Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.48381223G>A | CA609929333 | RB1 | c.1499-24G>A (n.1499-24G>A) c.1238-24G>A (n.1238-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381223G>C | CA2727865410 | RB1 | c.1499-24G>C (n.1499-24G>C) c.1238-24G>C (n.1238-24G>C) | dbSNP |
13 | g.48381223G= | CA2089972179 | RB1 | c.1499-24G= (n.1499-24G=) c.1238-24G= (n.1238-24G=) | |
13 | g.48381223G>T | CA2575413540 | RB1 | c.1499-24G>T (n.1499-24G>T) c.1238-24G>T (n.1238-24G>T) | dbSNP gnomAD v4 |
13 | g.48381224T>A | CA2728034344 | RB1 | c.1499-23T>A (n.1499-23T>A) c.1238-23T>A (n.1238-23T>A) | dbSNP |
13 | g.48381226_48381229del | CA2622981513 | RB1 | c.1499-21_1499-18del (n.1499-21_1499-18del) c.1238-21_1238-18del (n.1238-21_1238-18del) | gnomAD v4 |
13 | g.48381225T>A | CA2728034346 | RB1 | c.1499-22T>A (n.1499-22T>A) c.1238-22T>A (n.1238-22T>A) | dbSNP |
13 | g.48381226_48381228del | CA2697551853 | RB1 | c.1499-21_1499-19del (n.1499-21_1499-19del) c.1238-21_1238-19del (n.1238-21_1238-19del) | ClinVar |
13 | g.48381227C>A | CA2622981514 | RB1 | c.1499-20C>A (n.1499-20C>A) c.1238-20C>A (n.1238-20C>A) | gnomAD v4 |
13 | g.48381227_48381228delinsCT | CA2089972180 | RB1 | c.1499-20_1499-19delinsCT (n.1499-20_1499-19delinsCT) c.1238-20_1238-19delinsCT (n.1238-20_1238-19delinsCT) | |
13 | g.48381227_48381228insA | CA2622981521 | RB1 | c.1499-20_1499-19insA (n.1499-20_1499-19insA) c.1238-20_1238-19insA (n.1238-20_1238-19insA) | gnomAD v4 |
13 | g.48381228T>A | CA609929335 | RB1 | c.1499-19T>A (n.1499-19T>A) c.1238-19T>A (n.1238-19T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381228T>C | CA2573149613 | RB1 | c.1499-19T>C (n.1499-19T>C) c.1238-19T>C (n.1238-19T>C) | ClinVar dbSNP gnomAD v4 |
13 | g.48381228T= | CA2089972194 | RB1 | c.1499-19T= (n.1499-19T=) c.1238-19T= (n.1238-19T=) | |
13 | g.48381237_48381238insTTTTTTTTTTTTT | CA2622981518 | RB1 | c.1499-10_1499-9insTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTT) c.1238-10_1238-9insTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTT) | gnomAD v4 |
13 | g.48381237_48381238insTTTTTTTTTTTTTTT | CA2622981522 | RB1 | c.1499-10_1499-9insTTTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTTTT) c.1238-10_1238-9insTTTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTTTT) | gnomAD v4 |
13 | g.48381237_48381238insTTTTTTTTTTTTTTTTTTTTT | CA919267022 | RB1 | c.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTT) c.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTT) | dbSNP |
13 | g.48381237_48381238insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2799118562 | RB1 | c.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
13 | g.48381237_48381238insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2622981517 | RB1 | c.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1499-10_1499-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1238-10_1238-9insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
13 | g.48381237dup | CA6978898 | RB1 | c.1499-10dup (n.1499-10dup) c.1238-10dup (n.1238-10dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381236_48381237dup | CA2530626374 | RB1 | c.1499-11_1499-10dup (n.1499-11_1499-10dup) c.1238-11_1238-10dup (n.1238-11_1238-10dup) | gnomAD v4 |
13 | g.48381235_48381237dup | CA2622981516 | RB1 | c.1499-12_1499-10dup (n.1499-12_1499-10dup) c.1238-12_1238-10dup (n.1238-12_1238-10dup) | gnomAD v4 |
13 | g.48381232_48381237dup | CA2622981520 | RB1 | c.1499-15_1499-10dup (n.1499-15_1499-10dup) c.1238-15_1238-10dup (n.1238-15_1238-10dup) | gnomAD v4 |
13 | g.48381231_48381237dup | CA2799118563 | RB1 | c.1499-16_1499-10dup (n.1499-16_1499-10dup) c.1238-16_1238-10dup (n.1238-16_1238-10dup) | |
13 | g.48381228_48381237dup | CA2622981519 | RB1 | c.1499-19_1499-10dup (n.1499-19_1499-10dup) c.1238-19_1238-10dup (n.1238-19_1238-10dup) | gnomAD v4 |
13 | g.48381237del | CA029009 | RB1 | c.1499-10del (n.1499-10del) c.1238-10del (n.1238-10del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
13 | g.48381236_48381237del | CA609929334 | RB1 | c.1499-11_1499-10del (n.1499-11_1499-10del) c.1238-11_1238-10del (n.1238-11_1238-10del) | ClinVar gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381235_48381237del | CA2622981515 | RB1 | c.1499-12_1499-10del (n.1499-12_1499-10del) c.1238-12_1238-10del (n.1238-12_1238-10del) | gnomAD v4 |
13 | g.48381229T>A | CA2580087601 | RB1 | c.1499-18T>A (n.1499-18T>A) c.1238-18T>A (n.1238-18T>A) | ClinVar |
13 | g.48381229T>C | CA2727855523 | RB1 | c.1499-18T>C (n.1499-18T>C) c.1238-18T>C (n.1238-18T>C) | dbSNP |
13 | g.48381229T>G | CA698675680 | RB1 | c.1499-18T>G (n.1499-18T>G) c.1238-18T>G (n.1238-18T>G) | dbSNP |
13 | g.48381229T= | CA2089972198 | RB1 | c.1499-18T= (n.1499-18T=) c.1238-18T= (n.1238-18T=) | |
13 | g.48381230T>C | CA955795708 | RB1 | c.1499-17T>C (n.1499-17T>C) c.1238-17T>C (n.1238-17T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48381230T= | CA2089972201 | RB1 | c.1499-17T= (n.1499-17T=) c.1238-17T= (n.1238-17T=) | |
13 | g.48381232T>C | CA2622981523 | RB1 | c.1499-15T>C (n.1499-15T>C) c.1238-15T>C (n.1238-15T>C) | gnomAD v4 |
13 | g.48381234T>G | CA2622981524 | RB1 | c.1499-13T>G (n.1499-13T>G) c.1238-13T>G (n.1238-13T>G) | gnomAD v4 |
13 | g.48381235T>C | CA2728034347 | RB1 | c.1499-12T>C (n.1499-12T>C) c.1238-12T>C (n.1238-12T>C) | dbSNP |
13 | g.48381236T>C | CA2622981525 | RB1 | c.1499-11T>C (n.1499-11T>C) c.1238-11T>C (n.1238-11T>C) | gnomAD v4 |
13 | g.48381237T>A | CA2727841473 | RB1 | c.1499-10T>A (n.1499-10T>A) c.1238-10T>A (n.1238-10T>A) | dbSNP |
13 | g.48381237T>C | CA028997 | RB1 | c.1499-10T>C (n.1499-10T>C) c.1238-10T>C (n.1238-10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48381237T= | CA2089972204 | RB1 | c.1499-10T= (n.1499-10T=) c.1238-10T= (n.1238-10T=) | |
13 | g.48381237_48381238delinsTC | CA2089972207 | RB1 | c.1499-10_1499-9delinsTC (n.1499-10_1499-9delinsTC) c.1238-10_1238-9delinsTC (n.1238-10_1238-9delinsTC) | |
13 | g.48381237_48381239delinsTCA | CA2089972206 | RB1 | c.1499-10_1499-8delinsTCA (n.1499-10_1499-8delinsTCA) c.1238-10_1238-8delinsTCA (n.1238-10_1238-8delinsTCA) | |
13 | g.48381238del | CA609929337 | RB1 | c.1499-9del (n.1499-9del) c.1238-9del (n.1238-9del) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381238C>A | CA249281900 | RB1 | c.1499-9C>A (n.1499-9C>A) c.1238-9C>A (n.1238-9C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381238C= | CA2089972213 | RB1 | c.1499-9C= (n.1499-9C=) c.1238-9C= (n.1238-9C=) | |
13 | g.48381238C>G | CA2622981526 | RB1 | c.1499-9C>G (n.1499-9C>G) c.1238-9C>G (n.1238-9C>G) | dbSNP gnomAD v4 |
13 | g.48381238C>T | CA609929338 | RB1 | c.1499-9C>T (n.1499-9C>T) c.1238-9C>T (n.1238-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381238_48381239del | CA609929336 | RB1 | c.1499-9_1499-8del (n.1499-9_1499-8del) c.1238-9_1238-8del (n.1238-9_1238-8del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381239A= | CA2089972219 | RB1 | c.1499-8A= (n.1499-8A=) c.1238-8A= (n.1238-8A=) | |
13 | g.48381239A>G | CA955795722 | RB1 | c.1499-8A>G (n.1499-8A>G) c.1238-8A>G (n.1238-8A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48381239A>T | CA609929339 | RB1 | c.1499-8A>T (n.1499-8A>T) c.1238-8A>T (n.1238-8A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381240T>C | CA609929342 | RB1 | c.1499-7T>C (n.1499-7T>C) c.1238-7T>C (n.1238-7T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381240T= | CA2089972234 | RB1 | c.1499-7T= (n.1499-7T=) c.1238-7T= (n.1238-7T=) | |
13 | g.48381244_48381245insTTTTTT | CA609929341 | RB1 | c.1499-3_1499-2insTTTTTT (n.1499-3_1499-2insTTTTTT) c.1238-3_1238-2insTTTTTT (n.1238-3_1238-2insTTTTTT) | dbSNP gnomAD v2 |
13 | g.48381244_48381245insTTTTTTTTT | CA609929340 | RB1 | c.1499-3_1499-2insTTTTTTTTT (n.1499-3_1499-2insTTTTTTTTT) c.1238-3_1238-2insTTTTTTTTT (n.1238-3_1238-2insTTTTTTTTT) | dbSNP gnomAD v2 |
13 | g.48381244_48381245insTTTTTTTTTTTTTTTT | CA609929347 | RB1 | c.1499-3_1499-2insTTTTTTTTTTTTTTTT (n.1499-3_1499-2insTTTTTTTTTTTTTTTT) c.1238-3_1238-2insTTTTTTTTTTTTTTTT (n.1238-3_1238-2insTTTTTTTTTTTTTTTT) | dbSNP gnomAD v2 |
13 | g.48381244_48381245insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA609929345 | RB1 | c.1499-3_1499-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1499-3_1499-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.1238-3_1238-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1238-3_1238-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP gnomAD v2 |
13 | g.48381242_48381244dup | CA609929344 | RB1 | c.1499-5_1499-3dup (n.1499-5_1499-3dup) c.1238-5_1238-3dup (n.1238-5_1238-3dup) | dbSNP gnomAD v2 |
13 | g.48381240_48381244dup | CA609929346 | RB1 | c.1499-7_1499-3dup (n.1499-7_1499-3dup) c.1238-7_1238-3dup (n.1238-7_1238-3dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381241T>A | CA609929348 | RB1 | c.1499-6T>A (n.1499-6T>A) c.1238-6T>A (n.1238-6T>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381241T>C | CA2739277608 | RB1 | c.1499-6T>C (n.1499-6T>C) c.1238-6T>C (n.1238-6T>C) | ClinVar |
13 | g.48381241T= | CA2089972238 | RB1 | c.1499-6T= (n.1499-6T=) c.1238-6T= (n.1238-6T=) | |
13 | g.48381243T>C | CA2622981527 | RB1 | c.1499-4T>C (n.1499-4T>C) c.1238-4T>C (n.1238-4T>C) | gnomAD v4 |
13 | g.48381244_48381247del | CA2831039870 | RB1 | c.1499-3_1499del c.1238-3_1238del | |
13 | g.48381244_48381245insTTTTTA | CA2799118564 | RB1 | c.1499-3_1499-2insTTTTTA (n.1499-3_1499-2insTTTTTA) c.1238-3_1238-2insTTTTTA (n.1238-3_1238-2insTTTTTA) | |
13 | g.48381245A= | CA2089972247 | RB1 | c.1499-2A= (n.1499-2A=) c.1238-2A= (n.1238-2A=) | |
13 | g.48381245A>C | CA388163245 | RB1 | c.1499-2A>C (n.1499-2A>C) c.1238-2A>C (n.1238-2A>C) | ClinVar dbSNP COSMIC |
13 | g.48381245A>G | CA388163247 | RB1 | c.1499-2A>G (n.1499-2A>G) c.1238-2A>G (n.1238-2A>G) | COSMIC COSMIC |
13 | g.48381245A>T | CA388163249 | RB1 | c.1499-2A>T (n.1499-2A>T) c.1238-2A>T (n.1238-2A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381245_48381246del | CA2622981528 | RB1 | c.1499-2_1499-1del (n.1499-2_1499-1del) c.1238-2_1238-1del (n.1238-2_1238-1del) | gnomAD v4 |
13 | g.48381245_48381250del | CA2622981529 | RB1 | c.1499-2_1502del c.1238-2_1241del | gnomAD v4 |
13 | g.48381247_48381250del | CA955795738 | RB1 | c.1499_1502del c.1238_1241del | gnomAD v4 |
13 | g.48381245_48381254del | CA2799118565 | RB1 | c.1499-2_1506del c.1238-2_1245del | |
13 | g.48381246G>A | CA388163251 | RB1 | c.1499-1G>A (n.1499-1G>A) c.1238-1G>A (n.1238-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381246G>C | CA388163253 | RB1 | c.1499-1G>C (n.1499-1G>C) c.1238-1G>C (n.1238-1G>C) | dbSNP COSMIC COSMIC |
13 | g.48381246G= | CA2089972256 | RB1 | c.1499-1G= (n.1499-1G=) c.1238-1G= (n.1238-1G=) | |
13 | g.48381246G>T | CA388163255 | RB1 | c.1499-1G>T (n.1499-1G>T) c.1238-1G>T (n.1238-1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.48381247del | CA2831039871 | RB1 | c.1499del c.1238del | |
13 | g.48381246_48381259delinsGGAAGTACATCTCA | CA2089972255 | RB1 | c.1499-1_1511delinsGGAAGTACATCTCA c.1238-1_1250delinsGGAAGTACATCTCA | |
13 | g.48381247G>A | CA388163257 | RB1 | c.1499G>A (p.Arg500Lys) c.1238G>A (p.Arg413Lys) | dbSNP |
13 | g.48381247G>C | CA388163258 | RB1 | c.1499G>C (p.Arg500Thr) c.1238G>C (p.Arg413Thr) | dbSNP |
13 | g.48381247G= | CA2089972265 | RB1 | c.1499G= (p.Arg500=) c.1238G= (p.Arg413=) | |
13 | g.48381247G>T | CA388163256 | RB1 | c.1499G>T (p.Arg500Ile) c.1238G>T (p.Arg413Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48381250_48381262del | CA645369594 | RB1 | c.1502_1514del (p.Ser501IlefsTer14) c.1241_1253del (p.Ser414IlefsTer14) | ClinVar dbSNP |
13 | g.48381248_48381444del | CA645578673 | RB1 | c.1500_1695+1del c.1239_1434+1del | COSMIC |
13 | g.48381248A= | CA2089972269 | RB1 | c.1500A= (p.Arg500=) c.1239A= (p.Arg413=) | |
13 | g.48381248A>C | CA388163261 | RB1 | c.1500A>C (p.Arg500Ser) c.1239A>C (p.Arg413Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.48381248A>G | CA483559382 | RB1 | c.1500A>G (p.Arg500=) c.1239A>G (p.Arg413=) | |
13 | g.48381248A>T | CA388163262 | RB1 | c.1500A>T (p.Arg500Ser) c.1239A>T (p.Arg413Ser) | dbSNP |
13 | g.48381249del | CA2695218490 | RB1 | c.1501del (p.Ser501ValfsTer18) c.1240del (p.Ser414ValfsTer18) | |
13 | g.48381249A>C | CA388163264 | RB1 | c.1501A>C (p.Ser501Arg) c.1240A>C (p.Ser414Arg) | |
13 | g.48381249A>G | CA388163265 | RB1 | c.1501A>G (p.Ser501Gly) c.1240A>G (p.Ser414Gly) | |
13 | g.48381249A>T | CA388163266 | RB1 | c.1501A>T (p.Ser501Cys) c.1240A>T (p.Ser414Cys) | dbSNP |
13 | g.48381250G>A | CA388163271 | RB1 | c.1502G>A (p.Ser501Asn) c.1G>A c.1241G>A (p.Ser414Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.48381250G>C | CA388163268 | RB1 | c.1502G>C (p.Ser501Thr) c.1G>C c.1241G>C (p.Ser414Thr) | dbSNP |
13 | g.48381250G>T | CA388163270 | RB1 | c.1502G>T (p.Ser501Ile) c.1G>T c.1241G>T (p.Ser414Ile) | dbSNP gnomAD v4 |
13 | g.48381251T>A | CA388163274 | RB1 | c.1503T>A (p.Ser501Arg) c.2T>A c.1242T>A (p.Ser414Arg) | dbSNP |
13 | g.48381251T>C | CA483559386 | RB1 | c.1503T>C (p.Ser501=) c.2T>C c.1242T>C (p.Ser414=) | ClinVar dbSNP gnomAD v4 |
13 | g.48381251T>G | CA388163276 | RB1 | c.1503T>G (p.Ser501Arg) c.2T>G c.1242T>G (p.Ser414Arg) | dbSNP |
13 | g.48381252A>C | CA388163278 | RB1 | c.1504A>C (p.Thr502Pro) c.3A>C c.1243A>C (p.Thr415Pro) | dbSNP |
13 | g.48381252A>G | CA388163280 | RB1 | c.1504A>G (p.Thr502Ala) c.3A>G c.1243A>G (p.Thr415Ala) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48381252A>T | CA388163282 | RB1 | c.1504A>T (p.Thr502Ser) c.3A>T c.1243A>T (p.Thr415Ser) | dbSNP |
13 | g.48381252_48381258delinsTCTCAAGAATCTCAAGAATCA | CA645578674 | RB1 | c.1504_1510delinsTCTCAAGAATCTCAAGAATCA (p.Thr502SerfsTer22) c.3_9delinsTCTCAAGAATCTCAAGAATCA c.1243_1249delinsTCTCAAGAATCTCAAGAATCA (p.Thr415SerfsTer22) | COSMIC |
13 | g.48381253del | CA645578675 | RB1 | c.1505del (p.Thr502AsnfsTer17) c.4del c.1244del (p.Thr415AsnfsTer17) | COSMIC COSMIC |
13 | g.48381253C>A | CA388163283 | RB1 | c.1505C>A (p.Thr502Lys) c.4C>A c.1244C>A (p.Thr415Lys) | gnomAD v4 |
13 | g.48381253C= | CA2089972277 | RB1 | c.1505C= (p.Thr502=) c.4C= c.1244C= (p.Thr415=) | |
13 | g.48381253C>G | CA388163284 | RB1 | c.1505C>G (p.Thr502Arg) c.4C>G c.1244C>G (p.Thr415Arg) | dbSNP |
13 | g.48381253C>T | CA029053 | RB1 | c.1505C>T (p.Thr502Ile) c.4C>T c.1244C>T (p.Thr415Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381254A= | CA2089972283 | RB1 | c.1506A= (p.Thr502=) c.5A= c.1245A= (p.Thr415=) | |
13 | g.48381254A>C | CA483559388 | RB1 | c.1506A>C (p.Thr502=) c.5A>C c.1245A>C (p.Thr415=) | |
13 | g.48381254A>G | CA16614051 | RB1 | c.1506A>G (p.Thr502=) c.5A>G c.1245A>G (p.Thr415=) | ClinVar dbSNP gnomAD v4 |
13 | g.48381254A>T | CA483559389 | RB1 | c.1506A>T (p.Thr502=) c.5A>T c.1245A>T (p.Thr415=) | dbSNP |
13 | g.48381255T>A | CA388163287 | RB1 | c.1507T>A (p.Ser503Thr) c.6T>A c.1246T>A (p.Ser416Thr) | dbSNP |
13 | g.48381255T>C | CA388163288 | RB1 | c.1507T>C (p.Ser503Pro) c.6T>C c.1246T>C (p.Ser416Pro) | |
13 | g.48381255T>G | CA388163291 | RB1 | c.1507T>G (p.Ser503Ala) c.6T>G c.1246T>G (p.Ser416Ala) | |
13 | g.48381255_48381256insTTTTTTTTTT | CA2799118566 | RB1 | c.1507_1508insTTTTTTTTTT (p.Ser503PhefsTer8) c.6_7insTTTTTTTTTT c.1246_1247insTTTTTTTTTT (p.Ser416PhefsTer8) | |
13 | g.48381256del | CA2728035071 | RB1 | c.1508del (p.Ser503PhefsTer16) c.7del c.1247del (p.Ser416PhefsTer16) | dbSNP |
13 | g.48381256C>A | CA388163293 | RB1 | c.1508C>A (p.Ser503Tyr) c.7C>A c.1247C>A (p.Ser416Tyr) | dbSNP |
13 | g.48381256C>G | CA388163295 | RB1 | c.1508C>G (p.Ser503Cys) c.7C>G c.1247C>G (p.Ser416Cys) | dbSNP |
13 | g.48381256C>T | CA388163297 | RB1 | c.1508C>T (p.Ser503Phe) c.7C>T c.1247C>T (p.Ser416Phe) | dbSNP |
13 | g.48381257T>A | CA483559391 | RB1 | c.1509T>A (p.Ser503=) c.8T>A c.1248T>A (p.Ser416=) | dbSNP |
13 | g.48381257T>C | CA483559392 | RB1 | c.1509T>C (p.Ser503=) c.8T>C c.1248T>C (p.Ser416=) | ClinVar dbSNP |
13 | g.48381257T>G | CA483559393 | RB1 | c.1509T>G (p.Ser503=) c.8T>G c.1248T>G (p.Ser416=) | |
13 | g.48381258del | CA2499222452 | RB1 | c.1510del (p.Gln504ArgfsTer15) c.9del c.1249del (p.Gln417ArgfsTer15) | ClinVar dbSNP |
13 | g.48381258C>A | CA388163299 | RB1 | c.1510C>A (p.Gln504Lys) c.9C>A c.1249C>A (p.Gln417Lys) | dbSNP gnomAD v4 |
13 | g.48381258C= | CA2089972289 | RB1 | c.1510C= (p.Gln504=) c.9C= c.1249C= (p.Gln417=) | |
13 | g.48381258C>G | CA388163301 | RB1 | c.1510C>G (p.Gln504Glu) c.9C>G c.1249C>G (p.Gln417Glu) | dbSNP |
13 | g.48381258C>T | CA10605288 | RB1 | c.1510C>T (p.Gln504Ter) c.9C>T c.1249C>T (p.Gln417Ter) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48381258_48381260delinsCAG | CA2089972293 | RB1 | c.1510_1512delinsCAG (p.Gln504=) c.9_11delinsCAG c.1249_1251delinsCAG (p.Gln417=) | |
13 | g.48381258_48381262del | CA2799118567 | RB1 | c.1510_1514del (p.Gln504SerfsTer2) c.9_13del c.1249_1253del (p.Gln417SerfsTer2) | |
