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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| X | g.153866746C= | CA2466505977 | L1CAM | c.2334G= (p.Thr778=) c.2319G= (p.Thr773=) | |
| X | g.153866746C>G | CA519343715 | L1CAM | c.2334G>C (p.Thr778=) c.2319G>C (p.Thr773=) | |
| X | g.153866746C>T | CA10554190 | L1CAM | c.2334G>A (p.Thr778=) c.2319G>A (p.Thr773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153866747G>A | CA415120252 | L1CAM | c.2333C>T (p.Thr778Met) c.2318C>T (p.Thr773Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153866747G>C | CA415120255 | L1CAM | c.2333C>G (p.Thr778Arg) c.2318C>G (p.Thr773Arg) | |
| X | g.153866747G= | CA2466505979 | L1CAM | c.2333C= (p.Thr778=) c.2318C= (p.Thr773=) | |
| X | g.153866747G>T | CA415120257 | L1CAM | c.2333C>A (p.Thr778Lys) c.2318C>A (p.Thr773Lys) | |
| X | g.153866747dup | CA2842767137 | L1CAM | c.2333dup (p.Ser779ValfsTer7) c.2318dup (p.Ser774ValfsTer7) | |
| X | g.153866748T>A | CA415120259 | L1CAM | c.2332A>T (p.Thr778Ser) c.2317A>T (p.Thr773Ser) | |
| X | g.153866748T>C | CA415120261 | L1CAM | c.2332A>G (p.Thr778Ala) c.2317A>G (p.Thr773Ala) | |
| X | g.153866748T>G | CA415120262 | L1CAM | c.2332A>C (p.Thr778Pro) c.2317A>C (p.Thr773Pro) | |
| X | g.153866749G>A | CA519343718 | L1CAM | c.2331C>T (p.Asn777=) c.2316C>T (p.Asn772=) | |
| X | g.153866749G>C | CA415120264 | L1CAM | c.2331C>G (p.Asn777Lys) c.2316C>G (p.Asn772Lys) | |
| X | g.153866749G>T | CA415120266 | L1CAM | c.2331C>A (p.Asn777Lys) c.2316C>A (p.Asn772Lys) | |
| X | g.153866750T>A | CA415120268 | L1CAM | c.2330A>T (p.Asn777Ile) c.2315A>T (p.Asn772Ile) | |
| X | g.153866750T>C | CA415120272 | L1CAM | c.2330A>G (p.Asn777Ser) c.2315A>G (p.Asn772Ser) | |
| X | g.153866750T>G | CA415120271 | L1CAM | c.2330A>C (p.Asn777Thr) c.2315A>C (p.Asn772Thr) | |
| X | g.153866751T>A | CA415120274 | L1CAM | c.2329A>T (p.Asn777Tyr) c.2314A>T (p.Asn772Tyr) | |
| X | g.153866751T>C | CA415120278 | L1CAM | c.2329A>G (p.Asn777Asp) c.2314A>G (p.Asn772Asp) | |
| X | g.153866751T>G | CA415120276 | L1CAM | c.2329A>C (p.Asn777His) c.2314A>C (p.Asn772His) | ClinVar gnomAD v4 |
| X | g.153866752G>A | CA519343722 | L1CAM | c.2328C>T (p.Ser776=) c.2313C>T (p.Ser771=) | |
| X | g.153866752G>C | CA519343724 | L1CAM | c.2328C>G (p.Ser776=) c.2313C>G (p.Ser771=) | |
| X | g.153866752G>T | CA519343723 | L1CAM | c.2328C>A (p.Ser776=) c.2313C>A (p.Ser771=) | |
| X | g.153866753G>A | CA415120280 | L1CAM | c.2327C>T (p.Ser776Phe) c.2312C>T (p.Ser771Phe) | |
| X | g.153866753G>C | CA415120283 | L1CAM | c.2327C>G (p.Ser776Cys) c.2312C>G (p.Ser771Cys) | gnomAD v4 |
| X | g.153866753G>T | CA415120287 | L1CAM | c.2327C>A (p.Ser776Tyr) c.2312C>A (p.Ser771Tyr) | |
| X | g.153866754A>C | CA415120290 | L1CAM | c.2326T>G (p.Ser776Ala) c.2311T>G (p.Ser771Ala) | |
| X | g.153866754A>G | CA415120293 | L1CAM | c.2326T>C (p.Ser776Pro) c.2311T>C (p.Ser771Pro) | |
| X | g.153866754A>T | CA415120295 | L1CAM | c.2326T>A (p.Ser776Thr) c.2311T>A (p.Ser771Thr) | gnomAD v4 |
| X | g.153866755C>A | CA519343725 | L1CAM | c.2325G>T (p.Val775=) c.2310G>T (p.Val770=) | |
| X | g.153866755C>G | CA519343726 | L1CAM | c.2325G>C (p.Val775=) c.2310G>C (p.Val770=) | |
| X | g.153866755C>T | CA519343727 | L1CAM | c.2325G>A (p.Val775=) c.2310G>A (p.Val770=) | ClinVar |
| X | g.153866756A>C | CA415120297 | L1CAM | c.2324T>G (p.Val775Gly) c.2309T>G (p.Val770Gly) | |
| X | g.153866756A>G | CA415120300 | L1CAM | c.2324T>C (p.Val775Ala) c.2309T>C (p.Val770Ala) | |
| X | g.153866756A>T | CA415120301 | L1CAM | c.2324T>A (p.Val775Glu) c.2309T>A (p.Val770Glu) | |
| X | g.153866757C>A | CA415120307 | L1CAM | c.2323G>T (p.Val775Leu) c.2308G>T (p.Val770Leu) | |
| X | g.153866757C>G | CA415120305 | L1CAM | c.2323G>C (p.Val775Leu) c.2308G>C (p.Val770Leu) | |
| X | g.153866757C>T | CA415120304 | L1CAM | c.2323G>A (p.Val775Met) c.2308G>A (p.Val770Met) | |
| X | g.153866758C>A | CA519343728 | L1CAM | c.2322G>T (p.Val774=) c.2307G>T (p.Val769=) | |
| X | g.153866758C>G | CA519343729 | L1CAM | c.2322G>C (p.Val774=) c.2307G>C (p.Val769=) | |
| X | g.153866758C>T | CA519343730 | L1CAM | c.2322G>A (p.Val774=) c.2307G>A (p.Val769=) | |
| X | g.153866759A>C | CA415120309 | L1CAM | c.2321T>G (p.Val774Gly) c.2306T>G (p.Val769Gly) | |
| X | g.153866759A>G | CA415120311 | L1CAM | c.2321T>C (p.Val774Ala) c.2306T>C (p.Val769Ala) | |
| X | g.153866759A>T | CA415120314 | L1CAM | c.2321T>A (p.Val774Glu) c.2306T>A (p.Val769Glu) | |
| X | g.153866760C>A | CA415120317 | L1CAM | c.2320G>T (p.Val774Leu) c.2305G>T (p.Val769Leu) | |
| X | g.153866760C>G | CA415120318 | L1CAM | c.2320G>C (p.Val774Leu) c.2305G>C (p.Val769Leu) | |
| X | g.153866760C>T | CA415120321 | L1CAM | c.2320G>A (p.Val774Met) c.2305G>A (p.Val769Met) | |
| X | g.153866761C>A | CA519343733 | L1CAM | c.2319G>T (p.Leu773=) c.2304G>T (p.Leu768=) | |
| X | g.153866761C>G | CA519343732 | L1CAM | c.2319G>C (p.Leu773=) c.2304G>C (p.Leu768=) | |
| X | g.153866761C>T | CA519343731 | L1CAM | c.2319G>A (p.Leu773=) c.2304G>A (p.Leu768=) | |
| X | g.153866762A>C | CA415120323 | L1CAM | c.2318T>G (p.Leu773Arg) c.2303T>G (p.Leu768Arg) | |
| X | g.153866762A>G | CA415120325 | L1CAM | c.2318T>C (p.Leu773Pro) c.2303T>C (p.Leu768Pro) | |
| X | g.153866762A>T | CA415120326 | L1CAM | c.2318T>A (p.Leu773Gln) c.2303T>A (p.Leu768Gln) | |
| X | g.153866763G>A | CA519343734 | L1CAM | c.2317C>T (p.Leu773=) c.2302C>T (p.Leu768=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153866763G>C | CA415120327 | L1CAM | c.2317C>G (p.Leu773Val) c.2302C>G (p.Leu768Val) | |
| X | g.153866763G= | CA2466505981 | L1CAM | c.2317C= (p.Leu773=) c.2302C= (p.Leu768=) | |
| X | g.153866763G>T | CA415120329 | L1CAM | c.2317C>A (p.Leu773Met) c.2302C>A (p.Leu768Met) | |
| X | g.153866764G>A | CA519343735 | L1CAM | c.2316C>T (p.Phe772=) c.2301C>T (p.Phe767=) | |
| X | g.153866764G>C | CA415120335 | L1CAM | c.2316C>G (p.Phe772Leu) c.2301C>G (p.Phe767Leu) | |
| X | g.153866764G>T | CA415120332 | L1CAM | c.2316C>A (p.Phe772Leu) c.2301C>A (p.Phe767Leu) | |
| X | g.153866765A>C | CA415120337 | L1CAM | c.2315T>G (p.Phe772Cys) c.2300T>G (p.Phe767Cys) | |
| X | g.153866765A>G | CA415120339 | L1CAM | c.2315T>C (p.Phe772Ser) c.2300T>C (p.Phe767Ser) | |
| X | g.153866765A>T | CA415120342 | L1CAM | c.2315T>A (p.Phe772Tyr) c.2300T>A (p.Phe767Tyr) | |
| X | g.153866766A>C | CA415120343 | L1CAM | c.2314T>G (p.Phe772Val) c.2299T>G (p.Phe767Val) | |
| X | g.153866766A>G | CA415120345 | L1CAM | c.2314T>C (p.Phe772Leu) c.2299T>C (p.Phe767Leu) | |
| X | g.153866766A>T | CA415120347 | L1CAM | c.2314T>A (p.Phe772Ile) c.2299T>A (p.Phe767Ile) | |
| X | g.153866767G>A | CA519343736 | L1CAM | c.2313C>T (p.Pro771=) c.2298C>T (p.Pro766=) | ClinVar |
| X | g.153866767G>C | CA519343737 | L1CAM | c.2313C>G (p.Pro771=) c.2298C>G (p.Pro766=) | |
| X | g.153866767G= | CA2466505982 | L1CAM | c.2313C= (p.Pro771=) c.2298C= (p.Pro766=) | |
| X | g.153866767G>T | CA519343738 | L1CAM | c.2313C>A (p.Pro771=) c.2298C>A (p.Pro766=) | dbSNP |
| X | g.153866770del | CA2695238572 | L1CAM | c.2313del (p.Phe772SerfsTer?) c.2298del (p.Phe767SerfsTer?) | |
| X | g.153866768G>A | CA415120351 | L1CAM | c.2312C>T (p.Pro771Leu) c.2297C>T (p.Pro766Leu) | |
| X | g.153866768G>C | CA415120353 | L1CAM | c.2312C>G (p.Pro771Arg) c.2297C>G (p.Pro766Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153866768G= | CA2466505984 | L1CAM | c.2312C= (p.Pro771=) c.2297C= (p.Pro766=) | |
| X | g.153866768G>T | CA337261015 | L1CAM | c.2312C>A (p.Pro771His) c.2297C>A (p.Pro766His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153866769G>A | CA415120360 | L1CAM | c.2311C>T (p.Pro771Ser) c.2296C>T (p.Pro766Ser) | ClinVar |
| X | g.153866769G>C | CA415120362 | L1CAM | c.2311C>G (p.Pro771Ala) c.2296C>G (p.Pro766Ala) | |
| X | g.153866769G>T | CA415120364 | L1CAM | c.2311C>A (p.Pro771Thr) c.2296C>A (p.Pro766Thr) | |
| X | g.153866770G>A | CA519343739 | L1CAM | c.2310C>T (p.Asp770=) c.2295C>T (p.Asp765=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153866770G>C | CA415120369 | L1CAM | c.2310C>G (p.Asp770Glu) c.2295C>G (p.Asp765Glu) | |
| X | g.153866770G= | CA2466505986 | L1CAM | c.2310C= (p.Asp770=) c.2295C= (p.Asp765=) | |
| X | g.153866770G>T | CA415120366 | L1CAM | c.2310C>A (p.Asp770Glu) c.2295C>A (p.Asp765Glu) | gnomAD v4 |
| X | g.153866771T>A | CA415120372 | L1CAM | c.2309A>T (p.Asp770Val) c.2294A>T (p.Asp765Val) | |
| X | g.153866771T>C | CA415120374 | L1CAM | c.2309A>G (p.Asp770Gly) c.2294A>G (p.Asp765Gly) | |
| X | g.153866771T>G | CA415120375 | L1CAM | c.2309A>C (p.Asp770Ala) c.2294A>C (p.Asp765Ala) | |
| X | g.153866772C>A | CA415120378 | L1CAM | c.2308G>T (p.Asp770Tyr) c.2293G>T (p.Asp765Tyr) c.570G>T | |
| X | g.153866772C= | CA2466505987 | L1CAM | c.2308G= (p.Asp770=) c.2293G= (p.Asp765=) c.570G= | |
| X | g.153866772C>G | CA415120380 | L1CAM | c.2308G>C (p.Asp770His) c.2293G>C (p.Asp765His) c.570G>C | |
| X | g.153866772C>T | CA10604529 | L1CAM | c.2308G>A (p.Asp770Asn) c.2293G>A (p.Asp765Asn) c.570G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153866773G>A | CA146089 | L1CAM | c.2307C>T (p.Ser769=) c.2292C>T (p.Ser764=) c.569C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153866773G>C | CA415120386 | L1CAM | c.2307C>G (p.Ser769Arg) c.2292C>G (p.Ser764Arg) c.569C>G | |
| X | g.153866773G= | CA2466505991 | L1CAM | c.2307C= (p.Ser769=) c.2292C= (p.Ser764=) c.569C= | |
| X | g.153866773G>T | CA415120388 | L1CAM | c.2307C>A (p.Ser769Arg) c.2292C>A (p.Ser764Arg) c.569C>A | |
