Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.10622749_10622828dupCA2779033567RP1L1c.375_454dup (p.Arg152LeufsTer32)
n.625_704dup
8g.10622794_10622881delCA2779033574RP1L1c.329_416del (p.Pro110GlnfsTer18)
n.579_666del
8g.10622828G>ACA370300366RP1L1c.374C>T (p.Thr125Ile)
n.624C>T
8g.10622828G>CCA370300368RP1L1c.374C>G (p.Thr125Ser)
n.624C>G
dbSNP gnomAD v4
8g.10622828G>TCA370300369RP1L1c.374C>A (p.Thr125Asn)
n.624C>A
8g.10622829T>ACA370300371RP1L1c.373A>T (p.Thr125Ser)
n.623A>T
8g.10622829T>CCA370300373RP1L1c.373A>G (p.Thr125Ala)
n.623A>G
8g.10622829T>GCA171954751RP1L1c.373A>C (p.Thr125Pro)
n.623A>C
dbSNP
8g.10622829T=CA1763389944RP1L1c.373A= (p.Thr125=)
n.623A=
8g.10622830G>ACA459620360RP1L1c.372C>T (p.Pro124=)
n.622C>T
gnomAD v4
8g.10622830G>CCA459620359RP1L1c.372C>G (p.Pro124=)
n.622C>G
gnomAD v4
8g.10622830G>TCA459620361RP1L1c.372C>A (p.Pro124=)
n.622C>A
gnomAD v4
8g.10622833dupCA2779033579RP1L1c.372dup (p.Thr125HisfsTer13)
n.622dup
8g.10622831G>ACA4625736RP1L1c.371C>T (p.Pro124Leu)
n.621C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622831G>CCA370300375RP1L1c.371C>G (p.Pro124Arg)
n.621C>G
dbSNP
8g.10622831G=CA1763389950RP1L1c.371C= (p.Pro124=)
n.621C=
8g.10622831G>TCA370300377RP1L1c.371C>A (p.Pro124His)
n.621C>A
8g.10622832G>ACA370300379RP1L1c.370C>T (p.Pro124Ser)
n.620C>T
gnomAD v4
8g.10622832G>CCA171954755RP1L1c.370C>G (p.Pro124Ala)
n.620C>G
ClinVar dbSNP gnomAD v4
8g.10622832G=CA1763389953RP1L1c.370C= (p.Pro124=)
n.620C=
8g.10622832G>TCA370300380RP1L1c.370C>A (p.Pro124Thr)
n.620C>A
8g.10622832_10622837dupCA2686114620RP1L1c.365_370dup (p.Asn123_Pro124insArgAsn)
n.615_620dup
gnomAD v4
8g.10622833G>ACA459620367RP1L1c.369C>T (p.Asn123=)
n.619C>T
gnomAD v4
8g.10622833G>CCA370300384RP1L1c.369C>G (p.Asn123Lys)
n.619C>G
8g.10622833G>TCA370300382RP1L1c.369C>A (p.Asn123Lys)
n.619C>A
COSMIC
8g.10622834T>ACA370300385RP1L1c.368A>T (p.Asn123Ile)
n.618A>T
8g.10622834T>CCA370300387RP1L1c.368A>G (p.Asn123Ser)
n.618A>G
8g.10622834T>GCA370300388RP1L1c.368A>C (p.Asn123Thr)
n.618A>C
8g.10622835T>ACA370300389RP1L1c.367A>T (p.Asn123Tyr)
n.617A>T
dbSNP
8g.10622835T>CCA370300390RP1L1c.367A>G (p.Asn123Asp)
n.617A>G
dbSNP gnomAD v3 gnomAD v4
8g.10622835T>GCA370300392RP1L1c.367A>C (p.Asn123His)
n.617A>C
8g.10622835T=CA1763389958RP1L1c.367A= (p.Asn123=)
n.617A=
8g.10622835_10622837delinsTTCCA1763389957RP1L1c.365_367delinsGAA (p.Arg122=)
n.615_617delinsGAA
8g.10622836T>ACA370300394RP1L1c.366A>T (p.Arg122Ser)
n.616A>T
8g.10622836T>CCA459620369RP1L1c.366A>G (p.Arg122=)
n.616A>G
dbSNP gnomAD v2 gnomAD v4
8g.10622836T>GCA370300395RP1L1c.366A>C (p.Arg122Ser)
n.616A>C
8g.10622836T=CA1763389961RP1L1c.366A= (p.Arg122=)
n.616A=
8g.10622840_10622841delCA4625737RP1L1c.365_366del (p.Arg122LysfsTer15)
n.615_616del
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622837C>ACA370300397RP1L1c.365G>T (p.Arg122Ile)
n.615G>T
8g.10622837C>GCA370300399RP1L1c.365G>C (p.Arg122Thr)
n.615G>C
ClinVar gnomAD v4
8g.10622837C>TCA370300401RP1L1c.365G>A (p.Arg122Lys)
n.615G>A
8g.10622838T>ACA370300402RP1L1c.364A>T (p.Arg122Ter)
n.614A>T
8g.10622838T>CCA171954757RP1L1c.364A>G (p.Arg122Gly)
n.614A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622838T>GCA459620373RP1L1c.364A>C (p.Arg122=)
n.614A>C
8g.10622838T=CA1763389964RP1L1c.364A= (p.Arg122=)
n.614A=
8g.10622839C>ACA4625738RP1L1c.363G>T (p.Glu121Asp)
n.613G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.10622839C=CA1763389968RP1L1c.363G= (p.Glu121=)
