Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10622749_10622828dup | CA2779033567 | RP1L1 | c.375_454dup (p.Arg152LeufsTer32) n.625_704dup | |
8 | g.10622794_10622881del | CA2779033574 | RP1L1 | c.329_416del (p.Pro110GlnfsTer18) n.579_666del | |
8 | g.10622828G>A | CA370300366 | RP1L1 | c.374C>T (p.Thr125Ile) n.624C>T | |
8 | g.10622828G>C | CA370300368 | RP1L1 | c.374C>G (p.Thr125Ser) n.624C>G | dbSNP gnomAD v4 |
8 | g.10622828G>T | CA370300369 | RP1L1 | c.374C>A (p.Thr125Asn) n.624C>A | |
8 | g.10622829T>A | CA370300371 | RP1L1 | c.373A>T (p.Thr125Ser) n.623A>T | |
8 | g.10622829T>C | CA370300373 | RP1L1 | c.373A>G (p.Thr125Ala) n.623A>G | |
8 | g.10622829T>G | CA171954751 | RP1L1 | c.373A>C (p.Thr125Pro) n.623A>C | dbSNP |
8 | g.10622829T= | CA1763389944 | RP1L1 | c.373A= (p.Thr125=) n.623A= | |
8 | g.10622830G>A | CA459620360 | RP1L1 | c.372C>T (p.Pro124=) n.622C>T | gnomAD v4 |
8 | g.10622830G>C | CA459620359 | RP1L1 | c.372C>G (p.Pro124=) n.622C>G | gnomAD v4 |
8 | g.10622830G>T | CA459620361 | RP1L1 | c.372C>A (p.Pro124=) n.622C>A | gnomAD v4 |
8 | g.10622833dup | CA2779033579 | RP1L1 | c.372dup (p.Thr125HisfsTer13) n.622dup | |
8 | g.10622831G>A | CA4625736 | RP1L1 | c.371C>T (p.Pro124Leu) n.621C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622831G>C | CA370300375 | RP1L1 | c.371C>G (p.Pro124Arg) n.621C>G | dbSNP |
8 | g.10622831G= | CA1763389950 | RP1L1 | c.371C= (p.Pro124=) n.621C= | |
8 | g.10622831G>T | CA370300377 | RP1L1 | c.371C>A (p.Pro124His) n.621C>A | |
8 | g.10622832G>A | CA370300379 | RP1L1 | c.370C>T (p.Pro124Ser) n.620C>T | gnomAD v4 |
8 | g.10622832G>C | CA171954755 | RP1L1 | c.370C>G (p.Pro124Ala) n.620C>G | ClinVar dbSNP gnomAD v4 |
8 | g.10622832G= | CA1763389953 | RP1L1 | c.370C= (p.Pro124=) n.620C= | |
8 | g.10622832G>T | CA370300380 | RP1L1 | c.370C>A (p.Pro124Thr) n.620C>A | |
8 | g.10622832_10622837dup | CA2686114620 | RP1L1 | c.365_370dup (p.Asn123_Pro124insArgAsn) n.615_620dup | gnomAD v4 |
8 | g.10622833G>A | CA459620367 | RP1L1 | c.369C>T (p.Asn123=) n.619C>T | gnomAD v4 |
8 | g.10622833G>C | CA370300384 | RP1L1 | c.369C>G (p.Asn123Lys) n.619C>G | |
8 | g.10622833G>T | CA370300382 | RP1L1 | c.369C>A (p.Asn123Lys) n.619C>A | COSMIC |
8 | g.10622834T>A | CA370300385 | RP1L1 | c.368A>T (p.Asn123Ile) n.618A>T | |
8 | g.10622834T>C | CA370300387 | RP1L1 | c.368A>G (p.Asn123Ser) n.618A>G | |
8 | g.10622834T>G | CA370300388 | RP1L1 | c.368A>C (p.Asn123Thr) n.618A>C | |
8 | g.10622835T>A | CA370300389 | RP1L1 | c.367A>T (p.Asn123Tyr) n.617A>T | dbSNP |
8 | g.10622835T>C | CA370300390 | RP1L1 | c.367A>G (p.Asn123Asp) n.617A>G | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622835T>G | CA370300392 | RP1L1 | c.367A>C (p.Asn123His) n.617A>C | |
8 | g.10622835T= | CA1763389958 | RP1L1 | c.367A= (p.Asn123=) n.617A= | |
8 | g.10622835_10622837delinsTTC | CA1763389957 | RP1L1 | c.365_367delinsGAA (p.Arg122=) n.615_617delinsGAA | |
8 | g.10622836T>A | CA370300394 | RP1L1 | c.366A>T (p.Arg122Ser) n.616A>T | |
8 | g.10622836T>C | CA459620369 | RP1L1 | c.366A>G (p.Arg122=) n.616A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622836T>G | CA370300395 | RP1L1 | c.366A>C (p.Arg122Ser) n.616A>C | |
8 | g.10622836T= | CA1763389961 | RP1L1 | c.366A= (p.Arg122=) n.616A= | |
8 | g.10622840_10622841del | CA4625737 | RP1L1 | c.365_366del (p.Arg122LysfsTer15) n.615_616del | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622837C>A | CA370300397 | RP1L1 | c.365G>T (p.Arg122Ile) n.615G>T | |
8 | g.10622837C>G | CA370300399 | RP1L1 | c.365G>C (p.Arg122Thr) n.615G>C | ClinVar gnomAD v4 |
8 | g.10622837C>T | CA370300401 | RP1L1 | c.365G>A (p.Arg122Lys) n.615G>A | |
8 | g.10622838T>A | CA370300402 | RP1L1 | c.364A>T (p.Arg122Ter) n.614A>T | |
8 | g.10622838T>C | CA171954757 | RP1L1 | c.364A>G (p.Arg122Gly) n.614A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622838T>G | CA459620373 | RP1L1 | c.364A>C (p.Arg122=) n.614A>C | |
8 | g.10622838T= | CA1763389964 | RP1L1 | c.364A= (p.Arg122=) n.614A= | |
8 | g.10622839C>A | CA4625738 | RP1L1 | c.363G>T (p.Glu121Asp) n.613G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.10622839C= | CA1763389968 | RP1L1 | c.363G= (p.Glu121=) n.613G= | |
8 | g.10622839C>G | CA370300403 | RP1L1 | c.363G>C (p.Glu121Asp) n.613G>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622839C>T | CA459620375 | RP1L1 | c.363G>A (p.Glu121=) n.613G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622840T>A | CA370300404 | RP1L1 | c.362A>T (p.Glu121Val) n.612A>T | |
8 | g.10622840T>C | CA370300405 | RP1L1 | c.362A>G (p.Glu121Gly) n.612A>G | COSMIC |
8 | g.10622840T>G | CA370300407 | RP1L1 | c.362A>C (p.Glu121Ala) n.612A>C | |
8 | g.10622841C>A | CA370300409 | RP1L1 | c.361G>T (p.Glu121Ter) n.611G>T | |
8 | g.10622841C= | CA1763389972 | RP1L1 | c.361G= (p.Glu121=) n.611G= | |
8 | g.10622841C>G | CA4625739 | RP1L1 | c.361G>C (p.Glu121Gln) n.611G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622841C>T | CA171954762 | RP1L1 | c.361G>A (p.Glu121Lys) n.611G>A | ClinVar dbSNP COSMIC |
8 | g.10622842C>A | CA370300412 | RP1L1 | c.360G>T (p.Gln120His) n.610G>T | ClinVar |
8 | g.10622842C>G | CA370300410 | RP1L1 | c.360G>C (p.Gln120His) n.610G>C | |
8 | g.10622842C>T | CA459620380 | RP1L1 | c.360G>A (p.Gln120=) n.610G>A | COSMIC |
8 | g.10622843T>A | CA370300413 | RP1L1 | c.359A>T (p.Gln120Leu) n.609A>T | |
8 | g.10622843T>C | CA370300414 | RP1L1 | c.359A>G (p.Gln120Arg) n.609A>G | |
8 | g.10622843T>G | CA370300415 | RP1L1 | c.359A>C (p.Gln120Pro) n.609A>C | |
8 | g.10622844G>A | CA171954764 | RP1L1 | c.358C>T (p.Gln120Ter) n.608C>T | dbSNP gnomAD v4 |
8 | g.10622844G>C | CA370300417 | RP1L1 | c.358C>G (p.Gln120Glu) n.608C>G | |
8 | g.10622844G= | CA1763389976 | RP1L1 | c.358C= (p.Gln120=) n.608C= | |
8 | g.10622844G>T | CA370300419 | RP1L1 | c.358C>A (p.Gln120Lys) n.608C>A | ClinVar dbSNP |
8 | g.10622845T>A | CA459620382 | RP1L1 | c.357A>T (p.Pro119=) n.607A>T | |
8 | g.10622845T>C | CA459620383 | RP1L1 | c.357A>G (p.Pro119=) n.607A>G | gnomAD v4 |
8 | g.10622845T>G | CA459620384 | RP1L1 | c.357A>C (p.Pro119=) n.607A>C | gnomAD v4 |
8 | g.10622846G>A | CA4625740 | RP1L1 | c.356C>T (p.Pro119Leu) n.606C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622846G>C | CA370300422 | RP1L1 | c.356C>G (p.Pro119Arg) n.606C>G | |
8 | g.10622846G= | CA1763389979 | RP1L1 | c.356C= (p.Pro119=) n.606C= | |
8 | g.10622846G>T | CA370300421 | RP1L1 | c.356C>A (p.Pro119Gln) n.606C>A | dbSNP |
8 | g.10622850_10622853del | CA2579091972 | RP1L1 | c.353_356del (p.Arg118HisfsTer?) n.603_606del | ClinVar gnomAD v4 |
8 | g.10622847G>A | CA4625741 | RP1L1 | c.355C>T (p.Pro119Ser) n.605C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622847G>C | CA370300423 | RP1L1 | c.355C>G (p.Pro119Ala) n.605C>G | |
8 | g.10622847G= | CA1763389983 | RP1L1 | c.355C= (p.Pro119=) n.605C= | |
8 | g.10622847G>T | CA370300424 | RP1L1 | c.355C>A (p.Pro119Thr) n.605C>A | dbSNP |
8 | g.10622848C>A | CA459620385 | RP1L1 | c.354G>T (p.Arg118=) n.604G>T | |
8 | g.10622848C= | CA1763389988 | RP1L1 | c.354G= (p.Arg118=) n.604G= | |
8 | g.10622848C>G | CA459620386 | RP1L1 | c.354G>C (p.Arg118=) n.604G>C | |
8 | g.10622848C>T | CA4625742 | RP1L1 | c.354G>A (p.Arg118=) n.604G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622849C>A | CA370300426 | RP1L1 | c.353G>T (p.Arg118Leu) n.603G>T | |
8 | g.10622849C= | CA1763389993 | RP1L1 | c.353G= (p.Arg118=) n.603G= | |
8 | g.10622849C>G | CA370300428 | RP1L1 | c.353G>C (p.Arg118Pro) n.603G>C | |
8 | g.10622849C>T | CA4625743 | RP1L1 | c.353G>A (p.Arg118Gln) n.603G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622850G>A | CA4625744 | RP1L1 | c.352C>T (p.Arg118Trp) n.602C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622850G>C | CA370300430 | RP1L1 | c.352C>G (p.Arg118Gly) n.602C>G | |
8 | g.10622850G= | CA1763389999 | RP1L1 | c.352C= (p.Arg118=) n.602C= | |
8 | g.10622850G>T | CA459620389 | RP1L1 | c.352C>A (p.Arg118=) n.602C>A | |
8 | g.10622851G>A | CA4625745 | RP1L1 | c.351C>T (p.Gly117=) n.601C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622851G>C | CA171954773 | RP1L1 | c.351C>G (p.Gly117=) n.601C>G | dbSNP |
8 | g.10622851G= | CA1763390004 | RP1L1 | c.351C= (p.Gly117=) n.601C= | |
8 | g.10622851G>T | CA459620390 | RP1L1 | c.351C>A (p.Gly117=) n.601C>A | |
8 | g.10622852C>A | CA370300432 | RP1L1 | c.350G>T (p.Gly117Val) n.600G>T | gnomAD v4 |
8 | g.10622852C= | CA1763390009 | RP1L1 | c.350G= (p.Gly117=) n.600G= | |
8 | g.10622852C>G | CA370300434 | RP1L1 | c.350G>C (p.Gly117Ala) n.600G>C | |
8 | g.10622852C>T | CA4625746 | RP1L1 | c.350G>A (p.Gly117Asp) n.600G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622853dup | CA2686114626 | RP1L1 | c.350dup (p.Arg118ProfsTer20) n.600dup | gnomAD v4 |
8 | g.10622853C>A | CA370300439 | RP1L1 | c.349G>T (p.Gly117Cys) n.599G>T | |
8 | g.10622853C>G | CA370300436 | RP1L1 | c.349G>C (p.Gly117Arg) n.599G>C | |
8 | g.10622853C>T | CA370300438 | RP1L1 | c.349G>A (p.Gly117Ser) n.599G>A | gnomAD v4 |
8 | g.10622854T>A | CA459620393 | RP1L1 | c.348A>T (p.Pro116=) n.598A>T | ClinVar gnomAD v4 |
8 | g.10622854T>C | CA459620394 | RP1L1 | c.348A>G (p.Pro116=) n.598A>G | gnomAD v4 |
8 | g.10622854T>G | CA459620395 | RP1L1 | c.348A>C (p.Pro116=) n.598A>C | |
8 | g.10622855G>A | CA370300441 | RP1L1 | c.347C>T (p.Pro116Leu) n.597C>T | gnomAD v4 |
8 | g.10622855G>C | CA370300442 | RP1L1 | c.347C>G (p.Pro116Arg) n.597C>G | ClinVar gnomAD v4 |
8 | g.10622855G>T | CA370300443 | RP1L1 | c.347C>A (p.Pro116Gln) n.597C>A | |
8 | g.10622856G>A | CA370300445 | RP1L1 | c.346C>T (p.Pro116Ser) n.596C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622856G>C | CA171954777 | RP1L1 | c.346C>G (p.Pro116Ala) n.596C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622856G= | CA1763390015 | RP1L1 | c.346C= (p.Pro116=) n.596C= | |
8 | g.10622856G>T | CA370300447 | RP1L1 | c.346C>A (p.Pro116Thr) n.596C>A | |
8 | g.10622857T>A | CA459620397 | RP1L1 | c.345A>T (p.Gly115=) n.595A>T | |
8 | g.10622857T>C | CA171954779 | RP1L1 | c.345A>G (p.Gly115=) n.595A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622857T>G | CA459620398 | RP1L1 | c.345A>C (p.Gly115=) n.595A>C | |
8 | g.10622857T= | CA1763390020 | RP1L1 | c.345A= (p.Gly115=) n.595A= | |
8 | g.10622858C>A | CA370300448 | RP1L1 | c.344G>T (p.Gly115Val) n.594G>T | gnomAD v4 |
8 | g.10622858C= | CA1763390022 | RP1L1 | c.344G= (p.Gly115=) n.594G= | |
8 | g.10622858C>G | CA370300449 | RP1L1 | c.344G>C (p.Gly115Ala) n.594G>C | |
8 | g.10622858C>T | CA370300450 | RP1L1 | c.344G>A (p.Gly115Glu) n.594G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622859C>A | CA370300452 | RP1L1 | c.343G>T (p.Gly115Ter) n.593G>T | |
8 | g.10622859C>G | CA370300453 | RP1L1 | c.343G>C (p.Gly115Arg) n.593G>C | |
8 | g.10622859C>T | CA370300455 | RP1L1 | c.343G>A (p.Gly115Arg) n.593G>A | |
8 | g.10622860A= | CA1763390028 | RP1L1 | c.342T= (p.Ser114=) n.592T= | |
8 | g.10622860A>C | CA171954781 | RP1L1 | c.342T>G (p.Ser114Arg) n.592T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622860A>G | CA4625748 | RP1L1 | c.342T>C (p.Ser114=) n.592T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622860A>T | CA370300457 | RP1L1 | c.342T>A (p.Ser114Arg) n.592T>A | dbSNP |
8 | g.10622861C>A | CA370300461 | RP1L1 | c.341G>T (p.Ser114Ile) n.591G>T | |
8 | g.10622861C= | CA1763390031 | RP1L1 | c.341G= (p.Ser114=) n.591G= | |
8 | g.10622861C>G | CA370300462 | RP1L1 | c.341G>C (p.Ser114Thr) n.591G>C | |
8 | g.10622861C>T | CA370300460 | RP1L1 | c.341G>A (p.Ser114Asn) n.591G>A | dbSNP gnomAD v4 |
8 | g.10622863_10622882dup | CA4625747 | RP1L1 | c.322_341dup (p.Ser114ArgfsTer?) n.572_591dup | dbSNP ExAC gnomAD v2 |
8 | g.10622862T>A | CA370300464 | RP1L1 | c.340A>T (p.Ser114Cys) n.590A>T | |
8 | g.10622862T>C | CA370300466 | RP1L1 | c.340A>G (p.Ser114Gly) n.590A>G | gnomAD v4 |
8 | g.10622862T>G | CA370300467 | RP1L1 | c.340A>C (p.Ser114Arg) n.590A>C | |
8 | g.10622862T= | CA1763390033 | RP1L1 | c.340A= (p.Ser114=) n.590A= | |
8 | g.10622863G>A | CA459620403 | RP1L1 | c.339C>T (p.Pro113=) n.589C>T | dbSNP gnomAD v4 |
8 | g.10622863G>C | CA459620404 | RP1L1 | c.339C>G (p.Pro113=) n.589C>G | gnomAD v4 |
8 | g.10622863G= | CA1763390035 | RP1L1 | c.339C= (p.Pro113=) n.589C= | |
8 | g.10622863G>T | CA459620405 | RP1L1 | c.339C>A (p.Pro113=) n.589C>A | |
8 | g.10622867dup | CA580030623 | RP1L1 | c.339dup (p.Ser114GlnfsTer24) n.589dup | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622867del | CA2579091973 | RP1L1 | c.339del (p.Ser114ValfsTer?) n.589del | gnomAD v4 |
8 | g.10622865_10622867del | CA2686114630 | RP1L1 | c.337_339del (p.Pro113del) n.587_589del | gnomAD v4 |
8 | g.10622864G>A | CA370300469 | RP1L1 | c.338C>T (p.Pro113Leu) n.588C>T | gnomAD v4 |
8 | g.10622864G>C | CA370300470 | RP1L1 | c.338C>G (p.Pro113Arg) n.588C>G | gnomAD v4 |
8 | g.10622864G>T | CA370300472 | RP1L1 | c.338C>A (p.Pro113His) n.588C>A | gnomAD v4 |
8 | g.10622865G>A | CA4625749 | RP1L1 | c.337C>T (p.Pro113Ser) n.587C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622865G>C | CA370300473 | RP1L1 | c.337C>G (p.Pro113Ala) n.587C>G | |
8 | g.10622865G= | CA1763390039 | RP1L1 | c.337C= (p.Pro113=) n.587C= | |
8 | g.10622865G>T | CA370300475 | RP1L1 | c.337C>A (p.Pro113Thr) n.587C>A | |
8 | g.10622866G>A | CA171954793 | RP1L1 | c.336C>T (p.Thr112=) n.586C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622866G>C | CA459620410 | RP1L1 | c.336C>G (p.Thr112=) n.586C>G | |
8 | g.10622866G= | CA1763390046 | RP1L1 | c.336C= (p.Thr112=) n.586C= | |
