All transcript variants in gene SHROOM4

Information The variants shown are described using the NM_020717.3 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
Legend  

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.19T>G VUS r.(?) p.(Ser7Ala) g.50557000A>C - SHROOM4(NM_020717.3):c.19T>G (p.S7A) - SHROOM4_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.266G>A benign r.(?) p.(Arg89Lys) g.50438789C>T - SHROOM4(NM_020717.3):c.266G>A (p.R89K, p.(Arg89Lys)) - SHROOM4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.266G>A likely benign r.(?) p.(Arg89Lys) g.50438789C>T - SHROOM4(NM_020717.3):c.266G>A (p.R89K, p.(Arg89Lys)) - SHROOM4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.266G>A - r.(?) p.(Arg89Lys) g.50438789C>T - - - SHROOM4_000065 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.294G>A - r.(=) p.(=) g.50381284C>T - P98P - SHROOM4_000076 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.404+9A>G likely benign r.(=) p.(=) g.50381165T>C - SHROOM4(NM_020717.3):c.404+9A>G - SHROOM4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 3i c.404+457C>T - - p.(=) g.50380717G>A g.50637717G>A - - SHROOM4_000026 - - - - Germline - - - - - Yu Sun
?/. 3i c.405-455A>G - - p.(=) g.50379123T>C g.50636123T>C - - SHROOM4_000025 - - - - Germline - - - - - Yu Sun
?/. 3i c.405-124C>T - - p.(=) g.50378792G>A g.50635792G>A - - SHROOM4_000024 - - - - Germline - - - - - Yu Sun
?/. 3i c.405-123del - - p.(=) g.50378791del g.50635791del - - SHROOM4_000020 - - - - Germline - - - - - Yu Sun
-?/. - c.436C>T likely benign r.(?) p.(Arg146Trp) g.50378637G>A - SHROOM4(NM_020717.3):c.436C>T (p.R146W) - SHROOM4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.437G>A likely benign r.(?) p.(Arg146Gln) g.50378636C>T - SHROOM4(NM_020717.3):c.437G>A (p.R146Q) - SHROOM4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.450C>T - r.(=) p.(=) g.50378623G>A - T150T - SHROOM4_000075 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.451G>A VUS r.(?) p.(Glu151Lys) g.50378622C>T - SHROOM4(NM_020717.3):c.451G>A (p.E151K) - SHROOM4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.503C>T likely benign r.(?) p.(Ala168Val) g.50378570G>A - SHROOM4(NM_020717.3):c.503C>T (p.A168V) - SHROOM4_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.630G>T VUS r.(?) p.(Glu210Asp) g.50378443C>A - SHROOM4(NM_020717.3):c.630G>T (p.E210D) - SHROOM4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.689G>A likely benign r.(?) p.(Arg230Gln) g.50378384C>T - SHROOM4(NM_020717.3):c.689G>A (p.R230Q) - SHROOM4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.731A>G likely benign r.(?) p.(Asn244Ser) g.50378342T>C - SHROOM4(NM_020717.3):c.731A>G (p.N244S) - SHROOM4_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.839G>A likely benign r.(?) p.(Arg280Gln) g.50378234C>T - SHROOM4(NM_020717.3):c.839G>A (p.(Arg280Gln)) - SHROOM4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1053C>A VUS r.(?) p.(Ser351Arg) g.50378020G>T - SHROOM4(NM_020717.3):c.1053C>A (p.S351R, p.(Ser351Arg)) - SHROOM4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1053C>A likely benign r.(?) p.(Ser351Arg) g.50378020G>T - SHROOM4(NM_020717.3):c.1053C>A (p.S351R, p.(Ser351Arg)) - SHROOM4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1068G>T likely benign r.(?) p.(Glu356Asp) g.50378005C>A - SHROOM4(NM_020717.3):c.1068G>T (p.E356D) - SHROOM4_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1135G>A - r.(?) p.(Val379Met) g.50377938C>T - - - SHROOM4_000074 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.1229A>G VUS r.(?) p.(His410Arg) g.50377844T>C - SHROOM4(NM_020717.3):c.1229A>G (p.H410R) - SHROOM4_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 4 c.1315G>A - r.(?) p.(Val439Ile) g.50377758C>T g.50634758C>T - - SHROOM4_000013 - PubMed: Harel 2016, Journal: Harel 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1315G>A likely benign r.(?) p.(Val439Ile) g.50377758C>T - SHROOM4(NM_020717.3):c.1315G>A (p.V439I) - SHROOM4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1358G>A likely benign r.(?) p.(Ser453Asn) g.50377715C>T - SHROOM4(NM_020717.3):c.1358G>A (p.S453N) - SHROOM4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1387C>A likely benign r.(?) p.(Pro463Thr) g.50377686G>T - SHROOM4(NM_020717.3):c.1387C>A (p.P463T) - SHROOM4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1541G>T likely benign r.(?) p.(Arg514Ile) g.50377532C>A - SHROOM4(NM_020717.3):c.1541G>T (p.R514I) - SHROOM4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1568C>A likely benign r.(?) p.(Ala523Asp) g.50377505G>T - SHROOM4(NM_020717.3):c.1568C>A (p.A523D) - SHROOM4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1675G>A likely benign r.(?) p.(Glu559Lys) g.50377398C>T - SHROOM4(NM_020717.3):c.1675G>A (p.E559K) - SHROOM4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1879C>T benign r.(?) p.(Pro627Ser) g.50377194G>A - SHROOM4(NM_020717.3):c.1879C>T (p.P627S, p.(Pro627Ser)) - SHROOM4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1879C>T - r.(?) p.(Pro627Ser) g.50377194G>A - - - SHROOM4_000055 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.1879C>T likely benign r.(?) p.(Pro627Ser) g.50377194G>A - SHROOM4(NM_020717.3):c.1879C>T (p.P627S, p.(Pro627Ser)) - SHROOM4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1972A>G benign r.(?) p.(Met658Val) g.50377101T>C - SHROOM4(NM_020717.3):c.1972A>G (p.M658V, p.(Met658Val)) - SHROOM4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1972A>G likely benign r.(?) p.(Met658Val) g.50377101T>C - SHROOM4(NM_020717.3):c.1972A>G (p.M658V, p.(Met658Val)) - SHROOM4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2007C>A VUS r.(?) p.(Ser669Arg) g.50377066G>T - SHROOM4(NM_020717.3):c.2007C>A (p.S669R) - SHROOM4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2165G>A likely benign r.(?) p.(Arg722His) g.50376908C>T - SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)) - SHROOM4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2165G>A benign r.(?) p.(Arg722His) g.50376908C>T - SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)) - SHROOM4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2165G>A VUS r.(?) p.(Arg722His) g.50376908C>T - SHROOM4(NM_020717.3):c.2165G>A (p.R722H, p.(Arg722His)) - SHROOM4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.2173C>T benign r.(?) p.(His725Tyr) g.50376900G>A - SHROOM4(NM_020717.3):c.2173C>T (p.H725Y) - SHROOM4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2180G>A likely benign r.(?) p.(Arg727Lys) g.50376893C>T - SHROOM4(NM_020717.3):c.2180G>A (p.(Arg727Lys)) - SHROOM4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2181A>T VUS r.(?) p.(Arg727Ser) g.50376892T>A - SHROOM4(NM_020717.3):c.2181A>T (p.R727S) - SHROOM4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2192A>G likely benign r.(?) p.(Glu731Gly) g.50376881T>C - SHROOM4(NM_020717.3):c.2192A>G (p.E731G) - SHROOM4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2192A>G likely benign r.(?) p.(Glu731Gly) g.50376881T>C - SHROOM4(NM_020717.3):c.2192A>G (p.E731G) - SHROOM4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2228A>C likely benign r.(?) p.(Glu743Ala) g.50376845T>G - SHROOM4(NM_020717.3):c.2228A>C (p.E743A) - SHROOM4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2266G>A likely benign r.(?) p.(Ala756Thr) g.50376807C>T - SHROOM4(NM_020717.3):c.2266G>A (p.(Ala756Thr)) - SHROOM4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2339G>A likely benign r.(?) p.(Ser780Asn) g.50376734C>T - SHROOM4(NM_020717.3):c.2339G>A (p.S780N) - SHROOM4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2419A>G likely benign r.(?) p.(Ile807Val) g.50376654T>C - SHROOM4(NM_020717.3):c.2419A>G (p.(Ile807Val)) - SHROOM4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2669G>A - r.(?) p.(Cys890Tyr) g.50376404C>T - - - SHROOM4_000073 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.2713T>C likely benign r.(?) p.(Ser905Pro) g.50376360A>G - - - SHROOM4_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.2958-338A>G - - p.(=) g.50351522T>C g.50608522T>C - - SHROOM4_000019 - - - - Germline - - - - - Yu Sun
?/. - c.2958-338A>G - - p.(=) g.50351522T>C g.50608522T>C - - SHROOM4_000019 - - - - Germline - - - - - Yu Sun
-?/. - c.2983T>G likely benign r.(?) p.(Phe995Val) g.50351159A>C - SHROOM4(NM_020717.3):c.2983T>G (p.(Phe995Val)) - SHROOM4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3104A>C likely benign r.(?) p.(Glu1035Ala) g.50351038T>G - SHROOM4(NM_020717.3):c.3104A>C (p.E1035A) - SHROOM4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3141C>T likely benign r.(?) p.(=) g.50351001G>A - SHROOM4(NM_020717.3):c.3141C>T (p.A1047=) - SHROOM4_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3168T>C - r.(=) p.(=) g.50350974A>G - R1056R - SHROOM4_000072 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.3240C>A likely benign r.(?) p.(=) g.50350902G>T - SHROOM4(NM_020717.3):c.3240C>A (p.L1080=) - SHROOM4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3367C>G likely benign r.(?) p.(Gln1123Glu) g.50350775G>C - SHROOM4(NM_020717.3):c.3367C>G (p.Q1123E) - SHROOM4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 6 c.3373_3384dup - r.(?) p.(Gln1125_Gln1128dup) g.50350758_50350769dup - 3383_3383dup - SHROOM4_000069 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-/. - c.3413_3414insGG benign r.(?) p.(Glu1140Lysfs*42) g.50350728_50350729insCC - SHROOM4(NM_020717.3):c.3413_3414insGG (p.E1140Kfs*42) - SHROOM4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3413_3414insGG benign r.(?) p.(Glu1140Lysfs*42) g.50350728_50350729insCC - SHROOM4(NM_020717.3):c.3413_3414insGG (p.E1140Kfs*42) - SHROOM4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3415dup likely benign r.(?) p.(Glu1139Glyfs*39) g.50350727dup - SHROOM4(NM_020717.3):c.3415dupG (p.(Glu1139GlyfsTer39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39) - SHROOM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.3415dup benign r.(?) p.(Glu1139Glyfs*39) g.50350727dup - SHROOM4(NM_020717.3):c.3415dupG (p.(Glu1139GlyfsTer39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39) - SHROOM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.3415dup benign r.(?) p.(Glu1139Glyfs*39) g.50350727dup - SHROOM4(NM_020717.3):c.3415dupG (p.(Glu1139GlyfsTer39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39) - SHROOM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3415dup likely benign r.(?) p.(Glu1139Glyfs*39) g.50350727dup - SHROOM4(NM_020717.3):c.3415dupG (p.(Glu1139GlyfsTer39)), SHROOM4(NM_020717.3):c.3415dupG (p.E1139Gfs*39) - SHROOM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3416_3417insGGA VUS r.(?) p.(Glu1151dup) g.50350727_50350728insCTC - SHROOM4(NM_020717.3):c.3416_3417insGGA (p.(Glu1139dup)) - SHROOM4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3417A>G likely benign r.(?) p.(=) g.50350725T>C - SHROOM4(NM_020717.3):c.3417A>G (p.E1139=) - SHROOM4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3426_3428del VUS r.(?) p.(Glu1151del) g.50350728_50350730del - SHROOM4(NM_020717.3):c.3426_3428del (p.?) - SHROOM4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3468A>G - r.(=) p.(=) g.50350674T>C - E1156E - SHROOM4_000071 recurrent, found 51 times PubMed: Tarpey 2009 - - Germline - 51/208 cases - 0 - Lucy Raymond
-/. - c.3468_3470del benign r.(?) p.(Glu1158del) g.50350674_50350676del - SHROOM4(NM_020717.3):c.3468_3470delAGA (p.E1158del) - SHROOM4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3504C>T likely benign r.(?) p.(=) g.50350638G>A - SHROOM4(NM_020717.3):c.3504C>T (p.T1168=) - SHROOM4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3611A>G likely benign r.(?) p.(Glu1204Gly) g.50350531T>C - SHROOM4(NM_020717.3):c.3611A>G (p.(Glu1204Gly)) - SHROOM4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.3734C>T likely benign r.(?) p.(Ser1245Leu) g.50350408G>A - SHROOM4(NM_020717.3):c.3734C>T (p.(Ser1245Leu)) - SHROOM4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.3762-318G>A - - p.(=) g.50346131C>T g.50603131C>T - - SHROOM4_000015 - - - - Germline - - - - - Yu Sun
?/. - c.3762-318G>A - - p.(=) g.50346131C>T g.50603131C>T - - SHROOM4_000015 - - - - Germline - - - - - Yu Sun
-?/. - c.3899G>A likely benign r.(?) p.(Gly1300Asp) g.50345676C>T - SHROOM4(NM_020717.3):c.3899G>A (p.G1300D) - SHROOM4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3919G>A VUS r.(?) p.(Asp1307Asn) g.50345656C>T - SHROOM4(NM_020717.3):c.3919G>A (p.D1307N) - SHROOM4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.3943-140C>G - - p.(=) g.50341675G>C g.50598675G>C - - SHROOM4_000012 - - - - Germline - - - - - Yu Sun
?/. - c.3943-140C>G - - p.(=) g.50341675G>C g.50598675G>C - - SHROOM4_000012 - - - - Germline - - - - - Yu Sun
?/. - c.3943-63C>T - - p.(=) g.50341598G>A g.50598598G>A - - SHROOM4_000029 - - - - Germline - - - - - Yu Sun
?/. - c.3943-63C>T - - p.(=) g.50341598G>A g.50598598G>A - - SHROOM4_000029 - - - - Germline - - - - - Yu Sun
-?/. - c.3944T>C likely benign r.(?) p.(Ile1315Thr) g.50341534A>G - SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)) - SHROOM4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3944T>C likely benign r.(?) p.(Ile1315Thr) g.50341534A>G - SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)) - SHROOM4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3944T>C likely benign r.(?) p.(Ile1315Thr) g.50341534A>G - SHROOM4(NM_020717.3):c.3944T>C (p.I1315T, p.(Ile1315Thr)) - SHROOM4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3988G>A - r.(?) p.(Glu1330Lys) g.50341490C>T - - - SHROOM4_000070 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.4066G>A benign r.(?) p.(Val1356Ile) g.50341412C>T - SHROOM4(NM_020717.3):c.4066G>A (p.V1356I) - SHROOM4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.4101G>T likely benign r.(?) p.(Leu1367Phe) g.50341377C>A - SHROOM4(NM_020717.3):c.4101G>T (p.L1367F, p.(Leu1367Phe)) - SHROOM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.4101G>T - r.(?) p.(Leu1367Phe) g.50341377C>A - - - SHROOM4_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.4101G>T benign r.(?) p.(Leu1367Phe) g.50341377C>A - SHROOM4(NM_020717.3):c.4101G>T (p.L1367F, p.(Leu1367Phe)) - SHROOM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4114C>T likely benign r.(?) p.(=) g.50341364G>A - SHROOM4(NM_020717.3):c.4114C>T (p.L1372=) - SHROOM4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.4130A>C likely benign r.(?) p.(Asn1377Thr) g.50341348T>G - - - SHROOM4_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.4278G>A likely benign r.(?) p.(=) g.50339899C>T - SHROOM4(NM_020717.3):c.4278G>A (p.E1426=) - SHROOM4_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*3159dup - - p.(=) g.50336536dup g.50593536dup - - SHROOM4_000027 - - - - Germline - - - - - Yu Sun
?/. - c.*3159dup - - p.(=) g.50336536dup g.50593536dup - - SHROOM4_000027 - - - - Germline - - - - - Yu Sun
?/. - c.*3165_*3166insG - - p.(=) g.50336529_50336530insC g.50593529_50593530insC - - SHROOM4_000021 - - - - Germline - - - - - Yu Sun
?/. - c.*3165_*3166insG - - p.(=) g.50336529_50336530insC g.50593529_50593530insC - - SHROOM4_000021 - - - - Germline - - - - - Yu Sun
?/. - c.*3673T>A - - p.(=) g.50336022A>T g.50593022A>T - - SHROOM4_000017 - - - - Germline - - - - - Yu Sun
?/. - c.*3673T>A - - p.(=) g.50336022A>T g.50593022A>T - - SHROOM4_000017 - - - - Germline - - - - - Yu Sun
Legend