| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.69420125A>C | CA359924389 | MARVELD2 | c.740A>C (p.Tyr247Ser) c.725+15A>C (n.725+15A>C) | |
| 5 | g.69420125A>G | CA359924388 | MARVELD2 | c.740A>G (p.Tyr247Cys) c.725+15A>G (n.725+15A>G) | |
| 5 | g.69420125A>T | CA359924387 | MARVELD2 | c.740A>T (p.Tyr247Phe) c.725+15A>T (n.725+15A>T) | |
| 5 | g.69420126C>A | CA359924391 | MARVELD2 | c.741C>A (p.Tyr247Ter) c.725+16C>A (n.725+16C>A) | |
| 5 | g.69420126C>G | CA359924390 | MARVELD2 | c.741C>G (p.Tyr247Ter) c.725+16C>G (n.725+16C>G) | |
| 5 | g.69420126C>T | CA445084014 | MARVELD2 | c.741C>T (p.Tyr247=) c.725+16C>T (n.725+16C>T) | |
| 5 | g.69420127T>A | CA359924392 | MARVELD2 | c.742T>A (p.Tyr248Asn) c.725+17T>A (n.725+17T>A) | |
| 5 | g.69420127T>C | CA359924393 | MARVELD2 | c.742T>C (p.Tyr248His) c.725+17T>C (n.725+17T>C) | |
| 5 | g.69420127T>G | CA359924394 | MARVELD2 | c.742T>G (p.Tyr248Asp) c.725+17T>G (n.725+17T>G) | |
| 5 | g.69420128A= | CA1553916927 | MARVELD2 | c.743A= (p.Tyr248=) c.725+18A= (n.725+18A=) | |
| 5 | g.69420128A>C | CA359924395 | MARVELD2 | c.743A>C (p.Tyr248Ser) c.725+18A>C (n.725+18A>C) | |
| 5 | g.69420128A>G | CA10624884 | MARVELD2 | c.743A>G (p.Tyr248Cys) c.725+18A>G (n.725+18A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.69420128A>T | CA359924396 | MARVELD2 | c.743A>T (p.Tyr248Phe) c.725+18A>T (n.725+18A>T) | |
| 5 | g.69420129C>A | CA359924398 | MARVELD2 | c.744C>A (p.Tyr248Ter) c.725+19C>A (n.725+19C>A) | |
| 5 | g.69420129C= | CA1553916929 | MARVELD2 | c.744C= (p.Tyr248=) c.725+19C= (n.725+19C=) | |
| 5 | g.69420129C>G | CA359924397 | MARVELD2 | c.744C>G (p.Tyr248Ter) c.725+19C>G (n.725+19C>G) | |
| 5 | g.69420129C>T | CA119991952 | MARVELD2 | c.744C>T (p.Tyr248=) c.725+19C>T (n.725+19C>T) | dbSNP |
| 5 | g.69420130A>C | CA359924399 | MARVELD2 | c.745A>C (p.Thr249Pro) c.725+20A>C (n.725+20A>C) | |
| 5 | g.69420130A>G | CA359924400 | MARVELD2 | c.745A>G (p.Thr249Ala) c.725+20A>G (n.725+20A>G) | |
| 5 | g.69420130A>T | CA359924401 | MARVELD2 | c.745A>T (p.Thr249Ser) c.725+20A>T (n.725+20A>T) | |
| 5 | g.69420131C>A | CA359924402 | MARVELD2 | c.746C>A (p.Thr249Asn) c.725+21C>A (n.725+21C>A) | |
| 5 | g.69420131C>G | CA359924403 | MARVELD2 | c.746C>G (p.Thr249Ser) c.725+21C>G (n.725+21C>G) | |
| 5 | g.69420131C>T | CA359924404 | MARVELD2 | c.746C>T (p.Thr249Ile) c.725+21C>T (n.725+21C>T) | |
| 5 | g.69420132T>A | CA445084027 | MARVELD2 | c.747T>A (p.Thr249=) c.725+22T>A (n.725+22T>A) | |
| 5 | g.69420132T>C | CA445084029 | MARVELD2 | c.747T>C (p.Thr249=) c.725+22T>C (n.725+22T>C) | |
| 5 | g.69420132T>G | CA445084028 | MARVELD2 | c.747T>G (p.Thr249=) c.725+22T>G (n.725+22T>G) | |
| 5 | g.69420133G>A | CA359924405 | MARVELD2 | c.748G>A (p.Gly250Ser) c.725+23G>A (n.725+23G>A) | gnomAD v4 |
| 5 | g.69420133G>C | CA359924407 | MARVELD2 | c.748G>C (p.Gly250Arg) c.725+23G>C (n.725+23G>C) | |
| 5 | g.69420133G>T | CA359924406 | MARVELD2 | c.748G>T (p.Gly250Cys) c.725+23G>T (n.725+23G>T) | |
| 5 | g.69420134G>A | CA359924408 | MARVELD2 | c.749G>A (p.Gly250Asp) c.725+24G>A (n.725+24G>A) | gnomAD v4 |
| 5 | g.69420134G>C | CA359924409 | MARVELD2 | c.749G>C (p.Gly250Ala) c.725+24G>C (n.725+24G>C) | |
| 5 | g.69420134G>T | CA359924410 | MARVELD2 | c.749G>T (p.Gly250Val) c.725+24G>T (n.725+24G>T) | |
| 5 | g.69420135C>A | CA445084035 | MARVELD2 | c.750C>A (p.Gly250=) c.725+25C>A (n.725+25C>A) | |
| 5 | g.69420135C>G | CA445084036 | MARVELD2 | c.750C>G (p.Gly250=) c.725+25C>G (n.725+25C>G) | |
| 5 | g.69420135C>T | CA445084037 | MARVELD2 | c.750C>T (p.Gly250=) c.725+25C>T (n.725+25C>T) | gnomAD v4 |
| 5 | g.69420136C>A | CA359924411 | MARVELD2 | c.751C>A (p.Pro251Thr) c.725+26C>A (n.725+26C>A) | |
| 5 | g.69420136C>G | CA359924412 | MARVELD2 | c.751C>G (p.Pro251Ala) c.725+26C>G (n.725+26C>G) | |
| 5 | g.69420136C>T | CA359924413 | MARVELD2 | c.751C>T (p.Pro251Ser) c.725+26C>T (n.725+26C>T) | |
| 5 | g.69420137C>A | CA359924414 | MARVELD2 | c.752C>A (p.Pro251His) c.725+27C>A (n.725+27C>A) | |
| 5 | g.69420137C>G | CA359924415 | MARVELD2 | c.752C>G (p.Pro251Arg) c.725+27C>G (n.725+27C>G) | |
| 5 | g.69420137C>T | CA359924416 | MARVELD2 | c.752C>T (p.Pro251Leu) c.725+27C>T (n.725+27C>T) | |
| 5 | g.69420138T>A | CA445084041 | MARVELD2 | c.753T>A (p.Pro251=) c.725+28T>A (n.725+28T>A) | |
| 5 | g.69420138T>C | CA445084042 | MARVELD2 | c.753T>C (p.Pro251=) c.725+28T>C (n.725+28T>C) | |
| 5 | g.69420138T>G | CA445084044 | MARVELD2 | c.753T>G (p.Pro251=) c.725+28T>G (n.725+28T>G) | |