8 | g.10622866G>T | CA4625750 | RP1L1 | c.336C>A (p.Thr112=) n.586C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622866_10622867insA | CA2686114633 | RP1L1 | c.335_336insT (p.Ser114GlnfsTer24) n.585_586insT | gnomAD v4 |
8 | g.10622867G>A | CA4625752 | RP1L1 | c.335C>T (p.Thr112Ile) n.585C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622867G>C | CA4625751 | RP1L1 | c.335C>G (p.Thr112Ser) n.585C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622867G= | CA1763390054 | RP1L1 | c.335C= (p.Thr112=) n.585C= | |
8 | g.10622867G>T | CA370300477 | RP1L1 | c.335C>A (p.Thr112Asn) n.585C>A | dbSNP |
8 | g.10622868T>A | CA370300478 | RP1L1 | c.334A>T (p.Thr112Ser) n.584A>T | |
8 | g.10622868T>C | CA370300482 | RP1L1 | c.334A>G (p.Thr112Ala) n.584A>G | |
8 | g.10622868T>G | CA370300480 | RP1L1 | c.334A>C (p.Thr112Pro) n.584A>C | dbSNP |
8 | g.10622868T= | CA1763390057 | RP1L1 | c.334A= (p.Thr112=) n.584A= | |
8 | g.10622869C>A | CA370300483 | RP1L1 | c.333G>T (p.Lys111Asn) n.583G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622869C= | CA1763390062 | RP1L1 | c.333G= (p.Lys111=) n.583G= | |
8 | g.10622869C>G | CA370300484 | RP1L1 | c.333G>C (p.Lys111Asn) n.583G>C | |
8 | g.10622869C>T | CA459620418 | RP1L1 | c.333G>A (p.Lys111=) n.583G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622869_10622870delinsCT | CA1763390060 | RP1L1 | c.332_333delinsAG (p.Lys111=) n.582_583delinsAG | |
8 | g.10622870T>A | CA370300486 | RP1L1 | c.332A>T (p.Lys111Met) n.582A>T | |
8 | g.10622870T>C | CA370300488 | RP1L1 | c.332A>G (p.Lys111Arg) n.582A>G | dbSNP gnomAD v4 |
8 | g.10622870T>G | CA370300489 | RP1L1 | c.332A>C (p.Lys111Thr) n.582A>C | gnomAD v4 |
8 | g.10622870T= | CA1763390069 | RP1L1 | c.332A= (p.Lys111=) n.582A= | |
8 | g.10622871del | CA916082972 | RP1L1 | c.332del (p.Lys111ArgfsTer?) n.582del | ClinVar dbSNP |
8 | g.10622870_10622871insG | CA171954798 | RP1L1 | c.331_332insC (p.Lys111ThrfsTer27) n.581_582insC | |
8 | g.10622871T>A | CA370300491 | RP1L1 | c.331A>T (p.Lys111Ter) n.581A>T | |
8 | g.10622871T>C | CA370300493 | RP1L1 | c.331A>G (p.Lys111Glu) n.581A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622871T>G | CA370300495 | RP1L1 | c.331A>C (p.Lys111Gln) n.581A>C | |
8 | g.10622871T= | CA1763390079 | RP1L1 | c.331A= (p.Lys111=) n.581A= | |
8 | g.10622871_10622872delinsTG | CA1763390076 | RP1L1 | c.330_331delinsCA (p.Pro110=) n.580_581delinsCA | |
8 | g.10622872G>A | CA171954802 | RP1L1 | c.330C>T (p.Pro110=) n.580C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622872G>C | CA4625754 | RP1L1 | c.330C>G (p.Pro110=) n.580C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622872G= | CA1763390086 | RP1L1 | c.330C= (p.Pro110=) n.580C= | |
8 | g.10622872G>T | CA459620421 | RP1L1 | c.330C>A (p.Pro110=) n.580C>A | gnomAD v4 |
8 | g.10622877dup | CA4625753 | RP1L1 | c.330dup (p.Lys111GlnfsTer27) n.580dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622877del | CA580030624 | RP1L1 | c.330del (p.Lys111ArgfsTer?) n.580del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G>A | CA4625755 | RP1L1 | c.329C>T (p.Pro110Leu) n.579C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G>C | CA4625756 | RP1L1 | c.329C>G (p.Pro110Arg) n.579C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622873G= | CA1763390091 | RP1L1 | c.329C= (p.Pro110=) n.579C= | |
8 | g.10622873G>T | CA171954806 | RP1L1 | c.329C>A (p.Pro110His) n.579C>A | dbSNP COSMIC |
8 | g.10622874G>A | CA4625757 | RP1L1 | c.328C>T (p.Pro110Ser) n.578C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622874G>C | CA370300498 | RP1L1 | c.328C>G (p.Pro110Ala) n.578C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622874G= | CA1763390097 | RP1L1 | c.328C= (p.Pro110=) n.578C= | |
8 | g.10622874G>T | CA370300499 | RP1L1 | c.328C>A (p.Pro110Thr) n.578C>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622875G>A | CA4625759 | RP1L1 | c.327C>T (p.Pro109=) n.577C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622875G>C | CA459620425 | RP1L1 | c.327C>G (p.Pro109=) n.577C>G | |
8 | g.10622875G= | CA1763390104 | RP1L1 | c.327C= (p.Pro109=) n.577C= | |
8 | g.10622875G>T | CA459620426 | RP1L1 | c.327C>A (p.Pro109=) n.577C>A | |
8 | g.10622875_10622876insA | CA4625758 | RP1L1 | c.326_327insT (p.Lys111GlnfsTer27) n.576_577insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622876G>A | CA4625760 | RP1L1 | c.326C>T (p.Pro109Leu) n.576C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622876G>C | CA370300500 | RP1L1 | c.326C>G (p.Pro109Arg) n.576C>G | |
8 | g.10622876G= | CA1763390108 | RP1L1 | c.326C= (p.Pro109=) n.576C= | |
8 | g.10622876G>T | CA4625761 | RP1L1 | c.326C>A (p.Pro109His) n.576C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622876_10622877insA | CA2739290046 | RP1L1 | c.325_326insT (p.Pro109LeufsTer29) n.575_576insT | |
8 | g.10622877G>A | CA4625764 | RP1L1 | c.325C>T (p.Pro109Ser) n.575C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622877G>C | CA370300503 | RP1L1 | c.325C>G (p.Pro109Ala) n.575C>G | dbSNP gnomAD v4 |
8 | g.10622877G= | CA1763390115 | RP1L1 | c.325C= (p.Pro109=) n.575C= | |
8 | g.10622877G>T | CA4625763 | RP1L1 | c.325C>A (p.Pro109Thr) n.575C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622877_10622878insA | CA4625762 | RP1L1 | c.324_325insT (p.Pro109SerfsTer29) n.574_575insT | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622878C>A | CA370300505 | RP1L1 | c.324G>T (p.Lys108Asn) n.574G>T | |
8 | g.10622878C= | CA1763390126 | RP1L1 | c.324G= (p.Lys108=) n.574G= | |
8 | g.10622878C>G | CA370300507 | RP1L1 | c.324G>C (p.Lys108Asn) n.574G>C | |
8 | g.10622878C>T | CA459620431 | RP1L1 | c.324G>A (p.Lys108=) n.574G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622879T>A | CA370300509 | RP1L1 | c.323A>T (p.Lys108Met) n.573A>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622879T>C | CA370300512 | RP1L1 | c.323A>G (p.Lys108Arg) n.573A>G | |
8 | g.10622879T>G | CA370300510 | RP1L1 | c.323A>C (p.Lys108Thr) n.573A>C | dbSNP |
8 | g.10622879T= | CA1763390130 | RP1L1 | c.323A= (p.Lys108=) n.573A= | |
8 | g.10622880T>A | CA370300513 | RP1L1 | c.322A>T (p.Lys108Ter) n.572A>T | |
8 | g.10622880T>C | CA370300514 | RP1L1 | c.322A>G (p.Lys108Glu) n.572A>G | |
8 | g.10622880T>G | CA370300515 | RP1L1 | c.322A>C (p.Lys108Gln) n.572A>C | |
8 | g.10622881C>A | CA370300517 | RP1L1 | c.321G>T (p.Lys107Asn) n.571G>T | COSMIC |
8 | g.10622881C>G | CA370300518 | RP1L1 | c.321G>C (p.Lys107Asn) n.571G>C | ClinVar gnomAD v4 |
8 | g.10622881C>T | CA459620433 | RP1L1 | c.321G>A (p.Lys107=) n.571G>A | gnomAD v4 |
8 | g.10622882T>A | CA370300519 | RP1L1 | c.320A>T (p.Lys107Met) n.570A>T | |
8 | g.10622882T>C | CA370300520 | RP1L1 | c.320A>G (p.Lys107Arg) n.570A>G | |
8 | g.10622882T>G | CA370300521 | RP1L1 | c.320A>C (p.Lys107Thr) n.570A>C | |
8 | g.10622883T>A | CA370300523 | RP1L1 | c.319A>T (p.Lys107Ter) n.569A>T | |
8 | g.10622883T>C | CA370300524 | RP1L1 | c.319A>G (p.Lys107Glu) n.569A>G | |
8 | g.10622883T>G | CA370300525 | RP1L1 | c.319A>C (p.Lys107Gln) n.569A>C | |
8 | g.10622883_10622888delinsTATCAG | CA1763390133 | RP1L1 | c.314_319delinsCTGATA (p.Ser105=) n.564_569delinsCTGATA | |
8 | g.10622884A= | CA1763390137 | RP1L1 | c.318T= (p.Asp106=) n.568T= | |
8 | g.10622884A>C | CA370300526 | RP1L1 | c.318T>G (p.Asp106Glu) n.568T>G | |
8 | g.10622884A>G | CA459620435 | RP1L1 | c.318T>C (p.Asp106=) n.568T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622884A>T | CA370300527 | RP1L1 | c.318T>A (p.Asp106Glu) n.568T>A | COSMIC |
8 | g.10622885_10622889del | CA580030625 | RP1L1 | c.314_318del (p.Ser105Ter) n.564_568del | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622885T>A | CA370300528 | RP1L1 | c.317A>T (p.Asp106Val) n.567A>T | |
8 | g.10622885T>C | CA370300530 | RP1L1 | c.317A>G (p.Asp106Gly) n.567A>G | dbSNP gnomAD v2 |
8 | g.10622885T>G | CA370300529 | RP1L1 | c.317A>C (p.Asp106Ala) n.567A>C | dbSNP |
8 | g.10622885T= | CA1763390141 | RP1L1 | c.317A= (p.Asp106=) n.567A= | |
8 | g.10622886C>A | CA370300532 | RP1L1 | c.316G>T (p.Asp106Tyr) n.566G>T | |
8 | g.10622886C>G | CA370300533 | RP1L1 | c.316G>C (p.Asp106His) n.566G>C | |
8 | g.10622886C>T | CA370300534 | RP1L1 | c.316G>A (p.Asp106Asn) n.566G>A | dbSNP |
8 | g.10622887A>C | CA459620443 | RP1L1 | c.315T>G (p.Ser105=) n.565T>G | |
8 | g.10622887A>G | CA459620446 | RP1L1 | c.315T>C (p.Ser105=) n.565T>C | |
8 | g.10622887A>T | CA459620447 | RP1L1 | c.315T>A (p.Ser105=) n.565T>A | |
8 | g.10622888G>A | CA370300535 | RP1L1 | c.314C>T (p.Ser105Phe) n.564C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622888G>C | CA370300536 | RP1L1 | c.314C>G (p.Ser105Cys) n.564C>G | gnomAD v4 |
8 | g.10622888G= | CA1763390143 | RP1L1 | c.314C= (p.Ser105=) n.564C= | |
8 | g.10622888G>T | CA370300537 | RP1L1 | c.314C>A (p.Ser105Tyr) n.564C>A | |
8 | g.10622889A= | CA1763390145 | RP1L1 | c.313T= (p.Ser105=) n.563T= | |
8 | g.10622889A>C | CA370300538 | RP1L1 | c.313T>G (p.Ser105Ala) n.563T>G | |
8 | g.10622889A>G | CA4625765 | RP1L1 | c.313T>C (p.Ser105Pro) n.563T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622889A>T | CA370300539 | RP1L1 | c.313T>A (p.Ser105Thr) n.563T>A | |
8 | g.10622894_10622902del | CA2686114638 | RP1L1 | c.305_313del (p.Tyr102_Cys104del) n.555_563del | gnomAD v4 |
8 | g.10622890G>A | CA459620449 | RP1L1 | c.312C>T (p.Cys104=) n.562C>T | gnomAD v4 COSMIC |
8 | g.10622890G>C | CA370300540 | RP1L1 | c.312C>G (p.Cys104Trp) n.562C>G | |
8 | g.10622890G>T | CA370300541 | RP1L1 | c.312C>A (p.Cys104Ter) n.562C>A | |
8 | g.10622891C>A | CA370300543 | RP1L1 | c.311G>T (p.Cys104Phe) n.561G>T | |
8 | g.10622891C= | CA1763390148 | RP1L1 | c.311G= (p.Cys104=) n.561G= | |
8 | g.10622891C>G | CA370300542 | RP1L1 | c.311G>C (p.Cys104Ser) n.561G>C | |
8 | g.10622891C>T | CA4625766 | RP1L1 | c.311G>A (p.Cys104Tyr) n.561G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622892A>C | CA370300544 | RP1L1 | c.310T>G (p.Cys104Gly) n.560T>G | |
8 | g.10622892A>G | CA370300545 | RP1L1 | c.310T>C (p.Cys104Arg) n.560T>C | |
8 | g.10622892A>T | CA370300546 | RP1L1 | c.310T>A (p.Cys104Ser) n.560T>A | |
8 | g.10622893G>A | CA459620456 | RP1L1 | c.309C>T (p.Leu103=) n.559C>T | gnomAD v4 |
8 | g.10622893G>C | CA4625767 | RP1L1 | c.309C>G (p.Leu103=) n.559C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622893G= | CA1763390153 | RP1L1 | c.309C= (p.Leu103=) n.559C= | |
8 | g.10622893G>T | CA459620457 | RP1L1 | c.309C>A (p.Leu103=) n.559C>A | COSMIC |
8 | g.10622894A= | CA1763390158 | RP1L1 | c.308T= (p.Leu103=) n.558T= | |
8 | g.10622894A>C | CA370300547 | RP1L1 | c.308T>G (p.Leu103Arg) n.558T>G | |
8 | g.10622894A>G | CA4625768 | RP1L1 | c.308T>C (p.Leu103Pro) n.558T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622894A>T | CA370300548 | RP1L1 | c.308T>A (p.Leu103His) n.558T>A | |
8 | g.10622895G>A | CA370300549 | RP1L1 | c.307C>T (p.Leu103Phe) n.557C>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622895G>C | CA370300550 | RP1L1 | c.307C>G (p.Leu103Val) n.557C>G | dbSNP |
8 | g.10622895G= | CA1763390162 | RP1L1 | c.307C= (p.Leu103=) n.557C= | |
8 | g.10622895G>T | CA370300551 | RP1L1 | c.307C>A (p.Leu103Ile) n.557C>A | |
8 | g.10622896G>A | CA459620460 | RP1L1 | c.306C>T (p.Tyr102=) n.556C>T | dbSNP gnomAD v4 |
8 | g.10622896G>C | CA370300552 | RP1L1 | c.306C>G (p.Tyr102Ter) n.556C>G | |
8 | g.10622896G= | CA1763390165 | RP1L1 | c.306C= (p.Tyr102=) n.556C= | |
8 | g.10622896G>T | CA370300553 | RP1L1 | c.306C>A (p.Tyr102Ter) n.556C>A | |
8 | g.10622897T>A | CA370300556 | RP1L1 | c.305A>T (p.Tyr102Phe) n.555A>T | |
8 | g.10622897T>C | CA370300558 | RP1L1 | c.305A>G (p.Tyr102Cys) n.555A>G | gnomAD v4 |
8 | g.10622897T>G | CA370300555 | RP1L1 | c.305A>C (p.Tyr102Ser) n.555A>C | |
8 | g.10622898A= | CA1763390168 | RP1L1 | c.304T= (p.Tyr102=) n.554T= | |
8 | g.10622898A>C | CA370300559 | RP1L1 | c.304T>G (p.Tyr102Asp) n.554T>G | |
8 | g.10622898A>G | CA4625769 | RP1L1 | c.304T>C (p.Tyr102His) n.554T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622898A>T | CA370300561 | RP1L1 | c.304T>A (p.Tyr102Asn) n.554T>A | |
8 | g.10622899G>A | CA459620464 | RP1L1 | c.303C>T (p.Cys101=) n.553C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622899G>C | CA4625770 | RP1L1 | c.303C>G (p.Cys101Trp) n.553C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622899G= | CA1763390171 | RP1L1 | c.303C= (p.Cys101=) n.553C= | |
8 | g.10622899G>T | CA370300562 | RP1L1 | c.303C>A (p.Cys101Ter) n.553C>A | |
8 | g.10622899dup | CA2686114657 | RP1L1 | c.303dup (p.Tyr102LeufsTer5) n.553dup | gnomAD v4 |
8 | g.10622899_10622900delinsCA | CA2573142553 | RP1L1 | c.302_303delinsTG (p.Cys101Leu) n.552_553delinsTG | ClinVar dbSNP |
8 | g.10622900C>A | CA4625771 | RP1L1 | c.302G>T (p.Cys101Phe) n.552G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622900C= | CA1763390174 | RP1L1 | c.302G= (p.Cys101=) n.552G= | |
8 | g.10622900C>G | CA370300563 | RP1L1 | c.302G>C (p.Cys101Ser) n.552G>C | |
8 | g.10622900C>T | CA370300564 | RP1L1 | c.302G>A (p.Cys101Tyr) n.552G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622901A= | CA1763390177 | RP1L1 | c.301T= (p.Cys101=) n.551T= | |
8 | g.10622901A>C | CA370300566 | RP1L1 | c.301T>G (p.Cys101Gly) n.551T>G | |
8 | g.10622901A>G | CA370300568 | RP1L1 | c.301T>C (p.Cys101Arg) n.551T>C | |
8 | g.10622901A>T | CA370300569 | RP1L1 | c.301T>A (p.Cys101Ser) n.551T>A | |
8 | g.10622902G>A | CA459620470 | RP1L1 | c.300C>T (p.Gly100=) n.550C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622902G>C | CA4625772 | RP1L1 | c.300C>G (p.Gly100=) n.550C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10622902G= | CA1763390182 | RP1L1 | c.300C= (p.Gly100=) n.550C= | |
8 | g.10622902G>T | CA459620471 | RP1L1 | c.300C>A (p.Gly100=) n.550C>A | COSMIC |
8 | g.10622902dup | CA1763390181 | RP1L1 | c.300dup (p.Cys101LeufsTer6) n.550dup | dbSNP gnomAD v4 |
8 | g.10622903C>A | CA4625773 | RP1L1 | c.299G>T (p.Gly100Val) n.549G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622903C= | CA1763390187 | RP1L1 | c.299G= (p.Gly100=) n.549G= | |
8 | g.10622903C>G | CA370300573 | RP1L1 | c.299G>C (p.Gly100Ala) n.549G>C | |
8 | g.10622903C>T | CA370300571 | RP1L1 | c.299G>A (p.Gly100Asp) n.549G>A | |
8 | g.10622904del | CA2686114668 | RP1L1 | c.299del (p.Gly100AlafsTer?) n.549del | gnomAD v4 |
8 | g.10622903_10622910dup | CA1763390186 | RP1L1 | c.292_299dup (p.Cys101MetfsTer?) n.542_549dup | dbSNP gnomAD v4 |
8 | g.10622904C>A | CA370300574 | RP1L1 | c.298G>T (p.Gly100Cys) n.548G>T | |
8 | g.10622904C= | CA1763390189 | RP1L1 | c.298G= (p.Gly100=) n.548G= | |
8 | g.10622904C>G | CA4625774 | RP1L1 | c.298G>C (p.Gly100Arg) n.548G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622904C>T | CA370300577 | RP1L1 | c.298G>A (p.Gly100Ser) n.548G>A | |
8 | g.10622905T>A | CA459620478 | RP1L1 | c.297A>T (p.Gly99=) n.547A>T | |
8 | g.10622905T>C | CA459620479 | RP1L1 | c.297A>G (p.Gly99=) n.547A>G | gnomAD v4 |
8 | g.10622905T>G | CA459620480 | RP1L1 | c.297A>C (p.Gly99=) n.547A>C | |
8 | g.10622906C>A | CA370300578 | RP1L1 | c.296G>T (p.Gly99Val) n.546G>T | |
8 | g.10622906C= | CA1763390195 | RP1L1 | c.296G= (p.Gly99=) n.546G= | |
8 | g.10622906C>G | CA370300580 | RP1L1 | c.296G>C (p.Gly99Ala) n.546G>C | dbSNP gnomAD v4 |
8 | g.10622906C>T | CA370300581 | RP1L1 | c.296G>A (p.Gly99Glu) n.546G>A | dbSNP COSMIC |
8 | g.10622907C>A | CA370300586 | RP1L1 | c.295G>T (p.Gly99Ter) n.545G>T | |
8 | g.10622907C>G | CA370300583 | RP1L1 | c.295G>C (p.Gly99Arg) n.545G>C | |
8 | g.10622907C>T | CA370300584 | RP1L1 | c.295G>A (p.Gly99Arg) n.545G>A | |
8 | g.10622908A>C | CA370300587 | RP1L1 | c.294T>G (p.Asp98Glu) n.544T>G | |
8 | g.10622908A>G | CA459620282 | RP1L1 | c.294T>C (p.Asp98=) n.544T>C | gnomAD v4 |
8 | g.10622908A>T | CA370300588 | RP1L1 | c.294T>A (p.Asp98Glu) n.544T>A | |
8 | g.10622909T>A | CA370300590 | RP1L1 | c.293A>T (p.Asp98Val) n.543A>T | dbSNP gnomAD v2 |
8 | g.10622909T>C | CA4625775 | RP1L1 | c.293A>G (p.Asp98Gly) n.543A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622909T>G | CA370300592 | RP1L1 | c.293A>C (p.Asp98Ala) n.543A>C | gnomAD v4 |
8 | g.10622909T= | CA1763390201 | RP1L1 | c.293A= (p.Asp98=) n.543A= | |
8 | g.10622910C>A | CA370300594 | RP1L1 | c.292G>T (p.Asp98Tyr) n.542G>T | gnomAD v4 |
8 | g.10622910C= | CA1763390207 | RP1L1 | c.292G= (p.Asp98=) n.542G= | |
8 | g.10622910C>G | CA370300595 | RP1L1 | c.292G>C (p.Asp98His) n.542G>C | |
8 | g.10622910C>T | CA4625776 | RP1L1 | c.292G>A (p.Asp98Asn) n.542G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622911T>A | CA370300596 | RP1L1 | c.291A>T (p.Glu97Asp) n.541A>T | |
8 | g.10622911T>C | CA459620286 | RP1L1 | c.291A>G (p.Glu97=) n.541A>G | |
8 | g.10622911T>G | CA370300597 | RP1L1 | c.291A>C (p.Glu97Asp) n.541A>C | |
8 | g.10622912T>A | CA370300599 | RP1L1 | c.290A>T (p.Glu97Val) n.540A>T | |
8 | g.10622912T>C | CA370300602 | RP1L1 | c.290A>G (p.Glu97Gly) n.540A>G | |
8 | g.10622912T>G | CA370300601 | RP1L1 | c.290A>C (p.Glu97Ala) n.540A>C | gnomAD v4 |
8 | g.10622912T= | CA1763390211 | RP1L1 | c.290A= (p.Glu97=) n.540A= | |
8 | g.10622913C>A | CA370300603 | RP1L1 | c.289G>T (p.Glu97Ter) n.539G>T | |
8 | g.10622913C= | CA1763390217 | RP1L1 | c.289G= (p.Glu97=) n.539G= | |
8 | g.10622913C>G | CA4625777 | RP1L1 | c.289G>C (p.Glu97Gln) n.539G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.10622913C>T | CA370300605 | RP1L1 | c.289G>A (p.Glu97Lys) n.539G>A | |
8 | g.10622914dup | CA1763390215 | RP1L1 | c.289dup (p.Glu97GlyfsTer10) n.539dup | dbSNP |
8 | g.10622914C>A | CA459620287 | RP1L1 | c.288G>T (p.Leu96=) n.538G>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622914C= | CA1763390219 | RP1L1 | c.288G= (p.Leu96=) n.538G= | |
8 | g.10622914C>G | CA459620288 | RP1L1 | c.288G>C (p.Leu96=) n.538G>C | |
8 | g.10622914C>T | CA459620289 | RP1L1 | c.288G>A (p.Leu96=) n.538G>A | dbSNP gnomAD v4 |
8 | g.10622915A= | CA1763390222 | RP1L1 | c.287T= (p.Leu96=) n.537T= | |
8 | g.10622915A>C | CA370300606 | RP1L1 | c.287T>G (p.Leu96Arg) n.537T>G | |
8 | g.10622915A>G | CA370300608 | RP1L1 | c.287T>C (p.Leu96Pro) n.537T>C | |
8 | g.10622915A>T | CA4625778 | RP1L1 | c.287T>A (p.Leu96Gln) n.537T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622916G>A | CA459620293 | RP1L1 | c.286C>T (p.Leu96=) n.536C>T | dbSNP |
8 | g.10622916G>C | CA370300611 | RP1L1 | c.286C>G (p.Leu96Val) n.536C>G | |
8 | g.10622916G= | CA1763390225 | RP1L1 | c.286C= (p.Leu96=) n.536C= | |
8 | g.10622916G>T | CA370300612 | RP1L1 | c.286C>A (p.Leu96Met) n.536C>A | |
8 | g.10622917C>A | CA370300613 | RP1L1 | c.285G>T (p.Gln95His) n.535G>T | |
8 | g.10622917C= | CA1763390229 | RP1L1 | c.285G= (p.Gln95=) n.535G= | |
8 | g.10622917C>G | CA370300615 | RP1L1 | c.285G>C (p.Gln95His) n.535G>C | dbSNP |
8 | g.10622917C>T | CA459620294 | RP1L1 | c.285G>A (p.Gln95=) n.535G>A | gnomAD v4 COSMIC |
8 | g.10622918T>A | CA4625779 | RP1L1 | c.284A>T (p.Gln95Leu) n.534A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622918T>C | CA370300617 | RP1L1 | c.284A>G (p.Gln95Arg) n.534A>G | |
8 | g.10622918T>G | CA370300619 | RP1L1 | c.284A>C (p.Gln95Pro) n.534A>C | |
8 | g.10622918T= | CA1763390233 | RP1L1 | c.284A= (p.Gln95=) n.534A= | |
8 | g.10622919G>A | CA370300621 | RP1L1 | c.283C>T (p.Gln95Ter) n.533C>T | ClinVar dbSNP |
8 | g.10622919G>C | CA370300624 | RP1L1 | c.283C>G (p.Gln95Glu) n.533C>G | |
8 | g.10622919G= | CA1763390237 | RP1L1 | c.283C= (p.Gln95=) n.533C= | |
8 | g.10622919G>T | CA370300623 | RP1L1 | c.283C>A (p.Gln95Lys) n.533C>A | gnomAD v4 COSMIC |
8 | g.10622920C>A | CA370300626 | RP1L1 | c.282G>T (p.Glu94Asp) n.532G>T | |
8 | g.10622920C= | CA1763390241 | RP1L1 | c.282G= (p.Glu94=) n.532G= | |
8 | g.10622920C>G | CA370300627 | RP1L1 | c.282G>C (p.Glu94Asp) n.532G>C | |
8 | g.10622920C>T | CA459620296 | RP1L1 | c.282G>A (p.Glu94=) n.532G>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622921T>A | CA370300628 | RP1L1 | c.281A>T (p.Glu94Val) n.531A>T | |
8 | g.10622921T>C | CA370300630 | RP1L1 | c.281A>G (p.Glu94Gly) n.531A>G | dbSNP gnomAD v4 |
8 | g.10622921T>G | CA370300631 | RP1L1 | c.281A>C (p.Glu94Ala) n.531A>C | |
8 | g.10622921T= | CA1763390243 | RP1L1 | c.281A= (p.Glu94=) n.531A= | |
8 | g.10622922C>A | CA370300633 | RP1L1 | c.280G>T (p.Glu94Ter) n.530G>T | |
8 | g.10622922C= | CA1763390248 | RP1L1 | c.280G= (p.Glu94=) n.530G= | |
8 | g.10622922C>G | CA171954839 | RP1L1 | c.280G>C (p.Glu94Gln) n.530G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.10622922C>T | CA370300635 | RP1L1 | c.280G>A (p.Glu94Lys) n.530G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622923C>A | CA459620297 | RP1L1 | c.279G>T (p.Leu93=) n.529G>T | |
8 | g.10622923C>G | CA459620298 | RP1L1 | c.279G>C (p.Leu93=) n.529G>C | |
8 | g.10622923C>T | CA459620299 | RP1L1 | c.279G>A (p.Leu93=) n.529G>A | |
8 | g.10622924A= | CA1763390251 | RP1L1 | c.278T= (p.Leu93=) n.528T= | |
8 | g.10622924A>C | CA370300636 | RP1L1 | c.278T>G (p.Leu93Arg) n.528T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.10622924A>G | CA370300637 | RP1L1 | c.278T>C (p.Leu93Pro) n.528T>C | |
8 | g.10622924A>T | CA370300638 | RP1L1 | c.278T>A (p.Leu93Gln) n.528T>A | |
8 | g.10622925G>A | CA459620302 | RP1L1 | c.277C>T (p.Leu93=) n.527C>T | dbSNP gnomAD v2 |
8 | g.10622925G>C | CA370300640 | RP1L1 | c.277C>G (p.Leu93Val) n.527C>G | |
8 | g.10622925G= | CA1763390254 | RP1L1 | c.277C= (p.Leu93=) n.527C= | |
8 | g.10622925G>T | CA370300643 | RP1L1 | c.277C>A (p.Leu93Met) n.527C>A | |
8 | g.10622927dup | CA2686114686 | RP1L1 | c.277dup (p.Leu93ProfsTer14) n.527dup | gnomAD v4 |
8 | g.10622926G>A | CA4625780 | RP1L1 | c.276C>T (p.Ala92=) n.526C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622926G>C | CA459620303 | RP1L1 | c.276C>G (p.Ala92=) n.526C>G | |
8 | g.10622926G= | CA1763390256 | RP1L1 | c.276C= (p.Ala92=) n.526C= | |
8 | g.10622926G>T | CA459620304 | RP1L1 | c.276C>A (p.Ala92=) n.526C>A | |
8 | g.10622927G>A | CA10629898 | RP1L1 | c.275C>T (p.Ala92Val) n.525C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10622927G>C | CA370300647 | RP1L1 | c.275C>G (p.Ala92Gly) n.525C>G | |
8 | g.10622927G= | CA1763390261 | RP1L1 | c.275C= (p.Ala92=) n.525C= | |
8 | g.10622927G>T | CA370300648 | RP1L1 | c.275C>A (p.Ala92Asp) n.525C>A | dbSNP |
8 | g.10622928C>A | CA370300649 | RP1L1 | c.274G>T (p.Ala92Ser) n.524G>T | ClinVar gnomAD v4 |
8 | g.10622928C= | CA1763390267 | RP1L1 | c.274G= (p.Ala92=) n.524G= | |
8 | g.10622928C>G | CA370300652 | RP1L1 | c.274G>C (p.Ala92Pro) n.524G>C | |
8 | g.10622928C>T | CA4625781 | RP1L1 | c.274G>A (p.Ala92Thr) n.524G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |