PMID: 24055113

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

American journal of human genetics
MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, CJ Gallego, RL Bennett, KL Jones, MJ Tokita, JT Bennett, JH Kim, EA Rosenthal, DS Kim, , HK Tabor, MJ Bamshad, AG Motulsky, CR Scott, CC Pritchard, T Walsh, W Burke, WH Raskind, P Byers, FM Hisama, DA Nickerson, GP Jarvik
2013-10-03

344 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11221444-G-A LDLR c.1057G>A p.Glu353Lys Missense 7/18 -
1-173873176-C-A SERPINC1 c.1246G>T p.Ala416Ser Missense 7/7 -
1-201328373-G-A TNNT2 c.853C>T p.Arg285Cys Missense 16/16 -
7-6027110-G-A PMS2 c.1286C>T p.Thr429Ile Missense 11/15 -
1-173873166-G-A SERPINC1 c.1256C>T p.Ala419Val Missense 7/7 -
11-118963982-G-A HMBS c.1075G>A p.Asp359Asn Missense 14/14 -
10-18787338-G-C CACNB2 c.223G>C p.Glu75Gln Missense 3/13 -
14-94844950-C-T SERPINA1 c.1093G>A p.Asp365Asn Missense 5/5 -
14-94844950-C-A SERPINA1 c.1093G>T p.Asp365Tyr Missense 5/5 -
14-94844950-C-G SERPINA1 c.1093G>C p.Asp365His Missense 5/5 -
3-37035118-G-A MLH1 c.80G>A p.Arg27Gln Missense 1/19 -
10-18828627-A-G CACNB2 c.1792A>G p.Asn598Asp Missense 13/13 -
3-37089082-G-A MLH1 c.1804G>A p.Gly602Ser Missense 16/19 -
3-93595918-T-C PROS1 c.1762A>G p.Thr588Ala Missense 14/15 -
19-11240278-G-A LDLR c.2479G>A p.Val827Ile Missense 17/18 -
17-41244826-C-A BRCA1 c.2722G>T p.Glu908* Nonsense 10/23 -
2-47630468-C-G MSH2 c.138C>G p.His46Gln Missense 1/16 -
13-32912553-C-T BRCA2 c.4061C>T p.Thr1354Met Missense 11/27 -
17-7577069-C-T TP53 c.869G>A p.Arg290His Missense 8/11 -
19-39009932-G-A RYR1 c.10097G>A p.Arg3366His Missense 67/106 -
2-179397432-C-T TTN c.96206G>A p.Arg32069Gln Missense 307/312 -
19-39057626-G-C RYR1 c.13513G>C p.Asp4505His Missense 92/106 -
X-31747837-C-T DMD c.7571G>A p.Arg2524His Missense 52/79 -
10-43619187-C-G RET c.2870C>G p.Pro957Arg Missense 17/20 -
16-2121523-C-T TSC2 c.1852C>T p.Leu618Leu Synonymous 18/42 -
16-2113044-A-G TSC2 c.1433A>G p.Gln478Arg Missense 14/42 -
X-31222203-A-G DMD c.9682T>C p.Phe3228Leu Missense 67/79 -
3-37042495-A-T MLH1 c.257A>T p.Gln86Leu Missense 3/19 -
16-68863576-T-C CDH1 c.2315T>C p.Leu772Pro Missense 15/16 -
11-47362731-C-T MYBPC3 c.1855G>A p.Glu619Lys Missense 19/35 -
18-29122675-T-G DSG2 c.2194T>G p.Phe732Val Missense 14/15 -
13-32914532-G-A BRCA2 c.6040G>A p.Val2014Ile Missense 11/27 -
3-10183685-G-A VHL c.154G>A p.Glu52Lys Missense 1/3 -
10-43600508-T-C RET c.734T>C p.Val245Ala Missense 4/20 -
17-41258486-C-A BRCA1 c.199G>T p.Asp67Tyr Missense 4/23 -
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 -
