Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197427773dup | CA2841342698 | CRB1 | c.2448dup (p.Ile817TyrfsTer21) c.1329dup (p.Ile444TyrfsTer21) c.591dup (p.Ile198TyrfsTer21) c.2112dup (p.Ile705TyrfsTer21) n.349dup c.2241dup (p.Ile748TyrfsTer21) c.2128+5817dup (n.2128+5817dup) n.2449dup n.2657dup c.1866dup (p.Ile623TyrfsTer21) c.891dup (p.Ile298TyrfsTer21) c.1605dup (p.Ile536TyrfsTer21) n.2401dup n.2609dup | |
1 | g.197427773T>A | CA344037419 | CRB1 | c.2448T>A (p.Phe816Leu) c.1329T>A (p.Phe443Leu) c.591T>A (p.Phe197Leu) c.2112T>A (p.Phe704Leu) n.349T>A c.2241T>A (p.Phe747Leu) c.2128+5817T>A (n.2128+5817T>A) n.2449T>A n.2657T>A c.1866T>A (p.Phe622Leu) c.891T>A (p.Phe297Leu) c.1605T>A (p.Phe535Leu) n.2401T>A n.2609T>A | |
1 | g.197427773T>C | CA422808764 | CRB1 | c.2448T>C (p.Phe816=) c.1329T>C (p.Phe443=) c.591T>C (p.Phe197=) c.2112T>C (p.Phe704=) n.349T>C c.2241T>C (p.Phe747=) c.2128+5817T>C (n.2128+5817T>C) n.2449T>C n.2657T>C c.1866T>C (p.Phe622=) c.891T>C (p.Phe297=) c.1605T>C (p.Phe535=) n.2401T>C n.2609T>C | |
1 | g.197427773T>G | CA344037421 | CRB1 | c.2448T>G (p.Phe816Leu) c.1329T>G (p.Phe443Leu) c.591T>G (p.Phe197Leu) c.2112T>G (p.Phe704Leu) n.349T>G c.2241T>G (p.Phe747Leu) c.2128+5817T>G (n.2128+5817T>G) n.2449T>G n.2657T>G c.1866T>G (p.Phe622Leu) c.891T>G (p.Phe297Leu) c.1605T>G (p.Phe535Leu) n.2401T>G n.2609T>G | |
1 | g.197427774A>C | CA344037426 | CRB1 | c.2449A>C (p.Ile817Leu) c.1330A>C (p.Ile444Leu) c.592A>C (p.Ile198Leu) c.2113A>C (p.Ile705Leu) n.350A>C c.2242A>C (p.Ile748Leu) c.2128+5818A>C (n.2128+5818A>C) n.2450A>C n.2658A>C c.1867A>C (p.Ile623Leu) c.892A>C (p.Ile298Leu) c.1606A>C (p.Ile536Leu) n.2402A>C n.2610A>C | |
1 | g.197427774A>G | CA344037428 | CRB1 | c.2449A>G (p.Ile817Val) c.1330A>G (p.Ile444Val) c.592A>G (p.Ile198Val) c.2113A>G (p.Ile705Val) n.350A>G c.2242A>G (p.Ile748Val) c.2128+5818A>G (n.2128+5818A>G) n.2450A>G n.2658A>G c.1867A>G (p.Ile623Val) c.892A>G (p.Ile298Val) c.1606A>G (p.Ile536Val) n.2402A>G n.2610A>G | |
1 | g.197427774A>T | CA344037430 | CRB1 | c.2449A>T (p.Ile817Phe) c.1330A>T (p.Ile444Phe) c.592A>T (p.Ile198Phe) c.2113A>T (p.Ile705Phe) n.350A>T c.2242A>T (p.Ile748Phe) c.2128+5818A>T (n.2128+5818A>T) n.2450A>T n.2658A>T c.1867A>T (p.Ile623Phe) c.892A>T (p.Ile298Phe) c.1606A>T (p.Ile536Phe) n.2402A>T n.2610A>T | |
1 | g.197427775T>A | CA344037435 | CRB1 | c.2450T>A (p.Ile817Asn) c.1331T>A (p.Ile444Asn) c.593T>A (p.Ile198Asn) c.2114T>A (p.Ile705Asn) n.351T>A c.2243T>A (p.Ile748Asn) c.2128+5819T>A (n.2128+5819T>A) n.2451T>A n.2659T>A c.1868T>A (p.Ile623Asn) c.893T>A (p.Ile298Asn) c.1607T>A (p.Ile536Asn) n.2403T>A n.2611T>A | |
1 | g.197427775T>C | CA344037437 | CRB1 | c.2450T>C (p.Ile817Thr) c.1331T>C (p.Ile444Thr) c.593T>C (p.Ile198Thr) c.2114T>C (p.Ile705Thr) n.351T>C c.2243T>C (p.Ile748Thr) c.2128+5819T>C (n.2128+5819T>C) n.2451T>C n.2659T>C c.1868T>C (p.Ile623Thr) c.893T>C (p.Ile298Thr) c.1607T>C (p.Ile536Thr) n.2403T>C n.2611T>C | |
1 | g.197427775T>G | CA344037439 | CRB1 | c.2450T>G (p.Ile817Ser) c.1331T>G (p.Ile444Ser) c.593T>G (p.Ile198Ser) c.2114T>G (p.Ile705Ser) n.351T>G c.2243T>G (p.Ile748Ser) c.2128+5819T>G (n.2128+5819T>G) n.2451T>G n.2659T>G c.1868T>G (p.Ile623Ser) c.893T>G (p.Ile298Ser) c.1607T>G (p.Ile536Ser) n.2403T>G n.2611T>G | |
1 | g.197427776T>A | CA422808767 | CRB1 | c.2451T>A (p.Ile817=) c.1332T>A (p.Ile444=) c.594T>A (p.Ile198=) c.2115T>A (p.Ile705=) n.352T>A c.2244T>A (p.Ile748=) c.2128+5820T>A (n.2128+5820T>A) n.2452T>A n.2660T>A c.1869T>A (p.Ile623=) c.894T>A (p.Ile298=) c.1608T>A (p.Ile536=) n.2404T>A n.2612T>A | |
1 | g.197427776T>C | CA422808768 | CRB1 | c.2451T>C (p.Ile817=) c.1332T>C (p.Ile444=) c.594T>C (p.Ile198=) c.2115T>C (p.Ile705=) n.352T>C c.2244T>C (p.Ile748=) c.2128+5820T>C (n.2128+5820T>C) n.2452T>C n.2660T>C c.1869T>C (p.Ile623=) c.894T>C (p.Ile298=) c.1608T>C (p.Ile536=) n.2404T>C n.2612T>C | |
1 | g.197427776T>G | CA344037440 | CRB1 | c.2451T>G (p.Ile817Met) c.1332T>G (p.Ile444Met) c.594T>G (p.Ile198Met) c.2115T>G (p.Ile705Met) n.352T>G c.2244T>G (p.Ile748Met) c.2128+5820T>G (n.2128+5820T>G) n.2452T>G n.2660T>G c.1869T>G (p.Ile623Met) c.894T>G (p.Ile298Met) c.1608T>G (p.Ile536Met) n.2404T>G n.2612T>G | |
1 | g.197427777T>A | CA344037449 | CRB1 | c.2452T>A (p.Ser818Thr) c.1333T>A (p.Ser445Thr) c.595T>A (p.Ser199Thr) c.2116T>A (p.Ser706Thr) n.353T>A c.2245T>A (p.Ser749Thr) c.2128+5821T>A (n.2128+5821T>A) n.2453T>A n.2661T>A c.1870T>A (p.Ser624Thr) c.895T>A (p.Ser299Thr) c.1609T>A (p.Ser537Thr) n.2405T>A n.2613T>A | |
1 | g.197427777T>C | CA344037443 | CRB1 | c.2452T>C (p.Ser818Pro) c.1333T>C (p.Ser445Pro) c.595T>C (p.Ser199Pro) c.2116T>C (p.Ser706Pro) n.353T>C c.2245T>C (p.Ser749Pro) c.2128+5821T>C (n.2128+5821T>C) n.2453T>C n.2661T>C c.1870T>C (p.Ser624Pro) c.895T>C (p.Ser299Pro) c.1609T>C (p.Ser537Pro) n.2405T>C n.2613T>C | |
1 | g.197427777T>G | CA344037446 | CRB1 | c.2452T>G (p.Ser818Ala) c.1333T>G (p.Ser445Ala) c.595T>G (p.Ser199Ala) c.2116T>G (p.Ser706Ala) n.353T>G c.2245T>G (p.Ser749Ala) c.2128+5821T>G (n.2128+5821T>G) n.2453T>G n.2661T>G c.1870T>G (p.Ser624Ala) c.895T>G (p.Ser299Ala) c.1609T>G (p.Ser537Ala) n.2405T>G n.2613T>G | |
1 | g.197427778C>A | CA344037454 | CRB1 | c.2453C>A (p.Ser818Tyr) c.1334C>A (p.Ser445Tyr) c.596C>A (p.Ser199Tyr) c.2117C>A (p.Ser706Tyr) n.354C>A c.2246C>A (p.Ser749Tyr) c.2128+5822C>A (n.2128+5822C>A) n.2454C>A n.2662C>A c.1871C>A (p.Ser624Tyr) c.896C>A (p.Ser299Tyr) c.1610C>A (p.Ser537Tyr) n.2406C>A n.2614C>A | gnomAD v4 |
1 | g.197427778C>G | CA344037457 | CRB1 | c.2453C>G (p.Ser818Cys) c.1334C>G (p.Ser445Cys) c.596C>G (p.Ser199Cys) c.2117C>G (p.Ser706Cys) n.354C>G c.2246C>G (p.Ser749Cys) c.2128+5822C>G (n.2128+5822C>G) n.2454C>G n.2662C>G c.1871C>G (p.Ser624Cys) c.896C>G (p.Ser299Cys) c.1610C>G (p.Ser537Cys) n.2406C>G n.2614C>G | |
1 | g.197427778C>T | CA344037460 | CRB1 | c.2453C>T (p.Ser818Phe) c.1334C>T (p.Ser445Phe) c.596C>T (p.Ser199Phe) c.2117C>T (p.Ser706Phe) n.354C>T c.2246C>T (p.Ser749Phe) c.2128+5822C>T (n.2128+5822C>T) n.2454C>T n.2662C>T c.1871C>T (p.Ser624Phe) c.896C>T (p.Ser299Phe) c.1610C>T (p.Ser537Phe) n.2406C>T n.2614C>T | COSMIC |
1 | g.197427779T>A | CA422808770 | CRB1 | c.2454T>A (p.Ser818=) c.1335T>A (p.Ser445=) c.597T>A (p.Ser199=) c.2118T>A (p.Ser706=) n.355T>A c.2247T>A (p.Ser749=) c.2128+5823T>A (n.2128+5823T>A) n.2455T>A n.2663T>A c.1872T>A (p.Ser624=) c.897T>A (p.Ser299=) c.1611T>A (p.Ser537=) n.2407T>A n.2615T>A | |
1 | g.197427779T>C | CA422808771 | CRB1 | c.2454T>C (p.Ser818=) c.1335T>C (p.Ser445=) c.597T>C (p.Ser199=) c.2118T>C (p.Ser706=) n.355T>C c.2247T>C (p.Ser749=) c.2128+5823T>C (n.2128+5823T>C) n.2455T>C n.2663T>C c.1872T>C (p.Ser624=) c.897T>C (p.Ser299=) c.1611T>C (p.Ser537=) n.2407T>C n.2615T>C | |
1 | g.197427779T>G | CA422808772 | CRB1 | c.2454T>G (p.Ser818=) c.1335T>G (p.Ser445=) c.597T>G (p.Ser199=) c.2118T>G (p.Ser706=) n.355T>G c.2247T>G (p.Ser749=) c.2128+5823T>G (n.2128+5823T>G) n.2455T>G n.2663T>G c.1872T>G (p.Ser624=) c.897T>G (p.Ser299=) c.1611T>G (p.Ser537=) n.2407T>G n.2615T>G | |
1 | g.197427780G>A | CA344037464 | CRB1 | c.2455G>A (p.Ala819Thr) c.1336G>A (p.Ala446Thr) c.598G>A (p.Ala200Thr) c.2119G>A (p.Ala707Thr) n.356G>A c.2248G>A (p.Ala750Thr) c.2128+5824G>A (n.2128+5824G>A) n.2456G>A n.2664G>A c.1873G>A (p.Ala625Thr) c.898G>A (p.Ala300Thr) c.1612G>A (p.Ala538Thr) n.2408G>A n.2616G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197427780G>C | CA344037467 | CRB1 | c.2455G>C (p.Ala819Pro) c.1336G>C (p.Ala446Pro) c.598G>C (p.Ala200Pro) c.2119G>C (p.Ala707Pro) n.356G>C c.2248G>C (p.Ala750Pro) c.2128+5824G>C (n.2128+5824G>C) n.2456G>C n.2664G>C c.1873G>C (p.Ala625Pro) c.898G>C (p.Ala300Pro) c.1612G>C (p.Ala538Pro) n.2408G>C n.2616G>C | |
1 | g.197427780G= | CA1218066263 | CRB1 | c.2455G= (p.Ala819=) c.1336G= (p.Ala446=) c.598G= (p.Ala200=) c.2119G= (p.Ala707=) n.356G= c.2248G= (p.Ala750=) c.2128+5824G= (n.2128+5824G=) n.2456G= n.2664G= c.1873G= (p.Ala625=) c.898G= (p.Ala300=) c.1612G= (p.Ala538=) n.2408G= n.2616G= | |
1 | g.197427780G>T | CA344037470 | CRB1 | c.2455G>T (p.Ala819Ser) c.1336G>T (p.Ala446Ser) c.598G>T (p.Ala200Ser) c.2119G>T (p.Ala707Ser) n.356G>T c.2248G>T (p.Ala750Ser) c.2128+5824G>T (n.2128+5824G>T) n.2456G>T n.2664G>T c.1873G>T (p.Ala625Ser) c.898G>T (p.Ala300Ser) c.1612G>T (p.Ala538Ser) n.2408G>T n.2616G>T | gnomAD v4 |
1 | g.197427781C>A | CA344037478 | CRB1 | c.2456C>A (p.Ala819Asp) c.1337C>A (p.Ala446Asp) c.599C>A (p.Ala200Asp) c.2120C>A (p.Ala707Asp) n.357C>A c.2249C>A (p.Ala750Asp) c.2128+5825C>A (n.2128+5825C>A) n.2457C>A n.2665C>A c.1874C>A (p.Ala625Asp) c.899C>A (p.Ala300Asp) c.1613C>A (p.Ala538Asp) n.2409C>A n.2617C>A | |
1 | g.197427781C>G | CA344037480 | CRB1 | c.2456C>G (p.Ala819Gly) c.1337C>G (p.Ala446Gly) c.599C>G (p.Ala200Gly) c.2120C>G (p.Ala707Gly) n.357C>G c.2249C>G (p.Ala750Gly) c.2128+5825C>G (n.2128+5825C>G) n.2457C>G n.2665C>G c.1874C>G (p.Ala625Gly) c.899C>G (p.Ala300Gly) c.1613C>G (p.Ala538Gly) n.2409C>G n.2617C>G | |
1 | g.197427781C>T | CA344037482 | CRB1 | c.2456C>T (p.Ala819Val) c.1337C>T (p.Ala446Val) c.599C>T (p.Ala200Val) c.2120C>T (p.Ala707Val) n.357C>T c.2249C>T (p.Ala750Val) c.2128+5825C>T (n.2128+5825C>T) n.2457C>T n.2665C>T c.1874C>T (p.Ala625Val) c.899C>T (p.Ala300Val) c.1613C>T (p.Ala538Val) n.2409C>T n.2617C>T | gnomAD v4 |
1 | g.197427782T>A | CA422808775 | CRB1 | c.2457T>A (p.Ala819=) c.1338T>A (p.Ala446=) c.600T>A (p.Ala200=) c.2121T>A (p.Ala707=) n.358T>A c.2250T>A (p.Ala750=) c.2128+5826T>A (n.2128+5826T>A) n.2458T>A n.2666T>A c.1875T>A (p.Ala625=) c.900T>A (p.Ala300=) c.1614T>A (p.Ala538=) n.2410T>A n.2618T>A | |
1 | g.197427782T>C | CA422808777 | CRB1 | c.2457T>C (p.Ala819=) c.1338T>C (p.Ala446=) c.600T>C (p.Ala200=) c.2121T>C (p.Ala707=) n.358T>C c.2250T>C (p.Ala750=) c.2128+5826T>C (n.2128+5826T>C) n.2458T>C n.2666T>C c.1875T>C (p.Ala625=) c.900T>C (p.Ala300=) c.1614T>C (p.Ala538=) n.2410T>C n.2618T>C | |
1 | g.197427782T>G | CA422808778 | CRB1 | c.2457T>G (p.Ala819=) c.1338T>G (p.Ala446=) c.600T>G (p.Ala200=) c.2121T>G (p.Ala707=) n.358T>G c.2250T>G (p.Ala750=) c.2128+5826T>G (n.2128+5826T>G) n.2458T>G n.2666T>G c.1875T>G (p.Ala625=) c.900T>G (p.Ala300=) c.1614T>G (p.Ala538=) n.2410T>G n.2618T>G | |
1 | g.197427783T>A | CA344037484 | CRB1 | c.2458T>A (p.Ser820Thr) c.1339T>A (p.Ser447Thr) c.601T>A (p.Ser201Thr) c.2122T>A (p.Ser708Thr) n.359T>A c.2251T>A (p.Ser751Thr) c.2128+5827T>A (n.2128+5827T>A) n.2459T>A n.2667T>A c.1876T>A (p.Ser626Thr) c.901T>A (p.Ser301Thr) c.1615T>A (p.Ser539Thr) n.2411T>A n.2619T>A | |
1 | g.197427783T>C | CA344037486 | CRB1 | c.2458T>C (p.Ser820Pro) c.1339T>C (p.Ser447Pro) c.601T>C (p.Ser201Pro) c.2122T>C (p.Ser708Pro) n.359T>C c.2251T>C (p.Ser751Pro) c.2128+5827T>C (n.2128+5827T>C) n.2459T>C n.2667T>C c.1876T>C (p.Ser626Pro) c.901T>C (p.Ser301Pro) c.1615T>C (p.Ser539Pro) n.2411T>C n.2619T>C | |
1 | g.197427783T>G | CA344037489 | CRB1 | c.2458T>G (p.Ser820Ala) c.1339T>G (p.Ser447Ala) c.601T>G (p.Ser201Ala) c.2122T>G (p.Ser708Ala) n.359T>G c.2251T>G (p.Ser751Ala) c.2128+5827T>G (n.2128+5827T>G) n.2459T>G n.2667T>G c.1876T>G (p.Ser626Ala) c.901T>G (p.Ser301Ala) c.1615T>G (p.Ser539Ala) n.2411T>G n.2619T>G | |
1 | g.197427784C>A | CA344037500 | CRB1 | c.2459C>A (p.Ser820Tyr) c.1340C>A (p.Ser447Tyr) c.602C>A (p.Ser201Tyr) c.2123C>A (p.Ser708Tyr) n.360C>A c.2252C>A (p.Ser751Tyr) c.2128+5828C>A (n.2128+5828C>A) n.2460C>A n.2668C>A c.1877C>A (p.Ser626Tyr) c.902C>A (p.Ser301Tyr) c.1616C>A (p.Ser539Tyr) n.2412C>A n.2620C>A | |
1 | g.197427784C= | CA1218066266 | CRB1 | c.2459C= (p.Ser820=) c.1340C= (p.Ser447=) c.602C= (p.Ser201=) c.2123C= (p.Ser708=) n.360C= c.2252C= (p.Ser751=) c.2128+5828C= (n.2128+5828C=) n.2460C= n.2668C= c.1877C= (p.Ser626=) c.902C= (p.Ser301=) c.1616C= (p.Ser539=) n.2412C= n.2620C= | |
1 | g.197427784C>G | CA344037496 | CRB1 | c.2459C>G (p.Ser820Cys) c.1340C>G (p.Ser447Cys) c.602C>G (p.Ser201Cys) c.2123C>G (p.Ser708Cys) n.360C>G c.2252C>G (p.Ser751Cys) c.2128+5828C>G (n.2128+5828C>G) n.2460C>G n.2668C>G c.1877C>G (p.Ser626Cys) c.902C>G (p.Ser301Cys) c.1616C>G (p.Ser539Cys) n.2412C>G n.2620C>G | gnomAD v4 |
1 | g.197427784C>T | CA1312122 | CRB1 | c.2459C>T (p.Ser820Phe) c.1340C>T (p.Ser447Phe) c.602C>T (p.Ser201Phe) c.2123C>T (p.Ser708Phe) n.360C>T c.2252C>T (p.Ser751Phe) c.2128+5828C>T (n.2128+5828C>T) n.2460C>T n.2668C>T c.1877C>T (p.Ser626Phe) c.902C>T (p.Ser301Phe) c.1616C>T (p.Ser539Phe) n.2412C>T n.2620C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.197427785T>A | CA422808783 | CRB1 | c.2460T>A (p.Ser820=) c.1341T>A (p.Ser447=) c.603T>A (p.Ser201=) c.2124T>A (p.Ser708=) n.361T>A c.2253T>A (p.Ser751=) c.2128+5829T>A (n.2128+5829T>A) n.2461T>A n.2669T>A c.1878T>A (p.Ser626=) c.903T>A (p.Ser301=) c.1617T>A (p.Ser539=) n.2413T>A n.2621T>A | |
1 | g.197427785T>C | CA422808780 | CRB1 | c.2460T>C (p.Ser820=) c.1341T>C (p.Ser447=) c.603T>C (p.Ser201=) c.2124T>C (p.Ser708=) n.361T>C c.2253T>C (p.Ser751=) c.2128+5829T>C (n.2128+5829T>C) n.2461T>C n.2669T>C c.1878T>C (p.Ser626=) c.903T>C (p.Ser301=) c.1617T>C (p.Ser539=) n.2413T>C n.2621T>C | |
1 | g.197427785T>G | CA422808782 | CRB1 | c.2460T>G (p.Ser820=) c.1341T>G (p.Ser447=) c.603T>G (p.Ser201=) c.2124T>G (p.Ser708=) n.361T>G c.2253T>G (p.Ser751=) c.2128+5829T>G (n.2128+5829T>G) n.2461T>G n.2669T>G c.1878T>G (p.Ser626=) c.903T>G (p.Ser301=) c.1617T>G (p.Ser539=) n.2413T>G n.2621T>G | |
1 | g.197427786A>C | CA344037505 | CRB1 | c.2461A>C (p.Thr821Pro) c.1342A>C (p.Thr448Pro) c.604A>C (p.Thr202Pro) c.2125A>C (p.Thr709Pro) n.362A>C c.2254A>C (p.Thr752Pro) c.2128+5830A>C (n.2128+5830A>C) n.2462A>C n.2670A>C c.1879A>C (p.Thr627Pro) c.904A>C (p.Thr302Pro) c.1618A>C (p.Thr540Pro) n.2414A>C n.2622A>C | |
1 | g.197427786A>G | CA344037511 | CRB1 | c.2461A>G (p.Thr821Ala) c.1342A>G (p.Thr448Ala) c.604A>G (p.Thr202Ala) c.2125A>G (p.Thr709Ala) n.362A>G c.2254A>G (p.Thr752Ala) c.2128+5830A>G (n.2128+5830A>G) n.2462A>G n.2670A>G c.1879A>G (p.Thr627Ala) c.904A>G (p.Thr302Ala) c.1618A>G (p.Thr540Ala) n.2414A>G n.2622A>G | |
1 | g.197427786A>T | CA344037507 | CRB1 | c.2461A>T (p.Thr821Ser) c.1342A>T (p.Thr448Ser) c.604A>T (p.Thr202Ser) c.2125A>T (p.Thr709Ser) n.362A>T c.2254A>T (p.Thr752Ser) c.2128+5830A>T (n.2128+5830A>T) n.2462A>T n.2670A>T c.1879A>T (p.Thr627Ser) c.904A>T (p.Thr302Ser) c.1618A>T (p.Thr540Ser) n.2414A>T n.2622A>T | |
1 | g.197427787C>A | CA344037515 | CRB1 | c.2462C>A (p.Thr821Lys) c.1343C>A (p.Thr448Lys) c.605C>A (p.Thr202Lys) c.2126C>A (p.Thr709Lys) n.363C>A c.2255C>A (p.Thr752Lys) c.2128+5831C>A (n.2128+5831C>A) n.2463C>A n.2671C>A c.1880C>A (p.Thr627Lys) c.905C>A (p.Thr302Lys) c.1619C>A (p.Thr540Lys) n.2415C>A n.2623C>A | gnomAD v4 |
1 | g.197427787C= | CA1141893786 | CRB1 | c.2462C= (p.Thr821=) c.1343C= (p.Thr448=) c.605C= (p.Thr202=) c.2126C= (p.Thr709=) n.363C= c.2255C= (p.Thr752=) c.2128+5831C= (n.2128+5831C=) n.2463C= n.2671C= c.1880C= (p.Thr627=) c.905C= (p.Thr302=) c.1619C= (p.Thr540=) n.2415C= n.2623C= | |
1 | g.197427787C>G | CA344037518 | CRB1 | c.2462C>G (p.Thr821Arg) c.1343C>G (p.Thr448Arg) c.605C>G (p.Thr202Arg) c.2126C>G (p.Thr709Arg) n.363C>G c.2255C>G (p.Thr752Arg) c.2128+5831C>G (n.2128+5831C>G) n.2463C>G n.2671C>G c.1880C>G (p.Thr627Arg) c.905C>G (p.Thr302Arg) c.1619C>G (p.Thr540Arg) n.2415C>G n.2623C>G | ClinVar dbSNP |
1 | g.197427787C>T | CA247395 | CRB1 | c.2462C>T (p.Thr821Met) c.1343C>T (p.Thr448Met) c.605C>T (p.Thr202Met) c.2126C>T (p.Thr709Met) n.363C>T c.2255C>T (p.Thr752Met) c.2128+5831C>T (n.2128+5831C>T) n.2463C>T n.2671C>T c.1880C>T (p.Thr627Met) c.905C>T (p.Thr302Met) c.1619C>T (p.Thr540Met) n.2415C>T n.2623C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427788G>A | CA1312123 | CRB1 | c.2463G>A (p.Thr821=) c.1344G>A (p.Thr448=) c.606G>A (p.Thr202=) c.2127G>A (p.Thr709=) n.364G>A c.2256G>A (p.Thr752=) c.2128+5832G>A (n.2128+5832G>A) n.2464G>A n.2672G>A c.1881G>A (p.Thr627=) c.906G>A (p.Thr302=) c.1620G>A (p.Thr540=) n.2416G>A n.2624G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427788G>C | CA422808785 | CRB1 | c.2463G>C (p.Thr821=) c.1344G>C (p.Thr448=) c.606G>C (p.Thr202=) c.2127G>C (p.Thr709=) n.364G>C c.2256G>C (p.Thr752=) c.2128+5832G>C (n.2128+5832G>C) n.2464G>C n.2672G>C c.1881G>C (p.Thr627=) c.906G>C (p.Thr302=) c.1620G>C (p.Thr540=) n.2416G>C n.2624G>C | gnomAD v4 |
1 | g.197427788G= | CA1144049097 | CRB1 | c.2463G= (p.Thr821=) c.1344G= (p.Thr448=) c.606G= (p.Thr202=) c.2127G= (p.Thr709=) n.364G= c.2256G= (p.Thr752=) c.2128+5832G= (n.2128+5832G=) n.2464G= n.2672G= c.1881G= (p.Thr627=) c.906G= (p.Thr302=) c.1620G= (p.Thr540=) n.2416G= n.2624G= | |
1 | g.197427788G>T | CA422808786 | CRB1 | c.2463G>T (p.Thr821=) c.1344G>T (p.Thr448=) c.606G>T (p.Thr202=) c.2127G>T (p.Thr709=) n.364G>T c.2256G>T (p.Thr752=) c.2128+5832G>T (n.2128+5832G>T) n.2464G>T n.2672G>T c.1881G>T (p.Thr627=) c.906G>T (p.Thr302=) c.1620G>T (p.Thr540=) n.2416G>T n.2624G>T | |
1 | g.197427789T>A | CA344037527 | CRB1 | c.2464T>A (p.Trp822Arg) c.1345T>A (p.Trp449Arg) c.607T>A (p.Trp203Arg) c.2128T>A (p.Trp710Arg) n.365T>A c.2257T>A (p.Trp753Arg) c.2128+5833T>A (n.2128+5833T>A) n.2465T>A n.2673T>A c.1882T>A (p.Trp628Arg) c.907T>A (p.Trp303Arg) c.1621T>A (p.Trp541Arg) n.2417T>A n.2625T>A | |
1 | g.197427789T>C | CA344037529 | CRB1 | c.2464T>C (p.Trp822Arg) c.1345T>C (p.Trp449Arg) c.607T>C (p.Trp203Arg) c.2128T>C (p.Trp710Arg) n.365T>C c.2257T>C (p.Trp753Arg) c.2128+5833T>C (n.2128+5833T>C) n.2465T>C n.2673T>C c.1882T>C (p.Trp628Arg) c.907T>C (p.Trp303Arg) c.1621T>C (p.Trp541Arg) n.2417T>C n.2625T>C | |
1 | g.197427789T>G | CA344037531 | CRB1 | c.2464T>G (p.Trp822Gly) c.1345T>G (p.Trp449Gly) c.607T>G (p.Trp203Gly) c.2128T>G (p.Trp710Gly) n.365T>G c.2257T>G (p.Trp753Gly) c.2128+5833T>G (n.2128+5833T>G) n.2465T>G n.2673T>G c.1882T>G (p.Trp628Gly) c.907T>G (p.Trp303Gly) c.1621T>G (p.Trp541Gly) n.2417T>G n.2625T>G | |
1 | g.197427790G>A | CA344037535 | CRB1 | c.2465G>A (p.Trp822Ter) c.1346G>A (p.Trp449Ter) c.608G>A (p.Trp203Ter) c.2129G>A (p.Trp710Ter) n.366G>A c.2258G>A (p.Trp753Ter) c.2128+5834G>A (n.2128+5834G>A) n.2466G>A n.2674G>A c.1883G>A (p.Trp628Ter) c.908G>A (p.Trp303Ter) c.1622G>A (p.Trp541Ter) n.2418G>A n.2626G>A | COSMIC COSMIC |
1 | g.197427790G>C | CA344037539 | CRB1 | c.2465G>C (p.Trp822Ser) c.1346G>C (p.Trp449Ser) c.608G>C (p.Trp203Ser) c.2129G>C (p.Trp710Ser) n.366G>C c.2258G>C (p.Trp753Ser) c.2128+5834G>C (n.2128+5834G>C) n.2466G>C n.2674G>C c.1883G>C (p.Trp628Ser) c.908G>C (p.Trp303Ser) c.1622G>C (p.Trp541Ser) n.2418G>C n.2626G>C | |
1 | g.197427790G>T | CA344037543 | CRB1 | c.2465G>T (p.Trp822Leu) c.1346G>T (p.Trp449Leu) c.608G>T (p.Trp203Leu) c.2129G>T (p.Trp710Leu) n.366G>T c.2258G>T (p.Trp753Leu) c.2128+5834G>T (n.2128+5834G>T) n.2466G>T n.2674G>T c.1883G>T (p.Trp628Leu) c.908G>T (p.Trp303Leu) c.1622G>T (p.Trp541Leu) n.2418G>T n.2626G>T | |
1 | g.197427791G>A | CA344037547 | CRB1 | c.2466G>A (p.Trp822Ter) c.1347G>A (p.Trp449Ter) c.609G>A (p.Trp203Ter) c.2130G>A (p.Trp710Ter) n.367G>A c.2259G>A (p.Trp753Ter) c.2128+5835G>A (n.2128+5835G>A) n.2467G>A n.2675G>A c.1884G>A (p.Trp628Ter) c.909G>A (p.Trp303Ter) c.1623G>A (p.Trp541Ter) n.2419G>A n.2627G>A | ClinVar dbSNP COSMIC COSMIC |
1 | g.197427791G>C | CA344037550 | CRB1 | c.2466G>C (p.Trp822Cys) c.1347G>C (p.Trp449Cys) c.609G>C (p.Trp203Cys) c.2130G>C (p.Trp710Cys) n.367G>C c.2259G>C (p.Trp753Cys) c.2128+5835G>C (n.2128+5835G>C) n.2467G>C n.2675G>C c.1884G>C (p.Trp628Cys) c.909G>C (p.Trp303Cys) c.1623G>C (p.Trp541Cys) n.2419G>C n.2627G>C | |
1 | g.197427791G= | CA1218066276 | CRB1 | c.2466G= (p.Trp822=) c.1347G= (p.Trp449=) c.609G= (p.Trp203=) c.2130G= (p.Trp710=) n.367G= c.2259G= (p.Trp753=) c.2128+5835G= (n.2128+5835G=) n.2467G= n.2675G= c.1884G= (p.Trp628=) c.909G= (p.Trp303=) c.1623G= (p.Trp541=) n.2419G= n.2627G= | |
1 | g.197427791G>T | CA344037551 | CRB1 | c.2466G>T (p.Trp822Cys) c.1347G>T (p.Trp449Cys) c.609G>T (p.Trp203Cys) c.2130G>T (p.Trp710Cys) n.367G>T c.2259G>T (p.Trp753Cys) c.2128+5835G>T (n.2128+5835G>T) n.2467G>T n.2675G>T c.1884G>T (p.Trp628Cys) c.909G>T (p.Trp303Cys) c.1623G>T (p.Trp541Cys) n.2419G>T n.2627G>T | |
1 | g.197427792A= | CA1218066279 | CRB1 | c.2467A= (p.Lys823=) c.1348A= (p.Lys450=) c.610A= (p.Lys204=) c.2131A= (p.Lys711=) n.368A= c.2260A= (p.Lys754=) c.2128+5836A= (n.2128+5836A=) n.2468A= n.2676A= c.1885A= (p.Lys629=) c.910A= (p.Lys304=) c.1624A= (p.Lys542=) n.2420A= n.2628A= | |
1 | g.197427792A>C | CA344037556 | CRB1 | c.2467A>C (p.Lys823Gln) c.1348A>C (p.Lys450Gln) c.610A>C (p.Lys204Gln) c.2131A>C (p.Lys711Gln) n.368A>C c.2260A>C (p.Lys754Gln) c.2128+5836A>C (n.2128+5836A>C) n.2468A>C n.2676A>C c.1885A>C (p.Lys629Gln) c.910A>C (p.Lys304Gln) c.1624A>C (p.Lys542Gln) n.2420A>C n.2628A>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427792A>G | CA344037562 | CRB1 | c.2467A>G (p.Lys823Glu) c.1348A>G (p.Lys450Glu) c.610A>G (p.Lys204Glu) c.2131A>G (p.Lys711Glu) n.368A>G c.2260A>G (p.Lys754Glu) c.2128+5836A>G (n.2128+5836A>G) n.2468A>G n.2676A>G c.1885A>G (p.Lys629Glu) c.910A>G (p.Lys304Glu) c.1624A>G (p.Lys542Glu) n.2420A>G n.2628A>G | |
1 | g.197427792A>T | CA344037558 | CRB1 | c.2467A>T (p.Lys823Ter) c.1348A>T (p.Lys450Ter) c.610A>T (p.Lys204Ter) c.2131A>T (p.Lys711Ter) n.368A>T c.2260A>T (p.Lys754Ter) c.2128+5836A>T (n.2128+5836A>T) n.2468A>T n.2676A>T c.1885A>T (p.Lys629Ter) c.910A>T (p.Lys304Ter) c.1624A>T (p.Lys542Ter) n.2420A>T n.2628A>T | |
1 | g.197427793A>C | CA344037566 | CRB1 | c.2468A>C (p.Lys823Thr) c.1349A>C (p.Lys450Thr) c.611A>C (p.Lys204Thr) c.2132A>C (p.Lys711Thr) n.369A>C c.2261A>C (p.Lys754Thr) c.2128+5837A>C (n.2128+5837A>C) n.2469A>C n.2677A>C c.1886A>C (p.Lys629Thr) c.911A>C (p.Lys304Thr) c.1625A>C (p.Lys542Thr) n.2421A>C n.2629A>C | |
1 | g.197427793A>G | CA344037575 | CRB1 | c.2468A>G (p.Lys823Arg) c.1349A>G (p.Lys450Arg) c.611A>G (p.Lys204Arg) c.2132A>G (p.Lys711Arg) n.369A>G c.2261A>G (p.Lys754Arg) c.2128+5837A>G (n.2128+5837A>G) n.2469A>G n.2677A>G c.1886A>G (p.Lys629Arg) c.911A>G (p.Lys304Arg) c.1625A>G (p.Lys542Arg) n.2421A>G n.2629A>G | |
1 | g.197427793A>T | CA344037579 | CRB1 | c.2468A>T (p.Lys823Ile) c.1349A>T (p.Lys450Ile) c.611A>T (p.Lys204Ile) c.2132A>T (p.Lys711Ile) n.369A>T c.2261A>T (p.Lys754Ile) c.2128+5837A>T (n.2128+5837A>T) n.2469A>T n.2677A>T c.1886A>T (p.Lys629Ile) c.911A>T (p.Lys304Ile) c.1625A>T (p.Lys542Ile) n.2421A>T n.2629A>T | |
1 | g.197427794A>C | CA344037582 | CRB1 | c.2469A>C (p.Lys823Asn) c.1350A>C (p.Lys450Asn) c.612A>C (p.Lys204Asn) c.2133A>C (p.Lys711Asn) n.370A>C c.2262A>C (p.Lys754Asn) c.2128+5838A>C (n.2128+5838A>C) n.2470A>C n.2678A>C c.1887A>C (p.Lys629Asn) c.912A>C (p.Lys304Asn) c.1626A>C (p.Lys542Asn) n.2422A>C n.2630A>C | |
1 | g.197427794A>G | CA422808790 | CRB1 | c.2469A>G (p.Lys823=) c.1350A>G (p.Lys450=) c.612A>G (p.Lys204=) c.2133A>G (p.Lys711=) n.370A>G c.2262A>G (p.Lys754=) c.2128+5838A>G (n.2128+5838A>G) n.2470A>G n.2678A>G c.1887A>G (p.Lys629=) c.912A>G (p.Lys304=) c.1626A>G (p.Lys542=) n.2422A>G n.2630A>G | |
1 | g.197427794A>T | CA344037585 | CRB1 | c.2469A>T (p.Lys823Asn) c.1350A>T (p.Lys450Asn) c.612A>T (p.Lys204Asn) c.2133A>T (p.Lys711Asn) n.370A>T c.2262A>T (p.Lys754Asn) c.2128+5838A>T (n.2128+5838A>T) n.2470A>T n.2678A>T c.1887A>T (p.Lys629Asn) c.912A>T (p.Lys304Asn) c.1626A>T (p.Lys542Asn) n.2422A>T n.2630A>T | |
1 | g.197427795A>C | CA344037588 | CRB1 | c.2470A>C (p.Ile824Leu) c.1351A>C (p.Ile451Leu) c.613A>C (p.Ile205Leu) c.2134A>C (p.Ile712Leu) n.371A>C c.2263A>C (p.Ile755Leu) c.2128+5839A>C (n.2128+5839A>C) n.2471A>C n.2679A>C c.1888A>C (p.Ile630Leu) c.913A>C (p.Ile305Leu) c.1627A>C (p.Ile543Leu) n.2423A>C n.2631A>C | |
1 | g.197427795A>G | CA344037591 | CRB1 | c.2470A>G (p.Ile824Val) c.1351A>G (p.Ile451Val) c.613A>G (p.Ile205Val) c.2134A>G (p.Ile712Val) n.371A>G c.2263A>G (p.Ile755Val) c.2128+5839A>G (n.2128+5839A>G) n.2471A>G n.2679A>G c.1888A>G (p.Ile630Val) c.913A>G (p.Ile305Val) c.1627A>G (p.Ile543Val) n.2423A>G n.2631A>G | |
1 | g.197427795A>T | CA344037595 | CRB1 | c.2470A>T (p.Ile824Phe) c.1351A>T (p.Ile451Phe) c.613A>T (p.Ile205Phe) c.2134A>T (p.Ile712Phe) n.371A>T c.2263A>T (p.Ile755Phe) c.2128+5839A>T (n.2128+5839A>T) n.2471A>T n.2679A>T c.1888A>T (p.Ile630Phe) c.913A>T (p.Ile305Phe) c.1627A>T (p.Ile543Phe) n.2423A>T n.2631A>T | |
1 | g.197427796T>A | CA344037599 | CRB1 | c.2471T>A (p.Ile824Asn) c.1352T>A (p.Ile451Asn) c.614T>A (p.Ile205Asn) c.2135T>A (p.Ile712Asn) n.372T>A c.2264T>A (p.Ile755Asn) c.2128+5840T>A (n.2128+5840T>A) n.2472T>A n.2680T>A c.1889T>A (p.Ile630Asn) c.914T>A (p.Ile305Asn) c.1628T>A (p.Ile543Asn) n.2424T>A n.2632T>A | |
1 | g.197427796T>C | CA344037603 | CRB1 | c.2471T>C (p.Ile824Thr) c.1352T>C (p.Ile451Thr) c.614T>C (p.Ile205Thr) c.2135T>C (p.Ile712Thr) n.372T>C c.2264T>C (p.Ile755Thr) c.2128+5840T>C (n.2128+5840T>C) n.2472T>C n.2680T>C c.1889T>C (p.Ile630Thr) c.914T>C (p.Ile305Thr) c.1628T>C (p.Ile543Thr) n.2424T>C n.2632T>C | |
1 | g.197427796T>G | CA344037605 | CRB1 | c.2471T>G (p.Ile824Ser) c.1352T>G (p.Ile451Ser) c.614T>G (p.Ile205Ser) c.2135T>G (p.Ile712Ser) n.372T>G c.2264T>G (p.Ile755Ser) c.2128+5840T>G (n.2128+5840T>G) n.2472T>G n.2680T>G c.1889T>G (p.Ile630Ser) c.914T>G (p.Ile305Ser) c.1628T>G (p.Ile543Ser) n.2424T>G n.2632T>G | |
1 | g.197427797C>A | CA422808797 | CRB1 | c.2472C>A (p.Ile824=) c.1353C>A (p.Ile451=) c.615C>A (p.Ile205=) c.2136C>A (p.Ile712=) n.373C>A c.2265C>A (p.Ile755=) c.2128+5841C>A (n.2128+5841C>A) n.2473C>A n.2681C>A c.1890C>A (p.Ile630=) c.915C>A (p.Ile305=) c.1629C>A (p.Ile543=) n.2425C>A n.2633C>A | |
1 | g.197427797C= | CA1218066281 | CRB1 | c.2472C= (p.Ile824=) c.1353C= (p.Ile451=) c.615C= (p.Ile205=) c.2136C= (p.Ile712=) n.373C= c.2265C= (p.Ile755=) c.2128+5841C= (n.2128+5841C=) n.2473C= n.2681C= c.1890C= (p.Ile630=) c.915C= (p.Ile305=) c.1629C= (p.Ile543=) n.2425C= n.2633C= | |
1 | g.197427797C>G | CA344037609 | CRB1 | c.2472C>G (p.Ile824Met) c.1353C>G (p.Ile451Met) c.615C>G (p.Ile205Met) c.2136C>G (p.Ile712Met) n.373C>G c.2265C>G (p.Ile755Met) c.2128+5841C>G (n.2128+5841C>G) n.2473C>G n.2681C>G c.1890C>G (p.Ile630Met) c.915C>G (p.Ile305Met) c.1629C>G (p.Ile543Met) n.2425C>G n.2633C>G | COSMIC |
1 | g.197427797C>T | CA1312124 | CRB1 | c.2472C>T (p.Ile824=) c.1353C>T (p.Ile451=) c.615C>T (p.Ile205=) c.2136C>T (p.Ile712=) n.373C>T c.2265C>T (p.Ile755=) c.2128+5841C>T (n.2128+5841C>T) n.2473C>T n.2681C>T c.1890C>T (p.Ile630=) c.915C>T (p.Ile305=) c.1629C>T (p.Ile543=) n.2425C>T n.2633C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.197427798G>A | CA1312125 | CRB1 | c.2473G>A (p.Glu825Lys) c.1354G>A (p.Glu452Lys) c.616G>A (p.Glu206Lys) c.2137G>A (p.Glu713Lys) n.374G>A c.2266G>A (p.Glu756Lys) c.2128+5842G>A (n.2128+5842G>A) n.2474G>A n.2682G>A c.1891G>A (p.Glu631Lys) c.916G>A (p.Glu306Lys) c.1630G>A (p.Glu544Lys) n.2426G>A n.2634G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427798G>C | CA344037616 | CRB1 | c.2473G>C (p.Glu825Gln) c.1354G>C (p.Glu452Gln) c.616G>C (p.Glu206Gln) c.2137G>C (p.Glu713Gln) n.374G>C c.2266G>C (p.Glu756Gln) c.2128+5842G>C (n.2128+5842G>C) n.2474G>C n.2682G>C c.1891G>C (p.Glu631Gln) c.916G>C (p.Glu306Gln) c.1630G>C (p.Glu544Gln) n.2426G>C n.2634G>C | |
1 | g.197427798G= | CA1143578896 | CRB1 | c.2473G= (p.Glu825=) c.1354G= (p.Glu452=) c.616G= (p.Glu206=) c.2137G= (p.Glu713=) n.374G= c.2266G= (p.Glu756=) c.2128+5842G= (n.2128+5842G=) n.2474G= n.2682G= c.1891G= (p.Glu631=) c.916G= (p.Glu306=) c.1630G= (p.Glu544=) n.2426G= n.2634G= | |
1 | g.197427798G>T | CA344037620 | CRB1 | c.2473G>T (p.Glu825Ter) c.1354G>T (p.Glu452Ter) c.616G>T (p.Glu206Ter) c.2137G>T (p.Glu713Ter) n.374G>T c.2266G>T (p.Glu756Ter) c.2128+5842G>T (n.2128+5842G>T) n.2474G>T n.2682G>T c.1891G>T (p.Glu631Ter) c.916G>T (p.Glu306Ter) c.1630G>T (p.Glu544Ter) n.2426G>T n.2634G>T | COSMIC COSMIC |
1 | g.197427799A= | CA1218066285 | CRB1 | c.2474A= (p.Glu825=) c.1355A= (p.Glu452=) c.617A= (p.Glu206=) c.2138A= (p.Glu713=) n.375A= c.2267A= (p.Glu756=) c.2128+5843A= (n.2128+5843A=) n.2475A= n.2683A= c.1892A= (p.Glu631=) c.917A= (p.Glu306=) c.1631A= (p.Glu544=) n.2427A= n.2635A= | |
1 | g.197427799A>C | CA344037623 | CRB1 | c.2474A>C (p.Glu825Ala) c.1355A>C (p.Glu452Ala) c.617A>C (p.Glu206Ala) c.2138A>C (p.Glu713Ala) n.375A>C c.2267A>C (p.Glu756Ala) c.2128+5843A>C (n.2128+5843A>C) n.2475A>C n.2683A>C c.1892A>C (p.Glu631Ala) c.917A>C (p.Glu306Ala) c.1631A>C (p.Glu544Ala) n.2427A>C n.2635A>C | |
1 | g.197427799A>G | CA344037628 | CRB1 | c.2474A>G (p.Glu825Gly) c.1355A>G (p.Glu452Gly) c.617A>G (p.Glu206Gly) c.2138A>G (p.Glu713Gly) n.375A>G c.2267A>G (p.Glu756Gly) c.2128+5843A>G (n.2128+5843A>G) n.2475A>G n.2683A>G c.1892A>G (p.Glu631Gly) c.917A>G (p.Glu306Gly) c.1631A>G (p.Glu544Gly) n.2427A>G n.2635A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427799A>T | CA344037631 | CRB1 | c.2474A>T (p.Glu825Val) c.1355A>T (p.Glu452Val) c.617A>T (p.Glu206Val) c.2138A>T (p.Glu713Val) n.375A>T c.2267A>T (p.Glu756Val) c.2128+5843A>T (n.2128+5843A>T) n.2475A>T n.2683A>T c.1892A>T (p.Glu631Val) c.917A>T (p.Glu306Val) c.1631A>T (p.Glu544Val) n.2427A>T n.2635A>T | |
1 | g.197427800A>C | CA344037635 | CRB1 | c.2475A>C (p.Glu825Asp) c.1356A>C (p.Glu452Asp) c.618A>C (p.Glu206Asp) c.2139A>C (p.Glu713Asp) n.376A>C c.2268A>C (p.Glu756Asp) c.2128+5844A>C (n.2128+5844A>C) n.2476A>C n.2684A>C c.1893A>C (p.Glu631Asp) c.918A>C (p.Glu306Asp) c.1632A>C (p.Glu544Asp) n.2428A>C n.2636A>C | |
1 | g.197427800A>G | CA422808801 | CRB1 | c.2475A>G (p.Glu825=) c.1356A>G (p.Glu452=) c.618A>G (p.Glu206=) c.2139A>G (p.Glu713=) n.376A>G c.2268A>G (p.Glu756=) c.2128+5844A>G (n.2128+5844A>G) n.2476A>G n.2684A>G c.1893A>G (p.Glu631=) c.918A>G (p.Glu306=) c.1632A>G (p.Glu544=) n.2428A>G n.2636A>G | |
1 | g.197427800A>T | CA344037637 | CRB1 | c.2475A>T (p.Glu825Asp) c.1356A>T (p.Glu452Asp) c.618A>T (p.Glu206Asp) c.2139A>T (p.Glu713Asp) n.376A>T c.2268A>T (p.Glu756Asp) c.2128+5844A>T (n.2128+5844A>T) n.2476A>T n.2684A>T c.1893A>T (p.Glu631Asp) c.918A>T (p.Glu306Asp) c.1632A>T (p.Glu544Asp) n.2428A>T n.2636A>T | |
1 | g.197427801A>C | CA344037641 | CRB1 | c.2476A>C (p.Lys826Gln) c.1357A>C (p.Lys453Gln) c.619A>C (p.Lys207Gln) c.2140A>C (p.Lys714Gln) n.377A>C c.2269A>C (p.Lys757Gln) c.2128+5845A>C (n.2128+5845A>C) n.2477A>C n.2685A>C c.1894A>C (p.Lys632Gln) c.919A>C (p.Lys307Gln) c.1633A>C (p.Lys545Gln) n.2429A>C n.2637A>C | |
1 | g.197427801A>G | CA344037644 | CRB1 | c.2476A>G (p.Lys826Glu) c.1357A>G (p.Lys453Glu) c.619A>G (p.Lys207Glu) c.2140A>G (p.Lys714Glu) n.377A>G c.2269A>G (p.Lys757Glu) c.2128+5845A>G (n.2128+5845A>G) n.2477A>G n.2685A>G c.1894A>G (p.Lys632Glu) c.919A>G (p.Lys307Glu) c.1633A>G (p.Lys545Glu) n.2429A>G n.2637A>G | |
1 | g.197427801A>T | CA344037645 | CRB1 | c.2476A>T (p.Lys826Ter) c.1357A>T (p.Lys453Ter) c.619A>T (p.Lys207Ter) c.2140A>T (p.Lys714Ter) n.377A>T c.2269A>T (p.Lys757Ter) c.2128+5845A>T (n.2128+5845A>T) n.2477A>T n.2685A>T c.1894A>T (p.Lys632Ter) c.919A>T (p.Lys307Ter) c.1633A>T (p.Lys545Ter) n.2429A>T n.2637A>T | |
1 | g.197427802A>C | CA344037650 | CRB1 | c.2477A>C (p.Lys826Thr) c.1358A>C (p.Lys453Thr) c.620A>C (p.Lys207Thr) c.2141A>C (p.Lys714Thr) n.378A>C c.2270A>C (p.Lys757Thr) c.2128+5846A>C (n.2128+5846A>C) n.2478A>C n.2686A>C c.1895A>C (p.Lys632Thr) c.920A>C (p.Lys307Thr) c.1634A>C (p.Lys545Thr) n.2430A>C n.2638A>C | |
1 | g.197427802A>G | CA344037651 | CRB1 | c.2477A>G (p.Lys826Arg) c.1358A>G (p.Lys453Arg) c.620A>G (p.Lys207Arg) c.2141A>G (p.Lys714Arg) n.378A>G c.2270A>G (p.Lys757Arg) c.2128+5846A>G (n.2128+5846A>G) n.2478A>G n.2686A>G c.1895A>G (p.Lys632Arg) c.920A>G (p.Lys307Arg) c.1634A>G (p.Lys545Arg) n.2430A>G n.2638A>G | |
1 | g.197427802A>T | CA344037654 | CRB1 | c.2477A>T (p.Lys826Met) c.1358A>T (p.Lys453Met) c.620A>T (p.Lys207Met) c.2141A>T (p.Lys714Met) n.378A>T c.2270A>T (p.Lys757Met) c.2128+5846A>T (n.2128+5846A>T) n.2478A>T n.2686A>T c.1895A>T (p.Lys632Met) c.920A>T (p.Lys307Met) c.1634A>T (p.Lys545Met) n.2430A>T n.2638A>T | |
1 | g.197427803G>A | CA422808806 | CRB1 | c.2478G>A (p.Lys826=) c.1359G>A (p.Lys453=) c.621G>A (p.Lys207=) c.2142G>A (p.Lys714=) n.379G>A c.2271G>A (p.Lys757=) c.2128+5847G>A (n.2128+5847G>A) n.2479G>A n.2687G>A c.1896G>A (p.Lys632=) c.921G>A (p.Lys307=) c.1635G>A (p.Lys545=) n.2431G>A n.2639G>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.197427803G>C | CA344037660 | CRB1 | c.2478G>C (p.Lys826Asn) c.1359G>C (p.Lys453Asn) c.621G>C (p.Lys207Asn) c.2142G>C (p.Lys714Asn) n.379G>C c.2271G>C (p.Lys757Asn) c.2128+5847G>C (n.2128+5847G>C) n.2479G>C n.2687G>C c.1896G>C (p.Lys632Asn) c.921G>C (p.Lys307Asn) c.1635G>C (p.Lys545Asn) n.2431G>C n.2639G>C | dbSNP |
1 | g.197427803G= | CA1218066288 | CRB1 | c.2478G= (p.Lys826=) c.1359G= (p.Lys453=) c.621G= (p.Lys207=) c.2142G= (p.Lys714=) n.379G= c.2271G= (p.Lys757=) c.2128+5847G= (n.2128+5847G=) n.2479G= n.2687G= c.1896G= (p.Lys632=) c.921G= (p.Lys307=) c.1635G= (p.Lys545=) n.2431G= n.2639G= | |
1 | g.197427803G>T | CA344037662 | CRB1 | c.2478G>T (p.Lys826Asn) c.1359G>T (p.Lys453Asn) c.621G>T (p.Lys207Asn) c.2142G>T (p.Lys714Asn) n.379G>T c.2271G>T (p.Lys757Asn) c.2128+5847G>T (n.2128+5847G>T) n.2479G>T n.2687G>T c.1896G>T (p.Lys632Asn) c.921G>T (p.Lys307Asn) c.1635G>T (p.Lys545Asn) n.2431G>T n.2639G>T | |
1 | g.197427804G>A | CA1312126 | CRB1 | c.2479G>A (p.Gly827Arg) c.1360G>A (p.Gly454Arg) c.622G>A (p.Gly208Arg) c.2143G>A (p.Gly715Arg) n.380G>A c.2272G>A (p.Gly758Arg) c.2128+5848G>A (n.2128+5848G>A) n.2480G>A n.2688G>A c.1897G>A (p.Gly633Arg) c.922G>A (p.Gly308Arg) c.1636G>A (p.Gly546Arg) n.2432G>A n.2640G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427804G>C | CA344037668 | CRB1 | c.2479G>C (p.Gly827Arg) c.1360G>C (p.Gly454Arg) c.622G>C (p.Gly208Arg) c.2143G>C (p.Gly715Arg) n.380G>C c.2272G>C (p.Gly758Arg) c.2128+5848G>C (n.2128+5848G>C) n.2480G>C n.2688G>C c.1897G>C (p.Gly633Arg) c.922G>C (p.Gly308Arg) c.1636G>C (p.Gly546Arg) n.2432G>C n.2640G>C | |
1 | g.197427804G= | CA1140762944 | CRB1 | c.2479G= (p.Gly827=) c.1360G= (p.Gly454=) c.622G= (p.Gly208=) c.2143G= (p.Gly715=) n.380G= c.2272G= (p.Gly758=) c.2128+5848G= (n.2128+5848G=) n.2480G= n.2688G= c.1897G= (p.Gly633=) c.922G= (p.Gly308=) c.1636G= (p.Gly546=) n.2432G= n.2640G= | |
1 | g.197427804G>T | CA228009 | CRB1 | c.2479G>T (p.Gly827Ter) c.1360G>T (p.Gly454Ter) c.622G>T (p.Gly208Ter) c.2143G>T (p.Gly715Ter) n.380G>T c.2272G>T (p.Gly758Ter) c.2128+5848G>T (n.2128+5848G>T) n.2480G>T n.2688G>T c.1897G>T (p.Gly633Ter) c.922G>T (p.Gly308Ter) c.1636G>T (p.Gly546Ter) n.2432G>T n.2640G>T | ClinVar dbSNP |
1 | g.197427805G>A | CA344037676 | CRB1 | c.2480G>A (p.Gly827Glu) c.1361G>A (p.Gly454Glu) c.623G>A (p.Gly208Glu) c.2144G>A (p.Gly715Glu) n.381G>A c.2273G>A (p.Gly758Glu) c.2128+5849G>A (n.2128+5849G>A) n.2481G>A n.2689G>A c.1898G>A (p.Gly633Glu) c.923G>A (p.Gly308Glu) c.1637G>A (p.Gly546Glu) n.2433G>A n.2641G>A | COSMIC COSMIC |
1 | g.197427805G>C | CA344037678 | CRB1 | c.2480G>C (p.Gly827Ala) c.1361G>C (p.Gly454Ala) c.623G>C (p.Gly208Ala) c.2144G>C (p.Gly715Ala) n.381G>C c.2273G>C (p.Gly758Ala) c.2128+5849G>C (n.2128+5849G>C) n.2481G>C n.2689G>C c.1898G>C (p.Gly633Ala) c.923G>C (p.Gly308Ala) c.1637G>C (p.Gly546Ala) n.2433G>C n.2641G>C | dbSNP |
1 | g.197427805G= | CA1218066291 | CRB1 | c.2480G= (p.Gly827=) c.1361G= (p.Gly454=) c.623G= (p.Gly208=) c.2144G= (p.Gly715=) n.381G= c.2273G= (p.Gly758=) c.2128+5849G= (n.2128+5849G=) n.2481G= n.2689G= c.1898G= (p.Gly633=) c.923G= (p.Gly308=) c.1637G= (p.Gly546=) n.2433G= n.2641G= | |
1 | g.197427805G>T | CA344037683 | CRB1 | c.2480G>T (p.Gly827Val) c.1361G>T (p.Gly454Val) c.623G>T (p.Gly208Val) c.2144G>T (p.Gly715Val) n.381G>T c.2273G>T (p.Gly758Val) c.2128+5849G>T (n.2128+5849G>T) n.2481G>T n.2689G>T c.1898G>T (p.Gly633Val) c.923G>T (p.Gly308Val) c.1637G>T (p.Gly546Val) n.2433G>T n.2641G>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427806A>C | CA422808811 | CRB1 | c.2481A>C (p.Gly827=) c.1362A>C (p.Gly454=) c.624A>C (p.Gly208=) c.2145A>C (p.Gly715=) n.382A>C c.2274A>C (p.Gly758=) c.2128+5850A>C (n.2128+5850A>C) n.2482A>C n.2690A>C c.1899A>C (p.Gly633=) c.924A>C (p.Gly308=) c.1638A>C (p.Gly546=) n.2434A>C n.2642A>C | |
1 | g.197427806A>G | CA422808809 | CRB1 | c.2481A>G (p.Gly827=) c.1362A>G (p.Gly454=) c.624A>G (p.Gly208=) c.2145A>G (p.Gly715=) n.382A>G c.2274A>G (p.Gly758=) c.2128+5850A>G (n.2128+5850A>G) n.2482A>G n.2690A>G c.1899A>G (p.Gly633=) c.924A>G (p.Gly308=) c.1638A>G (p.Gly546=) n.2434A>G n.2642A>G | |
1 | g.197427806A>T | CA422808810 | CRB1 | c.2481A>T (p.Gly827=) c.1362A>T (p.Gly454=) c.624A>T (p.Gly208=) c.2145A>T (p.Gly715=) n.382A>T c.2274A>T (p.Gly758=) c.2128+5850A>T (n.2128+5850A>T) n.2482A>T n.2690A>T c.1899A>T (p.Gly633=) c.924A>T (p.Gly308=) c.1638A>T (p.Gly546=) n.2434A>T n.2642A>T | |
1 | g.197427807G>A | CA344037687 | CRB1 | c.2482G>A (p.Asp828Asn) c.1363G>A (p.Asp455Asn) c.625G>A (p.Asp209Asn) c.2146G>A (p.Asp716Asn) n.383G>A c.2275G>A (p.Asp759Asn) c.2128+5851G>A (n.2128+5851G>A) n.2483G>A n.2691G>A c.1900G>A (p.Asp634Asn) c.925G>A (p.Asp309Asn) c.1639G>A (p.Asp547Asn) n.2435G>A n.2643G>A | |
1 | g.197427807G>C | CA344037688 | CRB1 | c.2482G>C (p.Asp828His) c.1363G>C (p.Asp455His) c.625G>C (p.Asp209His) c.2146G>C (p.Asp716His) n.383G>C c.2275G>C (p.Asp759His) c.2128+5851G>C (n.2128+5851G>C) n.2483G>C n.2691G>C c.1900G>C (p.Asp634His) c.925G>C (p.Asp309His) c.1639G>C (p.Asp547His) n.2435G>C n.2643G>C | |
1 | g.197427807G>T | CA344037692 | CRB1 | c.2482G>T (p.Asp828Tyr) c.1363G>T (p.Asp455Tyr) c.625G>T (p.Asp209Tyr) c.2146G>T (p.Asp716Tyr) n.383G>T c.2275G>T (p.Asp759Tyr) c.2128+5851G>T (n.2128+5851G>T) n.2483G>T n.2691G>T c.1900G>T (p.Asp634Tyr) c.925G>T (p.Asp309Tyr) c.1639G>T (p.Asp547Tyr) n.2435G>T n.2643G>T | gnomAD v4 |
1 | g.197427808A= | CA1218066293 | CRB1 | c.2483A= (p.Asp828=) c.1364A= (p.Asp455=) c.626A= (p.Asp209=) c.2147A= (p.Asp716=) n.384A= c.2276A= (p.Asp759=) c.2128+5852A= (n.2128+5852A=) n.2484A= n.2692A= c.1901A= (p.Asp634=) c.926A= (p.Asp309=) c.1640A= (p.Asp547=) n.2436A= n.2644A= | |
1 | g.197427808A>C | CA1312127 | CRB1 | c.2483A>C (p.Asp828Ala) c.1364A>C (p.Asp455Ala) c.626A>C (p.Asp209Ala) c.2147A>C (p.Asp716Ala) n.384A>C c.2276A>C (p.Asp759Ala) c.2128+5852A>C (n.2128+5852A>C) n.2484A>C n.2692A>C c.1901A>C (p.Asp634Ala) c.926A>C (p.Asp309Ala) c.1640A>C (p.Asp547Ala) n.2436A>C n.2644A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427808A>G | CA344037697 | CRB1 | c.2483A>G (p.Asp828Gly) c.1364A>G (p.Asp455Gly) c.626A>G (p.Asp209Gly) c.2147A>G (p.Asp716Gly) n.384A>G c.2276A>G (p.Asp759Gly) c.2128+5852A>G (n.2128+5852A>G) n.2484A>G n.2692A>G c.1901A>G (p.Asp634Gly) c.926A>G (p.Asp309Gly) c.1640A>G (p.Asp547Gly) n.2436A>G n.2644A>G | |
1 | g.197427808A>T | CA344037700 | CRB1 | c.2483A>T (p.Asp828Val) c.1364A>T (p.Asp455Val) c.626A>T (p.Asp209Val) c.2147A>T (p.Asp716Val) n.384A>T c.2276A>T (p.Asp759Val) c.2128+5852A>T (n.2128+5852A>T) n.2484A>T n.2692A>T c.1901A>T (p.Asp634Val) c.926A>T (p.Asp309Val) c.1640A>T (p.Asp547Val) n.2436A>T n.2644A>T | |
1 | g.197427809T>A | CA344037708 | CRB1 | c.2484T>A (p.Asp828Glu) c.1365T>A (p.Asp455Glu) c.627T>A (p.Asp209Glu) c.2148T>A (p.Asp716Glu) n.385T>A c.2277T>A (p.Asp759Glu) c.2128+5853T>A (n.2128+5853T>A) n.2485T>A n.2693T>A c.1902T>A (p.Asp634Glu) c.927T>A (p.Asp309Glu) c.1641T>A (p.Asp547Glu) n.2437T>A n.2645T>A | |
1 | g.197427809T>C | CA422808816 | CRB1 | c.2484T>C (p.Asp828=) c.1365T>C (p.Asp455=) c.627T>C (p.Asp209=) c.2148T>C (p.Asp716=) n.385T>C c.2277T>C (p.Asp759=) c.2128+5853T>C (n.2128+5853T>C) n.2485T>C n.2693T>C c.1902T>C (p.Asp634=) c.927T>C (p.Asp309=) c.1641T>C (p.Asp547=) n.2437T>C n.2645T>C | gnomAD v4 |
1 | g.197427809T>G | CA344037705 | CRB1 | c.2484T>G (p.Asp828Glu) c.1365T>G (p.Asp455Glu) c.627T>G (p.Asp209Glu) c.2148T>G (p.Asp716Glu) n.385T>G c.2277T>G (p.Asp759Glu) c.2128+5853T>G (n.2128+5853T>G) n.2485T>G n.2693T>G c.1902T>G (p.Asp634Glu) c.927T>G (p.Asp309Glu) c.1641T>G (p.Asp547Glu) n.2437T>G n.2645T>G | gnomAD v4 |
1 | g.197427810G>A | CA344037711 | CRB1 | c.2485G>A (p.Val829Ile) c.1366G>A (p.Val456Ile) c.628G>A (p.Val210Ile) c.2149G>A (p.Val717Ile) n.386G>A c.2278G>A (p.Val760Ile) c.2128+5854G>A (n.2128+5854G>A) n.2486G>A n.2694G>A c.1903G>A (p.Val635Ile) c.928G>A (p.Val310Ile) c.1642G>A (p.Val548Ile) n.2438G>A n.2646G>A | |
1 | g.197427810G>C | CA344037714 | CRB1 | c.2485G>C (p.Val829Leu) c.1366G>C (p.Val456Leu) c.628G>C (p.Val210Leu) c.2149G>C (p.Val717Leu) n.386G>C c.2278G>C (p.Val760Leu) c.2128+5854G>C (n.2128+5854G>C) n.2486G>C n.2694G>C c.1903G>C (p.Val635Leu) c.928G>C (p.Val310Leu) c.1642G>C (p.Val548Leu) n.2438G>C n.2646G>C | |
1 | g.197427810G>T | CA344037717 | CRB1 | c.2485G>T (p.Val829Phe) c.1366G>T (p.Val456Phe) c.628G>T (p.Val210Phe) c.2149G>T (p.Val717Phe) n.386G>T c.2278G>T (p.Val760Phe) c.2128+5854G>T (n.2128+5854G>T) n.2486G>T n.2694G>T c.1903G>T (p.Val635Phe) c.928G>T (p.Val310Phe) c.1642G>T (p.Val548Phe) n.2438G>T n.2646G>T | |
1 | g.197427811T>A | CA344037721 | CRB1 | c.2486T>A (p.Val829Asp) c.1367T>A (p.Val456Asp) c.629T>A (p.Val210Asp) c.2150T>A (p.Val717Asp) n.387T>A c.2279T>A (p.Val760Asp) c.2128+5855T>A (n.2128+5855T>A) n.2487T>A n.2695T>A c.1904T>A (p.Val635Asp) c.929T>A (p.Val310Asp) c.1643T>A (p.Val548Asp) n.2439T>A n.2647T>A | ClinVar dbSNP |
1 | g.197427811T>C | CA344037723 | CRB1 | c.2486T>C (p.Val829Ala) c.1367T>C (p.Val456Ala) c.629T>C (p.Val210Ala) c.2150T>C (p.Val717Ala) n.387T>C c.2279T>C (p.Val760Ala) c.2128+5855T>C (n.2128+5855T>C) n.2487T>C n.2695T>C c.1904T>C (p.Val635Ala) c.929T>C (p.Val310Ala) c.1643T>C (p.Val548Ala) n.2439T>C n.2647T>C | |
1 | g.197427811T>G | CA344037725 | CRB1 | c.2486T>G (p.Val829Gly) c.1367T>G (p.Val456Gly) c.629T>G (p.Val210Gly) c.2150T>G (p.Val717Gly) n.387T>G c.2279T>G (p.Val760Gly) c.2128+5855T>G (n.2128+5855T>G) n.2487T>G n.2695T>G c.1904T>G (p.Val635Gly) c.929T>G (p.Val310Gly) c.1643T>G (p.Val548Gly) n.2439T>G n.2647T>G | |
1 | g.197427811T= | CA1218066297 | CRB1 | c.2486T= (p.Val829=) c.1367T= (p.Val456=) c.629T= (p.Val210=) c.2150T= (p.Val717=) n.387T= c.2279T= (p.Val760=) c.2128+5855T= (n.2128+5855T=) n.2487T= n.2695T= c.1904T= (p.Val635=) c.929T= (p.Val310=) c.1643T= (p.Val548=) n.2439T= n.2647T= | |
1 | g.197427812C>A | CA422808825 | CRB1 | c.2487C>A (p.Val829=) c.1368C>A (p.Val456=) c.630C>A (p.Val210=) c.2151C>A (p.Val717=) n.388C>A c.2280C>A (p.Val760=) c.2128+5856C>A (n.2128+5856C>A) n.2488C>A n.2696C>A c.1905C>A (p.Val635=) c.930C>A (p.Val310=) c.1644C>A (p.Val548=) n.2440C>A n.2648C>A | gnomAD v4 |
1 | g.197427812C>G | CA422808823 | CRB1 | c.2487C>G (p.Val829=) c.1368C>G (p.Val456=) c.630C>G (p.Val210=) c.2151C>G (p.Val717=) n.388C>G c.2280C>G (p.Val760=) c.2128+5856C>G (n.2128+5856C>G) n.2488C>G n.2696C>G c.1905C>G (p.Val635=) c.930C>G (p.Val310=) c.1644C>G (p.Val548=) n.2440C>G n.2648C>G | |
1 | g.197427812C>T | CA422808824 | CRB1 | c.2487C>T (p.Val829=) c.1368C>T (p.Val456=) c.630C>T (p.Val210=) c.2151C>T (p.Val717=) n.388C>T c.2280C>T (p.Val760=) c.2128+5856C>T (n.2128+5856C>T) n.2488C>T n.2696C>T c.1905C>T (p.Val635=) c.930C>T (p.Val310=) c.1644C>T (p.Val548=) n.2440C>T n.2648C>T | ClinVar |
1 | g.197427813A= | CA1218066303 | CRB1 | c.2488A= (p.Ile830=) c.1369A= (p.Ile457=) c.631A= (p.Ile211=) c.2152A= (p.Ile718=) n.389A= c.2281A= (p.Ile761=) c.2128+5857A= (n.2128+5857A=) n.2489A= n.2697A= c.1906A= (p.Ile636=) c.931A= (p.Ile311=) c.1645A= (p.Ile549=) n.2441A= n.2649A= | |
1 | g.197427813A>C | CA344037730 | CRB1 | c.2488A>C (p.Ile830Leu) c.1369A>C (p.Ile457Leu) c.631A>C (p.Ile211Leu) c.2152A>C (p.Ile718Leu) n.389A>C c.2281A>C (p.Ile761Leu) c.2128+5857A>C (n.2128+5857A>C) n.2489A>C n.2697A>C c.1906A>C (p.Ile636Leu) c.931A>C (p.Ile311Leu) c.1645A>C (p.Ile549Leu) n.2441A>C n.2649A>C | |
1 | g.197427813A>G | CA344037729 | CRB1 | c.2488A>G (p.Ile830Val) c.1369A>G (p.Ile457Val) c.631A>G (p.Ile211Val) c.2152A>G (p.Ile718Val) n.389A>G c.2281A>G (p.Ile761Val) c.2128+5857A>G (n.2128+5857A>G) n.2489A>G n.2697A>G c.1906A>G (p.Ile636Val) c.931A>G (p.Ile311Val) c.1645A>G (p.Ile549Val) n.2441A>G n.2649A>G | dbSNP |
1 | g.197427813A>T | CA1312128 | CRB1 | c.2488A>T (p.Ile830Phe) c.1369A>T (p.Ile457Phe) c.631A>T (p.Ile211Phe) c.2152A>T (p.Ile718Phe) n.389A>T c.2281A>T (p.Ile761Phe) c.2128+5857A>T (n.2128+5857A>T) n.2489A>T n.2697A>T c.1906A>T (p.Ile636Phe) c.931A>T (p.Ile311Phe) c.1645A>T (p.Ile549Phe) n.2441A>T n.2649A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427814T>A | CA344037732 | CRB1 | c.2489T>A (p.Ile830Asn) c.1370T>A (p.Ile457Asn) c.632T>A (p.Ile211Asn) c.2153T>A (p.Ile718Asn) n.390T>A c.2282T>A (p.Ile761Asn) c.2128+5858T>A (n.2128+5858T>A) n.2490T>A n.2698T>A c.1907T>A (p.Ile636Asn) c.932T>A (p.Ile311Asn) c.1646T>A (p.Ile549Asn) n.2442T>A n.2650T>A | ClinVar dbSNP |
1 | g.197427814T>C | CA344037733 | CRB1 | c.2489T>C (p.Ile830Thr) c.1370T>C (p.Ile457Thr) c.632T>C (p.Ile211Thr) c.2153T>C (p.Ile718Thr) n.390T>C c.2282T>C (p.Ile761Thr) c.2128+5858T>C (n.2128+5858T>C) n.2490T>C n.2698T>C c.1907T>C (p.Ile636Thr) c.932T>C (p.Ile311Thr) c.1646T>C (p.Ile549Thr) n.2442T>C n.2650T>C | |
1 | g.197427814T>G | CA344037735 | CRB1 | c.2489T>G (p.Ile830Ser) c.1370T>G (p.Ile457Ser) c.632T>G (p.Ile211Ser) c.2153T>G (p.Ile718Ser) n.390T>G c.2282T>G (p.Ile761Ser) c.2128+5858T>G (n.2128+5858T>G) n.2490T>G n.2698T>G c.1907T>G (p.Ile636Ser) c.932T>G (p.Ile311Ser) c.1646T>G (p.Ile549Ser) n.2442T>G n.2650T>G | |
1 | g.197427815_197427816del | CA2837994669 | CRB1 | c.2490_2491del (p.Tyr831HisfsTer6) c.1371_1372del (p.Tyr458HisfsTer6) c.633_634del (p.Tyr212HisfsTer6) c.2154_2155del (p.Tyr719HisfsTer6) n.391_392del c.2283_2284del (p.Tyr762HisfsTer6) c.2128+5859_2128+5860del (n.2128+5859_2128+5860del) n.2491_2492del n.2699_2700del c.1908_1909del (p.Tyr637HisfsTer6) c.933_934del (p.Tyr312HisfsTer6) c.1647_1648del (p.Tyr550HisfsTer6) n.2443_2444del n.2651_2652del | |
1 | g.197427815C>A | CA422808828 | CRB1 | c.2490C>A (p.Ile830=) c.1371C>A (p.Ile457=) c.633C>A (p.Ile211=) c.2154C>A (p.Ile718=) n.391C>A c.2283C>A (p.Ile761=) c.2128+5859C>A (n.2128+5859C>A) n.2491C>A n.2699C>A c.1908C>A (p.Ile636=) c.933C>A (p.Ile311=) c.1647C>A (p.Ile549=) n.2443C>A n.2651C>A | |
1 | g.197427815C>G | CA344037738 | CRB1 | c.2490C>G (p.Ile830Met) c.1371C>G (p.Ile457Met) c.633C>G (p.Ile211Met) c.2154C>G (p.Ile718Met) n.391C>G c.2283C>G (p.Ile761Met) c.2128+5859C>G (n.2128+5859C>G) n.2491C>G n.2699C>G c.1908C>G (p.Ile636Met) c.933C>G (p.Ile311Met) c.1647C>G (p.Ile549Met) n.2443C>G n.2651C>G | dbSNP COSMIC COSMIC |
1 | g.197427815C>T | CA422808830 | CRB1 | c.2490C>T (p.Ile830=) c.1371C>T (p.Ile457=) c.633C>T (p.Ile211=) c.2154C>T (p.Ile718=) n.391C>T c.2283C>T (p.Ile761=) c.2128+5859C>T (n.2128+5859C>T) n.2491C>T n.2699C>T c.1908C>T (p.Ile636=) c.933C>T (p.Ile311=) c.1647C>T (p.Ile549=) n.2443C>T n.2651C>T | |
1 | g.197427816T>A | CA344037743 | CRB1 | c.2491T>A (p.Tyr831Asn) c.1372T>A (p.Tyr458Asn) c.634T>A (p.Tyr212Asn) c.2155T>A (p.Tyr719Asn) n.392T>A c.2284T>A (p.Tyr762Asn) c.2128+5860T>A (n.2128+5860T>A) n.2492T>A n.2700T>A c.1909T>A (p.Tyr637Asn) c.934T>A (p.Tyr312Asn) c.1648T>A (p.Tyr550Asn) n.2444T>A n.2652T>A | |
1 | g.197427816T>C | CA344037746 | CRB1 | c.2491T>C (p.Tyr831His) c.1372T>C (p.Tyr458His) c.634T>C (p.Tyr212His) c.2155T>C (p.Tyr719His) n.392T>C c.2284T>C (p.Tyr762His) c.2128+5860T>C (n.2128+5860T>C) n.2492T>C n.2700T>C c.1909T>C (p.Tyr637His) c.934T>C (p.Tyr312His) c.1648T>C (p.Tyr550His) n.2444T>C n.2652T>C | dbSNP gnomAD v4 |
1 | g.197427816T>G | CA344037748 | CRB1 | c.2491T>G (p.Tyr831Asp) c.1372T>G (p.Tyr458Asp) c.634T>G (p.Tyr212Asp) c.2155T>G (p.Tyr719Asp) n.392T>G c.2284T>G (p.Tyr762Asp) c.2128+5860T>G (n.2128+5860T>G) n.2492T>G n.2700T>G c.1909T>G (p.Tyr637Asp) c.934T>G (p.Tyr312Asp) c.1648T>G (p.Tyr550Asp) n.2444T>G n.2652T>G | |
1 | g.197427816T= | CA1218066305 | CRB1 | c.2491T= (p.Tyr831=) c.1372T= (p.Tyr458=) c.634T= (p.Tyr212=) c.2155T= (p.Tyr719=) n.392T= c.2284T= (p.Tyr762=) c.2128+5860T= (n.2128+5860T=) n.2492T= n.2700T= c.1909T= (p.Tyr637=) c.934T= (p.Tyr312=) c.1648T= (p.Tyr550=) n.2444T= n.2652T= | |
1 | g.197427817A>C | CA344037751 | CRB1 | c.2492A>C (p.Tyr831Ser) c.1373A>C (p.Tyr458Ser) c.635A>C (p.Tyr212Ser) c.2156A>C (p.Tyr719Ser) n.393A>C c.2285A>C (p.Tyr762Ser) c.2128+5861A>C (n.2128+5861A>C) n.2493A>C n.2701A>C c.1910A>C (p.Tyr637Ser) c.935A>C (p.Tyr312Ser) c.1649A>C (p.Tyr550Ser) n.2445A>C n.2653A>C | |
1 | g.197427817A>G | CA344037753 | CRB1 | c.2492A>G (p.Tyr831Cys) c.1373A>G (p.Tyr458Cys) c.635A>G (p.Tyr212Cys) c.2156A>G (p.Tyr719Cys) n.393A>G c.2285A>G (p.Tyr762Cys) c.2128+5861A>G (n.2128+5861A>G) n.2493A>G n.2701A>G c.1910A>G (p.Tyr637Cys) c.935A>G (p.Tyr312Cys) c.1649A>G (p.Tyr550Cys) n.2445A>G n.2653A>G | |
1 | g.197427817A>T | CA344037752 | CRB1 | c.2492A>T (p.Tyr831Phe) c.1373A>T (p.Tyr458Phe) c.635A>T (p.Tyr212Phe) c.2156A>T (p.Tyr719Phe) n.393A>T c.2285A>T (p.Tyr762Phe) c.2128+5861A>T (n.2128+5861A>T) n.2493A>T n.2701A>T c.1910A>T (p.Tyr637Phe) c.935A>T (p.Tyr312Phe) c.1649A>T (p.Tyr550Phe) n.2445A>T n.2653A>T | |
1 | g.197427818C>A | CA344037754 | CRB1 | c.2493C>A (p.Tyr831Ter) c.1374C>A (p.Tyr458Ter) c.636C>A (p.Tyr212Ter) c.2157C>A (p.Tyr719Ter) n.394C>A c.2286C>A (p.Tyr762Ter) c.2128+5862C>A (n.2128+5862C>A) n.2494C>A n.2702C>A c.1911C>A (p.Tyr637Ter) c.936C>A (p.Tyr312Ter) c.1650C>A (p.Tyr550Ter) n.2446C>A n.2654C>A | |
1 | g.197427818C>G | CA344037756 | CRB1 | c.2493C>G (p.Tyr831Ter) c.1374C>G (p.Tyr458Ter) c.636C>G (p.Tyr212Ter) c.2157C>G (p.Tyr719Ter) n.394C>G c.2286C>G (p.Tyr762Ter) c.2128+5862C>G (n.2128+5862C>G) n.2494C>G n.2702C>G c.1911C>G (p.Tyr637Ter) c.936C>G (p.Tyr312Ter) c.1650C>G (p.Tyr550Ter) n.2446C>G n.2654C>G | |
1 | g.197427818C>T | CA422808834 | CRB1 | c.2493C>T (p.Tyr831=) c.1374C>T (p.Tyr458=) c.636C>T (p.Tyr212=) c.2157C>T (p.Tyr719=) n.394C>T c.2286C>T (p.Tyr762=) c.2128+5862C>T (n.2128+5862C>T) n.2494C>T n.2702C>T c.1911C>T (p.Tyr637=) c.936C>T (p.Tyr312=) c.1650C>T (p.Tyr550=) n.2446C>T n.2654C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427819A>C | CA344037759 | CRB1 | c.2494A>C (p.Ile832Leu) c.1375A>C (p.Ile459Leu) c.637A>C (p.Ile213Leu) c.2158A>C (p.Ile720Leu) n.395A>C c.2287A>C (p.Ile763Leu) c.2128+5863A>C (n.2128+5863A>C) n.2495A>C n.2703A>C c.1912A>C (p.Ile638Leu) c.937A>C (p.Ile313Leu) c.1651A>C (p.Ile551Leu) n.2447A>C n.2655A>C | gnomAD v4 |
1 | g.197427819A>G | CA344037760 | CRB1 | c.2494A>G (p.Ile832Val) c.1375A>G (p.Ile459Val) c.637A>G (p.Ile213Val) c.2158A>G (p.Ile720Val) n.395A>G c.2287A>G (p.Ile763Val) c.2128+5863A>G (n.2128+5863A>G) n.2495A>G n.2703A>G c.1912A>G (p.Ile638Val) c.937A>G (p.Ile313Val) c.1651A>G (p.Ile551Val) n.2447A>G n.2655A>G | gnomAD v4 |
1 | g.197427819A>T | CA344037762 | CRB1 | c.2494A>T (p.Ile832Phe) c.1375A>T (p.Ile459Phe) c.637A>T (p.Ile213Phe) c.2158A>T (p.Ile720Phe) n.395A>T c.2287A>T (p.Ile763Phe) c.2128+5863A>T (n.2128+5863A>T) n.2495A>T n.2703A>T c.1912A>T (p.Ile638Phe) c.937A>T (p.Ile313Phe) c.1651A>T (p.Ile551Phe) n.2447A>T n.2655A>T | |
1 | g.197427820T>A | CA344037763 | CRB1 | c.2495T>A (p.Ile832Asn) c.1376T>A (p.Ile459Asn) c.638T>A (p.Ile213Asn) c.2159T>A (p.Ile720Asn) n.396T>A c.2288T>A (p.Ile763Asn) c.2128+5864T>A (n.2128+5864T>A) n.2496T>A n.2704T>A c.1913T>A (p.Ile638Asn) c.938T>A (p.Ile313Asn) c.1652T>A (p.Ile551Asn) n.2448T>A n.2656T>A | |
1 | g.197427820T>C | CA344037770 | CRB1 | c.2495T>C (p.Ile832Thr) c.1376T>C (p.Ile459Thr) c.638T>C (p.Ile213Thr) c.2159T>C (p.Ile720Thr) n.396T>C c.2288T>C (p.Ile763Thr) c.2128+5864T>C (n.2128+5864T>C) n.2496T>C n.2704T>C c.1913T>C (p.Ile638Thr) c.938T>C (p.Ile313Thr) c.1652T>C (p.Ile551Thr) n.2448T>C n.2656T>C | gnomAD v4 |
1 | g.197427820T>G | CA344037773 | CRB1 | c.2495T>G (p.Ile832Ser) c.1376T>G (p.Ile459Ser) c.638T>G (p.Ile213Ser) c.2159T>G (p.Ile720Ser) n.396T>G c.2288T>G (p.Ile763Ser) c.2128+5864T>G (n.2128+5864T>G) n.2496T>G n.2704T>G c.1913T>G (p.Ile638Ser) c.938T>G (p.Ile313Ser) c.1652T>G (p.Ile551Ser) n.2448T>G n.2656T>G | |
1 | g.197427821T>A | CA422808838 | CRB1 | c.2496T>A (p.Ile832=) c.1377T>A (p.Ile459=) c.639T>A (p.Ile213=) c.2160T>A (p.Ile720=) n.397T>A c.2289T>A (p.Ile763=) c.2128+5865T>A (n.2128+5865T>A) n.2497T>A n.2705T>A c.1914T>A (p.Ile638=) c.939T>A (p.Ile313=) c.1653T>A (p.Ile551=) n.2449T>A n.2657T>A | |
1 | g.197427821T>C | CA422808839 | CRB1 | c.2496T>C (p.Ile832=) c.1377T>C (p.Ile459=) c.639T>C (p.Ile213=) c.2160T>C (p.Ile720=) n.397T>C c.2289T>C (p.Ile763=) c.2128+5865T>C (n.2128+5865T>C) n.2497T>C n.2705T>C c.1914T>C (p.Ile638=) c.939T>C (p.Ile313=) c.1653T>C (p.Ile551=) n.2449T>C n.2657T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427821T>G | CA344037776 | CRB1 | c.2496T>G (p.Ile832Met) c.1377T>G (p.Ile459Met) c.639T>G (p.Ile213Met) c.2160T>G (p.Ile720Met) n.397T>G c.2289T>G (p.Ile763Met) c.2128+5865T>G (n.2128+5865T>G) n.2497T>G n.2705T>G c.1914T>G (p.Ile638Met) c.939T>G (p.Ile313Met) c.1653T>G (p.Ile551Met) n.2449T>G n.2657T>G | |
1 | g.197427821T= | CA1218066307 | CRB1 | c.2496T= (p.Ile832=) c.1377T= (p.Ile459=) c.639T= (p.Ile213=) c.2160T= (p.Ile720=) n.397T= c.2289T= (p.Ile763=) c.2128+5865T= (n.2128+5865T=) n.2497T= n.2705T= c.1914T= (p.Ile638=) c.939T= (p.Ile313=) c.1653T= (p.Ile551=) n.2449T= n.2657T= | |
1 | g.197427822G>A | CA344037779 | CRB1 | c.2497G>A (p.Gly833Ser) c.1378G>A (p.Gly460Ser) c.640G>A (p.Gly214Ser) c.2161G>A (p.Gly721Ser) n.398G>A c.2290G>A (p.Gly764Ser) c.2128+5866G>A (n.2128+5866G>A) n.2498G>A n.2706G>A c.1915G>A (p.Gly639Ser) c.940G>A (p.Gly314Ser) c.1654G>A (p.Gly552Ser) n.2450G>A n.2658G>A | |
1 | g.197427822G>C | CA344037792 | CRB1 | c.2497G>C (p.Gly833Arg) c.1378G>C (p.Gly460Arg) c.640G>C (p.Gly214Arg) c.2161G>C (p.Gly721Arg) n.398G>C c.2290G>C (p.Gly764Arg) c.2128+5866G>C (n.2128+5866G>C) n.2498G>C n.2706G>C c.1915G>C (p.Gly639Arg) c.940G>C (p.Gly314Arg) c.1654G>C (p.Gly552Arg) n.2450G>C n.2658G>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427822G= | CA1218066309 | CRB1 | c.2497G= (p.Gly833=) c.1378G= (p.Gly460=) c.640G= (p.Gly214=) c.2161G= (p.Gly721=) n.398G= c.2290G= (p.Gly764=) c.2128+5866G= (n.2128+5866G=) n.2498G= n.2706G= c.1915G= (p.Gly639=) c.940G= (p.Gly314=) c.1654G= (p.Gly552=) n.2450G= n.2658G= | |
1 | g.197427822G>T | CA344037794 | CRB1 | c.2497G>T (p.Gly833Cys) c.1378G>T (p.Gly460Cys) c.640G>T (p.Gly214Cys) c.2161G>T (p.Gly721Cys) n.398G>T c.2290G>T (p.Gly764Cys) c.2128+5866G>T (n.2128+5866G>T) n.2498G>T n.2706G>T c.1915G>T (p.Gly639Cys) c.940G>T (p.Gly314Cys) c.1654G>T (p.Gly552Cys) n.2450G>T n.2658G>T | ClinVar dbSNP COSMIC COSMIC |
1 | g.197427823G>A | CA344037805 | CRB1 | c.2498G>A (p.Gly833Asp) c.1379G>A (p.Gly460Asp) c.641G>A (p.Gly214Asp) c.2162G>A (p.Gly721Asp) n.399G>A c.2291G>A (p.Gly764Asp) c.2128+5867G>A (n.2128+5867G>A) n.2499G>A n.2707G>A c.1916G>A (p.Gly639Asp) c.941G>A (p.Gly314Asp) c.1655G>A (p.Gly552Asp) n.2451G>A n.2659G>A | ClinVar dbSNP |
1 | g.197427823G>C | CA344037798 | CRB1 | c.2498G>C (p.Gly833Ala) c.1379G>C (p.Gly460Ala) c.641G>C (p.Gly214Ala) c.2162G>C (p.Gly721Ala) n.399G>C c.2291G>C (p.Gly764Ala) c.2128+5867G>C (n.2128+5867G>C) n.2499G>C n.2707G>C c.1916G>C (p.Gly639Ala) c.941G>C (p.Gly314Ala) c.1655G>C (p.Gly552Ala) n.2451G>C n.2659G>C | |
1 | g.197427823G= | CA1218066313 | CRB1 | c.2498G= (p.Gly833=) c.1379G= (p.Gly460=) c.641G= (p.Gly214=) c.2162G= (p.Gly721=) n.399G= c.2291G= (p.Gly764=) c.2128+5867G= (n.2128+5867G=) n.2499G= n.2707G= c.1916G= (p.Gly639=) c.941G= (p.Gly314=) c.1655G= (p.Gly552=) n.2451G= n.2659G= | |
1 | g.197427823G>T | CA344037803 | CRB1 | c.2498G>T (p.Gly833Val) c.1379G>T (p.Gly460Val) c.641G>T (p.Gly214Val) c.2162G>T (p.Gly721Val) n.399G>T c.2291G>T (p.Gly764Val) c.2128+5867G>T (n.2128+5867G>T) n.2499G>T n.2707G>T c.1916G>T (p.Gly639Val) c.941G>T (p.Gly314Val) c.1655G>T (p.Gly552Val) n.2451G>T n.2659G>T | |
1 | g.197427824T>A | CA422808841 | CRB1 | c.2499T>A (p.Gly833=) c.1380T>A (p.Gly460=) c.642T>A (p.Gly214=) c.2163T>A (p.Gly721=) n.400T>A c.2292T>A (p.Gly764=) c.2128+5868T>A (n.2128+5868T>A) n.2500T>A n.2708T>A c.1917T>A (p.Gly639=) c.942T>A (p.Gly314=) c.1656T>A (p.Gly552=) n.2452T>A n.2660T>A | |
1 | g.197427824T>C | CA422808842 | CRB1 | c.2499T>C (p.Gly833=) c.1380T>C (p.Gly460=) c.642T>C (p.Gly214=) c.2163T>C (p.Gly721=) n.400T>C c.2292T>C (p.Gly764=) c.2128+5868T>C (n.2128+5868T>C) n.2500T>C n.2708T>C c.1917T>C (p.Gly639=) c.942T>C (p.Gly314=) c.1656T>C (p.Gly552=) n.2452T>C n.2660T>C | |
1 | g.197427824T>G | CA422808843 | CRB1 | c.2499T>G (p.Gly833=) c.1380T>G (p.Gly460=) c.642T>G (p.Gly214=) c.2163T>G (p.Gly721=) n.400T>G c.2292T>G (p.Gly764=) c.2128+5868T>G (n.2128+5868T>G) n.2500T>G n.2708T>G c.1917T>G (p.Gly639=) c.942T>G (p.Gly314=) c.1656T>G (p.Gly552=) n.2452T>G n.2660T>G | |
1 | g.197427825G>A | CA344037808 | CRB1 | c.2500G>A (p.Gly834Ser) c.1381G>A (p.Gly461Ser) c.643G>A (p.Gly215Ser) c.2164G>A (p.Gly722Ser) n.401G>A c.2293G>A (p.Gly765Ser) c.2128+5869G>A (n.2128+5869G>A) n.2501G>A n.2709G>A c.1918G>A (p.Gly640Ser) c.943G>A (p.Gly315Ser) c.1657G>A (p.Gly553Ser) n.2453G>A n.2661G>A | gnomAD v4 |
1 | g.197427825G>C | CA344037811 | CRB1 | c.2500G>C (p.Gly834Arg) c.1381G>C (p.Gly461Arg) c.643G>C (p.Gly215Arg) c.2164G>C (p.Gly722Arg) n.401G>C c.2293G>C (p.Gly765Arg) c.2128+5869G>C (n.2128+5869G>C) n.2501G>C n.2709G>C c.1918G>C (p.Gly640Arg) c.943G>C (p.Gly315Arg) c.1657G>C (p.Gly553Arg) n.2453G>C n.2661G>C | |
1 | g.197427825G>T | CA344037826 | CRB1 | c.2500G>T (p.Gly834Cys) c.1381G>T (p.Gly461Cys) c.643G>T (p.Gly215Cys) c.2164G>T (p.Gly722Cys) n.401G>T c.2293G>T (p.Gly765Cys) c.2128+5869G>T (n.2128+5869G>T) n.2501G>T n.2709G>T c.1918G>T (p.Gly640Cys) c.943G>T (p.Gly315Cys) c.1657G>T (p.Gly553Cys) n.2453G>T n.2661G>T | |
1 | g.197427826G>A | CA344037829 | CRB1 | c.2501G>A (p.Gly834Asp) c.1382G>A (p.Gly461Asp) c.644G>A (p.Gly215Asp) c.2165G>A (p.Gly722Asp) n.402G>A c.2294G>A (p.Gly765Asp) c.2128+5870G>A (n.2128+5870G>A) n.2502G>A n.2710G>A c.1919G>A (p.Gly640Asp) c.944G>A (p.Gly315Asp) c.1658G>A (p.Gly553Asp) n.2454G>A n.2662G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427826G>C | CA344037832 | CRB1 | c.2501G>C (p.Gly834Ala) c.1382G>C (p.Gly461Ala) c.644G>C (p.Gly215Ala) c.2165G>C (p.Gly722Ala) n.402G>C c.2294G>C (p.Gly765Ala) c.2128+5870G>C (n.2128+5870G>C) n.2502G>C n.2710G>C c.1919G>C (p.Gly640Ala) c.944G>C (p.Gly315Ala) c.1658G>C (p.Gly553Ala) n.2454G>C n.2662G>C | |
1 | g.197427826G= | CA1218066318 | CRB1 | c.2501G= (p.Gly834=) c.1382G= (p.Gly461=) c.644G= (p.Gly215=) c.2165G= (p.Gly722=) n.402G= c.2294G= (p.Gly765=) c.2128+5870G= (n.2128+5870G=) n.2502G= n.2710G= c.1919G= (p.Gly640=) c.944G= (p.Gly315=) c.1658G= (p.Gly553=) n.2454G= n.2662G= | |
1 | g.197427826G>T | CA344037834 | CRB1 | c.2501G>T (p.Gly834Val) c.1382G>T (p.Gly461Val) c.644G>T (p.Gly215Val) c.2165G>T (p.Gly722Val) n.402G>T c.2294G>T (p.Gly765Val) c.2128+5870G>T (n.2128+5870G>T) n.2502G>T n.2710G>T c.1919G>T (p.Gly640Val) c.944G>T (p.Gly315Val) c.1658G>T (p.Gly553Val) n.2454G>T n.2662G>T | |
1 | g.197427826_197427830delinsGCCTA | CA1218066319 | CRB1 | c.2501_2505delinsGCCTA (p.Gly834=) c.1382_1386delinsGCCTA (p.Gly461=) c.644_648delinsGCCTA (p.Gly215=) c.2165_2169delinsGCCTA (p.Gly722=) n.402_406delinsGCCTA c.2294_2298delinsGCCTA (p.Gly765=) c.2128+5870_2128+5874delinsGCCTA (n.2128+5870_2128+5874delinsGCCTA) n.2502_2506delinsGCCTA n.2710_2714delinsGCCTA c.1919_1923delinsGCCTA (p.Gly640=) c.944_948delinsGCCTA (p.Gly315=) c.1658_1662delinsGCCTA (p.Gly553=) n.2454_2458delinsGCCTA n.2662_2666delinsGCCTA | |
1 | g.197427827C>A | CA422808844 | CRB1 | c.2502C>A (p.Gly834=) c.1383C>A (p.Gly461=) c.645C>A (p.Gly215=) c.2166C>A (p.Gly722=) n.403C>A c.2295C>A (p.Gly765=) c.2128+5871C>A (n.2128+5871C>A) n.2503C>A n.2711C>A c.1920C>A (p.Gly640=) c.945C>A (p.Gly315=) c.1659C>A (p.Gly553=) n.2455C>A n.2663C>A | |
1 | g.197427827C>G | CA422808846 | CRB1 | c.2502C>G (p.Gly834=) c.1383C>G (p.Gly461=) c.645C>G (p.Gly215=) c.2166C>G (p.Gly722=) n.403C>G c.2295C>G (p.Gly765=) c.2128+5871C>G (n.2128+5871C>G) n.2503C>G n.2711C>G c.1920C>G (p.Gly640=) c.945C>G (p.Gly315=) c.1659C>G (p.Gly553=) n.2455C>G n.2663C>G | |
1 | g.197427827C>T | CA422808847 | CRB1 | c.2502C>T (p.Gly834=) c.1383C>T (p.Gly461=) c.645C>T (p.Gly215=) c.2166C>T (p.Gly722=) n.403C>T c.2295C>T (p.Gly765=) c.2128+5871C>T (n.2128+5871C>T) n.2503C>T n.2711C>T c.1920C>T (p.Gly640=) c.945C>T (p.Gly315=) c.1659C>T (p.Gly553=) n.2455C>T n.2663C>T | gnomAD v4 |
1 | g.197427830_197427833del | CA1312129 | CRB1 | c.2505_2508del (p.Pro836ThrfsTer19) c.1386_1389del (p.Pro463ThrfsTer19) c.648_651del (p.Pro217ThrfsTer19) c.2169_2172del (p.Pro724ThrfsTer19) n.406_409del c.2298_2301del (p.Pro767ThrfsTer19) c.2128+5874_2128+5877del (n.2128+5874_2128+5877del) n.2506_2509del n.2714_2717del c.1923_1926del (p.Pro642ThrfsTer19) c.948_951del (p.Pro317ThrfsTer19) c.1662_1665del (p.Pro555ThrfsTer19) n.2458_2461del n.2666_2669del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427828C>A | CA344037846 | CRB1 | c.2503C>A (p.Leu835Ile) c.1384C>A (p.Leu462Ile) c.646C>A (p.Leu216Ile) c.2167C>A (p.Leu723Ile) n.404C>A c.2296C>A (p.Leu766Ile) c.2128+5872C>A (n.2128+5872C>A) n.2504C>A n.2712C>A c.1921C>A (p.Leu641Ile) c.946C>A (p.Leu316Ile) c.1660C>A (p.Leu554Ile) n.2456C>A n.2664C>A | |
1 | g.197427828C>G | CA344037843 | CRB1 | c.2503C>G (p.Leu835Val) c.1384C>G (p.Leu462Val) c.646C>G (p.Leu216Val) c.2167C>G (p.Leu723Val) n.404C>G c.2296C>G (p.Leu766Val) c.2128+5872C>G (n.2128+5872C>G) n.2504C>G n.2712C>G c.1921C>G (p.Leu641Val) c.946C>G (p.Leu316Val) c.1660C>G (p.Leu554Val) n.2456C>G n.2664C>G | |
1 | g.197427828C>T | CA422808851 | CRB1 | c.2503C>T (p.Leu835=) c.1384C>T (p.Leu462=) c.646C>T (p.Leu216=) c.2167C>T (p.Leu723=) n.404C>T c.2296C>T (p.Leu766=) c.2128+5872C>T (n.2128+5872C>T) n.2504C>T n.2712C>T c.1921C>T (p.Leu641=) c.946C>T (p.Leu316=) c.1660C>T (p.Leu554=) n.2456C>T n.2664C>T | |
1 | g.197427829T>A | CA344037848 | CRB1 | c.2504T>A (p.Leu835Gln) c.1385T>A (p.Leu462Gln) c.647T>A (p.Leu216Gln) c.2168T>A (p.Leu723Gln) n.405T>A c.2297T>A (p.Leu766Gln) c.2128+5873T>A (n.2128+5873T>A) n.2505T>A n.2713T>A c.1922T>A (p.Leu641Gln) c.947T>A (p.Leu316Gln) c.1661T>A (p.Leu554Gln) n.2457T>A n.2665T>A | |
1 | g.197427829T>C | CA344037851 | CRB1 | c.2504T>C (p.Leu835Pro) c.1385T>C (p.Leu462Pro) c.647T>C (p.Leu216Pro) c.2168T>C (p.Leu723Pro) n.405T>C c.2297T>C (p.Leu766Pro) c.2128+5873T>C (n.2128+5873T>C) n.2505T>C n.2713T>C c.1922T>C (p.Leu641Pro) c.947T>C (p.Leu316Pro) c.1661T>C (p.Leu554Pro) n.2457T>C n.2665T>C | gnomAD v4 |
1 | g.197427829T>G | CA344037854 | CRB1 | c.2504T>G (p.Leu835Arg) c.1385T>G (p.Leu462Arg) c.647T>G (p.Leu216Arg) c.2168T>G (p.Leu723Arg) n.405T>G c.2297T>G (p.Leu766Arg) c.2128+5873T>G (n.2128+5873T>G) n.2505T>G n.2713T>G c.1922T>G (p.Leu641Arg) c.947T>G (p.Leu316Arg) c.1661T>G (p.Leu554Arg) n.2457T>G n.2665T>G | |
1 | g.197427830A= | CA1218066322 | CRB1 | c.2505A= (p.Leu835=) c.1386A= (p.Leu462=) c.648A= (p.Leu216=) c.2169A= (p.Leu723=) n.406A= c.2298A= (p.Leu766=) c.2128+5874A= (n.2128+5874A=) n.2506A= n.2714A= c.1923A= (p.Leu641=) c.948A= (p.Leu316=) c.1662A= (p.Leu554=) n.2458A= n.2666A= | |
1 | g.197427830A>C | CA422808854 | CRB1 | c.2505A>C (p.Leu835=) c.1386A>C (p.Leu462=) c.648A>C (p.Leu216=) c.2169A>C (p.Leu723=) n.406A>C c.2298A>C (p.Leu766=) c.2128+5874A>C (n.2128+5874A>C) n.2506A>C n.2714A>C c.1923A>C (p.Leu641=) c.948A>C (p.Leu316=) c.1662A>C (p.Leu554=) n.2458A>C n.2666A>C | |
1 | g.197427830A>G | CA422808855 | CRB1 | c.2505A>G (p.Leu835=) c.1386A>G (p.Leu462=) c.648A>G (p.Leu216=) c.2169A>G (p.Leu723=) n.406A>G c.2298A>G (p.Leu766=) c.2128+5874A>G (n.2128+5874A>G) n.2506A>G n.2714A>G c.1923A>G (p.Leu641=) c.948A>G (p.Leu316=) c.1662A>G (p.Leu554=) n.2458A>G n.2666A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197427830A>T | CA422808856 | CRB1 | c.2505A>T (p.Leu835=) c.1386A>T (p.Leu462=) c.648A>T (p.Leu216=) c.2169A>T (p.Leu723=) n.406A>T c.2298A>T (p.Leu766=) c.2128+5874A>T (n.2128+5874A>T) n.2506A>T n.2714A>T c.1923A>T (p.Leu641=) c.948A>T (p.Leu316=) c.1662A>T (p.Leu554=) n.2458A>T n.2666A>T | |
1 | g.197427831C>A | CA1312130 | CRB1 | c.2506C>A (p.Pro836Thr) c.1387C>A (p.Pro463Thr) c.649C>A (p.Pro217Thr) c.2170C>A (p.Pro724Thr) n.407C>A c.2299C>A (p.Pro767Thr) c.2128+5875C>A (n.2128+5875C>A) n.2507C>A n.2715C>A c.1924C>A (p.Pro642Thr) c.949C>A (p.Pro317Thr) c.1663C>A (p.Pro555Thr) n.2459C>A n.2667C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427831C= | CA1141533191 | CRB1 | c.2506C= (p.Pro836=) c.1387C= (p.Pro463=) c.649C= (p.Pro217=) c.2170C= (p.Pro724=) n.407C= c.2299C= (p.Pro767=) c.2128+5875C= (n.2128+5875C=) n.2507C= n.2715C= c.1924C= (p.Pro642=) c.949C= (p.Pro317=) c.1663C= (p.Pro555=) n.2459C= n.2667C= | |
1 | g.197427831C>G | CA344037858 | CRB1 | c.2506C>G (p.Pro836Ala) c.1387C>G (p.Pro463Ala) c.649C>G (p.Pro217Ala) c.2170C>G (p.Pro724Ala) n.407C>G c.2299C>G (p.Pro767Ala) c.2128+5875C>G (n.2128+5875C>G) n.2507C>G n.2715C>G c.1924C>G (p.Pro642Ala) c.949C>G (p.Pro317Ala) c.1663C>G (p.Pro555Ala) n.2459C>G n.2667C>G | |
1 | g.197427831C>T | CA344037860 | CRB1 | c.2506C>T (p.Pro836Ser) c.1387C>T (p.Pro463Ser) c.649C>T (p.Pro217Ser) c.2170C>T (p.Pro724Ser) n.407C>T c.2299C>T (p.Pro767Ser) c.2128+5875C>T (n.2128+5875C>T) n.2507C>T n.2715C>T c.1924C>T (p.Pro642Ser) c.949C>T (p.Pro317Ser) c.1663C>T (p.Pro555Ser) n.2459C>T n.2667C>T | |
1 | g.197427832C>A | CA344037864 | CRB1 | c.2507C>A (p.Pro836His) c.1388C>A (p.Pro463His) c.650C>A (p.Pro217His) c.2171C>A (p.Pro724His) n.408C>A c.2300C>A (p.Pro767His) c.2128+5876C>A (n.2128+5876C>A) n.2508C>A n.2716C>A c.1925C>A (p.Pro642His) c.950C>A (p.Pro317His) c.1664C>A (p.Pro555His) n.2460C>A n.2668C>A | |
1 | g.197427832C>G | CA344037869 | CRB1 | c.2507C>G (p.Pro836Arg) c.1388C>G (p.Pro463Arg) c.650C>G (p.Pro217Arg) c.2171C>G (p.Pro724Arg) n.408C>G c.2300C>G (p.Pro767Arg) c.2128+5876C>G (n.2128+5876C>G) n.2508C>G n.2716C>G c.1925C>G (p.Pro642Arg) c.950C>G (p.Pro317Arg) c.1664C>G (p.Pro555Arg) n.2460C>G n.2668C>G | |
1 | g.197427832C>T | CA344037867 | CRB1 | c.2507C>T (p.Pro836Leu) c.1388C>T (p.Pro463Leu) c.650C>T (p.Pro217Leu) c.2171C>T (p.Pro724Leu) n.408C>T c.2300C>T (p.Pro767Leu) c.2128+5876C>T (n.2128+5876C>T) n.2508C>T n.2716C>T c.1925C>T (p.Pro642Leu) c.950C>T (p.Pro317Leu) c.1664C>T (p.Pro555Leu) n.2460C>T n.2668C>T | |
1 | g.197427833T>A | CA422808861 | CRB1 | c.2508T>A (p.Pro836=) c.1389T>A (p.Pro463=) c.651T>A (p.Pro217=) c.2172T>A (p.Pro724=) n.409T>A c.2301T>A (p.Pro767=) c.2128+5877T>A (n.2128+5877T>A) n.2509T>A n.2717T>A c.1926T>A (p.Pro642=) c.951T>A (p.Pro317=) c.1665T>A (p.Pro555=) n.2461T>A n.2669T>A | dbSNP |
1 | g.197427833T>C | CA422808863 | CRB1 | c.2508T>C (p.Pro836=) c.1389T>C (p.Pro463=) c.651T>C (p.Pro217=) c.2172T>C (p.Pro724=) n.409T>C c.2301T>C (p.Pro767=) c.2128+5877T>C (n.2128+5877T>C) n.2509T>C n.2717T>C c.1926T>C (p.Pro642=) c.951T>C (p.Pro317=) c.1665T>C (p.Pro555=) n.2461T>C n.2669T>C | |
1 | g.197427833T>G | CA422808862 | CRB1 | c.2508T>G (p.Pro836=) c.1389T>G (p.Pro463=) c.651T>G (p.Pro217=) c.2172T>G (p.Pro724=) n.409T>G c.2301T>G (p.Pro767=) c.2128+5877T>G (n.2128+5877T>G) n.2509T>G n.2717T>G c.1926T>G (p.Pro642=) c.951T>G (p.Pro317=) c.1665T>G (p.Pro555=) n.2461T>G n.2669T>G | |
1 | g.197427834G>A | CA344037870 | CRB1 | c.2509G>A (p.Asp837Asn) c.1390G>A (p.Asp464Asn) c.652G>A (p.Asp218Asn) c.2173G>A (p.Asp725Asn) n.410G>A c.2302G>A (p.Asp768Asn) c.2128+5878G>A (n.2128+5878G>A) n.2510G>A n.2718G>A c.1927G>A (p.Asp643Asn) c.952G>A (p.Asp318Asn) c.1666G>A (p.Asp556Asn) n.2462G>A n.2670G>A | |
1 | g.197427834G>C | CA228011 | CRB1 | c.2509G>C (p.Asp837His) c.1390G>C (p.Asp464His) c.652G>C (p.Asp218His) c.2173G>C (p.Asp725His) n.410G>C c.2302G>C (p.Asp768His) c.2128+5878G>C (n.2128+5878G>C) n.2510G>C n.2718G>C c.1927G>C (p.Asp643His) c.952G>C (p.Asp318His) c.1666G>C (p.Asp556His) n.2462G>C n.2670G>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427834G= | CA1140762945 | CRB1 | c.2509G= (p.Asp837=) c.1390G= (p.Asp464=) c.652G= (p.Asp218=) c.2173G= (p.Asp725=) n.410G= c.2302G= (p.Asp768=) c.2128+5878G= (n.2128+5878G=) n.2510G= n.2718G= c.1927G= (p.Asp643=) c.952G= (p.Asp318=) c.1666G= (p.Asp556=) n.2462G= n.2670G= | |
1 | g.197427834G>T | CA344037873 | CRB1 | c.2509G>T (p.Asp837Tyr) c.1390G>T (p.Asp464Tyr) c.652G>T (p.Asp218Tyr) c.2173G>T (p.Asp725Tyr) n.410G>T c.2302G>T (p.Asp768Tyr) c.2128+5878G>T (n.2128+5878G>T) n.2510G>T n.2718G>T c.1927G>T (p.Asp643Tyr) c.952G>T (p.Asp318Tyr) c.1666G>T (p.Asp556Tyr) n.2462G>T n.2670G>T | |
1 | g.197427835A>C | CA344037874 | CRB1 | c.2510A>C (p.Asp837Ala) c.1391A>C (p.Asp464Ala) c.653A>C (p.Asp218Ala) c.2174A>C (p.Asp725Ala) n.411A>C c.2303A>C (p.Asp768Ala) c.2128+5879A>C (n.2128+5879A>C) n.2511A>C n.2719A>C c.1928A>C (p.Asp643Ala) c.953A>C (p.Asp318Ala) c.1667A>C (p.Asp556Ala) n.2463A>C n.2671A>C | |
1 | g.197427835A>G | CA344037876 | CRB1 | c.2510A>G (p.Asp837Gly) c.1391A>G (p.Asp464Gly) c.653A>G (p.Asp218Gly) c.2174A>G (p.Asp725Gly) n.411A>G c.2303A>G (p.Asp768Gly) c.2128+5879A>G (n.2128+5879A>G) n.2511A>G n.2719A>G c.1928A>G (p.Asp643Gly) c.953A>G (p.Asp318Gly) c.1667A>G (p.Asp556Gly) n.2463A>G n.2671A>G | |
1 | g.197427835A>T | CA344037879 | CRB1 | c.2510A>T (p.Asp837Val) c.1391A>T (p.Asp464Val) c.653A>T (p.Asp218Val) c.2174A>T (p.Asp725Val) n.411A>T c.2303A>T (p.Asp768Val) c.2128+5879A>T (n.2128+5879A>T) n.2511A>T n.2719A>T c.1928A>T (p.Asp643Val) c.953A>T (p.Asp318Val) c.1667A>T (p.Asp556Val) n.2463A>T n.2671A>T | |
1 | g.197427836C>A | CA344037895 | CRB1 | c.2511C>A (p.Asp837Glu) c.1392C>A (p.Asp464Glu) c.654C>A (p.Asp218Glu) c.2175C>A (p.Asp725Glu) n.412C>A c.2304C>A (p.Asp768Glu) c.2128+5880C>A (n.2128+5880C>A) n.2512C>A n.2720C>A c.1929C>A (p.Asp643Glu) c.954C>A (p.Asp318Glu) c.1668C>A (p.Asp556Glu) n.2464C>A n.2672C>A | gnomAD v4 |
1 | g.197427836C= | CA1218066329 | CRB1 | c.2511C= (p.Asp837=) c.1392C= (p.Asp464=) c.654C= (p.Asp218=) c.2175C= (p.Asp725=) n.412C= c.2304C= (p.Asp768=) c.2128+5880C= (n.2128+5880C=) n.2512C= n.2720C= c.1929C= (p.Asp643=) c.954C= (p.Asp318=) c.1668C= (p.Asp556=) n.2464C= n.2672C= | |
1 | g.197427836C>G | CA344037897 | CRB1 | c.2511C>G (p.Asp837Glu) c.1392C>G (p.Asp464Glu) c.654C>G (p.Asp218Glu) c.2175C>G (p.Asp725Glu) n.412C>G c.2304C>G (p.Asp768Glu) c.2128+5880C>G (n.2128+5880C>G) n.2512C>G n.2720C>G c.1929C>G (p.Asp643Glu) c.954C>G (p.Asp318Glu) c.1668C>G (p.Asp556Glu) n.2464C>G n.2672C>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427836C>T | CA422808864 | CRB1 | c.2511C>T (p.Asp837=) c.1392C>T (p.Asp464=) c.654C>T (p.Asp218=) c.2175C>T (p.Asp725=) n.412C>T c.2304C>T (p.Asp768=) c.2128+5880C>T (n.2128+5880C>T) n.2512C>T n.2720C>T c.1929C>T (p.Asp643=) c.954C>T (p.Asp318=) c.1668C>T (p.Asp556=) n.2464C>T n.2672C>T | |
1 | g.197427837A>C | CA344037901 | CRB1 | c.2512A>C (p.Lys838Gln) c.1393A>C (p.Lys465Gln) c.655A>C (p.Lys219Gln) c.2176A>C (p.Lys726Gln) n.413A>C c.2305A>C (p.Lys769Gln) c.2128+5881A>C (n.2128+5881A>C) n.2513A>C n.2721A>C c.1930A>C (p.Lys644Gln) c.955A>C (p.Lys319Gln) c.1669A>C (p.Lys557Gln) n.2465A>C n.2673A>C | gnomAD v4 |
1 | g.197427837A>G | CA344037904 | CRB1 | c.2512A>G (p.Lys838Glu) c.1393A>G (p.Lys465Glu) c.655A>G (p.Lys219Glu) c.2176A>G (p.Lys726Glu) n.413A>G c.2305A>G (p.Lys769Glu) c.2128+5881A>G (n.2128+5881A>G) n.2513A>G n.2721A>G c.1930A>G (p.Lys644Glu) c.955A>G (p.Lys319Glu) c.1669A>G (p.Lys557Glu) n.2465A>G n.2673A>G | |
1 | g.197427837A>T | CA344037906 | CRB1 | c.2512A>T (p.Lys838Ter) c.1393A>T (p.Lys465Ter) c.655A>T (p.Lys219Ter) c.2176A>T (p.Lys726Ter) n.413A>T c.2305A>T (p.Lys769Ter) c.2128+5881A>T (n.2128+5881A>T) n.2513A>T n.2721A>T c.1930A>T (p.Lys644Ter) c.955A>T (p.Lys319Ter) c.1669A>T (p.Lys557Ter) n.2465A>T n.2673A>T | gnomAD v4 |
1 | g.197427838A>C | CA344037907 | CRB1 | c.2513A>C (p.Lys838Thr) c.1394A>C (p.Lys465Thr) c.656A>C (p.Lys219Thr) c.2177A>C (p.Lys726Thr) c.2306A>C (p.Lys769Thr) c.2128+5882A>C (n.2128+5882A>C) n.2514A>C n.2722A>C c.1931A>C (p.Lys644Thr) c.956A>C (p.Lys319Thr) c.1670A>C (p.Lys557Thr) n.2466A>C n.2674A>C | |
1 | g.197427838A>G | CA344037909 | CRB1 | c.2513A>G (p.Lys838Arg) c.1394A>G (p.Lys465Arg) c.656A>G (p.Lys219Arg) c.2177A>G (p.Lys726Arg) c.2306A>G (p.Lys769Arg) c.2128+5882A>G (n.2128+5882A>G) n.2514A>G n.2722A>G c.1931A>G (p.Lys644Arg) c.956A>G (p.Lys319Arg) c.1670A>G (p.Lys557Arg) n.2466A>G n.2674A>G | |
1 | g.197427838A>T | CA344037908 | CRB1 | c.2513A>T (p.Lys838Met) c.1394A>T (p.Lys465Met) c.656A>T (p.Lys219Met) c.2177A>T (p.Lys726Met) c.2306A>T (p.Lys769Met) c.2128+5882A>T (n.2128+5882A>T) n.2514A>T n.2722A>T c.1931A>T (p.Lys644Met) c.956A>T (p.Lys319Met) c.1670A>T (p.Lys557Met) n.2466A>T n.2674A>T | |
1 | g.197427839G>A | CA422808870 | CRB1 | c.2514G>A (p.Lys838=) c.1395G>A (p.Lys465=) c.657G>A (p.Lys219=) c.2178G>A (p.Lys726=) c.2307G>A (p.Lys769=) c.2128+5883G>A (n.2128+5883G>A) n.2515G>A n.2723G>A c.1932G>A (p.Lys644=) c.957G>A (p.Lys319=) c.1671G>A (p.Lys557=) n.2467G>A n.2675G>A | |
1 | g.197427839G>C | CA344037911 | CRB1 | c.2514G>C (p.Lys838Asn) c.1395G>C (p.Lys465Asn) c.657G>C (p.Lys219Asn) c.2178G>C (p.Lys726Asn) c.2307G>C (p.Lys769Asn) c.2128+5883G>C (n.2128+5883G>C) n.2515G>C n.2723G>C c.1932G>C (p.Lys644Asn) c.957G>C (p.Lys319Asn) c.1671G>C (p.Lys557Asn) n.2467G>C n.2675G>C | gnomAD v4 |
1 | g.197427839G>T | CA344037913 | CRB1 | c.2514G>T (p.Lys838Asn) c.1395G>T (p.Lys465Asn) c.657G>T (p.Lys219Asn) c.2178G>T (p.Lys726Asn) c.2307G>T (p.Lys769Asn) c.2128+5883G>T (n.2128+5883G>T) n.2515G>T n.2723G>T c.1932G>T (p.Lys644Asn) c.957G>T (p.Lys319Asn) c.1671G>T (p.Lys557Asn) n.2467G>T n.2675G>T | |
1 | g.197427840C>A | CA344037915 | CRB1 | c.2515C>A (p.Gln839Lys) c.1396C>A (p.Gln466Lys) c.658C>A (p.Gln220Lys) c.2179C>A (p.Gln727Lys) c.2308C>A (p.Gln770Lys) c.2128+5884C>A (n.2128+5884C>A) n.2516C>A n.2724C>A c.1933C>A (p.Gln645Lys) c.958C>A (p.Gln320Lys) c.1672C>A (p.Gln558Lys) n.2468C>A n.2676C>A | gnomAD v4 COSMIC COSMIC |
1 | g.197427840C= | CA1218066331 | CRB1 | c.2515C= (p.Gln839=) c.1396C= (p.Gln466=) c.658C= (p.Gln220=) c.2179C= (p.Gln727=) c.2308C= (p.Gln770=) c.2128+5884C= (n.2128+5884C=) n.2516C= n.2724C= c.1933C= (p.Gln645=) c.958C= (p.Gln320=) c.1672C= (p.Gln558=) n.2468C= n.2676C= | |
1 | g.197427840C>G | CA344037924 | CRB1 | c.2515C>G (p.Gln839Glu) c.1396C>G (p.Gln466Glu) c.658C>G (p.Gln220Glu) c.2179C>G (p.Gln727Glu) c.2308C>G (p.Gln770Glu) c.2128+5884C>G (n.2128+5884C>G) n.2516C>G n.2724C>G c.1933C>G (p.Gln645Glu) c.958C>G (p.Gln320Glu) c.1672C>G (p.Gln558Glu) n.2468C>G n.2676C>G | dbSNP gnomAD v2 |
1 | g.197427840C>T | CA344037928 | CRB1 | c.2515C>T (p.Gln839Ter) c.1396C>T (p.Gln466Ter) c.658C>T (p.Gln220Ter) c.2179C>T (p.Gln727Ter) c.2308C>T (p.Gln770Ter) c.2128+5884C>T (n.2128+5884C>T) n.2516C>T n.2724C>T c.1933C>T (p.Gln645Ter) c.958C>T (p.Gln320Ter) c.1672C>T (p.Gln558Ter) n.2468C>T n.2676C>T | |
1 | g.197427841A>C | CA344037930 | CRB1 | c.2516A>C (p.Gln839Pro) c.1397A>C (p.Gln466Pro) c.659A>C (p.Gln220Pro) c.2180A>C (p.Gln727Pro) c.2309A>C (p.Gln770Pro) c.2128+5885A>C (n.2128+5885A>C) n.2517A>C n.2725A>C c.1934A>C (p.Gln645Pro) c.959A>C (p.Gln320Pro) c.1673A>C (p.Gln558Pro) n.2469A>C n.2677A>C | |
1 | g.197427841A>G | CA344037933 | CRB1 | c.2516A>G (p.Gln839Arg) c.1397A>G (p.Gln466Arg) c.659A>G (p.Gln220Arg) c.2180A>G (p.Gln727Arg) c.2309A>G (p.Gln770Arg) c.2128+5885A>G (n.2128+5885A>G) n.2517A>G n.2725A>G c.1934A>G (p.Gln645Arg) c.959A>G (p.Gln320Arg) c.1673A>G (p.Gln558Arg) n.2469A>G n.2677A>G | |
1 | g.197427841A>T | CA344037936 | CRB1 | c.2516A>T (p.Gln839Leu) c.1397A>T (p.Gln466Leu) c.659A>T (p.Gln220Leu) c.2180A>T (p.Gln727Leu) c.2309A>T (p.Gln770Leu) c.2128+5885A>T (n.2128+5885A>T) n.2517A>T n.2725A>T c.1934A>T (p.Gln645Leu) c.959A>T (p.Gln320Leu) c.1673A>T (p.Gln558Leu) n.2469A>T n.2677A>T | |
1 | g.197427842A>C | CA344037937 | CRB1 | c.2517A>C (p.Gln839His) c.1398A>C (p.Gln466His) c.660A>C (p.Gln220His) c.2181A>C (p.Gln727His) c.2310A>C (p.Gln770His) c.2128+5886A>C (n.2128+5886A>C) n.2518A>C n.2726A>C c.1935A>C (p.Gln645His) c.960A>C (p.Gln320His) c.1674A>C (p.Gln558His) n.2470A>C n.2678A>C | |
1 | g.197427842A>G | CA422808872 | CRB1 | c.2517A>G (p.Gln839=) c.1398A>G (p.Gln466=) c.660A>G (p.Gln220=) c.2181A>G (p.Gln727=) c.2310A>G (p.Gln770=) c.2128+5886A>G (n.2128+5886A>G) n.2518A>G n.2726A>G c.1935A>G (p.Gln645=) c.960A>G (p.Gln320=) c.1674A>G (p.Gln558=) n.2470A>G n.2678A>G | ClinVar gnomAD v4 |
1 | g.197427842A>T | CA344037939 | CRB1 | c.2517A>T (p.Gln839His) c.1398A>T (p.Gln466His) c.660A>T (p.Gln220His) c.2181A>T (p.Gln727His) c.2310A>T (p.Gln770His) c.2128+5886A>T (n.2128+5886A>T) n.2518A>T n.2726A>T c.1935A>T (p.Gln645His) c.960A>T (p.Gln320His) c.1674A>T (p.Gln558His) n.2470A>T n.2678A>T | |
1 | g.197427843G>A | CA344037948 | CRB1 | c.2518G>A (p.Glu840Lys) c.1399G>A (p.Glu467Lys) c.661G>A (p.Glu221Lys) c.2182G>A (p.Glu728Lys) c.2311G>A (p.Glu771Lys) c.2128+5887G>A (n.2128+5887G>A) n.2519G>A n.2727G>A c.1936G>A (p.Glu646Lys) c.961G>A (p.Glu321Lys) c.1675G>A (p.Glu559Lys) n.2471G>A n.2679G>A | |
1 | g.197427843G>C | CA344037950 | CRB1 | c.2518G>C (p.Glu840Gln) c.1399G>C (p.Glu467Gln) c.661G>C (p.Glu221Gln) c.2182G>C (p.Glu728Gln) c.2311G>C (p.Glu771Gln) c.2128+5887G>C (n.2128+5887G>C) n.2519G>C n.2727G>C c.1936G>C (p.Glu646Gln) c.961G>C (p.Glu321Gln) c.1675G>C (p.Glu559Gln) n.2471G>C n.2679G>C | |
1 | g.197427843G>T | CA344037957 | CRB1 | c.2518G>T (p.Glu840Ter) c.1399G>T (p.Glu467Ter) c.661G>T (p.Glu221Ter) c.2182G>T (p.Glu728Ter) c.2311G>T (p.Glu771Ter) c.2128+5887G>T (n.2128+5887G>T) n.2519G>T n.2727G>T c.1936G>T (p.Glu646Ter) c.961G>T (p.Glu321Ter) c.1675G>T (p.Glu559Ter) n.2471G>T n.2679G>T | |
1 | g.197427844A>C | CA344037963 | CRB1 | c.2519A>C (p.Glu840Ala) c.1400A>C (p.Glu467Ala) c.662A>C (p.Glu221Ala) c.2183A>C (p.Glu728Ala) c.2312A>C (p.Glu771Ala) c.2128+5888A>C (n.2128+5888A>C) n.2520A>C n.2728A>C c.1937A>C (p.Glu646Ala) c.962A>C (p.Glu321Ala) c.1676A>C (p.Glu559Ala) n.2472A>C n.2680A>C | |
1 | g.197427844A>G | CA344037970 | CRB1 | c.2519A>G (p.Glu840Gly) c.1400A>G (p.Glu467Gly) c.662A>G (p.Glu221Gly) c.2183A>G (p.Glu728Gly) c.2312A>G (p.Glu771Gly) c.2128+5888A>G (n.2128+5888A>G) n.2520A>G n.2728A>G c.1937A>G (p.Glu646Gly) c.962A>G (p.Glu321Gly) c.1676A>G (p.Glu559Gly) n.2472A>G n.2680A>G | dbSNP |
1 | g.197427844A>T | CA344037973 | CRB1 | c.2519A>T (p.Glu840Val) c.1400A>T (p.Glu467Val) c.662A>T (p.Glu221Val) c.2183A>T (p.Glu728Val) c.2312A>T (p.Glu771Val) c.2128+5888A>T (n.2128+5888A>T) n.2520A>T n.2728A>T c.1937A>T (p.Glu646Val) c.962A>T (p.Glu321Val) c.1676A>T (p.Glu559Val) n.2472A>T n.2680A>T | |
1 | g.197427845G>A | CA422808876 | CRB1 | c.2520G>A (p.Glu840=) c.1401G>A (p.Glu467=) c.663G>A (p.Glu221=) c.2184G>A (p.Glu728=) c.2313G>A (p.Glu771=) c.2128+5889G>A (n.2128+5889G>A) n.2521G>A n.2729G>A c.1938G>A (p.Glu646=) c.963G>A (p.Glu321=) c.1677G>A (p.Glu559=) n.2473G>A n.2681G>A | COSMIC COSMIC |
1 | g.197427845G>C | CA344037976 | CRB1 | c.2520G>C (p.Glu840Asp) c.1401G>C (p.Glu467Asp) c.663G>C (p.Glu221Asp) c.2184G>C (p.Glu728Asp) c.2313G>C (p.Glu771Asp) c.2128+5889G>C (n.2128+5889G>C) n.2521G>C n.2729G>C c.1938G>C (p.Glu646Asp) c.963G>C (p.Glu321Asp) c.1677G>C (p.Glu559Asp) n.2473G>C n.2681G>C | |
1 | g.197427845G>T | CA344037978 | CRB1 | c.2520G>T (p.Glu840Asp) c.1401G>T (p.Glu467Asp) c.663G>T (p.Glu221Asp) c.2184G>T (p.Glu728Asp) c.2313G>T (p.Glu771Asp) c.2128+5889G>T (n.2128+5889G>T) n.2521G>T n.2729G>T c.1938G>T (p.Glu646Asp) c.963G>T (p.Glu321Asp) c.1677G>T (p.Glu559Asp) n.2473G>T n.2681G>T | |
1 | g.197427846A= | CA1218066347 | CRB1 | c.2521A= (p.Thr841=) c.1402A= (p.Thr468=) c.664A= (p.Thr222=) c.2185A= (p.Thr729=) c.2314A= (p.Thr772=) c.2128+5890A= (n.2128+5890A=) n.2522A= n.2730A= c.1939A= (p.Thr647=) c.964A= (p.Thr322=) c.1678A= (p.Thr560=) n.2474A= n.2682A= | |
1 | g.197427846A>C | CA344037981 | CRB1 | c.2521A>C (p.Thr841Pro) c.1402A>C (p.Thr468Pro) c.664A>C (p.Thr222Pro) c.2185A>C (p.Thr729Pro) c.2314A>C (p.Thr772Pro) c.2128+5890A>C (n.2128+5890A>C) n.2522A>C n.2730A>C c.1939A>C (p.Thr647Pro) c.964A>C (p.Thr322Pro) c.1678A>C (p.Thr560Pro) n.2474A>C n.2682A>C | ClinVar dbSNP |
1 | g.197427846A>G | CA344037990 | CRB1 | c.2521A>G (p.Thr841Ala) c.1402A>G (p.Thr468Ala) c.664A>G (p.Thr222Ala) c.2185A>G (p.Thr729Ala) c.2314A>G (p.Thr772Ala) c.2128+5890A>G (n.2128+5890A>G) n.2522A>G n.2730A>G c.1939A>G (p.Thr647Ala) c.964A>G (p.Thr322Ala) c.1678A>G (p.Thr560Ala) n.2474A>G n.2682A>G | dbSNP gnomAD v4 |
1 | g.197427846A>T | CA35901004 | CRB1 | c.2521A>T (p.Thr841Ser) c.1402A>T (p.Thr468Ser) c.664A>T (p.Thr222Ser) c.2185A>T (p.Thr729Ser) c.2314A>T (p.Thr772Ser) c.2128+5890A>T (n.2128+5890A>T) n.2522A>T n.2730A>T c.1939A>T (p.Thr647Ser) c.964A>T (p.Thr322Ser) c.1678A>T (p.Thr560Ser) n.2474A>T n.2682A>T | dbSNP |
1 | g.197427847C>A | CA344038001 | CRB1 | c.2522C>A (p.Thr841Asn) c.1403C>A (p.Thr468Asn) c.665C>A (p.Thr222Asn) c.2186C>A (p.Thr729Asn) c.2315C>A (p.Thr772Asn) c.2128+5891C>A (n.2128+5891C>A) n.2523C>A n.2731C>A c.1940C>A (p.Thr647Asn) c.965C>A (p.Thr322Asn) c.1679C>A (p.Thr560Asn) n.2475C>A n.2683C>A | |
1 | g.197427847C>G | CA344038006 | CRB1 | c.2522C>G (p.Thr841Ser) c.1403C>G (p.Thr468Ser) c.665C>G (p.Thr222Ser) c.2186C>G (p.Thr729Ser) c.2315C>G (p.Thr772Ser) c.2128+5891C>G (n.2128+5891C>G) n.2523C>G n.2731C>G c.1940C>G (p.Thr647Ser) c.965C>G (p.Thr322Ser) c.1679C>G (p.Thr560Ser) n.2475C>G n.2683C>G | |
1 | g.197427847C>T | CA344038011 | CRB1 | c.2522C>T (p.Thr841Ile) c.1403C>T (p.Thr468Ile) c.665C>T (p.Thr222Ile) c.2186C>T (p.Thr729Ile) c.2315C>T (p.Thr772Ile) c.2128+5891C>T (n.2128+5891C>T) n.2523C>T n.2731C>T c.1940C>T (p.Thr647Ile) c.965C>T (p.Thr322Ile) c.1679C>T (p.Thr560Ile) n.2475C>T n.2683C>T | ClinVar dbSNP |
1 | g.197427848T>A | CA422808881 | CRB1 | c.2523T>A (p.Thr841=) c.1404T>A (p.Thr468=) c.666T>A (p.Thr222=) c.2187T>A (p.Thr729=) c.2316T>A (p.Thr772=) c.2128+5892T>A (n.2128+5892T>A) n.2524T>A n.2732T>A c.1941T>A (p.Thr647=) c.966T>A (p.Thr322=) c.1680T>A (p.Thr560=) n.2476T>A n.2684T>A | |
1 | g.197427848T>C | CA422808882 | CRB1 | c.2523T>C (p.Thr841=) c.1404T>C (p.Thr468=) c.666T>C (p.Thr222=) c.2187T>C (p.Thr729=) c.2316T>C (p.Thr772=) c.2128+5892T>C (n.2128+5892T>C) n.2524T>C n.2732T>C c.1941T>C (p.Thr647=) c.966T>C (p.Thr322=) c.1680T>C (p.Thr560=) n.2476T>C n.2684T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427848T>G | CA422808883 | CRB1 | c.2523T>G (p.Thr841=) c.1404T>G (p.Thr468=) c.666T>G (p.Thr222=) c.2187T>G (p.Thr729=) c.2316T>G (p.Thr772=) c.2128+5892T>G (n.2128+5892T>G) n.2524T>G n.2732T>G c.1941T>G (p.Thr647=) c.966T>G (p.Thr322=) c.1680T>G (p.Thr560=) n.2476T>G n.2684T>G | |
1 | g.197427848T= | CA1218066350 | CRB1 | c.2523T= (p.Thr841=) c.1404T= (p.Thr468=) c.666T= (p.Thr222=) c.2187T= (p.Thr729=) c.2316T= (p.Thr772=) c.2128+5892T= (n.2128+5892T=) n.2524T= n.2732T= c.1941T= (p.Thr647=) c.966T= (p.Thr322=) c.1680T= (p.Thr560=) n.2476T= n.2684T= | |
1 | g.197427849G>A | CA344038014 | CRB1 | c.2524G>A (p.Glu842Lys) c.1405G>A (p.Glu469Lys) c.667G>A (p.Glu223Lys) c.2188G>A (p.Glu730Lys) c.2317G>A (p.Glu773Lys) c.2128+5893G>A (n.2128+5893G>A) n.2525G>A n.2733G>A c.1942G>A (p.Glu648Lys) c.967G>A (p.Glu323Lys) c.1681G>A (p.Glu561Lys) n.2477G>A n.2685G>A | COSMIC COSMIC |
1 | g.197427849G>C | CA344038016 | CRB1 | c.2524G>C (p.Glu842Gln) c.1405G>C (p.Glu469Gln) c.667G>C (p.Glu223Gln) c.2188G>C (p.Glu730Gln) c.2317G>C (p.Glu773Gln) c.2128+5893G>C (n.2128+5893G>C) n.2525G>C n.2733G>C c.1942G>C (p.Glu648Gln) c.967G>C (p.Glu323Gln) c.1681G>C (p.Glu561Gln) n.2477G>C n.2685G>C | |
1 | g.197427849G>T | CA344038019 | CRB1 | c.2524G>T (p.Glu842Ter) c.1405G>T (p.Glu469Ter) c.667G>T (p.Glu223Ter) c.2188G>T (p.Glu730Ter) c.2317G>T (p.Glu773Ter) c.2128+5893G>T (n.2128+5893G>T) n.2525G>T n.2733G>T c.1942G>T (p.Glu648Ter) c.967G>T (p.Glu323Ter) c.1681G>T (p.Glu561Ter) n.2477G>T n.2685G>T | |
1 | g.197427850A>C | CA344038022 | CRB1 | c.2525A>C (p.Glu842Ala) c.1406A>C (p.Glu469Ala) c.668A>C (p.Glu223Ala) c.2189A>C (p.Glu730Ala) c.2318A>C (p.Glu773Ala) c.2128+5894A>C (n.2128+5894A>C) n.2526A>C n.2734A>C c.1943A>C (p.Glu648Ala) c.968A>C (p.Glu323Ala) c.1682A>C (p.Glu561Ala) n.2478A>C n.2686A>C | |
1 | g.197427850A>G | CA344038024 | CRB1 | c.2525A>G (p.Glu842Gly) c.1406A>G (p.Glu469Gly) c.668A>G (p.Glu223Gly) c.2189A>G (p.Glu730Gly) c.2318A>G (p.Glu773Gly) c.2128+5894A>G (n.2128+5894A>G) n.2526A>G n.2734A>G c.1943A>G (p.Glu648Gly) c.968A>G (p.Glu323Gly) c.1682A>G (p.Glu561Gly) n.2478A>G n.2686A>G | |
1 | g.197427850A>T | CA344038027 | CRB1 | c.2525A>T (p.Glu842Val) c.1406A>T (p.Glu469Val) c.668A>T (p.Glu223Val) c.2189A>T (p.Glu730Val) c.2318A>T (p.Glu773Val) c.2128+5894A>T (n.2128+5894A>T) n.2526A>T n.2734A>T c.1943A>T (p.Glu648Val) c.968A>T (p.Glu323Val) c.1682A>T (p.Glu561Val) n.2478A>T n.2686A>T | |
1 | g.197427851A>C | CA344038030 | CRB1 | c.2526A>C (p.Glu842Asp) c.1407A>C (p.Glu469Asp) c.669A>C (p.Glu223Asp) c.2190A>C (p.Glu730Asp) c.2319A>C (p.Glu773Asp) c.2128+5895A>C (n.2128+5895A>C) n.2527A>C n.2735A>C c.1944A>C (p.Glu648Asp) c.969A>C (p.Glu323Asp) c.1683A>C (p.Glu561Asp) n.2479A>C n.2687A>C | |
1 | g.197427851A>G | CA422808887 | CRB1 | c.2526A>G (p.Glu842=) c.1407A>G (p.Glu469=) c.669A>G (p.Glu223=) c.2190A>G (p.Glu730=) c.2319A>G (p.Glu773=) c.2128+5895A>G (n.2128+5895A>G) n.2527A>G n.2735A>G c.1944A>G (p.Glu648=) c.969A>G (p.Glu323=) c.1683A>G (p.Glu561=) n.2479A>G n.2687A>G | |
1 | g.197427851A>T | CA344038034 | CRB1 | c.2526A>T (p.Glu842Asp) c.1407A>T (p.Glu469Asp) c.669A>T (p.Glu223Asp) c.2190A>T (p.Glu730Asp) c.2319A>T (p.Glu773Asp) c.2128+5895A>T (n.2128+5895A>T) n.2527A>T n.2735A>T c.1944A>T (p.Glu648Asp) c.969A>T (p.Glu323Asp) c.1683A>T (p.Glu561Asp) n.2479A>T n.2687A>T | |
1 | g.197427852_197427923del | CA2580061831 | CRB1 | c.2527_2598del (p.Leu843_Pro866del) c.1408_1479del (p.Leu470_Pro493del) c.670_741del (p.Leu224_Pro247del) c.2191_2262del (p.Leu731_Pro754del) c.2320_2391del (p.Leu774_Pro797del) c.2128+5896_2128+5967del (n.2128+5896_2128+5967del) n.2528_2599del n.2736_2807del c.1945_2016del (p.Leu649_Pro672del) c.970_1041del (p.Leu324_Pro347del) c.1684_1755del (p.Leu562_Pro585del) n.2480_2551del n.2688_2759del | ClinVar |
1 | g.197427852C>A | CA344038035 | CRB1 | c.2527C>A (p.Leu843Ile) c.1408C>A (p.Leu470Ile) c.670C>A (p.Leu224Ile) c.2191C>A (p.Leu731Ile) c.2320C>A (p.Leu774Ile) c.2128+5896C>A (n.2128+5896C>A) n.2528C>A n.2736C>A c.1945C>A (p.Leu649Ile) c.970C>A (p.Leu324Ile) c.1684C>A (p.Leu562Ile) n.2480C>A n.2688C>A | |
1 | g.197427852C= | CA1218066351 | CRB1 | c.2527C= (p.Leu843=) c.1408C= (p.Leu470=) c.670C= (p.Leu224=) c.2191C= (p.Leu731=) c.2320C= (p.Leu774=) c.2128+5896C= (n.2128+5896C=) n.2528C= n.2736C= c.1945C= (p.Leu649=) c.970C= (p.Leu324=) c.1684C= (p.Leu562=) n.2480C= n.2688C= | |
1 | g.197427852C>G | CA344038036 | CRB1 | c.2527C>G (p.Leu843Val) c.1408C>G (p.Leu470Val) c.670C>G (p.Leu224Val) c.2191C>G (p.Leu731Val) c.2320C>G (p.Leu774Val) c.2128+5896C>G (n.2128+5896C>G) n.2528C>G n.2736C>G c.1945C>G (p.Leu649Val) c.970C>G (p.Leu324Val) c.1684C>G (p.Leu562Val) n.2480C>G n.2688C>G | |
1 | g.197427852C>T | CA1312131 | CRB1 | c.2527C>T (p.Leu843Phe) c.1408C>T (p.Leu470Phe) c.670C>T (p.Leu224Phe) c.2191C>T (p.Leu731Phe) c.2320C>T (p.Leu774Phe) c.2128+5896C>T (n.2128+5896C>T) n.2528C>T n.2736C>T c.1945C>T (p.Leu649Phe) c.970C>T (p.Leu324Phe) c.1684C>T (p.Leu562Phe) n.2480C>T n.2688C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427853T>A | CA344038038 | CRB1 | c.2528T>A (p.Leu843His) c.1409T>A (p.Leu470His) c.671T>A (p.Leu224His) c.2192T>A (p.Leu731His) c.2321T>A (p.Leu774His) c.2128+5897T>A (n.2128+5897T>A) n.2529T>A n.2737T>A c.1946T>A (p.Leu649His) c.971T>A (p.Leu324His) c.1685T>A (p.Leu562His) n.2481T>A n.2689T>A | |
1 | g.197427853T>C | CA344038040 | CRB1 | c.2528T>C (p.Leu843Pro) c.1409T>C (p.Leu470Pro) c.671T>C (p.Leu224Pro) c.2192T>C (p.Leu731Pro) c.2321T>C (p.Leu774Pro) c.2128+5897T>C (n.2128+5897T>C) n.2529T>C n.2737T>C c.1946T>C (p.Leu649Pro) c.971T>C (p.Leu324Pro) c.1685T>C (p.Leu562Pro) n.2481T>C n.2689T>C | |
1 | g.197427853T>G | CA344038047 | CRB1 | c.2528T>G (p.Leu843Arg) c.1409T>G (p.Leu470Arg) c.671T>G (p.Leu224Arg) c.2192T>G (p.Leu731Arg) c.2321T>G (p.Leu774Arg) c.2128+5897T>G (n.2128+5897T>G) n.2529T>G n.2737T>G c.1946T>G (p.Leu649Arg) c.971T>G (p.Leu324Arg) c.1685T>G (p.Leu562Arg) n.2481T>G n.2689T>G | COSMIC COSMIC |
1 | g.197427854T>A | CA422808890 | CRB1 | c.2529T>A (p.Leu843=) c.1410T>A (p.Leu470=) c.672T>A (p.Leu224=) c.2193T>A (p.Leu731=) c.2322T>A (p.Leu774=) c.2128+5898T>A (n.2128+5898T>A) n.2530T>A n.2738T>A c.1947T>A (p.Leu649=) c.972T>A (p.Leu324=) c.1686T>A (p.Leu562=) n.2482T>A n.2690T>A | |
1 | g.197427854T>C | CA422808888 | CRB1 | c.2529T>C (p.Leu843=) c.1410T>C (p.Leu470=) c.672T>C (p.Leu224=) c.2193T>C (p.Leu731=) c.2322T>C (p.Leu774=) c.2128+5898T>C (n.2128+5898T>C) n.2530T>C n.2738T>C c.1947T>C (p.Leu649=) c.972T>C (p.Leu324=) c.1686T>C (p.Leu562=) n.2482T>C n.2690T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427854T>G | CA422808889 | CRB1 | c.2529T>G (p.Leu843=) c.1410T>G (p.Leu470=) c.672T>G (p.Leu224=) c.2193T>G (p.Leu731=) c.2322T>G (p.Leu774=) c.2128+5898T>G (n.2128+5898T>G) n.2530T>G n.2738T>G c.1947T>G (p.Leu649=) c.972T>G (p.Leu324=) c.1686T>G (p.Leu562=) n.2482T>G n.2690T>G | |
1 | g.197427854T= | CA1218066354 | CRB1 | c.2529T= (p.Leu843=) c.1410T= (p.Leu470=) c.672T= (p.Leu224=) c.2193T= (p.Leu731=) c.2322T= (p.Leu774=) c.2128+5898T= (n.2128+5898T=) n.2530T= n.2738T= c.1947T= (p.Leu649=) c.972T= (p.Leu324=) c.1686T= (p.Leu562=) n.2482T= n.2690T= | |
1 | g.197427855A>C | CA344038051 | CRB1 | c.2530A>C (p.Asn844His) c.1411A>C (p.Asn471His) c.673A>C (p.Asn225His) c.2194A>C (p.Asn732His) c.2323A>C (p.Asn775His) c.2128+5899A>C (n.2128+5899A>C) n.2531A>C n.2739A>C c.1948A>C (p.Asn650His) c.973A>C (p.Asn325His) c.1687A>C (p.Asn563His) n.2483A>C n.2691A>C | |
1 | g.197427855A>G | CA344038054 | CRB1 | c.2530A>G (p.Asn844Asp) c.1411A>G (p.Asn471Asp) c.673A>G (p.Asn225Asp) c.2194A>G (p.Asn732Asp) c.2323A>G (p.Asn775Asp) c.2128+5899A>G (n.2128+5899A>G) n.2531A>G n.2739A>G c.1948A>G (p.Asn650Asp) c.973A>G (p.Asn325Asp) c.1687A>G (p.Asn563Asp) n.2483A>G n.2691A>G | |
1 | g.197427855A>T | CA344038055 | CRB1 | c.2530A>T (p.Asn844Tyr) c.1411A>T (p.Asn471Tyr) c.673A>T (p.Asn225Tyr) c.2194A>T (p.Asn732Tyr) c.2323A>T (p.Asn775Tyr) c.2128+5899A>T (n.2128+5899A>T) n.2531A>T n.2739A>T c.1948A>T (p.Asn650Tyr) c.973A>T (p.Asn325Tyr) c.1687A>T (p.Asn563Tyr) n.2483A>T n.2691A>T | |
1 | g.197427855_197427862delinsAATGGTGG | CA1218066359 | CRB1 | c.2530_2537delinsAATGGTGG (p.Asn844=) c.1411_1418delinsAATGGTGG (p.Asn471=) c.673_680delinsAATGGTGG (p.Asn225=) c.2194_2201delinsAATGGTGG (p.Asn732=) c.2323_2330delinsAATGGTGG (p.Asn775=) c.2128+5899_2128+5906delinsAATGGTGG (n.2128+5899_2128+5906delinsAATGGTGG) n.2531_2538delinsAATGGTGG n.2739_2746delinsAATGGTGG c.1948_1955delinsAATGGTGG (p.Asn650=) c.973_980delinsAATGGTGG (p.Asn325=) c.1687_1694delinsAATGGTGG (p.Asn563=) n.2483_2490delinsAATGGTGG n.2691_2698delinsAATGGTGG | |
1 | g.197427856A>C | CA344038059 | CRB1 | c.2531A>C (p.Asn844Thr) c.1412A>C (p.Asn471Thr) c.674A>C (p.Asn225Thr) c.2195A>C (p.Asn732Thr) c.2324A>C (p.Asn775Thr) c.2128+5900A>C (n.2128+5900A>C) n.2532A>C n.2740A>C c.1949A>C (p.Asn650Thr) c.974A>C (p.Asn325Thr) c.1688A>C (p.Asn563Thr) n.2484A>C n.2692A>C | |
1 | g.197427856A>G | CA344038064 | CRB1 | c.2531A>G (p.Asn844Ser) c.1412A>G (p.Asn471Ser) c.674A>G (p.Asn225Ser) c.2195A>G (p.Asn732Ser) c.2324A>G (p.Asn775Ser) c.2128+5900A>G (n.2128+5900A>G) n.2532A>G n.2740A>G c.1949A>G (p.Asn650Ser) c.974A>G (p.Asn325Ser) c.1688A>G (p.Asn563Ser) n.2484A>G n.2692A>G | gnomAD v4 |
1 | g.197427856A>T | CA344038065 | CRB1 | c.2531A>T (p.Asn844Ile) c.1412A>T (p.Asn471Ile) c.674A>T (p.Asn225Ile) c.2195A>T (p.Asn732Ile) c.2324A>T (p.Asn775Ile) c.2128+5900A>T (n.2128+5900A>T) n.2532A>T n.2740A>T c.1949A>T (p.Asn650Ile) c.974A>T (p.Asn325Ile) c.1688A>T (p.Asn563Ile) n.2484A>T n.2692A>T | |
1 | g.197427856_197427864delinsATGGTGGAT | CA1148228981 | CRB1 | c.2531_2539delinsATGGTGGAT (p.Asn844=) c.1412_1420delinsATGGTGGAT (p.Asn471=) c.674_682delinsATGGTGGAT (p.Asn225=) c.2195_2203delinsATGGTGGAT (p.Asn732=) c.2324_2332delinsATGGTGGAT (p.Asn775=) c.2128+5900_2128+5908delinsATGGTGGAT (n.2128+5900_2128+5908delinsATGGTGGAT) n.2532_2540delinsATGGTGGAT n.2740_2748delinsATGGTGGAT c.1949_1957delinsATGGTGGAT (p.Asn650=) c.974_982delinsATGGTGGAT (p.Asn325=) c.1688_1696delinsATGGTGGAT (p.Asn563=) n.2484_2492delinsATGGTGGAT n.2692_2700delinsATGGTGGAT | |
1 | g.197427858_197427864del | CA1312132 | CRB1 | c.2533_2539del (p.Gly845SerfsTer9) c.1414_1420del (p.Gly472SerfsTer9) c.676_682del (p.Gly226SerfsTer9) c.2197_2203del (p.Gly733SerfsTer9) c.2326_2332del (p.Gly776SerfsTer9) c.2128+5902_2128+5908del (n.2128+5902_2128+5908del) n.2534_2540del n.2742_2748del c.1951_1957del (p.Gly651SerfsTer9) c.976_982del (p.Gly326SerfsTer9) c.1690_1696del (p.Gly564SerfsTer9) n.2486_2492del n.2694_2700del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427857T>A | CA344038075 | CRB1 | c.2532T>A (p.Asn844Lys) c.1413T>A (p.Asn471Lys) c.675T>A (p.Asn225Lys) c.2196T>A (p.Asn732Lys) c.2325T>A (p.Asn775Lys) c.2128+5901T>A (n.2128+5901T>A) n.2533T>A n.2741T>A c.1950T>A (p.Asn650Lys) c.975T>A (p.Asn325Lys) c.1689T>A (p.Asn563Lys) n.2485T>A n.2693T>A | |
1 | g.197427857T>C | CA422808895 | CRB1 | c.2532T>C (p.Asn844=) c.1413T>C (p.Asn471=) c.675T>C (p.Asn225=) c.2196T>C (p.Asn732=) c.2325T>C (p.Asn775=) c.2128+5901T>C (n.2128+5901T>C) n.2533T>C n.2741T>C c.1950T>C (p.Asn650=) c.975T>C (p.Asn325=) c.1689T>C (p.Asn563=) n.2485T>C n.2693T>C | dbSNP gnomAD v4 |
1 | g.197427857T>G | CA344038071 | CRB1 | c.2532T>G (p.Asn844Lys) c.1413T>G (p.Asn471Lys) c.675T>G (p.Asn225Lys) c.2196T>G (p.Asn732Lys) c.2325T>G (p.Asn775Lys) c.2128+5901T>G (n.2128+5901T>G) n.2533T>G n.2741T>G c.1950T>G (p.Asn650Lys) c.975T>G (p.Asn325Lys) c.1689T>G (p.Asn563Lys) n.2485T>G n.2693T>G | |
1 | g.197427857T= | CA1218066368 | CRB1 | c.2532T= (p.Asn844=) c.1413T= (p.Asn471=) c.675T= (p.Asn225=) c.2196T= (p.Asn732=) c.2325T= (p.Asn775=) c.2128+5901T= (n.2128+5901T=) n.2533T= n.2741T= c.1950T= (p.Asn650=) c.975T= (p.Asn325=) c.1689T= (p.Asn563=) n.2485T= n.2693T= | |
1 | g.197427858G>A | CA344038077 | CRB1 | c.2533G>A (p.Gly845Ser) c.1414G>A (p.Gly472Ser) c.676G>A (p.Gly226Ser) c.2197G>A (p.Gly733Ser) c.2326G>A (p.Gly776Ser) c.2128+5902G>A (n.2128+5902G>A) n.2534G>A n.2742G>A c.1951G>A (p.Gly651Ser) c.976G>A (p.Gly326Ser) c.1690G>A (p.Gly564Ser) n.2486G>A n.2694G>A | COSMIC |
1 | g.197427858G>C | CA344038079 | CRB1 | c.2533G>C (p.Gly845Arg) c.1414G>C (p.Gly472Arg) c.676G>C (p.Gly226Arg) c.2197G>C (p.Gly733Arg) c.2326G>C (p.Gly776Arg) c.2128+5902G>C (n.2128+5902G>C) n.2534G>C n.2742G>C c.1951G>C (p.Gly651Arg) c.976G>C (p.Gly326Arg) c.1690G>C (p.Gly564Arg) n.2486G>C n.2694G>C | |
1 | g.197427858G= | CA1218066370 | CRB1 | c.2533G= (p.Gly845=) c.1414G= (p.Gly472=) c.676G= (p.Gly226=) c.2197G= (p.Gly733=) c.2326G= (p.Gly776=) c.2128+5902G= (n.2128+5902G=) n.2534G= n.2742G= c.1951G= (p.Gly651=) c.976G= (p.Gly326=) c.1690G= (p.Gly564=) n.2486G= n.2694G= | |
1 | g.197427858G>T | CA344038081 | CRB1 | c.2533G>T (p.Gly845Cys) c.1414G>T (p.Gly472Cys) c.676G>T (p.Gly226Cys) c.2197G>T (p.Gly733Cys) c.2326G>T (p.Gly776Cys) c.2128+5902G>T (n.2128+5902G>T) n.2534G>T n.2742G>T c.1951G>T (p.Gly651Cys) c.976G>T (p.Gly326Cys) c.1690G>T (p.Gly564Cys) n.2486G>T n.2694G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197427858_197427870del | CA2586964524 | CRB1 | c.2533_2545del (p.Gly845LysfsTer7) c.1414_1426del (p.Gly472LysfsTer7) c.676_688del (p.Gly226LysfsTer7) c.2197_2209del (p.Gly733LysfsTer7) c.2326_2338del (p.Gly776LysfsTer7) c.2128+5902_2128+5914del (n.2128+5902_2128+5914del) n.2534_2546del n.2742_2754del c.1951_1963del (p.Gly651LysfsTer7) c.976_988del (p.Gly326LysfsTer7) c.1690_1702del (p.Gly564LysfsTer7) n.2486_2498del n.2694_2706del | |
1 | g.197427859G>A | CA35901043 | CRB1 | c.2534G>A (p.Gly845Asp) c.1415G>A (p.Gly472Asp) c.677G>A (p.Gly226Asp) c.2198G>A (p.Gly733Asp) c.2327G>A (p.Gly776Asp) c.2128+5903G>A (n.2128+5903G>A) n.2535G>A n.2743G>A c.1952G>A (p.Gly651Asp) c.977G>A (p.Gly326Asp) c.1691G>A (p.Gly564Asp) n.2487G>A n.2695G>A | dbSNP gnomAD v4 |
1 | g.197427859G>C | CA344038091 | CRB1 | c.2534G>C (p.Gly845Ala) c.1415G>C (p.Gly472Ala) c.677G>C (p.Gly226Ala) c.2198G>C (p.Gly733Ala) c.2327G>C (p.Gly776Ala) c.2128+5903G>C (n.2128+5903G>C) n.2535G>C n.2743G>C c.1952G>C (p.Gly651Ala) c.977G>C (p.Gly326Ala) c.1691G>C (p.Gly564Ala) n.2487G>C n.2695G>C | dbSNP |
1 | g.197427859G= | CA1218066372 | CRB1 | c.2534G= (p.Gly845=) c.1415G= (p.Gly472=) c.677G= (p.Gly226=) c.2198G= (p.Gly733=) c.2327G= (p.Gly776=) c.2128+5903G= (n.2128+5903G=) n.2535G= n.2743G= c.1952G= (p.Gly651=) c.977G= (p.Gly326=) c.1691G= (p.Gly564=) n.2487G= n.2695G= | |
1 | g.197427859G>T | CA344038092 | CRB1 | c.2534G>T (p.Gly845Val) c.1415G>T (p.Gly472Val) c.677G>T (p.Gly226Val) c.2198G>T (p.Gly733Val) c.2327G>T (p.Gly776Val) c.2128+5903G>T (n.2128+5903G>T) n.2535G>T n.2743G>T c.1952G>T (p.Gly651Val) c.977G>T (p.Gly326Val) c.1691G>T (p.Gly564Val) n.2487G>T n.2695G>T | |
1 | g.197427860T>A | CA422808898 | CRB1 | c.2535T>A (p.Gly845=) c.1416T>A (p.Gly472=) c.678T>A (p.Gly226=) c.2199T>A (p.Gly733=) c.2328T>A (p.Gly776=) c.2128+5904T>A (n.2128+5904T>A) n.2536T>A n.2744T>A c.1953T>A (p.Gly651=) c.978T>A (p.Gly326=) c.1692T>A (p.Gly564=) n.2488T>A n.2696T>A | |
1 | g.197427860T>C | CA1312133 | CRB1 | c.2535T>C (p.Gly845=) c.1416T>C (p.Gly472=) c.678T>C (p.Gly226=) c.2199T>C (p.Gly733=) c.2328T>C (p.Gly776=) c.2128+5904T>C (n.2128+5904T>C) n.2536T>C n.2744T>C c.1953T>C (p.Gly651=) c.978T>C (p.Gly326=) c.1692T>C (p.Gly564=) n.2488T>C n.2696T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427860T>G | CA422808899 | CRB1 | c.2535T>G (p.Gly845=) c.1416T>G (p.Gly472=) c.678T>G (p.Gly226=) c.2199T>G (p.Gly733=) c.2328T>G (p.Gly776=) c.2128+5904T>G (n.2128+5904T>G) n.2536T>G n.2744T>G c.1953T>G (p.Gly651=) c.978T>G (p.Gly326=) c.1692T>G (p.Gly564=) n.2488T>G n.2696T>G | |
1 | g.197427860T= | CA1218066375 | CRB1 | c.2535T= (p.Gly845=) c.1416T= (p.Gly472=) c.678T= (p.Gly226=) c.2199T= (p.Gly733=) c.2328T= (p.Gly776=) c.2128+5904T= (n.2128+5904T=) n.2536T= n.2744T= c.1953T= (p.Gly651=) c.978T= (p.Gly326=) c.1692T= (p.Gly564=) n.2488T= n.2696T= | |
1 | g.197427861_197427867del | CA2586964525 | CRB1 | c.2536_2542del (p.Gly846SerfsTer8) c.1417_1423del (p.Gly473SerfsTer8) c.679_685del (p.Gly227SerfsTer8) c.2200_2206del (p.Gly734SerfsTer8) c.2329_2335del (p.Gly777SerfsTer8) c.2128+5905_2128+5911del (n.2128+5905_2128+5911del) n.2537_2543del n.2745_2751del c.1954_1960del (p.Gly652SerfsTer8) c.979_985del (p.Gly327SerfsTer8) c.1693_1699del (p.Gly565SerfsTer8) n.2489_2495del n.2697_2703del | |
1 | g.197427861G>A | CA1312134 | CRB1 | c.2536G>A (p.Gly846Arg) c.1417G>A (p.Gly473Arg) c.679G>A (p.Gly227Arg) c.2200G>A (p.Gly734Arg) c.2329G>A (p.Gly777Arg) c.2128+5905G>A (n.2128+5905G>A) n.2537G>A n.2745G>A c.1954G>A (p.Gly652Arg) c.979G>A (p.Gly327Arg) c.1693G>A (p.Gly565Arg) n.2489G>A n.2697G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427861G>C | CA344038102 | CRB1 | c.2536G>C (p.Gly846Arg) c.1417G>C (p.Gly473Arg) c.679G>C (p.Gly227Arg) c.2200G>C (p.Gly734Arg) c.2329G>C (p.Gly777Arg) c.2128+5905G>C (n.2128+5905G>C) n.2537G>C n.2745G>C c.1954G>C (p.Gly652Arg) c.979G>C (p.Gly327Arg) c.1693G>C (p.Gly565Arg) n.2489G>C n.2697G>C | |
1 | g.197427861G= | CA1145144645 | CRB1 | c.2536G= (p.Gly846=) c.1417G= (p.Gly473=) c.679G= (p.Gly227=) c.2200G= (p.Gly734=) c.2329G= (p.Gly777=) c.2128+5905G= (n.2128+5905G=) n.2537G= n.2745G= c.1954G= (p.Gly652=) c.979G= (p.Gly327=) c.1693G= (p.Gly565=) n.2489G= n.2697G= | |
1 | g.197427861G>T | CA344038108 | CRB1 | c.2536G>T (p.Gly846Ter) c.1417G>T (p.Gly473Ter) c.679G>T (p.Gly227Ter) c.2200G>T (p.Gly734Ter) c.2329G>T (p.Gly777Ter) c.2128+5905G>T (n.2128+5905G>T) n.2537G>T n.2745G>T c.1954G>T (p.Gly652Ter) c.979G>T (p.Gly327Ter) c.1693G>T (p.Gly565Ter) n.2489G>T n.2697G>T | ClinVar |
1 | g.197427862G>A | CA1312135 | CRB1 | c.2537G>A (p.Gly846Glu) c.1418G>A (p.Gly473Glu) c.680G>A (p.Gly227Glu) c.2201G>A (p.Gly734Glu) c.2330G>A (p.Gly777Glu) c.2128+5906G>A (n.2128+5906G>A) n.2538G>A n.2746G>A c.1955G>A (p.Gly652Glu) c.980G>A (p.Gly327Glu) c.1694G>A (p.Gly565Glu) n.2490G>A n.2698G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197427862G>C | CA344038116 | CRB1 | c.2537G>C (p.Gly846Ala) c.1418G>C (p.Gly473Ala) c.680G>C (p.Gly227Ala) c.2201G>C (p.Gly734Ala) c.2330G>C (p.Gly777Ala) c.2128+5906G>C (n.2128+5906G>C) n.2538G>C n.2746G>C c.1955G>C (p.Gly652Ala) c.980G>C (p.Gly327Ala) c.1694G>C (p.Gly565Ala) n.2490G>C n.2698G>C | COSMIC |
1 | g.197427862G= | CA1218066378 | CRB1 | c.2537G= (p.Gly846=) c.1418G= (p.Gly473=) c.680G= (p.Gly227=) c.2201G= (p.Gly734=) c.2330G= (p.Gly777=) c.2128+5906G= (n.2128+5906G=) n.2538G= n.2746G= c.1955G= (p.Gly652=) c.980G= (p.Gly327=) c.1694G= (p.Gly565=) n.2490G= n.2698G= | |
1 | g.197427862G>T | CA344038118 | CRB1 | c.2537G>T (p.Gly846Val) c.1418G>T (p.Gly473Val) c.680G>T (p.Gly227Val) c.2201G>T (p.Gly734Val) c.2330G>T (p.Gly777Val) c.2128+5906G>T (n.2128+5906G>T) n.2538G>T n.2746G>T c.1955G>T (p.Gly652Val) c.980G>T (p.Gly327Val) c.1694G>T (p.Gly565Val) n.2490G>T n.2698G>T | gnomAD v4 |
1 | g.197427863A= | CA1141655576 | CRB1 | c.2538A= (p.Gly846=) c.1419A= (p.Gly473=) c.681A= (p.Gly227=) c.2202A= (p.Gly734=) c.2331A= (p.Gly777=) c.2128+5907A= (n.2128+5907A=) n.2539A= n.2747A= c.1956A= (p.Gly652=) c.981A= (p.Gly327=) c.1695A= (p.Gly565=) n.2491A= n.2699A= | |
1 | g.197427863A>C | CA422808900 | CRB1 | c.2538A>C (p.Gly846=) c.1419A>C (p.Gly473=) c.681A>C (p.Gly227=) c.2202A>C (p.Gly734=) c.2331A>C (p.Gly777=) c.2128+5907A>C (n.2128+5907A>C) n.2539A>C n.2747A>C c.1956A>C (p.Gly652=) c.981A>C (p.Gly327=) c.1695A>C (p.Gly565=) n.2491A>C n.2699A>C | |
1 | g.197427863A>G | CA422808901 | CRB1 | c.2538A>G (p.Gly846=) c.1419A>G (p.Gly473=) c.681A>G (p.Gly227=) c.2202A>G (p.Gly734=) c.2331A>G (p.Gly777=) c.2128+5907A>G (n.2128+5907A>G) n.2539A>G n.2747A>G c.1956A>G (p.Gly652=) c.981A>G (p.Gly327=) c.1695A>G (p.Gly565=) n.2491A>G n.2699A>G | |
1 | g.197427863A>T | CA1312136 | CRB1 | c.2538A>T (p.Gly846=) c.1419A>T (p.Gly473=) c.681A>T (p.Gly227=) c.2202A>T (p.Gly734=) c.2331A>T (p.Gly777=) c.2128+5907A>T (n.2128+5907A>T) n.2539A>T n.2747A>T c.1956A>T (p.Gly652=) c.981A>T (p.Gly327=) c.1695A>T (p.Gly565=) n.2491A>T n.2699A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427864T>A | CA344038125 | CRB1 | c.2539T>A (p.Phe847Ile) c.1420T>A (p.Phe474Ile) c.682T>A (p.Phe228Ile) c.2203T>A (p.Phe735Ile) c.2332T>A (p.Phe778Ile) c.2128+5908T>A (n.2128+5908T>A) n.2540T>A n.2748T>A c.1957T>A (p.Phe653Ile) c.982T>A (p.Phe328Ile) c.1696T>A (p.Phe566Ile) n.2492T>A n.2700T>A | |
1 | g.197427864T>C | CA344038124 | CRB1 | c.2539T>C (p.Phe847Leu) c.1420T>C (p.Phe474Leu) c.682T>C (p.Phe228Leu) c.2203T>C (p.Phe735Leu) c.2332T>C (p.Phe778Leu) c.2128+5908T>C (n.2128+5908T>C) n.2540T>C n.2748T>C c.1957T>C (p.Phe653Leu) c.982T>C (p.Phe328Leu) c.1696T>C (p.Phe566Leu) n.2492T>C n.2700T>C | |
1 | g.197427864T>G | CA344038126 | CRB1 | c.2539T>G (p.Phe847Val) c.1420T>G (p.Phe474Val) c.682T>G (p.Phe228Val) c.2203T>G (p.Phe735Val) c.2332T>G (p.Phe778Val) c.2128+5908T>G (n.2128+5908T>G) n.2540T>G n.2748T>G c.1957T>G (p.Phe653Val) c.982T>G (p.Phe328Val) c.1696T>G (p.Phe566Val) n.2492T>G n.2700T>G | |
1 | g.197427865T>A | CA344038127 | CRB1 | c.2540T>A (p.Phe847Tyr) c.1421T>A (p.Phe474Tyr) c.683T>A (p.Phe228Tyr) c.2204T>A (p.Phe735Tyr) c.2333T>A (p.Phe778Tyr) c.2128+5909T>A (n.2128+5909T>A) n.2541T>A n.2749T>A c.1958T>A (p.Phe653Tyr) c.983T>A (p.Phe328Tyr) c.1697T>A (p.Phe566Tyr) n.2493T>A n.2701T>A | dbSNP |
1 | g.197427865T>C | CA35901083 | CRB1 | c.2540T>C (p.Phe847Ser) c.1421T>C (p.Phe474Ser) c.683T>C (p.Phe228Ser) c.2204T>C (p.Phe735Ser) c.2333T>C (p.Phe778Ser) c.2128+5909T>C (n.2128+5909T>C) n.2541T>C n.2749T>C c.1958T>C (p.Phe653Ser) c.983T>C (p.Phe328Ser) c.1697T>C (p.Phe566Ser) n.2493T>C n.2701T>C | ClinVar dbSNP gnomAD v4 |
1 | g.197427865T>G | CA344038129 | CRB1 | c.2540T>G (p.Phe847Cys) c.1421T>G (p.Phe474Cys) c.683T>G (p.Phe228Cys) c.2204T>G (p.Phe735Cys) c.2333T>G (p.Phe778Cys) c.2128+5909T>G (n.2128+5909T>G) n.2541T>G n.2749T>G c.1958T>G (p.Phe653Cys) c.983T>G (p.Phe328Cys) c.1697T>G (p.Phe566Cys) n.2493T>G n.2701T>G | |
1 | g.197427865T= | CA1218066384 | CRB1 | c.2540T= (p.Phe847=) c.1421T= (p.Phe474=) c.683T= (p.Phe228=) c.2204T= (p.Phe735=) c.2333T= (p.Phe778=) c.2128+5909T= (n.2128+5909T=) n.2541T= n.2749T= c.1958T= (p.Phe653=) c.983T= (p.Phe328=) c.1697T= (p.Phe566=) n.2493T= n.2701T= | |
1 | g.197427866_197427867del | CA2573131446 | CRB1 | c.2541_2542del (p.Phe848GlnfsTer?) c.1422_1423del (p.Phe475GlnfsTer?) c.684_685del (p.Phe229GlnfsTer?) c.2205_2206del (p.Phe736GlnfsTer?) c.2334_2335del (p.Phe779GlnfsTer?) c.2128+5910_2128+5911del (n.2128+5910_2128+5911del) n.2542_2543del n.2750_2751del c.1959_1960del (p.Phe654GlnfsTer?) c.984_985del (p.Phe329GlnfsTer?) c.1698_1699del (p.Phe567GlnfsTer?) n.2494_2495del n.2702_2703del | ClinVar dbSNP |
1 | g.197427865_197427866insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG | CA2844919699 | CRB1 | c.2540_2541insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe847LeufsTer17) c.1421_1422insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe474LeufsTer17) c.683_684insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe228LeufsTer17) c.2204_2205insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe735LeufsTer17) c.2333_2334insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe778LeufsTer17) c.2128+5909_2128+5910insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (n.2128+5909_2128+5910insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG) n.2541_2542insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG n.2749_2750insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG c.1958_1959insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe653LeufsTer17) c.983_984insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe328LeufsTer17) c.1697_1698insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG (p.Phe566LeufsTer17) n.2493_2494insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG n.2701_2702insGACGCAAAACCCGCGTCAATCCACCATTTTTTACTGGAGTTACCGCTAAAAATAGCGTAAAATATGACCTTCCTTACCGTCGGGTGAGTAAGGCCATTCCTTGTCGGCTTGCATAGTGCCTG | |
1 | g.197427866C>A | CA344038131 | CRB1 | c.2541C>A (p.Phe847Leu) c.1422C>A (p.Phe474Leu) c.684C>A (p.Phe228Leu) c.2205C>A (p.Phe735Leu) c.2334C>A (p.Phe778Leu) c.2128+5910C>A (n.2128+5910C>A) n.2542C>A n.2750C>A c.1959C>A (p.Phe653Leu) c.984C>A (p.Phe328Leu) c.1698C>A (p.Phe566Leu) n.2494C>A n.2702C>A | |
1 | g.197427866C= | CA1218066387 | CRB1 | c.2541C= (p.Phe847=) c.1422C= (p.Phe474=) c.684C= (p.Phe228=) c.2205C= (p.Phe735=) c.2334C= (p.Phe778=) c.2128+5910C= (n.2128+5910C=) n.2542C= n.2750C= c.1959C= (p.Phe653=) c.984C= (p.Phe328=) c.1698C= (p.Phe566=) n.2494C= n.2702C= | |
1 | g.197427866C>G | CA344038133 | CRB1 | c.2541C>G (p.Phe847Leu) c.1422C>G (p.Phe474Leu) c.684C>G (p.Phe228Leu) c.2205C>G (p.Phe735Leu) c.2334C>G (p.Phe778Leu) c.2128+5910C>G (n.2128+5910C>G) n.2542C>G n.2750C>G c.1959C>G (p.Phe653Leu) c.984C>G (p.Phe328Leu) c.1698C>G (p.Phe566Leu) n.2494C>G n.2702C>G | |
1 | g.197427866C>T | CA422808905 | CRB1 | c.2541C>T (p.Phe847=) c.1422C>T (p.Phe474=) c.684C>T (p.Phe228=) c.2205C>T (p.Phe735=) c.2334C>T (p.Phe778=) c.2128+5910C>T (n.2128+5910C>T) n.2542C>T n.2750C>T c.1959C>T (p.Phe653=) c.984C>T (p.Phe328=) c.1698C>T (p.Phe566=) n.2494C>T n.2702C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197427867T>A | CA344038141 | CRB1 | c.2542T>A (p.Phe848Ile) c.1423T>A (p.Phe475Ile) c.685T>A (p.Phe229Ile) c.2206T>A (p.Phe736Ile) c.2335T>A (p.Phe779Ile) c.2128+5911T>A (n.2128+5911T>A) n.2543T>A n.2751T>A c.1960T>A (p.Phe654Ile) c.985T>A (p.Phe329Ile) c.1699T>A (p.Phe567Ile) n.2495T>A n.2703T>A | |
1 | g.197427867T>C | CA344038139 | CRB1 | c.2542T>C (p.Phe848Leu) c.1423T>C (p.Phe475Leu) c.685T>C (p.Phe229Leu) c.2206T>C (p.Phe736Leu) c.2335T>C (p.Phe779Leu) c.2128+5911T>C (n.2128+5911T>C) n.2543T>C n.2751T>C c.1960T>C (p.Phe654Leu) c.985T>C (p.Phe329Leu) c.1699T>C (p.Phe567Leu) n.2495T>C n.2703T>C | gnomAD v4 |
1 | g.197427867T>G | CA344038136 | CRB1 | c.2542T>G (p.Phe848Val) c.1423T>G (p.Phe475Val) c.685T>G (p.Phe229Val) c.2206T>G (p.Phe736Val) c.2335T>G (p.Phe779Val) c.2128+5911T>G (n.2128+5911T>G) n.2543T>G n.2751T>G c.1960T>G (p.Phe654Val) c.985T>G (p.Phe329Val) c.1699T>G (p.Phe567Val) n.2495T>G n.2703T>G | |
1 | g.197427868del | CA2740090300 | CRB1 | c.2543del (p.Phe848SerfsTer8) c.1424del (p.Phe475SerfsTer8) c.686del (p.Phe229SerfsTer8) c.2207del (p.Phe736SerfsTer8) c.2336del (p.Phe779SerfsTer8) c.2128+5912del (n.2128+5912del) n.2544del n.2752del c.1961del (p.Phe654SerfsTer8) c.986del (p.Phe329SerfsTer8) c.1700del (p.Phe567SerfsTer8) n.2496del n.2704del | ClinVar |
1 | g.197427868T>A | CA344038146 | CRB1 | c.2543T>A (p.Phe848Tyr) c.1424T>A (p.Phe475Tyr) c.686T>A (p.Phe229Tyr) c.2207T>A (p.Phe736Tyr) c.2336T>A (p.Phe779Tyr) c.2128+5912T>A (n.2128+5912T>A) n.2544T>A n.2752T>A c.1961T>A (p.Phe654Tyr) c.986T>A (p.Phe329Tyr) c.1700T>A (p.Phe567Tyr) n.2496T>A n.2704T>A | |
1 | g.197427868T>C | CA344038148 | CRB1 | c.2543T>C (p.Phe848Ser) c.1424T>C (p.Phe475Ser) c.686T>C (p.Phe229Ser) c.2207T>C (p.Phe736Ser) c.2336T>C (p.Phe779Ser) c.2128+5912T>C (n.2128+5912T>C) n.2544T>C n.2752T>C c.1961T>C (p.Phe654Ser) c.986T>C (p.Phe329Ser) c.1700T>C (p.Phe567Ser) n.2496T>C n.2704T>C | |
1 | g.197427868T>G | CA344038153 | CRB1 | c.2543T>G (p.Phe848Cys) c.1424T>G (p.Phe475Cys) c.686T>G (p.Phe229Cys) c.2207T>G (p.Phe736Cys) c.2336T>G (p.Phe779Cys) c.2128+5912T>G (n.2128+5912T>G) n.2544T>G n.2752T>G c.1961T>G (p.Phe654Cys) c.986T>G (p.Phe329Cys) c.1700T>G (p.Phe567Cys) n.2496T>G n.2704T>G | |
1 | g.197427869C>A | CA344038162 | CRB1 | c.2544C>A (p.Phe848Leu) c.1425C>A (p.Phe475Leu) c.687C>A (p.Phe229Leu) c.2208C>A (p.Phe736Leu) c.2337C>A (p.Phe779Leu) c.2128+5913C>A (n.2128+5913C>A) n.2545C>A n.2753C>A c.1962C>A (p.Phe654Leu) c.987C>A (p.Phe329Leu) c.1701C>A (p.Phe567Leu) n.2497C>A n.2705C>A | |
1 | g.197427869C= | CA1218066390 | CRB1 | c.2544C= (p.Phe848=) c.1425C= (p.Phe475=) c.687C= (p.Phe229=) c.2208C= (p.Phe736=) c.2337C= (p.Phe779=) c.2128+5913C= (n.2128+5913C=) n.2545C= n.2753C= c.1962C= (p.Phe654=) c.987C= (p.Phe329=) c.1701C= (p.Phe567=) n.2497C= n.2705C= | |
1 | g.197427869C>G | CA344038163 | CRB1 | c.2544C>G (p.Phe848Leu) c.1425C>G (p.Phe475Leu) c.687C>G (p.Phe229Leu) c.2208C>G (p.Phe736Leu) c.2337C>G (p.Phe779Leu) c.2128+5913C>G (n.2128+5913C>G) n.2545C>G n.2753C>G c.1962C>G (p.Phe654Leu) c.987C>G (p.Phe329Leu) c.1701C>G (p.Phe567Leu) n.2497C>G n.2705C>G | |
1 | g.197427869C>T | CA1312137 | CRB1 | c.2544C>T (p.Phe848=) c.1425C>T (p.Phe475=) c.687C>T (p.Phe229=) c.2208C>T (p.Phe736=) c.2337C>T (p.Phe779=) c.2128+5913C>T (n.2128+5913C>T) n.2545C>T n.2753C>T c.1962C>T (p.Phe654=) c.987C>T (p.Phe329=) c.1701C>T (p.Phe567=) n.2497C>T n.2705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197427870A>C | CA344038167 | CRB1 | c.2545A>C (p.Lys849Gln) c.1426A>C (p.Lys476Gln) c.688A>C (p.Lys230Gln) c.2209A>C (p.Lys737Gln) c.2338A>C (p.Lys780Gln) c.2128+5914A>C (n.2128+5914A>C) n.2546A>C n.2754A>C c.1963A>C (p.Lys655Gln) c.988A>C (p.Lys330Gln) c.1702A>C (p.Lys568Gln) n.2498A>C n.2706A>C | |
1 | g.197427870A>G | CA344038165 | CRB1 | c.2545A>G (p.Lys849Glu) c.1426A>G (p.Lys476Glu) c.688A>G (p.Lys230Glu) c.2209A>G (p.Lys737Glu) c.2338A>G (p.Lys780Glu) c.2128+5914A>G (n.2128+5914A>G) n.2546A>G n.2754A>G c.1963A>G (p.Lys655Glu) c.988A>G (p.Lys330Glu) c.1702A>G (p.Lys568Glu) n.2498A>G n.2706A>G | |
1 | g.197427870A>T | CA344038166 | CRB1 | c.2545A>T (p.Lys849Ter) c.1426A>T (p.Lys476Ter) c.688A>T (p.Lys230Ter) c.2209A>T (p.Lys737Ter) c.2338A>T (p.Lys780Ter) c.2128+5914A>T (n.2128+5914A>T) n.2546A>T n.2754A>T c.1963A>T (p.Lys655Ter) c.988A>T (p.Lys330Ter) c.1702A>T (p.Lys568Ter) n.2498A>T n.2706A>T | |
1 | g.197427871A>C | CA344038168 | CRB1 | c.2546A>C (p.Lys849Thr) c.1427A>C (p.Lys476Thr) c.689A>C (p.Lys230Thr) c.2210A>C (p.Lys737Thr) c.2339A>C (p.Lys780Thr) c.2128+5915A>C (n.2128+5915A>C) n.2547A>C n.2755A>C c.1964A>C (p.Lys655Thr) c.989A>C (p.Lys330Thr) c.1703A>C (p.Lys568Thr) n.2499A>C n.2707A>C | |
1 | g.197427871A>G | CA344038171 | CRB1 | c.2546A>G (p.Lys849Arg) c.1427A>G (p.Lys476Arg) c.689A>G (p.Lys230Arg) c.2210A>G (p.Lys737Arg) c.2339A>G (p.Lys780Arg) c.2128+5915A>G (n.2128+5915A>G) n.2547A>G n.2755A>G c.1964A>G (p.Lys655Arg) c.989A>G (p.Lys330Arg) c.1703A>G (p.Lys568Arg) n.2499A>G n.2707A>G | |
1 | g.197427871A>T | CA344038172 | CRB1 | c.2546A>T (p.Lys849Ile) c.1427A>T (p.Lys476Ile) c.689A>T (p.Lys230Ile) c.2210A>T (p.Lys737Ile) c.2339A>T (p.Lys780Ile) c.2128+5915A>T (n.2128+5915A>T) n.2547A>T n.2755A>T c.1964A>T (p.Lys655Ile) c.989A>T (p.Lys330Ile) c.1703A>T (p.Lys568Ile) n.2499A>T n.2707A>T | |
1 | g.197427872A= | CA1218066398 | CRB1 | c.2547A= (p.Lys849=) c.1428A= (p.Lys476=) c.690A= (p.Lys230=) c.2211A= (p.Lys737=) c.2340A= (p.Lys780=) c.2128+5916A= (n.2128+5916A=) n.2548A= n.2756A= c.1965A= (p.Lys655=) c.990A= (p.Lys330=) c.1704A= (p.Lys568=) n.2500A= n.2708A= | |
1 | g.197427872A>C | CA344038175 | CRB1 | c.2547A>C (p.Lys849Asn) c.1428A>C (p.Lys476Asn) c.690A>C (p.Lys230Asn) c.2211A>C (p.Lys737Asn) c.2340A>C (p.Lys780Asn) c.2128+5916A>C (n.2128+5916A>C) n.2548A>C n.2756A>C c.1965A>C (p.Lys655Asn) c.990A>C (p.Lys330Asn) c.1704A>C (p.Lys568Asn) n.2500A>C n.2708A>C | |
1 | g.197427872A>G | CA1312138 | CRB1 | c.2547A>G (p.Lys849=) c.1428A>G (p.Lys476=) c.690A>G (p.Lys230=) c.2211A>G (p.Lys737=) c.2340A>G (p.Lys780=) c.2128+5916A>G (n.2128+5916A>G) n.2548A>G n.2756A>G c.1965A>G (p.Lys655=) c.990A>G (p.Lys330=) c.1704A>G (p.Lys568=) n.2500A>G n.2708A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197427872A>T | CA344038176 | CRB1 | c.2547A>T (p.Lys849Asn) c.1428A>T (p.Lys476Asn) c.690A>T (p.Lys230Asn) c.2211A>T (p.Lys737Asn) c.2340A>T (p.Lys780Asn) c.2128+5916A>T (n.2128+5916A>T) n.2548A>T n.2756A>T c.1965A>T (p.Lys655Asn) c.990A>T (p.Lys330Asn) c.1704A>T (p.Lys568Asn) n.2500A>T n.2708A>T | |
1 | g.197427872_197427876delinsAGGCT | CA1218066396 | CRB1 | c.2547_2551delinsAGGCT (p.Lys849=) c.1428_1432delinsAGGCT (p.Lys476=) c.690_694delinsAGGCT (p.Lys230=) c.2211_2215delinsAGGCT (p.Lys737=) c.2340_2344delinsAGGCT (p.Lys780=) c.2128+5916_2128+5920delinsAGGCT (n.2128+5916_2128+5920delinsAGGCT) n.2548_2552delinsAGGCT n.2756_2760delinsAGGCT c.1965_1969delinsAGGCT (p.Lys655=) c.990_994delinsAGGCT (p.Lys330=) c.1704_1708delinsAGGCT (p.Lys568=) n.2500_2504delinsAGGCT n.2708_2712delinsAGGCT | |
1 | g.197427873G>A | CA1312139 | CRB1 | c.2548G>A (p.Gly850Ser) c.1429G>A (p.Gly477Ser) c.691G>A (p.Gly231Ser) c.2212G>A (p.Gly738Ser) c.2341G>A (p.Gly781Ser) c.2128+5917G>A (n.2128+5917G>A) n.2549G>A n.2757G>A c.1966G>A (p.Gly656Ser) c.991G>A (p.Gly331Ser) c.1705G>A (p.Gly569Ser) n.2501G>A n.2709G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197427873G>C | CA344038180 | CRB1 | c.2548G>C (p.Gly850Arg) c.1429G>C (p.Gly477Arg) c.691G>C (p.Gly231Arg) c.2212G>C (p.Gly738Arg) c.2341G>C (p.Gly781Arg) c.2128+5917G>C (n.2128+5917G>C) n.2549G>C n.2757G>C c.1966G>C (p.Gly656Arg) c.991G>C (p.Gly331Arg) c.1705G>C (p.Gly569Arg) n.2501G>C n.2709G>C | gnomAD v4 |
1 | g.197427873G= | CA1218066404 | CRB1 | c.2548G= (p.Gly850=) c.1429G= (p.Gly477=) c.691G= (p.Gly231=) c.2212G= (p.Gly738=) c.2341G= (p.Gly781=) c.2128+5917G= (n.2128+5917G=) n.2549G= n.2757G= c.1966G= (p.Gly656=) c.991G= (p.Gly331=) c.1705G= (p.Gly569=) n.2501G= n.2709G= | |
1 | g.197427873G>T | CA344038183 | CRB1 | c.2548G>T (p.Gly850Cys) c.1429G>T (p.Gly477Cys) c.691G>T (p.Gly231Cys) c.2212G>T (p.Gly738Cys) c.2341G>T (p.Gly781Cys) c.2128+5917G>T (n.2128+5917G>T) n.2549G>T n.2757G>T c.1966G>T (p.Gly656Cys) c.991G>T (p.Gly331Cys) c.1705G>T (p.Gly569Cys) n.2501G>T n.2709G>T | ClinVar COSMIC COSMIC |
1 | g.197427873_197427877delinsGGCTG | CA1140762946 | CRB1 | c.2548_2552delinsGGCTG (p.Gly850=) c.1429_1433delinsGGCTG (p.Gly477=) c.691_695delinsGGCTG (p.Gly231=) c.2212_2216delinsGGCTG (p.Gly738=) c.2341_2345delinsGGCTG (p.Gly781=) c.2128+5917_2128+5921delinsGGCTG (n.2128+5917_2128+5921delinsGGCTG) n.2549_2553delinsGGCTG n.2757_2761delinsGGCTG c.1966_1970delinsGGCTG (p.Gly656=) c.991_995delinsGGCTG (p.Gly331=) c.1705_1709delinsGGCTG (p.Gly569=) n.2501_2505delinsGGCTG n.2709_2713delinsGGCTG | |
1 | g.197427874_197427877del | CA228012 | CRB1 | c.2549_2552del (p.Gly850ValfsTer5) c.1430_1433del (p.Gly477ValfsTer5) c.692_695del (p.Gly231ValfsTer5) c.2213_2216del (p.Gly738ValfsTer5) c.2342_2345del (p.Gly781ValfsTer5) c.2128+5918_2128+5921del (n.2128+5918_2128+5921del) n.2550_2553del n.2758_2761del c.1967_1970del (p.Gly656ValfsTer5) c.992_995del (p.Gly331ValfsTer5) c.1706_1709del (p.Gly569ValfsTer5) n.2502_2505del n.2710_2713del | ClinVar dbSNP |