SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.53645877_53645897dup | CA2633237785 | RPGRIP1L | c.2412_2432dup (p.Pro811_His812insArgAlaSerHisLeuGlnPro) n.2836_2856dup c.2424_2444dup (p.Pro815_His816insArgAlaSerHisLeuGlnPro) c.657_677dup (p.Pro226_His227insArgAlaSerHisLeuGlnPro) n.2456_2476dup n.2467_2487dup | gnomAD v4 |
| 16 | g.53645893_53645912del | CA2633237795 | RPGRIP1L | c.2400_2419del (p.Asn800LysfsTer15) n.2824_2843del c.2412_2431del (p.Asn804LysfsTer15) c.645_664del (p.Asn215LysfsTer15) n.2444_2463del n.2455_2474del | gnomAD v4 |
| 16 | g.53645895G>A | CA210648 | RPGRIP1L | c.2413C>T (p.Arg805Ter) n.2837C>T c.2425C>T (p.Arg809Ter) c.658C>T (p.Arg220Ter) n.2457C>T n.2468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.53645895G>C | CA395914675 | RPGRIP1L | c.2413C>G (p.Arg805Gly) n.2837C>G c.2425C>G (p.Arg809Gly) c.658C>G (p.Arg220Gly) n.2457C>G n.2468C>G | |
| 16 | g.53645895G= | CA2223254498 | RPGRIP1L | c.2413C= (p.Arg805=) n.2837C= c.2425C= (p.Arg809=) c.658C= (p.Arg220=) n.2457C= n.2468C= | |
| 16 | g.53645895G>T | CA495784439 | RPGRIP1L | c.2413C>A (p.Arg805=) n.2837C>A c.2425C>A (p.Arg809=) c.658C>A (p.Arg220=) n.2457C>A n.2468C>A | |
| 16 | g.53645896G>A | CA495784440 | RPGRIP1L | c.2412C>T (p.Ser804=) n.2836C>T c.2424C>T (p.Ser808=) c.657C>T (p.Ser219=) n.2456C>T n.2467C>T | |
| 16 | g.53645896G>C | CA495784442 | RPGRIP1L | c.2412C>G (p.Ser804=) n.2836C>G c.2424C>G (p.Ser808=) c.657C>G (p.Ser219=) n.2456C>G n.2467C>G | |
| 16 | g.53645896G>T | CA495784441 | RPGRIP1L | c.2412C>A (p.Ser804=) n.2836C>A c.2424C>A (p.Ser808=) c.657C>A (p.Ser219=) n.2456C>A n.2467C>A | |
| 16 | g.53645897G>A | CA395914678 | RPGRIP1L | c.2411C>T (p.Ser804Phe) n.2835C>T c.2423C>T (p.Ser808Phe) c.656C>T (p.Ser219Phe) n.2455C>T n.2466C>T | gnomAD v4 |
| 16 | g.53645897G>C | CA395914677 | RPGRIP1L | c.2411C>G (p.Ser804Cys) n.2835C>G c.2423C>G (p.Ser808Cys) c.656C>G (p.Ser219Cys) n.2455C>G n.2466C>G | |
| 16 | g.53645897G>T | CA395914676 | RPGRIP1L | c.2411C>A (p.Ser804Tyr) n.2835C>A c.2423C>A (p.Ser808Tyr) c.656C>A (p.Ser219Tyr) n.2455C>A n.2466C>A | |
| 16 | g.53645898A= | CA2223254503 | RPGRIP1L | c.2410T= (p.Ser804=) n.2834T= c.2422T= (p.Ser808=) c.655T= (p.Ser219=) n.2454T= n.2465T= | |
| 16 | g.53645898A>C | CA395914679 | RPGRIP1L | c.2410T>G (p.Ser804Ala) n.2834T>G c.2422T>G (p.Ser808Ala) c.655T>G (p.Ser219Ala) n.2454T>G n.2465T>G | |
| 16 | g.53645898A>G | CA395914680 | RPGRIP1L | c.2410T>C (p.Ser804Pro) n.2834T>C c.2422T>C (p.Ser808Pro) c.655T>C (p.Ser219Pro) n.2454T>C n.2465T>C | dbSNP gnomAD v4 |
| 16 | g.53645898A>T | CA395914681 | RPGRIP1L | c.2410T>A (p.Ser804Thr) n.2834T>A c.2422T>A (p.Ser808Thr) c.655T>A (p.Ser219Thr) n.2454T>A n.2465T>A | |
| 16 | g.53645899C>A | CA395914682 | RPGRIP1L | c.2409G>T (p.Gln803His) n.2833G>T c.2421G>T (p.Gln807His) c.654G>T (p.Gln218His) n.2453G>T n.2464G>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53645899C= | CA2223254507 | RPGRIP1L | c.2409G= (p.Gln803=) n.2833G= c.2421G= (p.Gln807=) c.654G= (p.Gln218=) n.2453G= n.2464G= | |
| 16 | g.53645899C>G | CA395914683 | RPGRIP1L | c.2409G>C (p.Gln803His) n.2833G>C c.2421G>C (p.Gln807His) c.654G>C (p.Gln218His) n.2453G>C n.2464G>C | |
| 16 | g.53645899C>T | CA495784443 | RPGRIP1L | c.2409G>A (p.Gln803=) n.2833G>A c.2421G>A (p.Gln807=) c.654G>A (p.Gln218=) n.2453G>A n.2464G>A | |
| 16 | g.53645900T>A | CA395914684 | RPGRIP1L | c.2408A>T (p.Gln803Leu) n.2832A>T c.2420A>T (p.Gln807Leu) c.653A>T (p.Gln218Leu) n.2452A>T n.2463A>T | |
| 16 | g.53645900T>C | CA395914685 | RPGRIP1L | c.2408A>G (p.Gln803Arg) n.2832A>G c.2420A>G (p.Gln807Arg) c.653A>G (p.Gln218Arg) n.2452A>G n.2463A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53645900T>G | CA395914686 | RPGRIP1L | c.2408A>C (p.Gln803Pro) n.2832A>C c.2420A>C (p.Gln807Pro) c.653A>C (p.Gln218Pro) n.2452A>C n.2463A>C | |
| 16 | g.53645900T= | CA2223254513 | RPGRIP1L | c.2408A= (p.Gln803=) n.2832A= c.2420A= (p.Gln807=) c.653A= (p.Gln218=) n.2452A= n.2463A= | |
| 16 | g.53645901G>A | CA395914687 | RPGRIP1L | c.2407C>T (p.Gln803Ter) n.2831C>T c.2419C>T (p.Gln807Ter) c.652C>T (p.Gln218Ter) n.2451C>T n.2462C>T | |
| 16 | g.53645901G>C | CA395914688 | RPGRIP1L | c.2407C>G (p.Gln803Glu) n.2831C>G c.2419C>G (p.Gln807Glu) c.652C>G (p.Gln218Glu) n.2451C>G n.2462C>G | |
| 16 | g.53645901G>T | CA395914689 | RPGRIP1L | c.2407C>A (p.Gln803Lys) n.2831C>A c.2419C>A (p.Gln807Lys) c.652C>A (p.Gln218Lys) n.2451C>A n.2462C>A | |
| 16 | g.53645902C>A | CA8057548 | RPGRIP1L | c.2406G>T (p.Leu802=) n.2830G>T c.2418G>T (p.Leu806=) c.651G>T (p.Leu217=) n.2450G>T n.2461G>T | dbSNP ExAC gnomAD v2 |
| 16 | g.53645902C= | CA2223254520 | RPGRIP1L | c.2406G= (p.Leu802=) n.2830G= c.2418G= (p.Leu806=) c.651G= (p.Leu217=) n.2450G= n.2461G= | |
| 16 | g.53645902C>G | CA495784444 | RPGRIP1L | c.2406G>C (p.Leu802=) n.2830G>C c.2418G>C (p.Leu806=) c.651G>C (p.Leu217=) n.2450G>C n.2461G>C | |
| 16 | g.53645902C>T | CA495784445 | RPGRIP1L | c.2406G>A (p.Leu802=) n.2830G>A c.2418G>A (p.Leu806=) c.651G>A (p.Leu217=) n.2450G>A n.2461G>A | dbSNP |
| 16 | g.53645903A>C | CA395914691 | RPGRIP1L | c.2405T>G (p.Leu802Arg) n.2829T>G c.2417T>G (p.Leu806Arg) c.650T>G (p.Leu217Arg) n.2449T>G n.2460T>G | |
| 16 | g.53645903A>G | CA395914692 | RPGRIP1L | c.2405T>C (p.Leu802Pro) n.2829T>C c.2417T>C (p.Leu806Pro) c.650T>C (p.Leu217Pro) n.2449T>C n.2460T>C | |
| 16 | g.53645903A>T | CA395914690 | RPGRIP1L | c.2405T>A (p.Leu802Gln) n.2829T>A c.2417T>A (p.Leu806Gln) c.650T>A (p.Leu217Gln) n.2449T>A n.2460T>A | |
| 16 | g.53645904G>A | CA495784447 | RPGRIP1L | c.2404C>T (p.Leu802=) n.2828C>T c.2416C>T (p.Leu806=) c.649C>T (p.Leu217=) n.2448C>T n.2459C>T | |
| 16 | g.53645904G>C | CA395914694 | RPGRIP1L | c.2404C>G (p.Leu802Val) n.2828C>G c.2416C>G (p.Leu806Val) c.649C>G (p.Leu217Val) n.2448C>G n.2459C>G | ClinVar |
| 16 | g.53645904G>T | CA395914693 | RPGRIP1L | c.2404C>A (p.Leu802Met) n.2828C>A c.2416C>A (p.Leu806Met) c.649C>A (p.Leu217Met) n.2448C>A n.2459C>A | COSMIC |
| 16 | g.53645905G>A | CA495784448 | RPGRIP1L | c.2403C>T (p.His801=) n.2827C>T c.2415C>T (p.His805=) c.648C>T (p.His216=) n.2447C>T n.2458C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53645905G>C | CA395914695 | RPGRIP1L | c.2403C>G (p.His801Gln) n.2827C>G c.2415C>G (p.His805Gln) c.648C>G (p.His216Gln) n.2447C>G n.2458C>G | |
| 16 | g.53645905G= | CA2223254526 | RPGRIP1L | c.2403C= (p.His801=) n.2827C= c.2415C= (p.His805=) c.648C= (p.His216=) n.2447C= n.2458C= | |
| 16 | g.53645905G>T | CA395914696 | RPGRIP1L | c.2403C>A (p.His801Gln) n.2827C>A c.2415C>A (p.His805Gln) c.648C>A (p.His216Gln) n.2447C>A n.2458C>A | |
| 16 | g.53645906T>A | CA395914697 | RPGRIP1L | c.2402A>T (p.His801Leu) n.2826A>T c.2414A>T (p.His805Leu) c.647A>T (p.His216Leu) n.2446A>T n.2457A>T | |
| 16 | g.53645906T>C | CA8057549 | RPGRIP1L | c.2402A>G (p.His801Arg) n.2826A>G c.2414A>G (p.His805Arg) c.647A>G (p.His216Arg) n.2446A>G n.2457A>G | dbSNP ExAC gnomAD v2 |
| 16 | g.53645906T>G | CA395914698 | RPGRIP1L | c.2402A>C (p.His801Pro) n.2826A>C c.2414A>C (p.His805Pro) c.647A>C (p.His216Pro) n.2446A>C n.2457A>C | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53645906T= | CA2223254529 | RPGRIP1L | c.2402A= (p.His801=) n.2826A= c.2414A= (p.His805=) c.647A= (p.His216=) n.2446A= n.2457A= | |
