5 | g.69419568_69419569dup | CA813532219 | MARVELD2 | c.183_184dup (p.Tyr62SerfsTer11)
| dbSNP |
5 | g.69419570_69419572del | CA2674131172 | MARVELD2 | c.185_187del (p.Tyr62del)
| gnomAD v4 |
5 | g.69419568_69419578delinsCTACTCAAGTG | CA1553915866 | MARVELD2 | c.183_193delinsCTACTCAAGTG (p.Phe61=)
| |
5 | g.69419569T>A | CA359922239 | MARVELD2 | c.184T>A (p.Tyr62Asn)
| |
5 | g.69419569T>C | CA359922241 | MARVELD2 | c.184T>C (p.Tyr62His)
| |
5 | g.69419569T>G | CA359922243 | MARVELD2 | c.184T>G (p.Tyr62Asp)
| |
5 | g.69419569_69419578del | CA3293994 | MARVELD2 | c.184_193del (p.Tyr62ThrfsTer7)
| dbSNP ExAC |
5 | g.69419570A>C | CA359922246 | MARVELD2 | c.185A>C (p.Tyr62Ser)
| |
5 | g.69419570A>G | CA359922248 | MARVELD2 | c.185A>G (p.Tyr62Cys)
| |
5 | g.69419570A>T | CA359922250 | MARVELD2 | c.185A>T (p.Tyr62Phe)
| |
5 | g.69419571C>A | CA359922252 | MARVELD2 | c.186C>A (p.Tyr62Ter)
| |
5 | g.69419571C= | CA1553915873 | MARVELD2 | c.186C= (p.Tyr62=)
| |
5 | g.69419571C>G | CA359922254 | MARVELD2 | c.186C>G (p.Tyr62Ter)
| |
5 | g.69419571C>T | CA119991011 | MARVELD2 | c.186C>T (p.Tyr62=)
| ClinVar dbSNP gnomAD v4 |
5 | g.69419572T>A | CA359922259 | MARVELD2 | c.187T>A (p.Ser63Thr)
| |
5 | g.69419572T>C | CA359922261 | MARVELD2 | c.187T>C (p.Ser63Pro)
| |
5 | g.69419572T>G | CA359922256 | MARVELD2 | c.187T>G (p.Ser63Ala)
| |
5 | g.69419573C>A | CA3293996 | MARVELD2 | c.188C>A (p.Ser63Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.69419573C= | CA1553915876 | MARVELD2 | c.188C= (p.Ser63=)
| |
5 | g.69419573C>G | CA359922264 | MARVELD2 | c.188C>G (p.Ser63Ter)
| |
5 | g.69419573C>T | CA3293995 | MARVELD2 | c.188C>T (p.Ser63Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.69419574A= | CA1553915878 | MARVELD2 | c.189A= (p.Ser63=)
| |
5 | g.69419574A>C | CA445083181 | MARVELD2 | c.189A>C (p.Ser63=)
| |
5 | g.69419574A>G | CA445083183 | MARVELD2 | c.189A>G (p.Ser63=)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.69419574A>T | CA445083184 | MARVELD2 | c.189A>T (p.Ser63=)
| |
5 | g.69419575A>C | CA359922267 | MARVELD2 | c.190A>C (p.Ser64Arg)
| |
5 | g.69419575A>G | CA359922269 | MARVELD2 | c.190A>G (p.Ser64Gly)
| gnomAD v4 |
5 | g.69419575A>T | CA359922270 | MARVELD2 | c.190A>T (p.Ser64Cys)
| |
5 | g.69419576G>A | CA359922272 | MARVELD2 | c.191G>A (p.Ser64Asn)
| gnomAD v4 |
5 | g.69419576G>C | CA359922273 | MARVELD2 | c.191G>C (p.Ser64Thr)
| |
5 | g.69419576G>T | CA359922274 | MARVELD2 | c.191G>T (p.Ser64Ile)
| |
5 | g.69419577T>A | CA359922277 | MARVELD2 | c.192T>A (p.Ser64Arg)
| |
5 | g.69419577T>C | CA445083188 | MARVELD2 | c.192T>C (p.Ser64=)
| |
5 | g.69419577T>G | CA359922278 | MARVELD2 | c.192T>G (p.Ser64Arg)
| |
5 | g.69419578G>A | CA359922284 | MARVELD2 | c.193G>A (p.Asp65Asn)
| |
5 | g.69419578G>C | CA359922280 | MARVELD2 | c.193G>C (p.Asp65His)
| |
5 | g.69419578G>T | CA359922282 | MARVELD2 | c.193G>T (p.Asp65Tyr)
| |
5 | g.69419579A>C | CA359922286 | MARVELD2 | c.194A>C (p.Asp65Ala)
| |
5 | g.69419579A>G | CA359922287 | MARVELD2 | c.194A>G (p.Asp65Gly)
| |
5 | g.69419579A>T | CA359922288 | MARVELD2 | c.194A>T (p.Asp65Val)
| |
5 | g.69419580C>A | CA359922289 | MARVELD2 | c.195C>A (p.Asp65Glu)
| |
5 | g.69419580C>G | CA359922292 | MARVELD2 | c.195C>G (p.Asp65Glu)
| |
5 | g.69419580C>T | CA445083196 | MARVELD2 | c.195C>T (p.Asp65=)
| |
5 | g.69419581A>C | CA359922295 | MARVELD2 | c.196A>C (p.Thr66Pro)
| |
5 | g.69419581A>G | CA359922297 | MARVELD2 | c.196A>G (p.Thr66Ala)
| |
5 | g.69419581A>T | CA359922299 | MARVELD2 | c.196A>T (p.Thr66Ser)
| |
5 | g.69419582C>A | CA359922301 | MARVELD2 | c.197C>A (p.Thr66Lys)
| |
5 | g.69419582C>G | CA359922303 | MARVELD2 | c.197C>G (p.Thr66Arg)
| ClinVar |
5 | g.69419582C>T | CA359922305 | MARVELD2 | c.197C>T (p.Thr66Ile)
| gnomAD v4 |
5 | g.69419582_69419585delinsCAGA | CA1553915880 | MARVELD2 | c.197_200delinsCAGA (p.Thr66=)
| |
5 | g.69419583A>C | CA445083201 | MARVELD2 | c.198A>C (p.Thr66=)
| |
5 | g.69419583A>G | CA445083203 | MARVELD2 | c.198A>G (p.Thr66=)
| |
5 | g.69419583A>T | CA445083202 | MARVELD2 | c.198A>T (p.Thr66=)
| |
5 | g.69419587_69419589del | CA1077191978 | MARVELD2 | c.202_204del (p.Glu68del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.69419584G>A | CA359922309 | MARVELD2 | c.199G>A (p.Glu67Lys)
| |
5 | g.69419584G>C | CA359922311 | MARVELD2 | c.199G>C (p.Glu67Gln)
| |
5 | g.69419584G= | CA1553915883 | MARVELD2 | c.199G= (p.Glu67=)
| |
5 | g.69419584G>T | CA359922307 | MARVELD2 | c.199G>T (p.Glu67Ter)
| |
5 | g.69419584_69419585delinsGA | CA1553915885 | MARVELD2 | c.199_200delinsGA (p.Glu67=)
| |
5 | g.69419584_69419585insC | CA560299379 | MARVELD2 | c.199_200insC (p.Glu67AlafsTer18)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.69419585A>C | CA359922315 | MARVELD2 | c.200A>C (p.Glu67Ala)
| |
5 | g.69419585A>G | CA359922313 | MARVELD2 | c.200A>G (p.Glu67Gly)
| |
5 | g.69419585A>T | CA359922314 | MARVELD2 | c.200A>T (p.Glu67Val)
| |
5 | g.69419586del | CA560299378 | MARVELD2 | c.201del (p.Glu68AsnfsTer4)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.69419586A>C | CA359922317 | MARVELD2 | c.201A>C (p.Glu67Asp)
| gnomAD v4 |
5 | g.69419586A>G | CA445083210 | MARVELD2 | c.201A>G (p.Glu67=)
| |
5 | g.69419586A>T | CA359922318 | MARVELD2 | c.201A>T (p.Glu67Asp)
| |
5 | g.69419587G>A | CA359922320 | MARVELD2 | c.202G>A (p.Glu68Lys)
| |
5 | g.69419587G>C | CA359922322 | MARVELD2 | c.202G>C (p.Glu68Gln)
| |
5 | g.69419587G>T | CA359922323 | MARVELD2 | c.202G>T (p.Glu68Ter)
| |
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)
| |