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.94000935_94000952dup | CA418810686 | ABCA4 | c.6387-23_6387-6dup (n.6387-23_6387-6dup) c.2763-23_2763-6dup (n.2763-23_2763-6dup) | |
1 | g.94000943_94000946del | CA2837994682 | ABCA4 | c.6387-15_6387-12del (n.6387-15_6387-12del) c.2763-15_2763-12del (n.2763-15_2763-12del) | |
1 | g.94000948_94000950del | CA2580611179 | ABCA4 | c.6387-18_6387-16del (n.6387-18_6387-16del) c.2763-18_2763-16del (n.2763-18_2763-16del) | ClinVar dbSNP gnomAD v4 |
1 | g.94000946G>A | CA2573132672 | ABCA4 | c.6387-18C>T (n.6387-18C>T) c.2763-18C>T (n.2763-18C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.94000948A= | CA1181397597 | ABCA4 | c.6387-20T= (n.6387-20T=) c.2763-20T= (n.2763-20T=) | |
1 | g.94000948A>C | CA26831620 | ABCA4 | c.6387-20T>G (n.6387-20T>G) c.2763-20T>G (n.2763-20T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94000949G>A | CA524697323 | ABCA4 | c.6387-21C>T (n.6387-21C>T) c.2763-21C>T (n.2763-21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94000949G= | CA1181397598 | ABCA4 | c.6387-21C= (n.6387-21C=) c.2763-21C= (n.2763-21C=) | |
1 | g.94000949G>T | CA2646644971 | ABCA4 | c.6387-21C>A (n.6387-21C>A) c.2763-21C>A (n.2763-21C>A) | gnomAD v4 |
1 | g.94000950G>A | CA2646644972 | ABCA4 | c.6387-22C>T (n.6387-22C>T) c.2763-22C>T (n.2763-22C>T) | gnomAD v4 |
1 | g.94000951T>G | CA1181397601 | ABCA4 | c.6387-23A>C (n.6387-23A>C) c.2763-23A>C (n.2763-23A>C) | dbSNP |
1 | g.94000951T= | CA1181397600 | ABCA4 | c.6387-23A= (n.6387-23A=) c.2763-23A= (n.2763-23A=) | |
1 | g.94000953A= | CA1181397602 | ABCA4 | c.6387-25T= (n.6387-25T=) c.2763-25T= (n.2763-25T=) | |
1 | g.94000953A>G | CA956881 | ABCA4 | c.6387-25T>C (n.6387-25T>C) c.2763-25T>C (n.2763-25T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94000954G>A | CA1181397607 | ABCA4 | c.6387-26C>T (n.6387-26C>T) c.2763-26C>T (n.2763-26C>T) | dbSNP |
1 | g.94000954G= | CA1181397606 | ABCA4 | c.6387-26C= (n.6387-26C=) c.2763-26C= (n.2763-26C=) | |
1 | g.94000956A= | CA1181397610 | ABCA4 | c.6387-28T= (n.6387-28T=) c.2763-28T= (n.2763-28T=) | |
1 | g.94000956A>C | CA956883 | ABCA4 | c.6387-28T>G (n.6387-28T>G) c.2763-28T>G (n.2763-28T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94000956A>G | CA956882 | ABCA4 | c.6387-28T>C (n.6387-28T>C) c.2763-28T>C (n.2763-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94000957G>A | CA956884 | ABCA4 | c.6387-29C>T (n.6387-29C>T) c.2763-29C>T (n.2763-29C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94000957G= | CA1181397614 | ABCA4 | c.6387-29C= (n.6387-29C=) c.2763-29C= (n.2763-29C=) | |
1 | g.94000958G>A | CA1181397616 | ABCA4 | c.6387-30C>T (n.6387-30C>T) c.2763-30C>T (n.2763-30C>T) | dbSNP |
1 | g.94000958G>C | CA2646644973 | ABCA4 | c.6387-30C>G (n.6387-30C>G) c.2763-30C>G (n.2763-30C>G) | gnomAD v4 |
1 | g.94000958G= | CA1181397615 | ABCA4 | c.6387-30C= (n.6387-30C=) c.2763-30C= (n.2763-30C=) | |
1 | g.94000958G>T | CA2646644974 | ABCA4 | c.6387-30C>A (n.6387-30C>A) c.2763-30C>A (n.2763-30C>A) | gnomAD v4 |
