Variant |
Chrom |
Position |
Genes |
Protein Consequence |
Transcript Consequence |
Filter |
Annotation |
Exon Number |
Allele Count |
Allele Number |
Number of Homozygotes |
Number of Heterozygotes |
Allele Frequency |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1:2407766 G / T | 1 | 2407766 | PLCH2 | p.Met1ext-87 | c.-262G>T | PASS | 5' UTR premature start codon gain | 1 | 3 | 2404 | 0 | 3 | 0.001248 |
1:2407781 C / T (rs78504402) | 1 | 2407781 | PLCH2 | c.-247C>T | PASS | 5' UTR | 1 | 55 | 2404 | 10 | 35 | 0.02288 | |
1:2407818 G / T | 1 | 2407818 | PLCH2 | c.-210G>T | PASS | 5' UTR | 1 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2407867 T / C (rs1641620332) | 1 | 2407867 | PLCH2 | c.-161T>C | PASS | 5' UTR | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2407889 GAG / _ | 1 | 2407889 | PLCH2 | c.-128_-126delGGA | PASS | 5' UTR | 1 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2407965 C / T (rs566449945) | 1 | 2407965 | PLCH2 | c.-63C>T | PASS | 5' UTR | 1 | 5 | 2404 | 0 | 5 | 0.002080 | |
1:2407972 C / T (rs559670376) | 1 | 2407972 | PLCH2 | c.-56C>T | PASS | 5' UTR | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2408012 C / T (rs374921166) | 1 | 2408012 | PLCH2 | c.-16C>T | PASS | 5' UTR | 1 | 10 | 2404 | 0 | 10 | 0.004160 | |
1:2408020 G / A (rs761890967) | 1 | 2408020 | PLCH2 | c.-8G>A | PASS | 5' UTR | 1 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2408043 C / _ | 1 | 2408043 | PLCH2 | p.Ser7Profs*50 | c.18delC | PASS | frameshift | 1 | 1 | 2404 | 0 | 1 | 0.0004160 |
1:2408045 C / T (rs370278142) | 1 | 2408045 | PLCH2 | p.Pro6= | c.18C>T | PASS | synonymous | 1 | 2 | 2404 | 0 | 2 | 0.0008319 |
1:2408059 G / A (rs765045797) | 1 | 2408059 | PLCH2 | p.Arg11Gln | c.32G>A | PASS | missense | 1 | 1 | 2404 | 0 | 1 | 0.0004160 |
1:2408071 C / T (rs777286891) | 1 | 2408071 | PLCH2 | p.Thr15Met | c.44C>T | PASS | missense | 1 | 1 | 2404 | 0 | 1 | 0.0004160 |
1:2408086 C / T (rs770539349) | 1 | 2408086 | PLCH2 | p.Ala20Val | c.59C>T | PASS | missense | 1 | 2 | 2404 | 0 | 2 | 0.0008319 |
1:2408110 G / C (rs79733537) | 1 | 2408110 | PLCH2 | p.Gly28Ala | c.83G>C | PASS | missense | 1 | 6 | 2404 | 1 | 4 | 0.002496 |
1:2408213 T / G | 1 | 2408213 | PLCH2 | c.124+62T>G | PASS | intron | 1 | 7 | 2404 | 0 | 7 | 0.002912 | |
1:2408232 T / G | 1 | 2408232 | PLCH2 | c.124+81T>G | PASS | intron | 1 | 18 | 2404 | 0 | 18 | 0.007488 | |
1:2408283 C / T (rs187014092) | 1 | 2408283 | PLCH2 | c.124+132C>T | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2408395 G / A (rs1286300853) | 1 | 2408395 | PLCH2 | c.124+244G>A | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2408406 G / A (rs544035022) | 1 | 2408406 | PLCH2 | c.124+255G>A | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2408627 G / A | 1 | 2408627 | PLCH2 | c.124+476G>A | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2408628 C / G | 1 | 2408628 | PLCH2 | c.124+477C>G | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2408661 A / G (rs1536155) | 1 | 2408661 | PLCH2 | c.124+510A>G | PASS | intron | 1 | 977 | 2404 | 429 | 119 | 0.4064 | |
1:2408834 G / A (rs11588930) | 1 | 2408834 | PLCH2 | c.124+683G>A | PASS | intron | 1 | 86 | 2404 | 28 | 30 | 0.03577 | |
1:2409008 G / A (rs574291552) | 1 | 2409008 | PLCH2 | c.124+857G>A | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409055 CCTGGACTC / _ | 1 | 2409055 | PLCH2 | c.125-853_125-845delTCCCTGGAC | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2409141 G / A (rs138378287) | 1 | 2409141 | PLCH2 | c.125-774G>A | PASS | intron | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2409186 G / A (rs372827858) | 1 | 2409186 | PLCH2 | c.125-729G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409217 C / G | 1 | 2409217 | PLCH2 | c.125-698C>G | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409235 G / A (rs12045425) | 1 | 2409235 | PLCH2 | c.125-680G>A | PASS | intron | 2 | 9 | 2404 | 2 | 5 | 0.003744 | |
1:2409276 A / G (rs12049628) | 1 | 2409276 | PLCH2 | c.125-639A>G | PASS | intron | 2 | 826 | 2404 | 352 | 122 | 0.3436 | |
1:2409310 G / T (rs529647399) | 1 | 2409310 | PLCH2 | c.125-605G>T | PASS | intron | 2 | 11 | 2404 | 2 | 7 | 0.004576 | |
1:2409340 G / C (rs144283296) | 1 | 2409340 | PLCH2 | c.125-575G>C | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2409343 C / G | 1 | 2409343 | PLCH2 | c.125-572C>G | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2409353 A / G | 1 | 2409353 | PLCH2 | c.125-562A>G | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409360 G / A (rs59417818) | 1 | 2409360 | PLCH2 | c.125-555G>A | PASS | intron | 2 | 442 | 2404 | 197 | 48 | 0.1839 | |
1:2409369 G / T | 1 | 2409369 | PLCH2 | c.125-546G>T | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2409377 G / T | 1 | 2409377 | PLCH2 | c.125-538G>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409383 G / A (rs12742193) | 1 | 2409383 | PLCH2 | c.125-532G>A | PASS | intron | 2 | 45 | 2404 | 18 | 9 | 0.01872 | |
1:2409385 G / T | 1 | 2409385 | PLCH2 | c.125-530G>T | PASS | intron | 2 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2409413 C / A (rs1042155849) | 1 | 2409413 | PLCH2 | c.125-502C>A | PASS | intron | 2 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2409431 C / A | 1 | 2409431 | PLCH2 | c.125-484C>A | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2409449 _ / CAGC (rs550997377) | 1 | 2409449 | PLCH2 | c.125-461_125-458dupAGCC | PASS | intron | 2 | 4 | 2404 | 1 | 2 | 0.001664 | |
1:2409759 G / A (rs548995148) | 1 | 2409759 | PLCH2 | c.125-156G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409767 C / T (rs1198085225) | 1 | 2409767 | PLCH2 | c.125-148C>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409774 G / A (rs567986760) | 1 | 2409774 | PLCH2 | c.125-141G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409781 GTGAGGAGTGGCCGTGCCTC... / _ (rs1189911962) | 1 | 2409781 | PLCH2 | c.125-99_125-58del | PASS | intron | 2 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2409811 C / T (rs41315658) | 1 | 2409811 | PLCH2 | c.125-104C>T | PASS | intron | 2 | 1 | 2401 | 0 | 1 | 0.0004165 | |
1:2409825 GAGGAGTGGCCGTGCCTCCG... / _ (rs539016361) | 1 | 2409825 | PLCH2 | c.125-80_125-39del | PASS | intron | 2 | 8 | 2404 | 0 | 8 | 0.003328 | |
1:2409829 A / G | 1 | 2409829 | PLCH2 | c.125-86A>G | PASS | intron | 2 | 1 | 2396 | 0 | 1 | 0.0004174 | |
1:2409857 TC / _ (rs369619702) | 1 | 2409857 | PLCH2 | c.125-54_125-53delTC | PASS | intron | 2 | 1 | 2396 | 0 | 1 | 0.0004174 | |
1:2409891 C / T (rs759700503) | 1 | 2409891 | PLCH2 | c.125-24C>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2409892 A / G (rs12727342) | 1 | 2409892 | PLCH2 | c.125-23A>G | PASS | intron | 2 | 1527 | 2404 | 501 | 525 | 0.6352 | |
1:2409922 G / A (rs774364989) | 1 | 2409922 | PLCH2 | p.Arg44= | c.132G>A | PASS | synonymous | 2 | 1 | 2404 | 0 | 1 | 0.0004160 |
1:2410079 G / A (rs1570404261) | 1 | 2410079 | PLCH2 | c.271+18G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2410158 C / T (rs550020410) | 1 | 2410158 | PLCH2 | c.271+97C>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2410179 C / T (rs557145266) | 1 | 2410179 | PLCH2 | c.271+118C>T | PASS | intron | 2 | 5 | 2404 | 0 | 5 | 0.002080 | |
1:2410216 C / T (rs1641785104) | 1 | 2410216 | PLCH2 | c.271+155C>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2410286 C / T (rs191270170) | 1 | 2410286 | PLCH2 | c.271+225C>T | PASS | intron | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2410484 G / A (rs148750988) | 1 | 2410484 | PLCH2 | c.271+423G>A | PASS | intron | 2 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2410509 G / T | 1 | 2410509 | PLCH2 | c.271+448G>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2410513 G / T | 1 | 2410513 | PLCH2 | c.271+452G>T | PASS | intron | 2 | 4 | 2404 | 0 | 4 | 0.001664 | |
1:2410789 C / T (rs11799501) | 1 | 2410789 | PLCH2 | n.261C>T | PASS | non coding exon | 1 | 825 | 2404 | 375 | 75 | 0.3432 | |
1:2411119 A / C (rs41315662) | 1 | 2411119 | PLCH2 | n.591A>C | PASS | non coding exon | 1 | 6 | 2404 | 1 | 4 | 0.002496 | |
1:2411122 G / A (rs1019941273) | 1 | 2411122 | PLCH2 | n.594G>A | PASS | non coding exon | 1 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2411126 C / T (rs528190558) | 1 | 2411126 | PLCH2 | n.598C>T | PASS | non coding exon | 1 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2411161 C / A | 1 | 2411161 | PLCH2 | n.633C>A | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411169 G / A (rs767042986) | 1 | 2411169 | PLCH2 | n.641G>A | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411209 G / A (rs111408014) | 1 | 2411209 | PLCH2 | n.681G>A | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411241 G / T (rs757192702) | 1 | 2411241 | PLCH2 | n.713G>T | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411335 C / A | 1 | 2411335 | PLCH2 | n.807C>A | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411376 G / A (rs200040569) | 1 | 2411376 | PLCH2 | n.848G>A | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411398 G / A (rs1221516458) | 1 | 2411398 | PLCH2 | n.870G>A | PASS | non coding exon | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411435 C / T (rs41315666) | 1 | 2411435 | PLCH2 | n.889+18C>T | PASS | intron | 1 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2411451 A / G (rs10797428) | 1 | 2411451 | PLCH2 | n.889+34A>G | PASS | intron | 1 | 1546 | 2404 | 510 | 526 | 0.6431 | |
1:2411458 G / A (rs1387483562) | 1 | 2411458 | PLCH2 | n.889+41G>A | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411479 G / T (rs1406959831) | 1 | 2411479 | PLCH2 | n.889+62G>T | PASS | intron | 1 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2411504 A / G (rs953870070) | 1 | 2411504 | PLCH2 | n.889+87A>G | PASS | intron | 1 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411523 G / T (rs41315668) | 1 | 2411523 | PLCH2 | n.890-100G>T | PASS | intron | 2 | 4 | 2404 | 0 | 4 | 0.001664 | |
1:2411536 C / T (rs1282074590) | 1 | 2411536 | PLCH2 | n.890-87C>T | PASS | intron | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2411598 G / A (rs374339953) | 1 | 2411598 | PLCH2 | n.890-25G>A | PASS | intron | 2 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2411636 C / T (rs186399284) | 1 | 2411636 | PLCH2 | n.903C>T | PASS | non coding exon | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411789 G / A (rs112904948) | 1 | 2411789 | PLCH2 | n.1018+38G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411800 G / A (rs868247866) | 1 | 2411800 | PLCH2 | n.1018+49G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2411811 G / A (rs961715319) | 1 | 2411811 | PLCH2 | n.1018+60G>A | PASS | intron | 2 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2412017 G / A (rs543765135) | 1 | 2412017 | PLCH2 | n.1018+266G>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2412119 G / _ | 1 | 2412119 | PLCH2 | n.1018+373delG | PASS | intron | 2 | 4 | 2404 | 2 | 0 | 0.001664 | |
1:2412121 G / C (rs78010027) | 1 | 2412121 | PLCH2 | n.1018+370G>C | PASS | intron | 2 | 5 | 2404 | 1 | 3 | 0.002080 | |
1:2412267 T / A | 1 | 2412267 | PLCH2 | n.1018+516T>A | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2412279 A / T (rs4648638) | 1 | 2412279 | PLCH2 | n.1018+528A>T | PASS | intron | 2 | 462 | 2404 | 212 | 38 | 0.1922 | |
1:2412284 C / A | 1 | 2412284 | PLCH2 | n.1018+533C>A | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2412293 C / T (rs12731186) | 1 | 2412293 | PLCH2 | n.1018+542C>T | PASS | intron | 2 | 35 | 2404 | 14 | 7 | 0.01456 | |
1:2412295 G / T | 1 | 2412295 | PLCH2 | n.1018+544G>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2412452 C / T (rs144468177) | 1 | 2412452 | PLCH2 | n.1018+701C>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2412588 _ / CCTGCCAGCT (rs555526725) | 1 | 2412588 | PLCH2 | n.1018+857_1018+866dupCCTGCCAGCT | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2412986 C / T (rs113261179) | 1 | 2412986 | PLCH2 | n.1018+1235C>T | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2413029 G / T | 1 | 2413029 | PLCH2 | n.1018+1278G>T | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2413038 A / C (rs1176905203) | 1 | 2413038 | PLCH2 | n.1018+1287A>C | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2413166 A / G (rs115810747) | 1 | 2413166 | PLCH2 | n.1018+1415A>G | PASS | intron | 2 | 6 | 2404 | 3 | 0 | 0.002496 | |
1:2413561 G / T | 1 | 2413561 | PLCH2 | n.1018+1810G>T | PASS | intron | 2 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2413625 G / T | 1 | 2413625 | PLCH2 | n.1018+1874G>T | PASS | intron | 2 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2413634 G / C (rs942817) | 1 | 2413634 | PLCH2 | n.1018+1883G>C | PASS | intron | 2 | 430 | 2404 | 200 | 30 | 0.1789 | |
1:2413924 G / T | 1 | 2413924 | PLCH2 | n.1019-1963G>T | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2413947 G / A | 1 | 2413947 | PLCH2 | n.1019-1940G>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2414031 C / A | 1 | 2414031 | PLCH2 | n.1019-1856C>A | PASS | intron | 3 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2414074 T / A | 1 | 2414074 | PLCH2 | n.1019-1813T>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2414075 C / G (rs1642036003) | 1 | 2414075 | PLCH2 | n.1019-1812C>G | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2414076 T / A | 1 | 2414076 | PLCH2 | n.1019-1811T>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2414103 G / A (rs1017092344) | 1 | 2414103 | PLCH2 | n.1019-1784G>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2414109 G / A (rs568778254) | 1 | 2414109 | PLCH2 | n.1019-1778G>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2414632 C / A | 1 | 2414632 | PLCH2 | n.1019-1255C>A | PASS | intron | 3 | 5 | 2404 | 2 | 1 | 0.002080 | |
1:2414896 T / C (rs75732251) | 1 | 2414896 | PLCH2 | n.1019-991T>C | PASS | intron | 3 | 4 | 2404 | 2 | 0 | 0.001664 | |
1:2414920 G / A (rs1411729000) | 1 | 2414920 | PLCH2 | n.1019-967G>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2414928 G / A (rs4995304) | 1 | 2414928 | PLCH2 | n.1019-959G>A | PASS | intron | 3 | 559 | 2404 | 251 | 57 | 0.2325 | |
1:2415041 C / A | 1 | 2415041 | PLCH2 | n.1019-846C>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2415042 C / A | 1 | 2415042 | PLCH2 | n.1019-845C>A | PASS | intron | 3 | 4 | 2404 | 0 | 4 | 0.001664 | |
1:2415108 T / C (rs114637672) | 1 | 2415108 | PLCH2 | n.1019-779T>C | PASS | intron | 3 | 26 | 2404 | 10 | 6 | 0.01082 | |
1:2415162 A / G | 1 | 2415162 | PLCH2 | n.1019-725A>G | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415192 TGACCCCCGTTTGGGGGGGC... / _ (rs70956306) | 1 | 2415192 | PLCH2 | n.1019-663_1019-642del | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415197 _ / CCCGTGTGGGGGGCGCTGAC... (rs138594264) | 1 | 2415197 | PLCH2 | n.1019-686_1019-685ins(21) | PASS | intron | 3 | 18 | 2404 | 8 | 2 | 0.007488 | |
1:2415197 _ / CCCGTGTGGGGGGCGTTGAC... (rs138594264) | 1 | 2415197 | PLCH2 | n.1019-686_1019-685ins(21) | PASS | intron | 3 | 36 | 2404 | 18 | 0 | 0.01498 | |
1:2415202 T / G (rs78102271) | 1 | 2415202 | PLCH2 | n.1019-685T>G | PASS | intron | 3 | 66 | 2404 | 30 | 6 | 0.02745 | |
1:2415204 G / _ (rs33969102) | 1 | 2415204 | PLCH2 | n.1019-677delG | PASS | intron | 3 | 59 | 2404 | 27 | 5 | 0.02454 | |
1:2415213 C / T (rs188824253) | 1 | 2415213 | PLCH2 | n.1019-674C>T | PASS | intron | 3 | 39 | 2404 | 18 | 3 | 0.01622 | |
1:2415218 C / T (rs114357604) | 1 | 2415218 | PLCH2 | n.1019-669C>T | PASS | intron | 3 | 55 | 2404 | 25 | 5 | 0.02288 | |
1:2415224 T / G (rs114808058) | 1 | 2415224 | PLCH2 | n.1019-663T>G | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415244 G / A (rs373050203) | 1 | 2415244 | PLCH2 | n.1019-643G>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415246 G / T (rs796753614) | 1 | 2415246 | PLCH2 | n.1019-641G>T | PASS | intron | 3 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2415248 G / _ (rs1208429697) | 1 | 2415248 | PLCH2 | n.1019-635delG | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415253 T / _ (rs770285318) | 1 | 2415253 | PLCH2 | n.1019-634delT | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415294 G / C (rs376975970) | 1 | 2415294 | PLCH2 | n.1019-593G>C | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415298 T / G (rs181581602) | 1 | 2415298 | PLCH2 | n.1019-589T>G | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415497 T / C (rs61763948) | 1 | 2415497 | PLCH2 | n.1019-390T>C | PASS | intron | 3 | 44 | 2404 | 20 | 4 | 0.01830 | |
1:2415594 G / T | 1 | 2415594 | PLCH2 | n.1019-293G>T | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415595 T / C | 1 | 2415595 | PLCH2 | n.1019-292T>C | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2415675 G / C (rs58328795) | 1 | 2415675 | PLCH2 | n.1019-212G>C | PASS | intron | 3 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2415725 C / T (rs146706281) | 1 | 2415725 | PLCH2 | n.1019-162C>T | PASS | intron | 3 | 5 | 2404 | 1 | 3 | 0.002080 | |
1:2415751 G / A (rs1448705499) | 1 | 2415751 | PLCH2 | n.1019-136G>A | PASS | intron | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2415883 G / C (rs116547422) | 1 | 2415883 | PLCH2 | n.1019-4G>C | PASS | splice region | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2415913 G / T (rs760323594) | 1 | 2415913 | PLCH2 | n.1045G>T | PASS | non coding exon | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2415916 G / A (rs372926780) | 1 | 2415916 | PLCH2 | n.1048G>A | PASS | non coding exon | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2416044 A / G | 1 | 2416044 | PLCH2 | n.1176A>G | PASS | non coding exon | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2416048 G / A (rs1288077017) | 1 | 2416048 | PLCH2 | n.1180G>A | PASS | non coding exon | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2416063 C / T (rs41315670) | 1 | 2416063 | PLCH2 | n.1189+6C>T | PASS | splice region | 3 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2416103 G / A (rs373526903) | 1 | 2416103 | PLCH2 | n.1189+46G>A | PASS | intron | 3 | 5 | 2404 | 0 | 5 | 0.002080 | |
1:2416132 C / G (rs565850376) | 1 | 2416132 | PLCH2 | n.1189+75C>G | PASS | intron | 3 | 13 | 2404 | 0 | 13 | 0.005408 | |
1:2416357 G / A (rs4648639) | 1 | 2416357 | PLCH2 | n.1189+300G>A | PASS | intron | 3 | 297 | 2404 | 140 | 17 | 0.1235 | |
1:2416375 TG / _ | 1 | 2416375 | PLCH2 | n.1189+320_1189+321delTG | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2416414 C / A | 1 | 2416414 | PLCH2 | n.1189+357C>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2416418 C / A | 1 | 2416418 | PLCH2 | n.1189+361C>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2416517 G / T | 1 | 2416517 | PLCH2 | n.1189+460G>T | PASS | intron | 3 | 5 | 2404 | 2 | 1 | 0.002080 | |
1:2416663 _ / GCTCTCTGGAC (rs70956308) | 1 | 2416663 | PLCH2 | n.1189+608_1189+609insCTCTGGACGCT | PASS | intron | 3 | 428 | 2404 | 201 | 26 | 0.1780 | |
1:2416670 C / A | 1 | 2416670 | PLCH2 | n.1189+613C>A | PASS | intron | 3 | 4 | 2404 | 1 | 2 | 0.001664 | |
1:2416867 G / A (rs539139602) | 1 | 2416867 | PLCH2 | n.1189+810G>A | PASS | intron | 3 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2416889 T / G | 1 | 2416889 | PLCH2 | n.1189+832T>G | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2416928 C / A | 1 | 2416928 | PLCH2 | n.1189+871C>A | PASS | intron | 3 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2417225 G / T | 1 | 2417225 | PLCH2 | n.1190-1121G>T | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2417257 C / A | 1 | 2417257 | PLCH2 | n.1190-1089C>A | PASS | intron | 4 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2417259 G / T (rs1642256120) | 1 | 2417259 | PLCH2 | n.1190-1087G>T | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2417267 C / A | 1 | 2417267 | PLCH2 | n.1190-1079C>A | PASS | intron | 4 | 4 | 2404 | 2 | 0 | 0.001664 | |
1:2417621 C / T (rs376884288) | 1 | 2417621 | PLCH2 | n.1190-725C>T | PASS | intron | 4 | 4 | 2404 | 2 | 0 | 0.001664 | |
1:2417714 G / T | 1 | 2417714 | PLCH2 | n.1190-632G>T | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2417720 T / C (rs1642280139) | 1 | 2417720 | PLCH2 | n.1190-626T>C | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2417858 G / T | 1 | 2417858 | PLCH2 | n.1190-488G>T | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2417868 G / T | 1 | 2417868 | PLCH2 | n.1190-478G>T | PASS | intron | 4 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2417930 G / C (rs114871065) | 1 | 2417930 | PLCH2 | n.1190-416G>C | PASS | intron | 4 | 4 | 2404 | 2 | 0 | 0.001664 | |
1:2417943 C / A | 1 | 2417943 | PLCH2 | n.1190-403C>A | PASS | intron | 4 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2417958 G / A (rs4648640) | 1 | 2417958 | PLCH2 | n.1190-388G>A | PASS | intron | 4 | 685 | 2404 | 300 | 85 | 0.2849 | |
1:2417964 G / T | 1 | 2417964 | PLCH2 | n.1190-382G>T | PASS | intron | 4 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2418450 C / T (rs547401366) | 1 | 2418450 | PLCH2 | n.1283+11C>T | PASS | intron | 4 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2418600 G / A (rs1487604233) | 1 | 2418600 | PLCH2 | n.1284-12G>A | PASS | intron | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2418602 C / T (rs115128681) | 1 | 2418602 | PLCH2 | n.1284-10C>T | PASS | intron | 5 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2418625 C / T (rs7512269) | 1 | 2418625 | PLCH2 | n.1297C>T | PASS | non coding exon | 5 | 174 | 2404 | 10 | 154 | 0.07238 | |
1:2418636 C / T (rs200798028) | 1 | 2418636 | PLCH2 | n.1308C>T | PASS | non coding exon | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2418718 G / A (rs143425245) | 1 | 2418718 | PLCH2 | n.1390G>A | PASS | non coding exon | 5 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2418736 C / G (rs764934413) | 1 | 2418736 | PLCH2 | n.1408C>G | PASS | non coding exon | 5 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2418765 G / A (rs375075004) | 1 | 2418765 | PLCH2 | n.1437G>A | PASS | non coding exon | 5 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2418851 G / A (rs369106682) | 1 | 2418851 | PLCH2 | n.1487+36G>A | PASS | intron | 5 | 11 | 2404 | 0 | 11 | 0.004576 | |
1:2418891 _ / G (rs111260262) | 1 | 2418891 | PLCH2 | n.1487+81dupG | PASS | intron | 5 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2418935 C / T (rs10910082) | 1 | 2418935 | PLCH2 | n.1488-102C>T | PASS | intron | 6 | 1430 | 2404 | 476 | 478 | 0.5948 | |
1:2418973 C / T | 1 | 2418973 | PLCH2 | n.1488-64C>T | PASS | intron | 6 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2419176 C / T (rs533879727) | 1 | 2419176 | PLCH2 | n.1608+19C>T | PASS | intron | 6 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2419184 G / A (rs755979434) | 1 | 2419184 | PLCH2 | n.1608+27G>A | PASS | intron | 6 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2419241 AT / _ (rs568898968) | 1 | 2419241 | PLCH2 | n.1608+84_1608+85delAT | PASS | intron | 6 | 4 | 2404 | 0 | 4 | 0.001664 | |
1:2419339 G / A (rs947767796) | 1 | 2419339 | PLCH2 | n.1608+182G>A | PASS | intron | 6 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2419415 C / G (rs78283022) | 1 | 2419415 | PLCH2 | n.1608+258C>G | PASS | intron | 6 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2419771 G / C (rs113939146) | 1 | 2419771 | PLCH2 | n.1608+614G>C | PASS | intron | 6 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2419805 G / T | 1 | 2419805 | PLCH2 | n.1608+648G>T | PASS | intron | 6 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2419812 G / T | 1 | 2419812 | PLCH2 | n.1608+655G>T | PASS | intron | 6 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2420068 A / G (rs543760297) | 1 | 2420068 | PLCH2 | n.1609-578A>G | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2420098 A / T (rs12753298) | 1 | 2420098 | PLCH2 | n.1609-548A>T | PASS | intron | 7 | 14 | 2404 | 6 | 2 | 0.005824 | |
1:2420287 A / C | 1 | 2420287 | PLCH2 | n.1609-359A>C | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2420296 C / A | 1 | 2420296 | PLCH2 | n.1609-350C>A | PASS | intron | 7 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2420410 C / G (rs80048393) | 1 | 2420410 | PLCH2 | n.1609-236C>G | PASS | intron | 7 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2420557 T / C (rs143302735) | 1 | 2420557 | PLCH2 | n.1609-89T>C | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2420590 T / C (rs10752744) | 1 | 2420590 | PLCH2 | n.1609-56T>C | PASS | intron | 7 | 1799 | 2404 | 685 | 429 | 0.7483 | |
1:2420598 C / A (rs1370300396) | 1 | 2420598 | PLCH2 | n.1609-48C>A | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2420613 C / G (rs191966880) | 1 | 2420613 | PLCH2 | n.1609-33C>G | PASS | intron | 7 | 5 | 2404 | 0 | 5 | 0.002080 | |
1:2420624 TCTT / _ | 1 | 2420624 | PLCH2 | n.1609-19_1609-16delTTCT | PASS | intron | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2420667 C / T (rs182643072) | 1 | 2420667 | PLCH2 | n.1630C>T | PASS | non coding exon | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2420811 C / T (rs368430258) | 1 | 2420811 | PLCH2 | n.1774C>T | PASS | non coding exon | 7 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2420913 A / G (rs6668720) | 1 | 2420913 | PLCH2 | n.1780+96A>G | PASS | intron | 7 | 1566 | 2404 | 536 | 494 | 0.6514 | |
1:2421026 G / A (rs113231490) | 1 | 2421026 | PLCH2 | n.1781-173G>A | PASS | intron | 8 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2421121 C / T (rs12064950) | 1 | 2421121 | PLCH2 | n.1781-78C>T | PASS | intron | 8 | 37 | 2404 | 1 | 35 | 0.01539 | |
1:2421166 A / _ (rs532638534) | 1 | 2421166 | PLCH2 | n.1781-33delA | PASS | intron | 8 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2421233 C / T (rs775258357) | 1 | 2421233 | PLCH2 | n.1815C>T | PASS | non coding exon | 8 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2421279 C / T (rs114931988) | 1 | 2421279 | PLCH2 | n.1861C>T | PASS | non coding exon | 8 | 59 | 2404 | 1 | 57 | 0.02454 | |
1:2421336 C / T (rs373062697) | 1 | 2421336 | PLCH2 | n.1888+30C>T | PASS | intron | 8 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2421406 C / T (rs547154839) | 1 | 2421406 | PLCH2 | n.1888+100C>T | PASS | intron | 8 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2421426 G / A (rs139985173) | 1 | 2421426 | PLCH2 | n.1888+120G>A | PASS | intron | 8 | 8 | 2404 | 0 | 8 | 0.003328 | |
1:2421440 C / T (rs769762747) | 1 | 2421440 | PLCH2 | n.1888+134C>T | PASS | intron | 8 | 4 | 2404 | 1 | 2 | 0.001664 | |
1:2421478 C / A | 1 | 2421478 | PLCH2 | n.1888+172C>A | PASS | intron | 8 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2421649 C / G | 1 | 2421649 | PLCH2 | n.1888+343C>G | PASS | intron | 8 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2421873 G / _ (rs549223075) | 1 | 2421873 | PLCH2 | n.1888+572delG | PASS | intron | 8 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2422458 G / A (rs115840841) | 1 | 2422458 | PLCH2 | n.1889-173G>A | PASS | intron | 9 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2422460 C / T (rs575760823) | 1 | 2422460 | PLCH2 | n.1889-171C>T | PASS | intron | 9 | 14 | 2404 | 2 | 10 | 0.005824 | |
1:2422614 G / A (rs2477699) | 1 | 2422614 | PLCH2 | n.1889-17G>A | PASS | intron | 9 | 1685 | 2404 | 601 | 483 | 0.7009 | |
1:2422638 C / T (rs768338940) | 1 | 2422638 | PLCH2 | n.1896C>T | PASS | non coding exon | 9 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2422650 G / A (rs532800575) | 1 | 2422650 | PLCH2 | n.1908G>A | PASS | non coding exon | 9 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2422747 G / T (rs771029306) | 1 | 2422747 | PLCH2 | n.2005G>T | PASS | non coding exon | 9 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2422750 C / G | 1 | 2422750 | PLCH2 | n.2008C>G | PASS | non coding exon | 9 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2422754 T / C (rs200470299) | 1 | 2422754 | PLCH2 | n.2012T>C | PASS | non coding exon | 9 | 14 | 2404 | 0 | 14 | 0.005824 | |
1:2422859 T / C (rs370793447) | 1 | 2422859 | PLCH2 | n.2032+85T>C | PASS | intron | 9 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2422902 C / G (rs1642578238) | 1 | 2422902 | PLCH2 | n.2032+128C>G | PASS | intron | 9 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2422961 C / T (rs115996135) | 1 | 2422961 | PLCH2 | n.2032+187C>T | PASS | intron | 9 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2423061 G / A (rs144017084) | 1 | 2423061 | PLCH2 | n.2032+287G>A | PASS | intron | 9 | 7 | 2404 | 3 | 1 | 0.002912 | |
1:2423135 G / T | 1 | 2423135 | PLCH2 | n.2032+361G>T | PASS | intron | 9 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2423363 G / C (rs12091002) | 1 | 2423363 | PLCH2 | n.2032+589G>C | PASS | intron | 9 | 4 | 2404 | 2 | 0 | 0.001664 | |
1:2423418 G / A (rs2477700) | 1 | 2423418 | PLCH2 | n.2032+644G>A | PASS | intron | 9 | 4 | 2404 | 2 | 0 | 0.001664 | |
1:2423566 C / G (rs3001349) | 1 | 2423566 | PLCH2 | n.2032+792C>G | PASS | intron | 9 | 504 | 2404 | 240 | 24 | 0.2097 | |
1:2424112 G / A | 1 | 2424112 | PLCH2 | , | n.2032+1338G>A,ENST00000424657 | PASS | intron | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2424122 G / A (rs17373634) | 1 | 2424122 | PLCH2 | , | n.2032+1348G>A,ENST00000424657 | PASS | intron | 45 | 2404 | 15 | 15 | 0.01872 | |
1:2424319 G / A (rs75646104) | 1 | 2424319 | PLCH2 | , | n.2032+1545G>A,ENST00000424657 | PASS | intron | 24 | 2404 | 8 | 8 | 0.009983 | |
1:2424417 T / C (rs2477701) | 1 | 2424417 | PLCH2 | , | n.2032+1643T>C,ENST00000424657 | PASS | intron | 596 | 2404 | 282 | 32 | 0.2479 | |
1:2424427 G / T | 1 | 2424427 | PLCH2 | , | n.2032+1653G>T,ENST00000424657 | PASS | intron | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2424457 C / A | 1 | 2424457 | PLCH2 | , | n.2032+1683C>A,ENST00000424657 | PASS | intron | 4 | 2404 | 2 | 0 | 0.001664 | |
1:2424589 G / T | 1 | 2424589 | PLCH2 | , | n.2033-1706G>T,ENST00000424657 | PASS | intron | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2424602 G / T | 1 | 2424602 | PLCH2 | , | n.2033-1693G>T,ENST00000424657 | PASS | intron | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2424747 T / C | 1 | 2424747 | PLCH2 | n.2033-1548T>C | PASS | intron | 10 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2424765 G / A (rs12409875) | 1 | 2424765 | PLCH2 | n.2033-1530G>A | PASS | intron | 10 | 240 | 2404 | 102 | 36 | 0.09983 | |
1:2424831 G / A (rs147712931) | 1 | 2424831 | PLCH2 | n.2033-1464G>A | PASS | intron | 10 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2424894 T / C (rs2477702) | 1 | 2424894 | PLCH2 | , | n.2033-1401T>C,ENST00000442305 | PASS | intron | 210 | 2404 | 89 | 32 | 0.08735 | |
1:2425048 T / C (rs142544876) | 1 | 2425048 | PLCH2 | , | n.2033-1247T>C,ENST00000442305 | PASS | intron | 4 | 2404 | 1 | 2 | 0.001664 | |
1:2425174 G / A (rs572375388) | 1 | 2425174 | PLCH2 | , | n.2033-1121G>A,ENST00000442305 | PASS | intron | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2425244 C / A (rs577807281) | 1 | 2425244 | PLCH2 | , | n.2033-1051C>A,ENST00000442305 | PASS | intron | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2425392 G / T | 1 | 2425392 | PLCH2 | , | n.2033-903G>T,ENST00000442305 | PASS | intron | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2425406 G / T | 1 | 2425406 | PLCH2 | , | n.2033-889G>T,ENST00000442305 | PASS | intron | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2425459 C / A | 1 | 2425459 | PLCH2 | , | n.2033-836C>A,ENST00000442305 | PASS | intron | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2425992 C / T (rs2477703) | 1 | 2425992 | PLCH2 | n.2033-303C>T | PASS | intron | 10 | 810 | 2404 | 366 | 78 | 0.3369 | |
1:2426017 C / T (rs544702745) | 1 | 2426017 | PLCH2 | n.2033-278C>T | PASS | intron | 10 | 4 | 2404 | 0 | 4 | 0.001664 | |
1:2426035 C / T (rs757005264) | 1 | 2426035 | PLCH2 | n.2033-260C>T | PASS | intron | 10 | 5 | 2404 | 0 | 5 | 0.002080 | |
1:2426047 C / T (rs72644648) | 1 | 2426047 | PLCH2 | n.2033-248C>T | PASS | intron | 10 | 10 | 2404 | 2 | 6 | 0.004160 | |
1:2426048 C / T (rs374011784) | 1 | 2426048 | PLCH2 | n.2033-247C>T | PASS | intron | 10 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426143 G / A (rs376086177) | 1 | 2426143 | PLCH2 | n.2033-152G>A | PASS | intron | 10 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2426143 G / C (rs376086177) | 1 | 2426143 | PLCH2 | n.2033-152G>C | PASS | intron | 10 | 21 | 2404 | 0 | 21 | 0.008735 | |
1:2426149 C / A (rs2182177) | 1 | 2426149 | PLCH2 | n.2033-146C>A | PASS | intron | 10 | 557 | 2404 | 102 | 353 | 0.2317 | |
1:2426248 G / C (rs41307848) | 1 | 2426248 | PLCH2 | n.2033-47G>C | PASS | intron | 10 | 52 | 2404 | 1 | 50 | 0.02163 | |
1:2426264 C / T (rs181706351) | 1 | 2426264 | PLCH2 | n.2033-31C>T | PASS | intron | 10 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426312 C / T (rs773430055) | 1 | 2426312 | PLCH2 | n.2050C>T | PASS | non coding exon | 10 | 5 | 2404 | 0 | 5 | 0.002080 | |
1:2426313 G / A (rs79885852) | 1 | 2426313 | PLCH2 | n.2051G>A | PASS | non coding exon | 10 | 23 | 2404 | 0 | 23 | 0.009567 | |
1:2426323 G / A | 1 | 2426323 | PLCH2 | n.2061G>A | PASS | non coding exon | 10 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426334 G / A (rs751286937) | 1 | 2426334 | PLCH2 | n.2072G>A | PASS | non coding exon | 10 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2426346 C / T (rs567604431) | 1 | 2426346 | PLCH2 | n.2084C>T | PASS | non coding exon | 10 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2426417 G / A (rs368064292) | 1 | 2426417 | PLCH2 | n.2125+30G>A | PASS | intron | 10 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426429 GTGTCCTCCCTGCTCCCAGT... / _ (rs774037572) | 1 | 2426429 | PLCH2 | n.2125+92_2125+116del | PASS | intron | 10 | 41 | 2404 | 2 | 37 | 0.01705 | |
1:2426453 C / T (rs1041936177) | 1 | 2426453 | PLCH2 | n.2125+66C>T | PASS | intron | 10 | 1 | 2368 | 0 | 1 | 0.0004223 | |
1:2426490 G / _ | 1 | 2426490 | PLCH2 | n.2125+103delG | PASS | intron | 10 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426598 C / G (rs16825139) | 1 | 2426598 | PLCH2 | n.2125+211C>G | PASS | intron | 10 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2426641 C / T (rs529794011) | 1 | 2426641 | PLCH2 | n.2125+254C>T | PASS | intron | 10 | 9 | 2404 | 4 | 1 | 0.003744 | |
1:2426677 T / C (rs377565644) | 1 | 2426677 | PLCH2 | n.2126-250T>C | PASS | intron | 11 | 15 | 2404 | 1 | 13 | 0.006240 | |
1:2426685 C / G (rs1328989020) | 1 | 2426685 | PLCH2 | n.2126-242C>G | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426689 C / T (rs12022393) | 1 | 2426689 | PLCH2 | n.2126-238C>T | PASS | intron | 11 | 297 | 2404 | 79 | 139 | 0.1235 | |
1:2426757 C / T (rs3001348) | 1 | 2426757 | PLCH2 | n.2126-170C>T | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426766 A / G (rs3001347) | 1 | 2426766 | PLCH2 | n.2126-161A>G | PASS | intron | 11 | 1004 | 2404 | 288 | 428 | 0.4176 | |
1:2426768 C / T (rs572662588) | 1 | 2426768 | PLCH2 | n.2126-159C>T | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426796 C / T (rs1260277656) | 1 | 2426796 | PLCH2 | n.2126-131C>T | PASS | intron | 11 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2426813 G / C (rs191049391) | 1 | 2426813 | PLCH2 | n.2126-114G>C | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426820 G / A | 1 | 2426820 | PLCH2 | n.2126-107G>A | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426834 C / T (rs367564304) | 1 | 2426834 | PLCH2 | n.2126-93C>T | PASS | intron | 11 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2426836 C / T (rs1009726057) | 1 | 2426836 | PLCH2 | n.2126-91C>T | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426853 C / T (rs560811127) | 1 | 2426853 | PLCH2 | n.2126-74C>T | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426855 A / C (rs1180839082) | 1 | 2426855 | PLCH2 | n.2126-72A>C | PASS | intron | 11 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2426856 A / C | 1 | 2426856 | PLCH2 | n.2126-71A>C | PASS | intron | 11 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2426857 C / T (rs1642828829) | 1 | 2426857 | PLCH2 | n.2126-70C>T | PASS | intron | 11 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2426862 C / G (rs371332465) | 1 | 2426862 | PLCH2 | n.2126-65C>G | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426863 A / C | 1 | 2426863 | PLCH2 | n.2126-64A>C | PASS | intron | 11 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2426873 A / C | 1 | 2426873 | PLCH2 | n.2126-54A>C | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2426912 C / T (rs1436727215) | 1 | 2426912 | PLCH2 | n.2126-15C>T | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2427017 C / T (rs767684394) | 1 | 2427017 | PLCH2 | n.2208+8C>T | PASS | splice region | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2427079 C / T (rs928973187) | 1 | 2427079 | PLCH2 | n.2208+70C>T | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2427081 G / A | 1 | 2427081 | PLCH2 | n.2208+72G>A | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2427157 G / T | 1 | 2427157 | PLCH2 | n.2208+148G>T | PASS | intron | 11 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2427209 G / _ | 1 | 2427209 | PLCH2 | n.2208+201delG | PASS | intron | 11 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2427328 G / A (rs965326290) | 1 | 2427328 | PLCH2 | n.2208+319G>A | PASS | intron | 11 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2427340 T / C (rs3762442) | 1 | 2427340 | PLCH2 | n.2208+331T>C | PASS | intron | 11 | 223 | 2404 | 83 | 57 | 0.09276 | |
1:2427359 C / A | 1 | 2427359 | PLCH2 | n.2208+350C>A | PASS | intron | 11 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2427368 T / C (rs3762443) | 1 | 2427368 | PLCH2 | n.2208+359T>C | PASS | intron | 11 | 186 | 2404 | 66 | 54 | 0.07737 | |
1:2427562 G / A (rs1451716657) | 1 | 2427562 | PLCH2 | n.2209-484G>A | PASS | intron | 12 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2427669 C / T (rs571093109) | 1 | 2427669 | PLCH2 | n.2209-377C>T | PASS | intron | 12 | 8 | 2404 | 3 | 2 | 0.003328 | |
1:2427694 G / A | 1 | 2427694 | PLCH2 | n.2209-352G>A | PASS | intron | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2427707 C / A (rs1642877470) | 1 | 2427707 | PLCH2 | n.2209-339C>A | PASS | intron | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2427712 C / T (rs3762444) | 1 | 2427712 | PLCH2 | n.2209-334C>T | PASS | intron | 12 | 435 | 2404 | 176 | 83 | 0.1809 | |
1:2427977 C / T (rs541927807) | 1 | 2427977 | PLCH2 | n.2209-69C>T | PASS | intron | 12 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2428012 C / T (rs746613508) | 1 | 2428012 | PLCH2 | n.2209-34C>T | PASS | intron | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428039 G / A (rs376591308) | 1 | 2428039 | PLCH2 | n.2209-7G>A | PASS | splice region | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428046 G / C (rs1291121226) | 1 | 2428046 | PLCH2 | n.2209G>C | PASS | splice region | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428121 C / T (rs149662903) | 1 | 2428121 | PLCH2 | n.2284C>T | PASS | non coding exon | 12 | 20 | 2404 | 0 | 20 | 0.008319 | |
1:2428154 C / T (rs778361340) | 1 | 2428154 | PLCH2 | n.2306+11C>T | PASS | intron | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428174 C / T (rs535851864) | 1 | 2428174 | PLCH2 | n.2306+31C>T | PASS | intron | 12 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428214 C / T (rs1025999443) | 1 | 2428214 | PLCH2 | n.2307-53C>T | PASS | intron | 13 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428215 G / A (rs908549507) | 1 | 2428215 | PLCH2 | n.2307-52G>A | PASS | intron | 13 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2428222 G / A (rs376034437) | 1 | 2428222 | PLCH2 | n.2307-45G>A | PASS | intron | 13 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2428260 G / A (rs1247921381) | 1 | 2428260 | PLCH2 | n.2307-7G>A | PASS | splice region | 13 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428271 G / T | 1 | 2428271 | PLCH2 | n.2311G>T | PASS | non coding exon | 13 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428423 C / T | 1 | 2428423 | PLCH2 | n.2463C>T | PASS | non coding exon | 13 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428468 C / T (rs369857176) | 1 | 2428468 | PLCH2 | n.2489+19C>T | PASS | intron | 13 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2428482 G / A (rs1390610794) | 1 | 2428482 | PLCH2 | n.2489+33G>A | PASS | intron | 13 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428484 G / A (rs144425210) | 1 | 2428484 | PLCH2 | n.2489+35G>A | PASS | intron | 13 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2428512 C / T | 1 | 2428512 | PLCH2 | n.2489+63C>T | PASS | intron | 13 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428534 C / T (rs116976704) | 1 | 2428534 | PLCH2 | n.2489+85C>T | PASS | intron | 13 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2428568 C / T (rs1642939194) | 1 | 2428568 | PLCH2 | n.2489+119C>T | PASS | intron | 13 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428719 C / T (rs2477705) | 1 | 2428719 | PLCH2 | n.2490-222C>T | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428740 C / T (rs139481477) | 1 | 2428740 | PLCH2 | n.2490-201C>T | PASS | intron | 14 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2428745 A / T (rs553084929) | 1 | 2428745 | PLCH2 | n.2490-196A>T | PASS | intron | 14 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2428820 A / T (rs771895356) | 1 | 2428820 | PLCH2 | n.2490-121A>T | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428829 C / T (rs537455794) | 1 | 2428829 | PLCH2 | n.2490-112C>T | PASS | intron | 14 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2428874 T / C (rs2477706) | 1 | 2428874 | PLCH2 | n.2490-67T>C | PASS | intron | 14 | 1761 | 2404 | 658 | 445 | 0.7325 | |
1:2428879 _ / GGGGGTGGTTGGGGGGGGGG... | 1 | 2428879 | PLCH2 | n.2490-60_2490-59ins(27) | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428882 C / G (rs541107303) | 1 | 2428882 | PLCH2 | n.2490-59C>G | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428885 G / A (rs921560641) | 1 | 2428885 | PLCH2 | n.2490-56G>A | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2428999 C / T (rs369019288) | 1 | 2428999 | PLCH2 | n.2548C>T | PASS | non coding exon | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429043 G / C | 1 | 2429043 | PLCH2 | n.2592G>C | PASS | non coding exon | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429078 C / G (rs372870964) | 1 | 2429078 | PLCH2 | n.2597+30C>G | PASS | intron | 14 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2429078 C / T (rs372870964) | 1 | 2429078 | PLCH2 | n.2597+30C>T | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429119 G / C (rs571668639) | 1 | 2429119 | PLCH2 | n.2597+71G>C | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429124 C / T (rs530877932) | 1 | 2429124 | PLCH2 | n.2597+76C>T | PASS | intron | 14 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2429155 G / A | 1 | 2429155 | PLCH2 | n.2597+107G>A | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429156 C / A (rs1410091096) | 1 | 2429156 | PLCH2 | n.2597+108C>A | PASS | intron | 14 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2429186 G / A (rs1005338536) | 1 | 2429186 | PLCH2 | n.2597+138G>A | PASS | intron | 14 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429722 G / A (rs77150946) | 1 | 2429722 | PLCH2 | n.2598-240G>A | PASS | intron | 15 | 6 | 2404 | 2 | 2 | 0.002496 | |
1:2429861 C / T (rs965994695) | 1 | 2429861 | PLCH2 | n.2598-101C>T | PASS | intron | 15 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429897 T / C (rs557660093) | 1 | 2429897 | PLCH2 | n.2598-65T>C | PASS | intron | 15 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429970 A / G | 1 | 2429970 | PLCH2 | n.2606A>G | PASS | non coding exon | 15 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2429996 C / T (rs370514223) | 1 | 2429996 | PLCH2 | n.2632C>T | PASS | non coding exon | 15 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430087 _ / GTGGGGGCC (rs142848828) | 1 | 2430087 | PLCH2 | n.2722+1_2722+9dupGTGGGGGCC | PASS | intron | 15 | 74 | 2404 | 6 | 62 | 0.03078 | |
1:2430131 C / T (rs779564914) | 1 | 2430131 | PLCH2 | n.2722+45C>T | PASS | intron | 15 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2430163 C / T (rs1643038417) | 1 | 2430163 | PLCH2 | n.2723-20C>T | PASS | intron | 16 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430169 CTC / _ (rs778679221) | 1 | 2430169 | PLCH2 | n.2723-12_2723-10delCCT | PASS | intron | 16 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2430250 G / A (rs756848274) | 1 | 2430250 | PLCH2 | n.2790G>A | PASS | non coding exon | 16 | 5 | 2404 | 0 | 5 | 0.002080 | |
1:2430289 G / A (rs372036848) | 1 | 2430289 | PLCH2 | n.2807+22G>A | PASS | intron | 16 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2430309 C / T (rs764525227) | 1 | 2430309 | PLCH2 | n.2807+42C>T | PASS | intron | 16 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430316 G / C (rs749097711) | 1 | 2430316 | PLCH2 | n.2807+49G>C | PASS | intron | 16 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2430351 C / A (rs536204307) | 1 | 2430351 | PLCH2 | n.2807+84C>A | PASS | intron | 16 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2430376 T / C (rs759444653) | 1 | 2430376 | PLCH2 | n.2807+109T>C | PASS | intron | 16 | 4 | 2404 | 0 | 4 | 0.001664 | |
1:2430421 C / A (rs929880885) | 1 | 2430421 | PLCH2 | n.2808-102C>A | PASS | intron | 17 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430422 G / A (rs1048269209) | 1 | 2430422 | PLCH2 | n.2808-101G>A | PASS | intron | 17 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430470 G / T (rs150434758) | 1 | 2430470 | PLCH2 | n.2808-53G>T | PASS | intron | 17 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430509 C / T (rs763234324) | 1 | 2430509 | PLCH2 | n.2808-14C>T | PASS | intron | 17 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430617 C / T (rs2296442) | 1 | 2430617 | PLCH2 | n.2902C>T | PASS | non coding exon | 17 | 1067 | 2404 | 250 | 567 | 0.4438 | |
1:2430668 A / T | 1 | 2430668 | PLCH2 | n.2953A>T | PASS | splice region | 17 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430678 G / A (rs373170802) | 1 | 2430678 | PLCH2 | n.2954+9G>A | PASS | intron | 17 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430870 C / T (rs570931318) | 1 | 2430870 | PLCH2 | n.2954+201C>T | PASS | intron | 17 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2430871 C / G (rs112080027) | 1 | 2430871 | PLCH2 | n.2954+202C>G | PASS | intron | 17 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2430909 G / T (rs1201837839) | 1 | 2430909 | PLCH2 | n.2955-171G>T | PASS | intron | 18 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2430925 _ / G (rs1461918418) | 1 | 2430925 | PLCH2 | n.2955-152dupG | PASS | intron | 18 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2431049 C / T | 1 | 2431049 | PLCH2 | n.2955-31C>T | PASS | intron | 18 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2431057 C / T (rs2477707) | 1 | 2431057 | PLCH2 | n.2955-23C>T | PASS | intron | 18 | 565 | 2404 | 80 | 405 | 0.2350 | |
1:2431099 A / G (rs145549953) | 1 | 2431099 | PLCH2 | n.2974A>G | PASS | non coding exon | 18 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2431102 A / G (rs138167803) | 1 | 2431102 | PLCH2 | n.2977A>G | PASS | non coding exon | 18 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2431112 G / A (rs922486332) | 1 | 2431112 | PLCH2 | n.2987G>A | PASS | non coding exon | 18 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2431162 G / C | 1 | 2431162 | PLCH2 | n.3034+3G>C | PASS | splice region | 18 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2431165 TGTC / _ | 1 | 2431165 | PLCH2 | n.3034+6_3034+9delTGTC | PASS | splice region | 18 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2431170 CCCCC / _ | 1 | 2431170 | PLCH2 | n.3034+11_3034+15delCCCCC | PASS | intron | 18 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2431228 C / T | 1 | 2431228 | PLCH2 | n.3034+69C>T | PASS | intron | 18 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2431308 A / C (rs1643121476) | 1 | 2431308 | PLCH2 | n.3034+149A>C | PASS | intron | 18 | 5 | 2404 | 0 | 5 | 0.002080 | |
1:2431378 G / T | 1 | 2431378 | PLCH2 | n.3034+219G>T | PASS | intron | 18 | 5 | 2404 | 1 | 3 | 0.002080 | |
1:2431798 C / T | 1 | 2431798 | PLCH2 | n.3034+639C>T | PASS | intron | 18 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2431813 C / T (rs148251096) | 1 | 2431813 | PLCH2 | n.3034+654C>T | PASS | intron | 18 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2431854 C / T (rs141189511) | 1 | 2431854 | PLCH2 | n.3034+695C>T | PASS | intron | 18 | 8 | 2404 | 2 | 4 | 0.003328 | |
1:2432002 G / T | 1 | 2432002 | PLCH2 | n.3034+843G>T | PASS | intron | 18 | 6 | 2404 | 2 | 2 | 0.002496 | |
1:2432089 G / T | 1 | 2432089 | PLCH2 | n.3034+930G>T | PASS | intron | 18 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2432129 C / T (rs760454902) | 1 | 2432129 | PLCH2 | n.3034+970C>T | PASS | intron | 18 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2432196 C / T (rs117777962) | 1 | 2432196 | PLCH2 | n.3034+1037C>T | PASS | intron | 18 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2432331 C / A (rs4648641) | 1 | 2432331 | PLCH2 | n.3034+1172C>A | PASS | intron | 18 | 21 | 2404 | 9 | 3 | 0.008735 | |
1:2432440 T / C | 1 | 2432440 | PLCH2 | n.3035-1111T>C | PASS | intron | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2432441 G / T | 1 | 2432441 | PLCH2 | n.3035-1110G>T | PASS | intron | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2432464 A / C (rs2477708) | 1 | 2432464 | PLCH2 | n.3035-1087A>C | PASS | intron | 19 | 333 | 2404 | 117 | 99 | 0.1385 | |
1:2432471 G / A (rs1318767729) | 1 | 2432471 | PLCH2 | n.3035-1080G>A | PASS | intron | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2432535 G / A (rs76313530) | 1 | 2432535 | PLCH2 | n.3035-1016G>A | PASS | intron | 19 | 6 | 2404 | 2 | 2 | 0.002496 | |
1:2432546 C / A | 1 | 2432546 | PLCH2 | n.3035-1005C>A | PASS | intron | 19 | 6 | 2404 | 2 | 2 | 0.002496 | |
1:2432749 G / A (rs12096577) | 1 | 2432749 | PLCH2 | n.3035-802G>A | PASS | intron | 19 | 211 | 2404 | 85 | 41 | 0.08777 | |
1:2432758 A / T (rs1643214251) | 1 | 2432758 | PLCH2 | n.3035-793A>T | PASS | intron | 19 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2432762 G / A (rs4648642) | 1 | 2432762 | PLCH2 | n.3035-789G>A | PASS | intron | 19 | 395 | 2404 | 170 | 55 | 0.1643 | |
1:2432772 C / A | 1 | 2432772 | PLCH2 | n.3035-779C>A | PASS | intron | 19 | 3 | 2404 | 1 | 1 | 0.001248 | |
1:2433111 G / T | 1 | 2433111 | PLCH2 | n.3035-440G>T | PASS | intron | 19 | 5 | 2404 | 2 | 1 | 0.002080 | |
1:2433133 C / A (rs140019986) | 1 | 2433133 | PLCH2 | n.3035-418C>A | PASS | intron | 19 | 11 | 2404 | 2 | 7 | 0.004576 | |
1:2433338 G / A (rs529521388) | 1 | 2433338 | PLCH2 | n.3035-213G>A | PASS | intron | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433440 C / T (rs913568745) | 1 | 2433440 | PLCH2 | n.3035-111C>T | PASS | intron | 19 | 16 | 2404 | 0 | 16 | 0.006656 | |
1:2433456 C / T (rs547705415) | 1 | 2433456 | PLCH2 | n.3035-95C>T | PASS | intron | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433467 C / T (rs1215029847) | 1 | 2433467 | PLCH2 | n.3035-84C>T | PASS | intron | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2433517 C / T (rs771866566) | 1 | 2433517 | PLCH2 | n.3035-34C>T | PASS | intron | 19 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2433601 C / T (rs184570171) | 1 | 2433601 | PLCH2 | n.3085C>T | PASS | non coding exon | 19 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2433629 C / T (rs189336246) | 1 | 2433629 | PLCH2 | n.3113C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433636 C / T (rs202014893) | 1 | 2433636 | PLCH2 | n.3120C>T | PASS | non coding exon | 19 | 4 | 2404 | 0 | 4 | 0.001664 | |
1:2433642 G / T (rs148560510) | 1 | 2433642 | PLCH2 | n.3126G>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433676 G / A (rs1335319392) | 1 | 2433676 | PLCH2 | n.3160G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433678 C / G | 1 | 2433678 | PLCH2 | n.3162C>G | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433682 C / T (rs988843633) | 1 | 2433682 | PLCH2 | n.3166C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433743 C / T (rs771867177) | 1 | 2433743 | PLCH2 | n.3227C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433793 C / T (rs566042621) | 1 | 2433793 | PLCH2 | n.3277C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433823 G / A (rs1271488959) | 1 | 2433823 | PLCH2 | n.3307G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433864 C / T (rs1481896311) | 1 | 2433864 | PLCH2 | n.3348C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433894 G / A (rs55874156) | 1 | 2433894 | PLCH2 | n.3378G>A | PASS | non coding exon | 19 | 54 | 2404 | 1 | 52 | 0.02246 | |
1:2433900 C / T (rs12736998) | 1 | 2433900 | PLCH2 | n.3384C>T | PASS | non coding exon | 19 | 1115 | 2404 | 273 | 569 | 0.4638 | |
1:2433914 G / A (rs187593339) | 1 | 2433914 | PLCH2 | n.3398G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433949 G / T (rs1050223192) | 1 | 2433949 | PLCH2 | n.3433G>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2433974 G / A (rs141214636) | 1 | 2433974 | PLCH2 | n.3458G>A | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2433975 G / A (rs145016673) | 1 | 2433975 | PLCH2 | n.3459G>A | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2433976 C / T (rs529444887) | 1 | 2433976 | PLCH2 | n.3460C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434037 G / A (rs1419921594) | 1 | 2434037 | PLCH2 | n.3521G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434038 C / G | 1 | 2434038 | PLCH2 | n.3522C>G | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434059 G / C | 1 | 2434059 | PLCH2 | n.3543G>C | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434075 A / G (rs761029213) | 1 | 2434075 | PLCH2 | n.3559A>G | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434075 A / T (rs761029213) | 1 | 2434075 | PLCH2 | n.3559A>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434167 C / T (rs760026809) | 1 | 2434167 | PLCH2 | n.3651C>T | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2434173 G / A (rs548902336) | 1 | 2434173 | PLCH2 | n.3657G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434178 G / A (rs565895661) | 1 | 2434178 | PLCH2 | n.3662G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434215 C / T (rs756013241) | 1 | 2434215 | PLCH2 | n.3699C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434233 C / T (rs1296077724) | 1 | 2434233 | PLCH2 | n.3717C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434266 C / T (rs767690024) | 1 | 2434266 | PLCH2 | n.3750C>T | PASS | non coding exon | 19 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2434381 G / A (rs962022377) | 1 | 2434381 | PLCH2 | n.3865G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434428 C / T (rs751130009) | 1 | 2434428 | PLCH2 | n.3912C>T | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2434449 T / C | 1 | 2434449 | PLCH2 | n.3933T>C | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434460 G / T (rs558057709) | 1 | 2434460 | PLCH2 | n.3944G>T | PASS | non coding exon | 19 | 8 | 2404 | 0 | 8 | 0.003328 | |
1:2434487 C / T (rs530879785) | 1 | 2434487 | PLCH2 | n.3971C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434488 G / A (rs199817463) | 1 | 2434488 | PLCH2 | n.3972G>A | PASS | non coding exon | 19 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2434599 G / A (rs577928989) | 1 | 2434599 | PLCH2 | n.4083G>A | PASS | non coding exon | 19 | 7 | 2404 | 0 | 7 | 0.002912 | |
1:2434739 G / T | 1 | 2434739 | PLCH2 | n.4223G>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434744 C / T (rs3814298) | 1 | 2434744 | PLCH2 | n.4228C>T | PASS | non coding exon | 19 | 404 | 2404 | 108 | 188 | 0.1681 | |
1:2434760 C / T | 1 | 2434760 | PLCH2 | n.4244C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434854 G / A (rs982063962) | 1 | 2434854 | PLCH2 | n.4338G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434893 _ / GGGCCCCA | 1 | 2434893 | PLCH2 | n.4381_4388dupCCCAGGGC | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434903 G / A | 1 | 2434903 | PLCH2 | n.4387G>A | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2434958 G / A (rs1448737513) | 1 | 2434958 | PLCH2 | n.4442G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2434972 C / T (rs367597512) | 1 | 2434972 | PLCH2 | n.4456C>T | PASS | non coding exon | 19 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2434998 C / T (rs1643355808) | 1 | 2434998 | PLCH2 | n.4482C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435072 G / T (rs138561253) | 1 | 2435072 | PLCH2 | n.4556G>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435101 G / A (rs182736555) | 1 | 2435101 | PLCH2 | n.4585G>A | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2435141 C / T (rs924922332) | 1 | 2435141 | PLCH2 | n.4625C>T | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2435189 G / C (rs372098913) | 1 | 2435189 | PLCH2 | n.4673G>C | PASS | non coding exon | 19 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2435263 A / G (rs990391367) | 1 | 2435263 | PLCH2 | n.4747A>G | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435275 C / T (rs572030848) | 1 | 2435275 | PLCH2 | n.4759C>T | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2435278 C / T (rs1643373955) | 1 | 2435278 | PLCH2 | n.4762C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435349 A / C (rs781372970) | 1 | 2435349 | PLCH2 | n.4833A>C | PASS | non coding exon | 19 | 67 | 2404 | 0 | 67 | 0.02787 | |
1:2435352 T / C (rs1377858966) | 1 | 2435352 | PLCH2 | n.4836T>C | PASS | non coding exon | 19 | 66 | 2404 | 0 | 66 | 0.02745 | |
1:2435357 A / C (rs1245532346) | 1 | 2435357 | PLCH2 | n.4841A>C | PASS | non coding exon | 19 | 33 | 2404 | 0 | 33 | 0.01373 | |
1:2435357 ACAGACA / _ (rs1304802827) | 1 | 2435357 | PLCH2 | n.4841_4847delACAGACA | PASS | non coding exon | 19 | 12 | 2404 | 0 | 12 | 0.004992 | |
1:2435359 A / C (rs1283380491) | 1 | 2435359 | PLCH2 | n.4843A>C | PASS | non coding exon | 19 | 7 | 2404 | 0 | 7 | 0.002912 | |
1:2435360 G / C (rs1354072065) | 1 | 2435360 | PLCH2 | n.4844G>C | PASS | non coding exon | 19 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2435367 G / C (rs1239480928) | 1 | 2435367 | PLCH2 | n.4851G>C | PASS | non coding exon | 19 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2435460 C / T (rs528365045) | 1 | 2435460 | PLCH2 | n.4944C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435513 G / A (rs373840867) | 1 | 2435513 | PLCH2 | n.4997G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435521 T / C (rs376460092) | 1 | 2435521 | PLCH2 | n.5005T>C | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2435545 T / C (rs978188253) | 1 | 2435545 | PLCH2 | n.5029T>C | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435581 C / T (rs1023209948) | 1 | 2435581 | PLCH2 | n.5065C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435673 T / C | 1 | 2435673 | PLCH2 | n.5157T>C | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2435677 A / G (rs774323620) | 1 | 2435677 | PLCH2 | n.5161A>G | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435694 G / A (rs542640262) | 1 | 2435694 | PLCH2 | n.5178G>A | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2435719 A / G (rs757897156) | 1 | 2435719 | PLCH2 | n.5203A>G | PASS | non coding exon | 19 | 4 | 2404 | 0 | 4 | 0.001664 | |
1:2435738 G / A (rs114371513) | 1 | 2435738 | PLCH2 | n.5222G>A | PASS | non coding exon | 19 | 51 | 2404 | 2 | 47 | 0.02121 | |
1:2435776 G / A (rs149300848) | 1 | 2435776 | PLCH2 | n.5260G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435797 G / A (rs1382627348) | 1 | 2435797 | PLCH2 | n.5281G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435798 C / T (rs199730125) | 1 | 2435798 | PLCH2 | n.5282C>T | PASS | non coding exon | 19 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2435828 G / A (rs368558349) | 1 | 2435828 | PLCH2 | n.5312G>A | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2435872 C / T (rs200369249) | 1 | 2435872 | PLCH2 | n.5356C>T | PASS | non coding exon | 19 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2435930 A / G (rs921992917) | 1 | 2435930 | PLCH2 | n.5414A>G | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2435971 C / T (rs1171088285) | 1 | 2435971 | PLCH2 | n.5455C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2435975 C / T (rs760979954) | 1 | 2435975 | PLCH2 | n.5459C>T | PASS | non coding exon | 19 | 6 | 2404 | 0 | 6 | 0.002496 | |
1:2435995 C / T (rs752216343) | 1 | 2435995 | PLCH2 | n.5479C>T | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2436009 A / G | 1 | 2436009 | PLCH2 | n.5493A>G | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436010 C / T (rs201982091) | 1 | 2436010 | PLCH2 | n.5494C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436024 C / T (rs111549040) | 1 | 2436024 | PLCH2 | n.5508C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436082 G / A (rs1206665960) | 1 | 2436082 | PLCH2 | n.5566G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436092 C / T | 1 | 2436092 | PLCH2 | n.5576C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436101 C / T (rs575485063) | 1 | 2436101 | PLCH2 | n.5585C>T | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2436214 C / T (rs371610773) | 1 | 2436214 | PLCH2 | n.5698C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436250 G / A (rs532007680) | 1 | 2436250 | PLCH2 | n.5734G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436256 G / A (rs138038983) | 1 | 2436256 | PLCH2 | n.5740G>A | PASS | non coding exon | 19 | 77 | 2404 | 1 | 75 | 0.03203 | |
1:2436271 G / A (rs143400582) | 1 | 2436271 | PLCH2 | n.5755G>A | PASS | non coding exon | 19 | 10 | 2404 | 0 | 10 | 0.004160 | |
1:2436288 G / A (rs373714834) | 1 | 2436288 | PLCH2 | n.5772G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436303 A / C (rs79405490) | 1 | 2436303 | PLCH2 | n.5787A>C | PASS | non coding exon | 19 | 51 | 2404 | 1 | 49 | 0.02121 | |
1:2436348 C / T (rs760768385) | 1 | 2436348 | PLCH2 | n.5832C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436404 G / C (rs113392853) | 1 | 2436404 | PLCH2 | n.5888G>C | PASS | non coding exon | 19 | 26 | 2404 | 1 | 24 | 0.01082 | |
1:2436408 G / A (rs374511532) | 1 | 2436408 | PLCH2 | n.5892G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436424 C / T (rs1445390448) | 1 | 2436424 | PLCH2 | n.5908C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436434 C / T (rs752106843) | 1 | 2436434 | PLCH2 | n.5918C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436436 C / T (rs762468190) | 1 | 2436436 | PLCH2 | n.5920C>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436461 C / T (rs545946096) | 1 | 2436461 | PLCH2 | n.5945C>T | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2436489 T / G (rs200148931) | 1 | 2436489 | PLCH2 | n.5973T>G | PASS | non coding exon | 19 | 3 | 2404 | 0 | 3 | 0.001248 | |
1:2436567 G / A | 1 | 2436567 | PLCH2 | n.6051G>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436605 G / A (rs148616986) | 1 | 2436605 | PLCH2 | n.6089G>A | PASS | non coding exon | 19 | 2 | 2404 | 1 | 0 | 0.0008319 | |
1:2436649 C / T (rs551671251) | 1 | 2436649 | PLCH2 | n.6133C>T | PASS | non coding exon | 19 | 6 | 2404 | 1 | 4 | 0.002496 | |
1:2436654 C / T (rs759018684) | 1 | 2436654 | PLCH2 | n.6138C>T | PASS | non coding exon | 19 | 2 | 2404 | 0 | 2 | 0.0008319 | |
1:2436778 A / G (rs12219) | 1 | 2436778 | PLCH2 | n.6262A>G | PASS | non coding exon | 19 | 348 | 2404 | 112 | 124 | 0.1448 | |
1:2436782 C / A | 1 | 2436782 | PLCH2 | n.6266C>A | PASS | non coding exon | 19 | 4 | 2404 | 1 | 2 | 0.001664 | |
1:2436789 C / A | 1 | 2436789 | PLCH2 | n.6273C>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436798 C / A | 1 | 2436798 | PLCH2 | n.6282C>A | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 | |
1:2436885 G / T | 1 | 2436885 | PLCH2 | n.6369G>T | PASS | non coding exon | 19 | 1 | 2404 | 0 | 1 | 0.0004160 |