| 5 | g.69420139A= | CA1553916934 | MARVELD2 | c.754A= (p.Lys252=) c.725+29A= (n.725+29A=) | |
| 5 | g.69420139A>C | CA359924417 | MARVELD2 | c.754A>C (p.Lys252Gln) c.725+29A>C (n.725+29A>C) | |
| 5 | g.69420139A>G | CA359924418 | MARVELD2 | c.754A>G (p.Lys252Glu) c.725+29A>G (n.725+29A>G) | dbSNP |
| 5 | g.69420139A>T | CA359924419 | MARVELD2 | c.754A>T (p.Lys252Ter) c.725+29A>T (n.725+29A>T) | dbSNP |
| 5 | g.69420140A>C | CA359924420 | MARVELD2 | c.755A>C (p.Lys252Thr) c.725+30A>C (n.725+30A>C) | |
| 5 | g.69420140A>G | CA359924423 | MARVELD2 | c.755A>G (p.Lys252Arg) c.725+30A>G (n.725+30A>G) | |
| 5 | g.69420140A>T | CA359924421 | MARVELD2 | c.755A>T (p.Lys252Met) c.725+30A>T (n.725+30A>T) | |
| 5 | g.69420140_69420143delinsAGAC | CA1553916939 | MARVELD2 | c.755_758delinsAGAC (p.Lys252=) c.725+30_725+33delinsAGAC (n.725+30_725+33delinsAGAC) | |
| 5 | g.69420141G>A | CA119991963 | MARVELD2 | c.756G>A (p.Lys252=) c.725+31G>A (n.725+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420141G>C | CA359924425 | MARVELD2 | c.756G>C (p.Lys252Asn) c.725+31G>C (n.725+31G>C) | |
| 5 | g.69420141G= | CA1553916943 | MARVELD2 | c.756G= (p.Lys252=) c.725+31G= (n.725+31G=) | |
| 5 | g.69420141G>T | CA359924427 | MARVELD2 | c.756G>T (p.Lys252Asn) c.725+31G>T (n.725+31G>T) | |
| 5 | g.69420141_69420143del | CA813533451 | MARVELD2 | c.756_758del (p.Lys252_Thr253delinsAsn) c.725+31_725+33del (n.725+31_725+33del) | dbSNP |
| 5 | g.69420142A>C | CA359924428 | MARVELD2 | c.757A>C (p.Thr253Pro) c.725+32A>C (n.725+32A>C) | |
| 5 | g.69420142A>G | CA359924430 | MARVELD2 | c.757A>G (p.Thr253Ala) c.725+32A>G (n.725+32A>G) | |
| 5 | g.69420142A>T | CA359924432 | MARVELD2 | c.757A>T (p.Thr253Ser) c.725+32A>T (n.725+32A>T) | |
| 5 | g.69420143C>A | CA359924439 | MARVELD2 | c.758C>A (p.Thr253Asn) c.725+33C>A (n.725+33C>A) | |
| 5 | g.69420143C= | CA1553916946 | MARVELD2 | c.758C= (p.Thr253=) c.725+33C= (n.725+33C=) | |
| 5 | g.69420143C>G | CA359924437 | MARVELD2 | c.758C>G (p.Thr253Ser) c.725+33C>G (n.725+33C>G) | |
| 5 | g.69420143C>T | CA3294105 | MARVELD2 | c.758C>T (p.Thr253Ile) c.725+33C>T (n.725+33C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.69420144C>A | CA445084050 | MARVELD2 | c.759C>A (p.Thr253=) c.725+34C>A (n.725+34C>A) | |
| 5 | g.69420144C= | CA1553916949 | MARVELD2 | c.759C= (p.Thr253=) c.725+34C= (n.725+34C=) | |
| 5 | g.69420144C>G | CA445084052 | MARVELD2 | c.759C>G (p.Thr253=) c.725+34C>G (n.725+34C>G) | dbSNP |
| 5 | g.69420144C>T | CA445084053 | MARVELD2 | c.759C>T (p.Thr253=) c.725+34C>T (n.725+34C>T) | |
| 5 | g.69420145C>A | CA359924442 | MARVELD2 | c.760C>A (p.Pro254Thr) c.725+35C>A (n.725+35C>A) | |
| 5 | g.69420145C= | CA1553916953 | MARVELD2 | c.760C= (p.Pro254=) c.725+35C= (n.725+35C=) | |
| 5 | g.69420145C>G | CA3294106 | MARVELD2 | c.760C>G (p.Pro254Ala) c.725+35C>G (n.725+35C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420145C>T | CA3294107 | MARVELD2 | c.760C>T (p.Pro254Ser) c.725+35C>T (n.725+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.69420146C>A | CA359924446 | MARVELD2 | c.761C>A (p.Pro254His) c.725+36C>A (n.725+36C>A) | |
| 5 | g.69420146C>G | CA359924447 | MARVELD2 | c.761C>G (p.Pro254Arg) c.725+36C>G (n.725+36C>G) | gnomAD v4 |
| 5 | g.69420146C>T | CA359924449 | MARVELD2 | c.761C>T (p.Pro254Leu) c.725+36C>T (n.725+36C>T) | gnomAD v4 |
| 5 | g.69420147T>A | CA445084054 | MARVELD2 | c.762T>A (p.Pro254=) c.725+37T>A (n.725+37T>A) | |
| 5 | g.69420147T>C | CA445084056 | MARVELD2 | c.762T>C (p.Pro254=) c.725+37T>C (n.725+37T>C) | |
| 5 | g.69420147T>G | CA445084055 | MARVELD2 | c.762T>G (p.Pro254=) c.725+37T>G (n.725+37T>G) | |
| 5 | g.69420148T>A | CA359924451 | MARVELD2 | c.763T>A (p.Phe255Ile) c.725+38T>A (n.725+38T>A) | |
| 5 | g.69420148T>C | CA359924454 | MARVELD2 | c.763T>C (p.Phe255Leu) c.725+38T>C (n.725+38T>C) | |
| 5 | g.69420148T>G | CA359924452 | MARVELD2 | c.763T>G (p.Phe255Val) c.725+38T>G (n.725+38T>G) | |
| 5 | g.69420149T>A | CA359924456 | MARVELD2 | c.764T>A (p.Phe255Tyr) c.725+39T>A (n.725+39T>A) | |
| 5 | g.69420149T>C | CA359924458 | MARVELD2 | c.764T>C (p.Phe255Ser) c.725+39T>C (n.725+39T>C) | gnomAD v4 |
| 5 | g.69420149T>G | CA359924459 | MARVELD2 | c.764T>G (p.Phe255Cys) c.725+39T>G (n.725+39T>G) | |
| 5 | g.69420150T>A | CA359924461 | MARVELD2 | c.765T>A (p.Phe255Leu) c.725+40T>A (n.725+40T>A) | |
| 5 | g.69420150T>C | CA445084057 | MARVELD2 | c.765T>C (p.Phe255=) c.725+40T>C (n.725+40T>C) | |
| 5 | g.69420150T>G | CA359924463 | MARVELD2 | c.765T>G (p.Phe255Leu) c.725+40T>G (n.725+40T>G) | |
| 5 | g.69420151G>A | CA119991985 | MARVELD2 | c.766G>A (p.Val256Ile) c.725+41G>A (n.725+41G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420151G>C | CA359924466 | MARVELD2 | c.766G>C (p.Val256Leu) c.725+41G>C (n.725+41G>C) | |
| 5 | g.69420151G= | CA1553916958 | MARVELD2 | c.766G= (p.Val256=) c.725+41G= (n.725+41G=) | |
| 5 | g.69420151G>T | CA359924468 | MARVELD2 | c.766G>T (p.Val256Leu) c.725+41G>T (n.725+41G>T) | |
| 5 | g.69420152T>A | CA359924470 | MARVELD2 | c.767T>A (p.Val256Glu) c.725+42T>A (n.725+42T>A) | |
| 5 | g.69420152T>C | CA359924472 | MARVELD2 | c.767T>C (p.Val256Ala) c.725+42T>C (n.725+42T>C) | |
| 5 | g.69420152T>G | CA359924473 | MARVELD2 | c.767T>G (p.Val256Gly) c.725+42T>G (n.725+42T>G) | |
| 5 | g.69420153A>C | CA445084058 | MARVELD2 | c.768A>C (p.Val256=) c.725+43A>C (n.725+43A>C) | |
| 5 | g.69420153A>G | CA445084059 | MARVELD2 | c.768A>G (p.Val256=) c.725+43A>G (n.725+43A>G) | |
| 5 | g.69420153A>T | CA445084060 | MARVELD2 | c.768A>T (p.Val256=) c.725+43A>T (n.725+43A>T) | |
| 5 | g.69420154C>A | CA359924477 | MARVELD2 | c.769C>A (p.Leu257Ile) c.725+44C>A (n.725+44C>A) | |
| 5 | g.69420154C>G | CA359924479 | MARVELD2 | c.769C>G (p.Leu257Val) c.725+44C>G (n.725+44C>G) | |
| 5 | g.69420154C>T | CA359924475 | MARVELD2 | c.769C>T (p.Leu257Phe) c.725+44C>T (n.725+44C>T) | |
| 5 | g.69420155T>A | CA359924480 | MARVELD2 | c.770T>A (p.Leu257His) c.725+45T>A (n.725+45T>A) | |
| 5 | g.69420155T>C | CA359924482 | MARVELD2 | c.770T>C (p.Leu257Pro) c.725+45T>C (n.725+45T>C) | |
| 5 | g.69420155T>G | CA359924484 | MARVELD2 | c.770T>G (p.Leu257Arg) c.725+45T>G (n.725+45T>G) | |
| 5 | g.69420156C>A | CA445084061 | MARVELD2 | c.771C>A (p.Leu257=) c.725+46C>A (n.725+46C>A) | |
| 5 | g.69420156C= | CA1553916964 | MARVELD2 | c.771C= (p.Leu257=) c.725+46C= (n.725+46C=) | |
| 5 | g.69420156C>G | CA445084062 | MARVELD2 | c.771C>G (p.Leu257=) c.725+46C>G (n.725+46C>G) | |
| 5 | g.69420156C>T | CA3294108 | MARVELD2 | c.771C>T (p.Leu257=) c.725+46C>T (n.725+46C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420157G>A | CA3294109 | MARVELD2 | c.772G>A (p.Val258Met) c.725+47G>A (n.725+47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420157G>C | CA359924488 | MARVELD2 | c.772G>C (p.Val258Leu) c.725+47G>C (n.725+47G>C) | |
| 5 | g.69420157G= | CA1553916972 | MARVELD2 | c.772G= (p.Val258=) c.725+47G= (n.725+47G=) | |
| 5 | g.69420157G>T | CA3294110 | MARVELD2 | c.772G>T (p.Val258Leu) c.725+47G>T (n.725+47G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420158T>A | CA359924495 | MARVELD2 | c.773T>A (p.Val258Glu) c.725+48T>A (n.725+48T>A) | |
| 5 | g.69420158T>C | CA359924491 | MARVELD2 | c.773T>C (p.Val258Ala) c.725+48T>C (n.725+48T>C) | |
| 5 | g.69420158T>G | CA359924493 | MARVELD2 | c.773T>G (p.Val258Gly) c.725+48T>G (n.725+48T>G) | |
| 5 | g.69420159G>A | CA445084064 | MARVELD2 | c.774G>A (p.Val258=) c.725+49G>A (n.725+49G>A) | |
| 5 | g.69420159G>C | CA445084065 | MARVELD2 | c.774G>C (p.Val258=) c.725+49G>C (n.725+49G>C) | |
| 5 | g.69420159G>T | CA445084063 | MARVELD2 | c.774G>T (p.Val258=) c.725+49G>T (n.725+49G>T) | |
| 5 | g.69420160G>A | CA359924496 | MARVELD2 | c.775G>A (p.Val259Ile) c.725+50G>A (n.725+50G>A) | |
| 5 | g.69420160G>C | CA359924498 | MARVELD2 | c.775G>C (p.Val259Leu) c.725+50G>C (n.725+50G>C) | |
| 5 | g.69420160G= | CA1553916978 | MARVELD2 | c.775G= (p.Val259=) c.725+50G= (n.725+50G=) | |
| 5 | g.69420160G>T | CA359924500 | MARVELD2 | c.775G>T (p.Val259Phe) c.725+50G>T (n.725+50G>T) | |
| 5 | g.69420161T>A | CA359924504 | MARVELD2 | c.776T>A (p.Val259Asp) c.725+51T>A (n.725+51T>A) | |
| 5 | g.69420161T>C | CA359924505 | MARVELD2 | c.776T>C (p.Val259Ala) c.725+51T>C (n.725+51T>C) | |
| 5 | g.69420161T>G | CA359924506 | MARVELD2 | c.776T>G (p.Val259Gly) c.725+51T>G (n.725+51T>G) | |
| 5 | g.69420162dup | CA1553916982 | MARVELD2 | c.777dup (p.Ala260CysfsTer28) c.725+52dup (n.725+52dup) | dbSNP gnomAD v4 |
| 5 | g.69420162T>A | CA445084066 | MARVELD2 | c.777T>A (p.Val259=) c.725+52T>A (n.725+52T>A) | |
| 5 | g.69420162T>C | CA445084067 | MARVELD2 | c.777T>C (p.Val259=) c.725+52T>C (n.725+52T>C) | |
| 5 | g.69420162T>G | CA445084068 | MARVELD2 | c.777T>G (p.Val259=) c.725+52T>G (n.725+52T>G) | |
| 5 | g.69420163G>A | CA359924508 | MARVELD2 | c.778G>A (p.Ala260Thr) c.725+53G>A (n.725+53G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420163G>C | CA359924511 | MARVELD2 | c.778G>C (p.Ala260Pro) c.725+53G>C (n.725+53G>C) | |
| 5 | g.69420163G= | CA1553916985 | MARVELD2 | c.778G= (p.Ala260=) c.725+53G= (n.725+53G=) | |
