.69419608C>A | CA359922394 | MARVELD2 | c.223C>A (p.Leu75Ile) | |
| 5 | g.69419608C>G | CA359922396 | MARVELD2 | c.223C>G (p.Leu75Val) | |
| 5 | g.69419608C>T | CA359922398 | MARVELD2 | c.223C>T (p.Leu75Phe) | |
| 5 | g.69419609T>A | CA359922401 | MARVELD2 | c.224T>A (p.Leu75His) | |
| 5 | g.69419609T>C | CA359922402 | MARVELD2 | c.224T>C (p.Leu75Pro) | |
| 5 | g.69419609T>G | CA359922404 | MARVELD2 | c.224T>G (p.Leu75Arg) | |
| 5 | g.69419610C>A | CA445083248 | MARVELD2 | c.225C>A (p.Leu75=) | |
| 5 | g.69419610C= | CA1553915923 | MARVELD2 | c.225C= (p.Leu75=) | |
| 5 | g.69419610C>G | CA445083249 | MARVELD2 | c.225C>G (p.Leu75=) | dbSNP |
| 5 | g.69419610C>T | CA445083250 | MARVELD2 | c.225C>T (p.Leu75=) | |
| 5 | g.69419611A= | CA1553915925 | MARVELD2 | c.226A= (p.Lys76=) | |
| 5 | g.69419611A>C | CA359922410 | MARVELD2 | c.226A>C (p.Lys76Gln) | gnomAD v4 |
| 5 | g.69419611A>G | CA359922408 | MARVELD2 | c.226A>G (p.Lys76Glu) | dbSNP gnomAD v4 |
| 5 | g.69419611A>T | CA359922406 | MARVELD2 | c.226A>T (p.Lys76Ter) | |
| 5 | g.69419612A= | CA1553915927 | MARVELD2 | c.227A= (p.Lys76=) | |
| 5 | g.69419612A>C | CA359922412 | MARVELD2 | c.227A>C (p.Lys76Thr) | dbSNP gnomAD v4 |
| 5 | g.69419612A>G | CA359922416 | MARVELD2 | c.227A>G (p.Lys76Arg) | gnomAD v4 |
| 5 | g.69419612A>T | CA359922414 | MARVELD2 | c.227A>T (p.Lys76Ile) | |
| 5 | g.69419613A= | CA1553915930 | MARVELD2 | c.228A= (p.Lys76=) | |
| 5 | g.69419613A>C | CA359922417 | MARVELD2 | c.228A>C (p.Lys76Asn) | dbSNP gnomAD v4 |
| 5 | g.69419613A>G | CA445083255 | MARVELD2 | c.228A>G (p.Lys76=) | |
| 5 | g.69419613A>T | CA359922419 | MARVELD2 | c.228A>T (p.Lys76Asn) | |
| 5 | g.69419614C>A | CA359922421 | MARVELD2 | c.229C>A (p.Pro77Thr) | |
| 5 | g.69419614C>G | CA359922423 | MARVELD2 | c.229C>G (p.Pro77Ala) | |
| 5 | g.69419614C>T | CA359922424 | MARVELD2 | c.229C>T (p.Pro77Ser) | |
| 5 | g.69419615C>A | CA359922427 | MARVELD2 | c.230C>A (p.Pro77Gln) | |
| 5 | g.69419615C>G | CA359922429 | MARVELD2 | c.230C>G (p.Pro77Arg) | |
| 5 | g.69419615C>T | CA359922431 | MARVELD2 | c.230C>T (p.Pro77Leu) | |
| 5 | g.69419616A>C | CA445083257 | MARVELD2 | c.231A>C (p.Pro77=) | |
| 5 | g.69419616A>G | CA445083259 | MARVELD2 | c.231A>G (p.Pro77=) | |
| 5 | g.69419616A>T | CA445083262 | MARVELD2 | c.231A>T (p.Pro77=) | |
| 5 | g.69419617G>A | CA359922434 | MARVELD2 | c.232G>A (p.Val78Ile) | gnomAD v4 |
| 5 | g.69419617G>C | CA359922435 | MARVELD2 | c.232G>C (p.Val78Leu) | |
| 5 | g.69419617G>T | CA359922437 | MARVELD2 | c.232G>T (p.Val78Leu) | |
| 5 | g.69419618T>A | CA359922440 | MARVELD2 | c.233T>A (p.Val78Glu) | |