n.613G=
8g.10622839C>GCA370300403RP1L1c.363G>C (p.Glu121Asp)
n.613G>C
dbSNP gnomAD v2 gnomAD v4
8g.10622839C>TCA459620375RP1L1c.363G>A (p.Glu121=)
n.613G>A
dbSNP gnomAD v2 gnomAD v4
8g.10622840T>ACA370300404RP1L1c.362A>T (p.Glu121Val)
n.612A>T
8g.10622840T>CCA370300405RP1L1c.362A>G (p.Glu121Gly)
n.612A>G
COSMIC
8g.10622840T>GCA370300407RP1L1c.362A>C (p.Glu121Ala)
n.612A>C
8g.10622841C>ACA370300409RP1L1c.361G>T (p.Glu121Ter)
n.611G>T
8g.10622841C=CA1763389972RP1L1c.361G= (p.Glu121=)
n.611G=
8g.10622841C>GCA4625739RP1L1c.361G>C (p.Glu121Gln)
n.611G>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622841C>TCA171954762RP1L1c.361G>A (p.Glu121Lys)
n.611G>A
ClinVar dbSNP COSMIC
8g.10622842C>ACA370300412RP1L1c.360G>T (p.Gln120His)
n.610G>T
ClinVar
8g.10622842C>GCA370300410RP1L1c.360G>C (p.Gln120His)
n.610G>C
8g.10622842C>TCA459620380RP1L1c.360G>A (p.Gln120=)
n.610G>A
COSMIC
8g.10622843T>ACA370300413RP1L1c.359A>T (p.Gln120Leu)
n.609A>T
8g.10622843T>CCA370300414RP1L1c.359A>G (p.Gln120Arg)
n.609A>G
8g.10622843T>GCA370300415RP1L1c.359A>C (p.Gln120Pro)
n.609A>C
8g.10622844G>ACA171954764RP1L1c.358C>T (p.Gln120Ter)
n.608C>T
dbSNP gnomAD v4
8g.10622844G>CCA370300417RP1L1c.358C>G (p.Gln120Glu)
n.608C>G
8g.10622844G=CA1763389976RP1L1c.358C= (p.Gln120=)
n.608C=
8g.10622844G>TCA370300419RP1L1c.358C>A (p.Gln120Lys)
n.608C>A
ClinVar dbSNP
8g.10622845T>ACA459620382RP1L1c.357A>T (p.Pro119=)
n.607A>T
8g.10622845T>CCA459620383RP1L1c.357A>G (p.Pro119=)
n.607A>G
gnomAD v4
8g.10622845T>GCA459620384RP1L1c.357A>C (p.Pro119=)
n.607A>C
gnomAD v4
8g.10622846G>ACA4625740RP1L1c.356C>T (p.Pro119Leu)
n.606C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622846G>CCA370300422RP1L1c.356C>G (p.Pro119Arg)
n.606C>G
8g.10622846G=CA1763389979RP1L1c.356C= (p.Pro119=)
n.606C=
8g.10622846G>TCA370300421RP1L1c.356C>A (p.Pro119Gln)
n.606C>A
dbSNP
8g.10622850_10622853delCA2579091972RP1L1c.353_356del (p.Arg118HisfsTer?)
n.603_606del
ClinVar gnomAD v4
8g.10622847G>ACA4625741RP1L1c.355C>T (p.Pro119Ser)
n.605C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622847G>CCA370300423RP1L1c.355C>G (p.Pro119Ala)
n.605C>G
8g.10622847G=CA1763389983RP1L1c.355C= (p.Pro119=)
n.605C=
8g.10622847G>TCA370300424RP1L1c.355C>A (p.Pro119Thr)
n.605C>A
dbSNP
8g.10622848C>ACA459620385RP1L1c.354G>T (p.Arg118=)
n.604G>T
8g.10622848C=CA1763389988RP1L1c.354G= (p.Arg118=)
n.604G=
8g.10622848C>GCA459620386RP1L1c.354G>C (p.Arg118=)
n.604G>C
8g.10622848C>TCA4625742RP1L1c.354G>A (p.Arg118=)
n.604G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622849C>ACA370300426RP1L1c.353G>T (p.Arg118Leu)
n.603G>T
8g.10622849C=CA1763389993RP1L1c.353G= (p.Arg118=)
n.603G=
8g.10622849C>GCA370300428RP1L1c.353G>C (p.Arg118Pro)
n.603G>C
8g.10622849C>TCA4625743RP1L1c.353G>A (p.Arg118Gln)
n.603G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622850G>ACA4625744RP1L1c.352C>T (p.Arg118Trp)
n.602C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622850G>CCA370300430RP1L1c.352C>G (p.Arg118Gly)
n.602C>G
8g.10622850G=CA1763389999RP1L1c.352C= (p.Arg118=)
n.602C=
8g.10622850G>TCA459620389RP1L1c.352C>A (p.Arg118=)
n.602C>A
8g.10622851G>ACA4625745RP1L1c.351C>T (p.Gly117=)
n.601C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622851G>CCA171954773RP1L1c.351C>G (p.Gly117=)
n.601C>G
dbSNP
8g.10622851G=CA1763390004RP1L1c.351C= (p.Gly117=)
n.601C=
8g.10622851G>TCA459620390RP1L1c.351C>A (p.Gly117=)
n.601C>A
8g.10622852C>ACA370300432RP1L1c.350G>T (p.Gly117Val)
n.600G>T
gnomAD v4
8g.10622852C=CA1763390009RP1L1c.350G= (p.Gly117=)
n.600G=
8g.10622852C>GCA370300434RP1L1c.350G>C (p.Gly117Ala)
n.600G>C
8g.10622852C>TCA4625746RP1L1c.350G>A (p.Gly117Asp)
n.600G>A
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622853dupCA2686114626RP1L1c.350dup (p.Arg118ProfsTer20)
n.600dup
gnomAD v4
8g.10622853C>ACA370300439RP1L1c.349G>T (p.Gly117Cys)
n.599G>T
8g.10622853C>GCA370300436RP1L1c.349G>C (p.Gly117Arg)
n.599G>C
8g.10622853C>TCA370300438RP1L1c.349G>A (p.Gly117Ser)
n.599G>A
gnomAD v4
8g.10622854T>ACA459620393RP1L1c.348A>T (p.Pro116=)
n.598A>T
ClinVar gnomAD v4
8g.10622854T>CCA459620394RP1L1c.348A>G (p.Pro116=)
n.598A>G
gnomAD v4
8g.10622854T>GCA459620395RP1L1c.348A>C (p.Pro116=)
n.598A>C
8g.10622855G>ACA370300441RP1L1c.347C>T (p.Pro116Leu)
n.597C>T
gnomAD v4
8g.10622855G>CCA370300442RP1L1c.347C>G (p.Pro116Arg)
n.597C>G
ClinVar gnomAD v4
8g.10622855G>TCA370300443RP1L1c.347C>A (p.Pro116Gln)
n.597C>A
8g.10622856G>ACA370300445RP1L1c.346C>T (p.Pro116Ser)
n.596C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622856G>CCA171954777RP1L1c.346C>G (p.Pro116Ala)
n.596C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622856G=CA1763390015RP1L1c.346C= (p.Pro116=)
n.596C=
8g.10622856G>TCA370300447RP1L1c.346C>A (p.Pro116Thr)
n.596C>A
8g.10622857T>ACA459620397RP1L1c.345A>T (p.Gly115=)
n.595A>T
8g.10622857T>CCA171954779RP1L1c.345A>G (p.Gly115=)
n.595A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622857T>GCA459620398RP1L1c.345A>C (p.Gly115=)
n.595A>C
8g.10622857T=CA1763390020RP1L1c.345A= (p.Gly115=)
n.595A=
8g.10622858C>ACA370300448RP1L1c.344G>T (p.Gly115Val)
n.594G>T
gnomAD v4
8g.10622858C=CA1763390022RP1L1c.344G= (p.Gly115=)
n.594G=
8g.10622858C>GCA370300449RP1L1c.344G>C (p.Gly115Ala)
n.594G>C
8g.10622858C>TCA370300450RP1L1c.344G>A (p.Gly115Glu)
n.594G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622859C>ACA370300452RP1L1c.343G>T (p.Gly115Ter)
n.593G>T
8g.10622859C>GCA370300453RP1L1c.343G>C (p.Gly115Arg)
n.593G>C
8g.10622859C>TCA370300455RP1L1c.343G>A (p.Gly115Arg)
n.593G>A
8g.10622860A=CA1763390028RP1L1c.342T= (p.Ser114=)
n.592T=
8g.10622860A>CCA171954781RP1L1c.342T>G (p.Ser114Arg)
n.592T>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622860A>GCA4625748RP1L1c.342T>C (p.Ser114=)
n.592T>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622860A>TCA370300457RP1L1c.342T>A (p.Ser114Arg)
n.592T>A
dbSNP
8g.10622861C>ACA370300461RP1L1c.341G>T (p.Ser114Ile)
n.591G>T
8g.10622861C=CA1763390031RP1L1c.341G= (p.Ser114=)
n.591G=
8g.10622861C>GCA370300462RP1L1c.341G>C (p.Ser114Thr)
n.591G>C
8g.10622861C>TCA370300460RP1L1c.341G>A (p.Ser114Asn)
n.591G>A
dbSNP gnomAD v4
8g.10622863_10622882dupCA4625747RP1L1c.322_341dup (p.Ser114ArgfsTer?)
n.572_591dup
dbSNP ExAC gnomAD v2
8g.10622862T>ACA370300464RP1L1c.340A>T (p.Ser114Cys)
n.590A>T
8g.10622862T>CCA370300466RP1L1c.340A>G (p.Ser114Gly)
n.590A>G
gnomAD v4
8g.10622862T>GCA370300467RP1L1c.340A>C (p.Ser114Arg)
n.590A>C
8g.10622862T=CA1763390033RP1L1c.340A= (p.Ser114=)
n.590A=
8g.10622863G>ACA459620403RP1L1c.339C>T (p.Pro113=)
n.589C>T
dbSNP gnomAD v4
8g.10622863G>CCA459620404RP1L1c.339C>G (p.Pro113=)
n.589C>G
gnomAD v4
8g.10622863G=CA1763390035RP1L1c.339C= (p.Pro113=)
n.589C=
8g.10622863G>TCA459620405RP1L1c.339C>A (p.Pro113=)
n.589C>A
8g.10622867dupCA580030623RP1L1c.339dup (p.Ser114GlnfsTer24)
n.589dup
dbSNP gnomAD v2 gnomAD v4
8g.10622867delCA2579091973RP1L1c.339del (p.Ser114ValfsTer?)
n.589del
gnomAD v4
8g.10622865_10622867delCA2686114630RP1L1c.337_339del (p.Pro113del)
n.587_589del
gnomAD v4
8g.10622864G>ACA370300469RP1L1c.338C>T (p.Pro113Leu)
n.588C>T
gnomAD v4
8g.10622864G>CCA370300470RP1L1c.338C>G (p.Pro113Arg)
n.588C>G
gnomAD v4
8g.10622864G>TCA370300472RP1L1c.338C>A (p.Pro113His)
n.588C>A
gnomAD v4
8g.10622865G>ACA4625749RP1L1c.337C>T (p.Pro113Ser)
n.587C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622865G>CCA370300473RP1L1c.337C>G (p.Pro113Ala)
n.587C>G
8g.10622865G=CA1763390039RP1L1c.337C= (p.Pro113=)
n.587C=
8g.10622865G>TCA370300475RP1L1c.337C>A (p.Pro113Thr)
n.587C>A
8g.10622866G>ACA171954793RP1L1c.336C>T (p.Thr112=)
n.586C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622866G>CCA459620410RP1L1c.336C>G (p.Thr112=)
n.586C>G
8g.10622866G=CA1763390046RP1L1c.336C= (p.Thr112=)
n.586C=
8g.10622866G>TCA4625750RP1L1c.336C>A (p.Thr112=)
n.586C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622866_10622867insACA2686114633RP1L1c.335_336insT (p.Ser114GlnfsTer24)
n.585_586insT
gnomAD v4
8g.10622867G>ACA4625752RP1L1c.335C>T (p.Thr112Ile)
n.585C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622867G>CCA4625751RP1L1c.335C>G (p.Thr112Ser)
n.585C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622867G=CA1763390054RP1L1c.335C= (p.Thr112=)
n.585C=
8g.10622867G>TCA370300477RP1L1c.335C>A (p.Thr112Asn)
n.585C>A
dbSNP
8g.10622868T>ACA370300478RP1L1c.334A>T (p.Thr112Ser)
n.584A>T
8g.10622868T>CCA370300482RP1L1c.334A>G (p.Thr112Ala)
n.584A>G
8g.10622868T>GCA370300480RP1L1c.334A>C (p.Thr112Pro)
n.584A>C
dbSNP
8g.10622868T=CA1763390057RP1L1c.334A= (p.Thr112=)
n.584A=
8g.10622869C>ACA370300483RP1L1c.333G>T (p.Lys111Asn)
n.583G>T
dbSNP gnomAD v2 gnomAD v4
8g.10622869C=CA1763390062RP1L1c.333G= (p.Lys111=)
n.583G=
8g.10622869C>GCA370300484RP1L1c.333G>C (p.Lys111Asn)
n.583G>C
8g.10622869C>TCA459620418RP1L1c.333G>A (p.Lys111=)
n.583G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.10622869_10622870delinsCTCA1763390060RP1L1c.332_333delinsAG (p.Lys111=)
n.582_583delinsAG
8g.10622870T>ACA370300486RP1L1c.332A>T (p.Lys111Met)
n.582A>T
8g.10622870T>CCA370300488RP1L1c.332A>G (p.Lys111Arg)
n.582A>G
dbSNP gnomAD v4
8g.10622870T>GCA370300489RP1L1c.332A>C (p.Lys111Thr)
n.582A>C
gnomAD v4
8g.10622870T=CA1763390069RP1L1c.332A= (p.Lys111=)
n.582A=
8g.10622871delCA916082972RP1L1c.332del (p.Lys111ArgfsTer?)
n.582del
ClinVar dbSNP
8g.10622870_10622871insGCA171954798RP1L1c.331_332insC (p.Lys111ThrfsTer27)
n.581_582insC
8g.10622871T>ACA370300491RP1L1c.331A>T (p.Lys111Ter)
n.581A>T
8g.10622871T>CCA370300493RP1L1c.331A>G (p.Lys111Glu)
n.581A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.10622871T>GCA370300495RP1L1c.331A>C (p.Lys111Gln)
n.581A>C
8g.10622871T=CA1763390079RP1L1c.331A= (p.Lys111=)
n.581A=
8g.10622871_10622872delinsTGCA1763390076RP1L1c.330_331delinsCA (p.Pro110=)
n.580_581delinsCA
8g.10622872G>ACA171954802RP1L1c.330C>T (p.Pro110=)
n.580C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.10622872G>CCA4625754RP1L1c.330C>G (p.Pro110=)
n.580C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622872G=CA1763390086RP1L1c.330C= (p.Pro110=)
n.580C=
8g.10622872G>TCA459620421RP1L1c.330C>A (p.Pro110=)
n.580C>A
gnomAD v4
8g.10622877dupCA4625753RP1L1c.330dup (p.Lys111GlnfsTer27)
n.580dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622877delCA580030624RP1L1c.330del (p.Lys111ArgfsTer?)
n.580del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622873G>ACA4625755RP1L1c.329C>T (p.Pro110Leu)
n.579C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622873G>CCA4625756RP1L1c.329C>G (p.Pro110Arg)
n.579C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622873G=CA1763390091RP1L1c.329C= (p.Pro110=)
n.579C=
8g.10622873G>TCA171954806RP1L1c.329C>A (p.Pro110His)
n.579C>A
dbSNP COSMIC
8g.10622874G>ACA4625757RP1L1c.328C>T (p.Pro110Ser)
n.578C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622874G>CCA370300498RP1L1c.328C>G (p.Pro110Ala)
n.578C>G
dbSNP gnomAD v2 gnomAD v4
8g.10622874G=CA1763390097RP1L1c.328C= (p.Pro110=)
n.578C=
8g.10622874G>TCA370300499RP1L1c.328C>A (p.Pro110Thr)
n.578C>A
dbSNP gnomAD v2 gnomAD v4
8g.10622875G>ACA4625759RP1L1c.327C>T (p.Pro109=)
n.577C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622875G>CCA459620425RP1L1c.327C>G (p.Pro109=)
n.577C>G
8g.10622875G=CA1763390104RP1L1c.327C= (p.Pro109=)
n.577C=
8g.10622875G>TCA459620426RP1L1c.327C>A (p.Pro109=)
n.577C>A
8g.10622875_10622876insACA4625758RP1L1c.326_327insT (p.Lys111GlnfsTer27)
n.576_577insT
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622876G>ACA4625760RP1L1c.326C>T (p.Pro109Leu)
n.576C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622876G>CCA370300500RP1L1c.326C>G (p.Pro109Arg)
n.576C>G
8g.10622876G=CA1763390108RP1L1c.326C= (p.Pro109=)
n.576C=
8g.10622876G>TCA4625761RP1L1c.326C>A (p.Pro109His)
n.576C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622876_10622877insACA2739290046RP1L1c.325_326insT (p.Pro109LeufsTer29)
n.575_576insT
8g.10622877G>ACA4625764RP1L1c.325C>T (p.Pro109Ser)
n.575C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622877G>CCA370300503RP1L1c.325C>G (p.Pro109Ala)
n.575C>G
dbSNP gnomAD v4
8g.10622877G=CA1763390115RP1L1c.325C= (p.Pro109=)
n.575C=
8g.10622877G>TCA4625763RP1L1c.325C>A (p.Pro109Thr)
n.575C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622877_10622878insACA4625762RP1L1c.324_325insT (p.Pro109SerfsTer29)
n.574_575insT
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622878C>ACA370300505RP1L1c.324G>T (p.Lys108Asn)
n.574G>T
8g.10622878C=CA1763390126RP1L1c.324G= (p.Lys108=)
n.574G=
8g.10622878C>GCA370300507RP1L1c.324G>C (p.Lys108Asn)
n.574G>C
8g.10622878C>TCA459620431RP1L1c.324G>A (p.Lys108=)
n.574G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622879T>ACA370300509RP1L1c.323A>T (p.Lys108Met)
n.573A>T
dbSNP gnomAD v3 gnomAD v4
8g.10622879T>CCA370300512RP1L1c.323A>G (p.Lys108Arg)
n.573A>G
8g.10622879T>GCA370300510RP1L1c.323A>C (p.Lys108Thr)
n.573A>C
dbSNP
8g.10622879T=CA1763390130RP1L1c.323A= (p.Lys108=)
n.573A=
8g.10622880T>ACA370300513RP1L1c.322A>T (p.Lys108Ter)
n.572A>T
8g.10622880T>CCA370300514RP1L1c.322A>G (p.Lys108Glu)
n.572A>G
8g.10622880T>GCA370300515RP1L1c.322A>C (p.Lys108Gln)
n.572A>C
8g.10622881C>ACA370300517RP1L1c.321G>T (p.Lys107Asn)
n.571G>T
COSMIC
8g.10622881C>GCA370300518RP1L1c.321G>C (p.Lys107Asn)
n.571G>C
ClinVar gnomAD v4
8g.10622881C>TCA459620433RP1L1c.321G>A (p.Lys107=)
n.571G>A
gnomAD v4
8g.10622882T>ACA370300519RP1L1c.320A>T (p.Lys107Met)
n.570A>T
8g.10622882T>CCA370300520RP1L1c.320A>G (p.Lys107Arg)
n.570A>G
8g.10622882T>GCA370300521RP1L1c.320A>C (p.Lys107Thr)
n.570A>C
8g.10622883T>ACA370300523RP1L1c.319A>T (p.Lys107Ter)
n.569A>T
8g.10622883T>CCA370300524RP1L1c.319A>G (p.Lys107Glu)
n.569A>G
8g.10622883T>GCA370300525RP1L1c.319A>C (p.Lys107Gln)
n.569A>C
8g.10622883_10622888delinsTATCAGCA1763390133RP1L1c.314_319delinsCTGATA (p.Ser105=)
n.564_569delinsCTGATA
8g.10622884A=CA1763390137RP1L1c.318T= (p.Asp106=)
n.568T=
8g.10622884A>CCA370300526RP1L1c.318T>G (p.Asp106Glu)
n.568T>G
8g.10622884A>GCA459620435RP1L1c.318T>C (p.Asp106=)
n.568T>C
dbSNP gnomAD v3 gnomAD v4
8g.10622884A>TCA370300527RP1L1c.318T>A (p.Asp106Glu)
n.568T>A
COSMIC
8g.10622885_10622889delCA580030625RP1L1c.314_318del (p.Ser105Ter)
n.564_568del
dbSNP gnomAD v2 gnomAD v4
8g.10622885T>ACA370300528RP1L1c.317A>T (p.Asp106Val)
n.567A>T
8g.10622885T>CCA370300530RP1L1c.317A>G (p.Asp106Gly)
n.567A>G
dbSNP gnomAD v2
8g.10622885T>GCA370300529RP1L1c.317A>C (p.Asp106Ala)
n.567A>C
dbSNP
8g.10622885T=CA1763390141RP1L1c.317A= (p.Asp106=)
n.567A=
8g.10622886C>ACA370300532RP1L1c.316G>T (p.Asp106Tyr)
n.566G>T
8g.10622886C>GCA370300533RP1L1c.316G>C (p.Asp106His)
n.566G>C
8g.10622886C>TCA370300534RP1L1c.316G>A (p.Asp106Asn)
n.566G>A
dbSNP
8g.10622887A>CCA459620443RP1L1c.315T>G (p.Ser105=)
n.565T>G
8g.10622887A>GCA459620446RP1L1c.315T>C (p.Ser105=)
n.565T>C
8g.10622887A>TCA459620447RP1L1c.315T>A (p.Ser105=)
n.565T>A
8g.10622888G>ACA370300535RP1L1c.314C>T (p.Ser105Phe)
n.564C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622888G>CCA370300536RP1L1c.314C>G (p.Ser105Cys)
n.564C>G
gnomAD v4
8g.10622888G=CA1763390143RP1L1c.314C= (p.Ser105=)
n.564C=
8g.10622888G>TCA370300537RP1L1c.314C>A (p.Ser105Tyr)
n.564C>A
8g.10622889A=CA1763390145RP1L1c.313T= (p.Ser105=)
n.563T=
8g.10622889A>CCA370300538RP1L1c.313T>G (p.Ser105Ala)
n.563T>G
8g.10622889A>GCA4625765RP1L1c.313T>C (p.Ser105Pro)
n.563T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622889A>TCA370300539RP1L1c.313T>A (p.Ser105Thr)
