No. | Position on Chromosome 17 (GRCh37) | HGVS DNA | HGVS protein | Exon/intron | SNP ID | Transcript | Coil | ClinVar | SIFT | MutationTaster | PROVEAN | FATHMM | GERP | ACMG | CADD | PolyPhen-2 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 42987997 | c.1157A > G | p.Asn386Ser | E | rs61726471 | ENST00000253408 | Tail | - | T | DC | N | D | 5.13 | LP | 17.83 | B |
2 | 42992647 | c.208C > T | p.Arg70Trp | E | rs60343255 | ENST00000253408 | Head | P | D | DC/P | D | D | 4.82 | P | 24.1 | PD |
3 | 42992549 | c.306C > A | p.Asn102Lys | E | - | ENST00000586793.1 | Coil1A | - | T | DC | N | T/D | 4.69 | LP | 21.8 | PD |
4 | 42988006 | c.1148C > T | p.Thr383Ile | E | rs267607517 | ENST00000586793.1 | Tail | P | D | DC/P | D | D | 5.13 | LP | 25.4 | PD |
5 | 42992644 | c.211G > A | p.Ala71Thr | E | rs267607522 | ENST00000586793.1 | Head | NP | D | DC/P | N | D | 4.82 | LP | 23.1 | PD |
6 | 42984686 | c.*29C > T | NA | 3UTR | rs370608748 | ENST00000588735.1 | - | - | - | - | - | - | 5.07 | B | - | - |
7 | 42988655 | c.1076 T > C | p.Leu359Pro | E | rs267607511 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.25 | P | 30 | PD |
8 | 42988652 | c.1079A > T | p.Asp360Val | E | rs62636501 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.25 | LP | 32 | PD |
9 | 42988644 | c.1087A > G | p.Ile363Val | E | - | ENST00000586793.1 | Coil2B | - | D | DC | N | D | 4.25 | LP | 27.3 | PD |
10 | 42988641 | c.1090G > A | p.Ala364Thr | E | rs58645997 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.25 | P | 28.8 | PD |
11 | 42988631 | c.1100G > C | p.Arg367Thr | E |  | ENST00000586793.1 | Coil2B | - | D | DC | D | D | 4.25 | P | 28.8 | PD |
12 | 42988613 | c.1118A > C | p.Glu373Ala | E | rs797044589 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.25 | P | 31 | PD |
13 | 42988612 | c.1119G > C | p.Glu373Asp | E | - | ENST00000586793.1 | Coil2B | - | D | DC | D | D | 4.25 | P | 25.6 | PD |
14 | 42988605 | c.1126C > T | p.Arg376Trp | E | rs267607512 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.25 | P | 29.7 | PD |
15 | 42988604 | c.1127G > A | p.Arg376Gln | E | - | ENST00000586793.1 | Coil2B | - | D | DC | D | D | 4.25 | P | 36 | PD |
16 | 42988000 | c.1154C > G | p.Ser385Cys | E | rs797044590 | ENST00000586793.1 | Tail | LP/P | D | DC | D | D | 5.13 | P | 28.2 | PD |
17 | 42987997 | c.1157A > G | p.Asn386Ser | E | rs61726471 | ENST00000586793.1 | Tail | - | T | DC | N | D | 5.13 | LP | 17.83 | B |
18 | 42987996 | c.1158C > A | p.Asn386Lys | E | - | ENST00000586793.1 | Tail | - | D | DC | N | D | 5.13 | LP | 24.9 | B |
19 | 42985512 | c.1177A > C | p.Ser393Arg | E | - | ENST00000253408.5 | Tail | - | T | DC | N | - | 5.23 | LP | 22.6 | PD |
20 | 42985511 | c.1178G > T | p.Ser393Ile | E | rs62635764 | ENST00000253408.5 | Tail | P | T | DC | N | - | 5.23 | LP | 21.9 | B |
No. | Position on Chromosome 17 (GRCh37) | HGVS DNA | HGVS protein | Exon/intron | SNP ID | Transcript | Coil | ClinVar | SIFT | MutationTaster | PROVEAN | FATHMM | GERP | ACMG | CADD | PolyPhen-2 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
21 | 42985496 | c.1193C > A | p.Ser398Tyr | E | rs267607508 | ENST00000253408.5 | Tail | P | P | DC | N | - | 5.23 | LP | 22.4 | PD |
22 | 42985496 | c.1193C > T | p.Ser398Phe | E | rs267607508 | ENST00000253408.5 | Tail | P | D | DC | N | - | 5.23 | LP | 22.7 | PD |
23 | 42985454 | c.1235C > T | p.Thr412Ile | E | rs1597853099 | ENST00000253408.5 | Tail | LP | D | DC | D | - | 5.13 | LP | 22.4 | PD |
24 | 42985444 | c.1245G > A | p.Met415Ile | E | - | ENST00000253408.5 | Tail | - | D | P | N | - | 5.13 | VUS/P | 21.8 | B |
25 | 42985443 | c.1246C > T | p.Arg416Trp | E | rs121909717 | ENST00000253408.5 | Tail | P | D | DC | D | - | 5.13 | P | 21.2 | PD |
26 | 42985439 | c.1250A > C | p.Asp417Ala | E | rs267607520 | ENST00000253408.5 | Tail | P | D | DC | D | - | 5.13 | LP | 22.5 | B |
27 | 42984754 | c.1260C > T | p.Val420 =  | E | rs779643685 | ENST00000253408.5 | Tail | - | - | DC | - | - | 4.80 | LB | 18.95 | - |
28 | 42984737 | c.1277A > T | p.Gln426Leu | E | rs267607521 | ENST00000253408.5 | Tail | P | D | DC | D | - | 5.34 | LP | 18.64 | PD |
29 | 42987511 | c.1289G > A | p.Arg430His | E | rs748860341 | ENST00000435360.2 | Tail | LP | D | DC/P | D | D | 4.78 | LP | 15.13 | PD |
30 | 42987510 | c.1290C > A | p.Arg430 =  | E | rs775524073 | ENST00000435360.2 | Tail | LP | D | P | - | - | 4.78 | VUS/P | 11.06 | - |
31 | 42992668 | c.187A > C | p.Lys63Gln | E | rs60095124 | ENST00000586793.1 | Head | P | D | DC/P | N | D | 4.82 | LP | 23.5 | B |
32 | 42992658 | c.197G > A | p.Arg66Gln | E | rs797044569 | ENST00000586793.1 | Head | Conflict | D | DC | D | D | 5.89 | LP | 29 | PD |
33 | 42992647 | c.208C > T | p.Arg70Trp | E | rs60343255 | ENST00000586793.1 | Head | P | D | DC/P | D | D | 4.82 | P | 24.1 | PD |
34 | 42992646 | c.209G > A | p.Arg70Gln | E | rs267607510 | ENST00000586793.1 | Head | VUS | D | DC/P | N | D | 4.82 | P | 22.2 | PD |
35 | 42992641 | c.214G > A | p.Glu72Lys | E | rs267607523 | ENST00000586793.1 | Head | P | D | DC | D | D | 4.82 | P | 24 | B |
36 | 42992636 | c.219G > C | p.Met73Ile | E | - | ENST00000586793.1 | Coil1A | - | D | DC | N | D | 4.82 | P | 23 | B |
37 | 42992636 | c.219G > T | p.Met73Ile | E | - | ENST00000586793.1 | Coil1A | - | D | DC | N | D | 4.82 | P | 23 | B |
38 | 42992634 | c.221 T > C | p.Met74Thr | E | rs267607504 | ENST00000586793.1 | Coil1A | P | D | DC | N | D | 4.82 | P | 22.3 | B |
39 | 42992629 | c.226C > T | p.Leu76Phe | E | rs57120761 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.82 | P | 26.7 | PD |
