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.120448887C>T | CA2579692189 | LAMP2 | c.556+83G>A (n.556+83G>A) c.99+83G>A | |
| X | g.120448889G>T | CA2694598281 | LAMP2 | c.556+81C>A (n.556+81C>A) c.99+81C>A | gnomAD v4 |
| X | g.120448892_120448894del | CA2694598282 | LAMP2 | c.556+78_556+80del (n.556+78_556+80del) c.99+78_99+80del | gnomAD v4 |
| X | g.120448891T>A | CA2694598283 | LAMP2 | c.556+79A>T (n.556+79A>T) c.99+79A>T | gnomAD v4 |
| X | g.120448892A>T | CA2579692190 | LAMP2 | c.556+78T>A (n.556+78T>A) c.99+78T>A | |
| X | g.120448893A= | CA2454873090 | LAMP2 | c.556+77T= (n.556+77T=) c.99+77T= | |
| X | g.120448893A>G | CA2454873091 | LAMP2 | c.556+77T>C (n.556+77T>C) c.99+77T>C | dbSNP |
| X | g.120448894T>C | CA2823250073 | LAMP2 | c.556+76A>G (n.556+76A>G) c.99+76A>G | |
| X | g.120448895G>T | CA2579692191 | LAMP2 | c.556+75C>A (n.556+75C>A) c.99+75C>A | gnomAD v4 |
| X | g.120448897C>A | CA2694598284 | LAMP2 | c.556+73G>T (n.556+73G>T) c.99+73G>T | gnomAD v4 |
| X | g.120448900C>T | CA2823250074 | LAMP2 | c.556+70G>A (n.556+70G>A) c.99+70G>A | |
| X | g.120448902A= | CA2454873092 | LAMP2 | c.556+68T= (n.556+68T=) c.99+68T= | |
| X | g.120448902A>G | CA2454873093 | LAMP2 | c.556+68T>C (n.556+68T>C) c.99+68T>C | dbSNP gnomAD v4 |
| X | g.120448904G>T | CA2579692192 | LAMP2 | c.556+66C>A (n.556+66C>A) c.99+66C>A | |
| X | g.120448908G>A | CA1136815694 | LAMP2 | c.556+62C>T (n.556+62C>T) c.99+62C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448908G= | CA2454873094 | LAMP2 | c.556+62C= (n.556+62C=) c.99+62C= | |
| X | g.120448912C= | CA2454873095 | LAMP2 | c.556+58G= (n.556+58G=) c.99+58G= | |
| X | g.120448912C>T | CA870734073 | LAMP2 | c.556+58G>A (n.556+58G>A) c.99+58G>A | dbSNP gnomAD v4 |
| X | g.120448913C>T | CA2823250078 | LAMP2 | c.556+57G>A (n.556+57G>A) c.99+57G>A | |
| X | g.120448914T>C | CA2579692193 | LAMP2 | c.556+56A>G (n.556+56A>G) c.99+56A>G | |
| X | g.120448915G>T | CA2579692194 | LAMP2 | c.556+55C>A (n.556+55C>A) c.99+55C>A | gnomAD v4 |
| X | g.120448916del | CA2562201856 | LAMP2 | c.556+55del (n.556+55del) c.99+55del | |
| X | g.120448916G>A | CA2694598285 | LAMP2 | c.556+54C>T (n.556+54C>T) c.99+54C>T | gnomAD v4 |
| X | g.120448916G>T | CA2694598286 | LAMP2 | c.556+54C>A (n.556+54C>A) c.99+54C>A | gnomAD v4 |
| X | g.120448919T>C | CA10505291 | LAMP2 | c.556+51A>G (n.556+51A>G) c.99+51A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120448919T= | CA2454873096 | LAMP2 | c.556+51A= (n.556+51A=) c.99+51A= | |
| X | g.120448920A>G | CA2694598287 | LAMP2 | c.556+50T>C (n.556+50T>C) c.99+50T>C | gnomAD v4 |
| X | g.120448920A>T | CA2694598288 | LAMP2 | c.556+50T>A (n.556+50T>A) c.99+50T>A | gnomAD v4 |
| X | g.120448921C>T | CA2506875797 | LAMP2 | c.556+49G>A (n.556+49G>A) c.99+49G>A | |
| X | g.120448925A>T | CA2694598289 | LAMP2 | c.556+45T>A (n.556+45T>A) c.99+45T>A | gnomAD v4 |
| X | g.120448926C= | CA2454873097 | LAMP2 | c.556+44G= (n.556+44G=) c.99+44G= | |
| X | g.120448926C>G | CA644131195 | LAMP2 | c.556+44G>C (n.556+44G>C) c.99+44G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448926C>T | CA2694598290 | LAMP2 | c.556+44G>A (n.556+44G>A) c.99+44G>A | gnomAD v4 |
| X | g.120448929T>C | CA2694598291 | LAMP2 | c.556+41A>G (n.556+41A>G) c.99+41A>G | gnomAD v4 |
| X | g.120448930T>C | CA1136815697 | LAMP2 | c.556+40A>G (n.556+40A>G) c.99+40A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448930T>G | CA2694598292 | LAMP2 | c.556+40A>C (n.556+40A>C) c.99+40A>C | gnomAD v4 |
| X | g.120448930T= | CA2454873098 | LAMP2 | c.556+40A= (n.556+40A=) c.99+40A= | |
| X | g.120448933A= | CA2454873099 | LAMP2 | c.556+37T= (n.556+37T=) c.99+37T= | |
| X | g.120448933A>C | CA2454873100 | LAMP2 | c.556+37T>G (n.556+37T>G) c.99+37T>G | dbSNP |
| X | g.120448936A>G | CA2694598293 | LAMP2 | c.556+34T>C (n.556+34T>C) c.99+34T>C | gnomAD v4 |
| X | g.120448937G>T | CA2694598294 | LAMP2 | c.556+33C>A (n.556+33C>A) c.99+33C>A | gnomAD v4 |
| X | g.120448938del | CA2579692195 | LAMP2 | c.556+33del (n.556+33del) c.99+33del | |
| X | g.120448938G>T | CA2694598295 | LAMP2 | c.556+32C>A (n.556+32C>A) c.99+32C>A | gnomAD v4 |
| X | g.120448939A>G | CA2694598296 | LAMP2 | c.556+31T>C (n.556+31T>C) c.99+31T>C | gnomAD v4 |
| X | g.120448942del | CA2579692196 | LAMP2 | c.556+29del (n.556+29del) c.99+29del | |
| X | g.120448943A>C | CA2694598297 | LAMP2 | c.556+27T>G (n.556+27T>G) c.99+27T>G | gnomAD v4 |
| X | g.120448945G>T | CA2694598298 | LAMP2 | c.556+25C>A (n.556+25C>A) c.99+25C>A | gnomAD v4 |
| X | g.120448946T>A | CA2694598299 | LAMP2 | c.556+24A>T (n.556+24A>T) c.99+24A>T | gnomAD v4 |
| X | g.120448948del | CA2694598300 | LAMP2 | c.556+22del (n.556+22del) c.99+22del | gnomAD v4 |
| X | g.120448948G>A | CA2694598301 | LAMP2 | c.556+22C>T (n.556+22C>T) c.99+22C>T | gnomAD v4 |
| X | g.120448948G>C | CA10505292 | LAMP2 | c.556+22C>G (n.556+22C>G) c.99+22C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448948G= | CA2454873101 | LAMP2 | c.556+22C= (n.556+22C=) c.99+22C= | |
| X | g.120448950G>A | CA870734101 | LAMP2 | c.556+20C>T (n.556+20C>T) c.99+20C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448950G>C | CA870734090 | LAMP2 | c.556+20C>G (n.556+20C>G) c.99+20C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448950G= | CA2454873102 | LAMP2 | c.556+20C= (n.556+20C=) c.99+20C= | |
| X | g.120448953A= | CA2454873103 | LAMP2 | c.556+17T= (n.556+17T=) c.99+17T= | |
| X | g.120448953A>C | CA335013566 | LAMP2 | c.556+17T>G (n.556+17T>G) c.99+17T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120448953A>G | CA870734103 | LAMP2 | c.556+17T>C (n.556+17T>C) c.99+17T>C | dbSNP |
| X | g.120448956T>A | CA2454873105 | LAMP2 | c.556+14A>T (n.556+14A>T) c.99+14A>T | dbSNP |
| X | g.120448956T>C | CA644131196 | LAMP2 | c.556+14A>G (n.556+14A>G) c.99+14A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448956T= | CA2454873104 | LAMP2 | c.556+14A= (n.556+14A=) c.99+14A= | |
| X | g.120448957A= | CA2454873106 | LAMP2 | c.556+13T= (n.556+13T=) c.99+13T= | |
| X | g.120448957A>T | CA644131197 | LAMP2 | c.556+13T>A (n.556+13T>A) c.99+13T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120448960C>T | CA2580100301 | LAMP2 | c.556+10G>A (n.556+10G>A) c.99+10G>A | ClinVar gnomAD v4 |
| X | g.120448961T>C | CA2454873108 | LAMP2 | c.556+9A>G (n.556+9A>G) c.99+9A>G | dbSNP |
| X | g.120448961T= | CA2454873107 | LAMP2 | c.556+9A= (n.556+9A=) c.99+9A= | |
| X | g.120448962T>G | CA2694598302 | LAMP2 | c.556+8A>C (n.556+8A>C) c.99+8A>C | gnomAD v4 |
| X | g.120448964A>G | CA2694598303 | LAMP2 | c.556+6T>C (n.556+6T>C) c.99+6T>C | gnomAD v4 |
| X | g.120448965C>T | CA2694598304 | LAMP2 | c.556+5G>A (n.556+5G>A) c.99+5G>A | gnomAD v4 |
| X | g.120448967C= | CA2454873109 | LAMP2 | c.556+3G= (n.556+3G=) c.99+3G= | |
| X | g.120448967C>T | CA10505293 | LAMP2 | c.556+3G>A (n.556+3G>A) c.99+3G>A | dbSNP ExAC gnomAD v2 |
| X | g.120448968A>C | CA414401821 | LAMP2 | c.556+2T>G (n.556+2T>G) c.99+2T>G | |
| X | g.120448968A>G | CA414401822 | LAMP2 | c.556+2T>C (n.556+2T>C) c.99+2T>C | gnomAD v4 |
| X | g.120448968A>T | CA414401825 | LAMP2 | c.556+2T>A (n.556+2T>A) c.99+2T>A | |
| X | g.120448969C>A | CA414401826 | LAMP2 | c.556+1G>T (n.556+1G>T) c.99+1G>T | COSMIC COSMIC COSMIC |
| X | g.120448969C>G | CA414401827 | LAMP2 | c.556+1G>C (n.556+1G>C) c.99+1G>C | |
| X | g.120448969C>T | CA414401828 | LAMP2 | c.556+1G>A (n.556+1G>A) c.99+1G>A | |
| X | g.120448970C>A | CA414401830 | LAMP2 | c.556G>T (p.Glu186Ter) c.99G>T | |
| X | g.120448970C>G | CA414401833 | LAMP2 | c.556G>C (p.Glu186Gln) c.99G>C | |
| X | g.120448970C>T | CA414401831 | LAMP2 | c.556G>A (p.Glu186Lys) c.99G>A | |
| X | g.120448971A>C | CA414401834 | LAMP2 | c.555T>G (p.Asn185Lys) c.98T>G | gnomAD v4 |
| X | g.120448971A>G | CA518401904 | LAMP2 | c.555T>C (p.Asn185=) c.98T>C | |
| X | g.120448971A>T | CA414401836 | LAMP2 | c.555T>A (p.Asn185Lys) c.98T>A | |
| X | g.120448972T>A | CA414401837 | LAMP2 | c.554A>T (p.Asn185Ile) c.97A>T | |
| X | g.120448972T>C | CA414401838 | LAMP2 | c.554A>G (p.Asn185Ser) c.97A>G | ClinVar dbSNP |
| X | g.120448972T>G | CA414401840 | LAMP2 | c.554A>C (p.Asn185Thr) c.97A>C | |
| X | g.120448972T= | CA2454873110 | LAMP2 | c.554A= (p.Asn185=) c.97A= | |
| X | g.120448973T>A | CA414401842 | LAMP2 | c.553A>T (p.Asn185Tyr) c.96A>T | |
| X | g.120448973T>C | CA414401843 | LAMP2 | c.553A>G (p.Asn185Asp) c.96A>G | |
| X | g.120448973T>G | CA414401845 | LAMP2 | c.553A>C (p.Asn185His) c.96A>C | |
| X | g.120448974T>A | CA518401905 | LAMP2 | c.552A>T (p.Thr184=) c.95A>T | |
| X | g.120448974T>C | CA518401906 | LAMP2 | c.552A>G (p.Thr184=) c.95A>G | |
| X | g.120448974T>G | CA518401907 | LAMP2 | c.552A>C (p.Thr184=) c.95A>C | |
| X | g.120448975G>A | CA414401846 | LAMP2 | c.551C>T (p.Thr184Ile) c.94C>T | gnomAD v4 |
| X | g.120448975G>C | CA414401848 | LAMP2 | c.551C>G (p.Thr184Arg) c.94C>G | |
| X | g.120448975G>T | CA414401849 | LAMP2 | c.551C>A (p.Thr184Lys) c.94C>A | gnomAD v4 |
| X | g.120448976T>A | CA414401850 | LAMP2 | c.550A>T (p.Thr184Ser) c.93A>T | |
| X | g.120448976T>C | CA414401853 | LAMP2 | c.550A>G (p.Thr184Ala) c.93A>G | |
| X | g.120448976T>G | CA414401851 | LAMP2 | c.550A>C (p.Thr184Pro) c.93A>C | |
| X | g.120448977G>A | CA518401908 | LAMP2 | c.549C>T (p.Ser183=) c.92C>T | |
| X | g.120448977G>C | CA414401854 | LAMP2 | c.549C>G (p.Ser183Arg) c.92C>G | |
| X | g.120448977G>T | CA414401855 | LAMP2 | c.549C>A (p.Ser183Arg) c.92C>A | |
| X | g.120448977_120448980delinsGCTC | CA2454873111 | LAMP2 | c.546_549delinsGAGC (p.Val182=) c.89_92delinsGAGC | |
| X | g.120448978C>A | CA414401856 | LAMP2 | c.548G>T (p.Ser183Ile) c.91G>T | |
| X | g.120448978C>G | CA414401857 | LAMP2 | c.548G>C (p.Ser183Thr) c.91G>C | |
| X | g.120448978C>T | CA414401858 | LAMP2 | c.548G>A (p.Ser183Asn) c.91G>A | gnomAD v4 |
| X | g.120448978_120448980delinsTA | CA16616435 | LAMP2 | c.546_548delinsTA (p.Ser183ThrfsTer?) c.89_91delinsTA | ClinVar dbSNP |
| X | g.120448979T>A | CA414401859 | LAMP2 | c.547A>T (p.Ser183Cys) c.90A>T | |
| X | g.120448979T>C | CA414401860 | LAMP2 | c.547A>G (p.Ser183Gly) c.90A>G | |
| X | g.120448979T>G | CA414401861 | LAMP2 | c.547A>C (p.Ser183Arg) c.90A>C | |
| X | g.120448980C>A | CA518401909 | LAMP2 | c.546G>T (p.Val182=) c.89G>T | ClinVar dbSNP |
| X | g.120448980C>G | CA518401910 | LAMP2 | c.546G>C (p.Val182=) c.89G>C | |
| X | g.120448980C>T | CA518401911 | LAMP2 | c.546G>A (p.Val182=) c.89G>A | |
| X | g.120448981A>C | CA414401863 | LAMP2 | c.545T>G (p.Val182Gly) c.88T>G | |
| X | g.120448981A>G | CA414401864 | LAMP2 | c.545T>C (p.Val182Ala) c.88T>C | |
| X | g.120448981A>T | CA414401866 | LAMP2 | c.545T>A (p.Val182Glu) c.88T>A | |
| X | g.120448982C>A | CA414401870 | LAMP2 | c.544G>T (p.Val182Leu) c.87G>T | gnomAD v4 |
| X | g.120448982C= | CA2454873112 | LAMP2 | c.544G= (p.Val182=) c.87G= | |
| X | g.120448982C>G | CA414401869 | LAMP2 | c.544G>C (p.Val182Leu) c.87G>C | |
| X | g.120448982C>T | CA414401868 | LAMP2 | c.544G>A (p.Val182Met) c.87G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120448983T>A | CA518401914 | LAMP2 | c.543A>T (p.Thr181=) c.86A>T | |
| X | g.120448983T>C | CA518401912 | LAMP2 | c.543A>G (p.Thr181=) c.86A>G | |
| X | g.120448983T>G | CA518401913 | LAMP2 | c.543A>C (p.Thr181=) c.86A>C | |
| X | g.120448984G>A | CA414401871 | LAMP2 | c.542C>T (p.Thr181Ile) c.85C>T | |
| X | g.120448984G>C | CA414401872 | LAMP2 | c.542C>G (p.Thr181Arg) c.85C>G | |
| X | g.120448984G>T | CA414401874 | LAMP2 | c.542C>A (p.Thr181Lys) c.85C>A |