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| Patient samples |
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Locus | Ref | Genes | dbSNP | Strand | 1 | 2 | 3 | 4 | Amino acid change | Coding | Exon |
chr1:200968575 | T | KIF21B | rs753390486 | − |
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| T/G | p. Glu596Ala | c.1787A > C | 13 |
chr2:111598958 | C | ACOXL | rs1554005 | + |
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| C/T | p. Thr255Met | c.764C > T | 10 |
chr2:111850515 | C | ACOXL | rs17041850 | + |
| C/T |
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| p. Pro505Leu | c.1514C > T | 17 |
chr2:133489376 | C | NCKAP5 | rs776162189 | − |
| C/G |
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| p. Asp1793His | c.5377G > C | 17 |
chr2:133541107 | T | NCKAP5 | rs16841277 | − |
| A/A | A/A | T/A | p. Asn1093Tyr | c.3277A > T | 14 |
chr2:133542105 | C | NCKAP5 | rs142329411 | − |
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| C/G |
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| 14 |
chr2:206480353 | C | PARD3B | rs80119103 | + |
| C/A |
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| p. Pro1083His | c.3248C > A | 22 |
chr5:7520881 | G | ADCY2 | rs13166360 | + |
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| G/T | p. Val147Leu | c.439G > T | 3 |
chr5:52243247 | G | ITGA1 | Novel | + |
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| G/T |
| p.Ala1151Ser | c.3451G > T | 28 |
chr5:132561468 | C | FSTL4 | rs61741674 | − |
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| C/A | p. Glu353Asp | c.1059G > T | 2 |
chr6:12120588 | C | HIVEP1 | rs2228209 | + |
| C/T | C/T | C/T | p. Thr187Met | c.560C > T | 9 |
chr6:152665271 | G | SYNE1 | rs150179494 | − | A/A |
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| p. Pro4057Leu | c.12170C > T | 4 |
chr7:1484457 | G | MICALL2 | rs61736381 | − |
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| G/A |
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| 146 |
chr8:2909992 | G | CSMD1 | rs6558702 | − | G/A |
| G/A |
| p. Thr2551Met | c.7652C > T | 74 |
chr8:72977703 | C | TRPA1 | rs920829 | − | C/T | C/T |
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| p. Glu179Lys | c.535G > A | 6 |
chr11:63974966 | G | FERMT3 | rs149000560 | + |
| G/A | G/A |
| p. Gly44Arg | c.130G > A | 50 |
chr12:89745477 | C | DUSP6 | rs2279574 | − |
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| C/A | C/A | p. Val114Leu | c.340G > T | 4 |
chr12:89916811 | C | GALNT4, POC1B, | rs2230283 | − |
| C/T | C/T | C/T | p. ? p. Val506Ile, p. Val334Ile | c.100 + 2086G > A, c.1516G > A, c.1000G > A | 4 |
chr12:100042040 | C | FAM71C, ANKS1B | rs11109968 | −, + | G/G |
| G/G |
| p.? p. Arg30Gly | c.1272+6805G > C, c.88C > G | 4 |
chr12:106460938 | G | NUAK1 | rs3741883 | − |
| G/C | G/C | G/C | p. Pro543Arg | c.1628C > G | 2 |
chr13:24798055 | G | SPATA13 | Novel | + | G/A |
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| p. Ala330Thr | c.988G > A | 1 |
chr13:24823699 | G | SPATA13 | rs41287016 | + |
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| G/A | p. Gly580Ser | c.1738G > A | 3 |
chr13:29898768 | A | MTUS2 | rs928661 | + | C/C | C/C | A/C | C/C | p. Gln952Pro | c.2855A > C | 1 |
chr15:68628163 | C | ITGA11 | rs2306022 | − |
| C/T |
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| p. Val433Met | c.1297G > A | 7 |
chr16:23634293 | C | PALB2 | rs45551636 | − |
| C/T |
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| p. Gly998Glu | c.2993G > A | 2 |
chr16:81211496 | C | PKD1L2 | rs9935113 | − | C/A |
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| C/A | p. Gly785Cys | c.2353G > T | 2 |
chr16:81232336 | T | PKD1L2 | rs34276551 | − | T/C |
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| p. Thr492Ala | c.1474A > G | 3 |
chr16:81241100 | G | PKD1L2 | rs11150370, rs386792899 | − | G/C | G/C | G/C | G/C | p. Pro301Ala | c.901C > G | 3 |
chr16:81249927 | C | PKD1L2 | rs7185774 | − |
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| T/T |
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| 5 |