| 5 | g.69419618T>C | CA359922442 | MARVELD2 | c.233T>C (p.Val78Ala) | |
| 5 | g.69419618T>G | CA359922444 | MARVELD2 | c.233T>G (p.Val78Gly) | |
| 5 | g.69419619A= | CA1553915934 | MARVELD2 | c.234A= (p.Val78=) | |
| 5 | g.69419619A>C | CA445083267 | MARVELD2 | c.234A>C (p.Val78=) | |
| 5 | g.69419619A>G | CA445083268 | MARVELD2 | c.234A>G (p.Val78=) | dbSNP gnomAD v4 |
| 5 | g.69419619A>T | CA445083269 | MARVELD2 | c.234A>T (p.Val78=) | |
| 5 | g.69419620A>C | CA445083270 | MARVELD2 | c.235A>C (p.Arg79=) | |
| 5 | g.69419620A>G | CA359922446 | MARVELD2 | c.235A>G (p.Arg79Gly) | |
| 5 | g.69419620A>T | CA359922447 | MARVELD2 | c.235A>T (p.Arg79Trp) | dbSNP |
| 5 | g.69419621G>A | CA359922449 | MARVELD2 | c.236G>A (p.Arg79Lys) | gnomAD v4 |
| 5 | g.69419621G>C | CA359922451 | MARVELD2 | c.236G>C (p.Arg79Thr) | |
| 5 | g.69419621G>T | CA359922453 | MARVELD2 | c.236G>T (p.Arg79Met) | |
| 5 | g.69419622G>A | CA445083275 | MARVELD2 | c.237G>A (p.Arg79=) | |
| 5 | g.69419622G>C | CA359922455 | MARVELD2 | c.237G>C (p.Arg79Ser) | |
| 5 | g.69419622G= | CA1553915937 | MARVELD2 | c.237G= (p.Arg79=) | |
| 5 | g.69419622G>T | CA359922457 | MARVELD2 | c.237G>T (p.Arg79Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419623C>A | CA359922459 | MARVELD2 | c.238C>A (p.Arg80Ser) | gnomAD v4 |
| 5 | g.69419623C= | CA1553915942 | MARVELD2 | c.238C= (p.Arg80=) | |
| 5 | g.69419623C>G | CA3294004 | MARVELD2 | c.238C>G (p.Arg80Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419623C>T | CA119991111 | MARVELD2 | c.238C>T (p.Arg80Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.69419624G>A | CA119991122 | MARVELD2 | c.239G>A (p.Arg80His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419624G>C | CA359922463 | MARVELD2 | c.239G>C (p.Arg80Pro) | |
| 5 | g.69419624G= | CA1553915945 | MARVELD2 | c.239G= (p.Arg80=) | |
| 5 | g.69419624G>T | CA359922465 | MARVELD2 | c.239G>T (p.Arg80Leu) | |
| 5 | g.69419625C>A | CA445083279 | MARVELD2 | c.240C>A (p.Arg80=) | |
| 5 | g.69419625C>G | CA445083282 | MARVELD2 | c.240C>G (p.Arg80=) | |
| 5 | g.69419625C>T | CA445083281 | MARVELD2 | c.240C>T (p.Arg80=) | |
| 5 | g.69419626T>A | CA359922468 | MARVELD2 | c.241T>A (p.Phe81Ile) | |
| 5 | g.69419626T>C | CA359922471 | MARVELD2 | c.241T>C (p.Phe81Leu) | |
| 5 | g.69419626T>G | CA359922466 | MARVELD2 | c.241T>G (p.Phe81Val) | |
| 5 | g.69419627T>A | CA359922473 | MARVELD2 | c.242T>A (p.Phe81Tyr) | |
| 5 | g.69419627T>C | CA359922475 | MARVELD2 | c.242T>C (p.Phe81Ser) | |
| 5 | g.69419627T>G | CA359922477 | MARVELD2 | c.242T>G (p.Phe81Cys) | |
| 5 | g.69419628T>A | CA359922479 | MARVELD2 | c.243T>A (p.Phe81Leu) | |