| 16 | g.53645907G>A | CA8057550 | RPGRIP1L | c.2401C>T (p.His801Tyr) n.2825C>T c.2413C>T (p.His805Tyr) c.646C>T (p.His216Tyr) n.2445C>T n.2456C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53645907G>C | CA395914699 | RPGRIP1L | c.2401C>G (p.His801Asp) n.2825C>G c.2413C>G (p.His805Asp) c.646C>G (p.His216Asp) n.2445C>G n.2456C>G | |
| 16 | g.53645907G= | CA2223254535 | RPGRIP1L | c.2401C= (p.His801=) n.2825C= c.2413C= (p.His805=) c.646C= (p.His216=) n.2445C= n.2456C= | |
| 16 | g.53645907G>T | CA395914700 | RPGRIP1L | c.2401C>A (p.His801Asn) n.2825C>A c.2413C>A (p.His805Asn) c.646C>A (p.His216Asn) n.2445C>A n.2456C>A | |
| 16 | g.53645908G>A | CA495784452 | RPGRIP1L | c.2400C>T (p.Asn800=) n.2824C>T c.2412C>T (p.Asn804=) c.645C>T (p.Asn215=) n.2444C>T n.2455C>T | gnomAD v4 |
| 16 | g.53645908G>C | CA395914701 | RPGRIP1L | c.2400C>G (p.Asn800Lys) n.2824C>G c.2412C>G (p.Asn804Lys) c.645C>G (p.Asn215Lys) n.2444C>G n.2455C>G | |
| 16 | g.53645908G>T | CA395914702 | RPGRIP1L | c.2400C>A (p.Asn800Lys) n.2824C>A c.2412C>A (p.Asn804Lys) c.645C>A (p.Asn215Lys) n.2444C>A n.2455C>A | |
| 16 | g.53645909T>A | CA395914703 | RPGRIP1L | c.2399A>T (p.Asn800Ile) n.2823A>T c.2411A>T (p.Asn804Ile) c.644A>T (p.Asn215Ile) n.2443A>T n.2454A>T | |
| 16 | g.53645909T>C | CA395914704 | RPGRIP1L | c.2399A>G (p.Asn800Ser) n.2823A>G c.2411A>G (p.Asn804Ser) c.644A>G (p.Asn215Ser) n.2443A>G n.2454A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53645909T>G | CA8057551 | RPGRIP1L | c.2399A>C (p.Asn800Thr) n.2823A>C c.2411A>C (p.Asn804Thr) c.644A>C (p.Asn215Thr) n.2443A>C n.2454A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53645909T= | CA2223254547 | RPGRIP1L | c.2399A= (p.Asn800=) n.2823A= c.2411A= (p.Asn804=) c.644A= (p.Asn215=) n.2443A= n.2454A= | |
| 16 | g.53645909_53645910insA | CA2807074935 | RPGRIP1L | c.2398_2399insT (p.Asn800IlefsTer22) n.2822_2823insT c.2410_2411insT (p.Asn804IlefsTer22) c.643_644insT (p.Asn215IlefsTer22) n.2442_2443insT n.2453_2454insT | |
| 16 | g.53645910T>A | CA395914705 | RPGRIP1L | c.2398A>T (p.Asn800Tyr) n.2822A>T c.2410A>T (p.Asn804Tyr) c.643A>T (p.Asn215Tyr) n.2442A>T n.2453A>T | |
| 16 | g.53645910T>C | CA395914706 | RPGRIP1L | c.2398A>G (p.Asn800Asp) n.2822A>G c.2410A>G (p.Asn804Asp) c.643A>G (p.Asn215Asp) n.2442A>G n.2453A>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.53645910T>G | CA8057552 | RPGRIP1L | c.2398A>C (p.Asn800His) n.2822A>C c.2410A>C (p.Asn804His) c.643A>C (p.Asn215His) n.2442A>C n.2453A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645910T= | CA2223254551 | RPGRIP1L | c.2398A= (p.Asn800=) n.2822A= c.2410A= (p.Asn804=) c.643A= (p.Asn215=) n.2442A= n.2453A= | |
| 16 | g.53645911G>A | CA8057553 | RPGRIP1L | c.2397C>T (p.Cys799=) n.2821C>T c.2409C>T (p.Cys803=) c.642C>T (p.Cys214=) n.2441C>T n.2452C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645911G>C | CA395914707 | RPGRIP1L | c.2397C>G (p.Cys799Trp) n.2821C>G c.2409C>G (p.Cys803Trp) c.642C>G (p.Cys214Trp) n.2441C>G n.2452C>G | |
| 16 | g.53645911G= | CA2223254563 | RPGRIP1L | c.2397C= (p.Cys799=) n.2821C= c.2409C= (p.Cys803=) c.642C= (p.Cys214=) n.2441C= n.2452C= | |
| 16 | g.53645911G>T | CA395914708 | RPGRIP1L | c.2397C>A (p.Cys799Ter) n.2821C>A c.2409C>A (p.Cys803Ter) c.642C>A (p.Cys214Ter) n.2441C>A n.2452C>A | ClinVar dbSNP |
| 16 | g.53645912C>A | CA395914709 | RPGRIP1L | c.2396G>T (p.Cys799Phe) n.2820G>T c.2408G>T (p.Cys803Phe) c.641G>T (p.Cys214Phe) n.2440G>T n.2451G>T | gnomAD v4 |
| 16 | g.53645912C>G | CA395914710 | RPGRIP1L | c.2396G>C (p.Cys799Ser) n.2820G>C c.2408G>C (p.Cys803Ser) c.641G>C (p.Cys214Ser) n.2440G>C n.2451G>C | |
| 16 | g.53645912C>T | CA395914711 | RPGRIP1L | c.2396G>A (p.Cys799Tyr) n.2820G>A c.2408G>A (p.Cys803Tyr) c.641G>A (p.Cys214Tyr) n.2440G>A n.2451G>A | |
| 16 | g.53645913A>C | CA395914712 | RPGRIP1L | c.2395T>G (p.Cys799Gly) n.2819T>G c.2407T>G (p.Cys803Gly) c.640T>G (p.Cys214Gly) n.2439T>G n.2450T>G | |
| 16 | g.53645913A>G | CA395914713 | RPGRIP1L | c.2395T>C (p.Cys799Arg) n.2819T>C c.2407T>C (p.Cys803Arg) c.640T>C (p.Cys214Arg) n.2439T>C n.2450T>C | |
| 16 | g.53645913A>T | CA395914714 | RPGRIP1L | c.2395T>A (p.Cys799Ser) n.2819T>A c.2407T>A (p.Cys803Ser) c.640T>A (p.Cys214Ser) n.2439T>A n.2450T>A | |
| 16 | g.53645913_53645914insTAACACTAAGGTATAATTTTGTTTTGTTTTT | CA2807074938 | RPGRIP1L | c.2394_2395insAAAAACAAAACAAAATTATACCTTAGTGTTA (p.Cys799LysfsTer33) n.2818_2819insAAAAACAAAACAAAATTATACCTTAGTGTTA c.2406_2407insAAAAACAAAACAAAATTATACCTTAGTGTTA (p.Cys803LysfsTer33) c.639_640insAAAAACAAAACAAAATTATACCTTAGTGTTA (p.Cys214LysfsTer33) n.2438_2439insAAAAACAAAACAAAATTATACCTTAGTGTTA n.2449_2450insAAAAACAAAACAAAATTATACCTTAGTGTTA | |
| 16 | g.53645914A>C | CA395914715 | RPGRIP1L | c.2394T>G (p.Cys798Trp) n.2818T>G c.2406T>G (p.Cys802Trp) c.639T>G (p.Cys213Trp) n.2438T>G n.2449T>G | |
| 16 | g.53645914A>G | CA495784455 | RPGRIP1L | c.2394T>C (p.Cys798=) n.2818T>C c.2406T>C (p.Cys802=) c.639T>C (p.Cys213=) n.2438T>C n.2449T>C | |
| 16 | g.53645914A>T | CA395914716 | RPGRIP1L | c.2394T>A (p.Cys798Ter) n.2818T>A c.2406T>A (p.Cys802Ter) c.639T>A (p.Cys213Ter) n.2438T>A n.2449T>A | |
| 16 | g.53645915C>A | CA395914719 | RPGRIP1L | c.2393G>T (p.Cys798Phe) n.2817G>T c.2405G>T (p.Cys802Phe) c.638G>T (p.Cys213Phe) n.2437G>T n.2448G>T | |
| 16 | g.53645915C>G | CA395914718 | RPGRIP1L | c.2393G>C (p.Cys798Ser) n.2817G>C c.2405G>C (p.Cys802Ser) c.638G>C (p.Cys213Ser) n.2437G>C n.2448G>C | |
| 16 | g.53645915C>T | CA395914717 | RPGRIP1L | c.2393G>A (p.Cys798Tyr) n.2817G>A c.2405G>A (p.Cys802Tyr) c.638G>A (p.Cys213Tyr) n.2437G>A n.2448G>A | COSMIC |
| 16 | g.53645916A>C | CA395914720 | RPGRIP1L | c.2392T>G (p.Cys798Gly) n.2816T>G c.2404T>G (p.Cys802Gly) c.637T>G (p.Cys213Gly) n.2436T>G n.2447T>G | |
| 16 | g.53645916A>G | CA395914721 | RPGRIP1L | c.2392T>C (p.Cys798Arg) n.2816T>C c.2404T>C (p.Cys802Arg) c.637T>C (p.Cys213Arg) n.2436T>C n.2447T>C | |
| 16 | g.53645916A>T | CA395914722 | RPGRIP1L | c.2392T>A (p.Cys798Ser) n.2816T>A c.2404T>A (p.Cys802Ser) c.637T>A (p.Cys213Ser) n.2436T>A n.2447T>A | |
| 16 | g.53645917T>A | CA395914723 | RPGRIP1L | c.2391A>T (p.Arg797Ser) n.2815A>T c.2403A>T (p.Arg801Ser) c.636A>T (p.Arg212Ser) n.2435A>T n.2446A>T | |
| 16 | g.53645917T>C | CA495784459 | RPGRIP1L | c.2391A>G (p.Arg797=) n.2815A>G c.2403A>G (p.Arg801=) c.636A>G (p.Arg212=) n.2435A>G n.2446A>G | ClinVar |
| 16 | g.53645917T>G | CA395914724 | RPGRIP1L | c.2391A>C (p.Arg797Ser) n.2815A>C c.2403A>C (p.Arg801Ser) c.636A>C (p.Arg212Ser) n.2435A>C n.2446A>C | |
| 16 | g.53645918C>A | CA281339426 | RPGRIP1L | c.2390G>T (p.Arg797Ile) n.2814G>T c.2402G>T (p.Arg801Ile) c.635G>T (p.Arg212Ile) n.2434G>T n.2445G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53645918C= | CA2223254574 | RPGRIP1L | c.2390G= (p.Arg797=) n.2814G= c.2402G= (p.Arg801=) c.635G= (p.Arg212=) n.2434G= n.2445G= | |
| 16 | g.53645918C>G | CA395914725 | RPGRIP1L | c.2390G>C (p.Arg797Thr) n.2814G>C c.2402G>C (p.Arg801Thr) c.635G>C (p.Arg212Thr) n.2434G>C n.2445G>C | |
| 16 | g.53645918C>T | CA395914726 | RPGRIP1L | c.2390G>A (p.Arg797Lys) n.2814G>A c.2402G>A (p.Arg801Lys) c.635G>A (p.Arg212Lys) n.2434G>A n.2445G>A | |
| 16 | g.53645919T>A | CA395914727 | RPGRIP1L | c.2389A>T (p.Arg797Ter) n.2813A>T c.2401A>T (p.Arg801Ter) c.634A>T (p.Arg212Ter) n.2433A>T n.2444A>T | |
| 16 | g.53645919T>C | CA395914728 | RPGRIP1L | c.2389A>G (p.Arg797Gly) n.2813A>G c.2401A>G (p.Arg801Gly) c.634A>G (p.Arg212Gly) n.2433A>G n.2444A>G | ClinVar |
| 16 | g.53645919T>G | CA495784460 | RPGRIP1L | c.2389A>C (p.Arg797=) n.2813A>C c.2401A>C (p.Arg801=) c.634A>C (p.Arg212=) n.2433A>C n.2444A>C | |
| 16 | g.53645920T>A | CA8057554 | RPGRIP1L | c.2388A>T (p.Ile796=) n.2812A>T c.2400A>T (p.Ile800=) c.633A>T (p.Ile211=) n.2432A>T n.2443A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645920T>C | CA281339432 | RPGRIP1L | c.2388A>G (p.Ile796Met) n.2812A>G c.2400A>G (p.Ile800Met) c.633A>G (p.Ile211Met) n.2432A>G n.2443A>G | ClinVar dbSNP |
| 16 | g.53645920T>G | CA495784461 | RPGRIP1L | c.2388A>C (p.Ile796=) n.2812A>C c.2400A>C (p.Ile800=) c.633A>C (p.Ile211=) n.2432A>C n.2443A>C | |
| 16 | g.53645920T= | CA2223254581 | RPGRIP1L | c.2388A= (p.Ile796=) n.2812A= c.2400A= (p.Ile800=) c.633A= (p.Ile211=) n.2432A= n.2443A= | |
| 16 | g.53645921A= | CA2223254584 | RPGRIP1L | c.2387T= (p.Ile796=) n.2811T= c.2399T= (p.Ile800=) c.632T= (p.Ile211=) n.2431T= n.2442T= | |
| 16 | g.53645921A>C | CA395914729 | RPGRIP1L | c.2387T>G (p.Ile796Arg) n.2811T>G c.2399T>G (p.Ile800Arg) c.632T>G (p.Ile211Arg) n.2431T>G n.2442T>G | |
| 16 | g.53645921A>G | CA395914730 | RPGRIP1L | c.2387T>C (p.Ile796Thr) n.2811T>C c.2399T>C (p.Ile800Thr) c.632T>C (p.Ile211Thr) n.2431T>C n.2442T>C | |
| 16 | g.53645921A>T | CA8057555 | RPGRIP1L | c.2387T>A (p.Ile796Lys) n.2811T>A c.2399T>A (p.Ile800Lys) c.632T>A (p.Ile211Lys) n.2431T>A n.2442T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645922T>A | CA395914731 | RPGRIP1L | c.2386A>T (p.Ile796Leu) n.2810A>T c.2398A>T (p.Ile800Leu) c.631A>T (p.Ile211Leu) n.2430A>T n.2441A>T | |
| 16 | g.53645922T>C | CA395914732 | RPGRIP1L | c.2386A>G (p.Ile796Val) n.2810A>G c.2398A>G (p.Ile800Val) c.631A>G (p.Ile211Val) n.2430A>G n.2441A>G | gnomAD v4 |
| 16 | g.53645922T>G | CA395914733 | RPGRIP1L | c.2386A>C (p.Ile796Leu) n.2810A>C c.2398A>C (p.Ile800Leu) c.631A>C (p.Ile211Leu) n.2430A>C n.2441A>C | |
| 16 | g.53645923T>A | CA495784463 | RPGRIP1L | c.2385A>T (p.Thr795=) n.2809A>T c.2397A>T (p.Thr799=) c.630A>T (p.Thr210=) n.2429A>T n.2440A>T | |
| 16 | g.53645923T>C | CA495784464 | RPGRIP1L | c.2385A>G (p.Thr795=) n.2809A>G c.2397A>G (p.Thr799=) c.630A>G (p.Thr210=) n.2429A>G n.2440A>G | |
| 16 | g.53645923T>G | CA495784465 | RPGRIP1L | c.2385A>C (p.Thr795=) n.2809A>C c.2397A>C (p.Thr799=) c.630A>C (p.Thr210=) n.2429A>C n.2440A>C | |
| 16 | g.53645924G>A | CA8057556 | RPGRIP1L | c.2384C>T (p.Thr795Ile) n.2808C>T c.2396C>T (p.Thr799Ile) c.629C>T (p.Thr210Ile) n.2428C>T n.2439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53645924G>C | CA395914734 | RPGRIP1L | c.2384C>G (p.Thr795Arg) n.2808C>G c.2396C>G (p.Thr799Arg) c.629C>G (p.Thr210Arg) n.2428C>G n.2439C>G | |
| 16 | g.53645924G= | CA2223254588 | RPGRIP1L | c.2384C= (p.Thr795=) n.2808C= c.2396C= (p.Thr799=) c.629C= (p.Thr210=) n.2428C= n.2439C= | |
| 16 | g.53645924G>T | CA395914735 | RPGRIP1L | c.2384C>A (p.Thr795Lys) n.2808C>A c.2396C>A (p.Thr799Lys) c.629C>A (p.Thr210Lys) n.2428C>A n.2439C>A | |
| 16 | g.53645925T>A | CA395914736 | RPGRIP1L | c.2383A>T (p.Thr795Ser) n.2807A>T c.2395A>T (p.Thr799Ser) c.628A>T (p.Thr210Ser) n.2427A>T n.2438A>T | |
| 16 | g.53645925T>C | CA395914738 | RPGRIP1L | c.2383A>G (p.Thr795Ala) n.2807A>G c.2395A>G (p.Thr799Ala) c.628A>G (p.Thr210Ala) n.2427A>G n.2438A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53645925T>G | CA395914737 | RPGRIP1L | c.2383A>C (p.Thr795Pro) n.2807A>C c.2395A>C (p.Thr799Pro) c.628A>C (p.Thr210Pro) n.2427A>C n.2438A>C | gnomAD v4 |
| 16 | g.53645925T= | CA2223254598 | RPGRIP1L | c.2383A= (p.Thr795=) n.2807A= c.2395A= (p.Thr799=) c.628A= (p.Thr210=) n.2427A= n.2438A= | |
| 16 | g.53645926A>C | CA395914739 | RPGRIP1L | c.2382T>G (p.Ile794Met) n.2806T>G c.2394T>G (p.Ile798Met) c.627T>G (p.Ile209Met) n.2426T>G n.2437T>G | |
| 16 | g.53645926A>G | CA495784470 | RPGRIP1L | c.2382T>C (p.Ile794=) n.2806T>C c.2394T>C (p.Ile798=) c.627T>C (p.Ile209=) n.2426T>C n.2437T>C | |
| 16 | g.53645926A>T | CA495784469 | RPGRIP1L | c.2382T>A (p.Ile794=) n.2806T>A c.2394T>A (p.Ile798=) c.627T>A (p.Ile209=) n.2426T>A n.2437T>A | gnomAD v4 |
| 16 | g.53645927A>C | CA395914740 | RPGRIP1L | c.2381T>G (p.Ile794Ser) n.2805T>G c.2393T>G (p.Ile798Ser) c.626T>G (p.Ile209Ser) n.2425T>G n.2436T>G | |
| 16 | g.53645927A>G | CA395914741 | RPGRIP1L | c.2381T>C (p.Ile794Thr) n.2805T>C c.2393T>C (p.Ile798Thr) c.626T>C (p.Ile209Thr) n.2425T>C n.2436T>C | ClinVar dbSNP |
| 16 | g.53645927A>T | CA395914742 | RPGRIP1L | c.2381T>A (p.Ile794Asn) n.2805T>A c.2393T>A (p.Ile798Asn) c.626T>A (p.Ile209Asn) n.2425T>A n.2436T>A | |
| 16 | g.53645928T>A | CA395914744 | RPGRIP1L | c.2380A>T (p.Ile794Phe) n.2804A>T c.2392A>T (p.Ile798Phe) c.625A>T (p.Ile209Phe) n.2424A>T n.2435A>T | |
| 16 | g.53645928T>C | CA8057557 | RPGRIP1L | c.2380A>G (p.Ile794Val) n.2804A>G c.2392A>G (p.Ile798Val) c.625A>G (p.Ile209Val) n.2424A>G n.2435A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645928T>G | CA395914743 | RPGRIP1L | c.2380A>C (p.Ile794Leu) n.2804A>C c.2392A>C (p.Ile798Leu) c.625A>C (p.Ile209Leu) n.2424A>C n.2435A>C | |
| 16 | g.53645928T= | CA2223254607 | RPGRIP1L | c.2380A= (p.Ile794=) n.2804A= c.2392A= (p.Ile798=) c.625A= (p.Ile209=) n.2424A= n.2435A= | |
| 16 | g.53645929G>A | CA495784471 | RPGRIP1L | c.2379C>T (p.His793=) n.2803C>T c.2391C>T (p.His797=) c.624C>T (p.His208=) n.2423C>T n.2434C>T | ClinVar dbSNP |
| 16 | g.53645929G>C | CA395914745 | RPGRIP1L | c.2379C>G (p.His793Gln) n.2803C>G c.2391C>G (p.His797Gln) c.624C>G (p.His208Gln) n.2423C>G n.2434C>G | |
| 16 | g.53645929G= | CA2223254614 | RPGRIP1L | c.2379C= (p.His793=) n.2803C= c.2391C= (p.His797=) c.624C= (p.His208=) n.2423C= n.2434C= | |
| 16 | g.53645929G>T | CA395914746 | RPGRIP1L | c.2379C>A (p.His793Gln) n.2803C>A c.2391C>A (p.His797Gln) c.624C>A (p.His208Gln) n.2423C>A n.2434C>A | |
| 16 | g.53645930T>A | CA395914747 | RPGRIP1L | c.2378A>T (p.His793Leu) n.2802A>T c.2390A>T (p.His797Leu) c.623A>T (p.His208Leu) n.2422A>T n.2433A>T | |
| 16 | g.53645930T>C | CA395914748 | RPGRIP1L | c.2378A>G (p.His793Arg) n.2802A>G c.2390A>G (p.His797Arg) c.623A>G (p.His208Arg) n.2422A>G n.2433A>G | |
| 16 | g.53645930T>G | CA395914749 | RPGRIP1L | c.2378A>C (p.His793Pro) n.2802A>C c.2390A>C (p.His797Pro) c.623A>C (p.His208Pro) n.2422A>C n.2433A>C | |
| 16 | g.53645931G>A | CA395914750 | RPGRIP1L | c.2377C>T (p.His793Tyr) n.2801C>T c.2389C>T (p.His797Tyr) c.622C>T (p.His208Tyr) n.2421C>T n.2432C>T | |
| 16 | g.53645931G>C | CA395914751 | RPGRIP1L | c.2377C>G (p.His793Asp) n.2801C>G c.2389C>G (p.His797Asp) c.622C>G (p.His208Asp) n.2421C>G n.2432C>G | |
| 16 | g.53645931G>T | CA395914752 | RPGRIP1L | c.2377C>A (p.His793Asn) n.2801C>A c.2389C>A (p.His797Asn) c.622C>A (p.His208Asn) n.2421C>A n.2432C>A | gnomAD v4 |
| 16 | g.53645932A>C | CA495784472 | RPGRIP1L | c.2376T>G (p.Leu792=) n.2800T>G c.2388T>G (p.Leu796=) c.621T>G (p.Leu207=) n.2420T>G n.2431T>G | |
| 16 | g.53645932A>G | CA495784473 | RPGRIP1L | c.2376T>C (p.Leu792=) n.2800T>C c.2388T>C (p.Leu796=) c.621T>C (p.Leu207=) n.2420T>C n.2431T>C | dbSNP gnomAD v4 |
| 16 | g.53645932A>T | CA495784474 | RPGRIP1L | c.2376T>A (p.Leu792=) n.2800T>A c.2388T>A (p.Leu796=) c.621T>A (p.Leu207=) n.2420T>A n.2431T>A | |
| 16 | g.53645933A>C | CA395914755 | RPGRIP1L | c.2375T>G (p.Leu792Arg) n.2799T>G c.2387T>G (p.Leu796Arg) c.620T>G (p.Leu207Arg) n.2419T>G n.2430T>G | gnomAD v4 |
| 16 | g.53645933A>G | CA395914753 | RPGRIP1L | c.2375T>C (p.Leu792Pro) n.2799T>C c.2387T>C (p.Leu796Pro) c.620T>C (p.Leu207Pro) n.2419T>C n.2430T>C | gnomAD v4 |
| 16 | g.53645933A>T | CA395914754 | RPGRIP1L | c.2375T>A (p.Leu792His) n.2799T>A c.2387T>A (p.Leu796His) c.620T>A (p.Leu207His) n.2419T>A n.2430T>A | gnomAD v4 |
| 16 | g.53645934G>A | CA395914756 | RPGRIP1L | c.2374C>T (p.Leu792Phe) n.2798C>T c.2386C>T (p.Leu796Phe) c.619C>T (p.Leu207Phe) n.2418C>T n.2429C>T | gnomAD v4 |
| 16 | g.53645934G>C | CA395914757 | RPGRIP1L | c.2374C>G (p.Leu792Val) n.2798C>G c.2386C>G (p.Leu796Val) c.619C>G (p.Leu207Val) n.2418C>G n.2429C>G | |
| 16 | g.53645934G>T | CA395914758 | RPGRIP1L | c.2374C>A (p.Leu792Ile) n.2798C>A c.2386C>A (p.Leu796Ile) c.619C>A (p.Leu207Ile) n.2418C>A n.2429C>A | |
| 16 | g.53645935T>A | CA395914759 | RPGRIP1L | c.2373A>T (p.Glu791Asp) n.2797A>T c.2385A>T (p.Glu795Asp) c.618A>T (p.Glu206Asp) n.2417A>T n.2428A>T | |
| 16 | g.53645935T>C | CA495784478 | RPGRIP1L | c.2373A>G (p.Glu791=) n.2797A>G c.2385A>G (p.Glu795=) c.618A>G (p.Glu206=) n.2417A>G n.2428A>G | |
| 16 | g.53645935T>G | CA395914760 | RPGRIP1L | c.2373A>C (p.Glu791Asp) n.2797A>C c.2385A>C (p.Glu795Asp) c.618A>C (p.Glu206Asp) n.2417A>C n.2428A>C | |
| 16 | g.53645936T>A | CA395914762 | RPGRIP1L | c.2372A>T (p.Glu791Val) n.2796A>T c.2384A>T (p.Glu795Val) c.617A>T (p.Glu206Val) n.2416A>T n.2427A>T | |
| 16 | g.53645936T>C | CA281339445 | RPGRIP1L | c.2372A>G (p.Glu791Gly) n.2796A>G c.2384A>G (p.Glu795Gly) c.617A>G (p.Glu206Gly) n.2416A>G n.2427A>G | dbSNP |
| 16 | g.53645936T>G | CA395914761 | RPGRIP1L | c.2372A>C (p.Glu791Ala) n.2796A>C c.2384A>C (p.Glu795Ala) c.617A>C (p.Glu206Ala) n.2416A>C n.2427A>C | |
| 16 | g.53645936T= | CA2223254619 | RPGRIP1L | c.2372A= (p.Glu791=) n.2796A= c.2384A= (p.Glu795=) c.617A= (p.Glu206=) n.2416A= n.2427A= | |
| 16 | g.53645937C>A | CA395914763 | RPGRIP1L | c.2371G>T (p.Glu791Ter) n.2795G>T c.2383G>T (p.Glu795Ter) c.616G>T (p.Glu206Ter) n.2415G>T n.2426G>T | |
| 16 | g.53645937C= | CA2223254625 | RPGRIP1L | c.2371G= (p.Glu791=) n.2795G= c.2383G= (p.Glu795=) c.616G= (p.Glu206=) n.2415G= n.2426G= | |
| 16 | g.53645937C>G | CA281339475 | RPGRIP1L | c.2371G>C (p.Glu791Gln) n.2795G>C c.2383G>C (p.Glu795Gln) c.616G>C (p.Glu206Gln) n.2415G>C n.2426G>C | dbSNP gnomAD v4 |
| 16 | g.53645937C>T | CA395914764 | RPGRIP1L | c.2371G>A (p.Glu791Lys) n.2795G>A c.2383G>A (p.Glu795Lys) c.616G>A (p.Glu206Lys) n.2415G>A n.2426G>A | |
| 16 | g.53645937_53645938insTGTACAG | CA8057558 | RPGRIP1L | c.2370_2371insCTGTACA (p.Glu791LeufsTer?) n.2794_2795insCTGTACA c.2382_2383insCTGTACA (p.Glu795LeufsTer?) c.615_616insCTGTACA (p.Glu206LeufsTer?) n.2414_2415insCTGTACA n.2425_2426insCTGTACA | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645938A>C | CA395914765 | RPGRIP1L | c.2370T>G (p.Asn790Lys) n.2794T>G c.2382T>G (p.Asn794Lys) c.615T>G (p.Asn205Lys) n.2414T>G n.2425T>G | |
| 16 | g.53645938A>G | CA495784481 | RPGRIP1L | c.2370T>C (p.Asn790=) n.2794T>C c.2382T>C (p.Asn794=) c.615T>C (p.Asn205=) n.2414T>C n.2425T>C | ClinVar dbSNP |
| 16 | g.53645938A>T | CA395914766 | RPGRIP1L | c.2370T>A (p.Asn790Lys) n.2794T>A c.2382T>A (p.Asn794Lys) c.615T>A (p.Asn205Lys) n.2414T>A n.2425T>A | |
| 16 | g.53645939T>A | CA395914767 | RPGRIP1L | c.2369A>T (p.Asn790Ile) n.2793A>T c.2381A>T (p.Asn794Ile) c.614A>T (p.Asn205Ile) n.2413A>T n.2424A>T | |
| 16 | g.53645939T>C | CA395914768 | RPGRIP1L | c.2369A>G (p.Asn790Ser) n.2793A>G c.2381A>G (p.Asn794Ser) c.614A>G (p.Asn205Ser) n.2413A>G n.2424A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53645939T>G | CA395914769 | RPGRIP1L | c.2369A>C (p.Asn790Thr) n.2793A>C c.2381A>C (p.Asn794Thr) c.614A>C (p.Asn205Thr) n.2413A>C n.2424A>C | |
| 16 | g.53645939T= | CA2223254636 | RPGRIP1L | c.2369A= (p.Asn790=) n.2793A= c.2381A= (p.Asn794=) c.614A= (p.Asn205=) n.2413A= n.2424A= | |
| 16 | g.53645940T>A | CA395914770 | RPGRIP1L | c.2368A>T (p.Asn790Tyr) n.2792A>T c.2380A>T (p.Asn794Tyr) c.613A>T (p.Asn205Tyr) n.2412A>T n.2423A>T | |
| 16 | g.53645940T>C | CA395914771 | RPGRIP1L | c.2368A>G (p.Asn790Asp) n.2792A>G c.2380A>G (p.Asn794Asp) c.613A>G (p.Asn205Asp) n.2412A>G n.2423A>G | |
| 16 | g.53645940T>G | CA395914772 | RPGRIP1L | c.2368A>C (p.Asn790His) n.2792A>C c.2380A>C (p.Asn794His) c.613A>C (p.Asn205His) n.2412A>C n.2423A>C | |
| 16 | g.53645940T= | CA2223254640 | RPGRIP1L | c.2368A= (p.Asn790=) n.2792A= c.2380A= (p.Asn794=) c.613A= (p.Asn205=) n.2412A= n.2423A= | |
| 16 | g.53645940_53645954delinsTTAAGTTGCCATCTG | CA2223254641 | RPGRIP1L | c.2354_2368delinsCAGATGGCAACTTAA (p.Thr785=) n.2778_2792delinsCAGATGGCAACTTAA c.2366_2380delinsCAGATGGCAACTTAA (p.Thr789=) c.599_613delinsCAGATGGCAACTTAA (p.Thr200=) n.2398_2412delinsCAGATGGCAACTTAA n.2409_2423delinsCAGATGGCAACTTAA | |
| 16 | g.53645940_53645941insC | CA8057559 | RPGRIP1L | c.2367_2368insG (p.Asn790GlufsTer2) n.2791_2792insG c.2379_2380insG (p.Asn794GlufsTer2) c.612_613insG (p.Asn205GlufsTer2) n.2411_2412insG n.2422_2423insG | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645940_53645941insG | CA2575994585 | RPGRIP1L | c.2367_2368insC (p.Asn790GlnfsTer2) n.2791_2792insC c.2379_2380insC (p.Asn794GlnfsTer2) c.612_613insC (p.Asn205GlnfsTer2) n.2411_2412insC n.2422_2423insC | gnomAD v4 |
| 16 | g.53645941T>A | CA395914774 | RPGRIP1L | c.2367A>T (p.Leu789Phe) n.2791A>T c.2379A>T (p.Leu793Phe) c.612A>T (p.Leu204Phe) n.2411A>T n.2422A>T | |
| 16 | g.53645941T>C | CA495784482 | RPGRIP1L | c.2367A>G (p.Leu789=) n.2791A>G c.2379A>G (p.Leu793=) c.612A>G (p.Leu204=) n.2411A>G n.2422A>G | |
| 16 | g.53645941T>G | CA395914773 | RPGRIP1L | c.2367A>C (p.Leu789Phe) n.2791A>C c.2379A>C (p.Leu793Phe) c.612A>C (p.Leu204Phe) n.2411A>C n.2422A>C | |
| 16 | g.53645941_53645954delinsGTAA | CA1139664699 | RPGRIP1L | c.2354_2367delinsTTAC (p.Thr785IlefsTer9) n.2778_2791delinsTTAC c.2366_2379delinsTTAC (p.Thr789IlefsTer9) c.599_612delinsTTAC (p.Thr200IlefsTer9) n.2398_2411delinsTTAC n.2409_2422delinsTTAC | ClinVar dbSNP |
| 16 | g.53645942A= | CA2223254647 | RPGRIP1L | c.2366T= (p.Leu789=) n.2790T= c.2378T= (p.Leu793=) c.611T= (p.Leu204=) n.2410T= n.2421T= | |
| 16 | g.53645942A>C | CA395914775 | RPGRIP1L | c.2366T>G (p.Leu789Ter) n.2790T>G c.2378T>G (p.Leu793Ter) c.611T>G (p.Leu204Ter) n.2410T>G n.2421T>G | |
| 16 | g.53645942A>G | CA395914776 | RPGRIP1L | c.2366T>C (p.Leu789Ser) n.2790T>C c.2378T>C (p.Leu793Ser) c.611T>C (p.Leu204Ser) n.2410T>C n.2421T>C | |
| 16 | g.53645942A>T | CA395914777 | RPGRIP1L | c.2366T>A (p.Leu789Ter) n.2790T>A c.2378T>A (p.Leu793Ter) c.611T>A (p.Leu204Ter) n.2410T>A n.2421T>A | |
| 16 | g.53645942_53645943insC | CA8057560 | RPGRIP1L | c.2365_2366insG (p.Leu789CysfsTer3) n.2789_2790insG c.2377_2378insG (p.Leu793CysfsTer3) c.610_611insG (p.Leu204CysfsTer3) n.2409_2410insG n.2420_2421insG | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645943A>C | CA395914778 | RPGRIP1L | c.2365T>G (p.Leu789Val) n.2789T>G c.2377T>G (p.Leu793Val) c.610T>G (p.Leu204Val) n.2409T>G n.2420T>G | gnomAD v4 |
| 16 | g.53645943A>G | CA495784484 | RPGRIP1L | c.2365T>C (p.Leu789=) n.2789T>C c.2377T>C (p.Leu793=) c.610T>C (p.Leu204=) n.2409T>C n.2420T>C | |
| 16 | g.53645943A>T | CA395914779 | RPGRIP1L | c.2365T>A (p.Leu789Ile) n.2789T>A c.2377T>A (p.Leu793Ile) c.610T>A (p.Leu204Ile) n.2409T>A n.2420T>A | |
| 16 | g.53645944G>A | CA8057562 | RPGRIP1L | c.2364C>T (p.Asn788=) n.2788C>T c.2376C>T (p.Asn792=) c.609C>T (p.Asn203=) n.2408C>T n.2419C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53645944G>C | CA395914780 | RPGRIP1L | c.2364C>G (p.Asn788Lys) n.2788C>G c.2376C>G (p.Asn792Lys) c.609C>G (p.Asn203Lys) n.2408C>G n.2419C>G | |
| 16 | g.53645944G= | CA2223254653 | RPGRIP1L | c.2364C= (p.Asn788=) n.2788C= c.2376C= (p.Asn792=) c.609C= (p.Asn203=) n.2408C= n.2419C= | |
| 16 | g.53645944G>T | CA8057561 | RPGRIP1L | c.2364C>A (p.Asn788Lys) n.2788C>A c.2376C>A (p.Asn792Lys) c.609C>A (p.Asn203Lys) n.2408C>A n.2419C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645944_53645954del | CA2575994586 | RPGRIP1L | c.2354_2364del (p.Thr785IlefsTer3) n.2778_2788del c.2366_2376del (p.Thr789IlefsTer3) c.599_609del (p.Thr200IlefsTer3) n.2398_2408del n.2409_2419del | gnomAD v4 |
| 16 | g.53645945T>A | CA8057563 | RPGRIP1L | c.2363A>T (p.Asn788Ile) n.2787A>T c.2375A>T (p.Asn792Ile) c.608A>T (p.Asn203Ile) n.2407A>T n.2418A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645945T>C | CA395914781 | RPGRIP1L | c.2363A>G (p.Asn788Ser) n.2787A>G c.2375A>G (p.Asn792Ser) c.608A>G (p.Asn203Ser) n.2407A>G n.2418A>G | gnomAD v4 |
| 16 | g.53645945T>G | CA395914782 | RPGRIP1L | c.2363A>C (p.Asn788Thr) n.2787A>C c.2375A>C (p.Asn792Thr) c.608A>C (p.Asn203Thr) n.2407A>C n.2418A>C | |
| 16 | g.53645945T= | CA2223254658 | RPGRIP1L | c.2363A= (p.Asn788=) n.2787A= c.2375A= (p.Asn792=) c.608A= (p.Asn203=) n.2407A= n.2418A= | |
| 16 | g.53645946T>A | CA8057564 | RPGRIP1L | c.2362A>T (p.Asn788Tyr) n.2786A>T c.2374A>T (p.Asn792Tyr) c.607A>T (p.Asn203Tyr) n.2406A>T n.2417A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645946T>C | CA395914783 | RPGRIP1L | c.2362A>G (p.Asn788Asp) n.2786A>G c.2374A>G (p.Asn792Asp) c.607A>G (p.Asn203Asp) n.2406A>G n.2417A>G | gnomAD v4 |
| 16 | g.53645946T>G | CA395914784 | RPGRIP1L | c.2362A>C (p.Asn788His) n.2786A>C c.2374A>C (p.Asn792His) c.607A>C (p.Asn203His) n.2406A>C n.2417A>C | |
| 16 | g.53645946T= | CA2223254661 | RPGRIP1L | c.2362A= (p.Asn788=) n.2786A= c.2374A= (p.Asn792=) c.607A= (p.Asn203=) n.2406A= n.2417A= | |
| 16 | g.53645947G>A | CA495784487 | RPGRIP1L | c.2361C>T (p.Gly787=) n.2785C>T c.2373C>T (p.Gly791=) c.606C>T (p.Gly202=) n.2405C>T n.2416C>T | |
| 16 | g.53645947G>C | CA495784488 | RPGRIP1L | c.2361C>G (p.Gly787=) n.2785C>G c.2373C>G (p.Gly791=) c.606C>G (p.Gly202=) n.2405C>G n.2416C>G | |
| 16 | g.53645947G= | CA2223254664 | RPGRIP1L | c.2361C= (p.Gly787=) n.2785C= c.2373C= (p.Gly791=) c.606C= (p.Gly202=) n.2405C= n.2416C= | |
| 16 | g.53645947G>T | CA495784489 | RPGRIP1L | c.2361C>A (p.Gly787=) n.2785C>A c.2373C>A (p.Gly791=) c.606C>A (p.Gly202=) n.2405C>A n.2416C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53645948C>A | CA395914785 | RPGRIP1L | c.2360G>T (p.Gly787Val) n.2784G>T c.2372G>T (p.Gly791Val) c.605G>T (p.Gly202Val) n.2404G>T n.2415G>T | |
| 16 | g.53645948C= | CA2223254668 | RPGRIP1L | c.2360G= (p.Gly787=) n.2784G= c.2372G= (p.Gly791=) c.605G= (p.Gly202=) n.2404G= n.2415G= | |
| 16 | g.53645948C>G | CA281339513 | RPGRIP1L | c.2360G>C (p.Gly787Ala) n.2784G>C c.2372G>C (p.Gly791Ala) c.605G>C (p.Gly202Ala) n.2404G>C n.2415G>C | ClinVar dbSNP |
| 16 | g.53645948C>T | CA395914786 | RPGRIP1L | c.2360G>A (p.Gly787Asp) n.2784G>A c.2372G>A (p.Gly791Asp) c.605G>A (p.Gly202Asp) n.2404G>A n.2415G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.53645949C>A | CA395914787 | RPGRIP1L | c.2359G>T (p.Gly787Cys) n.2783G>T c.2371G>T (p.Gly791Cys) c.604G>T (p.Gly202Cys) n.2403G>T n.2414G>T | |
| 16 | g.53645949C>G | CA395914788 | RPGRIP1L | c.2359G>C (p.Gly787Arg) n.2783G>C c.2371G>C (p.Gly791Arg) c.604G>C (p.Gly202Arg) n.2403G>C n.2414G>C | |
| 16 | g.53645949C>T | CA395914789 | RPGRIP1L | c.2359G>A (p.Gly787Ser) n.2783G>A c.2371G>A (p.Gly791Ser) c.604G>A (p.Gly202Ser) n.2403G>A n.2414G>A | |
| 16 | g.53645950A= | CA2223254672 | RPGRIP1L | c.2358T= (p.Asp786=) n.2782T= c.2370T= (p.Asp790=) c.603T= (p.Asp201=) n.2402T= n.2413T= | |
| 16 | g.53645950A>C | CA395914790 | RPGRIP1L | c.2358T>G (p.Asp786Glu) n.2782T>G c.2370T>G (p.Asp790Glu) c.603T>G (p.Asp201Glu) n.2402T>G n.2413T>G | |
| 16 | g.53645950A>G | CA495784490 | RPGRIP1L | c.2358T>C (p.Asp786=) n.2782T>C c.2370T>C (p.Asp790=) c.603T>C (p.Asp201=) n.2402T>C n.2413T>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.53645950A>T | CA395914791 | RPGRIP1L | c.2358T>A (p.Asp786Glu) n.2782T>A c.2370T>A (p.Asp790Glu) c.603T>A (p.Asp201Glu) n.2402T>A n.2413T>A | gnomAD v4 |
| 16 | g.53645951T>A | CA395914792 | RPGRIP1L | c.2357A>T (p.Asp786Val) n.2781A>T c.2369A>T (p.Asp790Val) c.602A>T (p.Asp201Val) n.2401A>T n.2412A>T | |
| 16 | g.53645951T>C | CA281339520 | RPGRIP1L | c.2357A>G (p.Asp786Gly) n.2781A>G c.2369A>G (p.Asp790Gly) c.602A>G (p.Asp201Gly) n.2401A>G n.2412A>G | dbSNP |
| 16 | g.53645951T>G | CA395914793 | RPGRIP1L | c.2357A>C (p.Asp786Ala) n.2781A>C c.2369A>C (p.Asp790Ala) c.602A>C (p.Asp201Ala) n.2401A>C n.2412A>C | |
| 16 | g.53645951T= | CA2223254678 | RPGRIP1L | c.2357A= (p.Asp786=) n.2781A= c.2369A= (p.Asp790=) c.602A= (p.Asp201=) n.2401A= n.2412A= | |
| 16 | g.53645952C>A | CA395914795 | RPGRIP1L | c.2356G>T (p.Asp786Tyr) n.2780G>T c.2368G>T (p.Asp790Tyr) c.601G>T (p.Asp201Tyr) n.2400G>T n.2411G>T | |
| 16 | g.53645952C>G | CA395914796 | RPGRIP1L | c.2356G>C (p.Asp786His) n.2780G>C c.2368G>C (p.Asp790His) c.601G>C (p.Asp201His) n.2400G>C n.2411G>C | |
| 16 | g.53645952C>T | CA395914794 | RPGRIP1L | c.2356G>A (p.Asp786Asn) n.2780G>A c.2368G>A (p.Asp790Asn) c.601G>A (p.Asp201Asn) n.2400G>A n.2411G>A | |
| 16 | g.53645953T>A | CA495784491 | RPGRIP1L | c.2355A>T (p.Thr785=) n.2779A>T c.2367A>T (p.Thr789=) c.600A>T (p.Thr200=) n.2399A>T n.2410A>T | |
| 16 | g.53645953T>C | CA495784492 | RPGRIP1L | c.2355A>G (p.Thr785=) n.2779A>G c.2367A>G (p.Thr789=) c.600A>G (p.Thr200=) n.2399A>G n.2410A>G | |
| 16 | g.53645953T>G | CA495784493 | RPGRIP1L | c.2355A>C (p.Thr785=) n.2779A>C c.2367A>C (p.Thr789=) c.600A>C (p.Thr200=) n.2399A>C n.2410A>C | |
| 16 | g.53645954G>A | CA395914799 | RPGRIP1L | c.2354C>T (p.Thr785Ile) n.2778C>T c.2366C>T (p.Thr789Ile) c.599C>T (p.Thr200Ile) n.2398C>T n.2409C>T | dbSNP |
| 16 | g.53645954G>C | CA395914797 | RPGRIP1L | c.2354C>G (p.Thr785Arg) n.2778C>G c.2366C>G (p.Thr789Arg) c.599C>G (p.Thr200Arg) n.2398C>G n.2409C>G | |
| 16 | g.53645954G= | CA2223254685 | RPGRIP1L | c.2354C= (p.Thr785=) n.2778C= c.2366C= (p.Thr789=) c.599C= (p.Thr200=) n.2398C= n.2409C= | |
| 16 | g.53645954G>T | CA395914798 | RPGRIP1L | c.2354C>A (p.Thr785Lys) n.2778C>A c.2366C>A (p.Thr789Lys) c.599C>A (p.Thr200Lys) n.2398C>A n.2409C>A | |
| 16 | g.53645954_53645967del | CA2633237911 | RPGRIP1L | c.2341_2354del (p.Ser781ArgfsTer6) n.2765_2778del c.2353_2366del (p.Ser785ArgfsTer6) c.586_599del (p.Ser196ArgfsTer6) n.2385_2398del n.2396_2409del | gnomAD v4 |
| 16 | g.53645955T>A | CA395914800 | RPGRIP1L | c.2353A>T (p.Thr785Ser) n.2777A>T c.2365A>T (p.Thr789Ser) c.598A>T (p.Thr200Ser) n.2397A>T n.2408A>T | |
| 16 | g.53645955T>C | CA395914801 | RPGRIP1L | c.2353A>G (p.Thr785Ala) n.2777A>G c.2365A>G (p.Thr789Ala) c.598A>G (p.Thr200Ala) n.2397A>G n.2408A>G | |
| 16 | g.53645955T>G | CA395914802 | RPGRIP1L | c.2353A>C (p.Thr785Pro) n.2777A>C c.2365A>C (p.Thr789Pro) c.598A>C (p.Thr200Pro) n.2397A>C n.2408A>C | |
| 16 | g.53645956G>A | CA495784497 | RPGRIP1L | c.2352C>T (p.Ser784=) n.2776C>T c.2364C>T (p.Ser788=) c.597C>T (p.Ser199=) n.2396C>T n.2407C>T | |
| 16 | g.53645956G>C | CA495784496 | RPGRIP1L | c.2352C>G (p.Ser784=) n.2776C>G c.2364C>G (p.Ser788=) c.597C>G (p.Ser199=) n.2396C>G n.2407C>G | |
| 16 | g.53645956G>T | CA495784495 | RPGRIP1L | c.2352C>A (p.Ser784=) n.2776C>A c.2364C>A (p.Ser788=) c.597C>A (p.Ser199=) n.2396C>A n.2407C>A | ClinVar |
| 16 | g.53645957G>A | CA395914803 | RPGRIP1L | c.2351C>T (p.Ser784Phe) n.2775C>T c.2363C>T (p.Ser788Phe) c.596C>T (p.Ser199Phe) n.2395C>T n.2406C>T | gnomAD v4 COSMIC |
| 16 | g.53645957G>C | CA395914804 | RPGRIP1L | c.2351C>G (p.Ser784Cys) n.2775C>G c.2363C>G (p.Ser788Cys) c.596C>G (p.Ser199Cys) n.2395C>G n.2406C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53645957G= | CA2223254692 | RPGRIP1L | c.2351C= (p.Ser784=) n.2775C= c.2363C= (p.Ser788=) c.596C= (p.Ser199=) n.2395C= n.2406C= | |
| 16 | g.53645957G>T | CA395914805 | RPGRIP1L | c.2351C>A (p.Ser784Tyr) n.2775C>A c.2363C>A (p.Ser788Tyr) c.596C>A (p.Ser199Tyr) n.2395C>A n.2406C>A | |
| 16 | g.53645958A>C | CA395914806 | RPGRIP1L | c.2350T>G (p.Ser784Ala) n.2774T>G c.2362T>G (p.Ser788Ala) c.595T>G (p.Ser199Ala) n.2394T>G n.2405T>G | gnomAD v4 |
| 16 | g.53645958A>G | CA395914807 | RPGRIP1L | c.2350T>C (p.Ser784Pro) n.2774T>C c.2362T>C (p.Ser788Pro) c.595T>C (p.Ser199Pro) n.2394T>C n.2405T>C | |
| 16 | g.53645958A>T | CA395914808 | RPGRIP1L | c.2350T>A (p.Ser784Thr) n.2774T>A c.2362T>A (p.Ser788Thr) c.595T>A (p.Ser199Thr) n.2394T>A n.2405T>A | |
| 16 | g.53645959A= | CA2223254699 | RPGRIP1L | c.2349T= (p.Asp783=) n.2773T= c.2361T= (p.Asp787=) c.594T= (p.Asp198=) n.2393T= n.2404T= | |
| 16 | g.53645959A>C | CA395914809 | RPGRIP1L | c.2349T>G (p.Asp783Glu) n.2773T>G c.2361T>G (p.Asp787Glu) c.594T>G (p.Asp198Glu) n.2393T>G n.2404T>G | |
| 16 | g.53645959A>G | CA495784498 | RPGRIP1L | c.2349T>C (p.Asp783=) n.2773T>C c.2361T>C (p.Asp787=) c.594T>C (p.Asp198=) n.2393T>C n.2404T>C | ClinVar dbSNP gnomAD v4 |
| 16 | g.53645959A>T | CA395914810 | RPGRIP1L | c.2349T>A (p.Asp783Glu) n.2773T>A c.2361T>A (p.Asp787Glu) c.594T>A (p.Asp198Glu) n.2393T>A n.2404T>A | |
| 16 | g.53645960T>A | CA395914813 | RPGRIP1L | c.2348A>T (p.Asp783Val) n.2772A>T c.2360A>T (p.Asp787Val) c.593A>T (p.Asp198Val) n.2392A>T n.2403A>T | |
| 16 | g.53645960T>C | CA395914811 | RPGRIP1L | c.2348A>G (p.Asp783Gly) n.2772A>G c.2360A>G (p.Asp787Gly) c.593A>G (p.Asp198Gly) n.2392A>G n.2403A>G | |
| 16 | g.53645960T>G | CA395914812 | RPGRIP1L | c.2348A>C (p.Asp783Ala) n.2772A>C c.2360A>C (p.Asp787Ala) c.593A>C (p.Asp198Ala) n.2392A>C n.2403A>C | |
| 16 | g.53645961C>A | CA395914814 | RPGRIP1L | c.2347G>T (p.Asp783Tyr) n.2771G>T c.2359G>T (p.Asp787Tyr) c.592G>T (p.Asp198Tyr) n.2391G>T n.2402G>T | |
| 16 | g.53645961C>G | CA395914815 | RPGRIP1L | c.2347G>C (p.Asp783His) n.2771G>C c.2359G>C (p.Asp787His) c.592G>C (p.Asp198His) n.2391G>C n.2402G>C | |
| 16 | g.53645961C>T | CA395914816 | RPGRIP1L | c.2347G>A (p.Asp783Asn) n.2771G>A c.2359G>A (p.Asp787Asn) c.592G>A (p.Asp198Asn) n.2391G>A n.2402G>A | |
| 16 | g.53645962T>A | CA495784502 | RPGRIP1L | c.2346A>T (p.Thr782=) n.2770A>T c.2358A>T (p.Thr786=) c.591A>T (p.Thr197=) n.2390A>T n.2401A>T | gnomAD v4 |
| 16 | g.53645962T>C | CA495784503 | RPGRIP1L | c.2346A>G (p.Thr782=) n.2770A>G c.2358A>G (p.Thr786=) c.591A>G (p.Thr197=) n.2390A>G n.2401A>G | ClinVar gnomAD v4 |
| 16 | g.53645962T>G | CA495784504 | RPGRIP1L | c.2346A>C (p.Thr782=) n.2770A>C c.2358A>C (p.Thr786=) c.591A>C (p.Thr197=) n.2390A>C n.2401A>C | |
| 16 | g.53645963G>A | CA395914817 | RPGRIP1L | c.2345C>T (p.Thr782Ile) n.2769C>T c.2357C>T (p.Thr786Ile) c.590C>T (p.Thr197Ile) n.2389C>T n.2400C>T | |
| 16 | g.53645963G>C | CA395914818 | RPGRIP1L | c.2345C>G (p.Thr782Arg) n.2769C>G c.2357C>G (p.Thr786Arg) c.590C>G (p.Thr197Arg) n.2389C>G n.2400C>G | |
| 16 | g.53645963G>T | CA395914819 | RPGRIP1L | c.2345C>A (p.Thr782Lys) n.2769C>A c.2357C>A (p.Thr786Lys) c.590C>A (p.Thr197Lys) n.2389C>A n.2400C>A | |
| 16 | g.53645964T>A | CA395914820 | RPGRIP1L | c.2344A>T (p.Thr782Ser) n.2768A>T c.2356A>T (p.Thr786Ser) c.589A>T (p.Thr197Ser) n.2388A>T n.2399A>T | |
| 16 | g.53645964T>C | CA395914821 | RPGRIP1L | c.2344A>G (p.Thr782Ala) n.2768A>G c.2356A>G (p.Thr786Ala) c.589A>G (p.Thr197Ala) n.2388A>G n.2399A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53645964T>G | CA395914822 | RPGRIP1L | c.2344A>C (p.Thr782Pro) n.2768A>C c.2356A>C (p.Thr786Pro) c.589A>C (p.Thr197Pro) n.2388A>C n.2399A>C | |
| 16 | g.53645964T= | CA2223254706 | RPGRIP1L | c.2344A= (p.Thr782=) n.2768A= c.2356A= (p.Thr786=) c.589A= (p.Thr197=) n.2388A= n.2399A= | |
| 16 | g.53645965A>C | CA495784508 | RPGRIP1L | c.2343T>G (p.Ser781=) n.2767T>G c.2355T>G (p.Ser785=) c.588T>G (p.Ser196=) n.2387T>G n.2398T>G | |
| 16 | g.53645965A>G | CA495784510 | RPGRIP1L | c.2343T>C (p.Ser781=) n.2767T>C c.2355T>C (p.Ser785=) c.588T>C (p.Ser196=) n.2387T>C n.2398T>C | |
| 16 | g.53645965A>T | CA495784512 | RPGRIP1L | c.2343T>A (p.Ser781=) n.2767T>A c.2355T>A (p.Ser785=) c.588T>A (p.Ser196=) n.2387T>A n.2398T>A | |
| 16 | g.53645966G>A | CA395914823 | RPGRIP1L | c.2342C>T (p.Ser781Phe) n.2766C>T c.2354C>T (p.Ser785Phe) c.587C>T (p.Ser196Phe) n.2386C>T n.2397C>T | |
| 16 | g.53645966G>C | CA395914824 | RPGRIP1L | c.2342C>G (p.Ser781Cys) n.2766C>G c.2354C>G (p.Ser785Cys) c.587C>G (p.Ser196Cys) n.2386C>G n.2397C>G | |
| 16 | g.53645966G>T | CA395914825 | RPGRIP1L | c.2342C>A (p.Ser781Tyr) n.2766C>A c.2354C>A (p.Ser785Tyr) c.587C>A (p.Ser196Tyr) n.2386C>A n.2397C>A | |
| 16 | g.53645967A>C | CA395914828 | RPGRIP1L | c.2341T>G (p.Ser781Ala) n.2765T>G c.2353T>G (p.Ser785Ala) c.586T>G (p.Ser196Ala) n.2385T>G n.2396T>G | |
| 16 | g.53645967A>G | CA395914827 | RPGRIP1L | c.2341T>C (p.Ser781Pro) n.2765T>C c.2353T>C (p.Ser785Pro) c.586T>C (p.Ser196Pro) n.2385T>C n.2396T>C | |
| 16 | g.53645967A>T | CA395914826 | RPGRIP1L | c.2341T>A (p.Ser781Thr) n.2765T>A c.2353T>A (p.Ser785Thr) c.586T>A (p.Ser196Thr) n.2385T>A n.2396T>A | |
| 16 | g.53645968A>C | CA395914829 | RPGRIP1L | c.2340T>G (p.Ser780Arg) n.2764T>G c.2352T>G (p.Ser784Arg) c.585T>G (p.Ser195Arg) n.2384T>G n.2395T>G | |
| 16 | g.53645968A>G | CA495784516 | RPGRIP1L | c.2340T>C (p.Ser780=) n.2764T>C c.2352T>C (p.Ser784=) c.585T>C (p.Ser195=) n.2384T>C n.2395T>C | |
| 16 | g.53645968A>T | CA395914830 | RPGRIP1L | c.2340T>A (p.Ser780Arg) n.2764T>A c.2352T>A (p.Ser784Arg) c.585T>A (p.Ser195Arg) n.2384T>A n.2395T>A | |
| 16 | g.53645969C>A | CA395914831 | RPGRIP1L | c.2339G>T (p.Ser780Ile) n.2763G>T c.2351G>T (p.Ser784Ile) c.584G>T (p.Ser195Ile) n.2383G>T n.2394G>T | |
| 16 | g.53645969C>G | CA395914832 | RPGRIP1L | c.2339G>C (p.Ser780Thr) n.2763G>C c.2351G>C (p.Ser784Thr) c.584G>C (p.Ser195Thr) n.2383G>C n.2394G>C | |
| 16 | g.53645969C>T | CA395914833 | RPGRIP1L | c.2339G>A (p.Ser780Asn) n.2763G>A c.2351G>A (p.Ser784Asn) c.584G>A (p.Ser195Asn) n.2383G>A n.2394G>A | |
| 16 | g.53645970T>A | CA395914834 | RPGRIP1L | c.2338A>T (p.Ser780Cys) n.2762A>T c.2350A>T (p.Ser784Cys) c.583A>T (p.Ser195Cys) n.2382A>T n.2393A>T | dbSNP |
| 16 | g.53645970T>C | CA395914835 | RPGRIP1L | c.2338A>G (p.Ser780Gly) n.2762A>G c.2350A>G (p.Ser784Gly) c.583A>G (p.Ser195Gly) n.2382A>G n.2393A>G | ClinVar |
| 16 | g.53645970T>G | CA395914836 | RPGRIP1L | c.2338A>C (p.Ser780Arg) n.2762A>C c.2350A>C (p.Ser784Arg) c.583A>C (p.Ser195Arg) n.2382A>C n.2393A>C | gnomAD v4 |
| 16 | g.53645970T= | CA2223254711 | RPGRIP1L | c.2338A= (p.Ser780=) n.2762A= c.2350A= (p.Ser784=) c.583A= (p.Ser195=) n.2382A= n.2393A= | |
| 16 | g.53645971G>A | CA495784520 | RPGRIP1L | c.2337C>T (p.Leu779=) n.2761C>T c.2349C>T (p.Leu783=) c.582C>T (p.Leu194=) n.2381C>T n.2392C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53645971G>C | CA495784521 | RPGRIP1L | c.2337C>G (p.Leu779=) n.2761C>G c.2349C>G (p.Leu783=) c.582C>G (p.Leu194=) n.2381C>G n.2392C>G | dbSNP |
| 16 | g.53645971G= | CA2223254715 | RPGRIP1L | c.2337C= (p.Leu779=) n.2761C= c.2349C= (p.Leu783=) c.582C= (p.Leu194=) n.2381C= n.2392C= | |
| 16 | g.53645971G>T | CA495784523 | RPGRIP1L | c.2337C>A (p.Leu779=) n.2761C>A c.2349C>A (p.Leu783=) c.582C>A (p.Leu194=) n.2381C>A n.2392C>A | |
| 16 | g.53645972A>C | CA395914837 | RPGRIP1L | c.2336T>G (p.Leu779Arg) n.2760T>G c.2348T>G (p.Leu783Arg) c.581T>G (p.Leu194Arg) n.2380T>G n.2391T>G | |
| 16 | g.53645972A>G | CA395914838 | RPGRIP1L | c.2336T>C (p.Leu779Pro) n.2760T>C c.2348T>C (p.Leu783Pro) c.581T>C (p.Leu194Pro) n.2380T>C n.2391T>C | |
| 16 | g.53645972A>T | CA395914839 | RPGRIP1L | c.2336T>A (p.Leu779His) n.2760T>A c.2348T>A (p.Leu783His) c.581T>A (p.Leu194His) n.2380T>A n.2391T>A | |
| 16 | g.53645973G>A | CA395914840 | RPGRIP1L | c.2335C>T (p.Leu779Phe) n.2759C>T c.2347C>T (p.Leu783Phe) c.580C>T (p.Leu194Phe) n.2379C>T n.2390C>T | ClinVar |
| 16 | g.53645973G>C | CA395914841 | RPGRIP1L | c.2335C>G (p.Leu779Val) n.2759C>G c.2347C>G (p.Leu783Val) c.580C>G (p.Leu194Val) n.2379C>G n.2390C>G | gnomAD v4 |
| 16 | g.53645973G>T | CA395914842 | RPGRIP1L | c.2335C>A (p.Leu779Ile) n.2759C>A c.2347C>A (p.Leu783Ile) c.580C>A (p.Leu194Ile) n.2379C>A n.2390C>A | |
| 16 | g.53645974_53645976del | CA2633237924 | RPGRIP1L | c.2333_2335del (p.Gln778del) n.2757_2759del c.2345_2347del (p.Gln782del) c.578_580del (p.Gln193del) n.2377_2379del n.2388_2390del | gnomAD v4 |
| 16 | g.53645974T>A | CA395914843 | RPGRIP1L | c.2334A>T (p.Gln778His) n.2758A>T c.2346A>T (p.Gln782His) c.579A>T (p.Gln193His) n.2378A>T n.2389A>T | |
| 16 | g.53645974T>C | CA495784529 | RPGRIP1L | c.2334A>G (p.Gln778=) n.2758A>G c.2346A>G (p.Gln782=) c.579A>G (p.Gln193=) n.2378A>G n.2389A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53645974T>G | CA395914844 | RPGRIP1L | c.2334A>C (p.Gln778His) n.2758A>C c.2346A>C (p.Gln782His) c.579A>C (p.Gln193His) n.2378A>C n.2389A>C | |
| 16 | g.53645974T= | CA2223254719 | RPGRIP1L | c.2334A= (p.Gln778=) n.2758A= c.2346A= (p.Gln782=) c.579A= (p.Gln193=) n.2378A= n.2389A= | |
| 16 | g.53645975T>A | CA395914845 | RPGRIP1L | c.2333A>T (p.Gln778Leu) n.2757A>T c.2345A>T (p.Gln782Leu) c.578A>T (p.Gln193Leu) n.2377A>T n.2388A>T | |
| 16 | g.53645975T>C | CA395914846 | RPGRIP1L | c.2333A>G (p.Gln778Arg) n.2757A>G c.2345A>G (p.Gln782Arg) c.578A>G (p.Gln193Arg) n.2377A>G n.2388A>G | |
| 16 | g.53645975T>G | CA395914847 | RPGRIP1L | c.2333A>C (p.Gln778Pro) n.2757A>C c.2345A>C (p.Gln782Pro) c.578A>C (p.Gln193Pro) n.2377A>C n.2388A>C | |
| 16 | g.53645976G>A | CA395914848 | RPGRIP1L | c.2332C>T (p.Gln778Ter) n.2756C>T c.2344C>T (p.Gln782Ter) c.577C>T (p.Gln193Ter) n.2376C>T n.2387C>T | ClinVar |
| 16 | g.53645976G>C | CA395914849 | RPGRIP1L | c.2332C>G (p.Gln778Glu) n.2756C>G c.2344C>G (p.Gln782Glu) c.577C>G (p.Gln193Glu) n.2376C>G n.2387C>G | |
| 16 | g.53645976G>T | CA395914850 | RPGRIP1L | c.2332C>A (p.Gln778Lys) n.2756C>A c.2344C>A (p.Gln782Lys) c.577C>A (p.Gln193Lys) n.2376C>A n.2387C>A | |
| 16 | g.53645977A>C | CA495784533 | RPGRIP1L | c.2331T>G (p.Ala777=) n.2755T>G c.2343T>G (p.Ala781=) c.576T>G (p.Ala192=) n.2375T>G n.2386T>G | |
| 16 | g.53645977A>G | CA495784534 | RPGRIP1L | c.2331T>C (p.Ala777=) n.2755T>C c.2343T>C (p.Ala781=) c.576T>C (p.Ala192=) n.2375T>C n.2386T>C | |
| 16 | g.53645977A>T | CA495784535 | RPGRIP1L | c.2331T>A (p.Ala777=) n.2755T>A c.2343T>A (p.Ala781=) c.576T>A (p.Ala192=) n.2375T>A n.2386T>A | |
| 16 | g.53645978G>A | CA395914851 | RPGRIP1L | c.2330C>T (p.Ala777Val) n.2754C>T c.2342C>T (p.Ala781Val) c.575C>T (p.Ala192Val) n.2374C>T n.2385C>T | gnomAD v4 |
| 16 | g.53645978G>C | CA395914852 | RPGRIP1L | c.2330C>G (p.Ala777Gly) n.2754C>G c.2342C>G (p.Ala781Gly) c.575C>G (p.Ala192Gly) n.2374C>G n.2385C>G | |
| 16 | g.53645978G>T | CA395914853 | RPGRIP1L | c.2330C>A (p.Ala777Asp) n.2754C>A c.2342C>A (p.Ala781Asp) c.575C>A (p.Ala192Asp) n.2374C>A n.2385C>A | |
| 16 | g.53645979C>A | CA395914854 | RPGRIP1L | c.2329G>T (p.Ala777Ser) n.2753G>T c.2341G>T (p.Ala781Ser) c.574G>T (p.Ala192Ser) n.2373G>T n.2384G>T | |
| 16 | g.53645979C>G | CA395914855 | RPGRIP1L | c.2329G>C (p.Ala777Pro) n.2753G>C c.2341G>C (p.Ala781Pro) c.574G>C (p.Ala192Pro) n.2373G>C n.2384G>C | |
| 16 | g.53645979C>T | CA395914856 | RPGRIP1L | c.2329G>A (p.Ala777Thr) n.2753G>A c.2341G>A (p.Ala781Thr) c.574G>A (p.Ala192Thr) n.2373G>A n.2384G>A | |
| 16 | g.53645980A>C | CA495784536 | RPGRIP1L | c.2328T>G (p.Thr776=) n.2752T>G c.2340T>G (p.Thr780=) c.573T>G (p.Thr191=) n.2372T>G n.2383T>G | |
| 16 | g.53645980A>G | CA495784538 | RPGRIP1L | c.2328T>C (p.Thr776=) n.2752T>C c.2340T>C (p.Thr780=) c.573T>C (p.Thr191=) n.2372T>C n.2383T>C | |
| 16 | g.53645980A>T | CA495784537 | RPGRIP1L | c.2328T>A (p.Thr776=) n.2752T>A c.2340T>A (p.Thr780=) c.573T>A (p.Thr191=) n.2372T>A n.2383T>A | |
| 16 | g.53645981G>A | CA8057565 | RPGRIP1L | c.2327C>T (p.Thr776Ile) n.2751C>T c.2339C>T (p.Thr780Ile) c.572C>T (p.Thr191Ile) n.2371C>T n.2382C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.53645981G>C | CA395914858 | RPGRIP1L | c.2327C>G (p.Thr776Ser) n.2751C>G c.2339C>G (p.Thr780Ser) c.572C>G (p.Thr191Ser) n.2371C>G n.2382C>G | |
| 16 | g.53645981G= | CA2223254729 | RPGRIP1L | c.2327C= (p.Thr776=) n.2751C= c.2339C= (p.Thr780=) c.572C= (p.Thr191=) n.2371C= n.2382C= | |
| 16 | g.53645981G>T | CA395914857 | RPGRIP1L | c.2327C>A (p.Thr776Asn) n.2751C>A c.2339C>A (p.Thr780Asn) c.572C>A (p.Thr191Asn) n.2371C>A n.2382C>A | |
| 16 | g.53645982T>A | CA395914859 | RPGRIP1L | c.2326A>T (p.Thr776Ser) n.2750A>T c.2338A>T (p.Thr780Ser) c.571A>T (p.Thr191Ser) n.2370A>T n.2381A>T | |
| 16 | g.53645982T>C | CA395914861 | RPGRIP1L | c.2326A>G (p.Thr776Ala) n.2750A>G c.2338A>G (p.Thr780Ala) c.571A>G (p.Thr191Ala) n.2370A>G n.2381A>G | |
| 16 | g.53645982T>G | CA395914860 | RPGRIP1L | c.2326A>C (p.Thr776Pro) n.2750A>C c.2338A>C (p.Thr780Pro) c.571A>C (p.Thr191Pro) n.2370A>C n.2381A>C | |
| 16 | g.53645983T>A | CA395914862 | RPGRIP1L | c.2325A>T (p.Lys775Asn) n.2749A>T c.2337A>T (p.Lys779Asn) c.570A>T (p.Lys190Asn) n.2369A>T n.2380A>T | |
| 16 | g.53645983T>C | CA495784542 | RPGRIP1L | c.2325A>G (p.Lys775=) n.2749A>G c.2337A>G (p.Lys779=) c.570A>G (p.Lys190=) n.2369A>G n.2380A>G | |
| 16 | g.53645983T>G | CA395914863 | RPGRIP1L | c.2325A>C (p.Lys775Asn) n.2749A>C c.2337A>C (p.Lys779Asn) c.570A>C (p.Lys190Asn) n.2369A>C n.2380A>C | |
| 16 | g.53645984T>A | CA395914864 | RPGRIP1L | c.2324A>T (p.Lys775Ile) n.2748A>T c.2336A>T (p.Lys779Ile) c.569A>T (p.Lys190Ile) n.2368A>T n.2379A>T | |
| 16 | g.53645984T>C | CA395914867 | RPGRIP1L | c.2324A>G (p.Lys775Arg) n.2748A>G c.2336A>G (p.Lys779Arg) c.569A>G (p.Lys190Arg) n.2368A>G n.2379A>G | |
| 16 | g.53645984T>G | CA395914865 | RPGRIP1L | c.2324A>C (p.Lys775Thr) n.2748A>C c.2336A>C (p.Lys779Thr) c.569A>C (p.Lys190Thr) n.2368A>C n.2379A>C | dbSNP |
| 16 | g.53645984T= | CA2223254736 | RPGRIP1L | c.2324A= (p.Lys775=) n.2748A= c.2336A= (p.Lys779=) c.569A= (p.Lys190=) n.2368A= n.2379A= | |
| 16 | g.53645985T>A | CA395914868 | RPGRIP1L | c.2323A>T (p.Lys775Ter) n.2747A>T c.2335A>T (p.Lys779Ter) c.568A>T (p.Lys190Ter) n.2367A>T n.2378A>T | |
| 16 | g.53645985T>C | CA395914870 | RPGRIP1L | c.2323A>G (p.Lys775Glu) n.2747A>G c.2335A>G (p.Lys779Glu) c.568A>G (p.Lys190Glu) n.2367A>G n.2378A>G | |
| 16 | g.53645985T>G | CA395914869 | RPGRIP1L | c.2323A>C (p.Lys775Gln) n.2747A>C c.2335A>C (p.Lys779Gln) c.568A>C (p.Lys190Gln) n.2367A>C n.2378A>C | |
| 16 | g.53645985_53645986delinsTG | CA2223254740 | RPGRIP1L | c.2322_2323delinsCA (p.Pro774=) n.2746_2747delinsCA c.2334_2335delinsCA (p.Pro778=) c.567_568delinsCA (p.Pro189=) n.2366_2367delinsCA n.2377_2378delinsCA | |
| 16 | g.53645986G>A | CA495784546 | RPGRIP1L | c.2322C>T (p.Pro774=) n.2746C>T c.2334C>T (p.Pro778=) c.567C>T (p.Pro189=) n.2366C>T n.2377C>T | |
| 16 | g.53645986G>C | CA495784547 | RPGRIP1L | c.2322C>G (p.Pro774=) n.2746C>G c.2334C>G (p.Pro778=) c.567C>G (p.Pro189=) n.2366C>G n.2377C>G | |
| 16 | g.53645986G>T | CA495784548 | RPGRIP1L | c.2322C>A (p.Pro774=) n.2746C>A c.2334C>A (p.Pro778=) c.567C>A (p.Pro189=) n.2366C>A n.2377C>A | |
| 16 | g.53645988del | CA622655329 | RPGRIP1L | c.2322del (p.Thr776LeufsTer14) n.2746del c.2334del (p.Thr780LeufsTer14) c.567del (p.Thr191LeufsTer14) n.2366del n.2377del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53645987G>A | CA395914873 | RPGRIP1L | c.2321C>T (p.Pro774Leu) n.2745C>T c.2333C>T (p.Pro778Leu) c.566C>T (p.Pro189Leu) n.2365C>T n.2376C>T | gnomAD v4 |
| 16 | g.53645987G>C | CA395914874 | RPGRIP1L | c.2321C>G (p.Pro774Arg) n.2745C>G c.2333C>G (p.Pro778Arg) c.566C>G (p.Pro189Arg) n.2365C>G n.2376C>G | |
| 16 | g.53645987G>T | CA395914875 | RPGRIP1L | c.2321C>A (p.Pro774His) n.2745C>A c.2333C>A (p.Pro778His) c.566C>A (p.Pro189His) n.2365C>A n.2376C>A | COSMIC |
| 16 | g.53645988G>A | CA395914878 | RPGRIP1L | c.2320C>T (p.Pro774Ser) n.2744C>T c.2332C>T (p.Pro778Ser) c.565C>T (p.Pro189Ser) n.2364C>T n.2375C>T | |
| 16 | g.53645988G>C | CA395914880 | RPGRIP1L | c.2320C>G (p.Pro774Ala) n.2744C>G c.2332C>G (p.Pro778Ala) c.565C>G (p.Pro189Ala) n.2364C>G n.2375C>G | |
| 16 | g.53645988G>T | CA395914882 | RPGRIP1L | c.2320C>A (p.Pro774Thr) n.2744C>A c.2332C>A (p.Pro778Thr) c.565C>A (p.Pro189Thr) n.2364C>A n.2375C>A | |
| 16 | g.53645989T>A | CA495784552 | RPGRIP1L | c.2319A>T (p.Ala773=) n.2743A>T c.2331A>T (p.Ala777=) c.564A>T (p.Ala188=) n.2363A>T n.2374A>T | |
| 16 | g.53645989T>C | CA495784550 | RPGRIP1L | c.2319A>G (p.Ala773=) n.2743A>G c.2331A>G (p.Ala777=) c.564A>G (p.Ala188=) n.2363A>G n.2374A>G | |
| 16 | g.53645989T>G | CA495784549 | RPGRIP1L | c.2319A>C (p.Ala773=) n.2743A>C c.2331A>C (p.Ala777=) c.564A>C (p.Ala188=) n.2363A>C n.2374A>C | ClinVar dbSNP |
| 16 | g.53645990G>A | CA395914884 | RPGRIP1L | c.2318C>T (p.Ala773Val) n.2742C>T c.2330C>T (p.Ala777Val) c.563C>T (p.Ala188Val) n.2362C>T n.2373C>T | |
| 16 | g.53645990G>C | CA395914886 | RPGRIP1L | c.2318C>G (p.Ala773Gly) n.2742C>G c.2330C>G (p.Ala777Gly) c.563C>G (p.Ala188Gly) n.2362C>G n.2373C>G | |
| 16 | g.53645990G>T | CA395914888 | RPGRIP1L | c.2318C>A (p.Ala773Glu) n.2742C>A c.2330C>A (p.Ala777Glu) c.563C>A (p.Ala188Glu) n.2362C>A n.2373C>A | |
| 16 | g.53645990_53645991insA | CA2807074949 | RPGRIP1L | c.2317_2318insT (p.Ala773ValfsTer19) n.2741_2742insT c.2329_2330insT (p.Ala777ValfsTer19) c.562_563insT (p.Ala188ValfsTer19) n.2361_2362insT n.2372_2373insT | |
| 16 | g.53645991C>A | CA395914890 | RPGRIP1L | c.2317G>T (p.Ala773Ser) n.2741G>T c.2329G>T (p.Ala777Ser) c.562G>T (p.Ala188Ser) n.2361G>T n.2372G>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53645991C= | CA2223254748 | RPGRIP1L | c.2317G= (p.Ala773=) n.2741G= c.2329G= (p.Ala777=) c.562G= (p.Ala188=) n.2361G= n.2372G= | |
| 16 | g.53645991C>G | CA395914892 | RPGRIP1L | c.2317G>C (p.Ala773Pro) n.2741G>C c.2329G>C (p.Ala777Pro) c.562G>C (p.Ala188Pro) n.2361G>C n.2372G>C | gnomAD v4 |
| 16 | g.53645991C>T | CA395914893 | RPGRIP1L | c.2317G>A (p.Ala773Thr) n.2741G>A c.2329G>A (p.Ala777Thr) c.562G>A (p.Ala188Thr) n.2361G>A n.2372G>A | |
| 16 | g.53645992T>A | CA395914897 | RPGRIP1L | c.2316A>T (p.Gln772His) n.2740A>T c.2328A>T (p.Gln776His) c.561A>T (p.Gln187His) n.2360A>T n.2371A>T | |
| 16 | g.53645992T>C | CA281339528 | RPGRIP1L | c.2316A>G (p.Gln772=) n.2740A>G c.2328A>G (p.Gln776=) c.561A>G (p.Gln187=) n.2360A>G n.2371A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53645992T>G | CA395914895 | RPGRIP1L | c.2316A>C (p.Gln772His) n.2740A>C c.2328A>C (p.Gln776His) c.561A>C (p.Gln187His) n.2360A>C n.2371A>C | |
| 16 | g.53645992T= | CA2223254755 | RPGRIP1L | c.2316A= (p.Gln772=) n.2740A= c.2328A= (p.Gln776=) c.561A= (p.Gln187=) n.2360A= n.2371A= | |
| 16 | g.53645993T>A | CA395914900 | RPGRIP1L | c.2315A>T (p.Gln772Leu) n.2739A>T c.2327A>T (p.Gln776Leu) c.560A>T (p.Gln187Leu) n.2359A>T n.2370A>T | |
| 16 | g.53645993T>C | CA395914901 | RPGRIP1L | c.2315A>G (p.Gln772Arg) n.2739A>G c.2327A>G (p.Gln776Arg) c.560A>G (p.Gln187Arg) n.2359A>G n.2370A>G | |
| 16 | g.53645993T>G | CA395914903 | RPGRIP1L | c.2315A>C (p.Gln772Pro) n.2739A>C c.2327A>C (p.Gln776Pro) c.560A>C (p.Gln187Pro) n.2359A>C n.2370A>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.53645993T= | CA2223254761 | RPGRIP1L | c.2315A= (p.Gln772=) n.2739A= c.2327A= (p.Gln776=) c.560A= (p.Gln187=) n.2359A= n.2370A= | |
| 16 | g.53645994G>A | CA395914904 | RPGRIP1L | c.2314C>T (p.Gln772Ter) n.2738C>T c.2326C>T (p.Gln776Ter) c.559C>T (p.Gln187Ter) n.2358C>T n.2369C>T | |
| 16 | g.53645994G>C | CA395914906 | RPGRIP1L | c.2314C>G (p.Gln772Glu) n.2738C>G c.2326C>G (p.Gln776Glu) c.559C>G (p.Gln187Glu) n.2358C>G n.2369C>G | |
| 16 | g.53645994G>T | CA395914908 | RPGRIP1L | c.2314C>A (p.Gln772Lys) n.2738C>A c.2326C>A (p.Gln776Lys) c.559C>A (p.Gln187Lys) n.2358C>A n.2369C>A | |
| 16 | g.53645995C>A | CA395914910 | RPGRIP1L | c.2313G>T (p.Gln771His) n.2737G>T c.2325G>T (p.Gln775His) c.558G>T (p.Gln186His) n.2357G>T n.2368G>T | |
| 16 | g.53645995C>G | CA395914912 | RPGRIP1L | c.2313G>C (p.Gln771His) n.2737G>C c.2325G>C (p.Gln775His) c.558G>C (p.Gln186His) n.2357G>C n.2368G>C | |
| 16 | g.53645995C>T | CA495784558 | RPGRIP1L | c.2313G>A (p.Gln771=) n.2737G>A c.2325G>A (p.Gln775=) c.558G>A (p.Gln186=) n.2357G>A n.2368G>A |