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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 |
|---|---|---|---|---|---|
| 7 | g.151186849T>A | CA458881426 | ASB10 | c.282A>T (p.Arg94=) c.272-190A>T (n.272-190A>T) c.*326A>T (n.*326A>T) c.417A>T (p.Arg139=) | |
| 7 | g.151186849T>C | CA458881427 | ASB10 | c.282A>G (p.Arg94=) c.272-190A>G (n.272-190A>G) c.*326A>G (n.*326A>G) c.417A>G (p.Arg139=) | |
| 7 | g.151186849T>G | CA458881428 | ASB10 | c.282A>C (p.Arg94=) c.272-190A>C (n.272-190A>C) c.*326A>C (n.*326A>C) c.417A>C (p.Arg139=) | |
| 7 | g.151186849_151186850del | CA2685657626 | ASB10 | c.281_282del (p.Arg94LeufsTer?) c.272-191_272-190del (n.272-191_272-190del) c.*325_*326del (n.*325_*326del) c.416_417del (p.Arg139LeufsTer?) | gnomAD v4 |
| 7 | g.151186850C>A | CA370037256 | ASB10 | c.281G>T (p.Arg94Leu) c.272-191G>T (n.272-191G>T) c.*325G>T (n.*325G>T) c.416G>T (p.Arg139Leu) | |
| 7 | g.151186850C= | CA1752545573 | ASB10 | c.281G= (p.Arg94=) c.272-191G= (n.272-191G=) c.*325G= (n.*325G=) c.416G= (p.Arg139=) | |
| 7 | g.151186850C>G | CA370037259 | ASB10 | c.281G>C (p.Arg94Pro) c.272-191G>C (n.272-191G>C) c.*325G>C (n.*325G>C) c.416G>C (p.Arg139Pro) | |
| 7 | g.151186850C>T | CA150530 | ASB10 | c.281G>A (p.Arg94Gln) c.272-191G>A (n.272-191G>A) c.*325G>A (n.*325G>A) c.416G>A (p.Arg139Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.151186851G>A | CA4573950 | ASB10 | c.280C>T (p.Arg94Ter) c.272-192C>T (n.272-192C>T) c.*324C>T (n.*324C>T) c.415C>T (p.Arg139Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.151186851G>C | CA370037264 | ASB10 | c.280C>G (p.Arg94Gly) c.272-192C>G (n.272-192C>G) c.*324C>G (n.*324C>G) c.415C>G (p.Arg139Gly) | |
| 7 | g.151186851G= | CA1752545574 | ASB10 | c.280C= (p.Arg94=) c.272-192C= (n.272-192C=) c.*324C= (n.*324C=) c.415C= (p.Arg139=) | |
| 7 | g.151186851G>T | CA458881430 | ASB10 | c.280C>A (p.Arg94=) c.272-192C>A (n.272-192C>A) c.*324C>A (n.*324C>A) c.415C>A (p.Arg139=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.151186852C>A | CA370037265 | ASB10 | c.279G>T (p.Glu93Asp) c.272-193G>T (n.272-193G>T) c.*323G>T (n.*323G>T) c.414G>T (p.Glu138Asp) | |
| 7 | g.151186852C= | CA1752545575 | ASB10 | c.279G= (p.Glu93=) c.272-193G= (n.272-193G=) c.*323G= (n.*323G=) c.414G= (p.Glu138=) | |
| 7 | g.151186852C>G | CA370037266 | ASB10 | c.279G>C (p.Glu93Asp) c.272-193G>C (n.272-193G>C) c.*323G>C (n.*323G>C) c.414G>C (p.Glu138Asp) | |
| 7 | g.151186852C>T | CA4573951 | ASB10 | c.279G>A (p.Glu93=) c.272-193G>A (n.272-193G>A) c.*323G>A (n.*323G>A) c.414G>A (p.Glu138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186853T>A | CA370037268 | ASB10 | c.278A>T (p.Glu93Val) c.272-194A>T (n.272-194A>T) c.*322A>T (n.*322A>T) c.413A>T (p.Glu138Val) | |
| 7 | g.151186853T>C | CA370037273 | ASB10 | c.278A>G (p.Glu93Gly) c.272-194A>G (n.272-194A>G) c.*322A>G (n.*322A>G) c.413A>G (p.Glu138Gly) | |
| 7 | g.151186853T>G | CA370037272 | ASB10 | c.278A>C (p.Glu93Ala) c.272-194A>C (n.272-194A>C) c.*322A>C (n.*322A>C) c.413A>C (p.Glu138Ala) | dbSNP |
| 7 | g.151186853T= | CA1752545576 | ASB10 | c.278A= (p.Glu93=) c.272-194A= (n.272-194A=) c.*322A= (n.*322A=) c.413A= (p.Glu138=) | |
| 7 | g.151186854C>A | CA370037275 | ASB10 | c.277G>T (p.Glu93Ter) c.272-195G>T (n.272-195G>T) c.*321G>T (n.*321G>T) c.412G>T (p.Glu138Ter) | gnomAD v4 |
| 7 | g.151186854C>G | CA370037277 | ASB10 | c.277G>C (p.Glu93Gln) c.272-195G>C (n.272-195G>C) c.*321G>C (n.*321G>C) c.412G>C (p.Glu138Gln) | |
| 7 | g.151186854C>T | CA370037279 | ASB10 | c.277G>A (p.Glu93Lys) c.272-195G>A (n.272-195G>A) c.*321G>A (n.*321G>A) c.412G>A (p.Glu138Lys) | |
| 7 | g.151186855T>A | CA458881434 | ASB10 | c.276A>T (p.Pro92=) c.272-196A>T (n.272-196A>T) c.*320A>T (n.*320A>T) c.411A>T (p.Pro137=) | |
| 7 | g.151186855T>C | CA458881436 | ASB10 | c.276A>G (p.Pro92=) c.272-196A>G (n.272-196A>G) c.*320A>G (n.*320A>G) c.411A>G (p.Pro137=) | |
| 7 | g.151186855T>G | CA458881435 | ASB10 | c.276A>C (p.Pro92=) c.272-196A>C (n.272-196A>C) c.*320A>C (n.*320A>C) c.411A>C (p.Pro137=) | |
| 7 | g.151186856G>A | CA370037280 | ASB10 | c.275C>T (p.Pro92Leu) c.272-197C>T (n.272-197C>T) c.*319C>T (n.*319C>T) c.410C>T (p.Pro137Leu) | dbSNP |
| 7 | g.151186856G>C | CA370037283 | ASB10 | c.275C>G (p.Pro92Arg) c.272-197C>G (n.272-197C>G) c.*319C>G (n.*319C>G) c.410C>G (p.Pro137Arg) | |
| 7 | g.151186856G= | CA1752545577 | ASB10 | c.275C= (p.Pro92=) c.272-197C= (n.272-197C=) c.*319C= (n.*319C=) c.410C= (p.Pro137=) | |
| 7 | g.151186856G>T | CA370037285 | ASB10 | c.275C>A (p.Pro92Gln) c.272-197C>A (n.272-197C>A) c.*319C>A (n.*319C>A) c.410C>A (p.Pro137Gln) | |
| 7 | g.151186856_151186857delinsAA | CA645547260 | ASB10 | c.274_275delinsTT (p.Pro92Leu) c.272-198_272-197delinsTT (n.272-198_272-197delinsTT) c.*318_*319delinsTT (n.*318_*319delinsTT) c.409_410delinsTT (p.Pro137Leu) | COSMIC COSMIC COSMIC |
| 7 | g.151186857G>A | CA370037287 | ASB10 | c.274C>T (p.Pro92Ser) c.272-198C>T (n.272-198C>T) c.*318C>T (n.*318C>T) c.409C>T (p.Pro137Ser) | |
| 7 | g.151186857G>C | CA370037292 | ASB10 | c.274C>G (p.Pro92Ala) c.272-198C>G (n.272-198C>G) c.*318C>G (n.*318C>G) c.409C>G (p.Pro137Ala) | |
| 7 | g.151186857G>T | CA370037294 | ASB10 | c.274C>A (p.Pro92Thr) c.272-198C>A (n.272-198C>A) c.*318C>A (n.*318C>A) c.409C>A (p.Pro137Thr) | |
| 7 | g.151186858G>A | CA458881437 | ASB10 | c.273C>T (p.Asp91=) c.272-199C>T (n.272-199C>T) c.*317C>T (n.*317C>T) c.408C>T (p.Asp136=) | |
| 7 | g.151186858G>C | CA370037295 | ASB10 | c.273C>G (p.Asp91Glu) c.272-199C>G (n.272-199C>G) c.*317C>G (n.*317C>G) c.408C>G (p.Asp136Glu) | |
| 7 | g.151186858G= | CA1752545578 | ASB10 | c.273C= (p.Asp91=) c.272-199C= (n.272-199C=) c.*317C= (n.*317C=) c.408C= (p.Asp136=) | |
| 7 | g.151186858G>T | CA370037297 | ASB10 | c.273C>A (p.Asp91Glu) c.272-199C>A (n.272-199C>A) c.*317C>A (n.*317C>A) c.408C>A (p.Asp136Glu) | dbSNP |
| 7 | g.151186859T>A | CA370037303 | ASB10 | c.272A>T (p.Asp91Val) c.272-200A>T (n.272-200A>T) c.*316A>T (n.*316A>T) c.407A>T (p.Asp136Val) | |
| 7 | g.151186859T>C | CA370037302 | ASB10 | c.272A>G (p.Asp91Gly) c.272-200A>G (n.272-200A>G) c.*316A>G (n.*316A>G) c.407A>G (p.Asp136Gly) | gnomAD v4 |
| 7 | g.151186859T>G | CA370037300 | ASB10 | c.272A>C (p.Asp91Ala) c.272-200A>C (n.272-200A>C) c.*316A>C (n.*316A>C) c.407A>C (p.Asp136Ala) | |
| 7 | g.151186860C>A | CA150468 | ASB10 | c.271G>T (p.Asp91Tyr) c.272-201G>T (n.272-201G>T) c.*315G>T (n.*315G>T) c.406G>T (p.Asp136Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186860C= | CA1752545579 | ASB10 | c.271G= (p.Asp91=) c.272-201G= (n.272-201G=) c.*315G= (n.*315G=) c.406G= (p.Asp136=) | |
| 7 | g.151186860C>G | CA370037307 | ASB10 | c.271G>C (p.Asp91His) c.272-201G>C (n.272-201G>C) c.*315G>C (n.*315G>C) c.406G>C (p.Asp136His) | |
| 7 | g.151186860C>T | CA169125766 | ASB10 | c.271G>A (p.Asp91Asn) c.272-201G>A (n.272-201G>A) c.*315G>A (n.*315G>A) c.406G>A (p.Asp136Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.151186861G>A | CA4573952 | ASB10 | c.270C>T (p.Ser90=) c.272-202C>T (n.272-202C>T) c.*314C>T (n.*314C>T) c.405C>T (p.Ser135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186861G>C | CA370037312 | ASB10 | c.270C>G (p.Ser90Arg) c.272-202C>G (n.272-202C>G) c.*314C>G (n.*314C>G) c.405C>G (p.Ser135Arg) | |
| 7 | g.151186861G= | CA1752545580 | ASB10 | c.270C= (p.Ser90=) c.272-202C= (n.272-202C=) c.*314C= (n.*314C=) c.405C= (p.Ser135=) | |
| 7 | g.151186861G>T | CA370037315 | ASB10 | c.270C>A (p.Ser90Arg) c.272-202C>A (n.272-202C>A) c.*314C>A (n.*314C>A) c.405C>A (p.Ser135Arg) | dbSNP gnomAD v4 |
| 7 | g.151186862C>A | CA370037317 | ASB10 | c.269G>T (p.Ser90Ile) c.272-203G>T (n.272-203G>T) c.*313G>T (n.*313G>T) c.404G>T (p.Ser135Ile) | |
| 7 | g.151186862C>G | CA370037320 | ASB10 | c.269G>C (p.Ser90Thr) c.272-203G>C (n.272-203G>C) c.*313G>C (n.*313G>C) c.404G>C (p.Ser135Thr) | |
| 7 | g.151186862C>T | CA370037321 | ASB10 | c.269G>A (p.Ser90Asn) c.272-203G>A (n.272-203G>A) c.*313G>A (n.*313G>A) c.404G>A (p.Ser135Asn) | |
| 7 | g.151186863T>A | CA370037323 | ASB10 | c.268A>T (p.Ser90Cys) c.272-204A>T (n.272-204A>T) c.*312A>T (n.*312A>T) c.403A>T (p.Ser135Cys) | |
| 7 | g.151186863T>C | CA370037325 | ASB10 | c.268A>G (p.Ser90Gly) c.272-204A>G (n.272-204A>G) c.*312A>G (n.*312A>G) c.403A>G (p.Ser135Gly) | |
| 7 | g.151186863T>G | CA370037326 | ASB10 | c.268A>C (p.Ser90Arg) c.272-204A>C (n.272-204A>C) c.*312A>C (n.*312A>C) c.403A>C (p.Ser135Arg) | |
| 7 | g.151186864G>A | CA458881444 | ASB10 | c.267C>T (p.Thr89=) c.272-205C>T (n.272-205C>T) c.*311C>T (n.*311C>T) c.402C>T (p.Thr134=) | |
| 7 | g.151186864G>C | CA458881445 | ASB10 | c.267C>G (p.Thr89=) c.272-205C>G (n.272-205C>G) c.*311C>G (n.*311C>G) c.402C>G (p.Thr134=) | |
| 7 | g.151186864G>T | CA458881446 | ASB10 | c.267C>A (p.Thr89=) c.272-205C>A (n.272-205C>A) c.*311C>A (n.*311C>A) c.402C>A (p.Thr134=) | |
| 7 | g.151186865G>A | CA370037330 | ASB10 | c.266C>T (p.Thr89Ile) c.272-206C>T (n.272-206C>T) c.*310C>T (n.*310C>T) c.401C>T (p.Thr134Ile) | |
| 7 | g.151186865G>C | CA370037341 | ASB10 | c.266C>G (p.Thr89Ser) c.272-206C>G (n.272-206C>G) c.*310C>G (n.*310C>G) c.401C>G (p.Thr134Ser) | |
| 7 | g.151186865G>T | CA370037328 | ASB10 | c.266C>A (p.Thr89Asn) c.272-206C>A (n.272-206C>A) c.*310C>A (n.*310C>A) c.401C>A (p.Thr134Asn) | |
| 7 | g.151186866T>A | CA370037344 | ASB10 | c.265A>T (p.Thr89Ser) c.272-207A>T (n.272-207A>T) c.*309A>T (n.*309A>T) c.400A>T (p.Thr134Ser) | |
| 7 | g.151186866T>C | CA370037342 | ASB10 | c.265A>G (p.Thr89Ala) c.272-207A>G (n.272-207A>G) c.*309A>G (n.*309A>G) c.400A>G (p.Thr134Ala) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.151186866T>G | CA370037343 | ASB10 | c.265A>C (p.Thr89Pro) c.272-207A>C (n.272-207A>C) c.*309A>C (n.*309A>C) c.400A>C (p.Thr134Pro) | |
| 7 | g.151186867A= | CA1752545581 | ASB10 | c.264T= (p.Asp88=) c.272-208T= (n.272-208T=) c.*308T= (n.*308T=) c.399T= (p.Asp133=) | |
| 7 | g.151186867A>C | CA370037346 | ASB10 | c.264T>G (p.Asp88Glu) c.272-208T>G (n.272-208T>G) c.*308T>G (n.*308T>G) c.399T>G (p.Asp133Glu) | |
| 7 | g.151186867A>G | CA458881451 | ASB10 | c.264T>C (p.Asp88=) c.272-208T>C (n.272-208T>C) c.*308T>C (n.*308T>C) c.399T>C (p.Asp133=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.151186867A>T | CA370037348 | ASB10 | c.264T>A (p.Asp88Glu) c.272-208T>A (n.272-208T>A) c.*308T>A (n.*308T>A) c.399T>A (p.Asp133Glu) | |
| 7 | g.151186868T>A | CA150528 | ASB10 | c.263A>T (p.Asp88Val) c.272-209A>T (n.272-209A>T) c.*307A>T (n.*307A>T) c.398A>T (p.Asp133Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186868T>C | CA370037350 | ASB10 | c.263A>G (p.Asp88Gly) c.272-209A>G (n.272-209A>G) c.*307A>G (n.*307A>G) c.398A>G (p.Asp133Gly) | |
| 7 | g.151186868T>G | CA370037351 | ASB10 | c.263A>C (p.Asp88Ala) c.272-209A>C (n.272-209A>C) c.*307A>C (n.*307A>C) c.398A>C (p.Asp133Ala) | |
| 7 | g.151186868T= | CA1752545582 | ASB10 | c.263A= (p.Asp88=) c.272-209A= (n.272-209A=) c.*307A= (n.*307A=) c.398A= (p.Asp133=) | |
| 7 | g.151186869C>A | CA370037352 | ASB10 | c.262G>T (p.Asp88Tyr) c.272-210G>T (n.272-210G>T) c.*306G>T (n.*306G>T) c.397G>T (p.Asp133Tyr) | |
| 7 | g.151186869C= | CA1752545583 | ASB10 | c.262G= (p.Asp88=) c.272-210G= (n.272-210G=) c.*306G= (n.*306G=) c.397G= (p.Asp133=) | |
| 7 | g.151186869C>G | CA370037353 | ASB10 | c.262G>C (p.Asp88His) c.272-210G>C (n.272-210G>C) c.*306G>C (n.*306G>C) c.397G>C (p.Asp133His) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.151186869C>T | CA370037354 | ASB10 | c.262G>A (p.Asp88Asn) c.272-210G>A (n.272-210G>A) c.*306G>A (n.*306G>A) c.397G>A (p.Asp133Asn) | |
| 7 | g.151186869_151186871delinsCAA | CA1752545584 | ASB10 | c.260_262delinsTTG (p.Phe87=) c.272-212_272-210delinsTTG (n.272-212_272-210delinsTTG) c.*304_*306delinsTTG (n.*304_*306delinsTTG) c.395_397delinsTTG (p.Phe132=) | |
| 7 | g.151186870A>C | CA370037356 | ASB10 | c.261T>G (p.Phe87Leu) c.272-211T>G (n.272-211T>G) c.*305T>G (n.*305T>G) c.396T>G (p.Phe132Leu) | |
| 7 | g.151186870A>G | CA458881456 | ASB10 | c.261T>C (p.Phe87=) c.272-211T>C (n.272-211T>C) c.*305T>C (n.*305T>C) c.396T>C (p.Phe132=) | |
| 7 | g.151186870A>T | CA370037358 | ASB10 | c.261T>A (p.Phe87Leu) c.272-211T>A (n.272-211T>A) c.*305T>A (n.*305T>A) c.396T>A (p.Phe132Leu) | |
| 7 | g.151186872dup | CA2840459447 | ASB10 | c.261dup (p.Asp88Ter) c.272-211dup (n.272-211dup) c.*305dup (n.*305dup) c.396dup (p.Asp133Ter) | |
| 7 | g.151186871_151186872del | CA1752545585 | ASB10 | c.260_261del (p.Phe87Ter) c.272-212_272-211del (n.272-212_272-211del) c.*304_*305del (n.*304_*305del) c.395_396del (p.Phe132Ter) | dbSNP |
| 7 | g.151186871A>C | CA370037364 | ASB10 | c.260T>G (p.Phe87Cys) c.272-212T>G (n.272-212T>G) c.*304T>G (n.*304T>G) c.395T>G (p.Phe132Cys) | |
| 7 | g.151186871A>G | CA370037367 | ASB10 | c.260T>C (p.Phe87Ser) c.272-212T>C (n.272-212T>C) c.*304T>C (n.*304T>C) c.395T>C (p.Phe132Ser) | |
| 7 | g.151186871A>T | CA370037361 | ASB10 | c.260T>A (p.Phe87Tyr) c.272-212T>A (n.272-212T>A) c.*304T>A (n.*304T>A) c.395T>A (p.Phe132Tyr) | |
| 7 | g.151186872A= | CA1752545586 | ASB10 | c.259T= (p.Phe87=) c.272-213T= (n.272-213T=) c.*303T= (n.*303T=) c.394T= (p.Phe132=) | |
| 7 | g.151186872A>C | CA370037370 | ASB10 | c.259T>G (p.Phe87Val) c.272-213T>G (n.272-213T>G) c.*303T>G (n.*303T>G) c.394T>G (p.Phe132Val) | |
| 7 | g.151186872A>G | CA169125787 | ASB10 | c.259T>C (p.Phe87Leu) c.272-213T>C (n.272-213T>C) c.*303T>C (n.*303T>C) c.394T>C (p.Phe132Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186872A>T | CA370037372 | ASB10 | c.259T>A (p.Phe87Ile) c.272-213T>A (n.272-213T>A) c.*303T>A (n.*303T>A) c.394T>A (p.Phe132Ile) | |
| 7 | g.151186873G>A | CA458881460 | ASB10 | c.258C>T (p.Val86=) c.272-214C>T (n.272-214C>T) c.*302C>T (n.*302C>T) c.393C>T (p.Val131=) | |
| 7 | g.151186873G>C | CA458881461 | ASB10 | c.258C>G (p.Val86=) c.272-214C>G (n.272-214C>G) c.*302C>G (n.*302C>G) c.393C>G (p.Val131=) | |
| 7 | g.151186873G>T | CA458881462 | ASB10 | c.258C>A (p.Val86=) c.272-214C>A (n.272-214C>A) c.*302C>A (n.*302C>A) c.393C>A (p.Val131=) | |
| 7 | g.151186874A= | CA1752545587 | ASB10 | c.257T= (p.Val86=) c.272-215T= (n.272-215T=) c.*301T= (n.*301T=) c.392T= (p.Val131=) | |
| 7 | g.151186874A>C | CA370037374 | ASB10 | c.257T>G (p.Val86Gly) c.272-215T>G (n.272-215T>G) c.*301T>G (n.*301T>G) c.392T>G (p.Val131Gly) | gnomAD v4 |
| 7 | g.151186874A>G | CA4573953 | ASB10 | c.257T>C (p.Val86Ala) c.272-215T>C (n.272-215T>C) c.*301T>C (n.*301T>C) c.392T>C (p.Val131Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186874A>T | CA370037376 | ASB10 | c.257T>A (p.Val86Asp) c.272-215T>A (n.272-215T>A) c.*301T>A (n.*301T>A) c.392T>A (p.Val131Asp) | |
| 7 | g.151186875C>A | CA370037378 | ASB10 | c.256G>T (p.Val86Phe) c.272-216G>T (n.272-216G>T) c.*300G>T (n.*300G>T) c.391G>T (p.Val131Phe) | gnomAD v4 |
| 7 | g.151186875C= | CA1752545588 | ASB10 | c.256G= (p.Val86=) c.272-216G= (n.272-216G=) c.*300G= (n.*300G=) c.391G= (p.Val131=) | |
| 7 | g.151186875C>G | CA370037381 | ASB10 | c.256G>C (p.Val86Leu) c.272-216G>C (n.272-216G>C) c.*300G>C (n.*300G>C) c.391G>C (p.Val131Leu) | gnomAD v4 |
| 7 | g.151186875C>T | CA4573954 | ASB10 | c.256G>A (p.Val86Ile) c.272-216G>A (n.272-216G>A) c.*300G>A (n.*300G>A) c.391G>A (p.Val131Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.151186876G>A | CA4573955 | ASB10 | c.255C>T (p.Ser85=) c.272-217C>T (n.272-217C>T) c.*299C>T (n.*299C>T) c.390C>T (p.Ser130=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.151186876G>C | CA458881464 | ASB10 | c.255C>G (p.Ser85=) c.272-217C>G (n.272-217C>G) c.*299C>G (n.*299C>G) c.390C>G (p.Ser130=) | dbSNP gnomAD v4 |
| 7 | g.151186876G= | CA1752545589 | ASB10 | c.255C= (p.Ser85=) c.272-217C= (n.272-217C=) c.*299C= (n.*299C=) c.390C= (p.Ser130=) | |
| 7 | g.151186876G>T | CA458881465 | ASB10 | c.255C>A (p.Ser85=) c.272-217C>A (n.272-217C>A) c.*299C>A (n.*299C>A) c.390C>A (p.Ser130=) | |
| 7 | g.151186877G>A | CA370037385 | ASB10 | c.254C>T (p.Ser85Phe) c.272-218C>T (n.272-218C>T) c.*298C>T (n.*298C>T) c.389C>T (p.Ser130Phe) | dbSNP |
| 7 | g.151186877G>C | CA370037386 | ASB10 | c.254C>G (p.Ser85Cys) c.272-218C>G (n.272-218C>G) c.*298C>G (n.*298C>G) c.389C>G (p.Ser130Cys) | |
| 7 | g.151186877G= | CA1752545590 | ASB10 | c.254C= (p.Ser85=) c.272-218C= (n.272-218C=) c.*298C= (n.*298C=) c.389C= (p.Ser130=) | |
| 7 | g.151186877G>T | CA370037388 | ASB10 | c.254C>A (p.Ser85Tyr) c.272-218C>A (n.272-218C>A) c.*298C>A (n.*298C>A) c.389C>A (p.Ser130Tyr) | |
| 7 | g.151186878A>C | CA370037396 | ASB10 | c.253T>G (p.Ser85Ala) c.272-219T>G (n.272-219T>G) c.*297T>G (n.*297T>G) c.388T>G (p.Ser130Ala) | |
| 7 | g.151186878A>G | CA370037393 | ASB10 | c.253T>C (p.Ser85Pro) c.272-219T>C (n.272-219T>C) c.*297T>C (n.*297T>C) c.388T>C (p.Ser130Pro) | |
| 7 | g.151186878A>T | CA370037390 | ASB10 | c.253T>A (p.Ser85Thr) c.272-219T>A (n.272-219T>A) c.*297T>A (n.*297T>A) c.388T>A (p.Ser130Thr) | |
| 7 | g.151186879A= | CA1752545591 | ASB10 | c.252T= (p.Asp84=) c.272-220T= (n.272-220T=) c.*296T= (n.*296T=) c.387T= (p.Asp129=) | |
| 7 | g.151186879A>C | CA370037398 | ASB10 | c.252T>G (p.Asp84Glu) c.272-220T>G (n.272-220T>G) c.*296T>G (n.*296T>G) c.387T>G (p.Asp129Glu) | |
| 7 | g.151186879A>G | CA4573956 | ASB10 | c.252T>C (p.Asp84=) c.272-220T>C (n.272-220T>C) c.*296T>C (n.*296T>C) c.387T>C (p.Asp129=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186879A>T | CA370037402 | ASB10 | c.252T>A (p.Asp84Glu) c.272-220T>A (n.272-220T>A) c.*296T>A (n.*296T>A) c.387T>A (p.Asp129Glu) | |
| 7 | g.151186880T>A | CA370037405 | ASB10 | c.251A>T (p.Asp84Val) c.272-221A>T (n.272-221A>T) c.*295A>T (n.*295A>T) c.386A>T (p.Asp129Val) | |
| 7 | g.151186880T>C | CA370037407 | ASB10 | c.251A>G (p.Asp84Gly) c.272-221A>G (n.272-221A>G) c.*295A>G (n.*295A>G) c.386A>G (p.Asp129Gly) | gnomAD v4 |
| 7 | g.151186880T>G | CA370037409 | ASB10 | c.251A>C (p.Asp84Ala) c.272-221A>C (n.272-221A>C) c.*295A>C (n.*295A>C) c.386A>C (p.Asp129Ala) | |
| 7 | g.151186881C>A | CA370037411 | ASB10 | c.250G>T (p.Asp84Tyr) c.272-222G>T (n.272-222G>T) c.*294G>T (n.*294G>T) c.385G>T (p.Asp129Tyr) | |
| 7 | g.151186881C>G | CA370037412 | ASB10 | c.250G>C (p.Asp84His) c.272-222G>C (n.272-222G>C) c.*294G>C (n.*294G>C) c.385G>C (p.Asp129His) | |
| 7 | g.151186881C>T | CA370037422 | ASB10 | c.250G>A (p.Asp84Asn) c.272-222G>A (n.272-222G>A) c.*294G>A (n.*294G>A) c.385G>A (p.Asp129Asn) | COSMIC COSMIC COSMIC |
| 7 | g.151186882A= | CA1752545592 | ASB10 | c.249T= (p.Pro83=) c.272-223T= (n.272-223T=) c.*293T= (n.*293T=) c.384T= (p.Pro128=) | |
| 7 | g.151186882A>C | CA458881475 | ASB10 | c.249T>G (p.Pro83=) c.272-223T>G (n.272-223T>G) c.*293T>G (n.*293T>G) c.384T>G (p.Pro128=) | dbSNP |
| 7 | g.151186882A>G | CA458881474 | ASB10 | c.249T>C (p.Pro83=) c.272-223T>C (n.272-223T>C) c.*293T>C (n.*293T>C) c.384T>C (p.Pro128=) | |
| 7 | g.151186882A>T | CA458881473 | ASB10 | c.249T>A (p.Pro83=) c.272-223T>A (n.272-223T>A) c.*293T>A (n.*293T>A) c.384T>A (p.Pro128=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.151186883G>A | CA370037424 | ASB10 | c.248C>T (p.Pro83Leu) c.272-224C>T (n.272-224C>T) c.*292C>T (n.*292C>T) c.383C>T (p.Pro128Leu) | |
| 7 | g.151186883G>C | CA370037426 | ASB10 | c.248C>G (p.Pro83Arg) c.272-224C>G (n.272-224C>G) c.*292C>G (n.*292C>G) c.383C>G (p.Pro128Arg) | |
| 7 | g.151186883G>T | CA370037431 | ASB10 | c.248C>A (p.Pro83His) c.272-224C>A (n.272-224C>A) c.*292C>A (n.*292C>A) c.383C>A (p.Pro128His) | |
| 7 | g.151186884G>A | CA370037436 | ASB10 | c.247C>T (p.Pro83Ser) c.272-225C>T (n.272-225C>T) c.*291C>T (n.*291C>T) c.382C>T (p.Pro128Ser) | |
| 7 | g.151186884G>C | CA370037438 | ASB10 | c.247C>G (p.Pro83Ala) c.272-225C>G (n.272-225C>G) c.*291C>G (n.*291C>G) c.382C>G (p.Pro128Ala) | |
| 7 | g.151186884G>T | CA370037434 | ASB10 | c.247C>A (p.Pro83Thr) c.272-225C>A (n.272-225C>A) c.*291C>A (n.*291C>A) c.382C>A (p.Pro128Thr) | |
| 7 | g.151186885A>C | CA458881478 | ASB10 | c.246T>G (p.Ala82=) c.272-226T>G (n.272-226T>G) c.*290T>G (n.*290T>G) c.381T>G (p.Ala127=) | |
| 7 | g.151186885A>G | CA458881479 | ASB10 | c.246T>C (p.Ala82=) c.272-226T>C (n.272-226T>C) c.*290T>C (n.*290T>C) c.381T>C (p.Ala127=) | |
| 7 | g.151186885A>T | CA458881480 | ASB10 | c.246T>A (p.Ala82=) c.272-226T>A (n.272-226T>A) c.*290T>A (n.*290T>A) c.381T>A (p.Ala127=) | |
| 7 | g.151186886G>A | CA370037441 | ASB10 | c.245C>T (p.Ala82Val) c.272-227C>T (n.272-227C>T) c.*289C>T (n.*289C>T) c.380C>T (p.Ala127Val) | gnomAD v4 |
| 7 | g.151186886G>C | CA370037446 | ASB10 | c.245C>G (p.Ala82Gly) c.272-227C>G (n.272-227C>G) c.*289C>G (n.*289C>G) c.380C>G (p.Ala127Gly) | |
| 7 | g.151186886G= | CA1752545593 | ASB10 | c.245C= (p.Ala82=) c.272-227C= (n.272-227C=) c.*289C= (n.*289C=) c.380C= (p.Ala127=) | |
| 7 | g.151186886G>T | CA370037447 | ASB10 | c.245C>A (p.Ala82Asp) c.272-227C>A (n.272-227C>A) c.*289C>A (n.*289C>A) c.380C>A (p.Ala127Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186887C>A | CA370037448 | ASB10 | c.244G>T (p.Ala82Ser) c.272-228G>T (n.272-228G>T) c.*288G>T (n.*288G>T) c.379G>T (p.Ala127Ser) | |
| 7 | g.151186887C= | CA1752545594 | ASB10 | c.244G= (p.Ala82=) c.272-228G= (n.272-228G=) c.*288G= (n.*288G=) c.379G= (p.Ala127=) | |
| 7 | g.151186887C>G | CA370037450 | ASB10 | c.244G>C (p.Ala82Pro) c.272-228G>C (n.272-228G>C) c.*288G>C (n.*288G>C) c.379G>C (p.Ala127Pro) | |
| 7 | g.151186887C>T | CA169125802 | ASB10 | c.244G>A (p.Ala82Thr) c.272-228G>A (n.272-228G>A) c.*288G>A (n.*288G>A) c.379G>A (p.Ala127Thr) | dbSNP gnomAD v4 |
| 7 | g.151186888C>A | CA458881482 | ASB10 | c.243G>T (p.Leu81=) c.272-229G>T (n.272-229G>T) c.*287G>T (n.*287G>T) c.378G>T (p.Leu126=) | |
| 7 | g.151186888C>G | CA458881484 | ASB10 | c.243G>C (p.Leu81=) c.272-229G>C (n.272-229G>C) c.*287G>C (n.*287G>C) c.378G>C (p.Leu126=) | |
| 7 | g.151186888C>T | CA458881483 | ASB10 | c.243G>A (p.Leu81=) c.272-229G>A (n.272-229G>A) c.*287G>A (n.*287G>A) c.378G>A (p.Leu126=) | |
| 7 | g.151186889A= | CA1752545595 | ASB10 | c.242T= (p.Leu81=) c.272-230T= (n.272-230T=) c.*286T= (n.*286T=) c.377T= (p.Leu126=) | |
| 7 | g.151186889A>C | CA370037451 | ASB10 | c.242T>G (p.Leu81Arg) c.272-230T>G (n.272-230T>G) c.*286T>G (n.*286T>G) c.377T>G (p.Leu126Arg) | |
| 7 | g.151186889A>G | CA370037453 | ASB10 | c.242T>C (p.Leu81Pro) c.272-230T>C (n.272-230T>C) c.*286T>C (n.*286T>C) c.377T>C (p.Leu126Pro) | gnomAD v4 |
| 7 | g.151186889A>T | CA370037452 | ASB10 | c.242T>A (p.Leu81Gln) c.272-230T>A (n.272-230T>A) c.*286T>A (n.*286T>A) c.377T>A (p.Leu126Gln) | |
| 7 | g.151186890G>A | CA458881488 | ASB10 | c.241C>T (p.Leu81=) c.272-231C>T (n.272-231C>T) c.*285C>T (n.*285C>T) c.376C>T (p.Leu126=) | |
| 7 | g.151186890G>C | CA370037454 | ASB10 | c.241C>G (p.Leu81Val) c.272-231C>G (n.272-231C>G) c.*285C>G (n.*285C>G) c.376C>G (p.Leu126Val) | |
| 7 | g.151186890G>T | CA370037455 | ASB10 | c.241C>A (p.Leu81Met) c.272-231C>A (n.272-231C>A) c.*285C>A (n.*285C>A) c.376C>A (p.Leu126Met) | |
| 7 | g.151186891dup | CA579077263 | ASB10 | c.241dup (p.Leu81ProfsTer4) c.272-231dup (n.272-231dup) c.*285dup (n.*285dup) c.376dup (p.Leu126ProfsTer4) | dbSNP gnomAD v2 |
| 7 | g.151186891G>A | CA458881489 | ASB10 | c.240C>T (p.Gly80=) c.272-232C>T (n.272-232C>T) c.*284C>T (n.*284C>T) c.375C>T (p.Gly125=) | |
| 7 | g.151186891G>C | CA458881490 | ASB10 | c.240C>G (p.Gly80=) c.272-232C>G (n.272-232C>G) c.*284C>G (n.*284C>G) c.375C>G (p.Gly125=) | |
| 7 | g.151186891G>T | CA458881491 | ASB10 | c.240C>A (p.Gly80=) c.272-232C>A (n.272-232C>A) c.*284C>A (n.*284C>A) c.375C>A (p.Gly125=) | |
| 7 | g.151186892C>A | CA370037456 | ASB10 | c.239G>T (p.Gly80Val) c.272-233G>T (n.272-233G>T) c.*283G>T (n.*283G>T) c.374G>T (p.Gly125Val) | ClinVar gnomAD v4 |
| 7 | g.151186892C>G | CA370037457 | ASB10 | c.239G>C (p.Gly80Ala) c.272-233G>C (n.272-233G>C) c.*283G>C (n.*283G>C) c.374G>C (p.Gly125Ala) | |
| 7 | g.151186892C>T | CA370037458 | ASB10 | c.239G>A (p.Gly80Asp) c.272-233G>A (n.272-233G>A) c.*283G>A (n.*283G>A) c.374G>A (p.Gly125Asp) | |
| 7 | g.151186893C>A | CA370037460 | ASB10 | c.238G>T (p.Gly80Cys) c.272-234G>T (n.272-234G>T) c.*282G>T (n.*282G>T) c.373G>T (p.Gly125Cys) | |
| 7 | g.151186893C>G | CA370037462 | ASB10 | c.238G>C (p.Gly80Arg) c.272-234G>C (n.272-234G>C) c.*282G>C (n.*282G>C) c.373G>C (p.Gly125Arg) | |
| 7 | g.151186893C>T | CA370037459 | ASB10 | c.238G>A (p.Gly80Ser) c.272-234G>A (n.272-234G>A) c.*282G>A (n.*282G>A) c.373G>A (p.Gly125Ser) | |
| 7 | g.151186894A>C | CA458881493 | ASB10 | c.237T>G (p.Thr79=) c.272-235T>G (n.272-235T>G) c.*281T>G (n.*281T>G) c.372T>G (p.Thr124=) | |
| 7 | g.151186894A>G | CA458881494 | ASB10 | c.237T>C (p.Thr79=) c.272-235T>C (n.272-235T>C) c.*281T>C (n.*281T>C) c.372T>C (p.Thr124=) | |
| 7 | g.151186894A>T | CA458881495 | ASB10 | c.237T>A (p.Thr79=) c.272-235T>A (n.272-235T>A) c.*281T>A (n.*281T>A) c.372T>A (p.Thr124=) | |
| 7 | g.151186895G>A | CA370037463 | ASB10 | c.236C>T (p.Thr79Ile) c.272-236C>T (n.272-236C>T) c.*280C>T (n.*280C>T) c.371C>T (p.Thr124Ile) | gnomAD v4 |
| 7 | g.151186895G>C | CA370037465 | ASB10 | c.236C>G (p.Thr79Ser) c.272-236C>G (n.272-236C>G) c.*280C>G (n.*280C>G) c.371C>G (p.Thr124Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.151186895G= | CA1752545596 | ASB10 | c.236C= (p.Thr79=) c.272-236C= (n.272-236C=) c.*280C= (n.*280C=) c.371C= (p.Thr124=) | |
| 7 | g.151186895G>T | CA370037464 | ASB10 | c.236C>A (p.Thr79Asn) c.272-236C>A (n.272-236C>A) c.*280C>A (n.*280C>A) c.371C>A (p.Thr124Asn) | |
| 7 | g.151186896T>A | CA370037466 | ASB10 | c.235A>T (p.Thr79Ser) c.272-237A>T (n.272-237A>T) c.*279A>T (n.*279A>T) c.370A>T (p.Thr124Ser) | |
| 7 | g.151186896T>C | CA370037468 | ASB10 | c.235A>G (p.Thr79Ala) c.272-237A>G (n.272-237A>G) c.*279A>G (n.*279A>G) c.370A>G (p.Thr124Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186896T>G | CA370037467 | ASB10 | c.235A>C (p.Thr79Pro) c.272-237A>C (n.272-237A>C) c.*279A>C (n.*279A>C) c.370A>C (p.Thr124Pro) | gnomAD v4 |
| 7 | g.151186896T= | CA1752545597 | ASB10 | c.235A= (p.Thr79=) c.272-237A= (n.272-237A=) c.*279A= (n.*279A=) c.370A= (p.Thr124=) | |
| 7 | g.151186897A= | CA1752545598 | ASB10 | c.234T= (p.Ser78=) c.272-238T= (n.272-238T=) c.*278T= (n.*278T=) c.369T= (p.Ser123=) | |
| 7 | g.151186897A>C | CA370037469 | ASB10 | c.234T>G (p.Ser78Arg) c.272-238T>G (n.272-238T>G) c.*278T>G (n.*278T>G) c.369T>G (p.Ser123Arg) | gnomAD v4 |
| 7 | g.151186897A>G | CA169125805 | ASB10 | c.234T>C (p.Ser78=) c.272-238T>C (n.272-238T>C) c.*278T>C (n.*278T>C) c.369T>C (p.Ser123=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186897A>T | CA370037470 | ASB10 | c.234T>A (p.Ser78Arg) c.272-238T>A (n.272-238T>A) c.*278T>A (n.*278T>A) c.369T>A (p.Ser123Arg) | |
| 7 | g.151186898C>A | CA370037471 | ASB10 | c.233G>T (p.Ser78Ile) c.272-239G>T (n.272-239G>T) c.*277G>T (n.*277G>T) c.368G>T (p.Ser123Ile) | |
| 7 | g.151186898C= | CA1752545599 | ASB10 | c.233G= (p.Ser78=) c.272-239G= (n.272-239G=) c.*277G= (n.*277G=) c.368G= (p.Ser123=) | |
| 7 | g.151186898C>G | CA370037472 | ASB10 | c.233G>C (p.Ser78Thr) c.272-239G>C (n.272-239G>C) c.*277G>C (n.*277G>C) c.368G>C (p.Ser123Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.151186898C>T | CA370037473 | ASB10 | c.233G>A (p.Ser78Asn) c.272-239G>A (n.272-239G>A) c.*277G>A (n.*277G>A) c.368G>A (p.Ser123Asn) | gnomAD v4 |
| 7 | g.151186899T>A | CA370037474 | ASB10 | c.232A>T (p.Ser78Cys) c.272-240A>T (n.272-240A>T) c.*276A>T (n.*276A>T) c.367A>T (p.Ser123Cys) | gnomAD v4 |
| 7 | g.151186899T>C | CA370037475 | ASB10 | c.232A>G (p.Ser78Gly) c.272-240A>G (n.272-240A>G) c.*276A>G (n.*276A>G) c.367A>G (p.Ser123Gly) | gnomAD v4 |
| 7 | g.151186899T>G | CA370037476 | ASB10 | c.232A>C (p.Ser78Arg) c.272-240A>C (n.272-240A>C) c.*276A>C (n.*276A>C) c.367A>C (p.Ser123Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.151186899T= | CA1752545600 | ASB10 | c.232A= (p.Ser78=) c.272-240A= (n.272-240A=) c.*276A= (n.*276A=) c.367A= (p.Ser123=) | |
| 7 | g.151186900G>A | CA458881498 | ASB10 | c.231C>T (p.Ser77=) c.272-241C>T (n.272-241C>T) c.*275C>T (n.*275C>T) c.366C>T (p.Ser122=) | dbSNP |
| 7 | g.151186900G>C | CA458881499 | ASB10 | c.231C>G (p.Ser77=) c.272-241C>G (n.272-241C>G) c.*275C>G (n.*275C>G) c.366C>G (p.Ser122=) | |
| 7 | g.151186900G= | CA1752545601 | ASB10 | c.231C= (p.Ser77=) c.272-241C= (n.272-241C=) c.*275C= (n.*275C=) c.366C= (p.Ser122=) | |
| 7 | g.151186900G>T | CA458881502 | ASB10 | c.231C>A (p.Ser77=) c.272-241C>A (n.272-241C>A) c.*275C>A (n.*275C>A) c.366C>A (p.Ser122=) | |
| 7 | g.151186901G>A | CA370037477 | ASB10 | c.230C>T (p.Ser77Phe) c.272-242C>T (n.272-242C>T) c.*274C>T (n.*274C>T) c.365C>T (p.Ser122Phe) | dbSNP gnomAD v2 |
| 7 | g.151186901G>C | CA370037478 | ASB10 | c.230C>G (p.Ser77Cys) c.272-242C>G (n.272-242C>G) c.*274C>G (n.*274C>G) c.365C>G (p.Ser122Cys) | dbSNP |
| 7 | g.151186901G= | CA1752545602 | ASB10 | c.230C= (p.Ser77=) c.272-242C= (n.272-242C=) c.*274C= (n.*274C=) c.365C= (p.Ser122=) | |
| 7 | g.151186901G>T | CA370037479 | ASB10 | c.230C>A (p.Ser77Tyr) c.272-242C>A (n.272-242C>A) c.*274C>A (n.*274C>A) c.365C>A (p.Ser122Tyr) | |
| 7 | g.151186902A>C | CA370037480 | ASB10 | c.229T>G (p.Ser77Ala) c.272-243T>G (n.272-243T>G) c.*273T>G (n.*273T>G) c.364T>G (p.Ser122Ala) | |
| 7 | g.151186902A>G | CA370037481 | ASB10 | c.229T>C (p.Ser77Pro) c.272-243T>C (n.272-243T>C) c.*273T>C (n.*273T>C) c.364T>C (p.Ser122Pro) | dbSNP |
| 7 | g.151186902A>T | CA370037482 | ASB10 | c.229T>A (p.Ser77Thr) c.272-243T>A (n.272-243T>A) c.*273T>A (n.*273T>A) c.364T>A (p.Ser122Thr) | |
| 7 | g.151186903G>A | CA458881504 | ASB10 | c.228C>T (p.Asp76=) c.272-244C>T (n.272-244C>T) c.*272C>T (n.*272C>T) c.363C>T (p.Asp121=) | |
| 7 | g.151186903G>C | CA370037484 | ASB10 | c.228C>G (p.Asp76Glu) c.272-244C>G (n.272-244C>G) c.*272C>G (n.*272C>G) c.363C>G (p.Asp121Glu) | |
| 7 | g.151186903G>T | CA370037483 | ASB10 | c.228C>A (p.Asp76Glu) c.272-244C>A (n.272-244C>A) c.*272C>A (n.*272C>A) c.363C>A (p.Asp121Glu) | |
| 7 | g.151186904T>A | CA370037485 | ASB10 | c.227A>T (p.Asp76Val) c.272-245A>T (n.272-245A>T) c.*271A>T (n.*271A>T) c.362A>T (p.Asp121Val) | |
| 7 | g.151186904T>C | CA370037486 | ASB10 | c.227A>G (p.Asp76Gly) c.272-245A>G (n.272-245A>G) c.*271A>G (n.*271A>G) c.362A>G (p.Asp121Gly) | |
| 7 | g.151186904T>G | CA370037487 | ASB10 | c.227A>C (p.Asp76Ala) c.272-245A>C (n.272-245A>C) c.*271A>C (n.*271A>C) c.362A>C (p.Asp121Ala) | |
| 7 | g.151186905C>A | CA370037488 | ASB10 | c.226G>T (p.Asp76Tyr) c.272-246G>T (n.272-246G>T) c.*270G>T (n.*270G>T) c.361G>T (p.Asp121Tyr) | |
| 7 | g.151186905C>G | CA370037490 | ASB10 | c.226G>C (p.Asp76His) c.272-246G>C (n.272-246G>C) c.*270G>C (n.*270G>C) c.361G>C (p.Asp121His) | |
| 7 | g.151186905C>T | CA370037491 | ASB10 | c.226G>A (p.Asp76Asn) c.272-246G>A (n.272-246G>A) c.*270G>A (n.*270G>A) c.361G>A (p.Asp121Asn) | gnomAD v4 |
| 7 | g.151186905_151186906delinsTT | CA645550293 | ASB10 | c.225_226delinsAA (p.Asp76Asn) c.272-247_272-246delinsAA (n.272-247_272-246delinsAA) c.*269_*270delinsAA (n.*269_*270delinsAA) c.360_361delinsAA (p.Asp121Asn) | COSMIC COSMIC COSMIC |
| 7 | g.151186906C>A | CA458881506 | ASB10 | c.225G>T (p.Ala75=) c.272-247G>T (n.272-247G>T) c.*269G>T (n.*269G>T) c.360G>T (p.Ala120=) | |
| 7 | g.151186906C= | CA1752545603 | ASB10 | c.225G= (p.Ala75=) c.272-247G= (n.272-247G=) c.*269G= (n.*269G=) c.360G= (p.Ala120=) | |
| 7 | g.151186906C>G | CA458881507 | ASB10 | c.225G>C (p.Ala75=) c.272-247G>C (n.272-247G>C) c.*269G>C (n.*269G>C) c.360G>C (p.Ala120=) | gnomAD v4 |
| 7 | g.151186906C>T | CA150526 | ASB10 | c.225G>A (p.Ala75=) c.272-247G>A (n.272-247G>A) c.*269G>A (n.*269G>A) c.360G>A (p.Ala120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186907G>A | CA4573958 | ASB10 | c.224C>T (p.Ala75Val) c.272-248C>T (n.272-248C>T) c.*268C>T (n.*268C>T) c.359C>T (p.Ala120Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186907G>C | CA169125821 | ASB10 | c.224C>G (p.Ala75Gly) c.272-248C>G (n.272-248C>G) c.*268C>G (n.*268C>G) c.359C>G (p.Ala120Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186907G= | CA1752545604 | ASB10 | c.224C= (p.Ala75=) c.272-248C= (n.272-248C=) c.*268C= (n.*268C=) c.359C= (p.Ala120=) | |
| 7 | g.151186907G>T | CA150466 | ASB10 | c.224C>A (p.Ala75Glu) c.272-248C>A (n.272-248C>A) c.*268C>A (n.*268C>A) c.359C>A (p.Ala120Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186910_151186917dup | CA4573957 | ASB10 | c.217_224dup (p.Asp76SerfsTer?) c.272-255_272-248dup (n.272-255_272-248dup) c.*261_*268dup (n.*261_*268dup) c.352_359dup (p.Asp121SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186908C>A | CA370037501 | ASB10 | c.223G>T (p.Ala75Ser) c.272-249G>T (n.272-249G>T) c.*267G>T (n.*267G>T) c.358G>T (p.Ala120Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.151186908C= | CA1752545606 | ASB10 | c.223G= (p.Ala75=) c.272-249G= (n.272-249G=) c.*267G= (n.*267G=) c.358G= (p.Ala120=) | |
| 7 | g.151186908C>G | CA370037499 | ASB10 | c.223G>C (p.Ala75Pro) c.272-249G>C (n.272-249G>C) c.*267G>C (n.*267G>C) c.358G>C (p.Ala120Pro) | |
| 7 | g.151186908C>T | CA4573959 | ASB10 | c.223G>A (p.Ala75Thr) c.272-249G>A (n.272-249G>A) c.*267G>A (n.*267G>A) c.358G>A (p.Ala120Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186909G>A | CA4573960 | ASB10 | c.222C>T (p.Leu74=) c.272-250C>T (n.272-250C>T) c.*266C>T (n.*266C>T) c.357C>T (p.Leu119=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186909G>C | CA458881509 | ASB10 | c.222C>G (p.Leu74=) c.272-250C>G (n.272-250C>G) c.*266C>G (n.*266C>G) c.357C>G (p.Leu119=) | gnomAD v4 |
| 7 | g.151186909G= | CA1752545608 | ASB10 | c.222C= (p.Leu74=) c.272-250C= (n.272-250C=) c.*266C= (n.*266C=) c.357C= (p.Leu119=) | |
| 7 | g.151186909G>T | CA458881510 | ASB10 | c.222C>A (p.Leu74=) c.272-250C>A (n.272-250C>A) c.*266C>A (n.*266C>A) c.357C>A (p.Leu119=) | |
| 7 | g.151186910A>C | CA370037504 | ASB10 | c.221T>G (p.Leu74Arg) c.272-251T>G (n.272-251T>G) c.*265T>G (n.*265T>G) c.356T>G (p.Leu119Arg) | |
| 7 | g.151186910A>G | CA370037505 | ASB10 | c.221T>C (p.Leu74Pro) c.272-251T>C (n.272-251T>C) c.*265T>C (n.*265T>C) c.356T>C (p.Leu119Pro) | |
| 7 | g.151186910A>T | CA370037506 | ASB10 | c.221T>A (p.Leu74His) c.272-251T>A (n.272-251T>A) c.*265T>A (n.*265T>A) c.356T>A (p.Leu119His) | COSMIC COSMIC COSMIC |
| 7 | g.151186911G>A | CA4573961 | ASB10 | c.220C>T (p.Leu74Phe) c.272-252C>T (n.272-252C>T) c.*264C>T (n.*264C>T) c.355C>T (p.Leu119Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186911G>C | CA370037508 | ASB10 | c.220C>G (p.Leu74Val) c.272-252C>G (n.272-252C>G) c.*264C>G (n.*264C>G) c.355C>G (p.Leu119Val) | |
| 7 | g.151186911G= | CA1752545611 | ASB10 | c.220C= (p.Leu74=) c.272-252C= (n.272-252C=) c.*264C= (n.*264C=) c.355C= (p.Leu119=) | |
| 7 | g.151186911G>T | CA370037511 | ASB10 | c.220C>A (p.Leu74Ile) c.272-252C>A (n.272-252C>A) c.*264C>A (n.*264C>A) c.355C>A (p.Leu119Ile) | |
| 7 | g.151186912G>A | CA458881513 | ASB10 | c.219C>T (p.Ile73=) c.272-253C>T (n.272-253C>T) c.*263C>T (n.*263C>T) c.354C>T (p.Ile118=) | |
| 7 | g.151186912G>C | CA370037512 | ASB10 | c.219C>G (p.Ile73Met) c.272-253C>G (n.272-253C>G) c.*263C>G (n.*263C>G) c.354C>G (p.Ile118Met) | |
| 7 | g.151186912G>T | CA458881514 | ASB10 | c.219C>A (p.Ile73=) c.272-253C>A (n.272-253C>A) c.*263C>A (n.*263C>A) c.354C>A (p.Ile118=) | |
| 7 | g.151186913A>C | CA370037514 | ASB10 | c.218T>G (p.Ile73Ser) c.272-254T>G (n.272-254T>G) c.*262T>G (n.*262T>G) c.353T>G (p.Ile118Ser) | |
| 7 | g.151186913A>G | CA370037515 | ASB10 | c.218T>C (p.Ile73Thr) c.272-254T>C (n.272-254T>C) c.*262T>C (n.*262T>C) c.353T>C (p.Ile118Thr) | gnomAD v4 |
| 7 | g.151186913A>T | CA370037516 | ASB10 | c.218T>A (p.Ile73Asn) c.272-254T>A (n.272-254T>A) c.*262T>A (n.*262T>A) c.353T>A (p.Ile118Asn) | gnomAD v4 |
| 7 | g.151186913_151186914insCG | CA2840051218 | ASB10 | c.217_218insCG (p.Ile73ThrfsTer?) c.272-255_272-254insCG (n.272-255_272-254insCG) c.*261_*262insCG (n.*261_*262insCG) c.352_353insCG (p.Ile118ThrfsTer?) | |
| 7 | g.151186914T>A | CA370037521 | ASB10 | c.217A>T (p.Ile73Phe) c.272-255A>T (n.272-255A>T) c.*261A>T (n.*261A>T) c.352A>T (p.Ile118Phe) | |
| 7 | g.151186914T>C | CA370037519 | ASB10 | c.217A>G (p.Ile73Val) c.272-255A>G (n.272-255A>G) c.*261A>G (n.*261A>G) c.352A>G (p.Ile118Val) | gnomAD v4 |
| 7 | g.151186914T>G | CA4573962 | ASB10 | c.217A>C (p.Ile73Leu) c.272-255A>C (n.272-255A>C) c.*261A>C (n.*261A>C) c.352A>C (p.Ile118Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186914T= | CA1752545614 | ASB10 | c.217A= (p.Ile73=) c.272-255A= (n.272-255A=) c.*261A= (n.*261A=) c.352A= (p.Ile118=) | |
| 7 | g.151186915G>A | CA4573963 | ASB10 | c.216C>T (p.Arg72=) c.272-256C>T (n.272-256C>T) c.*260C>T (n.*260C>T) c.351C>T (p.Arg117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186915G>C | CA458881516 | ASB10 | c.216C>G (p.Arg72=) c.272-256C>G (n.272-256C>G) c.*260C>G (n.*260C>G) c.351C>G (p.Arg117=) | |
| 7 | g.151186915G= | CA1752545616 | ASB10 | c.216C= (p.Arg72=) c.272-256C= (n.272-256C=) c.*260C= (n.*260C=) c.351C= (p.Arg117=) | |
| 7 | g.151186915G>T | CA458881517 | ASB10 | c.216C>A (p.Arg72=) c.272-256C>A (n.272-256C>A) c.*260C>A (n.*260C>A) c.351C>A (p.Arg117=) | gnomAD v4 |
| 7 | g.151186915_151186916insGGCTGTGTCTCCCGCATCCTCG | CA2839999849 | ASB10 | c.216_217insGAGGATGCGGGAGACACAGCCC (p.Ile73GlufsTer19) c.272-256_272-255insGAGGATGCGGGAGACACAGCCC (n.272-256_272-255insGAGGATGCGGGAGACACAGCCC) c.*260_*261insGAGGATGCGGGAGACACAGCCC (n.*260_*261insGAGGATGCGGGAGACACAGCCC) c.351_352insGAGGATGCGGGAGACACAGCCC (p.Ile118GlufsTer19) | |
| 7 | g.151186916C>A | CA370037522 | ASB10 | c.215G>T (p.Arg72Leu) c.272-257G>T (n.272-257G>T) c.*259G>T (n.*259G>T) c.350G>T (p.Arg117Leu) | gnomAD v4 |
| 7 | g.151186916C= | CA1752545618 | ASB10 | c.215G= (p.Arg72=) c.272-257G= (n.272-257G=) c.*259G= (n.*259G=) c.350G= (p.Arg117=) | |
| 7 | g.151186916C>G | CA370037523 | ASB10 | c.215G>C (p.Arg72Pro) c.272-257G>C (n.272-257G>C) c.*259G>C (n.*259G>C) c.350G>C (p.Arg117Pro) | gnomAD v4 |
| 7 | g.151186916C>T | CA143901 | ASB10 | c.215G>A (p.Arg72His) c.272-257G>A (n.272-257G>A) c.*259G>A (n.*259G>A) c.350G>A (p.Arg117His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186917G>A | CA4573964 | ASB10 | c.214C>T (p.Arg72Cys) c.272-258C>T (n.272-258C>T) c.*258C>T (n.*258C>T) c.349C>T (p.Arg117Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186917G>C | CA4573965 | ASB10 | c.214C>G (p.Arg72Gly) c.272-258C>G (n.272-258C>G) c.*258C>G (n.*258C>G) c.349C>G (p.Arg117Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186917G= | CA1752545623 | ASB10 | c.214C= (p.Arg72=) c.272-258C= (n.272-258C=) c.*258C= (n.*258C=) c.349C= (p.Arg117=) | |
| 7 | g.151186917G>T | CA370037525 | ASB10 | c.214C>A (p.Arg72Ser) c.272-258C>A (n.272-258C>A) c.*258C>A (n.*258C>A) c.349C>A (p.Arg117Ser) | |
| 7 | g.151186919del | CA2685657627 | ASB10 | c.214del (p.Arg72AlafsTer?) c.272-258del (n.272-258del) c.*258del (n.*258del) c.349del (p.Arg117AlafsTer?) | gnomAD v4 |
| 7 | g.151186918G>A | CA458881519 | ASB10 | c.213C>T (p.Ser71=) c.272-259C>T (n.272-259C>T) c.*257C>T (n.*257C>T) c.348C>T (p.Ser116=) | |
| 7 | g.151186918G>C | CA458881521 | ASB10 | c.213C>G (p.Ser71=) c.272-259C>G (n.272-259C>G) c.*257C>G (n.*257C>G) c.348C>G (p.Ser116=) | |
| 7 | g.151186918G>T | CA458881520 | ASB10 | c.213C>A (p.Ser71=) c.272-259C>A (n.272-259C>A) c.*257C>A (n.*257C>A) c.348C>A (p.Ser116=) | |
| 7 | g.151186919G>A | CA370037527 | ASB10 | c.212C>T (p.Ser71Phe) c.272-260C>T (n.272-260C>T) c.*256C>T (n.*256C>T) c.347C>T (p.Ser116Phe) | |
| 7 | g.151186919G>C | CA370037528 | ASB10 | c.212C>G (p.Ser71Cys) c.272-260C>G (n.272-260C>G) c.*256C>G (n.*256C>G) c.347C>G (p.Ser116Cys) | gnomAD v4 |
| 7 | g.151186919G>T | CA370037530 | ASB10 | c.212C>A (p.Ser71Tyr) c.272-260C>A (n.272-260C>A) c.*256C>A (n.*256C>A) c.347C>A (p.Ser116Tyr) | |
| 7 | g.151186920A>C | CA370037531 | ASB10 | c.211T>G (p.Ser71Ala) c.272-261T>G (n.272-261T>G) c.*255T>G (n.*255T>G) c.346T>G (p.Ser116Ala) | |
| 7 | g.151186920A>G | CA370037533 | ASB10 | c.211T>C (p.Ser71Pro) c.272-261T>C (n.272-261T>C) c.*255T>C (n.*255T>C) c.346T>C (p.Ser116Pro) | |
| 7 | g.151186920A>T | CA370037534 | ASB10 | c.211T>A (p.Ser71Thr) c.272-261T>A (n.272-261T>A) c.*255T>A (n.*255T>A) c.346T>A (p.Ser116Thr) | |
| 7 | g.151186921G>A | CA458881525 | ASB10 | c.210C>T (p.Val70=) c.272-262C>T (n.272-262C>T) c.*254C>T (n.*254C>T) c.345C>T (p.Val115=) | |
| 7 | g.151186921G>C | CA458881526 | ASB10 | c.210C>G (p.Val70=) c.272-262C>G (n.272-262C>G) c.*254C>G (n.*254C>G) c.345C>G (p.Val115=) | |
| 7 | g.151186921G= | CA1752545628 | ASB10 | c.210C= (p.Val70=) c.272-262C= (n.272-262C=) c.*254C= (n.*254C=) c.345C= (p.Val115=) | |
| 7 | g.151186921G>T | CA4573966 | ASB10 | c.210C>A (p.Val70=) c.272-262C>A (n.272-262C>A) c.*254C>A (n.*254C>A) c.345C>A (p.Val115=) | dbSNP ExAC gnomAD v2 |
| 7 | g.151186922A>C | CA370037536 | ASB10 | c.209T>G (p.Val70Gly) c.272-263T>G (n.272-263T>G) c.*253T>G (n.*253T>G) c.344T>G (p.Val115Gly) | |
| 7 | g.151186922A>G | CA370037535 | ASB10 | c.209T>C (p.Val70Ala) c.272-263T>C (n.272-263T>C) c.*253T>C (n.*253T>C) c.344T>C (p.Val115Ala) | |
| 7 | g.151186922A>T | CA370037538 | ASB10 | c.209T>A (p.Val70Asp) c.272-263T>A (n.272-263T>A) c.*253T>A (n.*253T>A) c.344T>A (p.Val115Asp) | |
| 7 | g.151186925_151186926del | CA458881528 | ASB10 | c.208_209del (p.Val70LeufsTer14) c.272-264_272-263del (n.272-264_272-263del) c.*252_*253del (n.*252_*253del) c.343_344del (p.Val115LeufsTer14) | |
| 7 | g.151186923C>A | CA370037540 | ASB10 | c.208G>T (p.Val70Phe) c.272-264G>T (n.272-264G>T) c.*252G>T (n.*252G>T) c.343G>T (p.Val115Phe) | |
| 7 | g.151186923C>G | CA370037541 | ASB10 | c.208G>C (p.Val70Leu) c.272-264G>C (n.272-264G>C) c.*252G>C (n.*252G>C) c.343G>C (p.Val115Leu) | |
| 7 | g.151186923C>T | CA370037542 | ASB10 | c.208G>A (p.Val70Ile) c.272-264G>A (n.272-264G>A) c.*252G>A (n.*252G>A) c.343G>A (p.Val115Ile) | gnomAD v4 |
| 7 | g.151186924A= | CA1752545631 | ASB10 | c.207T= (p.Cys69=) c.272-265T= (n.272-265T=) c.*251T= (n.*251T=) c.342T= (p.Cys114=) | |
| 7 | g.151186924A>C | CA370037543 | ASB10 | c.207T>G (p.Cys69Trp) c.272-265T>G (n.272-265T>G) c.*251T>G (n.*251T>G) c.342T>G (p.Cys114Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.151186924A>G | CA458881531 | ASB10 | c.207T>C (p.Cys69=) c.272-265T>C (n.272-265T>C) c.*251T>C (n.*251T>C) c.342T>C (p.Cys114=) | |
| 7 | g.151186924A>T | CA370037544 | ASB10 | c.207T>A (p.Cys69Ter) c.272-265T>A (n.272-265T>A) c.*251T>A (n.*251T>A) c.342T>A (p.Cys114Ter) | |
| 7 | g.151186925C>A | CA370037546 | ASB10 | c.206G>T (p.Cys69Phe) c.272-266G>T (n.272-266G>T) c.*250G>T (n.*250G>T) c.341G>T (p.Cys114Phe) | |
| 7 | g.151186925C= | CA1752545633 | ASB10 | c.206G= (p.Cys69=) c.272-266G= (n.272-266G=) c.*250G= (n.*250G=) c.341G= (p.Cys114=) | |
| 7 | g.151186925C>G | CA370037548 | ASB10 | c.206G>C (p.Cys69Ser) c.272-266G>C (n.272-266G>C) c.*250G>C (n.*250G>C) c.341G>C (p.Cys114Ser) | |
| 7 | g.151186925C>T | CA370037549 | ASB10 | c.206G>A (p.Cys69Tyr) c.272-266G>A (n.272-266G>A) c.*250G>A (n.*250G>A) c.341G>A (p.Cys114Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.151186926A= | CA1752545636 | ASB10 | c.205T= (p.Cys69=) c.272-267T= (n.272-267T=) c.*249T= (n.*249T=) c.340T= (p.Cys114=) | |
| 7 | g.151186926A>C | CA370037550 | ASB10 | c.205T>G (p.Cys69Gly) c.272-267T>G (n.272-267T>G) c.*249T>G (n.*249T>G) c.340T>G (p.Cys114Gly) | |
| 7 | g.151186926A>G | CA370037552 | ASB10 | c.205T>C (p.Cys69Arg) c.272-267T>C (n.272-267T>C) c.*249T>C (n.*249T>C) c.340T>C (p.Cys114Arg) | |
| 7 | g.151186926A>T | CA370037553 | ASB10 | c.205T>A (p.Cys69Ser) c.272-267T>A (n.272-267T>A) c.*249T>A (n.*249T>A) c.340T>A (p.Cys114Ser) | |
| 7 | g.151186927G>A | CA458881535 | ASB10 | c.204C>T (p.Gly68=) c.272-268C>T (n.272-268C>T) c.*248C>T (n.*248C>T) c.339C>T (p.Gly113=) | gnomAD v4 |
| 7 | g.151186927G>C | CA150524 | ASB10 | c.204C>G (p.Gly68=) c.272-268C>G (n.272-268C>G) c.*248C>G (n.*248C>G) c.339C>G (p.Gly113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186927G= | CA1752545643 | ASB10 | c.204C= (p.Gly68=) c.272-268C= (n.272-268C=) c.*248C= (n.*248C=) c.339C= (p.Gly113=) | |
| 7 | g.151186927G>T | CA458881536 | ASB10 | c.204C>A (p.Gly68=) c.272-268C>A (n.272-268C>A) c.*248C>A (n.*248C>A) c.339C>A (p.Gly113=) | gnomAD v3 gnomAD v4 |
| 7 | g.151186927_151186928insGG | CA169125877 | ASB10 | c.204_205insCC (p.Cys69ProfsTer?) c.272-268_272-267insCC (n.272-268_272-267insCC) c.*248_*249insCC (n.*248_*249insCC) c.339_340insCC (p.Cys114ProfsTer?) | dbSNP |
| 7 | g.151186928C>A | CA370037557 | ASB10 | c.203G>T (p.Gly68Val) c.272-269G>T (n.272-269G>T) c.*247G>T (n.*247G>T) c.338G>T (p.Gly113Val) | |
| 7 | g.151186928C= | CA1752545653 | ASB10 | c.203G= (p.Gly68=) c.272-269G= (n.272-269G=) c.*247G= (n.*247G=) c.338G= (p.Gly113=) | |
| 7 | g.151186928C>G | CA4573967 | ASB10 | c.203G>C (p.Gly68Ala) c.272-269G>C (n.272-269G>C) c.*247G>C (n.*247G>C) c.338G>C (p.Gly113Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186928C>T | CA370037556 | ASB10 | c.203G>A (p.Gly68Asp) c.272-269G>A (n.272-269G>A) c.*247G>A (n.*247G>A) c.338G>A (p.Gly113Asp) | |
| 7 | g.151186929C>A | CA370037559 | ASB10 | c.202G>T (p.Gly68Cys) c.272-270G>T (n.272-270G>T) c.*246G>T (n.*246G>T) c.337G>T (p.Gly113Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.151186929C= | CA1752545660 | ASB10 | c.202G= (p.Gly68=) c.272-270G= (n.272-270G=) c.*246G= (n.*246G=) c.337G= (p.Gly113=) | |
| 7 | g.151186929C>G | CA370037561 | ASB10 | c.202G>C (p.Gly68Arg) c.272-270G>C (n.272-270G>C) c.*246G>C (n.*246G>C) c.337G>C (p.Gly113Arg) | |
| 7 | g.151186929C>T | CA370037562 | ASB10 | c.202G>A (p.Gly68Ser) c.272-270G>A (n.272-270G>A) c.*246G>A (n.*246G>A) c.337G>A (p.Gly113Ser) | |
| 7 | g.151186930C>A | CA458881609 | ASB10 | c.201G>T (p.Val67=) c.272-271G>T (n.272-271G>T) c.*245G>T (n.*245G>T) c.336G>T (p.Val112=) | dbSNP gnomAD v2 |
| 7 | g.151186930C= | CA1752545664 | ASB10 | c.201G= (p.Val67=) c.272-271G= (n.272-271G=) c.*245G= (n.*245G=) c.336G= (p.Val112=) | |
| 7 | g.151186930C>G | CA458881610 | ASB10 | c.201G>C (p.Val67=) c.272-271G>C (n.272-271G>C) c.*245G>C (n.*245G>C) c.336G>C (p.Val112=) | |
| 7 | g.151186930C>T | CA458881611 | ASB10 | c.201G>A (p.Val67=) c.272-271G>A (n.272-271G>A) c.*245G>A (n.*245G>A) c.336G>A (p.Val112=) | |
| 7 | g.151186931A= | CA1752545667 | ASB10 | c.200T= (p.Val67=) c.272-272T= (n.272-272T=) c.*244T= (n.*244T=) c.335T= (p.Val112=) | |
| 7 | g.151186931A>C | CA169125891 | ASB10 | c.200T>G (p.Val67Gly) c.272-272T>G (n.272-272T>G) c.*244T>G (n.*244T>G) c.335T>G (p.Val112Gly) | dbSNP gnomAD v4 |
| 7 | g.151186931A>G | CA370037564 | ASB10 | c.200T>C (p.Val67Ala) c.272-272T>C (n.272-272T>C) c.*244T>C (n.*244T>C) c.335T>C (p.Val112Ala) | |
| 7 | g.151186931A>T | CA370037565 | ASB10 | c.200T>A (p.Val67Glu) c.272-272T>A (n.272-272T>A) c.*244T>A (n.*244T>A) c.335T>A (p.Val112Glu) | dbSNP |
| 7 | g.151186932C>A | CA370037567 | ASB10 | c.199G>T (p.Val67Leu) c.272-273G>T (n.272-273G>T) c.*243G>T (n.*243G>T) c.334G>T (p.Val112Leu) | |
| 7 | g.151186932C= | CA1752545672 | ASB10 | c.199G= (p.Val67=) c.272-273G= (n.272-273G=) c.*243G= (n.*243G=) c.334G= (p.Val112=) | |
| 7 | g.151186932C>G | CA169125901 | ASB10 | c.199G>C (p.Val67Leu) c.272-273G>C (n.272-273G>C) c.*243G>C (n.*243G>C) c.334G>C (p.Val112Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.151186932C>T | CA150522 | ASB10 | c.199G>A (p.Val67Met) c.272-273G>A (n.272-273G>A) c.*243G>A (n.*243G>A) c.334G>A (p.Val112Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.151186933G>A | CA458881614 | ASB10 | c.198C>T (p.Asp66=) c.272-274C>T (n.272-274C>T) c.*242C>T (n.*242C>T) c.333C>T (p.Asp111=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186933G>C | CA370037570 | ASB10 | c.198C>G (p.Asp66Glu) c.272-274C>G (n.272-274C>G) c.*242C>G (n.*242C>G) c.333C>G (p.Asp111Glu) | |
| 7 | g.151186933G= | CA1752545678 | ASB10 | c.198C= (p.Asp66=) c.272-274C= (n.272-274C=) c.*242C= (n.*242C=) c.333C= (p.Asp111=) | |
| 7 | g.151186933G>T | CA370037572 | ASB10 | c.198C>A (p.Asp66Glu) c.272-274C>A (n.272-274C>A) c.*242C>A (n.*242C>A) c.333C>A (p.Asp111Glu) | |
| 7 | g.151186934T>A | CA370037576 | ASB10 | c.197A>T (p.Asp66Val) c.272-275A>T (n.272-275A>T) c.*241A>T (n.*241A>T) c.332A>T (p.Asp111Val) | |
| 7 | g.151186934T>C | CA370037574 | ASB10 | c.197A>G (p.Asp66Gly) c.272-275A>G (n.272-275A>G) c.*241A>G (n.*241A>G) c.332A>G (p.Asp111Gly) | dbSNP gnomAD v4 |
| 7 | g.151186934T>G | CA370037573 | ASB10 | c.197A>C (p.Asp66Ala) c.272-275A>C (n.272-275A>C) c.*241A>C (n.*241A>C) c.332A>C (p.Asp111Ala) | |
| 7 | g.151186934T= | CA1752545681 | ASB10 | c.197A= (p.Asp66=) c.272-275A= (n.272-275A=) c.*241A= (n.*241A=) c.332A= (p.Asp111=) | |
| 7 | g.151186935C>A | CA370037577 | ASB10 | c.196G>T (p.Asp66Tyr) c.272-276G>T (n.272-276G>T) c.*240G>T (n.*240G>T) c.331G>T (p.Asp111Tyr) | |
| 7 | g.151186935C>G | CA370037579 | ASB10 | c.196G>C (p.Asp66His) c.272-276G>C (n.272-276G>C) c.*240G>C (n.*240G>C) c.331G>C (p.Asp111His) | |
| 7 | g.151186935C>T | CA370037580 | ASB10 | c.196G>A (p.Asp66Asn) c.272-276G>A (n.272-276G>A) c.*240G>A (n.*240G>A) c.331G>A (p.Asp111Asn) | |
| 7 | g.151186938dup | CA2840459452 | ASB10 | c.196dup (p.Asp66GlyfsTer19) c.272-276dup (n.272-276dup) c.*240dup (n.*240dup) c.331dup (p.Asp111GlyfsTer19) | |
| 7 | g.151186936C>A | CA458881619 | ASB10 | c.195G>T (p.Gly65=) c.272-277G>T (n.272-277G>T) c.*239G>T (n.*239G>T) c.330G>T (p.Gly110=) | |
| 7 | g.151186936C= | CA1752545686 | ASB10 | c.195G= (p.Gly65=) c.272-277G= (n.272-277G=) c.*239G= (n.*239G=) c.330G= (p.Gly110=) | |
| 7 | g.151186936C>G | CA458881620 | ASB10 | c.195G>C (p.Gly65=) c.272-277G>C (n.272-277G>C) c.*239G>C (n.*239G>C) c.330G>C (p.Gly110=) | |
| 7 | g.151186936C>T | CA4573968 | ASB10 | c.195G>A (p.Gly65=) c.272-277G>A (n.272-277G>A) c.*239G>A (n.*239G>A) c.330G>A (p.Gly110=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.151186937C>A | CA370037583 | ASB10 | c.194G>T (p.Gly65Val) c.272-278G>T (n.272-278G>T) c.*238G>T (n.*238G>T) c.329G>T (p.Gly110Val) | |
| 7 | g.151186937C= | CA1752545691 | ASB10 | c.194G= (p.Gly65=) c.272-278G= (n.272-278G=) c.*238G= (n.*238G=) c.329G= (p.Gly110=) | |
| 7 | g.151186937C>G | CA370037584 | ASB10 | c.194G>C (p.Gly65Ala) c.272-278G>C (n.272-278G>C) c.*238G>C (n.*238G>C) c.329G>C (p.Gly110Ala) | gnomAD v4 |
| 7 | g.151186937C>T | CA228061 | ASB10 | c.194G>A (p.Gly65Glu) c.272-278G>A (n.272-278G>A) c.*238G>A (n.*238G>A) c.329G>A (p.Gly110Glu) | ClinVar dbSNP |
| 7 | g.151186938C>A | CA370037586 | ASB10 | c.193G>T (p.Gly65Trp) c.272-279G>T (n.272-279G>T) c.*237G>T (n.*237G>T) c.328G>T (p.Gly110Trp) | |
| 7 | g.151186938C= | CA1752545695 | ASB10 | c.193G= (p.Gly65=) c.272-279G= (n.272-279G=) c.*237G= (n.*237G=) c.328G= (p.Gly110=) | |
| 7 | g.151186938C>G | CA370037588 | ASB10 | c.193G>C (p.Gly65Arg) c.272-279G>C (n.272-279G>C) c.*237G>C (n.*237G>C) c.328G>C (p.Gly110Arg) | |
| 7 | g.151186938C>T | CA370037590 | ASB10 | c.193G>A (p.Gly65Arg) c.272-279G>A (n.272-279G>A) c.*237G>A (n.*237G>A) c.328G>A (p.Gly110Arg) | dbSNP |
| 7 | g.151186939A= | CA1752545699 | ASB10 | c.192T= (p.Ala64=) c.272-280T= (n.272-280T=) c.*236T= (n.*236T=) c.327T= (p.Ala109=) | |
| 7 | g.151186939A>C | CA169125923 | ASB10 | c.192T>G (p.Ala64=) c.272-280T>G (n.272-280T>G) c.*236T>G (n.*236T>G) c.327T>G (p.Ala109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186939A>G | CA458881626 | ASB10 | c.192T>C (p.Ala64=) c.272-280T>C (n.272-280T>C) c.*236T>C (n.*236T>C) c.327T>C (p.Ala109=) | |
| 7 | g.151186939A>T | CA458881625 | ASB10 | c.192T>A (p.Ala64=) c.272-280T>A (n.272-280T>A) c.*236T>A (n.*236T>A) c.327T>A (p.Ala109=) | |
| 7 | g.151186940G>A | CA370037591 | ASB10 | c.191C>T (p.Ala64Val) c.272-281C>T (n.272-281C>T) c.*235C>T (n.*235C>T) c.326C>T (p.Ala109Val) | |
| 7 | g.151186940G>C | CA4573969 | ASB10 | c.191C>G (p.Ala64Gly) c.272-281C>G (n.272-281C>G) c.*235C>G (n.*235C>G) c.326C>G (p.Ala109Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186940G= | CA1752545703 | ASB10 | c.191C= (p.Ala64=) c.272-281C= (n.272-281C=) c.*235C= (n.*235C=) c.326C= (p.Ala109=) | |
| 7 | g.151186940G>T | CA370037593 | ASB10 | c.191C>A (p.Ala64Asp) c.272-281C>A (n.272-281C>A) c.*235C>A (n.*235C>A) c.326C>A (p.Ala109Asp) | |
| 7 | g.151186941C>A | CA370037594 | ASB10 | c.190G>T (p.Ala64Ser) c.272-282G>T (n.272-282G>T) c.*234G>T (n.*234G>T) c.325G>T (p.Ala109Ser) | gnomAD v4 |
| 7 | g.151186941C= | CA1752545706 | ASB10 | c.190G= (p.Ala64=) c.272-282G= (n.272-282G=) c.*234G= (n.*234G=) c.325G= (p.Ala109=) | |
| 7 | g.151186941C>G | CA370037597 | ASB10 | c.190G>C (p.Ala64Pro) c.272-282G>C (n.272-282G>C) c.*234G>C (n.*234G>C) c.325G>C (p.Ala109Pro) | |
| 7 | g.151186941C>T | CA370037596 | ASB10 | c.190G>A (p.Ala64Thr) c.272-282G>A (n.272-282G>A) c.*234G>A (n.*234G>A) c.325G>A (p.Ala109Thr) | dbSNP gnomAD v2 |
| 7 | g.151186942dup | CA2838489310 | ASB10 | c.190dup (p.Ala64GlyfsTer21) c.272-282dup (n.272-282dup) c.*234dup (n.*234dup) c.325dup (p.Ala109GlyfsTer21) | |
| 7 | g.151186942C>A | CA458881630 | ASB10 | c.189G>T (p.Leu63=) c.272-283G>T (n.272-283G>T) c.*233G>T (n.*233G>T) c.324G>T (p.Leu108=) | |
| 7 | g.151186942C>G | CA458881632 | ASB10 | c.189G>C (p.Leu63=) c.272-283G>C (n.272-283G>C) c.*233G>C (n.*233G>C) c.324G>C (p.Leu108=) | |
| 7 | g.151186942C>T | CA458881633 | ASB10 | c.189G>A (p.Leu63=) c.272-283G>A (n.272-283G>A) c.*233G>A (n.*233G>A) c.324G>A (p.Leu108=) | |
| 7 | g.151186943A>C | CA370037598 | ASB10 | c.188T>G (p.Leu63Arg) c.272-284T>G (n.272-284T>G) c.*232T>G (n.*232T>G) c.323T>G (p.Leu108Arg) | |
| 7 | g.151186943A>G | CA370037600 | ASB10 | c.188T>C (p.Leu63Pro) c.272-284T>C (n.272-284T>C) c.*232T>C (n.*232T>C) c.323T>C (p.Leu108Pro) | |
| 7 | g.151186943A>T | CA370037602 | ASB10 | c.188T>A (p.Leu63Gln) c.272-284T>A (n.272-284T>A) c.*232T>A (n.*232T>A) c.323T>A (p.Leu108Gln) | |
| 7 | g.151186944G>A | CA458881637 | ASB10 | c.187C>T (p.Leu63=) c.272-285C>T (n.272-285C>T) c.*231C>T (n.*231C>T) c.322C>T (p.Leu108=) | |
| 7 | g.151186944G>C | CA370037603 | ASB10 | c.187C>G (p.Leu63Val) c.272-285C>G (n.272-285C>G) c.*231C>G (n.*231C>G) c.322C>G (p.Leu108Val) | |
| 7 | g.151186944G>T | CA370037605 | ASB10 | c.187C>A (p.Leu63Met) c.272-285C>A (n.272-285C>A) c.*231C>A (n.*231C>A) c.322C>A (p.Leu108Met) | |
| 7 | g.151186945C>A | CA458881639 | ASB10 | c.186G>T (p.Val62=) c.272-286G>T (n.272-286G>T) c.*230G>T (n.*230G>T) c.321G>T (p.Val107=) | |
| 7 | g.151186945C>G | CA458881640 | ASB10 | c.186G>C (p.Val62=) c.272-286G>C (n.272-286G>C) c.*230G>C (n.*230G>C) c.321G>C (p.Val107=) | |
| 7 | g.151186945C>T | CA458881641 | ASB10 | c.186G>A (p.Val62=) c.272-286G>A (n.272-286G>A) c.*230G>A (n.*230G>A) c.321G>A (p.Val107=) | gnomAD v4 |
| 7 | g.151186946A>C | CA370037607 | ASB10 | c.185T>G (p.Val62Gly) c.272-287T>G (n.272-287T>G) c.*229T>G (n.*229T>G) c.320T>G (p.Val107Gly) | |
| 7 | g.151186946A>G | CA370037609 | ASB10 | c.185T>C (p.Val62Ala) c.272-287T>C (n.272-287T>C) c.*229T>C (n.*229T>C) c.320T>C (p.Val107Ala) | gnomAD v4 |
| 7 | g.151186946A>T | CA370037611 | ASB10 | c.185T>A (p.Val62Glu) c.272-287T>A (n.272-287T>A) c.*229T>A (n.*229T>A) c.320T>A (p.Val107Glu) | |
| 7 | g.151186947C>A | CA370037612 | ASB10 | c.184G>T (p.Val62Leu) c.272-288G>T (n.272-288G>T) c.*228G>T (n.*228G>T) c.319G>T (p.Val107Leu) | |
| 7 | g.151186947C= | CA1752545709 | ASB10 | c.184G= (p.Val62=) c.272-288G= (n.272-288G=) c.*228G= (n.*228G=) c.319G= (p.Val107=) | |
| 7 | g.151186947C>G | CA370037613 | ASB10 | c.184G>C (p.Val62Leu) c.272-288G>C (n.272-288G>C) c.*228G>C (n.*228G>C) c.319G>C (p.Val107Leu) | |
| 7 | g.151186947C>T | CA4573970 | ASB10 | c.184G>A (p.Val62Met) c.272-288G>A (n.272-288G>A) c.*228G>A (n.*228G>A) c.319G>A (p.Val107Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.151186948T>A | CA458881646 | ASB10 | c.183A>T (p.Ala61=) c.272-289A>T (n.272-289A>T) c.*227A>T (n.*227A>T) c.318A>T (p.Ala106=) | |
| 7 | g.151186948T>C | CA458881647 | ASB10 | c.183A>G (p.Ala61=) c.272-289A>G (n.272-289A>G) c.*227A>G (n.*227A>G) c.318A>G (p.Ala106=) | gnomAD v4 |
| 7 | g.151186948T>G | CA458881648 | ASB10 | c.183A>C (p.Ala61=) c.272-289A>C (n.272-289A>C) c.*227A>C (n.*227A>C) c.318A>C (p.Ala106=) | |
| 7 | g.151186949G>A | CA370037618 | ASB10 | c.182C>T (p.Ala61Val) c.272-290C>T (n.272-290C>T) c.*226C>T (n.*226C>T) c.317C>T (p.Ala106Val) | |
| 7 | g.151186949G>C | CA370037619 | ASB10 | c.182C>G (p.Ala61Gly) c.272-290C>G (n.272-290C>G) c.*226C>G (n.*226C>G) c.317C>G (p.Ala106Gly) | |
| 7 | g.151186949G>T | CA370037616 | ASB10 | c.182C>A (p.Ala61Glu) c.272-290C>A (n.272-290C>A) c.*226C>A (n.*226C>A) c.317C>A (p.Ala106Glu) |