| 5 | g.69419628T>C | CA445083286 | MARVELD2 | c.243T>C (p.Phe81=) | |
| 5 | g.69419628T>G | CA359922480 | MARVELD2 | c.243T>G (p.Phe81Leu) | |
| 5 | g.69419629G>A | CA359922486 | MARVELD2 | c.244G>A (p.Val82Ile) | |
| 5 | g.69419629G>C | CA359922484 | MARVELD2 | c.244G>C (p.Val82Leu) | |
| 5 | g.69419629G>T | CA359922482 | MARVELD2 | c.244G>T (p.Val82Phe) | |
| 5 | g.69419630T>A | CA359922488 | MARVELD2 | c.245T>A (p.Val82Asp) | |
| 5 | g.69419630T>C | CA359922491 | MARVELD2 | c.245T>C (p.Val82Ala) | |
| 5 | g.69419630T>G | CA359922493 | MARVELD2 | c.245T>G (p.Val82Gly) | |
| 5 | g.69419631C>A | CA445083291 | MARVELD2 | c.246C>A (p.Val82=) | |
| 5 | g.69419631C>G | CA445083292 | MARVELD2 | c.246C>G (p.Val82=) | |
| 5 | g.69419631C>T | CA445083295 | MARVELD2 | c.246C>T (p.Val82=) | |
| 5 | g.69419632C>A | CA119991123 | MARVELD2 | c.247C>A (p.Pro83Thr) | dbSNP |
| 5 | g.69419632C= | CA1553915951 | MARVELD2 | c.247C= (p.Pro83=) | |
| 5 | g.69419632C>G | CA359922497 | MARVELD2 | c.247C>G (p.Pro83Ala) | |
| 5 | g.69419632C>T | CA359922499 | MARVELD2 | c.247C>T (p.Pro83Ser) | |
| 5 | g.69419633C>A | CA359922502 | MARVELD2 | c.248C>A (p.Pro83His) | |
| 5 | g.69419633C>G | CA359922508 | MARVELD2 | c.248C>G (p.Pro83Arg) | |
| 5 | g.69419633C>T | CA359922505 | MARVELD2 | c.248C>T (p.Pro83Leu) | |
| 5 | g.69419634T>A | CA445083296 | MARVELD2 | c.249T>A (p.Pro83=) | |
| 5 | g.69419634T>C | CA445083297 | MARVELD2 | c.249T>C (p.Pro83=) | |
| 5 | g.69419634T>G | CA445083298 | MARVELD2 | c.249T>G (p.Pro83=) | |
| 5 | g.69419635G>A | CA359922512 | MARVELD2 | c.250G>A (p.Asp84Asn) | |
| 5 | g.69419635G>C | CA359922514 | MARVELD2 | c.250G>C (p.Asp84His) | gnomAD v4 |
| 5 | g.69419635G>T | CA359922516 | MARVELD2 | c.250G>T (p.Asp84Tyr) | |
| 5 | g.69419636A>C | CA359922519 | MARVELD2 | c.251A>C (p.Asp84Ala) | |
| 5 | g.69419636A>G | CA359922522 | MARVELD2 | c.251A>G (p.Asp84Gly) | |
| 5 | g.69419636A>T | CA359922525 | MARVELD2 | c.251A>T (p.Asp84Val) | |
| 5 | g.69419637C>A | CA359922533 | MARVELD2 | c.252C>A (p.Asp84Glu) | |
| 5 | g.69419637C>G | CA359922536 | MARVELD2 | c.252C>G (p.Asp84Glu) | |
| 5 | g.69419637C>T | CA445083305 | MARVELD2 | c.252C>T (p.Asp84=) | |
| 5 | g.69419638T>A | CA359922539 | MARVELD2 | c.253T>A (p.Ser85Thr) | |
| 5 | g.69419638T>C | CA359922542 | MARVELD2 | c.253T>C (p.Ser85Pro) | |
| 5 | g.69419638T>G | CA359922544 | MARVELD2 | c.253T>G (p.Ser85Ala) | |
| 5 | g.69419639C>A | CA359922554 | MARVELD2 | c.254C>A (p.Ser85Tyr) | |
| 5 | g.69419639C>G | CA359922552 | MARVELD2 | c.254C>G (p.Ser85Cys) | |
| 5 | g.69419639C>T | CA359922549 | MARVELD2 | c.254C>T (p.Ser85Phe) | gnomAD v4 |
| 5 | g.69419640C>A | CA445083307 | MARVELD2 | c.255C>A (p.Ser85=) | |
| 5 | g.69419640C>G | CA445083308 | MARVELD2 | c.255C>G (p.Ser85=) | gnomAD v4 |
| 5 | g.69419640C>T | CA445083310 | MARVELD2 | c.255C>T (p.Ser85=) | gnomAD v4 |
| 5 | g.69419641T>A | CA359922556 | MARVELD2 | c.256T>A (p.Trp86Arg) | |
| 5 | g.69419641T>C | CA359922560 | MARVELD2 | c.256T>C (p.Trp86Arg) | gnomAD v4 |
| 5 | g.69419641T>G | CA359922558 | MARVELD2 | c.256T>G (p.Trp86Gly) | |
| 5 | g.69419642G>A | CA359922566 | MARVELD2 | c.257G>A (p.Trp86Ter) | |
| 5 | g.69419642G>C | CA359922568 | MARVELD2 | c.257G>C (p.Trp86Ser) | dbSNP |
| 5 | g.69419642G= | CA1553915954 | MARVELD2 | c.257G= (p.Trp86=) | |
| 5 | g.69419642G>T | CA359922571 | MARVELD2 | c.257G>T (p.Trp86Leu) | |
| 5 | g.69419643G>A | CA359922575 | MARVELD2 | c.258G>A (p.Trp86Ter) | |
| 5 | g.69419643G>C | CA359922576 | MARVELD2 | c.258G>C (p.Trp86Cys) | |
| 5 | g.69419643G>T | CA359922579 | MARVELD2 | c.258G>T (p.Trp86Cys) | |
| 5 | g.69419644A= | CA1553915958 | MARVELD2 | c.259A= (p.Lys87=) | |
| 5 | g.69419644A>C | CA359922581 | MARVELD2 | c.259A>C (p.Lys87Gln) | |
| 5 | g.69419644A>G | CA359922584 | MARVELD2 | c.259A>G (p.Lys87Glu) | dbSNP gnomAD v4 |
| 5 | g.69419644A>T | CA3294005 | MARVELD2 | c.259A>T (p.Lys87Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419645A>C | CA359922588 | MARVELD2 | c.260A>C (p.Lys87Thr) | |
| 5 | g.69419645A>G | CA359922591 | MARVELD2 | c.260A>G (p.Lys87Arg) | |
| 5 | g.69419645A>T | CA359922593 | MARVELD2 | c.260A>T (p.Lys87Met) | |
| 5 | g.69419646G>A | CA445083325 | MARVELD2 | c.261G>A (p.Lys87=) | dbSNP |
| 5 | g.69419646G>C | CA3294006 | MARVELD2 | c.261G>C (p.Lys87Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419646G= | CA1553915961 | MARVELD2 | c.261G= (p.Lys87=) | |
| 5 | g.69419646G>T | CA359922599 | MARVELD2 | c.261G>T (p.Lys87Asn) | COSMIC |
| 5 | g.69419647A>C | CA359922602 | MARVELD2 | c.262A>C (p.Asn88His) | |
| 5 | g.69419647A>G | CA359922604 | MARVELD2 | c.262A>G (p.Asn88Asp) | |
| 5 | g.69419647A>T | CA359922607 | MARVELD2 | c.262A>T (p.Asn88Tyr) | |
| 5 | g.69419648A= | CA1553915967 | MARVELD2 | c.263A= (p.Asn88=) | |
| 5 | g.69419648A>C | CA359922609 | MARVELD2 | c.263A>C (p.Asn88Thr) | |
| 5 | g.69419648A>G | CA3294007 | MARVELD2 | c.263A>G (p.Asn88Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419648A>T | CA359922612 | MARVELD2 | c.263A>T (p.Asn88Ile) | |
| 5 | g.69419649C>A | CA359922615 | MARVELD2 | c.264C>A (p.Asn88Lys) | dbSNP |
| 5 | g.69419649C= | CA1553915970 | MARVELD2 | c.264C= (p.Asn88=) | |
