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 |
|---|---|---|---|---|---|
| 1 | g.94042881G>A | CA418826606 | ABCA4 | c.3208C>T (p.Leu1070=) c.-64-2792C>T (n.-64-2792C>T) | COSMIC |
| 1 | g.94042881G>C | CA341292345 | ABCA4 | c.3208C>G (p.Leu1070Val) c.-64-2792C>G (n.-64-2792C>G) | |
| 1 | g.94042881G>T | CA341292346 | ABCA4 | c.3208C>A (p.Leu1070Met) c.-64-2792C>A (n.-64-2792C>A) | |
| 1 | g.94042882C>A | CA341292347 | ABCA4 | c.3207G>T (p.Lys1069Asn) c.-64-2793G>T (n.-64-2793G>T) | |
| 1 | g.94042882C= | CA1181420683 | ABCA4 | c.3207G= (p.Lys1069=) c.-64-2793G= (n.-64-2793G=) | |
| 1 | g.94042882C>G | CA341292348 | ABCA4 | c.3207G>C (p.Lys1069Asn) c.-64-2793G>C (n.-64-2793G>C) | |
| 1 | g.94042882C>T | CA418826608 | ABCA4 | c.3207G>A (p.Lys1069=) c.-64-2793G>A (n.-64-2793G>A) | |
| 1 | g.94042883T>A | CA341292350 | ABCA4 | c.3206A>T (p.Lys1069Met) c.-64-2794A>T (n.-64-2794A>T) | |
| 1 | g.94042883T>C | CA958009 | ABCA4 | c.3206A>G (p.Lys1069Arg) c.-64-2794A>G (n.-64-2794A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94042883T>G | CA341292349 | ABCA4 | c.3206A>C (p.Lys1069Thr) c.-64-2794A>C (n.-64-2794A>C) | |
| 1 | g.94042883T= | CA1181420684 | ABCA4 | c.3206A= (p.Lys1069=) c.-64-2794A= (n.-64-2794A=) | |
| 1 | g.94042883_94042885delinsTTT | CA1140725860 | ABCA4 | c.3204_3206delinsAAA (p.Arg1068=) c.-64-2796_-64-2794delinsAAA (n.-64-2796_-64-2794delinsAAA) | |
| 1 | g.94042884_94042885dup | CA227091 | ABCA4 | c.3205_3206dup (p.Leu1070SerfsTer15) c.-64-2795_-64-2794dup (n.-64-2795_-64-2794dup) | ClinVar dbSNP |
| 1 | g.94042884T>A | CA341292351 | ABCA4 | c.3205A>T (p.Lys1069Ter) c.-64-2795A>T (n.-64-2795A>T) | |
| 1 | g.94042884T>C | CA341292352 | ABCA4 | c.3205A>G (p.Lys1069Glu) c.-64-2795A>G (n.-64-2795A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94042884T>G | CA341292353 | ABCA4 | c.3205A>C (p.Lys1069Gln) c.-64-2795A>C (n.-64-2795A>C) | |
| 1 | g.94042884T= | CA1181420685 | ABCA4 | c.3205A= (p.Lys1069=) c.-64-2795A= (n.-64-2795A=) | |
| 1 | g.94042885T>A | CA341292354 | ABCA4 | c.3204A>T (p.Arg1068Ser) c.-64-2796A>T (n.-64-2796A>T) | |
| 1 | g.94042885T>C | CA958010 | ABCA4 | c.3204A>G (p.Arg1068=) c.-64-2796A>G (n.-64-2796A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94042885T>G | CA341292355 | ABCA4 | c.3204A>C (p.Arg1068Ser) c.-64-2796A>C (n.-64-2796A>C) | |
| 1 | g.94042885T= | CA1149137550 | ABCA4 | c.3204A= (p.Arg1068=) c.-64-2796A= (n.-64-2796A=) | |
| 1 | g.94042886C>A | CA26865717 | ABCA4 | c.3203G>T (p.Arg1068Ile) c.-64-2797G>T (n.-64-2797G>T) | dbSNP |
| 1 | g.94042886C= | CA1181420686 | ABCA4 | c.3203G= (p.Arg1068=) c.-64-2797G= (n.-64-2797G=) | |
| 1 | g.94042886C>G | CA341292356 | ABCA4 | c.3203G>C (p.Arg1068Thr) c.-64-2797G>C (n.-64-2797G>C) | |
| 1 | g.94042886C>T | CA341292357 | ABCA4 | c.3203G>A (p.Arg1068Lys) c.-64-2797G>A (n.-64-2797G>A) | |
| 1 | g.94042887T>A | CA341292359 | ABCA4 | c.3202A>T (p.Arg1068Ter) c.-64-2798A>T (n.-64-2798A>T) | |
| 1 | g.94042887T>C | CA341292358 | ABCA4 | c.3202A>G (p.Arg1068Gly) c.-64-2798A>G (n.-64-2798A>G) | gnomAD v4 |
| 1 | g.94042887T>G | CA418826610 | ABCA4 | c.3202A>C (p.Arg1068=) c.-64-2798A>C (n.-64-2798A>C) | |
| 1 | g.94042888C>A | CA341292360 | ABCA4 | c.3201G>T (p.Gln1067His) c.-64-2799G>T (n.-64-2799G>T) | |
| 1 | g.94042888C>G | CA341292361 | ABCA4 | c.3201G>C (p.Gln1067His) c.-64-2799G>C (n.-64-2799G>C) | |
| 1 | g.94042888C>T | CA418826611 | ABCA4 | c.3201G>A (p.Gln1067=) c.-64-2799G>A (n.-64-2799G>A) | |
| 1 | g.94042889T>A | CA341292362 | ABCA4 | c.3200A>T (p.Gln1067Leu) c.-64-2800A>T (n.-64-2800A>T) | |
| 1 | g.94042889T>C | CA341292363 | ABCA4 | c.3200A>G (p.Gln1067Arg) c.-64-2800A>G (n.-64-2800A>G) | |
| 1 | g.94042889T>G | CA341292364 | ABCA4 | c.3200A>C (p.Gln1067Pro) c.-64-2800A>C (n.-64-2800A>C) | |
| 1 | g.94042890G>A | CA341292365 | ABCA4 | c.3199C>T (p.Gln1067Ter) c.-64-2801C>T (n.-64-2801C>T) | |
| 1 | g.94042890G>C | CA341292366 | ABCA4 | c.3199C>G (p.Gln1067Glu) c.-64-2801C>G (n.-64-2801C>G) | |
| 1 | g.94042890G>T | CA341292367 | ABCA4 | c.3199C>A (p.Gln1067Lys) c.-64-2801C>A (n.-64-2801C>A) | |
| 1 | g.94042891C>A | CA341292368 | ABCA4 | c.3198G>T (p.Met1066Ile) c.-64-2802G>T (n.-64-2802G>T) | dbSNP |
| 1 | g.94042891C= | CA1181420687 | ABCA4 | c.3198G= (p.Met1066=) c.-64-2802G= (n.-64-2802G=) | |
| 1 | g.94042891C>G | CA341292369 | ABCA4 | c.3198G>C (p.Met1066Ile) c.-64-2802G>C (n.-64-2802G>C) | |
| 1 | g.94042891C>T | CA341292370 | ABCA4 | c.3198G>A (p.Met1066Ile) c.-64-2802G>A (n.-64-2802G>A) | |
| 1 | g.94042892A= | CA1181420688 | ABCA4 | c.3197T= (p.Met1066=) c.-64-2803T= (n.-64-2803T=) | |
| 1 | g.94042892A>C | CA958011 | ABCA4 | c.3197T>G (p.Met1066Arg) c.-64-2803T>G (n.-64-2803T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94042892A>G | CA958012 | ABCA4 | c.3197T>C (p.Met1066Thr) c.-64-2803T>C (n.-64-2803T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94042892A>T | CA341292371 | ABCA4 | c.3197T>A (p.Met1066Lys) c.-64-2803T>A (n.-64-2803T>A) | |
| 1 | g.94042893T>A | CA341292374 | ABCA4 | c.3196A>T (p.Met1066Leu) c.-64-2804A>T (n.-64-2804A>T) | |
| 1 | g.94042893T>C | CA341292373 | ABCA4 | c.3196A>G (p.Met1066Val) c.-64-2804A>G (n.-64-2804A>G) | |
| 1 | g.94042893T>G | CA341292372 | ABCA4 | c.3196A>C (p.Met1066Leu) c.-64-2804A>C (n.-64-2804A>C) | |
| 1 | g.94042894G>A | CA418826620 | ABCA4 | c.3195C>T (p.Gly1065=) c.-64-2805C>T (n.-64-2805C>T) | |
| 1 | g.94042894G>C | CA418826618 | ABCA4 | c.3195C>G (p.Gly1065=) c.-64-2805C>G (n.-64-2805C>G) |