16-2112008-C-T TSC2 c.1256C>T p.Pro419Leu Missense 12/42 -
10-112540798-C-A RBM20 c.431C>A p.Thr144Asn Missense 2/14 -
19-38989881-A-G RYR1 c.7025A>G p.Asn2342Ser Missense 43/106 -
3-14175304-C-A TMEM43 c.578C>A p.Ser193* Nonsense 7/12 -
13-32929140-C-A BRCA2 c.7150C>A p.Gln2384Lys Missense 14/27 -
10-112544624-C-T RBM20 c.1504C>T p.Pro502Ser Missense 5/14 -
15-48704816-G-A FBN1 c.8176C>T p.Arg2726Trp Missense 65/66 -
19-38989817-A-G RYR1 c.6961A>G p.Ile2321Val Missense 43/106 -
19-35530029-G-A SCN1B c.457G>A p.Asp153Asn Missense 4/6 -
14-75513910-T-C MLH3 c.2449A>G p.Ser817Gly Missense 2/12 -
13-32907407-A-G BRCA2 c.1792A>G p.Thr598Ala Missense 10/27 -
18-29125783-G-T DSG2 c.2434G>T p.Gly812Cys Missense 15/15 -
11-2683265-G-A KCNQ1 c.1468G>A p.Asp490Asn Missense 11/16 -
11-2608850-G-T KCNQ1 c.1179G>T p.Lys393Asn Missense 9/16 -
5-112102960-C-T APC c.295C>T p.Arg99Trp Missense 4/16 -
16-2107163-C-T TSC2 c.832C>T p.His278Tyr Missense 9/42 -
10-112544134-G-A RBM20 c.1373G>A p.Gly458Glu Missense 4/14 -
7-150656690-G-A KCNH2 c.442C>T p.Arg148Trp Missense 3/15 -
17-41246062-G-A BRCA1 c.1486C>T p.Arg496Cys Missense 10/23 -
18-29125783-G-A DSG2 c.2434G>A p.Gly812Ser Missense 15/15 -
18-29125783-G-C DSG2 c.2434G>C p.Gly812Arg Missense 15/15 -
2-189851842-C-T COL3A1 c.505C>T p.Leu169Phe Missense 5/51 -
19-38973933-A-G RYR1 c.4711A>G p.Ile1571Val Missense 33/106 -
11-118963136-G-A HMBS c.674G>A p.Arg225Gln Missense 11/14 -
3-38639408-G-T SCN5A c.2074C>A p.Gln692Lys Missense 14/28 -
12-52314610-C-T ACVRL1 c.1445C>T p.Ala482Val Missense 10/10 -
11-118959973-A-T HMBS c.257A>T p.Glu86Val Missense 5/14 -
5-112176023-T-G APC c.4732T>G p.Cys1578Gly Missense 16/16 -
14-23886807-G-A MYH7 c.4258C>T p.Arg1420Trp Missense 31/40 -
10-112544639-G-A RBM20 c.1519G>A p.Gly507Arg Missense 5/14 -
3-38645379-C-A SCN5A c.1714G>T p.Ala572Ser Missense 12/28 -
16-2130189-G-A TSC2 c.3421G>A p.Ala1141Thr Missense 30/42 -
17-7577091-G-A TP53 c.847C>T p.Arg283Cys Missense 8/11 -
1-201020165-T-A CACNA1S c.4060A>T p.Thr1354Ser Missense 33/44 -
10-43597837-C-T RET c.385C>T p.Pro129Ser Missense 3/20 -
12-2775910-G-A CACNA1C c.4585G>A p.Gly1529Ser Missense 37/47 -
19-1223156-G-A STK11 c.1093G>A p.Asp365Asn Missense 8/10 -
2-179392277-A-G TTN c.99872T>C p.Met33291Thr Missense 311/312 -
10-18789874-C-T CACNB2 c.425C>T p.Ser142Phe Missense 4/13 -
13-32906593-C-A BRCA2 c.978C>A p.Ser326Arg Missense 10/27 -
3-38655278-G-A SCN5A c.659C>T p.Thr220Ile Missense 6/28 -
15-48717640-T-C FBN1 c.7379A>G p.Lys2460Arg Missense 60/66 -
18-28667744-A-T DSC2 c.663T>A p.Tyr221* Nonsense 6/17 -
10-112559638-A-G RBM20 c.1762A>G p.Ile588Val Missense 7/14 -
3-37070297-G-A MLH1 c.1432G>A p.Asp478Asn Missense 13/19 -
18-28667744-A-G DSC2 c.663T>C p.Tyr221Tyr Synonymous 6/17 -
2-189860458-C-T COL3A1 c.1550C>T p.Pro517Leu Missense 22/51 -
19-11224005-C-T LDLR c.1238C>T p.Thr413Met Missense 9/18 -
6-7580795-C-G DSP c.4372C>G p.Arg1458Gly Missense 23/24 -
3-38639416-C-T SCN5A c.2066G>A p.Arg689His Missense 14/28 -
3-30713660-G-A TGFBR2 c.1060G>A p.Ala354Thr Missense 5/8 -
1-156100524-T-G LMNA c.473T>G p.Leu158Arg Missense 2/12 -
1-156108384-G-A LMNA c.1804G>A p.Gly602Ser Missense 11/12 -
15-48713001-C-T FBN1 c.7702G>A p.Val2568Met Missense 63/66 -
2-189849935-C-T COL3A1 c.295C>T p.Pro99Ser Missense 3/51 -
13-32910630-A-T BRCA2 c.2138A>T p.Gln713Leu Missense 11/27 -
12-33031132-C-T PKP2 c.682G>A p.Asp228Asn Missense 3/14 -
11-2549229-C-T KCNQ1 c.458C>T p.Thr153Met Missense 2/16 -
1-201028397-T-C CACNA1S c.3445A>G p.Ile1149Val Missense 27/44 -
10-43610083-C-T RET c.2035C>T p.Pro679Ser Missense 11/20 -
12-111350901-T-G MYL2 c.401A>C p.Glu134Ala Missense 6/7 -
13-32953971-C-T BRCA2 c.9038C>T p.Thr3013Ile Missense 23/27 -
11-47364189-C-T MYBPC3 c.1564G>A p.Ala522Thr Missense 17/35 -
13-32911937-A-G BRCA2 c.3445A>G p.Met1149Val Missense 11/27 -
16-2111998-G-T TSC2 c.1246G>T p.Asp416Tyr Missense 12/42 -
1-237941988-A-G RYR2 c.11798A>G p.Gln3933Arg Missense 88/105 -
19-11211016-C-T LDLR c.185C>T p.Thr62Met Missense 2/18 -
19-11210979-G-T LDLR c.148G>T p.Ala50Ser Missense 2/18 -
17-41245233-A-G BRCA1 c.2315T>C p.Val772Ala Missense 10/23 -
17-41243800-C-T BRCA1 c.3748G>A p.Glu1250Lys Missense 10/23 -
18-28650748-A-C DSC2 c.2194T>G p.Leu732Val Missense 14/17 -
3-38591960-A-C SCN5A c.5903T>G p.Ile1968Ser Missense 28/28 -
19-11221411-G-A LDLR c.1024G>A p.Asp342Asn Missense 7/18 -
3-32181826-T-G GPD1L c.473T>G p.Val158Gly Missense 4/8 -
1-201013571-G-A CACNA1S c.4682C>T p.Thr1561Ile Missense 39/44 -
17-41209094-C-T BRCA1 c.5252G>A p.Arg1751Gln Missense 19/23 -
12-111356964-C-T MYL2 c.37G>A p.Ala13Thr Missense 2/7 -
14-23885257-C-T MYH7 c.4909G>A p.Ala1637Thr Missense 34/40 -
16-68849611-T-C CDH1 c.1514T>C p.Ile505Thr Missense 10/16 -
11-2610043-G-A KCNQ1 c.1352G>A p.Arg451Gln Missense 10/16 -
12-2797868-G-A CACNA1C c.6040G>A p.Val2014Ile Missense 46/47 -
16-2110791-G-A TSC2 c.1096G>A p.Glu366Lys Missense 11/42 -
1-156100408-C-T LMNA c.357C>T p.Arg119Arg Synonymous 2/12 -
19-11213445-C-G LDLR c.296C>G p.Ser99* Nonsense 3/18 -
3-37067146-G-A MLH1 c.1057G>A p.Ala353Thr Missense 12/19 -
10-112544125-C-T RBM20 c.1364C>T p.Ser455Leu Missense 4/14 -
12-2795361-C-G CACNA1C c.5710C>G p.Leu1904Val Missense 45/47 -