| 5 | g.69420163G>T | CA359924510 | MARVELD2 | c.778G>T (p.Ala260Ser) c.725+53G>T (n.725+53G>T) | |
| 5 | g.69420164C>A | CA359924514 | MARVELD2 | c.779C>A (p.Ala260Asp) c.725+54C>A (n.725+54C>A) | |
| 5 | g.69420164C>G | CA359924516 | MARVELD2 | c.779C>G (p.Ala260Gly) c.725+54C>G (n.725+54C>G) | |
| 5 | g.69420164C>T | CA359924517 | MARVELD2 | c.779C>T (p.Ala260Val) c.725+54C>T (n.725+54C>T) | |
| 5 | g.69420165T>A | CA445084069 | MARVELD2 | c.780T>A (p.Ala260=) c.725+55T>A (n.725+55T>A) | |
| 5 | g.69420165T>C | CA445084070 | MARVELD2 | c.780T>C (p.Ala260=) c.725+55T>C (n.725+55T>C) | |
| 5 | g.69420165T>G | CA445084071 | MARVELD2 | c.780T>G (p.Ala260=) c.725+55T>G (n.725+55T>G) | |
| 5 | g.69420166G>A | CA359924519 | MARVELD2 | c.781G>A (p.Gly261Arg) c.725+56G>A (n.725+56G>A) | |
| 5 | g.69420166G>C | CA359924521 | MARVELD2 | c.781G>C (p.Gly261Arg) c.725+56G>C (n.725+56G>C) | |
| 5 | g.69420166G>T | CA359924523 | MARVELD2 | c.781G>T (p.Gly261Ter) c.725+56G>T (n.725+56G>T) | |
| 5 | g.69420167G>A | CA3294111 | MARVELD2 | c.782G>A (p.Gly261Glu) c.725+57G>A (n.725+57G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420167G>C | CA359924526 | MARVELD2 | c.782G>C (p.Gly261Ala) c.725+57G>C (n.725+57G>C) | |
| 5 | g.69420167G= | CA1553916989 | MARVELD2 | c.782G= (p.Gly261=) c.725+57G= (n.725+57G=) | |
| 5 | g.69420167G>T | CA359924527 | MARVELD2 | c.782G>T (p.Gly261Val) c.725+57G>T (n.725+57G>T) | |
| 5 | g.69420168A= | CA1553916992 | MARVELD2 | c.783A= (p.Gly261=) c.725+58A= (n.725+58A=) | |
| 5 | g.69420168A>C | CA3294112 | MARVELD2 | c.783A>C (p.Gly261=) c.725+58A>C (n.725+58A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420168A>G | CA445084072 | MARVELD2 | c.783A>G (p.Gly261=) c.725+58A>G (n.725+58A>G) | |
| 5 | g.69420168A>T | CA445084073 | MARVELD2 | c.783A>T (p.Gly261=) c.725+58A>T (n.725+58A>T) | |
| 5 | g.69420169T>A | CA359924530 | MARVELD2 | c.784T>A (p.Leu262Ile) c.725+59T>A (n.725+59T>A) | |
| 5 | g.69420169T>C | CA445084074 | MARVELD2 | c.784T>C (p.Leu262=) c.725+59T>C (n.725+59T>C) | |
| 5 | g.69420169T>G | CA359924532 | MARVELD2 | c.784T>G (p.Leu262Val) c.725+59T>G (n.725+59T>G) | gnomAD v4 |
| 5 | g.69420170T>A | CA359924534 | MARVELD2 | c.785T>A (p.Leu262Ter) c.725+60T>A (n.725+60T>A) | |
| 5 | g.69420170T>C | CA359924538 | MARVELD2 | c.785T>C (p.Leu262Ser) c.725+60T>C (n.725+60T>C) | |
| 5 | g.69420170T>G | CA359924536 | MARVELD2 | c.785T>G (p.Leu262Ter) c.725+60T>G (n.725+60T>G) | |
| 5 | g.69420171A>C | CA359924539 | MARVELD2 | c.786A>C (p.Leu262Phe) c.725+61A>C (n.725+61A>C) | |
| 5 | g.69420171A>G | CA445084075 | MARVELD2 | c.786A>G (p.Leu262=) c.725+61A>G (n.725+61A>G) | |
| 5 | g.69420171A>T | CA359924541 | MARVELD2 | c.786A>T (p.Leu262Phe) c.725+61A>T (n.725+61A>T) | |
| 5 | g.69420172G>A | CA359924543 | MARVELD2 | c.787G>A (p.Ala263Thr) c.725+62G>A (n.725+62G>A) | |
| 5 | g.69420172G>C | CA3294113 | MARVELD2 | c.787G>C (p.Ala263Pro) c.725+62G>C (n.725+62G>C) | dbSNP ExAC gnomAD v2 |
| 5 | g.69420172G= | CA1553916998 | MARVELD2 | c.787G= (p.Ala263=) c.725+62G= (n.725+62G=) | |
| 5 | g.69420172G>T | CA359924545 | MARVELD2 | c.787G>T (p.Ala263Ser) c.725+62G>T (n.725+62G>T) | |
| 5 | g.69420173C>A | CA359924549 | MARVELD2 | c.788C>A (p.Ala263Asp) c.725+63C>A (n.725+63C>A) | |
| 5 | g.69420173C>G | CA359924547 | MARVELD2 | c.788C>G (p.Ala263Gly) c.725+63C>G (n.725+63C>G) | |
| 5 | g.69420173C>T | CA359924546 | MARVELD2 | c.788C>T (p.Ala263Val) c.725+63C>T (n.725+63C>T) | |
| 5 | g.69420174T>A | CA445084076 | MARVELD2 | c.789T>A (p.Ala263=) c.725+64T>A (n.725+64T>A) | |
| 5 | g.69420174T>C | CA445084077 | MARVELD2 | c.789T>C (p.Ala263=) c.725+64T>C (n.725+64T>C) | |
| 5 | g.69420174T>G | CA445084078 | MARVELD2 | c.789T>G (p.Ala263=) c.725+64T>G (n.725+64T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420174T= | CA1553917003 | MARVELD2 | c.789T= (p.Ala263=) c.725+64T= (n.725+64T=) | |
| 5 | g.69420174_69420196delinsTTGGATCACCACCATTATTATTC | CA1553917002 | MARVELD2 | c.789_811delinsTTGGATCACCACCATTATTATTC (p.Ala263=) c.725+64_725+86delinsTTGGATCACCACCATTATTATTC (n.725+64_725+86delinsTTGGATCACCACCATTATTATTC) | |
| 5 | g.69420175T>A | CA359924551 | MARVELD2 | c.790T>A (p.Trp264Arg) c.725+65T>A (n.725+65T>A) | |
| 5 | g.69420175T>C | CA359924553 | MARVELD2 | c.790T>C (p.Trp264Arg) c.725+65T>C (n.725+65T>C) | |
| 5 | g.69420175T>G | CA3294114 | MARVELD2 | c.790T>G (p.Trp264Gly) c.725+65T>G (n.725+65T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420175T= | CA1553917008 | MARVELD2 | c.790T= (p.Trp264=) c.725+65T= (n.725+65T=) | |
| 5 | g.69420178_69420199del | CA560299380 | MARVELD2 | c.793_814del (p.Ile265PhefsTer20) c.725+68_725+89del (n.725+68_725+89del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.69420176G>A | CA359924558 | MARVELD2 | c.791G>A (p.Trp264Ter) c.725+66G>A (n.725+66G>A) | |
| 5 | g.69420176G>C | CA359924560 | MARVELD2 | c.791G>C (p.Trp264Ser) c.725+66G>C (n.725+66G>C) | dbSNP gnomAD v4 |
| 5 | g.69420176G= | CA1553917010 | MARVELD2 | c.791G= (p.Trp264=) c.725+66G= (n.725+66G=) | |
| 5 | g.69420176G>T | CA119992011 | MARVELD2 | c.791G>T (p.Trp264Leu) c.725+66G>T (n.725+66G>T) | dbSNP |
| 5 | g.69420177G>A | CA359924563 | MARVELD2 | c.792G>A (p.Trp264Ter) c.725+67G>A (n.725+67G>A) | |
| 5 | g.69420177G>C | CA359924567 | MARVELD2 | c.792G>C (p.Trp264Cys) c.725+67G>C (n.725+67G>C) | |
| 5 | g.69420177G>T | CA359924565 | MARVELD2 | c.792G>T (p.Trp264Cys) c.725+67G>T (n.725+67G>T) | |
| 5 | g.69420178A= | CA1553917015 | MARVELD2 | c.793A= (p.Ile265=) c.725+68A= (n.725+68A=) | |
| 5 | g.69420178A>C | CA359924570 | MARVELD2 | c.793A>C (p.Ile265Leu) c.725+68A>C (n.725+68A>C) | |
| 5 | g.69420178A>G | CA119992033 | MARVELD2 | c.793A>G (p.Ile265Val) c.725+68A>G (n.725+68A>G) | dbSNP |
| 5 | g.69420178A>T | CA359924573 | MARVELD2 | c.793A>T (p.Ile265Phe) c.725+68A>T (n.725+68A>T) | |
| 5 | g.69420179T>A | CA359924575 | MARVELD2 | c.794T>A (p.Ile265Asn) c.725+69T>A (n.725+69T>A) | |
| 5 | g.69420179T>C | CA359924576 | MARVELD2 | c.794T>C (p.Ile265Thr) c.725+69T>C (n.725+69T>C) | |
| 5 | g.69420179T>G | CA359924578 | MARVELD2 | c.794T>G (p.Ile265Ser) c.725+69T>G (n.725+69T>G) | |
| 5 | g.69420180C>A | CA445084079 | MARVELD2 | c.795C>A (p.Ile265=) c.725+70C>A (n.725+70C>A) | |
| 5 | g.69420180C>G | CA359924579 | MARVELD2 | c.795C>G (p.Ile265Met) c.725+70C>G (n.725+70C>G) | |
| 5 | g.69420180C>T | CA445084080 | MARVELD2 | c.795C>T (p.Ile265=) c.725+70C>T (n.725+70C>T) | |
| 5 | g.69420181A>C | CA359924581 | MARVELD2 | c.796A>C (p.Thr266Pro) c.725+71A>C (n.725+71A>C) | |
| 5 | g.69420181A>G | CA359924583 | MARVELD2 | c.796A>G (p.Thr266Ala) c.725+71A>G (n.725+71A>G) | COSMIC |
| 5 | g.69420181A>T | CA359924585 | MARVELD2 | c.796A>T (p.Thr266Ser) c.725+71A>T (n.725+71A>T) | |
| 5 | g.69420182C>A | CA359924587 | MARVELD2 | c.797C>A (p.Thr266Asn) c.725+72C>A (n.725+72C>A) | |
| 5 | g.69420182C= | CA1553917019 | MARVELD2 | c.797C= (p.Thr266=) c.725+72C= (n.725+72C=) | |
| 5 | g.69420182C>G | CA359924589 | MARVELD2 | c.797C>G (p.Thr266Ser) c.725+72C>G (n.725+72C>G) | |
| 5 | g.69420182C>T | CA119992041 | MARVELD2 | c.797C>T (p.Thr266Ile) c.725+72C>T (n.725+72C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420182_69420184delinsCCA | CA1553917021 | MARVELD2 | c.797_799delinsCCA (p.Thr266=) c.725+72_725+74delinsCCA (n.725+72_725+74delinsCCA) | |
| 5 | g.69420183C>A | CA445084081 | MARVELD2 | c.798C>A (p.Thr266=) c.725+73C>A (n.725+73C>A) | |
| 5 | g.69420183C>G | CA445084082 | MARVELD2 | c.798C>G (p.Thr266=) c.725+73C>G (n.725+73C>G) | |
| 5 | g.69420183C>T | CA445084083 | MARVELD2 | c.798C>T (p.Thr266=) c.725+73C>T (n.725+73C>T) | |
| 5 | g.69420184_69420185del | CA3294115 | MARVELD2 | c.799_800del (p.Thr267HisfsTer20) c.725+74_725+75del (n.725+74_725+75del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420184A= | CA1553917030 | MARVELD2 | c.799A= (p.Thr267=) c.725+74A= (n.725+74A=) | |
| 5 | g.69420184A>C | CA359924596 | MARVELD2 | c.799A>C (p.Thr267Pro) c.725+74A>C (n.725+74A>C) | |
| 5 | g.69420184A>G | CA3294116 | MARVELD2 | c.799A>G (p.Thr267Ala) c.725+74A>G (n.725+74A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420184A>T | CA359924593 | MARVELD2 | c.799A>T (p.Thr267Ser) c.725+74A>T (n.725+74A>T) | |
| 5 | g.69420185C>A | CA359924598 | MARVELD2 | c.800C>A (p.Thr267Asn) c.725+75C>A (n.725+75C>A) | |
| 5 | g.69420185C= | CA1553917031 | MARVELD2 | c.800C= (p.Thr267=) c.725+75C= (n.725+75C=) | |
| 5 | g.69420185C>G | CA359924600 | MARVELD2 | c.800C>G (p.Thr267Ser) c.725+75C>G (n.725+75C>G) | |
| 5 | g.69420185C>T | CA3294117 | MARVELD2 | c.800C>T (p.Thr267Ile) c.725+75C>T (n.725+75C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420186C>A | CA445084084 | MARVELD2 | c.801C>A (p.Thr267=) c.725+76C>A (n.725+76C>A) | |
| 5 | g.69420186C= | CA1553917036 | MARVELD2 | c.801C= (p.Thr267=) c.725+76C= (n.725+76C=) | |
| 5 | g.69420186C>G | CA445084085 | MARVELD2 | c.801C>G (p.Thr267=) c.725+76C>G (n.725+76C>G) | |