| X | g.153866774C>A | CA415120390 | L1CAM | c.2306G>T (p.Ser769Ile) c.2291G>T (p.Ser764Ile) c.568G>T | |
| X | g.153866774C>G | CA415120392 | L1CAM | c.2306G>C (p.Ser769Thr) c.2291G>C (p.Ser764Thr) c.568G>C | gnomAD v4 |
| X | g.153866774C>T | CA415120395 | L1CAM | c.2306G>A (p.Ser769Asn) c.2291G>A (p.Ser764Asn) c.568G>A | |
| X | g.153866775T>A | CA415120398 | L1CAM | c.2305A>T (p.Ser769Cys) c.2290A>T (p.Ser764Cys) c.567A>T | |
| X | g.153866775T>C | CA415120401 | L1CAM | c.2305A>G (p.Ser769Gly) c.2290A>G (p.Ser764Gly) c.567A>G | |
| X | g.153866775T>G | CA415120400 | L1CAM | c.2305A>C (p.Ser769Arg) c.2290A>C (p.Ser764Arg) c.567A>C | |
| X | g.153866775dup | CA2842767138 | L1CAM | c.2305dup (p.Ser769LysfsTer17) c.2290dup (p.Ser764LysfsTer17) c.567dup | |
| X | g.153866776G>A | CA519343740 | L1CAM | c.2304C>T (p.Val768=) c.2289C>T (p.Val763=) c.566C>T | gnomAD v4 |
| X | g.153866776G>C | CA519343741 | L1CAM | c.2304C>G (p.Val768=) c.2289C>G (p.Val763=) c.566C>G | |
| X | g.153866776G>T | CA519343742 | L1CAM | c.2304C>A (p.Val768=) c.2289C>A (p.Val763=) c.566C>A | |
| X | g.153866777A>C | CA415120403 | L1CAM | c.2303T>G (p.Val768Gly) c.2288T>G (p.Val763Gly) c.565T>G | |
| X | g.153866777A>G | CA415120406 | L1CAM | c.2303T>C (p.Val768Ala) c.2288T>C (p.Val763Ala) c.565T>C | |
| X | g.153866777A>T | CA415120407 | L1CAM | c.2303T>A (p.Val768Asp) c.2288T>A (p.Val763Asp) c.565T>A | |
| X | g.153866778C>A | CA415120409 | L1CAM | c.2302G>T (p.Val768Phe) c.2287G>T (p.Val763Phe) c.564G>T | |
| X | g.153866778C= | CA2466505994 | L1CAM | c.2302G= (p.Val768=) c.2287G= (p.Val763=) c.564G= | |
| X | g.153866778C>G | CA415120411 | L1CAM | c.2302G>C (p.Val768Leu) c.2287G>C (p.Val763Leu) c.564G>C | gnomAD v4 |
| X | g.153866778C>T | CA208427 | L1CAM | c.2302G>A (p.Val768Ile) c.2287G>A (p.Val763Ile) c.564G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153866779A>C | CA415120414 | L1CAM | c.2301T>G (p.Ile767Met) c.2286T>G (p.Ile762Met) c.563T>G | |
| X | g.153866779A>G | CA519343743 | L1CAM | c.2301T>C (p.Ile767=) c.2286T>C (p.Ile762=) c.563T>C | |
| X | g.153866779A>T | CA519343744 | L1CAM | c.2301T>A (p.Ile767=) c.2286T>A (p.Ile762=) c.563T>A | |
| X | g.153866780A= | CA2466505997 | L1CAM | c.2300T= (p.Ile767=) c.2285T= (p.Ile762=) c.562T= | |
| X | g.153866780A>C | CA415120417 | L1CAM | c.2300T>G (p.Ile767Ser) c.2285T>G (p.Ile762Ser) c.562T>G | |
| X | g.153866780A>G | CA415120419 | L1CAM | c.2300T>C (p.Ile767Thr) c.2285T>C (p.Ile762Thr) c.562T>C | ClinVar dbSNP |
| X | g.153866780A>T | CA415120422 | L1CAM | c.2300T>A (p.Ile767Asn) c.2285T>A (p.Ile762Asn) c.562T>A | |
| X | g.153866781T>A | CA10554191 | L1CAM | c.2299A>T (p.Ile767Phe) c.2284A>T (p.Ile762Phe) c.561A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153866781T>C | CA415120426 | L1CAM | c.2299A>G (p.Ile767Val) c.2284A>G (p.Ile762Val) c.561A>G | |
| X | g.153866781T>G | CA415120428 | L1CAM | c.2299A>C (p.Ile767Leu) c.2284A>C (p.Ile762Leu) c.561A>C | |
| X | g.153866781T= | CA2466505999 | L1CAM | c.2299A= (p.Ile767=) c.2284A= (p.Ile762=) c.561A= | |
| X | g.153866782C>A | CA415120433 | L1CAM | c.2298G>T (p.Gln766His) c.2283G>T (p.Gln761His) c.560G>T | |
| X | g.153866782C>G | CA415120431 | L1CAM | c.2298G>C (p.Gln766His) c.2283G>C (p.Gln761His) c.560G>C | |
| X | g.153866782C>T | CA519343745 | L1CAM | c.2298G>A (p.Gln766=) c.2283G>A (p.Gln761=) c.560G>A | |
| X | g.153866783T>A | CA415120436 | L1CAM | c.2297A>T (p.Gln766Leu) c.2282A>T (p.Gln761Leu) c.559A>T | |
| X | g.153866783T>C | CA415120437 | L1CAM | c.2297A>G (p.Gln766Arg) c.2282A>G (p.Gln761Arg) c.559A>G | |
| X | g.153866783T>G | CA415120439 | L1CAM | c.2297A>C (p.Gln766Pro) c.2282A>C (p.Gln761Pro) c.559A>C | |
| X | g.153866784G>A | CA415120441 | L1CAM | c.2296C>T (p.Gln766Ter) c.2281C>T (p.Gln761Ter) c.558C>T | ClinVar |
| X | g.153866784G>C | CA415120444 | L1CAM | c.2296C>G (p.Gln766Glu) c.2281C>G (p.Gln761Glu) c.558C>G | |
| X | g.153866784G>T | CA415120445 | L1CAM | c.2296C>A (p.Gln766Lys) c.2281C>A (p.Gln761Lys) c.558C>A | |
| X | g.153866785C>A | CA415120449 | L1CAM | c.2295G>T (p.Glu765Asp) c.2280G>T (p.Glu760Asp) c.557G>T | gnomAD v4 |
| X | g.153866785C= | CA2466506001 | L1CAM | c.2295G= (p.Glu765=) c.2280G= (p.Glu760=) c.557G= | |
| X | g.153866785C>G | CA415120451 | L1CAM | c.2295G>C (p.Glu765Asp) c.2280G>C (p.Glu760Asp) c.557G>C | |
| X | g.153866785C>T | CA10554192 | L1CAM | c.2295G>A (p.Glu765=) c.2280G>A (p.Glu760=) c.557G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153866786T>A | CA415120453 | L1CAM | c.2294A>T (p.Glu765Val) c.2279A>T (p.Glu760Val) c.556A>T | |
| X | g.153866786T>C | CA415120455 | L1CAM | c.2294A>G (p.Glu765Gly) c.2279A>G (p.Glu760Gly) c.556A>G | |
