All variants in the RB1 gene

Information The variants shown are described using the NM_000321.2 transcript reference sequence.

1794 entries on 18 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 15 c.1422-1? r.(?) p.? - VUS g.48954300? - - - RB1_001536 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 17i c.1695+82? r.(?) p.(=) - VUS g.48955661? - 1695+82 - RB1_001065 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 21 c.2170? r.(?) p.? - VUS g.49037930? - - - RB1_001503 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-1863_-1862insGATACT r.spl p.? - VUS g.48876186_48876187insGATACT g.48302050_48302051insGATACT -1865_-1864insCTGATA - RB1_000991 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-1861del r.(=) p.(=) - VUS g.48876188del g.48302052del -1862del - RB1_000992 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-495T>C r.(=) p.(=) - VUS g.48877554T>C g.48303418T>C - - RB1_001350 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-459C>T r.(=) p.(=) - VUS g.48877590C>T g.48303454C>T - - RB1_001001 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-342C>T r.(=) p.(=) - VUS g.48877707C>T g.48303571C>T - - RB1_000953 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-294T>C r.(=) p.(=) - VUS g.48877755T>C g.48303619T>C regulatory - RB1_001670 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-288C>T r.(=) p.(=) - VUS g.48877761C>T g.48303625C>T regulatory - RB1_001855 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-249_-147del r.0? p.0? - VUS g.48877800_48877902del g.48303664_48303766del -249_147del - RB1_001304 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/. _1 c.-235G>A r.(=) p.(=) - pathogenic g.48877814G>A g.48303678G>A g.1825 G>A - RB1_002143 - - - - Germline - - - 0 - Rossukon Kaewkhaw
?/? _1 c.-212G>A r.(=) p.(=) - VUS g.48877837G>A g.48303701G>A - - RB1_000926 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-206_-189del r.(=) p.(=) - VUS g.48877843_48877860del g.48303707_48303724del - - RB1_000927 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-198G>A r.(=) p.(=) - VUS g.48877851G>A g.48303715G>A - - RB1_000018 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-198G>T r.(=) p.(=) - VUS g.48877851G>T g.48303715G>T - - RB1_001877 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-197G>A r.(=) p.(=) - VUS g.48877852G>A g.48303716G>A - - RB1_000928 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/. - c.-197G>A r.(?) p.(=) - pathogenic g.48877852G>A g.48303716G>A RB1(NM_000321.2):c.-197G>A - RB1_000928 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? _1 c.-197_-196delinsTT r.(=) p.(=) - VUS g.48877852_48877853delinsTT g.48303716_48303717delinsTT - - RB1_000470 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-193T>A r.(=) p.(=) - VUS g.48877856T>A g.48303720T>A - - RB1_001326 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-193T>G r.(=) p.(=) - VUS g.48877856T>G g.48303720T>G - - RB1_001294 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-192G>A r.(=) p.(=) - VUS g.48877857G>A g.48303721G>A - - RB1_001534 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-189G>T r.(=) p.(=) - VUS g.48877860G>T g.48303724G>T - - RB1_000017 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.? r.(=) p.(=) - VUS g.48876360? - -1689C>A - RB1_000993 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.? r.(=) p.(=) - VUS g.48876594? - -1455T>C - RB1_000994 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.? r.(=) p.(=) - VUS g.48876903? - -1146C>T - RB1_000995 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.? r.(=) p.(=) - VUS g.48877012? - -1037G>A - RB1_000996 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.? r.(=) p.(=) - VUS g.48877208? - -841C>T - RB1_000997 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.? r.(=) p.(=) - VUS g.48877271? - -778C>T - RB1_000998 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.? r.(=) p.(=) - VUS g.48877317? - -732A>C - RB1_000999 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.? r.(=) p.(=) - VUS g.48877398? - -651A>G - RB1_001000 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? _1 c.-150G>C r.(=) p.(=) - VUS g.48877899G>C g.48303763G>C - - RB1_000022 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.-4C>G r.(?) p.(=) - VUS g.48878045C>G g.48303909C>G - - RB1_001370 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.1A>G r.(?) p.0? - VUS g.48878049A>G g.48303913A>G p.Met1Val - RB1_001443 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.3G>C r.(?) p.0? - VUS g.48878051G>C g.48303915G>C p.Met1Ile - RB1_001455 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.14_24del r.(?) p.(Thr5Asnfs*22) - pathogenic g.48878062_48878072del g.48303926_48303936del - - RB1_001961 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.18_36del r.(?) p.(Arg7Profs*52) - pathogenic g.48878066_48878084del g.48303930_48303948del - - RB1_000834 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.19C>T r.(?) p.(Arg7*) - VUS g.48878067C>T g.48303931C>T - - RB1_001672 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.19del r.(?) p.(Arg7Glufs*58) - pathogenic g.48878067del g.48303931del - - RB1_001208 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/. - c.19del r.(?) p.(Arg7GlufsTer58) - pathogenic g.48878067del g.48303931del RB1(NM_000321.2):c.19delC (p.R7Efs*58) - RB1_001208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 c.19dup r.(?) p.(Arg7Profs*24) - pathogenic g.48878067dup g.48303931dup - - RB1_000449 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.19_21delinsGG r.(?) p.(Arg7Glyfs*58) - VUS g.48878067_48878069delinsGG g.48303931_48303933delinsGG 19delCGAinsGG - RB1_000839 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.20dup r.(?) p.(Thr9Asnfs*22) - pathogenic g.48878068dup g.48303932dup 21insG - RB1_000340 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.27_58del r.(?) p.(Ala10Profs*10) - pathogenic g.48878075_48878106del g.48303939_48303970del 24_55del - RB1_000858 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
-?/-? 1 c.31_33dup r.(?) p.(Ala11dup) - likely benign g.48878079_48878081dup g.48303943_48303945dup 31_33dupGCC - RB1_001447 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.32_63del r.(?) p.(Ala11Glyfs*9) - pathogenic g.48878080_48878111del g.48303944_48303975del - - RB1_000724 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/. - c.34_74del r.(?) p.(Thr12Alafs*5) - pathogenic g.48878082_48878122del g.48303946_48303986del 34_74del41 - RB1_002136 - - - - Germline - - - 0 - Gemeinschaftspraxis für Humangenetik Dresden
?/? 1 c.40dup r.(?) p.(Ala14Glyfs*17) - VUS g.48878088dup g.48303952dup - - RB1_002017 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
-?/. - c.42C>T r.(?) p.(Ala14=) - likely benign g.48878090C>T g.48303954C>T RB1(NM_000321.2):c.42C>T (p.A14=) - RB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/? 1 c.42C>T r.(?) p.(=) - VUS g.48878090C>T g.48303954C>T - - RB1_000023 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
-?/. - c.42C>T r.(?) p.(Ala14=) - likely benign g.48878090C>T g.48303954C>T RB1(NM_000321.2):c.42C>T (p.A14=) - RB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 c.43_65del r.(?) p.(Ala15Thrfs*8) - VUS g.48878091_48878113del g.48303955_48303977del - - RB1_001336 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? - c.45_46ins(23) r.(?) p.? - VUS g.48878093_48878094ins(23) - 45_46ins23 - RB1_000864 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
-?/-? 1 c.45_53del r.(?) p.(Ala16_Ala18del) - likely benign g.48878093_48878101del g.48303957_48303965del - - RB1_000957 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
-?/. - c.45_53del r.(?) p.(Ala16_Ala18del) - likely benign g.48878093_48878101del g.48303957_48303965del RB1(NM_000321.2):c.37_45del (p.(Ala16_Ala18del)) - RB1_000957 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 c.45_70del r.(?) p.(Glu19Profs*3) - pathogenic g.48878093_48878118del g.48303957_48303982del - - RB1_000318 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.45_73del r.(?) p.(Ala18Profs*3) - VUS g.48878093_48878121del g.48303957_48303985del - - RB1_002019 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.45_76del r.(?) p.(Ala17Profs*3) - pathogenic g.48878093_48878124del g.48303957_48303988del - - RB1_001409 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.45_78dup r.(?) p.(Pro27Cysfs*15) - pathogenic g.48878093_48878126dup g.48303957_48303990dup - - RB1_001324 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.45_79del r.(?) p.(Ala16Profs*3) - VUS g.48878093_48878127del g.48303957_48303991del - - RB1_000422 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.45_79dup r.(?) p.(Pro27Leufs*50) - VUS g.48878093_48878127dup g.48303957_48303991dup - - RB1_002018 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.46_65dup r.(?) p.(Pro25Argfs*47) - VUS g.48878094_48878113dup g.48303958_48303977dup - - RB1_001962 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
-/- 1 c.52_80dup r.(?) p.(Pro28Argfs*47) - benign g.48878100_48878128dup g.48303964_48303992dup - - RB1_001775 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.54_73del r.(?) p.(Glu19Alafs*5) - pathogenic g.48878102_48878121del g.48303966_48303985del 47_66del - RB1_000563 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.54_76del r.(?) p.(Glu19Alafs*4) - pathogenic g.48878102_48878124del g.48303966_48303988del - - RB1_001858 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.54_76dup r.(?) p.(Pro26Argfs*47) - VUS g.48878102_48878124dup g.48303966_48303988dup - - RB1_002020 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.54_79del r.(?) p.(Glu19Profs*3) - pathogenic g.48878102_48878127del g.48303966_48303991del - - RB1_000360 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.55del r.