Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153866731G>A | CA519343688 | L1CAM | c.2349C>T (p.Pro783=) c.2334C>T (p.Pro778=) | ClinVar gnomAD v4 |
X | g.153866731G>C | CA519343689 | L1CAM | c.2349C>G (p.Pro783=) c.2334C>G (p.Pro778=) | |
X | g.153866731G>T | CA519343691 | L1CAM | c.2349C>A (p.Pro783=) c.2334C>A (p.Pro778=) | COSMIC |
X | g.153866732G>A | CA415120177 | L1CAM | c.2348C>T (p.Pro783Leu) c.2333C>T (p.Pro778Leu) | gnomAD v4 |
X | g.153866732G>C | CA415120180 | L1CAM | c.2348C>G (p.Pro783Arg) c.2333C>G (p.Pro778Arg) | |
X | g.153866732G>T | CA415120181 | L1CAM | c.2348C>A (p.Pro783His) c.2333C>A (p.Pro778His) | COSMIC |
X | g.153866733G>A | CA415120183 | L1CAM | c.2347C>T (p.Pro783Ser) c.2332C>T (p.Pro778Ser) | |
X | g.153866733G>C | CA415120188 | L1CAM | c.2347C>G (p.Pro783Ala) c.2332C>G (p.Pro778Ala) | |
X | g.153866733G>T | CA415120190 | L1CAM | c.2347C>A (p.Pro783Thr) c.2332C>A (p.Pro778Thr) | |
X | g.153866734C>A | CA519343695 | L1CAM | c.2346G>T (p.Val782=) c.2331G>T (p.Val777=) | |
X | g.153866734C>G | CA519343696 | L1CAM | c.2346G>C (p.Val782=) c.2331G>C (p.Val777=) | |
X | g.153866734C>T | CA519343697 | L1CAM | c.2346G>A (p.Val782=) c.2331G>A (p.Val777=) | |
X | g.153866735A>C | CA415120192 | L1CAM | c.2345T>G (p.Val782Gly) c.2330T>G (p.Val777Gly) | |
X | g.153866735A>G | CA415120193 | L1CAM | c.2345T>C (p.Val782Ala) c.2330T>C (p.Val777Ala) | |
X | g.153866735A>T | CA415120194 | L1CAM | c.2345T>A (p.Val782Glu) c.2330T>A (p.Val777Glu) | |
X | g.153866736C>A | CA415120195 | L1CAM | c.2344G>T (p.Val782Leu) c.2329G>T (p.Val777Leu) | |
X | g.153866736C= | CA2466505969 | L1CAM | c.2344G= (p.Val782=) c.2329G= (p.Val777=) | |
X | g.153866736C>G | CA10554188 | L1CAM | c.2344G>C (p.Val782Leu) c.2329G>C (p.Val777Leu) | ClinVar dbSNP ExAC gnomAD v4 |
X | g.153866736C>T | CA10554187 | L1CAM | c.2344G>A (p.Val782Met) c.2329G>A (p.Val777Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.153866737G>A | CA10554189 | L1CAM | c.2343C>T (p.Phe781=) c.2328C>T (p.Phe776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.153866737G>C | CA16608779 | L1CAM | c.2343C>G (p.Phe781Leu) c.2328C>G (p.Phe776Leu) | ClinVar dbSNP |
X | g.153866737G= | CA2466505972 | L1CAM | c.2343C= (p.Phe781=) c.2328C= (p.Phe776=) | |
X | g.153866737G>T | CA415120205 | L1CAM | c.2343C>A (p.Phe781Leu) c.2328C>A (p.Phe776Leu) | |
X | g.153866738A>C | CA415120210 | L1CAM | c.2342T>G (p.Phe781Cys) c.2327T>G (p.Phe776Cys) | |
X | g.153866738A>G | CA415120212 | L1CAM | c.2342T>C (p.Phe781Ser) c.2327T>C (p.Phe776Ser) | gnomAD v4 |
X | g.153866738A>T | CA415120213 | L1CAM | c.2342T>A (p.Phe781Tyr) c.2327T>A (p.Phe776Tyr) | |
X | g.153866739A>C | CA415120217 | L1CAM | c.2341T>G (p.Phe781Val) c.2326T>G (p.Phe776Val) | |
X | g.153866739A>G | CA415120221 | L1CAM | c.2341T>C (p.Phe781Leu) c.2326T>C (p.Phe776Leu) | |
X | g.153866739A>T | CA415120223 | L1CAM | c.2341T>A (p.Phe781Ile) c.2326T>A (p.Phe776Ile) | |
X | g.153866740G>A | CA519343704 | L1CAM | c.2340C>T (p.Thr780=) c.2325C>T (p.Thr775=) | ClinVar dbSNP |
X | g.153866740G>C | CA519343705 | L1CAM | c.2340C>G (p.Thr780=) c.2325C>G (p.Thr775=) | dbSNP |
X | g.153866740G= | CA2466505974 | L1CAM | c.2340C= (p.Thr780=) c.2325C= (p.Thr775=) | |
X | g.153866740G>T | CA519343706 | L1CAM | c.2340C>A (p.Thr780=) c.2325C>A (p.Thr775=) | |
X | g.153866741G>A | CA415120226 | L1CAM | c.2339C>T (p.Thr780Ile) c.2324C>T (p.Thr775Ile) | dbSNP gnomAD v2 gnomAD v4 |
X | g.153866741G>C | CA415120228 | L1CAM | c.2339C>G (p.Thr780Ser) c.2324C>G (p.Thr775Ser) | |
X | g.153866741G= | CA2466505975 | L1CAM | c.2339C= (p.Thr780=) c.2324C= (p.Thr775=) | |
X | g.153866741G>T | CA415120231 | L1CAM | c.2339C>A (p.Thr780Asn) c.2324C>A (p.Thr775Asn) | |
X | g.153866742T>A | CA415120233 | L1CAM | c.2338A>T (p.Thr780Ser) c.2323A>T (p.Thr775Ser) | |
X | g.153866742T>C | CA415120236 | L1CAM | c.2338A>G (p.Thr780Ala) c.2323A>G (p.Thr775Ala) | |
X | g.153866742T>G | CA415120238 | L1CAM | c.2338A>C (p.Thr780Pro) c.2323A>C (p.Thr775Pro) | |
X | g.153866743G>A | CA519343709 | L1CAM | c.2337C>T (p.Ser779=) c.2322C>T (p.Ser774=) | |
X | g.153866743G>C | CA519343710 | L1CAM | c.2337C>G (p.Ser779=) c.2322C>G (p.Ser774=) | |
X | g.153866743G>T | CA519343711 | L1CAM | c.2337C>A (p.Ser779=) c.2322C>A (p.Ser774=) | |
X | g.153866744G>A | CA415120242 | L1CAM | c.2336C>T (p.Ser779Phe) c.2321C>T (p.Ser774Phe) | dbSNP |
X | g.153866744G>C | CA415120241 | L1CAM | c.2336C>G (p.Ser779Cys) c.2321C>G (p.Ser774Cys) | |
X | g.153866744G>T | CA415120240 | L1CAM | c.2336C>A (p.Ser779Tyr) c.2321C>A (p.Ser774Tyr) | gnomAD v4 |
X | g.153866745A>C | CA415120244 | L1CAM | c.2335T>G (p.Ser779Ala) c.2320T>G (p.Ser774Ala) | |
X | g.153866745A>G | CA415120246 | L1CAM | c.2335T>C (p.Ser779Pro) c.2320T>C (p.Ser774Pro) | |
X | g.153866745A>T | CA415120248 | L1CAM | c.2335T>A (p.Ser779Thr) c.2320T>A (p.Ser774Thr) | |
X | g.153866746C>A | CA519343716 | L1CAM | c.2334G>T (p.Thr778=) c.2319G>T (p.Thr773=) |