40 | 42992624 | c.231 T > A | p.Asn77Lys | E | - | ENST00000586793.1 | Coil1A | - | D | DC | D | D | 4.82 | P | 23.3 | PD |
No. | Position on Chromosome 17 (GRCh37) | HGVS DNA | HGVS protein | Exon/intron | SNP ID | Transcript | Coil | ClinVar | SIFT | MutationTaster | PROVEAN | FATHMM | GERP | ACMG | CADD | PolyPhen-2 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
41 | 42992623 | c.232G > A | p.Asp78Asn | E | rs797044571 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.82 | P | 26 | PD |
42 | 42992623 | c.232G > C | p.Asp78His | E | - | ENST00000591880.1 | Coil1A | - | D | DC | D | - | 3.39 | VUS/P | 26 | PD |
43 | 42992621 | c.234C > G | p.Asp78Glu | E | - | ENST00000586793.1 | Coil1A | - | D | DC | D | D | 4.82 | P | 26 | PD |
44 | 42992620 | c.235C > T | p.Arg79Cys | E | rs59793293 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.82 | P | 24.9 | PD |
45 | 42992619 | c.236G > A | p.Arg79His | E | rs59285727 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.82 | P | 24.6 | PD |
46 | 42992619 | c.236G > C | p.Arg79Pro | E | rs59285727 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.82 | P | 26.8 | PD |
47 | 42992619 | c.236G > T | p.Arg79Leu | E | rs59285727 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.82 | P | 26.7 | B |
48 | 42992605 | c.250A > T | p.Ile84Phe | E | - | ENST00000587997.1 | Coil1A | - | D | DC | D | D | 5.07 | LP | 24.3 | B |
49 | 42992596 | c.256_259delinsGAGT | p.Lys86_Val87delinsGluPhe | E | rs267607501 | ENST00000586793.1 | Coil1A | P | - | - | - | - | Â | LP | - | - |
50 | 42992596 | c.259G > A | p.Val87Ile | E | rs267607518 | ENST00000586793.1 | Coil1A | P | D | DC | N | D | 4.69 | P | 24 | PD |
51 | 42992593 | c.262C > T | p.Arg88Cys | E | rs61622935 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.69 | P | 28.2 | PD |
52 | 42992593 | c.262C > A | p.Arg88Ser | E | rs61622935 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.69 | P | 31 | PD |
53 | 42992577 | c.278A > C | p.Gln93Pro | E | rs797044574 | ENST00000586793.1 | Coil1A | P | D | DC | D | D/T | 4.69 | LP | 27.2 | PD |
54 | 42992553 | c.302 T > C | p.Leu101Pro | E | rs267607516 | ENST00000586793.1 | Coil1A | P | D | DC | D | D | 4.69 | LP | 24.3 | PD |
55 | 42992482 | c.365_373dup | p.Arg124_Leu125insGlnLeuArg | E | rs797044575 | ENST00000586793.1 | Coil1B | P | − | − | − | − | − | LP | − | − |
56 | 42992487 | c.368 T > C | p.Leu123Pro | E | − | ENST00000586793.1 | Coil1B | − | D | DC | D | D | 4.69 | LP | 24.2 | PD |
57 | 42992470 | c.380_385dupGCGGCT | p.Leu127_Asp128dup | E | − | ENST00000586793.1 | Coil1B |  | − | − | − | − | − | LP | − | − |
58 | 42992473 | c.382G > A | p.Asp128Asn | E | rs267607509 | ENST00000586793.1 | Coil1B | P | D | DC | D | D/T | 4.57 | LP | 24.2 | PD |
59 | 42991449 | c.469G > A | p.Asp157Asn | E | rs59291670 | ENST00000586793.1 | Coil1B | B | D | DC | N | D/T | 5.55 | B | 24.5 | B |
60 | 42992802 | c.53G > T | p.Gly18Val | E | − | ENST00000586793.1 | Head |  | T | P | N | D | 3.25 | VUS/P | 1.67 | B |
No. | Position on Chromosome 17 (GRCh37) | HGVS DNA | HGVS protein | Exon/intron | SNP ID | Transcript | Coil | ClinVar | SIFT | MutationTaster | PROVEAN | FATHMM | GERP | ACMG | CADD | PolyPhen-2 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
61 | 42991103 | c.611A > G | p.His204Arg | E | − | ENST00000586793.1 | Coil1B | − | D | DC | D | D | 4.71 | LP | 25 | PD |
62 | 42991101 | c.613G > A | p.Glu205Lys | E | rs267607507 | ENST00000586793.1 | Coil1B | P | D | DC | D | D | 4.71 | LP | 25.1 | PD |
63 | 42991097 | c.617A > C | p.Glu206Ala | E | - | ENST00000586793.1 | Coil1B | − | D | DC | D | D | 4.71 | P | 33 | PD |
64 | 42990798 | c.619G > A | p.Glu207Lys | E | rs267607500 | ENST00000586793.1 | Coil1B | P | D | DC | D | D | 4.8 | P | 34 | PD |
65 | 42990798 | c.619G > C | p.Glu207Gln | E | rs267607500 | ENST00000586793.1 | Coil1B | P | D | DC | D | D | 4.8 | P | 33 | PD |
66 | 42990797 | c.620A > T | p.Glu207Val | E | rs1555574517 | ENST00000586793.1 | Coil1B | LP | D | DC | D | D | 4.8 | P | 32 | PD |
67 | 42990789 | c.628G > A | p.Glu210Lys | E | rs57661783 | ENST00000586793.1 | Coil1B | P | D | DC | D | D | 4.92 | LP | 31 | PD |
68 | 42990725 | c.692 T > A | p.Leu231His | E | rs797044577 | ENST00000586793.1 | Coil2A | P | D | DC | D | D | 4.92 | LP | 24.9 | PD |
69 | 42990713 | c.704 T > C | p.Leu235Pro | E | rs60269890 | ENST00000586793.1 | Coil2A | P | D | DC | D | D | 4.92 | LP | 24.9 | PD |
70 | 42990702 | c.715C > G | p.Arg239Gly | E | rs58064122 | ENST00000586793.1 | Coil2A | VUS | D | DC | D | D | 4.92 | LP | 25.3 | PD |
71 | 42990702 | c.715C > T | p.Arg239Cys | E | rs58064122 | ENST00000586793.1 | Coil2A | P | D | DC | D | D | 4.92 | LP | 25.3 | PD |
72 | 42990701 | c.716G > A | p.Arg239His | E | rs59565950 | ENST00000586793.1 | Coil2A | P | D | DC | D | D | 4.92 | P | 23.9 | PD |
73 | 42990693 | c.724 T > A | p.Tyr242Asn | E | − | ENST00000586793.1 | Coil2A | − | D | DC | D | D | 4.92 | LP | 25 | PD |
74 | 42990686 | c.731C > T | p.Ala244Val | E | rs61497286| | ENST00000586793.1 | Coil2A | P | D | DC | N | D | 4.94 | LP | 24.3 | PD |
75 | 42990678 | c.739 T > C | p.Ser247Pro | E | rs267607519 | ENST00000586793.1 | Coil2A | P | D | DC/P | D | D | 5.07 | LP | 23.1 | PD |
76 | 42990647 | c.770A > G | p.Tyr257Cys | E | rs26760750 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 5.07 | LP | 25.5 | PD |
77 | 42990639 | c.778A > C | p.Lys260Gln | E | − | ENST00000586793.1 | Coil2B | - | D | DC | D | D | 5.07 | LP | 28.9 | PD |
78 | 42989147 | c.799G > C | p.Ala267Pro | E | rs797044581 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.42 | LP | 27.1 | PD |
79 | 42989143 | c.803C > A | p.Ala268Asp | E | rs797044582 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.42 | LP | 25.7 | PD |
80 | 42989137 | c.809G > C | p.Arg270Pro | E | − | ENST00000586793.1 | Coil2B | − | D | DC | D | D | 4.42 | LP | 25.2 | PD |
No. | Position on Chromosome 17 (GRCh37) | HGVS DNA | HGVS protein | Exon/intron | SNP ID | Transcript | Coil | ClinVar | SIFT | MutationTaster | PROVEAN | FATHMM | GERP | ACMG | CADD | PolyPhen-2 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
81 | 42989119 | c.827G > T | p.Arg276Leu | E | rs121909719 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.42 | LP | 29.8 | PD |
82 | 42989078 | c.868C > G | p.Gln290Glu | E | rs797044583 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.38 | LP | 24.6 | PD |
83 | 42988797 | c.934G > T | p.Glu312Ter |  | rs763868966 | ENST00000586793.1 | Coil2B | VUS | − | DC | − | − | 4.65 | P | 22.8 | − |
84 | 42988743 | c.988C > G | p.Arg330Gly | E | rs267607513 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.51 | LP | 41 | PD |
85 | 42988737 | c.994G > A | p.Glu332Lys | E | rs267607514 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.51 | LP | 23.1 | PD |
86 | 42985511 | c.1178G > T | p.Ser393Ile | E | rs62635764 | ENST00000253408.5 | Coil2B | P | T | DC | N | − | 5.23 | LP | 24 | B |
87 | 42992483 | c.372_373insGAA | p.Arg124_Leu125insGlu | E | - | ENST00000586793.1 | Coil1B | - | - | - | − | − | 4.63 | LP | 15.82 | − |
88 | 42990689 | c.726_728dupAGG | p.E243dup | E | - | ENST00000586793.1 | Coil1B | - | - | - | − | − | 4.92 | LP | 16.67 | − |
89 | 42990716 | c.701C > A | p.Ala234Asp | E | rs1353739896 | ENST00000592320.1 | Coil2A | - | T | DC/P | D | D | 4.25 | LP | 19.72 | PD |
90 | 42990801 | c.619-3C > G | NA | I | rs112611995 | ENST00000586793.1 | - | P | - | - | - | - | - | VUS/P | - | - |
91 | 42992582 | c.273A > C | p.Glu91Asp | E | - | ENST00000586793.1 | Coil1A | - | D | DC | D | D | 4.69 | LP | 25.6 | PD |
92 | 42992581 | c.274C > G | p.Gln92Glu | E | - | ENST00000586793.1 | Coil1A | - | D | DC | N | D | 4.69 | LP | 24.9 | PD |
93 | 42992476 | c.378_379dup | p.Leu127ArgfsTer26 | E | - | ENST00000586793.1 | Coil1B | - | - | - | - | - | 4.58 | P | 17.26 | - |
94 | 42988612 | c.1119G > C | p.Glu373Asp | E | - | ENST00000435360.2 | Coil2B | - | D | DC | D | D | 4.25 | P | 21.9 | PD |
95 | 42989044 | c.902G > A | p.Gly301Asp | E | - | ENST00000586793.1 | Coil2B | - | D | DC | D | D | 4.38 | LP | 25.3 | PD |
96 | 42990644 | c.773G > C | p.Arg258Pro | E | rs61726468 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 5.07 | LP | 26 | PD |
97 | 42989155 | c.791 T > C | p.Leu264Pro | E | rs797044579 | ENST00000586793.1 | Coil2B | P | D | DC | D | D | 4.42 | LP | 25.3 | PD |
98 | 42992579 | c.276G > T | p.Gln92His | E | - | ENST00000586793.1 | Coil1A | - | D | DC | D | D | 4.69 | LP | 24.5 | PD |