1 | g.94000962G>A | CA956885 | ABCA4 | c.6387-34C>T (n.6387-34C>T) c.2763-34C>T (n.2763-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94000962G= | CA1181397617 | ABCA4 | c.6387-34C= (n.6387-34C=) c.2763-34C= (n.2763-34C=) | |
1 | g.94000962G>T | CA2646644975 | ABCA4 | c.6387-34C>A (n.6387-34C>A) c.2763-34C>A (n.2763-34C>A) | gnomAD v4 |
1 | g.94000963G>A | CA524697324 | ABCA4 | c.6387-35C>T (n.6387-35C>T) c.2763-35C>T (n.2763-35C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94000963G= | CA1181397618 | ABCA4 | c.6387-35C= (n.6387-35C=) c.2763-35C= (n.2763-35C=) | |
1 | g.94000965T>G | CA956886 | ABCA4 | c.6387-37A>C (n.6387-37A>C) c.2763-37A>C (n.2763-37A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94000965T= | CA1181397619 | ABCA4 | c.6387-37A= (n.6387-37A=) c.2763-37A= (n.2763-37A=) | |
1 | g.94000966T>C | CA1181397620 | ABCA4 | c.6386+36A>G (n.6386+36A>G) c.2762+36A>G (n.2762+36A>G) | dbSNP gnomAD v4 |
1 | g.94000966T= | CA1181397621 | ABCA4 | c.6386+36A= (n.6386+36A=) c.2762+36A= (n.2762+36A=) | |
1 | g.94000969C= | CA1181397623 | ABCA4 | c.6386+33G= (n.6386+33G=) c.2762+33G= (n.2762+33G=) | |
1 | g.94000969C>T | CA26831665 | ABCA4 | c.6386+33G>A (n.6386+33G>A) c.2762+33G>A (n.2762+33G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94000971C= | CA1181397624 | ABCA4 | c.6386+31G= (n.6386+31G=) c.2762+31G= (n.2762+31G=) | |
1 | g.94000971C>T | CA740502587 | ABCA4 | c.6386+31G>A (n.6386+31G>A) c.2762+31G>A (n.2762+31G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94000973del | CA2744613975 | ABCA4 | c.6386+31del (n.6386+31del) c.2762+31del (n.2762+31del) | |
1 | g.94000972C>A | CA2574437859 | ABCA4 | c.6386+30G>T (n.6386+30G>T) c.2762+30G>T (n.2762+30G>T) | gnomAD v4 |
1 | g.94000972C>T | CA2646644976 | ABCA4 | c.6386+30G>A (n.6386+30G>A) c.2762+30G>A (n.2762+30G>A) | gnomAD v4 |
1 | g.94000973C>A | CA2840711705 | ABCA4 | c.6386+29G>T (n.6386+29G>T) c.2762+29G>T (n.2762+29G>T) | |
1 | g.94000973C>T | CA2574437860 | ABCA4 | c.6386+29G>A (n.6386+29G>A) c.2762+29G>A (n.2762+29G>A) | gnomAD v4 |
1 | g.94000974A= | CA1181397627 | ABCA4 | c.6386+28T= (n.6386+28T=) c.2762+28T= (n.2762+28T=) | |
1 | g.94000974A>C | CA956887 | ABCA4 | c.6386+28T>G (n.6386+28T>G) c.2762+28T>G (n.2762+28T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94000974A>G | CA956888 | ABCA4 | c.6386+28T>C (n.6386+28T>C) c.2762+28T>C (n.2762+28T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94000975C= | CA1143123507 | ABCA4 | c.6386+27G= (n.6386+27G=) c.2762+27G= (n.2762+27G=) | |
1 | g.94000975C>T | CA956889 | ABCA4 | c.6386+27G>A (n.6386+27G>A) c.2762+27G>A (n.2762+27G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94000976C>A | CA2744613976 | ABCA4 | c.6386+26G>T (n.6386+26G>T) c.2762+26G>T (n.2762+26G>T) | |
1 | g.94000976C>G | CA2646644977 | ABCA4 | c.6386+26G>C (n.6386+26G>C) c.2762+26G>C (n.2762+26G>C) | gnomAD v4 |
1 | g.94000976C>T | CA2646644978 | ABCA4 | c.6386+26G>A (n.6386+26G>A) c.2762+26G>A (n.2762+26G>A) | gnomAD v4 |
1 | g.94000978T>C | CA2646644979 | ABCA4 | c.6386+24A>G (n.6386+24A>G) c.2762+24A>G (n.2762+24A>G) | gnomAD v4 |
1 | g.94000979C= | CA1181397629 | ABCA4 | c.6386+23G= (n.6386+23G=) c.2762+23G= (n.2762+23G=) | |
1 | g.94000979C>G | CA2646644980 | ABCA4 | c.6386+23G>C (n.6386+23G>C) c.2762+23G>C (n.2762+23G>C) | gnomAD v4 |
1 | g.94000979C>T | CA1181397631 | ABCA4 | c.6386+23G>A (n.6386+23G>A) c.2762+23G>A (n.2762+23G>A) | dbSNP |
1 | g.94000980C>A | CA2646644981 | ABCA4 | c.6386+22G>T (n.6386+22G>T) c.2762+22G>T (n.2762+22G>T) | gnomAD v4 |
1 | g.94000982C= | CA1181397633 | ABCA4 | c.6386+20G= (n.6386+20G=) c.2762+20G= (n.2762+20G=) | |
1 | g.94000982C>T | CA524697325 | ABCA4 | c.6386+20G>A (n.6386+20G>A) c.2762+20G>A (n.2762+20G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94000984G>T | CA2839780059 | ABCA4 | c.6386+18C>A (n.6386+18C>A) c.2762+18C>A (n.2762+18C>A) | |
1 | g.94000985C>T | CA2574437861 | ABCA4 | c.6386+17G>A (n.6386+17G>A) c.2762+17G>A (n.2762+17G>A) | gnomAD v4 |
1 | g.94000986C>T | CA2646644982 | ABCA4 | c.6386+16G>A (n.6386+16G>A) c.2762+16G>A (n.2762+16G>A) | gnomAD v4 |
1 | g.94000987C>G | CA2646644983 | ABCA4 | c.6386+15G>C (n.6386+15G>C) c.2762+15G>C (n.2762+15G>C) | gnomAD v4 |
1 | g.94000989G>C | CA740502601 | ABCA4 | c.6386+13C>G (n.6386+13C>G) c.2762+13C>G (n.2762+13C>G) | dbSNP gnomAD v4 |
1 | g.94000989G= | CA1181397634 | ABCA4 | c.6386+13C= (n.6386+13C=) c.2762+13C= (n.2762+13C=) | |
1 | g.94000989G>T | CA2574437862 | ABCA4 | c.6386+13C>A (n.6386+13C>A) c.2762+13C>A (n.2762+13C>A) | |
1 | g.94000991G>A | CA956890 | ABCA4 | c.6386+11C>T (n.6386+11C>T) c.2762+11C>T (n.2762+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94000991G= | CA1181397637 | ABCA4 | c.6386+11C= (n.6386+11C=) c.2762+11C= (n.2762+11C=) | |
1 | g.94000991G>T | CA524697326 | ABCA4 | c.6386+11C>A (n.6386+11C>A) c.2762+11C>A (n.2762+11C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94000992A>T | CA2580063367 | ABCA4 | c.6386+10T>A (n.6386+10T>A) c.2762+10T>A (n.2762+10T>A) | ClinVar gnomAD v4 |
1 | g.94000993A>C | CA2646644984 | ABCA4 | c.6386+9T>G (n.6386+9T>G) c.2762+9T>G (n.2762+9T>G) | gnomAD v4 |
1 | g.94000993A>G | CA2744613977 | ABCA4 | c.6386+9T>C (n.6386+9T>C) c.2762+9T>C (n.2762+9T>C) | |
1 | g.94000994T>G | CA524697327 | ABCA4 | c.6386+8A>C (n.6386+8A>C) c.2762+8A>C (n.2762+8A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94000994T= | CA1181397639 | ABCA4 | c.6386+8A= (n.6386+8A=) c.2762+8A= (n.2762+8A=) | |
1 | g.94000995C>A | CA2646644985 | ABCA4 | c.6386+7G>T (n.6386+7G>T) c.2762+7G>T (n.2762+7G>T) | gnomAD v4 |
1 | g.94000996T>G | CA2646644986 | ABCA4 | c.6386+6A>C (n.6386+6A>C) c.2762+6A>C (n.2762+6A>C) | gnomAD v4 |
1 | g.94000998T>C | CA2695198061 | ABCA4 | c.6386+4A>G (n.6386+4A>G) c.2762+4A>G (n.2762+4A>G) | ClinVar |
1 | g.94000999T>C | CA2586966854 | ABCA4 | c.6386+3A>G (n.6386+3A>G) c.2762+3A>G (n.2762+3A>G) | gnomAD v4 |
1 | g.94000999T>G | CA2573132673 | ABCA4 | c.6386+3A>C (n.6386+3A>C) c.2762+3A>C (n.2762+3A>C) | ClinVar dbSNP |
1 | g.94001000G>A | CA341277421 | ABCA4 | c.6386+2C>T (n.6386+2C>T) c.2762+2C>T (n.2762+2C>T) | |
1 | g.94001000G>C | CA227400 | ABCA4 | c.6386+2C>G (n.6386+2C>G) c.2762+2C>G (n.2762+2C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001000G= | CA1140725971 | ABCA4 | c.6386+2C= (n.6386+2C=) c.2762+2C= (n.2762+2C=) | |
1 | g.94001000G>T | CA341277422 | ABCA4 | c.6386+2C>A (n.6386+2C>A) c.2762+2C>A (n.2762+2C>A) | |
1 | g.94001001C>A | CA341277423 | ABCA4 | c.6386+1G>T (n.6386+1G>T) c.2762+1G>T (n.2762+1G>T) | dbSNP |
1 | g.94001001C= | CA1148251388 | ABCA4 | c.6386+1G= (n.6386+1G=) c.2762+1G= (n.2762+1G=) | |
1 | g.94001001C>G | CA341277424 | ABCA4 | c.6386+1G>C (n.6386+1G>C) c.2762+1G>C (n.2762+1G>C) | |
1 | g.94001001C>T | CA956891 | ABCA4 | c.6386+1G>A (n.6386+1G>A) c.2762+1G>A (n.2762+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001002C>A | CA341277425 | ABCA4 | c.6386G>T (p.Ser2129Ile) c.2762G>T (p.Ser921Ile) | COSMIC |
1 | g.94001002C= | CA1181397652 | ABCA4 | c.6386G= (p.Ser2129=) c.2762G= (p.Ser921=) | |
1 | g.94001002C>G | CA341277426 | ABCA4 | c.6386G>C (p.Ser2129Thr) c.2762G>C (p.Ser921Thr) | |
1 | g.94001002C>T | CA341277427 | ABCA4 | c.6386G>A (p.Ser2129Asn) c.2762G>A (p.Ser921Asn) | ClinVar dbSNP gnomAD v4 |
1 | g.94001003T>A | CA341277428 | ABCA4 | c.6385A>T (p.Ser2129Cys) c.2761A>T (p.Ser921Cys) | |
1 | g.94001003T>C | CA341277429 | ABCA4 | c.6385A>G (p.Ser2129Gly) c.2761A>G (p.Ser921Gly) | gnomAD v4 |
1 | g.94001003T>G | CA341277430 | ABCA4 | c.6385A>C (p.Ser2129Arg) c.2761A>C (p.Ser921Arg) | |
1 | g.94001004G>A | CA418810716 | ABCA4 | c.6384C>T (p.His2128=) c.2760C>T (p.His920=) | ClinVar dbSNP |
1 | g.94001004G>C | CA341277431 | ABCA4 | c.6384C>G (p.His2128Gln) c.2760C>G (p.His920Gln) | |
1 | g.94001004G>T | CA341277432 | ABCA4 | c.6384C>A (p.His2128Gln) c.2760C>A (p.His920Gln) | |
1 | g.94001005T>A | CA341277433 | ABCA4 | c.6383A>T (p.His2128Leu) c.2759A>T (p.His920Leu) | |
1 | g.94001005T>C | CA227399 | ABCA4 | c.6383A>G (p.His2128Arg) c.2759A>G (p.His920Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001005T>G | CA341277434 | ABCA4 | c.6383A>C (p.His2128Pro) c.2759A>C (p.His920Pro) | |
1 | g.94001005T= | CA1140725975 | ABCA4 | c.6383A= (p.His2128=) c.2759A= (p.His920=) | |
1 | g.94001006G>A | CA341277435 | ABCA4 | c.6382C>T (p.His2128Tyr) c.2758C>T (p.His920Tyr) | |
1 | g.94001006G>C | CA341277436 | ABCA4 | c.6382C>G (p.His2128Asp) c.2758C>G (p.His920Asp) | |
1 | g.94001006G>T | CA341277437 | ABCA4 | c.6382C>A (p.His2128Asn) c.2758C>A (p.His920Asn) | |
1 | g.94001007G>A | CA418810727 | ABCA4 | c.6381C>T (p.Ser2127=) c.2757C>T (p.Ser919=) | |
1 | g.94001007G>C | CA418810730 | ABCA4 | c.6381C>G (p.Ser2127=) c.2757C>G (p.Ser919=) | dbSNP gnomAD v4 |
1 | g.94001007G= | CA1181397664 | ABCA4 | c.6381C= (p.Ser2127=) c.2757C= (p.Ser919=) | |
1 | g.94001007G>T | CA418810728 | ABCA4 | c.6381C>A (p.Ser2127=) c.2757C>A (p.Ser919=) | |
1 | g.94001008G>A | CA341277438 | ABCA4 | c.6380C>T (p.Ser2127Phe) c.2756C>T (p.Ser919Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001008G>C | CA341277439 | ABCA4 | c.6380C>G (p.Ser2127Cys) c.2756C>G (p.Ser919Cys) | |
1 | g.94001008G= | CA1181397669 | ABCA4 | c.6380C= (p.Ser2127=) c.2756C= (p.Ser919=) | |
1 | g.94001008G>T | CA341277440 | ABCA4 | c.6380C>A (p.Ser2127Tyr) c.2756C>A (p.Ser919Tyr) | |
1 | g.94001009A>C | CA341277441 | ABCA4 | c.6379T>G (p.Ser2127Ala) c.2755T>G (p.Ser919Ala) | |
1 | g.94001009A>G | CA341277442 | ABCA4 | c.6379T>C (p.Ser2127Pro) c.2755T>C (p.Ser919Pro) | ClinVar dbSNP |
