PMID: 26269718

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Genome medicine
A Patwardhan, J Harris, N Leng, G Bartha, DM Church, S Luo, C Haudenschild, M Pratt, J Zook, M Salit, J Tirch, M Morra, S Chervitz, M Li, M Clark, S Garcia, G Chandratillake, S Kirk, E Ashley, M Snyder, R Altman, C Bustamante, AJ Butte, J West, R Chen
2015

971 variants were identified in this publication


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 -