| 5 | g.69420186C>T | CA3294118 | MARVELD2 | c.801C>T (p.Thr267=) c.725+76C>T (n.725+76C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420187A= | CA1553917039 | MARVELD2 | c.802A= (p.Ile268=) c.725+77A= (n.725+77A=) | |
| 5 | g.69420187A>C | CA359924605 | MARVELD2 | c.802A>C (p.Ile268Leu) c.725+77A>C (n.725+77A>C) | |
| 5 | g.69420187A>G | CA3294119 | MARVELD2 | c.802A>G (p.Ile268Val) c.725+77A>G (n.725+77A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.69420187A>T | CA359924608 | MARVELD2 | c.802A>T (p.Ile268Phe) c.725+77A>T (n.725+77A>T) | |
| 5 | g.69420187_69420188del | CA2578329379 | MARVELD2 | c.802_803del (p.Ile268TyrfsTer19) c.725+77_725+78del (n.725+77_725+78del) | |
| 5 | g.69420188T>A | CA359924611 | MARVELD2 | c.803T>A (p.Ile268Asn) c.725+78T>A (n.725+78T>A) | dbSNP |
| 5 | g.69420188T>C | CA359924613 | MARVELD2 | c.803T>C (p.Ile268Thr) c.725+78T>C (n.725+78T>C) | |
| 5 | g.69420188T>G | CA359924615 | MARVELD2 | c.803T>G (p.Ile268Ser) c.725+78T>G (n.725+78T>G) | |
| 5 | g.69420188T= | CA1553917042 | MARVELD2 | c.803T= (p.Ile268=) c.725+78T= (n.725+78T=) | |
| 5 | g.69420189T>A | CA445084087 | MARVELD2 | c.804T>A (p.Ile268=) c.725+79T>A (n.725+79T>A) | |
| 5 | g.69420189T>C | CA445084086 | MARVELD2 | c.804T>C (p.Ile268=) c.725+79T>C (n.725+79T>C) | |
| 5 | g.69420189T>G | CA359924617 | MARVELD2 | c.804T>G (p.Ile268Met) c.725+79T>G (n.725+79T>G) | |
| 5 | g.69420190A>C | CA359924619 | MARVELD2 | c.805A>C (p.Ile269Leu) c.725+80A>C (n.725+80A>C) | |
| 5 | g.69420190A>G | CA359924624 | MARVELD2 | c.805A>G (p.Ile269Val) c.725+80A>G (n.725+80A>G) | gnomAD v4 |
| 5 | g.69420190A>T | CA359924622 | MARVELD2 | c.805A>T (p.Ile269Phe) c.725+80A>T (n.725+80A>T) | |
| 5 | g.69420191T>A | CA359924626 | MARVELD2 | c.806T>A (p.Ile269Asn) c.725+81T>A (n.725+81T>A) | |
| 5 | g.69420191T>C | CA359924628 | MARVELD2 | c.806T>C (p.Ile269Thr) c.725+81T>C (n.725+81T>C) | |
| 5 | g.69420191T>G | CA359924630 | MARVELD2 | c.806T>G (p.Ile269Ser) c.725+81T>G (n.725+81T>G) | |
| 5 | g.69420192T>A | CA445084088 | MARVELD2 | c.807T>A (p.Ile269=) c.725+82T>A (n.725+82T>A) | |
| 5 | g.69420192T>C | CA445084089 | MARVELD2 | c.807T>C (p.Ile269=) c.725+82T>C (n.725+82T>C) | gnomAD v4 |
| 5 | g.69420192T>G | CA359924631 | MARVELD2 | c.807T>G (p.Ile269Met) c.725+82T>G (n.725+82T>G) | |
| 5 | g.69420193A= | CA1553917045 | MARVELD2 | c.808A= (p.Ile270=) c.725+83A= (n.725+83A=) | |
| 5 | g.69420193A>C | CA3294120 | MARVELD2 | c.808A>C (p.Ile270Leu) c.725+83A>C (n.725+83A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420193A>G | CA359924634 | MARVELD2 | c.808A>G (p.Ile270Val) c.725+83A>G (n.725+83A>G) | |
| 5 | g.69420193A>T | CA359924636 | MARVELD2 | c.808A>T (p.Ile270Phe) c.725+83A>T (n.725+83A>T) | |
| 5 | g.69420194T>A | CA359924638 | MARVELD2 | c.809T>A (p.Ile270Asn) c.725+84T>A (n.725+84T>A) | |
| 5 | g.69420194T>C | CA359924640 | MARVELD2 | c.809T>C (p.Ile270Thr) c.725+84T>C (n.725+84T>C) | |
| 5 | g.69420194T>G | CA359924642 | MARVELD2 | c.809T>G (p.Ile270Ser) c.725+84T>G (n.725+84T>G) | |
| 5 | g.69420195T>A | CA445084090 | MARVELD2 | c.810T>A (p.Ile270=) c.725+85T>A (n.725+85T>A) | |
| 5 | g.69420195T>C | CA445084091 | MARVELD2 | c.810T>C (p.Ile270=) c.725+85T>C (n.725+85T>C) | |
| 5 | g.69420195T>G | CA359924645 | MARVELD2 | c.810T>G (p.Ile270Met) c.725+85T>G (n.725+85T>G) | |
| 5 | g.69420196C>A | CA359924647 | MARVELD2 | c.811C>A (p.Leu271Met) c.725+86C>A (n.725+86C>A) | |
| 5 | g.69420196C>G | CA359924649 | MARVELD2 | c.811C>G (p.Leu271Val) c.725+86C>G (n.725+86C>G) | dbSNP gnomAD v4 |
| 5 | g.69420196C>T | CA445084092 | MARVELD2 | c.811C>T (p.Leu271=) c.725+86C>T (n.725+86C>T) | |
| 5 | g.69420197T>A | CA359924651 | MARVELD2 | c.812T>A (p.Leu271Gln) c.725+87T>A (n.725+87T>A) | |
| 5 | g.69420197T>C | CA359924653 | MARVELD2 | c.812T>C (p.Leu271Pro) c.725+87T>C (n.725+87T>C) | |
| 5 | g.69420197T>G | CA359924655 | MARVELD2 | c.812T>G (p.Leu271Arg) c.725+87T>G (n.725+87T>G) | |
| 5 | g.69420198G>A | CA445084093 | MARVELD2 | c.813G>A (p.Leu271=) c.725+88G>A (n.725+88G>A) | |
| 5 | g.69420198G>C | CA445084094 | MARVELD2 | c.813G>C (p.Leu271=) c.725+88G>C (n.725+88G>C) | dbSNP |
| 5 | g.69420198G= | CA1553917048 | MARVELD2 | c.813G= (p.Leu271=) c.725+88G= (n.725+88G=) | |
| 5 | g.69420198G>T | CA445084095 | MARVELD2 | c.813G>T (p.Leu271=) c.725+88G>T (n.725+88G>T) | |
| 5 | g.69420199G>A | CA359924657 | MARVELD2 | c.814G>A (p.Val272Ile) c.725+89G>A (n.725+89G>A) | |
| 5 | g.69420199G>C | CA359924659 | MARVELD2 | c.814G>C (p.Val272Leu) c.725+89G>C (n.725+89G>C) | |
| 5 | g.69420199G>T | CA359924661 | MARVELD2 | c.814G>T (p.Val272Phe) c.725+89G>T (n.725+89G>T) | |
| 5 | g.69420200T>A | CA359924662 | MARVELD2 | c.815T>A (p.Val272Asp) c.725+90T>A (n.725+90T>A) | |
| 5 | g.69420200T>C | CA359924663 | MARVELD2 | c.815T>C (p.Val272Ala) c.725+90T>C (n.725+90T>C) | COSMIC |
| 5 | g.69420200T>G | CA359924666 | MARVELD2 | c.815T>G (p.Val272Gly) c.725+90T>G (n.725+90T>G) | |
| 5 | g.69420201T>A | CA445084096 | MARVELD2 | c.816T>A (p.Val272=) c.725+91T>A (n.725+91T>A) | |
| 5 | g.69420201T>C | CA445084097 | MARVELD2 | c.816T>C (p.Val272=) c.725+91T>C (n.725+91T>C) | |
| 5 | g.69420201T>G | CA445084098 | MARVELD2 | c.816T>G (p.Val272=) c.725+91T>G (n.725+91T>G) | |
| 5 | g.69420202C>A | CA359924668 | MARVELD2 | c.817C>A (p.Leu273Ile) c.725+92C>A (n.725+92C>A) | |
| 5 | g.69420202C>G | CA359924670 | MARVELD2 | c.817C>G (p.Leu273Val) c.725+92C>G (n.725+92C>G) | |
| 5 | g.69420202C>T | CA359924672 | MARVELD2 | c.817C>T (p.Leu273Phe) c.725+92C>T (n.725+92C>T) | |
| 5 | g.69420203T>A | CA359924678 | MARVELD2 | c.818T>A (p.Leu273His) c.725+93T>A (n.725+93T>A) | |
| 5 | g.69420203T>C | CA359924676 | MARVELD2 | c.818T>C (p.Leu273Pro) c.725+93T>C (n.725+93T>C) | |
| 5 | g.69420203T>G | CA359924674 | MARVELD2 | c.818T>G (p.Leu273Arg) c.725+93T>G (n.725+93T>G) | |
| 5 | g.69420204T>A | CA445084099 | MARVELD2 | c.819T>A (p.Leu273=) c.725+94T>A (n.725+94T>A) | |
| 5 | g.69420204T>C | CA445084100 | MARVELD2 | c.819T>C (p.Leu273=) c.725+94T>C (n.725+94T>C) | |
| 5 | g.69420204T>G | CA445084101 | MARVELD2 | c.819T>G (p.Leu273=) c.725+94T>G (n.725+94T>G) | |
| 5 | g.69420205G>A | CA359924679 | MARVELD2 | c.820G>A (p.Gly274Ser) c.725+95G>A (n.725+95G>A) | |
| 5 | g.69420205G>C | CA359924680 | MARVELD2 | c.820G>C (p.Gly274Arg) c.725+95G>C (n.725+95G>C) | |
| 5 | g.69420205G>T | CA359924682 | MARVELD2 | c.820G>T (p.Gly274Cys) c.725+95G>T (n.725+95G>T) | |
| 5 | g.69420206G>A | CA359924685 | MARVELD2 | c.821G>A (p.Gly274Asp) c.725+96G>A (n.725+96G>A) | |
| 5 | g.69420206G>C | CA359924687 | MARVELD2 | c.821G>C (p.Gly274Ala) c.725+96G>C (n.725+96G>C) | gnomAD v4 |
| 5 | g.69420206G>T | CA359924689 | MARVELD2 | c.821G>T (p.Gly274Val) c.725+96G>T (n.725+96G>T) | |
| 5 | g.69420207C>A | CA445084102 | MARVELD2 | c.822C>A (p.Gly274=) c.725+97C>A (n.725+97C>A) | |
| 5 | g.69420207C>G | CA445084103 | MARVELD2 | c.822C>G (p.Gly274=) c.725+97C>G (n.725+97C>G) | |
| 5 | g.69420207C>T | CA445084104 | MARVELD2 | c.822C>T (p.Gly274=) c.725+97C>T (n.725+97C>T) | gnomAD v4 |
| 5 | g.69420208A>C | CA359924690 | MARVELD2 | c.823A>C (p.Met275Leu) c.725+98A>C (n.725+98A>C) | |
| 5 | g.69420208A>G | CA359924692 | MARVELD2 | c.823A>G (p.Met275Val) c.725+98A>G (n.725+98A>G) | |
| 5 | g.69420208A>T | CA359924694 | MARVELD2 | c.823A>T (p.Met275Leu) c.725+98A>T (n.725+98A>T) | |
| 5 | g.69420209T>A | CA359924697 | MARVELD2 | c.824T>A (p.Met275Lys) c.725+99T>A (n.725+99T>A) | |
| 5 | g.69420209T>C | CA359924698 | MARVELD2 | c.824T>C (p.Met275Thr) c.725+99T>C (n.725+99T>C) | |
| 5 | g.69420209T>G | CA359924699 | MARVELD2 | c.824T>G (p.Met275Arg) c.725+99T>G (n.725+99T>G) | |
| 5 | g.69420210G>A | CA359924705 | MARVELD2 | c.825G>A (p.Met275Ile) c.725+100G>A (n.725+100G>A) | |
| 5 | g.69420210G>C | CA359924704 | MARVELD2 | c.825G>C (p.Met275Ile) c.725+100G>C (n.725+100G>C) | |
| 5 | g.69420210G>T | CA359924703 | MARVELD2 | c.825G>T (p.Met275Ile) c.725+100G>T (n.725+100G>T) | |
| 5 | g.69420211T>A | CA359924708 | MARVELD2 | c.826T>A (p.Ser276Thr) c.725+101T>A (n.725+101T>A) | |
| 5 | g.69420211T>C | CA359924711 | MARVELD2 | c.826T>C (p.Ser276Pro) c.725+101T>C (n.725+101T>C) | gnomAD v4 |
| 5 | g.69420211T>G | CA359924709 | MARVELD2 | c.826T>G (p.Ser276Ala) c.725+101T>G (n.725+101T>G) | |
| 5 | g.69420212C>A | CA359924714 | MARVELD2 | c.827C>A (p.Ser276Tyr) c.725+102C>A (n.725+102C>A) | |
| 5 | g.69420212C>G | CA359924719 | MARVELD2 | c.827C>G (p.Ser276Cys) c.725+102C>G (n.725+102C>G) | |
| 5 | g.69420212C>T | CA359924716 | MARVELD2 | c.827C>T (p.Ser276Phe) c.725+102C>T (n.725+102C>T) | |
| 5 | g.69420213C>A | CA445083312 | MARVELD2 | c.828C>A (p.Ser276=) c.725+103C>A (n.725+103C>A) | |
| 5 | g.69420213C>G | CA445083311 | MARVELD2 | c.828C>G (p.Ser276=) c.725+103C>G (n.725+103C>G) | gnomAD v4 |
| 5 | g.69420213C>T | CA445083309 | MARVELD2 | c.828C>T (p.Ser276=) c.725+103C>T (n.725+103C>T) | |
| 5 | g.69420214A= | CA1553917049 | MARVELD2 | c.829A= (p.Met277=) c.725+104A= (n.725+104A=) | |
| 5 | g.69420214A>C | CA359924720 | MARVELD2 | c.829A>C (p.Met277Leu) c.725+104A>C (n.725+104A>C) | |
| 5 | g.69420214A>G | CA3294121 | MARVELD2 | c.829A>G (p.Met277Val) c.725+104A>G (n.725+104A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420214A>T | CA359924723 | MARVELD2 | c.829A>T (p.Met277Leu) c.725+104A>T (n.725+104A>T) | |
| 5 | g.69420215T>A | CA359924725 | MARVELD2 | c.830T>A (p.Met277Lys) c.725+105T>A (n.725+105T>A) | |
| 5 | g.69420215T>C | CA3294122 | MARVELD2 | c.830T>C (p.Met277Thr) c.725+105T>C (n.725+105T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420215T>G | CA359924727 | MARVELD2 | c.830T>G (p.Met277Arg) c.725+105T>G (n.725+105T>G) | |
| 5 | g.69420215T= | CA1553917050 | MARVELD2 | c.830T= (p.Met277=) c.725+105T= (n.725+105T=) | |
| 5 | g.69420216G>A | CA359924730 | MARVELD2 | c.831G>A (p.Met277Ile) c.725+106G>A (n.725+106G>A) | dbSNP |
| 5 | g.69420216G>C | CA359924731 | MARVELD2 | c.831G>C (p.Met277Ile) c.725+106G>C (n.725+106G>C) | |
| 5 | g.69420216G= | CA1553917051 | MARVELD2 | c.831G= (p.Met277=) c.725+106G= (n.725+106G=) | |
| 5 | g.69420216G>T | CA359924732 | MARVELD2 | c.831G>T (p.Met277Ile) c.725+106G>T (n.725+106G>T) | COSMIC |
| 5 | g.69420217T>A | CA359924735 | MARVELD2 | c.832T>A (p.Tyr278Asn) c.725+107T>A (n.725+107T>A) | |
| 5 | g.69420217T>C | CA359924737 | MARVELD2 | c.832T>C (p.Tyr278His) c.725+107T>C (n.725+107T>C) | |
| 5 | g.69420217T>G | CA359924739 | MARVELD2 | c.832T>G (p.Tyr278Asp) c.725+107T>G (n.725+107T>G) | |
| 5 | g.69420218A= | CA1553917055 | MARVELD2 | c.833A= (p.Tyr278=) c.725+108A= (n.725+108A=) | |
| 5 | g.69420218A>C | CA359924745 | MARVELD2 | c.833A>C (p.Tyr278Ser) c.725+108A>C (n.725+108A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420218A>G | CA359924741 | MARVELD2 | c.833A>G (p.Tyr278Cys) c.725+108A>G (n.725+108A>G) | dbSNP |
| 5 | g.69420218A>T | CA359924743 | MARVELD2 | c.833A>T (p.Tyr278Phe) c.725+108A>T (n.725+108A>T) | |
| 5 | g.69420219T>A | CA359924747 | MARVELD2 | c.834T>A (p.Tyr278Ter) c.725+109T>A (n.725+109T>A) | |
| 5 | g.69420219T>C | CA3294123 | MARVELD2 | c.834T>C (p.Tyr278=) c.725+109T>C (n.725+109T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420219T>G | CA359924750 | MARVELD2 | c.834T>G (p.Tyr278Ter) c.725+109T>G (n.725+109T>G) | |
| 5 | g.69420219T= | CA1553917059 | MARVELD2 | c.834T= (p.Tyr278=) c.725+109T= (n.725+109T=) | |
| 5 | g.69420220T>A | CA359924752 | MARVELD2 | c.835T>A (p.Tyr279Asn) c.725+110T>A (n.725+110T>A) | |
| 5 | g.69420220T>C | CA359924754 | MARVELD2 | c.835T>C (p.Tyr279His) c.725+110T>C (n.725+110T>C) | |
| 5 | g.69420220T>G | CA359924756 | MARVELD2 | c.835T>G (p.Tyr279Asp) c.725+110T>G (n.725+110T>G) | gnomAD v4 |
| 5 | g.69420221A>C | CA359924759 | MARVELD2 | c.836A>C (p.Tyr279Ser) c.725+111A>C (n.725+111A>C) | |
| 5 | g.69420221A>G | CA359924761 | MARVELD2 | c.836A>G (p.Tyr279Cys) c.725+111A>G (n.725+111A>G) | |
| 5 | g.69420221A>T | CA359924762 | MARVELD2 | c.836A>T (p.Tyr279Phe) c.725+111A>T (n.725+111A>T) | |
| 5 | g.69420222C>A | CA359924765 | MARVELD2 | c.837C>A (p.Tyr279Ter) c.725+112C>A (n.725+112C>A) | dbSNP gnomAD v2 |
| 5 | g.69420222C= | CA1553917063 | MARVELD2 | c.837C= (p.Tyr279=) c.725+112C= (n.725+112C=) | |
| 5 | g.69420222C>G | CA359924768 | MARVELD2 | c.837C>G (p.Tyr279Ter) c.725+112C>G (n.725+112C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.69420222C>T | CA3294124 | MARVELD2 | c.837C>T (p.Tyr279=) c.725+112C>T (n.725+112C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.69420223C>A | CA445083332 | MARVELD2 | c.838C>A (p.Arg280=) c.725+113C>A (n.725+113C>A) | |
| 5 | g.69420223C= | CA1553917066 | MARVELD2 | c.838C= (p.Arg280=) c.725+113C= (n.725+113C=) | |
| 5 | g.69420223C>G | CA359924772 | MARVELD2 | c.838C>G (p.Arg280Gly) c.725+113C>G (n.725+113C>G) | |
| 5 | g.69420223C>T | CA3294125 | MARVELD2 | c.838C>T (p.Arg280Trp) c.725+113C>T (n.725+113C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.69420224G>A | CA3294126 | MARVELD2 | c.839G>A (p.Arg280Gln) c.725+114G>A (n.725+114G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.69420224G>C | CA359924778 | MARVELD2 | c.839G>C (p.Arg280Pro) c.725+114G>C (n.725+114G>C) | |
| 5 | g.69420224G= | CA1553917070 | MARVELD2 | c.839G= (p.Arg280=) c.725+114G= (n.725+114G=) | |
| 5 | g.69420224G>T | CA359924775 | MARVELD2 | c.839G>T (p.Arg280Leu) c.725+114G>T (n.725+114G>T) | |
| 5 | g.69420225G>A | CA445083339 | MARVELD2 | c.840G>A (p.Arg280=) c.725+115G>A (n.725+115G>A) | |
| 5 | g.69420225G>C | CA445083340 | MARVELD2 | c.840G>C (p.Arg280=) c.725+115G>C (n.725+115G>C) | |
| 5 | g.69420225G>T | CA445083342 | MARVELD2 | c.840G>T (p.Arg280=) c.725+115G>T (n.725+115G>T) |