Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
8 | g.54627913T>A | CA370981098 | RP1 | c.4031T>A (p.Phe1344Tyr) c.787+5625T>A (n.787+5625T>A) c.4052T>A (p.Phe1351Tyr) | |
8 | g.54627913T>C | CA370981101 | RP1 | c.4031T>C (p.Phe1344Ser) c.787+5625T>C (n.787+5625T>C) c.4052T>C (p.Phe1351Ser) | gnomAD v4 |
8 | g.54627913T>G | CA370981103 | RP1 | c.4031T>G (p.Phe1344Cys) c.787+5625T>G (n.787+5625T>G) c.4052T>G (p.Phe1351Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627913T= | CA1785188943 | RP1 | c.4031T= (p.Phe1344=) c.787+5625T= (n.787+5625T=) c.4052T= (p.Phe1351=) | |
8 | g.54627913_54627914insACA | CA2780387040 | RP1 | c.4031_4032insACA (p.Phe1344delinsLeuHis) c.787+5625_787+5626insACA (n.787+5625_787+5626insACA) c.4052_4053insACA (p.Phe1351delinsLeuHis) | |
8 | g.54627914T>A | CA370981106 | RP1 | c.4032T>A (p.Phe1344Leu) c.787+5626T>A (n.787+5626T>A) c.4053T>A (p.Phe1351Leu) | |
8 | g.54627914T>C | CA461099802 | RP1 | c.4032T>C (p.Phe1344=) c.787+5626T>C (n.787+5626T>C) c.4053T>C (p.Phe1351=) | gnomAD v4 |
8 | g.54627914T>G | CA370981107 | RP1 | c.4032T>G (p.Phe1344Leu) c.787+5626T>G (n.787+5626T>G) c.4053T>G (p.Phe1351Leu) | |
8 | g.54627915T>A | CA370981110 | RP1 | c.4033T>A (p.Leu1345Ile) c.787+5627T>A (n.787+5627T>A) c.4054T>A (p.Leu1352Ile) | COSMIC |
8 | g.54627915T>C | CA461099804 | RP1 | c.4033T>C (p.Leu1345=) c.787+5627T>C (n.787+5627T>C) c.4054T>C (p.Leu1352=) | |
8 | g.54627915T>G | CA370981112 | RP1 | c.4033T>G (p.Leu1345Val) c.787+5627T>G (n.787+5627T>G) c.4054T>G (p.Leu1352Val) | |
8 | g.54627915_54627918del | CA2780387041 | RP1 | c.4033_4036del (p.Leu1345ThrfsTer17) c.787+5627_787+5630del (n.787+5627_787+5630del) c.4054_4057del (p.Leu1352ThrfsTer17) | |
8 | g.54627916T>A | CA370981115 | RP1 | c.4034T>A (p.Leu1345Ter) c.787+5628T>A (n.787+5628T>A) c.4055T>A (p.Leu1352Ter) | |
8 | g.54627916T>C | CA370981116 | RP1 | c.4034T>C (p.Leu1345Ser) c.787+5628T>C (n.787+5628T>C) c.4055T>C (p.Leu1352Ser) | |
8 | g.54627916T>G | CA370981117 | RP1 | c.4034T>G (p.Leu1345Ter) c.787+5628T>G (n.787+5628T>G) c.4055T>G (p.Leu1352Ter) | |
8 | g.54627917A>C | CA370981118 | RP1 | c.4035A>C (p.Leu1345Phe) c.787+5629A>C (n.787+5629A>C) c.4056A>C (p.Leu1352Phe) | |
8 | g.54627917A>G | CA461099805 | RP1 | c.4035A>G (p.Leu1345=) c.787+5629A>G (n.787+5629A>G) c.4056A>G (p.Leu1352=) | |
8 | g.54627917A>T | CA370981119 | RP1 | c.4035A>T (p.Leu1345Phe) c.787+5629A>T (n.787+5629A>T) c.4056A>T (p.Leu1352Phe) | |
8 | g.54627918A= | CA1785188944 | RP1 | c.4036A= (p.Asn1346=) c.787+5630A= (n.787+5630A=) c.4057A= (p.Asn1353=) | |
8 | g.54627918A>C | CA370981121 | RP1 | c.4036A>C (p.Asn1346His) c.787+5630A>C (n.787+5630A>C) c.4057A>C (p.Asn1353His) | |
8 | g.54627918A>G | CA4751792 | RP1 | c.4036A>G (p.Asn1346Asp) c.787+5630A>G (n.787+5630A>G) c.4057A>G (p.Asn1353Asp) | dbSNP ExAC gnomAD v2 |
8 | g.54627918A>T | CA370981120 | RP1 | c.4036A>T (p.Asn1346Tyr) c.787+5630A>T (n.787+5630A>T) c.4057A>T (p.Asn1353Tyr) | |
8 | g.54627919A>C | CA370981122 | RP1 | c.4037A>C (p.Asn1346Thr) c.787+5631A>C (n.787+5631A>C) c.4058A>C (p.Asn1353Thr) | |
8 | g.54627919A>G | CA370981123 | RP1 | c.4037A>G (p.Asn1346Ser) c.787+5631A>G (n.787+5631A>G) c.4058A>G (p.Asn1353Ser) | |
8 | g.54627919A>T | CA370981124 | RP1 | c.4037A>T (p.Asn1346Ile) c.787+5631A>T (n.787+5631A>T) c.4058A>T (p.Asn1353Ile) | |
8 | g.54627920C>A | CA370981125 | RP1 | c.4038C>A (p.Asn1346Lys) c.787+5632C>A (n.787+5632C>A) c.4059C>A (p.Asn1353Lys) | |
8 | g.54627920C>G | CA370981126 | RP1 | c.4038C>G (p.Asn1346Lys) c.787+5632C>G (n.787+5632C>G) c.4059C>G (p.Asn1353Lys) | |
8 | g.54627920C>T | CA461099809 | RP1 | c.4038C>T (p.Asn1346=) c.787+5632C>T (n.787+5632C>T) c.4059C>T (p.Asn1353=) | |
8 | g.54627921T>A | CA370981128 | RP1 | c.4039T>A (p.Ser1347Thr) c.787+5633T>A (n.787+5633T>A) c.4060T>A (p.Ser1354Thr) | |
8 | g.54627921T>C | CA177181107 | RP1 | c.4039T>C (p.Ser1347Pro) c.787+5633T>C (n.787+5633T>C) c.4060T>C (p.Ser1354Pro) | dbSNP |
8 | g.54627921T>G | CA370981127 | RP1 | c.4039T>G (p.Ser1347Ala) c.787+5633T>G (n.787+5633T>G) c.4060T>G (p.Ser1354Ala) | |
8 | g.54627921T= | CA1785188945 | RP1 | c.4039T= (p.Ser1347=) c.787+5633T= (n.787+5633T=) c.4060T= (p.Ser1354=) | |
8 | g.54627922C>A | CA370981129 | RP1 | c.4040C>A (p.Ser1347Tyr) c.787+5634C>A (n.787+5634C>A) c.4061C>A (p.Ser1354Tyr) | |
8 | g.54627922C= | CA1785188946 | RP1 | c.4040C= (p.Ser1347=) c.787+5634C= (n.787+5634C=) c.4061C= (p.Ser1354=) | |
8 | g.54627922C>G | CA370981130 | RP1 | c.4040C>G (p.Ser1347Cys) c.787+5634C>G (n.787+5634C>G) c.4061C>G (p.Ser1354Cys) | |
8 | g.54627922C>T | CA177181130 | RP1 | c.4040C>T (p.Ser1347Phe) c.787+5634C>T (n.787+5634C>T) c.4061C>T (p.Ser1354Phe) | dbSNP COSMIC |
8 | g.54627922_54627923insA | CA2780387042 | RP1 | c.4040_4041insA (p.Lys1348GlnfsTer7) c.787+5634_787+5635insA (n.787+5634_787+5635insA) c.4061_4062insA (p.Lys1355GlnfsTer7) | |
8 | g.54627923C>A | CA461099811 | RP1 | c.4041C>A (p.Ser1347=) c.787+5635C>A (n.787+5635C>A) c.4062C>A (p.Ser1354=) | |
8 | g.54627923C>G | CA461099812 | RP1 | c.4041C>G (p.Ser1347=) c.787+5635C>G (n.787+5635C>G) c.4062C>G (p.Ser1354=) | |
8 | g.54627923C>T | CA461099814 | RP1 | c.4041C>T (p.Ser1347=) c.787+5635C>T (n.787+5635C>T) c.4062C>T (p.Ser1354=) | dbSNP COSMIC |
8 | g.54627924A>C | CA370981131 | RP1 | c.4042A>C (p.Lys1348Gln) c.787+5636A>C (n.787+5636A>C) c.4063A>C (p.Lys1355Gln) | |
8 | g.54627924A>G | CA370981132 | RP1 | c.4042A>G (p.Lys1348Glu) c.787+5636A>G (n.787+5636A>G) c.4063A>G (p.Lys1355Glu) | gnomAD v4 |
8 | g.54627924A>T | CA370981133 | RP1 | c.4042A>T (p.Lys1348Ter) c.787+5636A>T (n.787+5636A>T) c.4063A>T (p.Lys1355Ter) | |
8 | g.54627925A= | CA1785188947 | RP1 | c.4043A= (p.Lys1348=) c.787+5637A= (n.787+5637A=) c.4064A= (p.Lys1355=) | |
8 | g.54627925A>C | CA370981136 | RP1 | c.4043A>C (p.Lys1348Thr) c.787+5637A>C (n.787+5637A>C) c.4064A>C (p.Lys1355Thr) | |
8 | g.54627925A>G | CA370981135 | RP1 | c.4043A>G (p.Lys1348Arg) c.787+5637A>G (n.787+5637A>G) c.4064A>G (p.Lys1355Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627925A>T | CA370981134 | RP1 | c.4043A>T (p.Lys1348Ile) c.787+5637A>T (n.787+5637A>T) c.4064A>T (p.Lys1355Ile) | |
8 | g.54627926A>C | CA370981137 | RP1 | c.4044A>C (p.Lys1348Asn) c.787+5638A>C (n.787+5638A>C) c.4065A>C (p.Lys1355Asn) | COSMIC |
8 | g.54627926A>G | CA461099818 | RP1 | c.4044A>G (p.Lys1348=) c.787+5638A>G (n.787+5638A>G) c.4065A>G (p.Lys1355=) | gnomAD v4 |
8 | g.54627926A>T | CA370981138 | RP1 | c.4044A>T (p.Lys1348Asn) c.787+5638A>T (n.787+5638A>T) c.4065A>T (p.Lys1355Asn) | |
8 | g.54627927G>A | CA370981139 | RP1 | c.4045G>A (p.Glu1349Lys) c.787+5639G>A (n.787+5639G>A) c.4066G>A (p.Glu1356Lys) | COSMIC |
8 | g.54627927G>C | CA370981141 | RP1 | c.4045G>C (p.Glu1349Gln) c.787+5639G>C (n.787+5639G>C) c.4066G>C (p.Glu1356Gln) | gnomAD v4 |
8 | g.54627927G>T | CA370981140 | RP1 | c.4045G>T (p.Glu1349Ter) c.787+5639G>T (n.787+5639G>T) c.4066G>T (p.Glu1356Ter) | COSMIC |
8 | g.54627928A>C | CA370981142 | RP1 | c.4046A>C (p.Glu1349Ala) c.787+5640A>C (n.787+5640A>C) c.4067A>C (p.Glu1356Ala) | |
8 | g.54627928A>G | CA370981143 | RP1 | c.4046A>G (p.Glu1349Gly) c.787+5640A>G (n.787+5640A>G) c.4067A>G (p.Glu1356Gly) | COSMIC |
8 | g.54627928A>T | CA370981144 | RP1 | c.4046A>T (p.Glu1349Val) c.787+5640A>T (n.787+5640A>T) c.4067A>T (p.Glu1356Val) | |
8 | g.54627928_54627929insC | CA2780387043 | RP1 | c.4046_4047insC (p.Glu1349AspfsTer6) c.787+5640_787+5641insC (n.787+5640_787+5641insC) c.4067_4068insC (p.Glu1356AspfsTer6) | |
8 | g.54627929A>C | CA370981145 | RP1 | c.4047A>C (p.Glu1349Asp) c.787+5641A>C (n.787+5641A>C) c.4068A>C (p.Glu1356Asp) | |
8 | g.54627929A>G | CA461099822 | RP1 | c.4047A>G (p.Glu1349=) c.787+5641A>G (n.787+5641A>G) c.4068A>G (p.Glu1356=) | |
8 | g.54627929A>T | CA370981146 | RP1 | c.4047A>T (p.Glu1349Asp) c.787+5641A>T (n.787+5641A>T) c.4068A>T (p.Glu1356Asp) | |
8 | g.54627929_54627930insCCC | CA2780387045 | RP1 | c.4047_4048insCCC (p.Glu1349_Asn1350insPro) c.787+5641_787+5642insCCC (n.787+5641_787+5642insCCC) c.4068_4069insCCC (p.Glu1356_Asn1357insPro) | |
8 | g.54627929_54627930insCACACCC | CA2780387044 | RP1 | c.4047_4048insCACACCC (p.Asn1350HisfsTer7) c.787+5641_787+5642insCACACCC (n.787+5641_787+5642insCACACCC) c.4068_4069insCACACCC (p.Asn1357HisfsTer7) | |
8 | g.54627930A>C | CA370981147 | RP1 | c.4048A>C (p.Asn1350His) c.787+5642A>C (n.787+5642A>C) c.4069A>C (p.Asn1357His) | |
8 | g.54627930A>G | CA370981148 | RP1 | c.4048A>G (p.Asn1350Asp) c.787+5642A>G (n.787+5642A>G) c.4069A>G (p.Asn1357Asp) | |
8 | g.54627930A>T | CA370981149 | RP1 | c.4048A>T (p.Asn1350Tyr) c.787+5642A>T (n.787+5642A>T) c.4069A>T (p.Asn1357Tyr) | |
8 | g.54627931_54627932insACCCAAACACACCCAA | CA2780387046 | RP1 | c.4049_4050insACCCAAACACACCCAA (p.Asn1350LysfsTer10) c.787+5643_787+5644insACCCAAACACACCCAA (n.787+5643_787+5644insACCCAAACACACCCAA) c.4070_4071insACCCAAACACACCCAA (p.Asn1357LysfsTer10) | |
8 | g.54627931A= | CA1785188948 | RP1 | c.4049A= (p.Asn1350=) c.787+5643A= (n.787+5643A=) c.4070A= (p.Asn1357=) | |
8 | g.54627931A>C | CA370981150 | RP1 | c.4049A>C (p.Asn1350Thr) c.787+5643A>C (n.787+5643A>C) c.4070A>C (p.Asn1357Thr) | |
8 | g.54627931A>G | CA370981151 | RP1 | c.4049A>G (p.Asn1350Ser) c.787+5643A>G (n.787+5643A>G) c.4070A>G (p.Asn1357Ser) | gnomAD v4 |
8 | g.54627931A>T | CA370981152 | RP1 | c.4049A>T (p.Asn1350Ile) c.787+5643A>T (n.787+5643A>T) c.4070A>T (p.Asn1357Ile) | dbSNP |
8 | g.54627932C>A | CA370981153 | RP1 | c.4050C>A (p.Asn1350Lys) c.787+5644C>A (n.787+5644C>A) c.4071C>A (p.Asn1357Lys) | dbSNP |
8 | g.54627932C= | CA1785188949 | RP1 | c.4050C= (p.Asn1350=) c.787+5644C= (n.787+5644C=) c.4071C= (p.Asn1357=) | |
8 | g.54627932C>G | CA370981154 | RP1 | c.4050C>G (p.Asn1350Lys) c.787+5644C>G (n.787+5644C>G) c.4071C>G (p.Asn1357Lys) | gnomAD v4 |
8 | g.54627932C>T | CA461099828 | RP1 | c.4050C>T (p.Asn1350=) c.787+5644C>T (n.787+5644C>T) c.4071C>T (p.Asn1357=) | |
8 | g.54627933A= | CA1785188950 | RP1 | c.4051A= (p.Thr1351=) c.787+5645A= (n.787+5645A=) c.4072A= (p.Thr1358=) | |
8 | g.54627933A>C | CA370981156 | RP1 | c.4051A>C (p.Thr1351Pro) c.787+5645A>C (n.787+5645A>C) c.4072A>C (p.Thr1358Pro) | gnomAD v4 |
8 | g.54627933A>G | CA177181136 | RP1 | c.4051A>G (p.Thr1351Ala) c.787+5645A>G (n.787+5645A>G) c.4072A>G (p.Thr1358Ala) | dbSNP gnomAD v4 |
8 | g.54627933A>T | CA370981155 | RP1 | c.4051A>T (p.Thr1351Ser) c.787+5645A>T (n.787+5645A>T) c.4072A>T (p.Thr1358Ser) | |
8 | g.54627934C>A | CA177181145 | RP1 | c.4052C>A (p.Thr1351Lys) c.787+5646C>A (n.787+5646C>A) c.4073C>A (p.Thr1358Lys) | dbSNP gnomAD v4 |
8 | g.54627934C= | CA1785188951 | RP1 | c.4052C= (p.Thr1351=) c.787+5646C= (n.787+5646C=) c.4073C= (p.Thr1358=) | |
8 | g.54627934C>G | CA370981157 | RP1 | c.4052C>G (p.Thr1351Arg) c.787+5646C>G (n.787+5646C>G) c.4073C>G (p.Thr1358Arg) | |
8 | g.54627934C>T | CA370981158 | RP1 | c.4052C>T (p.Thr1351Ile) c.787+5646C>T (n.787+5646C>T) c.4073C>T (p.Thr1358Ile) | |
8 | g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGT | CA2717039258 | RP1 | c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Tyr1352AlafsTer20) c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGT (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGT) c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGT (p.Tyr1359AlafsTer20) | dbSNP |
8 | g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTA | CA2717039257 | RP1 | c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTA (p.Thr1352AlafsTer9) c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTA (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTA) c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGTA (p.Thr1359AlafsTer9) | dbSNP |
8 | g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG | CA2687301976 | RP1 | c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (p.Tyr1352AlafsTer9) c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG) c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG (p.Tyr1359AlafsTer9) | dbSNP gnomAD v4 |
8 | g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG | CA4751793 | RP1 | c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Tyr1352AlafsTer9) c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG) c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG (p.Tyr1359AlafsTer9) | dbSNP ExAC |
8 | g.54627934_54627935insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG | CA2687301977 | RP1 | c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG (p.Tyr1352AlafsTer9) c.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG (n.787+5646_787+5647insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG) c.4073_4074insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG (p.Tyr1359AlafsTer9) | gnomAD v4 |
8 | g.54627935A>C | CA461099833 | RP1 | c.4053A>C (p.Thr1351=) c.787+5647A>C (n.787+5647A>C) c.4074A>C (p.Thr1358=) | gnomAD v4 |
8 | g.54627935A>G | CA461099832 | RP1 | c.4053A>G (p.Thr1351=) c.787+5647A>G (n.787+5647A>G) c.4074A>G (p.Thr1358=) | |
8 | g.54627935A>T | CA461099831 | RP1 | c.4053A>T (p.Thr1351=) c.787+5647A>T (n.787+5647A>T) c.4074A>T (p.Thr1358=) | |
8 | g.54627938_54627939del | CA2717227662 | RP1 | c.4056_4057del (p.Thr1353Ter) c.787+5650_787+5651del (n.787+5650_787+5651del) c.4077_4078del (p.Thr1360Ter) | dbSNP |
8 | g.54627936T>A | CA370981159 | RP1 | c.4054T>A (p.Tyr1352Asn) c.787+5648T>A (n.787+5648T>A) c.4075T>A (p.Tyr1359Asn) | |
8 | g.54627936T>C | CA370981160 | RP1 | c.4054T>C (p.Tyr1352His) c.787+5648T>C (n.787+5648T>C) c.4075T>C (p.Tyr1359His) | |
8 | g.54627936T>G | CA370981161 | RP1 | c.4054T>G (p.Tyr1352Asp) c.787+5648T>G (n.787+5648T>G) c.4075T>G (p.Tyr1359Asp) | |
8 | g.54627937A= | CA1785188952 | RP1 | c.4055A= (p.Tyr1352=) c.787+5649A= (n.787+5649A=) c.4076A= (p.Tyr1359=) | |
8 | g.54627937A>C | CA370981162 | RP1 | c.4055A>C (p.Tyr1352Ser) c.787+5649A>C (n.787+5649A>C) c.4076A>C (p.Tyr1359Ser) | |
8 | g.54627937A>G | CA370981163 | RP1 | c.4055A>G (p.Tyr1352Cys) c.787+5649A>G (n.787+5649A>G) c.4076A>G (p.Tyr1359Cys) | gnomAD v4 |
8 | g.54627937A>T | CA370981164 | RP1 | c.4055A>T (p.Tyr1352Phe) c.787+5649A>T (n.787+5649A>T) c.4076A>T (p.Tyr1359Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627938T>A | CA370981165 | RP1 | c.4056T>A (p.Tyr1352Ter) c.787+5650T>A (n.787+5650T>A) c.4077T>A (p.Tyr1359Ter) | |
8 | g.54627938T>C | CA461099836 | RP1 | c.4056T>C (p.Tyr1352=) c.787+5650T>C (n.787+5650T>C) c.4077T>C (p.Tyr1359=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.54627938T>G | CA370981166 | RP1 | c.4056T>G (p.Tyr1352Ter) c.787+5650T>G (n.787+5650T>G) c.4077T>G (p.Tyr1359Ter) | |
8 | g.54627938T= | CA1785188953 | RP1 | c.4056T= (p.Tyr1352=) c.787+5650T= (n.787+5650T=) c.4077T= (p.Tyr1359=) | |
8 | g.54627939A>C | CA370981167 | RP1 | c.4057A>C (p.Thr1353Pro) c.787+5651A>C (n.787+5651A>C) c.4078A>C (p.Thr1360Pro) | |
8 | g.54627939A>G | CA370981169 | RP1 | c.4057A>G (p.Thr1353Ala) c.787+5651A>G (n.787+5651A>G) c.4078A>G (p.Thr1360Ala) | |
8 | g.54627939A>T | CA370981168 | RP1 | c.4057A>T (p.Thr1353Ser) c.787+5651A>T (n.787+5651A>T) c.4078A>T (p.Thr1360Ser) | |
8 | g.54627940C>A | CA370981170 | RP1 | c.4058C>A (p.Thr1353Asn) c.787+5652C>A (n.787+5652C>A) c.4079C>A (p.Thr1360Asn) | ClinVar gnomAD v4 |
8 | g.54627940C= | CA1785188954 | RP1 | c.4058C= (p.Thr1353=) c.787+5652C= (n.787+5652C=) c.4079C= (p.Thr1360=) | |
8 | g.54627940C>G | CA370981171 | RP1 | c.4058C>G (p.Thr1353Ser) c.787+5652C>G (n.787+5652C>G) c.4079C>G (p.Thr1360Ser) | |
8 | g.54627940C>T | CA370981172 | RP1 | c.4058C>T (p.Thr1353Ile) c.787+5652C>T (n.787+5652C>T) c.4079C>T (p.Thr1360Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
8 | g.54627941T>A | CA461099839 | RP1 | c.4059T>A (p.Thr1353=) c.787+5653T>A (n.787+5653T>A) c.4080T>A (p.Thr1360=) | |
8 | g.54627941T>C | CA461099840 | RP1 | c.4059T>C (p.Thr1353=) c.787+5653T>C (n.787+5653T>C) c.4080T>C (p.Thr1360=) | gnomAD v4 |
8 | g.54627941T>G | CA461099841 | RP1 | c.4059T>G (p.Thr1353=) c.787+5653T>G (n.787+5653T>G) c.4080T>G (p.Thr1360=) | |
8 | g.54627942G>A | CA370981173 | RP1 | c.4060G>A (p.Asp1354Asn) c.787+5654G>A (n.787+5654G>A) c.4081G>A (p.Asp1361Asn) | COSMIC |
8 | g.54627942G>C | CA370981174 | RP1 | c.4060G>C (p.Asp1354His) c.787+5654G>C (n.787+5654G>C) c.4081G>C (p.Asp1361His) | |
8 | g.54627942G>T | CA370981175 | RP1 | c.4060G>T (p.Asp1354Tyr) c.787+5654G>T (n.787+5654G>T) c.4081G>T (p.Asp1361Tyr) | |
8 | g.54627943A>C | CA370981176 | RP1 | c.4061A>C (p.Asp1354Ala) c.787+5655A>C (n.787+5655A>C) c.4082A>C (p.Asp1361Ala) | |
8 | g.54627943A>G | CA370981177 | RP1 | c.4061A>G (p.Asp1354Gly) c.787+5655A>G (n.787+5655A>G) c.4082A>G (p.Asp1361Gly) | |
8 | g.54627943A>T | CA370981178 | RP1 | c.4061A>T (p.Asp1354Val) c.787+5655A>T (n.787+5655A>T) c.4082A>T (p.Asp1361Val) | |
8 | g.54627944T>A | CA370981179 | RP1 | c.4062T>A (p.Asp1354Glu) c.787+5656T>A (n.787+5656T>A) c.4083T>A (p.Asp1361Glu) | gnomAD v4 |
8 | g.54627944T>C | CA4751794 | RP1 | c.4062T>C (p.Asp1354=) c.787+5656T>C (n.787+5656T>C) c.4083T>C (p.Asp1361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.54627944T>G | CA370981180 | RP1 | c.4062T>G (p.Asp1354Glu) c.787+5656T>G (n.787+5656T>G) c.4083T>G (p.Asp1361Glu) | |
8 | g.54627944T= | CA1785188955 | RP1 | c.4062T= (p.Asp1354=) c.787+5656T= (n.787+5656T=) c.4083T= (p.Asp1361=) | |
8 | g.54627945A= | CA1785188956 | RP1 | c.4063A= (p.Asn1355=) c.787+5657A= (n.787+5657A=) c.4084A= (p.Asn1362=) | |
8 | g.54627945A>C | CA370981181 | RP1 | c.4063A>C (p.Asn1355His) c.787+5657A>C (n.787+5657A>C) c.4084A>C (p.Asn1362His) | |
8 | g.54627945A>G | CA370981183 | RP1 | c.4063A>G (p.Asn1355Asp) c.787+5657A>G (n.787+5657A>G) c.4084A>G (p.Asn1362Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627945A>T | CA370981182 | RP1 | c.4063A>T (p.Asn1355Tyr) c.787+5657A>T (n.787+5657A>T) c.4084A>T (p.Asn1362Tyr) | |
8 | g.54627945_54627946del | CA2780387047 | RP1 | c.4063_4064del (p.Asn1355LeufsTer5) c.787+5657_787+5658del (n.787+5657_787+5658del) c.4084_4085del (p.Asn1362LeufsTer5) | |
8 | g.54627946A>C | CA370981184 | RP1 | c.4064A>C (p.Asn1355Thr) c.787+5658A>C (n.787+5658A>C) c.4085A>C (p.Asn1362Thr) | |
8 | g.54627946A>G | CA370981185 | RP1 | c.4064A>G (p.Asn1355Ser) c.787+5658A>G (n.787+5658A>G) c.4085A>G (p.Asn1362Ser) | |
8 | g.54627946A>T | CA370981186 | RP1 | c.4064A>T (p.Asn1355Ile) c.787+5658A>T (n.787+5658A>T) c.4085A>T (p.Asn1362Ile) | |
8 | g.54627947C>A | CA370981187 | RP1 | c.4065C>A (p.Asn1355Lys) c.787+5659C>A (n.787+5659C>A) c.4086C>A (p.Asn1362Lys) | |
8 | g.54627947C= | CA1785188957 | RP1 | c.4065C= (p.Asn1355=) c.787+5659C= (n.787+5659C=) c.4086C= (p.Asn1362=) | |
8 | g.54627947C>G | CA370981188 | RP1 | c.4065C>G (p.Asn1355Lys) c.787+5659C>G (n.787+5659C>G) c.4086C>G (p.Asn1362Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.54627947C>T | CA461099850 | RP1 | c.4065C>T (p.Asn1355=) c.787+5659C>T (n.787+5659C>T) c.4086C>T (p.Asn1362=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627948T>A | CA370981189 | RP1 | c.4066T>A (p.Leu1356Met) c.787+5660T>A (n.787+5660T>A) c.4087T>A (p.Leu1363Met) | gnomAD v4 |
8 | g.54627948T>C | CA461099851 | RP1 | c.4066T>C (p.Leu1356=) c.787+5660T>C (n.787+5660T>C) c.4087T>C (p.Leu1363=) | |
8 | g.54627948T>G | CA370981190 | RP1 | c.4066T>G (p.Leu1356Val) c.787+5660T>G (n.787+5660T>G) c.4087T>G (p.Leu1363Val) | COSMIC |
8 | g.54627949del | CA2517529811 | RP1 | c.4067del (p.Leu1356TrpfsTer7) c.787+5661del (n.787+5661del) c.4088del (p.Leu1363TrpfsTer7) | |
8 | g.54627949T>A | CA370981191 | RP1 | c.4067T>A (p.Leu1356Ter) c.787+5661T>A (n.787+5661T>A) c.4088T>A (p.Leu1363Ter) | |
8 | g.54627949T>C | CA370981192 | RP1 | c.4067T>C (p.Leu1356Ser) c.787+5661T>C (n.787+5661T>C) c.4088T>C (p.Leu1363Ser) | |
8 | g.54627949T>G | CA370981193 | RP1 | c.4067T>G (p.Leu1356Trp) c.787+5661T>G (n.787+5661T>G) c.4088T>G (p.Leu1363Trp) | |
8 | g.54627949_54627990del | CA2780387048 | RP1 | c.4067_4108del (p.Leu1356Ter) c.787+5661_787+5702del (n.787+5661_787+5702del) c.4088_4129del (p.Leu1363Ter) | |
8 | g.54627950G>A | CA461099853 | RP1 | c.4068G>A (p.Leu1356=) c.787+5662G>A (n.787+5662G>A) c.4089G>A (p.Leu1363=) | |
8 | g.54627950G>C | CA370981195 | RP1 | c.4068G>C (p.Leu1356Phe) c.787+5662G>C (n.787+5662G>C) c.4089G>C (p.Leu1363Phe) | |
8 | g.54627950G>T | CA370981194 | RP1 | c.4068G>T (p.Leu1356Phe) c.787+5662G>T (n.787+5662G>T) c.4089G>T (p.Leu1363Phe) | |
8 | g.54627951G>A | CA370981196 | RP1 | c.4069G>A (p.Asp1357Asn) c.787+5663G>A (n.787+5663G>A) c.4090G>A (p.Asp1364Asn) | COSMIC |
8 | g.54627951G>C | CA370981198 | RP1 | c.4069G>C (p.Asp1357His) c.787+5663G>C (n.787+5663G>C) c.4090G>C (p.Asp1364His) | |
8 | g.54627951G= | CA1785188958 | RP1 | c.4069G= (p.Asp1357=) c.787+5663G= (n.787+5663G=) c.4090G= (p.Asp1364=) | |
8 | g.54627951G>T | CA370981197 | RP1 | c.4069G>T (p.Asp1357Tyr) c.787+5663G>T (n.787+5663G>T) c.4090G>T (p.Asp1364Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.54627951_54627953del | CA2503108626 | RP1 | c.4069_4071del (p.Asp1357del) c.787+5663_787+5665del (n.787+5663_787+5665del) c.4090_4092del (p.Asp1364del) | |
8 | g.54627952A>C | CA370981199 | RP1 | c.4070A>C (p.Asp1357Ala) c.787+5664A>C (n.787+5664A>C) c.4091A>C (p.Asp1364Ala) | |
8 | g.54627952A>G | CA370981200 | RP1 | c.4070A>G (p.Asp1357Gly) c.787+5664A>G (n.787+5664A>G) c.4091A>G (p.Asp1364Gly) | gnomAD v4 |
8 | g.54627952A>T | CA370981201 | RP1 | c.4070A>T (p.Asp1357Val) c.787+5664A>T (n.787+5664A>T) c.4091A>T (p.Asp1364Val) | |
8 | g.54627953T>A | CA370981202 | RP1 | c.4071T>A (p.Asp1357Glu) c.787+5665T>A (n.787+5665T>A) c.4092T>A (p.Asp1364Glu) | |
8 | g.54627953T>C | CA461099857 | RP1 | c.4071T>C (p.Asp1357=) c.787+5665T>C (n.787+5665T>C) c.4092T>C (p.Asp1364=) | |
8 | g.54627953T>G | CA370981203 | RP1 | c.4071T>G (p.Asp1357Glu) c.787+5665T>G (n.787+5665T>G) c.4092T>G (p.Asp1364Glu) | COSMIC |
8 | g.54627953_54627954insAC | CA2780387049 | RP1 | c.4071_4072insAC (p.Ser1358ThrfsTer6) c.787+5665_787+5666insAC (n.787+5665_787+5666insAC) c.4092_4093insAC (p.Ser1365ThrfsTer6) | |
8 | g.54627954T>A | CA370981204 | RP1 | c.4072T>A (p.Ser1358Thr) c.787+5666T>A (n.787+5666T>A) c.4093T>A (p.Ser1365Thr) | |
8 | g.54627954T>C | CA370981205 | RP1 | c.4072T>C (p.Ser1358Pro) c.787+5666T>C (n.787+5666T>C) c.4093T>C (p.Ser1365Pro) | |
8 | g.54627954T>G | CA177181147 | RP1 | c.4072T>G (p.Ser1358Ala) c.787+5666T>G (n.787+5666T>G) c.4093T>G (p.Ser1365Ala) | dbSNP |
8 | g.54627954T= | CA1785188959 | RP1 | c.4072T= (p.Ser1358=) c.787+5666T= (n.787+5666T=) c.4093T= (p.Ser1365=) | |
8 | g.54627955C>A | CA370981206 | RP1 | c.4073C>A (p.Ser1358Ter) c.787+5667C>A (n.787+5667C>A) c.4094C>A (p.Ser1365Ter) | |
8 | g.54627955C= | CA1785188960 | RP1 | c.4073C= (p.Ser1358=) c.787+5667C= (n.787+5667C=) c.4094C= (p.Ser1365=) | |
8 | g.54627955C>G | CA370981207 | RP1 | c.4073C>G (p.Ser1358Ter) c.787+5667C>G (n.787+5667C>G) c.4094C>G (p.Ser1365Ter) | |
8 | g.54627955C>T | CA370981208 | RP1 | c.4073C>T (p.Ser1358Leu) c.787+5667C>T (n.787+5667C>T) c.4094C>T (p.Ser1365Leu) | dbSNP |