13 | g.48381259A= | CA2089972296 | RB1 | c.1511A= (p.Gln504=) c.10A= c.1250A= (p.Gln417=) | |
13 | g.48381259A>C | CA388163303 | RB1 | c.1511A>C (p.Gln504Pro) c.10A>C c.1250A>C (p.Gln417Pro) | |
13 | g.48381259A>G | CA388163304 | RB1 | c.1511A>G (p.Gln504Arg) c.10A>G c.1250A>G (p.Gln417Arg) | |
13 | g.48381259A>T | CA249281910 | RB1 | c.1511A>T (p.Gln504Leu) c.10A>T c.1250A>T (p.Gln417Leu) | dbSNP |
13 | g.48381260_48381261del | CA915948554 | RB1 | c.1512_1513del (p.Asn505SerfsTer2) c.11_12del c.1251_1252del (p.Asn418SerfsTer2) | ClinVar dbSNP |
13 | g.48381260G>A | CA249281914 | RB1 | c.1512G>A (p.Gln504=) c.11G>A c.1251G>A (p.Gln417=) | dbSNP |
13 | g.48381260G>C | CA388163308 | RB1 | c.1512G>C (p.Gln504His) c.11G>C c.1251G>C (p.Gln417His) | dbSNP |
13 | g.48381260G= | CA2089972299 | RB1 | c.1512G= (p.Gln504=) c.11G= c.1251G= (p.Gln417=) | |
13 | g.48381260G>T | CA388163307 | RB1 | c.1512G>T (p.Gln504His) c.11G>T c.1251G>T (p.Gln417His) | dbSNP gnomAD v4 |
13 | g.48381261A>C | CA388163312 | RB1 | c.1513A>C (p.Asn505His) c.12A>C c.1252A>C (p.Asn418His) | |
13 | g.48381261A>G | CA388163311 | RB1 | c.1513A>G (p.Asn505Asp) c.12A>G c.1252A>G (p.Asn418Asp) | |
13 | g.48381261A>T | CA388163313 | RB1 | c.1513A>T (p.Asn505Tyr) c.12A>T c.1252A>T (p.Asn418Tyr) | dbSNP |
13 | g.48381262A= | CA2089972305 | RB1 | c.1514A= (p.Asn505=) c.13A= c.1253A= (p.Asn418=) | |
13 | g.48381262A>C | CA388163314 | RB1 | c.1514A>C (p.Asn505Thr) c.13A>C c.1253A>C (p.Asn418Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.48381262A>G | CA388163316 | RB1 | c.1514A>G (p.Asn505Ser) c.13A>G c.1253A>G (p.Asn418Ser) | |
13 | g.48381262A>T | CA388163318 | RB1 | c.1514A>T (p.Asn505Ile) c.13A>T c.1253A>T (p.Asn418Ile) | dbSNP |
13 | g.48381263T>A | CA388163320 | RB1 | c.1515T>A (p.Asn505Lys) c.14T>A c.1254T>A (p.Asn418Lys) | dbSNP gnomAD v4 |
13 | g.48381263T>C | CA483559395 | RB1 | c.1515T>C (p.Asn505=) c.14T>C c.1254T>C (p.Asn418=) | |
13 | g.48381263T>G | CA388163322 | RB1 | c.1515T>G (p.Asn505Lys) c.14T>G c.1254T>G (p.Asn418Lys) | |
13 | g.48381264C>A | CA388163324 | RB1 | c.1516C>A (p.Leu506Ile) c.15C>A c.1255C>A (p.Leu419Ile) | |
13 | g.48381264C>G | CA388163326 | RB1 | c.1516C>G (p.Leu506Val) c.15C>G c.1255C>G (p.Leu419Val) | |
13 | g.48381264C>T | CA388163327 | RB1 | c.1516C>T (p.Leu506Phe) c.15C>T c.1255C>T (p.Leu419Phe) | |
13 | g.48381265T>A | CA388163328 | RB1 | c.1517T>A (p.Leu506His) c.16T>A c.1256T>A (p.Leu419His) | |
13 | g.48381265T>C | CA388163329 | RB1 | c.1517T>C (p.Leu506Pro) c.16T>C c.1256T>C (p.Leu419Pro) | ClinVar gnomAD v4 |
13 | g.48381265T>G | CA388163330 | RB1 | c.1517T>G (p.Leu506Arg) c.16T>G c.1256T>G (p.Leu419Arg) | |
13 | g.48381266T>A | CA483559397 | RB1 | c.1518T>A (p.Leu506=) c.17T>A c.1257T>A (p.Leu419=) | dbSNP gnomAD v4 |
13 | g.48381266T>C | CA483559398 | RB1 | c.1518T>C (p.Leu506=) c.17T>C c.1257T>C (p.Leu419=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381266T>G | CA483559399 | RB1 | c.1518T>G (p.Leu506=) c.17T>G c.1257T>G (p.Leu419=) | ClinVar |
13 | g.48381266T= | CA2089972308 | RB1 | c.1518T= (p.Leu506=) c.17T= c.1257T= (p.Leu419=) | |
13 | g.48381267G>A | CA388163336 | RB1 | c.1519G>A (p.Asp507Asn) c.18G>A c.1258G>A (p.Asp420Asn) | ClinVar dbSNP |
13 | g.48381267G>C | CA388163333 | RB1 | c.1519G>C (p.Asp507His) c.18G>C c.1258G>C (p.Asp420His) | ClinVar dbSNP gnomAD v4 |
13 | g.48381267G>T | CA388163334 | RB1 | c.1519G>T (p.Asp507Tyr) c.18G>T c.1258G>T (p.Asp420Tyr) | dbSNP gnomAD v4 |
13 | g.48381267_48381271dup | CA2499222453 | RB1 | c.1519_1523dup (p.Gly509IlefsTer12) c.18_22dup c.1258_1262dup (p.Gly422IlefsTer12) | ClinVar dbSNP |
13 | g.48381268A>C | CA388163338 | RB1 | c.1520A>C (p.Asp507Ala) c.19A>C c.1259A>C (p.Asp420Ala) | dbSNP |
13 | g.48381268A>G | CA388163340 | RB1 | c.1520A>G (p.Asp507Gly) c.19A>G c.1259A>G (p.Asp420Gly) | dbSNP |
13 | g.48381268A>T | CA388163342 | RB1 | c.1520A>T (p.Asp507Val) c.19A>T c.1259A>T (p.Asp420Val) | dbSNP |
13 | g.48381269T>A | CA388163345 | RB1 | c.1521T>A (p.Asp507Glu) c.20T>A c.1260T>A (p.Asp420Glu) | dbSNP |
13 | g.48381269T>C | CA483559401 | RB1 | c.1521T>C (p.Asp507=) c.20T>C c.1260T>C (p.Asp420=) | |
13 | g.48381269T>G | CA388163346 | RB1 | c.1521T>G (p.Asp507Glu) c.20T>G c.1260T>G (p.Asp420Glu) | |
13 | g.48381270dup | CA2825002183 | RB1 | c.1522dup (p.Ser508PhefsTer15) c.21dup c.1261dup (p.Ser421PhefsTer15) | ClinVar |
13 | g.48381270del | CA2831039872 | RB1 | c.1522del (p.Ser508LeufsTer11) c.21del c.1261del (p.Ser421LeufsTer11) | |
13 | g.48381270T>A | CA388163349 | RB1 | c.1522T>A (p.Ser508Thr) c.21T>A c.1261T>A (p.Ser421Thr) | dbSNP |
13 | g.48381270T>C | CA388163351 | RB1 | c.1522T>C (p.Ser508Pro) c.21T>C c.1261T>C (p.Ser421Pro) | dbSNP |
13 | g.48381270T>G | CA388163353 | RB1 | c.1522T>G (p.Ser508Ala) c.21T>G c.1261T>G (p.Ser421Ala) | ClinVar |
13 | g.48381271C>A | CA388163355 | RB1 | c.1523C>A (p.Ser508Tyr) c.22C>A c.1262C>A (p.Ser421Tyr) | dbSNP |
13 | g.48381271C= | CA2089972312 | RB1 | c.1523C= (p.Ser508=) c.22C= c.1262C= (p.Ser421=) | |
13 | g.48381271C>G | CA388163357 | RB1 | c.1523C>G (p.Ser508Cys) c.22C>G c.1262C>G (p.Ser421Cys) | dbSNP |
13 | g.48381271C>T | CA388163359 | RB1 | c.1523C>T (p.Ser508Phe) c.22C>T c.1262C>T (p.Ser421Phe) | ClinVar dbSNP gnomAD v4 |
13 | g.48381272del | CA2697551854 | RB1 | c.1524del (p.Gly509GlufsTer10) c.23del c.1263del (p.Gly422GlufsTer10) | ClinVar |
13 | g.48381272T>A | CA483559404 | RB1 | c.1524T>A (p.Ser508=) c.23T>A c.1263T>A (p.Ser421=) | |
13 | g.48381272T>C | CA483559406 | RB1 | c.1524T>C (p.Ser508=) c.23T>C c.1263T>C (p.Ser421=) | |
13 | g.48381272T>G | CA483559403 | RB1 | c.1524T>G (p.Ser508=) c.23T>G c.1263T>G (p.Ser421=) | |
13 | g.48381273G>A | CA388163363 | RB1 | c.1525G>A (p.Gly509Arg) c.24G>A c.1264G>A (p.Gly422Arg) | dbSNP |
13 | g.48381273G>C | CA388163365 | RB1 | c.1525G>C (p.Gly509Arg) c.24G>C c.1264G>C (p.Gly422Arg) | dbSNP |
13 | g.48381273G>T | CA388163361 | RB1 | c.1525G>T (p.Gly509Ter) c.24G>T c.1264G>T (p.Gly422Ter) | dbSNP |
13 | g.48381274G>A | CA388163367 | RB1 | c.1526G>A (p.Gly509Glu) c.25G>A c.1265G>A (p.Gly422Glu) | dbSNP |
13 | g.48381274G>C | CA388163370 | RB1 | c.1526G>C (p.Gly509Ala) c.25G>C c.1265G>C (p.Gly422Ala) | ClinVar dbSNP |
13 | g.48381274G= | CA2089972320 | RB1 | c.1526G= (p.Gly509=) c.25G= c.1265G= (p.Gly422=) | |
13 | g.48381274G>T | CA388163371 | RB1 | c.1526G>T (p.Gly509Val) c.25G>T c.1265G>T (p.Gly422Val) | dbSNP |
13 | g.48381275A= | CA2089972321 | RB1 | c.1527A= (p.Gly509=) c.26A= c.1266A= (p.Gly422=) | |
13 | g.48381275A>C | CA483559407 | RB1 | c.1527A>C (p.Gly509=) c.26A>C c.1266A>C (p.Gly422=) | |
13 | g.48381275A>G | CA483559409 | RB1 | c.1527A>G (p.Gly509=) c.26A>G c.1266A>G (p.Gly422=) | ClinVar dbSNP gnomAD v4 |
13 | g.48381275A>T | CA483559411 | RB1 | c.1527A>T (p.Gly509=) c.26A>T c.1266A>T (p.Gly422=) | dbSNP |
13 | g.48381276A= | CA2089972326 | RB1 | c.1528A= (p.Thr510=) c.27A= c.1267A= (p.Thr423=) | |
13 | g.48381276A>C | CA388163374 | RB1 | c.1528A>C (p.Thr510Pro) c.27A>C c.1267A>C (p.Thr423Pro) | dbSNP |
13 | g.48381276A>G | CA249281918 | RB1 | c.1528A>G (p.Thr510Ala) c.27A>G c.1267A>G (p.Thr423Ala) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.48381276A>T | CA388163376 | RB1 | c.1528A>T (p.Thr510Ser) c.27A>T c.1267A>T (p.Thr423Ser) | dbSNP |
13 | g.48381277C>A | CA388163377 | RB1 | c.1529C>A (p.Thr510Lys) c.28C>A c.1268C>A (p.Thr423Lys) | ClinVar |
13 | g.48381277C>G | CA388163379 | RB1 | c.1529C>G (p.Thr510Arg) c.28C>G c.1268C>G (p.Thr423Arg) | dbSNP |
13 | g.48381277C>T | CA388163381 | RB1 | c.1529C>T (p.Thr510Ile) c.28C>T c.1268C>T (p.Thr423Ile) | dbSNP gnomAD v4 |
13 | g.48381278A>C | CA483559413 | RB1 | c.1530A>C (p.Thr510=) c.29A>C c.1269A>C (p.Thr423=) | |
13 | g.48381278A>G | CA483559415 | RB1 | c.1530A>G (p.Thr510=) c.29A>G c.1269A>G (p.Thr423=) | |
13 | g.48381278A>T | CA483559417 | RB1 | c.1530A>T (p.Thr510=) c.29A>T c.1269A>T (p.Thr423=) | dbSNP |
13 | g.48381279del | CA2580087602 | RB1 | c.1531del (p.Asp511IlefsTer8) c.30del c.1270del (p.Asp424IlefsTer8) | ClinVar |
13 | g.48381279G>A | CA249281921 | RB1 | c.1531G>A (p.Asp511Asn) c.30G>A c.1270G>A (p.Asp424Asn) | dbSNP |
13 | g.48381279G>C | CA388163383 | RB1 | c.1531G>C (p.Asp511His) c.30G>C c.1270G>C (p.Asp424His) | ClinVar dbSNP |
13 | g.48381279G= | CA2089972333 | RB1 | c.1531G= (p.Asp511=) c.30G= c.1270G= (p.Asp424=) | |
13 | g.48381279G>T | CA388163385 | RB1 | c.1531G>T (p.Asp511Tyr) c.30G>T c.1270G>T (p.Asp424Tyr) | ClinVar |
13 | g.48381280A= | CA2089972340 | RB1 | c.1532A= (p.Asp511=) c.31A= c.1271A= (p.Asp424=) | |
13 | g.48381280A>C | CA388163392 | RB1 | c.1532A>C (p.Asp511Ala) c.31A>C c.1271A>C (p.Asp424Ala) | dbSNP |
13 | g.48381280A>G | CA388163388 | RB1 | c.1532A>G (p.Asp511Gly) c.31A>G c.1271A>G (p.Asp424Gly) | ClinVar dbSNP |
13 | g.48381280A>T | CA388163391 | RB1 | c.1532A>T (p.Asp511Val) c.31A>T c.1271A>T (p.Asp424Val) | |
13 | g.48381280dup | CA2573149614 | RB1 | c.1532dup (p.Asp511GlufsTer12) c.31dup c.1271dup (p.Asp424GlufsTer12) | ClinVar dbSNP |
13 | g.48381280_48381281delinsAT | CA2089972339 | RB1 | c.1532_1533delinsAT (p.Asp511=) c.31_32delinsAT c.1271_1272delinsAT (p.Asp424=) | |
13 | g.48381281T>A | CA388163393 | RB1 | c.1533T>A (p.Asp511Glu) c.32T>A c.1272T>A (p.Asp424Glu) | ClinVar dbSNP |
13 | g.48381281T>C | CA483559422 | RB1 | c.1533T>C (p.Asp511=) c.32T>C c.1272T>C (p.Asp424=) | dbSNP gnomAD v4 |
13 | g.48381281T>G | CA388163396 | RB1 | c.1533T>G (p.Asp511Glu) c.32T>G c.1272T>G (p.Asp424Glu) | dbSNP |
13 | g.48381283dup | CA2831039873 | RB1 | c.1535dup (p.Leu512PhefsTer11) c.34dup c.1274dup (p.Leu425PhefsTer11) | |
13 | g.48381283del | CA029060 | RB1 | c.1535del (p.Leu512CysfsTer7) c.34del c.1274del (p.Leu425CysfsTer7) | dbSNP ExAC gnomAD v2 |
13 | g.48381282_48381283del | CA2695218491 | RB1 | c.1534_1535del (p.Leu512ValfsTer10) c.33_34del c.1273_1274del (p.Leu425ValfsTer10) | |
13 | g.48381282T>A | CA388163399 | RB1 | c.1534T>A (p.Leu512Met) c.33T>A c.1273T>A (p.Leu425Met) | gnomAD v4 |
13 | g.48381282T>C | CA483559423 | RB1 | c.1534T>C (p.Leu512=) c.33T>C c.1273T>C (p.Leu425=) | dbSNP |
13 | g.48381282T>G | CA388163401 | RB1 | c.1534T>G (p.Leu512Val) c.33T>G c.1273T>G (p.Leu425Val) | |
13 | g.48381283T>A | CA388163405 | RB1 | c.1535T>A (p.Leu512Ter) c.34T>A c.1274T>A (p.Leu425Ter) | dbSNP COSMIC COSMIC |
13 | g.48381283T>C | CA388163406 | RB1 | c.1535T>C (p.Leu512Ser) c.34T>C c.1274T>C (p.Leu425Ser) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381283T>G | CA388163409 | RB1 | c.1535T>G (p.Leu512Trp) c.34T>G c.1274T>G (p.Leu425Trp) | |
13 | g.48381283T= | CA2089972346 | RB1 | c.1535T= (p.Leu512=) c.34T= c.1274T= (p.Leu425=) | |
13 | g.48381284_48381285del | CA2695218492 | RB1 | c.1536_1537del (p.Leu512PhefsTer10) c.35_36del c.1275_1276del (p.Leu425PhefsTer10) | |
13 | g.48381284del | CA2831039874 | RB1 | c.1536del (p.Leu512PhefsTer7) c.35del c.1275del (p.Leu425PhefsTer7) | |
13 | g.48381284G>A | CA483559425 | RB1 | c.1536G>A (p.Leu512=) c.35G>A c.1275G>A (p.Leu425=) | ClinVar dbSNP gnomAD v4 |
13 | g.48381284G>C | CA388163411 | RB1 | c.1536G>C (p.Leu512Phe) c.35G>C c.1275G>C (p.Leu425Phe) | dbSNP |
13 | g.48381284G= | CA2089972350 | RB1 | c.1536G= (p.Leu512=) c.35G= c.1275G= (p.Leu425=) | |
13 | g.48381284G>T | CA249281930 | RB1 | c.1536G>T (p.Leu512Phe) c.35G>T c.1275G>T (p.Leu425Phe) | ClinVar dbSNP |
13 | g.48381285del | CA2695218493 | RB1 | c.1537del (p.Ser513LeufsTer6) c.36del c.1276del (p.Ser426LeufsTer6) | |
13 | g.48381285T>A | CA388163414 | RB1 | c.1537T>A (p.Ser513Thr) c.36T>A c.1276T>A (p.Ser426Thr) | dbSNP |
13 | g.48381285T>C | CA388163415 | RB1 | c.1537T>C (p.Ser513Pro) c.36T>C c.1276T>C (p.Ser426Pro) | ClinVar |
13 | g.48381285T>G | CA388163416 | RB1 | c.1537T>G (p.Ser513Ala) c.36T>G c.1276T>G (p.Ser426Ala) | |
13 | g.48381286_48381287del | CA645578676 | RB1 | c.1538_1539del (p.Ser513PhefsTer9) c.37_38del c.1277_1278del (p.Ser426PhefsTer9) | COSMIC |
13 | g.48381286C>A | CA388163420 | RB1 | c.1538C>A (p.Ser513Tyr) c.37C>A c.1277C>A (p.Ser426Tyr) | |
13 | g.48381286C= | CA2089972354 | RB1 | c.1538C= (p.Ser513=) c.37C= c.1277C= (p.Ser426=) | |
13 | g.48381286C>G | CA388163422 | RB1 | c.1538C>G (p.Ser513Cys) c.37C>G c.1277C>G (p.Ser426Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.48381286C>T | CA388163418 | RB1 | c.1538C>T (p.Ser513Phe) c.37C>T c.1277C>T (p.Ser426Phe) | ClinVar dbSNP |
13 | g.48381287T>A | CA029072 | RB1 | c.1539T>A (p.Ser513=) c.38T>A c.1278T>A (p.Ser426=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.48381287T>C | CA483559428 | RB1 | c.1539T>C (p.Ser513=) c.38T>C c.1278T>C (p.Ser426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381287T>G | CA483559427 | RB1 | c.1539T>G (p.Ser513=) c.38T>G c.1278T>G (p.Ser426=) | |
13 | g.48381287T= | CA2089972357 | RB1 | c.1539T= (p.Ser513=) c.38T= c.1278T= (p.Ser426=) | |
13 | g.48381288T>A | CA388163425 | RB1 | c.1540T>A (p.Phe514Ile) c.39T>A c.1279T>A (p.Phe427Ile) | dbSNP |
13 | g.48381288T>C | CA388163427 | RB1 | c.1540T>C (p.Phe514Leu) c.39T>C c.1279T>C (p.Phe427Leu) | ClinVar dbSNP |
13 | g.48381288T>G | CA388163429 | RB1 | c.1540T>G (p.Phe514Val) c.39T>G c.1279T>G (p.Phe427Val) | |
13 | g.48381289T>A | CA388163430 | RB1 | c.1541T>A (p.Phe514Tyr) c.40T>A c.1280T>A (p.Phe427Tyr) | |
13 | g.48381289T>C | CA388163432 | RB1 | c.1541T>C (p.Phe514Ser) c.40T>C c.1280T>C (p.Phe427Ser) | COSMIC COSMIC |
13 | g.48381289T>G | CA388163434 | RB1 | c.1541T>G (p.Phe514Cys) c.40T>G c.1280T>G (p.Phe427Cys) | |
13 | g.48381290C>A | CA388163439 | RB1 | c.1542C>A (p.Phe514Leu) c.41C>A c.1281C>A (p.Phe427Leu) | dbSNP |
13 | g.48381290C= | CA2089972360 | RB1 | c.1542C= (p.Phe514=) c.41C= c.1281C= (p.Phe427=) | |
13 | g.48381290C>G | CA388163437 | RB1 | c.1542C>G (p.Phe514Leu) c.41C>G c.1281C>G (p.Phe427Leu) | dbSNP gnomAD v4 |
13 | g.48381290C>T | CA483559430 | RB1 | c.1542C>T (p.Phe514=) c.41C>T c.1281C>T (p.Phe427=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381291C>A | CA249281936 | RB1 | c.1543C>A (p.Pro515Thr) c.42C>A c.1282C>A (p.Pro428Thr) | dbSNP |
13 | g.48381291C= | CA2089972366 | RB1 | c.1543C= (p.Pro515=) c.42C= c.1282C= (p.Pro428=) | |
13 | g.48381291C>G | CA388163441 | RB1 | c.1543C>G (p.Pro515Ala) c.42C>G c.1282C>G (p.Pro428Ala) | dbSNP |
13 | g.48381291C>T | CA388163442 | RB1 | c.1543C>T (p.Pro515Ser) c.42C>T c.1282C>T (p.Pro428Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.48381292C>A | CA388163443 | RB1 | c.1544C>A (p.Pro515Gln) c.43C>A c.1283C>A (p.Pro428Gln) | dbSNP |
13 | g.48381292C= | CA2089972373 | RB1 | c.1544C= (p.Pro515=) c.43C= c.1283C= (p.Pro428=) | |
13 | g.48381292C>G | CA388163445 | RB1 | c.1544C>G (p.Pro515Arg) c.43C>G c.1283C>G (p.Pro428Arg) | dbSNP |
13 | g.48381292C>T | CA249281937 | RB1 | c.1544C>T (p.Pro515Leu) c.43C>T c.1283C>T (p.Pro428Leu) | dbSNP COSMIC |
13 | g.48381293A= | CA2089972375 | RB1 | c.1545A= (p.Pro515=) c.44A= c.1284A= (p.Pro428=) | |
13 | g.48381293A>C | CA483559434 | RB1 | c.1545A>C (p.Pro515=) c.44A>C c.1284A>C (p.Pro428=) | gnomAD v4 |
13 | g.48381293A>G | CA483559435 | RB1 | c.1545A>G (p.Pro515=) c.44A>G c.1284A>G (p.Pro428=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381293A>T | CA483559433 | RB1 | c.1545A>T (p.Pro515=) c.44A>T c.1284A>T (p.Pro428=) | dbSNP |
13 | g.48381294T>A | CA388163449 | RB1 | c.1546T>A (p.Trp516Arg) c.45T>A c.1285T>A (p.Trp429Arg) | |
13 | g.48381294T>C | CA388163452 | RB1 | c.1546T>C (p.Trp516Arg) c.45T>C c.1285T>C (p.Trp429Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.48381294T>G | CA249281938 | RB1 | c.1546T>G (p.Trp516Gly) c.45T>G c.1285T>G (p.Trp429Gly) | dbSNP |
13 | g.48381294T= | CA2089972380 | RB1 | c.1546T= (p.Trp516=) c.45T= c.1285T= (p.Trp429=) | |
13 | g.48381295G>A | CA388163455 | RB1 | c.1547G>A (p.Trp516Ter) c.46G>A c.1286G>A (p.Trp429Ter) | |
13 | g.48381295G>C | CA388163457 | RB1 | c.1547G>C (p.Trp516Ser) c.46G>C c.1286G>C (p.Trp429Ser) | ClinVar dbSNP |
13 | g.48381295G= | CA2089972387 | RB1 | c.1547G= (p.Trp516=) c.46G= c.1286G= (p.Trp429=) | |
13 | g.48381295G>T | CA388163459 | RB1 | c.1547G>T (p.Trp516Leu) c.46G>T c.1286G>T (p.Trp429Leu) | |
13 | g.48381296G>A | CA388163461 | RB1 | c.1548G>A (p.Trp516Ter) c.47G>A c.1287G>A (p.Trp429Ter) | dbSNP COSMIC |
13 | g.48381296G>C | CA388163463 | RB1 | c.1548G>C (p.Trp516Cys) c.47G>C c.1287G>C (p.Trp429Cys) | dbSNP |
13 | g.48381296G>T | CA388163465 | RB1 | c.1548G>T (p.Trp516Cys) c.47G>T c.1287G>T (p.Trp429Cys) | dbSNP |
13 | g.48381297del | CA2695218494 | RB1 | c.1549del (p.Ile517PhefsTer2) c.48del c.1288del (p.Ile430PhefsTer2) | |
13 | g.48381297A>C | CA388163467 | RB1 | c.1549A>C (p.Ile517Leu) c.48A>C c.1288A>C (p.Ile430Leu) | |
13 | g.48381297A>G | CA388163468 | RB1 | c.1549A>G (p.Ile517Val) c.48A>G c.1288A>G (p.Ile430Val) | |
13 | g.48381297A>T | CA388163470 | RB1 | c.1549A>T (p.Ile517Phe) c.48A>T c.1288A>T (p.Ile430Phe) | dbSNP |
13 | g.48381298T>A | CA388163472 | RB1 | c.1550T>A (p.Ile517Asn) c.49T>A c.1289T>A (p.Ile430Asn) | ClinVar dbSNP |
13 | g.48381298T>C | CA388163473 | RB1 | c.1550T>C (p.Ile517Thr) c.49T>C c.1289T>C (p.Ile430Thr) | |
13 | g.48381298T>G | CA388163476 | RB1 | c.1550T>G (p.Ile517Ser) c.49T>G c.1289T>G (p.Ile430Ser) | |
13 | g.48381299T>A | CA483559437 | RB1 | c.1551T>A (p.Ile517=) c.50T>A c.1290T>A (p.Ile430=) | |
13 | g.48381299T>C | CA483559439 | RB1 | c.1551T>C (p.Ile517=) c.50T>C c.1290T>C (p.Ile430=) | |
13 | g.48381299T>G | CA388163478 | RB1 | c.1551T>G (p.Ile517Met) c.50T>G c.1290T>G (p.Ile430Met) | |
13 | g.48381300C>A | CA388163482 | RB1 | c.1552C>A (p.Leu518Met) c.51C>A c.1291C>A (p.Leu431Met) | dbSNP |
13 | g.48381300C>G | CA388163480 | RB1 | c.1552C>G (p.Leu518Val) c.51C>G c.1291C>G (p.Leu431Val) | dbSNP |
13 | g.48381300C>T | CA483559440 | RB1 | c.1552C>T (p.Leu518=) c.51C>T c.1291C>T (p.Leu431=) | dbSNP |
13 | g.48381301T>A | CA388163484 | RB1 | c.1553T>A (p.Leu518Gln) c.52T>A c.1292T>A (p.Leu431Gln) | |
13 | g.48381301T>C | CA388163485 | RB1 | c.1553T>C (p.Leu518Pro) c.52T>C c.1292T>C (p.Leu431Pro) | ClinVar dbSNP |
13 | g.48381301T>G | CA388163487 | RB1 | c.1553T>G (p.Leu518Arg) c.52T>G c.1292T>G (p.Leu431Arg) | gnomAD v4 |
13 | g.48381302G>A | CA483559441 | RB1 | c.1554G>A (p.Leu518=) c.53G>A c.1293G>A (p.Leu431=) | dbSNP |
13 | g.48381302G>C | CA483559443 | RB1 | c.1554G>C (p.Leu518=) c.53G>C c.1293G>C (p.Leu431=) | ClinVar dbSNP |
13 | g.48381302G>T | CA483559444 | RB1 | c.1554G>T (p.Leu518=) c.53G>T c.1293G>T (p.Leu431=) | |
13 | g.48381302_48381309del | CA2697551855 | RB1 | c.1554_1561del (p.Asn519Ter) c.53_60del c.1293_1300del (p.Asn432Ter) | ClinVar |
13 | g.48381303A>C | CA388163489 | RB1 | c.1555A>C (p.Asn519His) c.54A>C c.1294A>C (p.Asn432His) | |
13 | g.48381303A>G | CA388163490 | RB1 | c.1555A>G (p.Asn519Asp) c.54A>G c.1294A>G (p.Asn432Asp) | |
13 | g.48381303A>T | CA388163493 | RB1 | c.1555A>T (p.Asn519Tyr) c.54A>T c.1294A>T (p.Asn432Tyr) | dbSNP |
13 | g.48381305_48381306insATTTAAT | CA2695218495 | RB1 | c.1557_1558insATTTAAT (p.Val520IlefsTer2) c.56_57insATTTAAT c.1296_1297insATTTAAT (p.Val433IlefsTer2) | |
13 | g.48381303_48381314del | CA2831039875 | RB1 | c.1555_1566del (p.Asn519_Asn522del) c.54_65del c.1294_1305del (p.Asn432_Asn435del) | |
13 | g.48381304A= | CA2089972390 | RB1 | c.1556A= (p.Asn519=) c.55A= c.1295A= (p.Asn432=) | |
13 | g.48381304A>C | CA388163499 | RB1 | c.1556A>C (p.Asn519Thr) c.55A>C c.1295A>C (p.Asn432Thr) | gnomAD v4 |
13 | g.48381304A>G | CA388163495 | RB1 | c.1556A>G (p.Asn519Ser) c.55A>G c.1295A>G (p.Asn432Ser) | dbSNP |
13 | g.48381304A>T | CA388163497 | RB1 | c.1556A>T (p.Asn519Ile) c.55A>T c.1295A>T (p.Asn432Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381305del | CA2695218496 | RB1 | c.1557del (p.Asn519LysfsTer5) c.56del c.1296del (p.Asn432LysfsTer5) | |
13 | g.48381305T>A | CA388163502 | RB1 | c.1557T>A (p.Asn519Lys) c.56T>A c.1296T>A (p.Asn432Lys) | dbSNP |
13 | g.48381305T>C | CA483559445 | RB1 | c.1557T>C (p.Asn519=) c.56T>C c.1296T>C (p.Asn432=) | ClinVar |
13 | g.48381305T>G | CA249281939 | RB1 | c.1557T>G (p.Asn519Lys) c.56T>G c.1296T>G (p.Asn432Lys) | dbSNP gnomAD v4 |
13 | g.48381305T= | CA2089972396 | RB1 | c.1557T= (p.Asn519=) c.56T= c.1296T= (p.Asn432=) | |
13 | g.48381306G>A | CA388163512 | RB1 | c.1558G>A (p.Val520Met) c.57G>A c.1297G>A (p.Val433Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.48381306G>C | CA388163513 | RB1 | c.1558G>C (p.Val520Leu) c.57G>C c.1297G>C (p.Val433Leu) | ClinVar dbSNP |
13 | g.48381306G= | CA2089972400 | RB1 | c.1558G= (p.Val520=) c.57G= c.1297G= (p.Val433=) | |
13 | g.48381306G>T | CA388163514 | RB1 | c.1558G>T (p.Val520Leu) c.57G>T c.1297G>T (p.Val433Leu) | |
13 | g.48381307T>A | CA388163516 | RB1 | c.1559T>A (p.Val520Glu) c.58T>A c.1298T>A (p.Val433Glu) | dbSNP |
13 | g.48381307T>C | CA388163519 | RB1 | c.1559T>C (p.Val520Ala) c.58T>C c.1298T>C (p.Val433Ala) | |
13 | g.48381307T>G | CA388163518 | RB1 | c.1559T>G (p.Val520Gly) c.58T>G c.1298T>G (p.Val433Gly) | dbSNP gnomAD v4 |
13 | g.48381308G>A | CA483559448 | RB1 | c.1560G>A (p.Val520=) c.59G>A c.1299G>A (p.Val433=) | dbSNP |
13 | g.48381308G>C | CA483559449 | RB1 | c.1560G>C (p.Val520=) c.59G>C c.1299G>C (p.Val433=) | dbSNP |
13 | g.48381308G>T | CA483559450 | RB1 | c.1560G>T (p.Val520=) c.59G>T c.1299G>T (p.Val433=) | dbSNP |
13 | g.48381309C>A | CA388163522 | RB1 | c.1561C>A (p.Leu521Ile) c.60C>A c.1300C>A (p.Leu434Ile) | ClinVar dbSNP |
13 | g.48381309C>G | CA388163523 | RB1 | c.1561C>G (p.Leu521Val) c.60C>G c.1300C>G (p.Leu434Val) | ClinVar dbSNP |
13 | g.48381309C>T | CA388163525 | RB1 | c.1561C>T (p.Leu521Phe) c.60C>T c.1300C>T (p.Leu434Phe) | dbSNP |
13 | g.48381310T>A | CA388163527 | RB1 | c.1562T>A (p.Leu521His) c.61T>A c.1301T>A (p.Leu434His) | ClinVar dbSNP |
13 | g.48381310T>C | CA388163529 | RB1 | c.1562T>C (p.Leu521Pro) c.61T>C c.1301T>C (p.Leu434Pro) | dbSNP |
13 | g.48381310T>G | CA388163530 | RB1 | c.1562T>G (p.Leu521Arg) c.61T>G c.1301T>G (p.Leu434Arg) | |
13 | g.48381311T>A | CA483559453 | RB1 | c.1563T>A (p.Leu521=) c.62T>A c.1302T>A (p.Leu434=) | ClinVar dbSNP |
13 | g.48381311T>C | CA483559454 | RB1 | c.1563T>C (p.Leu521=) c.62T>C c.1302T>C (p.Leu434=) | |
13 | g.48381311T>G | CA483559456 | RB1 | c.1563T>G (p.Leu521=) c.62T>G c.1302T>G (p.Leu434=) | |
13 | g.48381312A>C | CA388163532 | RB1 | c.1564A>C (p.Asn522His) c.63A>C c.1303A>C (p.Asn435His) | ClinVar |
13 | g.48381312A>G | CA388163534 | RB1 | c.1564A>G (p.Asn522Asp) c.63A>G c.1303A>G (p.Asn435Asp) | ClinVar dbSNP |
13 | g.48381312A>T | CA388163536 | RB1 | c.1564A>T (p.Asn522Tyr) c.63A>T c.1303A>T (p.Asn435Tyr) | dbSNP |
13 | g.48381313A= | CA2089972404 | RB1 | c.1565A= (p.Asn522=) c.64A= c.1304A= (p.Asn435=) | |
13 | g.48381313A>C | CA388163538 | RB1 | c.1565A>C (p.Asn522Thr) c.64A>C c.1304A>C (p.Asn435Thr) | |
13 | g.48381313A>G | CA388163540 | RB1 | c.1565A>G (p.Asn522Ser) c.64A>G c.1304A>G (p.Asn435Ser) | |
13 | g.48381313A>T | CA388163541 | RB1 | c.1565A>T (p.Asn522Ile) c.64A>T c.1304A>T (p.Asn435Ile) | |
13 | g.48381314T>A | CA388163544 | RB1 | c.1566T>A (p.Asn522Lys) c.65T>A c.1305T>A (p.Asn435Lys) | dbSNP |
13 | g.48381314T>C | CA483559459 | RB1 | c.1566T>C (p.Asn522=) c.65T>C c.1305T>C (p.Asn435=) | |
13 | g.48381314T>G | CA388163543 | RB1 | c.1566T>G (p.Asn522Lys) c.65T>G c.1305T>G (p.Asn435Lys) | |
13 | g.48381315_48381316dup | CA916081694 | RB1 | c.1567_1568dup (p.Leu523PhefsTer2) c.66_67dup c.1306_1307dup (p.Leu436PhefsTer2) | ClinVar dbSNP |
13 | g.48381316del | CA2837994907 | RB1 | c.1568del (p.Leu523Ter) c.67del c.1307del (p.Leu436Ter) | |
13 | g.48381315_48381316del | CA2830782516 | RB1 | c.1567_1568del (p.Leu523LysfsTer4) c.66_67del c.1306_1307del (p.Leu436LysfsTer4) | |
13 | g.48381315T>A | CA388163545 | RB1 | c.1567T>A (p.Leu523Ile) c.66T>A c.1306T>A (p.Leu436Ile) | |
13 | g.48381315T>C | CA483559461 | RB1 | c.1567T>C (p.Leu523=) c.66T>C c.1306T>C (p.Leu436=) | |
13 | g.48381315T>G | CA388163547 | RB1 | c.1567T>G (p.Leu523Val) c.66T>G c.1306T>G (p.Leu436Val) | |
13 | g.48381316T>A | CA388163549 | RB1 | c.1568T>A (p.Leu523Ter) c.67T>A c.1307T>A (p.Leu436Ter) | ClinVar dbSNP |
13 | g.48381316T>C | CA388163551 | RB1 | c.1568T>C (p.Leu523Ser) c.67T>C c.1307T>C (p.Leu436Ser) | |
13 | g.48381316T>G | CA388163553 | RB1 | c.1568T>G (p.Leu523Ter) c.67T>G c.1307T>G (p.Leu436Ter) | ClinVar |
13 | g.48381316_48381319dup | CA2695218497 | RB1 | c.1568_1571dup (p.Lys524AsnfsTer5) c.67_70dup c.1307_1310dup (p.Lys437AsnfsTer5) | |
13 | g.48381317A>C | CA388163555 | RB1 | c.1569A>C (p.Leu523Phe) c.68A>C c.1308A>C (p.Leu436Phe) | |
13 | g.48381317A>G | CA483559463 | RB1 | c.1569A>G (p.Leu523=) c.68A>G c.1308A>G (p.Leu436=) | ClinVar |
13 | g.48381317A>T | CA388163556 | RB1 | c.1569A>T (p.Leu523Phe) c.68A>T c.1308A>T (p.Leu436Phe) | dbSNP |
13 | g.48381320dup | CA2580087605 | RB1 | c.1572dup (p.Ala525SerfsTer3) c.71dup c.1311dup (p.Ala438SerfsTer3) | ClinVar |
13 | g.48381319_48381320dup | CA2695218498 | RB1 | c.1571_1572dup (p.Ala525LysfsTer8) c.70_71dup c.1310_1311dup (p.Ala438LysfsTer8) | |
13 | g.48381320del | CA2499222454 | RB1 | c.1572del (p.Ala525ProfsTer7) c.71del c.1311del (p.Ala438ProfsTer7) | ClinVar dbSNP |
13 | g.48381318A>C | CA388163559 | RB1 | c.1570A>C (p.Lys524Gln) c.69A>C c.1309A>C (p.Lys437Gln) | dbSNP |
13 | g.48381318A>G | CA388163561 | RB1 | c.1570A>G (p.Lys524Glu) c.69A>G c.1309A>G (p.Lys437Glu) | |
13 | g.48381318A>T | CA388163562 | RB1 | c.1570A>T (p.Lys524Ter) c.69A>T c.1309A>T (p.Lys437Ter) | dbSNP |
13 | g.48381319A>C | CA388163565 | RB1 | c.1571A>C (p.Lys524Thr) c.70A>C c.1310A>C (p.Lys437Thr) | |
13 | g.48381319A>G | CA388163567 | RB1 | c.1571A>G (p.Lys524Arg) c.70A>G c.1310A>G (p.Lys437Arg) | |
13 | g.48381319A>T | CA388163569 | RB1 | c.1571A>T (p.Lys524Ile) c.70A>T c.1310A>T (p.Lys437Ile) | |
13 | g.48381319_48381321del | CA2695218499 | RB1 | c.1571_1573del (p.Lys524_Ala525delinsThr) c.70_72del c.1310_1312del (p.Lys437_Ala438delinsThr) | |
13 | g.48381319_48381326del | CA645578677 | RB1 | c.1571_1578del (p.Lys524ArgfsTer28) c.70_77del c.1310_1317del (p.Lys437ArgfsTer28) | COSMIC COSMIC |
13 | g.48381320A>C | CA388163570 | RB1 | c.1572A>C (p.Lys524Asn) c.71A>C c.1311A>C (p.Lys437Asn) | |
13 | g.48381320A>G | CA483559465 | RB1 | c.1572A>G (p.Lys524=) c.71A>G c.1311A>G (p.Lys437=) | |
13 | g.48381320A>T | CA388163572 | RB1 | c.1572A>T (p.Lys524Asn) c.71A>T c.1311A>T (p.Lys437Asn) | dbSNP |
13 | g.48381321del | CA2831039876 | RB1 | c.1573del (p.Ala525ProfsTer7) c.72del c.1312del (p.Ala438ProfsTer7) | |
13 | g.48381321G>A | CA026380 | RB1 | c.1573G>A (p.Ala525Thr) c.72G>A c.1312G>A (p.Ala438Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.48381321G>C | CA388163576 | RB1 | c.1573G>C (p.Ala525Pro) c.72G>C c.1312G>C (p.Ala438Pro) | dbSNP |
13 | g.48381321G= | CA2089972414 | RB1 | c.1573G= (p.Ala525=) c.72G= c.1312G= (p.Ala438=) | |
13 | g.48381321G>T | CA388163575 | RB1 | c.1573G>T (p.Ala525Ser) c.72G>T c.1312G>T (p.Ala438Ser) | |
13 | g.48381321_48381322delinsGC | CA2089972417 | RB1 | c.1573_1574delinsGC (p.Ala525=) c.72_73delinsGC c.1312_1313delinsGC (p.Ala438=) | |
13 | g.48381322C>A | CA388163580 | RB1 | c.1574C>A (p.Ala525Asp) c.73C>A c.1313C>A (p.Ala438Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.48381322C= | CA2089972425 | RB1 | c.1574C= (p.Ala525=) c.73C= c.1313C= (p.Ala438=) | |
13 | g.48381322C>G | CA026381 | RB1 | c.1574C>G (p.Ala525Gly) c.73C>G c.1313C>G (p.Ala438Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.48381322C>T | CA388163584 | RB1 | c.1574C>T (p.Ala525Val) c.73C>T c.1313C>T (p.Ala438Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.48381323del | CA483559467 | RB1 | c.1575del (p.Phe526LeufsTer6) c.74del c.1314del (p.Phe439LeufsTer6) | ClinVar dbSNP COSMIC COSMIC |
13 | g.48381323C>A | CA483559468 | RB1 | c.1575C>A (p.Ala525=) c.74C>A c.1314C>A (p.Ala438=) | dbSNP |
13 | g.48381323C>G | CA483559469 | RB1 | c.1575C>G (p.Ala525=) c.74C>G c.1314C>G (p.Ala438=) | ClinVar dbSNP |
13 | g.48381323C>T | CA483559470 | RB1 | c.1575C>T (p.Ala525=) c.74C>T c.1314C>T (p.Ala438=) | dbSNP gnomAD v4 COSMIC |