| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 9-135781140-C-A | TSC1 | c.1825G>T | p.Glu609* | Nonsense | 15/23 | - |
| 14-23898249-G-A | MYH7 | c.1322C>T | p.Thr441Met | Missense | 14/40 | - |
| 15-48796040-G-T | FBN1 | c.2057C>A | p.Ala686Asp | Missense | 17/66 | - |
| 17-41215888-T-G | BRCA1 | c.5152+3A>C | - | IntronicSNV | - | 17/22 |
| 17-41223121-G-A | BRCA1 | c.4810C>T | p.Gln1604* | Nonsense | 15/23 | - |
| 3-37042512-G-C | MLH1 | c.274G>C | p.Ala92Pro | Missense | 3/19 | - |
| 9-135797222-A-G | TSC1 | c.647T>C | p.Phe216Ser | Missense | 7/23 | - |
| 7-150648731-C-A | KCNH2 | c.1750G>T | p.Gly584Cys | Missense | 7/15 | - |
| 7-150648731-C-G | KCNH2 | c.1750G>C | p.Gly584Arg | Missense | 7/15 | - |
| 7-150648731-C-T | KCNH2 | c.1750G>A | p.Gly584Ser | Missense | 7/15 | - |
| 19-38939431-G-T | RYR1 | c.1100G>T | p.Arg367Leu | Missense | 11/106 | - |
| 17-41215899-C-A | BRCA1 | c.5144G>T | p.Ser1715Ile | Missense | 17/23 | - |
| 9-135796750-C-T | TSC1 | c.737G>A | p.Arg246Lys | Missense | 8/23 | - |
| 3-37045961-T-A | MLH1 | c.376T>A | p.Tyr126Asn | Missense | 4/19 | - |
| 16-2136243-A-G | TSC2 | c.4712A>G | p.Tyr1571Cys | Missense | 37/42 | - |
| 13-32912750-G-T | BRCA2 | c.4258G>T | p.Asp1420Tyr | Missense | 11/27 | - |
| 7-6035165-C-A | PMS2 | c.903G>T | p.Lys301Asn | Missense | 8/15 | - |
| 1-45797401-G-A | MUTYH | c.1109C>T | p.Ala370Val | Missense | 12/16 | - |
| X-100653895-G-A | GLA | c.679C>T | p.Arg227* | Nonsense | 5/7 | - |
| 13-32890665-G-C | BRCA2 | c.67+1G>C | - | IntronicSNV | - | 2/26 |
| 19-38985105-G-A | RYR1 | c.6388G>A | p.Gly2130Arg | Missense | 39/106 | - |
| 7-150649738-C-T | KCNH2 | c.1332G>A | p.Glu444Glu | Synonymous | 6/15 | - |
| 7-150649738-C-A | KCNH2 | c.1332G>T | p.Glu444Asp | Missense | 6/15 | - |
| 19-38985105-G-T | RYR1 | c.6388G>T | p.Gly2130Trp | Missense | 39/106 | - |
| 3-37045890-A-C | MLH1 | c.307-2A>C | - | IntronicSNV | - | 3/18 |
| 3-37045890-A-G | MLH1 | c.307-2A>G | - | IntronicSNV | - | 3/18 |
| 19-11227666-G-T | LDLR | c.1837G>T | p.Val613Phe | Missense | 12/18 | - |
| 19-11227666-G-A | LDLR | c.1837G>A | p.Val613Ile | Missense | 12/18 | - |
| 13-32911295-G-A | BRCA2 | c.2803G>A | p.Asp935Asn | Missense | 11/27 | - |
| 3-37045903-C-A | MLH1 | c.318C>A | p.Ser106Arg | Missense | 4/19 | - |
| 3-37045903-C-T | MLH1 | c.318C>T | p.Ser106Ser | Synonymous | 4/19 | - |
| 3-37055976-G-A | MLH1 | c.731G>A | p.Gly244Asp | Missense | 9/19 | - |
| 15-48762831-C-T | FBN1 | c.4459G>A | p.Asp1487Asn | Missense | 36/66 | - |
| 3-37083784-A-T | MLH1 | c.1693A>T | p.Ile565Phe | Missense | 15/19 | - |
| 2-48030801-G-A | MSH6 | c.3415G>A | p.Gly1139Ser | Missense | 5/10 | - |
| 19-39070697-C-T | RYR1 | c.14440C>T | p.Leu4814Phe | Missense | 100/106 | - |
| 17-41245861-G-A | BRCA1 | c.1687C>T | p.Gln563* | Nonsense | 10/23 | - |
| 16-2137942-G-T | TSC2 | c.5068G>T | p.Asp1690Tyr | Missense | 39/42 | - |
| 7-150648704-T-C | KCNH2 | c.1777A>G | p.Ile593Val | Missense | 7/15 | - |
| 17-41244291-A-C | BRCA1 | c.3257T>G | p.Leu1086* | Nonsense | 10/23 | - |
| 17-41244291-A-G | BRCA1 | c.3257T>C | p.Leu1086Ser | Missense | 10/23 | - |
| 17-41215926-C-T | BRCA1 | c.5117G>A | p.Gly1706Glu | Missense | 17/23 | - |
| 17-41215926-C-G | BRCA1 | c.5117G>C | p.Gly1706Ala | Missense | 17/23 | - |
| 17-41215900-T-G | BRCA1 | c.5143A>C | p.Ser1715Arg | Missense | 17/23 | - |
| 17-41215900-T-A | BRCA1 | c.5143A>T | p.Ser1715Cys | Missense | 17/23 | - |
| 17-7579618-A-G | TP53 | c.97-28T>C | - | IntronicSNV | - | 3/10 |
| 2-48030685-C-T | MSH6 | c.3299C>T | p.Thr1100Met | Missense | 5/10 | - |
| 15-48797307-A-G | FBN1 | c.1875T>C | p.Asn625Asn | Synonymous | 16/66 | - |
| 16-2136811-A-T | TSC2 | c.4928A>T | p.Asn1643Ile | Missense | 38/42 | - |
| 16-2136811-A-G | TSC2 | c.4928A>G | p.Asn1643Ser | Missense | 38/42 | - |
| 13-32914814-C-T | BRCA2 | c.6322C>T | p.Arg2108Cys | Missense | 11/27 | - |
| 3-37067254-C-G | MLH1 | c.1165C>G | p.Arg389Gly | Missense | 12/19 | - |
| 3-37067254-C-A | MLH1 | c.1165C>A | p.Arg389Arg | Synonymous | 12/19 | - |
| 3-37067254-C-T | MLH1 | c.1165C>T | p.Arg389Trp | Missense | 12/19 | - |
| 10-43617398-G-C | RET | c.2735G>C | p.Arg912Pro | Missense | 16/20 | - |
| 10-43617398-G-T | RET | c.2735G>T | p.Arg912Leu | Missense | 16/20 | - |
| 7-150647472-T-A | KCNH2 | c.2182A>T | p.Ile728Phe | Missense | 9/15 | - |
| 2-48030822-C-T | MSH6 | c.3436C>T | p.Gln1146* | Nonsense | 5/10 | - |
| 7-150649787-G-A | KCNH2 | c.1283C>T | p.Ser428Leu | Missense | 6/15 | - |
| 17-41199701-A-G | BRCA1 | c.5426T>C | p.Val1809Ala | Missense | 22/23 | - |
| 3-38592239-A-T | SCN5A | c.5624T>A | p.Met1875Lys | Missense | 28/28 | - |
| 19-38987541-G-A | RYR1 | c.6838G>A | p.Val2280Ile | Missense | 42/106 | - |
| 7-150648719-T-C | KCNH2 | c.1762A>G | p.Asn588Asp | Missense | 7/15 | - |
| 7-150648665-A-G | KCNH2 | c.1816T>C | p.Ser606Pro | Missense | 7/15 | - |
| 17-41244291-A-T | BRCA1 | c.3257T>A | p.Leu1086* | Nonsense | 10/23 | - |
| 16-2130366-C-T | TSC2 | c.3598C>T | p.Arg1200Trp | Missense | 30/42 | - |
| 13-32954283-G-C | BRCA2 | c.9256+1G>C | - | IntronicSNV | - | 24/26 |
| 9-135786839-C-T | TSC1 | c.1029+1G>A | - | IntronicSNV | - | 10/22 |
| 7-150648872-G-A | KCNH2 | c.1609C>T | p.Arg537Trp | Missense | 7/15 | - |
| 13-32937558-T-A | BRCA2 | c.8219T>A | p.Leu2740* | Nonsense | 18/27 | - |
| 15-48797307-A-T | FBN1 | c.1875T>A | p.Asn625Lys | Missense | 16/66 | - |
| 19-39016132-G-A | RYR1 | c.10616G>A | p.Arg3539His | Missense | 71/106 | - |
| 13-32890666-T-C | BRCA2 | c.67+2T>C | - | IntronicSNV | - | 2/26 |
| 13-32890666-T-G | BRCA2 | c.67+2T>G | - | IntronicSNV | - | 2/26 |
| 16-2138565-G-C | TSC2 | c.5378G>C | p.Arg1793Pro | Missense | 42/42 | - |
| 19-38976478-C-T | RYR1 | c.5183C>T | p.Ser1728Phe | Missense | 34/106 | - |
| 15-48744800-C-G | FBN1 | c.5504G>C | p.Cys1835Ser | Missense | 45/66 | - |
| 15-48744800-C-A | FBN1 | c.5504G>T | p.Cys1835Phe | Missense | 45/66 | - |
| 13-32937526-G-T | BRCA2 | c.8187G>T | p.Lys2729Asn | Missense | 18/27 | - |
| 17-41234517-G-A | BRCA1 | c.4261C>T | p.His1421Tyr | Missense | 12/23 | - |
| 3-37042542-G-A | MLH1 | c.304G>A | p.Glu102Lys | Missense | 3/19 | - |
| 3-38592369-G-C | SCN5A | c.5494C>G | p.Gln1832Glu | Missense | 28/28 | - |
| 16-2137898-C-A | TSC2 | c.5024C>A | p.Pro1675Gln | Missense | 39/42 | - |
| 16-2137898-C-T | TSC2 | c.5024C>T | p.Pro1675Leu | Missense | 39/42 | - |
| 3-37070318-G-C | MLH1 | c.1453G>C | p.Asp485His | Missense | 13/19 | - |
| 19-38985066-G-C | RYR1 | c.6349G>C | p.Val2117Leu | Missense | 39/106 | - |
| 2-189873669-G-T | COL3A1 | c.3545G>T | p.Gly1182Val | Missense | 48/51 | - |
| 3-38592314-C-G | SCN5A | c.5549G>C | p.Cys1850Ser | Missense | 28/28 | - |
| 3-38592239-A-G | SCN5A | c.5624T>C | p.Met1875Thr | Missense | 28/28 | - |
| 3-37045965-G-C | MLH1 | c.380G>C | p.Arg127Thr | Missense | 4/19 | - |
| 3-37045965-G-T | MLH1 | c.380G>T | p.Arg127Ile | Missense | 4/19 | - |
| 3-37045965-G-A | MLH1 | c.380G>A | p.Arg127Lys | Missense | 4/19 | - |
| 16-2136193-G-C | TSC2 | c.4663-1G>C | - | IntronicSNV | - | 36/41 |
| 16-2136193-G-A | TSC2 | c.4663-1G>A | - | IntronicSNV | - | 36/41 |
| 16-2136193-G-T | TSC2 | c.4663-1G>T | - | IntronicSNV | - | 36/41 |
| 22-30070880-C-T | NF2 | c.1396C>T | p.Arg466* | Nonsense | 13/16 | - |
| 22-30070880-C-G | NF2 | c.1396C>G | p.Arg466Gly | Missense | 13/16 | - |
| 19-11227594-G-C | LDLR | c.1765G>C | p.Asp589His | Missense | 12/18 | - |
| 7-150648745-A-G | KCNH2 | c.1736T>C | p.Met579Thr | Missense | 7/15 | - |
| 19-11227594-G-T | LDLR | c.1765G>T | p.Asp589Tyr | Missense | 12/18 | - |
| 19-11227594-G-A | LDLR | c.1765G>A | p.Asp589Asn | Missense | 12/18 | - |
| 16-2136808-G-A | TSC2 | c.4925G>A | p.Gly1642Asp | Missense | 38/42 | - |
| 15-48782072-T-C | FBN1 | c.3058A>G | p.Thr1020Ala | Missense | 25/66 | - |
| 2-47707892-A-G | MSH2 | c.2516A>G | p.His839Arg | Missense | 15/16 | - |
| 14-23896480-G-A | MYH7 | c.1925C>T | p.Ser642Leu | Missense | 17/40 | - |
| 16-2129161-G-A | TSC2 | c.3095G>A | p.Arg1032Gln | Missense | 27/42 | - |
| 16-2129161-G-C | TSC2 | c.3095G>C | p.Arg1032Pro | Missense | 27/42 | - |
| 16-2130210-C-T | TSC2 | c.3442C>T | p.Gln1148* | Nonsense | 30/42 | - |
| 1-45798246-C-T | MUTYH | c.681G>A | p.Gln227Gln | Synonymous | 8/16 | - |
| 16-2110688-C-T | TSC2 | c.993C>T | p.Asn331Asn | Synonymous | 11/42 | - |
| 16-2110688-C-A | TSC2 | c.993C>A | p.Asn331Lys | Missense | 11/42 | - |
| 14-23897796-C-A | MYH7 | c.1491G>T | p.Glu497Asp | Missense | 15/40 | - |
| 3-37053354-G-T | MLH1 | c.588+1G>T | - | IntronicSNV | - | 7/18 |
| 11-2608860-C-T | KCNQ1 | c.1189C>T | p.Arg397Trp | Missense | 9/16 | - |
| 11-2608860-C-G | KCNQ1 | c.1189C>G | p.Arg397Gly | Missense | 9/16 | - |
| 19-38934851-C-T | RYR1 | c.487C>T | p.Arg163Cys | Missense | 6/106 | - |
| 19-38985195-G-T | RYR1 | c.6478G>T | p.Gly2160Cys | Missense | 39/106 | - |
| 17-41245729-T-C | BRCA1 | c.1819A>G | p.Lys607Glu | Missense | 10/23 | - |
| 13-32968825-G-A | BRCA2 | c.9257-1G>A | - | IntronicSNV | - | 24/26 |
| 19-38942483-G-A | RYR1 | c.1202G>A | p.Arg401His | Missense | 12/106 | - |
| 2-48030670-G-A | MSH6 | c.3284G>A | p.Arg1095His | Missense | 5/10 | - |
| 16-2131595-G-A | TSC2 | c.3611-1G>A | - | IntronicSNV | - | 30/41 |
| 19-38985195-G-C | RYR1 | c.6478G>C | p.Gly2160Arg | Missense | 39/106 | - |
| 19-38934252-C-T | RYR1 | c.325C>T | p.Arg109Trp | Missense | 4/106 | - |
| 1-45800167-G-A | MUTYH | c.53C>T | p.Pro18Leu | Missense | 2/16 | - |
| 3-37067237-T-C | MLH1 | c.1148T>C | p.Met383Thr | Missense | 12/19 | - |
| 5-112162891-C-G | APC | c.1495C>G | p.Arg499Gly | Missense | 12/16 | - |
| 5-112162891-C-T | APC | c.1495C>T | p.Arg499* | Nonsense | 12/16 | - |
| 16-2107122-T-C | TSC2 | c.791T>C | p.Leu264Pro | Missense | 9/42 | - |
| 15-48789495-T-C | FBN1 | c.2261A>G | p.Tyr754Cys | Missense | 19/66 | - |
| 16-2122848-A-C | TSC2 | c.2221-2A>C | - | IntronicSNV | - | 20/41 |
| 16-2122848-A-G | TSC2 | c.2221-2A>G | - | IntronicSNV | - | 20/41 |
| 19-38990337-T-G | RYR1 | c.7090T>G | p.Phe2364Val | Missense | 44/106 | - |
| 3-37055946-A-G | MLH1 | c.701A>G | p.Glu234Gly | Missense | 9/19 | - |
| 1-55523127-G-T | PCSK9 | c.1120G>T | p.Asp374Tyr | Missense | 7/12 | - |
| 3-37070324-C-T | MLH1 | c.1459C>T | p.Arg487* | Nonsense | 13/19 | - |
| 3-37083827-G-A | MLH1 | c.1731+5G>A | - | IntronicSNV | - | 15/18 |
| 3-37067327-C-T | MLH1 | c.1238C>T | p.Thr413Ile | Missense | 12/19 | - |
| 1-55523127-G-A | PCSK9 | c.1120G>A | p.Asp374Asn | Missense | 7/12 | - |
| 1-237802368-C-T | RYR2 | c.6982C>T | p.Pro2328Ser | Missense | 46/105 | - |
| X-100653894-C-T | GLA | c.680G>A | p.Arg227Gln | Missense | 5/7 | - |
| 17-41197776-C-G | BRCA1 | c.5511G>C | p.Trp1837Cys | Missense | 23/23 | - |
| 17-41197776-C-A | BRCA1 | c.5511G>T | p.Trp1837Cys | Missense | 23/23 | - |
| 16-2136377-C-T | TSC2 | c.4846C>T | p.Gln1616* | Nonsense | 37/42 | - |
| 1-45797506-T-C | MUTYH | c.1004A>G | p.Gln335Arg | Missense | 12/16 | - |
| 1-45797506-T-A | MUTYH | c.1004A>T | p.Gln335Leu | Missense | 12/16 | - |
| 3-38592282-C-T | SCN5A | c.5581G>A | p.Val1861Ile | Missense | 28/28 | - |
| 16-2110755-C-T | TSC2 | c.1060C>T | p.Gln354* | Nonsense | 11/42 | - |
| X-100653894-C-G | GLA | c.680G>C | p.Arg227Pro | Missense | 5/7 | - |
| 17-41197776-C-T | BRCA1 | c.5511G>A | p.Trp1837* | Nonsense | 23/23 | - |
| 16-2130259-C-T | TSC2 | c.3491C>T | p.Ala1164Val | Missense | 30/42 | - |
| 1-161293426-C-T | SDHC | c.43C>T | p.Arg15* | Nonsense | 2/6 | - |
| 17-41201205-A-T | BRCA1 | c.5339T>A | p.Leu1780Gln | Missense | 21/23 | - |
| 17-41201205-A-C | BRCA1 | c.5339T>G | p.Leu1780Arg | Missense | 21/23 | - |
| 17-41246494-C-A | BRCA1 | c.1054G>T | p.Glu352* | Nonsense | 10/23 | - |
| 17-41246494-C-T | BRCA1 | c.1054G>A | p.Glu352Lys | Missense | 10/23 | - |
| 15-48748888-G-A | FBN1 | c.5368C>T | p.Arg1790* | Nonsense | 44/66 | - |
| 3-37042512-G-A | MLH1 | c.274G>A | p.Ala92Thr | Missense | 3/19 | - |
| 3-37045903-C-G | MLH1 | c.318C>G | p.Ser106Arg | Missense | 4/19 | - |
| 16-2110668-C-T | TSC2 | c.976-3C>T | - | IntronicSNV | - | 10/41 |
| 15-48782087-C-T | FBN1 | c.3043G>A | p.Ala1015Thr | Missense | 25/66 | - |
| 16-2110668-C-G | TSC2 | c.976-3C>G | - | IntronicSNV | - | 10/41 |
| 16-2126534-G-A | TSC2 | c.2785G>A | p.Glu929Lys | Missense | 25/42 | - |
| 7-150649871-A-T | KCNH2 | c.1199T>A | p.Ile400Asn | Missense | 6/15 | - |
| 17-41244280-G-A | BRCA1 | c.3268C>T | p.Gln1090* | Nonsense | 10/23 | - |
| 17-41201212-C-A | BRCA1 | c.5333-1G>T | - | IntronicSNV | - | 20/22 |
| 17-41201212-C-T | BRCA1 | c.5333-1G>A | - | IntronicSNV | - | 20/22 |
| 17-41215389-C-T | BRCA1 | c.5154G>A | p.Trp1718* | Nonsense | 18/23 | - |
| 17-41215389-C-A | BRCA1 | c.5154G>T | p.Trp1718Cys | Missense | 18/23 | - |
| 13-32954180-C-T | BRCA2 | c.9154C>T | p.Arg3052Trp | Missense | 24/27 | - |
| 17-41234556-G-A | BRCA1 | c.4222C>T | p.Gln1408* | Nonsense | 12/23 | - |
| 15-48703535-C-T | FBN1 | c.8268G>A | p.Trp2756* | Nonsense | 66/66 | - |
| 1-55529215-C-A | PCSK9 | c.2037C>A | p.Cys679* | Nonsense | 12/12 | - |
| 13-32890666-T-A | BRCA2 | c.67+2T>A | - | IntronicSNV | - | 2/26 |
| 2-48026566-C-G | MSH6 | c.1444C>G | p.Arg482Gly | Missense | 4/10 | - |
| 2-48026566-C-A | MSH6 | c.1444C>A | p.Arg482Arg | Synonymous | 4/10 | - |
| 3-38592494-T-C | SCN5A | c.5369A>G | p.Asp1790Gly | Missense | 28/28 | - |
| 17-41244100-G-A | BRCA1 | c.3448C>T | p.Pro1150Ser | Missense | 10/23 | - |
| 19-38933001-G-A | RYR1 | c.178G>A | p.Asp60Asn | Missense | 3/106 | - |
| 3-37061817-C-T | MLH1 | c.901C>T | p.Gln301* | Nonsense | 11/19 | - |
| 1-55529215-C-T | PCSK9 | c.2037C>T | p.Cys679Cys | Synonymous | 12/12 | - |
| 3-37061817-C-G | MLH1 | c.901C>G | p.Gln301Glu | Missense | 11/19 | - |
| 9-135797205-C-T | TSC1 | c.663+1G>A | - | IntronicSNV | - | 7/22 |
| 17-41244429-C-G | BRCA1 | c.3119G>C | p.Ser1040Thr | Missense | 10/23 | - |
| 1-156106042-C-T | LMNA | c.1195C>T | p.Arg399Cys | Missense | 7/12 | - |
| 3-37061827-A-G | MLH1 | c.911A>G | p.Asp304Gly | Missense | 11/19 | - |
| 3-37061827-A-T | MLH1 | c.911A>T | p.Asp304Val | Missense | 11/19 | - |
| 17-41244252-G-A | BRCA1 | c.3296C>T | p.Pro1099Leu | Missense | 10/23 | - |
| 16-2136361-G-A | TSC2 | c.4830G>A | p.Trp1610* | Nonsense | 37/42 | - |
| 19-38991282-C-T | RYR1 | c.7360C>T | p.Arg2454Cys | Missense | 46/106 | - |
| 19-38990346-G-T | RYR1 | c.7099G>T | p.Ala2367Ser | Missense | 44/106 | - |
| 15-48744800-C-T | FBN1 | c.5504G>A | p.Cys1835Tyr | Missense | 45/66 | - |
| 7-150648726-C-A | KCNH2 | c.1755G>T | p.Trp585Cys | Missense | 7/15 | - |
| 7-150648726-C-G | KCNH2 | c.1755G>C | p.Trp585Cys | Missense | 7/15 | - |
| 17-41197774-A-C | BRCA1 | c.5513T>G | p.Val1838Gly | Missense | 23/23 | - |
| 17-41197774-A-T | BRCA1 | c.5513T>A | p.Val1838Glu | Missense | 23/23 | - |
| 15-48782203-C-T | FBN1 | c.2927G>A | p.Arg976His | Missense | 25/66 | - |
| 17-41244429-C-T | BRCA1 | c.3119G>A | p.Ser1040Asn | Missense | 10/23 | - |
| 7-150648767-C-G | KCNH2 | c.1714G>C | p.Gly572Arg | Missense | 7/15 | - |
| 7-150648767-C-A | KCNH2 | c.1714G>T | p.Gly572Cys | Missense | 7/15 | - |
| 17-41197274-C-A | BRCA1 | c.*421G>T | - | 3-UTRSNV | 23/23 | - |
| 3-37061827-A-C | MLH1 | c.911A>C | p.Asp304Ala | Missense | 11/19 | - |
| 17-41215898-G-T | BRCA1 | c.5145C>A | p.Ser1715Arg | Missense | 17/23 | - |
| 17-41215898-G-C | BRCA1 | c.5145C>G | p.Ser1715Arg | Missense | 17/23 | - |
| 9-135780967-C-G | TSC1 | c.1997+1G>C | - | IntronicSNV | - | 15/22 |
| 3-37091975-A-T | MLH1 | c.2104-2A>T | - | IntronicSNV | - | 18/18 |
| 3-37091975-A-G | MLH1 | c.2104-2A>G | - | IntronicSNV | - | 18/18 |
| 19-38990346-G-A | RYR1 | c.7099G>A | p.Ala2367Thr | Missense | 44/106 | - |
| 16-2122957-C-T | TSC2 | c.2328C>T | p.Tyr776Tyr | Synonymous | 21/42 | - |
| 16-2122957-C-A | TSC2 | c.2328C>A | p.Tyr776* | Nonsense | 21/42 | - |
| 16-2136216-T-C | TSC2 | c.4685T>C | p.Leu1562Pro | Missense | 37/42 | - |
| 17-41223242-G-C | BRCA1 | c.4689C>G | p.Tyr1563* | Nonsense | 15/23 | - |
| 15-48796040-G-A | FBN1 | c.2057C>T | p.Ala686Val | Missense | 17/66 | - |
| 14-23902865-G-A | MYH7 | c.77C>T | p.Ala26Val | Missense | 3/40 | - |
| 19-11231154-C-T | LDLR | c.2096C>T | p.Pro699Leu | Missense | 14/18 | - |
| 16-2122982-C-T | TSC2 | c.2353C>T | p.Gln785* | Nonsense | 21/42 | - |
| 16-2138237-C-A | TSC2 | c.5170C>A | p.Gln1724Lys | Missense | 41/42 | - |
| 16-2138237-C-T | TSC2 | c.5170C>T | p.Gln1724* | Nonsense | 41/42 | - |
| 17-41245918-G-A | BRCA1 | c.1630C>T | p.Gln544* | Nonsense | 10/23 | - |
| 19-38990637-G-T | RYR1 | c.7304G>T | p.Arg2435Leu | Missense | 45/106 | - |
| 3-37067243-G-A | MLH1 | c.1154G>A | p.Arg385His | Missense | 12/19 | - |
| 3-37042548-A-G | MLH1 | c.306+4A>G | - | IntronicSNV | - | 3/18 |
| 15-35082750-C-G | ACTC1 | c.997G>C | p.Ala333Pro | Missense | 7/7 | - |
| 7-150654548-G-A | KCNH2 | c.959C>T | p.Ser320Leu | Missense | 5/15 | - |
| 7-150654548-G-C | KCNH2 | c.959C>G | p.Ser320Trp | Missense | 5/15 | - |
| 9-135796816-A-T | TSC1 | c.671T>A | p.Met224Lys | Missense | 8/23 | - |
| 19-11231111-C-T | LDLR | c.2053C>T | p.Pro685Ser | Missense | 14/18 | - |
| 19-11231111-C-A | LDLR | c.2053C>A | p.Pro685Thr | Missense | 14/18 | - |
| 1-45796912-G-T | MUTYH | c.1409C>A | p.Ala470Asp | Missense | 14/16 | - |
| 19-39019676-G-A | RYR1 | c.11120G>A | p.Arg3707His | Missense | 76/106 | - |
| 19-39019676-G-T | RYR1 | c.11120G>T | p.Arg3707Leu | Missense | 76/106 | - |
| 7-150648617-G-A | KCNH2 | c.1864C>T | p.Leu622Phe | Missense | 7/15 | - |
| 1-55529187-G-A | PCSK9 | c.2009G>A | p.Gly670Glu | Missense | 12/12 | - |
| 16-2138570-C-T | TSC2 | c.5383C>T | p.Arg1795Cys | Missense | 42/42 | - |
| 3-37083774-C-G | MLH1 | c.1683C>G | p.Tyr561* | Nonsense | 15/19 | - |
| 16-2137930-C-G | TSC2 | c.5056C>G | p.Gln1686Glu | Missense | 39/42 | - |
| 7-150647450-G-A | KCNH2 | c.2204C>T | p.Ser735Leu | Missense | 9/15 | - |
| 16-2138287-G-A | TSC2 | c.5220G>A | p.Trp1740* | Nonsense | 41/42 | - |
| 16-2138287-G-T | TSC2 | c.5220G>T | p.Trp1740Cys | Missense | 41/42 | - |
| 9-135796816-A-C | TSC1 | c.671T>G | p.Met224Arg | Missense | 8/23 | - |
| 9-135787833-A-T | TSC1 | c.749T>A | p.Leu250* | Nonsense | 9/23 | - |
| 7-150648730-C-A | KCNH2 | c.1751G>T | p.Gly584Val | Missense | 7/15 | - |
| 2-189873669-G-A | COL3A1 | c.3545G>A | p.Gly1182Glu | Missense | 48/51 | - |
| 11-2869129-G-T | KCNQ1 | c.1927G>T | p.Gly643Cys | Missense | 16/16 | - |
| 16-2137930-C-T | TSC2 | c.5056C>T | p.Gln1686* | Nonsense | 39/42 | - |
| 10-89692886-T-G | PTEN | c.370T>G | p.Cys124Gly | Missense | 5/9 | - |
| 2-48026798-G-A | MSH6 | c.1676G>A | p.Cys559Tyr | Missense | 4/10 | - |
| 7-150649662-T-C | KCNH2 | c.1408A>G | p.Asn470Asp | Missense | 6/15 | - |
| 2-47707909-A-C | MSH2 | c.2533A>C | p.Lys845Gln | Missense | 15/16 | - |
| 2-47707909-A-G | MSH2 | c.2533A>G | p.Lys845Glu | Missense | 15/16 | - |
| 17-41234592-G-A | BRCA1 | c.4186C>T | p.Gln1396* | Nonsense | 12/23 | - |
| 17-41234592-G-T | BRCA1 | c.4186C>A | p.Gln1396Lys | Missense | 12/23 | - |
| 19-39071022-G-A | RYR1 | c.14524G>A | p.Val4842Met | Missense | 101/106 | - |
| 17-41244435-T-C | BRCA1 | c.3113A>G | p.Glu1038Gly | Missense | 10/23 | - |
| 19-11231101-C-G | LDLR | c.2043C>G | p.Cys681Trp | Missense | 14/18 | - |
| 2-48028049-G-A | MSH6 | c.2927G>A | p.Arg976His | Missense | 4/10 | - |
| 16-2107113-G-T | TSC2 | c.782G>T | p.Arg261Leu | Missense | 9/42 | - |
| 2-21225753-C-T | APOB | c.12541G>A | p.Glu4181Lys | Missense | 29/29 | - |
| 1-45797157-G-T | MUTYH | c.1249C>A | p.Leu417Met | Missense | 13/16 | - |
| 3-37061865-C-A | MLH1 | c.949C>A | p.Leu317Met | Missense | 11/19 | - |
| 7-6031643-G-T | PMS2 | c.949C>A | p.Gln317Lys | Missense | 9/15 | - |
| 7-6031643-G-A | PMS2 | c.949C>T | p.Gln317* | Nonsense | 9/15 | - |
| 3-37061893-T-A | MLH1 | c.977T>A | p.Val326Glu | Missense | 11/19 | - |
| 17-41215920-G-C | BRCA1 | c.5123C>G | p.Ala1708Gly | Missense | 17/23 | - |
| 17-41215920-G-A | BRCA1 | c.5123C>T | p.Ala1708Val | Missense | 17/23 | - |
| 16-2107113-G-C | TSC2 | c.782G>C | p.Arg261Pro | Missense | 9/42 | - |
| 16-2107113-G-A | TSC2 | c.782G>A | p.Arg261Gln | Missense | 9/42 | - |
| 3-37061893-T-C | MLH1 | c.977T>C | p.Val326Ala | Missense | 11/19 | - |
| 17-41215920-G-T | BRCA1 | c.5123C>A | p.Ala1708Glu | Missense | 17/23 | - |
| 19-11231101-C-A | LDLR | c.2043C>A | p.Cys681* | Nonsense | 14/18 | - |
| 3-38592174-G-A | SCN5A | c.5689C>T | p.Arg1897Trp | Missense | 28/28 | - |
| 13-32914283-C-T | BRCA2 | c.5791C>T | p.Gln1931* | Nonsense | 11/27 | - |
| 16-2110696-T-G | TSC2 | c.1001T>G | p.Val334Gly | Missense | 11/42 | - |
| 19-38989863-G-A | RYR1 | c.7007G>A | p.Arg2336His | Missense | 43/106 | - |
| 19-11231100-G-A | LDLR | c.2042G>A | p.Cys681Tyr | Missense | 14/18 | - |
| 16-2110696-T-C | TSC2 | c.1001T>C | p.Val334Ala | Missense | 11/42 | - |
| 11-2869129-G-A | KCNQ1 | c.1927G>A | p.Gly643Ser | Missense | 16/16 | - |
| 9-135787833-A-C | TSC1 | c.749T>G | p.Leu250* | Nonsense | 9/23 | - |
| 7-150654540-C-T | KCNH2 | c.967G>A | p.Asp323Asn | Missense | 5/15 | - |
| 17-41245861-G-C | BRCA1 | c.1687C>G | p.Gln563Glu | Missense | 10/23 | - |
| 17-41199702-C-A | BRCA1 | c.5425G>T | p.Val1809Phe | Missense | 22/23 | - |
| 1-45797228-C-T | MUTYH | c.1178G>A | p.Gly393Asp | Missense | 13/16 | - |
| 3-37067348-C-G | MLH1 | c.1259C>G | p.Ser420Cys | Missense | 12/19 | - |
| 3-37067348-C-T | MLH1 | c.1259C>T | p.Ser420Phe | Missense | 12/19 | - |
| 16-2129172-T-G | TSC2 | c.3106T>G | p.Ser1036Ala | Missense | 27/42 | - |
| 1-237811823-G-A | RYR2 | c.7422G>A | p.Arg2474Arg | Synonymous | 49/105 | - |
| 19-38990637-G-A | RYR1 | c.7304G>A | p.Arg2435His | Missense | 45/106 | - |
| 1-237811823-G-C | RYR2 | c.7422G>C | p.Arg2474Ser | Missense | 49/105 | - |
| 17-41203135-C-T | BRCA1 | c.5278-1G>A | - | IntronicSNV | - | 19/22 |
| 16-2136739-T-C | TSC2 | c.4856T>C | p.Phe1619Ser | Missense | 38/42 | - |
| 11-2591940-T-C | KCNQ1 | c.560T>C | p.Leu187Pro | Missense | 3/16 | - |
| 17-41203135-C-G | BRCA1 | c.5278-1G>C | - | IntronicSNV | - | 19/22 |
| 13-32937521-G-A | BRCA2 | c.8182G>A | p.Val2728Ile | Missense | 18/27 | - |
| 13-32937521-G-C | BRCA2 | c.8182G>C | p.Val2728Leu | Missense | 18/27 | - |
| 16-2131647-C-T | TSC2 | c.3662C>T | p.Ser1221Leu | Missense | 31/42 | - |
| 3-38592386-C-T | SCN5A | c.5477G>A | p.Arg1826His | Missense | 28/28 | - |
| 13-32914815-G-A | BRCA2 | c.6323G>A | p.Arg2108His | Missense | 11/27 | - |
| 2-21230565-G-T | APOB | c.9175C>A | p.Arg3059Ser | Missense | 26/29 | - |
| 2-21230565-G-A | APOB | c.9175C>T | p.Arg3059Cys | Missense | 26/29 | - |
| 7-150648766-C-A | KCNH2 | c.1715G>T | p.Gly572Val | Missense | 7/15 | - |
| 3-37090101-G-C | MLH1 | c.1989+1G>C | - | IntronicSNV | - | 17/18 |
| 3-37090101-G-A | MLH1 | c.1989+1G>A | - | IntronicSNV | - | 17/18 |
| 3-37090101-G-T | MLH1 | c.1989+1G>T | - | IntronicSNV | - | 17/18 |
| 1-55505520-G-T | PCSK9 | c.10G>T | p.Val4Phe | Missense | 1/12 | - |
| 7-150671808-G-T | KCNH2 | c.298C>A | p.Arg100Arg | Synonymous | 2/15 | - |
| 16-2126496-T-C | TSC2 | c.2747T>C | p.Leu916Pro | Missense | 25/42 | - |
| 7-150649569-C-T | KCNH2 | c.1501G>A | p.Asp501Asn | Missense | 6/15 | - |
| 2-48027482-C-G | MSH6 | c.2360C>G | p.Ala787Gly | Missense | 4/10 | - |
| 13-32914815-G-T | BRCA2 | c.6323G>T | p.Arg2108Leu | Missense | 11/27 | - |
| 7-150648770-T-C | KCNH2 | c.1711A>G | p.Ile571Val | Missense | 7/15 | - |
| 7-150648770-T-G | KCNH2 | c.1711A>C | p.Ile571Leu | Missense | 7/15 | - |
| 16-2110670-G-T | TSC2 | c.976-1G>T | - | IntronicSNV | - | 10/41 |
| 16-2110670-G-A | TSC2 | c.976-1G>A | - | IntronicSNV | - | 10/41 |
| 17-41234580-T-C | BRCA1 | c.4198A>G | p.Met1400Val | Missense | 12/23 | - |
| 1-55505520-G-A | PCSK9 | c.10G>A | p.Val4Ile | Missense | 1/12 | - |
| 7-150671808-G-A | KCNH2 | c.298C>T | p.Arg100Trp | Missense | 2/15 | - |
| 7-150671808-G-C | KCNH2 | c.298C>G | p.Arg100Gly | Missense | 2/15 | - |
| 16-2126496-T-G | TSC2 | c.2747T>G | p.Leu916Arg | Missense | 25/42 | - |
| 7-150649569-C-G | KCNH2 | c.1501G>C | p.Asp501His | Missense | 6/15 | - |
| 2-21225597-A-T | APOB | c.12697T>A | p.Ser4233Thr | Missense | 29/29 | - |
| 7-150644816-C-T | KCNH2 | c.2843G>A | p.Arg948His | Missense | 12/15 | - |
| 17-41203135-C-A | BRCA1 | c.5278-1G>T | - | IntronicSNV | - | 19/22 |
| 3-38592480-A-G | SCN5A | c.5383T>C | p.Tyr1795His | Missense | 28/28 | - |
| 7-150654567-C-T | KCNH2 | c.940G>A | p.Gly314Ser | Missense | 5/15 | - |
| 15-35083416-C-A | ACTC1 | c.889G>T | p.Ala297Ser | Missense | 6/7 | - |
| 7-150649811-T-C | KCNH2 | c.1259A>G | p.Tyr420Cys | Missense | 6/15 | - |
| 14-23900677-C-T | MYH7 | c.746G>A | p.Arg249Gln | Missense | 9/40 | - |
| 15-48737664-G-T | FBN1 | c.5826C>A | p.Cys1942* | Nonsense | 48/66 | - |
| 16-2122880-C-T | TSC2 | c.2251C>T | p.Arg751* | Nonsense | 21/42 | - |
| 10-89692886-T-C | PTEN | c.370T>C | p.Cys124Arg | Missense | 5/9 | - |
| X-100655687-A-C | GLA | c.606T>G | p.Cys202Trp | Missense | 4/7 | - |
| 17-41234602-C-T | BRCA1 | c.4186-10G>A | - | IntronicSNV | - | 11/22 |
| 19-39018417-T-C | RYR1 | c.10817T>C | p.Leu3606Pro | Missense | 73/106 | - |
| 14-23891501-G-A | MYH7 | c.3133C>T | p.Arg1045Cys | Missense | 25/40 | - |
| 3-37092043-T-A | MLH1 | c.2170T>A | p.Leu724Met | Missense | 19/19 | - |
| 19-38985104-C-T | RYR1 | c.6387C>T | p.Asp2129Asp | Synonymous | 39/106 | - |
| 3-37053562-C-A | MLH1 | c.649C>A | p.Arg217Ser | Missense | 8/19 | - |
| 13-32912679-A-G | BRCA2 | c.4187A>G | p.Gln1396Arg | Missense | 11/27 | - |
| 7-150649568-T-C | KCNH2 | c.1502A>G | p.Asp501Gly | Missense | 6/15 | - |
| 7-150654540-C-G | KCNH2 | c.967G>C | p.Asp323His | Missense | 5/15 | - |
| 15-48780418-A-T | FBN1 | c.3229T>A | p.Ser1077Thr | Missense | 27/66 | - |
| 19-38985104-C-G | RYR1 | c.6387C>G | p.Asp2129Glu | Missense | 39/106 | - |
| 7-6017340-T-C | PMS2 | c.2324A>G | p.Asn775Ser | Missense | 14/15 | - |
| 19-38991283-G-A | RYR1 | c.7361G>A | p.Arg2454His | Missense | 46/106 | - |
| 9-135787757-A-C | TSC1 | c.825T>G | p.Tyr275* | Nonsense | 9/23 | - |
| 22-30077432-G-T | NF2 | c.1579G>T | p.Glu527* | Nonsense | 15/16 | - |
| 16-2115598-G-A | TSC2 | c.1678G>A | p.Val560Met | Missense | 16/42 | - |
| 7-150671985-C-A | KCNH2 | c.121G>T | p.Val41Phe | Missense | 2/15 | - |
| 9-135786933-G-T | TSC1 | c.936C>A | p.Tyr312* | Nonsense | 10/23 | - |
| 19-38987541-G-T | RYR1 | c.6838G>T | p.Val2280Phe | Missense | 42/106 | - |
| 10-89712021-G-A | PTEN | c.634+5G>A | - | IntronicSNV | - | 6/8 |
| 13-32907447-C-G | BRCA2 | c.1832C>G | p.Ser611* | Nonsense | 10/27 | - |
| 13-32907447-C-A | BRCA2 | c.1832C>A | p.Ser611* | Nonsense | 10/27 | - |
| 3-37059093-A-G | MLH1 | c.884+3A>G | - | IntronicSNV | - | 10/18 |
| 17-41243051-T-G | BRCA1 | c.4097-2A>C | - | IntronicSNV | - | 10/22 |
| 7-150671984-A-C | KCNH2 | c.122T>G | p.Val41Gly | Missense | 2/15 | - |
| 7-150671984-A-G | KCNH2 | c.122T>C | p.Val41Ala | Missense | 2/15 | - |
| 7-150644886-C-T | KCNH2 | c.2773G>A | p.Gly925Arg | Missense | 12/15 | - |
| 17-41243051-T-C | BRCA1 | c.4097-2A>G | - | IntronicSNV | - | 10/22 |
| 1-45798475-T-C | MUTYH | c.527A>G | p.Tyr176Cys | Missense | 7/16 | - |
| 3-37070339-G-A | MLH1 | c.1474G>A | p.Ala492Thr | Missense | 13/19 | - |
| 2-48030741-G-A | MSH6 | c.3355G>A | p.Glu1119Lys | Missense | 5/10 | - |
| 16-2129410-C-T | TSC2 | c.3265C>T | p.Gln1089* | Nonsense | 28/42 | - |
| 7-150648700-C-T | KCNH2 | c.1781G>A | p.Gly594Asp | Missense | 7/15 | - |
| 19-39002961-G-A | RYR1 | c.9310G>A | p.Glu3104Lys | Missense | 63/106 | - |
| 17-41199698-A-C | BRCA1 | c.5429T>G | p.Val1810Gly | Missense | 22/23 | - |
| 3-37042547-A-G | MLH1 | c.306+3A>G | - | IntronicSNV | - | 3/18 |
| 3-37042547-A-C | MLH1 | c.306+3A>C | - | IntronicSNV | - | 3/18 |
| 13-32914472-C-T | BRCA2 | c.5980C>T | p.Gln1994* | Nonsense | 11/27 | - |
| 3-37091955-T-G | MLH1 | c.2104-22T>G | - | IntronicSNV | - | 18/18 |
| 3-37091955-T-C | MLH1 | c.2104-22T>C | - | IntronicSNV | - | 18/18 |
| 3-37083767-T-G | MLH1 | c.1676T>G | p.Leu559Arg | Missense | 15/19 | - |
| 3-37083767-T-A | MLH1 | c.1676T>A | p.Leu559Gln | Missense | 15/19 | - |
| 13-32937526-G-A | BRCA2 | c.8187G>A | p.Lys2729Lys | Synonymous | 18/27 | - |
| 3-37053351-A-T | MLH1 | c.586A>T | p.Lys196* | Nonsense | 7/19 | - |
| 3-37045966-G-T | MLH1 | c.380+1G>T | - | IntronicSNV | - | 4/18 |
| 17-41245729-T-A | BRCA1 | c.1819A>T | p.Lys607* | Nonsense | 10/23 | - |
| 3-37045966-G-A | MLH1 | c.380+1G>A | - | IntronicSNV | - | 4/18 |
| 1-45798269-T-C | MUTYH | c.658A>G | p.Ile220Val | Missense | 8/16 | - |
| 17-41209124-A-C | BRCA1 | c.5222T>G | p.Val1741Gly | Missense | 19/23 | - |
| 17-41199683-C-T | BRCA1 | c.5444G>A | p.Trp1815* | Nonsense | 22/23 | - |
| 19-11231112-C-T | LDLR | c.2054C>T | p.Pro685Leu | Missense | 14/18 | - |
| 19-11231112-C-A | LDLR | c.2054C>A | p.Pro685Gln | Missense | 14/18 | - |
| 1-237540715-G-A | RYR2 | c.556G>A | p.Val186Met | Missense | 8/105 | - |
| 17-41199683-C-G | BRCA1 | c.5444G>C | p.Trp1815Ser | Missense | 22/23 | - |
| 19-38985205-G-A | RYR1 | c.6488G>A | p.Arg2163His | Missense | 39/106 | - |
| 19-38985205-G-T | RYR1 | c.6488G>T | p.Arg2163Leu | Missense | 39/106 | - |
| 17-41215370-C-A | BRCA1 | c.5173G>T | p.Glu1725* | Nonsense | 18/23 | - |
| 7-150644888-C-T | KCNH2 | c.2771G>A | p.Gly924Glu | Missense | 12/15 | - |
| 11-111959726-A-T | SDHD | c.305A>T | p.His102Leu | Missense | 3/4 | - |
| 3-37083775-C-T | MLH1 | c.1684C>T | p.Gln562* | Nonsense | 15/19 | - |
| 15-48805749-G-A | FBN1 | c.1585C>T | p.Arg529* | Nonsense | 13/66 | - |
| 3-37053562-C-T | MLH1 | c.649C>T | p.Arg217Cys | Missense | 8/19 | - |
| 3-37042503-G-T | MLH1 | c.265G>T | p.Glu89* | Nonsense | 3/19 | - |
| 19-38934843-A-C | RYR1 | c.479A>C | p.Glu160Ala | Missense | 6/106 | - |
| 19-38934843-A-G | RYR1 | c.479A>G | p.Glu160Gly | Missense | 6/106 | - |
| 16-2129146-T-C | TSC2 | c.3080T>C | p.Leu1027Pro | Missense | 27/42 | - |
| 17-41246490-C-T | BRCA1 | c.1058G>A | p.Trp353* | Nonsense | 10/23 | - |
| 13-32968994-A-G | BRCA2 | c.9425A>G | p.Asp3142Gly | Missense | 25/27 | - |
| 17-41219694-C-T | BRCA1 | c.5005G>A | p.Ala1669Thr | Missense | 16/23 | - |
| 3-37053568-A-T | MLH1 | c.655A>T | p.Ile219Phe | Missense | 8/19 | - |
| 3-37053568-A-C | MLH1 | c.655A>C | p.Ile219Leu | Missense | 8/19 | - |
| 3-37053568-A-G | MLH1 | c.655A>G | p.Ile219Val | Missense | 8/19 | - |
| 7-150649653-T-G | KCNH2 | c.1417A>C | p.Thr473Pro | Missense | 6/15 | - |
| 16-2110677-G-C | TSC2 | c.982G>C | p.Ala328Pro | Missense | 11/42 | - |
| 15-48782093-C-G | FBN1 | c.3037G>C | p.Gly1013Arg | Missense | 25/66 | - |
| 15-48782093-C-T | FBN1 | c.3037G>A | p.Gly1013Arg | Missense | 25/66 | - |
| 7-150644888-C-G | KCNH2 | c.2771G>C | p.Gly924Ala | Missense | 12/15 | - |
| 7-150644888-C-A | KCNH2 | c.2771G>T | p.Gly924Val | Missense | 12/15 | - |
| 3-37061805-G-T | MLH1 | c.889G>T | p.Glu297* | Nonsense | 11/19 | - |
| 19-38990332-A-G | RYR1 | c.7085A>G | p.Glu2362Gly | Missense | 44/106 | - |
| 6-7576619-G-A | DSP | c.2723G>A | p.Arg908His | Missense | 19/24 | - |
| 6-7576619-G-T | DSP | c.2723G>T | p.Arg908Leu | Missense | 19/24 | - |
| 2-48027937-C-T | MSH6 | c.2815C>T | p.Gln939* | Nonsense | 4/10 | - |
| 7-150656686-C-G | KCNH2 | c.446G>C | p.Gly149Ala | Missense | 3/15 | - |
| 7-150656686-C-A | KCNH2 | c.446G>T | p.Gly149Val | Missense | 3/15 | - |
| 19-38985195-G-A | RYR1 | c.6478G>A | p.Gly2160Ser | Missense | 39/106 | - |
| 15-48780427-A-G | FBN1 | c.3220T>C | p.Cys1074Arg | Missense | 27/66 | - |
| 16-2130277-C-G | TSC2 | c.3509C>G | p.Ser1170* | Nonsense | 30/42 | - |
| 16-2130277-C-T | TSC2 | c.3509C>T | p.Ser1170Leu | Missense | 30/42 | - |
| 3-37061805-G-A | MLH1 | c.889G>A | p.Glu297Lys | Missense | 11/19 | - |
| 17-41245900-T-G | BRCA1 | c.1648A>C | p.Asn550His | Missense | 10/23 | - |
| 16-2133818-G-T | TSC2 | c.4005+1G>T | - | IntronicSNV | - | 33/41 |
| 17-41246482-G-A | BRCA1 | c.1066C>T | p.Gln356* | Nonsense | 10/23 | - |
| 17-41223249-G-T | BRCA1 | c.4682C>A | p.Thr1561Asn | Missense | 15/23 | - |
| 16-2138106-C-T | TSC2 | c.5126C>T | p.Pro1709Leu | Missense | 40/42 | - |
| 17-41223249-G-A | BRCA1 | c.4682C>T | p.Thr1561Ile | Missense | 15/23 | - |
| 17-41219652-C-A | BRCA1 | c.5047G>T | p.Glu1683* | Nonsense | 16/23 | - |
| 16-2134260-C-T | TSC2 | c.4037C>T | p.Ser1346Leu | Missense | 34/42 | - |
| 1-45797157-G-C | MUTYH | c.1249C>G | p.Leu417Val | Missense | 13/16 | - |
| 3-37061865-C-T | MLH1 | c.949C>T | p.Leu317Leu | Synonymous | 11/19 | - |
| 2-47707912-C-T | MSH2 | c.2536C>T | p.Gln846* | Nonsense | 15/16 | - |
| X-100653930-T-C | GLA | c.644A>G | p.Asn215Ser | Missense | 5/7 | - |
| 16-2136203-G-A | TSC2 | c.4672G>A | p.Glu1558Lys | Missense | 37/42 | - |
| 16-2136314-G-A | TSC2 | c.4783G>A | p.Gly1595Arg | Missense | 37/42 | - |
| 16-2138505-A-G | TSC2 | c.5318A>G | p.His1773Arg | Missense | 42/42 | - |
| 16-2138505-A-C | TSC2 | c.5318A>C | p.His1773Pro | Missense | 42/42 | - |
| 16-2134260-C-A | TSC2 | c.4037C>A | p.Ser1346* | Nonsense | 34/42 | - |
| 3-37070318-G-T | MLH1 | c.1453G>T | p.Asp485Tyr | Missense | 13/19 | - |
| 16-2130190-C-T | TSC2 | c.3422C>T | p.Ala1141Val | Missense | 30/42 | - |
| 6-7577213-G-A | DSP | c.2815G>A | p.Gly939Ser | Missense | 20/24 | - |
| 13-32893219-G-T | BRCA2 | c.73G>T | p.Gly25* | Nonsense | 3/27 | - |
| 16-2122854-C-T | TSC2 | c.2225C>T | p.Ser742Leu | Missense | 21/42 | - |
| 13-32893219-G-A | BRCA2 | c.73G>A | p.Gly25Arg | Missense | 3/27 | - |
| 16-2126573-G-T | TSC2 | c.2824G>T | p.Glu942* | Nonsense | 25/42 | - |
| 15-48779352-C-T | FBN1 | c.3509G>A | p.Arg1170His | Missense | 29/66 | - |
| 16-2130244-G-A | TSC2 | c.3476G>A | p.Arg1159Gln | Missense | 30/42 | - |
| 19-39070706-A-G | RYR1 | c.14449A>G | p.Ile4817Val | Missense | 100/106 | - |
| 13-32968994-A-T | BRCA2 | c.9425A>T | p.Asp3142Val | Missense | 25/27 | - |
| 16-2122935-T-A | TSC2 | c.2306T>A | p.Val769Glu | Missense | 21/42 | - |
| 16-2126573-G-C | TSC2 | c.2824G>C | p.Glu942Gln | Missense | 25/42 | - |
| 1-156106909-G-A | LMNA | c.1494G>A | p.Trp498* | Nonsense | 9/12 | - |
| 1-156106909-G-T | LMNA | c.1494G>T | p.Trp498Cys | Missense | 9/12 | - |
| 1-45796899-C-G | MUTYH | c.1422G>C | p.Thr474Thr | Synonymous | 14/16 | - |
| 16-2126534-G-T | TSC2 | c.2785G>T | p.Glu929* | Nonsense | 25/42 | - |
| 17-41215890-C-T | BRCA1 | c.5152+1G>A | - | IntronicSNV | - | 17/22 |
| 17-41215890-C-A | BRCA1 | c.5152+1G>T | - | IntronicSNV | - | 17/22 |
| 17-41215890-C-G | BRCA1 | c.5152+1G>C | - | IntronicSNV | - | 17/22 |
| 10-43617398-G-A | RET | c.2735G>A | p.Arg912Gln | Missense | 16/20 | - |
| 16-2130244-G-T | TSC2 | c.3476G>T | p.Arg1159Leu | Missense | 30/42 | - |
| 19-38987550-A-C | RYR1 | c.6847A>C | p.Asn2283His | Missense | 42/106 | - |
| 16-2130379-G-C | TSC2 | c.3610+1G>C | - | IntronicSNV | - | 30/41 |
| 9-101904965-T-G | TGFBR1 | c.722T>G | p.Met241Arg | Missense | 4/8 | - |
| 19-38933035-C-A | RYR1 | c.212C>A | p.Ser71Tyr | Missense | 3/106 | - |
| 3-38592356-A-G | SCN5A | c.5507T>C | p.Ile1836Thr | Missense | 28/28 | - |
| 13-32914461-A-C | BRCA2 | c.5969A>C | p.Asp1990Ala | Missense | 11/27 | - |
| 7-150649649-G-A | KCNH2 | c.1421C>T | p.Thr474Ile | Missense | 6/15 | - |
| 7-150654573-G-A | KCNH2 | c.934C>T | p.Arg312Cys | Missense | 5/15 | - |
| 15-48741009-C-T | FBN1 | c.5627G>A | p.Cys1876Tyr | Missense | 46/66 | - |
| 16-2134513-G-A | TSC2 | c.4290G>A | p.Trp1430* | Nonsense | 34/42 | - |
| 3-37083767-T-C | MLH1 | c.1676T>C | p.Leu559Pro | Missense | 15/19 | - |
| 3-37092046-C-G | MLH1 | c.2173C>G | p.Arg725Gly | Missense | 19/19 | - |
| 16-2110729-T-G | TSC2 | c.1034T>G | p.Leu345Arg | Missense | 11/42 | - |
| 7-150648898-C-G | KCNH2 | c.1583G>C | p.Arg528Pro | Missense | 7/15 | - |
| 17-41223115-T-C | BRCA1 | c.4816A>G | p.Lys1606Glu | Missense | 15/23 | - |
| 19-38948186-G-A | RYR1 | c.1841G>A | p.Arg614His | Missense | 17/106 | - |
| 13-32937506-G-A | BRCA2 | c.8167G>A | p.Asp2723Asn | Missense | 18/27 | - |
| 16-2130198-G-T | TSC2 | c.3430G>T | p.Val1144Leu | Missense | 30/42 | - |
| 7-150644817-G-A | KCNH2 | c.2842C>T | p.Arg948Cys | Missense | 12/15 | - |
| 7-150648703-A-T | KCNH2 | c.1778T>A | p.Ile593Lys | Missense | 7/15 | - |
| 7-150648898-C-T | KCNH2 | c.1583G>A | p.Arg528Gln | Missense | 7/15 | - |
| 19-38948186-G-T | RYR1 | c.1841G>T | p.Arg614Leu | Missense | 17/106 | - |
| 2-48027671-A-G | MSH6 | c.2549A>G | p.Tyr850Cys | Missense | 4/10 | - |
| 2-48027625-C-G | MSH6 | c.2503C>G | p.Gln835Glu | Missense | 4/10 | - |
| 7-150671868-C-G | KCNH2 | c.238G>C | p.Ala80Pro | Missense | 2/15 | - |
| 17-41245239-G-T | BRCA1 | c.2309C>A | p.Ser770* | Nonsense | 10/23 | - |
| 17-41245239-G-C | BRCA1 | c.2309C>G | p.Ser770* | Nonsense | 10/23 | - |
| 17-41245239-G-A | BRCA1 | c.2309C>T | p.Ser770Leu | Missense | 10/23 | - |
| 19-38991280-T-C | RYR1 | c.7358T>C | p.Ile2453Thr | Missense | 46/106 | - |
| 15-48760724-A-T | FBN1 | c.4467T>A | p.Asn1489Lys | Missense | 37/66 | - |
| 7-150649646-T-C | KCNH2 | c.1424A>G | p.Tyr475Cys | Missense | 6/15 | - |
| 7-150648881-G-A | KCNH2 | c.1600C>T | p.Arg534Cys | Missense | 7/15 | - |
| 19-39002893-T-C | RYR1 | c.9242T>C | p.Met3081Thr | Missense | 63/106 | - |
| 15-48733923-C-A | FBN1 | c.6158G>T | p.Cys2053Phe | Missense | 50/66 | - |
| 15-48733923-C-T | FBN1 | c.6158G>A | p.Cys2053Tyr | Missense | 50/66 | - |
| 13-32907401-G-A | BRCA2 | c.1786G>A | p.Asp596Asn | Missense | 10/27 | - |
| 13-32907401-G-C | BRCA2 | c.1786G>C | p.Asp596His | Missense | 10/27 | - |
| 7-150648881-G-T | KCNH2 | c.1600C>A | p.Arg534Ser | Missense | 7/15 | - |
| 14-23898247-G-A | MYH7 | c.1324C>T | p.Arg442Cys | Missense | 14/40 | - |
| 17-41242963-G-A | BRCA1 | c.4183C>T | p.Gln1395* | Nonsense | 11/23 | - |
| 17-41215899-C-T | BRCA1 | c.5144G>A | p.Ser1715Asn | Missense | 17/23 | - |
| 7-6035165-C-T | PMS2 | c.903G>A | p.Lys301Lys | Synonymous | 8/15 | - |
| 7-150648889-C-T | KCNH2 | c.1592G>A | p.Arg531Gln | Missense | 7/15 | - |
| 13-32954283-G-A | BRCA2 | c.9256+1G>A | - | IntronicSNV | - | 24/26 |
| 3-37090471-A-G | MLH1 | c.2066A>G | p.Gln689Arg | Missense | 18/19 | - |
| 16-2136812-C-T | TSC2 | c.4929C>T | p.Asn1643Asn | Synonymous | 38/42 | - |
| 16-2138144-A-G | TSC2 | c.5160+4A>G | - | IntronicSNV | - | 40/41 |
| 16-2130210-C-A | TSC2 | c.3442C>A | p.Gln1148Lys | Missense | 30/42 | - |
| 3-37089041-T-C | MLH1 | c.1763T>C | p.Leu588Pro | Missense | 16/19 | - |
| 2-48030685-C-G | MSH6 | c.3299C>G | p.Thr1100Arg | Missense | 5/10 | - |
| 1-55525313-A-G | PCSK9 | c.1658A>G | p.His553Arg | Missense | 10/12 | - |
| 2-48026566-C-T | MSH6 | c.1444C>T | p.Arg482* | Nonsense | 4/10 | - |
| 16-2136812-C-G | TSC2 | c.4929C>G | p.Asn1643Lys | Missense | 38/42 | - |
| 11-64575158-G-A | MEN1 | c.670-6C>T | - | IntronicSNV | - | 3/9 |
| 9-135776226-T-C | TSC1 | c.2503-2A>G | - | IntronicSNV | - | 19/22 |
| 11-64575158-G-C | MEN1 | c.670-6C>G | - | IntronicSNV | - | 3/9 |
| 11-64575158-G-T | MEN1 | c.670-6C>A | - | IntronicSNV | - | 3/9 |
| 7-150671820-T-C | KCNH2 | c.286A>G | p.Ile96Val | Missense | 2/15 | - |
| 13-32968825-G-C | BRCA2 | c.9257-1G>C | - | IntronicSNV | - | 24/26 |
| X-100653908-G-T | GLA | c.666C>A | p.Tyr222* | Nonsense | 5/7 | - |
| 3-37090392-C-G | MLH1 | c.1990-3C>G | - | IntronicSNV | - | 17/18 |
| 3-38592282-C-A | SCN5A | c.5581G>T | p.Val1861Phe | Missense | 28/28 | - |
| 3-37090392-C-T | MLH1 | c.1990-3C>T | - | IntronicSNV | - | 17/18 |
| 7-150648640-G-A | KCNH2 | c.1841C>T | p.Ala614Val | Missense | 7/15 | - |
| 16-2110777-T-C | TSC2 | c.1082T>C | p.Leu361Pro | Missense | 11/42 | - |
| 7-150648766-C-G | KCNH2 | c.1715G>C | p.Gly572Ala | Missense | 7/15 | - |
| 7-150648766-C-T | KCNH2 | c.1715G>A | p.Gly572Asp | Missense | 7/15 | - |
| 17-41245285-C-A | BRCA1 | c.2263G>T | p.Glu755* | Nonsense | 10/23 | - |
| 17-41245285-C-T | BRCA1 | c.2263G>A | p.Glu755Lys | Missense | 10/23 | - |
| 14-23897792-C-T | MYH7 | c.1495G>A | p.Glu499Lys | Missense | 15/40 | - |
| 11-64575424-C-T | MEN1 | c.608G>A | p.Trp203* | Nonsense | 3/10 | - |
| 19-39075677-G-C | RYR1 | c.14741G>C | p.Arg4914Thr | Missense | 102/106 | - |
| 16-2129165-C-G | TSC2 | c.3099C>G | p.Tyr1033* | Nonsense | 27/42 | - |
| 16-2129165-C-A | TSC2 | c.3099C>A | p.Tyr1033* | Nonsense | 27/42 | - |
| 16-2129165-C-T | TSC2 | c.3099C>T | p.Tyr1033Tyr | Synonymous | 27/42 | - |
| 9-135787837-T-A | TSC1 | c.745A>T | p.Arg249* | Nonsense | 9/23 | - |
| 17-41244436-C-A | BRCA1 | c.3112G>T | p.Glu1038* | Nonsense | 10/23 | - |
| 16-2136741-C-T | TSC2 | c.4858C>T | p.His1620Tyr | Missense | 38/42 | - |
| 9-135802693-T-C | TSC1 | c.107-2A>G | - | IntronicSNV | - | 3/22 |
| 16-2136732-G-A | TSC2 | c.4850-1G>A | - | IntronicSNV | - | 37/41 |
| 3-37042539-G-A | MLH1 | c.301G>A | p.Gly101Ser | Missense | 3/19 | - |
| 3-37042539-G-C | MLH1 | c.301G>C | p.Gly101Arg | Missense | 3/19 | - |
| 1-156105074-T-C | LMNA | c.907T>C | p.Ser303Pro | Missense | 5/12 | - |
| 3-37092043-T-C | MLH1 | c.2170T>C | p.Leu724Leu | Synonymous | 19/19 | - |
| 3-37090446-G-A | MLH1 | c.2041G>A | p.Ala681Thr | Missense | 18/19 | - |
| 3-37090446-G-C | MLH1 | c.2041G>C | p.Ala681Pro | Missense | 18/19 | - |
| 16-2136381-G-A | TSC2 | c.4849+1G>A | - | IntronicSNV | - | 37/41 |
| 19-11231100-G-C | LDLR | c.2042G>C | p.Cys681Ser | Missense | 14/18 | - |
| 16-2129172-T-C | TSC2 | c.3106T>C | p.Ser1036Pro | Missense | 27/42 | - |
| 3-37045963-C-G | MLH1 | c.378C>G | p.Tyr126* | Nonsense | 4/19 | - |
| 16-2131670-C-T | TSC2 | c.3685C>T | p.Gln1229* | Nonsense | 31/42 | - |
| 1-237955364-A-G | RYR2 | c.13564-41A>G | - | IntronicSNV | - | 93/104 |
| 16-2115581-C-T | TSC2 | c.1661C>T | p.Ser554Leu | Missense | 16/42 | - |
| 2-48026818-G-A | MSH6 | c.1696G>A | p.Gly566Arg | Missense | 4/10 | - |
| 2-48027625-C-T | MSH6 | c.2503C>T | p.Gln835* | Nonsense | 4/10 | - |
| 3-37055962-C-A | MLH1 | c.717C>A | p.Ala239Ala | Synonymous | 9/19 | - |
| 11-2591945-G-C | KCNQ1 | c.565G>C | p.Gly189Arg | Missense | 3/16 | - |
| 11-2591945-G-A | KCNQ1 | c.565G>A | p.Gly189Arg | Missense | 3/16 | - |
| 3-37090506-C-T | MLH1 | c.2101C>T | p.Gln701* | Nonsense | 18/19 | - |
| 3-37045963-C-T | MLH1 | c.378C>T | p.Tyr126Tyr | Synonymous | 4/19 | - |
| 15-48780418-A-G | FBN1 | c.3229T>C | p.Ser1077Pro | Missense | 27/66 | - |
| 10-89712021-G-C | PTEN | c.634+5G>C | - | IntronicSNV | - | 6/8 |
| 2-48026818-G-T | MSH6 | c.1696G>T | p.Gly566* | Nonsense | 4/10 | - |
| 15-48704816-G-C | FBN1 | c.8176C>G | p.Arg2726Gly | Missense | 65/66 | - |
| 16-2133798-G-A | TSC2 | c.3986G>A | p.Arg1329His | Missense | 33/42 | - |
| 15-48797335-T-C | FBN1 | c.1847A>G | p.Glu616Gly | Missense | 16/66 | - |
| 16-2136321-T-C | TSC2 | c.4790T>C | p.Leu1597Pro | Missense | 37/42 | - |
| 17-41226420-C-T | BRCA1 | c.4603G>A | p.Glu1535Lys | Missense | 14/23 | - |
| 19-38976481-T-G | RYR1 | c.5186T>G | p.Met1729Arg | Missense | 34/106 | - |
| 16-2131647-C-A | TSC2 | c.3662C>A | p.Ser1221* | Nonsense | 31/42 | - |
| 17-41226420-C-A | BRCA1 | c.4603G>T | p.Glu1535* | Nonsense | 14/23 | - |
| 19-55665436-C-T | TNNI3 | c.511G>A | p.Ala171Thr | Missense | 7/8 | - |
| 17-41244122-T-C | BRCA1 | c.3426A>G | p.Ala1142Ala | Synonymous | 10/23 | - |
| 6-7570791-G-A | DSP | c.1696G>A | p.Ala566Thr | Missense | 13/24 | - |
| 17-41223240-A-G | BRCA1 | c.4691T>C | p.Leu1564Pro | Missense | 15/23 | - |
| 19-38989817-A-G | RYR1 | c.6961A>G | p.Ile2321Val | Missense | 43/106 | - |
| 16-2122854-C-G | TSC2 | c.2225C>G | p.Ser742* | Nonsense | 21/42 | - |
| 1-156105894-T-C | LMNA | c.1139T>C | p.Leu380Ser | Missense | 6/12 | - |
| 13-32911650-T-G | BRCA2 | c.3158T>G | p.Leu1053* | Nonsense | 11/27 | - |
| 3-37083822-G-C | MLH1 | c.1731G>C | p.Ser577Ser | Synonymous | 15/19 | - |
| 19-1220487-G-A | STK11 | c.580G>A | p.Asp194Asn | Missense | 4/10 | - |
| 16-2115581-C-A | TSC2 | c.1661C>A | p.Ser554* | Nonsense | 16/42 | - |
| 7-150644817-G-T | KCNH2 | c.2842C>A | p.Arg948Ser | Missense | 12/15 | - |
| 13-32937506-G-C | BRCA2 | c.8167G>C | p.Asp2723His | Missense | 18/27 | - |
| 7-150648906-C-A | KCNH2 | c.1575G>T | p.Lys525Asn | Missense | 7/15 | - |
| 3-37042467-T-C | MLH1 | c.229T>C | p.Cys77Arg | Missense | 3/19 | - |
| 19-39075695-C-A | RYR1 | c.14759C>A | p.Thr4920Asn | Missense | 102/106 | - |
| 3-37083822-G-A | MLH1 | c.1731G>A | p.Ser577Ser | Synonymous | 15/19 | - |
| 3-37083822-G-T | MLH1 | c.1731G>T | p.Ser577Ser | Synonymous | 15/19 | - |
| 17-41244716-A-T | BRCA1 | c.2832T>A | p.Cys944* | Nonsense | 10/23 | - |
| 9-135779842-C-T | TSC1 | c.1998-1G>A | - | IntronicSNV | - | 15/22 |
| 9-135779842-C-A | TSC1 | c.1998-1G>T | - | IntronicSNV | - | 15/22 |
| 9-135779842-C-G | TSC1 | c.1998-1G>C | - | IntronicSNV | - | 15/22 |
| 19-38990344-C-G | RYR1 | c.7097C>G | p.Pro2366Arg | Missense | 44/106 | - |
| 3-37070286-G-A | MLH1 | c.1421G>A | p.Arg474Gln | Missense | 13/19 | - |
| 17-41197751-G-A | BRCA1 | c.5536C>T | p.Gln1846* | Nonsense | 23/23 | - |
| 19-39070706-A-T | RYR1 | c.14449A>T | p.Ile4817Phe | Missense | 100/106 | - |
| 15-48704816-G-A | FBN1 | c.8176C>T | p.Arg2726Trp | Missense | 65/66 | - |
| 17-41215958-A-T | BRCA1 | c.5085T>A | p.Phe1695Leu | Missense | 17/23 | - |
| 5-112175211-T-A | APC | c.3920T>A | p.Ile1307Lys | Missense | 16/16 | - |
| 15-48734013-A-G | FBN1 | c.6068T>C | p.Ile2023Thr | Missense | 50/66 | - |
| 3-37042549-G-A | MLH1 | c.306+5G>A | - | IntronicSNV | - | 3/18 |
| 1-55523127-G-C | PCSK9 | c.1120G>C | p.Asp374His | Missense | 7/12 | - |
| 17-41246344-C-A | BRCA1 | c.1204G>T | p.Glu402* | Nonsense | 10/23 | - |
| 7-150648604-C-A | KCNH2 | c.1877G>T | p.Gly626Val | Missense | 7/15 | - |
| 7-150648604-C-G | KCNH2 | c.1877G>C | p.Gly626Ala | Missense | 7/15 | - |
| 7-150648604-C-T | KCNH2 | c.1877G>A | p.Gly626Asp | Missense | 7/15 | - |
| 17-41201205-A-G | BRCA1 | c.5339T>C | p.Leu1780Pro | Missense | 21/23 | - |
| 3-37070352-C-G | MLH1 | c.1487C>G | p.Pro496Arg | Missense | 13/19 | - |
| 7-150656690-G-T | KCNH2 | c.442C>A | p.Arg148Arg | Synonymous | 3/15 | - |
| 7-150656690-G-A | KCNH2 | c.442C>T | p.Arg148Trp | Missense | 3/15 | - |
| 17-41223202-A-G | BRCA1 | c.4729T>C | p.Ser1577Pro | Missense | 15/23 | - |
| 11-64575044-C-T | MEN1 | c.778G>A | p.Glu260Lys | Missense | 4/10 | - |
| 7-6031649-G-A | PMS2 | c.943C>T | p.Arg315* | Nonsense | 9/15 | - |
| 16-2110812-C-T | TSC2 | c.1117C>T | p.Gln373* | Nonsense | 11/42 | - |
| 13-32937504-C-T | BRCA2 | c.8165C>T | p.Thr2722Ile | Missense | 18/27 | - |
| 1-17371298-C-T | SDHB | c.158G>A | p.Gly53Glu | Missense | 2/8 | - |
| 13-32937504-C-G | BRCA2 | c.8165C>G | p.Thr2722Arg | Missense | 18/27 | - |
| 13-32937504-C-A | BRCA2 | c.8165C>A | p.Thr2722Lys | Missense | 18/27 | - |
| 3-37053500-A-G | MLH1 | c.589-2A>G | - | IntronicSNV | - | 7/18 |
| 3-37053500-A-C | MLH1 | c.589-2A>C | - | IntronicSNV | - | 7/18 |
| 9-135786503-G-C | TSC1 | c.1030-3C>G | - | IntronicSNV | - | 10/22 |
| 9-135796793-C-A | TSC1 | c.694G>T | p.Glu232* | Nonsense | 8/23 | - |
| 16-2122849-G-C | TSC2 | c.2221-1G>C | - | IntronicSNV | - | 20/41 |
| 16-2122849-G-A | TSC2 | c.2221-1G>A | - | IntronicSNV | - | 20/41 |
| 1-55509689-T-A | PCSK9 | c.381T>A | p.Ser127Arg | Missense | 2/12 | - |
| 16-2134521-C-T | TSC2 | c.4298C>T | p.Ser1433Leu | Missense | 34/42 | - |
| 15-48733968-C-T | FBN1 | c.6113G>A | p.Cys2038Tyr | Missense | 50/66 | - |
| 13-32937582-G-A | BRCA2 | c.8243G>A | p.Gly2748Asp | Missense | 18/27 | - |
| 13-32911757-C-T | BRCA2 | c.3265C>T | p.Gln1089* | Nonsense | 11/27 | - |
| 7-150648613-G-A | KCNH2 | c.1868C>T | p.Thr623Ile | Missense | 7/15 | - |
| 15-48797234-G-A | FBN1 | c.1948C>T | p.Arg650Cys | Missense | 16/66 | - |
| 16-2134521-C-A | TSC2 | c.4298C>A | p.Ser1433* | Nonsense | 34/42 | - |
| 16-2134521-C-G | TSC2 | c.4298C>G | p.Ser1433Trp | Missense | 34/42 | - |
| 13-32890665-G-A | BRCA2 | c.67+1G>A | - | IntronicSNV | - | 2/26 |
| 13-32890665-G-T | BRCA2 | c.67+1G>T | - | IntronicSNV | - | 2/26 |
| 7-150648717-G-T | KCNH2 | c.1764C>A | p.Asn588Lys | Missense | 7/15 | - |
| 16-2130379-G-A | TSC2 | c.3610+1G>A | - | IntronicSNV | - | 30/41 |
| 1-45797139-G-A | MUTYH | c.1267C>T | p.Arg423Cys | Missense | 13/16 | - |
| 19-38931469-C-T | RYR1 | c.130C>T | p.Arg44Cys | Missense | 2/106 | - |
| 16-2110656-G-A | TSC2 | c.976-15G>A | - | IntronicSNV | - | 10/41 |
| 17-41197765-C-G | BRCA1 | c.5522G>C | p.Ser1841Thr | Missense | 23/23 | - |
| 17-41197765-C-T | BRCA1 | c.5522G>A | p.Ser1841Asn | Missense | 23/23 | - |
| 9-135786501-C-T | TSC1 | c.1030-1G>A | - | IntronicSNV | - | 10/22 |
| 16-2133749-G-T | TSC2 | c.3937G>T | p.Glu1313* | Nonsense | 33/42 | - |
| 6-7575014-C-T | DSP | c.2422C>T | p.Arg808Cys | Missense | 17/24 | - |
| 3-37061871-G-T | MLH1 | c.955G>T | p.Glu319* | Nonsense | 11/19 | - |
| 15-48802262-G-A | FBN1 | c.1693C>T | p.Arg565* | Nonsense | 14/66 | - |
| 3-37061871-G-A | MLH1 | c.955G>A | p.Glu319Lys | Missense | 11/19 | - |
| 19-38980770-T-A | RYR1 | c.5869T>A | p.Ser1957Thr | Missense | 36/106 | - |
| 3-37067243-G-C | MLH1 | c.1154G>C | p.Arg385Pro | Missense | 12/19 | - |
| 19-38985204-C-T | RYR1 | c.6487C>T | p.Arg2163Cys | Missense | 39/106 | - |
| 1-45796899-C-T | MUTYH | c.1422G>A | p.Thr474Thr | Synonymous | 14/16 | - |
| 15-48703477-G-C | FBN1 | c.8326C>G | p.Arg2776Gly | Missense | 66/66 | - |
| 1-156107534-C-T | LMNA | c.1698C>T | p.His566His | Synonymous | 10/12 | - |
| 19-38939431-G-A | RYR1 | c.1100G>A | p.Arg367Gln | Missense | 11/106 | - |
| 16-2130303-G-T | TSC2 | c.3535G>T | p.Glu1179* | Nonsense | 30/42 | - |
| 3-37053560-T-G | MLH1 | c.647T>G | p.Ile216Ser | Missense | 8/19 | - |
| 9-135778098-T-C | TSC1 | c.2285A>G | p.Asn762Ser | Missense | 18/23 | - |
| 2-47707978-C-G | MSH2 | c.2602C>G | p.Pro868Ala | Missense | 15/16 | - |
| 3-37067243-G-T | MLH1 | c.1154G>T | p.Arg385Leu | Missense | 12/19 | - |
| 17-41244229-C-A | BRCA1 | c.3319G>T | p.Glu1107* | Nonsense | 10/23 | - |
| 16-2133725-C-T | TSC2 | c.3913C>T | p.Pro1305Ser | Missense | 33/42 | - |
| 16-2138031-A-G | TSC2 | c.5069-18A>G | - | IntronicSNV | - | 39/41 |
| 16-2134541-C-T | TSC2 | c.4318C>T | p.Gln1440* | Nonsense | 34/42 | - |
| 16-2130303-G-A | TSC2 | c.3535G>A | p.Glu1179Lys | Missense | 30/42 | - |
| 13-32911295-G-T | BRCA2 | c.2803G>T | p.Asp935Tyr | Missense | 11/27 | - |
| 13-32911295-G-C | BRCA2 | c.2803G>C | p.Asp935His | Missense | 11/27 | - |
| 2-47707978-C-T | MSH2 | c.2602C>T | p.Pro868Ser | Missense | 15/16 | - |
| 15-48779581-T-A | FBN1 | c.3391A>T | p.Asn1131Tyr | Missense | 28/66 | - |
| 17-41244118-G-A | BRCA1 | c.3430C>T | p.Gln1144* | Nonsense | 10/23 | - |
| 16-2112495-C-A | TSC2 | c.1258-3C>A | - | IntronicSNV | - | 12/41 |
| 1-201331116-C-G | TNNT2 | c.635G>C | p.Arg212Pro | Missense | 13/16 | - |
| 1-201331116-C-A | TNNT2 | c.635G>T | p.Arg212Leu | Missense | 13/16 | - |
| 1-201331116-C-T | TNNT2 | c.635G>A | p.Arg212Gln | Missense | 13/16 | - |
| 16-2112495-C-G | TSC2 | c.1258-3C>G | - | IntronicSNV | - | 12/41 |
| 2-189873687-G-A | COL3A1 | c.3563G>A | p.Gly1188Glu | Missense | 48/51 | - |
| 17-41242980-C-T | BRCA1 | c.4166G>A | p.Ser1389Asn | Missense | 11/23 | - |
| 17-41223242-G-A | BRCA1 | c.4689C>T | p.Tyr1563Tyr | Synonymous | 15/23 | - |
| 16-2138275-C-T | TSC2 | c.5208C>T | p.Tyr1736Tyr | Synonymous | 41/42 | - |
| 16-2138275-C-A | TSC2 | c.5208C>A | p.Tyr1736* | Nonsense | 41/42 | - |
| 11-64575454-G-A | MEN1 | c.578C>T | p.Pro193Leu | Missense | 3/10 | - |
| 16-2134536-G-C | TSC2 | c.4313G>C | p.Arg1438Pro | Missense | 34/42 | - |
| 16-2134536-G-A | TSC2 | c.4313G>A | p.Arg1438Gln | Missense | 34/42 | - |
| 17-41197729-T-C | BRCA1 | c.5558A>G | p.Tyr1853Cys | Missense | 23/23 | - |
| 17-41242960-C-T | BRCA1 | c.4185+1G>A | - | IntronicSNV | - | 11/22 |
| 11-64575423-C-T | MEN1 | c.609G>A | p.Trp203* | Nonsense | 3/10 | - |
| 9-135776981-G-A | TSC1 | c.2497C>T | p.Gln833* | Nonsense | 19/23 | - |
| 15-48737627-G-A | FBN1 | c.5863C>T | p.Gln1955* | Nonsense | 48/66 | - |
| 11-47359280-A-G | MYBPC3 | c.2374T>C | p.Trp792Arg | Missense | 24/35 | - |
| 11-47359280-A-C | MYBPC3 | c.2374T>G | p.Trp792Gly | Missense | 24/35 | - |
| 11-47359280-A-T | MYBPC3 | c.2374T>A | p.Trp792Arg | Missense | 24/35 | - |
| 17-41242960-C-A | BRCA1 | c.4185+1G>T | - | IntronicSNV | - | 11/22 |
| 16-2112495-C-T | TSC2 | c.1258-3C>T | - | IntronicSNV | - | 12/41 |
| 11-2591984-G-A | KCNQ1 | c.604G>A | p.Asp202Asn | Missense | 3/16 | - |
| 11-2591984-G-C | KCNQ1 | c.604G>C | p.Asp202His | Missense | 3/16 | - |
| 2-189873678-G-T | COL3A1 | c.3554G>T | p.Gly1185Val | Missense | 48/51 | - |
| 17-41203095-T-A | BRCA1 | c.5317A>T | p.Thr1773Ser | Missense | 20/23 | - |
| 16-2130342-C-T | TSC2 | c.3574C>T | p.Gln1192* | Nonsense | 30/42 | - |
| 15-35082659-T-C | ACTC1 | c.1088A>G | p.Glu363Gly | Missense | 7/7 | - |
| 2-189873678-G-A | COL3A1 | c.3554G>A | p.Gly1185Asp | Missense | 48/51 | - |
| 16-2138508-G-C | TSC2 | c.5321G>C | p.Ser1774Thr | Missense | 42/42 | - |
| 17-41244787-G-A | BRCA1 | c.2761C>T | p.Gln921* | Nonsense | 10/23 | - |
| 13-32912714-C-T | BRCA2 | c.4222C>T | p.Gln1408* | Nonsense | 11/27 | - |
| 7-150648761-T-G | KCNH2 | c.1720A>C | p.Met574Leu | Missense | 7/15 | - |
| 3-37042515-A-G | MLH1 | c.277A>G | p.Ser93Gly | Missense | 3/19 | - |
| 14-23900677-C-A | MYH7 | c.746G>T | p.Arg249Leu | Missense | 9/40 | - |
| 1-237804238-A-T | RYR2 | c.7157A>T | p.Asn2386Ile | Missense | 47/105 | - |
| 7-150648890-G-A | KCNH2 | c.1591C>T | p.Arg531Trp | Missense | 7/15 | - |
| 1-156105704-G-A | LMNA | c.949G>A | p.Glu317Lys | Missense | 6/12 | - |
| 1-156105704-G-T | LMNA | c.949G>T | p.Glu317* | Nonsense | 6/12 | - |
| 7-150648826-A-G | KCNH2 | c.1655T>C | p.Leu552Ser | Missense | 7/15 | - |
| 16-2138552-G-C | TSC2 | c.5365G>C | p.Glu1789Gln | Missense | 42/42 | - |
| 16-2131596-G-A | TSC2 | c.3611G>A | p.Gly1204Glu | Missense | 31/42 | - |
| 3-37083772-T-C | MLH1 | c.1681T>C | p.Tyr561His | Missense | 15/19 | - |
| 17-41201212-C-G | BRCA1 | c.5333-1G>C | - | IntronicSNV | - | 20/22 |
| 1-45796913-C-T | MUTYH | c.1408G>A | p.Ala470Thr | Missense | 14/16 | - |
| 3-37089011-A-G | MLH1 | c.1733A>G | p.Glu578Gly | Missense | 16/19 | - |
| 7-150648917-C-T | KCNH2 | c.1564G>A | p.Gly522Arg | Missense | 7/15 | - |
| 16-2108871-C-A | TSC2 | c.972C>A | p.Tyr324* | Nonsense | 10/42 | - |
| 16-2108871-C-G | TSC2 | c.972C>G | p.Tyr324* | Nonsense | 10/42 | - |
| 15-48760739-C-T | FBN1 | c.4460-8G>A | - | IntronicSNV | - | 36/65 |
| 15-48779514-C-T | FBN1 | c.3458G>A | p.Cys1153Tyr | Missense | 28/66 | - |
| 1-45799144-G-A | MUTYH | c.280C>T | p.Arg94* | Nonsense | 3/16 | - |
| 17-41209110-G-T | BRCA1 | c.5236C>A | p.His1746Asn | Missense | 19/23 | - |
| 16-2138234-T-C | TSC2 | c.5167T>C | p.Ser1723Pro | Missense | 41/42 | - |
| 7-150648619-C-T | KCNH2 | c.1862G>A | p.Ser621Asn | Missense | 7/15 | - |
| 16-2138321-C-T | TSC2 | c.5254C>T | p.Gln1752* | Nonsense | 41/42 | - |
| 16-2138321-C-G | TSC2 | c.5254C>G | p.Gln1752Glu | Missense | 41/42 | - |
| 13-32936762-T-A | BRCA2 | c.7908T>A | p.Cys2636* | Nonsense | 17/27 | - |
| 17-41209129-A-C | BRCA1 | c.5217T>G | p.Asp1739Glu | Missense | 19/23 | - |
| 3-37067306-G-A | MLH1 | c.1217G>A | p.Ser406Asn | Missense | 12/19 | - |
| 17-41234520-G-A | BRCA1 | c.4258C>T | p.Gln1420* | Nonsense | 12/23 | - |
| 17-41246256-A-C | BRCA1 | c.1292T>G | p.Leu431* | Nonsense | 10/23 | - |
| 3-37038124-C-T | MLH1 | c.131C>T | p.Ser44Phe | Missense | 2/19 | - |
| 3-37038124-C-A | MLH1 | c.131C>A | p.Ser44Tyr | Missense | 2/19 | - |
| 9-135776225-C-A | TSC1 | c.2503-1G>T | - | IntronicSNV | - | 19/22 |
| 13-32893246-G-T | BRCA2 | c.100G>T | p.Glu34* | Nonsense | 3/27 | - |
| 7-150649652-G-T | KCNH2 | c.1418C>A | p.Thr473Asn | Missense | 6/15 | - |
| 17-41234520-G-C | BRCA1 | c.4258C>G | p.Gln1420Glu | Missense | 12/23 | - |
| 3-37061878-G-A | MLH1 | c.962G>A | p.Ser321Asn | Missense | 11/19 | - |
| 1-237791277-G-A | RYR2 | c.6337G>A | p.Val2113Met | Missense | 41/105 | - |
| 7-150654482-T-G | KCNH2 | c.1025A>C | p.Asp342Ala | Missense | 5/15 | - |
| 16-2110737-A-T | TSC2 | c.1042A>T | p.Lys348* | Nonsense | 11/42 | - |
| 3-37061878-G-T | MLH1 | c.962G>T | p.Ser321Ile | Missense | 11/19 | - |
| 17-41245755-A-C | BRCA1 | c.1793T>G | p.Leu598* | Nonsense | 10/23 | - |
| 17-41215905-A-G | BRCA1 | c.5138T>C | p.Val1713Ala | Missense | 17/23 | - |
| 9-135787810-C-A | TSC1 | c.772G>T | p.Glu258* | Nonsense | 9/23 | - |
| 3-37070382-T-C | MLH1 | c.1517T>C | p.Val506Ala | Missense | 13/19 | - |
| 3-37070382-T-A | MLH1 | c.1517T>A | p.Val506Asp | Missense | 13/19 | - |
| 9-135787810-C-T | TSC1 | c.772G>A | p.Glu258Lys | Missense | 9/23 | - |
| 13-32893246-G-A | BRCA2 | c.100G>A | p.Glu34Lys | Missense | 3/27 | - |
| 17-41219694-C-A | BRCA1 | c.5005G>T | p.Ala1669Ser | Missense | 16/23 | - |
| 3-37042530-G-A | MLH1 | c.292G>A | p.Gly98Ser | Missense | 3/19 | - |
| 3-37042530-G-C | MLH1 | c.292G>C | p.Gly98Arg | Missense | 3/19 | - |
| 7-150654482-T-A | KCNH2 | c.1025A>T | p.Asp342Val | Missense | 5/15 | - |
| 16-2129160-C-T | TSC2 | c.3094C>T | p.Arg1032* | Nonsense | 27/42 | - |
| 15-48703477-G-A | FBN1 | c.8326C>T | p.Arg2776* | Nonsense | 66/66 | - |
| 7-150656758-A-C | KCNH2 | c.374T>G | p.Phe125Cys | Missense | 3/15 | - |
| 2-47630448-G-A | MSH2 | c.118G>A | p.Gly40Ser | Missense | 1/16 | - |
| 3-37045952-A-T | MLH1 | c.367A>T | p.Lys123* | Nonsense | 4/19 | - |
| 3-37070399-G-T | MLH1 | c.1534G>T | p.Glu512* | Nonsense | 13/19 | - |
| 2-47707876-G-A | MSH2 | c.2500G>A | p.Ala834Thr | Missense | 15/16 | - |
| 3-37090506-C-A | MLH1 | c.2101C>A | p.Gln701Lys | Missense | 18/19 | - |
| 3-37090464-C-G | MLH1 | c.2059C>G | p.Arg687Gly | Missense | 18/19 | - |
| 7-150671867-G-A | KCNH2 | c.239C>T | p.Ala80Val | Missense | 2/15 | - |
| 3-37045952-A-G | MLH1 | c.367A>G | p.Lys123Glu | Missense | 4/19 | - |
| 17-41197751-G-T | BRCA1 | c.5536C>A | p.Gln1846Lys | Missense | 23/23 | - |
| 1-45796892-C-A | MUTYH | c.1429G>T | p.Glu477* | Nonsense | 14/16 | - |
| 17-41226414-G-A | BRCA1 | c.4609C>T | p.Gln1537* | Nonsense | 14/23 | - |
| 19-38942482-C-T | RYR1 | c.1201C>T | p.Arg401Cys | Missense | 12/106 | - |
| 19-38942482-C-G | RYR1 | c.1201C>G | p.Arg401Gly | Missense | 12/106 | - |
| 3-37083774-C-T | MLH1 | c.1683C>T | p.Tyr561Tyr | Synonymous | 15/19 | - |
| 15-48740965-C-G | FBN1 | c.5671G>C | p.Asp1891His | Missense | 46/66 | - |
| 16-2129323-T-C | TSC2 | c.3178T>C | p.Trp1060Arg | Missense | 28/42 | - |
| 17-41243050-C-T | BRCA1 | c.4097-1G>A | - | IntronicSNV | - | 10/22 |
| 3-37045905-T-G | MLH1 | c.320T>G | p.Ile107Arg | Missense | 4/19 | - |
| 16-2136810-A-C | TSC2 | c.4927A>C | p.Asn1643His | Missense | 38/42 | - |
| 19-38997592-G-A | RYR1 | c.8816G>A | p.Arg2939Lys | Missense | 57/106 | - |
| 10-89712015-C-G | PTEN | c.633C>G | p.Cys211Trp | Missense | 6/9 | - |
| 3-37061901-C-T | MLH1 | c.985C>T | p.His329Tyr | Missense | 11/19 | - |
| 3-37061901-C-A | MLH1 | c.985C>A | p.His329Asn | Missense | 11/19 | - |
| 13-32907419-G-A | BRCA2 | c.1804G>A | p.Gly602Arg | Missense | 10/27 | - |
| 13-32914461-A-G | BRCA2 | c.5969A>G | p.Asp1990Gly | Missense | 11/27 | - |
| 2-48027482-C-T | MSH6 | c.2360C>T | p.Ala787Val | Missense | 4/10 | - |
| 10-89712015-C-A | PTEN | c.633C>A | p.Cys211* | Nonsense | 6/9 | - |
| 3-37070320-T-A | MLH1 | c.1455T>A | p.Asp485Glu | Missense | 13/19 | - |
| 3-37045891-G-C | MLH1 | c.307-1G>C | - | IntronicSNV | - | 3/18 |
| 7-150648880-C-A | KCNH2 | c.1601G>T | p.Arg534Leu | Missense | 7/15 | - |
| 16-2129148-G-A | TSC2 | c.3082G>A | p.Asp1028Asn | Missense | 27/42 | - |
| 7-150648703-A-C | KCNH2 | c.1778T>G | p.Ile593Arg | Missense | 7/15 | - |
| 9-135796754-G-A | TSC1 | c.733C>T | p.Arg245* | Nonsense | 8/23 | - |
| 9-135800975-T-A | TSC1 | c.362A>T | p.Lys121Met | Missense | 5/23 | - |
| 9-135800975-T-C | TSC1 | c.362A>G | p.Lys121Arg | Missense | 5/23 | - |
| 3-37038115-A-G | MLH1 | c.122A>G | p.Asp41Gly | Missense | 2/19 | - |
| 16-2138144-A-C | TSC2 | c.5160+4A>C | - | IntronicSNV | - | 40/41 |
| 17-41245927-G-A | BRCA1 | c.1621C>T | p.Gln541* | Nonsense | 10/23 | - |
| 16-2110791-G-T | TSC2 | c.1096G>T | p.Glu366* | Nonsense | 11/42 | - |
| 16-2110791-G-A | TSC2 | c.1096G>A | p.Glu366Lys | Missense | 11/42 | - |
| 17-41223094-T-C | BRCA1 | c.4837A>G | p.Ser1613Gly | Missense | 15/23 | - |
| 6-7575019-T-A | DSP | c.2427T>A | p.Cys809* | Nonsense | 17/24 | - |
| 13-48939097-G-A | RB1 | c.929G>A | p.Gly310Glu | Missense | 9/27 | - |
| 7-150648703-A-G | KCNH2 | c.1778T>C | p.Ile593Thr | Missense | 7/15 | - |
| 9-135796749-C-T | TSC1 | c.737+1G>A | - | IntronicSNV | - | 8/22 |
| 9-135796749-C-A | TSC1 | c.737+1G>T | - | IntronicSNV | - | 8/22 |
| 3-37038115-A-T | MLH1 | c.122A>T | p.Asp41Val | Missense | 2/19 | - |
| 3-37090508-G-C | MLH1 | c.2103G>C | p.Gln701His | Missense | 18/19 | - |
| 3-37090508-G-A | MLH1 | c.2103G>A | p.Gln701Gln | Synonymous | 18/19 | - |
| 5-112173429-C-G | APC | c.2138C>G | p.Ser713* | Nonsense | 16/16 | - |
| 19-38931470-G-A | RYR1 | c.131G>A | p.Arg44His | Missense | 2/106 | - |
| 7-117280015-C-T | CFTR | c.3717+12191C>T | - | IntronicSNV | - | 22/26 |
| 7-117280015-C-G | CFTR | c.3718-2477C>G | - | IntronicSNV | - | 22/26 |
| 17-41197777-C-T | BRCA1 | c.5510G>A | p.Trp1837* | Nonsense | 23/23 | - |
| 13-32907277-T-G | BRCA2 | c.1662T>G | p.Cys554Trp | Missense | 10/27 | - |
| 17-41246481-T-C | BRCA1 | c.1067A>G | p.Gln356Arg | Missense | 10/23 | - |
| 17-41244435-T-G | BRCA1 | c.3113A>C | p.Glu1038Ala | Missense | 10/23 | - |
| 3-37090464-C-T | MLH1 | c.2059C>T | p.Arg687Trp | Missense | 18/19 | - |
| 3-37090099-A-C | MLH1 | c.1988A>C | p.Glu663Ala | Missense | 17/19 | - |
| 11-2591975-T-G | KCNQ1 | c.595T>G | p.Ser199Ala | Missense | 3/16 | - |
| 17-41219646-T-C | BRCA1 | c.5053A>G | p.Thr1685Ala | Missense | 16/23 | - |
| 9-135780967-C-T | TSC1 | c.1997+1G>A | - | IntronicSNV | - | 15/22 |
| 9-135796750-C-G | TSC1 | c.737G>C | p.Arg246Thr | Missense | 8/23 | - |
| 3-37083793-T-A | MLH1 | c.1702T>A | p.Phe568Ile | Missense | 15/19 | - |
| 2-48030741-G-T | MSH6 | c.3355G>T | p.Glu1119* | Nonsense | 5/10 | - |
| 19-38990310-C-T | RYR1 | c.7063C>T | p.Arg2355Trp | Missense | 44/106 | - |
| 17-41243451-C-T | BRCA1 | c.4096+1G>A | - | IntronicSNV | - | 10/22 |
| 3-37067365-C-T | MLH1 | c.1276C>T | p.Gln426* | Nonsense | 12/19 | - |
| 16-2110795-G-C | TSC2 | c.1100G>C | p.Arg367Pro | Missense | 11/42 | - |
| 3-37090509-G-C | MLH1 | c.2103+1G>C | - | IntronicSNV | - | 18/18 |
| 3-37090509-G-A | MLH1 | c.2103+1G>A | - | IntronicSNV | - | 18/18 |
| 3-37090509-G-T | MLH1 | c.2103+1G>T | - | IntronicSNV | - | 18/18 |
| 3-37061803-T-G | MLH1 | c.887T>G | p.Leu296* | Nonsense | 11/19 | - |
| 3-37061803-T-C | MLH1 | c.887T>C | p.Leu296Ser | Missense | 11/19 | - |
| 3-37055976-G-T | MLH1 | c.731G>T | p.Gly244Val | Missense | 9/19 | - |
| 16-2138565-G-A | TSC2 | c.5378G>A | p.Arg1793Gln | Missense | 42/42 | - |
| 16-2137942-G-C | TSC2 | c.5068G>C | p.Asp1690His | Missense | 39/42 | - |
| 16-2137942-G-A | TSC2 | c.5068G>A | p.Asp1690Asn | Missense | 39/42 | - |
| 16-2110795-G-A | TSC2 | c.1100G>A | p.Arg367Gln | Missense | 11/42 | - |
| 14-23900798-C-T | MYH7 | c.728G>A | p.Arg243His | Missense | 8/40 | - |
| 3-37090464-C-A | MLH1 | c.2059C>A | p.Arg687Arg | Synonymous | 18/19 | - |
| 7-150648767-C-T | KCNH2 | c.1714G>A | p.Gly572Ser | Missense | 7/15 | - |
| 16-2110704-G-A | TSC2 | c.1009G>A | p.Glu337Lys | Missense | 11/42 | - |
| 16-2110704-G-T | TSC2 | c.1009G>T | p.Glu337* | Nonsense | 11/42 | - |
| 16-2120530-A-G | TSC2 | c.1790A>G | p.His597Arg | Missense | 17/42 | - |
| 19-38985205-G-C | RYR1 | c.6488G>C | p.Arg2163Pro | Missense | 39/106 | - |
| 15-48748913-C-T | FBN1 | c.5343G>A | p.Val1781Val | Synonymous | 44/66 | - |
| 15-35083364-C-T | ACTC1 | c.941G>A | p.Arg314His | Missense | 6/7 | - |
| 16-2110791-G-C | TSC2 | c.1096G>C | p.Glu366Gln | Missense | 11/42 | - |
| 7-150644799-G-A | KCNH2 | c.2860C>T | p.Arg954Cys | Missense | 12/15 | - |
| 17-41223094-T-A | BRCA1 | c.4837A>T | p.Ser1613Cys | Missense | 15/23 | - |
| 15-48760724-A-G | FBN1 | c.4467T>C | p.Asn1489Asn | Synonymous | 37/66 | - |
| 3-38592247-C-G | SCN5A | c.5616G>C | p.Lys1872Asn | Missense | 28/28 | - |
| 9-135800987-A-G | TSC1 | c.350T>C | p.Leu117Pro | Missense | 5/23 | - |
| 7-150648643-G-A | KCNH2 | c.1838C>T | p.Thr613Met | Missense | 7/15 | - |
| 16-2126587-G-T | TSC2 | c.2837+1G>T | - | IntronicSNV | - | 25/41 |
| 19-1220487-G-T | STK11 | c.580G>T | p.Asp194Tyr | Missense | 4/10 | - |
| 9-135796805-G-A | TSC1 | c.682C>T | p.Arg228* | Nonsense | 8/23 | - |
| 11-111959726-A-G | SDHD | c.305A>G | p.His102Arg | Missense | 3/4 | - |
| 16-2134512-G-A | TSC2 | c.4289G>A | p.Trp1430* | Nonsense | 34/42 | - |
| 1-45800146-C-T | MUTYH | c.74G>A | p.Gly25Asp | Missense | 2/16 | - |
| 15-48703426-A-G | FBN1 | c.8377T>C | p.Tyr2793His | Missense | 66/66 | - |
| 22-30070871-G-T | NF2 | c.1387G>T | p.Glu463* | Nonsense | 13/16 | - |
| 13-32893207-T-A | BRCA2 | c.68-7T>A | - | IntronicSNV | - | 2/26 |
| 6-7575014-C-A | DSP | c.2422C>A | p.Arg808Ser | Missense | 17/24 | - |
| 1-156106048-C-T | LMNA | c.1201C>T | p.Arg401Cys | Missense | 7/12 | - |
| 1-156106048-C-A | LMNA | c.1201C>A | p.Arg401Ser | Missense | 7/12 | - |
| 19-39016095-C-T | RYR1 | c.10579C>T | p.Pro3527Ser | Missense | 71/106 | - |
| 17-7579618-A-T | TP53 | c.97-28T>A | - | IntronicSNV | - | 3/10 |
| 17-41203121-A-G | BRCA1 | c.5291T>C | p.Leu1764Pro | Missense | 20/23 | - |
| 3-37067281-C-G | MLH1 | c.1192C>G | p.Gln398Glu | Missense | 12/19 | - |
| 22-30070871-G-A | NF2 | c.1387G>A | p.Glu463Lys | Missense | 13/16 | - |
| 6-7572161-C-T | DSP | c.1990C>T | p.Gln664* | Nonsense | 15/24 | - |
| 13-32903621-A-G | BRCA2 | c.673A>G | p.Thr225Ala | Missense | 8/27 | - |
| 3-37070393-C-T | MLH1 | c.1528C>T | p.Gln510* | Nonsense | 13/19 | - |
| 3-37089009-G-A | MLH1 | c.1732-1G>A | - | IntronicSNV | - | 15/18 |
| 15-48802312-T-A | FBN1 | c.1643A>T | p.Asn548Ile | Missense | 14/66 | - |
| 7-150648737-G-A | KCNH2 | c.1744C>T | p.Arg582Cys | Missense | 7/15 | - |
| 3-37061902-A-C | MLH1 | c.986A>C | p.His329Pro | Missense | 11/19 | - |
| 9-135787833-A-G | TSC1 | c.749T>C | p.Leu250Ser | Missense | 9/23 | - |
| 3-37067281-C-T | MLH1 | c.1192C>T | p.Gln398* | Nonsense | 12/19 | - |
| 17-41215934-A-C | BRCA1 | c.5109T>G | p.Tyr1703* | Nonsense | 17/23 | - |
| 17-41209110-G-C | BRCA1 | c.5236C>G | p.His1746Asp | Missense | 19/23 | - |
| 17-41209110-G-A | BRCA1 | c.5236C>T | p.His1746Tyr | Missense | 19/23 | - |
| 17-41199698-A-G | BRCA1 | c.5429T>C | p.Val1810Ala | Missense | 22/23 | - |
| 17-41215934-A-G | BRCA1 | c.5109T>C | p.Tyr1703Tyr | Synonymous | 17/23 | - |
| 3-38592347-T-C | SCN5A | c.5516A>G | p.Asp1839Gly | Missense | 28/28 | - |
| 17-41244370-C-A | BRCA1 | c.3178G>T | p.Glu1060* | Nonsense | 10/23 | - |
| 17-41244370-C-G | BRCA1 | c.3178G>C | p.Glu1060Gln | Missense | 10/23 | - |
| 3-37067386-G-C | MLH1 | c.1297G>C | p.Glu433Gln | Missense | 12/19 | - |
| 16-2130198-G-A | TSC2 | c.3430G>A | p.Val1144Met | Missense | 30/42 | - |
| 3-37067386-G-A | MLH1 | c.1297G>A | p.Glu433Lys | Missense | 12/19 | - |
| 3-37067386-G-T | MLH1 | c.1297G>T | p.Glu433* | Nonsense | 12/19 | - |
| 2-48026596-A-G | MSH6 | c.1474A>G | p.Met492Val | Missense | 4/10 | - |
| 3-37042540-G-T | MLH1 | c.302G>T | p.Gly101Val | Missense | 3/19 | - |
| 16-2138573-C-A | TSC2 | c.5386C>A | p.Leu1796Ile | Missense | 42/42 | - |
| 3-37042540-G-A | MLH1 | c.302G>A | p.Gly101Asp | Missense | 3/19 | - |
| 1-237550653-A-G | RYR2 | c.649A>G | p.Ile217Val | Missense | 9/105 | - |
| 16-2138573-C-T | TSC2 | c.5386C>T | p.Leu1796Phe | Missense | 42/42 | - |
| 17-41215963-C-T | BRCA1 | c.5080G>A | p.Glu1694Lys | Missense | 17/23 | - |
| 17-41215963-C-A | BRCA1 | c.5080G>T | p.Glu1694* | Nonsense | 17/23 | - |
| 7-150644849-C-T | KCNH2 | c.2810G>A | p.Ser937Asn | Missense | 12/15 | - |
| 1-237778084-G-A | RYR2 | c.5656G>A | p.Gly1886Ser | Missense | 37/105 | - |
| 1-237778084-G-T | RYR2 | c.5656G>T | p.Gly1886Cys | Missense | 37/105 | - |
| 16-2130277-C-A | TSC2 | c.3509C>A | p.Ser1170* | Nonsense | 30/42 | - |
| 7-150655572-C-T | KCNH2 | c.491G>A | p.Arg164His | Missense | 4/15 | - |
| 7-150671825-A-C | KCNH2 | c.281T>G | p.Val94Gly | Missense | 2/15 | - |
| 13-32954282-G-A | BRCA2 | c.9256G>A | p.Gly3086Arg | Missense | 24/27 | - |
| 16-2138106-C-G | TSC2 | c.5126C>G | p.Pro1709Arg | Missense | 40/42 | - |
| 13-32954282-G-T | BRCA2 | c.9256G>T | p.Gly3086* | Nonsense | 24/27 | - |
| 17-41234558-A-G | BRCA1 | c.4220T>C | p.Leu1407Pro | Missense | 12/23 | - |
| 2-21225753-C-A | APOB | c.12541G>T | p.Glu4181* | Nonsense | 29/29 | - |
| 17-41234558-A-T | BRCA1 | c.4220T>A | p.Leu1407His | Missense | 12/23 | - |
| 17-41234558-A-C | BRCA1 | c.4220T>G | p.Leu1407Arg | Missense | 12/23 | - |
| 17-41244262-G-A | BRCA1 | c.3286C>T | p.Gln1096* | Nonsense | 10/23 | - |
| 9-135787769-A-T | TSC1 | c.813T>A | p.Tyr271* | Nonsense | 9/23 | - |
| 17-41244262-G-T | BRCA1 | c.3286C>A | p.Gln1096Lys | Missense | 10/23 | - |
| 9-135787769-A-G | TSC1 | c.813T>C | p.Tyr271Tyr | Synonymous | 9/23 | - |
| 3-37092046-C-T | MLH1 | c.2173C>T | p.Arg725Cys | Missense | 19/19 | - |
| 9-135800973-C-T | TSC1 | c.363+1G>A | - | IntronicSNV | - | 5/22 |
| 9-135800973-C-A | TSC1 | c.363+1G>T | - | IntronicSNV | - | 5/22 |
| 2-48033977-T-A | MSH6 | c.4061T>A | p.Leu1354Gln | Missense | 10/10 | - |
| 17-41199702-C-T | BRCA1 | c.5425G>A | p.Val1809Ile | Missense | 22/23 | - |
| 2-48033977-T-C | MSH6 | c.4061T>C | p.Leu1354Pro | Missense | 10/10 | - |
| 11-64575044-C-G | MEN1 | c.778G>C | p.Glu260Gln | Missense | 4/10 | - |
| 17-41245801-T-C | BRCA1 | c.1747A>G | p.Lys583Glu | Missense | 10/23 | - |
| 17-41245801-T-A | BRCA1 | c.1747A>T | p.Lys583* | Nonsense | 10/23 | - |
| 16-2138047-A-G | TSC2 | c.5069-2A>G | - | IntronicSNV | - | 39/41 |
| 16-2138047-A-C | TSC2 | c.5069-2A>C | - | IntronicSNV | - | 39/41 |
| 3-37092036-T-A | MLH1 | c.2163T>A | p.Tyr721* | Nonsense | 19/19 | - |
| 1-55525315-C-A | PCSK9 | c.1660C>A | p.Gln554Lys | Missense | 10/12 | - |
| 1-55525315-C-G | PCSK9 | c.1660C>G | p.Gln554Glu | Missense | 10/12 | - |
| 3-37061824-T-A | MLH1 | c.908T>A | p.Val303Glu | Missense | 11/19 | - |
| 3-37067240-T-A | MLH1 | c.1151T>A | p.Val384Asp | Missense | 12/19 | - |
| 3-37090099-A-G | MLH1 | c.1988A>G | p.Glu663Gly | Missense | 17/19 | - |
| 13-32937507-A-T | BRCA2 | c.8168A>T | p.Asp2723Val | Missense | 18/27 | - |
| 16-2107105-G-A | TSC2 | c.775-1G>A | - | IntronicSNV | - | 8/41 |
| 19-38931491-C-A | RYR1 | c.152C>A | p.Thr51Asn | Missense | 2/106 | - |
| 16-2130300-C-G | TSC2 | c.3532C>G | p.Gln1178Glu | Missense | 30/42 | - |
| 19-38931491-C-T | RYR1 | c.152C>T | p.Thr51Ile | Missense | 2/106 | - |
| 17-41242961-C-G | BRCA1 | c.4185G>C | p.Gln1395His | Missense | 11/23 | - |
| 17-41242961-C-T | BRCA1 | c.4185G>A | p.Gln1395Gln | Synonymous | 11/23 | - |
| 16-2130300-C-T | TSC2 | c.3532C>T | p.Gln1178* | Nonsense | 30/42 | - |
| 3-37070352-C-T | MLH1 | c.1487C>T | p.Pro496Leu | Missense | 13/19 | - |
| 3-37070352-C-A | MLH1 | c.1487C>A | p.Pro496His | Missense | 13/19 | - |
| 10-89717615-C-T | PTEN | c.640C>T | p.Gln214* | Nonsense | 7/9 | - |
| 7-150671985-C-G | KCNH2 | c.121G>C | p.Val41Leu | Missense | 2/15 | - |
| 9-135786896-G-A | TSC1 | c.973C>T | p.Gln325* | Nonsense | 10/23 | - |
| 7-150648717-G-C | KCNH2 | c.1764C>G | p.Asn588Lys | Missense | 7/15 | - |
| 9-135786896-G-C | TSC1 | c.973C>G | p.Gln325Glu | Missense | 10/23 | - |
| 7-6017340-T-A | PMS2 | c.2324A>T | p.Asn775Ile | Missense | 14/15 | - |
| 16-2138552-G-A | TSC2 | c.5365G>A | p.Glu1789Lys | Missense | 42/42 | - |
| 13-32907447-C-T | BRCA2 | c.1832C>T | p.Ser611Leu | Missense | 10/27 | - |
| 1-45797505-C-A | MUTYH | c.1005G>T | p.Gln335His | Missense | 12/16 | - |
| 1-45797505-C-G | MUTYH | c.1005G>C | p.Gln335His | Missense | 12/16 | - |
| 7-150648761-T-C | KCNH2 | c.1720A>G | p.Met574Val | Missense | 7/15 | - |
| 19-39071043-G-A | RYR1 | c.14545G>A | p.Val4849Ile | Missense | 101/106 | - |
| 7-150648712-C-A | KCNH2 | c.1769G>T | p.Gly590Val | Missense | 7/15 | - |
| 7-150649644-C-T | KCNH2 | c.1426G>A | p.Val476Ile | Missense | 6/15 | - |
| 16-2120523-C-G | TSC2 | c.1783C>G | p.Gln595Glu | Missense | 17/42 | - |
| 13-32937507-A-C | BRCA2 | c.8168A>C | p.Asp2723Ala | Missense | 18/27 | - |
| 13-32937507-A-G | BRCA2 | c.8168A>G | p.Asp2723Gly | Missense | 18/27 | - |
| 3-37038114-G-C | MLH1 | c.121G>C | p.Asp41His | Missense | 2/19 | - |
| 16-2136311-C-T | TSC2 | c.4780C>T | p.Leu1594Leu | Synonymous | 37/42 | - |
| 3-37042537-G-C | MLH1 | c.299G>C | p.Arg100Pro | Missense | 3/19 | - |
| 3-37042537-G-A | MLH1 | c.299G>A | p.Arg100Gln | Missense | 3/19 | - |
| 17-41243029-C-A | BRCA1 | c.4117G>T | p.Glu1373* | Nonsense | 11/23 | - |
| 16-2120523-C-T | TSC2 | c.1783C>T | p.Gln595* | Nonsense | 17/42 | - |
| 16-2136311-C-A | TSC2 | c.4780C>A | p.Leu1594Met | Missense | 37/42 | - |
| 11-64575029-G-A | MEN1 | c.793C>T | p.Gln265* | Nonsense | 4/10 | - |
| 13-32907285-T-G | BRCA2 | c.1670T>G | p.Leu557* | Nonsense | 10/27 | - |
| 17-41245755-A-T | BRCA1 | c.1793T>A | p.Leu598* | Nonsense | 10/23 | - |