Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.54627812T>A | CA370980740 | RP1 | c.3930T>A (p.Phe1310Leu) c.787+5524T>A (n.787+5524T>A) c.3951T>A (p.Phe1317Leu) | |
8 | g.54627812T>C | CA461099475 | RP1 | c.3930T>C (p.Phe1310=) c.787+5524T>C (n.787+5524T>C) c.3951T>C (p.Phe1317=) | |
8 | g.54627812T>G | CA370980741 | RP1 | c.3930T>G (p.Phe1310Leu) c.787+5524T>G (n.787+5524T>G) c.3951T>G (p.Phe1317Leu) | |
8 | g.54627813T>A | CA370980742 | RP1 | c.3931T>A (p.Ser1311Thr) c.787+5525T>A (n.787+5525T>A) c.3952T>A (p.Ser1318Thr) | |
8 | g.54627813T>C | CA370980743 | RP1 | c.3931T>C (p.Ser1311Pro) c.787+5525T>C (n.787+5525T>C) c.3952T>C (p.Ser1318Pro) | |
8 | g.54627813T>G | CA370980744 | RP1 | c.3931T>G (p.Ser1311Ala) c.787+5525T>G (n.787+5525T>G) c.3952T>G (p.Ser1318Ala) | |
8 | g.54627814C>A | CA370980745 | RP1 | c.3932C>A (p.Ser1311Tyr) c.787+5526C>A (n.787+5526C>A) c.3953C>A (p.Ser1318Tyr) | |
8 | g.54627814C>G | CA370980747 | RP1 | c.3932C>G (p.Ser1311Cys) c.787+5526C>G (n.787+5526C>G) c.3953C>G (p.Ser1318Cys) | |
8 | g.54627814C>T | CA370980746 | RP1 | c.3932C>T (p.Ser1311Phe) c.787+5526C>T (n.787+5526C>T) c.3953C>T (p.Ser1318Phe) | gnomAD v4 |
8 | g.54627815T>A | CA461099489 | RP1 | c.3933T>A (p.Ser1311=) c.787+5527T>A (n.787+5527T>A) c.3954T>A (p.Ser1318=) | |
8 | g.54627815T>C | CA461099491 | RP1 | c.3933T>C (p.Ser1311=) c.787+5527T>C (n.787+5527T>C) c.3954T>C (p.Ser1318=) | |
8 | g.54627815T>G | CA461099492 | RP1 | c.3933T>G (p.Ser1311=) c.787+5527T>G (n.787+5527T>G) c.3954T>G (p.Ser1318=) | |
8 | g.54627816G>A | CA370980748 | RP1 | c.3934G>A (p.Asp1312Asn) c.787+5528G>A (n.787+5528G>A) c.3955G>A (p.Asp1319Asn) | ClinVar gnomAD v4 COSMIC |
8 | g.54627816G>C | CA370980749 | RP1 | c.3934G>C (p.Asp1312His) c.787+5528G>C (n.787+5528G>C) c.3955G>C (p.Asp1319His) | |
8 | g.54627816G>T | CA370980750 | RP1 | c.3934G>T (p.Asp1312Tyr) c.787+5528G>T (n.787+5528G>T) c.3955G>T (p.Asp1319Tyr) | |
8 | g.54627817A>C | CA370980751 | RP1 | c.3935A>C (p.Asp1312Ala) c.787+5529A>C (n.787+5529A>C) c.3956A>C (p.Asp1319Ala) | |
8 | g.54627817A>G | CA370980752 | RP1 | c.3935A>G (p.Asp1312Gly) c.787+5529A>G (n.787+5529A>G) c.3956A>G (p.Asp1319Gly) | |
8 | g.54627817A>T | CA370980753 | RP1 | c.3935A>T (p.Asp1312Val) c.787+5529A>T (n.787+5529A>T) c.3956A>T (p.Asp1319Val) | gnomAD v4 |
8 | g.54627818T>A | CA370980754 | RP1 | c.3936T>A (p.Asp1312Glu) c.787+5530T>A (n.787+5530T>A) c.3957T>A (p.Asp1319Glu) | |
8 | g.54627818T>C | CA461099495 | RP1 | c.3936T>C (p.Asp1312=) c.787+5530T>C (n.787+5530T>C) c.3957T>C (p.Asp1319=) | |
8 | g.54627818T>G | CA370980755 | RP1 | c.3936T>G (p.Asp1312Glu) c.787+5530T>G (n.787+5530T>G) c.3957T>G (p.Asp1319Glu) | |
8 | g.54627819A>C | CA370980756 | RP1 | c.3937A>C (p.Lys1313Gln) c.787+5531A>C (n.787+5531A>C) c.3958A>C (p.Lys1320Gln) | |
8 | g.54627819A>G | CA370980757 | RP1 | c.3937A>G (p.Lys1313Glu) c.787+5531A>G (n.787+5531A>G) c.3958A>G (p.Lys1320Glu) | |
8 | g.54627819A>T | CA370980758 | RP1 | c.3937A>T (p.Lys1313Ter) c.787+5531A>T (n.787+5531A>T) c.3958A>T (p.Lys1320Ter) | COSMIC |
8 | g.54627820A= | CA1785188898 | RP1 | c.3938A= (p.Lys1313=) c.787+5532A= (n.787+5532A=) c.3959A= (p.Lys1320=) | |
8 | g.54627820A>C | CA370980760 | RP1 | c.3938A>C (p.Lys1313Thr) c.787+5532A>C (n.787+5532A>C) c.3959A>C (p.Lys1320Thr) | dbSNP |
8 | g.54627820A>G | CA370980761 | RP1 | c.3938A>G (p.Lys1313Arg) c.787+5532A>G (n.787+5532A>G) c.3959A>G (p.Lys1320Arg) | |
8 | g.54627820A>T | CA370980759 | RP1 | c.3938A>T (p.Lys1313Met) c.787+5532A>T (n.787+5532A>T) c.3959A>T (p.Lys1320Met) | |
8 | g.54627821G>A | CA461099501 | RP1 | c.3939G>A (p.Lys1313=) c.787+5533G>A (n.787+5533G>A) c.3960G>A (p.Lys1320=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627821G>C | CA370980762 | RP1 | c.3939G>C (p.Lys1313Asn) c.787+5533G>C (n.787+5533G>C) c.3960G>C (p.Lys1320Asn) | |
8 | g.54627821G= | CA1785188899 | RP1 | c.3939G= (p.Lys1313=) c.787+5533G= (n.787+5533G=) c.3960G= (p.Lys1320=) | |
8 | g.54627821G>T | CA370980763 | RP1 | c.3939G>T (p.Lys1313Asn) c.787+5533G>T (n.787+5533G>T) c.3960G>T (p.Lys1320Asn) | |
8 | g.54627822G>A | CA4751769 | RP1 | c.3940G>A (p.Ala1314Thr) c.787+5534G>A (n.787+5534G>A) c.3961G>A (p.Ala1321Thr) | dbSNP ExAC gnomAD v2 COSMIC |
8 | g.54627822G>C | CA4751768 | RP1 | c.3940G>C (p.Ala1314Pro) c.787+5534G>C (n.787+5534G>C) c.3961G>C (p.Ala1321Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627822G= | CA1785188900 | RP1 | c.3940G= (p.Ala1314=) c.787+5534G= (n.787+5534G=) c.3961G= (p.Ala1321=) | |
8 | g.54627822G>T | CA370980764 | RP1 | c.3940G>T (p.Ala1314Ser) c.787+5534G>T (n.787+5534G>T) c.3961G>T (p.Ala1321Ser) | |
8 | g.54627823C>A | CA4751771 | RP1 | c.3941C>A (p.Ala1314Asp) c.787+5535C>A (n.787+5535C>A) c.3962C>A (p.Ala1321Asp) | dbSNP ExAC |
8 | g.54627823C= | CA1785188901 | RP1 | c.3941C= (p.Ala1314=) c.787+5535C= (n.787+5535C=) c.3962C= (p.Ala1321=) | |
8 | g.54627823C>G | CA370980765 | RP1 | c.3941C>G (p.Ala1314Gly) c.787+5535C>G (n.787+5535C>G) c.3962C>G (p.Ala1321Gly) | |
8 | g.54627823C>T | CA4751770 | RP1 | c.3941C>T (p.Ala1314Val) c.787+5535C>T (n.787+5535C>T) c.3962C>T (p.Ala1321Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.54627824T>A | CA461099509 | RP1 | c.3942T>A (p.Ala1314=) c.787+5536T>A (n.787+5536T>A) c.3963T>A (p.Ala1321=) | |
8 | g.54627824T>C | CA4751772 | RP1 | c.3942T>C (p.Ala1314=) c.787+5536T>C (n.787+5536T>C) c.3963T>C (p.Ala1321=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627824T>G | CA461099513 | RP1 | c.3942T>G (p.Ala1314=) c.787+5536T>G (n.787+5536T>G) c.3963T>G (p.Ala1321=) | |
8 | g.54627824T= | CA1785188902 | RP1 | c.3942T= (p.Ala1314=) c.787+5536T= (n.787+5536T=) c.3963T= (p.Ala1321=) | |
8 | g.54627825T>A | CA370980767 | RP1 | c.3943T>A (p.Cys1315Ser) c.787+5537T>A (n.787+5537T>A) c.3964T>A (p.Cys1322Ser) | |
8 | g.54627825T>C | CA4751773 | RP1 | c.3943T>C (p.Cys1315Arg) c.787+5537T>C (n.787+5537T>C) c.3964T>C (p.Cys1322Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627825T>G | CA370980766 | RP1 | c.3943T>G (p.Cys1315Gly) c.787+5537T>G (n.787+5537T>G) c.3964T>G (p.Cys1322Gly) | |
8 | g.54627825T= | CA1785188903 | RP1 | c.3943T= (p.Cys1315=) c.787+5537T= (n.787+5537T=) c.3964T= (p.Cys1322=) | |
8 | g.54627826G>A | CA370980768 | RP1 | c.3944G>A (p.Cys1315Tyr) c.787+5538G>A (n.787+5538G>A) c.3965G>A (p.Cys1322Tyr) | ClinVar dbSNP |
8 | g.54627826G>C | CA370980769 | RP1 | c.3944G>C (p.Cys1315Ser) c.787+5538G>C (n.787+5538G>C) c.3965G>C (p.Cys1322Ser) | |
8 | g.54627826G>T | CA370980770 | RP1 | c.3944G>T (p.Cys1315Phe) c.787+5538G>T (n.787+5538G>T) c.3965G>T (p.Cys1322Phe) | ClinVar gnomAD v4 |
8 | g.54627827T>A | CA370980771 | RP1 | c.3945T>A (p.Cys1315Ter) c.787+5539T>A (n.787+5539T>A) c.3966T>A (p.Cys1322Ter) | |
8 | g.54627827T>C | CA461099517 | RP1 | c.3945T>C (p.Cys1315=) c.787+5539T>C (n.787+5539T>C) c.3966T>C (p.Cys1322=) | |
8 | g.54627827T>G | CA370980772 | RP1 | c.3945T>G (p.Cys1315Trp) c.787+5539T>G (n.787+5539T>G) c.3966T>G (p.Cys1322Trp) | |
8 | g.54627828G>A | CA370980773 | RP1 | c.3946G>A (p.Ala1316Thr) c.787+5540G>A (n.787+5540G>A) c.3967G>A (p.Ala1323Thr) | ClinVar |
8 | g.54627828G>C | CA370980774 | RP1 | c.3946G>C (p.Ala1316Pro) c.787+5540G>C (n.787+5540G>C) c.3967G>C (p.Ala1323Pro) | |
8 | g.54627828G= | CA1785188904 | RP1 | c.3946G= (p.Ala1316=) c.787+5540G= (n.787+5540G=) c.3967G= (p.Ala1323=) | |
8 | g.54627828G>T | CA4751774 | RP1 | c.3946G>T (p.Ala1316Ser) c.787+5540G>T (n.787+5540G>T) c.3967G>T (p.Ala1323Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627828_54627829delinsTT | CA2573143177 | RP1 | c.3946_3947delinsTT (p.Ala1316Phe) c.787+5540_787+5541delinsTT (n.787+5540_787+5541delinsTT) c.3967_3968delinsTT (p.Ala1323Phe) | ClinVar dbSNP |
8 | g.54627829C>A | CA370980775 | RP1 | c.3947C>A (p.Ala1316Asp) c.787+5541C>A (n.787+5541C>A) c.3968C>A (p.Ala1323Asp) | |
8 | g.54627829C= | CA1785188905 | RP1 | c.3947C= (p.Ala1316=) c.787+5541C= (n.787+5541C=) c.3968C= (p.Ala1323=) | |
8 | g.54627829C>G | CA370980776 | RP1 | c.3947C>G (p.Ala1316Gly) c.787+5541C>G (n.787+5541C>G) c.3968C>G (p.Ala1323Gly) | |
8 | g.54627829C>T | CA4751775 | RP1 | c.3947C>T (p.Ala1316Val) c.787+5541C>T (n.787+5541C>T) c.3968C>T (p.Ala1323Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627830T>A | CA461099522 | RP1 | c.3948T>A (p.Ala1316=) c.787+5542T>A (n.787+5542T>A) c.3969T>A (p.Ala1323=) | |
8 | g.54627830T>C | CA461099523 | RP1 | c.3948T>C (p.Ala1316=) c.787+5542T>C (n.787+5542T>C) c.3969T>C (p.Ala1323=) | |
8 | g.54627830T>G | CA461099520 | RP1 | c.3948T>G (p.Ala1316=) c.787+5542T>G (n.787+5542T>G) c.3969T>G (p.Ala1323=) | |
8 | g.54627831C>A | CA370980779 | RP1 | c.3949C>A (p.Gln1317Lys) c.787+5543C>A (n.787+5543C>A) c.3970C>A (p.Gln1324Lys) | |
8 | g.54627831C>G | CA370980778 | RP1 | c.3949C>G (p.Gln1317Glu) c.787+5543C>G (n.787+5543C>G) c.3970C>G (p.Gln1324Glu) | |
8 | g.54627831C>T | CA370980777 | RP1 | c.3949C>T (p.Gln1317Ter) c.787+5543C>T (n.787+5543C>T) c.3970C>T (p.Gln1324Ter) | ClinVar dbSNP |
8 | g.54627831_54627832delinsCA | CA1785188906 | RP1 | c.3949_3950delinsCA (p.Gln1317=) c.787+5543_787+5544delinsCA (n.787+5543_787+5544delinsCA) c.3970_3971delinsCA (p.Gln1324=) | |
8 | g.54627832A= | CA1785188907 | RP1 | c.3950A= (p.Gln1317=) c.787+5544A= (n.787+5544A=) c.3971A= (p.Gln1324=) | |
8 | g.54627832A>C | CA370980780 | RP1 | c.3950A>C (p.Gln1317Pro) c.787+5544A>C (n.787+5544A>C) c.3971A>C (p.Gln1324Pro) | |
8 | g.54627832A>G | CA4751776 | RP1 | c.3950A>G (p.Gln1317Arg) c.787+5544A>G (n.787+5544A>G) c.3971A>G (p.Gln1324Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627832A>T | CA370980781 | RP1 | c.3950A>T (p.Gln1317Leu) c.787+5544A>T (n.787+5544A>T) c.3971A>T (p.Gln1324Leu) | |
8 | g.54627835del | CA1114000356 | RP1 | c.3953del (p.Lys1318ArgfsTer28) c.787+5547del (n.787+5547del) c.3974del (p.Lys1325ArgfsTer28) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627833A= | CA1785188908 | RP1 | c.3951A= (p.Gln1317=) c.787+5545A= (n.787+5545A=) c.3972A= (p.Gln1324=) | |
8 | g.54627833A>C | CA370980782 | RP1 | c.3951A>C (p.Gln1317His) c.787+5545A>C (n.787+5545A>C) c.3972A>C (p.Gln1324His) | |
8 | g.54627833A>G | CA461099528 | RP1 | c.3951A>G (p.Gln1317=) c.787+5545A>G (n.787+5545A>G) c.3972A>G (p.Gln1324=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627833A>T | CA370980783 | RP1 | c.3951A>T (p.Gln1317His) c.787+5545A>T (n.787+5545A>T) c.3972A>T (p.Gln1324His) | |
8 | g.54627834A>C | CA370980784 | RP1 | c.3952A>C (p.Lys1318Gln) c.787+5546A>C (n.787+5546A>C) c.3973A>C (p.Lys1325Gln) | |
8 | g.54627834A>G | CA370980785 | RP1 | c.3952A>G (p.Lys1318Glu) c.787+5546A>G (n.787+5546A>G) c.3973A>G (p.Lys1325Glu) | |
8 | g.54627834A>T | CA370980786 | RP1 | c.3952A>T (p.Lys1318Ter) c.787+5546A>T (n.787+5546A>T) c.3973A>T (p.Lys1325Ter) | |
8 | g.54627835A>C | CA370980787 | RP1 | c.3953A>C (p.Lys1318Thr) c.787+5547A>C (n.787+5547A>C) c.3974A>C (p.Lys1325Thr) | |
8 | g.54627835A>G | CA370980788 | RP1 | c.3953A>G (p.Lys1318Arg) c.787+5547A>G (n.787+5547A>G) c.3974A>G (p.Lys1325Arg) | |
8 | g.54627835A>T | CA370980789 | RP1 | c.3953A>T (p.Lys1318Met) c.787+5547A>T (n.787+5547A>T) c.3974A>T (p.Lys1325Met) | |
8 | g.54627836G>A | CA461099532 | RP1 | c.3954G>A (p.Lys1318=) c.787+5548G>A (n.787+5548G>A) c.3975G>A (p.Lys1325=) | COSMIC |
8 | g.54627836G>C | CA370980790 | RP1 | c.3954G>C (p.Lys1318Asn) c.787+5548G>C (n.787+5548G>C) c.3975G>C (p.Lys1325Asn) | |
8 | g.54627836G>T | CA370980791 | RP1 | c.3954G>T (p.Lys1318Asn) c.787+5548G>T (n.787+5548G>T) c.3975G>T (p.Lys1325Asn) | |
8 | g.54627837G>A | CA370980793 | RP1 | c.3955G>A (p.Glu1319Lys) c.787+5549G>A (n.787+5549G>A) c.3976G>A (p.Glu1326Lys) | COSMIC |
8 | g.54627837G>C | CA370980794 | RP1 | c.3955G>C (p.Glu1319Gln) c.787+5549G>C (n.787+5549G>C) c.3976G>C (p.Glu1326Gln) | |
8 | g.54627837G>T | CA370980792 | RP1 | c.3955G>T (p.Glu1319Ter) c.787+5549G>T (n.787+5549G>T) c.3976G>T (p.Glu1326Ter) | |
8 | g.54627838A= | CA1785188909 | RP1 | c.3956A= (p.Glu1319=) c.787+5550A= (n.787+5550A=) c.3977A= (p.Glu1326=) | |
8 | g.54627838A>C | CA370980795 | RP1 | c.3956A>C (p.Glu1319Ala) c.787+5550A>C (n.787+5550A>C) c.3977A>C (p.Glu1326Ala) | |
8 | g.54627838A>G | CA4751777 | RP1 | c.3956A>G (p.Glu1319Gly) c.787+5550A>G (n.787+5550A>G) c.3977A>G (p.Glu1326Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627838A>T | CA370980796 | RP1 | c.3956A>T (p.Glu1319Val) c.787+5550A>T (n.787+5550A>T) c.3977A>T (p.Glu1326Val) | |
8 | g.54627839G>A | CA461099536 | RP1 | c.3957G>A (p.Glu1319=) c.787+5551G>A (n.787+5551G>A) c.3978G>A (p.Glu1326=) | dbSNP |
8 | g.54627839G>C | CA370980797 | RP1 | c.3957G>C (p.Glu1319Asp) c.787+5551G>C (n.787+5551G>C) c.3978G>C (p.Glu1326Asp) | |
8 | g.54627839G= | CA1785188910 | RP1 | c.3957G= (p.Glu1319=) c.787+5551G= (n.787+5551G=) c.3978G= (p.Glu1326=) | |
8 | g.54627839G>T | CA370980798 | RP1 | c.3957G>T (p.Glu1319Asp) c.787+5551G>T (n.787+5551G>T) c.3978G>T (p.Glu1326Asp) | |
8 | g.54627840A>C | CA370980799 | RP1 | c.3958A>C (p.Asn1320His) c.787+5552A>C (n.787+5552A>C) c.3979A>C (p.Asn1327His) | |
8 | g.54627840A>G | CA370980800 | RP1 | c.3958A>G (p.Asn1320Asp) c.787+5552A>G (n.787+5552A>G) c.3979A>G (p.Asn1327Asp) | gnomAD v4 |
8 | g.54627840A>T | CA370980801 | RP1 | c.3958A>T (p.Asn1320Tyr) c.787+5552A>T (n.787+5552A>T) c.3979A>T (p.Asn1327Tyr) | |
8 | g.54627841A= | CA1785188911 | RP1 | c.3959A= (p.Asn1320=) c.787+5553A= (n.787+5553A=) c.3980A= (p.Asn1327=) | |
8 | g.54627841A>C | CA370980802 | RP1 | c.3959A>C (p.Asn1320Thr) c.787+5553A>C (n.787+5553A>C) c.3980A>C (p.Asn1327Thr) | |
8 | g.54627841A>G | CA370980803 | RP1 | c.3959A>G (p.Asn1320Ser) c.787+5553A>G (n.787+5553A>G) c.3980A>G (p.Asn1327Ser) | |
8 | g.54627841A>T | CA370980804 | RP1 | c.3959A>T (p.Asn1320Ile) c.787+5553A>T (n.787+5553A>T) c.3980A>T (p.Asn1327Ile) | dbSNP |
8 | g.54627842C>A | CA370980805 | RP1 | c.3960C>A (p.Asn1320Lys) c.787+5554C>A (n.787+5554C>A) c.3981C>A (p.Asn1327Lys) | |
8 | g.54627842C= | CA1785188912 | RP1 | c.3960C= (p.Asn1320=) c.787+5554C= (n.787+5554C=) c.3981C= (p.Asn1327=) | |
8 | g.54627842C>G | CA370980806 | RP1 | c.3960C>G (p.Asn1320Lys) c.787+5554C>G (n.787+5554C>G) c.3981C>G (p.Asn1327Lys) | |
8 | g.54627842C>T | CA461099546 | RP1 | c.3960C>T (p.Asn1320=) c.787+5554C>T (n.787+5554C>T) c.3981C>T (p.Asn1327=) | ClinVar dbSNP gnomAD v4 |
8 | g.54627843C>A | CA370980807 | RP1 | c.3961C>A (p.His1321Asn) c.787+5555C>A (n.787+5555C>A) c.3982C>A (p.His1328Asn) | |
8 | g.54627843C>G | CA370980809 | RP1 | c.3961C>G (p.His1321Asp) c.787+5555C>G (n.787+5555C>G) c.3982C>G (p.His1328Asp) | |
8 | g.54627843C>T | CA370980808 | RP1 | c.3961C>T (p.His1321Tyr) c.787+5555C>T (n.787+5555C>T) c.3982C>T (p.His1328Tyr) | |
8 | g.54627844A>C | CA370980810 | RP1 | c.3962A>C (p.His1321Pro) c.787+5556A>C (n.787+5556A>C) c.3983A>C (p.His1328Pro) | |
8 | g.54627844A>G | CA370980811 | RP1 | c.3962A>G (p.His1321Arg) c.787+5556A>G (n.787+5556A>G) c.3983A>G (p.His1328Arg) | |
8 | g.54627844A>T | CA370980812 | RP1 | c.3962A>T (p.His1321Leu) c.787+5556A>T (n.787+5556A>T) c.3983A>T (p.His1328Leu) | |
8 | g.54627845T>A | CA370980813 | RP1 | c.3963T>A (p.His1321Gln) c.787+5557T>A (n.787+5557T>A) c.3984T>A (p.His1328Gln) | |
8 | g.54627845T>C | CA4751778 | RP1 | c.3963T>C (p.His1321=) c.787+5557T>C (n.787+5557T>C) c.3984T>C (p.His1328=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627845T>G | CA370980814 | RP1 | c.3963T>G (p.His1321Gln) c.787+5557T>G (n.787+5557T>G) c.3984T>G (p.His1328Gln) | |
8 | g.54627845T= | CA1785188913 | RP1 | c.3963T= (p.His1321=) c.787+5557T= (n.787+5557T=) c.3984T= (p.His1328=) | |
8 | g.54627846A>C | CA370980815 | RP1 | c.3964A>C (p.Thr1322Pro) c.787+5558A>C (n.787+5558A>C) c.3985A>C (p.Thr1329Pro) | |
8 | g.54627846A>G | CA370980816 | RP1 | c.3964A>G (p.Thr1322Ala) c.787+5558A>G (n.787+5558A>G) c.3985A>G (p.Thr1329Ala) | COSMIC |
8 | g.54627846A>T | CA370980817 | RP1 | c.3964A>T (p.Thr1322Ser) c.787+5558A>T (n.787+5558A>T) c.3985A>T (p.Thr1329Ser) | |
8 | g.54627847C>A | CA370980819 | RP1 | c.3965C>A (p.Thr1322Asn) c.787+5559C>A (n.787+5559C>A) c.3986C>A (p.Thr1329Asn) | |
8 | g.54627847C= | CA1785188914 | RP1 | c.3965C= (p.Thr1322=) c.787+5559C= (n.787+5559C=) c.3986C= (p.Thr1329=) | |
8 | g.54627847C>G | CA4751779 | RP1 | c.3965C>G (p.Thr1322Ser) c.787+5559C>G (n.787+5559C>G) c.3986C>G (p.Thr1329Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627847C>T | CA370980818 | RP1 | c.3965C>T (p.Thr1322Ile) c.787+5559C>T (n.787+5559C>T) c.3986C>T (p.Thr1329Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627848C>A | CA461099559 | RP1 | c.3966C>A (p.Thr1322=) c.787+5560C>A (n.787+5560C>A) c.3987C>A (p.Thr1329=) | |
8 | g.54627848C= | CA1785188915 | RP1 | c.3966C= (p.Thr1322=) c.787+5560C= (n.787+5560C=) c.3987C= (p.Thr1329=) | |
8 | g.54627848C>G | CA461099560 | RP1 | c.3966C>G (p.Thr1322=) c.787+5560C>G (n.787+5560C>G) c.3987C>G (p.Thr1329=) | |
8 | g.54627848C>T | CA4751780 | RP1 | c.3966C>T (p.Thr1322=) c.787+5560C>T (n.787+5560C>T) c.3987C>T (p.Thr1329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627849T>A | CA370980820 | RP1 | c.3967T>A (p.Tyr1323Asn) c.787+5561T>A (n.787+5561T>A) c.3988T>A (p.Tyr1330Asn) | gnomAD v4 |
8 | g.54627849T>C | CA370980821 | RP1 | c.3967T>C (p.Tyr1323His) c.787+5561T>C (n.787+5561T>C) c.3988T>C (p.Tyr1330His) | |
8 | g.54627849T>G | CA370980822 | RP1 | c.3967T>G (p.Tyr1323Asp) c.787+5561T>G (n.787+5561T>G) c.3988T>G (p.Tyr1330Asp) | gnomAD v4 |
8 | g.54627850A= | CA1785188916 | RP1 | c.3968A= (p.Tyr1323=) c.787+5562A= (n.787+5562A=) c.3989A= (p.Tyr1330=) | |
8 | g.54627850A>C | CA370980823 | RP1 | c.3968A>C (p.Tyr1323Ser) c.787+5562A>C (n.787+5562A>C) c.3989A>C (p.Tyr1330Ser) | |
8 | g.54627850A>G | CA4751781 | RP1 | c.3968A>G (p.Tyr1323Cys) c.787+5562A>G (n.787+5562A>G) c.3989A>G (p.Tyr1330Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627850A>T | CA370980824 | RP1 | c.3968A>T (p.Tyr1323Phe) c.787+5562A>T (n.787+5562A>T) c.3989A>T (p.Tyr1330Phe) | |
8 | g.54627851T>A | CA370980825 | RP1 | c.3969T>A (p.Tyr1323Ter) c.787+5563T>A (n.787+5563T>A) c.3990T>A (p.Tyr1330Ter) | |
8 | g.54627851T>C | CA461099568 | RP1 | c.3969T>C (p.Tyr1323=) c.787+5563T>C (n.787+5563T>C) c.3990T>C (p.Tyr1330=) | gnomAD v4 |
8 | g.54627851T>G | CA370980826 | RP1 | c.3969T>G (p.Tyr1323Ter) c.787+5563T>G (n.787+5563T>G) c.3990T>G (p.Tyr1330Ter) | |
8 | g.54627852G>A | CA370980827 | RP1 | c.3970G>A (p.Glu1324Lys) c.787+5564G>A (n.787+5564G>A) c.3991G>A (p.Glu1331Lys) | gnomAD v4 COSMIC |
8 | g.54627852G>C | CA370980828 | RP1 | c.3970G>C (p.Glu1324Gln) c.787+5564G>C (n.787+5564G>C) c.3991G>C (p.Glu1331Gln) | |
8 | g.54627852G>T | CA370980829 | RP1 | c.3970G>T (p.Glu1324Ter) c.787+5564G>T (n.787+5564G>T) c.3991G>T (p.Glu1331Ter) | |
8 | g.54627853A= | CA1785188917 | RP1 | c.3971A= (p.Glu1324=) c.787+5565A= (n.787+5565A=) c.3992A= (p.Glu1331=) | |
8 | g.54627853A>C | CA370980830 | RP1 | c.3971A>C (p.Glu1324Ala) c.787+5565A>C (n.787+5565A>C) c.3992A>C (p.Glu1331Ala) | gnomAD v4 |
8 | g.54627853A>G | CA370980831 | RP1 | c.3971A>G (p.Glu1324Gly) c.787+5565A>G (n.787+5565A>G) c.3992A>G (p.Glu1331Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627853A>T | CA4751782 | RP1 | c.3971A>T (p.Glu1324Val) c.787+5565A>T (n.787+5565A>T) c.3992A>T (p.Glu1331Val) | dbSNP ExAC gnomAD v4 |
8 | g.54627854G>A | CA461099574 | RP1 | c.3972G>A (p.Glu1324=) c.787+5566G>A (n.787+5566G>A) c.3993G>A (p.Glu1331=) | ClinVar dbSNP gnomAD v4 |
8 | g.54627854G>C | CA370980832 | RP1 | c.3972G>C (p.Glu1324Asp) c.787+5566G>C (n.787+5566G>C) c.3993G>C (p.Glu1331Asp) | |
8 | g.54627854G>T | CA370980833 | RP1 | c.3972G>T (p.Glu1324Asp) c.787+5566G>T (n.787+5566G>T) c.3993G>T (p.Glu1331Asp) | |
8 | g.54627855G>A | CA370980834 | RP1 | c.3973G>A (p.Gly1325Arg) c.787+5567G>A (n.787+5567G>A) c.3994G>A (p.Gly1332Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54627855G>C | CA370980835 | RP1 | c.3973G>C (p.Gly1325Arg) c.787+5567G>C (n.787+5567G>C) c.3994G>C (p.Gly1332Arg) | |
8 | g.54627855G= | CA1785188918 | RP1 | c.3973G= (p.Gly1325=) c.787+5567G= (n.787+5567G=) c.3994G= (p.Gly1332=) | |
8 | g.54627855G>T | CA370980836 | RP1 | c.3973G>T (p.Gly1325Ter) c.787+5567G>T (n.787+5567G>T) c.3994G>T (p.Gly1332Ter) | |
8 | g.54627856G>A | CA370980837 | RP1 | c.3974G>A (p.Gly1325Glu) c.787+5568G>A (n.787+5568G>A) c.3995G>A (p.Gly1332Glu) | dbSNP COSMIC |
8 | g.54627856G>C | CA370980838 | RP1 | c.3974G>C (p.Gly1325Ala) c.787+5568G>C (n.787+5568G>C) c.3995G>C (p.Gly1332Ala) | |
8 | g.54627856G= | CA1785188919 | RP1 | c.3974G= (p.Gly1325=) c.787+5568G= (n.787+5568G=) c.3995G= (p.Gly1332=) | |
8 | g.54627856G>T | CA370980839 | RP1 | c.3974G>T (p.Gly1325Val) c.787+5568G>T (n.787+5568G>T) c.3995G>T (p.Gly1332Val) | dbSNP |
8 | g.54627857A>C | CA461099578 | RP1 | c.3975A>C (p.Gly1325=) c.787+5569A>C (n.787+5569A>C) c.3996A>C (p.Gly1332=) | |
8 | g.54627857A>G | CA461099580 | RP1 | c.3975A>G (p.Gly1325=) c.787+5569A>G (n.787+5569A>G) c.3996A>G (p.Gly1332=) | |
8 | g.54627857A>T | CA461099579 | RP1 | c.3975A>T (p.Gly1325=) c.787+5569A>T (n.787+5569A>T) c.3996A>T (p.Gly1332=) | |
8 | g.54627858G>A | CA370980840 | RP1 | c.3976G>A (p.Ala1326Thr) c.787+5570G>A (n.787+5570G>A) c.3997G>A (p.Ala1333Thr) | gnomAD v4 |
8 | g.54627858G>C | CA4751783 | RP1 | c.3976G>C (p.Ala1326Pro) c.787+5570G>C (n.787+5570G>C) c.3997G>C (p.Ala1333Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627858G= | CA1785188920 | RP1 | c.3976G= (p.Ala1326=) c.787+5570G= (n.787+5570G=) c.3997G= (p.Ala1333=) | |
8 | g.54627858G>T | CA370980841 | RP1 | c.3976G>T (p.Ala1326Ser) c.787+5570G>T (n.787+5570G>T) c.3997G>T (p.Ala1333Ser) | |
8 | g.54627859C>A | CA370980842 | RP1 | c.3977C>A (p.Ala1326Asp) c.787+5571C>A (n.787+5571C>A) c.3998C>A (p.Ala1333Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627859C= | CA1785188921 | RP1 | c.3977C= (p.Ala1326=) c.787+5571C= (n.787+5571C=) c.3998C= (p.Ala1333=) | |
8 | g.54627859C>G | CA370980843 | RP1 | c.3977C>G (p.Ala1326Gly) c.787+5571C>G (n.787+5571C>G) c.3998C>G (p.Ala1333Gly) | |
8 | g.54627859C>T | CA370980844 | RP1 | c.3977C>T (p.Ala1326Val) c.787+5571C>T (n.787+5571C>T) c.3998C>T (p.Ala1333Val) | |
8 | g.54627860T>A | CA461099590 | RP1 | c.3978T>A (p.Ala1326=) c.787+5572T>A (n.787+5572T>A) c.3999T>A (p.Ala1333=) | |
8 | g.54627860T>C | CA461099591 | RP1 | c.3978T>C (p.Ala1326=) c.787+5572T>C (n.787+5572T>C) c.3999T>C (p.Ala1333=) | COSMIC |
8 | g.54627860T>G | CA461099592 | RP1 | c.3978T>G (p.Ala1326=) c.787+5572T>G (n.787+5572T>G) c.3999T>G (p.Ala1333=) | |
8 | g.54627861T>A | CA370980845 | RP1 | c.3979T>A (p.Cys1327Ser) c.787+5573T>A (n.787+5573T>A) c.4000T>A (p.Cys1334Ser) | |
8 | g.54627861T>C | CA370980847 | RP1 | c.3979T>C (p.Cys1327Arg) c.787+5573T>C (n.787+5573T>C) c.4000T>C (p.Cys1334Arg) | |
8 | g.54627861T>G | CA370980846 | RP1 | c.3979T>G (p.Cys1327Gly) c.787+5573T>G (n.787+5573T>G) c.4000T>G (p.Cys1334Gly) | |
8 | g.54627862G>A | CA370980848 | RP1 | c.3980G>A (p.Cys1327Tyr) c.787+5574G>A (n.787+5574G>A) c.4001G>A (p.Cys1334Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627862G>C | CA370980849 | RP1 | c.3980G>C (p.Cys1327Ser) c.787+5574G>C (n.787+5574G>C) c.4001G>C (p.Cys1334Ser) | |
8 | g.54627862G= | CA1785188922 | RP1 | c.3980G= (p.Cys1327=) c.787+5574G= (n.787+5574G=) c.4001G= (p.Cys1334=) | |
8 | g.54627862G>T | CA370980850 | RP1 | c.3980G>T (p.Cys1327Phe) c.787+5574G>T (n.787+5574G>T) c.4001G>T (p.Cys1334Phe) | |
8 | g.54627863C>A | CA370980851 | RP1 | c.3981C>A (p.Cys1327Ter) c.787+5575C>A (n.787+5575C>A) c.4002C>A (p.Cys1334Ter) | |
8 | g.54627863C>G | CA370980852 | RP1 | c.3981C>G (p.Cys1327Trp) c.787+5575C>G (n.787+5575C>G) c.4002C>G (p.Cys1334Trp) | |
8 | g.54627863C>T | CA461099601 | RP1 | c.3981C>T (p.Cys1327=) c.787+5575C>T (n.787+5575C>T) c.4002C>T (p.Cys1334=) | |
8 | g.54627864C>A | CA370980853 | RP1 | c.3982C>A (p.Pro1328Thr) c.787+5576C>A (n.787+5576C>A) c.4003C>A (p.Pro1335Thr) | |
8 | g.54627864C>G | CA370980854 | RP1 | c.3982C>G (p.Pro1328Ala) c.787+5576C>G (n.787+5576C>G) c.4003C>G (p.Pro1335Ala) | gnomAD v4 |
8 | g.54627864C>T | CA370980855 | RP1 | c.3982C>T (p.Pro1328Ser) c.787+5576C>T (n.787+5576C>T) c.4003C>T (p.Pro1335Ser) | gnomAD v4 |
8 | g.54627865C>A | CA370980856 | RP1 | c.3983C>A (p.Pro1328Gln) c.787+5577C>A (n.787+5577C>A) c.4004C>A (p.Pro1335Gln) | COSMIC |
8 | g.54627865C= | CA1785188923 | RP1 | c.3983C= (p.Pro1328=) c.787+5577C= (n.787+5577C=) c.4004C= (p.Pro1335=) | |
8 | g.54627865C>G | CA370980857 | RP1 | c.3983C>G (p.Pro1328Arg) c.787+5577C>G (n.787+5577C>G) c.4004C>G (p.Pro1335Arg) | |
8 | g.54627865C>T | CA370980858 | RP1 | c.3983C>T (p.Pro1328Leu) c.787+5577C>T (n.787+5577C>T) c.4004C>T (p.Pro1335Leu) | dbSNP |
8 | g.54627866A= | CA1785188924 | RP1 | c.3984A= (p.Pro1328=) c.787+5578A= (n.787+5578A=) c.4005A= (p.Pro1335=) | |
8 | g.54627866A>C | CA461099604 | RP1 | c.3984A>C (p.Pro1328=) c.787+5578A>C (n.787+5578A>C) c.4005A>C (p.Pro1335=) | dbSNP |
8 | g.54627866A>G | CA461099605 | RP1 | c.3984A>G (p.Pro1328=) c.787+5578A>G (n.787+5578A>G) c.4005A>G (p.Pro1335=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627866A>T | CA461099606 | RP1 | c.3984A>T (p.Pro1328=) c.787+5578A>T (n.787+5578A>T) c.4005A>T (p.Pro1335=) | |
8 | g.54627867A= | CA1785188925 | RP1 | c.3985A= (p.Ile1329=) c.787+5579A= (n.787+5579A=) c.4006A= (p.Ile1336=) | |
8 | g.54627867A>C | CA370980861 | RP1 | c.3985A>C (p.Ile1329Leu) c.787+5579A>C (n.787+5579A>C) c.4006A>C (p.Ile1336Leu) | |
8 | g.54627867A>G | CA370980860 | RP1 | c.3985A>G (p.Ile1329Val) c.787+5579A>G (n.787+5579A>G) c.4006A>G (p.Ile1336Val) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.54627867A>T | CA370980859 | RP1 | c.3985A>T (p.Ile1329Phe) c.787+5579A>T (n.787+5579A>T) c.4006A>T (p.Ile1336Phe) | |
8 | g.54627868T>A | CA370980862 | RP1 | c.3986T>A (p.Ile1329Asn) c.787+5580T>A (n.787+5580T>A) c.4007T>A (p.Ile1336Asn) | ClinVar dbSNP gnomAD v4 |
8 | g.54627868T>C | CA370980863 | RP1 | c.3986T>C (p.Ile1329Thr) c.787+5580T>C (n.787+5580T>C) c.4007T>C (p.Ile1336Thr) | |
8 | g.54627868T>G | CA370980864 | RP1 | c.3986T>G (p.Ile1329Ser) c.787+5580T>G (n.787+5580T>G) c.4007T>G (p.Ile1336Ser) | |
8 | g.54627868T= | CA1785188926 | RP1 | c.3986T= (p.Ile1329=) c.787+5580T= (n.787+5580T=) c.4007T= (p.Ile1336=) | |
8 | g.54627869T>A | CA461099613 | RP1 | c.3987T>A (p.Ile1329=) c.787+5581T>A (n.787+5581T>A) c.4008T>A (p.Ile1336=) | |
8 | g.54627869T>C | CA461099614 | RP1 | c.3987T>C (p.Ile1329=) c.787+5581T>C (n.787+5581T>C) c.4008T>C (p.Ile1336=) | |
8 | g.54627869T>G | CA370980865 | RP1 | c.3987T>G (p.Ile1329Met) c.787+5581T>G (n.787+5581T>G) c.4008T>G (p.Ile1336Met) | |
8 | g.54627870G>A | CA4751784 | RP1 | c.3988G>A (p.Asp1330Asn) c.787+5582G>A (n.787+5582G>A) c.4009G>A (p.Asp1337Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.54627870G>C | CA370980867 | RP1 | c.3988G>C (p.Asp1330His) c.787+5582G>C (n.787+5582G>C) c.4009G>C (p.Asp1337His) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627870G= | CA1785188927 | RP1 | c.3988G= (p.Asp1330=) c.787+5582G= (n.787+5582G=) c.4009G= (p.Asp1337=) | |
8 | g.54627870G>T | CA370980869 | RP1 | c.3988G>T (p.Asp1330Tyr) c.787+5582G>T (n.787+5582G>T) c.4009G>T (p.Asp1337Tyr) | |
8 | g.54627871A>C | CA370980872 | RP1 | c.3989A>C (p.Asp1330Ala) c.787+5583A>C (n.787+5583A>C) c.4010A>C (p.Asp1337Ala) | |
8 | g.54627871A>G | CA370980873 | RP1 | c.3989A>G (p.Asp1330Gly) c.787+5583A>G (n.787+5583A>G) c.4010A>G (p.Asp1337Gly) | |
8 | g.54627871A>T | CA370980875 | RP1 | c.3989A>T (p.Asp1330Val) c.787+5583A>T (n.787+5583A>T) c.4010A>T (p.Asp1337Val) | |
8 | g.54627872T>A | CA370980878 | RP1 | c.3990T>A (p.Asp1330Glu) c.787+5584T>A (n.787+5584T>A) c.4011T>A (p.Asp1337Glu) | gnomAD v4 |
8 | g.54627872T>C | CA461099619 | RP1 | c.3990T>C (p.Asp1330=) c.787+5584T>C (n.787+5584T>C) c.4011T>C (p.Asp1337=) | |
8 | g.54627872T>G | CA370980880 | RP1 | c.3990T>G (p.Asp1330Glu) c.787+5584T>G (n.787+5584T>G) c.4011T>G (p.Asp1337Glu) | |
8 | g.54627873G>A | CA177181003 | RP1 | c.3991G>A (p.Glu1331Lys) c.787+5585G>A (n.787+5585G>A) c.4012G>A (p.Glu1338Lys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627873G>C | CA370980885 | RP1 | c.3991G>C (p.Glu1331Gln) c.787+5585G>C (n.787+5585G>C) c.4012G>C (p.Glu1338Gln) | |
8 | g.54627873G= | CA1785188928 | RP1 | c.3991G= (p.Glu1331=) c.787+5585G= (n.787+5585G=) c.4012G= (p.Glu1338=) | |
8 | g.54627873G>T | CA370980882 | RP1 | c.3991G>T (p.Glu1331Ter) c.787+5585G>T (n.787+5585G>T) c.4012G>T (p.Glu1338Ter) | |
8 | g.54627874A>C | CA370980892 | RP1 | c.3992A>C (p.Glu1331Ala) c.787+5586A>C (n.787+5586A>C) c.4013A>C (p.Glu1338Ala) | |
8 | g.54627874A>G | CA370980888 | RP1 | c.3992A>G (p.Glu1331Gly) c.787+5586A>G (n.787+5586A>G) c.4013A>G (p.Glu1338Gly) | |
8 | g.54627874A>T | CA370980890 | RP1 | c.3992A>T (p.Glu1331Val) c.787+5586A>T (n.787+5586A>T) c.4013A>T (p.Glu1338Val) | COSMIC |
8 | g.54627875G>A | CA461099622 | RP1 | c.3993G>A (p.Glu1331=) c.787+5587G>A (n.787+5587G>A) c.4014G>A (p.Glu1338=) | |
8 | g.54627875G>C | CA370980895 | RP1 | c.3993G>C (p.Glu1331Asp) c.787+5587G>C (n.787+5587G>C) c.4014G>C (p.Glu1338Asp) | |
8 | g.54627875G>T | CA370980896 | RP1 | c.3993G>T (p.Glu1331Asp) c.787+5587G>T (n.787+5587G>T) c.4014G>T (p.Glu1338Asp) | |
8 | g.54627876A= | CA1785188929 | RP1 | c.3994A= (p.Thr1332=) c.787+5588A= (n.787+5588A=) c.4015A= (p.Thr1339=) | |
8 | g.54627876A>C | CA370980899 | RP1 | c.3994A>C (p.Thr1332Pro) c.787+5588A>C (n.787+5588A>C) c.4015A>C (p.Thr1339Pro) | |
8 | g.54627876A>G | CA370980901 | RP1 | c.3994A>G (p.Thr1332Ala) c.787+5588A>G (n.787+5588A>G) c.4015A>G (p.Thr1339Ala) | |
8 | g.54627876A>T | CA370980903 | RP1 | c.3994A>T (p.Thr1332Ser) c.787+5588A>T (n.787+5588A>T) c.4015A>T (p.Thr1339Ser) | dbSNP gnomAD v4 |
8 | g.54627877C>A | CA370980912 | RP1 | c.3995C>A (p.Thr1332Asn) c.787+5589C>A (n.787+5589C>A) c.4016C>A (p.Thr1339Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
8 | g.54627877C= | CA1785188930 | RP1 | c.3995C= (p.Thr1332=) c.787+5589C= (n.787+5589C=) c.4016C= (p.Thr1339=) | |
8 | g.54627877C>G | CA370980910 | RP1 | c.3995C>G (p.Thr1332Ser) c.787+5589C>G (n.787+5589C>G) c.4016C>G (p.Thr1339Ser) | |
8 | g.54627877C>T | CA4751785 | RP1 | c.3995C>T (p.Thr1332Ile) c.787+5589C>T (n.787+5589C>T) c.4016C>T (p.Thr1339Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627877_54627878delinsTT | CA645560582 | RP1 | c.3995_3996delinsTT (p.Thr1332Ile) c.787+5589_787+5590delinsTT (n.787+5589_787+5590delinsTT) c.4016_4017delinsTT (p.Thr1339Ile) | COSMIC |
8 | g.54627878dup | CA177181005 | RP1 | c.3996dup (p.Tyr1333LeufsTer11) c.787+5590dup (n.787+5590dup) c.4017dup (p.Tyr1340LeufsTer11) | dbSNP gnomAD v4 |
8 | g.54627878C>A | CA461099630 | RP1 | c.3996C>A (p.Thr1332=) c.787+5590C>A (n.787+5590C>A) c.4017C>A (p.Thr1339=) | COSMIC |
8 | g.54627878C>G | CA461099631 | RP1 | c.3996C>G (p.Thr1332=) c.787+5590C>G (n.787+5590C>G) c.4017C>G (p.Thr1339=) | |
8 | g.54627878C>T | CA461099632 | RP1 | c.3996C>T (p.Thr1332=) c.787+5590C>T (n.787+5590C>T) c.4017C>T (p.Thr1339=) | gnomAD v4 |
8 | g.54627879T>A | CA370980915 | RP1 | c.3997T>A (p.Tyr1333Asn) c.787+5591T>A (n.787+5591T>A) c.4018T>A (p.Tyr1340Asn) | |
8 | g.54627879T>C | CA370980917 | RP1 | c.3997T>C (p.Tyr1333His) c.787+5591T>C (n.787+5591T>C) c.4018T>C (p.Tyr1340His) | |
8 | g.54627879T>G | CA370980918 | RP1 | c.3997T>G (p.Tyr1333Asp) c.787+5591T>G (n.787+5591T>G) c.4018T>G (p.Tyr1340Asp) | gnomAD v4 |
8 | g.54627880A>C | CA370980927 | RP1 | c.3998A>C (p.Tyr1333Ser) c.787+5592A>C (n.787+5592A>C) c.4019A>C (p.Tyr1340Ser) | |
8 | g.54627880A>G | CA370980923 | RP1 | c.3998A>G (p.Tyr1333Cys) c.787+5592A>G (n.787+5592A>G) c.4019A>G (p.Tyr1340Cys) | gnomAD v4 |
8 | g.54627880A>T | CA370980925 | RP1 | c.3998A>T (p.Tyr1333Phe) c.787+5592A>T (n.787+5592A>T) c.4019A>T (p.Tyr1340Phe) | |
8 | g.54627881C>A | CA370980929 | RP1 | c.3999C>A (p.Tyr1333Ter) c.787+5593C>A (n.787+5593C>A) c.4020C>A (p.Tyr1340Ter) | dbSNP |
8 | g.54627881C= | CA1785188931 | RP1 | c.3999C= (p.Tyr1333=) c.787+5593C= (n.787+5593C=) c.4020C= (p.Tyr1340=) | |
8 | g.54627881C>G | CA370980931 | RP1 | c.3999C>G (p.Tyr1333Ter) c.787+5593C>G (n.787+5593C>G) c.4020C>G (p.Tyr1340Ter) | |
8 | g.54627881C>T | CA4751786 | RP1 | c.3999C>T (p.Tyr1333=) c.787+5593C>T (n.787+5593C>T) c.4020C>T (p.Tyr1340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627882G>A | CA4751787 | RP1 | c.4000G>A (p.Val1334Ile) c.787+5594G>A (n.787+5594G>A) c.4021G>A (p.Val1341Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627882G>C | CA370980935 | RP1 | c.4000G>C (p.Val1334Leu) c.787+5594G>C (n.787+5594G>C) c.4021G>C (p.Val1341Leu) | |
8 | g.54627882G= | CA1785188932 | RP1 | c.4000G= (p.Val1334=) c.787+5594G= (n.787+5594G=) c.4021G= (p.Val1341=) | |
8 | g.54627882G>T | CA370980938 | RP1 | c.4000G>T (p.Val1334Phe) c.787+5594G>T (n.787+5594G>T) c.4021G>T (p.Val1341Phe) | ClinVar gnomAD v4 |
8 | g.54627883T>A | CA370980941 | RP1 | c.4001T>A (p.Val1334Asp) c.787+5595T>A (n.787+5595T>A) c.4022T>A (p.Val1341Asp) | |
8 | g.54627883T>C | CA370980943 | RP1 | c.4001T>C (p.Val1334Ala) c.787+5595T>C (n.787+5595T>C) c.4022T>C (p.Val1341Ala) | COSMIC |
8 | g.54627883T>G | CA370980945 | RP1 | c.4001T>G (p.Val1334Gly) c.787+5595T>G (n.787+5595T>G) c.4022T>G (p.Val1341Gly) | |
8 | g.54627884T>A | CA461099646 | RP1 | c.4002T>A (p.Val1334=) c.787+5596T>A (n.787+5596T>A) c.4023T>A (p.Val1341=) | |
8 | g.54627884T>C | CA461099647 | RP1 | c.4002T>C (p.Val1334=) c.787+5596T>C (n.787+5596T>C) c.4023T>C (p.Val1341=) | |
8 | g.54627884T>G | CA461099648 | RP1 | c.4002T>G (p.Val1334=) c.787+5596T>G (n.787+5596T>G) c.4023T>G (p.Val1341=) | |
8 | g.54627885C>A | CA370980948 | RP1 | c.4003C>A (p.Pro1335Thr) c.787+5597C>A (n.787+5597C>A) c.4024C>A (p.Pro1342Thr) | |
8 | g.54627885C>G | CA370980950 | RP1 | c.4003C>G (p.Pro1335Ala) c.787+5597C>G (n.787+5597C>G) c.4024C>G (p.Pro1342Ala) | gnomAD v4 |
8 | g.54627885C>T | CA370980953 | RP1 | c.4003C>T (p.Pro1335Ser) c.787+5597C>T (n.787+5597C>T) c.4024C>T (p.Pro1342Ser) | COSMIC |
8 | g.54627886C>A | CA370980956 | RP1 | c.4004C>A (p.Pro1335His) c.787+5598C>A (n.787+5598C>A) c.4025C>A (p.Pro1342His) | COSMIC |
8 | g.54627886C>G | CA370980960 | RP1 | c.4004C>G (p.Pro1335Arg) c.787+5598C>G (n.787+5598C>G) c.4025C>G (p.Pro1342Arg) | |
8 | g.54627886C>T | CA370980958 | RP1 | c.4004C>T (p.Pro1335Leu) c.787+5598C>T (n.787+5598C>T) c.4025C>T (p.Pro1342Leu) | COSMIC |
8 | g.54627887T>A | CA461099651 | RP1 | c.4005T>A (p.Pro1335=) c.787+5599T>A (n.787+5599T>A) c.4026T>A (p.Pro1342=) | |
8 | g.54627887T>C | CA461099652 | RP1 | c.4005T>C (p.Pro1335=) c.787+5599T>C (n.787+5599T>C) c.4026T>C (p.Pro1342=) | gnomAD v4 |
8 | g.54627887T>G | CA461099655 | RP1 | c.4005T>G (p.Pro1335=) c.787+5599T>G (n.787+5599T>G) c.4026T>G (p.Pro1342=) | |
8 | g.54627888G>A | CA370980963 | RP1 | c.4006G>A (p.Val1336Ile) c.787+5600G>A (n.787+5600G>A) c.4027G>A (p.Val1343Ile) | ClinVar |
8 | g.54627888G>C | CA370980966 | RP1 | c.4006G>C (p.Val1336Leu) c.787+5600G>C (n.787+5600G>C) c.4027G>C (p.Val1343Leu) | |
8 | g.54627888G>T | CA370980968 | RP1 | c.4006G>T (p.Val1336Phe) c.787+5600G>T (n.787+5600G>T) c.4027G>T (p.Val1343Phe) | |
8 | g.54627889T>A | CA370980971 | RP1 | c.4007T>A (p.Val1336Asp) c.787+5601T>A (n.787+5601T>A) c.4028T>A (p.Val1343Asp) | |
8 | g.54627889T>C | CA370980972 | RP1 | c.4007T>C (p.Val1336Ala) c.787+5601T>C (n.787+5601T>C) c.4028T>C (p.Val1343Ala) | |
8 | g.54627889T>G | CA370980975 | RP1 | c.4007T>G (p.Val1336Gly) c.787+5601T>G (n.787+5601T>G) c.4028T>G (p.Val1343Gly) | |
8 | g.54627890C>A | CA461099659 | RP1 | c.4008C>A (p.Val1336=) c.787+5602C>A (n.787+5602C>A) c.4029C>A (p.Val1343=) | |
8 | g.54627890C>G | CA461099660 | RP1 | c.4008C>G (p.Val1336=) c.787+5602C>G (n.787+5602C>G) c.4029C>G (p.Val1343=) | dbSNP |
8 | g.54627890C>T | CA461099661 | RP1 | c.4008C>T (p.Val1336=) c.787+5602C>T (n.787+5602C>T) c.4029C>T (p.Val1343=) | |
8 | g.54627891A>C | CA370980977 | RP1 | c.4009A>C (p.Asn1337His) c.787+5603A>C (n.787+5603A>C) c.4030A>C (p.Asn1344His) | |
8 | g.54627891A>G | CA370980979 | RP1 | c.4009A>G (p.Asn1337Asp) c.787+5603A>G (n.787+5603A>G) c.4030A>G (p.Asn1344Asp) | |
8 | g.54627891A>T | CA370980981 | RP1 | c.4009A>T (p.Asn1337Tyr) c.787+5603A>T (n.787+5603A>T) c.4030A>T (p.Asn1344Tyr) | |
8 | g.54627892A>C | CA370980983 | RP1 | c.4010A>C (p.Asn1337Thr) c.787+5604A>C (n.787+5604A>C) c.4031A>C (p.Asn1344Thr) | |
8 | g.54627892A>G | CA370980984 | RP1 | c.4010A>G (p.Asn1337Ser) c.787+5604A>G (n.787+5604A>G) c.4031A>G (p.Asn1344Ser) | gnomAD v4 |
8 | g.54627892A>T | CA370980986 | RP1 | c.4010A>T (p.Asn1337Ile) c.787+5604A>T (n.787+5604A>T) c.4031A>T (p.Asn1344Ile) | |
8 | g.54627893T>A | CA370980991 | RP1 | c.4011T>A (p.Asn1337Lys) c.787+5605T>A (n.787+5605T>A) c.4032T>A (p.Asn1344Lys) | |
8 | g.54627893T>C | CA4751788 | RP1 | c.4011T>C (p.Asn1337=) c.787+5605T>C (n.787+5605T>C) c.4032T>C (p.Asn1344=) | dbSNP ExAC gnomAD v2 COSMIC |
8 | g.54627893T>G | CA370980989 | RP1 | c.4011T>G (p.Asn1337Lys) c.787+5605T>G (n.787+5605T>G) c.4032T>G (p.Asn1344Lys) | |
8 | g.54627893T= | CA1785188933 | RP1 | c.4011T= (p.Asn1337=) c.787+5605T= (n.787+5605T=) c.4032T= (p.Asn1344=) | |
8 | g.54627894G>A | CA370980995 | RP1 | c.4012G>A (p.Val1338Ile) c.787+5606G>A (n.787+5606G>A) c.4033G>A (p.Val1345Ile) | |
8 | g.54627894G>C | CA370980996 | RP1 | c.4012G>C (p.Val1338Leu) c.787+5606G>C (n.787+5606G>C) c.4033G>C (p.Val1345Leu) | |
8 | g.54627894G>T | CA370980999 | RP1 | c.4012G>T (p.Val1338Phe) c.787+5606G>T (n.787+5606G>T) c.4033G>T (p.Val1345Phe) | |
8 | g.54627895T>A | CA370981000 | RP1 | c.4013T>A (p.Val1338Asp) c.787+5607T>A (n.787+5607T>A) c.4034T>A (p.Val1345Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627895T>C | CA370981003 | RP1 | c.4013T>C (p.Val1338Ala) c.787+5607T>C (n.787+5607T>C) c.4034T>C (p.Val1345Ala) | COSMIC |
8 | g.54627895T>G | CA4751789 | RP1 | c.4013T>G (p.Val1338Gly) c.787+5607T>G (n.787+5607T>G) c.4034T>G (p.Val1345Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627895T= | CA1785188934 | RP1 | c.4013T= (p.Val1338=) c.787+5607T= (n.787+5607T=) c.4034T= (p.Val1345=) | |
8 | g.54627896C>A | CA461099675 | RP1 | c.4014C>A (p.Val1338=) c.787+5608C>A (n.787+5608C>A) c.4035C>A (p.Val1345=) | |
8 | g.54627896C>G | CA461099673 | RP1 | c.4014C>G (p.Val1338=) c.787+5608C>G (n.787+5608C>G) c.4035C>G (p.Val1345=) | gnomAD v4 |
8 | g.54627896C>T | CA461099674 | RP1 | c.4014C>T (p.Val1338=) c.787+5608C>T (n.787+5608C>T) c.4035C>T (p.Val1345=) | |
8 | g.54627897T>A | CA370981008 | RP1 | c.4015T>A (p.Cys1339Ser) c.787+5609T>A (n.787+5609T>A) c.4036T>A (p.Cys1346Ser) | |
8 | g.54627897T>C | CA370981011 | RP1 | c.4015T>C (p.Cys1339Arg) c.787+5609T>C (n.787+5609T>C) c.4036T>C (p.Cys1346Arg) | |
8 | g.54627897T>G | CA370981013 | RP1 | c.4015T>G (p.Cys1339Gly) c.787+5609T>G (n.787+5609T>G) c.4036T>G (p.Cys1346Gly) | |
8 | g.54627898G>A | CA370981015 | RP1 | c.4016G>A (p.Cys1339Tyr) c.787+5610G>A (n.787+5610G>A) c.4037G>A (p.Cys1346Tyr) | |
8 | g.54627898G>C | CA370981018 | RP1 | c.4016G>C (p.Cys1339Ser) c.787+5610G>C (n.787+5610G>C) c.4037G>C (p.Cys1346Ser) | |
8 | g.54627898G>T | CA370981020 | RP1 | c.4016G>T (p.Cys1339Phe) c.787+5610G>T (n.787+5610G>T) c.4037G>T (p.Cys1346Phe) | |
8 | g.54627899C>A | CA370981024 | RP1 | c.4017C>A (p.Cys1339Ter) c.787+5611C>A (n.787+5611C>A) c.4038C>A (p.Cys1346Ter) | |
8 | g.54627899C= | CA1785188935 | RP1 | c.4017C= (p.Cys1339=) c.787+5611C= (n.787+5611C=) c.4038C= (p.Cys1346=) | |
8 | g.54627899C>G | CA370981023 | RP1 | c.4017C>G (p.Cys1339Trp) c.787+5611C>G (n.787+5611C>G) c.4038C>G (p.Cys1346Trp) | |
8 | g.54627899C>T | CA461099677 | RP1 | c.4017C>T (p.Cys1339=) c.787+5611C>T (n.787+5611C>T) c.4038C>T (p.Cys1346=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627900A= | CA1785188936 | RP1 | c.4018A= (p.Asn1340=) c.787+5612A= (n.787+5612A=) c.4039A= (p.Asn1347=) | |
8 | g.54627900A>C | CA370981028 | RP1 | c.4018A>C (p.Asn1340His) c.787+5612A>C (n.787+5612A>C) c.4039A>C (p.Asn1347His) | |
8 | g.54627900A>G | CA370981031 | RP1 | c.4018A>G (p.Asn1340Asp) c.787+5612A>G (n.787+5612A>G) c.4039A>G (p.Asn1347Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627900A>T | CA370981030 | RP1 | c.4018A>T (p.Asn1340Tyr) c.787+5612A>T (n.787+5612A>T) c.4039A>T (p.Asn1347Tyr) | gnomAD v4 |
8 | g.54627901A>C | CA370981039 | RP1 | c.4019A>C (p.Asn1340Thr) c.787+5613A>C (n.787+5613A>C) c.4040A>C (p.Asn1347Thr) | |
8 | g.54627901A>G | CA370981041 | RP1 | c.4019A>G (p.Asn1340Ser) c.787+5613A>G (n.787+5613A>G) c.4040A>G (p.Asn1347Ser) | |
8 | g.54627901A>T | CA370981044 | RP1 | c.4019A>T (p.Asn1340Ile) c.787+5613A>T (n.787+5613A>T) c.4040A>T (p.Asn1347Ile) | |
8 | g.54627902T>A | CA370981046 | RP1 | c.4020T>A (p.Asn1340Lys) c.787+5614T>A (n.787+5614T>A) c.4041T>A (p.Asn1347Lys) | |
8 | g.54627902T>C | CA461099777 | RP1 | c.4020T>C (p.Asn1340=) c.787+5614T>C (n.787+5614T>C) c.4041T>C (p.Asn1347=) | |
8 | g.54627902T>G | CA370981048 | RP1 | c.4020T>G (p.Asn1340Lys) c.787+5614T>G (n.787+5614T>G) c.4041T>G (p.Asn1347Lys) | |
8 | g.54627903A>C | CA370981051 | RP1 | c.4021A>C (p.Thr1341Pro) c.787+5615A>C (n.787+5615A>C) c.4042A>C (p.Thr1348Pro) | |
8 | g.54627903A>G | CA370981053 | RP1 | c.4021A>G (p.Thr1341Ala) c.787+5615A>G (n.787+5615A>G) c.4042A>G (p.Thr1348Ala) | gnomAD v4 |
8 | g.54627903A>T | CA370981055 | RP1 | c.4021A>T (p.Thr1341Ser) c.787+5615A>T (n.787+5615A>T) c.4042A>T (p.Thr1348Ser) | |
8 | g.54627904C>A | CA370981058 | RP1 | c.4022C>A (p.Thr1341Asn) c.787+5616C>A (n.787+5616C>A) c.4043C>A (p.Thr1348Asn) | gnomAD v4 |
8 | g.54627904C= | CA1785188937 | RP1 | c.4022C= (p.Thr1341=) c.787+5616C= (n.787+5616C=) c.4043C= (p.Thr1348=) | |
8 | g.54627904C>G | CA177181066 | RP1 | c.4022C>G (p.Thr1341Ser) c.787+5616C>G (n.787+5616C>G) c.4043C>G (p.Thr1348Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627904C>T | CA370981060 | RP1 | c.4022C>T (p.Thr1341Ile) c.787+5616C>T (n.787+5616C>T) c.4043C>T (p.Thr1348Ile) | |
8 | g.54627904_54627905insAGT | CA2780387039 | RP1 | c.4022_4023insAGT (p.Thr1341_Ile1342insVal) c.787+5616_787+5617insAGT (n.787+5616_787+5617insAGT) c.4043_4044insAGT (p.Thr1348_Ile1349insVal) | |
8 | g.54627905C>A | CA461099780 | RP1 | c.4023C>A (p.Thr1341=) c.787+5617C>A (n.787+5617C>A) c.4044C>A (p.Thr1348=) | |
8 | g.54627905C>G | CA461099781 | RP1 | c.4023C>G (p.Thr1341=) c.787+5617C>G (n.787+5617C>G) c.4044C>G (p.Thr1348=) | |
8 | g.54627905C>T | CA461099782 | RP1 | c.4023C>T (p.Thr1341=) c.787+5617C>T (n.787+5617C>T) c.4044C>T (p.Thr1348=) | |
8 | g.54627906A= | CA1785188938 | RP1 | c.4024A= (p.Ile1342=) c.787+5618A= (n.787+5618A=) c.4045A= (p.Ile1349=) | |
8 | g.54627906A>C | CA370981066 | RP1 | c.4024A>C (p.Ile1342Leu) c.787+5618A>C (n.787+5618A>C) c.4045A>C (p.Ile1349Leu) | |
8 | g.54627906A>G | CA370981064 | RP1 | c.4024A>G (p.Ile1342Val) c.787+5618A>G (n.787+5618A>G) c.4045A>G (p.Ile1349Val) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627906A>T | CA370981063 | RP1 | c.4024A>T (p.Ile1342Phe) c.787+5618A>T (n.787+5618A>T) c.4045A>T (p.Ile1349Phe) | |
8 | g.54627907T>A | CA370981069 | RP1 | c.4025T>A (p.Ile1342Asn) c.787+5619T>A (n.787+5619T>A) c.4046T>A (p.Ile1349Asn) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627907T>C | CA4751790 | RP1 | c.4025T>C (p.Ile1342Thr) c.787+5619T>C (n.787+5619T>C) c.4046T>C (p.Ile1349Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627907T>G | CA177181071 | RP1 | c.4025T>G (p.Ile1342Ser) c.787+5619T>G (n.787+5619T>G) c.4046T>G (p.Ile1349Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627907T= | CA1785188939 | RP1 | c.4025T= (p.Ile1342=) c.787+5619T= (n.787+5619T=) c.4046T= (p.Ile1349=) | |
8 | g.54627908T>A | CA461099787 | RP1 | c.4026T>A (p.Ile1342=) c.787+5620T>A (n.787+5620T>A) c.4047T>A (p.Ile1349=) | |
8 | g.54627908T>C | CA461099788 | RP1 | c.4026T>C (p.Ile1342=) c.787+5620T>C (n.787+5620T>C) c.4047T>C (p.Ile1349=) | |
8 | g.54627908T>G | CA370981074 | RP1 | c.4026T>G (p.Ile1342Met) c.787+5620T>G (n.787+5620T>G) c.4047T>G (p.Ile1349Met) | |
8 | g.54627909G>A | CA370981076 | RP1 | c.4027G>A (p.Asp1343Asn) c.787+5621G>A (n.787+5621G>A) c.4048G>A (p.Asp1350Asn) | |
8 | g.54627909G>C | CA370981078 | RP1 | c.4027G>C (p.Asp1343His) c.787+5621G>C (n.787+5621G>C) c.4048G>C (p.Asp1350His) | |
8 | g.54627909G>T | CA370981080 | RP1 | c.4027G>T (p.Asp1343Tyr) c.787+5621G>T (n.787+5621G>T) c.4048G>T (p.Asp1350Tyr) | |
8 | g.54627910A>C | CA370981083 | RP1 | c.4028A>C (p.Asp1343Ala) c.787+5622A>C (n.787+5622A>C) c.4049A>C (p.Asp1350Ala) | |
8 | g.54627910A>G | CA370981085 | RP1 | c.4028A>G (p.Asp1343Gly) c.787+5622A>G (n.787+5622A>G) c.4049A>G (p.Asp1350Gly) | gnomAD v4 |
8 | g.54627910A>T | CA370981086 | RP1 | c.4028A>T (p.Asp1343Val) c.787+5622A>T (n.787+5622A>T) c.4049A>T (p.Asp1350Val) | |
8 | g.54627911C>A | CA370981087 | RP1 | c.4029C>A (p.Asp1343Glu) c.787+5623C>A (n.787+5623C>A) c.4050C>A (p.Asp1350Glu) | |
8 | g.54627911C>G | CA370981089 | RP1 | c.4029C>G (p.Asp1343Glu) c.787+5623C>G (n.787+5623C>G) c.4050C>G (p.Asp1350Glu) | |
8 | g.54627911C>T | CA461099792 | RP1 | c.4029C>T (p.Asp1343=) c.787+5623C>T (n.787+5623C>T) c.4050C>T (p.Asp1350=) | |
8 | g.54627911_54627912delinsCT | CA1785188940 | RP1 | c.4029_4030delinsCT (p.Asp1343=) c.787+5623_787+5624delinsCT (n.787+5623_787+5624delinsCT) c.4050_4051delinsCT (p.Asp1350=) | |
8 | g.54627912T>A | CA370981095 | RP1 | c.4030T>A (p.Phe1344Ile) c.787+5624T>A (n.787+5624T>A) c.4051T>A (p.Phe1351Ile) | |
8 | g.54627912T>C | CA4751791 | RP1 | c.4030T>C (p.Phe1344Leu) c.787+5624T>C (n.787+5624T>C) c.4051T>C (p.Phe1351Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627912T>G | CA370981093 | RP1 | c.4030T>G (p.Phe1344Val) c.787+5624T>G (n.787+5624T>G) c.4051T>G (p.Phe1351Val) | |
8 | g.54627912T= | CA1785188942 | RP1 | c.4030T= (p.Phe1344=) c.787+5624T= (n.787+5624T=) c.4051T= (p.Phe1351=) | |
8 | g.54627916del | CA1785188941 | RP1 | c.4034del (p.Leu1345Ter) c.787+5628del (n.787+5628del) c.4055del (p.Leu1352Ter) | dbSNP gnomAD v4 |