Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.10608126_10608359del | CA1110638846 | RP1L1 | c.5755_5988del (p.Thr1919_Glu1996del) | gnomAD v3 gnomAD v4 |
8 | g.10608171_10608335del | CA1110638918 | RP1L1 | c.5779_5943del (p.Thr1927_Glu1981del) | gnomAD v3 gnomAD v4 |
8 | g.10608238_10608354del | CA1110639029 | RP1L1 | c.5755_5871del (p.Thr1919_Glu1957del) | gnomAD v3 gnomAD v4 |
8 | g.10608260_10608305delinsCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCG | CA1763378022 | RP1L1 | c.5793_5838delinsCGAGCCAGAGTCAGAAGGTGCAGAGGCCCAAGAGGCAGAAGAGGCG (p.Asp1931=) | |
8 | g.10608261_10608305del | CA1110639074 | RP1L1 | c.5793_5837del (p.Asp1931_Ala1946delinsGlu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10608305G>A | CA4623532 | RP1L1 | c.5793C>T (p.Asp1931=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608305G>C | CA370280254 | RP1L1 | c.5793C>G (p.Asp1931Glu) | gnomAD v4 |
8 | g.10608305G= | CA1763378081 | RP1L1 | c.5793C= (p.Asp1931=) | |
8 | g.10608305G>T | CA370280255 | RP1L1 | c.5793C>A (p.Asp1931Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10608306T>A | CA370280256 | RP1L1 | c.5792A>T (p.Asp1931Val) | |
8 | g.10608306T>C | CA370280257 | RP1L1 | c.5792A>G (p.Asp1931Gly) | |
8 | g.10608306T>G | CA370280258 | RP1L1 | c.5792A>C (p.Asp1931Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608306T= | CA1763378084 | RP1L1 | c.5792A= (p.Asp1931=) | |
8 | g.10608307C>A | CA4623533 | RP1L1 | c.5791G>T (p.Asp1931Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608307C= | CA1763378087 | RP1L1 | c.5791G= (p.Asp1931=) | |
8 | g.10608307C>G | CA370280259 | RP1L1 | c.5791G>C (p.Asp1931His) | |
8 | g.10608307C>T | CA4623534 | RP1L1 | c.5791G>A (p.Asp1931Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.10608308C>A | CA370280260 | RP1L1 | c.5790G>T (p.Glu1930Asp) | |
8 | g.10608308C= | CA1763378089 | RP1L1 | c.5790G= (p.Glu1930=) | |
8 | g.10608308C>G | CA370280261 | RP1L1 | c.5790G>C (p.Glu1930Asp) | |
8 | g.10608308C>T | CA4623535 | RP1L1 | c.5790G>A (p.Glu1930=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.10608309T>A | CA370280262 | RP1L1 | c.5789A>T (p.Glu1930Val) | |
8 | g.10608309T>C | CA370280264 | RP1L1 | c.5789A>G (p.Glu1930Gly) | |
8 | g.10608309T>G | CA370280263 | RP1L1 | c.5789A>C (p.Glu1930Ala) | |
8 | g.10608310C>A | CA370280265 | RP1L1 | c.5788G>T (p.Glu1930Ter) | dbSNP |
8 | g.10608310C= | CA1763378091 | RP1L1 | c.5788G= (p.Glu1930=) | |
8 | g.10608310C>G | CA370280266 | RP1L1 | c.5788G>C (p.Glu1930Gln) | |
8 | g.10608310C>T | CA370280267 | RP1L1 | c.5788G>A (p.Glu1930Lys) | gnomAD v4 |
8 | g.10608311C>A | CA459617140 | RP1L1 | c.5787G>T (p.Gly1929=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.10608311C= | CA1763378092 | RP1L1 | c.5787G= (p.Gly1929=) | |
8 | g.10608311C>G | CA459617141 | RP1L1 | c.5787G>C (p.Gly1929=) | |
8 | g.10608311C>T | CA459617142 | RP1L1 | c.5787G>A (p.Gly1929=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.10608312C>A | CA370280268 | RP1L1 | c.5786G>T (p.Gly1929Val) | |
8 | g.10608312C= | CA1763378094 | RP1L1 | c.5786G= (p.Gly1929=) | |
8 | g.10608312C>G | CA370280269 | RP1L1 | c.5786G>C (p.Gly1929Ala) | |
8 | g.10608312C>T | CA370280270 | RP1L1 | c.5786G>A (p.Gly1929Glu) | dbSNP |
8 | g.10608313C>A | CA4623536 | RP1L1 | c.5785G>T (p.Gly1929Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.10608313C= | CA1763378096 | RP1L1 | c.5785G= (p.Gly1929=) | |
8 | g.10608313C>G | CA370280271 | RP1L1 | c.5785G>C (p.Gly1929Arg) | |
8 | g.10608313C>T | CA370280272 | RP1L1 | c.5785G>A (p.Gly1929Arg) | gnomAD v4 |
8 | g.10608314T>A | CA370280273 | RP1L1 | c.5784A>T (p.Glu1928Asp) | |
8 | g.10608314T>C | CA459617144 | RP1L1 | c.5784A>G (p.Glu1928=) | |
8 | g.10608314T>G | CA370280274 | RP1L1 | c.5784A>C (p.Glu1928Asp) | gnomAD v4 |
8 | g.10608315T>A | CA370280277 | RP1L1 | c.5783A>T (p.Glu1928Val) | |
8 | g.10608315T>C | CA370280276 | RP1L1 | c.5783A>G (p.Glu1928Gly) | gnomAD v4 |
8 | g.10608315T>G | CA370280275 | RP1L1 | c.5783A>C (p.Glu1928Ala) | |
8 | g.10608316C>A | CA370280278 | RP1L1 | c.5782G>T (p.Glu1928Ter) | |
8 | g.10608316C= | CA1763378098 | RP1L1 | c.5782G= (p.Glu1928=) | |
8 | g.10608316C>G | CA370280279 | RP1L1 | c.5782G>C (p.Glu1928Gln) | |
8 | g.10608316C>T | CA370280280 | RP1L1 | c.5782G>A (p.Glu1928Lys) | dbSNP gnomAD v3 gnomAD v4 |