8 | g.10607629_10608237del | CA2579753932 | RP1L1 | c.5879_6487del (p.Val1960_Glu2162del)
| ClinVar |
8 | g.10608126_10608359del | CA1110638846 | RP1L1 | c.5755_5988del (p.Thr1919_Glu1996del)
| gnomAD v3 gnomAD v4 |
8 | g.10608142_10608210dup | CA2686113010 | RP1L1 | c.5903_5971dup (p.Glu1990_Gly1991insGluGluAlaGlnProGluSerGluAspValGluAlaLeuGluValGluValGluThrGlnGluAlaGlu)
| gnomAD v4 |
8 | g.10608142_10608210del | CA1110638878 | RP1L1 | c.5903_5971del (p.Glu1968_Glu1990del)
| gnomAD v3 gnomAD v4 |
8 | g.10608171_10608335del | CA1110638918 | RP1L1 | c.5779_5943del (p.Thr1927_Glu1981del)
| gnomAD v3 gnomAD v4 |
8 | g.10608159_10608263del | CA1110638921 | RP1L1 | c.5837_5941del (p.Ala1946_Leu1980del)
| gnomAD v3 gnomAD v4 |
8 | g.10608190_10608237del | CA2686113014 | RP1L1 | c.5879_5926del (p.Val1960_Glu1975del)
| gnomAD v4 |
8 | g.10608182_10608205dup | CA918199243 | RP1L1 | c.5896_5919dup (p.Glu1973_Ser1974insAlaGluGluGluAlaGlnProGlu)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10608190_10608238delinsCTTCCTCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGT | CA1763377920 | RP1L1 | c.5860_5908delinsACCCAGCCAGAGTCAGAAGTTATAGAGTCCCAGGAGGCAGAAGAGGAAG (p.Thr1954=)
| |
8 | g.10608191_10608238del | CA4623504 | RP1L1 | c.5860_5907del (p.Thr1954_Glu1969del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608193_10608240del | CA370280014 | RP1L1 | c.5859_5906del (p.Thr1954_Glu1969del)
| |
8 | g.10608195_10608243delinsTCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGTCTGCC | CA1763377929 | RP1L1 | c.5855_5903delinsGGCAGACCCAGCCAGAGTCAGAAGTTATAGAGTCCCAGGAGGCAGAAGA (p.Gly1952=)
| |
8 | g.10608211_10608258del | CA580030417 | RP1L1 | c.5855_5902del (p.Gly1952_Glu1967del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608197_10608241del | CA1110638990 | RP1L1 | c.5857_5901del (p.Gln1953_Glu1967del)
| gnomAD v3 gnomAD v4 |
8 | g.10608203_10608239del | CA2695208892 | RP1L1 | c.5860_5896del (p.Thr1954GlnfsTer12)
| |
8 | g.10608205C>A | CA370280044 | RP1L1 | c.5893G>T (p.Glu1965Ter)
| |
8 | g.10608205C= | CA1763377942 | RP1L1 | c.5893G= (p.Glu1965=)
| |
8 | g.10608205C>G | CA370280043 | RP1L1 | c.5893G>C (p.Glu1965Gln)
| |
8 | g.10608205C>T | CA370280042 | RP1L1 | c.5893G>A (p.Glu1965Lys)
| dbSNP gnomAD v4 |
8 | g.10608206del | CA1110639005 | RP1L1 | c.5893del (p.Glu1965ArgfsTer13)
| gnomAD v3 gnomAD v4 |
8 | g.10608206C>A | CA370280046 | RP1L1 | c.5892G>T (p.Gln1964His)
| |
8 | g.10608206C>G | CA370280045 | RP1L1 | c.5892G>C (p.Gln1964His)
| |
8 | g.10608206C>T | CA459617032 | RP1L1 | c.5892G>A (p.Gln1964=)
| gnomAD v3 gnomAD v4 |
8 | g.10608207T>A | CA171940484 | RP1L1 | c.5891A>T (p.Gln1964Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608207T>C | CA370280047 | RP1L1 | c.5891A>G (p.Gln1964Arg)
| |
8 | g.10608207T>G | CA370280048 | RP1L1 | c.5891A>C (p.Gln1964Pro)
| gnomAD v3 gnomAD v4 |
8 | g.10608207T= | CA1763377945 | RP1L1 | c.5891A= (p.Gln1964=)
| |
8 | g.10608207_10608208delinsTG | CA1763377944 | RP1L1 | c.5890_5891delinsCA (p.Gln1964=)
| |
8 | g.10608208G>A | CA171940486 | RP1L1 | c.5890C>T (p.Gln1964Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608208G>C | CA370280049 | RP1L1 | c.5890C>G (p.Gln1964Glu)
| |
8 | g.10608208G= | CA1763377947 | RP1L1 | c.5890C= (p.Gln1964=)
| |
8 | g.10608208G>T | CA370280050 | RP1L1 | c.5890C>A (p.Gln1964Lys)
| |
8 | g.10608210dup | CA1110639011 | RP1L1 | c.5890dup (p.Gln1964ProfsTer20)
| gnomAD v3 gnomAD v4 |
8 | g.10608210del | CA459617033 | RP1L1 | c.5890del (p.Gln1964ArgfsTer14)
| dbSNP |
8 | g.10608209G>A | CA459617034 | RP1L1 | c.5889C>T (p.Ser1963=)
| dbSNP gnomAD v4 |
8 | g.10608209G>C | CA459617035 | RP1L1 | c.5889C>G (p.Ser1963=)
| dbSNP |
8 | g.10608209G= | CA1763377949 | RP1L1 | c.5889C= (p.Ser1963=)
| |
8 | g.10608209G>T | CA459617036 | RP1L1 | c.5889C>A (p.Ser1963=)
| gnomAD v4 |
8 | g.10608210G>A | CA370280051 | RP1L1 | c.5888C>T (p.Ser1963Phe)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10608210G>C | CA370280052 | RP1L1 | c.5888C>G (p.Ser1963Cys)
| |
8 | g.10608210G= | CA1763377951 | RP1L1 | c.5888C= (p.Ser1963=)
| |
8 | g.10608210G>T | CA370280053 | RP1L1 | c.5888C>A (p.Ser1963Tyr)
| gnomAD v4 |
8 | g.10608210_10608211insTCTCC | CA2686113016 | RP1L1 | c.5887_5888insGGAGA (p.Ser1963TrpfsTer17)
| gnomAD v4 |
8 | g.10608211A= | CA1763377953 | RP1L1 | c.5887T= (p.Ser1963=)
| |
8 | g.10608211A>C | CA171940488 | RP1L1 | c.5887T>G (p.Ser1963Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608211A>G | CA370280054 | RP1L1 | c.5887T>C (p.Ser1963Pro)
| dbSNP |
8 | g.10608211A>T | CA370280055 | RP1L1 | c.5887T>A (p.Ser1963Thr)
| dbSNP gnomAD v3 gnomAD v4 |
8 | g.10608211_10608242del | CA1110639018 | RP1L1 | c.5856_5887del (p.Gln1953ProfsTer20)
| gnomAD v3 gnomAD v4 |
8 | g.10608212C>A | CA370280057 | RP1L1 | c.5886G>T (p.Glu1962Asp)
| |
8 | g.10608212C= | CA1763377956 | RP1L1 | c.5886G= (p.Glu1962=)
| |