All transcript variants in gene FRAS1

Information The variants shown are described using the NM_025074.6 transcript reference sequence.

477 entries on 5 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. - c.-23C>T benign r.(?) p.(=) g.78979141C>T - FRAS1(NM_025074.6):c.-23C>T - FRAS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.76+30_76+35dup benign r.(=) p.(=) g.78979269_78979274dup - FRAS1(NM_025074.6):c.76+27_76+32dupGTGTGT - FRAS1_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.76+34_76+35dup benign r.(=) p.(=) g.78979273_78979274dup - FRAS1(NM_025074.6):c.76+33_76+34dupGT - FRAS1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.76+36C>T benign r.(=) p.(=) g.78979275C>T - FRAS1(NM_025074.6):c.76+36C>T - FRAS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.76+36_76+37del likely benign r.(=) p.(=) g.78979275_78979276del - FRAS1(NM_025074.6):c.76+36_76+37delCG - FRAS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.95A>G benign r.(?) p.(Asp32Gly) g.78987157A>G - FRAS1(NM_025074.6):c.95A>G (p.D32G) - FRAS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.95A>G benign r.(?) p.(Asp32Gly) g.78987157A>G - FRAS1(NM_025074.6):c.95A>G (p.D32G) - FRAS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.107C>T likely benign r.(?) p.(Ala36Val) g.78987169C>T - FRAS1(NM_025074.6):c.107C>T (p.A36V) - FRAS1_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.108+2T>C pathogenic r.spl? p.? g.78987172T>C - FRAS1(NM_025074.6):c.108+2T>C - FRAS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.108+114A>C benign r.(=) p.(=) g.78987284A>C - FRAS1(NM_025074.6):c.108+114A>C - FRAS1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.108+115C>A benign r.(=) p.(=) g.78987285C>A - FRAS1(NM_025074.6):c.108+115C>A - FRAS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.108+158A>G benign r.(=) p.(=) g.78987328A>G - FRAS1(NM_025074.6):c.108+158A>G - FRAS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.108+2460G>A benign r.(=) p.(=) g.78989630G>A - FRAS1(NM_025074.6):c.108+2460G>A - FRAS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.108+2502G>C benign r.(=) p.(=) g.78989672G>C - FRAS1(NM_025074.6):c.108+2502G>C - FRAS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.108+2546T>C benign r.(=) p.(=) g.78989716T>C - FRAS1(NM_025074.6):c.108+2546T>C - FRAS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.108+2546T>C benign r.(=) p.(=) g.78989716T>C - FRAS1(NM_025074.6):c.108+2546T>C - FRAS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.108+2672G>A benign r.(=) p.(=) g.78989842G>A - FRAS1(NM_025074.6):c.108+2672G>A - FRAS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.108+2769G>A benign r.(=) p.(=) g.78989939G>A - FRAS1(NM_025074.6):c.108+2769G>A - FRAS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.109-32879C>T benign r.(=) p.(=) g.79125785C>T - FRAS1(NM_025074.6):c.109-32879C>T - FRAS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.160G>C benign r.(?) p.(Asp54His) g.79158715G>C - FRAS1(NM_025074.6):c.160G>C (p.D54H) - FRAS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.160G>C benign r.(?) p.(Asp54His) g.79158715G>C - FRAS1(NM_025074.6):c.160G>C (p.D54H) - FRAS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.160G>C likely benign r.(?) p.(Asp54His) g.79158715G>C - FRAS1(NM_025074.6):c.160G>C (p.D54H) - FRAS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.201A>G likely benign r.(?) p.(=) g.79158756A>G - FRAS1(NM_025074.6):c.201A>G (p.Q67=) - FRAS1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.216+72G>T benign r.(=) p.(=) g.79158843G>T - FRAS1(NM_025074.6):c.216+72G>T - FRAS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.308A>T benign r.(?) p.(Glu103Val) g.79166478A>T - FRAS1(NM_025074.6):c.308A>T (p.E103V) - FRAS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.308A>T likely benign r.(?) p.(Glu103Val) g.79166478A>T - FRAS1(NM_025074.6):c.308A>T (p.E103V) - FRAS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.309+89T>G benign r.(=) p.(=) g.79166568T>G - FRAS1(NM_025074.6):c.309+89T>G - FRAS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.310-21T>C benign r.(=) p.(=) g.79173525T>C - FRAS1(NM_025074.6):c.310-21T>C - FRAS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.310-20del benign r.(=) p.(=) g.79173526del - FRAS1(NM_025074.6):c.310-20delT - FRAS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.337T>C VUS r.(?) p.(Cys113Arg) g.79173573T>C - FRAS1(NM_001166133.1):c.337T>C (p.(Cys113Arg)) - FRAS1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.370C>T pathogenic r.(?) p.(Arg124*) g.79173606C>T - FRAS1(NM_025074.6):c.370C>T (p.R124*) - FRAS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.380C>G benign r.(?) p.(Pro127Arg) g.79173616C>G - FRAS1(NM_025074.6):c.380C>G (p.P127R) - FRAS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.380C>G benign r.(?) p.(Pro127Arg) g.79173616C>G - FRAS1(NM_025074.6):c.380C>G (p.P127R) - FRAS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.380C>G likely benign r.(?) p.(Pro127Arg) g.79173616C>G - FRAS1(NM_025074.6):c.380C>G (p.P127R) - FRAS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.469A>T likely pathogenic r.(?) p.(Lys157*) g.79173705A>T - FRAS1(NM_001166133.1):c.469A>T (p.(Lys157Ter)) - FRAS1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.470-151G>A benign r.(=) p.(=) g.79176245G>A - FRAS1(NM_025074.6):c.470-151G>A - FRAS1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.470-71C>T benign r.(=) p.(=) g.79176325C>T - FRAS1(NM_025074.6):c.470-71C>T - FRAS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.470-35T>C benign r.(=) p.(=) g.79176361T>C - FRAS1(NM_025074.6):c.470-35T>C - FRAS1_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.518G>A benign r.(?) p.(Arg173Gln) g.79176444G>A - FRAS1(NM_025074.6):c.518G>A (p.R173Q) - FRAS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.518G>A likely benign r.(?) p.(Arg173Gln) g.79176444G>A - FRAS1(NM_025074.6):c.518G>A (p.R173Q) - FRAS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.527G>A likely benign r.(?) p.(Arg176Gln) g.79176453G>A - FRAS1(NM_001166133.1):c.527G>A (p.(Arg176Gln)) - FRAS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.527G>A likely benign r.(?) p.(Arg176Gln) g.79176453G>A - FRAS1(NM_001166133.1):c.527G>A (p.(Arg176Gln)) - FRAS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.539G>T VUS r.(?) p.(Cys180Phe) g.79176465G>T - FRAS1(NM_025074.6):c.539G>T (p.C180F) - FRAS1_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.572C>T benign r.(?) p.(Thr191Ile) g.79176498C>T - FRAS1(NM_025074.6):c.572C>T (p.T191I) - FRAS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.603+2T>A pathogenic r.spl? p.? g.79176531T>A - FRAS1(NM_025074.6):c.603+2T>A - FRAS1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.604-132G>A benign r.(=) p.(=) g.79186047G>A - FRAS1(NM_025074.6):c.604-132G>A - FRAS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.604-132G>A benign r.(=) p.(=) g.79186047G>A - FRAS1(NM_025074.6):c.604-132G>A - FRAS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.604-8G>A benign r.(=) p.(=) g.79186171G>A - FRAS1(NM_025074.6):c.604-8G>A - FRAS1_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.604-8G>A benign r.(=) p.(=) g.79186171G>A - FRAS1(NM_025074.6):c.604-8G>A - FRAS1_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.641C>T VUS r.(?) p.(Pro214Leu) g.79186216C>T - FRAS1(NM_025074.6):c.641C>T (p.P214L) - FRAS1_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.687+69C>T benign r.(=) p.(=) g.79186331C>T - FRAS1(NM_025074.6):c.687+69C>T - FRAS1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.687+122A>G benign r.(=) p.(=) g.79186384A>G - FRAS1(NM_025074.6):c.687+122A>G - FRAS1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.687+127A>G benign r.(=) p.(=) g.79186389A>G - FRAS1(NM_025074.6):c.687+127A>G - FRAS1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.688-156G>A benign r.(=) p.(=) g.79187832G>A - FRAS1(NM_025074.6):c.688-156G>A - FRAS1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.688-88T>G benign r.(=) p.(=) g.79187900T>G - FRAS1(NM_025074.6):c.688-88T>G - FRAS1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.688-5T>G VUS r.spl? p.? g.79187983T>G - FRAS1(NM_025074.6):c.688-5T>G - FRAS1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.706G>A likely benign r.(?) p.(Glu236Lys) g.79188006G>A - FRAS1(NM_025074.6):c.706G>A (p.E236K) - FRAS1_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.727A>G likely benign r.(?) p.(Ile243Val) g.79188027A>G - FRAS1(NM_001166133.1):c.727A>G (p.(Ile243Val)) - FRAS1_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.776T>G likely benign r.(?) p.(Leu259Arg) g.79188076T>G - FRAS1(NM_025074.6):c.776T>G (p.L259R) - FRAS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.776T>G benign r.(?) p.(Leu259Arg) g.79188076T>G - FRAS1(NM_025074.6):c.776T>G (p.L259R) - FRAS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.776T>G likely benign r.(?) p.(Leu259Arg) g.79188076T>G - FRAS1(NM_025074.6):c.776T>G (p.L259R) - FRAS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.789+7G>A likely benign r.(=) p.(=) g.79188096G>A - FRAS1(NM_025074.6):c.789+7G>A - FRAS1_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.789+12T>G likely benign r.(=) p.(=) g.79188101T>G - FRAS1(NM_025074.6):c.789+12T>G - FRAS1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.789+71C>T benign r.(=) p.(=) g.79188160C>T - FRAS1(NM_025074.6):c.789+71C>T - FRAS1_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.789+72G>A benign r.(=) p.(=) g.79188161G>A - FRAS1(NM_025074.6):c.789+72G>A - FRAS1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.842C>T likely benign r.(?) p.(Pro281Leu) g.79188447C>T - FRAS1(NM_001166133.1):c.842C>T (p.(Pro281Leu)) - FRAS1_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.847G>A likely benign r.(?) p.(Gly283Arg) g.79188452G>A - FRAS1(NM_001166133.1):c.847G>A (p.(Gly283Arg)) - FRAS1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.886G>A VUS r.(?) p.(Glu296Lys) g.79188491G>A - FRAS1(NM_025074.6):c.886G>A (p.E296K) - FRAS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.886G>A VUS r.(?) p.(Glu296Lys) g.79188491G>A - FRAS1(NM_025074.6):c.886G>A (p.E296K) - FRAS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.886G>A likely benign r.(?) p.(Glu296Lys) g.79188491G>A - FRAS1(NM_025074.6):c.886G>A (p.E296K) - FRAS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.934C>T pathogenic r.(?) p.(Gln312*) g.79188539C>T - FRAS1(NM_025074.6):c.934C>T (p.Q312*) - FRAS1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.969G>A likely benign r.(?) p.(=) g.79188574G>A - FRAS1(NM_025074.6):c.969G>A (p.V323=) - FRAS1_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.979C>T benign r.(?) p.(Arg327Trp) g.79188584C>T - FRAS1(NM_025074.6):c.979C>T (p.R327W) - FRAS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.979C>T likely benign r.(?) p.(Arg327Trp) g.79188584C>T - FRAS1(NM_025074.6):c.979C>T (p.R327W) - FRAS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.981+9C>T benign r.(=) p.(=) g.79188595C>T - FRAS1(NM_025074.6):c.981+9C>T - FRAS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1071+40A>T likely benign r.(=) p.(=) g.79199938A>T - FRAS1(NM_025074.6):c.1071+40A>T - FRAS1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1072-66A>G benign r.(=) p.(=) g.79202486A>G - FRAS1(NM_025074.6):c.1072-66A>G - FRAS1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1072-5C>T likely benign r.spl? p.? g.79202547C>T - FRAS1(NM_001166133.1):c.1072-5C>T (p.?) - FRAS1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1072-5C>T likely benign r.spl? p.? g.79202547C>T - FRAS1(NM_001166133.1):c.1072-5C>T (p.?) - FRAS1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1093G>T VUS r.(?) p.(Val365Phe) g.79202573G>T - FRAS1(NM_001166133.1):c.1093G>T (p.(Val365Phe)) - FRAS1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1107+192G>A benign r.(=) p.(=) g.79202779G>A - FRAS1(NM_025074.6):c.1107+192G>A - FRAS1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1108-204del benign r.(=) p.(=) g.79203770del - FRAS1(NM_025074.6):c.1108-204delA - FRAS1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1108-8T>C likely benign r.(=) p.(=) g.79203966T>C - FRAS1(NM_025074.6):c.1108-8T>C - FRAS1_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1142T>C likely benign r.(?) p.(Val381Ala) g.79204008T>C - FRAS1(NM_001166133.1):c.1142T>C (p.(Val381Ala)) - FRAS1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1153C>T VUS r.(?) p.(Arg385*) g.79204019C>T - FRAS1(NM_025074.6):c.1153C>T (p.R385*) - FRAS1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1255+88C>T benign r.(=) p.(=) g.79204209C>T - FRAS1(NM_025074.6):c.1255+88C>T - FRAS1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1256-124C>T benign r.(=) p.(=) g.79205435C>T - FRAS1(NM_025074.6):c.1256-124C>T - FRAS1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1270G>C VUS r.(?) p.(Asp424His) g.79205573G>C - FRAS1(NM_001166133.1):c.1270G>C (p.(Asp424His)) - FRAS1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1286C>A likely benign r.(?) p.(Ser429Tyr) g.79205589C>A - FRAS1(NM_001166133.1):c.1286C>A (p.(Ser429Tyr)) - FRAS1_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1333C>T likely benign r.(?) p.(=) g.79205636C>T - FRAS1(NM_025074.6):c.1333C>T (p.L445=) - FRAS1_000314 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1396T>A benign r.(?) p.(Leu466Ile) g.79205699T>A - FRAS1(NM_025074.6):c.1396T>A (p.L466I) - FRAS1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1396T>A benign r.(?) p.(Leu466Ile) g.79205699T>A - FRAS1(NM_025074.6):c.1396T>A (p.L466I) - FRAS1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1399+6G>T likely benign r.(=) p.(=) g.79205708G>T - FRAS1(NM_025074.6):c.1399+6G>T - FRAS1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1399+45A>G benign r.(=) p.(=) g.79205747A>G - FRAS1(NM_025074.6):c.1399+45A>G - FRAS1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1486G>T VUS r.(?) p.(Val496Leu) g.79207645G>T - FRAS1(NM_001166133.1):c.1486G>T (p.(Val496Leu)) - FRAS1_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1534+91G>T benign r.(=) p.(=) g.79207784G>T - FRAS1(NM_025074.6):c.1534+91G>T - FRAS1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1571C>G likely benign r.(?) p.(Thr524Arg) g.79229256C>G - FRAS1(NM_001166133.1):c.1571C>G (p.(Thr524Arg)) - FRAS1_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1590C>T likely benign r.(?) p.(=) g.79229275C>T - FRAS1(NM_025074.6):c.1590C>T (p.A530=) - FRAS1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1609G>A benign r.(?) p.(Val537Met) g.79229294G>A - FRAS1(NM_025074.6):c.1609G>A (p.V537M) - FRAS1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1617A>G benign r.(?) p.(=) g.79229302A>G - FRAS1(NM_025074.6):c.1617A>G (p.R539=) - FRAS1_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend   « First ‹ Prev     1 2 3 4 5     Next › Last »