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Table 2 Polymorphisms

From: High Resolution Melt analysis for mutation screening in PKD1 and PKD2

DNA change Protein change Intron or exon Fragment Mutation type Reference Nb
PKD1
c.107C>A p.Pro36His Exon 1 1 SUBSTITUTION [37] 2
c.114C>T p.Leu38Leu Exon 1 1 SYNONYMOUS Novel 1
c.1023C>T p.Ala341Ala Exon 5 5C SYNONYMOUS [9] 2
c.1119T>C p.Leu373Leu Exon 5 5C SYNONYMOUS [24] 1
c.1323G>A p.Gly441Gly Exon 6 6 SYNONYMOUS [25] 1
c.1607-27C>T Silent Intron 7 8 INTRONIC [10] 3
c.1714C>T p.Pro572Ser Exon 8 8 SUBSTITUTION [10] 1
c.1850-4A>G Silent Intron 9 10 INTRONIC [10] 2
c.2214C>G p.Pro738Pro Exon 11 11A SYNONYMOUS [18] 1
c.2216A>G p.Gln739Arg Exon 11 11A SUBSTITUTION [31] 5
c.2234C>G p.Ala745Ala Exon 11 11A SYNONYMOUS Novel 1
c.2700G>A p.Pro900Pro Exon 11 11B SYNONYMOUS [31] 1
c.2730C>T p.Asp910Asp Exon 11 11B SYNONYMOUS [31] 1
c.2854-5C>T Silent Intron 11 12 INTRONIC [10] 1
c.2985+4G>A Silent Intron 12 12 INTRONIC Novel 4
c.2985+5G>A Silent Intron 12 12 INTRONIC Novel 3
c.2986-15C>T Silent Intron 12 13 INTRONIC [38] 4
c.3063T>C p.Gly1021Gly Exon 13 13 SYNONYMOUS [31] 8
c.3111A>G p.Leu1037Leu Exon 13 13 SYNONYMOUS [9] 7
c.3275T>C p.Met1092Thr Exon 14 14 SUBSTITUTION [10] 5
c.2395+53G>T Silent Intron 14 14 INTRONIC Novel 1
c.3372C>T p.Ala1124Ala Exon 15 15A SYNONYMOUS [9] 8
c.3375C>T p.Ser1125Ser Exon 15 15A SYNONYMOUS [9] 8
c.3502C>T p.Pro1168Ser Exon 15 15A SUBSTITUTION [10] 2
c.4018C>T p.Arg1340Trp Exon 15 15B SUBSTITUTION [10] 1
c.4071G>T p.Leu1357Leu Exon 15 15C SYNONYMOUS [18] 1
c.4195T>C p.Trp1399Arg Exon 15 15C SUBSTITUTION [31] 8
c.4546G>A p.Ala1516Thr Exon 15 15D SUBSTITUTION [18] 1
c.4665A>C p.Ala1555Ala Exon 15 15D SYNONYMOUS [31] 11
c.4674G>A p.Thr1558Thr Exon 15 15D SYNONYMOUS [38] 4
c.5051C>T p.Ser1684Leu Exon 15 15E SUBSTITUTION [10] 1
c.5172C>T p.Ala1724Ala Exon 15 15E SYNONYMOUS [39] 11
c.5763G>A p.Leu1921Leu Exon 15 15G SYNONYMOUS [9] 1
c.6927C>T p.Gly2309Gly Exon 16 16 SYNONYMOUS [39] 2
c.7165T>C p.Leu2389Leu Exon 17 17 SYNONYMOUS [31] 7
c.7209+16G>A Silent Intron 17 17 INTRONIC Novel 13
c.7210C>T p.Arg2404Trp Exon 18 18 SUBSTITUTION CRISP unpublised 1
c.7441C>T p.Leu2481Leu Exon 18 18 SYNONYMOUS [31] 11
c.7642G>C p.Glu2548Gln Exon 19 19 SUBSTITUTION [39] 1
c.7703+24C>A Silent Intron 19 19 INTRONIC [18] 1
c.7708T>C p.Leu2570Leu Exon 20 20 SYNONYMOUS [32] 8
c.7863+47T>G Silent Intron 20 20 INTRONIC [10] 9
c.7913A>G p.His2638Arg Exon 21 21 SUBSTITUTION [38] 8
c.8016+13delG Silent Intron 21 21 INTRONIC Novel 1
c.8016+26T>C Silent Intron 21 21 INTRONIC [30] 8
c.8016+71G>A Silent Intron 21 21 INTRONIC Novel 1
c.8016+77C>T Silent Intron 21 21 INTRONIC Novel 1
c.8020C>T p.Pro2674Ser Exon 22 22 SUBSTITUTION [40] 2
c.8087T>G p.Leu2696Arg Exon 22 22 SUBSTITUTION [41] 12
c.8123C>T p.Thr2708Met Exon 22 22 SUBSTITUTION [40] 1
c.8161+21T>C Silent Intron 22 22 INTRONIC [30] 13
c.8161+23C>T Silent Intron 22 22 INTRONIC Novel 9
c.8161+24C>G Silent Intron 22 22 INTRONIC Novel 11
c.8161+25A>G Silent Intron 22 22 INTRONIC Novel 11
c.8161+29del18 Silent Intron 22 22 INTRONIC Novel 1
c.8161+30C>G Silent Intron 22 22 INTRONIC Novel 12
c.8161+31C>T Silent Intron 22 22 INTRONIC Novel 12
c.8161+38G>A Silent Intron 22 22 INTRONIC [30] 10
c.8161+39T>C Silent Intron 22 22 INTRONIC [10] 1
c.8161+41C>T Silent Intron 22 22 INTRONIC Novel 1
c.8161+42C>G Silent Intron 22 22 INTRONIC Novel 10
c.8161+46ins18 Silent Intron 22 22 INTRONIC Novel 1
c.8644T>A p.Trp2882Arg Exon 23 23B SUBSTITUTION [18] 1
c.8681_8689del9 p.Ala2894_Ser2896del Exon 23 23B DELETION [11] 1
c.8898G>C p.Glu2966Asp Exon 24 24 SUBSTITUTION [42] 1
c.8913T>C p.Ala2971Ala Exon 24 24 SYNONYMOUS [42] 2
c.8948+17A>G Silent Intron 24 24 INTRONIC [18] 1
c.9195G>C p.Val3065Val Exon 25 25 SYNONYMOUS Novel 1
c.9196T>C p.Phe3066Leu Exon 25 25 SUBSTITUTION [43] 1
c.9260C>G p.Thr3087Thr Exon 26 26 SYNONYMOUS Novel 1
c.9270C>T p.Val3090Val Exon 26 26 SYNONYMOUS [39] 2
c.9330T>C p.Pro3110Pro Exon 26 26 SYNONYMOUS [44] 12
c.9569-13T>C Silent Intron 27 28 INTRONIC [10] 5
c.9712+30T>G Silent Intron 28 28 INTRONIC Novel 2
c.10050+54A>G Silent Exon 30 30 INTRONIC [10] 5
c.10170+14T>C Silent Intron 31 31 INTRONIC [45] 1
c.10225G>C p.Val3409Leu Exon 33 33 SUBSTITUTION [18] 1
c.10368C>T p.Ala3456Ala Exon 33 33 SUBSTITUTION [18] 1
c.10406-4C>T Silent Intron 33 34 INTRONIC Novel 1
c.10535C>T p.Ala3512Val Exon 35 35 SUBSTITUTION [44] 4
c.10768C>T p.Leu3590Leu Exon 36 36 SYNONYMOUS [46] 5
c.11376G>C p.Ser3792Ser Exon 40 40 SYNONYMOUS [40] 1
c.11537+5_+6insGGG Silent Intron 41 41 INTRONIC [39] 1
c.11682C>T p.Ser3894Ser Exon 42 42 SYNONYMOUS [10] 2
c.11916C>T p.Arg3972Arg Exon 43 43 SYNONYMOUS [39] 5
c.12138+22delG Silent Intron 44 44 INTRONIC [47] 1
c.12176C>T p.Ala4059Val Exon 45 45 SUBSTITUTION [48] 3
c.12201T>C p.Pro4067Pro Exon 45 45 SYNONYMOUS Novel 9
c.12276A>G p.Ala4092Ala Exon 45 45 SYNONYMOUS [31] 5
c.12409C>T p.Leu4137Leu Exon 45 45 SYNONYMOUS [49] 1
c.12630T>C p.Pro4210Pro Exon 46 46A SYNONYMOUS [46] 1
c.12765C>T p.Pro4255Pro Exon 46 46B SYNONYMOUS [50] 1
PKD2
c.83G>C p.Arg28Pro Exon 1 1A SUBSTITUTION [51] 1
c.321A>T p.Glu107Asp Exon 1 1B SUBSTITUTION Novel 15
c.420G>A p.Gly140Gly Exon 1 1B SYNONYMOUS [52] 6
c.568G>A p.Ala190Thr Exon 1 1B SUBSTITUTION [25] 3
c.844-22G>A Silent Intron 3 4 INTRONIC [51] 1
c.1445T>G p.Phe482Cys Exon 6 6 SUBSTITUTION [53] 1
  1. Nb: number of patients carrying the sequence variant.