n.563T>A
8g.10622894_10622902delCA2686114638RP1L1c.305_313del (p.Tyr102_Cys104del)
n.555_563del
gnomAD v4
8g.10622890G>ACA459620449RP1L1c.312C>T (p.Cys104=)
n.562C>T
gnomAD v4 COSMIC
8g.10622890G>CCA370300540RP1L1c.312C>G (p.Cys104Trp)
n.562C>G
8g.10622890G>TCA370300541RP1L1c.312C>A (p.Cys104Ter)
n.562C>A
8g.10622891C>ACA370300543RP1L1c.311G>T (p.Cys104Phe)
n.561G>T
8g.10622891C=CA1763390148RP1L1c.311G= (p.Cys104=)
n.561G=
8g.10622891C>GCA370300542RP1L1c.311G>C (p.Cys104Ser)
n.561G>C
8g.10622891C>TCA4625766RP1L1c.311G>A (p.Cys104Tyr)
n.561G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622892A>CCA370300544RP1L1c.310T>G (p.Cys104Gly)
n.560T>G
8g.10622892A>GCA370300545RP1L1c.310T>C (p.Cys104Arg)
n.560T>C
8g.10622892A>TCA370300546RP1L1c.310T>A (p.Cys104Ser)
n.560T>A
8g.10622893G>ACA459620456RP1L1c.309C>T (p.Leu103=)
n.559C>T
gnomAD v4
8g.10622893G>CCA4625767RP1L1c.309C>G (p.Leu103=)
n.559C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622893G=CA1763390153RP1L1c.309C= (p.Leu103=)
n.559C=
8g.10622893G>TCA459620457RP1L1c.309C>A (p.Leu103=)
n.559C>A
COSMIC
8g.10622894A=CA1763390158RP1L1c.308T= (p.Leu103=)
n.558T=
8g.10622894A>CCA370300547RP1L1c.308T>G (p.Leu103Arg)
n.558T>G
8g.10622894A>GCA4625768RP1L1c.308T>C (p.Leu103Pro)
n.558T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622894A>TCA370300548RP1L1c.308T>A (p.Leu103His)
n.558T>A
8g.10622895G>ACA370300549RP1L1c.307C>T (p.Leu103Phe)
n.557C>T
dbSNP gnomAD v3 gnomAD v4
8g.10622895G>CCA370300550RP1L1c.307C>G (p.Leu103Val)
n.557C>G
dbSNP
8g.10622895G=CA1763390162RP1L1c.307C= (p.Leu103=)
n.557C=
8g.10622895G>TCA370300551RP1L1c.307C>A (p.Leu103Ile)
n.557C>A
8g.10622896G>ACA459620460RP1L1c.306C>T (p.Tyr102=)
n.556C>T
dbSNP gnomAD v4
8g.10622896G>CCA370300552RP1L1c.306C>G (p.Tyr102Ter)
n.556C>G
8g.10622896G=CA1763390165RP1L1c.306C= (p.Tyr102=)
n.556C=
8g.10622896G>TCA370300553RP1L1c.306C>A (p.Tyr102Ter)
n.556C>A
8g.10622897T>ACA370300556RP1L1c.305A>T (p.Tyr102Phe)
n.555A>T
8g.10622897T>CCA370300558RP1L1c.305A>G (p.Tyr102Cys)
n.555A>G
gnomAD v4
8g.10622897T>GCA370300555RP1L1c.305A>C (p.Tyr102Ser)
n.555A>C
8g.10622898A=CA1763390168RP1L1c.304T= (p.Tyr102=)
n.554T=
8g.10622898A>CCA370300559RP1L1c.304T>G (p.Tyr102Asp)
n.554T>G
8g.10622898A>GCA4625769RP1L1c.304T>C (p.Tyr102His)
n.554T>C
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622898A>TCA370300561RP1L1c.304T>A (p.Tyr102Asn)
n.554T>A
8g.10622899G>ACA459620464RP1L1c.303C>T (p.Cys101=)
n.553C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.10622899G>CCA4625770RP1L1c.303C>G (p.Cys101Trp)
n.553C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622899G=CA1763390171RP1L1c.303C= (p.Cys101=)
n.553C=
8g.10622899G>TCA370300562RP1L1c.303C>A (p.Cys101Ter)
n.553C>A
8g.10622899dupCA2686114657RP1L1c.303dup (p.Tyr102LeufsTer5)
n.553dup
gnomAD v4
8g.10622899_10622900delinsCACA2573142553RP1L1c.302_303delinsTG (p.Cys101Leu)
n.552_553delinsTG
ClinVar dbSNP
8g.10622900C>ACA4625771RP1L1c.302G>T (p.Cys101Phe)
n.552G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622900C=CA1763390174RP1L1c.302G= (p.Cys101=)
n.552G=
8g.10622900C>GCA370300563RP1L1c.302G>C (p.Cys101Ser)
n.552G>C
8g.10622900C>TCA370300564RP1L1c.302G>A (p.Cys101Tyr)
n.552G>A
dbSNP gnomAD v2 gnomAD v4
8g.10622901A=CA1763390177RP1L1c.301T= (p.Cys101=)
n.551T=
8g.10622901A>CCA370300566RP1L1c.301T>G (p.Cys101Gly)
n.551T>G
8g.10622901A>GCA370300568RP1L1c.301T>C (p.Cys101Arg)
n.551T>C
8g.10622901A>TCA370300569RP1L1c.301T>A (p.Cys101Ser)
n.551T>A
8g.10622902G>ACA459620470RP1L1c.300C>T (p.Gly100=)
n.550C>T
dbSNP gnomAD v2 gnomAD v4
8g.10622902G>CCA4625772RP1L1c.300C>G (p.Gly100=)
n.550C>G
dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622902G=CA1763390182RP1L1c.300C= (p.Gly100=)
n.550C=
8g.10622902G>TCA459620471RP1L1c.300C>A (p.Gly100=)
n.550C>A
COSMIC
8g.10622902dupCA1763390181RP1L1c.300dup (p.Cys101LeufsTer6)
n.550dup
dbSNP gnomAD v4
8g.10622903C>ACA4625773RP1L1c.299G>T (p.Gly100Val)
n.549G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622903C=CA1763390187RP1L1c.299G= (p.Gly100=)
n.549G=
8g.10622903C>GCA370300573RP1L1c.299G>C (p.Gly100Ala)
n.549G>C
8g.10622903C>TCA370300571RP1L1c.299G>A (p.Gly100Asp)
n.549G>A
8g.10622904delCA2686114668RP1L1c.299del (p.Gly100AlafsTer?)
