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)
| |
5 | g.69419689C>A | CA359922888 | MARVELD2 | c.304C>A (p.Pro102Thr)
| |
5 | g.69419689C= | CA1553916037 | MARVELD2 | c.304C= (p.Pro102=)
| |
5 | g.69419689C>G | CA119991218 | MARVELD2 | c.304C>G (p.Pro102Ala)
| dbSNP |
5 | g.69419689C>T | CA3294014 | MARVELD2 | c.304C>T (p.Pro102Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69419690C>A | CA359922896 | MARVELD2 | c.305C>A (p.Pro102Gln)
| |
5 | g.69419690C= | CA1553916041 | MARVELD2 | c.305C= (p.Pro102=)
| |
5 | g.69419690C>G | CA359922901 | MARVELD2 | c.305C>G (p.Pro102Arg)
| |
5 | g.69419690C>T | CA359922898 | MARVELD2 | c.305C>T (p.Pro102Leu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.69419691G>A | CA3294015 | MARVELD2 | c.306G>A (p.Pro102=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.69419691G>C | CA445083448 | MARVELD2 | c.306G>C (p.Pro102=)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.69419691G= | CA1553916047 | MARVELD2 | c.306G= (p.Pro102=)
| |
5 | g.69419691G>T | CA445083449 | MARVELD2 | c.306G>T (p.Pro102=)
| dbSNP gnomAD v2 |
5 | g.69419692del | CA2674131174 | MARVELD2 | c.307del (p.Val103CysfsTer?)
| gnomAD v4 |
5 | g.69419692G>A | CA359922907 | MARVELD2 | c.307G>A (p.Val103Met)
| |
5 | g.69419692G>C | CA359922908 | MARVELD2 | c.307G>C (p.Val103Leu)
| |
5 | g.69419692G>T | CA359922910 | MARVELD2 | c.307G>T (p.Val103Leu)
| gnomAD v4 |
5 | g.69419693T>A | CA359922912 | MARVELD2 | c.308T>A (p.Val103Glu)
| |
5 | g.69419693T>C | CA359922914 | MARVELD2 | c.308T>C (p.Val103Ala)
| |
5 | g.69419693T>G | CA359922919 | MARVELD2 | c.308T>G (p.Val103Gly)
| |
5 | g.69419694G>A | CA3294016 | MARVELD2 | c.309G>A (p.Val103=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69419694G>C | CA445083459 | MARVELD2 | c.309G>C (p.Val103=)
| |
5 | g.69419694G= | CA1553916053 | MARVELD2 | c.309G= (p.Val103=)
| |
5 | g.69419694G>T | CA445083460 | MARVELD2 | c.309G>T (p.Val103=)
| |
5 | g.69419695T>A | CA359922931 | MARVELD2 | c.310T>A (p.Ser104Thr)
| |
5 | g.69419695T>C | CA359922932 | MARVELD2 | c.310T>C (p.Ser104Pro)
| |
5 | g.69419695T>G | CA359922937 | MARVELD2 | c.310T>G (p.Ser104Ala)
| |
5 | g.69419696C>A | CA359922947 | MARVELD2 | c.311C>A (p.Ser104Tyr)
| |
5 | g.69419696C= | CA1553916057 | MARVELD2 | c.311C= (p.Ser104=)
| |
5 | g.69419696C>G | CA359922945 | MARVELD2 | c.311C>G (p.Ser104Cys)
| |
5 | g.69419696C>T | CA359922942 | MARVELD2 | c.311C>T (p.Ser104Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69419697T>A | CA445083174 | MARVELD2 | c.312T>A (p.Ser104=)
| |
5 | g.69419697T>C | CA445083176 | MARVELD2 | c.312T>C (p.Ser104=)
| |
5 | g.69419697T>G | CA445083178 | MARVELD2 | c.312T>G (p.Ser104=)
| |
5 | g.69419698G>A | CA359922950 | MARVELD2 | c.313G>A (p.Asp105Asn)
| |
5 | g.69419698G>C | CA359922952 | MARVELD2 | c.313G>C (p.Asp105His)
| COSMIC |
5 | g.69419698G>T | CA359922954 | MARVELD2 | c.313G>T (p.Asp105Tyr)
| |