| X | g.153866786T>G | CA415120456 | L1CAM | c.2294A>C (p.Glu765Ala) c.2279A>C (p.Glu760Ala) c.556A>C | |
| X | g.153866787C>A | CA415120461 | L1CAM | c.2293G>T (p.Glu765Ter) c.2278G>T (p.Glu760Ter) c.555G>T | |
| X | g.153866787C>G | CA415120458 | L1CAM | c.2293G>C (p.Glu765Gln) c.2278G>C (p.Glu760Gln) c.555G>C | |
| X | g.153866787C>T | CA415120460 | L1CAM | c.2293G>A (p.Glu765Lys) c.2278G>A (p.Glu760Lys) c.555G>A | |
| X | g.153866788C>A | CA415120462 | L1CAM | c.2292G>T (p.Gln764His) c.2277G>T (p.Gln759His) c.554G>T | |
| X | g.153866788C>G | CA415120464 | L1CAM | c.2292G>C (p.Gln764His) c.2277G>C (p.Gln759His) c.554G>C | |
| X | g.153866788C>T | CA519343746 | L1CAM | c.2292G>A (p.Gln764=) c.2277G>A (p.Gln759=) c.554G>A | |
| X | g.153866789T>A | CA415120467 | L1CAM | c.2291A>T (p.Gln764Leu) c.2276A>T (p.Gln759Leu) c.553A>T | |
| X | g.153866789T>C | CA415120469 | L1CAM | c.2291A>G (p.Gln764Arg) c.2276A>G (p.Gln759Arg) c.553A>G | ClinVar |
| X | g.153866789T>G | CA415120471 | L1CAM | c.2291A>C (p.Gln764Pro) c.2276A>C (p.Gln759Pro) c.553A>C | |
| X | g.153866790G>A | CA415120473 | L1CAM | c.2290C>T (p.Gln764Ter) c.2275C>T (p.Gln759Ter) c.552C>T | COSMIC |
| X | g.153866790G>C | CA415120474 | L1CAM | c.2290C>G (p.Gln764Glu) c.2275C>G (p.Gln759Glu) c.552C>G | |
| X | g.153866790G= | CA2466506003 | L1CAM | c.2290C= (p.Gln764=) c.2275C= (p.Gln759=) c.552C= | |
| X | g.153866790G>T | CA337261082 | L1CAM | c.2290C>A (p.Gln764Lys) c.2275C>A (p.Gln759Lys) c.552C>A | dbSNP gnomAD v4 |
| X | g.153866791C>A | CA415120478 | L1CAM | c.2289G>T (p.Trp763Cys) c.2274G>T (p.Trp758Cys) c.551G>T | |
| X | g.153866791C= | CA2466506005 | L1CAM | c.2289G= (p.Trp763=) c.2274G= (p.Trp758=) c.551G= | |
| X | g.153866791C>G | CA415120481 | L1CAM | c.2289G>C (p.Trp763Cys) c.2274G>C (p.Trp758Cys) c.551G>C | |
| X | g.153866791C>T | CA415120482 | L1CAM | c.2289G>A (p.Trp763Ter) c.2274G>A (p.Trp758Ter) c.551G>A | dbSNP gnomAD v2 |
| X | g.153866792C>A | CA415120494 | L1CAM | c.2288G>T (p.Trp763Leu) c.2273G>T (p.Trp758Leu) c.550G>T | |
| X | g.153866792C>G | CA415120488 | L1CAM | c.2288G>C (p.Trp763Ser) c.2273G>C (p.Trp758Ser) c.550G>C | |
| X | g.153866792C>T | CA415120485 | L1CAM | c.2288G>A (p.Trp763Ter) c.2273G>A (p.Trp758Ter) c.550G>A | |
| X | g.153866793A>C | CA415120496 | L1CAM | c.2287T>G (p.Trp763Gly) c.2272T>G (p.Trp758Gly) c.549T>G | |
| X | g.153866793A>G | CA415120497 | L1CAM | c.2287T>C (p.Trp763Arg) c.2272T>C (p.Trp758Arg) c.549T>C | |
| X | g.153866793A>T | CA415120500 | L1CAM | c.2287T>A (p.Trp763Arg) c.2272T>A (p.Trp758Arg) c.549T>A | |
| X | g.153866794G>A | CA519343747 | L1CAM | c.2286C>T (p.Pro762=) c.2271C>T (p.Pro757=) c.548C>T | |
| X | g.153866794G>C | CA519343748 | L1CAM | c.2286C>G (p.Pro762=) c.2271C>G (p.Pro757=) c.548C>G | |
| X | g.153866794G>T | CA519343749 | L1CAM | c.2286C>A (p.Pro762=) c.2271C>A (p.Pro757=) c.548C>A | |
| X | g.153866796del | CA2824280629 | L1CAM | c.2286del (p.Trp763GlyfsTer?) c.2271del (p.Trp758GlyfsTer?) c.548del | |
| X | g.153866795G>A | CA415120502 | L1CAM | c.2285C>T (p.Pro762Leu) c.2270C>T (p.Pro757Leu) c.547C>T | |
| X | g.153866795G>C | CA415120505 | L1CAM | c.2285C>G (p.Pro762Arg) c.2270C>G (p.Pro757Arg) c.547C>G | |
| X | g.153866795G= | CA2466506007 | L1CAM | c.2285C= (p.Pro762=) c.2270C= (p.Pro757=) c.547C= | |
| X | g.153866795G>T | CA415120506 | L1CAM | c.2285C>A (p.Pro762His) c.2270C>A (p.Pro757His) c.547C>A | dbSNP gnomAD v2 COSMIC |
| X | g.153866796G>A | CA415120508 | L1CAM | c.2284C>T (p.Pro762Ser) c.2269C>T (p.Pro757Ser) c.546C>T | |
| X | g.153866796G>C | CA415120509 | L1CAM | c.2284C>G (p.Pro762Ala) c.2269C>G (p.Pro757Ala) c.546C>G | |
| X | g.153866796G>T | CA415120512 | L1CAM | c.2284C>A (p.Pro762Thr) c.2269C>A (p.Pro757Thr) c.546C>A | COSMIC |
| X | g.153866797C>A | CA519343752 | L1CAM | c.2283G>T (p.Gly761=) c.2268G>T (p.Gly756=) c.545G>T | |
| X | g.153866797C= | CA2466506009 | L1CAM | c.2283G= (p.Gly761=) c.2268G= (p.Gly756=) c.545G= | |
| X | g.153866797C>G | CA519343751 | L1CAM | c.2283G>C (p.Gly761=) c.2268G>C (p.Gly756=) c.545G>C | |
| X | g.153866797C>T | CA519343750 | L1CAM | c.2283G>A (p.Gly761=) c.2268G>A (p.Gly756=) c.545G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153866798C>A | CA415120515 | L1CAM | c.2282G>T (p.Gly761Val) c.2267G>T (p.Gly756Val) c.544G>T | |
| X | g.153866798C= | CA2466506012 | L1CAM | c.2282G= (p.Gly761=) c.2267G= (p.Gly756=) c.544G= | |
| X | g.153866798C>G | CA415120518 | L1CAM | c.2282G>C (p.Gly761Ala) c.2267G>C (p.Gly756Ala) c.544G>C | |
| X | g.153866798C>T | CA10554193 | L1CAM | c.2282G>A (p.Gly761Glu) c.2267G>A (p.Gly756Glu) c.544G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153866799C>A | CA415120522 | L1CAM | c.2281G>T (p.Gly761Trp) c.2266G>T (p.Gly756Trp) c.543G>T | |
| X | g.153866799C= | CA2466506017 | L1CAM | c.2281G= (p.Gly761=) c.2266G= (p.Gly756=) c.543G= | |
| X | g.153866799C>G | CA415120530 | L1CAM | c.2281G>C (p.Gly761Arg) c.2266G>C (p.Gly756Arg) c.543G>C | |
| X | g.153866799C>T | CA337261086 | L1CAM | c.2281G>A (p.Gly761Arg) c.2266G>A (p.Gly756Arg) c.543G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153866800del | CA2824280630 | L1CAM | c.2280del (p.Trp763GlyfsTer?) c.2265del (p.Trp758GlyfsTer?) c.542del | |
| X | g.153866800T>A | CA519343753 | L1CAM | c.2280A>T (p.Arg760=) c.2265A>T (p.Arg755=) c.542A>T | dbSNP |
| X | g.153866800T>C | CA519343754 | L1CAM | c.2280A>G (p.Arg760=) c.2265A>G (p.Arg755=) c.542A>G | ClinVar gnomAD v4 |
| X | g.153866800T>G | CA519343755 | L1CAM | c.2280A>C (p.Arg760=) c.2265A>C (p.Arg755=) c.542A>C | |
| X | g.153866801del | CA2842767139 | L1CAM | c.2279del (p.Arg760GlnfsTer?) c.2264del (p.Arg755GlnfsTer?) c.541del | |
| X | g.153866801C>A | CA415120531 | L1CAM | c.2279G>T (p.Arg760Leu) c.2264G>T (p.Arg755Leu) c.541G>T | |
| X | g.153866801C= | CA2466506019 | L1CAM | c.2279G= (p.Arg760=) c.2264G= (p.Arg755=) c.541G= | |
| X | g.153866801C>G | CA415120532 | L1CAM | c.2279G>C (p.Arg760Pro) c.2264G>C (p.Arg755Pro) c.541G>C | |
| X | g.153866801C>T | CA10554194 | L1CAM | c.2279G>A (p.Arg760Gln) c.2264G>A (p.Arg755Gln) c.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153866802G>A | CA207441 | L1CAM | c.2278C>T (p.Arg760Ter) c.2263C>T (p.Arg755Ter) c.540C>T | ClinVar dbSNP |
| X | g.153866802G>C | CA415120542 | L1CAM | c.2278C>G (p.Arg760Gly) c.2263C>G (p.Arg755Gly) c.540C>G | |
| X | g.153866802G= | CA2466506025 | L1CAM | c.2278C= (p.Arg760=) c.2263C= (p.Arg755=) c.540C= | |
| X | g.153866802G>T | CA519343756 | L1CAM | c.2278C>A (p.Arg760=) c.2263C>A (p.Arg755=) c.540C>A | |
| X | g.153866803T>A | CA519343757 | L1CAM | c.2277A>T (p.Thr759=) c.2262A>T (p.Thr754=) c.539A>T | |
| X | g.153866803T>C | CA519343758 | L1CAM | c.2277A>G (p.Thr759=) c.2262A>G (p.Thr754=) c.539A>G | |
| X | g.153866803T>G | CA519343759 | L1CAM | c.2277A>C (p.Thr759=) c.2262A>C (p.Thr754=) c.539A>C | |
| X | g.153866804G>A | CA415120544 | L1CAM | c.2276C>T (p.Thr759Ile) c.2261C>T (p.Thr754Ile) c.538C>T | |
| X | g.153866804G>C | CA415120547 | L1CAM | c.2276C>G (p.Thr759Arg) c.2261C>G (p.Thr754Arg) c.538C>G | |
| X | g.153866804G>T | CA415120549 | L1CAM | c.2276C>A (p.Thr759Lys) c.2261C>A (p.Thr754Lys) c.538C>A | |
| X | g.153866804_153866805insCA | CA2824280631 | L1CAM | c.2275_2276insTG (p.Thr759MetfsTer?) c.2260_2261insTG (p.Thr754MetfsTer?) c.537_538insTG | |
| X | g.153866805T>A | CA415120552 | L1CAM | c.2275A>T (p.Thr759Ser) c.2260A>T (p.Thr754Ser) c.537A>T | |
| X | g.153866805T>C | CA415120554 | L1CAM | c.2275A>G (p.Thr759Ala) c.2260A>G (p.Thr754Ala) c.537A>G | |
| X | g.153866805T>G | CA415120557 | L1CAM | c.2275A>C (p.Thr759Pro) c.2260A>C (p.Thr754Pro) c.537A>C | |
| X | g.153866806C>A | CA519343760 | L1CAM | c.2274G>T (p.Gly758=) c.2259G>T (p.Gly753=) c.536G>T | |
| X | g.153866806C= | CA2466506030 | L1CAM | c.2274G= (p.Gly758=) c.2259G= (p.Gly753=) c.536G= | |
| X | g.153866806C>G | CA519343761 | L1CAM | c.2274G>C (p.Gly758=) c.2259G>C (p.Gly753=) c.536G>C | ClinVar dbSNP gnomAD v4 |
| X | g.153866806C>T | CA10554195 | L1CAM | c.2274G>A (p.Gly758=) c.2259G>A (p.Gly753=) c.536G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153866807C>A | CA415120566 | L1CAM | c.2273G>T (p.Gly758Val) c.2258G>T (p.Gly753Val) c.535G>T | |
| X | g.153866807C>G | CA415120561 | L1CAM | c.2273G>C (p.Gly758Ala) c.2258G>C (p.Gly753Ala) c.535G>C | |
| X | g.153866807C>T | CA415120563 | L1CAM | c.2273G>A (p.Gly758Glu) c.2258G>A (p.Gly753Glu) c.535G>A | COSMIC |
| X | g.153866808C>A | CA415120569 | L1CAM | c.2272G>T (p.Gly758Trp) c.2257G>T (p.Gly753Trp) c.534G>T | |
| X | g.153866808C>G | CA415120570 | L1CAM | c.2272G>C (p.Gly758Arg) c.2257G>C (p.Gly753Arg) c.534G>C | |
| X | g.153866808C>T | CA415120571 | L1CAM | c.2272G>A (p.Gly758Arg) c.2257G>A (p.Gly753Arg) c.534G>A | |
| X | g.153866809C>A | CA415120574 | L1CAM | c.2271G>T (p.Gln757His) c.2256G>T (p.Gln752His) c.533G>T | |
| X | g.153866809C>G | CA415120575 | L1CAM | c.2271G>C (p.Gln757His) c.2256G>C (p.Gln752His) c.533G>C | |
| X | g.153866809C>T | CA519343762 | L1CAM | c.2271G>A (p.Gln757=) c.2256G>A (p.Gln752=) c.533G>A | gnomAD v4 |
| X | g.153866810T>A | CA415120578 | L1CAM | c.2270A>T (p.Gln757Leu) c.2255A>T (p.Gln752Leu) c.532A>T | |
| X | g.153866810T>C | CA415120581 | L1CAM | c.2270A>G (p.Gln757Arg) c.2255A>G (p.Gln752Arg) c.532A>G | dbSNP |
| X | g.153866810T>G | CA415120583 | L1CAM | c.2270A>C (p.Gln757Pro) c.2255A>C (p.Gln752Pro) c.532A>C | |
| X | g.153866810T= | CA2466506035 | L1CAM | c.2270A= (p.Gln757=) c.2255A= (p.Gln752=) c.532A= | |
