UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.97015012A= | CA1565681242 | LNPEP | c.2293A= (p.Ile765=) c.2251A= (p.Ile751=) | |
| 5 | g.97015012A>C | CA360508118 | LNPEP | c.2293A>C (p.Ile765Leu) c.2251A>C (p.Ile751Leu) | |
| 5 | g.97015012A>G | CA360508121 | LNPEP | c.2293A>G (p.Ile765Val) c.2251A>G (p.Ile751Val) | dbSNP |
| 5 | g.97015012A>T | CA360508124 | LNPEP | c.2293A>T (p.Ile765Phe) c.2251A>T (p.Ile751Phe) | gnomAD v4 |
| 5 | g.97015012_97015013insG | CA2564969290 | LNPEP | c.2293_2294insG (p.Ile765SerfsTer13) c.2251_2252insG (p.Ile751SerfsTer13) | |
| 5 | g.97015013T>A | CA360508127 | LNPEP | c.2294T>A (p.Ile765Asn) c.2252T>A (p.Ile751Asn) | |
| 5 | g.97015013T>C | CA360508131 | LNPEP | c.2294T>C (p.Ile765Thr) c.2252T>C (p.Ile751Thr) | |
| 5 | g.97015013T>G | CA360508129 | LNPEP | c.2294T>G (p.Ile765Ser) c.2252T>G (p.Ile751Ser) | |
| 5 | g.97015014C>A | CA445518237 | LNPEP | c.2295C>A (p.Ile765=) c.2253C>A (p.Ile751=) | |
| 5 | g.97015014C>G | CA360508133 | LNPEP | c.2295C>G (p.Ile765Met) c.2253C>G (p.Ile751Met) | |
| 5 | g.97015014C>T | CA445518238 | LNPEP | c.2295C>T (p.Ile765=) c.2253C>T (p.Ile751=) | |
| 5 | g.97015014_97015017del | CA2674699049 | LNPEP | c.2295_2298del (p.Ile765MetfsTer27) c.2253_2256del (p.Ile751MetfsTer27) | gnomAD v4 |
| 5 | g.97015015A>C | CA360508139 | LNPEP | c.2296A>C (p.Thr766Pro) c.2254A>C (p.Thr752Pro) | |
| 5 | g.97015015A>G | CA360508134 | LNPEP | c.2296A>G (p.Thr766Ala) c.2254A>G (p.Thr752Ala) | |
| 5 | g.97015015A>T | CA360508135 | LNPEP | c.2296A>T (p.Thr766Ser) c.2254A>T (p.Thr752Ser) | |
| 5 | g.97015016C>A | CA360508142 | LNPEP | c.2297C>A (p.Thr766Asn) c.2255C>A (p.Thr752Asn) | gnomAD v4 |
| 5 | g.97015016C>G | CA360508143 | LNPEP | c.2297C>G (p.Thr766Ser) c.2255C>G (p.Thr752Ser) | |
| 5 | g.97015016C>T | CA360508145 | LNPEP | c.2297C>T (p.Thr766Ile) c.2255C>T (p.Thr752Ile) | |
| 5 | g.97015017C>A | CA445518242 | LNPEP | c.2298C>A (p.Thr766=) c.2256C>A (p.Thr752=) | |
| 5 | g.97015017C= | CA1565681243 | LNPEP | c.2298C= (p.Thr766=) c.2256C= (p.Thr752=) | |
| 5 | g.97015017C>G | CA445518243 | LNPEP | c.2298C>G (p.Thr766=) c.2256C>G (p.Thr752=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.97015017C>T | CA3354211 | LNPEP | c.2298C>T (p.Thr766=) c.2256C>T (p.Thr752=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015018G>A | CA3354212 | LNPEP | c.2299G>A (p.Glu767Lys) c.2257G>A (p.Glu753Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015018G>C | CA360508155 | LNPEP | c.2299G>C (p.Glu767Gln) c.2257G>C (p.Glu753Gln) | |
| 5 | g.97015018G= | CA1565681244 | LNPEP | c.2299G= (p.Glu767=) c.2257G= (p.Glu753=) | |
| 5 | g.97015018G>T | CA360508157 | LNPEP | c.2299G>T (p.Glu767Ter) c.2257G>T (p.Glu753Ter) | |
| 5 | g.97015019A>C | CA360508160 | LNPEP | c.2300A>C (p.Glu767Ala) c.2258A>C (p.Glu753Ala) | |
| 5 | g.97015019A>G | CA360508163 | LNPEP | c.2300A>G (p.Glu767Gly) c.2258A>G (p.Glu753Gly) | |
| 5 | g.97015019A>T | CA360508168 | LNPEP | c.2300A>T (p.Glu767Val) c.2258A>T (p.Glu753Val) | |
| 5 | g.97015020A>C | CA360508171 | LNPEP | c.2301A>C (p.Glu767Asp) c.2259A>C (p.Glu753Asp) | |
| 5 | g.97015020A>G | CA445518248 | LNPEP | c.2301A>G (p.Glu767=) c.2259A>G (p.Glu753=) | gnomAD v4 |
| 5 | g.97015020A>T | CA360508172 | LNPEP | c.2301A>T (p.Glu767Asp) c.2259A>T (p.Glu753Asp) | |
| 5 | g.97015021G>A | CA360508173 | LNPEP | c.2302G>A (p.Ala768Thr) c.2260G>A (p.Ala754Thr) | |
| 5 | g.97015021G>C | CA360508175 | LNPEP | c.2302G>C (p.Ala768Pro) c.2260G>C (p.Ala754Pro) | |
| 5 | g.97015021G>T | CA360508176 | LNPEP | c.2302G>T (p.Ala768Ser) c.2260G>T (p.Ala754Ser) | |
| 5 | g.97015022C>A | CA360508177 | LNPEP | c.2303C>A (p.Ala768Asp) c.2261C>A (p.Ala754Asp) | |
| 5 | g.97015022C>G | CA360508178 | LNPEP | c.2303C>G (p.Ala768Gly) c.2261C>G (p.Ala754Gly) | |
| 5 | g.97015022C>T | CA360508179 | LNPEP | c.2303C>T (p.Ala768Val) c.2261C>T (p.Ala754Val) | gnomAD v4 |
| 5 | g.97015024del | CA2674699050 | LNPEP | c.2305del (p.Leu769CysfsTer24) c.2263del (p.Leu755CysfsTer24) | gnomAD v4 |
| 5 | g.97015023C>A | CA445518259 | LNPEP | c.2304C>A (p.Ala768=) c.2262C>A (p.Ala754=) | COSMIC |
| 5 | g.97015023C= | CA1565681245 | LNPEP | c.2304C= (p.Ala768=) c.2262C= (p.Ala754=) | |
| 5 | g.97015023C>G | CA445518261 | LNPEP | c.2304C>G (p.Ala768=) c.2262C>G (p.Ala754=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.97015023C>T | CA445518263 | LNPEP | c.2304C>T (p.Ala768=) c.2262C>T (p.Ala754=) | COSMIC |
| 5 | g.97015024C>A | CA360508180 | LNPEP | c.2305C>A (p.Leu769Met) c.2263C>A (p.Leu755Met) | |
| 5 | g.97015024C>G | CA360508181 | LNPEP | c.2305C>G (p.Leu769Val) c.2263C>G (p.Leu755Val) | |
| 5 | g.97015024C>T | CA445518267 | LNPEP | c.2305C>T (p.Leu769=) c.2263C>T (p.Leu755=) | |
| 5 | g.97015025T>A | CA360508183 | LNPEP | c.2306T>A (p.Leu769Gln) c.2264T>A (p.Leu755Gln) | |
| 5 | g.97015025T>C | CA360508185 | LNPEP | c.2306T>C (p.Leu769Pro) c.2264T>C (p.Leu755Pro) | |
| 5 | g.97015025T>G | CA360508190 | LNPEP | c.2306T>G (p.Leu769Arg) c.2264T>G (p.Leu755Arg) | |
| 5 | g.97015026G>A | CA445518275 | LNPEP | c.2307G>A (p.Leu769=) c.2265G>A (p.Leu755=) | |
| 5 | g.97015026G>C | CA445518273 | LNPEP | c.2307G>C (p.Leu769=) c.2265G>C (p.Leu755=) | |
| 5 | g.97015026G>T | CA445518276 | LNPEP | c.2307G>T (p.Leu769=) c.2265G>T (p.Leu755=) | |
| 5 | g.97015027T>A | CA360508193 | LNPEP | c.2308T>A (p.Phe770Ile) c.2266T>A (p.Phe756Ile) | |
| 5 | g.97015027T>C | CA360508194 | LNPEP | c.2308T>C (p.Phe770Leu) c.2266T>C (p.Phe756Leu) | |
| 5 | g.97015027T>G | CA360508192 | LNPEP | c.2308T>G (p.Phe770Val) c.2266T>G (p.Phe756Val) | |
| 5 | g.97015028T>A | CA360508195 | LNPEP | c.2309T>A (p.Phe770Tyr) c.2267T>A (p.Phe756Tyr) | |
| 5 | g.97015028T>C | CA360508196 | LNPEP | c.2309T>C (p.Phe770Ser) c.2267T>C (p.Phe756Ser) | |
| 5 | g.97015028T>G | CA360508197 | LNPEP | c.2309T>G (p.Phe770Cys) c.2267T>G (p.Phe756Cys) | |
| 5 | g.97015029T>A | CA360508200 | LNPEP | c.2310T>A (p.Phe770Leu) c.2268T>A (p.Phe756Leu) | |
| 5 | g.97015029T>C | CA445518286 | LNPEP | c.2310T>C (p.Phe770=) c.2268T>C (p.Phe756=) | gnomAD v4 |
| 5 | g.97015029T>G | CA360508201 | LNPEP | c.2310T>G (p.Phe770Leu) c.2268T>G (p.Phe756Leu) | |
| 5 | g.97015030C>A | CA360508206 | LNPEP | c.2311C>A (p.Gln771Lys) c.2269C>A (p.Gln757Lys) | |
| 5 | g.97015030C>G | CA360508202 | LNPEP | c.2311C>G (p.Gln771Glu) c.2269C>G (p.Gln757Glu) | gnomAD v4 |
| 5 | g.97015030C>T | CA360508204 | LNPEP | c.2311C>T (p.Gln771Ter) c.2269C>T (p.Gln757Ter) | |
| 5 | g.97015031A>C | CA360508207 | LNPEP | c.2312A>C (p.Gln771Pro) c.2270A>C (p.Gln757Pro) | |
| 5 | g.97015031A>G | CA360508209 | LNPEP | c.2312A>G (p.Gln771Arg) c.2270A>G (p.Gln757Arg) | gnomAD v4 |
| 5 | g.97015031A>T | CA360508210 | LNPEP | c.2312A>T (p.Gln771Leu) c.2270A>T (p.Gln757Leu) | gnomAD v4 |
| 5 | g.97015032G>A | CA123004891 | LNPEP | c.2313G>A (p.Gln771=) c.2271G>A (p.Gln757=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015032G>C | CA360508212 | LNPEP | c.2313G>C (p.Gln771His) c.2271G>C (p.Gln757His) | |
| 5 | g.97015032G= | CA1565681246 | LNPEP | c.2313G= (p.Gln771=) c.2271G= (p.Gln757=) | |
| 5 | g.97015032G>T | CA360508213 | LNPEP | c.2313G>T (p.Gln771His) c.2271G>T (p.Gln757His) | dbSNP |
| 5 | g.97015033A= | CA1565681247 | LNPEP | c.2314A= (p.Thr772=) c.2272A= (p.Thr758=) | |
| 5 | g.97015033A>C | CA360508215 | LNPEP | c.2314A>C (p.Thr772Pro) c.2272A>C (p.Thr758Pro) | |
| 5 | g.97015033A>G | CA3354213 | LNPEP | c.2314A>G (p.Thr772Ala) c.2272A>G (p.Thr758Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015033A>T | CA360508217 | LNPEP | c.2314A>T (p.Thr772Ser) c.2272A>T (p.Thr758Ser) | |
| 5 | g.97015034C>A | CA360508222 | LNPEP | c.2315C>A (p.Thr772Lys) c.2273C>A (p.Thr758Lys) | gnomAD v4 |
| 5 | g.97015034C= | CA1565681248 | LNPEP | c.2315C= (p.Thr772=) c.2273C= (p.Thr758=) | |
| 5 | g.97015034C>G | CA360508224 | LNPEP | c.2315C>G (p.Thr772Arg) c.2273C>G (p.Thr758Arg) | |
| 5 | g.97015034C>T | CA123004905 | LNPEP | c.2315C>T (p.Thr772Ile) c.2273C>T (p.Thr758Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.97015035A>C | CA445518305 | LNPEP | c.2316A>C (p.Thr772=) c.2274A>C (p.Thr758=) | gnomAD v4 |
| 5 | g.97015035A>G | CA445518307 | LNPEP | c.2316A>G (p.Thr772=) c.2274A>G (p.Thr758=) | |
| 5 | g.97015035A>T | CA445518308 | LNPEP | c.2316A>T (p.Thr772=) c.2274A>T (p.Thr758=) | |
| 5 | g.97015036G>A | CA360508230 | LNPEP | c.2317G>A (p.Asp773Asn) c.2275G>A (p.Asp759Asn) | |
| 5 | g.97015036G>C | CA360508231 | LNPEP | c.2317G>C (p.Asp773His) c.2275G>C (p.Asp759His) | |
| 5 | g.97015036G>T | CA360508232 | LNPEP | c.2317G>T (p.Asp773Tyr) c.2275G>T (p.Asp759Tyr) | |
| 5 | g.97015037A>C | CA360508233 | LNPEP | c.2318A>C (p.Asp773Ala) c.2276A>C (p.Asp759Ala) | |
| 5 | g.97015037A>G | CA360508235 | LNPEP | c.2318A>G (p.Asp773Gly) c.2276A>G (p.Asp759Gly) | |
| 5 | g.97015037A>T | CA360508237 | LNPEP | c.2318A>T (p.Asp773Val) c.2276A>T (p.Asp759Val) | |
| 5 | g.97015038C>A | CA3354214 | LNPEP | c.2319C>A (p.Asp773Glu) c.2277C>A (p.Asp759Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015038C= | CA1565681249 | LNPEP | c.2319C= (p.Asp773=) c.2277C= (p.Asp759=) | |
| 5 | g.97015038C>G | CA360508241 | LNPEP | c.2319C>G (p.Asp773Glu) c.2277C>G (p.Asp759Glu) | |
| 5 | g.97015038C>T | CA445518315 | LNPEP | c.2319C>T (p.Asp773=) c.2277C>T (p.Asp759=) | gnomAD v4 |
| 5 | g.97015039C>A | CA360508248 | LNPEP | c.2320C>A (p.Leu774Ile) c.2278C>A (p.Leu760Ile) | gnomAD v4 |
| 5 | g.97015039C>G | CA360508245 | LNPEP | c.2320C>G (p.Leu774Val) c.2278C>G (p.Leu760Val) | |
| 5 | g.97015039C>T | CA360508244 | LNPEP | c.2320C>T (p.Leu774Phe) c.2278C>T (p.Leu760Phe) | gnomAD v4 |
| 5 | g.97015040T>A | CA360508250 | LNPEP | c.2321T>A (p.Leu774His) c.2279T>A (p.Leu760His) | |
| 5 | g.97015040T>C | CA360508252 | LNPEP | c.2321T>C (p.Leu774Pro) c.2279T>C (p.Leu760Pro) | |
| 5 | g.97015040T>G | CA360508255 | LNPEP | c.2321T>G (p.Leu774Arg) c.2279T>G (p.Leu760Arg) | |
| 5 | g.97015041C>A | CA445518327 | LNPEP | c.2322C>A (p.Leu774=) c.2280C>A (p.Leu760=) | |
| 5 | g.97015041C= | CA1565681250 | LNPEP | c.2322C= (p.Leu774=) c.2280C= (p.Leu760=) | |
| 5 | g.97015041C>G | CA445518326 | LNPEP | c.2322C>G (p.Leu774=) c.2280C>G (p.Leu760=) | |
| 5 | g.97015041C>T | CA3354215 | LNPEP | c.2322C>T (p.Leu774=) c.2280C>T (p.Leu760=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.97015042A= | CA1565681251 | LNPEP | c.2323A= (p.Ile775=) c.2281A= (p.Ile761=) | |
| 5 | g.97015042A>C | CA360508259 | LNPEP | c.2323A>C (p.Ile775Leu) c.2281A>C (p.Ile761Leu) | dbSNP gnomAD v4 |
| 5 | g.97015042A>G | CA360508260 | LNPEP | c.2323A>G (p.Ile775Val) c.2281A>G (p.Ile761Val) | gnomAD v4 |
| 5 | g.97015042A>T | CA360508262 | LNPEP | c.2323A>T (p.Ile775Phe) c.2281A>T (p.Ile761Phe) | |
| 5 | g.97015042_97015043insCCCTTGCCTCCTCACTCCCTCGGCCTACTCCTGTTTAT | CA3354216 | LNPEP | c.2323_2324insCCCTTGCCTCCTCACTCCCTCGGCCTACTCCTGTTTAT (p.Ile775ThrfsTer31) c.2281_2282insCCCTTGCCTCCTCACTCCCTCGGCCTACTCCTGTTTAT (p.Ile761ThrfsTer31) | dbSNP ExAC |
| 5 | g.97015043T>A | CA360508268 | LNPEP | c.2324T>A (p.Ile775Asn) c.2282T>A (p.Ile761Asn) | |
| 5 | g.97015043T>C | CA360508275 | LNPEP | c.2324T>C (p.Ile775Thr) c.2282T>C (p.Ile761Thr) | |
| 5 | g.97015043T>G | CA360508272 | LNPEP | c.2324T>G (p.Ile775Ser) c.2282T>G (p.Ile761Ser) | |
| 5 | g.97015044C>A | CA445518336 | LNPEP | c.2325C>A (p.Ile775=) c.2283C>A (p.Ile761=) | |
| 5 | g.97015044C>G | CA360508296 | LNPEP | c.2325C>G (p.Ile775Met) c.2283C>G (p.Ile761Met) | |
| 5 | g.97015044C>T | CA445518337 | LNPEP | c.2325C>T (p.Ile775=) c.2283C>T (p.Ile761=) | gnomAD v4 |
| 5 | g.97015045T>A | CA360508300 | LNPEP | c.2326T>A (p.Tyr776Asn) c.2284T>A (p.Tyr762Asn) | |
| 5 | g.97015045T>C | CA360508305 | LNPEP | c.2326T>C (p.Tyr776His) c.2284T>C (p.Tyr762His) | |
| 5 | g.97015045T>G | CA360508308 | LNPEP | c.2326T>G (p.Tyr776Asp) c.2284T>G (p.Tyr762Asp) | |
| 5 | g.97015046A= | CA1565681252 | LNPEP | c.2327A= (p.Tyr776=) c.2285A= (p.Tyr762=) | |
| 5 | g.97015046A>C | CA360508311 | LNPEP | c.2327A>C (p.Tyr776Ser) c.2285A>C (p.Tyr762Ser) | |
| 5 | g.97015046A>G | CA360508309 | LNPEP | c.2327A>G (p.Tyr776Cys) c.2285A>G (p.Tyr762Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015046A>T | CA360508310 | LNPEP | c.2327A>T (p.Tyr776Phe) c.2285A>T (p.Tyr762Phe) | gnomAD v4 |
| 5 | g.97015047T>A | CA360508312 | LNPEP | c.2328T>A (p.Tyr776Ter) c.2286T>A (p.Tyr762Ter) | |
| 5 | g.97015047T>C | CA445518340 | LNPEP | c.2328T>C (p.Tyr776=) c.2286T>C (p.Tyr762=) | gnomAD v4 |
| 5 | g.97015047T>G | CA360508313 | LNPEP | c.2328T>G (p.Tyr776Ter) c.2286T>G (p.Tyr762Ter) | |
| 5 | g.97015048A>C | CA360508314 | LNPEP | c.2329A>C (p.Asn777His) c.2287A>C (p.Asn763His) | |
| 5 | g.97015048A>G | CA360508315 | LNPEP | c.2329A>G (p.Asn777Asp) c.2287A>G (p.Asn763Asp) | |
| 5 | g.97015048A>T | CA360508317 | LNPEP | c.2329A>T (p.Asn777Tyr) c.2287A>T (p.Asn763Tyr) | |
| 5 | g.97015049A>C | CA360508323 | LNPEP | c.2330A>C (p.Asn777Thr) c.2288A>C (p.Asn763Thr) | gnomAD v4 |
| 5 | g.97015049A>G | CA360508324 | LNPEP | c.2330A>G (p.Asn777Ser) c.2288A>G (p.Asn763Ser) | COSMIC |
| 5 | g.97015049A>T | CA360508327 | LNPEP | c.2330A>T (p.Asn777Ile) c.2288A>T (p.Asn763Ile) | |
| 5 | g.97015050C>A | CA360508330 | LNPEP | c.2331C>A (p.Asn777Lys) c.2289C>A (p.Asn763Lys) | gnomAD v4 |
| 5 | g.97015050C>G | CA360508331 | LNPEP | c.2331C>G (p.Asn777Lys) c.2289C>G (p.Asn763Lys) | |
| 5 | g.97015050C>T | CA445518350 | LNPEP | c.2331C>T (p.Asn777=) c.2289C>T (p.Asn763=) | gnomAD v4 |
| 5 | g.97015053_97015055del | CA2674699051 | LNPEP | c.2334_2336del (p.Leu779del) c.2292_2294del (p.Leu765del) | gnomAD v4 |
| 5 | g.97015051C>A | CA360508332 | LNPEP | c.2332C>A (p.Leu778Ile) c.2290C>A (p.Leu764Ile) | |
| 5 | g.97015051C= | CA1565681253 | LNPEP | c.2332C= (p.Leu778=) c.2290C= (p.Leu764=) | |
| 5 | g.97015051C>G | CA360508334 | LNPEP | c.2332C>G (p.Leu778Val) c.2290C>G (p.Leu764Val) | |
| 5 | g.97015051C>T | CA3354217 | LNPEP | c.2332C>T (p.Leu778Phe) c.2290C>T (p.Leu764Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015052T>A | CA360508349 | LNPEP | c.2333T>A (p.Leu778His) c.2291T>A (p.Leu764His) | |
| 5 | g.97015052T>C | CA360508357 | LNPEP | c.2333T>C (p.Leu778Pro) c.2291T>C (p.Leu764Pro) | gnomAD v4 |
| 5 | g.97015052T>G | CA360508352 | LNPEP | c.2333T>G (p.Leu778Arg) c.2291T>G (p.Leu764Arg) | |
| 5 | g.97015053C>A | CA445518357 | LNPEP | c.2334C>A (p.Leu778=) c.2292C>A (p.Leu764=) | |
| 5 | g.97015053C>G | CA445518360 | LNPEP | c.2334C>G (p.Leu778=) c.2292C>G (p.Leu764=) | |
| 5 | g.97015053C>T | CA445518362 | LNPEP | c.2334C>T (p.Leu778=) c.2292C>T (p.Leu764=) | |
| 5 | g.97015054C>A | CA360508360 | LNPEP | c.2335C>A (p.Leu779Ile) c.2293C>A (p.Leu765Ile) | |
| 5 | g.97015054C>G | CA360508362 | LNPEP | c.2335C>G (p.Leu779Val) c.2293C>G (p.Leu765Val) | |
| 5 | g.97015054C>T | CA360508366 | LNPEP | c.2335C>T (p.Leu779Phe) c.2293C>T (p.Leu765Phe) | |
| 5 | g.97015055T>A | CA360508370 | LNPEP | c.2336T>A (p.Leu779His) c.2294T>A (p.Leu765His) | |
| 5 | g.97015055T>C | CA360508375 | LNPEP | c.2336T>C (p.Leu779Pro) c.2294T>C (p.Leu765Pro) | |
| 5 | g.97015055T>G | CA360508380 | LNPEP | c.2336T>G (p.Leu779Arg) c.2294T>G (p.Leu765Arg) | |
| 5 | g.97015056T>A | CA445518371 | LNPEP | c.2337T>A (p.Leu779=) c.2295T>A (p.Leu765=) | |
| 5 | g.97015056T>C | CA445518372 | LNPEP | c.2337T>C (p.Leu779=) c.2295T>C (p.Leu765=) | dbSNP gnomAD v4 |
| 5 | g.97015056T>G | CA445518374 | LNPEP | c.2337T>G (p.Leu779=) c.2295T>G (p.Leu765=) | |
| 5 | g.97015056T= | CA1565681254 | LNPEP | c.2337T= (p.Leu779=) c.2295T= (p.Leu765=) | |
| 5 | g.97015057G>A | CA360508390 | LNPEP | c.2338G>A (p.Glu780Lys) c.2296G>A (p.Glu766Lys) | COSMIC |
| 5 | g.97015057G>C | CA360508384 | LNPEP | c.2338G>C (p.Glu780Gln) c.2296G>C (p.Glu766Gln) | |
| 5 | g.97015057G>T | CA360508387 | LNPEP | c.2338G>T (p.Glu780Ter) c.2296G>T (p.Glu766Ter) | gnomAD v4 |
| 5 | g.97015058A>C | CA360508392 | LNPEP | c.2339A>C (p.Glu780Ala) c.2297A>C (p.Glu766Ala) | |
| 5 | g.97015058A>G | CA360508395 | LNPEP | c.2339A>G (p.Glu780Gly) c.2297A>G (p.Glu766Gly) | gnomAD v4 |
| 5 | g.97015058A>T | CA360508398 | LNPEP | c.2339A>T (p.Glu780Val) c.2297A>T (p.Glu766Val) | |
| 5 | g.97015059A>C | CA360508400 | LNPEP | c.2340A>C (p.Glu780Asp) c.2298A>C (p.Glu766Asp) | |
| 5 | g.97015059A>G | CA445518387 | LNPEP | c.2340A>G (p.Glu780=) c.2298A>G (p.Glu766=) | |
| 5 | g.97015059A>T | CA360508403 | LNPEP | c.2340A>T (p.Glu780Asp) c.2298A>T (p.Glu766Asp) | |
| 5 | g.97015060A>C | CA360508409 | LNPEP | c.2341A>C (p.Lys781Gln) c.2299A>C (p.Lys767Gln) | |
| 5 | g.97015060A>G | CA360508414 | LNPEP | c.2341A>G (p.Lys781Glu) c.2299A>G (p.Lys767Glu) | |
| 5 | g.97015060A>T | CA360508412 | LNPEP | c.2341A>T (p.Lys781Ter) c.2299A>T (p.Lys767Ter) | |
| 5 | g.97015061A>C | CA360508419 | LNPEP | c.2342A>C (p.Lys781Thr) c.2300A>C (p.Lys767Thr) | |
| 5 | g.97015061A>G | CA360508422 | LNPEP | c.2342A>G (p.Lys781Arg) c.2300A>G (p.Lys767Arg) | |
| 5 | g.97015061A>T | CA360508424 | LNPEP | c.2342A>T (p.Lys781Ile) c.2300A>T (p.Lys767Ile) | |
| 5 | g.97015062A>C | CA360508428 | LNPEP | c.2343A>C (p.Lys781Asn) c.2301A>C (p.Lys767Asn) | |
| 5 | g.97015062A>G | CA445518399 | LNPEP | c.2343A>G (p.Lys781=) c.2301A>G (p.Lys767=) | |
| 5 | g.97015062A>T | CA360508435 | LNPEP | c.2343A>T (p.Lys781Asn) c.2301A>T (p.Lys767Asn) | |
| 5 | g.97015063C>A | CA360508439 | LNPEP | c.2344C>A (p.Leu782Met) c.2302C>A (p.Leu768Met) | |
| 5 | g.97015063C>G | CA360508443 | LNPEP | c.2344C>G (p.Leu782Val) c.2302C>G (p.Leu768Val) | |
| 5 | g.97015063C>T | CA445518404 | LNPEP | c.2344C>T (p.Leu782=) c.2302C>T (p.Leu768=) | |
| 5 | g.97015064T>A | CA360508445 | LNPEP | c.2345T>A (p.Leu782Gln) c.2303T>A (p.Leu768Gln) | |
| 5 | g.97015064T>C | CA360508447 | LNPEP | c.2345T>C (p.Leu782Pro) c.2303T>C (p.Leu768Pro) | |
| 5 | g.97015064T>G | CA360508449 | LNPEP | c.2345T>G (p.Leu782Arg) c.2303T>G (p.Leu768Arg) | |
| 5 | g.97015065G>A | CA445518412 | LNPEP | c.2346G>A (p.Leu782=) c.2304G>A (p.Leu768=) | dbSNP gnomAD v4 |
| 5 | g.97015065G>C | CA445518415 | LNPEP | c.2346G>C (p.Leu782=) c.2304G>C (p.Leu768=) | |
| 5 | g.97015065G= | CA1565681255 | LNPEP | c.2346G= (p.Leu782=) c.2304G= (p.Leu768=) | |
| 5 | g.97015065G>T | CA445518417 | LNPEP | c.2346G>T (p.Leu782=) c.2304G>T (p.Leu768=) | COSMIC |
| 5 | g.97015067del | CA2674699052 | LNPEP | c.2348del (p.Gly783AspfsTer10) c.2306del (p.Gly769AspfsTer10) | gnomAD v4 |
| 5 | g.97015066G>A | CA360508450 | LNPEP | c.2347G>A (p.Gly783Arg) c.2305G>A (p.Gly769Arg) | |
| 5 | g.97015066G>C | CA360508452 | LNPEP | c.2347G>C (p.Gly783Arg) c.2305G>C (p.Gly769Arg) | |
| 5 | g.97015066G>T | CA360508451 | LNPEP | c.2347G>T (p.Gly783Ter) c.2305G>T (p.Gly769Ter) | gnomAD v4 |
| 5 | g.97015067G>A | CA360508453 | LNPEP | c.2348G>A (p.Gly783Glu) c.2306G>A (p.Gly769Glu) | |
| 5 | g.97015067G>C | CA360508457 | LNPEP | c.2348G>C (p.Gly783Ala) c.2306G>C (p.Gly769Ala) | |
| 5 | g.97015067G>T | CA360508454 | LNPEP | c.2348G>T (p.Gly783Val) c.2306G>T (p.Gly769Val) | |
| 5 | g.97015068A= | CA1565681256 | LNPEP | c.2349A= (p.Gly783=) c.2307A= (p.Gly769=) | |
| 5 | g.97015068A>C | CA445518427 | LNPEP | c.2349A>C (p.Gly783=) c.2307A>C (p.Gly769=) | |
| 5 | g.97015068A>G | CA3354218 | LNPEP | c.2349A>G (p.Gly783=) c.2307A>G (p.Gly769=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015068A>T | CA445518429 | LNPEP | c.2349A>T (p.Gly783=) c.2307A>T (p.Gly769=) | |
| 5 | g.97015069T>A | CA360508463 | LNPEP | c.2350T>A (p.Tyr784Asn) c.2308T>A (p.Tyr770Asn) | |
| 5 | g.97015069T>C | CA360508466 | LNPEP | c.2350T>C (p.Tyr784His) c.2308T>C (p.Tyr770His) | |
| 5 | g.97015069T>G | CA360508469 | LNPEP | c.2350T>G (p.Tyr784Asp) c.2308T>G (p.Tyr770Asp) | |
| 5 | g.97015070A>C | CA360508471 | LNPEP | c.2351A>C (p.Tyr784Ser) c.2309A>C (p.Tyr770Ser) | |
| 5 | g.97015070A>G | CA360508472 | LNPEP | c.2351A>G (p.Tyr784Cys) c.2309A>G (p.Tyr770Cys) | gnomAD v4 |
| 5 | g.97015070A>T | CA360508473 | LNPEP | c.2351A>T (p.Tyr784Phe) c.2309A>T (p.Tyr770Phe) | |
| 5 | g.97015071C>A | CA360508474 | LNPEP | c.2352C>A (p.Tyr784Ter) c.2310C>A (p.Tyr770Ter) | gnomAD v4 |
| 5 | g.97015071C>G | CA360508475 | LNPEP | c.2352C>G (p.Tyr784Ter) c.2310C>G (p.Tyr770Ter) | |
| 5 | g.97015071C>T | CA445518444 | LNPEP | c.2352C>T (p.Tyr784=) c.2310C>T (p.Tyr770=) | gnomAD v4 |
| 5 | g.97015072A= | CA1565681257 | LNPEP | c.2353A= (p.Met785=) c.2311A= (p.Met771=) | |
| 5 | g.97015072A>C | CA360508476 | LNPEP | c.2353A>C (p.Met785Leu) c.2311A>C (p.Met771Leu) | |
| 5 | g.97015072A>G | CA360508477 | LNPEP | c.2353A>G (p.Met785Val) c.2311A>G (p.Met771Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.97015072A>T | CA360508478 | LNPEP | c.2353A>T (p.Met785Leu) c.2311A>T (p.Met771Leu) | gnomAD v4 |
| 5 | g.97015073T>A | CA360508481 | LNPEP | c.2354T>A (p.Met785Lys) c.2312T>A (p.Met771Lys) | |
| 5 | g.97015073T>C | CA360508479 | LNPEP | c.2354T>C (p.Met785Thr) c.2312T>C (p.Met771Thr) | |
| 5 | g.97015073T>G | CA3354219 | LNPEP | c.2354T>G (p.Met785Arg) c.2312T>G (p.Met771Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015073T= | CA1565681258 | LNPEP | c.2354T= (p.Met785=) c.2312T= (p.Met771=) | |
| 5 | g.97015074G>A | CA360508488 | LNPEP | c.2355G>A (p.Met785Ile) c.2313G>A (p.Met771Ile) | |
| 5 | g.97015074G>C | CA360508490 | LNPEP | c.2355G>C (p.Met785Ile) c.2313G>C (p.Met771Ile) | |
| 5 | g.97015074G>T | CA360508494 | LNPEP | c.2355G>T (p.Met785Ile) c.2313G>T (p.Met771Ile) | gnomAD v4 |
| 5 | g.97015075G>A | CA3354220 | LNPEP | c.2356G>A (p.Asp786Asn) c.2314G>A (p.Asp772Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015075G>C | CA360508501 | LNPEP | c.2356G>C (p.Asp786His) c.2314G>C (p.Asp772His) | |
| 5 | g.97015075G= | CA1565681259 | LNPEP | c.2356G= (p.Asp786=) c.2314G= (p.Asp772=) | |
| 5 | g.97015075G>T | CA360508504 | LNPEP | c.2356G>T (p.Asp786Tyr) c.2314G>T (p.Asp772Tyr) | |
| 5 | g.97015076A>C | CA360508506 | LNPEP | c.2357A>C (p.Asp786Ala) c.2315A>C (p.Asp772Ala) | |
| 5 | g.97015076A>G | CA360508510 | LNPEP | c.2357A>G (p.Asp786Gly) c.2315A>G (p.Asp772Gly) | |
| 5 | g.97015076A>T | CA360508512 | LNPEP | c.2357A>T (p.Asp786Val) c.2315A>T (p.Asp772Val) | |
| 5 | g.97015077T>A | CA360508515 | LNPEP | c.2358T>A (p.Asp786Glu) c.2316T>A (p.Asp772Glu) | gnomAD v4 |
| 5 | g.97015077T>C | CA445518467 | LNPEP | c.2358T>C (p.Asp786=) c.2316T>C (p.Asp772=) | gnomAD v4 |
| 5 | g.97015077T>G | CA360508517 | LNPEP | c.2358T>G (p.Asp786Glu) c.2316T>G (p.Asp772Glu) | |
| 5 | g.97015078C>A | CA360508519 | LNPEP | c.2359C>A (p.Leu787Met) c.2317C>A (p.Leu773Met) | |
| 5 | g.97015078C= | CA1565681260 | LNPEP | c.2359C= (p.Leu787=) c.2317C= (p.Leu773=) | |
| 5 | g.97015078C>G | CA360508521 | LNPEP | c.2359C>G (p.Leu787Val) c.2317C>G (p.Leu773Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.97015078C>T | CA445518471 | LNPEP | c.2359C>T (p.Leu787=) c.2317C>T (p.Leu773=) | |
| 5 | g.97015079T>A | CA360508524 | LNPEP | c.2360T>A (p.Leu787Gln) c.2318T>A (p.Leu773Gln) | |
| 5 | g.97015079T>C | CA360508527 | LNPEP | c.2360T>C (p.Leu787Pro) c.2318T>C (p.Leu773Pro) | gnomAD v4 |
| 5 | g.97015079T>G | CA360508529 | LNPEP | c.2360T>G (p.Leu787Arg) c.2318T>G (p.Leu773Arg) | |
| 5 | g.97015080G>A | CA445518475 | LNPEP | c.2361G>A (p.Leu787=) c.2319G>A (p.Leu773=) | |
| 5 | g.97015080G>C | CA445518478 | LNPEP | c.2361G>C (p.Leu787=) c.2319G>C (p.Leu773=) | |
| 5 | g.97015080G>T | CA445518480 | LNPEP | c.2361G>T (p.Leu787=) c.2319G>T (p.Leu773=) | |
| 5 | g.97015081G>A | CA360508530 | LNPEP | c.2362G>A (p.Ala788Thr) c.2320G>A (p.Ala774Thr) | dbSNP gnomAD v4 |
| 5 | g.97015081G>C | CA360508533 | LNPEP | c.2362G>C (p.Ala788Pro) c.2320G>C (p.Ala774Pro) | |
| 5 | g.97015081G= | CA1565681261 | LNPEP | c.2362G= (p.Ala788=) c.2320G= (p.Ala774=) | |
| 5 | g.97015081G>T | CA360508535 | LNPEP | c.2362G>T (p.Ala788Ser) c.2320G>T (p.Ala774Ser) | |
| 5 | g.97015082C>A | CA360508539 | LNPEP | c.2363C>A (p.Ala788Asp) c.2321C>A (p.Ala774Asp) | gnomAD v4 |
| 5 | g.97015082C>G | CA360508541 | LNPEP | c.2363C>G (p.Ala788Gly) c.2321C>G (p.Ala774Gly) | |
| 5 | g.97015082C>T | CA360508544 | LNPEP | c.2363C>T (p.Ala788Val) c.2321C>T (p.Ala774Val) | |
| 5 | g.97015083C>A | CA445518488 | LNPEP | c.2364C>A (p.Ala788=) c.2322C>A (p.Ala774=) | gnomAD v4 |
| 5 | g.97015083C= | CA1565681262 | LNPEP | c.2364C= (p.Ala788=) c.2322C= (p.Ala774=) | |
| 5 | g.97015083C>G | CA445518490 | LNPEP | c.2364C>G (p.Ala788=) c.2322C>G (p.Ala774=) | gnomAD v4 |
| 5 | g.97015083C>T | CA123004947 | LNPEP | c.2364C>T (p.Ala788=) c.2322C>T (p.Ala774=) | dbSNP gnomAD v4 |
| 5 | g.97015084T>A | CA360508549 | LNPEP | c.2365T>A (p.Ser789Thr) c.2323T>A (p.Ser775Thr) | |
| 5 | g.97015084T>C | CA360508550 | LNPEP | c.2365T>C (p.Ser789Pro) c.2323T>C (p.Ser775Pro) | |
| 5 | g.97015084T>G | CA360508551 | LNPEP | c.2365T>G (p.Ser789Ala) c.2323T>G (p.Ser775Ala) | |
| 5 | g.97015085C>A | CA360508557 | LNPEP | c.2366C>A (p.Ser789Ter) c.2324C>A (p.Ser775Ter) | gnomAD v4 |
| 5 | g.97015085C>G | CA360508556 | LNPEP | c.2366C>G (p.Ser789Ter) c.2324C>G (p.Ser775Ter) | COSMIC |
| 5 | g.97015085C>T | CA360508554 | LNPEP | c.2366C>T (p.Ser789Leu) c.2324C>T (p.Ser775Leu) | gnomAD v4 |
| 5 | g.97015086A>C | CA445518500 | LNPEP | c.2367A>C (p.Ser789=) c.2325A>C (p.Ser775=) | |
| 5 | g.97015086A>G | CA445518502 | LNPEP | c.2367A>G (p.Ser789=) c.2325A>G (p.Ser775=) | gnomAD v4 |
| 5 | g.97015086A>T | CA445518504 | LNPEP | c.2367A>T (p.Ser789=) c.2325A>T (p.Ser775=) | |
| 5 | g.97015087A>C | CA445518506 | LNPEP | c.2368A>C (p.Arg790=) c.2326A>C (p.Arg776=) | |
| 5 | g.97015087A>G | CA360508558 | LNPEP | c.2368A>G (p.Arg790Gly) c.2326A>G (p.Arg776Gly) | gnomAD v4 |
| 5 | g.97015087A>T | CA360508559 | LNPEP | c.2368A>T (p.Arg790Ter) c.2326A>T (p.Arg776Ter) | gnomAD v4 |
| 5 | g.97015088G>A | CA360508560 | LNPEP | c.2369G>A (p.Arg790Lys) c.2327G>A (p.Arg776Lys) | |
| 5 | g.97015088G>C | CA360508561 | LNPEP | c.2369G>C (p.Arg790Thr) c.2327G>C (p.Arg776Thr) | |
| 5 | g.97015088G>T | CA360508562 | LNPEP | c.2369G>T (p.Arg790Ile) c.2327G>T (p.Arg776Ile) | gnomAD v4 |
| 5 | g.97015089A>C | CA360508564 | LNPEP | c.2370A>C (p.Arg790Ser) c.2328A>C (p.Arg776Ser) | |
| 5 | g.97015089A>G | CA445518512 | LNPEP | c.2370A>G (p.Arg790=) c.2328A>G (p.Arg776=) | gnomAD v4 |
| 5 | g.97015089A>T | CA360508566 | LNPEP | c.2370A>T (p.Arg790Ser) c.2328A>T (p.Arg776Ser) | |
| 5 | g.97015090C>A | CA123004948 | LNPEP | c.2371C>A (p.Leu791Met) c.2329C>A (p.Leu777Met) | dbSNP gnomAD v4 |
| 5 | g.97015090C= | CA1565681263 | LNPEP | c.2371C= (p.Leu791=) c.2329C= (p.Leu777=) | |
| 5 | g.97015090C>G | CA360508568 | LNPEP | c.2371C>G (p.Leu791Val) c.2329C>G (p.Leu777Val) | |
| 5 | g.97015090C>T | CA445518515 | LNPEP | c.2371C>T (p.Leu791=) c.2329C>T (p.Leu777=) | gnomAD v4 |
| 5 | g.97015091T>A | CA360508570 | LNPEP | c.2372T>A (p.Leu791Gln) c.2330T>A (p.Leu777Gln) | |
| 5 | g.97015091T>C | CA360508572 | LNPEP | c.2372T>C (p.Leu791Pro) c.2330T>C (p.Leu777Pro) | gnomAD v4 |
| 5 | g.97015091T>G | CA360508575 | LNPEP | c.2372T>G (p.Leu791Arg) c.2330T>G (p.Leu777Arg) | |
| 5 | g.97015092G>A | CA3354221 | LNPEP | c.2373G>A (p.Leu791=) c.2331G>A (p.Leu777=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015092G>C | CA445518521 | LNPEP | c.2373G>C (p.Leu791=) c.2331G>C (p.Leu777=) | |
| 5 | g.97015092G= | CA1565681264 | LNPEP | c.2373G= (p.Leu791=) c.2331G= (p.Leu777=) | |
| 5 | g.97015092G>T | CA445518523 | LNPEP | c.2373G>T (p.Leu791=) c.2331G>T (p.Leu777=) | |
| 5 | g.97015093G>A | CA3354222 | LNPEP | c.2374G>A (p.Val792Met) c.2332G>A (p.Val778Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015093G>C | CA360508584 | LNPEP | c.2374G>C (p.Val792Leu) c.2332G>C (p.Val778Leu) | |
| 5 | g.97015093G= | CA1565681265 | LNPEP | c.2374G= (p.Val792=) c.2332G= (p.Val778=) | |
| 5 | g.97015093G>T | CA360508581 | LNPEP | c.2374G>T (p.Val792Leu) c.2332G>T (p.Val778Leu) | ClinVar gnomAD v4 |
| 5 | g.97015094T>A | CA360508589 | LNPEP | c.2375T>A (p.Val792Glu) c.2333T>A (p.Val778Glu) | |
| 5 | g.97015094T>C | CA360508588 | LNPEP | c.2375T>C (p.Val792Ala) c.2333T>C (p.Val778Ala) | |
| 5 | g.97015094T>G | CA360508591 | LNPEP | c.2375T>G (p.Val792Gly) c.2333T>G (p.Val778Gly) | |
| 5 | g.97015095G>A | CA445518530 | LNPEP | c.2376G>A (p.Val792=) c.2334G>A (p.Val778=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.97015095G>C | CA3354223 | LNPEP | c.2376G>C (p.Val792=) c.2334G>C (p.Val778=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015095G= | CA1565681266 | LNPEP | c.2376G= (p.Val792=) c.2334G= (p.Val778=) | |
| 5 | g.97015095G>T | CA445518528 | LNPEP | c.2376G>T (p.Val792=) c.2334G>T (p.Val778=) | |
| 5 | g.97015096del | CA2674699053 | LNPEP | c.2376+1del c.2334+1del | gnomAD v4 |
| 5 | g.97015096G>A | CA360508598 | LNPEP | c.2376+1G>A (n.2376+1G>A) c.2334+1G>A (n.2334+1G>A) | gnomAD v4 |
| 5 | g.97015096G>C | CA360508594 | LNPEP | c.2376+1G>C (n.2376+1G>C) c.2334+1G>C (n.2334+1G>C) | gnomAD v4 |
| 5 | g.97015096G>T | CA360508596 | LNPEP | c.2376+1G>T (n.2376+1G>T) c.2334+1G>T (n.2334+1G>T) | |
| 5 | g.97015097T>A | CA360508599 | LNPEP | c.2376+2T>A (n.2376+2T>A) c.2334+2T>A (n.2334+2T>A) | |
| 5 | g.97015097T>C | CA360508602 | LNPEP | c.2376+2T>C (n.2376+2T>C) c.2334+2T>C (n.2334+2T>C) | |
| 5 | g.97015097T>G | CA360508605 | LNPEP | c.2376+2T>G (n.2376+2T>G) c.2334+2T>G (n.2334+2T>G) | |
| 5 | g.97015097T= | CA1565681267 | LNPEP | c.2376+2T= (n.2376+2T=) c.2334+2T= (n.2334+2T=) | |
| 5 | g.97015098A>G | CA2674699055 | LNPEP | c.2376+3A>G (n.2376+3A>G) c.2334+3A>G (n.2334+3A>G) | gnomAD v4 |
| 5 | g.97015099dup | CA561295819 | LNPEP | c.2376+4dup (n.2376+4dup) c.2334+4dup (n.2334+4dup) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.97015099del | CA2674699054 | LNPEP | c.2376+4del (n.2376+4del) c.2334+4del (n.2334+4del) | gnomAD v4 |
| 5 | g.97015100G= | CA1565681268 | LNPEP | c.2376+5G= (n.2376+5G=) c.2334+5G= (n.2334+5G=) | |
| 5 | g.97015100G>T | CA1079062950 | LNPEP | c.2376+5G>T (n.2376+5G>T) c.2334+5G>T (n.2334+5G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.97015101T>C | CA3354224 | LNPEP | c.2376+6T>C (n.2376+6T>C) c.2334+6T>C (n.2334+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.97015101T= | CA1565681269 | LNPEP | c.2376+6T= (n.2376+6T=) c.2334+6T= (n.2334+6T=) | |
| 5 | g.97015102C>A | CA2674699056 | LNPEP | c.2376+7C>A (n.2376+7C>A) c.2334+7C>A (n.2334+7C>A) | gnomAD v4 |
| 5 | g.97015103T>C | CA2674699057 | LNPEP | c.2376+8T>C (n.2376+8T>C) c.2334+8T>C (n.2334+8T>C) | gnomAD v4 |
| 5 | g.97015104G>A | CA2674699058 | LNPEP | c.2376+9G>A (n.2376+9G>A) c.2334+9G>A (n.2334+9G>A) | gnomAD v4 |
| 5 | g.97015104G>T | CA2674699059 | LNPEP | c.2376+9G>T (n.2376+9G>T) c.2334+9G>T (n.2334+9G>T) | gnomAD v4 |
| 5 | g.97015105C>A | CA2674699060 | LNPEP | c.2376+10C>A (n.2376+10C>A) c.2334+10C>A (n.2334+10C>A) | gnomAD v4 |
| 5 | g.97015105C>T | CA2578369012 | LNPEP | c.2376+10C>T (n.2376+10C>T) c.2334+10C>T (n.2334+10C>T) | gnomAD v4 |
| 5 | g.97015106C>A | CA2674699061 | LNPEP | c.2376+11C>A (n.2376+11C>A) c.2334+11C>A (n.2334+11C>A) | gnomAD v4 |
| 5 | g.97015106C= | CA1565681271 | LNPEP | c.2376+11C= (n.2376+11C=) c.2334+11C= (n.2334+11C=) | |
| 5 | g.97015106C>T | CA123004959 | LNPEP | c.2376+11C>T (n.2376+11C>T) c.2334+11C>T (n.2334+11C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.97015106_97015107delinsCT | CA1565681270 | LNPEP | c.2376+11_2376+12delinsCT (n.2376+11_2376+12delinsCT) c.2334+11_2334+12delinsCT (n.2334+11_2334+12delinsCT) | |
| 5 | g.97015107T>C | CA2674699062 | LNPEP | c.2376+12T>C (n.2376+12T>C) c.2334+12T>C (n.2334+12T>C) | gnomAD v4 |
| 5 | g.97015111dup | CA2578369013 | LNPEP | c.2376+16dup (n.2376+16dup) c.2334+16dup (n.2334+16dup) | gnomAD v4 |
| 5 | g.97015111del | CA3354225 | LNPEP | c.2376+16del (n.2376+16del) c.2334+16del (n.2334+16del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.97015108T>C | CA2674699063 | LNPEP | c.2376+13T>C (n.2376+13T>C) c.2334+13T>C (n.2334+13T>C) | gnomAD v4 |
| 5 | g.97015111T>G | CA2674699064 | LNPEP | c.2376+16T>G (n.2376+16T>G) c.2334+16T>G (n.2334+16T>G) | gnomAD v4 |
| 5 | g.97015112G>A | CA2674699065 | LNPEP | c.2376+17G>A (n.2376+17G>A) c.2334+17G>A (n.2334+17G>A) | gnomAD v4 |
| 5 | g.97015112G= | CA1565681272 | LNPEP | c.2376+17G= (n.2376+17G=) c.2334+17G= (n.2334+17G=) | |
| 5 | g.97015112G>T | CA1565681273 | LNPEP | c.2376+17G>T (n.2376+17G>T) c.2334+17G>T (n.2334+17G>T) | dbSNP |