n.549del
gnomAD v4
8g.10622903_10622910dupCA1763390186RP1L1c.292_299dup (p.Cys101MetfsTer?)
n.542_549dup
dbSNP gnomAD v4
8g.10622904C>ACA370300574RP1L1c.298G>T (p.Gly100Cys)
n.548G>T
8g.10622904C=CA1763390189RP1L1c.298G= (p.Gly100=)
n.548G=
8g.10622904C>GCA4625774RP1L1c.298G>C (p.Gly100Arg)
n.548G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622904C>TCA370300577RP1L1c.298G>A (p.Gly100Ser)
n.548G>A
8g.10622905T>ACA459620478RP1L1c.297A>T (p.Gly99=)
n.547A>T
8g.10622905T>CCA459620479RP1L1c.297A>G (p.Gly99=)
n.547A>G
gnomAD v4
8g.10622905T>GCA459620480RP1L1c.297A>C (p.Gly99=)
n.547A>C
8g.10622906C>ACA370300578RP1L1c.296G>T (p.Gly99Val)
n.546G>T
8g.10622906C=CA1763390195RP1L1c.296G= (p.Gly99=)
n.546G=
8g.10622906C>GCA370300580RP1L1c.296G>C (p.Gly99Ala)
n.546G>C
dbSNP gnomAD v4
8g.10622906C>TCA370300581RP1L1c.296G>A (p.Gly99Glu)
n.546G>A
dbSNP COSMIC
8g.10622907C>ACA370300586RP1L1c.295G>T (p.Gly99Ter)
n.545G>T
8g.10622907C>GCA370300583RP1L1c.295G>C (p.Gly99Arg)
n.545G>C
8g.10622907C>TCA370300584RP1L1c.295G>A (p.Gly99Arg)
n.545G>A
8g.10622908A>CCA370300587RP1L1c.294T>G (p.Asp98Glu)
n.544T>G
8g.10622908A>GCA459620282RP1L1c.294T>C (p.Asp98=)
n.544T>C
gnomAD v4
8g.10622908A>TCA370300588RP1L1c.294T>A (p.Asp98Glu)
n.544T>A
8g.10622909T>ACA370300590RP1L1c.293A>T (p.Asp98Val)
n.543A>T
dbSNP gnomAD v2
8g.10622909T>CCA4625775RP1L1c.293A>G (p.Asp98Gly)
n.543A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622909T>GCA370300592RP1L1c.293A>C (p.Asp98Ala)
n.543A>C
gnomAD v4
8g.10622909T=CA1763390201RP1L1c.293A= (p.Asp98=)
n.543A=
8g.10622910C>ACA370300594RP1L1c.292G>T (p.Asp98Tyr)
n.542G>T
gnomAD v4
8g.10622910C=CA1763390207RP1L1c.292G= (p.Asp98=)
n.542G=
8g.10622910C>GCA370300595RP1L1c.292G>C (p.Asp98His)
n.542G>C
8g.10622910C>TCA4625776RP1L1c.292G>A (p.Asp98Asn)
n.542G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622911T>ACA370300596RP1L1c.291A>T (p.Glu97Asp)
n.541A>T
8g.10622911T>CCA459620286RP1L1c.291A>G (p.Glu97=)
n.541A>G
8g.10622911T>GCA370300597RP1L1c.291A>C (p.Glu97Asp)
n.541A>C
8g.10622912T>ACA370300599RP1L1c.290A>T (p.Glu97Val)
n.540A>T
8g.10622912T>CCA370300602RP1L1c.290A>G (p.Glu97Gly)
n.540A>G
8g.10622912T>GCA370300601RP1L1c.290A>C (p.Glu97Ala)
n.540A>C
gnomAD v4
8g.10622912T=CA1763390211RP1L1c.290A= (p.Glu97=)
n.540A=
8g.10622913C>ACA370300603RP1L1c.289G>T (p.Glu97Ter)
n.539G>T
8g.10622913C=CA1763390217RP1L1c.289G= (p.Glu97=)
n.539G=
8g.10622913C>GCA4625777RP1L1c.289G>C (p.Glu97Gln)
n.539G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.10622913C>TCA370300605RP1L1c.289G>A (p.Glu97Lys)
n.539G>A
8g.10622914dupCA1763390215RP1L1c.289dup (p.Glu97GlyfsTer10)
n.539dup
dbSNP
8g.10622914C>ACA459620287RP1L1c.288G>T (p.Leu96=)
n.538G>T
dbSNP gnomAD v2 gnomAD v4
8g.10622914C=CA1763390219RP1L1c.288G= (p.Leu96=)
n.538G=
8g.10622914C>GCA459620288RP1L1c.288G>C (p.Leu96=)
n.538G>C
8g.10622914C>TCA459620289RP1L1c.288G>A (p.Leu96=)
n.538G>A
dbSNP gnomAD v4
8g.10622915A=CA1763390222RP1L1c.287T= (p.Leu96=)
n.537T=
8g.10622915A>CCA370300606RP1L1c.287T>G (p.Leu96Arg)
n.537T>G
8g.10622915A>GCA370300608RP1L1c.287T>C (p.Leu96Pro)
n.537T>C
8g.10622915A>TCA4625778RP1L1c.287T>A (p.Leu96Gln)
n.537T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622916G>ACA459620293RP1L1c.286C>T (p.Leu96=)
n.536C>T
dbSNP
8g.10622916G>CCA370300611RP1L1c.286C>G (p.Leu96Val)
n.536C>G
8g.10622916G=CA1763390225RP1L1c.286C= (p.Leu96=)
n.536C=
8g.10622916G>TCA370300612RP1L1c.286C>A (p.Leu96Met)
n.536C>A
8g.10622917C>ACA370300613RP1L1c.285G>T (p.Gln95His)
n.535G>T
8g.10622917C=CA1763390229RP1L1c.285G= (p.Gln95=)
n.535G=
8g.10622917C>GCA370300615RP1L1c.285G>C (p.Gln95His)
n.535G>C
dbSNP
8g.10622917C>TCA459620294RP1L1c.285G>A (p.Gln95=)
n.535G>A
gnomAD v4 COSMIC
8g.10622918T>ACA4625779RP1L1c.284A>T (p.Gln95Leu)
n.534A>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622918T>CCA370300617RP1L1c.284A>G (p.Gln95Arg)
n.534A>G
8g.10622918T>GCA370300619RP1L1c.284A>C (p.Gln95Pro)
n.534A>C
8g.10622918T=CA1763390233RP1L1c.284A= (p.Gln95=)
n.534A=
8g.10622919G>ACA370300621RP1L1c.283C>T (p.Gln95Ter)
n.533C>T
ClinVar dbSNP
8g.10622919G>CCA370300624RP1L1c.283C>G (p.Gln95Glu)
n.533C>G
8g.10622919G=CA1763390237RP1L1c.283C= (p.Gln95=)
n.533C=
8g.10622919G>TCA370300623RP1L1c.283C>A (p.Gln95Lys)
n.533C>A
gnomAD v4 COSMIC
8g.10622920C>ACA370300626RP1L1c.282G>T (p.Glu94Asp)
n.532G>T
8g.10622920C=CA1763390241RP1L1c.282G= (p.Glu94=)
n.532G=
8g.10622920C>GCA370300627RP1L1c.282G>C (p.Glu94Asp)
n.532G>C
8g.10622920C>TCA459620296RP1L1c.282G>A (p.Glu94=)
n.532G>A
dbSNP gnomAD v3 gnomAD v4
8g.10622921T>ACA370300628RP1L1c.281A>T (p.Glu94Val)
n.531A>T
8g.10622921T>CCA370300630RP1L1c.281A>G (p.Glu94Gly)
n.531A>G
dbSNP gnomAD v4
8g.10622921T>GCA370300631RP1L1c.281A>C (p.Glu94Ala)
n.531A>C
8g.10622921T=CA1763390243RP1L1c.281A= (p.Glu94=)
n.531A=
8g.10622922C>ACA370300633RP1L1c.280G>T (p.Glu94Ter)
n.530G>T
8g.10622922C=CA1763390248RP1L1c.280G= (p.Glu94=)
n.530G=
8g.10622922C>GCA171954839RP1L1c.280G>C (p.Glu94Gln)
n.530G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.10622922C>TCA370300635RP1L1c.280G>A (p.Glu94Lys)
n.530G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622923C>ACA459620297RP1L1c.279G>T (p.Leu93=)
n.529G>T
8g.10622923C>GCA459620298RP1L1c.279G>C (p.Leu93=)
n.529G>C
8g.10622923C>TCA459620299RP1L1c.279G>A (p.Leu93=)
n.529G>A
8g.10622924A=CA1763390251RP1L1c.278T= (p.Leu93=)
n.528T=
8g.10622924A>CCA370300636RP1L1c.278T>G (p.Leu93Arg)
n.528T>G
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.10622924A>GCA370300637RP1L1c.278T>C (p.Leu93Pro)
n.528T>C
8g.10622924A>TCA370300638RP1L1c.278T>A (p.Leu93Gln)
n.528T>A
8g.10622925G>ACA459620302RP1L1c.277C>T (p.Leu93=)
n.527C>T
dbSNP gnomAD v2
8g.10622925G>CCA370300640RP1L1c.277C>G (p.Leu93Val)
n.527C>G
8g.10622925G=CA1763390254RP1L1c.277C= (p.Leu93=)
n.527C=
8g.10622925G>TCA370300643RP1L1c.277C>A (p.Leu93Met)
n.527C>A
8g.10622927dupCA2686114686RP1L1c.277dup (p.Leu93ProfsTer14)
n.527dup
gnomAD v4
8g.10622926G>ACA4625780RP1L1c.276C>T (p.Ala92=)
n.526C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622926G>CCA459620303RP1L1c.276C>G (p.Ala92=)
n.526C>G
8g.10622926G=CA1763390256RP1L1c.276C= (p.Ala92=)
n.526C=
8g.10622926G>TCA459620304RP1L1c.276C>A (p.Ala92=)
n.526C>A
8g.10622927G>ACA10629898RP1L1c.275C>T (p.Ala92Val)
n.525C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622927G>CCA370300647RP1L1c.275C>G (p.Ala92Gly)
n.525C>G
8g.10622927G=CA1763390261RP1L1c.275C= (p.Ala92=)
n.525C=
8g.10622927G>TCA370300648RP1L1c.275C>A (p.Ala92Asp)
n.525C>A
dbSNP
8g.10622928C>ACA370300649RP1L1c.274G>T (p.Ala92Ser)
n.524G>T
ClinVar gnomAD v4
8g.10622928C=CA1763390267RP1L1c.274G= (p.Ala92=)
n.524G=
8g.10622928C>GCA370300652RP1L1c.274G>C (p.Ala92Pro)
n.524G>C
8g.10622928C>TCA4625781RP1L1c.274G>A (p.Ala92Thr)
n.524G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched