Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.93997920_94002690del | CA10576058 | ABCA4 | c.6148-698_6670del c.2524-698_3046del | ClinVar |
1 | g.93997920_94002690delinsCTAGGGAGGTGCACA | CA645372243 | ABCA4 | c.6148-698_6670delinsTGTGCACCTCCCTAG c.2524-698_3046delinsTGTGCACCTCCCTAG | |
1 | g.94001900_94001902delinsGGA | CA1181398564 | ABCA4 | c.6238_6240delinsTCC (p.Ser2080=) n.654_656delinsTCC c.2614_2616delinsTCC (p.Ser872=) | |
1 | g.94001901G>A | CA341278214 | ABCA4 | c.6239C>T (p.Ser2080Phe) n.655C>T c.2615C>T (p.Ser872Phe) | dbSNP COSMIC COSMIC |
1 | g.94001901G>C | CA341278215 | ABCA4 | c.6239C>G (p.Ser2080Cys) n.655C>G c.2615C>G (p.Ser872Cys) | dbSNP |
1 | g.94001901G= | CA1181398571 | ABCA4 | c.6239C= (p.Ser2080=) n.655C= c.2615C= (p.Ser872=) | |
1 | g.94001901G>T | CA341278216 | ABCA4 | c.6239C>A (p.Ser2080Tyr) n.655C>A c.2615C>A (p.Ser872Tyr) | |
1 | g.94001901_94001905delinsGAGAG | CA1143538154 | ABCA4 | c.6235_6239delinsCTCTC (p.Leu2079=) n.651_655delinsCTCTC c.2611_2615delinsCTCTC (p.Leu871=) | |
1 | g.94001904_94001905del | CA227381 | ABCA4 | c.6238_6239del (p.Ser2080HisfsTer16) n.654_655del c.2614_2615del (p.Ser872HisfsTer16) | ClinVar dbSNP gnomAD v4 |
1 | g.94001902A= | CA1181398575 | ABCA4 | c.6238T= (p.Ser2080=) n.654T= c.2614T= (p.Ser872=) | |
1 | g.94001902A>C | CA341278217 | ABCA4 | c.6238T>G (p.Ser2080Ala) n.654T>G c.2614T>G (p.Ser872Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94001902A>G | CA341278218 | ABCA4 | c.6238T>C (p.Ser2080Pro) n.654T>C c.2614T>C (p.Ser872Pro) | |
1 | g.94001902A>T | CA341278219 | ABCA4 | c.6238T>A (p.Ser2080Thr) n.654T>A c.2614T>A (p.Ser872Thr) | |
1 | g.94001903G>A | CA418812030 | ABCA4 | c.6237C>T (p.Leu2079=) n.653C>T c.2613C>T (p.Leu871=) | gnomAD v4 |
1 | g.94001903G>C | CA418812032 | ABCA4 | c.6237C>G (p.Leu2079=) n.653C>G c.2613C>G (p.Leu871=) | |
1 | g.94001903G>T | CA418812040 | ABCA4 | c.6237C>A (p.Leu2079=) n.653C>A c.2613C>A (p.Leu871=) | |
1 | g.94001904A>C | CA341278220 | ABCA4 | c.6236T>G (p.Leu2079Arg) n.652T>G c.2612T>G (p.Leu871Arg) | |
1 | g.94001904A>G | CA341278221 | ABCA4 | c.6236T>C (p.Leu2079Pro) n.652T>C c.2612T>C (p.Leu871Pro) | |
1 | g.94001904A>T | CA341278222 | ABCA4 | c.6236T>A (p.Leu2079His) n.652T>A c.2612T>A (p.Leu871His) | ClinVar dbSNP |
1 | g.94001905G>A | CA956984 | ABCA4 | c.6235C>T (p.Leu2079Phe) n.651C>T c.2611C>T (p.Leu871Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001905G>C | CA341278223 | ABCA4 | c.6235C>G (p.Leu2079Val) n.651C>G c.2611C>G (p.Leu871Val) | dbSNP |
1 | g.94001905G= | CA1181398577 | ABCA4 | c.6235C= (p.Leu2079=) n.651C= c.2611C= (p.Leu871=) | |
1 | g.94001905G>T | CA341278224 | ABCA4 | c.6235C>A (p.Leu2079Ile) n.651C>A c.2611C>A (p.Leu871Ile) | |
1 | g.94001906T>A | CA341278226 | ABCA4 | c.6234A>T (p.Lys2078Asn) n.650A>T c.2610A>T (p.Lys870Asn) | |
1 | g.94001906T>C | CA418812064 | ABCA4 | c.6234A>G (p.Lys2078=) n.650A>G c.2610A>G (p.Lys870=) | |
1 | g.94001906T>G | CA341278225 | ABCA4 | c.6234A>C (p.Lys2078Asn) n.650A>C c.2610A>C (p.Lys870Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.94001906T= | CA1181398579 | ABCA4 | c.6234A= (p.Lys2078=) n.650A= c.2610A= (p.Lys870=) | |
1 | g.94001907T>A | CA341278227 | ABCA4 | c.6233A>T (p.Lys2078Ile) n.649A>T c.2609A>T (p.Lys870Ile) | |
1 | g.94001907T>C | CA341278229 | ABCA4 | c.6233A>G (p.Lys2078Arg) n.649A>G c.2609A>G (p.Lys870Arg) | |
1 | g.94001907T>G | CA341278228 | ABCA4 | c.6233A>C (p.Lys2078Thr) n.649A>C c.2609A>C (p.Lys870Thr) | |
1 | g.94001908T>A | CA341278230 | ABCA4 | c.6232A>T (p.Lys2078Ter) n.648A>T c.2608A>T (p.Lys870Ter) | |
1 | g.94001908T>C | CA341278231 | ABCA4 | c.6232A>G (p.Lys2078Glu) n.648A>G c.2608A>G (p.Lys870Glu) | gnomAD v4 |
1 | g.94001908T>G | CA26832584 | ABCA4 | c.6232A>C (p.Lys2078Gln) n.648A>C c.2608A>C (p.Lys870Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001908T= | CA1181398583 | ABCA4 | c.6232A= (p.Lys2078=) n.648A= c.2608A= (p.Lys870=) | |
1 | g.94001909C>A | CA418812082 | ABCA4 | c.6231G>T (p.Arg2077=) n.647G>T c.2607G>T (p.Arg869=) | |
1 | g.94001909C>G | CA418812085 | ABCA4 | c.6231G>C (p.Arg2077=) n.647G>C c.2607G>C (p.Arg869=) | |
1 | g.94001909C>T | CA418812083 | ABCA4 | c.6231G>A (p.Arg2077=) n.647G>A c.2607G>A (p.Arg869=) | |
1 | g.94001910C>A | CA341278232 | ABCA4 | c.6230G>T (p.Arg2077Leu) n.646G>T c.2606G>T (p.Arg869Leu) | ClinVar |
1 | g.94001910C= | CA1181398586 | ABCA4 | c.6230G= (p.Arg2077=) n.646G= c.2606G= (p.Arg869=) | |
1 | g.94001910C>G | CA341278233 | ABCA4 | c.6230G>C (p.Arg2077Pro) n.646G>C c.2606G>C (p.Arg869Pro) | |
1 | g.94001910C>T | CA10602409 | ABCA4 | c.6230G>A (p.Arg2077Gln) n.646G>A c.2606G>A (p.Arg869Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001911G>A | CA227380 | ABCA4 | c.6229C>T (p.Arg2077Trp) n.645C>T c.2605C>T (p.Arg869Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001911G>C | CA227379 | ABCA4 | c.6229C>G (p.Arg2077Gly) n.645C>G c.2605C>G (p.Arg869Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001911G= | CA1140725999 | ABCA4 | c.6229C= (p.Arg2077=) n.645C= c.2605C= (p.Arg869=) | |
1 | g.94001911G>T | CA418812094 | ABCA4 | c.6229C>A (p.Arg2077=) n.645C>A c.2605C>A (p.Arg869=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001912del | CA2586966862 | ABCA4 | c.6228del (p.Lys2076AsnfsTer?) n.644del c.2604del (p.Lys868AsnfsTer?) | |
1 | g.94001912C>A | CA341278234 | ABCA4 | c.6228G>T (p.Lys2076Asn) n.644G>T c.2604G>T (p.Lys868Asn) | |
1 | g.94001912C= | CA1146514378 | ABCA4 | c.6228G= (p.Lys2076=) n.644G= c.2604G= (p.Lys868=) | |
1 | g.94001912C>G | CA341278235 | ABCA4 | c.6228G>C (p.Lys2076Asn) n.644G>C c.2604G>C (p.Lys868Asn) | |
1 | g.94001912C>T | CA26832600 | ABCA4 | c.6228G>A (p.Lys2076=) n.644G>A c.2604G>A (p.Lys868=) | dbSNP gnomAD v4 |