All variants in the PRF1 gene

Information The variants shown are described using the NM_005041.4 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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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     
-?/. - c.10C>T r.(?) p.(Arg4Cys) - likely benign g.72360649G>A g.70600893G>A PRF1(NM_001083116.1):c.10C>T (p.R4C) - PRF1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.11G>A r.(?) p.(Arg4His) - likely benign g.72360648C>T - PRF1(NM_001083116.1):c.11G>A (p.(Arg4His), p.R4H) - PRF1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.11G>A r.(?) p.(Arg4His) - likely benign g.72360648C>T - PRF1(NM_001083116.1):c.11G>A (p.(Arg4His), p.R4H) - PRF1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.50del r.(?) p.(Leu17Argfs*34) - pathogenic g.72360609del g.70600853del 50delT - PRF1_000018 - van Kuilenburg submitted - rs147035858 Germline yes - - - - André van Kuilenburg
+/. - c.50del r.(?) p.(Leu17Argfs*34) - pathogenic g.72360609del - PRF1(NM_001083116.1):c.50delT (p.L17Rfs*34) - PRF1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.65del r.(?) p.(Pro22Argfs*29) - pathogenic g.72360594del - 65delC - PRF1_000044 - - - - Germline - - - - - Sha Hong
?/. - c.82C>T r.(?) p.(Arg28Cys) - VUS g.72360577G>A g.70600821G>A PRF1(NM_001083116.1):c.82C>T (p.R28C) - PRF1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.96G>A r.(?) p.(Lys32=) - benign g.72360563C>T g.70600807C>T PRF1(NM_001083116.1):c.96G>A (p.K32=), PRF1(NM_005041.5):c.96G>A (p.K32=) - PRF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.96G>A r.(?) p.(Lys32=) - likely benign g.72360563C>T g.70600807C>T PRF1(NM_001083116.1):c.96G>A (p.K32=), PRF1(NM_005041.5):c.96G>A (p.K32=) - PRF1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.97C>T r.(?) p.(Arg33Cys) - VUS g.72360562G>A - PRF1(NM_001083116.1):c.97C>T (p.R33C) - PRF1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.111C>T r.(?) p.(Phe37=) - likely benign g.72360548G>A - PRF1(NM_001083116.1):c.111C>T (p.F37=) - PRF1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.260G>A r.(?) p.(Arg87His) - VUS g.72360399C>T g.70600643C>T PRF1(NM_001083116.1):c.260G>A (p.R87H), PRF1(NM_001083116.3):c.260G>A (p.R87H) - PRF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.260G>A r.(?) p.(Arg87His) - VUS g.72360399C>T - PRF1(NM_001083116.1):c.260G>A (p.R87H), PRF1(NM_001083116.3):c.260G>A (p.R87H) - PRF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.272C>T r.(?) p.(Ala91Val) - benign g.72360387G>A g.70600631G>A PRF1(NM_001083116.1):c.272C>T (p.(Ala91Val)), PRF1(NM_001083116.3):c.272C>T (p.A91V), PRF1(NM_005041.5):c.272C>T (p.A91V) - PRF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.272C>T r.(?) p.(Ala91Val) - benign g.72360387G>A g.70600631G>A PRF1(NM_001083116.1):c.272C>T (p.(Ala91Val)), PRF1(NM_001083116.3):c.272C>T (p.A91V), PRF1(NM_005041.5):c.272C>T (p.A91V) - PRF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.272C>T r.(?) p.(Ala91Val) - VUS g.72360387G>A g.70600631G>A - - PRF1_000012 conflicting interpretations of pathogenicity; 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35947132 Germline - 21/2791 individuals - - - Mohammed Faruq
?/. - c.272C>T r.(?) p.(Ala91Val) - VUS g.72360387G>A - PRF1(NM_001083116.1):c.272C>T (p.(Ala91Val)), PRF1(NM_001083116.3):c.272C>T (p.A91V), PRF1(NM_005041.5):c.272C>T (p.A91V) - PRF1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.355C>T r.(?) p.(Arg119Trp) - VUS g.72360304G>A g.70600548G>A PRF1(NM_001083116.1):c.355C>T (p.R119W) - PRF1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.368G>A r.(?) p.(Arg123His) - likely benign g.72360291C>T g.70600535C>T PRF1(NM_001083116.1):c.368G>A (p.R123H) - PRF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.368G>A r.(?) p.(Arg123His) - VUS g.72360291C>T - PRF1(NM_001083116.1):c.368G>A (p.R123H) - PRF1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.381C>T r.(?) p.(Asn127=) - likely benign g.72360278G>A - PRF1(NM_001083116.1):c.381C>T (p.N127=) - PRF1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.394G>A r.(?) p.(Gly132Arg) - pathogenic g.72360265C>T g.70600509C>T PRF1(NM_001083116.3):c.394G>A (p.G132R) - PRF1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.435G>A r.(=) p.(=) - benign g.72360224C>T g.70600468C>T - - PRF1_000042 32 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115281140 Germline - 32/2795 individuals - - - Mohammed Faruq
-/. - c.444C>T r.(?) p.(Ala148=) - benign g.72360215G>A g.70600459G>A PRF1(NM_001083116.1):c.444C>T (p.A148=) - PRF1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.445G>A r.(?) p.(Gly149Ser) - VUS g.72360214C>T g.70600458C>T PRF1(NM_001083116.1):c.445G>A (p.G149S) - PRF1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.445G>A r.(?) p.(Gly149Ser) ACMG pathogenic g.72360214C>T g.70600458C>T - - PRF1_000010 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - Johan den Dunnen
+/. - c.445G>A r.(?) p.(Gly149Ser) ACMG pathogenic g.72360214C>T g.70600458C>T - - PRF1_000010 - - 520942 rs147462227 Germline - - - - - Leticia Angélica Barraza Arellano
+/. - c.445G>A r.(?) p.(Gly149Ser) ACMG pathogenic g.72360214C>T g.70600458C>T - - PRF1_000010 - - 520942 rs147462227 Germline - - - - - Leticia Angélica Barraza Arellano
?/. - c.462A>G r.(=) p.(=) - VUS g.72360197T>C g.70600441T>C - - PRF1_000041 conflicting interpretations of pathogenicity; 32 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116554195 Germline - 32/2793 individuals - - - Mohammed Faruq
-?/. - c.489C>T r.(?) p.(His163=) - likely benign g.72360170G>A g.70600414G>A PRF1(NM_001083116.1):c.489C>T (p.H163=) - PRF1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.519G>A r.(?) p.(Thr173=) - likely benign g.72360140C>T g.70600384C>T PRF1(NM_001083116.1):c.519G>A (p.T173=) - PRF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.519G>A r.(?) p.(Thr173=) - likely benign g.72360140C>T - PRF1(NM_001083116.1):c.519G>A (p.T173=) - PRF1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.528C>T r.(?) p.(Cys176=) - likely benign g.72360131G>A g.70600375G>A PRF1(NM_001083116.1):c.528C>T (p.C176=), PRF1(NM_001083116.3):c.528C>T (p.C176=), PRF1(NM_005041.5):c.528C>T (p.C176=) - PRF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.528C>T r.(?) p.(Cys176=) - likely benign g.72360131G>A g.70600375G>A PRF1(NM_001083116.1):c.528C>T (p.C176=), PRF1(NM_001083116.3):c.528C>T (p.C176=), PRF1(NM_005041.5):c.528C>T (p.C176=) - PRF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.528C>T r.(?) p.(Cys176=) - likely benign g.72360131G>A - PRF1(NM_001083116.1):c.528C>T (p.C176=), PRF1(NM_001083116.3):c.528C>T (p.C176=), PRF1(NM_005041.5):c.528C>T (p.C176=) - PRF1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.540-4G>A r.spl? p.? - likely benign g.72358941C>T - PRF1(NM_001083116.1):c.540-4G>A - PRF1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.632C>T r.(?) p.(Ala211Val) - likely benign g.72358845G>A - PRF1(NM_001083116.1):c.632C>T (p.A211V) - PRF1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.640A>G r.(?) p.(Arg214Gly) - likely benign g.72358837T>C - PRF1(NM_001083116.1):c.640A>G (p.R214G) - PRF1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.658G>A r.(?) p.(Gly220Ser) - pathogenic g.72358819C>T g.70599063C>T - - PRF1_000040 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Johan den Dunnen
?/. - c.666C>A r.(?) p.(His222Gln) - VUS g.72358811G>T g.70599055G>T PRF1(NM_001083116.1):c.666C>A (p.H222Q) - PRF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.666C>A r.(?) p.(His222Gln) - VUS g.72358811G>T - PRF1(NM_001083116.1):c.666C>A (p.H222Q) - PRF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.673C>T r.(?) p.(Arg225Trp) - likely pathogenic g.72358804G>A g.70599048G>A - - PRF1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.673C>T r.(?) p.(Arg225Trp) - pathogenic g.72358804G>A g.70599048G>A - - PRF1_000030 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28933973 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. - c.674G>A r.(?) p.(Arg225Gln) - VUS g.72358803C>T - - - PRF1_000046 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.702G>A r.(?) p.(Ser234=) - likely benign g.72358775C>T - PRF1(NM_001083116.1):c.702G>A (p.S234=) - PRF1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.726C>T r.(?) p.(=) - likely benign g.72358751G>A - PRF1(NM_001083116.1):c.726C>T (p.C242=) - PRF1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.755A>G r.(?) p.(Asn252Ser) - benign g.72358722T>C g.70598966T>C PRF1(NM_001083116.1):c.755A>G (p.N252S), PRF1(NM_005041.5):c.755A>G (p.N252S) - PRF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.755A>G r.(?) p.(Asn252Ser) - likely benign g.72358722T>C g.70598966T>C PRF1(NM_001083116.1):c.755A>G (p.N252S), PRF1(NM_005041.5):c.755A>G (p.N252S) - PRF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.755A>G r.(?) p.(Asn252Ser) - VUS g.72358722T>C g.70598966T>C - - PRF1_000006 conflicting interpretations of pathogenicity; 31 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28933375 Germline - 31/2794 individuals - - - Mohammed Faruq
-?/. - c.755A>G r.(?) p.(Asn252Ser) - likely benign g.72358722T>C - PRF1(NM_001083116.1):c.755A>G (p.N252S), PRF1(NM_005041.5):c.755A>G (p.N252S) - PRF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.808_812del r.(?) p.(Gly270Hisfs*9) - pathogenic g.72358665_72358669del g.70598909_70598913del 808_812delGGCAG - PRF1_000039 - PubMed: Pronicka 2016 - - Germline - 1/113 cases - - - Johan den Dunnen
?/. - c.812_814del r.(?) p.(Ser271del) - VUS g.72358666_72358668del g.70598910_70598912del PRF1(NM_001083116.1):c.812_814delGCA (p.S271del) - PRF1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.822C>T r.(?) p.(Ala274=) - benign g.72358655G>A g.70598899G>A PRF1(NM_001083116.1):c.822C>T (p.A274=) - PRF1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.836G>A r.(?) p.(Cys279Tyr) - VUS g.72358641C>T g.70598885C>T PRF1(NM_001083116.1):c.836G>A (p.C279Y) - PRF1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.853_855del r.(?) p.(Lys285del) - pathogenic g.72358633_72358635del g.70598877_70598879del 853_855delAAG - PRF1_000017 - van Kuilenburg submitted - rs745902829 Germline yes - - - - André van Kuilenburg
+/. - c.853_855del r.(?) p.(Lys285del) - pathogenic g.72358633_72358635del g.70598877_70598879del PRF1(NM_001083116.1):c.853_855delAAG (p.K285del) - PRF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.853_855del r.(?) p.(Lys285del) - likely pathogenic g.72358633_72358635del - PRF1(NM_001083116.1):c.853_855delAAG (p.K285del) - PRF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.890G>C r.(?) p.(Arg297Pro) - likely benign g.72358587C>G g.70598831C>G PRF1(NM_001083116.1):c.890G>C (p.R297P) - PRF1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.900C>T r.(?) p.(His300=) - benign g.72358577G>A g.70598821G>A PRF1(NM_001083116.1):c.900C>T (p.H300=), PRF1(NM_001083116.3):c.900C>T (p.H300=) - PRF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.900C>T r.(?) p.(His300=) - benign g.72358577G>A g.70598821G>A PRF1(NM_001083116.1):c.900C>T (p.H300=), PRF1(NM_001083116.3):c.900C>T (p.H300=) - PRF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.900C>T r.(?) p.(His300=) - benign g.72358577G>A g.70598821G>A PRF1(NM_001083116.1):c.900C>T (p.H300=), PRF1(NM_001083116.3):c.900C>T (p.H300=) - PRF1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.903G>A r.(?) p.(Ser301=) - likely benign g.72358574C>T - PRF1(NM_001083116.1):c.903G>A (p.S301=) - PRF1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.945G>A r.(?) p.(Leu315=) - likely benign g.72358532C>T g.70598776C>T PRF1(NM_001083116.1):c.945G>A (p.L315=) - PRF1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.961G>A r.(?) p.(Gly321Arg) - VUS g.72358516C>T - PRF1(NM_001083116.3):c.961G>A (p.G321R) - PRF1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.963G>T r.(?) p.(Gly321=) - likely benign g.72358514C>A - PRF1(NM_001083116.1):c.963G>T (p.G321=) - PRF1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.966C>T r.(?) p.(Pro322=) - likely benign g.72358511G>A - PRF1(NM_001083116.1):c.966C>T (p.P322=) - PRF1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1001G>A r.(?) p.(Gly334Asp) - VUS g.72358476C>T g.70598720C>T - - PRF1_000066 - PubMed: Fevga 2022, Journal: Fevga 2022 - - Germline - - - - - Johan den Dunnen
+?/. - c.1018G>A r.(?) p.(Asp340Asn) - likely pathogenic g.72358459C>T g.70598703C>T - - PRF1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 c.1081A>T r.(?) p.(Arg361Trp) ACMG pathogenic g.72358396T>A g.70598640T>A - - PRF1_000061 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - Johan den Dunnen
?/. - c.1111A>G r.(?) p.(Arg371Gly) - VUS g.72358366T>C g.70598610T>C PRF1(NM_001083116.1):c.1111A>G (p.R371G) - PRF1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1122G>A r.(?) p.(Trp374Ter) - pathogenic g.72358355C>T g.70598599C>T PRF1(NM_001083116.1):c.1122G>A (p.W374*) - PRF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1122G>A r.(?) p.(Trp374Ter) - pathogenic g.72358355C>T g.70598599C>T PRF1(NM_001083116.1):c.1122G>A (p.W374*) - PRF1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1144C>T r.(?) p.(Pro382Ser) - VUS g.72358333G>A - PRF1(NM_001083116.3):c.1144C>T (p.(Pro382Ser), p.P382S) - PRF1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1144C>T r.(?) p.(Pro382Ser) - VUS g.72358333G>A - PRF1(NM_001083116.3):c.1144C>T (p.(Pro382Ser), p.P382S) - PRF1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1153C>T r.(?) p.(Arg385Trp) - VUS g.72358324G>A - - - PRF1_000019 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. - c.1212C>T r.(?) p.(Thr404=) - likely benign g.72358265G>A g.70598509G>A PRF1(NM_001083116.1):c.1212C>T (p.T404=) - PRF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1229G>C r.(?) p.(Arg410Pro) - VUS g.72358248C>G g.70598492C>G - - PRF1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1254G>A r.(?) p.(Glu418=) - likely benign g.72358223C>T - PRF1(NM_001083116.1):c.1254G>A (p.E418=) - PRF1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1298C>T r.(?) p.(Thr433Ile) - likely pathogenic g.72358179G>A - - - PRF1_000043 - - - - Germline - - - - - Sha Hong
-?/. - c.1305G>A r.(?) p.(Thr435=) - likely benign g.72358172C>T - PRF1(NM_001083116.1):c.1305G>A (p.T435=) - PRF1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1310C>T r.(?) p.(Ala437Val) - VUS g.72358167G>A g.70598411G>A PRF1(NM_001083116.1):c.1310C>T (p.A437V), PRF1(NM_001083116.3):c.1310C>T (p.A437V) - PRF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1310C>T r.(?) p.(Ala437Val) - VUS g.72358167G>A g.70598411G>A PRF1(NM_001083116.1):c.1310C>T (p.A437V), PRF1(NM_001083116.3):c.1310C>T (p.A437V) - PRF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1310C>T r.(?) p.(Ala437Val) - VUS g.72358167G>A - PRF1(NM_001083116.1):c.1310C>T (p.A437V), PRF1(NM_001083116.3):c.1310C>T (p.A437V) - PRF1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1349C>T r.(?) p.(Thr450Met) - pathogenic g.72358128G>A g.70598372G>A PRF1(NM_001083116.1):c.1349C>T (p.T450M) - PRF1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1349C>T r.(?) p.(Thr450Met) - likely pathogenic g.72358128G>A g.70598372G>A - - PRF1_000024 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs189650890 Germline - 3/2792 individuals - - - Mohammed Faruq
?/. - c.1357G>A r.(?) p.(Val453Met) - VUS g.72358120C>T g.70598364C>T PRF1(NM_001083116.1):c.1357G>A (p.V453M) - PRF1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1373A>C r.(?) p.(Asn458Thr) - VUS g.72358104T>G g.70598348T>G PRF1(NM_001083116.1):c.1373A>C (p.N458T) - PRF1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1444G>T r.(?) p.(Val482Phe) - VUS g.72358033C>A - PRF1(NM_001083116.1):c.1444G>T (p.(Val482Phe)) - PRF1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1470C>T r.(?) p.(Asp490=) - likely benign g.72358007G>A g.70598251G>A PRF1(NM_001083116.1):c.1470C>T (p.D490=) - PRF1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1471G>A r.(?) p.(Asp491Asn) - VUS g.72358006C>T g.70598250C>T PRF1(NM_001083116.1):c.1471G>A (p.D491N) - PRF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1501C>T r.(?) p.(Pro501Ser) - VUS g.72357976G>A - PRF1(NM_001083116.1):c.1501C>T (p.P501S) - PRF1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1562A>G r.(?) p.(Tyr521Cys) - VUS g.72357915T>C - PRF1(NM_001083116.1):c.1562A>G (p.Y521C) - PRF1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1620A>G r.(?) p.(Gln540=) - benign g.72357857T>C g.70598101T>C PRF1(NM_001083116.1):c.1620A>G (p.Q540=), PRF1(NM_005041.5):c.1620A>G (p.Q540=) - PRF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1620A>G r.(?) p.(Gln540=) - likely benign g.72357857T>C - PRF1(NM_001083116.1):c.1620A>G (p.Q540=), PRF1(NM_005041.5):c.1620A>G (p.Q540=) - PRF1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.*174T>C r.(=) p.(=) - benign g.72357635A>G g.70597879A>G PRF1(NM_005041.5):c.*174T>C - PRF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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