1 | g.94001009A>T | CA341277443 | ABCA4 | c.6379T>A (p.Ser2127Thr) c.2755T>A (p.Ser919Thr) | |
1 | g.94001010T>A | CA418810740 | ABCA4 | c.6378A>T (p.Thr2126=) c.2754A>T (p.Thr918=) | dbSNP |
1 | g.94001010T>C | CA418810742 | ABCA4 | c.6378A>G (p.Thr2126=) c.2754A>G (p.Thr918=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001010T>G | CA418810744 | ABCA4 | c.6378A>C (p.Thr2126=) c.2754A>C (p.Thr918=) | |
1 | g.94001010T= | CA1181397672 | ABCA4 | c.6378A= (p.Thr2126=) c.2754A= (p.Thr918=) | |
1 | g.94001011G>A | CA341277446 | ABCA4 | c.6377C>T (p.Thr2126Ile) c.2753C>T (p.Thr918Ile) | ClinVar dbSNP |
1 | g.94001011G>C | CA341277444 | ABCA4 | c.6377C>G (p.Thr2126Arg) c.2753C>G (p.Thr918Arg) | |
1 | g.94001011G>T | CA341277445 | ABCA4 | c.6377C>A (p.Thr2126Lys) c.2753C>A (p.Thr918Lys) | |
1 | g.94001012T>A | CA956892 | ABCA4 | c.6376A>T (p.Thr2126Ser) c.2752A>T (p.Thr918Ser) | dbSNP ExAC gnomAD v4 |
1 | g.94001012T>C | CA341277448 | ABCA4 | c.6376A>G (p.Thr2126Ala) c.2752A>G (p.Thr918Ala) | |
1 | g.94001012T>G | CA341277447 | ABCA4 | c.6376A>C (p.Thr2126Pro) c.2752A>C (p.Thr918Pro) | |
1 | g.94001012T= | CA1181397675 | ABCA4 | c.6376A= (p.Thr2126=) c.2752A= (p.Thr918=) | |
1 | g.94001013G>A | CA418810755 | ABCA4 | c.6375C>T (p.Leu2125=) c.2751C>T (p.Leu917=) | |
1 | g.94001013G>C | CA418810759 | ABCA4 | c.6375C>G (p.Leu2125=) c.2751C>G (p.Leu917=) | |
1 | g.94001013G>T | CA418810757 | ABCA4 | c.6375C>A (p.Leu2125=) c.2751C>A (p.Leu917=) | |
1 | g.94001014A>C | CA341277449 | ABCA4 | c.6374T>G (p.Leu2125Arg) c.2750T>G (p.Leu917Arg) | |
1 | g.94001014A>G | CA341277450 | ABCA4 | c.6374T>C (p.Leu2125Pro) c.2750T>C (p.Leu917Pro) | |
1 | g.94001014A>T | CA341277451 | ABCA4 | c.6374T>A (p.Leu2125His) c.2750T>A (p.Leu917His) | |
1 | g.94001015G>A | CA341277452 | ABCA4 | c.6373C>T (p.Leu2125Phe) c.2749C>T (p.Leu917Phe) | |
1 | g.94001015G>C | CA341277453 | ABCA4 | c.6373C>G (p.Leu2125Val) c.2749C>G (p.Leu917Val) | |
1 | g.94001015G>T | CA341277454 | ABCA4 | c.6373C>A (p.Leu2125Ile) c.2749C>A (p.Leu917Ile) | |
1 | g.94001016G>A | CA418810766 | ABCA4 | c.6372C>T (p.Val2124=) c.2748C>T (p.Val916=) | |
1 | g.94001016G>C | CA418810768 | ABCA4 | c.6372C>G (p.Val2124=) c.2748C>G (p.Val916=) | gnomAD v4 |
1 | g.94001016G>T | CA418810770 | ABCA4 | c.6372C>A (p.Val2124=) c.2748C>A (p.Val916=) | |
1 | g.94001017A>C | CA341277455 | ABCA4 | c.6371T>G (p.Val2124Gly) c.2747T>G (p.Val916Gly) | |
1 | g.94001017A>G | CA341277456 | ABCA4 | c.6371T>C (p.Val2124Ala) c.2747T>C (p.Val916Ala) | |
1 | g.94001017A>T | CA341277457 | ABCA4 | c.6371T>A (p.Val2124Asp) c.2747T>A (p.Val916Asp) | |
1 | g.94001018C>A | CA341277458 | ABCA4 | c.6370G>T (p.Val2124Phe) c.2746G>T (p.Val916Phe) | |
1 | g.94001018C= | CA1149069588 | ABCA4 | c.6370G= (p.Val2124=) c.2746G= (p.Val916=) | |
1 | g.94001018C>G | CA341277459 | ABCA4 | c.6370G>C (p.Val2124Leu) c.2746G>C (p.Val916Leu) | |
1 | g.94001018C>T | CA956893 | ABCA4 | c.6370G>A (p.Val2124Ile) c.2746G>A (p.Val916Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001019C>A | CA418810780 | ABCA4 | c.6369G>T (p.Val2123=) c.2745G>T (p.Val915=) | |
1 | g.94001019C>G | CA418810782 | ABCA4 | c.6369G>C (p.Val2123=) c.2745G>C (p.Val915=) | |
1 | g.94001019C>T | CA418810783 | ABCA4 | c.6369G>A (p.Val2123=) c.2745G>A (p.Val915=) | ClinVar gnomAD v4 |
1 | g.94001020A>C | CA341277462 | ABCA4 | c.6368T>G (p.Val2123Gly) c.2744T>G (p.Val915Gly) | |
1 | g.94001020A>G | CA341277460 | ABCA4 | c.6368T>C (p.Val2123Ala) c.2744T>C (p.Val915Ala) | |
1 | g.94001020A>T | CA341277461 | ABCA4 | c.6368T>A (p.Val2123Glu) c.2744T>A (p.Val915Glu) | |
1 | g.94001021C>A | CA341277463 | ABCA4 | c.6367G>T (p.Val2123Leu) c.2743G>T (p.Val915Leu) | |
1 | g.94001021C= | CA1144652171 | ABCA4 | c.6367G= (p.Val2123=) c.2743G= (p.Val915=) | |
1 | g.94001021C>G | CA341277464 | ABCA4 | c.6367G>C (p.Val2123Leu) c.2743G>C (p.Val915Leu) | |
1 | g.94001021C>T | CA956894 | ABCA4 | c.6367G>A (p.Val2123Met) c.2743G>A (p.Val915Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001022A>C | CA418810798 | ABCA4 | c.6366T>G (p.Ala2122=) c.2742T>G (p.Ala914=) | |
1 | g.94001022A>G | CA418810793 | ABCA4 | c.6366T>C (p.Ala2122=) c.2742T>C (p.Ala914=) | |
1 | g.94001022A>T | CA418810795 | ABCA4 | c.6366T>A (p.Ala2122=) c.2742T>A (p.Ala914=) | |
1 | g.94001023G>A | CA341277465 | ABCA4 | c.6365C>T (p.Ala2122Val) c.2741C>T (p.Ala914Val) | |
1 | g.94001023G>C | CA341277466 | ABCA4 | c.6365C>G (p.Ala2122Gly) c.2741C>G (p.Ala914Gly) | |
1 | g.94001023G>T | CA341277467 | ABCA4 | c.6365C>A (p.Ala2122Asp) c.2741C>A (p.Ala914Asp) | COSMIC COSMIC |
1 | g.94001024C>A | CA341277468 | ABCA4 | c.6364G>T (p.Ala2122Ser) c.2740G>T (p.Ala914Ser) | gnomAD v4 |
1 | g.94001024C>G | CA341277469 | ABCA4 | c.6364G>C (p.Ala2122Pro) c.2740G>C (p.Ala914Pro) | |
1 | g.94001024C>T | CA341277470 | ABCA4 | c.6364G>A (p.Ala2122Thr) c.2740G>A (p.Ala914Thr) | |
1 | g.94001025C>A | CA341277471 | ABCA4 | c.6363G>T (p.Arg2121Ser) c.2739G>T (p.Arg913Ser) | |
1 | g.94001025C>G | CA341277472 | ABCA4 | c.6363G>C (p.Arg2121Ser) c.2739G>C (p.Arg913Ser) | |
1 | g.94001025C>T | CA418810809 | ABCA4 | c.6363G>A (p.Arg2121=) c.2739G>A (p.Arg913=) | |
1 | g.94001026C>A | CA341277475 | ABCA4 | c.6362G>T (p.Arg2121Met) c.2738G>T (p.Arg913Met) | |
1 | g.94001026C>G | CA341277474 | ABCA4 | c.6362G>C (p.Arg2121Thr) c.2738G>C (p.Arg913Thr) | |
1 | g.94001026C>T | CA341277473 | ABCA4 | c.6362G>A (p.Arg2121Lys) c.2738G>A (p.Arg913Lys) | gnomAD v4 |
1 | g.94001027T>A | CA341277477 | ABCA4 | c.6361A>T (p.Arg2121Trp) c.2737A>T (p.Arg913Trp) | |
1 | g.94001027T>C | CA341277476 | ABCA4 | c.6361A>G (p.Arg2121Gly) c.2737A>G (p.Arg913Gly) | |
1 | g.94001027T>G | CA418810815 | ABCA4 | c.6361A>C (p.Arg2121=) c.2737A>C (p.Arg913=) | |
1 | g.94001028C>A | CA418810822 | ABCA4 | c.6360G>T (p.Gly2120=) c.2736G>T (p.Gly912=) | |
1 | g.94001028C= | CA1181397682 | ABCA4 | c.6360G= (p.Gly2120=) c.2736G= (p.Gly912=) | |
1 | g.94001028C>G | CA418810819 | ABCA4 | c.6360G>C (p.Gly2120=) c.2736G>C (p.Gly912=) | gnomAD v4 |
1 | g.94001028C>T | CA418810820 | ABCA4 | c.6360G>A (p.Gly2120=) c.2736G>A (p.Gly912=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.94001029C>A | CA341277478 | ABCA4 | c.6359G>T (p.Gly2120Val) c.2735G>T (p.Gly912Val) | |
1 | g.94001029C>G | CA341277479 | ABCA4 | c.6359G>C (p.Gly2120Ala) c.2735G>C (p.Gly912Ala) | |
1 | g.94001029C>T | CA341277480 | ABCA4 | c.6359G>A (p.Gly2120Glu) c.2735G>A (p.Gly912Glu) | COSMIC |
1 | g.94001030C>A | CA341277481 | ABCA4 | c.6358G>T (p.Gly2120Trp) c.2734G>T (p.Gly912Trp) | gnomAD v4 |
1 | g.94001030C>G | CA341277482 | ABCA4 | c.6358G>C (p.Gly2120Arg) c.2734G>C (p.Gly912Arg) | |
1 | g.94001030C>T | CA341277483 | ABCA4 | c.6358G>A (p.Gly2120Arg) c.2734G>A (p.Gly912Arg) | |
1 | g.94001031T>A | CA341277484 | ABCA4 | c.6357A>T (p.Glu2119Asp) c.2733A>T (p.Glu911Asp) | gnomAD v4 |
1 | g.94001031T>C | CA956895 | ABCA4 | c.6357A>G (p.Glu2119=) c.2733A>G (p.Glu911=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94001031T>G | CA341277485 | ABCA4 | c.6357A>C (p.Glu2119Asp) c.2733A>C (p.Glu911Asp) | |
1 | g.94001031T= | CA1181397688 | ABCA4 | c.6357A= (p.Glu2119=) c.2733A= (p.Glu911=) | |
1 | g.94001032T>A | CA341277486 | ABCA4 | c.6356A>T (p.Glu2119Val) c.2732A>T (p.Glu911Val) | |
1 | g.94001032T>C | CA341277487 | ABCA4 | c.6356A>G (p.Glu2119Gly) c.2732A>G (p.Glu911Gly) | |
1 | g.94001032T>G | CA341277488 | ABCA4 | c.6356A>C (p.Glu2119Ala) c.2732A>C (p.Glu911Ala) | |
1 | g.94001033del | CA2586966855 | ABCA4 | c.6355del (p.Glu2119LysfsTer26) c.2731del (p.Glu911LysfsTer26) | |
1 | g.94001033C>A | CA341277491 | ABCA4 | c.6355G>T (p.Glu2119Ter) c.2731G>T (p.Glu911Ter) | |
1 | g.94001033C= | CA1181397689 | ABCA4 | c.6355G= (p.Glu2119=) c.2731G= (p.Glu911=) | |
1 | g.94001033C>G | CA341277489 | ABCA4 | c.6355G>C (p.Glu2119Gln) c.2731G>C (p.Glu911Gln) | |
1 | g.94001033C>T | CA341277490 | ABCA4 | c.6355G>A (p.Glu2119Lys) c.2731G>A (p.Glu911Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001034T>A | CA341277492 | ABCA4 | c.6354A>T (p.Arg2118Ser) c.2730A>T (p.Arg910Ser) | |
1 | g.94001034T>C | CA418810845 | ABCA4 | c.6354A>G (p.Arg2118=) c.2730A>G (p.Arg910=) | gnomAD v4 |
1 | g.94001034T>G | CA341277493 | ABCA4 | c.6354A>C (p.Arg2118Ser) c.2730A>C (p.Arg910Ser) | |
1 | g.94001035C>A | CA341277494 | ABCA4 | c.6353G>T (p.Arg2118Ile) c.2729G>T (p.Arg910Ile) | |
1 | g.94001035C>G | CA341277495 | ABCA4 | c.6353G>C (p.Arg2118Thr) c.2729G>C (p.Arg910Thr) | |
1 | g.94001035C>T | CA341277496 | ABCA4 | c.6353G>A (p.Arg2118Lys) c.2729G>A (p.Arg910Lys) | |
1 | g.94001035dup | CA2840711706 | ABCA4 | c.6353dup (p.Glu2119ArgfsTer16) c.2729dup (p.Glu911ArgfsTer16) | |
1 | g.94001035_94001036delinsCT | CA1181397691 | ABCA4 | c.6352_6353delinsAG (p.Arg2118=) c.2728_2729delinsAG (p.Arg910=) | |
1 | g.94001036del | CA227398 | ABCA4 | c.6352del (p.Arg2118GlufsTer27) c.2728del (p.Arg910GlufsTer27) | ClinVar dbSNP gnomAD v4 |
1 | g.94001036T>A | CA341277497 | ABCA4 | c.6352A>T (p.Arg2118Ter) c.2728A>T (p.Arg910Ter) | |
1 | g.94001036T>C | CA341277498 | ABCA4 | c.6352A>G (p.Arg2118Gly) c.2728A>G (p.Arg910Gly) | |
1 | g.94001036T>G | CA418810853 | ABCA4 | c.6352A>C (p.Arg2118=) c.2728A>C (p.Arg910=) | |
1 | g.94001036T= | CA1140725977 | ABCA4 | c.6352A= (p.Arg2118=) c.2728A= (p.Arg910=) | |
1 | g.94001037G>A | CA418810858 | ABCA4 | c.6351C>T (p.Ile2117=) c.2727C>T (p.Ile909=) | |
1 | g.94001037G>C | CA341277499 | ABCA4 | c.6351C>G (p.Ile2117Met) c.2727C>G (p.Ile909Met) | |
1 | g.94001037G>T | CA418810856 | ABCA4 | c.6351C>A (p.Ile2117=) c.2727C>A (p.Ile909=) | |
1 | g.94001038A>C | CA341277500 | ABCA4 | c.6350T>G (p.Ile2117Ser) c.2726T>G (p.Ile909Ser) | |
1 | g.94001038A>G | CA341277501 | ABCA4 | c.6350T>C (p.Ile2117Thr) c.2726T>C (p.Ile909Thr) | |
1 | g.94001038A>T | CA341277502 | ABCA4 | c.6350T>A (p.Ile2117Asn) c.2726T>A (p.Ile909Asn) | |
1 | g.94001039T>A | CA341277504 | ABCA4 | c.6349A>T (p.Ile2117Phe) c.2725A>T (p.Ile909Phe) | |
1 | g.94001039T>C | CA341277505 | ABCA4 | c.6349A>G (p.Ile2117Val) c.2725A>G (p.Ile909Val) | |
1 | g.94001039T>G | CA341277503 | ABCA4 | c.6349A>C (p.Ile2117Leu) c.2725A>C (p.Ile909Leu) | |
1 | g.94001040G>A | CA418810871 | ABCA4 | c.6348C>T (p.Ile2116=) c.2724C>T (p.Ile908=) | |
1 | g.94001040G>C | CA341277506 | ABCA4 | c.6348C>G (p.Ile2116Met) c.2724C>G (p.Ile908Met) | |
1 | g.94001040G>T | CA418810869 | ABCA4 | c.6348C>A (p.Ile2116=) c.2724C>A (p.Ile908=) | |
1 | g.94001041A= | CA1181397697 | ABCA4 | c.6347T= (p.Ile2116=) c.2723T= (p.Ile908=) | |
1 | g.94001041A>C | CA341277508 | ABCA4 | c.6347T>G (p.Ile2116Ser) c.2723T>G (p.Ile908Ser) | |
1 | g.94001041A>G | CA341277507 | ABCA4 | c.6347T>C (p.Ile2116Thr) c.2723T>C (p.Ile908Thr) | |
1 | g.94001041A>T | CA956896 | ABCA4 | c.6347T>A (p.Ile2116Asn) c.2723T>A (p.Ile908Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001042T>A | CA341277509 | ABCA4 | c.6346A>T (p.Ile2116Phe) c.2722A>T (p.Ile908Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001042T>C | CA956897 | ABCA4 | c.6346A>G (p.Ile2116Val) c.2722A>G (p.Ile908Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.94001042T>G | CA341277510 | ABCA4 | c.6346A>C (p.Ile2116Leu) c.2722A>C (p.Ile908Leu) | |
1 | g.94001042T= | CA1181397700 | ABCA4 | c.6346A= (p.Ile2116=) c.2722A= (p.Ile908=) | |
1 | g.94001043G>A | CA418810883 | ABCA4 | c.6345C>T (p.Ser2115=) c.2721C>T (p.Ser907=) | |
1 | g.94001043G>C | CA341277511 | ABCA4 | c.6345C>G (p.Ser2115Arg) c.2721C>G (p.Ser907Arg) | |
1 | g.94001043G>T | CA341277512 | ABCA4 | c.6345C>A (p.Ser2115Arg) c.2721C>A (p.Ser907Arg) | COSMIC COSMIC |
1 | g.94001044C>A | CA341277513 | ABCA4 | c.6344G>T (p.Ser2115Ile) c.2720G>T (p.Ser907Ile) | |
1 | g.94001044C>G | CA341277514 | ABCA4 | c.6344G>C (p.Ser2115Thr) c.2720G>C (p.Ser907Thr) | gnomAD v4 |
1 | g.94001044C>T | CA341277515 | ABCA4 | c.6344G>A (p.Ser2115Asn) c.2720G>A (p.Ser907Asn) | COSMIC |
1 | g.94001045T>A | CA341277516 | ABCA4 | c.6343A>T (p.Ser2115Cys) c.2719A>T (p.Ser907Cys) | |
1 | g.94001045T>C | CA341277517 | ABCA4 | c.6343A>G (p.Ser2115Gly) c.2719A>G (p.Ser907Gly) | |
1 | g.94001045T>G | CA341277518 | ABCA4 | c.6343A>C (p.Ser2115Arg) c.2719A>C (p.Ser907Arg) | |
1 | g.94001046C>A | CA418810892 | ABCA4 | c.6342G>T (p.Val2114=) c.2718G>T (p.Val906=) | |
1 | g.94001046C= | CA1140725980 | ABCA4 | c.6342G= (p.Val2114=) c.2718G= (p.Val906=) | |
1 | g.94001046C>G | CA418810894 | ABCA4 | c.6342G>C (p.Val2114=) c.2718G>C (p.Val906=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94001046C>T | CA227396 | ABCA4 | c.6342G>A (p.Val2114=) c.2718G>A (p.Val906=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |