| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.21312413_21312414insATGTTCTCATTTGAGTAATAGCAAAATAACTAA | CA960927388 | RPGRIP1 | c.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA (n.1078-20_1078-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA) c.997-20_997-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA (n.997-20_997-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA) c.1045-20_1045-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA (n.1045-20_1045-19insATGTTCTCATTTGAGTAATAGCAAAATAACTAA) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312413A>G | CA2624070053 | RPGRIP1 | c.1078-20A>G (n.1078-20A>G) c.997-20A>G (n.997-20A>G) c.1045-20A>G (n.1045-20A>G) | gnomAD v4 |
| 14 | g.21312414G>C | CA2800816080 | RPGRIP1 | c.1078-19G>C (n.1078-19G>C) c.997-19G>C (n.997-19G>C) c.1045-19G>C (n.1045-19G>C) | |
| 14 | g.21312415G>A | CA960927389 | RPGRIP1 | c.1078-18G>A (n.1078-18G>A) c.997-18G>A (n.997-18G>A) c.1045-18G>A (n.1045-18G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312415G= | CA2122452807 | RPGRIP1 | c.1078-18G= (n.1078-18G=) c.997-18G= (n.997-18G=) c.1045-18G= (n.1045-18G=) | |
| 14 | g.21312415G>T | CA2571676705 | RPGRIP1 | c.1078-18G>T (n.1078-18G>T) c.997-18G>T (n.997-18G>T) c.1045-18G>T (n.1045-18G>T) | |
| 14 | g.21312416G>A | CA2624070054 | RPGRIP1 | c.1078-17G>A (n.1078-17G>A) c.997-17G>A (n.997-17G>A) c.1045-17G>A (n.1045-17G>A) | gnomAD v4 |
| 14 | g.21312416G= | CA2122452808 | RPGRIP1 | c.1078-17G= (n.1078-17G=) c.997-17G= (n.997-17G=) c.1045-17G= (n.1045-17G=) | |
| 14 | g.21312416G>T | CA7088859 | RPGRIP1 | c.1078-17G>T (n.1078-17G>T) c.997-17G>T (n.997-17G>T) c.1045-17G>T (n.1045-17G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312417C>A | CA2624070055 | RPGRIP1 | c.1078-16C>A (n.1078-16C>A) c.997-16C>A (n.997-16C>A) c.1045-16C>A (n.1045-16C>A) | gnomAD v4 |
| 14 | g.21312417C= | CA2122452809 | RPGRIP1 | c.1078-16C= (n.1078-16C=) c.997-16C= (n.997-16C=) c.1045-16C= (n.1045-16C=) | |
| 14 | g.21312417C>T | CA7088860 | RPGRIP1 | c.1078-16C>T (n.1078-16C>T) c.997-16C>T (n.997-16C>T) c.1045-16C>T (n.1045-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312417_21312418insATCGACCTGCTATGCTCTCGACCATGAATACAACTCTAGATGGCAAGACTTTCTTTAAGTCTGCATTAACAACCCCTGAGAGTATTGACCTCTTTGATATGATGAATCAGGCTGTGCAAAATGGCCG | CA2516004566 | RPGRIP1 | c.1078-16_1078-15insATCGACCTGCTATGCTCTCGACCATGAATACAACTCTAGATGGCAAGACTTTCTTTAAGTCTGCATTAACAACCCCTGAGAGTATTGACCTCTTTGATATGATGAATCAGGCTGTGCAAAATGGCCG (n.1078-16_1078-15insATCGACCTGCTATGCTCTCGACCATGAATACAACTCTAGATGGCAAGACTTTCTTTAAGTCTGCATTAACAACCCCTGAGAGTATTGACCTCTTTGATATGATGAATCAGGCTGTGCAAAATGGCCG) c.997-16_997-15insATCGACCTGCTATGCTCTCGACCATGAATACAACTCTAGATGGCAAGACTTTCTTTAAGTCTGCATTAACAACCCCTGAGAGTATTGACCTCTTTGATATGATGAATCAGGCTGTGCAAAATGGCCG (n.997-16_997-15insATCGACCTGCTATGCTCTCGACCATGAATACAACTCTAGATGGCAAGACTTTCTTTAAGTCTGCATTAACAACCCCTGAGAGTATTGACCTCTTTGATATGATGAATCAGGCTGTGCAAAATGGCCG) c.1045-16_1045-15insATCGACCTGCTATGCTCTCGACCATGAATACAACTCTAGATGGCAAGACTTTCTTTAAGTCTGCATTAACAACCCCTGAGAGTATTGACCTCTTTGATATGATGAATCAGGCTGTGCAAAATGGCCG (n.1045-16_1045-15insATCGACCTGCTATGCTCTCGACCATGAATACAACTCTAGATGGCAAGACTTTCTTTAAGTCTGCATTAACAACCCCTGAGAGTATTGACCTCTTTGATATGATGAATCAGGCTGTGCAAAATGGCCG) | |
| 14 | g.21312418T>C | CA2624070056 | RPGRIP1 | c.1078-15T>C (n.1078-15T>C) c.997-15T>C (n.997-15T>C) c.1045-15T>C (n.1045-15T>C) | gnomAD v4 |
| 14 | g.21312419A= | CA2122452810 | RPGRIP1 | c.1078-14A= (n.1078-14A=) c.997-14A= (n.997-14A=) c.1045-14A= (n.1045-14A=) | |
| 14 | g.21312419A>G | CA612371595 | RPGRIP1 | c.1078-14A>G (n.1078-14A>G) c.997-14A>G (n.997-14A>G) c.1045-14A>G (n.1045-14A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312420C>A | CA2624070057 | RPGRIP1 | c.1078-13C>A (n.1078-13C>A) c.997-13C>A (n.997-13C>A) c.1045-13C>A (n.1045-13C>A) | gnomAD v4 |
| 14 | g.21312421T>C | CA2624070058 | RPGRIP1 | c.1078-12T>C (n.1078-12T>C) c.997-12T>C (n.997-12T>C) c.1045-12T>C (n.1045-12T>C) | gnomAD v4 |
| 14 | g.21312422A= | CA2122452812 | RPGRIP1 | c.1078-11A= (n.1078-11A=) c.997-11A= (n.997-11A=) c.1045-11A= (n.1045-11A=) | |
| 14 | g.21312422A>G | CA7088861 | RPGRIP1 | c.1078-11A>G (n.1078-11A>G) c.997-11A>G (n.997-11A>G) c.1045-11A>G (n.1045-11A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312422_21312426delinsATCAC | CA2122452813 | RPGRIP1 | c.1078-11_1078-7delinsATCAC (n.1078-11_1078-7delinsATCAC) c.997-11_997-7delinsATCAC (n.997-11_997-7delinsATCAC) c.1045-11_1045-7delinsATCAC (n.1045-11_1045-7delinsATCAC) | |
| 14 | g.21312425_21312428del | CA7088862 | RPGRIP1 | c.1078-8_1078-5del (n.1078-8_1078-5del) c.997-8_997-5del (n.997-8_997-5del) c.1045-8_1045-5del (n.1045-8_1045-5del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312424C>A | CA7088863 | RPGRIP1 | c.1078-9C>A (n.1078-9C>A) c.997-9C>A (n.997-9C>A) c.1045-9C>A (n.1045-9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312424C= | CA2122452815 | RPGRIP1 | c.1078-9C= (n.1078-9C=) c.997-9C= (n.997-9C=) c.1045-9C= (n.1045-9C=) | |
| 14 | g.21312426C>A | CA2624070059 | RPGRIP1 | c.1078-7C>A (n.1078-7C>A) c.997-7C>A (n.997-7C>A) c.1045-7C>A (n.1045-7C>A) | gnomAD v4 |
| 14 | g.21312426C= | CA2122452817 | RPGRIP1 | c.1078-7C= (n.1078-7C=) c.997-7C= (n.997-7C=) c.1045-7C= (n.1045-7C=) | |
| 14 | g.21312426C>T | CA612371608 | RPGRIP1 | c.1078-7C>T (n.1078-7C>T) c.997-7C>T (n.997-7C>T) c.1045-7C>T (n.1045-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.21312427T>C | CA704074035 | RPGRIP1 | c.1078-6T>C (n.1078-6T>C) c.997-6T>C (n.997-6T>C) c.1045-6T>C (n.1045-6T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312427T= | CA2122452818 | RPGRIP1 | c.1078-6T= (n.1078-6T=) c.997-6T= (n.997-6T=) c.1045-6T= (n.1045-6T=) | |
| 14 | g.21312428C>A | CA2624070060 | RPGRIP1 | c.1078-5C>A (n.1078-5C>A) c.997-5C>A (n.997-5C>A) c.1045-5C>A (n.1045-5C>A) | gnomAD v4 |
| 14 | g.21312428C>G | CA2624070061 | RPGRIP1 | c.1078-5C>G (n.1078-5C>G) c.997-5C>G (n.997-5C>G) c.1045-5C>G (n.1045-5C>G) | ClinVar gnomAD v4 |
| 14 | g.21312429T>G | CA7088864 | RPGRIP1 | c.1078-4T>G (n.1078-4T>G) c.997-4T>G (n.997-4T>G) c.1045-4T>G (n.1045-4T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312429T= | CA2122452820 | RPGRIP1 | c.1078-4T= (n.1078-4T=) c.997-4T= (n.997-4T=) c.1045-4T= (n.1045-4T=) | |
| 14 | g.21312430T>C | CA2624070063 | RPGRIP1 | c.1078-3T>C (n.1078-3T>C) c.997-3T>C (n.997-3T>C) c.1045-3T>C (n.1045-3T>C) | gnomAD v4 |
| 14 | g.21312430T>G | CA2624070062 | RPGRIP1 | c.1078-3T>G (n.1078-3T>G) c.997-3T>G (n.997-3T>G) c.1045-3T>G (n.1045-3T>G) | gnomAD v4 |
| 14 | g.21312431A>C | CA388862669 | RPGRIP1 | c.1078-2A>C (n.1078-2A>C) c.997-2A>C (n.997-2A>C) c.1045-2A>C (n.1045-2A>C) | |
| 14 | g.21312431A>G | CA388862671 | RPGRIP1 | c.1078-2A>G (n.1078-2A>G) c.997-2A>G (n.997-2A>G) c.1045-2A>G (n.1045-2A>G) | |
| 14 | g.21312431A>T | CA388862672 | RPGRIP1 | c.1078-2A>T (n.1078-2A>T) c.997-2A>T (n.997-2A>T) c.1045-2A>T (n.1045-2A>T) | |
| 14 | g.21312432G>A | CA7088865 | RPGRIP1 | c.1078-1G>A (n.1078-1G>A) c.997-1G>A (n.997-1G>A) c.1045-1G>A (n.1045-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312432G>C | CA388862675 | RPGRIP1 | c.1078-1G>C (n.1078-1G>C) c.997-1G>C (n.997-1G>C) c.1045-1G>C (n.1045-1G>C) | |
| 14 | g.21312432G= | CA2122452823 | RPGRIP1 | c.1078-1G= (n.1078-1G=) c.997-1G= (n.997-1G=) c.1045-1G= (n.1045-1G=) | |
| 14 | g.21312432G>T | CA388862677 | RPGRIP1 | c.1078-1G>T (n.1078-1G>T) c.997-1G>T (n.997-1G>T) c.1045-1G>T (n.1045-1G>T) | |
| 14 | g.21312433T>A | CA388862678 | RPGRIP1 | c.1078T>A (p.Phe360Ile) c.997T>A (p.Phe333Ile) c.1045T>A (p.Phe349Ile) | |
| 14 | g.21312433T>C | CA388862680 | RPGRIP1 | c.1078T>C (p.Phe360Leu) c.997T>C (p.Phe333Leu) c.1045T>C (p.Phe349Leu) | |
| 14 | g.21312433T>G | CA388862682 | RPGRIP1 | c.1078T>G (p.Phe360Val) c.997T>G (p.Phe333Val) c.1045T>G (p.Phe349Val) | |
| 14 | g.21312433_21312435dup | CA960927398 | RPGRIP1 | c.1078_1080dup (p.Phe360_Gln361insPhe) c.997_999dup (p.Phe333_Gln334insPhe) c.1045_1047dup (p.Phe349_Gln350insPhe) | dbSNP |
| 14 | g.21312434T>A | CA388862684 | RPGRIP1 | c.1079T>A (p.Phe360Tyr) c.998T>A (p.Phe333Tyr) c.1046T>A (p.Phe349Tyr) | |
| 14 | g.21312434T>C | CA388862687 | RPGRIP1 | c.1079T>C (p.Phe360Ser) c.998T>C (p.Phe333Ser) c.1046T>C (p.Phe349Ser) | |
| 14 | g.21312434T>G | CA388862685 | RPGRIP1 | c.1079T>G (p.Phe360Cys) c.998T>G (p.Phe333Cys) c.1046T>G (p.Phe349Cys) | |
| 14 | g.21312435T>A | CA388862689 | RPGRIP1 | c.1080T>A (p.Phe360Leu) c.999T>A (p.Phe333Leu) c.1047T>A (p.Phe349Leu) | |
| 14 | g.21312435T>C | CA484991084 | RPGRIP1 | c.1080T>C (p.Phe360=) c.999T>C (p.Phe333=) c.1047T>C (p.Phe349=) | |
| 14 | g.21312435T>G | CA388862690 | RPGRIP1 | c.1080T>G (p.Phe360Leu) c.999T>G (p.Phe333Leu) c.1047T>G (p.Phe349Leu) | |
| 14 | g.21312436C>A | CA388862691 | RPGRIP1 | c.1081C>A (p.Gln361Lys) c.1000C>A (p.Gln334Lys) c.1048C>A (p.Gln350Lys) | gnomAD v4 |
| 14 | g.21312436C>G | CA388862692 | RPGRIP1 | c.1081C>G (p.Gln361Glu) c.1000C>G (p.Gln334Glu) c.1048C>G (p.Gln350Glu) | |
| 14 | g.21312436C>T | CA388862694 | RPGRIP1 | c.1081C>T (p.Gln361Ter) c.1000C>T (p.Gln334Ter) c.1048C>T (p.Gln350Ter) | |
| 14 | g.21312437A>C | CA388862696 | RPGRIP1 | c.1082A>C (p.Gln361Pro) c.1001A>C (p.Gln334Pro) c.1049A>C (p.Gln350Pro) | |
| 14 | g.21312437A>G | CA388862698 | RPGRIP1 | c.1082A>G (p.Gln361Arg) c.1001A>G (p.Gln334Arg) c.1049A>G (p.Gln350Arg) | gnomAD v4 |
| 14 | g.21312437A>T | CA388862699 | RPGRIP1 | c.1082A>T (p.Gln361Leu) c.1001A>T (p.Gln334Leu) c.1049A>T (p.Gln350Leu) | |
| 14 | g.21312437_21312447del | CA2624070064 | RPGRIP1 | c.1082_1092del (p.Gln361ArgfsTer12) c.1001_1011del (p.Gln334ArgfsTer12) c.1049_1059del (p.Gln350ArgfsTer12) | gnomAD v4 |
| 14 | g.21312438G>A | CA484991085 | RPGRIP1 | c.1083G>A (p.Gln361=) c.1002G>A (p.Gln334=) c.1050G>A (p.Gln350=) | gnomAD v4 |
| 14 | g.21312438G>C | CA388862701 | RPGRIP1 | c.1083G>C (p.Gln361His) c.1002G>C (p.Gln334His) c.1050G>C (p.Gln350His) | |
| 14 | g.21312438G>T | CA388862703 | RPGRIP1 | c.1083G>T (p.Gln361His) c.1002G>T (p.Gln334His) c.1050G>T (p.Gln350His) | |
| 14 | g.21312438_21312442delinsGGAGA | CA2122452826 | RPGRIP1 | c.1083_1087delinsGGAGA (p.Gln361=) c.1002_1006delinsGGAGA (p.Gln334=) c.1050_1054delinsGGAGA (p.Gln350=) | |
| 14 | g.21312439G>A | CA388862706 | RPGRIP1 | c.1084G>A (p.Glu362Lys) c.1003G>A (p.Glu335Lys) c.1051G>A (p.Glu351Lys) | ClinVar gnomAD v4 |
| 14 | g.21312439G>C | CA388862707 | RPGRIP1 | c.1084G>C (p.Glu362Gln) c.1003G>C (p.Glu335Gln) c.1051G>C (p.Glu351Gln) | |
| 14 | g.21312439G>T | CA388862705 | RPGRIP1 | c.1084G>T (p.Glu362Ter) c.1003G>T (p.Glu335Ter) c.1051G>T (p.Glu351Ter) | gnomAD v4 |
| 14 | g.21312444_21312445dup | CA2580616548 | RPGRIP1 | c.1089_1090dup (p.Val364GlufsTer12) c.1008_1009dup (p.Val337GlufsTer12) c.1056_1057dup (p.Val353GlufsTer12) | ClinVar dbSNP |
| 14 | g.21312442_21312445del | CA7088866 | RPGRIP1 | c.1087_1090del (p.Arg363LeufsTer11) c.1006_1009del (p.Arg336LeufsTer11) c.1054_1057del (p.Arg352LeufsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312440A= | CA2122452828 | RPGRIP1 | c.1085A= (p.Glu362=) c.1004A= (p.Glu335=) c.1052A= (p.Glu351=) | |
| 14 | g.21312440A>C | CA388862708 | RPGRIP1 | c.1085A>C (p.Glu362Ala) c.1004A>C (p.Glu335Ala) c.1052A>C (p.Glu351Ala) | |
| 14 | g.21312440A>G | CA388862710 | RPGRIP1 | c.1085A>G (p.Glu362Gly) c.1004A>G (p.Glu335Gly) c.1052A>G (p.Glu351Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312440A>T | CA388862712 | RPGRIP1 | c.1085A>T (p.Glu362Val) c.1004A>T (p.Glu335Val) c.1052A>T (p.Glu351Val) | |
| 14 | g.21312441G>A | CA484991091 | RPGRIP1 | c.1086G>A (p.Glu362=) c.1005G>A (p.Glu335=) c.1053G>A (p.Glu351=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312441G>C | CA388862714 | RPGRIP1 | c.1086G>C (p.Glu362Asp) c.1005G>C (p.Glu335Asp) c.1053G>C (p.Glu351Asp) | |
| 14 | g.21312441G= | CA2122452829 | RPGRIP1 | c.1086G= (p.Glu362=) c.1005G= (p.Glu335=) c.1053G= (p.Glu351=) | |
| 14 | g.21312441G>T | CA388862715 | RPGRIP1 | c.1086G>T (p.Glu362Asp) c.1005G>T (p.Glu335Asp) c.1053G>T (p.Glu351Asp) | |
| 14 | g.21312442A= | CA2122452831 | RPGRIP1 | c.1087A= (p.Arg363=) c.1006A= (p.Arg336=) c.1054A= (p.Arg352=) | |
| 14 | g.21312442A>C | CA257501591 | RPGRIP1 | c.1087A>C (p.Arg363=) c.1006A>C (p.Arg336=) c.1054A>C (p.Arg352=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312442A>G | CA388862717 | RPGRIP1 | c.1087A>G (p.Arg363Gly) c.1006A>G (p.Arg336Gly) c.1054A>G (p.Arg352Gly) | |
| 14 | g.21312442A>T | CA388862719 | RPGRIP1 | c.1087A>T (p.Arg363Ter) c.1006A>T (p.Arg336Ter) c.1054A>T (p.Arg352Ter) | |
| 14 | g.21312443G>A | CA388862721 | RPGRIP1 | c.1088G>A (p.Arg363Lys) c.1007G>A (p.Arg336Lys) c.1055G>A (p.Arg352Lys) | |
| 14 | g.21312443G>C | CA388862722 | RPGRIP1 | c.1088G>C (p.Arg363Thr) c.1007G>C (p.Arg336Thr) c.1055G>C (p.Arg352Thr) | gnomAD v4 |
| 14 | g.21312443G>T | CA388862724 | RPGRIP1 | c.1088G>T (p.Arg363Ile) c.1007G>T (p.Arg336Ile) c.1055G>T (p.Arg352Ile) | gnomAD v4 |
| 14 | g.21312444A>C | CA388862726 | RPGRIP1 | c.1089A>C (p.Arg363Ser) c.1008A>C (p.Arg336Ser) c.1056A>C (p.Arg352Ser) | |
| 14 | g.21312444A>G | CA484991095 | RPGRIP1 | c.1089A>G (p.Arg363=) c.1008A>G (p.Arg336=) c.1056A>G (p.Arg352=) | gnomAD v4 |
| 14 | g.21312444A>T | CA388862727 | RPGRIP1 | c.1089A>T (p.Arg363Ser) c.1008A>T (p.Arg336Ser) c.1056A>T (p.Arg352Ser) | |
| 14 | g.21312445G>A | CA388862733 | RPGRIP1 | c.1090G>A (p.Val364Ile) c.1009G>A (p.Val337Ile) c.1057G>A (p.Val353Ile) | |
| 14 | g.21312445G>C | CA388862731 | RPGRIP1 | c.1090G>C (p.Val364Leu) c.1009G>C (p.Val337Leu) c.1057G>C (p.Val353Leu) | |
| 14 | g.21312445G>T | CA388862729 | RPGRIP1 | c.1090G>T (p.Val364Phe) c.1009G>T (p.Val337Phe) c.1057G>T (p.Val353Phe) | |
| 14 | g.21312446T>A | CA7088867 | RPGRIP1 | c.1091T>A (p.Val364Asp) c.1010T>A (p.Val337Asp) c.1058T>A (p.Val353Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312446T>C | CA388862735 | RPGRIP1 | c.1091T>C (p.Val364Ala) c.1010T>C (p.Val337Ala) c.1058T>C (p.Val353Ala) | |
| 14 | g.21312446T>G | CA388862737 | RPGRIP1 | c.1091T>G (p.Val364Gly) c.1010T>G (p.Val337Gly) c.1058T>G (p.Val353Gly) | |
| 14 | g.21312446T= | CA2122452833 | RPGRIP1 | c.1091T= (p.Val364=) c.1010T= (p.Val337=) c.1058T= (p.Val353=) | |
| 14 | g.21312447T>A | CA484991101 | RPGRIP1 | c.1092T>A (p.Val364=) c.1011T>A (p.Val337=) c.1059T>A (p.Val353=) | |
| 14 | g.21312447T>C | CA484991102 | RPGRIP1 | c.1092T>C (p.Val364=) c.1011T>C (p.Val337=) c.1059T>C (p.Val353=) | ClinVar dbSNP |
| 14 | g.21312447T>G | CA484991104 | RPGRIP1 | c.1092T>G (p.Val364=) c.1011T>G (p.Val337=) c.1059T>G (p.Val353=) | |
| 14 | g.21312448G>A | CA388862739 | RPGRIP1 | c.1093G>A (p.Glu365Lys) c.1012G>A (p.Glu338Lys) c.1060G>A (p.Glu354Lys) | gnomAD v4 |
| 14 | g.21312448G>C | CA388862740 | RPGRIP1 | c.1093G>C (p.Glu365Gln) c.1012G>C (p.Glu338Gln) c.1060G>C (p.Glu354Gln) | |
| 14 | g.21312448G>T | CA388862742 | RPGRIP1 | c.1093G>T (p.Glu365Ter) c.1012G>T (p.Glu338Ter) c.1060G>T (p.Glu354Ter) | |
| 14 | g.21312449A>C | CA388862744 | RPGRIP1 | c.1094A>C (p.Glu365Ala) c.1013A>C (p.Glu338Ala) c.1061A>C (p.Glu354Ala) | |
| 14 | g.21312449A>G | CA388862745 | RPGRIP1 | c.1094A>G (p.Glu365Gly) c.1013A>G (p.Glu338Gly) c.1061A>G (p.Glu354Gly) | |
| 14 | g.21312449A>T | CA388862747 | RPGRIP1 | c.1094A>T (p.Glu365Val) c.1013A>T (p.Glu338Val) c.1061A>T (p.Glu354Val) | |
| 14 | g.21312451_21312471del | CA2624070065 | RPGRIP1 | c.1096_1116del (p.Asp366_Lys372del) c.1015_1035del (p.Asp339_Lys345del) c.1063_1083del (p.Asp355_Lys361del) | gnomAD v4 |
| 14 | g.21312450A>C | CA388862748 | RPGRIP1 | c.1095A>C (p.Glu365Asp) c.1014A>C (p.Glu338Asp) c.1062A>C (p.Glu354Asp) | |
| 14 | g.21312450A>G | CA484991109 | RPGRIP1 | c.1095A>G (p.Glu365=) c.1014A>G (p.Glu338=) c.1062A>G (p.Glu354=) | |
| 14 | g.21312450A>T | CA388862750 | RPGRIP1 | c.1095A>T (p.Glu365Asp) c.1014A>T (p.Glu338Asp) c.1062A>T (p.Glu354Asp) | |
| 14 | g.21312451G>A | CA388862752 | RPGRIP1 | c.1096G>A (p.Asp366Asn) c.1015G>A (p.Asp339Asn) c.1063G>A (p.Asp355Asn) | |
| 14 | g.21312451G>C | CA388862754 | RPGRIP1 | c.1096G>C (p.Asp366His) c.1015G>C (p.Asp339His) c.1063G>C (p.Asp355His) | |
| 14 | g.21312451G>T | CA388862755 | RPGRIP1 | c.1096G>T (p.Asp366Tyr) c.1015G>T (p.Asp339Tyr) c.1063G>T (p.Asp355Tyr) | COSMIC |
| 14 | g.21312452A>C | CA388862759 | RPGRIP1 | c.1097A>C (p.Asp366Ala) c.1016A>C (p.Asp339Ala) c.1064A>C (p.Asp355Ala) | |
| 14 | g.21312452A>G | CA388862760 | RPGRIP1 | c.1097A>G (p.Asp366Gly) c.1016A>G (p.Asp339Gly) c.1064A>G (p.Asp355Gly) | |
| 14 | g.21312452A>T | CA388862757 | RPGRIP1 | c.1097A>T (p.Asp366Val) c.1016A>T (p.Asp339Val) c.1064A>T (p.Asp355Val) | |
| 14 | g.21312453T>A | CA388862762 | RPGRIP1 | c.1098T>A (p.Asp366Glu) c.1017T>A (p.Asp339Glu) c.1065T>A (p.Asp355Glu) | |
| 14 | g.21312453T>C | CA484991114 | RPGRIP1 | c.1098T>C (p.Asp366=) c.1017T>C (p.Asp339=) c.1065T>C (p.Asp355=) | |
| 14 | g.21312453T>G | CA388862764 | RPGRIP1 | c.1098T>G (p.Asp366Glu) c.1017T>G (p.Asp339Glu) c.1065T>G (p.Asp355Glu) | |
| 14 | g.21312454T>A | CA388862765 | RPGRIP1 | c.1099T>A (p.Leu367Met) c.1018T>A (p.Leu340Met) c.1066T>A (p.Leu356Met) | |
| 14 | g.21312454T>C | CA257501593 | RPGRIP1 | c.1099T>C (p.Leu367=) c.1018T>C (p.Leu340=) c.1066T>C (p.Leu356=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312454T>G | CA7088868 | RPGRIP1 | c.1099T>G (p.Leu367Val) c.1018T>G (p.Leu340Val) c.1066T>G (p.Leu356Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312454T= | CA2122452835 | RPGRIP1 | c.1099T= (p.Leu367=) c.1018T= (p.Leu340=) c.1066T= (p.Leu356=) | |
| 14 | g.21312455T>A | CA388862768 | RPGRIP1 | c.1100T>A (p.Leu367Ter) c.1019T>A (p.Leu340Ter) c.1067T>A (p.Leu356Ter) | |
| 14 | g.21312455T>C | CA388862770 | RPGRIP1 | c.1100T>C (p.Leu367Ser) c.1019T>C (p.Leu340Ser) c.1067T>C (p.Leu356Ser) | |
| 14 | g.21312455T>G | CA388862771 | RPGRIP1 | c.1100T>G (p.Leu367Trp) c.1019T>G (p.Leu340Trp) c.1067T>G (p.Leu356Trp) | |
| 14 | g.21312456G>A | CA484991121 | RPGRIP1 | c.1101G>A (p.Leu367=) c.1020G>A (p.Leu340=) c.1068G>A (p.Leu356=) | |
| 14 | g.21312456G>C | CA388862773 | RPGRIP1 | c.1101G>C (p.Leu367Phe) c.1020G>C (p.Leu340Phe) c.1068G>C (p.Leu356Phe) | |
| 14 | g.21312456G>T | CA388862774 | RPGRIP1 | c.1101G>T (p.Leu367Phe) c.1020G>T (p.Leu340Phe) c.1068G>T (p.Leu356Phe) | |
| 14 | g.21312457G>A | CA388862776 | RPGRIP1 | c.1102G>A (p.Glu368Lys) c.1021G>A (p.Glu341Lys) c.1069G>A (p.Glu357Lys) | |
| 14 | g.21312457G>C | CA388862777 | RPGRIP1 | c.1102G>C (p.Glu368Gln) c.1021G>C (p.Glu341Gln) c.1069G>C (p.Glu357Gln) | |
| 14 | g.21312457G>T | CA388862778 | RPGRIP1 | c.1102G>T (p.Glu368Ter) c.1021G>T (p.Glu341Ter) c.1069G>T (p.Glu357Ter) | |
| 14 | g.21312457_21312458delinsGA | CA2122452838 | RPGRIP1 | c.1102_1103delinsGA (p.Glu368=) c.1021_1022delinsGA (p.Glu341=) c.1069_1070delinsGA (p.Glu357=) | |
| 14 | g.21312458A= | CA2122452842 | RPGRIP1 | c.1103A= (p.Glu368=) c.1022A= (p.Glu341=) c.1070A= (p.Glu357=) | |
| 14 | g.21312458A>C | CA388862783 | RPGRIP1 | c.1103A>C (p.Glu368Ala) c.1022A>C (p.Glu341Ala) c.1070A>C (p.Glu357Ala) | |
| 14 | g.21312458A>G | CA7088869 | RPGRIP1 | c.1103A>G (p.Glu368Gly) c.1022A>G (p.Glu341Gly) c.1070A>G (p.Glu357Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312458A>T | CA388862782 | RPGRIP1 | c.1103A>T (p.Glu368Val) c.1022A>T (p.Glu341Val) c.1070A>T (p.Glu357Val) | |
| 14 | g.21312462del | CA227902 | RPGRIP1 | c.1107del (p.Glu370AsnfsTer5) c.1026del (p.Glu343AsnfsTer5) c.1074del (p.Glu359AsnfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.21312459A>C | CA388862785 | RPGRIP1 | c.1104A>C (p.Glu368Asp) c.1023A>C (p.Glu341Asp) c.1071A>C (p.Glu357Asp) | |
| 14 | g.21312459A>G | CA484991127 | RPGRIP1 | c.1104A>G (p.Glu368=) c.1023A>G (p.Glu341=) c.1071A>G (p.Glu357=) | |
| 14 | g.21312459A>T | CA388862787 | RPGRIP1 | c.1104A>T (p.Glu368Asp) c.1023A>T (p.Glu341Asp) c.1071A>T (p.Glu357Asp) | |
| 14 | g.21312460A= | CA2122452843 | RPGRIP1 | c.1105A= (p.Lys369=) c.1024A= (p.Lys342=) c.1072A= (p.Lys358=) | |
| 14 | g.21312460A>C | CA388862789 | RPGRIP1 | c.1105A>C (p.Lys369Gln) c.1024A>C (p.Lys342Gln) c.1072A>C (p.Lys358Gln) | |
| 14 | g.21312460A>G | CA7088870 | RPGRIP1 | c.1105A>G (p.Lys369Glu) c.1024A>G (p.Lys342Glu) c.1072A>G (p.Lys358Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312460A>T | CA388862791 | RPGRIP1 | c.1105A>T (p.Lys369Ter) c.1024A>T (p.Lys342Ter) c.1072A>T (p.Lys358Ter) | |
| 14 | g.21312461A>C | CA388862793 | RPGRIP1 | c.1106A>C (p.Lys369Thr) c.1025A>C (p.Lys342Thr) c.1073A>C (p.Lys358Thr) | |
| 14 | g.21312461A>G | CA388862794 | RPGRIP1 | c.1106A>G (p.Lys369Arg) c.1025A>G (p.Lys342Arg) c.1073A>G (p.Lys358Arg) | |
| 14 | g.21312461A>T | CA388862796 | RPGRIP1 | c.1106A>T (p.Lys369Ile) c.1025A>T (p.Lys342Ile) c.1073A>T (p.Lys358Ile) | |
| 14 | g.21312462A>C | CA388862797 | RPGRIP1 | c.1107A>C (p.Lys369Asn) c.1026A>C (p.Lys342Asn) c.1074A>C (p.Lys358Asn) | |
| 14 | g.21312462A>G | CA484991132 | RPGRIP1 | c.1107A>G (p.Lys369=) c.1026A>G (p.Lys342=) c.1074A>G (p.Lys358=) | ClinVar |
| 14 | g.21312462A>T | CA388862799 | RPGRIP1 | c.1107A>T (p.Lys369Asn) c.1026A>T (p.Lys342Asn) c.1074A>T (p.Lys358Asn) | |
| 14 | g.21312463G>A | CA388862803 | RPGRIP1 | c.1108G>A (p.Glu370Lys) c.1027G>A (p.Glu343Lys) c.1075G>A (p.Glu359Lys) | gnomAD v4 |
| 14 | g.21312463G>C | CA7088871 | RPGRIP1 | c.1108G>C (p.Glu370Gln) c.1027G>C (p.Glu343Gln) c.1075G>C (p.Glu359Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312463G= | CA2122452844 | RPGRIP1 | c.1108G= (p.Glu370=) c.1027G= (p.Glu343=) c.1075G= (p.Glu359=) | |
| 14 | g.21312463G>T | CA388862801 | RPGRIP1 | c.1108G>T (p.Glu370Ter) c.1027G>T (p.Glu343Ter) c.1075G>T (p.Glu359Ter) | gnomAD v4 |
| 14 | g.21312464A>C | CA388862804 | RPGRIP1 | c.1109A>C (p.Glu370Ala) c.1028A>C (p.Glu343Ala) c.1076A>C (p.Glu359Ala) | |
| 14 | g.21312464A>G | CA388862807 | RPGRIP1 | c.1109A>G (p.Glu370Gly) c.1028A>G (p.Glu343Gly) c.1076A>G (p.Glu359Gly) | |
| 14 | g.21312464A>T | CA388862806 | RPGRIP1 | c.1109A>T (p.Glu370Val) c.1028A>T (p.Glu343Val) c.1076A>T (p.Glu359Val) | |
| 14 | g.21312465A= | CA2122452846 | RPGRIP1 | c.1110A= (p.Glu370=) c.1029A= (p.Glu343=) c.1077A= (p.Glu359=) | |
| 14 | g.21312465A>C | CA388862809 | RPGRIP1 | c.1110A>C (p.Glu370Asp) c.1029A>C (p.Glu343Asp) c.1077A>C (p.Glu359Asp) | |
| 14 | g.21312465A>G | CA484991139 | RPGRIP1 | c.1110A>G (p.Glu370=) c.1029A>G (p.Glu343=) c.1077A>G (p.Glu359=) | dbSNP gnomAD v4 |
| 14 | g.21312465A>T | CA388862810 | RPGRIP1 | c.1110A>T (p.Glu370Asp) c.1029A>T (p.Glu343Asp) c.1077A>T (p.Glu359Asp) | |
| 14 | g.21312466C>A | CA484991141 | RPGRIP1 | c.1111C>A (p.Arg371=) c.1030C>A (p.Arg344=) c.1078C>A (p.Arg360=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.21312466C= | CA2122452848 | RPGRIP1 | c.1111C= (p.Arg371=) c.1030C= (p.Arg344=) c.1078C= (p.Arg360=) | |
| 14 | g.21312466C>G | CA388862811 | RPGRIP1 | c.1111C>G (p.Arg371Gly) c.1030C>G (p.Arg344Gly) c.1078C>G (p.Arg360Gly) | gnomAD v4 |
| 14 | g.21312466C>T | CA7088872 | RPGRIP1 | c.1111C>T (p.Arg371Ter) c.1030C>T (p.Arg344Ter) c.1078C>T (p.Arg360Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312467G>A | CA7088873 | RPGRIP1 | c.1112G>A (p.Arg371Gln) c.1031G>A (p.Arg344Gln) c.1079G>A (p.Arg360Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.21312467G>C | CA388862815 | RPGRIP1 | c.1112G>C (p.Arg371Pro) c.1031G>C (p.Arg344Pro) c.1079G>C (p.Arg360Pro) | gnomAD v4 |
| 14 | g.21312467G= | CA2122452852 | RPGRIP1 | c.1112G= (p.Arg371=) c.1031G= (p.Arg344=) c.1079G= (p.Arg360=) | |
| 14 | g.21312467G>T | CA388862816 | RPGRIP1 | c.1112G>T (p.Arg371Leu) c.1031G>T (p.Arg344Leu) c.1079G>T (p.Arg360Leu) | gnomAD v4 COSMIC |
| 14 | g.21312467_21312468delinsGA | CA2122452851 | RPGRIP1 | c.1112_1113delinsGA (p.Arg371=) c.1031_1032delinsGA (p.Arg344=) c.1079_1080delinsGA (p.Arg360=) | |
| 14 | g.21312468A= | CA2122452859 | RPGRIP1 | c.1113A= (p.Arg371=) c.1032A= (p.Arg344=) c.1080A= (p.Arg360=) | |
| 14 | g.21312468A>C | CA484991145 | RPGRIP1 | c.1113A>C (p.Arg371=) c.1032A>C (p.Arg344=) c.1080A>C (p.Arg360=) | |
| 14 | g.21312468A>G | CA7088875 | RPGRIP1 | c.1113A>G (p.Arg371=) c.1032A>G (p.Arg344=) c.1080A>G (p.Arg360=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312468A>T | CA484991147 | RPGRIP1 | c.1113A>T (p.Arg371=) c.1032A>T (p.Arg344=) c.1080A>T (p.Arg360=) | |
| 14 | g.21312471del | CA7088874 | RPGRIP1 | c.1116del (p.Lys372AsnfsTer3) c.1035del (p.Lys345AsnfsTer3) c.1083del (p.Lys361AsnfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312469A>C | CA388862820 | RPGRIP1 | c.1114A>C (p.Lys372Gln) c.1033A>C (p.Lys345Gln) c.1081A>C (p.Lys361Gln) | |
| 14 | g.21312469A>G | CA388862821 | RPGRIP1 | c.1114A>G (p.Lys372Glu) c.1033A>G (p.Lys345Glu) c.1081A>G (p.Lys361Glu) | |
| 14 | g.21312469A>T | CA388862822 | RPGRIP1 | c.1114A>T (p.Lys372Ter) c.1033A>T (p.Lys345Ter) c.1081A>T (p.Lys361Ter) | |
| 14 | g.21312470A>C | CA388862824 | RPGRIP1 | c.1115A>C (p.Lys372Thr) c.1034A>C (p.Lys345Thr) c.1082A>C (p.Lys361Thr) | gnomAD v4 |
| 14 | g.21312470A>G | CA388862826 | RPGRIP1 | c.1115A>G (p.Lys372Arg) c.1034A>G (p.Lys345Arg) c.1082A>G (p.Lys361Arg) | |
| 14 | g.21312470A>T | CA388862828 | RPGRIP1 | c.1115A>T (p.Lys372Ile) c.1034A>T (p.Lys345Ile) c.1082A>T (p.Lys361Ile) | |
| 14 | g.21312471A= | CA2122452862 | RPGRIP1 | c.1116A= (p.Lys372=) c.1035A= (p.Lys345=) c.1083A= (p.Lys361=) | |
| 14 | g.21312471A>C | CA388862829 | RPGRIP1 | c.1116A>C (p.Lys372Asn) c.1035A>C (p.Lys345Asn) c.1083A>C (p.Lys361Asn) | |
| 14 | g.21312471A>G | CA7088876 | RPGRIP1 | c.1116A>G (p.Lys372=) c.1035A>G (p.Lys345=) c.1083A>G (p.Lys361=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312471A>T | CA388862831 | RPGRIP1 | c.1116A>T (p.Lys372Asn) c.1035A>T (p.Lys345Asn) c.1083A>T (p.Lys361Asn) | |
| 14 | g.21312472T>A | CA388862834 | RPGRIP1 | c.1117T>A (p.Leu373Met) c.1036T>A (p.Leu346Met) c.1084T>A (p.Leu362Met) | |
| 14 | g.21312472T>C | CA484991153 | RPGRIP1 | c.1117T>C (p.Leu373=) c.1036T>C (p.Leu346=) c.1084T>C (p.Leu362=) | |
| 14 | g.21312472T>G | CA388862835 | RPGRIP1 | c.1117T>G (p.Leu373Val) c.1036T>G (p.Leu346Val) c.1084T>G (p.Leu362Val) | |
| 14 | g.21312473T>A | CA388862836 | RPGRIP1 | c.1118T>A (p.Leu373Ter) c.1037T>A (p.Leu346Ter) c.1085T>A (p.Leu362Ter) | |
| 14 | g.21312473T>C | CA388862838 | RPGRIP1 | c.1118T>C (p.Leu373Ser) c.1037T>C (p.Leu346Ser) c.1085T>C (p.Leu362Ser) | ClinVar |
| 14 | g.21312473T>G | CA388862839 | RPGRIP1 | c.1118T>G (p.Leu373Trp) c.1037T>G (p.Leu346Trp) c.1085T>G (p.Leu362Trp) | |
| 14 | g.21312474G>A | CA484991155 | RPGRIP1 | c.1119G>A (p.Leu373=) c.1038G>A (p.Leu346=) c.1086G>A (p.Leu362=) | |
| 14 | g.21312474G>C | CA388862841 | RPGRIP1 | c.1119G>C (p.Leu373Phe) c.1038G>C (p.Leu346Phe) c.1086G>C (p.Leu362Phe) | |
| 14 | g.21312474G= | CA2122452866 | RPGRIP1 | c.1119G= (p.Leu373=) c.1038G= (p.Leu346=) c.1086G= (p.Leu362=) | |
| 14 | g.21312474G>T | CA257501656 | RPGRIP1 | c.1119G>T (p.Leu373Phe) c.1038G>T (p.Leu346Phe) c.1086G>T (p.Leu362Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312475C>A | CA388862843 | RPGRIP1 | c.1120C>A (p.Leu374Met) c.1039C>A (p.Leu347Met) c.1087C>A (p.Leu363Met) | gnomAD v4 |
| 14 | g.21312475C>G | CA388862845 | RPGRIP1 | c.1120C>G (p.Leu374Val) c.1039C>G (p.Leu347Val) c.1087C>G (p.Leu363Val) | |
| 14 | g.21312475C>T | CA484991158 | RPGRIP1 | c.1120C>T (p.Leu374=) c.1039C>T (p.Leu347=) c.1087C>T (p.Leu363=) | |
| 14 | g.21312476T>A | CA388862849 | RPGRIP1 | c.1121T>A (p.Leu374Gln) c.1040T>A (p.Leu347Gln) c.1088T>A (p.Leu363Gln) | gnomAD v4 |
| 14 | g.21312476T>C | CA388862847 | RPGRIP1 | c.1121T>C (p.Leu374Pro) c.1040T>C (p.Leu347Pro) c.1088T>C (p.Leu363Pro) | |
| 14 | g.21312476T>G | CA388862846 | RPGRIP1 | c.1121T>G (p.Leu374Arg) c.1040T>G (p.Leu347Arg) c.1088T>G (p.Leu363Arg) | |
| 14 | g.21312477G>A | CA484991160 | RPGRIP1 | c.1122G>A (p.Leu374=) c.1041G>A (p.Leu347=) c.1089G>A (p.Leu363=) | |
| 14 | g.21312477G>C | CA484991162 | RPGRIP1 | c.1122G>C (p.Leu374=) c.1041G>C (p.Leu347=) c.1089G>C (p.Leu363=) | dbSNP |
| 14 | g.21312477G= | CA2122452868 | RPGRIP1 | c.1122G= (p.Leu374=) c.1041G= (p.Leu347=) c.1089G= (p.Leu363=) | |
| 14 | g.21312477G>T | CA484991165 | RPGRIP1 | c.1122G>T (p.Leu374=) c.1041G>T (p.Leu347=) c.1089G>T (p.Leu363=) | |
| 14 | g.21312478A>C | CA388862851 | RPGRIP1 | c.1123A>C (p.Asn375His) c.1042A>C (p.Asn348His) c.1090A>C (p.Asn364His) | |
| 14 | g.21312478A>G | CA388862853 | RPGRIP1 | c.1123A>G (p.Asn375Asp) c.1042A>G (p.Asn348Asp) c.1090A>G (p.Asn364Asp) | |
| 14 | g.21312478A>T | CA388862854 | RPGRIP1 | c.1123A>T (p.Asn375Tyr) c.1042A>T (p.Asn348Tyr) c.1090A>T (p.Asn364Tyr) | |
| 14 | g.21312479A>C | CA388862856 | RPGRIP1 | c.1124A>C (p.Asn375Thr) c.1043A>C (p.Asn348Thr) c.1091A>C (p.Asn364Thr) | |
| 14 | g.21312479A>G | CA388862857 | RPGRIP1 | c.1124A>G (p.Asn375Ser) c.1043A>G (p.Asn348Ser) c.1091A>G (p.Asn364Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312479A>T | CA388862859 | RPGRIP1 | c.1124A>T (p.Asn375Ile) c.1043A>T (p.Asn348Ile) c.1091A>T (p.Asn364Ile) | |
| 14 | g.21312480T>A | CA388862861 | RPGRIP1 | c.1125T>A (p.Asn375Lys) c.1044T>A (p.Asn348Lys) c.1092T>A (p.Asn364Lys) | |
| 14 | g.21312480T>C | CA484991170 | RPGRIP1 | c.1125T>C (p.Asn375=) c.1044T>C (p.Asn348=) c.1092T>C (p.Asn364=) | |
| 14 | g.21312480T>G | CA388862862 | RPGRIP1 | c.1125T>G (p.Asn375Lys) c.1044T>G (p.Asn348Lys) c.1092T>G (p.Asn364Lys) | |
| 14 | g.21312481G>A | CA388862863 | RPGRIP1 | c.1126G>A (p.Asp376Asn) c.1045G>A (p.Asp349Asn) c.1093G>A (p.Asp365Asn) | |
| 14 | g.21312481G>C | CA388862864 | RPGRIP1 | c.1126G>C (p.Asp376His) c.1045G>C (p.Asp349His) c.1093G>C (p.Asp365His) | |
| 14 | g.21312481G>T | CA388862866 | RPGRIP1 | c.1126G>T (p.Asp376Tyr) c.1045G>T (p.Asp349Tyr) c.1093G>T (p.Asp365Tyr) | |
| 14 | g.21312482A= | CA2122452870 | RPGRIP1 | c.1127A= (p.Asp376=) c.1046A= (p.Asp349=) c.1094A= (p.Asp365=) | |
| 14 | g.21312482A>C | CA388862871 | RPGRIP1 | c.1127A>C (p.Asp376Ala) c.1046A>C (p.Asp349Ala) c.1094A>C (p.Asp365Ala) | gnomAD v4 |
| 14 | g.21312482A>G | CA388862869 | RPGRIP1 | c.1127A>G (p.Asp376Gly) c.1046A>G (p.Asp349Gly) c.1094A>G (p.Asp365Gly) | dbSNP gnomAD v4 |
| 14 | g.21312482A>T | CA388862868 | RPGRIP1 | c.1127A>T (p.Asp376Val) c.1046A>T (p.Asp349Val) c.1094A>T (p.Asp365Val) | |
| 14 | g.21312483C>A | CA388862872 | RPGRIP1 | c.1128C>A (p.Asp376Glu) c.1047C>A (p.Asp349Glu) c.1095C>A (p.Asp365Glu) | gnomAD v4 |
| 14 | g.21312483C= | CA2122452873 | RPGRIP1 | c.1128C= (p.Asp376=) c.1047C= (p.Asp349=) c.1095C= (p.Asp365=) | |
| 14 | g.21312483C>G | CA388862874 | RPGRIP1 | c.1128C>G (p.Asp376Glu) c.1047C>G (p.Asp349Glu) c.1095C>G (p.Asp365Glu) | dbSNP gnomAD v4 |
| 14 | g.21312483C>T | CA484991175 | RPGRIP1 | c.1128C>T (p.Asp376=) c.1047C>T (p.Asp349=) c.1095C>T (p.Asp365=) | |
| 14 | g.21312484A>C | CA388862876 | RPGRIP1 | c.1129A>C (p.Asn377His) c.1048A>C (p.Asn350His) c.1096A>C (p.Asn366His) | gnomAD v4 |
| 14 | g.21312484A>G | CA388862878 | RPGRIP1 | c.1129A>G (p.Asn377Asp) c.1048A>G (p.Asn350Asp) c.1096A>G (p.Asn366Asp) | |
| 14 | g.21312484A>T | CA388862879 | RPGRIP1 | c.1129A>T (p.Asn377Tyr) c.1048A>T (p.Asn350Tyr) c.1096A>T (p.Asn366Tyr) | |
| 14 | g.21312485A= | CA2122452876 | RPGRIP1 | c.1130A= (p.Asn377=) c.1049A= (p.Asn350=) c.1097A= (p.Asn366=) | |
| 14 | g.21312485A>C | CA388862880 | RPGRIP1 | c.1130A>C (p.Asn377Thr) c.1049A>C (p.Asn350Thr) c.1097A>C (p.Asn366Thr) | |
| 14 | g.21312485A>G | CA7088877 | RPGRIP1 | c.1130A>G (p.Asn377Ser) c.1049A>G (p.Asn350Ser) c.1097A>G (p.Asn366Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312485A>T | CA388862883 | RPGRIP1 | c.1130A>T (p.Asn377Ile) c.1049A>T (p.Asn350Ile) c.1097A>T (p.Asn366Ile) | |
| 14 | g.21312486T>A | CA388862884 | RPGRIP1 | c.1131T>A (p.Asn377Lys) c.1050T>A (p.Asn350Lys) c.1098T>A (p.Asn366Lys) | |
| 14 | g.21312486T>C | CA484991179 | RPGRIP1 | c.1131T>C (p.Asn377=) c.1050T>C (p.Asn350=) c.1098T>C (p.Asn366=) | |
| 14 | g.21312486T>G | CA388862886 | RPGRIP1 | c.1131T>G (p.Asn377Lys) c.1050T>G (p.Asn350Lys) c.1098T>G (p.Asn366Lys) | COSMIC |
| 14 | g.21312487T>A | CA388862888 | RPGRIP1 | c.1132T>A (p.Tyr378Asn) c.1051T>A (p.Tyr351Asn) c.1099T>A (p.Tyr367Asn) | gnomAD v4 |
| 14 | g.21312487T>C | CA388862890 | RPGRIP1 | c.1132T>C (p.Tyr378His) c.1051T>C (p.Tyr351His) c.1099T>C (p.Tyr367His) | |
| 14 | g.21312487T>G | CA388862891 | RPGRIP1 | c.1132T>G (p.Tyr378Asp) c.1051T>G (p.Tyr351Asp) c.1099T>G (p.Tyr367Asp) | |
| 14 | g.21312487T= | CA2122452878 | RPGRIP1 | c.1132T= (p.Tyr378=) c.1051T= (p.Tyr351=) c.1099T= (p.Tyr367=) | |
| 14 | g.21312488A>C | CA388862895 | RPGRIP1 | c.1133A>C (p.Tyr378Ser) c.1052A>C (p.Tyr351Ser) c.1100A>C (p.Tyr367Ser) | |
| 14 | g.21312488A>G | CA388862897 | RPGRIP1 | c.1133A>G (p.Tyr378Cys) c.1052A>G (p.Tyr351Cys) c.1100A>G (p.Tyr367Cys) | gnomAD v4 |
| 14 | g.21312488A>T | CA388862893 | RPGRIP1 | c.1133A>T (p.Tyr378Phe) c.1052A>T (p.Tyr351Phe) c.1100A>T (p.Tyr367Phe) | |
| 14 | g.21312488dup | CA612371636 | RPGRIP1 | c.1133dup (p.Tyr378Ter) c.1052dup (p.Tyr351Ter) c.1100dup (p.Tyr367Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.21312489T>A | CA388862900 | RPGRIP1 | c.1134T>A (p.Tyr378Ter) c.1053T>A (p.Tyr351Ter) c.1101T>A (p.Tyr367Ter) | |
| 14 | g.21312489T>C | CA484991183 | RPGRIP1 | c.1134T>C (p.Tyr378=) c.1053T>C (p.Tyr351=) c.1101T>C (p.Tyr367=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312489T>G | CA388862898 | RPGRIP1 | c.1134T>G (p.Tyr378Ter) c.1053T>G (p.Tyr351Ter) c.1101T>G (p.Tyr367Ter) | |
| 14 | g.21312489T= | CA2122452890 | RPGRIP1 | c.1134T= (p.Tyr378=) c.1053T= (p.Tyr351=) c.1101T= (p.Tyr367=) | |
| 14 | g.21312490G>A | CA7088878 | RPGRIP1 | c.1135G>A (p.Asp379Asn) c.1054G>A (p.Asp352Asn) c.1102G>A (p.Asp368Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312490G>C | CA388862902 | RPGRIP1 | c.1135G>C (p.Asp379His) c.1054G>C (p.Asp352His) c.1102G>C (p.Asp368His) | |
| 14 | g.21312490G= | CA2122452894 | RPGRIP1 | c.1135G= (p.Asp379=) c.1054G= (p.Asp352=) c.1102G= (p.Asp368=) | |
| 14 | g.21312490G>T | CA388862904 | RPGRIP1 | c.1135G>T (p.Asp379Tyr) c.1054G>T (p.Asp352Tyr) c.1102G>T (p.Asp368Tyr) | |
| 14 | g.21312491A>C | CA388862905 | RPGRIP1 | c.1136A>C (p.Asp379Ala) c.1055A>C (p.Asp352Ala) c.1103A>C (p.Asp368Ala) | |
| 14 | g.21312491A>G | CA388862907 | RPGRIP1 | c.1136A>G (p.Asp379Gly) c.1055A>G (p.Asp352Gly) c.1103A>G (p.Asp368Gly) | |
| 14 | g.21312491A>T | CA388862909 | RPGRIP1 | c.1136A>T (p.Asp379Val) c.1055A>T (p.Asp352Val) c.1103A>T (p.Asp368Val) | |
| 14 | g.21312492C>A | CA388862911 | RPGRIP1 | c.1137C>A (p.Asp379Glu) c.1056C>A (p.Asp352Glu) c.1104C>A (p.Asp368Glu) | |
| 14 | g.21312492C= | CA2122452896 | RPGRIP1 | c.1137C= (p.Asp379=) c.1056C= (p.Asp352=) c.1104C= (p.Asp368=) | |
| 14 | g.21312492C>G | CA388862912 | RPGRIP1 | c.1137C>G (p.Asp379Glu) c.1056C>G (p.Asp352Glu) c.1104C>G (p.Asp368Glu) | |
| 14 | g.21312492C>T | CA484991190 | RPGRIP1 | c.1137C>T (p.Asp379=) c.1056C>T (p.Asp352=) c.1104C>T (p.Asp368=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.21312492_21312493delinsCA | CA2122452897 | RPGRIP1 | c.1137_1138delinsCA (p.Asp379=) c.1056_1057delinsCA (p.Asp352=) c.1104_1105delinsCA (p.Asp368=) | |
| 14 | g.21312493A>C | CA388862913 | RPGRIP1 | c.1138A>C (p.Lys380Gln) c.1057A>C (p.Lys353Gln) c.1105A>C (p.Lys369Gln) | gnomAD v4 |
| 14 | g.21312493A>G | CA388862914 | RPGRIP1 | c.1138A>G (p.Lys380Glu) c.1057A>G (p.Lys353Glu) c.1105A>G (p.Lys369Glu) | gnomAD v4 |
| 14 | g.21312493A>T | CA388862915 | RPGRIP1 | c.1138A>T (p.Lys380Ter) c.1057A>T (p.Lys353Ter) c.1105A>T (p.Lys369Ter) | |
| 14 | g.21312495del | CA960927427 | RPGRIP1 | c.1140del (p.Lys380AsnfsTer3) c.1059del (p.Lys353AsnfsTer3) c.1107del (p.Lys369AsnfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.21312494A>C | CA388862917 | RPGRIP1 | c.1139A>C (p.Lys380Thr) c.1058A>C (p.Lys353Thr) c.1106A>C (p.Lys369Thr) | COSMIC |
| 14 | g.21312494A>G | CA388862918 | RPGRIP1 | c.1139A>G (p.Lys380Arg) c.1058A>G (p.Lys353Arg) c.1106A>G (p.Lys369Arg) | |
| 14 | g.21312494A>T | CA388862916 | RPGRIP1 | c.1139A>T (p.Lys380Ile) c.1058A>T (p.Lys353Ile) c.1106A>T (p.Lys369Ile) | |
| 14 | g.21312495A>C | CA388862919 | RPGRIP1 | c.1140A>C (p.Lys380Asn) c.1059A>C (p.Lys353Asn) c.1107A>C (p.Lys369Asn) | |
| 14 | g.21312495A>G | CA484991196 | RPGRIP1 | c.1140A>G (p.Lys380=) c.1059A>G (p.Lys353=) c.1107A>G (p.Lys369=) | COSMIC |
| 14 | g.21312495A>T | CA388862920 | RPGRIP1 | c.1140A>T (p.Lys380Asn) c.1059A>T (p.Lys353Asn) c.1107A>T (p.Lys369Asn) | |
| 14 | g.21312496C>A | CA388862921 | RPGRIP1 | c.1141C>A (p.Leu381Ile) c.1060C>A (p.Leu354Ile) c.1108C>A (p.Leu370Ile) | |
| 14 | g.21312496C= | CA2122452900 | RPGRIP1 | c.1141C= (p.Leu381=) c.1060C= (p.Leu354=) c.1108C= (p.Leu370=) | |
| 14 | g.21312496C>G | CA388862922 | RPGRIP1 | c.1141C>G (p.Leu381Val) c.1060C>G (p.Leu354Val) c.1108C>G (p.Leu370Val) | |
| 14 | g.21312496C>T | CA388862923 | RPGRIP1 | c.1141C>T (p.Leu381Phe) c.1060C>T (p.Leu354Phe) c.1108C>T (p.Leu370Phe) | |
| 14 | g.21312497T>A | CA7088880 | RPGRIP1 | c.1142T>A (p.Leu381His) c.1061T>A (p.Leu354His) c.1109T>A (p.Leu370His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312497T>C | CA388862925 | RPGRIP1 | c.1142T>C (p.Leu381Pro) c.1061T>C (p.Leu354Pro) c.1109T>C (p.Leu370Pro) | |
| 14 | g.21312497T>G | CA388862924 | RPGRIP1 | c.1142T>G (p.Leu381Arg) c.1061T>G (p.Leu354Arg) c.1109T>G (p.Leu370Arg) | |
| 14 | g.21312497T= | CA2122452904 | RPGRIP1 | c.1142T= (p.Leu381=) c.1061T= (p.Leu354=) c.1109T= (p.Leu370=) | |
| 14 | g.21312498_21312500dup | CA7088879 | RPGRIP1 | c.1143_1145dup (p.Leu381_Leu382insPhe) c.1062_1064dup (p.Leu354_Leu355insPhe) c.1110_1112dup (p.Leu370_Leu371insPhe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.21312498C>A | CA484991205 | RPGRIP1 | c.1143C>A (p.Leu381=) c.1062C>A (p.Leu354=) c.1110C>A (p.Leu370=) | |
| 14 | g.21312498C>G | CA484991207 | RPGRIP1 | c.1143C>G (p.Leu381=) c.1062C>G (p.Leu354=) c.1110C>G (p.Leu370=) | |
| 14 | g.21312498C>T | CA484991209 | RPGRIP1 | c.1143C>T (p.Leu381=) c.1062C>T (p.Leu354=) c.1110C>T (p.Leu370=) | gnomAD v4 |
| 14 | g.21312499T>A | CA388862926 | RPGRIP1 | c.1144T>A (p.Leu382Ile) c.1063T>A (p.Leu355Ile) c.1111T>A (p.Leu371Ile) | |
| 14 | g.21312499T>C | CA484991212 | RPGRIP1 | c.1144T>C (p.Leu382=) c.1063T>C (p.Leu355=) c.1111T>C (p.Leu371=) | |
| 14 | g.21312499T>G | CA388862927 | RPGRIP1 | c.1144T>G (p.Leu382Val) c.1063T>G (p.Leu355Val) c.1111T>G (p.Leu371Val) | |
| 14 | g.21312500del | CA2624070066 | RPGRIP1 | c.1145del (p.Leu382Ter) c.1064del (p.Leu355Ter) c.1112del (p.Leu371Ter) | gnomAD v4 |
| 14 | g.21312500T>A | CA388862928 | RPGRIP1 | c.1145T>A (p.Leu382Ter) c.1064T>A (p.Leu355Ter) c.1112T>A (p.Leu371Ter) | ClinVar dbSNP gnomAD v4 |
| 14 | g.21312500T>C | CA388862929 | RPGRIP1 | c.1145T>C (p.Leu382Ser) c.1064T>C (p.Leu355Ser) c.1112T>C (p.Leu371Ser) | |
| 14 | g.21312500T>G | CA388862930 | RPGRIP1 | c.1145T>G (p.Leu382Ter) c.1064T>G (p.Leu355Ter) c.1112T>G (p.Leu371Ter) | |
| 14 | g.21312501A>C | CA388862931 | RPGRIP1 | c.1146A>C (p.Leu382Phe) c.1065A>C (p.Leu355Phe) c.1113A>C (p.Leu371Phe) | |
| 14 | g.21312501A>G | CA484991216 | RPGRIP1 | c.1146A>G (p.Leu382=) c.1065A>G (p.Leu355=) c.1113A>G (p.Leu371=) | gnomAD v4 |
| 14 | g.21312501A>T | CA388862932 | RPGRIP1 | c.1146A>T (p.Leu382Phe) c.1065A>T (p.Leu355Phe) c.1113A>T (p.Leu371Phe) | |
| 14 | g.21312503_21312506del | CA2695219048 | RPGRIP1 | c.1148_1151del (p.Glu383AlafsTer19) c.1067_1070del (p.Glu356AlafsTer19) c.1115_1118del (p.Glu372AlafsTer19) | |
| 14 | g.21312502G>A | CA388862933 | RPGRIP1 | c.1147G>A (p.Glu383Lys) c.1066G>A (p.Glu356Lys) c.1114G>A (p.Glu372Lys) | |
| 14 | g.21312502G>C | CA388862934 | RPGRIP1 | c.1147G>C (p.Glu383Gln) c.1066G>C (p.Glu356Gln) c.1114G>C (p.Glu372Gln) | |
| 14 | g.21312502G>T | CA388862935 | RPGRIP1 | c.1147G>T (p.Glu383Ter) c.1066G>T (p.Glu356Ter) c.1114G>T (p.Glu372Ter) | |
| 14 | g.21312503A>C | CA388862936 | RPGRIP1 | c.1148A>C (p.Glu383Ala) c.1067A>C (p.Glu356Ala) c.1115A>C (p.Glu372Ala) | |
| 14 | g.21312503A>G | CA388862937 | RPGRIP1 | c.1148A>G (p.Glu383Gly) c.1067A>G (p.Glu356Gly) c.1115A>G (p.Glu372Gly) | gnomAD v4 |
| 14 | g.21312503A>T | CA388862938 | RPGRIP1 | c.1148A>T (p.Glu383Val) c.1067A>T (p.Glu356Val) c.1115A>T (p.Glu372Val) | |
| 14 | g.21312504A>C | CA388862940 | RPGRIP1 | c.1149A>C (p.Glu383Asp) c.1068A>C (p.Glu356Asp) c.1116A>C (p.Glu372Asp) | |
| 14 | g.21312504A>G | CA484991224 | RPGRIP1 | c.1149A>G (p.Glu383=) c.1068A>G (p.Glu356=) c.1116A>G (p.Glu372=) | gnomAD v4 |
| 14 | g.21312504A>T | CA388862939 | RPGRIP1 | c.1149A>T (p.Glu383Asp) c.1068A>T (p.Glu356Asp) c.1116A>T (p.Glu372Asp) | |
| 14 | g.21312505A>C | CA388862941 | RPGRIP1 | c.1150A>C (p.Ser384Arg) c.1069A>C (p.Ser357Arg) c.1117A>C (p.Ser373Arg) | |
| 14 | g.21312505A>G | CA388862942 | RPGRIP1 | c.1150A>G (p.Ser384Gly) c.1069A>G (p.Ser357Gly) c.1117A>G (p.Ser373Gly) | gnomAD v4 |
| 14 | g.21312505A>T | CA388862943 | RPGRIP1 | c.1150A>T (p.Ser384Cys) c.1069A>T (p.Ser357Cys) c.1117A>T (p.Ser373Cys) | |
| 14 | g.21312506G>A | CA388862944 | RPGRIP1 | c.1151G>A (p.Ser384Asn) c.1070G>A (p.Ser357Asn) c.1118G>A (p.Ser373Asn) | dbSNP gnomAD v4 |
| 14 | g.21312506G>C | CA388862945 | RPGRIP1 | c.1151G>C (p.Ser384Thr) c.1070G>C (p.Ser357Thr) c.1118G>C (p.Ser373Thr) | |
| 14 | g.21312506G= | CA2122452909 | RPGRIP1 | c.1151G= (p.Ser384=) c.1070G= (p.Ser357=) c.1118G= (p.Ser373=) | |
| 14 | g.21312506G>T | CA388862946 | RPGRIP1 | c.1151G>T (p.Ser384Ile) c.1070G>T (p.Ser357Ile) c.1118G>T (p.Ser373Ile) | gnomAD v4 |
| 14 | g.21312507G>A | CA7088881 | RPGRIP1 | c.1151+1G>A (n.1151+1G>A) c.1070+1G>A (n.1070+1G>A) c.1118+1G>A (n.1118+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.21312507G>C | CA388862948 | RPGRIP1 | c.1151+1G>C (n.1151+1G>C) c.1070+1G>C (n.1070+1G>C) c.1118+1G>C (n.1118+1G>C) | |
| 14 | g.21312507G= | CA2122452913 | RPGRIP1 | c.1151+1G= (n.1151+1G=) c.1070+1G= (n.1070+1G=) c.1118+1G= (n.1118+1G=) | |
| 14 | g.21312507G>T | CA388862947 | RPGRIP1 | c.1151+1G>T (n.1151+1G>T) c.1070+1G>T (n.1070+1G>T) c.1118+1G>T (n.1118+1G>T) | gnomAD v4 |
| 14 | g.21312508T>A | CA388862949 | RPGRIP1 | c.1151+2T>A (n.1151+2T>A) c.1070+2T>A (n.1070+2T>A) c.1118+2T>A (n.1118+2T>A) | |
| 14 | g.21312508T>C | CA388862950 | RPGRIP1 | c.1151+2T>C (n.1151+2T>C) c.1070+2T>C (n.1070+2T>C) c.1118+2T>C (n.1118+2T>C) | |
| 14 | g.21312508T>G | CA388862951 | RPGRIP1 | c.1151+2T>G (n.1151+2T>G) c.1070+2T>G (n.1070+2T>G) c.1118+2T>G (n.1118+2T>G) | |
| 14 | g.21312510A= | CA2122452916 | RPGRIP1 | c.1151+4A= (n.1151+4A=) c.1070+4A= (n.1070+4A=) c.1118+4A= (n.1118+4A=) | |
| 14 | g.21312510A>G | CA704074192 | RPGRIP1 | c.1151+4A>G (n.1151+4A>G) c.1070+4A>G (n.1070+4A>G) c.1118+4A>G (n.1118+4A>G) | dbSNP gnomAD v4 |
| 14 | g.21312511G>A | CA2575475917 | RPGRIP1 | c.1151+5G>A (n.1151+5G>A) c.1070+5G>A (n.1070+5G>A) c.1118+5G>A (n.1118+5G>A) | gnomAD v4 |
| 14 | g.21312512T>C | CA612371641 | RPGRIP1 | c.1151+6T>C (n.1151+6T>C) c.1070+6T>C (n.1070+6T>C) c.1118+6T>C (n.1118+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.21312512T= | CA2122452918 | RPGRIP1 | c.1151+6T= (n.1151+6T=) c.1070+6T= (n.1070+6T=) c.1118+6T= (n.1118+6T=) |