All variants in the NIN gene

Information The variants shown are described using the NM_182946.1 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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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.65C>T r.(?) p.(Thr22Met) - VUS g.51288710G>A - NIN(NM_016350.4):c.65C>T (p.(Thr22Met)) - NIN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.398C>T r.(?) p.(Ala133Val) - VUS g.51259467G>A g.50792749G>A NIN(NM_020921.3):c.398C>T (p.A133V) - NIN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.436-5T>C r.spl? p.? - likely benign g.51245527A>G - NIN(NM_016350.4):c.436-5T>C (p.?) - NIN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.475+9C>T r.(=) p.(=) - likely benign g.51245474G>A g.50778756G>A NIN(NM_020921.3):c.475+9C>T - NIN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.612G>A r.(?) p.(Arg204=) - likely benign g.51243721C>T g.50777003C>T NIN(NM_020921.3):c.612G>A (p.R204=) - NIN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.667-5T>C r.spl? p.? - likely benign g.51239818A>G - NIN(NM_020921.4):c.667-5T>C - NIN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.813+1G>C r.spl? p.? - VUS g.51239666C>G - NIN(NM_020921.3):c.813+1G>C (p.?) - NIN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.926G>C r.(?) p.(Arg309Thr) - likely benign g.51239074C>G - NIN(NM_020921.3):c.926G>C (p.R309T) - NIN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.933G>C r.(?) p.(Leu311=) - benign g.51239067C>G g.50772349C>G NIN(NM_020921.4):c.933G>C (p.L311=) - NIN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1002T>A r.(?) p.(Asp334Glu) - VUS g.51238166A>T - NIN(NM_020921.3):c.1002T>A (p.D334E) - NIN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1074C>T r.(?) p.(His358=) - likely benign g.51238094G>A g.50771376G>A NIN(NM_016350.4):c.1074C>T (p.(=)) - NIN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1381A>T r.(?) p.(Lys461*) - likely pathogenic g.51237159T>A - NIN(NM_016350.4):c.1381A>T (p.(Lys461Ter)) - NIN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1434+4A>C r.spl? p.? - likely benign g.51237102T>G - NIN(NM_020921.3):c.1434+4A>C - NIN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1595G>T r.(?) p.(Arg532Ile) - VUS g.51233065C>A - NIN(NM_020921.4):c.1595G>T (p.(Arg532Ile)) - NIN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1736_1738del r.(?) p.(Glu579del) - VUS g.51230585_51230587del - NIN(NM_020921.3):c.1736_1738delAAG (p.E579del) - NIN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1737A>C r.(?) p.(Glu579Asp) - VUS g.51230581T>G g.50763863T>G NIN(NM_020921.3):c.1737A>C (p.E579D), NIN(NM_020921.4):c.1737A>C (p.(Glu579Asp)) - NIN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1737A>C r.(?) p.(Glu579Asp) - VUS g.51230581T>G - NIN(NM_020921.3):c.1737A>C (p.E579D), NIN(NM_020921.4):c.1737A>C (p.(Glu579Asp)) - NIN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1827G>C r.(?) p.(Leu609=) - likely benign g.51228577C>G - NIN(NM_020921.3):c.1827G>C (p.L609=) - NIN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1900C>T r.(?) p.(Arg634Cys) - likely benign g.51227074G>A g.50760356G>A NIN(NM_020921.3):c.1900C>T (p.R634C) - NIN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1930G>A r.(?) p.(Val644Met) - likely benign g.51227044C>T g.50760326C>T NIN(NM_020921.3):c.1930G>A (p.V644M) - NIN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2041G>A r.(?) p.(Gly681Arg) - VUS g.51226933C>T g.50760215C>T NIN(NM_020921.3):c.2041G>A (p.G681R) - NIN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2072A>G r.(?) p.(His691Arg) - benign g.51226902T>C g.50760184T>C NIN(NM_020921.3):c.2072A>G (p.H691R) - NIN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2476A>G r.(?) p.(Thr826Ala) - likely benign g.51225272T>C g.50758554T>C NIN(NM_020921.3):c.2476A>G (p.T826A, p.(Thr826Ala)) - NIN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2476A>G r.(?) p.(Thr826Ala) - likely benign g.51225272T>C - NIN(NM_020921.3):c.2476A>G (p.T826A, p.(Thr826Ala)) - NIN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2609C>T r.(?) p.(Ala870Val) - likely benign g.51225139G>A g.50758421G>A NIN(NM_020921.3):c.2609C>T (p.A870V) - NIN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2647_2650del r.(?) p.(Glu883Lysfs*7) - VUS g.51225103_51225106del - NIN(NM_020921.4):c.2647_2650del (p.(Glu883Lysfs*7)) - NIN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2651A>G r.(?) p.(Lys884Arg) - likely benign g.51225097T>C g.50758379T>C NIN(NM_020921.3):c.2651A>G (p.(Lys884Arg)) - NIN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2785C>A r.(?) p.(Gln929Lys) - VUS g.51224963G>T g.50758245G>T NIN(NM_020921.3):c.2785C>A (p.Q929K) - NIN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2899C>T r.(?) p.(Gln967*) - VUS g.51224849G>A - NIN(NM_020921.4):c.2899C>T (p.(Gln967*)) - NIN_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2987C>T r.(?) p.(Ala996Val) - likely benign g.51224761G>A g.50758043G>A NIN(NM_020921.3):c.2987C>T (p.(Ala996Val)) - NIN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2988G>A r.(?) p.(Ala996=) - benign g.51224760C>T g.50758042C>T NIN(NM_020921.3):c.2988G>A (p.A996=) - NIN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3083_3085del r.(?) p.(Pro1028del) - VUS g.51224666_51224668del g.50757948_50757950del NIN(NM_020921.3):c.3083_3085delCTC (p.P1028del) - NIN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3196G>A r.(?) p.(Val1066Ile) - VUS g.51224552C>T g.50757834C>T - - NIN_000043 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143976273 Germline - 3/2795 individuals - - - Mohammed Faruq
-?/. - c.3197T>A r.(?) p.(Val1066Asp) - likely benign g.51224551A>T g.50757833A>T NIN(NM_020921.3):c.3197T>A (p.V1066D, p.(Val1066Asp)) - NIN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3197T>A r.(?) p.(Val1066Asp) - VUS g.51224551A>T - NIN(NM_020921.3):c.3197T>A (p.V1066D, p.(Val1066Asp)) - NIN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3317_3319del r.(?) p.(Ser1106del) - VUS g.51224433_51224435del - NIN(NM_020921.3):c.3317_3319delCTT (p.(Ser1106del)) - NIN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3331C>G r.(?) p.(Pro1111Ala) - benign g.51224417G>C g.50757699G>C NIN(NM_020921.4):c.3331C>G (p.P1111A) - NIN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3374= r.(=) p.(Pro1125=) - benign g.51224374T>G g.50757656T>G NIN(NM_020921.4):c.3374A>C (p.Q1125P) - NIN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.3392G>A r.(?) p.(Arg1131Gln) - likely benign g.51224356C>T - NIN(NM_020921.3):c.3392G>A (p.(Arg1131Gln)) - NIN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3454G>T r.(?) p.(Val1152Phe) - benign g.51224294C>A - NIN(NM_020921.3):c.3454G>T (p.(Val1152Phe)) - NIN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3487G>C r.(?) p.(Val1163Leu) - likely benign g.51224261C>G g.50757543C>G NIN(NM_020921.3):c.3487G>C (p.V1163L, p.(Val1163Leu)) - NIN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3487G>C r.(?) p.(Val1163Leu) - likely benign g.51224261C>G - NIN(NM_020921.3):c.3487G>C (p.V1163L, p.(Val1163Leu)) - NIN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3499G>A r.(?) p.(Glu1167Lys) - likely benign g.51224249C>T g.50757531C>T NIN(NM_020921.3):c.3499G>A (p.E1167K) - NIN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3532G>A r.(?) p.(Glu1178Lys) - VUS g.51224216C>T g.50757498C>T NIN(NM_020921.3):c.3532G>A (p.E1178K) - NIN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3611A>G r.(?) p.(Gln1204Arg) - likely benign g.51224137T>C - NIN(NM_020921.3):c.3611A>G (p.(Gln1204Arg)) - NIN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3647G>A r.(?) p.(Arg1216Gln) - likely benign g.51224101C>T - NIN(NM_020921.3):c.3647G>A (p.R1216Q, p.(Arg1216Gln)) - NIN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3647G>A r.(?) p.(Arg1216Gln) - likely benign g.51224101C>T - NIN(NM_020921.3):c.3647G>A (p.R1216Q, p.(Arg1216Gln)) - NIN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3959= r.(=) p.(Glu1320=) - benign g.51223789C>T g.50757071C>T NIN(NM_020921.4):c.3959G>A (p.G1320E) - NIN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4014C>T r.(?) p.(Ser1338=) - likely benign g.51223734G>A g.50757016G>A NIN(NM_020921.3):c.4014C>T (p.S1338=) - NIN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4144C>G r.(?) p.(His1382Asp) - likely benign g.51223604G>C - NIN(NM_016350.4):c.2400-2019C>G (p.(=)) - NIN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4288A>T r.(?) p.(Ile1430Leu) - likely benign g.51223460T>A - NIN(NM_020921.3):c.4288A>T (p.(Ile1430Leu)) - NIN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4356A>G r.(?) p.(Ala1452=) - likely benign g.51223392T>C g.50756674T>C NIN(NM_020921.3):c.4356A>G (p.A1452=) - NIN_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4395T>C r.(?) p.(Thr1465=) - benign g.51223353A>G g.50756635A>G NIN(NM_020921.3):c.4395T>C (p.T1465=) - NIN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4581A>T r.(?) p.(Arg1527Ser) - VUS g.51221543T>A - NIN(NM_020921.3):c.4581A>T (p.(Arg1527Ser)) - NIN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4628A>T r.(?) p.(Lys1543Ile) - VUS g.51221496T>A - NIN(NM_020921.3):c.4628A>T (p.K1543I) - NIN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4664+4A>G r.spl? p.? - VUS g.51221456T>C g.50754738T>C NIN(NM_020921.3):c.4664+4A>G - NIN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4763A>T r.(?) p.(Gln1588Leu) - VUS g.51219423T>A - NIN(NM_020921.3):c.4763A>T (p.Q1588L) - NIN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4837C>T r.(?) p.(Arg1613Cys) - likely benign g.51219349G>A g.50752631G>A NIN(NM_016350.4):c.2698C>T (p.(Arg900Cys)) - NIN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4837C>T r.(?) p.(Arg1613Cys) - likely benign g.51219349G>A g.50752631G>A - - NIN_000039 25 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61755995 Germline - 25/2795 individuals - - - Mohammed Faruq
-?/. - c.4838G>A r.(?) p.(Arg1613His) - likely benign g.51219348C>T - NIN(NM_016350.4):c.2699G>A (p.(Arg900His)) - NIN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4936C>T r.(?) p.(Arg1646Cys) - likely benign g.51219250G>A - NIN(NM_016350.4):c.2797C>T (p.(Arg933Cys)) - NIN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4937G>A r.(?) p.(Arg1646His) - likely benign g.51219249C>T g.50752531C>T NIN(NM_016350.4):c.2798G>A (p.(Arg933His)), NIN(NM_020921.3):c.4937G>A (p.R1646H) - NIN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.4937G>A r.(?) p.(Arg1646His) - likely benign g.51219249C>T g.50752531C>T NIN(NM_016350.4):c.2798G>A (p.(Arg933His)), NIN(NM_020921.3):c.4937G>A (p.R1646H) - NIN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4980G>A r.(?) p.(Ala1660=) - likely benign g.51214794C>T - NIN(NM_020921.3):c.4980G>A (p.A1660=) - NIN_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4990G>A r.(?) p.(Glu1664Lys) - VUS g.51214784C>T g.50748066C>T - - NIN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.5011A>G r.(?) p.(Ile1671Val) - benign g.51214763T>C - NIN(NM_016350.4):c.2872A>G (p.(Ile958Val)) - NIN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5188T>C r.(?) p.(Leu1730=) - likely benign g.51210247A>G - NIN(NM_016350.4):c.3049T>C (p.(=)) - NIN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.5302G>T r.(?) p.(Val1768Phe) - VUS g.51208446C>A - NIN(NM_020921.4):c.5302G>T (p.(Val1768Phe)) - NIN_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5351G>A r.(?) p.(Arg1784Gln) - likely benign g.51208397C>T - NIN(NM_016350.4):c.3212G>A (p.(Arg1071Gln)) - NIN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5509T>A r.(?) p.(Ser1837Thr) - likely benign g.51206145A>T g.50739427A>T NIN(NM_016350.4):c.3370T>A (p.(Ser1124Thr)) - NIN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5584A>G r.(?) p.(Met1862Val) - likely benign g.51206070T>C g.50739352T>C NIN(NM_016350.4):c.3445A>G (p.(Met1149Val)), NIN(NM_020921.3):c.5584A>G (p.M1862V) - NIN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5584A>G r.(?) p.(Met1862Val) - likely benign g.51206070T>C g.50739352T>C NIN(NM_016350.4):c.3445A>G (p.(Met1149Val)), NIN(NM_020921.3):c.5584A>G (p.M1862V) - NIN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5586G>A r.(?) p.(Met1862Ile) - likely benign g.51206068C>T g.50739350C>T NIN(NM_020921.3):c.5586G>A (p.M1862I) - NIN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5605G>A r.(?) p.(Glu1869Lys) - likely benign g.51206049C>T - NIN(NM_016350.4):c.3466G>A (p.(Glu1156Lys)) - NIN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.5628+5T>C r.spl? p.? - benign g.51206021A>G g.50739303A>G NIN(NM_020921.4):c.5628+5T>C - NIN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5629-5G>A r.spl? p.? - likely benign g.51205009C>T g.50738291C>T NIN(NM_020921.3):c.5629-5G>A - NIN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.5637G>A r.(?) p.(Gln1879=) - benign g.51204996C>T g.50738278C>T NIN(NM_020921.4):c.5637G>A (p.Q1879=) - NIN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.5877+3A>G r.spl? p.? - likely benign g.51202231T>C g.50735513T>C NIN(NM_020921.3):c.5877+3A>G - NIN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5903C>T r.(?) p.(Thr1968Met) - likely benign g.51196416G>A g.50729698G>A NIN(NM_016350.4):c.3764C>T (p.(Thr1255Met)) - NIN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.5912C>T r.(?) p.(Pro1971Leu) - VUS g.51196407G>A - NIN(NM_020921.3):c.5912C>T (p.P1971L) - NIN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.5913G>A r.(?) p.(Pro1971=) - likely benign g.51196406C>T - NIN(NM_020921.3):c.5913G>A (p.P1971=) - NIN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.5941C>T r.(?) p.(Leu1981Phe) - VUS g.51196378G>A - NIN(NM_016350.4):c.3802C>T (p.(Leu1268Phe)) - NIN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.5996G>A r.(?) p.(Arg1999His) - likely benign g.51196323C>T - NIN(NM_016350.4):c.3857G>A (p.(Arg1286His)) - NIN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.6068A>G r.(?) p.(Asn2023Ser) - likely benign g.51196251T>C - NIN(NM_016350.4):c.3929A>G (p.(Asn1310Ser)) - NIN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.6079-1679C>G r.(=) p.(=) - likely benign g.51194463G>C - NIN(NM_182944.2):c.6085C>G (p.(Leu2029Val)) - NIN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.6204C>T r.(?) p.(Pro2068=) - benign g.51192659G>A g.50725941G>A NIN(NM_182946.2):c.6204C>T (p.P2068=) - NIN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*2282C>T r.(=) p.(=) - VUS g.51190308G>A - NIN(NM_020921.3):c.6275C>T (p.T2092I) - NIN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*2350A>C r.(=) p.(=) - likely benign g.51190240T>G - NIN(NM_016350.4):c.*2350A>C (p.(=)) - NIN_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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