Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197427768_197427769delinsAACA645534549CRB1c.2443_2444delinsAA (p.Gly815Lys)
c.1324_1325delinsAA (p.Gly442Lys)
c.586_587delinsAA (p.Gly196Lys)
c.2107_2108delinsAA (p.Gly703Lys)
n.344_345delinsAA
c.2236_2237delinsAA (p.Gly746Lys)
c.2128+5812_2128+5813delinsAA (n.2128+5812_2128+5813delinsAA)
n.2444_2445delinsAA
n.2652_2653delinsAA
c.1861_1862delinsAA (p.Gly621Lys)
c.886_887delinsAA (p.Gly296Lys)
c.1600_1601delinsAA (p.Gly534Lys)
n.2396_2397delinsAA
n.2604_2605delinsAA
 COSMIC
1g.197427769G>ACA344037388CRB1c.2444G>A (p.Gly815Glu)
c.1325G>A (p.Gly442Glu)
c.587G>A (p.Gly196Glu)
c.2108G>A (p.Gly703Glu)
n.345G>A
c.2237G>A (p.Gly746Glu)
c.2128+5813G>A (n.2128+5813G>A)
n.2445G>A
n.2653G>A
c.1862G>A (p.Gly621Glu)
c.887G>A (p.Gly296Glu)
c.1601G>A (p.Gly534Glu)
n.2397G>A
n.2605G>A
 COSMIC COSMIC
1g.197427769G>CCA344037390CRB1c.2444G>C (p.Gly815Ala)
c.1325G>C (p.Gly442Ala)
c.587G>C (p.Gly196Ala)
c.2108G>C (p.Gly703Ala)
n.345G>C
c.2237G>C (p.Gly746Ala)
c.2128+5813G>C (n.2128+5813G>C)
n.2445G>C
n.2653G>C
c.1862G>C (p.Gly621Ala)
c.887G>C (p.Gly296Ala)
c.1601G>C (p.Gly534Ala)
n.2397G>C
n.2605G>C
1g.197427769G>TCA344037393CRB1c.2444G>T (p.Gly815Val)
c.1325G>T (p.Gly442Val)
c.587G>T (p.Gly196Val)
c.2108G>T (p.Gly703Val)
n.345G>T
c.2237G>T (p.Gly746Val)
c.2128+5813G>T (n.2128+5813G>T)
n.2445G>T
n.2653G>T
c.1862G>T (p.Gly621Val)
c.887G>T (p.Gly296Val)
c.1601G>T (p.Gly534Val)
n.2397G>T
n.2605G>T
 gnomAD v4
1g.197427770A>CCA422808758CRB1c.2445A>C (p.Gly815=)
c.1326A>C (p.Gly442=)
c.588A>C (p.Gly196=)
c.2109A>C (p.Gly703=)
n.346A>C
c.2238A>C (p.Gly746=)
c.2128+5814A>C (n.2128+5814A>C)
n.2446A>C
n.2654A>C
c.1863A>C (p.Gly621=)
c.888A>C (p.Gly296=)
c.1602A>C (p.Gly534=)
n.2398A>C
n.2606A>C
1g.197427770A>GCA422808762CRB1c.2445A>G (p.Gly815=)
c.1326A>G (p.Gly442=)
c.588A>G (p.Gly196=)
c.2109A>G (p.Gly703=)
n.346A>G
c.2238A>G (p.Gly746=)
c.2128+5814A>G (n.2128+5814A>G)
n.2446A>G
n.2654A>G
c.1863A>G (p.Gly621=)
c.888A>G (p.Gly296=)
c.1602A>G (p.Gly534=)
n.2398A>G
n.2606A>G
1g.197427770A>TCA422808760CRB1c.2445A>T (p.Gly815=)
c.1326A>T (p.Gly442=)
c.588A>T (p.Gly196=)
c.2109A>T (p.Gly703=)
n.346A>T
c.2238A>T (p.Gly746=)
c.2128+5814A>T (n.2128+5814A>T)
n.2446A>T
n.2654A>T
c.1863A>T (p.Gly621=)
c.888A>T (p.Gly296=)
c.1602A>T (p.Gly534=)
n.2398A>T
n.2606A>T
1g.197427771T>ACA344037401CRB1c.2446T>A (p.Phe816Ile)
c.1327T>A (p.Phe443Ile)
c.589T>A (p.Phe197Ile)
c.2110T>A (p.Phe704Ile)
n.347T>A
c.2239T>A (p.Phe747Ile)
c.2128+5815T>A (n.2128+5815T>A)
n.2447T>A
n.2655T>A
c.1864T>A (p.Phe622Ile)
c.889T>A (p.Phe297Ile)
c.1603T>A (p.Phe535Ile)
n.2399T>A
n.2607T>A
1g.197427771T>CCA344037404CRB1c.2446T>C (p.Phe816Leu)
c.1327T>C (p.Phe443Leu)
c.589T>C (p.Phe197Leu)
c.2110T>C (p.Phe704Leu)
n.347T>C
c.2239T>C (p.Phe747Leu)
c.2128+5815T>C (n.2128+5815T>C)
n.2447T>C
n.2655T>C
c.1864T>C (p.Phe622Leu)
c.889T>C (p.Phe297Leu)
c.1603T>C (p.Phe535Leu)
n.2399T>C
n.2607T>C
1g.197427771T>GCA344037397CRB1c.2446T>G (p.Phe816Val)
c.1327T>G (p.Phe443Val)
c.589T>G (p.Phe197Val)
c.2110T>G (p.Phe704Val)
n.347T>G
c.2239T>G (p.Phe747Val)
c.2128+5815T>G (n.2128+5815T>G)
n.2447T>G
n.2655T>G
c.1864T>G (p.Phe622Val)
c.889T>G (p.Phe297Val)
c.1603T>G (p.Phe535Val)
n.2399T>G
n.2607T>G
 dbSNP
1g.197427771T=CA1218066260CRB1c.2446T= (p.Phe816=)
c.1327T= (p.Phe443=)
c.589T= (p.Phe197=)
c.2110T= (p.Phe704=)
n.347T=
c.2239T= (p.Phe747=)
c.2128+5815T= (n.2128+5815T=)
n.2447T=
n.2655T=
c.1864T= (p.Phe622=)
c.889T= (p.Phe297=)
c.1603T= (p.Phe535=)
n.2399T=
n.2607T=
1g.197427772T>ACA344037411CRB1c.2447T>A (p.Phe816Tyr)
c.1328T>A (p.Phe443Tyr)
c.590T>A (p.Phe197Tyr)
c.2111T>A (p.Phe704Tyr)
n.348T>A
c.2240T>A (p.Phe747Tyr)
c.2128+5816T>A (n.2128+5816T>A)
n.2448T>A
n.2656T>A
c.1865T>A (p.Phe622Tyr)
c.890T>A (p.Phe297Tyr)
c.1604T>A (p.Phe535Tyr)
n.2400T>A
n.2608T>A
1g.197427772T>CCA344037413CRB1c.2447T>C (p.Phe816Ser)
c.1328T>C (p.Phe443Ser)
c.590T>C (p.Phe197Ser)
c.2111T>C (p.Phe704Ser)
n.348T>C
c.2240T>C (p.Phe747Ser)
c.2128+5816T>C (n.2128+5816T>C)
n.2448T>C
n.2656T>C
c.1865T>C (p.Phe622Ser)
c.890T>C (p.Phe297Ser)
c.1604T>C (p.Phe535Ser)
n.2400T>C
n.2608T>C
1g.197427772T>GCA344037417CRB1c.2447T>G (p.Phe816Cys)
c.1328T>G (p.Phe443Cys)
c.590T>G (p.Phe197Cys)
c.2111T>G (p.Phe704Cys)
n.348T>G
c.2240T>G (p.Phe747Cys)
c.2128+5816T>G (n.2128+5816T>G)
n.2448T>G
n.2656T>G
c.1865T>G (p.Phe622Cys)
c.890T>G (p.Phe297Cys)
c.1604T>G (p.Phe535Cys)
n.2400T>G
n.2608T>G
1g.197427773T>ACA344037419CRB1c.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
1g.197427773T>CCA422808764CRB1c.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
1g.197427773T>GCA344037421CRB1c.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
1g.197427774A>CCA344037426CRB1c.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
1g.197427774A>GCA344037428CRB1c.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
1g.197427774A>TCA344037430CRB1c.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
1g.197427775T>ACA344037435CRB1c.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
1g.197427775T>CCA344037437CRB1c.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
1g.197427775T>GCA344037439CRB1c.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
1g.197427776T>ACA422808767CRB1c.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
1g.197427776T>CCA422808768CRB1c.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
1g.197427776T>GCA344037440CRB1c.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
1g.197427777T>ACA344037449CRB1c.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
1g.197427777T>CCA344037443CRB1c.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
1g.197427777T>GCA344037446CRB1c.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
1g.197427778C>ACA344037454CRB1c.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
1g.197427778C>GCA344037457CRB1c.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
1g.197427778C>TCA344037460CRB1c.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
1g.197427779T>ACA422808770CRB1c.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
1g.197427779T>CCA422808771CRB1c.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
1g.197427779T>GCA422808772CRB1c.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
1g.197427780G>ACA344037464CRB1c.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
1g.197427780G>CCA344037467CRB1c.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
1g.197427780G=CA1218066263CRB1c.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=
1g.197427780G>TCA344037470CRB1c.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
1g.197427781C>ACA344037478CRB1c.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
1g.197427781C>GCA344037480CRB1c.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
1g.197427781C>TCA344037482CRB1c.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
1g.197427782T>ACA422808775CRB1c.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
1g.197427782T>CCA422808777CRB1c.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
1g.197427782T>GCA422808778CRB1c.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
1g.197427783T>ACA344037484CRB1c.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
1g.197427783T>CCA344037486CRB1c.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
1g.197427783T>GCA344037489CRB1c.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
1g.197427784C>ACA344037500CRB1c.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
1g.197427784C=CA1218066266CRB1c.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=
1g.197427784C>GCA344037496CRB1c.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
1g.197427784C>TCA1312122CRB1c.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
1g.197427785T>ACA422808783CRB1c.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
1g.197427785T>CCA422808780CRB1c.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
1g.197427785T>GCA422808782CRB1c.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
1g.197427786A>CCA344037505CRB1c.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
1g.197427786A>GCA344037511CRB1c.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
1g.197427786A>TCA344037507CRB1c.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
1g.197427787C>ACA344037515CRB1c.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
1g.197427787C=CA1141893786CRB1c.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=
1g.197427787C>GCA344037518CRB1c.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
1g.197427787C>TCA247395CRB1c.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
1g.197427788G>ACA1312123CRB1c.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
1g.197427788G>CCA422808785CRB1c.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
1g.197427788G=CA1144049097CRB1c.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=
1g.197427788G>TCA422808786CRB1c.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
1g.197427789T>ACA344037527CRB1c.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
1g.197427789T>CCA344037529CRB1c.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
1g.197427789T>GCA344037531CRB1c.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
1g.197427790G>ACA344037535CRB1c.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
1g.197427790G>CCA344037539CRB1c.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
1g.197427790G>TCA344037543CRB1c.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
1g.197427791G>ACA344037547CRB1c.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
1g.197427791G>CCA344037550CRB1c.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
1g.197427791G=CA1218066276CRB1c.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=
1g.197427791G>TCA344037551CRB1c.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
1g.197427792A=CA1218066279CRB1c.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=
1g.197427792A>CCA344037556CRB1c.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
1g.197427792A>GCA344037562CRB1c.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
1g.197427792A>TCA344037558CRB1c.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
1g.197427793A>CCA344037566CRB1c.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
1g.197427793A>GCA344037575CRB1c.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
1g.197427793A>TCA344037579CRB1c.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
1g.197427794A>CCA344037582CRB1c.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
1g.197427794A>GCA422808790CRB1c.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
1g.197427794A>TCA344037585CRB1c.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
1g.197427795A>CCA344037588CRB1c.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
1g.197427795A>GCA344037591CRB1c.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
1g.197427795A>TCA344037595CRB1c.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
1g.197427796T>ACA344037599CRB1c.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
1g.197427796T>CCA344037603CRB1c.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
1g.197427796T>GCA344037605CRB1c.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
1g.197427797C>ACA422808797CRB1c.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
1g.197427797C=CA1218066281CRB1c.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=
1g.197427797C>GCA344037609CRB1c.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
1g.197427797C>TCA1312124CRB1c.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
1g.197427798G>ACA1312125CRB1c.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
1g.197427798G>CCA344037616CRB1c.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
1g.197427798G=CA1143578896CRB1c.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=
1g.197427798G>TCA344037620CRB1c.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
1g.197427799A=CA1218066285CRB1c.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=
1g.197427799A>CCA344037623CRB1c.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
1g.197427799A>GCA344037628CRB1c.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
1g.197427799A>TCA344037631CRB1c.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
1g.197427800A>CCA344037635CRB1c.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
1g.197427800A>GCA422808801CRB1c.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
1g.197427800A>TCA344037637CRB1c.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
1g.197427801A>CCA344037641CRB1c.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
1g.197427801A>GCA344037644CRB1c.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
1g.197427801A>TCA344037645CRB1c.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
1g.197427802A>CCA344037650CRB1c.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
1g.197427802A>GCA344037651CRB1c.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
1g.197427802A>TCA344037654CRB1c.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
1g.197427803G>ACA422808806CRB1c.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
1g.197427803G>CCA344037660CRB1c.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
1g.197427803G=CA1218066288CRB1c.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=
1g.197427803G>TCA344037662CRB1c.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
1g.197427804G>ACA1312126CRB1c.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
1g.197427804G>CCA344037668CRB1c.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
1g.197427804G=CA1140762944CRB1c.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=
1g.197427804G>TCA228009CRB1c.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
1g.197427805G>ACA344037676CRB1c.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
1g.197427805G>CCA344037678CRB1c.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
1g.197427805G=CA1218066291CRB1c.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=
1g.197427805G>TCA344037683CRB1c.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
1g.197427806A>CCA422808811CRB1c.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
1g.197427806A>GCA422808809CRB1c.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
1g.197427806A>TCA422808810CRB1c.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
1g.197427807G>ACA344037687CRB1c.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
1g.197427807G>CCA344037688CRB1c.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
1g.197427807G>TCA344037692CRB1c.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
1g.197427808A=CA1218066293CRB1c.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=
1g.197427808A>CCA1312127CRB1c.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
1g.197427808A>GCA344037697CRB1c.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
1g.197427808A>TCA344037700CRB1c.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
1g.197427809T>ACA344037708CRB1c.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
1g.197427809T>CCA422808816CRB1c.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
1g.197427809T>GCA344037705CRB1c.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
1g.197427810G>ACA344037711CRB1c.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
1g.197427810G>CCA344037714CRB1c.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
1g.197427810G>TCA344037717CRB1c.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
1g.197427811T>ACA344037721CRB1c.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
1g.197427811T>CCA344037723CRB1c.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
1g.197427811T>GCA344037725CRB1c.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
1g.197427811T=CA1218066297CRB1c.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=
1g.197427812C>ACA422808825CRB1c.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
1g.197427812C>GCA422808823CRB1c.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
1g.197427812C>TCA422808824CRB1c.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
1g.197427813A=CA1218066303CRB1c.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=
1g.197427813A>CCA344037730CRB1c.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
1g.197427813A>GCA344037729CRB1c.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
1g.197427813A>TCA1312128CRB1c.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
1g.197427814T>ACA344037732CRB1c.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
1g.197427814T>CCA344037733CRB1c.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
1g.197427814T>GCA344037735CRB1c.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
1g.197427815C>ACA422808828CRB1c.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
1g.197427815C>GCA344037738CRB1c.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
1g.197427815C>TCA422808830CRB1c.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
1g.197427816T>ACA344037743CRB1c.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
1g.197427816T>CCA344037746CRB1c.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
1g.197427816T>GCA344037748CRB1c.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
1g.197427816T=CA1218066305CRB1c.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=
1g.197427817A>CCA344037751CRB1c.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
1g.197427817A>GCA344037753CRB1c.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
1g.197427817A>TCA344037752CRB1c.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
1g.197427818C>ACA344037754CRB1c.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
1g.197427818C>GCA344037756CRB1c.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
1g.197427818C>TCA422808834CRB1c.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
1g.197427819A>CCA344037759CRB1c.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
1g.197427819A>GCA344037760CRB1c.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
1g.197427819A>TCA344037762CRB1c.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
1g.197427820T>ACA344037763CRB1c.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
1g.197427820T>CCA344037770CRB1c.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
1g.197427820T>GCA344037773CRB1c.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
1g.197427821T>ACA422808838CRB1c.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
1g.197427821T>CCA422808839CRB1c.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
1g.197427821T>GCA344037776CRB1c.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
1g.197427821T=CA1218066307CRB1c.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=
1g.197427822G>ACA344037779CRB1c.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
1g.197427822G>CCA344037792CRB1c.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
1g.197427822G=CA1218066309CRB1c.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=
1g.197427822G>TCA344037794CRB1c.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
1g.197427823G>ACA344037805CRB1c.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
1g.197427823G>CCA344037798CRB1c.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
1g.197427823G=CA1218066313CRB1c.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=
1g.197427823G>TCA344037803CRB1c.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
1g.197427824T>ACA422808841CRB1c.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
1g.197427824T>CCA422808842CRB1c.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
1g.197427824T>GCA422808843CRB1c.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
1g.197427825G>ACA344037808CRB1c.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
1g.197427825G>CCA344037811CRB1c.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
1g.197427825G>TCA344037826CRB1c.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
1g.197427826G>ACA344037829CRB1c.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
1g.197427826G>CCA344037832CRB1c.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
1g.197427826G=CA1218066318CRB1c.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=
1g.197427826G>TCA344037834CRB1c.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
1g.197427826_197427830delinsGCCTACA1218066319CRB1c.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
1g.197427827C>ACA422808844CRB1c.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
1g.197427827C>GCA422808846CRB1c.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
1g.197427827C>TCA422808847CRB1c.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
1g.197427830_197427833delCA1312129CRB1c.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
1g.197427828C>ACA344037846CRB1c.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
1g.197427828C>GCA344037843CRB1c.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
1g.197427828C>TCA422808851CRB1c.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
1g.197427829T>ACA344037848CRB1c.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
1g.197427829T>CCA344037851CRB1c.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
1g.197427829T>GCA344037854CRB1c.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
1g.197427830A=CA1218066322CRB1c.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=
1g.197427830A>CCA422808854CRB1c.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
1g.197427830A>GCA422808855CRB1c.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
1g.197427830A>TCA422808856CRB1c.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
1g.197427831C>ACA1312130CRB1c.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
1g.197427831C=CA1141533191CRB1c.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=
1g.197427831C>GCA344037858CRB1c.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
1g.197427831C>TCA344037860CRB1c.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
1g.197427832C>ACA344037864CRB1c.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
1g.197427832C>GCA344037869CRB1c.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
1g.197427832C>TCA344037867CRB1c.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
1g.197427833T>ACA422808861CRB1c.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
1g.197427833T>CCA422808863CRB1c.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
1g.197427833T>GCA422808862CRB1c.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
1g.197427834G>ACA344037870CRB1c.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
1g.197427834G>CCA228011CRB1c.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
1g.197427834G=CA1140762945CRB1c.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=
1g.197427834G>TCA344037873CRB1c.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
1g.197427835A>CCA344037874CRB1c.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
1g.197427835A>GCA344037876CRB1c.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
1g.197427835A>TCA344037879CRB1c.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
1g.197427836C>ACA344037895CRB1c.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
1g.197427836C=CA1218066329CRB1c.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=
1g.197427836C>GCA344037897CRB1c.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
1g.197427836C>TCA422808864CRB1c.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
1g.197427837A>CCA344037901CRB1c.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
1g.197427837A>GCA344037904CRB1c.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
1g.197427837A>TCA344037906CRB1c.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
1g.197427838A>CCA344037907CRB1c.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
1g.197427838A>GCA344037909CRB1c.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
1g.197427838A>TCA344037908CRB1c.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
1g.197427839G>ACA422808870CRB1c.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
1g.197427839G>CCA344037911CRB1c.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
1g.197427839G>TCA344037913CRB1c.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
1g.197427840C>ACA344037915CRB1c.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
1g.197427840C=CA1218066331CRB1c.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=
1g.197427840C>GCA344037924CRB1c.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
1g.197427840C>TCA344037928CRB1c.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
1g.197427841A>CCA344037930CRB1c.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
1g.197427841A>GCA344037933CRB1c.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
1g.197427841A>TCA344037936CRB1c.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
1g.197427842A>CCA344037937CRB1c.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
1g.197427842A>GCA422808872CRB1c.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
1g.197427842A>TCA344037939CRB1c.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
1g.197427843G>ACA344037948CRB1c.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
1g.197427843G>CCA344037950CRB1c.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
1g.197427843G>TCA344037957CRB1c.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
1g.197427844A>CCA344037963CRB1c.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
1g.197427844A>GCA344037970CRB1c.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
1g.197427844A>TCA344037973CRB1c.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
1g.197427845G>ACA422808876CRB1c.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
1g.197427845G>CCA344037976CRB1c.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
1g.197427845G>TCA344037978CRB1c.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
1g.197427846A=CA1218066347CRB1c.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=
1g.197427846A>CCA344037981CRB1c.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
1g.197427846A>GCA344037990CRB1c.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
1g.197427846A>TCA35901004CRB1c.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
1g.197427847C>ACA344038001CRB1c.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
1g.197427847C>GCA344038006CRB1c.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
1g.197427847C>TCA344038011CRB1c.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
1g.197427848T>ACA422808881CRB1c.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
1g.197427848T>CCA422808882CRB1c.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
1g.197427848T>GCA422808883CRB1c.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
1g.197427848T=CA1218066350CRB1c.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=
1g.197427849G>ACA344038014CRB1c.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
1g.197427849G>CCA344038016CRB1c.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
1g.197427849G>TCA344038019CRB1c.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
1g.197427850A>CCA344038022CRB1c.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
1g.197427850A>GCA344038024CRB1c.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
1g.197427850A>TCA344038027CRB1c.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
1g.197427851A>CCA344038030CRB1c.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
1g.197427851A>GCA422808887CRB1c.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
1g.197427851A>TCA344038034CRB1c.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
1g.197427852_197427923delCA2580061831CRB1c.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
1g.197427852C>ACA344038035CRB1c.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
1g.197427852C=CA1218066351CRB1c.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=
1g.197427852C>GCA344038036CRB1c.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
1g.197427852C>TCA1312131CRB1c.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
1g.197427853T>ACA344038038CRB1c.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
1g.197427853T>CCA344038040CRB1c.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
1g.197427853T>GCA344038047CRB1c.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
1g.197427854T>ACA422808890CRB1c.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
1g.197427854T>CCA422808888CRB1c.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
1g.197427854T>GCA422808889CRB1c.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
1g.197427854T=CA1218066354CRB1c.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=
1g.197427855A>CCA344038051CRB1c.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
1g.197427855A>GCA344038054CRB1c.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
1g.197427855A>TCA344038055CRB1c.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
1g.197427855_197427862delinsAATGGTGGCA1218066359CRB1c.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
1g.197427856A>CCA344038059CRB1c.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
1g.197427856A>GCA344038064CRB1c.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
1g.197427856A>TCA344038065CRB1c.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
1g.197427856_197427864delinsATGGTGGATCA1148228981CRB1c.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
1g.197427858_197427864delCA1312132CRB1c.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
1g.197427857T>ACA344038075CRB1c.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
1g.197427857T>CCA422808895CRB1c.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
1g.197427857T>GCA344038071CRB1c.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
1g.197427857T=CA1218066368CRB1c.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=
1g.197427858G>ACA344038077CRB1c.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
1g.197427858G>CCA344038079CRB1c.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
1g.197427858G=CA1218066370CRB1c.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=
1g.197427858G>TCA344038081CRB1c.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
1g.197427858_197427870delCA2586964524CRB1c.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
1g.197427859G>ACA35901043CRB1c.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
1g.197427859G>CCA344038091CRB1c.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
1g.197427859G=CA1218066372CRB1c.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=
1g.197427859G>TCA344038092CRB1c.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
1g.197427860T>ACA422808898CRB1c.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
1g.197427860T>CCA1312133CRB1c.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
1g.197427860T>GCA422808899CRB1c.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
1g.197427860T=CA1218066375CRB1c.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=
1g.197427861_197427867delCA2586964525CRB1c.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
1g.197427861G>ACA1312134CRB1c.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
1g.197427861G>CCA344038102CRB1c.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
1g.197427861G=CA1145144645CRB1c.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=
1g.197427861G>TCA344038108CRB1c.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
1g.197427862G>ACA1312135CRB1c.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
1g.197427862G>CCA344038116CRB1c.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
1g.197427862G=CA1218066378CRB1c.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=
1g.197427862G>TCA344038118CRB1c.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
1g.197427863A=CA1141655576CRB1c.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=
1g.197427863A>CCA422808900CRB1c.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
1g.197427863A>GCA422808901CRB1c.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
1g.197427863A>TCA1312136CRB1c.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
1g.197427864T>ACA344038125CRB1c.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
1g.197427864T>CCA344038124CRB1c.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
1g.197427864T>GCA344038126CRB1c.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
1g.197427865T>ACA344038127CRB1c.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
1g.197427865T>CCA35901083CRB1c.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
1g.197427865T>GCA344038129CRB1c.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
1g.197427865T=CA1218066384CRB1c.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=
1g.197427866_197427867delCA2573131446CRB1c.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
1g.197427866C>ACA344038131CRB1c.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
1g.197427866C=CA1218066387CRB1c.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=
1g.197427866C>GCA344038133CRB1c.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
1g.197427866C>TCA422808905CRB1c.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
1g.197427867T>ACA344038141CRB1c.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
1g.197427867T>CCA344038139CRB1c.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
1g.197427867T>GCA344038136CRB1c.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
1g.197427868delCA2740090300CRB1c.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
1g.197427868T>ACA344038146CRB1c.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
1g.197427868T>CCA344038148CRB1c.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
1g.197427868T>GCA344038153CRB1c.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
1g.197427869C>ACA344038162CRB1c.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
1g.197427869C=CA1218066390CRB1c.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=
1g.197427869C>GCA344038163CRB1c.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
1g.197427869C>TCA1312137CRB1c.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

Number of alleles fetched