Unique variants in gene NPHS1

Information The variants shown are described using the NM_004646.3 transcript reference sequence.

146 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 1 00 c.-475_-468delGAGAGAGA - r.? p.? g.36343207_36343214delTCTCTCTC - promoter, nt-489(del(GA)4) - NPHS1_000012 1 North American CNF family (hom) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
?/? 1 00 c.-469_-468delGA - r.? p.? g.36343207_36343208delTC - promoter, nt-489(delGA) - NPHS1_000011 1 North African CNF family (hom) PubMed: Lenkkeri at al. 1999 rs139954720 SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 00 c.-340G>C - r.? p.? g.36343079C>G - nt340 (G→C): Promoter change - NPHS1_000010 2 English CNF patients (com-het) PubMed: Koziell et al. 2002 rs1137844 SUMMARY record yes - - - - Anne Polvi
./. 1 - c.? - r.? p.? g.? - c.3426A>G; p.T1182A - NPHS1_000138 1 more item PubMed: Abid et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 i01 c.58+1G>T - r.spl? p.? g.36342681C>A - c.58+1G>T: Splice error - NPHS1_000013 1 Indian CNF family (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+/+ 1 - c.106delG - r.(?) p.(Ala36Profs*6) g.36342527delC - - - NPHS1_000145 1 African patient (com-het) with probable CNF PubMed: Sabi et al. 2013 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 02 c.121_122delCT - r.(121_122delcu) p.(Leu41Aspfs*50) g.36342511_36342512delAG - 1 more item - NPHS1_000014 1 more item PubMed: Kestila et al. 1998,PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 1/83 FIN CON (h - - - Anne Polvi
+/+ 1 02 c.139delG - r.(139delg) p.(Ala47Profs*81) g.36342494delC - Ex2, c.139delG(h) = E46fsX127 - NPHS1_000015 3 Hispanic (com-het) and 1 African American (hom) CNF patient PubMed: Heeringa et al. 2008, PubMed: Ovunc et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 02 c.191G>C - r.(191g>c) p.(Trp64Ser) g.36342442C>G - exon 2 nt191(G>C): Trp64>Ser - NPHS1_000016 1 Finnish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 02 c.248dupA - r.(248dupa) p.(Tyr83*) g.36342385dup - 1 more item - NPHS1_000017 1 Italian CNF family PubMed: Gigante et al. 2005 - SUMMARY record yes 0/50 CON - - - Anne Polvi
+?/+? 1 03 c.286C>G - r.(286c>g) p.(Leu96Val) g.36342275G>C - c.286C>G: p.L96V - NPHS1_000018 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes 0/94 CON - - - Anne Polvi
+?/+? 1 03 c.313G>A - r.(313g>a) p.(Asp105Asn) g.36342248C>T - 313G>A: D105N - NPHS1_000019 2 Japanese CNF patients (com-het) PubMed: Sako et al. 2005 - SUMMARY record yes 0/200 JAP CON - - - Anne Polvi
+?/+? 1 03 c.319G>A - r.(319g>a) p.(Ala107Thr) g.36342242C>T - c.319G>A: p.A107T - NPHS1_000020 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes 0/94 CON - - - Anne Polvi
?/? 1 03 c.320C>T - r.(320c>u) p.(Ala107Val) g.36342241G>A - c.C320T: p.A107V - NPHS1_000021 2 Indian CNF patients (1 com-het and 1 het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
?/. 36 - c.349G>A - r.(?) p.(Glu117Lys) g.36342212C>T - - - NPHS1_000001 - - - Germline - - - - - Gerard C.P. Schaafsma
?/. 1 3 c.361G>A - r.(?) p.(Glu121Lys) g.36342200C>T - - - NPHS1_000147 - PubMed: Santín et al. 2009 - Germline - - - - - Elisabet Ars Criach
+?/+? 1 i03 c.398-1G>A - r.spl? p.? g.36341992C>T - 275–1G>A(h) = splice site - NPHS1_000022 1 European CNF patient (com-het) PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+/+ 2 04 c.468C>G - r.(468c>g), r.(?) p.(Tyr156*) g.36341921G>C - 468C>G: Y156X - NPHS1_000023 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Philippe et al. 2008, Bullich G et al, submitted - SUMMARY record, Germline yes - - - - Anne Polvi, Elisabet Ars Criach
+?/+? 1 04 c.479G>C - r.(479g>c) p.(Cys160Ser) g.36341910C>G - 479G>C: Cys160Ser - NPHS1_000024 1 Japanese CNF family (com-het) PubMed: Aya et al. 2009 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 04 c.500C>T - r.(500c>u) p.(Pro167Leu) g.36341889G>A - c.C500T: p.P167L - NPHS1_000025 1 Indian CNF family (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 04 c.512T>A - r.(512u>a) p.(Ile171Asn) g.36341877A>T - exon 4 nt512(T>A): Ile171>Asn - NPHS1_000026 1 Turkish CNF family (hom) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/. 1 4 c.515_517del - r.(?) p.(Thr172del) g.36341872_36341874del - - - NPHS1_000146 - PubMed: Santín et al. 2011 - Germline - - - - - Elisabet Ars Criach
+?/+? 1 04 c.515_517delCCA - r.(515_517delcca) p.(Thr172del) g.36341872_36341874delTGG - nt514(delACC): delT172; 513-5delCAC: del172T; c.514_516delACC: p.T172del - NPHS1_000027 1 more item 1 more item - SUMMARY record yes 0/93 CON - - - Anne Polvi
+/+ 1 04 c.516delC - r.(516delc) p.(Ile173Phefs*3) g.36341873delG - c.516delC: p.T712fs175X - NPHS1_000028 2 CNF patients (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 04 c.518T>A - r.(518u>a) p.(Ile173Asn) g.36341871A>T - exon 4 nt518(T>A): Ile173>Asn - NPHS1_000029 1 French CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 i04 c.526+5G>C - r.spl? p.? g.36341858C>G - intron 4, nt526+5(G>C): Splice-site mutation - NPHS1_000030 1 Swedish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 05 c.532C>T - r.(532c>u) p.(Gln178*) g.36341342G>A - 532C>T: Q178X - NPHS1_000031 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 05 c.534delG - r.(534delg) p.(Thr179Glnfs*9) g.36341340delC - exon 5, nt534(delG): frameshift and trunc. 180-res. protein - NPHS1_000032 1 North American CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 05 c.574C>T - r.(574c>u) p.(Gln192*) g.36341300G>A - c.C574T: p.Q193X - NPHS1_000033 1 Arabic CNF patient (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 i05 c.609-2A>C - r.spl? p.? g.36340557T>G - c.609-2A>C - NPHS1_000034 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 06 c.614_621delCACCCCGGinsTT - r.(614_621delcaccccgginsuu) p.(Thr205_Arg207delinsIle) g.36340543_36340550delinsAA - 1 more item - NPHS1_000035 1 more item 1 more item - SUMMARY record yes 0/93 CON - - - Anne Polvi
?/. 1 - c.658T>G - r.(?) p.(Ser220Ala) g.36340506A>C - - - NPHS1_000005 - - - Germline - - - - - Gerard C.P. Schaafsma
+/+ 1 06 c.661_662delAG - r.(661_662delag) p.(Ser221Profs*31) g.36340502_36340503delCT - nt661 (delAG): Frameshift and truncation - NPHS1_000036 1 English CNF patient (com-het) PubMed: Koziell et al. 2002 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 06 c.692C>A - r.(692c>a) p.(Ser231*) g.36340472G>T - 692C>A: S231X - NPHS1_000037 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 07 c.710T>C - r.(?) p.(Leu237Pro) g.36340454A>G - - - NPHS1_000136 1 early onset nephrotic syndrome patient from Pakistan (com-het) PubMed: Abid et al. 2012 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 07 c.736G>T - r.(736g>u) p.(Glu246*) g.36340242C>A - 736G>T: E246X - NPHS1_000038 3 Japanese CNF families (1 hom and 2 com-het)) PubMed: Sako et al. 2005, PubMed: Aya et al. 2009 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 07 c.766C>T - r.(766c>u) p.(Arg256Trp) g.36340212G>A - Ex7, c.767C>T(h) = R256W - NPHS1_000039 1 Arabic CNF patient (hom) PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - Anne Polvi
?/., +?/+? 7 7, 07 c.791C>G - r.(?), r.(791c>g) p.(Pro264Arg) g.36340187G>C - nt791 (C→G): P264R - NPHS1_000006 1 English/Indian CNF patient (com-het) PubMed: Koziell et al. 2002 rs34982899 Germline, SUMMARY record yes, - - - - - Inst.Human Genetics - Heidelberg, Gerard C.P. Schaafsma, Anne Polvi
+?/+? 1 07 c.808G>T - r.(808g>u) p.(Gly270Cys) g.36340170C>A - exon 7 nt808(G>T): Gly270>Cys - NPHS1_000041 1 English CNF family (com-het) and 1 English CNF patient (com-het) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 08 c.886G>A - c.886G>A p.(Ala296Thr) g.36340004C>T - c.G886A: p.W289X - NPHS1_000042 1 Turkish CNF patient (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 09 c.1019C>A - r.(1019c>a) p.(Pro340His) g.36339690G>T - c.C1019A: p.P340H - NPHS1_000043 1 Afghanistanian (hom) and 1 Asian (com-het) CNF patient (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 09 c.1040G>A - r.(1040g>a) p.(Gly347Glu) g.36339669C>T - c.G1040A: p.G347E - NPHS1_000044 1 Arabic CNF patient (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 09 c.1048T>C - r.(1048u>c) p.(Ser350Pro) g.36339661A>G - exon 9 nt1048(T>C): Ser350>Pro; c.T1048C: p.S350P - NPHS1_000045 1 French CNF family (com-het) and 1 Romanian CNF patient (com-het) PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 09 c.1096A>C - r.(1096a>c) p.(Ser366Arg) g.36339613T>G - exon 9 nt1096(A>C): Ser366>Arg; c.A1096C: p.S366R - NPHS1_000046 1 more item PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/., +?/+? 2 9, 09 c.1099C>T - r.(?), r.(1099c>u) p.(Arg367Cys) g.36339610G>A - exon 9 nt1099(C>T): Arg367>Cys; c.C1099T: p.R367C - NPHS1_000047 1 more item PubMed: Santín et al. 2009, 1 more item - Germline, SUMMARY record yes 0/93 CON - - - Elisabet Ars Criach, Anne Polvi
+?/+? 1 09 c.1100G>A - r.(1100g>a) p.(Arg367His) g.36339609C>T - 1100G>A: R367H - NPHS1_000048 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 09 c.1102C>T - r.(1102c>u) p.(Pro368Ser) g.36339607G>A - exon 9 nt1102 (C>T): Pro368>Ser - NPHS1_000049 1 Dutch CNF family (hom) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 09 c.1103C>T - r.(1103c>u) p.(Pro368Leu) g.36339606G>A - 1103C>T: P368L - NPHS1_000050 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 09 c.1126C>G - r.(1126c>g) p.(Leu376Val) g.36339583G>C - exon 9 nt1126 (C>G): Leu376>Val - NPHS1_000051 1 Dutch CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON 9 - - Anne Polvi
+/+ 1 09 c.1134G>A - r.(1134g>a) p.(Trp378*) g.36339575C>T - c.G1134A: p.W378X - NPHS1_000052 1 Arabic CNF family (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 09 c.1135C>T - r.(1135c>u) p.(Arg379Trp) g.36339574G>A - 1135C>T: R379W - NPHS1_000054 1 Japanese CNF patient (hom) and CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Aya et al. 2009 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.1135_1136delCG - r.(1135_1136delcg) p.(Arg379Alafs*39) g.36339573_36339574delCG - c.1134-1135delGC: p.R379fs417X - NPHS1_000053 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.1138C>T - r.(1138c>t) p.(Gln380*) g.36339571G>A - c.1138C>T:p.Gln380X - NPHS1_000055 4 CNF patients (2 hom and 2 com-het) in 2 large partly consangenous Arab-Muslim CNF families PubMed: Frishberg et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 i09 c.1170+2T>C - r.spl? p.? g.36339537A>G - - - NPHS1_000140 2 Tunisian siblings with CNF (hom) PubMed: Mbarek et al. 2011 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 10 c.1219C>T - r.(1219c>u) p.(Arg407Trp) g.36339251G>A - c.C1219T: p.R407W - NPHS1_000056 1 Jordanian CNF family (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
?/., +?/+? 14 10 c.1223G>A - r.(?), r.(1223g>a) p.(Arg408Gln) g.36339247C>T - exon 10 nt1223(G>A): Arg408>Gln; c.G1223A: c.R408Q - NPHS1_000003 1 more item PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 rs33950747 Germline, SUMMARY record yes 4/30 CON (het) - - - Gerard C.P. Schaafsma, Anne Polvi
+?/+? 1 10 c.1234G>T - r.(1234g>u) p.(Gly412Cys) g.36339236C>A - Ex10, c.1234G>T(h) = G412C - NPHS1_000058 1 Caucasian CNF family (com-het) PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 10 c.1250G>T - r.(1250g>u) p.(Cys417Phe) g.36339220C>A - 1250G>T: C417F - NPHS1_000059 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 10 c.1275delC - r.(1275delc) p.(Lys426Argfs*10) g.36339195delG - exon 10, nt1275(delC): frameshift and trunc. 435-res. protein - NPHS1_000060 1 North American CNF family (het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 10 c.1292dupA - r.(1292dupa) p.(Ser432Valfs*16) g.36339178dup - nt1291 (insA): Frameshift and truncation - NPHS1_000061 1 Middle Eastern CNF patient (hom) PubMed: Koziell et al. 2002 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 10 c.1307_1308dupAC - r.(1307_1308dupac) p.(Val437Thrfs*2) g.36339162_36339163dup - 1 more item - NPHS1_000062 1 more item PubMed: Kestila et al. 1998, PubMed: Beltcheva et al. 2001, PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 11 c.1337T>A - r.(1337u>a) p.(Ile446Asn) g.36339046A>T - nt1337 (T→A): I446N - NPHS1_000063 1 English/Indian CNF patient (com-het) PubMed: Koziell et al. 2002 - SUMMARY record yes - - - - Anne Polvi
+?/+? 2 11 c.1379G>A - r.(1379g>a), r.(?) p.(Arg460Gln) g.36339004C>T - 1379G>A: R460Q; c.1379G>A:R460Q; c.1381G>A: p.R460Q; c.G1379A: p.R460Q - NPHS1_000064 1 Spanish patient (hom) with probable CNF, 1 more item PubMed: Santin et al. 2009, 1 more item - SUMMARY record yes 0/295 CON - - - Anne Polvi
+?/+? 1 11 c.1394G>A - r.(1394g>a) p.(Cys465Tyr) g.36338989C>T - exon 11 nt1384(G>A): Cys465>Tyr - NPHS1_000065 1 Finnish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/. 1 i c.1440+1G>A - r.spl? p.? g.36338942C>T - - - NPHS1_000151 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 - Germline - - - - - Johan den Dunnen
+/+ 1 12 c.1481delC - r.(1481delc) p.(Ser494Cysfs*55) g.36337056delG - 1 more item - NPHS1_000066 Mennonite CNF founder mutation (North American/Mennonite) PubMed: Bolk et al. 1999, PubMed: Philippe et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 12 c.1555C>T - r.(1555c>u) p.(Pro519Ser) g.36336982G>A - Ex12, c.1555C>T(h) = P519S - NPHS1_000067 1 European CNF patient (com-het) PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 12 c.1583G>T - r.(1583g>u) p.(Cys528Phe) g.36336954C>A - exon 12 nt1583(G>T): Cys528>Phe - NPHS1_000068 1 French CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/? 1 - c.1655C>A - r.(?) p.(Ala552Asp) g.36336673G>T - - - NPHS1_000141 - Bullich G et al, submitted - Germline - - - - - Elisabet Ars Criach
+?/+? 1 13 c.1672C>T - r.(1672c>u) p.(Arg558Cys) g.36336656G>A - 1672C>T: R558C; c.C1672T: p.R558C - NPHS1_000069 1 Turkish twin pair (hom) with CNF and CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+/., +?/., +/+ 4 13 c.1701C>A - r.(?), r.(1701c>a) p.(Cys567*) g.36336627G>T - 1701C>A: C567X - NPHS1_000070 4 Hispanic CNF patients (com-het) and other CNF patients with non specified number and origin. PubMed: Santín et al. 2009, 1 more item - Germline, SUMMARY record yes - - - - Elisabet Ars Criach, Elena Semina, Anne Polvi
+?/+? 1 13 c.1707C>G - r.(1707c>g) p.(Ser569Arg) g.36336621G>C - c.1707C>G:p.Ser569Arg - NPHS1_000071 1 more item PubMed: Frishberg et al. 2007, PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 13 c.1715G>A - r.(1715g>a) p.(Ser572Asn) g.36336613C>T - c.1715G>A: p.S572N; c.G1715A: p.S572N - NPHS1_000072 1 Italian CNF family and 1 European CNF patient (com-het) PubMed: Gigante et al. 2005, PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 13 c.1724C>A - r.(1724c>a) p.(Pro575Gln) g.36336604G>T - c.1724C>A: p.P575Q - NPHS1_000073 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes 0/91 CON - - - Anne Polvi
+?/+? 1 i14-15 c.1758-15_1778del - r.? p.? g.36336422_36336457del - c.1759-15_1778del: Splice error - NPHS1_000121 1 CNF patient of unknown origin (hom) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 - c.1758-8_1785del - r.? p.? g.36336415_36336450del - - - NPHS1_000150 1 CNF patient (hom) PubMed: Kari et al. 2014 - SUMMARY record - - - - - Anne Polvi
+?/+? 1 14 c.1760T>G - r.(1760u>g) p.(Leu587Arg) g.36336440A>C - c.T1760G: p.L587R - NPHS1_000074 1 Pakistan (hom) and 1 Asian (hom) CNF family, 1 Turkish CNF patient (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 14 c.1801G>C - r.(1801g>c) p.(Gly601Arg) g.36336399C>G - 1801G>C: Gly601Arg - NPHS1_000075 1 Japanese CNF family (com-het) PubMed: Aya et al. 2009 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 14 c.1829T>A - r.(1829u>a) p.(Leu610Gln) g.36336371A>T - exon 14 nt1829(T>A):Leu610>Gln - NPHS1_000076 1 French CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 14 c.1847A>G - r.(?) p.(Asp616Gly) g.36336353T>C - - - NPHS1_000139 1 Tunisian CNF patient (hom) PubMed: Mbarek et al. 2011 - SUMMARY record yes - - - - Anne Polvi
+?/., +?/+? 2 14 c.1868G>T - r.(?), r.(1868g>u) p.(Cys623Phe) g.36336332C>A - exon 14 nt1868(G>T): Cys623>Phe; c.G1868T: p.C623F - NPHS1_000077 1 more item PubMed: Santín et al. 2011, 1 more item - Germline, SUMMARY record yes 0/93 CON - - - Elisabet Ars Criach, Anne Polvi
+?/+? 1 14 c.1905C>T - r.spl? p.? g.36336295G>A - nt1905 (C→T): Exon 14 alternative splice donor site?, aberrant splicing - NPHS1_000078 1 English CNF patient (com-het) PubMed: Koziell et al. 2002 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 14 c.1928T>C - r.(1928u>c) p.(Leu643Pro) g.36336272A>G - nt1927 (T→C): L643P - NPHS1_000079 1 Indian CNF patient (hom) PubMed: Koziell et al. 2002 - SUMMARY record yes - - - - Anne Polvi
+/. 1 14i c.1930+5G>A - r.1900_1930del p.Val634Thrfs*13 g.36336265C>T - - - NPHS1_000148 - Bullich G et al, submitted - Germline - - - - - Elisabet Ars Criach
+/+ 1 15 c.1954C>T - r.(1954c>u) p.(Gln652*) g.36335338G>A - exon 15, nt1954(C>T): Q652X - NPHS1_000081 1 Swedish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 14 c.2019C>A - r.(2019c>a) p.(Asn673Lys) g.36335273G>T - c.C2019A: p.N673K - NPHS1_000080 1 European CNF family (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 15 c.2043G>T - r.(2043g>u) p.(Trp681Cys) g.36335249C>A - c.G2043T: c.W681C - NPHS1_000082 1 Arabic CNF family (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 i15 c.2071+2T>C - r.spl? p.? g.36335219A>G - 2071+2T>C: Splice - NPHS1_000122 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 i15 c.2072-6C>G - r.spl? p.? g.36335151G>C - c.2072-6C>G - NPHS1_000123 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 16 c.2126T>G - r.(2126u>g) p.(Val709Gly) g.36335091A>C - Ex16, c.2126T>G(H) = V709G - NPHS1_000083 1 Turkish CNF patient (hom) PubMed: Heeringa et al. 2008 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 16 c.2156_2163delTGCACTGC - r.(2156_2163delugcacugc) p.(Leu719Profs*4) g.36335054_36335061delGCAGTGCA - 2156-2163del: frameshift and truncated protein; c.2156_2163 delTGCACTGC: p.L719DfsX4 - NPHS1_000084 1 Japanese (hom) and 1 Korean CNF patient (com-het) PubMed: Sako et al. 2005, PubMed: Lee et al. 2009 - SUMMARY record yes - - - - Anne Polvi
+/+ 1 16 c.2160_2161insC - r.(2160_ 2161insc) p.(Cys721Leufs*5) g.36335056_36335057insG - c.2160_2161insC:p.Cys721fs - NPHS1_000085 3 CNF patients (1 hom and 2 com-het) in 1 large partly consangenous Arab-Muslim CNF family PubMed: Frishberg et al. 2007 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 16 c.2171C>G - r.(2171c>g) p.(Ser724Cys) g.36335046G>C - exon 16 nt2171(C>G): Ser724>Cys - NPHS1_000086 1 French CNF family (com-het) PubMed: Lenkkeri at al. 1999 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 16 c.2172_2173delTG - r.(2172_2173delug) p.(Glu725Glyfs*25) g.36335044_36335045delCA - a 2-bp deletion (2172–2173) in exon 16: frameshift mutation - NPHS1_000087 1 CNF patient (het). PubMed: Lemley et al. 2006 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 i16 c.2213-2dupA - r.spl? p.? g.36334497dup - - - NPHS1_000149 1 Iranian CNF patient (hom) PubMed: Ameli et al. 2013 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 17 c.2216C>T - r.(2216c>u) p.(Ala739Val) g.36334492G>A - 2216C>T: A739V - NPHS1_000088 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 17 c.2225T>C - c.2225T>C p.(Ile742Thr) g.36334483A>G - c.2225T>C: p.I742T - NPHS1_000089 1 Chinese CNF family PubMed: Wu et al. 2011 - SUMMARY record yes 0/50 CON - - - Anne Polvi
+?/+? 1 17 c.2227C>T - r.(2227c>u) p.(Arg743Cys) g.36334481G>A - exon 17 nt2227(C>T): Arg743>Cys - NPHS1_000090 1 more item PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: Kari et al. 2014 - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 17 c.2227delC - r.(2227del) p.(Arg743Valfs*9) g.36334481delG - c.2227delC: p.R743fsX10 - NPHS1_000091 1 Arabic CNF family (com-het) PubMed: Schoeb et al. 2010 - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+?, ./. 2 i17 c.2335-1G>A - r.spl? p.? g.36333453C>T - intron 18, nt2335-1(G>A): Splice-site mutation - NPHS1_000124 splice variant, 1 more item PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: DDDS 2015, Journal: DDDS 2015 rs150038620 SUMMARY record, Germline yes 0/30 CON - - - Anne Polvi, Johan den Dunnen
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