(?) p.(Glu19Asnfs*46) - pathogenic g.48878103del g.48303967del - - RB1_001209 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.59C>T r.(?) p.(Pro20Leu) - VUS g.48878107C>T g.48303971C>T - - RB1_000493 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.59_71del r.(?) p.(Pro20Argfs*41) - VUS g.48878107_48878119del g.48303971_48303983del - - RB1_001587 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.61_74del r.(?) p.(Pro21Alafs*5) - VUS g.48878109_48878122del g.48303973_48303986del - - RB1_001518 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.62del r.(?) p.(Pro21Argfs*44) - pathogenic g.48878110del g.48303974del 58delC - RB1_000646 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.62dup r.(?) p.(Ala22Glyfs*9) - VUS g.48878110dup g.48303974dup - - RB1_001963 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.64dup r.(?) p.(Ala22Glyfs*9) - VUS g.48878112dup g.48303976dup - - RB1_001517 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.65C>A r.(?) p.(Ala22Glu) - VUS g.48878113C>A g.48303977C>A - - RB1_001377 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.65del r.(?) p.(Ala22Aspfs*43) - pathogenic g.48878113del g.48303977del - - RB1_001362 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.65delinsGA r.(?) p.(Ala22Glyfs*9) - pathogenic g.48878113delinsGA g.48303977delinsGA - - RB1_000463 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? - c.65_66ins(20) r.(?) p.? - VUS g.48878113_48878114ins(20) - 65_66ins20 - RB1_001586 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.67_104del r.(?) p.(Pro23Glyfs*13) - pathogenic g.48878115_48878152del g.48303979_48304016del - - RB1_000448 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
-?/-? 1 c.68C>T r.(?) p.(Pro23Leu) - likely benign g.48878116C>T g.48303980C>T - - RB1_001456 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.72_78del r.(?) p.(Pro26Leufs*37) - pathogenic g.48878120_48878126del g.48303984_48303990del - - RB1_000024 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.75_80del r.(?) p.(Pro28_Pro29del) - VUS g.48878123_48878128del g.48303987_48303992del 68_73del - RB1_000621 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? - c.78_79ins(23) r.(?) p.? - VUS g.48878126_48878127ins(23) - 78_79ins23 - RB1_001673 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
-?/-? 1 c.78_80del r.(?) p.(Pro29del) - likely benign g.48878126_48878128del g.48303990_48303992del - - RB1_001448 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/. 1 c.83C>G r.(?) p.(Pro28Arg) - pathogenic g.48878131C>G g.48303995C>G g.2142 C>G - RB1_002147 - - - - Germline - - - 0 - Rossukon Kaewkhaw
?/? 1 c.83del r.(?) p.(Pro28Leufs*37) - VUS g.48878131del g.48303995del - - RB1_001210 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.83dup r.(?) p.(Pro29Serfs*2) - VUS g.48878131dup g.48303995dup 83dupC - RB1_001584 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.84dup r.(?) p.(Pro29Serfs*2) - pathogenic g.48878132dup g.48303996dup - - RB1_000648 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.88G>T r.(?) p.(Glu30*) - pathogenic g.48878136G>T g.48304000G>T - - RB1_000025 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.89del r.(?) p.(Glu30Glyfs*35) - VUS g.48878137del g.48304001del 89delA - RB1_001671 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.91G>T r.(?) p.(Glu31*) - VUS g.48878139G>T g.48304003G>T - - RB1_001492 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/. 1 c.92_93del r.(?) p.(Glu31Glyfs*17) - pathogenic g.48878140_48878141del g.48304004_48304005del g.2151_2152 del - RB1_002145 - - - - Germline - - - 0 - Rossukon Kaewkhaw
?/? 1 c.98dup r.(?) p.(Glu34Argfs*15) - VUS g.48878146dup g.48304010dup - - RB1_001201 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ - c.100G>T r.(?) p.(Glu34*) - pathogenic g.48878148G>T g.48304012G>T - - RB1_001411 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.103C>T r.(?) p.(Gln35*) - pathogenic g.48878151C>T g.48304015C>T - - RB1_000319 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.109_112delinsCCAGA r.(?) p.(Ser37Profs*12) - VUS g.48878157_48878160delinsCCAGA g.48304021_48304024delinsCCAGA - - RB1_001585 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.109_116del r.(?) p.(Ser37Glyfs*9) - pathogenic g.48878157_48878164del g.48304021_48304028del - - RB1_000799 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.110dup r.(?) p.(Ser37Argfs*12) - pathogenic g.48878158dup g.48304022dup - - RB1_000492 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
?/? 1 c.116del r.(?) p.(Pro39Argfs*26) - VUS g.48878164del g.48304028del 115delC - RB1_001460 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
+/+ 1 c.118G>T r.(?) p.(Glu40*) - pathogenic g.48878166G>T g.48304030G>T - - RB1_001141 - data copied from the RB1-LSDB - - SUMMARY record - - - 0 - Dietmar Lohmann
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »