20 | g.3082742_3082777del | CA2651674361 | AVP | c.351_386del (p.Glu118_Arg129del)
| gnomAD v4 |
20 | g.3082746_3082752delinsTGGCGCG | CA2346405279 | AVP | c.373_379delinsCGCGCCA (p.Arg125=)
| |
20 | g.3082754_3082759dup | CA2651674362 | AVP | c.373_378dup (p.Ala126_Ser127insArgAla)
| gnomAD v4 |
20 | g.3082754_3082759del | CA2346405280 | AVP | c.373_378del (p.Arg125_Ala126del)
| dbSNP gnomAD v4 |
20 | g.3082758_3082845del | CA2651674363 | AVP | c.323-35_375del
| gnomAD v4 |
20 | g.3082752G>A | CA408061348 | AVP | c.373C>T (p.Arg125Cys)
| gnomAD v4 |
20 | g.3082752G>C | CA408061347 | AVP | c.373C>G (p.Arg125Gly)
| gnomAD v4 |
20 | g.3082752G= | CA2346405289 | AVP | c.373C= (p.Arg125=)
| |
20 | g.3082752G>T | CA408061346 | AVP | c.373C>A (p.Arg125Ser)
| dbSNP gnomAD v4 |
20 | g.3082754del | CA2651674365 | AVP | c.373del (p.Arg125AlafsTer?)
| gnomAD v4 |
20 | g.3082753G>A | CA509404283 | AVP | c.372C>T (p.Ala124=)
| gnomAD v4 |
20 | g.3082753G>C | CA509404281 | AVP | c.372C>G (p.Ala124=)
| |
20 | g.3082753G>T | CA509404279 | AVP | c.372C>A (p.Ala124=)
| gnomAD v4 |
20 | g.3082757_3082761del | CA2651674366 | AVP | c.368_372del (p.Arg123ProfsTer?)
| gnomAD v4 |
20 | g.3082754G>A | CA408061350 | AVP | c.371C>T (p.Ala124Val)
| gnomAD v4 |
20 | g.3082754G>C | CA408061349 | AVP | c.371C>G (p.Ala124Gly)
| dbSNP gnomAD v4 |
20 | g.3082754G= | CA2346405291 | AVP | c.371C= (p.Ala124=)
| |
20 | g.3082754G>T | CA408061351 | AVP | c.371C>A (p.Ala124Asp)
| gnomAD v4 |
20 | g.3082755C>A | CA408061352 | AVP | c.370G>T (p.Ala124Ser)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082755C= | CA2346405293 | AVP | c.370G= (p.Ala124=)
| |
20 | g.3082755C>G | CA408061354 | AVP | c.370G>C (p.Ala124Pro)
| gnomAD v4 |
20 | g.3082755C>T | CA408061353 | AVP | c.370G>A (p.Ala124Thr)
| dbSNP gnomAD v4 |
20 | g.3082761_3082778dup | CA2651674367 | AVP | c.353_370dup (p.Arg123_Ala124insGluGlyPheHisArgArg)
| gnomAD v4 |
20 | g.3082756G>A | CA509404289 | AVP | c.369C>T (p.Arg123=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082756G>C | CA509404291 | AVP | c.369C>G (p.Arg123=)
| |
20 | g.3082756G= | CA2346405296 | AVP | c.369C= (p.Arg123=)
| |
20 | g.3082756G>T | CA509404293 | AVP | c.369C>A (p.Arg123=)
| gnomAD v4 |
20 | g.3082757C>A | CA408061355 | AVP | c.368G>T (p.Arg123Leu)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082757C= | CA2346405300 | AVP | c.368G= (p.Arg123=)
| |
20 | g.3082757C>G | CA408061356 | AVP | c.368G>C (p.Arg123Pro)
| gnomAD v4 |
20 | g.3082757C>T | CA310942956 | AVP | c.368G>A (p.Arg123His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082758G>A | CA408061357 | AVP | c.367C>T (p.Arg123Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082758G>C | CA408061358 | AVP | c.367C>G (p.Arg123Gly)
| gnomAD v4 |
20 | g.3082758G= | CA2346405303 | AVP | c.367C= (p.Arg123=)
| |
20 | g.3082758G>T | CA310942959 | AVP | c.367C>A (p.Arg123Ser)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082759G>A | CA509404303 | AVP | c.366C>T (p.Arg122=)
| gnomAD v4 |
20 | g.3082759G>C | CA509404305 | AVP | c.366C>G (p.Arg122=)
| gnomAD v4 |
20 | g.3082759G>T | CA509404304 | AVP | c.366C>A (p.Arg122=)
| gnomAD v4 |
20 | g.3082760del | CA2651674368 | AVP | c.365del (p.Arg122ProfsTer?)
| gnomAD v4 |
20 | g.3082760C>A | CA408061359 | AVP | c.365G>T (p.Arg122Leu)
| gnomAD v4 |
20 | g.3082760C= | CA2346405305 | AVP | c.365G= (p.Arg122=)
| |
20 | g.3082760C>G | CA408061360 | AVP | c.365G>C (p.Arg122Pro)
| |
20 | g.3082760C>T | CA9739422 | AVP | c.365G>A (p.Arg122His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082764_3082791del | CA2651674369 | AVP | c.338_365del (p.Glu113AlafsTer?)
| gnomAD v4 |
20 | g.3082761G>A | CA408061361 | AVP | c.364C>T (p.Arg122Cys)
| gnomAD v4 |
20 | g.3082761G>C | CA408061362 | AVP | c.364C>G (p.Arg122Gly)
| |
20 | g.3082761G>T | CA408061363 | AVP | c.364C>A (p.Arg122Ser)
| gnomAD v4 |
20 | g.3082762G>A | CA9739423 | AVP | c.363C>T (p.His121=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082762G>C | CA408061364 | AVP | c.363C>G (p.His121Gln)
| gnomAD v4 |
20 | g.3082762G= | CA2346405309 | AVP | c.363C= (p.His121=)
| |
20 | g.3082762G>T | CA408061365 | AVP | c.363C>A (p.His121Gln)
| dbSNP gnomAD v4 |
20 | g.3082763T>A | CA408061366 | AVP | c.362A>T (p.His121Leu)
| |
20 | g.3082763T>C | CA408061367 | AVP | c.362A>G (p.His121Arg)
| gnomAD v4 |
20 | g.3082763T>G | CA408061368 | AVP | c.362A>C (p.His121Pro)
| |
20 | g.3082764del | CA2651674370 | AVP | c.361del (p.His121ThrfsTer?)
| gnomAD v4 |
20 | g.3082764G>A | CA310942968 | AVP | c.361C>T (p.His121Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082764G>C | CA408061369 | AVP | c.361C>G (p.His121Asp)
| gnomAD v4 |
20 | g.3082764G= | CA2346405311 | AVP | c.361C= (p.His121=)
| |
20 | g.3082764G>T | CA408061370 | AVP | c.361C>A (p.His121Asn)
| gnomAD v4 |
20 | g.3082765A>C | CA408061371 | AVP | c.360T>G (p.Phe120Leu)
| |
20 | g.3082765A>G | CA509404339 | AVP | c.360T>C (p.Phe120=)
| gnomAD v4 |
20 | g.3082765A>T | CA408061372 | AVP | c.360T>A (p.Phe120Leu)
| |
20 | g.3082767del | CA2651674371 | AVP | c.360del (p.His121ThrfsTer?)
| gnomAD v4 |
20 | g.3082766A>C | CA408061373 | AVP | c.359T>G (p.Phe120Cys)
| gnomAD v4 |
20 | g.3082766A>G | CA408061374 | AVP | c.359T>C (p.Phe120Ser)
| gnomAD v4 |
20 | g.3082766A>T | CA408061375 | AVP | c.359T>A (p.Phe120Tyr)
| gnomAD v4 |
20 | g.3082767A>C | CA408061378 | AVP | c.358T>G (p.Phe120Val)
| gnomAD v4 |
20 | g.3082767A>G | CA408061377 | AVP | c.358T>C (p.Phe120Leu)
| gnomAD v4 |
20 | g.3082767A>T | CA408061376 | AVP | c.358T>A (p.Phe120Ile)
| gnomAD v4 |
20 | g.3082768G>A | CA509404351 | AVP | c.357C>T (p.Gly119=)
| gnomAD v4 |
20 | g.3082768G>C | CA509404353 | AVP | c.357C>G (p.Gly119=)
| gnomAD v4 |
20 | g.3082768G>T | CA509404354 | AVP | c.357C>A (p.Gly119=)
| gnomAD v4 |
20 | g.3082769C>A | CA310942976 | AVP | c.356G>T (p.Gly119Val)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082769C= | CA2346405313 | AVP | c.356G= (p.Gly119=)
| |
20 | g.3082769C>G | CA408061379 | AVP | c.356G>C (p.Gly119Ala)
| gnomAD v4 |
20 | g.3082769C>T | CA408061380 | AVP | c.356G>A (p.Gly119Asp)
| dbSNP gnomAD v4 |
20 | g.3082771del | CA2651674372 | AVP | c.356del (p.Gly119AlafsTer?)
| gnomAD v4 |
20 | g.3082770C>A | CA408061381 | AVP | c.355G>T (p.Gly119Cys)
| gnomAD v4 |
20 | g.3082770C>G | CA408061382 | AVP | c.355G>C (p.Gly119Arg)
| |
20 | g.3082770C>T | CA408061383 | AVP | c.355G>A (p.Gly119Ser)
| gnomAD v4 |
20 | g.3082771C>A | CA408061385 | AVP | c.354G>T (p.Glu118Asp)
| gnomAD v4 |
20 | g.3082771C= | CA2346405315 | AVP | c.354G= (p.Glu118=)
| |
20 | g.3082771C>G | CA408061384 | AVP | c.354G>C (p.Glu118Asp)
| dbSNP gnomAD v4 |
20 | g.3082771C>T | CA509404372 | AVP | c.354G>A (p.Glu118=)
| dbSNP gnomAD v4 |
20 | g.3082772T>A | CA408061386 | AVP | c.353A>T (p.Glu118Val)
| ClinVar gnomAD v4 |
20 | g.3082772T>C | CA408061387 | AVP | c.353A>G (p.Glu118Gly)
| gnomAD v4 |
20 | g.3082772T>G | CA408061388 | AVP | c.353A>C (p.Glu118Ala)
| ClinVar gnomAD v4 |
20 | g.3082773C>A | CA408061389 | AVP | c.352G>T (p.Glu118Ter)
| gnomAD v4 |
20 | g.3082773C>G | CA408061390 | AVP | c.352G>C (p.Glu118Gln)
| gnomAD v4 |
20 | g.3082773C>T | CA408061391 | AVP | c.352G>A (p.Glu118Lys)
| gnomAD v4 |
20 | g.3082775_3082776del | CA2651674373 | AVP | c.351_352del (p.Glu118GlyfsTer?)
| gnomAD v4 |
20 | g.3082774G>A | CA509404390 | AVP | c.351C>T (p.Arg117=)
| gnomAD v4 |
20 | g.3082774G>C | CA509404387 | AVP | c.351C>G (p.Arg117=)
| gnomAD v4 |
20 | g.3082774G>T | CA509404389 | AVP | c.351C>A (p.Arg117=)
| gnomAD v4 |
20 | g.3082776_3082778del | CA2838210673 | AVP | c.349_351del (p.Arg117del)
| |
20 | g.3082775C>A | CA408061392 | AVP | c.350G>T (p.Arg117Leu)
| gnomAD v4 |
20 | g.3082775C= | CA2346405317 | AVP | c.350G= (p.Arg117=)
| |
20 | g.3082775C>G | CA408061393 | AVP | c.350G>C (p.Arg117Pro)
| gnomAD v4 |
20 | g.3082775C>T | CA310942988 | AVP | c.350G>A (p.Arg117His)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082776G>A | CA408061394 | AVP | c.349C>T (p.Arg117Cys)
| dbSNP gnomAD v4 |
20 | g.3082776G>C | CA408061395 | AVP | c.349C>G (p.Arg117Gly)
| dbSNP |
20 | g.3082776G= | CA2346405320 | AVP | c.349C= (p.Arg117=)
| |
20 | g.3082776G>T | CA408061396 | AVP | c.349C>A (p.Arg117Ser)
| gnomAD v4 |
20 | g.3082777G>A | CA509404400 | AVP | c.348C>T (p.Cys116=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082777G>C | CA408061397 | AVP | c.348C>G (p.Cys116Trp)
| gnomAD v4 |
20 | g.3082777G= | CA2346405322 | AVP | c.348C= (p.Cys116=)
| |
20 | g.3082777G>T | CA408061398 | AVP | c.348C>A (p.Cys116Ter)
| gnomAD v4 |
20 | g.3082778C>A | CA408061399 | AVP | c.347G>T (p.Cys116Phe)
| gnomAD v4 |
20 | g.3082778C>G | CA408061400 | AVP | c.347G>C (p.Cys116Ser)
| gnomAD v4 |
20 | g.3082778C>T | CA408061401 | AVP | c.347G>A (p.Cys116Tyr)
| ClinVar dbSNP gnomAD v4 |
20 | g.3082779del | CA2651674374 | AVP | c.346del (p.Cys116AlafsTer?)
| gnomAD v4 |
20 | g.3082779A= | CA2346405324 | AVP | c.346T= (p.Cys116=)
| |
20 | g.3082779A>C | CA121977 | AVP | c.346T>G (p.Cys116Gly)
| ClinVar dbSNP |
20 | g.3082779A>G | CA408061402 | AVP | c.346T>C (p.Cys116Arg)
| gnomAD v4 |
20 | g.3082779A>T | CA408061403 | AVP | c.346T>A (p.Cys116Ser)
| gnomAD v4 |
20 | g.3082780C>A | CA408061404 | AVP | c.345G>T (p.Glu115Asp)
| gnomAD v4 |
20 | g.3082780C= | CA2346405326 | AVP | c.345G= (p.Glu115=)
| |
20 | g.3082780C>G | CA408061405 | AVP | c.345G>C (p.Glu115Asp)
| gnomAD v4 |
20 | g.3082780C>T | CA509404416 | AVP | c.345G>A (p.Glu115=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082781T>A | CA408061406 | AVP | c.344A>T (p.Glu115Val)
| gnomAD v4 |
20 | g.3082781T>C | CA408061408 | AVP | c.344A>G (p.Glu115Gly)
| gnomAD v4 |
20 | g.3082781T>G | CA408061407 | AVP | c.344A>C (p.Glu115Ala)
| |
20 | g.3082782C>A | CA408061409 | AVP | c.343G>T (p.Glu115Ter)
| gnomAD v4 |
20 | g.3082782C>G | CA408061410 | AVP | c.343G>C (p.Glu115Gln)
| gnomAD v4 |
20 | g.3082782C>T | CA408061411 | AVP | c.343G>A (p.Glu115Lys)
| gnomAD v4 |
20 | g.3082782_3082783delinsAC | CA2695229213 | AVP | c.342_343delinsGT (p.Pro115Ter)
| |
20 | g.3082783G>A | CA509404428 | AVP | c.342C>T (p.Pro114=)
| dbSNP gnomAD v4 |
20 | g.3082783G>C | CA509404430 | AVP | c.342C>G (p.Pro114=)
| gnomAD v4 |
20 | g.3082783G= | CA2346405330 | AVP | c.342C= (p.Pro114=)
| |
20 | g.3082783G>T | CA509404431 | AVP | c.342C>A (p.Pro114=)
| dbSNP gnomAD v4 |
20 | g.3082785del | CA2651674375 | AVP | c.342del (p.Glu115SerfsTer?)
| gnomAD v4 |
20 | g.3082784G>A | CA408061412 | AVP | c.341C>T (p.Pro114Leu)
| gnomAD v4 |
20 | g.3082784G>C | CA408061413 | AVP | c.341C>G (p.Pro114Arg)
| |
20 | g.3082784G= | CA2346405335 | AVP | c.341C= (p.Pro114=)
| |
20 | g.3082784G>T | CA408061414 | AVP | c.341C>A (p.Pro114His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082785G>A | CA9739424 | AVP | c.340C>T (p.Pro114Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3082785G>C | CA408061415 | AVP | c.340C>G (p.Pro114Ala)
| gnomAD v4 |
20 | g.3082785G= | CA2346405337 | AVP | c.340C= (p.Pro114=)
| |
20 | g.3082785G>T | CA408061416 | AVP | c.340C>A (p.Pro114Thr)
| gnomAD v4 |
20 | g.3082786C>A | CA408061417 | AVP | c.339G>T (p.Glu113Asp)
| gnomAD v4 |
20 | g.3082786C>G | CA408061418 | AVP | c.339G>C (p.Glu113Asp)
| gnomAD v4 |
20 | g.3082786C>T | CA509554562 | AVP | c.339G>A (p.Glu113=)
| gnomAD v4 |
20 | g.3082786dup | CA2651674376 | AVP | c.339dup (p.Pro114AlafsTer?)
| gnomAD v4 |
20 | g.3082787T>A | CA408061421 | AVP | c.338A>T (p.Glu113Val)
| |
20 | g.3082787T>C | CA408061420 | AVP | c.338A>G (p.Glu113Gly)
| gnomAD v4 |
20 | g.3082787T>G | CA408061419 | AVP | c.338A>C (p.Glu113Ala)
| |
20 | g.3082788del | CA2651674377 | AVP | c.337del (p.Glu113SerfsTer?)
| gnomAD v4 |
20 | g.3082788C>A | CA121965 | AVP | c.337G>T (p.Glu113Ter)
| ClinVar dbSNP gnomAD v4 |
20 | g.3082788C= | CA2346405341 | AVP | c.337G= (p.Glu113=)
| |
20 | g.3082788C>G | CA408061422 | AVP | c.337G>C (p.Glu113Gln)
| |
20 | g.3082788C>T | CA9739425 | AVP | c.337G>A (p.Glu113Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082789G>A | CA509554566 | AVP | c.336C>T (p.Thr112=)
| gnomAD v4 |
20 | g.3082789G>C | CA509554567 | AVP | c.336C>G (p.Thr112=)
| |
20 | g.3082789G= | CA2346405343 | AVP | c.336C= (p.Thr112=)
| |
20 | g.3082789G>T | CA509554569 | AVP | c.336C>A (p.Thr112=)
| gnomAD v4 |
20 | g.3082790del | CA2651674378 | AVP | c.336del (p.Glu113SerfsTer?)
| gnomAD v4 |
20 | g.3082789_3082790insA | CA2346405345 | AVP | c.335_336insT (p.Glu113ArgfsTer?)
| dbSNP gnomAD v4 |
20 | g.3082790G>A | CA310943007 | AVP | c.335C>T (p.Thr112Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082790G>C | CA408061423 | AVP | c.335C>G (p.Thr112Ser)
| gnomAD v4 |
20 | g.3082790G= | CA2346405346 | AVP | c.335C= (p.Thr112=)
| |
20 | g.3082790G>T | CA408061424 | AVP | c.335C>A (p.Thr112Asn)
| gnomAD v4 |
20 | g.3082791T>A | CA408061425 | AVP | c.334A>T (p.Thr112Ser)
| gnomAD v4 |
20 | g.3082791T>C | CA408061426 | AVP | c.334A>G (p.Thr112Ala)
| gnomAD v4 |
20 | g.3082791T>G | CA408061427 | AVP | c.334A>C (p.Thr112Pro)
| |
20 | g.3082792C>A | CA509554575 | AVP | c.333G>T (p.Val111=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.3082792C= | CA2346405353 | AVP | c.333G= (p.Val111=)
| |
20 | g.3082792C>G | CA509554576 | AVP | c.333G>C (p.Val111=)
| gnomAD v4 |
20 | g.3082792C>T | CA509554577 | AVP | c.333G>A (p.Val111=)
| gnomAD v4 |
20 | g.3082793A= | CA2346405354 | AVP | c.332T= (p.Val111=)
| |
20 | g.3082793A>C | CA310943016 | AVP | c.332T>G (p.Val111Gly)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082793A>G | CA408061428 | AVP | c.332T>C (p.Val111Ala)
| dbSNP gnomAD v4 |
20 | g.3082793A>T | CA408061429 | AVP | c.332T>A (p.Val111Glu)
| gnomAD v4 |
20 | g.3082794C>A | CA408061431 | AVP | c.331G>T (p.Val111Leu)
| gnomAD v4 |
20 | g.3082794C= | CA2346405355 | AVP | c.331G= (p.Val111=)
| |
20 | g.3082794C>G | CA408061430 | AVP | c.331G>C (p.Val111Leu)
| gnomAD v4 |
20 | g.3082794C>T | CA310943022 | AVP | c.331G>A (p.Val111Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082795G>A | CA509554579 | AVP | c.330C>T (p.Cys110=)
| gnomAD v4 |
20 | g.3082795G>C | CA408061432 | AVP | c.330C>G (p.Cys110Trp)
| |
20 | g.3082795G>T | CA408061433 | AVP | c.330C>A (p.Cys110Ter)
| gnomAD v4 |
20 | g.3082796C>A | CA408061434 | AVP | c.329G>T (p.Cys110Phe)
| gnomAD v4 |
20 | g.3082796C= | CA2346405356 | AVP | c.329G= (p.Cys110=)
| |
20 | g.3082796C>G | CA408061435 | AVP | c.329G>C (p.Cys110Ser)
| |
20 | g.3082796C>T | CA16609034 | AVP | c.329G>A (p.Cys110Tyr)
| ClinVar dbSNP gnomAD v4 |
20 | g.3082797A>C | CA408061436 | AVP | c.328T>G (p.Cys110Gly)
| |
20 | g.3082797A>G | CA408061437 | AVP | c.328T>C (p.Cys110Arg)
| gnomAD v4 |
20 | g.3082797A>T | CA408061438 | AVP | c.328T>A (p.Cys110Ser)
| ClinVar gnomAD v4 |
20 | g.3082798G>A | CA509554584 | AVP | c.327C>T (p.Ser109=)
| dbSNP gnomAD v4 |
20 | g.3082798G>C | CA408061439 | AVP | c.327C>G (p.Ser109Arg)
| |
20 | g.3082798G>T | CA408061440 | AVP | c.327C>A (p.Ser109Arg)
| gnomAD v4 |
20 | g.3082799C>A | CA408061441 | AVP | c.326G>T (p.Ser109Ile)
| gnomAD v4 |
20 | g.3082799C>G | CA408061442 | AVP | c.326G>C (p.Ser109Thr)
| gnomAD v4 |
20 | g.3082799C>T | CA408061443 | AVP | c.326G>A (p.Ser109Asn)
| gnomAD v4 |
20 | g.3082800T>A | CA408061446 | AVP | c.325A>T (p.Ser109Cys)
| |
20 | g.3082800T>C | CA408061444 | AVP | c.325A>G (p.Ser109Gly)
| gnomAD v4 |
20 | g.3082800T>G | CA408061445 | AVP | c.325A>C (p.Ser109Arg)
| gnomAD v4 |
20 | g.3082801C>A | CA408061447 | AVP | c.324G>T (p.Glu108Asp)
| gnomAD v4 |
20 | g.3082801C>G | CA408061448 | AVP | c.324G>C (p.Glu108Asp)
| gnomAD v4 |
20 | g.3082801C>T | CA509554590 | AVP | c.324G>A (p.Glu108=)
| gnomAD v4 |
20 | g.3082802T>A | CA16620918 | AVP | c.323A>T (p.Glu108Val)
| ClinVar dbSNP gnomAD v4 |
20 | g.3082802T>C | CA408061449 | AVP | c.323A>G (p.Glu108Gly)
| gnomAD v4 |
20 | g.3082802T>G | CA408061450 | AVP | c.323A>C (p.Glu108Ala)
| dbSNP |
20 | g.3082802T= | CA2346405357 | AVP | c.323A= (p.Glu108=)
| |
20 | g.3082803C>A | CA408061451 | AVP | c.323-1G>T (n.323-1G>T)
| gnomAD v4 |
20 | g.3082803C>G | CA408061452 | AVP | c.323-1G>C (n.323-1G>C)
| gnomAD v4 |
20 | g.3082803C>T | CA408061453 | AVP | c.323-1G>A (n.323-1G>A)
| gnomAD v4 |
20 | g.3082804T>A | CA408061454 | AVP | c.323-2A>T (n.323-2A>T)
| gnomAD v4 |
20 | g.3082804T>C | CA408061455 | AVP | c.323-2A>G (n.323-2A>G)
| gnomAD v4 |
20 | g.3082804T>G | CA408061456 | AVP | c.323-2A>C (n.323-2A>C)
| |
20 | g.3082805G>A | CA1014830575 | AVP | c.323-3C>T (n.323-3C>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082805G>C | CA2651674379 | AVP | c.323-3C>G (n.323-3C>G)
| gnomAD v4 |
20 | g.3082805G= | CA2346405358 | AVP | c.323-3C= (n.323-3C=)
| |
20 | g.3082805G>T | CA2651674380 | AVP | c.323-3C>A (n.323-3C>A)
| gnomAD v4 |
20 | g.3082806C>A | CA2651674382 | AVP | c.323-4G>T (n.323-4G>T)
| gnomAD v4 |
20 | g.3082806C>G | CA2577322994 | AVP | c.323-4G>C (n.323-4G>C)
| gnomAD v4 |
20 | g.3082806C>T | CA2651674381 | AVP | c.323-4G>A (n.323-4G>A)
| gnomAD v4 |
20 | g.3082806_3082807del | CA2840430220 | AVP | c.323-5_323-4del (n.323-5_323-4del)
| |
20 | g.3082807C>A | CA2651674383 | AVP | c.323-5G>T (n.323-5G>T)
| gnomAD v4 |
20 | g.3082807C= | CA2346405359 | AVP | c.323-5G= (n.323-5G=)
| |
20 | g.3082807C>G | CA2577322995 | AVP | c.323-5G>C (n.323-5G>C)
| |
20 | g.3082807C>T | CA2346405360 | AVP | c.323-5G>A (n.323-5G>A)
| dbSNP gnomAD v4 |
20 | g.3082808G>A | CA2577322996 | AVP | c.323-6C>T (n.323-6C>T)
| gnomAD v4 |
20 | g.3082808G>T | CA2651674385 | AVP | c.323-6C>A (n.323-6C>A)
| gnomAD v4 |
20 | g.3082810del | CA2651674384 | AVP | c.323-6del (n.323-6del)
| gnomAD v4 |
20 | g.3082809G>A | CA2651674386 | AVP | c.323-7C>T (n.323-7C>T)
| gnomAD v4 |
20 | g.3082809G>C | CA2651674387 | AVP | c.323-7C>G (n.323-7C>G)
| gnomAD v4 |
20 | g.3082809G>T | CA2651674388 | AVP | c.323-7C>A (n.323-7C>A)
| gnomAD v4 |
20 | g.3082810G>A | CA2651674389 | AVP | c.323-8C>T (n.323-8C>T)
| gnomAD v4 |
20 | g.3082810G>C | CA2651674390 | AVP | c.323-8C>G (n.323-8C>G)
| gnomAD v4 |
20 | g.3082810G>T | CA2577322997 | AVP | c.323-8C>A (n.323-8C>A)
| gnomAD v4 |
20 | g.3082811A>C | CA2651674392 | AVP | c.323-9T>G (n.323-9T>G)
| gnomAD v4 |
20 | g.3082811A>G | CA2651674393 | AVP | c.323-9T>C (n.323-9T>C)
| gnomAD v4 |
20 | g.3082811A>T | CA2651674391 | AVP | c.323-9T>A (n.323-9T>A)
| gnomAD v4 |
20 | g.3082812G>A | CA2346405362 | AVP | c.323-10C>T (n.323-10C>T)
| dbSNP gnomAD v4 |
20 | g.3082812G= | CA2346405361 | AVP | c.323-10C= (n.323-10C=)
| |
20 | g.3082812G>T | CA2651674394 | AVP | c.323-10C>A (n.323-10C>A)
| gnomAD v4 |
20 | g.3082813G>A | CA743329770 | AVP | c.323-11C>T (n.323-11C>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082813G= | CA2346405363 | AVP | c.323-11C= (n.323-11C=)
| |
20 | g.3082813G>T | CA2651674395 | AVP | c.323-11C>A (n.323-11C>A)
| gnomAD v4 |
20 | g.3082814A>C | CA2697547264 | AVP | c.323-12T>G (n.323-12T>G)
| ClinVar |
20 | g.3082814A>G | CA2651674396 | AVP | c.323-12T>C (n.323-12T>C)
| gnomAD v4 |
20 | g.3082815C>A | CA2651674397 | AVP | c.323-13G>T (n.323-13G>T)
| gnomAD v4 |
20 | g.3082815C= | CA2346405364 | AVP | c.323-13G= (n.323-13G=)
| |
20 | g.3082815C>G | CA2651674398 | AVP | c.323-13G>C (n.323-13G>C)
| gnomAD v4 |
20 | g.3082815C>T | CA310943029 | AVP | c.323-13G>A (n.323-13G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082816G>A | CA743329776 | AVP | c.323-14C>T (n.323-14C>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082816G= | CA2346405365 | AVP | c.323-14C= (n.323-14C=)
| |
20 | g.3082816G>T | CA1014830580 | AVP | c.323-14C>A (n.323-14C>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082819_3082820del | CA2577322998 | AVP | c.323-15_323-14del (n.323-15_323-14del)
| |
20 | g.3082817T>A | CA2651674399 | AVP | c.323-15A>T (n.323-15A>T)
| gnomAD v4 |
20 | g.3082817T>C | CA2577322999 | AVP | c.323-15A>G (n.323-15A>G)
| gnomAD v4 |
20 | g.3082818G>A | CA2651674401 | AVP | c.323-16C>T (n.323-16C>T)
| gnomAD v4 |
20 | g.3082818G>C | CA2651674402 | AVP | c.323-16C>G (n.323-16C>G)
| gnomAD v4 |
20 | g.3082818G>T | CA2651674400 | AVP | c.323-16C>A (n.323-16C>A)
| gnomAD v4 |
20 | g.3082819T>A | CA2651674403 | AVP | c.323-17A>T (n.323-17A>T)
| gnomAD v4 |
20 | g.3082819T>C | CA2651674404 | AVP | c.323-17A>G (n.323-17A>G)
| gnomAD v4 |
20 | g.3082820G>A | CA2651674405 | AVP | c.323-18C>T (n.323-18C>T)
| gnomAD v4 |
20 | g.3082820G>C | CA2346405367 | AVP | c.323-18C>G (n.323-18C>G)
| dbSNP gnomAD v4 |
20 | g.3082820G= | CA2346405366 | AVP | c.323-18C= (n.323-18C=)
| |
20 | g.3082820G>T | CA2651674406 | AVP | c.323-18C>A (n.323-18C>A)
| gnomAD v4 |
20 | g.3082821A>G | CA2651674408 | AVP | c.323-19T>C (n.323-19T>C)
| gnomAD v4 |
20 | g.3082821A>T | CA2651674407 | AVP | c.323-19T>A (n.323-19T>A)
| gnomAD v4 |
20 | g.3082822G>A | CA2651674409 | AVP | c.323-20C>T (n.323-20C>T)
| gnomAD v4 |
20 | g.3082822G>C | CA2651674410 | AVP | c.323-20C>G (n.323-20C>G)
| gnomAD v4 |
20 | g.3082822G>T | CA2651674411 | AVP | c.323-20C>A (n.323-20C>A)
| gnomAD v4 |
20 | g.3082823del | CA2651674412 | AVP | c.323-21del (n.323-21del)
| gnomAD v4 |
20 | g.3082823C>A | CA2651674413 | AVP | c.323-21G>T (n.323-21G>T)
| gnomAD v4 |
20 | g.3082823C>G | CA2651674414 | AVP | c.323-21G>C (n.323-21G>C)
| gnomAD v4 |
20 | g.3082823C>T | CA2651674415 | AVP | c.323-21G>A (n.323-21G>A)
| gnomAD v4 |
20 | g.3082823_3082824insTC | CA2815070573 | AVP | c.323-21_323-20insAG (n.323-21_323-20insAG)
| |
20 | g.3082824A>G | CA2651674416 | AVP | c.323-22T>C (n.323-22T>C)
| gnomAD v4 |
20 | g.3082824A>T | CA2815070574 | AVP | c.323-22T>A (n.323-22T>A)
| |
20 | g.3082825C>A | CA2346405369 | AVP | c.323-23G>T (n.323-23G>T)
| dbSNP gnomAD v4 |
20 | g.3082825C= | CA2346405368 | AVP | c.323-23G= (n.323-23G=)
| |
20 | g.3082825C>G | CA2651674417 | AVP | c.323-23G>C (n.323-23G>C)
| gnomAD v4 |
20 | g.3082825C>T | CA2651674418 | AVP | c.323-23G>A (n.323-23G>A)
| gnomAD v4 |
20 | g.3082826G>A | CA2651674419 | AVP | c.323-24C>T (n.323-24C>T)
| gnomAD v4 |
20 | g.3082826G>C | CA634328975 | AVP | c.323-24C>G (n.323-24C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082826G= | CA2346405370 | AVP | c.323-24C= (n.323-24C=)
| |
20 | g.3082826G>T | CA2651674420 | AVP | c.323-24C>A (n.323-24C>A)
| gnomAD v4 |
20 | g.3082828del | CA2815070575 | AVP | c.323-24del (n.323-24del)
| |
20 | g.3082827G>A | CA310943033 | AVP | c.323-25C>T (n.323-25C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082827G= | CA2346405371 | AVP | c.323-25C= (n.323-25C=)
| |
20 | g.3082827G>T | CA2651674421 | AVP | c.323-25C>A (n.323-25C>A)
| gnomAD v4 |
20 | g.3082827_3082828insCCTCT | CA2815070576 | AVP | c.323-26_323-25insAGAGG (n.323-26_323-25insAGAGG)
| |
20 | g.3082828G>A | CA2651674422 | AVP | c.323-26C>T (n.323-26C>T)
| gnomAD v4 |
20 | g.3082828G>C | CA2651674423 | AVP | c.323-26C>G (n.323-26C>G)
| gnomAD v4 |
20 | g.3082828G>T | CA2651674424 | AVP | c.323-26C>A (n.323-26C>A)
| gnomAD v4 |
20 | g.3082828_3082829insGTCT | CA2815070577 | AVP | c.323-27_323-26insAGAC (n.323-27_323-26insAGAC)
| |
20 | g.3082829C>A | CA634328976 | AVP | c.323-27G>T (n.323-27G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3082829C= | CA2346405372 | AVP | c.323-27G= (n.323-27G=)
| |
20 | g.3082829C>G | CA2651674425 | AVP | c.323-27G>C (n.323-27G>C)
| gnomAD v4 |
20 | g.3082829C>T | CA2651674426 | AVP | c.323-27G>A (n.323-27G>A)
| gnomAD v4 |
20 | g.3082830G>A | CA743329787 | AVP | c.323-28C>T (n.323-28C>T)
| dbSNP gnomAD v4 |
20 | g.3082830G>C | CA2815070578 | AVP | c.323-28C>G (n.323-28C>G)
| |
20 | g.3082830G= | CA2346405373 | AVP | c.323-28C= (n.323-28C=)
| |
20 | g.3082830G>T | CA2651674427 | AVP | c.323-28C>A (n.323-28C>A)
| gnomAD v4 |
20 | g.3082831C>A | CA2651674428 | AVP | c.323-29G>T (n.323-29G>T)
| dbSNP gnomAD v4 |
20 | g.3082831C= | CA2346405374 | AVP | c.323-29G= (n.323-29G=)
| |
20 | g.3082831C>T | CA743329788 | AVP | c.323-29G>A (n.323-29G>A)
| dbSNP gnomAD v4 |
20 | g.3082833del | CA2577323000 | AVP | c.323-29del (n.323-29del)
| gnomAD v4 |
20 | g.3082832C>A | CA2651674429 | AVP | c.323-30G>T (n.323-30G>T)
| gnomAD v4 |
20 | g.3082832C= | CA2346405375 | AVP | c.323-30G= (n.323-30G=)
| |
20 | g.3082832C>T | CA310943037 | AVP | c.323-30G>A (n.323-30G>A)
| dbSNP gnomAD v4 |
20 | g.3082832_3082833insA | CA2522279925 | AVP | c.323-31_323-30insT (n.323-31_323-30insT)
| |
20 | g.3082833C>A | CA2651674430 | AVP | c.323-31G>T (n.323-31G>T)
| gnomAD v4 |
20 | g.3082833C= | CA2346405376 | AVP | c.323-31G= (n.323-31G=)
| |
20 | g.3082833C>T | CA2346405377 | AVP | c.323-31G>A (n.323-31G>A)
| dbSNP gnomAD v4 |
20 | g.3082834T>A | CA2651674431 | AVP | c.323-32A>T (n.323-32A>T)
| gnomAD v4 |
20 | g.3082834T>C | CA2651674432 | AVP | c.323-32A>G (n.323-32A>G)
| gnomAD v4 |
20 | g.3082834T>G | CA2651674433 | AVP | c.323-32A>C (n.323-32A>C)
| gnomAD v4 |
20 | g.3082835G>A | CA2651674436 | AVP | c.323-33C>T (n.323-33C>T)
| gnomAD v4 |
20 | g.3082835G>C | CA2815070579 | AVP | c.323-33C>G (n.323-33C>G)
| |
20 | g.3082835G= | CA2346405378 | AVP | c.323-33C= (n.323-33C=)
| |
20 | g.3082835G>T | CA2346405379 | AVP | c.323-33C>A (n.323-33C>A)
| dbSNP gnomAD v4 |
20 | g.3082838del | CA2651674434 | AVP | c.323-33del (n.323-33del)
| gnomAD v4 |
20 | g.3082837_3082838del | CA2651674435 | AVP | c.323-34_323-33del (n.323-34_323-33del)
| gnomAD v4 |
20 | g.3082836G>A | CA743329796 | AVP | c.323-34C>T (n.323-34C>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082836G>C | CA2346405381 | AVP | c.323-34C>G (n.323-34C>G)
| dbSNP |
20 | g.3082836G= | CA2346405380 | AVP | c.323-34C= (n.323-34C=)
| |
20 | g.3082836G>T | CA2651674437 | AVP | c.323-34C>A (n.323-34C>A)
| gnomAD v4 |
20 | g.3082837G>A | CA2651674438 | AVP | c.323-35C>T (n.323-35C>T)
| gnomAD v4 |
20 | g.3082837G>T | CA2651674439 | AVP | c.323-35C>A (n.323-35C>A)
| gnomAD v4 |
20 | g.3082838G>A | CA310943038 | AVP | c.323-36C>T (n.323-36C>T)
| dbSNP gnomAD v4 |
20 | g.3082838G= | CA2346405382 | AVP | c.323-36C= (n.323-36C=)
| |
20 | g.3082838G>T | CA2651674440 | AVP | c.323-36C>A (n.323-36C>A)
| gnomAD v4 |
20 | g.3082839C>A | CA2651674441 | AVP | c.323-37G>T (n.323-37G>T)
| gnomAD v4 |
20 | g.3082839C>G | CA2815070580 | AVP | c.323-37G>C (n.323-37G>C)
| |
20 | g.3082839C>T | CA2651674442 | AVP | c.323-37G>A (n.323-37G>A)
| dbSNP gnomAD v4 |
20 | g.3082840G>A | CA2651674443 | AVP | c.323-38C>T (n.323-38C>T)
| gnomAD v4 |
20 | g.3082840G>C | CA2651674444 | AVP | c.323-38C>G (n.323-38C>G)
| gnomAD v4 |
20 | g.3082840G>T | CA2651674445 | AVP | c.323-38C>A (n.323-38C>A)
| gnomAD v4 |
20 | g.3082842del | CA2815070581 | AVP | c.323-38del (n.323-38del)
| |
20 | g.3082841G>A | CA2651674446 | AVP | c.323-39C>T (n.323-39C>T)
| gnomAD v4 |
20 | g.3082841G>C | CA2651674447 | AVP | c.323-39C>G (n.323-39C>G)
| gnomAD v4 |
20 | g.3082842G>A | CA2651674448 | AVP | c.323-40C>T (n.323-40C>T)
| gnomAD v4 |
20 | g.3082842G>T | CA2651674449 | AVP | c.323-40C>A (n.323-40C>A)
| gnomAD v4 |
20 | g.3082843C>A | CA1014830583 | AVP | c.323-41G>T (n.323-41G>T)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082843C= | CA2346405383 | AVP | c.323-41G= (n.323-41G=)
| |
20 | g.3082843C>T | CA310943043 | AVP | c.323-41G>A (n.323-41G>A)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082844G>A | CA2651674450 | AVP | c.323-42C>T (n.323-42C>T)
| gnomAD v4 |
20 | g.3082844G>T | CA2651674451 | AVP | c.323-42C>A (n.323-42C>A)
| gnomAD v4 |
20 | g.3082845C>A | CA2651674452 | AVP | c.323-43G>T (n.323-43G>T)
| gnomAD v4 |
20 | g.3082845C>T | CA2651674453 | AVP | c.323-43G>A (n.323-43G>A)
| gnomAD v4 |
20 | g.3082846A= | CA2346405385 | AVP | c.323-44T= (n.323-44T=)
| |
20 | g.3082846A>C | CA2346405384 | AVP | c.323-44T>G (n.323-44T>G)
| dbSNP |
20 | g.3082846A>G | CA2651674455 | AVP | c.323-44T>C (n.323-44T>C)
| gnomAD v4 |
20 | g.3082846_3082847del | CA2651674454 | AVP | c.323-45_323-44del (n.323-45_323-44del)
| gnomAD v4 |
20 | g.3082847G>A | CA2651674456 | AVP | c.323-45C>T (n.323-45C>T)
| gnomAD v4 |
20 | g.3082847G>C | CA2815070582 | AVP | c.323-45C>G (n.323-45C>G)
| |
20 | g.3082847G>T | CA2651674457 | AVP | c.323-45C>A (n.323-45C>A)
| gnomAD v4 |
20 | g.3082848C>A | CA2651674458 | AVP | c.323-46G>T (n.323-46G>T)
| gnomAD v4 |
20 | g.3082848C>G | CA2651674459 | AVP | c.323-46G>C (n.323-46G>C)
| gnomAD v4 |
20 | g.3082848C>T | CA2651674460 | AVP | c.323-46G>A (n.323-46G>A)
| gnomAD v4 |
20 | g.3082849del | CA2651674461 | AVP | c.323-47del (n.323-47del)
| gnomAD v4 |
20 | g.3082849T>C | CA2651674462 | AVP | c.323-47A>G (n.323-47A>G)
| gnomAD v4 |
20 | g.3082850C>A | CA2651674463 | AVP | c.323-48G>T (n.323-48G>T)
| gnomAD v4 |
20 | g.3082850C= | CA2346405386 | AVP | c.323-48G= (n.323-48G=)
| |
20 | g.3082850C>G | CA2346405387 | AVP | c.323-48G>C (n.323-48G>C)
| dbSNP gnomAD v4 |
20 | g.3082850C>T | CA2346405388 | AVP | c.323-48G>A (n.323-48G>A)
| dbSNP gnomAD v4 |
20 | g.3082851G>A | CA2346405390 | AVP | c.323-49C>T (n.323-49C>T)
| dbSNP gnomAD v4 |
20 | g.3082851G>C | CA2815070583 | AVP | c.323-49C>G (n.323-49C>G)
| |
20 | g.3082851G= | CA2346405389 | AVP | c.323-49C= (n.323-49C=)
| |
20 | g.3082851G>T | CA2577323001 | AVP | c.323-49C>A (n.323-49C>A)
| gnomAD v4 |
20 | g.3082854del | CA2651674464 | AVP | c.323-49del (n.323-49del)
| gnomAD v4 |
20 | g.3082852G>A | CA2651674465 | AVP | c.323-50C>T (n.323-50C>T)
| gnomAD v4 |
20 | g.3082852G>C | CA743329799 | AVP | c.323-50C>G (n.323-50C>G)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.3082852G= | CA2346405391 | AVP | c.323-50C= (n.323-50C=)
| |
20 | g.3082852G>T | CA2651674466 | AVP | c.323-50C>A (n.323-50C>A)
| gnomAD v4 |