10-43595971-C-G RET c.138C>G p.Ala46Ala Synonymous 2/20 -
3-38647498-C-T SCN5A c.1282G>A p.Glu428Lys Missense 10/28 -
12-2794967-G-A CACNA1C c.5639G>A p.Arg1880Gln Missense 44/47 -
1-201022634-C-T CACNA1S c.3748G>A p.Ala1250Thr Missense 30/44 -
7-6045549-C-A PMS2 c.137G>T p.Ser46Ile Missense 2/15 -
15-48784753-A-C FBN1 c.2759T>G p.Val920Gly Missense 24/66 -
3-93619677-C-T PROS1 c.698G>A p.Arg233Lys Missense 7/15 -
10-112581063-G-A RBM20 c.2686G>A p.Glu896Lys Missense 11/14 -
1-17380483-C-T SDHB c.32G>A p.Arg11His Missense 1/8 -
12-103260383-T-C PAH c.500A>G p.Asn167Ser Missense 5/13 -
21-35742947-T-C KCNE2 c.170T>C p.Ile57Thr Missense 2/2 -
21-35742857-G-A KCNE2 c.80G>A p.Arg27His Missense 2/2 -
16-2138547-G-A TSC2 c.5360G>A p.Gly1787Asp Missense 42/42 -
3-37092125-A-G MLH1 c.2252A>G p.Lys751Arg Missense 19/19 -
3-30713834-G-T TGFBR2 c.1234G>T p.Val412Leu Missense 5/8 -
X-38240681-C-A OTC c.385C>A p.Arg129Ser Missense 4/10 -
3-30713834-G-A TGFBR2 c.1234G>A p.Val412Met Missense 5/8 -
2-48018236-G-T MSH6 c.431G>T p.Ser144Ile Missense 2/10 -
3-38592152-G-A SCN5A c.5711C>T p.Ser1904Leu Missense 28/28 -
13-32968922-T-C BRCA2 c.9353T>C p.Met3118Thr Missense 25/27 -
16-2100449-C-T TSC2 c.187C>T p.Gln63* Nonsense 3/42 -
16-2130198-G-A TSC2 c.3430G>A p.Val1144Met Missense 30/42 -
3-38622706-A-G SCN5A c.2944T>C p.Cys982Arg Missense 17/28 -
7-150656762-T-C KCNH2 c.370A>G p.Met124Val Missense 3/15 -
13-32906766-C-T BRCA2 c.1151C>T p.Ser384Phe Missense 10/27 -
17-41215948-G-A BRCA1 c.5095C>T p.Arg1699Trp Missense 17/23 -
2-128186370-G-A PROC c.1234G>A p.Gly412Ser Missense 9/9 -
5-112175627-G-A APC c.4336G>A p.Ala1446Thr Missense 16/16 -
4-55603403-T-G KIT c.2759T>G p.Ile920Ser Missense 20/21 -
9-101911508-A-T TGFBR1 c.1202A>T p.Asn401Ile Missense 8/8 -
9-130578230-G-A ENG c.1844C>T p.Ser615Leu Missense 14/14 -
9-130578230-G-C ENG c.1844C>G p.Ser615Trp Missense 14/14 -
19-11227645-G-T LDLR c.1816G>T p.Ala606Ser Missense 12/18 -
9-101911508-A-G TGFBR1 c.1202A>G p.Asn401Ser Missense 8/8 -
13-32914174-C-G BRCA2 c.5682C>G p.Tyr1894* Nonsense 11/27 -
13-32910659-A-G BRCA2 c.2167A>G p.Ser723Gly Missense 11/27 -
19-1223034-C-T STK11 c.971C>T p.Pro324Leu Missense 8/10 -
3-37089131-A-C MLH1 c.1853A>C p.Lys618Thr Missense 16/19 -
3-38645241-G-A SCN5A c.1852C>T p.Leu618Phe Missense 12/28 -
10-89692838-C-A PTEN c.322C>A p.Leu108Ile Missense 5/9 -
2-128180669-C-A PROC c.322C>A p.His108Asn Missense 5/9 -
10-112404396-A-C RBM20 c.184A>C p.Ile62Leu Missense 1/14 -
3-38592527-G-A SCN5A c.5336C>T p.Thr1779Met Missense 28/28 -
17-41245381-T-C BRCA1 c.2167A>G p.Asn723Asp Missense 10/23 -
2-189850485-C-T COL3A1 c.428C>T p.Ser143Leu Missense 4/51 -
10-18803216-C-A CACNB2 c.557C>A p.Ala186Glu Missense 6/13 -
10-43601917-G-A RET c.961G>A p.Gly321Arg Missense 5/20 -
10-43595909-G-A RET c.76G>A p.Ala26Thr Missense 2/20 -
1-237711862-G-A RYR2 c.3038G>A p.Arg1013Gln Missense 26/105 -
1-156108510-C-T LMNA c.1930C>T p.Arg644Cys Missense 11/12 -
5-112175651-A-G APC c.4360A>G p.Lys1454Glu Missense 16/16 -
9-130580575-C-T ENG c.1510G>A p.Val504Met Missense 12/14 -
10-43615108-C-T RET c.2522C>T p.Pro841Leu Missense 14/20 -
17-41243840-A-C BRCA1 c.3708T>G p.Asn1236Lys Missense 10/23 -
11-47356628-G-C MYBPC3 c.2870C>G p.Thr957Ser Missense 27/35 -
11-74168361-C-T KCNE3 c.248G>A p.Arg83His Missense 3/3 -
1-201342370-C-G TNNT2 c.13G>C p.Glu5Gln Missense 2/16 -
2-189859547-C-T COL3A1 c.1445C>T p.Ala482Val Missense 20/51 -
X-38240681-C-T OTC c.385C>T p.Arg129Cys Missense 4/10 -
3-37050383-G-A MLH1 c.532G>A p.Glu178Lys Missense 6/19 -
1-201020164-G-A CACNA1S c.4061C>T p.Thr1354Ile Missense 33/44 -
2-189859802-C-T COL3A1 c.1486C>T p.Pro496Ser Missense 21/51 -
13-32907129-T-C BRCA2 c.1514T>C p.Ile505Thr Missense 10/27 -
14-23894024-A-G MYH7 c.2633T>C p.Val878Ala Missense 22/40 -
13-32893369-G-C BRCA2 c.223G>C p.Ala75Pro Missense 3/27 -
19-39016132-G-A RYR1 c.10616G>A p.Arg3539His Missense 71/106 -
10-43613908-A-T RET c.2372A>T p.Tyr791Phe Missense 13/20 -
12-52309126-A-G ACVRL1 c.890A>G p.His297Arg Missense 7/10 -
17-7577577-T-C TP53 c.704A>G p.Asn235Ser Missense 7/11 -
12-32975517-C-T PKP2 c.1855G>A p.Glu619Lys Missense 9/14 -
13-32913077-G-A BRCA2 c.4585G>A p.Gly1529Arg Missense 11/27 -
19-38976331-G-A RYR1 c.5036G>A p.Arg1679His Missense 34/106 -
7-150654468-G-A KCNH2 c.1039C>T p.Pro347Ser Missense 5/15 -
19-38946112-G-A RYR1 c.1598G>A p.Arg533His Missense 15/106 -
9-98231100-G-A PTCH1 c.2183C>T p.Thr728Met Missense 14/24 -
16-2098699-C-T TSC2 c.83C>T p.Pro28Leu Missense 2/42 -
16-2114403-A-G TSC2 c.1574A>G p.Asn525Ser Missense 15/42 -
2-179567340-G-A TTN c.26542C>T p.His8848Tyr Missense 104/312 -
12-2692022-A-T CACNA1C c.2138A>T p.Tyr713Phe Missense 15/47 -
1-169511621-C-T F5 c.2707G>A p.Gly903Arg Missense 13/25 -
7-6013170-T-C PMS2 c.2449A>G p.Met817Val Missense 15/15 -
19-38955289-G-A RYR1 c.2797G>A p.Ala933Thr Missense 23/106 -
3-37048493-C-T MLH1 c.392C>T p.Ser131Leu Missense 5/19 -
16-68855966-G-A CDH1 c.1774G>A p.Ala592Thr Missense 12/16 -
11-2610045-C-T KCNQ1 c.1354C>T p.Arg452Trp Missense 10/16 -
11-47371333-C-T MYBPC3 c.646G>A p.Ala216Thr Missense 5/35 -
16-68853231-C-A CDH1 c.1614C>A p.Asp538Glu Missense 11/16 -
3-38595989-C-T SCN5A c.4594G>A p.Val1532Ile Missense 27/28 -
2-189867729-G-A COL3A1 c.2494G>A p.Glu832Lys Missense 36/51 -
16-2124321-C-A TSC2 c.2476C>A p.Leu826Met Missense 22/42 -
3-37090074-A-G MLH1 c.1963A>G p.Ile655Val Missense 17/19 -
3-37067327-C-T MLH1 c.1238C>T p.Thr413Ile Missense 12/19 -
19-38956816-C-T RYR1 c.2956C>T p.Arg986Cys Missense 24/106 -
9-130588920-G-A ENG c.392C>T p.Pro131Leu Missense 4/14 -
10-43595999-C-A RET c.166C>A p.Leu56Met Missense 2/20 -
10-43600456-G-A RET c.682G>A p.Ala228Thr Missense 4/20 -
3-10183571-G-A VHL c.40G>A p.Gly14Ser Missense 1/3 -
11-47357479-C-T MYBPC3 c.2686G>A p.Val896Met Missense 26/35 -
21-35742817-G-A KCNE2 c.40G>A p.Val14Ile Missense 2/2 -
11-2790082-A-G KCNQ1 c.1523A>G p.Glu508Gly Missense 12/16 -
11-2869001-C-T KCNQ1 c.1799C>T p.Thr600Met Missense 16/16 -
10-43607555-G-A RET c.1531G>A p.Glu511Lys Missense 8/20 -
19-11240296-G-A LDLR c.2497G>A p.Glu833Lys Missense 17/18 -
1-201017731-C-T CACNA1S c.4420G>A p.Ala1474Thr Missense 36/44 -
17-41244526-T-C BRCA1 c.3022A>G p.Met1008Val Missense 10/23 -
10-43607550-T-C RET c.1526T>C p.Val509Ala Missense 8/20 -
2-179399071-G-A TTN c.94567C>T p.Arg31523Trp Missense 307/312 -
9-101867519-G-A TGFBR1 c.32G>A p.Arg11Gln Missense 1/8 -
10-112540872-A-G RBM20 c.505A>G p.Ile169Val Missense 2/14 -
18-29099850-G-A DSG2 c.166G>A p.Val56Met Missense 3/15 -
11-47364285-C-T MYBPC3 c.1468G>A p.Gly490Arg Missense 17/35 -
12-33031309-T-C PKP2 c.505A>G p.Ser169Gly Missense 3/14 -
10-18795447-G-C CACNB2 c.476G>C p.Ser159Thr Missense 5/13 -
10-18795447-G-A CACNB2 c.476G>A p.Ser159Asn Missense 5/13 -
14-94849388-G-A SERPINA1 c.187C>T p.Arg63Cys Missense 2/5 -
11-47364285-C-G MYBPC3 c.1468G>C p.Gly490Arg Missense 17/35 -
9-98231428-C-T PTCH1 c.1855G>A p.Val619Ile Missense 14/24 -
3-38655243-C-T SCN5A c.694G>A p.Val232Ile Missense 6/28 -
3-38592503-C-T SCN5A c.5360G>A p.Ser1787Asn Missense 28/28 -
3-38603947-G-A SCN5A c.3922C>T p.Leu1308Phe Missense 22/28 -
11-47359047-C-T MYBPC3 c.2497G>A p.Ala833Thr Missense 25/35 -
16-2138570-C-T TSC2 c.5383C>T p.Arg1795Cys Missense 42/42 -
16-68845644-A-G CDH1 c.890A>G p.Asn297Ser Missense 7/16 -
17-41246812-A-C BRCA1 c.736T>G p.Leu246Val Missense 10/23 -
18-29126108-T-G DSG2 c.2759T>G p.Val920Gly Missense 15/15 -
10-18828446-C-T CACNB2 c.1611C>T p.Asp537Asp Synonymous 13/13 -
14-94847262-T-A SERPINA1 c.863A>T p.Glu288Val Missense 3/5 -
17-7579521-C-T TP53 c.166G>A p.Glu56Lys Missense 4/11 -
3-37061893-T-C MLH1 c.977T>C p.Val326Ala Missense 11/19 -
10-18828446-C-G CACNB2 c.1611C>G p.Asp537Glu Missense 13/13 -
2-189875018-A-G COL3A1 c.3938A>G p.Lys1313Arg Missense 49/51 -
10-18828446-C-A CACNB2 c.1611C>A p.Asp537Glu Missense 13/13 -
3-37042486-G-A MLH1 c.248G>A p.Ser83Asn Missense 3/19 -
12-32977026-C-T PKP2 c.1759G>A p.Val587Ile Missense 8/14 -
16-68867247-G-A CDH1 c.2494G>A p.Val832Met Missense 16/16 -
4-55602676-G-A KIT c.2497G>A p.Val833Met Missense 18/21 -
3-37061893-T-A MLH1 c.977T>A p.Val326Glu Missense 11/19 -
10-89720741-C-G PTEN c.892C>G p.Gln298Glu Missense 8/9 -
17-41215920-G-A BRCA1 c.5123C>T p.Ala1708Val Missense 17/23 -
19-11200282-G-A LDLR c.58G>A p.Gly20Arg Missense 1/18 -
2-48033750-A-G MSH6 c.3961A>G p.Arg1321Gly Missense 9/10 -
16-68845732-C-A CDH1 c.978C>A p.Ile326Ile Synonymous 7/16 -
19-35524836-G-A SCN1B c.448+193G>A - IntronicSNV - 3/5
4-55564644-G-A KIT c.532G>A p.Ala178Thr Missense 3/21 -
17-41249297-G-T BRCA1 c.557C>A p.Ser186Tyr Missense 8/23 -
13-32937521-G-A BRCA2 c.8182G>A p.Val2728Ile Missense 18/27 -
16-2098674-G-A TSC2 c.58G>A p.Gly20Arg Missense 2/42 -
7-150656789-C-T KCNH2 c.343G>A p.Val115Met Missense 3/15 -
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 -
3-38645249-C-T SCN5A c.1844G>A p.Gly615Glu Missense 12/28 -
7-150646000-G-C KCNH2 c.2536C>G p.Pro846Ala Missense 10/15 -
3-37067410-G-A MLH1 c.1321G>A p.Ala441Thr Missense 12/19 -
2-47641430-C-T MSH2 c.815C>T p.Ala272Val Missense 5/16 -
10-112540867-A-G RBM20 c.500A>G p.Asn167Ser Missense 2/14 -
19-11240240-G-A LDLR c.2441G>A p.Arg814Gln Missense 17/18 -
2-189859300-C-T COL3A1 c.1327C>T p.Pro443Ser Missense 19/51 -
15-48725102-C-T FBN1 c.6700G>A p.Val2234Met Missense 55/66 -
10-43600559-T-C RET c.785T>C p.Val262Ala Missense 4/20 -
10-112581532-C-T RBM20 c.3155C>T p.Ala1052Val Missense 11/14 -
3-93624903-G-T PROS1 c.431C>A p.Thr144Asn Missense 5/15 -
12-103246701-A-G PAH c.734T>C p.Val245Ala Missense 7/13 -
11-47364234-C-T MYBPC3 c.1519G>A p.Gly507Arg Missense 17/35 -
2-189873832-T-G COL3A1 c.3708T>G p.Thr1236Thr Synonymous 48/51 -
10-43604649-G-A RET c.1234G>A p.Val412Met Missense 6/20 -
10-43597883-G-T RET c.431G>T p.Arg144Leu Missense 3/20 -
13-32930633-C-T BRCA2 c.7504C>T p.Arg2502Cys Missense 15/27 -
7-150645571-G-A KCNH2 c.2653C>T p.Arg885Cys Missense 11/15 -
5-112175711-G-A APC c.4420G>A p.Ala1474Thr Missense 16/16 -
16-2115598-G-A TSC2 c.1678G>A p.Val560Met Missense 16/42 -
1-156108424-C-T LMNA c.1844C>T p.Ser615Phe Missense 11/12 -
13-32914347-T-A BRCA2 c.5855T>A p.Leu1952* Nonsense 11/27 -
5-112176317-A-G APC c.5026A>G p.Arg1676Gly Missense 16/16 -
11-123524481-A-G SCN3B c.29T>C p.Leu10Pro Missense 1/6 -
2-48026648-T-C MSH6 c.1526T>C p.Val509Ala Missense 4/10 -
15-48707938-T-C FBN1 c.7846A>G p.Ile2616Val Missense 64/66 -
19-38954162-G-A RYR1 c.2677G>A p.Gly893Ser Missense 21/106 -
3-93615439-G-A PROS1 c.946C>T p.Arg316Cys Missense 9/15 -
4-55599308-G-T KIT c.2434G>T p.Gly812Cys Missense 17/21 -
14-23895007-G-A MYH7 c.2183C>T p.Ala728Val Missense 20/40 -
9-98220308-G-A PTCH1 c.3155C>T p.Thr1052Met Missense 18/24 -
2-189851795-C-T COL3A1 c.458C>T p.Pro153Leu Missense 5/51 -
17-17125879-G-A FLCN c.715C>T p.Arg239Cys Missense 7/8 -
12-33049590-C-T PKP2 c.76G>A p.Asp26Asn Missense 1/14 -
2-128180732-C-T PROC c.385C>T p.Arg129Cys Missense 5/9 -
3-37089094-G-T MLH1 c.1816G>T p.Gly606* Nonsense 16/19 -
16-68835608-G-T CDH1 c.199G>T p.Ala67Ser Missense 3/16 -
15-48703309-T-C FBN1 c.8494A>G p.Ser2832Gly Missense 66/66 -
10-88681437-C-T BMPR1A c.1327C>T p.Arg443Cys Missense 11/13 -
19-11224284-G-A LDLR c.1432G>A p.Gly478Arg Missense 10/18 -
1-201012431-T-C CACNA1S c.5026A>G p.Ser1676Gly Missense 40/44 -
3-38603958-G-A SCN5A c.3911C>T p.Thr1304Met Missense 22/28 -
10-89720795-C-T PTEN c.946C>T p.Leu316Leu Synonymous 8/9 -
10-43597871-C-T RET c.419C>T p.Pro140Leu Missense 3/20 -
2-48027755-T-G MSH6 c.2633T>G p.Val878Gly Missense 4/10 -
2-48027755-T-C MSH6 c.2633T>C p.Val878Ala Missense 4/10 -
3-37053587-G-A MLH1 c.674G>A p.Ser225Asn Missense 8/19 -
14-23892910-A-G MYH7 c.2945T>C p.Met982Thr Missense 24/40 -
12-33031395-G-A PKP2 c.419C>T p.Ser140Phe Missense 3/14 -
15-48779352-C-T FBN1 c.3509G>A p.Arg1170His Missense 29/66 -
10-43597853-A-C RET c.401A>C p.Glu134Ala Missense 3/20 -
13-32914202-C-G BRCA2 c.5710C>G p.Leu1904Val Missense 11/27 -
5-112174138-G-T APC c.2847G>T p.Met949Ile Missense 16/16 -
2-189855743-G-A COL3A1 c.812G>A p.Arg271Gln Missense 11/51 -
19-39038899-C-T RYR1 c.12121C>T p.Arg4041Trp Missense 89/106 -
3-32181723-A-G GPD1L c.370A>G p.Ile124Val Missense 4/8 -
19-38954147-C-T RYR1 c.2662C>T p.Gln888* Nonsense 21/106 -
3-38620916-G-A SCN5A c.3299C>T p.Ala1100Val Missense 18/28 -
10-89717621-G-A PTEN c.646G>A p.Val216Met Missense 7/9 -
18-29111109-G-A DSG2 c.1174G>A p.Val392Ile Missense 9/15 -
11-47364637-G-A MYBPC3 c.1286C>T p.Ala429Val Missense 15/35 -
2-189868768-G-T COL3A1 c.2722G>T p.Ala908Ser Missense 39/51 -
7-6027032-G-A PMS2 c.1364C>T p.Ser455Phe Missense 11/15 -
16-2108762-A-T TSC2 c.863A>T p.Asp288Val Missense 10/42 -
10-18828181-C-T CACNB2 c.1346C>T p.Thr449Ile Missense 13/13 -
3-38592012-C-A SCN5A c.5851G>T p.Val1951Leu Missense 28/28 -
17-41223249-G-A BRCA1 c.4682C>T p.Thr1561Ile Missense 15/23 -
10-89717673-G-A PTEN c.698G>A p.Arg233Gln Missense 7/9 -
3-38592356-A-G SCN5A c.5507T>C p.Ile1836Thr Missense 28/28 -
19-39034191-A-G RYR1 c.11798A>G p.Tyr3933Cys Missense 86/106 -