| 5 | g.69419649C>G | CA359922618 | MARVELD2 | c.264C>G (p.Asn88Lys) | |
| 5 | g.69419649C>T | CA445083333 | MARVELD2 | c.264C>T (p.Asn88=) | |
| 5 | g.69419650T>A | CA359922624 | MARVELD2 | c.265T>A (p.Phe89Ile) | gnomAD v4 |
| 5 | g.69419650T>C | CA359922627 | MARVELD2 | c.265T>C (p.Phe89Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419650T>G | CA359922630 | MARVELD2 | c.265T>G (p.Phe89Val) | |
| 5 | g.69419650T= | CA1553915974 | MARVELD2 | c.265T= (p.Phe89=) | |
| 5 | g.69419651T>A | CA359922639 | MARVELD2 | c.266T>A (p.Phe89Tyr) | |
| 5 | g.69419651T>C | CA359922641 | MARVELD2 | c.266T>C (p.Phe89Ser) | |
| 5 | g.69419651T>G | CA359922638 | MARVELD2 | c.266T>G (p.Phe89Cys) | |
| 5 | g.69419652T>A | CA359922643 | MARVELD2 | c.267T>A (p.Phe89Leu) | |
| 5 | g.69419652T>C | CA445083334 | MARVELD2 | c.267T>C (p.Phe89=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419652T>G | CA359922645 | MARVELD2 | c.267T>G (p.Phe89Leu) | |
| 5 | g.69419652T= | CA1553915977 | MARVELD2 | c.267T= (p.Phe89=) | |
| 5 | g.69419653T>A | CA359922647 | MARVELD2 | c.268T>A (p.Phe90Ile) | |
| 5 | g.69419653T>C | CA359922649 | MARVELD2 | c.268T>C (p.Phe90Leu) | |
| 5 | g.69419653T>G | CA359922651 | MARVELD2 | c.268T>G (p.Phe90Val) | gnomAD v4 |
| 5 | g.69419654T>A | CA359922654 | MARVELD2 | c.269T>A (p.Phe90Tyr) | |
| 5 | g.69419654T>C | CA359922657 | MARVELD2 | c.269T>C (p.Phe90Ser) | |
| 5 | g.69419654T>G | CA359922658 | MARVELD2 | c.269T>G (p.Phe90Cys) | |
| 5 | g.69419655C>A | CA359922662 | MARVELD2 | c.270C>A (p.Phe90Leu) | |
| 5 | g.69419655C= | CA1553915979 | MARVELD2 | c.270C= (p.Phe90=) | |
| 5 | g.69419655C>G | CA3294008 | MARVELD2 | c.270C>G (p.Phe90Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69419655C>T | CA445083344 | MARVELD2 | c.270C>T (p.Phe90=) | |
| 5 | g.69419656A>C | CA445083348 | MARVELD2 | c.271A>C (p.Arg91=) | |
| 5 | g.69419656A>G | CA359922668 | MARVELD2 | c.271A>G (p.Arg91Gly) | |
| 5 | g.69419656A>T | CA359922670 | MARVELD2 | c.271A>T (p.Arg91Ter) | |
| 5 | g.69419657G>A | CA359922676 | MARVELD2 | c.272G>A (p.Arg91Lys) | gnomAD v4 |
| 5 | g.69419657G>C | CA359922678 | MARVELD2 | c.272G>C (p.Arg91Thr) | |
| 5 | g.69419657G>T | CA359922673 | MARVELD2 | c.272G>T (p.Arg91Ile) | |
| 5 | g.69419658A= | CA1553915985 | MARVELD2 | c.273A= (p.Arg91=) | |
| 5 | g.69419658A>C | CA359922683 | MARVELD2 | c.273A>C (p.Arg91Ser) | |
| 5 | g.69419658A>G | CA445083354 | MARVELD2 | c.273A>G (p.Arg91=) | |
| 5 | g.69419658A>T | CA3294009 | MARVELD2 | c.273A>T (p.Arg91Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419659G>A | CA359922689 | MARVELD2 | c.274G>A (p.Gly92Arg) | |
| 5 | g.69419659G>C | CA359922690 | MARVELD2 | c.274G>C (p.Gly92Arg) | |
| 5 | g.69419659G>T | CA359922693 | MARVELD2 | c.274G>T (p.Gly92Trp) | |
| 5 | g.69419660G>A | CA359922701 | MARVELD2 | c.275G>A (p.Gly92Glu) | |
| 5 | g.69419660G>C | CA359922697 | MARVELD2 | c.275G>C (p.Gly92Ala) | |
| 5 | g.69419660G>T | CA359922698 | MARVELD2 | c.275G>T (p.Gly92Val) | |
| 5 | g.69419661G>A | CA445083359 | MARVELD2 | c.276G>A (p.Gly92=) | |
| 5 | g.69419661G>C | CA445083360 | MARVELD2 | c.276G>C (p.Gly92=) | gnomAD v4 |
| 5 | g.69419661G>T | CA445083361 | MARVELD2 | c.276G>T (p.Gly92=) | gnomAD v4 |
| 5 | g.69419662A>C | CA359922703 | MARVELD2 | c.277A>C (p.Lys93Gln) | |
| 5 | g.69419662A>G | CA359922706 | MARVELD2 | c.277A>G (p.Lys93Glu) | gnomAD v4 COSMIC |
| 5 | g.69419662A>T | CA359922708 | MARVELD2 | c.277A>T (p.Lys93Ter) | |
| 5 | g.69419663A>C | CA359922713 | MARVELD2 | c.278A>C (p.Lys93Thr) | |
| 5 | g.69419663A>G | CA359922715 | MARVELD2 | c.278A>G (p.Lys93Arg) | gnomAD v4 |
| 5 | g.69419663A>T | CA359922718 | MARVELD2 | c.278A>T (p.Lys93Met) | |
| 5 | g.69419664G>A | CA445083363 | MARVELD2 | c.279G>A (p.Lys93=) | |
| 5 | g.69419664G>C | CA359922724 | MARVELD2 | c.279G>C (p.Lys93Asn) | |
| 5 | g.69419664G>T | CA359922721 | MARVELD2 | c.279G>T (p.Lys93Asn) | |
| 5 | g.69419665A>C | CA359922728 | MARVELD2 | c.280A>C (p.Lys94Gln) | |
| 5 | g.69419665A>G | CA359922733 | MARVELD2 | c.280A>G (p.Lys94Glu) | |
| 5 | g.69419665A>T | CA359922730 | MARVELD2 | c.280A>T (p.Lys94Ter) | |
| 5 | g.69419669del | CA2709348308 | MARVELD2 | c.284del (p.Lys95ArgfsTer?) | dbSNP |
| 5 | g.69419666A>C | CA359922737 | MARVELD2 | c.281A>C (p.Lys94Thr) | |
| 5 | g.69419666A>G | CA359922738 | MARVELD2 | c.281A>G (p.Lys94Arg) | |
| 5 | g.69419666A>T | CA359922741 | MARVELD2 | c.281A>T (p.Lys94Ile) | |
| 5 | g.69419667A>C | CA359922744 | MARVELD2 | c.282A>C (p.Lys94Asn) | |
| 5 | g.69419667A>G | CA445083372 | MARVELD2 | c.282A>G (p.Lys94=) | |
| 5 | g.69419667A>T | CA359922747 | MARVELD2 | c.282A>T (p.Lys94Asn) | |
| 5 | g.69419667_69419671delinsAAAGG | CA1553915990 | MARVELD2 | c.282_286delinsAAAGG (p.Lys94=) | |
| 5 | g.69419668A>C | CA359922750 | MARVELD2 | c.283A>C (p.Lys95Gln) | |
| 5 | g.69419668A>G | CA359922751 | MARVELD2 | c.283A>G (p.Lys95Glu) | |
| 5 | g.69419668A>T | CA359922752 | MARVELD2 | c.283A>T (p.Lys95Ter) | |
| 5 | g.69419669_69419672del | CA1077192010 | MARVELD2 | c.284_287del (p.Lys95ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69419669A>C | CA359922754 | MARVELD2 | c.284A>C (p.Lys95Thr) | |
| 5 | g.69419669A>G | CA359922758 | MARVELD2 | c.284A>G (p.Lys95Arg) | |
| 5 | g.69419669A>T | CA359922756 | MARVELD2 | c.284A>T (p.Lys95Met) | |
| 5 | g.69419670G>A | CA445083379 | MARVELD2 | c.285G>A (p.Lys95=) | |
| 5 | g.69419670G>C | CA359922761 | MARVELD2 | c.285G>C (p.Lys95Asn) | |
| 5 | g.69419670G>T | CA359922764 | MARVELD2 | c.285G>T (p.Lys95Asn) | |
| 5 | g.69419671G>A | CA359922767 | MARVELD2 | c.286G>A (p.Asp96Asn) | |
| 5 | g.69419671G>C | CA359922768 | MARVELD2 | c.286G>C (p.Asp96His) | |
| 5 | g.69419671G>T | CA359922769 | MARVELD2 | c.286G>T (p.Asp96Tyr) | |
| 5 | g.69419672A>C | CA359922773 | MARVELD2 | c.287A>C (p.Asp96Ala) | |
| 5 | g.69419672A>G | CA359922776 | MARVELD2 | c.287A>G (p.Asp96Gly) | |
| 5 | g.69419672A>T | CA359922774 | MARVELD2 | c.287A>T (p.Asp96Val) | gnomAD v4 |
| 5 | g.69419673C>A | CA176712 | MARVELD2 | c.288C>A (p.Asp96Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419673C= | CA1553915997 | MARVELD2 | c.288C= (p.Asp96=) | |
| 5 | g.69419673C>G | CA359922780 | MARVELD2 | c.288C>G (p.Asp96Glu) | COSMIC |
| 5 | g.69419673C>T | CA445083392 | MARVELD2 | c.288C>T (p.Asp96=) | |
| 5 | g.69419674C>A | CA359922783 | MARVELD2 | c.289C>A (p.Pro97Thr) | |
| 5 | g.69419674C= | CA1553916003 | MARVELD2 | c.289C= (p.Pro97=) | |
| 5 | g.69419674C>G | CA359922784 | MARVELD2 | c.289C>G (p.Pro97Ala) | |
| 5 | g.69419674C>T | CA359922786 | MARVELD2 | c.289C>T (p.Pro97Ser) | dbSNP |
| 5 | g.69419675C>A | CA3294010 | MARVELD2 | c.290C>A (p.Pro97His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419675C= | CA1553916007 | MARVELD2 | c.290C= (p.Pro97=) | |
| 5 | g.69419675C>G | CA359922791 | MARVELD2 | c.290C>G (p.Pro97Arg) | |
| 5 | g.69419675C>T | CA359922793 | MARVELD2 | c.290C>T (p.Pro97Leu) | |
| 5 | g.69419676C>A | CA445083394 | MARVELD2 | c.291C>A (p.Pro97=) | gnomAD v4 |
| 5 | g.69419676C= | CA1553916011 | MARVELD2 | c.291C= (p.Pro97=) | |
| 5 | g.69419676C>G | CA445083395 | MARVELD2 | c.291C>G (p.Pro97=) | |
| 5 | g.69419676C>T | CA3294011 | MARVELD2 | c.291C>T (p.Pro97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419677G>A | CA3294012 | MARVELD2 | c.292G>A (p.Glu98Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69419677G>C | CA359922798 | MARVELD2 | c.292G>C (p.Glu98Gln) | |
| 5 | g.69419677G= | CA1553916016 | MARVELD2 | c.292G= (p.Glu98=) | |
| 5 | g.69419677G>T | CA359922800 | MARVELD2 | c.292G>T (p.Glu98Ter) | |
| 5 | g.69419678A>C | CA359922804 | MARVELD2 | c.293A>C (p.Glu98Ala) | |
| 5 | g.69419678A>G | CA359922815 | MARVELD2 | c.293A>G (p.Glu98Gly) | gnomAD v4 |
| 5 | g.69419678A>T | CA359922812 | MARVELD2 | c.293A>T (p.Glu98Val) | |
| 5 | g.69419679A>C | CA359922818 | MARVELD2 | c.294A>C (p.Glu98Asp) | |
| 5 | g.69419679A>G | CA445083400 | MARVELD2 | c.294A>G (p.Glu98=) | gnomAD v4 |
| 5 | g.69419679A>T | CA359922821 | MARVELD2 | c.294A>T (p.Glu98Asp) | |
| 5 | g.69419680T>A | CA359922824 | MARVELD2 | c.295T>A (p.Trp99Arg) | |
| 5 | g.69419680T>C | CA359922825 | MARVELD2 | c.295T>C (p.Trp99Arg) | dbSNP |
| 5 | g.69419680T>G | CA359922826 | MARVELD2 | c.295T>G (p.Trp99Gly) | |
| 5 | g.69419680T= | CA1553916021 | MARVELD2 | c.295T= (p.Trp99=) | |
| 5 | g.69419681G>A | CA119991200 | MARVELD2 | c.296G>A (p.Trp99Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69419681G>C | CA359922829 | MARVELD2 | c.296G>C (p.Trp99Ser) | |
| 5 | g.69419681G= | CA1553916024 | MARVELD2 | c.296G= (p.Trp99=) | |
| 5 | g.69419681G>T | CA359922827 | MARVELD2 | c.296G>T (p.Trp99Leu) | |
| 5 | g.69419682G>A | CA359922832 | MARVELD2 | c.297G>A (p.Trp99Ter) | gnomAD v4 |
| 5 | g.69419682G>C | CA359922835 | MARVELD2 | c.297G>C (p.Trp99Cys) | |
| 5 | g.69419682G>T | CA359922836 | MARVELD2 | c.297G>T (p.Trp99Cys) | |
| 5 | g.69419683G>A | CA359922839 | MARVELD2 | c.298G>A (p.Asp100Asn) | |
| 5 | g.69419683G>C | CA359922843 | MARVELD2 | c.298G>C (p.Asp100His) | |
| 5 | g.69419683G>T | CA359922846 | MARVELD2 | c.298G>T (p.Asp100Tyr) | |
| 5 | g.69419684A>C | CA359922847 | MARVELD2 | c.299A>C (p.Asp100Ala) | |
| 5 | g.69419684A>G | CA359922853 | MARVELD2 | c.299A>G (p.Asp100Gly) | |
| 5 | g.69419684A>T | CA359922850 | MARVELD2 | c.299A>T (p.Asp100Val) | |
| 5 | g.69419685T>A | CA359922855 | MARVELD2 | c.300T>A (p.Asp100Glu) | |
| 5 | g.69419685T>C | CA445083419 | MARVELD2 | c.300T>C (p.Asp100=) | |
| 5 | g.69419685T>G | CA359922857 | MARVELD2 | c.300T>G (p.Asp100Glu) | |
| 5 | g.69419685T= | CA1553916029 | MARVELD2 | c.300T= (p.Asp100=) | |
| 5 | g.69419686A= | CA1553916032 | MARVELD2 | c.301A= (p.Lys101=) | |
| 5 | g.69419686A>C | CA359922862 | MARVELD2 | c.301A>C (p.Lys101Gln) | dbSNP |
| 5 | g.69419686A>G | CA359922865 | MARVELD2 | c.301A>G (p.Lys101Glu) | |
| 5 | g.69419686A>T | CA359922867 | MARVELD2 | c.301A>T (p.Lys101Ter) | dbSNP |
| 5 | g.69419687dup | CA3294013 | MARVELD2 | c.302dup (p.Pro102AlafsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69419687A>C | CA359922871 | MARVELD2 | c.302A>C (p.Lys101Thr) | |
| 5 | g.69419687A>G | CA359922874 | MARVELD2 | c.302A>G (p.Lys101Arg) | |
| 5 | g.69419687A>T | CA359922877 | MARVELD2 | c.302A>T (p.Lys101Met) | |
| 5 | g.69419688G>A | CA445083444 | MARVELD2 | c.303G>A (p.Lys101=) | |
| 5 | g.69419688G>C | CA359922882 | MARVELD2 | c.303G>C (p.Lys101Asn) | |
| 5 | g.69419688G>T | CA359922884 | MARVELD2 | c.303G>T (p.Lys101Asn) |