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 |
|---|---|---|---|---|---|
| X | g.120446374dup | CA870731051 | LAMP2 | c.796dup (p.Arg266ProfsTer8) c.339dup | dbSNP |
| X | g.120446374G>A | CA518401602 | LAMP2 | c.795C>T (p.Cys265=) c.338C>T | |
| X | g.120446374G>C | CA414400924 | LAMP2 | c.795C>G (p.Cys265Trp) c.338C>G | |
| X | g.120446374G= | CA2454872288 | LAMP2 | c.795C= (p.Cys265=) c.338C= | |
| X | g.120446374G>T | CA333661 | LAMP2 | c.795C>A (p.Cys265Ter) c.338C>A | ClinVar dbSNP |
| X | g.120446375C>A | CA414400926 | LAMP2 | c.794G>T (p.Cys265Phe) c.337G>T | |
| X | g.120446375C>G | CA414400928 | LAMP2 | c.794G>C (p.Cys265Ser) c.337G>C | |
| X | g.120446375C>T | CA414400930 | LAMP2 | c.794G>A (p.Cys265Tyr) c.337G>A | |
| X | g.120446376A>C | CA414400933 | LAMP2 | c.793T>G (p.Cys265Gly) c.336T>G | |
| X | g.120446376A>G | CA414400935 | LAMP2 | c.793T>C (p.Cys265Arg) c.336T>C | |
| X | g.120446376A>T | CA414400932 | LAMP2 | c.793T>A (p.Cys265Ser) c.336T>A | |
| X | g.120446377G>A | CA518401603 | LAMP2 | c.792C>T (p.Ser264=) c.335C>T | gnomAD v4 |
| X | g.120446377G>C | CA414400937 | LAMP2 | c.792C>G (p.Ser264Arg) c.335C>G | |
| X | g.120446377G>T | CA414400936 | LAMP2 | c.792C>A (p.Ser264Arg) c.335C>A | |
| X | g.120446378C>A | CA414400939 | LAMP2 | c.791G>T (p.Ser264Ile) c.334G>T | |
| X | g.120446378C= | CA2454872289 | LAMP2 | c.791G= (p.Ser264=) c.334G= | |
| X | g.120446378C>G | CA10505250 | LAMP2 | c.791G>C (p.Ser264Thr) c.334G>C | dbSNP ExAC gnomAD v2 |
| X | g.120446378C>T | CA414400938 | LAMP2 | c.791G>A (p.Ser264Asn) c.334G>A | |
| X | g.120446379T>A | CA414400940 | LAMP2 | c.790A>T (p.Ser264Cys) c.333A>T | |
| X | g.120446379T>C | CA414400941 | LAMP2 | c.790A>G (p.Ser264Gly) c.333A>G | |
| X | g.120446379T>G | CA414400942 | LAMP2 | c.790A>C (p.Ser264Arg) c.333A>C | dbSNP gnomAD v2 |
| X | g.120446379T= | CA2454872290 | LAMP2 | c.790A= (p.Ser264=) c.333A= | |
| X | g.120446380G>A | CA518401604 | LAMP2 | c.789C>T (p.Gly263=) c.332C>T | dbSNP |
| X | g.120446380G>C | CA518401605 | LAMP2 | c.789C>G (p.Gly263=) c.332C>G | gnomAD v4 |
| X | g.120446380G= | CA2454872292 | LAMP2 | c.789C= (p.Gly263=) c.332C= | |
| X | g.120446380G>T | CA518401606 | LAMP2 | c.789C>A (p.Gly263=) c.332C>A | |
| X | g.120446380_120446381delinsGC | CA2454872291 | LAMP2 | c.788_789delinsGC (p.Gly263=) c.331_332delinsGC | |
| X | g.120446381C>A | CA414400947 | LAMP2 | c.788G>T (p.Gly263Val) c.331G>T | |
| X | g.120446381C= | CA2454872293 | LAMP2 | c.788G= (p.Gly263=) c.331G= | |
| X | g.120446381C>G | CA414400948 | LAMP2 | c.788G>C (p.Gly263Ala) c.331G>C | dbSNP gnomAD v2 |
| X | g.120446381C>T | CA414400950 | LAMP2 | c.788G>A (p.Gly263Asp) c.331G>A | |
| X | g.120446382del | CA16616431 | LAMP2 | c.788del (p.Gly263AlafsTer20) c.331del | ClinVar dbSNP |
| X | g.120446382C>A | CA414400952 | LAMP2 | c.787G>T (p.Gly263Cys) c.330G>T | |
| X | g.120446382C>G | CA414400953 | LAMP2 | c.787G>C (p.Gly263Arg) c.330G>C | dbSNP |
| X | g.120446382C>T | CA414400954 | LAMP2 | c.787G>A (p.Gly263Ser) c.330G>A | |
| X | g.120446383T>A | CA518401607 | LAMP2 | c.786A>T (p.Thr262=) c.329A>T | |
| X | g.120446383T>C | CA518401609 | LAMP2 | c.786A>G (p.Thr262=) c.329A>G | ClinVar dbSNP gnomAD v4 |
| X | g.120446383T>G | CA518401608 | LAMP2 | c.786A>C (p.Thr262=) c.329A>C | |
| X | g.120446383T= | CA2454872294 | LAMP2 | c.786A= (p.Thr262=) c.329A= | |
| X | g.120446384G>A | CA414400959 | LAMP2 | c.785C>T (p.Thr262Ile) c.328C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120446384G>C | CA414400957 | LAMP2 | c.785C>G (p.Thr262Arg) c.328C>G | |
| X | g.120446384G= | CA2454872295 | LAMP2 | c.785C= (p.Thr262=) c.328C= | |
| X | g.120446384G>T | CA414400958 | LAMP2 | c.785C>A (p.Thr262Lys) c.328C>A | |
| X | g.120446385T>A | CA414400966 | LAMP2 | c.784A>T (p.Thr262Ser) c.327A>T | |
| X | g.120446385T>C | CA10505251 | LAMP2 | c.784A>G (p.Thr262Ala) c.327A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120446385T>G | CA414400967 | LAMP2 | c.784A>C (p.Thr262Pro) c.327A>C | |
| X | g.120446385T= | CA2454872296 | LAMP2 | c.784A= (p.Thr262=) c.327A= | |
| X | g.120446386G>A | CA518401610 | LAMP2 | c.783C>T (p.Ser261=) c.326C>T | gnomAD v4 |
| X | g.120446386G>C | CA518401611 | LAMP2 | c.783C>G (p.Ser261=) c.326C>G | |
| X | g.120446386G>T | CA518401612 | LAMP2 | c.783C>A (p.Ser261=) c.326C>A | |
| X | g.120446387G>A | CA414400968 | LAMP2 | c.782C>T (p.Ser261Phe) c.325C>T | |
| X | g.120446387G>C | CA414400969 | LAMP2 | c.782C>G (p.Ser261Cys) c.325C>G | |
| X | g.120446387G>T | CA414400970 | LAMP2 | c.782C>A (p.Ser261Tyr) c.325C>A | |
| X | g.120446388A>C | CA414400972 | LAMP2 | c.781T>G (p.Ser261Ala) c.324T>G | |
| X | g.120446388A>G | CA414400973 | LAMP2 | c.781T>C (p.Ser261Pro) c.324T>C | |
| X | g.120446388A>T | CA414400975 | LAMP2 | c.781T>A (p.Ser261Thr) c.324T>A | |
| X | g.120446389G>A | CA518401613 | LAMP2 | c.780C>T (p.His260=) c.323C>T | |
| X | g.120446389G>C | CA414400976 | LAMP2 | c.780C>G (p.His260Gln) c.323C>G | gnomAD v4 |
| X | g.120446389G>T | CA414400978 | LAMP2 | c.780C>A (p.His260Gln) c.323C>A | |
| X | g.120446391_120446397del | CA2580100287 | LAMP2 | c.774_780del (p.Thr259ProfsTer22) c.317_323del | ClinVar |
| X | g.120446390T>A | CA414400981 | LAMP2 | c.779A>T (p.His260Leu) c.322A>T | |
| X | g.120446390T>C | CA414400982 | LAMP2 | c.779A>G (p.His260Arg) c.322A>G | |
| X | g.120446390T>G | CA414400979 | LAMP2 | c.779A>C (p.His260Pro) c.322A>C | |
| X | g.120446391G>A | CA10505252 | LAMP2 | c.778C>T (p.His260Tyr) c.321C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120446391G>C | CA414400984 | LAMP2 | c.778C>G (p.His260Asp) c.321C>G | |
| X | g.120446391G= | CA2454872297 | LAMP2 | c.778C= (p.His260=) c.321C= | |
| X | g.120446391G>T | CA414400986 | LAMP2 | c.778C>A (p.His260Asn) c.321C>A | |
| X | g.120446392A= | CA2454872298 | LAMP2 | c.777T= (p.Thr259=) c.320T= | |
| X | g.120446392A>C | CA518401615 | LAMP2 | c.777T>G (p.Thr259=) c.320T>G | |
| X | g.120446392A>G | CA518401616 | LAMP2 | c.777T>C (p.Thr259=) c.320T>C | dbSNP gnomAD v4 |
| X | g.120446392A>T | CA518401617 | LAMP2 | c.777T>A (p.Thr259=) c.320T>A | |
| X | g.120446393G>A | CA414400987 | LAMP2 | c.776C>T (p.Thr259Ile) c.319C>T | |
| X | g.120446393G>C | CA414400988 | LAMP2 | c.776C>G (p.Thr259Ser) c.319C>G | |
| X | g.120446393G>T | CA414400989 | LAMP2 | c.776C>A (p.Thr259Asn) c.319C>A | |
| X | g.120446394T>A | CA335013401 | LAMP2 | c.775A>T (p.Thr259Ser) c.318A>T | dbSNP |
| X | g.120446394T>C | CA414400992 | LAMP2 | c.775A>G (p.Thr259Ala) c.318A>G | |
| X | g.120446394T>G | CA414400993 | LAMP2 | c.775A>C (p.Thr259Pro) c.318A>C | |
| X | g.120446394T= | CA2454872299 | LAMP2 | c.775A= (p.Thr259=) c.318A= | |
| X | g.120446395T>A | CA518401618 | LAMP2 | c.774A>T (p.Thr258=) c.317A>T | |
| X | g.120446395T>C | CA518401619 | LAMP2 | c.774A>G (p.Thr258=) c.317A>G | |
| X | g.120446395T>G | CA518401620 | LAMP2 | c.774A>C (p.Thr258=) c.317A>C | |
| X | g.120446396G>A | CA10505253 | LAMP2 | c.773C>T (p.Thr258Ile) c.316C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120446396G>C | CA414400995 | LAMP2 | c.773C>G (p.Thr258Arg) c.316C>G | ClinVar dbSNP gnomAD v4 |
| X | g.120446396G= | CA2454872300 | LAMP2 | c.773C= (p.Thr258=) c.316C= | |
| X | g.120446396G>T | CA414400996 | LAMP2 | c.773C>A (p.Thr258Lys) c.316C>A | |
| X | g.120446397T>A | CA414401000 | LAMP2 | c.772A>T (p.Thr258Ser) c.315A>T | |
| X | g.120446397T>C | CA414400997 | LAMP2 | c.772A>G (p.Thr258Ala) c.315A>G | |
| X | g.120446397T>G | CA414400999 | LAMP2 | c.772A>C (p.Thr258Pro) c.315A>C | |
| X | g.120446398A= | CA2454872301 | LAMP2 | c.771T= (p.Asn257=) c.314T= | |
| X | g.120446398A>C | CA414401002 | LAMP2 | c.771T>G (p.Asn257Lys) c.314T>G | |
| X | g.120446398A>G | CA10505254 | LAMP2 | c.771T>C (p.Asn257=) c.314T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120446398A>T | CA414401003 | LAMP2 | c.771T>A (p.Asn257Lys) c.314T>A | |
| X | g.120446399T>A | CA414401004 | LAMP2 | c.770A>T (p.Asn257Ile) c.313A>T | |
| X | g.120446399T>C | CA414401006 | LAMP2 | c.770A>G (p.Asn257Ser) c.313A>G | ClinVar dbSNP gnomAD v4 |
| X | g.120446399T>G | CA414401007 | LAMP2 | c.770A>C (p.Asn257Thr) c.313A>C | |
| X | g.120446399T= | CA2454872302 | LAMP2 | c.770A= (p.Asn257=) c.313A= | |
| X | g.120446400T>A | CA414401009 | LAMP2 | c.769A>T (p.Asn257Tyr) c.312A>T | |
| X | g.120446400T>C | CA335013402 | LAMP2 | c.769A>G (p.Asn257Asp) c.312A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120446400T>G | CA414401011 | LAMP2 | c.769A>C (p.Asn257His) c.312A>C | |
| X | g.120446400T= | CA2454872303 | LAMP2 | c.769A= (p.Asn257=) c.312A= | |
| X | g.120446401G>A | CA10505255 | LAMP2 | c.768C>T (p.Pro256=) c.311C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120446401G>C | CA518401621 | LAMP2 | c.768C>G (p.Pro256=) c.311C>G | |
| X | g.120446401G= | CA2454872304 | LAMP2 | c.768C= (p.Pro256=) c.311C= | |
| X | g.120446401G>T | CA518401622 | LAMP2 | c.768C>A (p.Pro256=) c.311C>A | |
| X | g.120446404del | CA2573159181 | LAMP2 | c.768del (p.Asn257IlefsTer26) c.311del | ClinVar dbSNP |
| X | g.120446401_120446406delinsACTTCA | CA1139667772 | LAMP2 | c.763_768delinsTGAAGT (p.Asn255Ter) c.306_311delinsTGAAGT | ClinVar dbSNP |
| X | g.120446401_120446406delinsGGGGTT | CA2454872305 | LAMP2 | c.763_768delinsAACCCC (p.Asn255=) c.306_311delinsAACCCC | |
| X | g.120446402G>A | CA414401013 | LAMP2 | c.767C>T (p.Pro256Leu) c.310C>T | |
| X | g.120446402G>C | CA414401014 | LAMP2 | c.767C>G (p.Pro256Arg) c.310C>G | |
| X | g.120446402G>T | CA335013403 | LAMP2 | c.767C>A (p.Pro256His) c.310C>A | |
| X | g.120446403G>A | CA10505256 | LAMP2 | c.766C>T (p.Pro256Ser) c.309C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.120446403G>C | CA414401018 | LAMP2 | c.766C>G (p.Pro256Ala) c.309C>G | |
| X | g.120446403G= | CA2454872306 | LAMP2 | c.766C= (p.Pro256=) c.309C= | |
| X | g.120446403G>T | CA414401017 | LAMP2 | c.766C>A (p.Pro256Thr) c.309C>A | |
| X | g.120446404G>A | CA518401624 | LAMP2 | c.765C>T (p.Asn255=) c.308C>T | |
| X | g.120446404G>C | CA414401022 | LAMP2 | c.765C>G (p.Asn255Lys) c.308C>G | |
| X | g.120446404G>T | CA414401020 | LAMP2 | c.765C>A (p.Asn255Lys) c.308C>A | |
| X | g.120446405T>A | CA414401023 | LAMP2 | c.764A>T (p.Asn255Ile) c.307A>T | |
| X | g.120446405T>C | CA414401025 | LAMP2 | c.764A>G (p.Asn255Ser) c.307A>G | |
| X | g.120446405T>G | CA414401027 | LAMP2 | c.764A>C (p.Asn255Thr) c.307A>C | |
| X | g.120446405_120446406insCT | CA2695235718 | LAMP2 | c.764_765insGA (p.Asn255LysfsTer29) c.307_308insGA | |
| X | g.120446406T>A | CA414401028 | LAMP2 | c.763A>T (p.Asn255Tyr) c.306A>T | |
| X | g.120446406T>C | CA414401030 | LAMP2 | c.763A>G (p.Asn255Asp) c.306A>G | |
| X | g.120446406T>G | CA414401031 | LAMP2 | c.763A>C (p.Asn255His) c.306A>C | |
| X | g.120446407G>A | CA518401625 | LAMP2 | c.762C>T (p.Ile254=) c.305C>T | |
| X | g.120446407G>C | CA414401033 | LAMP2 | c.762C>G (p.Ile254Met) c.305C>G | |
| X | g.120446407G>T | CA518401626 | LAMP2 | c.762C>A (p.Ile254=) c.305C>A | |
| X | g.120446408A>C | CA414401035 | LAMP2 | c.761T>G (p.Ile254Ser) c.304T>G | |
| X | g.120446408A>G | CA414401036 | LAMP2 | c.761T>C (p.Ile254Thr) c.304T>C | |
| X | g.120446408A>T | CA414401037 | LAMP2 | c.761T>A (p.Ile254Asn) c.304T>A | |
| X | g.120446409T>A | CA414401043 | LAMP2 | c.760A>T (p.Ile254Phe) c.303A>T | |
| X | g.120446409T>C | CA414401041 | LAMP2 | c.760A>G (p.Ile254Val) c.303A>G | gnomAD v4 |
| X | g.120446409T>G | CA414401039 | LAMP2 | c.760A>C (p.Ile254Leu) c.303A>C | |
| X | g.120446410G>A | CA10505257 | LAMP2 | c.759C>T (p.Asn253=) c.302C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120446410G>C | CA414401044 | LAMP2 | c.759C>G (p.Asn253Lys) c.302C>G | |
| X | g.120446410G= | CA2454872307 | LAMP2 | c.759C= (p.Asn253=) c.302C= | |
| X | g.120446410G>T | CA414401046 | LAMP2 | c.759C>A (p.Asn253Lys) c.302C>A | |
| X | g.120446411T>A | CA414401048 | LAMP2 | c.758A>T (p.Asn253Ile) c.301A>T | |
| X | g.120446411T>C | CA414401049 | LAMP2 | c.758A>G (p.Asn253Ser) c.301A>G | |
| X | g.120446411T>G | CA414401051 | LAMP2 | c.758A>C (p.Asn253Thr) c.301A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120446411T= | CA2454872308 | LAMP2 | c.758A= (p.Asn253=) c.301A= | |
| X | g.120446412T>A | CA414401052 | LAMP2 | c.757A>T (p.Asn253Tyr) c.300A>T | |
| X | g.120446412T>C | CA414401054 | LAMP2 | c.757A>G (p.Asn253Asp) c.300A>G | |
| X | g.120446412T>G | CA414401056 | LAMP2 | c.757A>C (p.Asn253His) c.300A>C | |
| X | g.120446413A>C | CA414401057 | LAMP2 | c.756T>G (p.Ile252Met) c.299T>G | |
| X | g.120446413A>G | CA518401629 | LAMP2 | c.756T>C (p.Ile252=) c.299T>C | |
| X | g.120446413A>T | CA518401630 | LAMP2 | c.756T>A (p.Ile252=) c.299T>A | |
| X | g.120446414A= | CA2454872309 | LAMP2 | c.755T= (p.Ile252=) c.298T= | |
| X | g.120446414A>C | CA134176 | LAMP2 | c.755T>G (p.Ile252Ser) c.298T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120446414A>G | CA414401058 | LAMP2 | c.755T>C (p.Ile252Thr) c.298T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120446414A>T | CA414401060 | LAMP2 | c.755T>A (p.Ile252Asn) c.298T>A | |
| X | g.120446415T>A | CA414401062 | LAMP2 | c.754A>T (p.Ile252Phe) c.297A>T | |
| X | g.120446415T>C | CA414401063 | LAMP2 | c.754A>G (p.Ile252Val) c.297A>G | dbSNP |
| X | g.120446415T>G | CA414401061 | LAMP2 | c.754A>C (p.Ile252Leu) c.297A>C | |
| X | g.120446415T= | CA2454872310 | LAMP2 | c.754A= (p.Ile252=) c.297A= | |
| X | g.120446416A>C | CA518401633 | LAMP2 | c.753T>G (p.Val251=) c.296T>G | |
| X | g.120446416A>G | CA518401634 | LAMP2 | c.753T>C (p.Val251=) c.296T>C | |
| X | g.120446416A>T | CA518401635 | LAMP2 | c.753T>A (p.Val251=) c.296T>A | |
| X | g.120446417dup | CA2580100289 | LAMP2 | c.753dup (p.Ile252TyrfsTer2) c.296dup | ClinVar |
| X | g.120446417A>C | CA414401065 | LAMP2 | c.752T>G (p.Val251Gly) c.295T>G | |
| X | g.120446417A>G | CA414401066 | LAMP2 | c.752T>C (p.Val251Ala) c.295T>C | |
| X | g.120446417A>T | CA414401068 | LAMP2 | c.752T>A (p.Val251Asp) c.295T>A | |
| X | g.120446418C>A | CA414401069 | LAMP2 | c.751G>T (p.Val251Phe) c.294G>T | |
| X | g.120446418C= | CA2454872311 | LAMP2 | c.751G= (p.Val251=) c.294G= | |
| X | g.120446418C>G | CA414401070 | LAMP2 | c.751G>C (p.Val251Leu) c.294G>C | |
| X | g.120446418C>T | CA10505258 | LAMP2 | c.751G>A (p.Val251Ile) c.294G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120446419T>A | CA518401636 | LAMP2 | c.750A>T (p.Ser250=) c.293A>T | |
| X | g.120446419T>C | CA518401637 | LAMP2 | c.750A>G (p.Ser250=) c.293A>G | |
| X | g.120446419T>G | CA10505259 | LAMP2 | c.750A>C (p.Ser250=) c.293A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120446419T= | CA2454872312 | LAMP2 | c.750A= (p.Ser250=) c.293A= | |
| X | g.120446420G>A | CA414401073 | LAMP2 | c.749C>T (p.Ser250Leu) c.292C>T | |
| X | g.120446420G>C | CA414401074 | LAMP2 | c.749C>G (p.Ser250Ter) c.292C>G | dbSNP |
| X | g.120446420G>T | CA414401076 | LAMP2 | c.749C>A (p.Ser250Ter) c.292C>A | dbSNP |
| X | g.120446421A>C | CA414401078 | LAMP2 | c.748T>G (p.Ser250Ala) c.291T>G | |
| X | g.120446421A>G | CA414401079 | LAMP2 | c.748T>C (p.Ser250Pro) c.291T>C | |
| X | g.120446421A>T | CA414401081 | LAMP2 | c.748T>A (p.Ser250Thr) c.291T>A | |
| X | g.120446421_120446431delinsAAGCAACCTTC | CA2454872313 | LAMP2 | c.742-4_748delinsGAAGGTTGCTT c.285-4_291delinsGAAGGTTGCTT | |
| X | g.120446422A>C | CA518401639 | LAMP2 | c.747T>G (p.Ala249=) c.290T>G | gnomAD v4 |
| X | g.120446422A>G | CA518401640 | LAMP2 | c.747T>C (p.Ala249=) c.290T>C | ClinVar gnomAD v4 |
| X | g.120446422A>T | CA518401641 | LAMP2 | c.747T>A (p.Ala249=) c.290T>A | |
| X | g.120446424_120446433del | CA870731188 | LAMP2 | c.742-4_747del c.285-4_290del | dbSNP |
| X | g.120446423G>A | CA414401084 | LAMP2 | c.746C>T (p.Ala249Val) c.289C>T | |
| X | g.120446423G>C | CA414401086 | LAMP2 | c.746C>G (p.Ala249Gly) c.289C>G | |
| X | g.120446423G>T | CA414401083 | LAMP2 | c.746C>A (p.Ala249Asp) c.289C>A | |
| X | g.120446424C>A | CA414401087 | LAMP2 | c.745G>T (p.Ala249Ser) c.288G>T | |
| X | g.120446424C= | CA2454872314 | LAMP2 | c.745G= (p.Ala249=) c.288G= | |
| X | g.120446424C>G | CA414401089 | LAMP2 | c.745G>C (p.Ala249Pro) c.288G>C | |
| X | g.120446424C>T | CA414401091 | LAMP2 | c.745G>A (p.Ala249Thr) c.288G>A | ClinVar dbSNP gnomAD v4 |
| X | g.120446425A>C | CA518401643 | LAMP2 | c.744T>G (p.Val248=) c.287T>G | |
| X | g.120446425A>G | CA518401644 | LAMP2 | c.744T>C (p.Val248=) c.287T>C | |
| X | g.120446425A>T | CA518401642 | LAMP2 | c.744T>A (p.Val248=) c.287T>A | |
| X | g.120446426A>C | CA414401092 | LAMP2 | c.743T>G (p.Val248Gly) c.286T>G | |
| X | g.120446426A>G | CA414401093 | LAMP2 | c.743T>C (p.Val248Ala) c.286T>C | |
| X | g.120446426A>T | CA414401095 | LAMP2 | c.743T>A (p.Val248Asp) c.286T>A | |
| X | g.120446427C>A | CA414401100 | LAMP2 | c.742G>T (p.Val248Phe) c.285G>T | |
| X | g.120446427C>G | CA414401097 | LAMP2 | c.742G>C (p.Val248Leu) c.285G>C | |
| X | g.120446427C>T | CA414401099 | LAMP2 | c.742G>A (p.Val248Ile) c.285G>A | |
| X | g.120446428C>A | CA414401102 | LAMP2 | c.742-1G>T (n.742-1G>T) c.285-1G>T | |
| X | g.120446428C>G | CA414401103 | LAMP2 | c.742-1G>C (n.742-1G>C) c.285-1G>C | |
| X | g.120446428C>T | CA414401104 | LAMP2 | c.742-1G>A (n.742-1G>A) c.285-1G>A | |
| X | g.120446429T>A | CA414401105 | LAMP2 | c.742-2A>T (n.742-2A>T) c.285-2A>T | |
| X | g.120446429T>C | CA414401107 | LAMP2 | c.742-2A>G (n.742-2A>G) c.285-2A>G | |
| X | g.120446429T>G | CA414401108 | LAMP2 | c.742-2A>C (n.742-2A>C) c.285-2A>C | |
| X | g.120446430_120446431insATCCTGAGTGATGTT | CA2739013449 | LAMP2 | c.742-2_742-1insCATCACTCAGGATAA (n.742-2_742-1insCATCACTCAGGATAA) c.285-2_285-1insCATCACTCAGGATAA | dbSNP |
| X | g.120446430_120446431insATCCTGAGTGATGTTCAGCTGCAGCCCCATGGTAGC | CA2739013451 | LAMP2 | c.742-4_742-3insGCTACCATGGGGCTGCAGCTGAACATCACTCAGGAT (n.742-4_742-3insGCTACCATGGGGCTGCAGCTGAACATCACTCAGGAT) c.285-4_285-3insGCTACCATGGGGCTGCAGCTGAACATCACTCAGGAT | dbSNP |
| X | g.120446431_120446434delinsCAGG | CA2454872315 | LAMP2 | c.742-7_742-4delinsCCTG (n.742-7_742-4delinsCCTG) c.285-7_285-4delinsCCTG | |
| X | g.120446434_120446436del | CA10505260 | LAMP2 | c.742-7_742-5del (n.742-7_742-5del) c.285-7_285-5del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120446434G>A | CA2454872316 | LAMP2 | c.742-7C>T (n.742-7C>T) c.285-7C>T | dbSNP |
| X | g.120446434G>C | CA2738962675 | LAMP2 | c.742-7C>G (n.742-7C>G) c.285-7C>G | dbSNP |
| X | g.120446434G= | CA2454872317 | LAMP2 | c.742-7C= (n.742-7C=) c.285-7C= | |
| X | g.120446434_120446437delinsGAGA | CA2454872318 | LAMP2 | c.742-10_742-7delinsTCTC (n.742-10_742-7delinsTCTC) c.285-10_285-7delinsTCTC | |
| X | g.120446435A>G | CA2739273746 | LAMP2 | c.742-8T>C (n.742-8T>C) c.285-8T>C | ClinVar |
| X | g.120446435A>T | CA2739013545 | LAMP2 | c.742-8T>A (n.742-8T>A) c.285-8T>A | dbSNP |
| X | g.120446442_120446444del | CA333624 | LAMP2 | c.742-10_742-8del (n.742-10_742-8del) c.285-10_285-8del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120446438A= | CA2454872320 | LAMP2 | c.742-11T= (n.742-11T=) c.285-11T= | |
| X | g.120446438A>G | CA2454872319 | LAMP2 | c.742-11T>C (n.742-11T>C) c.285-11T>C | ClinVar dbSNP gnomAD v4 |
| X | g.120446439_120446443delinsGAAGA | CA2454872321 | LAMP2 | c.742-16_742-12delinsTCTTC (n.742-16_742-12delinsTCTTC) c.285-16_285-12delinsTCTTC | |
| X | g.120446443_120446446del | CA644130958 | LAMP2 | c.742-16_742-13del (n.742-16_742-13del) c.285-16_285-13del | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120446442G>A | CA658469865 | LAMP2 | c.742-15C>T (n.742-15C>T) c.285-15C>T | COSMIC |
| X | g.120446442G>C | CA2454872323 | LAMP2 | c.742-15C>G (n.742-15C>G) c.285-15C>G | dbSNP |
| X | g.120446442G= | CA2454872322 | LAMP2 | c.742-15C= (n.742-15C=) c.285-15C= | |
| X | g.120446442G>T | CA2694598076 | LAMP2 | c.742-15C>A (n.742-15C>A) c.285-15C>A | gnomAD v4 |
| X | g.120446443A>G | CA2694598077 | LAMP2 | c.742-16T>C (n.742-16T>C) c.285-16T>C | gnomAD v4 |
| X | g.120446443A>T | CA658469869 | LAMP2 | c.742-16T>A (n.742-16T>A) c.285-16T>A | COSMIC |
| X | g.120446445A>G | CA2823249566 | LAMP2 | c.742-18T>C (n.742-18T>C) c.285-18T>C | |
| X | g.120446447G>A | CA2694598078 | LAMP2 | c.742-20C>T (n.742-20C>T) c.285-20C>T | gnomAD v4 |
| X | g.120446447G>C | CA658469884 | LAMP2 | c.742-20C>G (n.742-20C>G) c.285-20C>G | COSMIC |
| X | g.120446448G>A | CA2694598079 | LAMP2 | c.742-21C>T (n.742-21C>T) c.285-21C>T | gnomAD v4 |
| X | g.120446448G>C | CA10505261 | LAMP2 | c.742-21C>G (n.742-21C>G) c.285-21C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120446448G= | CA2454872324 | LAMP2 | c.742-21C= (n.742-21C=) c.285-21C= | |
| X | g.120446449A>G | CA2694598080 | LAMP2 | c.742-22T>C (n.742-22T>C) c.285-22T>C | gnomAD v4 |
| X | g.120446452del | CA2579692158 | LAMP2 | c.742-22del (n.742-22del) c.285-22del | gnomAD v4 |
| X | g.120446450A>T | CA658469885 | LAMP2 | c.742-23T>A (n.742-23T>A) c.285-23T>A | COSMIC |
| X | g.120446452A>G | CA2579692159 | LAMP2 | c.742-25T>C (n.742-25T>C) c.285-25T>C | |
| X | g.120446453G= | CA2454872325 | LAMP2 | c.742-26C= (n.742-26C=) c.285-26C= | |
| X | g.120446453G>T | CA644130959 | LAMP2 | c.742-26C>A (n.742-26C>A) c.285-26C>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120446454G>T | CA2694598081 | LAMP2 | c.742-27C>A (n.742-27C>A) c.285-27C>A | gnomAD v4 |
| X | g.120446457C= | CA2454872326 | LAMP2 | c.742-30G= (n.742-30G=) c.285-30G= | |
| X | g.120446457C>T | CA10505262 | LAMP2 | c.742-30G>A (n.742-30G>A) c.285-30G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120446459G>C | CA644130960 | LAMP2 | c.742-32C>G (n.742-32C>G) c.285-32C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120446459G= | CA2454872327 | LAMP2 | c.742-32C= (n.742-32C=) c.285-32C= | |
| X | g.120446460G= | CA2454872329 | LAMP2 | c.742-33C= (n.742-33C=) c.285-33C= | |
| X | g.120446460G>T | CA2454872328 | LAMP2 | c.742-33C>A (n.742-33C>A) c.285-33C>A | dbSNP gnomAD v4 |
| X | g.120446461T>C | CA870731224 | LAMP2 | c.742-34A>G (n.742-34A>G) c.285-34A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120446461T= | CA2454872330 | LAMP2 | c.742-34A= (n.742-34A=) c.285-34A= | |
| X | g.120446463del | CA2579692160 | LAMP2 | c.742-36del (n.742-36del) c.285-36del | |
| X | g.120446463A>G | CA2694598082 | LAMP2 | c.742-36T>C (n.742-36T>C) c.285-36T>C | gnomAD v4 |
| X | g.120446464G= | CA2454872331 | LAMP2 | c.742-37C= (n.742-37C=) c.285-37C= | |
| X | g.120446464G>T | CA10505263 | LAMP2 | c.742-37C>A (n.742-37C>A) c.285-37C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120446466T>C | CA2694598083 | LAMP2 | c.742-39A>G (n.742-39A>G) c.285-39A>G | gnomAD v4 |
| X | g.120446467A= | CA2454872332 | LAMP2 | c.742-40T= (n.742-40T=) c.285-40T= | |
| X | g.120446467A>G | CA2454872333 | LAMP2 | c.742-40T>C (n.742-40T>C) c.285-40T>C | dbSNP gnomAD v4 |
| X | g.120446469A= | CA2454872334 | LAMP2 | c.742-42T= (n.742-42T=) c.285-42T= | |
| X | g.120446469A>G | CA2454872335 | LAMP2 | c.742-42T>C (n.742-42T>C) c.285-42T>C | dbSNP |
| X | g.120446472del | CA2530507340 | LAMP2 | c.742-42del (n.742-42del) c.285-42del | |
| X | g.120446472A>G | CA2694598084 | LAMP2 | c.742-45T>C (n.742-45T>C) c.285-45T>C | gnomAD v4 |
| X | g.120446473G>T | CA2694598085 | LAMP2 | c.742-46C>A (n.742-46C>A) c.285-46C>A | gnomAD v4 |