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.93997930_93997960dup | CA524697312 | ABCA4 | c.6639_6669dup (p.Ser2224LeufsTer37) c.3015_3045dup (p.Ser1016LeufsTer37) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997932G>A | CA227425 | ABCA4 | c.6658C>T (p.Gln2220Ter) c.3034C>T (p.Gln1012Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997932G>C | CA341276370 | ABCA4 | c.6658C>G (p.Gln2220Glu) c.3034C>G (p.Gln1012Glu) | |
1 | g.93997932G= | CA1140725934 | ABCA4 | c.6658C= (p.Gln2220=) c.3034C= (p.Gln1012=) | |
1 | g.93997932G>T | CA956831 | ABCA4 | c.6658C>A (p.Gln2220Lys) c.3034C>A (p.Gln1012Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93997933G>A | CA418808373 | ABCA4 | c.6657C>T (p.Phe2219=) c.3033C>T (p.Phe1011=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997933G>C | CA341276371 | ABCA4 | c.6657C>G (p.Phe2219Leu) c.3033C>G (p.Phe1011Leu) | |
1 | g.93997933G= | CA1181395125 | ABCA4 | c.6657C= (p.Phe2219=) c.3033C= (p.Phe1011=) | |
1 | g.93997933G>T | CA341276372 | ABCA4 | c.6657C>A (p.Phe2219Leu) c.3033C>A (p.Phe1011Leu) | |
1 | g.93997934A= | CA1181395126 | ABCA4 | c.6656T= (p.Phe2219=) c.3032T= (p.Phe1011=) | |
1 | g.93997934A>C | CA341276373 | ABCA4 | c.6656T>G (p.Phe2219Cys) c.3032T>G (p.Phe1011Cys) | |
1 | g.93997934A>G | CA956832 | ABCA4 | c.6656T>C (p.Phe2219Ser) c.3032T>C (p.Phe1011Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93997934A>T | CA341276374 | ABCA4 | c.6656T>A (p.Phe2219Tyr) c.3032T>A (p.Phe1011Tyr) | |
1 | g.93997935A>C | CA341276375 | ABCA4 | c.6655T>G (p.Phe2219Val) c.3031T>G (p.Phe1011Val) | |
1 | g.93997935A>G | CA341276376 | ABCA4 | c.6655T>C (p.Phe2219Leu) c.3031T>C (p.Phe1011Leu) | gnomAD v4 |
1 | g.93997935A>T | CA341276377 | ABCA4 | c.6655T>A (p.Phe2219Ile) c.3031T>A (p.Phe1011Ile) | |
1 | g.93997936G>A | CA418808385 | ABCA4 | c.6654C>T (p.Ile2218=) c.3030C>T (p.Ile1010=) | |
1 | g.93997936G>C | CA341276378 | ABCA4 | c.6654C>G (p.Ile2218Met) c.3030C>G (p.Ile1010Met) | COSMIC COSMIC |
1 | g.93997936G>T | CA418808387 | ABCA4 | c.6654C>A (p.Ile2218=) c.3030C>A (p.Ile1010=) | ClinVar |
1 | g.93997937A>C | CA341276381 | ABCA4 | c.6653T>G (p.Ile2218Ser) c.3029T>G (p.Ile1010Ser) | |
1 | g.93997937A>G | CA341276380 | ABCA4 | c.6653T>C (p.Ile2218Thr) c.3029T>C (p.Ile1010Thr) | |
1 | g.93997937A>T | CA341276379 | ABCA4 | c.6653T>A (p.Ile2218Asn) c.3029T>A (p.Ile1010Asn) | |
1 | g.93997938T>A | CA341276382 | ABCA4 | c.6652A>T (p.Ile2218Phe) c.3028A>T (p.Ile1010Phe) | |
1 | g.93997938T>C | CA341276383 | ABCA4 | c.6652A>G (p.Ile2218Val) c.3028A>G (p.Ile1010Val) | |
1 | g.93997938T>G | CA956833 | ABCA4 | c.6652A>C (p.Ile2218Leu) c.3028A>C (p.Ile1010Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93997938T= | CA1148307008 | ABCA4 | c.6652A= (p.Ile2218=) c.3028A= (p.Ile1010=) | |
1 | g.93997939C>A | CA341276384 | ABCA4 | c.6651G>T (p.Arg2217Ser) c.3027G>T (p.Arg1009Ser) | |
1 | g.93997939C= | CA1181395130 | ABCA4 | c.6651G= (p.Arg2217=) c.3027G= (p.Arg1009=) | |
1 | g.93997939C>G | CA341276385 | ABCA4 | c.6651G>C (p.Arg2217Ser) c.3027G>C (p.Arg1009Ser) | COSMIC |
1 | g.93997939C>T | CA418808399 | ABCA4 | c.6651G>A (p.Arg2217=) c.3027G>A (p.Arg1009=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997940del | CA2573132761 | ABCA4 | c.6651del (p.Ile2218SerfsTer29) c.3027del (p.Ile1010SerfsTer29) | ClinVar dbSNP |
1 | g.93997940C>A | CA341276388 | ABCA4 | c.6650G>T (p.Arg2217Met) c.3026G>T (p.Arg1009Met) | |
1 | g.93997940C>G | CA341276387 | ABCA4 | c.6650G>C (p.Arg2217Thr) c.3026G>C (p.Arg1009Thr) | |
1 | g.93997940C>T | CA341276386 | ABCA4 | c.6650G>A (p.Arg2217Lys) c.3026G>A (p.Arg1009Lys) | gnomAD v4 |
1 | g.93997941T>A | CA956834 | ABCA4 | c.6649A>T (p.Arg2217Trp) c.3025A>T (p.Arg1009Trp) | dbSNP ExAC gnomAD v2 |
1 | g.93997941T>C | CA341276389 | ABCA4 | c.6649A>G (p.Arg2217Gly) c.3025A>G (p.Arg1009Gly) | |
1 | g.93997941T>G | CA418808412 | ABCA4 | c.6649A>C (p.Arg2217=) c.3025A>C (p.Arg1009=) | |
1 | g.93997941T= | CA1144208890 | ABCA4 | c.6649A= (p.Arg2217=) c.3025A= (p.Arg1009=) | |
1 | g.93997942C>A | CA418808415 | ABCA4 | c.6648G>T (p.Ala2216=) c.3024G>T (p.Ala1008=) | |
1 | g.93997942C= | CA1181395135 | ABCA4 | c.6648G= (p.Ala2216=) c.3024G= (p.Ala1008=) | |
1 | g.93997942C>G | CA418808418 | ABCA4 | c.6648G>C (p.Ala2216=) c.3024G>C (p.Ala1008=) | |
1 | g.93997942C>T | CA956835 | ABCA4 | c.6648G>A (p.Ala2216=) c.3024G>A (p.Ala1008=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.93997943G>A | CA10602405 | ABCA4 | c.6647C>T (p.Ala2216Val) c.3023C>T (p.Ala1008Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997943G>C | CA341276390 | ABCA4 | c.6647C>G (p.Ala2216Gly) c.3023C>G (p.Ala1008Gly) | ClinVar dbSNP |
1 | g.93997943G= | CA1181395139 | ABCA4 | c.6647C= (p.Ala2216=) c.3023C= (p.Ala1008=) | |
1 | g.93997943G>T | CA341276391 | ABCA4 | c.6647C>A (p.Ala2216Glu) c.3023C>A (p.Ala1008Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997944C>A | CA341276392 | ABCA4 | c.6646G>T (p.Ala2216Ser) c.3022G>T (p.Ala1008Ser) | |
1 | g.93997944C>G | CA341276394 | ABCA4 | c.6646G>C (p.Ala2216Pro) c.3022G>C (p.Ala1008Pro) | |
1 | g.93997944C>T | CA341276393 | ABCA4 | c.6646G>A (p.Ala2216Thr) c.3022G>A (p.Ala1008Thr) | gnomAD v4 |
1 | g.93997945C>A | CA418808427 | ABCA4 | c.6645G>T (p.Leu2215=) c.3021G>T (p.Leu1007=) | |
1 | g.93997945C>G | CA418808429 | ABCA4 | c.6645G>C (p.Leu2215=) c.3021G>C (p.Leu1007=) | |
1 | g.93997945C>T | CA418808431 | ABCA4 | c.6645G>A (p.Leu2215=) c.3021G>A (p.Leu1007=) | gnomAD v4 |
1 | g.93997946A= | CA1181395145 | ABCA4 | c.6644T= (p.Leu2215=) c.3020T= (p.Leu1007=) | |
1 | g.93997946A>C | CA341276395 | ABCA4 | c.6644T>G (p.Leu2215Arg) c.3020T>G (p.Leu1007Arg) | |
1 | g.93997946A>G | CA341276396 | ABCA4 | c.6644T>C (p.Leu2215Pro) c.3020T>C (p.Leu1007Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997946A>T | CA341276397 | ABCA4 | c.6644T>A (p.Leu2215Gln) c.3020T>A (p.Leu1007Gln) | |
1 | g.93997947G>A | CA418808437 | ABCA4 | c.6643C>T (p.Leu2215=) c.3019C>T (p.Leu1007=) | |
1 | g.93997947G>C | CA341276398 | ABCA4 | c.6643C>G (p.Leu2215Val) c.3019C>G (p.Leu1007Val) | |
1 | g.93997947G>T | CA341276399 | ABCA4 | c.6643C>A (p.Leu2215Met) c.3019C>A (p.Leu1007Met) | |
1 | g.93997947_93997950delinsGGGA | CA1181395147 | ABCA4 | c.6640_6643delinsTCCC (p.Ser2214=) c.3016_3019delinsTCCC (p.Ser1006=) | |
1 | g.93997948G>A | CA418808450 | ABCA4 | c.6642C>T (p.Ser2214=) c.3018C>T (p.Ser1006=) | gnomAD v4 |
1 | g.93997948G>C | CA418808445 | ABCA4 | c.6642C>G (p.Ser2214=) c.3018C>G (p.Ser1006=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.93997948G>T | CA418808451 | ABCA4 | c.6642C>A (p.Ser2214=) c.3018C>A (p.Ser1006=) | |
1 | g.93997958_93997960dup | CA524697313 | ABCA4 | c.6640_6642dup (p.Ser2214_Leu2215insSer) c.3016_3018dup (p.Ser1006_Leu1007insSer) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997958_93997960del | CA956836 | ABCA4 | c.6640_6642del (p.Ser2214del) c.3016_3018del (p.Ser1006del) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.93997949G>A | CA341276400 | ABCA4 | c.6641C>T (p.Ser2214Phe) c.3017C>T (p.Ser1006Phe) | |
1 | g.93997949G>C | CA341276401 | ABCA4 | c.6641C>G (p.Ser2214Cys) c.3017C>G (p.Ser1006Cys) | |
1 | g.93997949G>T | CA341276402 | ABCA4 | c.6641C>A (p.Ser2214Tyr) c.3017C>A (p.Ser1006Tyr) | |
1 | g.93997950A>C | CA341276403 | ABCA4 | c.6640T>G (p.Ser2214Ala) c.3016T>G (p.Ser1006Ala) | |
1 | g.93997950A>G | CA341276404 | ABCA4 | c.6640T>C (p.Ser2214Pro) c.3016T>C (p.Ser1006Pro) | |
1 | g.93997950A>T | CA341276405 | ABCA4 | c.6640T>A (p.Ser2214Thr) c.3016T>A (p.Ser1006Thr) | gnomAD v4 |
1 | g.93997951G>A | CA418808464 | ABCA4 | c.6639C>T (p.Ser2213=) c.3015C>T (p.Ser1005=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997951G>C | CA418808471 | ABCA4 | c.6639C>G (p.Ser2213=) c.3015C>G (p.Ser1005=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997951G= | CA1181395152 | ABCA4 | c.6639C= (p.Ser2213=) c.3015C= (p.Ser1005=) | |
1 | g.93997951G>T | CA418808474 | ABCA4 | c.6639C>A (p.Ser2213=) c.3015C>A (p.Ser1005=) | |
1 | g.93997952G>A | CA341276407 | ABCA4 | c.6638C>T (p.Ser2213Phe) c.3014C>T (p.Ser1005Phe) | dbSNP gnomAD v4 COSMIC |
1 | g.93997952G>C | CA341276408 | ABCA4 | c.6638C>G (p.Ser2213Cys) c.3014C>G (p.Ser1005Cys) | |
1 | g.93997952G= | CA1181395155 | ABCA4 | c.6638C= (p.Ser2213=) c.3014C= (p.Ser1005=) | |
1 | g.93997952G>T | CA341276406 | ABCA4 | c.6638C>A (p.Ser2213Tyr) c.3014C>A (p.Ser1005Tyr) | |
1 | g.93997953A>C | CA341276410 | ABCA4 | c.6637T>G (p.Ser2213Ala) c.3013T>G (p.Ser1005Ala) | |
1 | g.93997953A>G | CA341276409 | ABCA4 | c.6637T>C (p.Ser2213Pro) c.3013T>C (p.Ser1005Pro) | |
1 | g.93997953A>T | CA341276411 | ABCA4 | c.6637T>A (p.Ser2213Thr) c.3013T>A (p.Ser1005Thr) | |
1 | g.93997954G>A | CA418808483 | ABCA4 | c.6636C>T (p.Ser2212=) c.3012C>T (p.Ser1004=) | dbSNP gnomAD v4 |
1 | g.93997954G>C | CA418808485 | ABCA4 | c.6636C>G (p.Ser2212=) c.3012C>G (p.Ser1004=) | |
1 | g.93997954G= | CA1181395157 | ABCA4 | c.6636C= (p.Ser2212=) c.3012C= (p.Ser1004=) | |
1 | g.93997954G>T | CA418808486 | ABCA4 | c.6636C>A (p.Ser2212=) c.3012C>A (p.Ser1004=) | |
1 | g.93997955G>A | CA341276412 | ABCA4 | c.6635C>T (p.Ser2212Phe) c.3011C>T (p.Ser1004Phe) | gnomAD v4 |
1 | g.93997955G>C | CA341276414 | ABCA4 | c.6635C>G (p.Ser2212Cys) c.3011C>G (p.Ser1004Cys) | |
1 | g.93997955G>T | CA341276413 | ABCA4 | c.6635C>A (p.Ser2212Tyr) c.3011C>A (p.Ser1004Tyr) | gnomAD v4 |
1 | g.93997956A>C | CA341276415 | ABCA4 | c.6634T>G (p.Ser2212Ala) c.3010T>G (p.Ser1004Ala) | |
1 | g.93997956A>G | CA341276416 | ABCA4 | c.6634T>C (p.Ser2212Pro) c.3010T>C (p.Ser1004Pro) | |
1 | g.93997956A>T | CA341276417 | ABCA4 | c.6634T>A (p.Ser2212Thr) c.3010T>A (p.Ser1004Thr) | |
1 | g.93997957G>A | CA418808488 | ABCA4 | c.6633C>T (p.Ser2211=) c.3009C>T (p.Ser1003=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997957G>C | CA418808490 | ABCA4 | c.6633C>G (p.Ser2211=) c.3009C>G (p.Ser1003=) | |
1 | g.93997957G= | CA1181395168 | ABCA4 | c.6633C= (p.Ser2211=) c.3009C= (p.Ser1003=) | |
1 | g.93997957G>T | CA418808492 | ABCA4 | c.6633C>A (p.Ser2211=) c.3009C>A (p.Ser1003=) | COSMIC |
1 | g.93997958G>A | CA956837 | ABCA4 | c.6632C>T (p.Ser2211Phe) c.3008C>T (p.Ser1003Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93997958G>C | CA341276418 | ABCA4 | c.6632C>G (p.Ser2211Cys) c.3008C>G (p.Ser1003Cys) | |
1 | g.93997958G= | CA1149044952 | ABCA4 | c.6632C= (p.Ser2211=) c.3008C= (p.Ser1003=) | |
1 | g.93997958G>T | CA341276419 | ABCA4 | c.6632C>A (p.Ser2211Tyr) c.3008C>A (p.Ser1003Tyr) | gnomAD v4 |
1 | g.93997959A= | CA1181395171 | ABCA4 | c.6631T= (p.Ser2211=) c.3007T= (p.Ser1003=) | |
1 | g.93997959A>C | CA341276420 | ABCA4 | c.6631T>G (p.Ser2211Ala) c.3007T>G (p.Ser1003Ala) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.93997959A>G | CA341276421 | ABCA4 | c.6631T>C (p.Ser2211Pro) c.3007T>C (p.Ser1003Pro) | |
1 | g.93997959A>T | CA341276422 | ABCA4 | c.6631T>A (p.Ser2211Thr) c.3007T>A (p.Ser1003Thr) | |
1 | g.93997960G>A | CA418808498 | ABCA4 | c.6630C>T (p.Val2210=) c.3006C>T (p.Val1002=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.93997960G>C | CA418808501 | ABCA4 | c.6630C>G (p.Val2210=) c.3006C>G (p.Val1002=) | |
1 | g.93997960G= | CA1181395173 | ABCA4 | c.6630C= (p.Val2210=) c.3006C= (p.Val1002=) | |
1 | g.93997960G>T | CA418808503 | ABCA4 | c.6630C>A (p.Val2210=) c.3006C>A (p.Val1002=) | |
1 | g.93997961A>C | CA341276423 | ABCA4 | c.6629T>G (p.Val2210Gly) c.3005T>G (p.Val1002Gly) | |
1 | g.93997961A>G | CA341276424 | ABCA4 | c.6629T>C (p.Val2210Ala) c.3005T>C (p.Val1002Ala) | |
1 | g.93997961A>T | CA341276425 | ABCA4 | c.6629T>A (p.Val2210Asp) c.3005T>A (p.Val1002Asp) | |
1 | g.93997962C>A | CA341276428 | ABCA4 | c.6628G>T (p.Val2210Phe) c.3004G>T (p.Val1002Phe) | |
1 | g.93997962C>G | CA341276426 | ABCA4 | c.6628G>C (p.Val2210Leu) c.3004G>C (p.Val1002Leu) | gnomAD v4 |
1 | g.93997962C>T | CA341276427 | ABCA4 | c.6628G>A (p.Val2210Ile) c.3004G>A (p.Val1002Ile) | gnomAD v4 |
1 | g.93997963C>A | CA341276429 | ABCA4 | c.6627G>T (p.Gln2209His) c.3003G>T (p.Gln1001His) | |
1 | g.93997963C= | CA1181395175 | ABCA4 | c.6627G= (p.Gln2209=) c.3003G= (p.Gln1001=) | |
1 | g.93997963C>G | CA341276430 | ABCA4 | c.6627G>C (p.Gln2209His) c.3003G>C (p.Gln1001His) | |
1 | g.93997963C>T | CA418808511 | ABCA4 | c.6627G>A (p.Gln2209=) c.3003G>A (p.Gln1001=) | dbSNP |
1 | g.93997964T>A | CA341276431 | ABCA4 | c.6626A>T (p.Gln2209Leu) c.3002A>T (p.Gln1001Leu) | |
1 | g.93997964T>C | CA341276432 | ABCA4 | c.6626A>G (p.Gln2209Arg) c.3002A>G (p.Gln1001Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997964T>G | CA341276433 | ABCA4 | c.6626A>C (p.Gln2209Pro) c.3002A>C (p.Gln1001Pro) | |
1 | g.93997964T= | CA1181395177 | ABCA4 | c.6626A= (p.Gln2209=) c.3002A= (p.Gln1001=) | |
1 | g.93997965G>A | CA26828845 | ABCA4 | c.6625C>T (p.Gln2209Ter) c.3001C>T (p.Gln1001Ter) | dbSNP COSMIC |
1 | g.93997965G>C | CA341276434 | ABCA4 | c.6625C>G (p.Gln2209Glu) c.3001C>G (p.Gln1001Glu) | |
1 | g.93997965G= | CA1142030578 | ABCA4 | c.6625C= (p.Gln2209=) c.3001C= (p.Gln1001=) | |
1 | g.93997965G>T | CA341276435 | ABCA4 | c.6625C>A (p.Gln2209Lys) c.3001C>A (p.Gln1001Lys) | |
1 | g.93997966G>A | CA418808521 | ABCA4 | c.6624C>T (p.Phe2208=) c.3000C>T (p.Phe1000=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.93997966G>C | CA341276436 | ABCA4 | c.6624C>G (p.Phe2208Leu) c.3000C>G (p.Phe1000Leu) | |
1 | g.93997966G= | CA1181395180 | ABCA4 | c.6624C= (p.Phe2208=) c.3000C= (p.Phe1000=) | |
1 | g.93997966G>T | CA341276437 | ABCA4 | c.6624C>A (p.Phe2208Leu) c.3000C>A (p.Phe1000Leu) | |
1 | g.93997967A= | CA1181395182 | ABCA4 | c.6623T= (p.Phe2208=) c.2999T= (p.Phe1000=) | |
1 | g.93997967A>C | CA341276439 | ABCA4 | c.6623T>G (p.Phe2208Cys) c.2999T>G (p.Phe1000Cys) | |
1 | g.93997967A>G | CA341276438 | ABCA4 | c.6623T>C (p.Phe2208Ser) c.2999T>C (p.Phe1000Ser) | |
1 | g.93997967A>T | CA956838 | ABCA4 | c.6623T>A (p.Phe2208Tyr) c.2999T>A (p.Phe1000Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997968A= | CA1181395184 | ABCA4 | c.6622T= (p.Phe2208=) c.2998T= (p.Phe1000=) | |
1 | g.93997968A>C | CA341276440 | ABCA4 | c.6622T>G (p.Phe2208Val) c.2998T>G (p.Phe1000Val) | |
1 | g.93997968A>G | CA341276441 | ABCA4 | c.6622T>C (p.Phe2208Leu) c.2998T>C (p.Phe1000Leu) | dbSNP gnomAD v4 |
1 | g.93997968A>T | CA341276442 | ABCA4 | c.6622T>A (p.Phe2208Ile) c.2998T>A (p.Phe1000Ile) | |
1 | g.93997969C>A | CA341276443 | ABCA4 | c.6621G>T (p.Gln2207His) c.2997G>T (p.Gln999His) | gnomAD v4 |
1 | g.93997969C>G | CA341276444 | ABCA4 | c.6621G>C (p.Gln2207His) c.2997G>C (p.Gln999His) | |
1 | g.93997969C>T | CA418808533 | ABCA4 | c.6621G>A (p.Gln2207=) c.2997G>A (p.Gln999=) | |
1 | g.93997970T>A | CA341276446 | ABCA4 | c.6620A>T (p.Gln2207Leu) c.2996A>T (p.Gln999Leu) | |
1 | g.93997970T>C | CA956839 | ABCA4 | c.6620A>G (p.Gln2207Arg) c.2996A>G (p.Gln999Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997970T>G | CA341276445 | ABCA4 | c.6620A>C (p.Gln2207Pro) c.2996A>C (p.Gln999Pro) | ClinVar dbSNP |
1 | g.93997970T= | CA1147168070 | ABCA4 | c.6620A= (p.Gln2207=) c.2996A= (p.Gln999=) | |
1 | g.93997971G>A | CA341276447 | ABCA4 | c.6619C>T (p.Gln2207Ter) c.2995C>T (p.Gln999Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.93997971G>C | CA341276448 | ABCA4 | c.6619C>G (p.Gln2207Glu) c.2995C>G (p.Gln999Glu) | |
1 | g.93997971G= | CA1181395192 | ABCA4 | c.6619C= (p.Gln2207=) c.2995C= (p.Gln999=) | |
1 | g.93997971G>T | CA341276449 | ABCA4 | c.6619C>A (p.Gln2207Lys) c.2995C>A (p.Gln999Lys) | |
1 | g.93997972G>A | CA418808551 | ABCA4 | c.6618C>T (p.Leu2206=) c.2994C>T (p.Leu998=) | ClinVar gnomAD v4 COSMIC |
1 | g.93997972G>C | CA418808553 | ABCA4 | c.6618C>G (p.Leu2206=) c.2994C>G (p.Leu998=) | |
1 | g.93997972G>T | CA418808555 | ABCA4 | c.6618C>A (p.Leu2206=) c.2994C>A (p.Leu998=) | |
1 | g.93997973A>C | CA341276450 | ABCA4 | c.6617T>G (p.Leu2206Arg) c.2993T>G (p.Leu998Arg) | |
1 | g.93997973A>G | CA341276451 | ABCA4 | c.6617T>C (p.Leu2206Pro) c.2993T>C (p.Leu998Pro) | gnomAD v4 |
1 | g.93997973A>T | CA341276452 | ABCA4 | c.6617T>A (p.Leu2206His) c.2993T>A (p.Leu998His) | |
1 | g.93997974G>A | CA956840 | ABCA4 | c.6616C>T (p.Leu2206Phe) c.2992C>T (p.Leu998Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93997974G>C | CA341276454 | ABCA4 | c.6616C>G (p.Leu2206Val) c.2992C>G (p.Leu998Val) | |
1 | g.93997974G= | CA1148560870 | ABCA4 | c.6616C= (p.Leu2206=) c.2992C= (p.Leu998=) | |
1 | g.93997974G>T | CA341276453 | ABCA4 | c.6616C>A (p.Leu2206Ile) c.2992C>A (p.Leu998Ile) | |
1 | g.93997975C>A | CA341276455 | ABCA4 | c.6615G>T (p.Met2205Ile) c.2991G>T (p.Met997Ile) | |
1 | g.93997975C>G | CA341276456 | ABCA4 | c.6615G>C (p.Met2205Ile) c.2991G>C (p.Met997Ile) | |
1 | g.93997975C>T | CA341276457 | ABCA4 | c.6615G>A (p.Met2205Ile) c.2991G>A (p.Met997Ile) | gnomAD v4 |
1 | g.93997976A>C | CA341276458 | ABCA4 | c.6614T>G (p.Met2205Arg) c.2990T>G (p.Met997Arg) | |
1 | g.93997976A>G | CA341276459 | ABCA4 | c.6614T>C (p.Met2205Thr) c.2990T>C (p.Met997Thr) | |
1 | g.93997976A>T | CA341276460 | ABCA4 | c.6614T>A (p.Met2205Lys) c.2990T>A (p.Met997Lys) | |
1 | g.93997976_93997984delinsATGTTGTAG | CA1181395196 | ABCA4 | c.6606_6614delinsCTACAACAT (p.His2202=) c.2982_2990delinsCTACAACAT (p.His994=) | |
1 | g.93997977T>A | CA341276461 | ABCA4 | c.6613A>T (p.Met2205Leu) c.2989A>T (p.Met997Leu) | |
1 | g.93997977T>C | CA956841 | ABCA4 | c.6613A>G (p.Met2205Val) c.2989A>G (p.Met997Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93997977T>G | CA341276462 | ABCA4 | c.6613A>C (p.Met2205Leu) c.2989A>C (p.Met997Leu) | |
1 | g.93997977T= | CA1181395199 | ABCA4 | c.6613A= (p.Met2205=) c.2989A= (p.Met997=) | |
1 | g.93997979_93997986del | CA524697314 | ABCA4 | c.6606_6613del (p.Tyr2203AlafsTer?) c.2982_2989del (p.Tyr995AlafsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997978G>A | CA418808577 | ABCA4 | c.6612C>T (p.Asn2204=) c.2988C>T (p.Asn996=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997978G>C | CA341276463 | ABCA4 | c.6612C>G (p.Asn2204Lys) c.2988C>G (p.Asn996Lys) | |
1 | g.93997978G= | CA1181395203 | ABCA4 | c.6612C= (p.Asn2204=) c.2988C= (p.Asn996=) | |
1 | g.93997978G>T | CA341276464 | ABCA4 | c.6612C>A (p.Asn2204Lys) c.2988C>A (p.Asn996Lys) | |
1 | g.93997979T>A | CA341276467 | ABCA4 | c.6611A>T (p.Asn2204Ile) c.2987A>T (p.Asn996Ile) | |
1 | g.93997979T>C | CA341276466 | ABCA4 | c.6611A>G (p.Asn2204Ser) c.2987A>G (p.Asn996Ser) | gnomAD v4 |
1 | g.93997979T>G | CA341276465 | ABCA4 | c.6611A>C (p.Asn2204Thr) c.2987A>C (p.Asn996Thr) | |
1 | g.93997980T>A | CA341276469 | ABCA4 | c.6610A>T (p.Asn2204Tyr) c.2986A>T (p.Asn996Tyr) | |
1 | g.93997980T>C | CA341276468 | ABCA4 | c.6610A>G (p.Asn2204Asp) c.2986A>G (p.Asn996Asp) | dbSNP |
1 | g.93997980T>G | CA341276470 | ABCA4 | c.6610A>C (p.Asn2204His) c.2986A>C (p.Asn996His) | |
1 | g.93997980T= | CA1181395204 | ABCA4 | c.6610A= (p.Asn2204=) c.2986A= (p.Asn996=) | |
1 | g.93997981G>A | CA418808598 | ABCA4 | c.6609C>T (p.Tyr2203=) c.2985C>T (p.Tyr995=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.93997981G>C | CA341276471 | ABCA4 | c.6609C>G (p.Tyr2203Ter) c.2985C>G (p.Tyr995Ter) | |
1 | g.93997981G= | CA1140725937 | ABCA4 | c.6609C= (p.Tyr2203=) c.2985C= (p.Tyr995=) | |
1 | g.93997981G>T | CA227422 | ABCA4 | c.6609C>A (p.Tyr2203Ter) c.2985C>A (p.Tyr995Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.93997982T>A | CA341276472 | ABCA4 | c.6608A>T (p.Tyr2203Phe) c.2984A>T (p.Tyr995Phe) | |
1 | g.93997982T>C | CA341276473 | ABCA4 | c.6608A>G (p.Tyr2203Cys) c.2984A>G (p.Tyr995Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93997982T>G | CA341276474 | ABCA4 | c.6608A>C (p.Tyr2203Ser) c.2984A>C (p.Tyr995Ser) | |
1 | g.93997982T= | CA1181395210 | ABCA4 | c.6608A= (p.Tyr2203=) c.2984A= (p.Tyr995=) | |
1 | g.93997983A>C | CA341276475 | ABCA4 | c.6607T>G (p.Tyr2203Asp) c.2983T>G (p.Tyr995Asp) | |
1 | g.93997983A>G | CA341276476 | ABCA4 | c.6607T>C (p.Tyr2203His) c.2983T>C (p.Tyr995His) | gnomAD v4 |
1 | g.93997983A>T | CA341276477 | ABCA4 | c.6607T>A (p.Tyr2203Asn) c.2983T>A (p.Tyr995Asn) | |
1 | g.93997984G>A | CA418808616 | ABCA4 | c.6606C>T (p.His2202=) c.2982C>T (p.His994=) | |
1 | g.93997984G>C | CA341276478 | ABCA4 | c.6606C>G (p.His2202Gln) c.2982C>G (p.His994Gln) | |
1 | g.93997984G>T | CA341276479 | ABCA4 | c.6606C>A (p.His2202Gln) c.2982C>A (p.His994Gln) | |
1 | g.93997985T>A | CA341276480 | ABCA4 | c.6605A>T (p.His2202Leu) c.2981A>T (p.His994Leu) | |
1 | g.93997985T>C | CA341276481 | ABCA4 | c.6605A>G (p.His2202Arg) c.2981A>G (p.His994Arg) | |
1 | g.93997985T>G | CA341276482 | ABCA4 | c.6605A>C (p.His2202Pro) c.2981A>C (p.His994Pro) | |
1 | g.93997986G>A | CA341276483 | ABCA4 | c.6604C>T (p.His2202Tyr) c.2980C>T (p.His994Tyr) | |
1 | g.93997986G>C | CA341276485 | ABCA4 | c.6604C>G (p.His2202Asp) c.2980C>G (p.His994Asp) | ClinVar |
1 | g.93997986G>T | CA341276484 | ABCA4 | c.6604C>A (p.His2202Asn) c.2980C>A (p.His994Asn) | |
1 | g.93997987C>A | CA341276486 | ABCA4 | c.6603G>T (p.Arg2201Ser) c.2979G>T (p.Arg993Ser) | |
1 | g.93997987C>G | CA341276487 | ABCA4 | c.6603G>C (p.Arg2201Ser) c.2979G>C (p.Arg993Ser) | |
1 | g.93997987C>T | CA418808632 | ABCA4 | c.6603G>A (p.Arg2201=) c.2979G>A (p.Arg993=) | gnomAD v4 |
1 | g.93997987_93997989delinsCCT | CA1181395214 | ABCA4 | c.6601_6603delinsAGG (p.Arg2201=) c.2977_2979delinsAGG (p.Arg993=) | |
1 | g.93997988C>A | CA341276488 | ABCA4 | c.6602G>T (p.Arg2201Met) c.2978G>T (p.Arg993Met) | |
1 | g.93997988C>G | CA341276489 | ABCA4 | c.6602G>C (p.Arg2201Thr) c.2978G>C (p.Arg993Thr) | |
1 | g.93997988C>T | CA341276490 | ABCA4 | c.6602G>A (p.Arg2201Lys) c.2978G>A (p.Arg993Lys) | |
1 | g.93997988_93997992delinsCTCTC | CA1140725940 | ABCA4 | c.6598_6602delinsGAGAG (p.Glu2200=) c.2974_2978delinsGAGAG (p.Glu992=) | |
1 | g.93997991_93997992del | CA227421 | ABCA4 | c.6601_6602del (p.Arg2201AlafsTer?) c.2977_2978del (p.Arg993AlafsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.93997989T>A | CA26828896 | ABCA4 | c.6601A>T (p.Arg2201Trp) c.2977A>T (p.Arg993Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997989T>C | CA956842 | ABCA4 | c.6601A>G (p.Arg2201Gly) c.2977A>G (p.Arg993Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93997989T>G | CA418808644 | ABCA4 | c.6601A>C (p.Arg2201=) c.2977A>C (p.Arg993=) | |
1 | g.93997989T= | CA1181395222 | ABCA4 | c.6601A= (p.Arg2201=) c.2977A= (p.Arg993=) | |
1 | g.93997990C>A | CA341276491 | ABCA4 | c.6600G>T (p.Glu2200Asp) c.2976G>T (p.Glu992Asp) | |
1 | g.93997990C= | CA1181395224 | ABCA4 | c.6600G= (p.Glu2200=) c.2976G= (p.Glu992=) | |
1 | g.93997990C>G | CA26828902 | ABCA4 | c.6600G>C (p.Glu2200Asp) c.2976G>C (p.Glu992Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997990C>T | CA418808647 | ABCA4 | c.6600G>A (p.Glu2200=) c.2976G>A (p.Glu992=) | |
1 | g.93997991T>A | CA341276493 | ABCA4 | c.6599A>T (p.Glu2200Val) c.2975A>T (p.Glu992Val) | |
1 | g.93997991T>C | CA341276494 | ABCA4 | c.6599A>G (p.Glu2200Gly) c.2975A>G (p.Glu992Gly) | |
1 | g.93997991T>G | CA341276492 | ABCA4 | c.6599A>C (p.Glu2200Ala) c.2975A>C (p.Glu992Ala) | |
1 | g.93997992C>A | CA341276495 | ABCA4 | c.6598G>T (p.Glu2200Ter) c.2974G>T (p.Glu992Ter) | |
1 | g.93997992C= | CA1181395227 | ABCA4 | c.6598G= (p.Glu2200=) c.2974G= (p.Glu992=) | |
1 | g.93997992C>G | CA341276496 | ABCA4 | c.6598G>C (p.Glu2200Gln) c.2974G>C (p.Glu992Gln) | dbSNP gnomAD v4 |
1 | g.93997992C>T | CA956843 | ABCA4 | c.6598G>A (p.Glu2200Lys) c.2974G>A (p.Glu992Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93997994del | CA2646644814 | ABCA4 | c.6598del (p.Glu2200ArgfsTer?) c.2974del (p.Glu992ArgfsTer?) | gnomAD v4 |
1 | g.93997993C>A | CA341276497 | ABCA4 | c.6597G>T (p.Arg2199Ser) c.2973G>T (p.Arg991Ser) | |
1 | g.93997993C>G | CA341276498 | ABCA4 | c.6597G>C (p.Arg2199Ser) c.2973G>C (p.Arg991Ser) | |
1 | g.93997993C>T | CA418808653 | ABCA4 | c.6597G>A (p.Arg2199=) c.2973G>A (p.Arg991=) | COSMIC COSMIC |
1 | g.93997994C>A | CA341276499 | ABCA4 | c.6596G>T (p.Arg2199Met) c.2972G>T (p.Arg991Met) | |
1 | g.93997994C= | CA1181395232 | ABCA4 | c.6596G= (p.Arg2199=) c.2972G= (p.Arg991=) | |
1 | g.93997994C>G | CA341276500 | ABCA4 | c.6596G>C (p.Arg2199Thr) c.2972G>C (p.Arg991Thr) | |
1 | g.93997994C>T | CA956844 | ABCA4 | c.6596G>A (p.Arg2199Lys) c.2972G>A (p.Arg991Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93997995T>A | CA341276501 | ABCA4 | c.6595A>T (p.Arg2199Trp) c.2971A>T (p.Arg991Trp) | |
1 | g.93997995T>C | CA341276502 | ABCA4 | c.6595A>G (p.Arg2199Gly) c.2971A>G (p.Arg991Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.93997995T>G | CA418808669 | ABCA4 | c.6595A>C (p.Arg2199=) c.2971A>C (p.Arg991=) | |
1 | g.93997995T= | CA1181395235 | ABCA4 | c.6595A= (p.Arg2199=) c.2971A= (p.Arg991=) | |
1 | g.93997996C>A | CA341276503 | ABCA4 | c.6594G>T (p.Gln2198His) c.2970G>T (p.Gln990His) | |
1 | g.93997996C>G | CA341276504 | ABCA4 | c.6594G>C (p.Gln2198His) c.2970G>C (p.Gln990His) | |
1 | g.93997996C>T | CA418808672 | ABCA4 | c.6594G>A (p.Gln2198=) c.2970G>A (p.Gln990=) | COSMIC |
1 | g.93997997T>A | CA341276506 | ABCA4 | c.6593A>T (p.Gln2198Leu) c.2969A>T (p.Gln990Leu) | |
1 | g.93997997T>C | CA341276507 | ABCA4 | c.6593A>G (p.Gln2198Arg) c.2969A>G (p.Gln990Arg) | |
1 | g.93997997T>G | CA341276505 | ABCA4 | c.6593A>C (p.Gln2198Pro) c.2969A>C (p.Gln990Pro) | |
1 | g.93997998G>A | CA341276508 | ABCA4 | c.6592C>T (p.Gln2198Ter) c.2968C>T (p.Gln990Ter) | |
1 | g.93997998G>C | CA341276509 | ABCA4 | c.6592C>G (p.Gln2198Glu) c.2968C>G (p.Gln990Glu) | |
1 | g.93997998G= | CA1181395236 | ABCA4 | c.6592C= (p.Gln2198=) c.2968C= (p.Gln990=) | |
1 | g.93997998G>T | CA341276510 | ABCA4 | c.6592C>A (p.Gln2198Lys) c.2968C>A (p.Gln990Lys) | |
1 | g.93997999C>A | CA418808689 | ABCA4 | c.6591G>T (p.Val2197=) c.2967G>T (p.Val989=) | |
1 | g.93997999C= | CA1181395237 | ABCA4 | c.6591G= (p.Val2197=) c.2967G= (p.Val989=) | |
1 | g.93997999C>G | CA418808691 | ABCA4 | c.6591G>C (p.Val2197=) c.2967G>C (p.Val989=) | |
1 | g.93997999C>T | CA418808694 | ABCA4 | c.6591G>A (p.Val2197=) c.2967G>A (p.Val989=) | dbSNP gnomAD v4 |
1 | g.93998002_93998003dup | CA1181395238 | ABCA4 | c.6590_6591dup (p.Gln2198CysfsTer?) c.2966_2967dup (p.Gln990CysfsTer?) | dbSNP |
1 | g.93998000A>C | CA341276511 | ABCA4 | c.6590T>G (p.Val2197Gly) c.2966T>G (p.Val989Gly) | |
1 | g.93998000A>G | CA341276512 | ABCA4 | c.6590T>C (p.Val2197Ala) c.2966T>C (p.Val989Ala) | gnomAD v4 |
1 | g.93998000A>T | CA341276513 | ABCA4 | c.6590T>A (p.Val2197Glu) c.2966T>A (p.Val989Glu) | |
1 | g.93998001C>A | CA341276514 | ABCA4 | c.6589G>T (p.Val2197Leu) c.2965G>T (p.Val989Leu) | |
1 | g.93998001C>G | CA341276516 | ABCA4 | c.6589G>C (p.Val2197Leu) c.2965G>C (p.Val989Leu) | |
1 | g.93998001C>T | CA341276515 | ABCA4 | c.6589G>A (p.Val2197Met) c.2965G>A (p.Val989Met) | |
1 | g.93998002A>C | CA341276517 | ABCA4 | c.6588T>G (p.Ser2196Arg) c.2964T>G (p.Ser988Arg) | ClinVar |
1 | g.93998002A>G | CA418808708 | ABCA4 | c.6588T>C (p.Ser2196=) c.2964T>C (p.Ser988=) | gnomAD v4 |
1 | g.93998002A>T | CA341276518 | ABCA4 | c.6588T>A (p.Ser2196Arg) c.2964T>A (p.Ser988Arg) | |
1 | g.93998003C>A | CA341276519 | ABCA4 | c.6587G>T (p.Ser2196Ile) c.2963G>T (p.Ser988Ile) | |
1 | g.93998003C= | CA1181395242 | ABCA4 | c.6587G= (p.Ser2196=) c.2963G= (p.Ser988=) | |
1 | g.93998003C>G | CA341276520 | ABCA4 | c.6587G>C (p.Ser2196Thr) c.2963G>C (p.Ser988Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93998003C>T | CA341276521 | ABCA4 | c.6587G>A (p.Ser2196Asn) c.2963G>A (p.Ser988Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93998003_93998014del | CA2646644815 | ABCA4 | c.6576_6587del (p.Phe2193_Ser2196del) c.2952_2963del (p.Phe985_Ser988del) | gnomAD v4 |
1 | g.93998004T>A | CA956845 | ABCA4 | c.6586A>T (p.Ser2196Cys) c.2962A>T (p.Ser988Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.93998004T>C | CA341276523 | ABCA4 | c.6586A>G (p.Ser2196Gly) c.2962A>G (p.Ser988Gly) | |
1 | g.93998004T>G | CA341276522 | ABCA4 | c.6586A>C (p.Ser2196Arg) c.2962A>C (p.Ser988Arg) | |
1 | g.93998004T= | CA1181395244 | ABCA4 | c.6586A= (p.Ser2196=) c.2962A= (p.Ser988=) | |
1 | g.93998005G>A | CA418808716 | ABCA4 | c.6585C>T (p.Gly2195=) c.2961C>T (p.Gly987=) | |
1 | g.93998005G>C | CA418808717 | ABCA4 | c.6585C>G (p.Gly2195=) c.2961C>G (p.Gly987=) | |
1 | g.93998005G>T | CA418808720 | ABCA4 | c.6585C>A (p.Gly2195=) c.2961C>A (p.Gly987=) | gnomAD v4 |
1 | g.93998006C>A | CA341276524 | ABCA4 | c.6584G>T (p.Gly2195Val) c.2960G>T (p.Gly987Val) | |
1 | g.93998006C>G | CA341276526 | ABCA4 | c.6584G>C (p.Gly2195Ala) c.2960G>C (p.Gly987Ala) | |
1 | g.93998006C>T | CA341276525 | ABCA4 | c.6584G>A (p.Gly2195Asp) c.2960G>A (p.Gly987Asp) | gnomAD v4 |
1 | g.93998007C>A | CA341276527 | ABCA4 | c.6583G>T (p.Gly2195Cys) c.2959G>T (p.Gly987Cys) | |
1 | g.93998007C>G | CA341276528 | ABCA4 | c.6583G>C (p.Gly2195Arg) c.2959G>C (p.Gly987Arg) | |
1 | g.93998007C>T | CA341276529 | ABCA4 | c.6583G>A (p.Gly2195Ser) c.2959G>A (p.Gly987Ser) | |
1 | g.93998008T>A | CA418808733 | ABCA4 | c.6582A>T (p.Pro2194=) c.2958A>T (p.Pro986=) | |
1 | g.93998008T>C | CA418808736 | ABCA4 | c.6582A>G (p.Pro2194=) c.2958A>G (p.Pro986=) | dbSNP |
1 | g.93998008T>G | CA418808738 | ABCA4 | c.6582A>C (p.Pro2194=) c.2958A>C (p.Pro986=) | gnomAD v4 |
1 | g.93998008T= | CA1181395246 | ABCA4 | c.6582A= (p.Pro2194=) c.2958A= (p.Pro986=) | |
1 | g.93998009G>A | CA341276530 | ABCA4 | c.6581C>T (p.Pro2194Leu) c.2957C>T (p.Pro986Leu) | |
1 | g.93998009G>C | CA341276531 | ABCA4 | c.6581C>G (p.Pro2194Arg) c.2957C>G (p.Pro986Arg) | |
1 | g.93998009G>T | CA341276532 | ABCA4 | c.6581C>A (p.Pro2194Gln) c.2957C>A (p.Pro986Gln) | |
1 | g.93998011del | CA2580063329 | ABCA4 | c.6581del (p.Pro2194GlnfsTer?) c.2957del (p.Pro986GlnfsTer?) | ClinVar |
1 | g.93998009_93998045delinsGGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCA | CA1181395248 | ABCA4 | c.6545_6581delinsTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCCC (p.Leu2182=) c.2921_2957delinsTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCCC (p.Leu974=) | |
1 | g.93998010G>A | CA341276533 | ABCA4 | c.6580C>T (p.Pro2194Ser) c.2956C>T (p.Pro986Ser) | |
1 | g.93998010G>C | CA341276534 | ABCA4 | c.6580C>G (p.Pro2194Ala) c.2956C>G (p.Pro986Ala) | dbSNP |
1 | g.93998010G= | CA1181395250 | ABCA4 | c.6580C= (p.Pro2194=) c.2956C= (p.Pro986=) | |
1 | g.93998010G>T | CA341276535 | ABCA4 | c.6580C>A (p.Pro2194Thr) c.2956C>A (p.Pro986Thr) | |
1 | g.93998010_93998047delinsGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCAGG | CA1140763460 | ABCA4 | c.6543_6580delinsCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCC (p.Asp2181=) c.2919_2956delinsCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTTCC (p.Asp973=) | |
1 | g.93998012_93998047del | CA227413 | ABCA4 | c.6545_6580del (p.Leu2182_Phe2193del) c.2921_2956del (p.Leu974_Phe985del) | ClinVar dbSNP gnomAD v4 |
1 | g.93998011G>A | CA956846 | ABCA4 | c.6579C>T (p.Phe2193=) c.2955C>T (p.Phe985=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93998011G>C | CA341276536 | ABCA4 | c.6579C>G (p.Phe2193Leu) c.2955C>G (p.Phe985Leu) | |
1 | g.93998011G= | CA1181395257 | ABCA4 | c.6579C= (p.Phe2193=) c.2955C= (p.Phe985=) | |
1 | g.93998011G>T | CA341276537 | ABCA4 | c.6579C>A (p.Phe2193Leu) c.2955C>A (p.Phe985Leu) | |
1 | g.93998012A>C | CA341276540 | ABCA4 | c.6578T>G (p.Phe2193Cys) c.2954T>G (p.Phe985Cys) | |
1 | g.93998012A>G | CA341276539 | ABCA4 | c.6578T>C (p.Phe2193Ser) c.2954T>C (p.Phe985Ser) | |
1 | g.93998012A>T | CA341276538 | ABCA4 | c.6578T>A (p.Phe2193Tyr) c.2954T>A (p.Phe985Tyr) | |
1 | g.93998013A= | CA1181395263 | ABCA4 | c.6577T= (p.Phe2193=) c.2953T= (p.Phe985=) | |
1 | g.93998013A>C | CA341276541 | ABCA4 | c.6577T>G (p.Phe2193Val) c.2953T>G (p.Phe985Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.93998013A>G | CA341276542 | ABCA4 | c.6577T>C (p.Phe2193Leu) c.2953T>C (p.Phe985Leu) | |
1 | g.93998013A>T | CA341276543 | ABCA4 | c.6577T>A (p.Phe2193Ile) c.2953T>A (p.Phe985Ile) | |
1 | g.93998014G>A | CA418808762 | ABCA4 | c.6576C>T (p.Asn2192=) c.2952C>T (p.Asn984=) | gnomAD v4 |
1 | g.93998014G>C | CA341276544 | ABCA4 | c.6576C>G (p.Asn2192Lys) c.2952C>G (p.Asn984Lys) | |
1 | g.93998014G>T | CA341276545 | ABCA4 | c.6576C>A (p.Asn2192Lys) c.2952C>A (p.Asn984Lys) | |
1 | g.93998015T>A | CA341276546 | ABCA4 | c.6575A>T (p.Asn2192Ile) c.2951A>T (p.Asn984Ile) | |
1 | g.93998015T>C | CA341276547 | ABCA4 | c.6575A>G (p.Asn2192Ser) c.2951A>G (p.Asn984Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93998015T>G | CA26828980 | ABCA4 | c.6575A>C (p.Asn2192Thr) c.2951A>C (p.Asn984Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.93998015T= | CA1142882616 | ABCA4 | c.6575A= (p.Asn2192=) c.2951A= (p.Asn984=) | |
1 | g.93998016T>A | CA341276548 | ABCA4 | c.6574A>T (p.Asn2192Tyr) c.2950A>T (p.Asn984Tyr) | |
1 | g.93998016T>C | CA341276549 | ABCA4 | c.6574A>G (p.Asn2192Asp) c.2950A>G (p.Asn984Asp) | |
1 | g.93998016T>G | CA341276550 | ABCA4 | c.6574A>C (p.Asn2192His) c.2950A>C (p.Asn984His) | |
1 | g.93998016T= | CA1181395271 | ABCA4 | c.6574A= (p.Asn2192=) c.2950A= (p.Asn984=) | |
1 | g.93998016_93998017insA | CA26828993 | ABCA4 | c.6573_6574insT (p.Asn2192Ter) c.2949_2950insT (p.Asn984Ter) | dbSNP |
1 | g.93998017C>A | CA418808780 | ABCA4 | c.6573G>T (p.Gly2191=) c.2949G>T (p.Gly983=) | gnomAD v4 |
1 | g.93998017C= | CA1181395273 | ABCA4 | c.6573G= (p.Gly2191=) c.2949G= (p.Gly983=) | |
1 | g.93998017C>G | CA418808783 | ABCA4 | c.6573G>C (p.Gly2191=) c.2949G>C (p.Gly983=) | |
1 | g.93998017C>T | CA26828994 | ABCA4 | c.6573G>A (p.Gly2191=) c.2949G>A (p.Gly983=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93998018C>A | CA341276551 | ABCA4 | c.6572G>T (p.Gly2191Val) c.2948G>T (p.Gly983Val) | |
1 | g.93998018C>G | CA341276553 | ABCA4 | c.6572G>C (p.Gly2191Ala) c.2948G>C (p.Gly983Ala) | |
1 | g.93998018C>T | CA341276552 | ABCA4 | c.6572G>A (p.Gly2191Glu) c.2948G>A (p.Gly983Glu) | |
1 | g.93998019C>A | CA341276554 | ABCA4 | c.6571G>T (p.Gly2191Trp) c.2947G>T (p.Gly983Trp) | |
1 | g.93998019C>G | CA341276555 | ABCA4 | c.6571G>C (p.Gly2191Arg) c.2947G>C (p.Gly983Arg) | |
1 | g.93998019C>T | CA341276556 | ABCA4 | c.6571G>A (p.Gly2191Arg) c.2947G>A (p.Gly983Arg) | |
1 | g.93998020C>A | CA341276557 | ABCA4 | c.6570G>T (p.Gln2190His) c.2946G>T (p.Gln982His) | |
1 | g.93998020C= | CA1181395278 | ABCA4 | c.6570G= (p.Gln2190=) c.2946G= (p.Gln982=) | |
1 | g.93998020C>G | CA341276558 | ABCA4 | c.6570G>C (p.Gln2190His) c.2946G>C (p.Gln982His) | gnomAD v4 |
1 | g.93998020C>T | CA418808802 | ABCA4 | c.6570G>A (p.Gln2190=) c.2946G>A (p.Gln982=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.93998021T>A | CA341276559 | ABCA4 | c.6569A>T (p.Gln2190Leu) c.2945A>T (p.Gln982Leu) | gnomAD v4 |
1 | g.93998021T>C | CA341276560 | ABCA4 | c.6569A>G (p.Gln2190Arg) c.2945A>G (p.Gln982Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.93998021T>G | CA341276561 | ABCA4 | c.6569A>C (p.Gln2190Pro) c.2945A>C (p.Gln982Pro) | gnomAD v4 |
1 | g.93998021T= | CA1181395281 | ABCA4 | c.6569A= (p.Gln2190=) c.2945A= (p.Gln982=) | |
1 | g.93998021_93998022delinsTG | CA1181395280 | ABCA4 | c.6568_6569delinsCA (p.Gln2190=) c.2944_2945delinsCA (p.Gln982=) | |
1 | g.93998022G>A | CA341276562 | ABCA4 | c.6568C>T (p.Gln2190Ter) c.2944C>T (p.Gln982Ter) | ClinVar dbSNP |
1 | g.93998022G>C | CA341276563 | ABCA4 | c.6568C>G (p.Gln2190Glu) c.2944C>G (p.Gln982Glu) | |
1 | g.93998022G>T | CA341276564 | ABCA4 | c.6568C>A (p.Gln2190Lys) c.2944C>A (p.Gln982Lys) | |
1 | g.93998022_93998023delinsGG | CA1140725943 | ABCA4 | c.6567_6568delinsCC (p.Phe2189=) c.2943_2944delinsCC (p.Phe981=) | |
1 | g.93998023del | CA227417 | ABCA4 | c.6568del (p.Gln2190ArgfsTer?) c.2944del (p.Gln982ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.93998023G>A | CA418808813 | ABCA4 | c.6567C>T (p.Phe2189=) c.2943C>T (p.Phe981=) | |
1 | g.93998023G>C | CA341276565 | ABCA4 | c.6567C>G (p.Phe2189Leu) c.2943C>G (p.Phe981Leu) | |
1 | g.93998023G>T | CA341276566 | ABCA4 | c.6567C>A (p.Phe2189Leu) c.2943C>A (p.Phe981Leu) | |
1 | g.93998024A>C | CA341276567 | ABCA4 | c.6566T>G (p.Phe2189Cys) c.2942T>G (p.Phe981Cys) | |
1 | g.93998024A>G | CA341276568 | ABCA4 | c.6566T>C (p.Phe2189Ser) c.2942T>C (p.Phe981Ser) | |
1 | g.93998024A>T | CA341276569 | ABCA4 | c.6566T>A (p.Phe2189Tyr) c.2942T>A (p.Phe981Tyr) | |
1 | g.93998025A>C | CA341276570 | ABCA4 | c.6565T>G (p.Phe2189Val) c.2941T>G (p.Phe981Val) | |
1 | g.93998025A>G | CA341276571 | ABCA4 | c.6565T>C (p.Phe2189Leu) c.2941T>C (p.Phe981Leu) | |
1 | g.93998025A>T | CA341276572 | ABCA4 | c.6565T>A (p.Phe2189Ile) c.2941T>A (p.Phe981Ile) | |
1 | g.93998026G>A | CA418808831 | ABCA4 | c.6564C>T (p.Phe2188=) c.2940C>T (p.Phe980=) | ClinVar dbSNP |
1 | g.93998026G>C | CA341276573 | ABCA4 | c.6564C>G (p.Phe2188Leu) c.2940C>G (p.Phe980Leu) | |
1 | g.93998026G= | CA1181395289 | ABCA4 | c.6564C= (p.Phe2188=) c.2940C= (p.Phe980=) | |
1 | g.93998026G>T | CA341276574 | ABCA4 | c.6564C>A (p.Phe2188Leu) c.2940C>A (p.Phe980Leu) | |
1 | g.93998027A= | CA1140725946 | ABCA4 | c.6563T= (p.Phe2188=) c.2939T= (p.Phe980=) | |
1 | g.93998027A>C | CA341276575 | ABCA4 | c.6563T>G (p.Phe2188Cys) c.2939T>G (p.Phe980Cys) | |
1 | g.93998027A>G | CA227415 | ABCA4 | c.6563T>C (p.Phe2188Ser) c.2939T>C (p.Phe980Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93998027A>T | CA341276576 | ABCA4 | c.6563T>A (p.Phe2188Tyr) c.2939T>A (p.Phe980Tyr) | |
1 | g.93998028A>C | CA341276578 | ABCA4 | c.6562T>G (p.Phe2188Val) c.2938T>G (p.Phe980Val) | |
1 | g.93998028A>G | CA341276579 | ABCA4 | c.6562T>C (p.Phe2188Leu) c.2938T>C (p.Phe980Leu) | gnomAD v4 |
1 | g.93998028A>T | CA341276577 | ABCA4 | c.6562T>A (p.Phe2188Ile) c.2938T>A (p.Phe980Ile) | |
1 | g.93998029C>A | CA341276580 | ABCA4 | c.6561G>T (p.Gln2187His) c.2937G>T (p.Gln979His) | ClinVar dbSNP |
1 | g.93998029C= | CA1181395295 | ABCA4 | c.6561G= (p.Gln2187=) c.2937G= (p.Gln979=) | |
1 | g.93998029C>G | CA341276581 | ABCA4 | c.6561G>C (p.Gln2187His) c.2937G>C (p.Gln979His) | |
1 | g.93998029C>T | CA418808842 | ABCA4 | c.6561G>A (p.Gln2187=) c.2937G>A (p.Gln979=) | |
1 | g.93998030T>A | CA341276582 | ABCA4 | c.6560A>T (p.Gln2187Leu) c.2936A>T (p.Gln979Leu) | |
1 | g.93998030T>C | CA341276583 | ABCA4 | c.6560A>G (p.Gln2187Arg) c.2936A>G (p.Gln979Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.93998030T>G | CA341276584 | ABCA4 | c.6560A>C (p.Gln2187Pro) c.2936A>C (p.Gln979Pro) | dbSNP |
1 | g.93998030T= | CA1181395297 | ABCA4 | c.6560A= (p.Gln2187=) c.2936A= (p.Gln979=) | |
1 | g.93998031G>A | CA341276585 | ABCA4 | c.6559C>T (p.Gln2187Ter) c.2935C>T (p.Gln979Ter) | dbSNP |
1 | g.93998031G>C | CA341276586 | ABCA4 | c.6559C>G (p.Gln2187Glu) c.2935C>G (p.Gln979Glu) | gnomAD v4 |
1 | g.93998031G= | CA1181395302 | ABCA4 | c.6559C= (p.Gln2187=) c.2935C= (p.Gln979=) | |
1 | g.93998031G>T | CA341276587 | ABCA4 | c.6559C>A (p.Gln2187Lys) c.2935C>A (p.Gln979Lys) | gnomAD v4 |
1 | g.93998032C>A | CA341276588 | ABCA4 | c.6558G>T (p.Glu2186Asp) c.2934G>T (p.Glu978Asp) | |
1 | g.93998032C>G | CA341276589 | ABCA4 | c.6558G>C (p.Glu2186Asp) c.2934G>C (p.Glu978Asp) | |
1 | g.93998032C>T | CA418808857 | ABCA4 | c.6558G>A (p.Glu2186=) c.2934G>A (p.Glu978=) |