| X | g.153866811G>A | CA415120585 | L1CAM | c.2269C>T (p.Gln757Ter) c.2254C>T (p.Gln752Ter) c.531C>T | ClinVar |
| X | g.153866811G>C | CA415120587 | L1CAM | c.2269C>G (p.Gln757Glu) c.2254C>G (p.Gln752Glu) c.531C>G | |
| X | g.153866811G>T | CA415120590 | L1CAM | c.2269C>A (p.Gln757Lys) c.2254C>A (p.Gln752Lys) c.531C>A | |
| X | g.153866812A= | CA2466506038 | L1CAM | c.2268T= (p.Pro756=) c.2253T= (p.Pro751=) c.530T= | |
| X | g.153866812A>C | CA519343763 | L1CAM | c.2268T>G (p.Pro756=) c.2253T>G (p.Pro751=) c.530T>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153866812A>G | CA519343764 | L1CAM | c.2268T>C (p.Pro756=) c.2253T>C (p.Pro751=) c.530T>C | |
| X | g.153866812A>T | CA519343765 | L1CAM | c.2268T>A (p.Pro756=) c.2253T>A (p.Pro751=) c.530T>A | |
| X | g.153866813G>A | CA415120592 | L1CAM | c.2267C>T (p.Pro756Leu) c.2252C>T (p.Pro751Leu) c.529C>T | |
| X | g.153866813G>C | CA415120595 | L1CAM | c.2267C>G (p.Pro756Arg) c.2252C>G (p.Pro751Arg) c.529C>G | |
| X | g.153866813G= | CA2466506040 | L1CAM | c.2267C= (p.Pro756=) c.2252C= (p.Pro751=) c.529C= | |
| X | g.153866813G>T | CA415120593 | L1CAM | c.2267C>A (p.Pro756His) c.2252C>A (p.Pro751His) c.529C>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153866815dup | CA2838766212 | L1CAM | c.2267dup (p.Gln757SerfsTer29) c.2252dup (p.Gln752SerfsTer29) c.529dup | |
| X | g.153866815del | CA2695238573 | L1CAM | c.2267del (p.Pro756LeufsTer?) c.2252del (p.Pro751LeufsTer?) c.529del | |
| X | g.153866814G>A | CA415120597 | L1CAM | c.2266C>T (p.Pro756Ser) c.2251C>T (p.Pro751Ser) c.528C>T | |
| X | g.153866814G>C | CA415120598 | L1CAM | c.2266C>G (p.Pro756Ala) c.2251C>G (p.Pro751Ala) c.528C>G | |
| X | g.153866814G>T | CA415120600 | L1CAM | c.2266C>A (p.Pro756Thr) c.2251C>A (p.Pro751Thr) c.528C>A | |
| X | g.153866815G>A | CA337261118 | L1CAM | c.2265C>T (p.Arg755=) c.2250C>T (p.Arg750=) c.527C>T | dbSNP gnomAD v4 |
| X | g.153866815G>C | CA519343767 | L1CAM | c.2265C>G (p.Arg755=) c.2250C>G (p.Arg750=) c.527C>G | |
| X | g.153866815G= | CA2466506045 | L1CAM | c.2265C= (p.Arg755=) c.2250C= (p.Arg750=) c.527C= | |
| X | g.153866815G>T | CA519343766 | L1CAM | c.2265C>A (p.Arg755=) c.2250C>A (p.Arg750=) c.527C>A | |
| X | g.153866816C>A | CA415120603 | L1CAM | c.2264G>T (p.Arg755Leu) c.2249G>T (p.Arg750Leu) c.526G>T | |
| X | g.153866816C= | CA2466506049 | L1CAM | c.2264G= (p.Arg755=) c.2249G= (p.Arg750=) c.526G= | |
| X | g.153866816C>G | CA415120607 | L1CAM | c.2264G>C (p.Arg755Pro) c.2249G>C (p.Arg750Pro) c.526G>C | |
| X | g.153866816C>T | CA10554196 | L1CAM | c.2264G>A (p.Arg755His) c.2249G>A (p.Arg750His) c.526G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153866817G>A | CA337261134 | L1CAM | c.2263C>T (p.Arg755Cys) c.2248C>T (p.Arg750Cys) c.525C>T | dbSNP gnomAD v4 COSMIC |
| X | g.153866817G>C | CA415120613 | L1CAM | c.2263C>G (p.Arg755Gly) c.2248C>G (p.Arg750Gly) c.525C>G | |
| X | g.153866817G= | CA2466506054 | L1CAM | c.2263C= (p.Arg755=) c.2248C= (p.Arg750=) c.525C= | |
| X | g.153866817G>T | CA415120615 | L1CAM | c.2263C>A (p.Arg755Ser) c.2248C>A (p.Arg750Ser) c.525C>A | |
| X | g.153866819_153866824dup | CA2466506052 | L1CAM | c.2258_2263dup (p.Trp754_Arg755insGlnTrp) c.2243_2248dup (p.Trp749_Arg750insGlnTrp) c.520_525dup | ClinVar dbSNP |
| X | g.153866818C>A | CA415120618 | L1CAM | c.2262G>T (p.Trp754Cys) c.2247G>T (p.Trp749Cys) c.524G>T | |
| X | g.153866818C>G | CA415120621 | L1CAM | c.2262G>C (p.Trp754Cys) c.2247G>C (p.Trp749Cys) c.524G>C | |
| X | g.153866818C>T | CA415120630 | L1CAM | c.2262G>A (p.Trp754Ter) c.2247G>A (p.Trp749Ter) c.524G>A | |
| X | g.153866819C>A | CA415120633 | L1CAM | c.2261G>T (p.Trp754Leu) c.2246G>T (p.Trp749Leu) c.523G>T | |
| X | g.153866819C>G | CA415120639 | L1CAM | c.2261G>C (p.Trp754Ser) c.2246G>C (p.Trp749Ser) c.523G>C | |
| X | g.153866819C>T | CA415120636 | L1CAM | c.2261G>A (p.Trp754Ter) c.2246G>A (p.Trp749Ter) c.523G>A | |
| X | g.153866820A>C | CA415120642 | L1CAM | c.2260T>G (p.Trp754Gly) c.2245T>G (p.Trp749Gly) c.522T>G | |
| X | g.153866820A>G | CA415120643 | L1CAM | c.2260T>C (p.Trp754Arg) c.2245T>C (p.Trp749Arg) c.522T>C | ClinVar |
| X | g.153866820A>T | CA415120646 | L1CAM | c.2260T>A (p.Trp754Arg) c.2245T>A (p.Trp749Arg) c.522T>A | ClinVar dbSNP |
| X | g.153866821C>A | CA415120649 | L1CAM | c.2259G>T (p.Gln753His) c.2244G>T (p.Gln748His) c.521G>T | |
| X | g.153866821C= | CA2466506057 | L1CAM | c.2259G= (p.Gln753=) c.2244G= (p.Gln748=) c.521G= | |
| X | g.153866821C>G | CA415120651 | L1CAM | c.2259G>C (p.Gln753His) c.2244G>C (p.Gln748His) c.521G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153866821C>T | CA10554197 | L1CAM | c.2259G>A (p.Gln753=) c.2244G>A (p.Gln748=) c.521G>A | dbSNP ExAC gnomAD v4 |
| X | g.153866822T>A | CA415120656 | L1CAM | c.2258A>T (p.Gln753Leu) c.2243A>T (p.Gln748Leu) c.520A>T | |
| X | g.153866822T>C | CA415120658 | L1CAM | c.2258A>G (p.Gln753Arg) c.2243A>G (p.Gln748Arg) c.520A>G | |
| X | g.153866822T>G | CA415120661 | L1CAM | c.2258A>C (p.Gln753Pro) c.2243A>C (p.Gln748Pro) c.520A>C | |
| X | g.153866823G>A | CA415120666 | L1CAM | c.2257C>T (p.Gln753Ter) c.2242C>T (p.Gln748Ter) c.519C>T | |
| X | g.153866823G>C | CA415120668 | L1CAM | c.2257C>G (p.Gln753Glu) c.2242C>G (p.Gln748Glu) c.519C>G | |
| X | g.153866823G>T | CA415120664 | L1CAM | c.2257C>A (p.Gln753Lys) c.2242C>A (p.Gln748Lys) c.519C>A | |
| X | g.153866824C>A | CA519343768 | L1CAM | c.2256G>T (p.Val752=) c.2241G>T (p.Val747=) c.518G>T | |
| X | g.153866824C>G | CA519343769 | L1CAM | c.2256G>C (p.Val752=) c.2241G>C (p.Val747=) c.518G>C | |
| X | g.153866824C>T | CA519343770 | L1CAM | c.2256G>A (p.Val752=) c.2241G>A (p.Val747=) c.518G>A | gnomAD v4 |
| X | g.153866825A>C | CA415120674 | L1CAM | c.2255T>G (p.Val752Gly) c.2240T>G (p.Val747Gly) c.517T>G | |
| X | g.153866825A>G | CA415120672 | L1CAM | c.2255T>C (p.Val752Ala) c.2240T>C (p.Val747Ala) c.517T>C | |
| X | g.153866825A>T | CA415120675 | L1CAM | c.2255T>A (p.Val752Glu) c.2240T>A (p.Val747Glu) c.517T>A | |
| X | g.153866826del | CA2579732745 | L1CAM | c.2254del (p.Val752CysfsTer?) c.2239del (p.Val747CysfsTer?) c.516del | |
| X | g.153866826C>A | CA415120676 | L1CAM | c.2254G>T (p.Val752Leu) c.2239G>T (p.Val747Leu) c.516G>T | |
| X | g.153866826C= | CA2466506065 | L1CAM | c.2254G= (p.Val752=) c.2239G= (p.Val747=) c.516G= | |
| X | g.153866826C>G | CA415120678 | L1CAM | c.2254G>C (p.Val752Leu) c.2239G>C (p.Val747Leu) c.516G>C | |
| X | g.153866826C>T | CA120881 | L1CAM | c.2254G>A (p.Val752Met) c.2239G>A (p.Val747Met) c.516G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.153866827G>A | CA10554198 | L1CAM | c.2253C>T (p.Arg751=) c.2238C>T (p.Arg746=) c.515C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153866827G>C | CA519343771 | L1CAM | c.2253C>G (p.Arg751=) c.2238C>G (p.Arg746=) c.515C>G | gnomAD v4 |
| X | g.153866827G= | CA2466506071 | L1CAM | c.2253C= (p.Arg751=) c.2238C= (p.Arg746=) c.515C= | |
| X | g.153866827G>T | CA519343772 | L1CAM | c.2253C>A (p.Arg751=) c.2238C>A (p.Arg746=) c.515C>A | |
| X | g.153866828C>A | CA415120682 | L1CAM | c.2252G>T (p.Arg751Leu) c.2237G>T (p.Arg746Leu) c.514G>T | |
| X | g.153866828C= | CA2466506074 | L1CAM | c.2252G= (p.Arg751=) c.2237G= (p.Arg746=) c.514G= | |
| X | g.153866828C>G | CA415120683 | L1CAM | c.2252G>C (p.Arg751Pro) c.2237G>C (p.Arg746Pro) c.514G>C | |
| X | g.153866828C>T | CA10554199 | L1CAM | c.2252G>A (p.Arg751His) c.2237G>A (p.Arg746His) c.514G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.153866829G>A | CA415120688 | L1CAM | c.2251C>T (p.Arg751Cys) c.2236C>T (p.Arg746Cys) c.513C>T | gnomAD v4 |
| X | g.153866829G>C | CA415120690 | L1CAM | c.2251C>G (p.Arg751Gly) c.2236C>G (p.Arg746Gly) c.513C>G | |
| X | g.153866829G>T | CA415120692 | L1CAM | c.2251C>A (p.Arg751Ser) c.2236C>A (p.Arg746Ser) c.513C>A | |
| X | g.153866830G>A | CA519343773 | L1CAM | c.2250C>T (p.Tyr750=) c.2235C>T (p.Tyr745=) c.512C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153866830G>C | CA415120694 | L1CAM | c.2250C>G (p.Tyr750Ter) c.2235C>G (p.Tyr745Ter) c.512C>G | |
| X | g.153866830G= | CA2466506078 | L1CAM | c.2250C= (p.Tyr750=) c.2235C= (p.Tyr745=) c.512C= | |
| X | g.153866830G>T | CA415120697 | L1CAM | c.2250C>A (p.Tyr750Ter) c.2235C>A (p.Tyr745Ter) c.512C>A | |
| X | g.153866831T>A | CA415120698 | L1CAM | c.2249A>T (p.Tyr750Phe) c.2234A>T (p.Tyr745Phe) c.511A>T | |
| X | g.153866831T>C | CA415120699 | L1CAM | c.2249A>G (p.Tyr750Cys) c.2234A>G (p.Tyr745Cys) c.511A>G | ClinVar dbSNP |
| X | g.153866831T>G | CA16621230 | L1CAM | c.2249A>C (p.Tyr750Ser) c.2234A>C (p.Tyr745Ser) c.511A>C | ClinVar dbSNP |
| X | g.153866831T= | CA2466506081 | L1CAM | c.2249A= (p.Tyr750=) c.2234A= (p.Tyr745=) c.511A= | |
| X | g.153866832A>C | CA415120708 | L1CAM | c.2248T>G (p.Tyr750Asp) c.2233T>G (p.Tyr745Asp) c.510T>G | |
| X | g.153866832A>G | CA415120711 | L1CAM | c.2248T>C (p.Tyr750His) c.2233T>C (p.Tyr745His) c.510T>C | |
| X | g.153866832A>T | CA415120709 | L1CAM | c.2248T>A (p.Tyr750Asn) c.2233T>A (p.Tyr745Asn) c.510T>A | |
| X | g.153866833C>A | CA415120713 | L1CAM | c.2247G>T (p.Gln749His) c.2232G>T (p.Gln744His) c.509G>T | |
| X | g.153866833C>G | CA415120715 | L1CAM | c.2247G>C (p.Gln749His) c.2232G>C (p.Gln744His) c.509G>C | |
| X | g.153866833C>T | CA519343774 | L1CAM | c.2247G>A (p.Gln749=) c.2232G>A (p.Gln744=) c.509G>A | gnomAD v4 |
| X | g.153866833dup | CA2842767140 | L1CAM | c.2247dup (p.Tyr750ValfsTer?) c.2232dup (p.Tyr745ValfsTer?) c.509dup | |
| X | g.153866834T>A | CA415120717 | L1CAM | c.2246A>T (p.Gln749Leu) c.2231A>T (p.Gln744Leu) c.508A>T | |
| X | g.153866834T>C | CA415120720 | L1CAM | c.2246A>G (p.Gln749Arg) c.2231A>G (p.Gln744Arg) c.508A>G | gnomAD v4 |
| X | g.153866834T>G | CA415120723 | L1CAM | c.2246A>C (p.Gln749Pro) c.2231A>C (p.Gln744Pro) c.508A>C | |
| X | g.153866835G>A | CA415120725 | L1CAM | c.2245C>T (p.Gln749Ter) c.2230C>T (p.Gln744Ter) c.507C>T | |
| X | g.153866835G>C | CA415120727 | L1CAM | c.2245C>G (p.Gln749Glu) c.2230C>G (p.Gln744Glu) c.507C>G | |
| X | g.153866835G>T | CA415120729 | L1CAM | c.2245C>A (p.Gln749Lys) c.2230C>A (p.Gln744Lys) c.507C>A | |
| X | g.153866836A>C | CA519343775 | L1CAM | c.2244T>G (p.Val748=) c.2229T>G (p.Val743=) c.506T>G | |
| X | g.153866836A>G | CA519343776 | L1CAM | c.2244T>C (p.Val748=) c.2229T>C (p.Val743=) c.506T>C | |
| X | g.153866836A>T | CA519343777 | L1CAM | c.2244T>A (p.Val748=) c.2229T>A (p.Val743=) c.506T>A | |
| X | g.153866837A= | CA2466506085 | L1CAM | c.2243T= (p.Val748=) c.2228T= (p.Val743=) c.505T= | |
| X | g.153866837A>C | CA415120735 | L1CAM | c.2243T>G (p.Val748Gly) c.2228T>G (p.Val743Gly) c.505T>G | |
| X | g.153866837A>G | CA10554200 | L1CAM | c.2243T>C (p.Val748Ala) c.2228T>C (p.Val743Ala) c.505T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153866837A>T | CA415120732 | L1CAM | c.2243T>A (p.Val748Asp) c.2228T>A (p.Val743Asp) c.505T>A | |
| X | g.153866838C>A | CA415120737 | L1CAM | c.2242G>T (p.Val748Phe) c.2227G>T (p.Val743Phe) c.504G>T | dbSNP |
| X | g.153866838C= | CA2466506089 | L1CAM | c.2242G= (p.Val748=) c.2227G= (p.Val743=) c.504G= | |
| X | g.153866838C>G | CA415120740 | L1CAM | c.2242G>C (p.Val748Leu) c.2227G>C (p.Val743Leu) c.504G>C | |
| X | g.153866838C>T | CA415120742 | L1CAM | c.2242G>A (p.Val748Ile) c.2227G>A (p.Val743Ile) c.504G>A | |
| X | g.153866839C>A | CA415120744 | L1CAM | c.2241G>T (p.Gln747His) c.2226G>T (p.Gln742His) c.503G>T | dbSNP |
| X | g.153866839C= | CA2466506091 | L1CAM | c.2241G= (p.Gln747=) c.2226G= (p.Gln742=) c.503G= | |
| X | g.153866839C>G | CA415120746 | L1CAM | c.2241G>C (p.Gln747His) c.2226G>C (p.Gln742His) c.503G>C | |
| X | g.153866839C>T | CA519343778 | L1CAM | c.2241G>A (p.Gln747=) c.2226G>A (p.Gln742=) c.503G>A | |
| X | g.153866840T>A | CA415120749 | L1CAM | c.2240A>T (p.Gln747Leu) c.2225A>T (p.Gln742Leu) c.502A>T | |
| X | g.153866840T>C | CA415120751 | L1CAM | c.2240A>G (p.Gln747Arg) c.2225A>G (p.Gln742Arg) c.502A>G | |
| X | g.153866840T>G | CA415120754 | L1CAM | c.2240A>C (p.Gln747Pro) c.2225A>C (p.Gln742Pro) c.502A>C | |
| X | g.153866840_153866841delinsTG | CA2466506095 | L1CAM | c.2239_2240delinsCA (p.Gln747=) c.2224_2225delinsCA (p.Gln742=) c.501_502delinsCA | |
| X | g.153866841G>A | CA415120757 | L1CAM | c.2239C>T (p.Gln747Ter) c.2224C>T (p.Gln742Ter) c.501C>T | |
| X | g.153866841G>C | CA415120758 | L1CAM | c.2239C>G (p.Gln747Glu) c.2224C>G (p.Gln742Glu) c.501C>G | |
| X | g.153866841G>T | CA415120761 | L1CAM | c.2239C>A (p.Gln747Lys) c.2224C>A (p.Gln742Lys) c.501C>A | |
| X | g.153866846dup | CA2824280632 | L1CAM | c.2239dup (p.Gln747ProfsTer?) c.2224dup (p.Gln742ProfsTer?) c.501dup | |
| X | g.153866846del | CA10554201 | L1CAM | c.2239del (p.Gln747ArgfsTer?) c.2224del (p.Gln742ArgfsTer?) c.501del | dbSNP ExAC |
| X | g.153866842G>A | CA10554202 | L1CAM | c.2238C>T (p.Pro746=) c.2223C>T (p.Pro741=) c.500C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153866842G>C | CA519343779 | L1CAM | c.2238C>G (p.Pro746=) c.2223C>G (p.Pro741=) c.500C>G | |
| X | g.153866842G= | CA2466506114 | L1CAM | c.2238C= (p.Pro746=) c.2223C= (p.Pro741=) c.500C= | |
| X | g.153866842G>T | CA519343780 | L1CAM | c.2238C>A (p.Pro746=) c.2223C>A (p.Pro741=) c.500C>A | |
| X | g.153866843G>A | CA415120766 | L1CAM | c.2237C>T (p.Pro746Leu) c.2222C>T (p.Pro741Leu) c.499C>T | |
| X | g.153866843G>C | CA415120770 | L1CAM | c.2237C>G (p.Pro746Arg) c.2222C>G (p.Pro741Arg) c.499C>G | |
| X | g.153866843G>T | CA415120768 | L1CAM | c.2237C>A (p.Pro746His) c.2222C>A (p.Pro741His) c.499C>A | |
| X | g.153866844G>A | CA415120771 | L1CAM | c.2236C>T (p.Pro746Ser) c.2221C>T (p.Pro741Ser) c.498C>T | ClinVar |
| X | g.153866844G>C | CA415120773 | L1CAM | c.2236C>G (p.Pro746Ala) c.2221C>G (p.Pro741Ala) c.498C>G | |
| X | g.153866844G>T | CA415120776 | L1CAM | c.2236C>A (p.Pro746Thr) c.2221C>A (p.Pro741Thr) c.498C>A | |
| X | g.153866845G>A | CA519343781 | L1CAM | c.2235C>T (p.Ala745=) c.2220C>T (p.Ala740=) c.497C>T | |
| X | g.153866845G>C | CA519343782 | L1CAM | c.2235C>G (p.Ala745=) c.2220C>G (p.Ala740=) c.497C>G | |
| X | g.153866845G>T | CA519343783 | L1CAM | c.2235C>A (p.Ala745=) c.2220C>A (p.Ala740=) c.497C>A |