Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10611028G>A | CA370289400 | RP1L1 | c.3070C>T (p.Pro1024Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10611028G>C | CA370289401 | RP1L1 | c.3070C>G (p.Pro1024Ala) | dbSNP |
8 | g.10611028G= | CA1763383783 | RP1L1 | c.3070C= (p.Pro1024=) | |
8 | g.10611028G>T | CA370289402 | RP1L1 | c.3070C>A (p.Pro1024Thr) | |
8 | g.10611029C>A | CA370289403 | RP1L1 | c.3069G>T (p.Glu1023Asp) | gnomAD v4 |
8 | g.10611029C= | CA1763383784 | RP1L1 | c.3069G= (p.Glu1023=) | |
8 | g.10611029C>G | CA370289404 | RP1L1 | c.3069G>C (p.Glu1023Asp) | |
8 | g.10611029C>T | CA4624605 | RP1L1 | c.3069G>A (p.Glu1023=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611030T>A | CA370289405 | RP1L1 | c.3068A>T (p.Glu1023Val) | |
8 | g.10611030T>C | CA4624606 | RP1L1 | c.3068A>G (p.Glu1023Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10611030T>G | CA370289406 | RP1L1 | c.3068A>C (p.Glu1023Ala) | |
8 | g.10611030T= | CA1763383785 | RP1L1 | c.3068A= (p.Glu1023=) | |
8 | g.10611031C>A | CA370289408 | RP1L1 | c.3067G>T (p.Glu1023Ter) | |
8 | g.10611031C= | CA1763383786 | RP1L1 | c.3067G= (p.Glu1023=) | |
8 | g.10611031C>G | CA4624607 | RP1L1 | c.3067G>C (p.Glu1023Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10611031C>T | CA370289407 | RP1L1 | c.3067G>A (p.Glu1023Lys) | |
8 | g.10611032T>A | CA459618832 | RP1L1 | c.3066A>T (p.Pro1022=) | |
8 | g.10611032T>C | CA4624608 | RP1L1 | c.3066A>G (p.Pro1022=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10611032T>G | CA171944331 | RP1L1 | c.3066A>C (p.Pro1022=) | dbSNP gnomAD v4 |
8 | g.10611032T= | CA1763383787 | RP1L1 | c.3066A= (p.Pro1022=) | |
8 | g.10611032_10611033delinsTG | CA1763383788 | RP1L1 | c.3065_3066delinsCA (p.Pro1022=) | |
8 | g.10611033G>A | CA370289409 | RP1L1 | c.3065C>T (p.Pro1022Leu) | |
8 | g.10611033G>C | CA370289410 | RP1L1 | c.3065C>G (p.Pro1022Arg) | |
8 | g.10611033G>T | CA370289411 | RP1L1 | c.3065C>A (p.Pro1022Gln) | |
8 | g.10611035del | CA1763383789 | RP1L1 | c.3065del (p.Pro1022GlnfsTer?) | dbSNP |
8 | g.10611039_10611050dup | CA2779033954 | RP1L1 | c.3054_3065dup (p.Pro1022_Glu1023insGlyGlnAspPro) | |
8 | g.10611034G>A | CA370289412 | RP1L1 | c.3064C>T (p.Pro1022Ser) | gnomAD v4 |
8 | g.10611034G>C | CA370289413 | RP1L1 | c.3064C>G (p.Pro1022Ala) | |
8 | g.10611034G>T | CA370289414 | RP1L1 | c.3064C>A (p.Pro1022Thr) | |
8 | g.10611035G>A | CA459618843 | RP1L1 | c.3063C>T (p.Asp1021=) | |
8 | g.10611035G>C | CA370289415 | RP1L1 | c.3063C>G (p.Asp1021Glu) | |
8 | g.10611035G= | CA1763383790 | RP1L1 | c.3063C= (p.Asp1021=) | |
8 | g.10611035G>T | CA370289416 | RP1L1 | c.3063C>A (p.Asp1021Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10611036T>A | CA370289417 | RP1L1 | c.3062A>T (p.Asp1021Val) | gnomAD v4 |
8 | g.10611036T>C | CA370289418 | RP1L1 | c.3062A>G (p.Asp1021Gly) | |
8 | g.10611036T>G | CA370289419 | RP1L1 | c.3062A>C (p.Asp1021Ala) | |
8 | g.10611037C>A | CA370289422 | RP1L1 | c.3061G>T (p.Asp1021Tyr) | |
8 | g.10611037C= | CA1763383791 | RP1L1 | c.3061G= (p.Asp1021=) | |
8 | g.10611037C>G | CA370289420 | RP1L1 | c.3061G>C (p.Asp1021His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10611037C>T | CA370289421 | RP1L1 | c.3061G>A (p.Asp1021Asn) | |
8 | g.10611038C>A | CA370289423 | RP1L1 | c.3060G>T (p.Gln1020His) | |
8 | g.10611038C>G | CA370289424 | RP1L1 | c.3060G>C (p.Gln1020His) | |
8 | g.10611038C>T | CA459618854 | RP1L1 | c.3060G>A (p.Gln1020=) | COSMIC |
8 | g.10611039T>A | CA370289425 | RP1L1 | c.3059A>T (p.Gln1020Leu) | |
8 | g.10611039T>C | CA370289426 | RP1L1 | c.3059A>G (p.Gln1020Arg) | gnomAD v4 |
8 | g.10611039T>G | CA370289427 | RP1L1 | c.3059A>C (p.Gln1020Pro) | gnomAD v4 |
8 | g.10611040G>A | CA370289428 | RP1L1 | c.3058C>T (p.Gln1020Ter) | dbSNP gnomAD v2 |
8 | g.10611040G>C | CA370289429 | RP1L1 | c.3058C>G (p.Gln1020Glu) | |
8 | g.10611040G= | CA1763383792 | RP1L1 | c.3058C= (p.Gln1020=) | |
8 | g.10611040G>T | CA171944334 | RP1L1 | c.3058C>A (p.Gln1020Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |